| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs5926 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, benign |
Synonymous variant, non coding transcript variant, coding sequence variant, missense variant |
| rs2228671 |
C>A,G,T |
Benign-likely-benign, pathogenic, benign |
Synonymous variant, coding sequence variant, stop gained, missense variant, non coding transcript variant |
| rs2569548 |
C>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs11547917 |
C>A,G,T |
Likely-pathogenic, pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, missense variant |
| rs13306512 |
C>A,G,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Synonymous variant, coding sequence variant, stop gained, missense variant, non coding transcript variant |
| rs13306515 |
C>A,G,T |
Likely-benign, benign, pathogenic, pathogenic-likely-pathogenic |
Synonymous variant, coding sequence variant, stop gained, missense variant, non coding transcript variant |
| rs28941776 |
G>A,T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs28942081 |
G>A,T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs28942082 |
G>A,C,T |
Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs28942083 |
G>A,T |
Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs28942084 |
C>A,T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs28942085 |
A>C,G |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs72658855 |
C>G,T |
Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, coding sequence variant, non coding transcript variant, missense variant |
| rs72658864 |
T>C |
Pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs72658865 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided, likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs72658871 |
A>G,T |
Conflicting-interpretations-of-pathogenicity |
3 prime UTR variant, non coding transcript variant |
| rs112029328 |
G>A,C,T |
Pathogenic-likely-pathogenic, pathogenic |
Intron variant, splice donor variant |
| rs112366278 |
A>C,G,T |
Pathogenic-likely-pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs112954220 |
C>A,G,T |
Likely-benign, pathogenic |
Coding sequence variant, missense variant, intron variant, synonymous variant, stop gained, non coding transcript variant |
| rs121908025 |
T>C,G |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs121908027 |
TGG>- |
Pathogenic-likely-pathogenic, pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs121908028 |
C>A,G,T |
Benign, pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, intron variant, synonymous variant, non coding transcript variant |
| rs121908029 |
G>A,C,T |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, intron variant, stop gained, non coding transcript variant |
| rs121908030 |
G>A,C,T |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs121908031 |
C>A,G |
Likely-pathogenic |
Coding sequence variant, missense variant, intron variant, stop gained, non coding transcript variant |
| rs121908032 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs121908033 |
G>A,T |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs121908034 |
C>A,G,T |
Likely-benign, pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, intron variant, synonymous variant, stop gained, non coding transcript variant |
| rs121908035 |
C>A,G,T |
Likely-pathogenic |
Coding sequence variant, missense variant, intron variant, synonymous variant, stop gained, non coding transcript variant |
| rs121908037 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs121908039 |
G>A,C |
Pathogenic, uncertain-significance |
Intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs121908040 |
G>A,T |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs121908041 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs121908042 |
G>A,C,T |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs121908044 |
C>G,T |
Pathogenic-likely-pathogenic, uncertain-significance |
Intron variant, coding sequence variant, non coding transcript variant, synonymous variant |
| rs137853960 |
G>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
| rs137853964 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs137853965 |
->C |
Pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, frameshift variant |
| rs137853966 |
G>- |
Pathogenic-likely-pathogenic, pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, frameshift variant |
| rs138477254 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity, not-provided, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
| rs138947766 |
G>A,C |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, intron variant, stop gained, non coding transcript variant |
| rs139043155 |
T>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic |
Missense variant, non coding transcript variant, intron variant, coding sequence variant |
| rs139361635 |
G>A,C,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
| rs139400379 |
C>A,T |
Likely-benign, pathogenic |
Coding sequence variant, non coding transcript variant, synonymous variant, stop gained, intron variant |
| rs139507589 |
G>A,C |
Likely-pathogenic |
Missense variant, non coding transcript variant, intron variant, coding sequence variant |
| rs140241383 |
C>A,T |
Benign, likely-benign, pathogenic-likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, synonymous variant, coding sequence variant |
| rs140731590 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, intron variant, coding sequence variant |
| rs140807148 |
T>C |
Pathogenic-likely-pathogenic |
Missense variant, non coding transcript variant, intron variant, coding sequence variant |
| rs143771219 |
G>A |
Likely-pathogenic |
Missense variant, non coding transcript variant, intron variant, coding sequence variant |
| rs143872778 |
C>A,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, non coding transcript variant, intron variant, coding sequence variant |
| rs144172724 |
G>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained, intron variant |
| rs145787161 |
G>A,C,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Non coding transcript variant, splice donor variant, intron variant |
| rs146354103 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign |
Synonymous variant, non coding transcript variant, intron variant, coding sequence variant |
| rs146651743 |
C>A,G,T |
Likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, synonymous variant, stop gained, coding sequence variant |
| rs146675823 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, intron variant, coding sequence variant |
| rs148698650 |
G>A,T |
Pathogenic |
Missense variant, non coding transcript variant, stop gained, coding sequence variant |
| rs150021927 |
T>A,C |
Likely-pathogenic |
Missense variant, non coding transcript variant, intron variant, coding sequence variant |
| rs150104358 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, not-provided |
Missense variant, non coding transcript variant, coding sequence variant |
| rs151207122 |
C>G,T |
Uncertain-significance, likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs185098634 |
C>T |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic |
Missense variant, non coding transcript variant, intron variant, coding sequence variant |
| rs193922566 |
G>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs193922569 |
C>A,T |
Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, stop gained, non coding transcript variant |
| rs193922570 |
G>C,T |
Likely-benign, pathogenic-likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant, intron variant |
| rs193922571 |
G>A,C,T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, intron variant |
| rs199570811 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, intron variant |
| rs199774121 |
C>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, intron variant |
| rs200142970 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
| rs200238879 |
T>C |
Pathogenic-likely-pathogenic |
Splice donor variant, intron variant |
| rs200660051 |
A>G |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, intron variant |
| rs200727689 |
G>A,C,T |
Pathogenic, not-provided, likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, intron variant |
| rs200793488 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
| rs201102461 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant, intron variant |
| rs201102492 |
G>A,T |
Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, intron variant |
| rs201637900 |
G>A,C |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, intron variant |
| rs202049029 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant, non coding transcript variant |
| rs267607213 |
G>A,T |
Pathogenic, pathogenic-likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, stop gained, non coding transcript variant |
| rs368243304 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs368657165 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, coding sequence variant, stop gained, non coding transcript variant |
| rs368838866 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant, intron variant |
| rs369943481 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, missense variant, non coding transcript variant, coding sequence variant, intron variant |
| rs370018159 |
C>A,T |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, stop gained, non coding transcript variant |
| rs370245937 |
C>G,T |
Likely-pathogenic |
Intron variant |
| rs370471092 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained, non coding transcript variant |
| rs370860696 |
C>T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant, intron variant |
| rs372828849 |
T>A,C |
Likely-benign, pathogenic-likely-pathogenic |
Synonymous variant, missense variant, non coding transcript variant, coding sequence variant, intron variant |
| rs372845091 |
C>G,T |
Likely-benign, benign, likely-pathogenic |
Synonymous variant, missense variant, non coding transcript variant, coding sequence variant, intron variant |
| rs373144619 |
C>A,T |
Benign, likely-pathogenic |
Missense variant, synonymous variant, coding sequence variant, non coding transcript variant |
| rs373570349 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant, non coding transcript variant |
| rs373822756 |
A>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, intron variant |
| rs373869746 |
G>A,T |
Pathogenic, likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
| rs374045590 |
C>A,G |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs375495026 |
G>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
| rs376207800 |
C>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs376459828 |
G>A,T |
Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, intron variant |
| rs377271627 |
C>G |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, intron variant |
| rs377437226 |
C>A,T |
Pathogenic-likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, stop gained, non coding transcript variant |
| rs377449975 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, intron variant |
| rs387906301 |
GATGGC>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant, non coding transcript variant |
| rs387906302 |
->AGAA |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs387906303 |
G>A |
Pathogenic-likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, intron variant |
| rs387906304 |
CCCATCA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs387906305 |
AC>- |
Pathogenic-likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs387906306 |
TGCAAGGACAAATCTGAC>-,TGCAAGGACAAATCTGACTGCAAGGACAAATCTGAC |
Pathogenic-likely-pathogenic, likely-pathogenic |
Inframe insertion, coding sequence variant, non coding transcript variant, inframe deletion, intron variant |
| rs397509365 |
A>C,G |
Pathogenic-likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs537484504 |
C>A,G,T |
Benign, likely-benign, likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, synonymous variant, missense variant, intron variant |
| rs540073140 |
C>T |
Likely-benign, likely-pathogenic |
Intron variant |
| rs543852919 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, non coding transcript variant, intron variant, synonymous variant |
| rs544203837 |
A>G |
Pathogenic-likely-pathogenic, pathogenic |
Intron variant, splice acceptor variant |
| rs544453230 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided |
Coding sequence variant, non coding transcript variant, missense variant |
| rs551528700 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, synonymous variant |
| rs551747280 |
G>A,T |
Likely-benign, likely-pathogenic, pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, missense variant |
| rs555292896 |
A>G |
Benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, coding sequence variant |
| rs557344672 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs559239150 |
G>A,T |
Benign, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs563382937 |
A>G,T |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs563390335 |
C>A,T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, missense variant, intron variant |
| rs564258872 |
C>G,T |
Likely-pathogenic |
Synonymous variant, stop gained, non coding transcript variant, coding sequence variant |
| rs574337291 |
G>C,T |
Conflicting-interpretations-of-pathogenicity |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs577934998 |
T>C,G |
Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs587776886 |
C>G,T |
Pathogenic-likely-pathogenic |
Non coding transcript variant, intron variant |
| rs730882078 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs730882080 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs730882082 |
G>A,T |
Likely-pathogenic, not-provided |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs730882085 |
T>C,G |
Likely-pathogenic, pathogenic, not-provided |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs730882086 |
G>A,T |
Pathogenic-likely-pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs730882089 |
G>A,C |
Likely-pathogenic, not-provided |
Coding sequence variant, non coding transcript variant, missense variant |
| rs730882090 |
C>A |
Conflicting-interpretations-of-pathogenicity, not-provided |
Coding sequence variant, non coding transcript variant, missense variant |
| rs730882094 |
A>C,G |
Likely-pathogenic, not-provided |
Coding sequence variant, non coding transcript variant, missense variant |
| rs730882096 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs730882109 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, not-provided, pathogenic-likely-pathogenic, likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs730882110 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
| rs745753810 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs745776977 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs746091400 |
T>C,G |
Pathogenic-likely-pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs746834464 |
G>A,T |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, missense variant |
| rs746939188 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Stop gained, coding sequence variant, non coding transcript variant |
| rs746959386 |
C>G,T |
Pathogenic-likely-pathogenic, pathogenic |
Synonymous variant, coding sequence variant, non coding transcript variant, missense variant |
| rs747134711 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
| rs747344293 |
C>-,CC |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs747507019 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
| rs748131256 |
T>C,G |
Likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs748300548 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Stop gained, coding sequence variant, non coding transcript variant |
| rs748672083 |
C>A,G,T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, intron variant, stop gained |
| rs748944640 |
G>A,T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, intron variant, stop gained |
| rs749038326 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs749220643 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs750474121 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs750518671 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs751122998 |
A>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs751228587 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs751317621 |
C>A,G,T |
Pathogenic |
Synonymous variant, stop gained, coding sequence variant, non coding transcript variant |
| rs752191968 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs752596535 |
C>A,G,T |
Pathogenic-likely-pathogenic |
Synonymous variant, non coding transcript variant, missense variant, coding sequence variant, intron variant, stop gained |
| rs752935814 |
G>A,C |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, intron variant, stop gained |
| rs753319170 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs753707206 |
G>A,C,T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs754536745 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs754676104 |
C>A,T |
Likely-benign, pathogenic |
Synonymous variant, stop gained, coding sequence variant, non coding transcript variant |
| rs754933794 |
T>A,C |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs755757866 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs755799528 |
C>G |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, intron variant |
| rs756613387 |
C>A,G,T |
Likely-pathogenic, pathogenic |
Synonymous variant, non coding transcript variant, missense variant, coding sequence variant, intron variant, stop gained |
| rs757252110 |
G>A,C |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, missense variant |
| rs757808215 |
G>A,C,T |
Likely-benign, pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs758194385 |
A>G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs758493597 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
| rs758927662 |
T>C,G |
Likely-pathogenic |
Synonymous variant, non coding transcript variant, missense variant, coding sequence variant, intron variant |
| rs759109699 |
C>G,T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, intron variant, stop gained |
| rs759858813 |
C>G,T |
Likely-pathogenic |
Synonymous variant, coding sequence variant, missense variant, non coding transcript variant, intron variant |
| rs759876319 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs760436036 |
T>A,C |
Pathogenic |
Synonymous variant, stop gained, coding sequence variant, non coding transcript variant, intron variant |
| rs761123215 |
A>G,T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs761683856 |
G>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs761765254 |
A>C,G |
Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs761954844 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs762815611 |
C>A |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs763147599 |
G>A |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs763625913 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs763998635 |
C>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs764042910 |
C>A,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs764493597 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs764526789 |
G>A,T |
Likely-pathogenic |
Synonymous variant, coding sequence variant, missense variant, non coding transcript variant, intron variant |
| rs764550980 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs764797225 |
G>- |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, frameshift variant |
| rs766094434 |
C>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs766709484 |
C>A,G,T |
Pathogenic, likely-benign, likely-pathogenic |
Synonymous variant, coding sequence variant, missense variant, non coding transcript variant, intron variant |
| rs767024374 |
C>A,T |
Pathogenic |
Synonymous variant, coding sequence variant, non coding transcript variant, stop gained |
| rs767618089 |
A>G,T |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant, stop gained |
| rs767790696 |
A>G |
Pathogenic |
Splice acceptor variant |
| rs768563000 |
G>A,T |
Pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Stop gained, coding sequence variant, missense variant, non coding transcript variant, intron variant |
| rs769318035 |
C>A,G,T |
Pathogenic-likely-pathogenic, pathogenic |
Synonymous variant, stop gained, coding sequence variant, missense variant, non coding transcript variant, intron variant |
| rs769383881 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Stop gained, coding sequence variant, missense variant, non coding transcript variant, intron variant |
| rs769446356 |
A>G,T |
Pathogenic-likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Intron variant |
| rs770744861 |
G>A |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs771019366 |
A>C,G |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs771336748 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs771917370 |
C>G,T |
Pathogenic-likely-pathogenic, pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs773328511 |
C>A,T |
Pathogenic, likely-benign |
Synonymous variant, stop gained, coding sequence variant, non coding transcript variant, intron variant |
| rs773618064 |
G>-,GG |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs773693079 |
A>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
| rs774016801 |
T>A,C |
Pathogenic |
Stop gained, coding sequence variant, missense variant, non coding transcript variant, intron variant |
| rs774069731 |
T>G |
Likely-pathogenic |
Splice donor variant |
| rs774467219 |
C>G,T |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Stop gained, coding sequence variant, missense variant, non coding transcript variant, intron variant |
| rs774723292 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs774730452 |
G>A |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs775092314 |
T>C |
Likely-pathogenic, pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs776217028 |
G>A,C |
Likely-pathogenic, pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs776421777 |
G>A,T |
Likely-pathogenic, uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant, non coding transcript variant |
| rs777188764 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs777321035 |
C>A,T |
Likely-pathogenic, likely-benign |
Missense variant, intron variant, coding sequence variant, synonymous variant, non coding transcript variant |
| rs777326720 |
G>A,T |
Likely-pathogenic |
Stop gained, missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs777524402 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs777640882 |
C>G,T |
Likely-pathogenic, likely-benign |
Missense variant, intron variant, coding sequence variant, synonymous variant, non coding transcript variant |
| rs778284147 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs778408161 |
T>A,C |
Pathogenic |
Splice donor variant, intron variant |
| rs779913921 |
T>A,C,G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs779940524 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs793888517 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, pathogenic |
Splice donor variant, intron variant |
| rs794728584 |
T>A,G |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs794728585 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs867272973 |
C>- |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs869320648 |
G>A |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs869320649 |
->TG |
Likely-pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs869320650 |
G>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs869320652 |
G>A,C,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Stop gained, missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989889 |
GT>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989890 |
G>A |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989891 |
C>A |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs875989892 |
C>G,T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989893 |
C>T |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs875989894 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989895 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989896 |
CG>- |
Pathogenic |
Splice donor variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989897 |
->T |
Pathogenic-likely-pathogenic |
Splice donor variant, intron variant |
| rs875989898 |
C>-,CC |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989899 |
C>A,T |
Likely-benign, pathogenic |
Stop gained, missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989900 |
T>C,G |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989901 |
T>C,G |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989902 |
A>G,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989903 |
->T |
Pathogenic-likely-pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs875989905 |
C>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989906 |
G>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989907 |
G>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989908 |
->GGGACTGGTCAGATGAACC |
Pathogenic |
Inframe insertion, stop gained, coding sequence variant, non coding transcript variant |
| rs875989909 |
C>G |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs875989910 |
GC>AT |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs875989911 |
G>A |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs875989912 |
T>A,C,G |
Pathogenic-likely-pathogenic, pathogenic |
Splice donor variant |
| rs875989914 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs875989925 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs875989926 |
G>A,C,T |
Pathogenic-likely-pathogenic, pathogenic |
Splice donor variant |
| rs875989927 |
GTGGC>A |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989928 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Stop gained, missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989929 |
G>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989930 |
T>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989931 |
GGG>-,GG,GGGG |
Uncertain-significance, pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs875989932 |
T>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989933 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Stop gained, missense variant, coding sequence variant, non coding transcript variant |
| rs875989934 |
C>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs875989935 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs875989936 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
| rs875989937 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989938 |
G>A,T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs875989941 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs875989942 |
C>A,T |
Pathogenic |
Intron variant |
| rs875989943 |
A>T |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs878854026 |
T>C |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs878854027 |
A>C,T |
Pathogenic-likely-pathogenic, pathogenic |
Intron variant, splice acceptor variant |
| rs878854028 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254357 |
->ATGGTG |
Pathogenic |
Inframe insertion, intron variant, coding sequence variant, non coding transcript variant |
| rs879254358 |
CCCCG>-,CCCCGCCCCG |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254395 |
CTCA>- |
Likely-pathogenic |
Intron variant, splice acceptor variant |
| rs879254396 |
A>G,T |
Pathogenic-likely-pathogenic |
Splice acceptor variant |
| rs879254397 |
G>A,C |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs879254398 |
A>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs879254399 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254400 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254401 |
A>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs879254402 |
GTTCCAG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254403 |
T>C,G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254404 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254405 |
T>G |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254406 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254407 |
C>A,T |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant, non coding transcript variant |
| rs879254408 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs879254409 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254410 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254411 |
GC>AA |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs879254412 |
C>- |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs879254413 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254414 |
->GG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254415 |
T>G |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254417 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254418 |
G>A |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254419 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs879254420 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254421 |
TGA>- |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, inframe deletion |
| rs879254422 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254423 |
G>A,T |
Likely-pathogenic, pathogenic |
Stop gained, missense variant, coding sequence variant, non coding transcript variant |
| rs879254424 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254425 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254426 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254427 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254428 |
G>A,T |
Likely-pathogenic |
Splice donor variant |
| rs879254430 |
T>G |
Likely-pathogenic |
Splice donor variant |
| rs879254432 |
A>CT |
Pathogenic-likely-pathogenic |
Intron variant, splice acceptor variant |
| rs879254433 |
G>A,T |
Pathogenic-likely-pathogenic, pathogenic |
Intron variant, splice acceptor variant |
| rs879254434 |
TCTGTCACC>GACTTCA |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254435 |
->AT,T |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254436 |
->A |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254437 |
C>A |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879254438 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254439 |
T>A |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254440 |
G>-,GG |
Likely-pathogenic, pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254442 |
C>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254443 |
->T |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254444 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254445 |
->G |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254446 |
T>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254447 |
T>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254448 |
G>A,C,T |
Pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254451 |
TCTGGAGGT>- |
Likely-pathogenic, uncertain-significance |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879254452 |
G>A |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879254453 |
GA>AG |
Pathogenic |
Stop gained, inframe indel, intron variant, coding sequence variant, non coding transcript variant |
| rs879254455 |
T>C,G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254456 |
T>A,C,G |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254457 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254458 |
CA>- |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879254459 |
G>A |
Uncertain-significance, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254460 |
A>G,T |
Likely-pathogenic, uncertain-significance |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254461 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254463 |
TGTC>- |
Pathogenic |
Stop gained, frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254464 |
T>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254465 |
T>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254466 |
->G |
Pathogenic-likely-pathogenic |
Splice donor variant, intron variant |
| rs879254467 |
G>A,T |
Likely-pathogenic |
Intron variant |
| rs879254468 |
T>A,C |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs879254470 |
A>C,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Intron variant, splice acceptor variant |
| rs879254471 |
G>A,T |
Pathogenic-likely-pathogenic, pathogenic |
Intron variant, splice acceptor variant |
| rs879254472 |
CCCAAGACGTGCTCCCAGGAC>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879254475 |
->A |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254476 |
GT>TC |
Pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254477 |
TGCTCCCAGGACG>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254478 |
->C |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254479 |
ACGAGTTTCG>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254480 |
AGTTTCGCTGCCACGA>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254481 |
->G |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254482 |
T>C |
Pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254483 |
GCC>- |
Likely-pathogenic |
Inframe indel, intron variant, coding sequence variant, non coding transcript variant |
| rs879254484 |
GCCACGATGGGAAGTGCATCT>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879254485 |
G>T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254487 |
->ACGATGGGAAGTGCATCTCTCGG |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254488 |
A>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254489 |
TGG>- |
Likely-pathogenic |
Inframe indel, intron variant, coding sequence variant, non coding transcript variant |
| rs879254490 |
GGAAGTG>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254491 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254492 |
T>A,C,G |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254493 |
A>T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254494 |
->C |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254496 |
TC>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254497 |
TCGGCAGTTCGTCTGTGACTCAGAC>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254498 |
C>G,T |
Likely-pathogenic, uncertain-significance, likely-benign |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254499 |
->C |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254500 |
->CTGA |
Pathogenic |
Stop gained, inframe indel, intron variant, coding sequence variant, non coding transcript variant |
| rs879254501 |
T>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254502 |
T>A,C |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254503 |
T>A,G |
Likely-pathogenic, pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254504 |
TGTG>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254505 |
T>C |
Pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254506 |
G>A,C,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254507 |
A>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254508 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254509 |
C>G |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879254510 |
->C |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254511 |
G>A,C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254512 |
->G |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254513 |
G>A |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254514 |
G>A,T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254515 |
C>G,T |
Likely-pathogenic, benign |
Missense variant, intron variant, coding sequence variant, synonymous variant, non coding transcript variant |
| rs879254516 |
A>T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254517 |
G>A,C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254518 |
A>G,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254519 |
A>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254520 |
G>C,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254521 |
TCCTGCC>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254522 |
G>A,C,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254523 |
->CGGT |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254524 |
C>T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254525 |
T>C |
Pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254526 |
G>A,C |
Pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254528 |
T>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254529 |
G>C,T |
Uncertain-significance, pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254530 |
->C |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254531 |
GCC>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879254532 |
T>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254533 |
T>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254534 |
C>T |
Pathogenic-likely-pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879254535 |
T>A,C,G |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254536 |
G>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254537 |
->AACAGCTCCACCTGCATCC |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254538 |
T>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254540 |
T>C,G |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254541 |
G>A,T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254542 |
TCCCCCA>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254543 |
C>T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254544 |
T>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254545 |
T>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254546 |
G>A |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879254547 |
T>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254548 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254549 |
A>C,G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254550 |
A>T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254551 |
->C |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254552 |
C>-,CC |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254554 |
G>A,C,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254555 |
A>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254556 |
->CTGCGAAGA |
Likely-pathogenic |
Inframe insertion, intron variant, coding sequence variant, non coding transcript variant |
| rs879254557 |
C>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254558 |
T>C,G |
Likely-pathogenic, pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254559 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254560 |
G>A,C |
Likely-pathogenic, pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254561 |
TGGCTCGGATGA>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879254562 |
->GGCTCGGA |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254563 |
G>T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254564 |
->T |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254565 |
G>A,C,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254566 |
T>G |
Pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254567 |
G>A,T |
Likely-pathogenic, pathogenic |
Stop gained, missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254568 |
A>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254569 |
G>A |
Pathogenic-likely-pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879254570 |
C>T |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879254571 |
T>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254572 |
T>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254573 |
G>-,GG |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254574 |
->G |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254575 |
TT>-,T |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254577 |
TTCCAAGGGGACAGTAGCCCCTG>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254579 |
ACAGTAG>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254580 |
A>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254581 |
->A |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254582 |
AGCCCCT>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254584 |
C>A,G,T |
Likely-pathogenic, pathogenic |
Stop gained, missense variant, intron variant, coding sequence variant, synonymous variant, non coding transcript variant |
| rs879254585 |
T>A,C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254588 |
C>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254589 |
G>A |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254590 |
T>C,G |
Likely-pathogenic, uncertain-significance |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254591 |
C>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254592 |
G>A,C,T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254593 |
->A |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254594 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254595 |
T>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254596 |
GGCGAGTGCATCCACTCCAGC>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879254597 |
G>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Stop gained, missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254598 |
AGTGCATCCACTCCAGCTGGCG>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254599 |
->TG |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254600 |
G>A |
Pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254601 |
T>A,C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254602 |
ACT>- |
Likely-pathogenic |
Inframe indel, intron variant, coding sequence variant, non coding transcript variant |
| rs879254603 |
A>T |
Likely-pathogenic, uncertain-significance |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254604 |
G>C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254605 |
G>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254606 |
G>A |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879254607 |
->ATCCACTCAGCTGGC |
Likely-pathogenic |
Inframe insertion, intron variant, coding sequence variant, non coding transcript variant |
| rs879254608 |
CT>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254609 |
T>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254610 |
T>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254611 |
G>A,T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254612 |
TG>- |
Pathogenic |
Stop gained, inframe indel, intron variant, coding sequence variant, non coding transcript variant |
| rs879254613 |
TGATGGTGG>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879254614 |
->T |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254615 |
TGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAA>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254616 |
GGC>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879254617 |
GCCCCG>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879254618 |
->TGCAA |
Likely-pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254619 |
GACTGCAAGGACAAATC>- |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879254620 |
->CTGCAAGGACAAATCTGACGA |
Likely-pathogenic, pathogenic |
Inframe insertion, intron variant, coding sequence variant, non coding transcript variant |
| rs879254622 |
TGCAAGGACAAATCTGAC>CCGACTG |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254623 |
CAAGGACAAATCTGACGAGGAA>- |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879254624 |
AAGGACAAATCTGACGAGGAAAACTGC>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879254625 |
->GGACAAATCTG |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254626 |
->GGACAAATCTGA |
Likely-pathogenic |
Inframe insertion, intron variant, coding sequence variant, non coding transcript variant |
| rs879254627 |
G>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254628 |
GACAAA>TTT |
Likely-pathogenic |
Inframe indel, intron variant, coding sequence variant, non coding transcript variant |
| rs879254629 |
->G |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254630 |
A>C,G,T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254631 |
AAATCTGACG>TGCAA |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254632 |
ATCTGACGAGGAAAA>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879254633 |
A>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254634 |
->TCTGACGAG |
Likely-pathogenic |
Inframe insertion, intron variant, coding sequence variant, non coding transcript variant |
| rs879254635 |
T>A,C |
Pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254636 |
C>A,G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254637 |
ACG>CA,CGGTATGGACTGCA,NNNNNNNNNNNNNN |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254638 |
A>T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254639 |
CGA>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879254640 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254641 |
G>GGACAAATCTGAG,TCAAGGAAACCCGACTGCA,TGCA |
Likely-pathogenic, pathogenic |
Stop gained, inframe indel, intron variant, coding sequence variant, non coding transcript variant |
| rs879254642 |
A>C,G |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254643 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254644 |
G>A |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254645 |
CGGTATGGGCGGGGCCAGGGTG>- |
Pathogenic |
Splice donor variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254646 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Splice donor variant, intron variant |
| rs879254647 |
->T |
Likely-pathogenic |
Intron variant |
| rs879254651 |
TTCCAGCTGT>- |
Pathogenic |
Intron variant, splice acceptor variant, coding sequence variant, non coding transcript variant |
| rs879254652 |
G>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Intron variant, splice acceptor variant |
| rs879254653 |
->C |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254655 |
T>A,C,G |
Likely-pathogenic, uncertain-significance |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254656 |
->T |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254657 |
C>T |
Likely-pathogenic, uncertain-significance |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254658 |
C>T |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879254659 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254660 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254661 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254662 |
T>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254663 |
G>A,C,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254664 |
C>A |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879254665 |
T>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254666 |
->G |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254667 |
A>C |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254668 |
T>A,C,G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254669 |
G>A |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254670 |
A>G |
Pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254671 |
C>A,G,T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, synonymous variant, non coding transcript variant |
| rs879254672 |
G>A,T |
Likely-benign, pathogenic |
Stop gained, missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254673 |
AT>- |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879254674 |
T>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254675 |
ATGA>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254676 |
A>T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254677 |
GATG>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254678 |
A>G,T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254679 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254680 |
A>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254681 |
A>T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254682 |
T>A,C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254683 |
G>A |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254684 |
AATG>- |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879254685 |
G>A,C,T |
Pathogenic-likely-pathogenic, pathogenic |
Splice donor variant, intron variant |
| rs879254686 |
T>C,G |
Likely-pathogenic, pathogenic |
Splice donor variant, intron variant |
| rs879254688 |
G>A |
Pathogenic-likely-pathogenic |
Splice acceptor variant |
| rs879254689 |
ACACTCTG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254691 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254692 |
T>C,G |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254693 |
T>A,C,G |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254696 |
T>- |
Pathogenic-likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254697 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254699 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254700 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254701 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254702 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254703 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254704 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254705 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254706 |
GCA>AGC |
Pathogenic |
Inframe indel, stop gained, coding sequence variant, non coding transcript variant |
| rs879254707 |
G>A,C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254708 |
C>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs879254710 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254711 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254712 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254713 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254714 |
A>C,G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254715 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254716 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254717 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Stop gained, missense variant, coding sequence variant, non coding transcript variant |
| rs879254718 |
->TCAG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254719 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254720 |
T>G |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254721 |
G>A,T |
Likely-pathogenic, pathogenic |
Stop gained, missense variant, coding sequence variant, non coding transcript variant |
| rs879254723 |
AA>-,A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254725 |
G>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs879254727 |
CGGTG>- |
Pathogenic |
Splice donor variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254728 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254729 |
G>A,C,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Splice donor variant |
| rs879254734 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs879254735 |
G>A |
Pathogenic-likely-pathogenic |
Splice acceptor variant |
| rs879254736 |
AACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAATGACC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254737 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254738 |
T>C |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254739 |
G>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254740 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254742 |
A>T |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254743 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254744 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254745 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254746 |
G>A,C,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254747 |
C>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254748 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254749 |
T>C,G |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254750 |
A>G |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254751 |
C>- |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs879254752 |
GAGTGCCTGTGCCCCGACGGCTTC>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, inframe deletion |
| rs879254753 |
T>A,C,G |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254754 |
G>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254755 |
C>A,T |
Likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant, non coding transcript variant |
| rs879254757 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254758 |
GC>TG |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254760 |
G>A,T |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254761 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254762 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254763 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254764 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254765 |
C>-,CC |
Pathogenic-likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254767 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254768 |
->ATGCGAAG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254769 |
T>A,C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254770 |
CGAAGGTG>- |
Likely-pathogenic, pathogenic |
Splice donor variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254771 |
G>A,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs879254947 |
A>G,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Splice acceptor variant |
| rs879254948 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
| rs879254949 |
CTTCA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254950 |
TGTACTGGACTGACTGGGGAACTCCCGCCAAGATCA>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, inframe deletion |
| rs879254951 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254952 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs879254953 |
ACTGACTGG>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, inframe deletion |
| rs879254954 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254955 |
G>A,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254956 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254957 |
G>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant, non coding transcript variant |
| rs879254958 |
G>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs879254959 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254962 |
T>G |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254963 |
GAAAGGGGGCCTGAATGGTGTGGA>- |
Pathogenic-likely-pathogenic |
Inframe indel, coding sequence variant, non coding transcript variant |
| rs879254964 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254965 |
G>A,C,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254966 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254967 |
TGAATGGTGTGGA>AGCGTCATCTTCCTGAC |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254968 |
T>C |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254969 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254970 |
T>A,G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254971 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254972 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254973 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254975 |
CTC>ATACTTTCA |
Pathogenic |
Inframe indel, stop gained, coding sequence variant, non coding transcript variant |
| rs879254976 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Stop gained, missense variant, coding sequence variant, non coding transcript variant |
| rs879254977 |
->GCTGGTGA |
Pathogenic |
Inframe indel, stop gained, coding sequence variant, non coding transcript variant |
| rs879254978 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254979 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254980 |
G>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs879254981 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs879254982 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254983 |
->TGG |
Likely-pathogenic |
Inframe insertion, coding sequence variant, non coding transcript variant |
| rs879254984 |
GCCCAATG>T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254985 |
G>A |
Pathogenic-likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs879254986 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254987 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254988 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254989 |
CACCCTA>GCCCAAT |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254990 |
->CTAG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254991 |
T>C |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254992 |
G>- |
Pathogenic |
Splice donor variant, coding sequence variant, non coding transcript variant |
| rs879254993 |
G>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879254994 |
->C |
Pathogenic-likely-pathogenic |
Intron variant |
| rs879254996 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Intron variant, splice acceptor variant |
| rs879254998 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879254999 |
A>C,G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255000 |
T>C,G |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255001 |
GGGTTGACT>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879255003 |
A>C,G,T |
Likely-pathogenic, pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255004 |
C>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255005 |
C>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255006 |
TT>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255007 |
A>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255008 |
CTCCA>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255009 |
C>A,G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255010 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255011 |
C>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255012 |
T>A,C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255013 |
T>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255014 |
A>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255015 |
AT>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255016 |
A>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255019 |
C>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255020 |
GGAAGAC>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255021 |
A>T |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879255022 |
A>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255025 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255026 |
G>T |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879255027 |
A>G,T |
Likely-pathogenic, benign |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255028 |
->A |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255029 |
A>T |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879255031 |
C>T |
Pathogenic-likely-pathogenic |
Synonymous variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255032 |
GGCCCACCCCT>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255033 |
A>C,G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255034 |
C>A,T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255035 |
C>G,T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255037 |
CCT>- |
Uncertain-significance, pathogenic-likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879255038 |
C>G,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255039 |
->T |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255041 |
G>C,T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255043 |
T>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255044 |
TT>- |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879255045 |
G>A |
Likely-pathogenic, uncertain-significance |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255046 |
A>T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255047 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255049 |
G>A,C,T |
Pathogenic-likely-pathogenic |
Splice donor variant, intron variant |
| rs879255050 |
A>C |
Likely-pathogenic |
Splice acceptor variant |
| rs879255051 |
G>A,C |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs879255052 |
TATTTTGGACAG>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, inframe deletion |
| rs879255053 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255054 |
T>C,G |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255055 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255057 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255058 |
C>G |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255059 |
G>A |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255060 |
A>C,G |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255061 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255063 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255065 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255066 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255067 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255068 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255069 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255070 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255071 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255072 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255073 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255075 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255076 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255077 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255078 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255079 |
T>C,G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255080 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255081 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255082 |
C>-,CC |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255085 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255086 |
T>C,G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255087 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255088 |
->TCTTC |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255089 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255090 |
C>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255091 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255092 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255093 |
ACCCAGCCAAGAGGTAAGGGTGGGTCAGC>- |
Pathogenic |
Splice donor variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255095 |
A>C,G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255096 |
AG>C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255097 |
G>- |
Pathogenic |
Splice donor variant, coding sequence variant, non coding transcript variant |
| rs879255098 |
TAAGGGTGGGTCAGCCCCACCCCCCCAACCTTG>- |
Likely-pathogenic |
Splice donor variant, intron variant |
| rs879255101 |
A>G,T |
Pathogenic-likely-pathogenic, pathogenic |
Intron variant, splice acceptor variant |
| rs879255102 |
G>A,C |
Likely-pathogenic, pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255104 |
TGGTGTGAGAGGACCAC>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255106 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255107 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255108 |
TGAGAGG>- |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879255109 |
T>A,G |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255110 |
CC>-,C |
Pathogenic |
Stop gained, frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255112 |
T>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255113 |
GCCAGTATCTGTG>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255114 |
C>T |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879255115 |
AGTATCTGTGCC>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879255116 |
->T |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255117 |
->A |
Pathogenic |
Stop gained, intron variant, coding sequence variant, non coding transcript variant |
| rs879255118 |
T>A,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255119 |
T>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255120 |
CCCT>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255121 |
GCCCCGCAGATCAA>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255122 |
C>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255123 |
GCAGATCAACCCC>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255124 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255125 |
CAGATCAACCCCC>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255126 |
C>G,T |
Likely-pathogenic, pathogenic |
Stop gained, missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255127 |
T>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255128 |
A>-,AA |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255130 |
C>-,CC |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255131 |
AA>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255132 |
T>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255133 |
CTGCGCCTGCCCGGACGGC>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255134 |
G>A |
Pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255135 |
T>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255136 |
G>A,T |
Pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255137 |
C>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255138 |
C>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255139 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255140 |
->TGCT |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255141 |
->TGCTGGC |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255142 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255143 |
A>T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255144 |
T>A,G |
Likely-pathogenic, pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255145 |
G>A,C,T |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255146 |
C>A,G |
Pathogenic |
Stop gained, missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255147 |
T>A,C |
Likely-pathogenic, pathogenic-likely-pathogenic |
Splice donor variant, intron variant, non coding transcript variant |
| rs879255149 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Stop gained, missense variant, coding sequence variant, non coding transcript variant |
| rs879255150 |
C>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255153 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255155 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255156 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255157 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255158 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255159 |
AAAGGTCAGCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255160 |
->GTCAGCTCCACAG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255161 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255163 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255164 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255166 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255167 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255168 |
CCACCCCTGG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255169 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255172 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255174 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255175 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs879255176 |
T>G |
Pathogenic-likely-pathogenic |
Splice donor variant |
| rs879255177 |
->TA |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255178 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255181 |
GAAGA>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255182 |
T>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255184 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255185 |
C>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant, non coding transcript variant |
| rs879255186 |
G>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Splice donor variant, intron variant |
| rs879255187 |
TAAG>GGCCCCAT |
Likely-pathogenic |
Splice donor variant, intron variant |
| rs879255188 |
T>G |
Likely-pathogenic |
Splice donor variant, intron variant |
| rs879255191 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant |
| rs879255193 |
G>A,C |
Pathogenic-likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs879255194 |
CTCCTCGTC>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, inframe deletion |
| rs879255195 |
CTC>- |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, inframe deletion |
| rs879255196 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255197 |
CGTCTTCCTTTGCCTG>- |
Conflicting-interpretations-of-pathogenicity |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255198 |
TCTTC>GGGT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255199 |
T>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255200 |
CCTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255201 |
TGCCTGGGGGTCTTCCTT>-,TGCCTGGGGGTCTTCCTTTGCCTGGGGGTCTTCCTT |
Likely-pathogenic, uncertain-significance |
Inframe insertion, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879255202 |
->GC |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255204 |
G>A,C |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255207 |
->G,GG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255209 |
TCCTTCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255210 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs879255212 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs879255213 |
A>C,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant, non coding transcript variant |
| rs879255215 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255217 |
C>A,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255218 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255219 |
GAT>C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255222 |
->C |
Pathogenic-likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255224 |
G>A |
Pathogenic |
Splice donor variant |
| rs879255226 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Intron variant |
| rs879255227 |
A>G |
Likely-pathogenic |
Intron variant, splice acceptor variant |
| rs879255229 |
A>- |
Pathogenic |
Frameshift variant, splice acceptor variant, coding sequence variant, non coding transcript variant |
| rs886039830 |
TGGCGAGTGCATCCACTCCAG>- |
Pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs886039831 |
C>G,T |
Likely-pathogenic |
Intron variant |
| rs912448894 |
C>T |
Pathogenic |
Coding sequence variant, intron variant, missense variant, non coding transcript variant |
| rs934496989 |
C>T |
Likely-pathogenic |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs1013147010 |
C>A |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, missense variant |
| rs1057516127 |
G>T |
Pathogenic-likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
| rs1057516129 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1057516130 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1057516132 |
TTTCG>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1057516133 |
->C |
Likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1057516134 |
A>- |
Pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1057516135 |
A>- |
Pathogenic-likely-pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1057519652 |
T>C |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, intron variant, missense variant, non coding transcript variant |
| rs1057519653 |
->TGCATTC |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1057519654 |
C>A |
Pathogenic |
Coding sequence variant, stop gained, intron variant, non coding transcript variant |
| rs1057519655 |
T>C,G |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant, non coding transcript variant |
| rs1057519657 |
->CGACTGC |
Likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1057519659 |
AATCTGACGA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1057519660 |
ACGAGGAAAACTG>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1057519661 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1057519662 |
->CAAGGACAAATCTGACG |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1057519663 |
C>A,T |
Pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, synonymous variant, stop gained |
| rs1057519664 |
A>T |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
| rs1057519665 |
GGTGAGTCTCGGTGC>- |
Pathogenic |
Splice donor variant, coding sequence variant, intron variant, non coding transcript variant |
| rs1057519666 |
->G |
Pathogenic |
Splice donor variant, coding sequence variant, non coding transcript variant |
| rs1057519675 |
T>C |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant, non coding transcript variant |
| rs1057519676 |
CG>T |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1057519677 |
T>G |
Pathogenic-likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
| rs1057519679 |
GCCA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1057519682 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1057519683 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1057519684 |
A>G |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant, non coding transcript variant |
| rs1057519685 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1057519687 |
GACAATGT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1057519690 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1060499919 |
T>C |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant, non coding transcript variant |
| rs1060499926 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1060499927 |
A>T |
Pathogenic |
Coding sequence variant, stop gained, intron variant, non coding transcript variant |
| rs1060499930 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
| rs1060499931 |
C>A |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant, non coding transcript variant |
| rs1060499933 |
C>A,T |
Likely-pathogenic, likely-benign |
Coding sequence variant, missense variant, non coding transcript variant, synonymous variant |
| rs1060500988 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1064792905 |
AGGAAAACTGCG>- |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, inframe deletion |
| rs1064793799 |
A>C |
Pathogenic |
Intron variant |
| rs1085307605 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1131692189 |
G>T |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
| rs1131692190 |
G>A |
Likely-pathogenic |
Intron variant |
| rs1131692191 |
->CATTCTG |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1131692192 |
CAAGACGTGCTCCCAGGAC>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1131692193 |
CGAAGATGGCTCGG>- |
Pathogenic |
Inframe indel, non coding transcript variant, coding sequence variant, intron variant, stop gained |
| rs1131692194 |
C>T |
Likely-pathogenic |
Coding sequence variant, intron variant, synonymous variant, non coding transcript variant |
| rs1131692195 |
GTGT>TG |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1131692196 |
C>G,T |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, intron variant, synonymous variant |
| rs1131692197 |
CAAGGACAAATCTGACGAGGAAA>- |
Pathogenic |
Inframe indel, non coding transcript variant, coding sequence variant, intron variant, stop gained |
| rs1131692198 |
GGACAAATCTGACGA>AACTGCGGTAAACTGCGGTAAACT |
Pathogenic |
Coding sequence variant, intron variant, inframe indel, non coding transcript variant |
| rs1131692200 |
G>A |
Pathogenic |
Coding sequence variant, intron variant, missense variant, non coding transcript variant |
| rs1131692201 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1131692202 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1131692213 |
A>T |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
| rs1131692214 |
AC>T |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1131692215 |
->TGT |
Pathogenic |
Coding sequence variant, inframe insertion, intron variant, non coding transcript variant |
| rs1131692216 |
C>G,T |
Pathogenic-likely-pathogenic, uncertain-significance |
Coding sequence variant, intron variant, missense variant, non coding transcript variant |
| rs1131692217 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1131692219 |
GACAAAGTATTTTGGACAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1131692220 |
C>T |
Pathogenic |
Coding sequence variant, intron variant, missense variant, non coding transcript variant |
| rs1131692221 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs1131692222 |
->CCGACC |
Likely-pathogenic |
Coding sequence variant, inframe insertion, non coding transcript variant |
| rs1131692223 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1131692224 |
GTTGCTGGCAGAGGAAATGAGAAGAAGCCC>- |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, inframe deletion |
| rs1131692225 |
TCCTCGTCTTCCTTTGC>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1131692226 |
C>G |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
| rs1135402767 |
GC>TT |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant, non coding transcript variant |
| rs1182317785 |
C>A,G |
Uncertain-significance, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs1205480064 |
C>T |
Likely-pathogenic |
Intron variant, coding sequence variant, missense variant, non coding transcript variant |
| rs1208216597 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Intron variant, non coding transcript variant, missense variant, synonymous variant, coding sequence variant |
| rs1208667598 |
C>G |
Pathogenic |
Intron variant, coding sequence variant, missense variant, non coding transcript variant |
| rs1257344396 |
C>- |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, frameshift variant |
| rs1323416354 |
C>A,T |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant, non coding transcript variant |
| rs1398808477 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1399689294 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
| rs1410295777 |
C>A,G |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1555802242 |
TGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, inframe indel, inframe deletion |
| rs1555802245 |
T>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1555802258 |
->TGTGTTT |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, inframe indel |
| rs1555802259 |
GAGTTCCAGTGCCA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555802270 |
AGACGG>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, inframe deletion |
| rs1555802275 |
T>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1555802287 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs1555802291 |
ATGGCAGCGCTGAG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555802312 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555802710 |
->A |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555802745 |
T>C |
Pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs1555802822 |
AGTGTGGCCCTGC>- |
Pathogenic |
Intron variant |
| rs1555803186 |
GCATCTCTCGGCAGT>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs1555803191 |
C>G |
Pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs1555803213 |
C>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555803254 |
->CCTGTGGTCCC |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555803257 |
TGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs1555803259 |
TGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC>A |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555803280 |
G>A |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs1555803327 |
G>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555803337 |
->GCTCGGAG |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555803354 |
G>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555803383 |
C>A |
Pathogenic |
Intron variant, coding sequence variant, stop gained, non coding transcript variant |
| rs1555803391 |
A>C |
Pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs1555803409 |
CCCGAC>- |
Pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs1555803414 |
->CAAATCTGACGA |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe insertion |
| rs1555803423 |
->AATCTGAC |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555803424 |
->AGGACAAATCTGAC |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555803426 |
->ATCTGAC |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, inframe indel, intron variant |
| rs1555803427 |
->TGAG |
Pathogenic |
Intron variant, coding sequence variant, stop gained, non coding transcript variant |
| rs1555803428 |
->GACTGCAAGGACA |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555803432 |
->ACTGCAAGGACAAATCTGAC |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555803439 |
CAAATCTGACGAGGA>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs1555803449 |
GGACAAAT>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555803455 |
ACAAA>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555803471 |
->TCAGGGAAACCCGACTGC |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe insertion |
| rs1555803481 |
A>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555803632 |
CCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTC |
Pathogenic |
Non coding transcript variant, coding sequence variant, splice donor variant, intron variant, splice acceptor variant |
| rs1555803641 |
C>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555803643 |
->A |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555803644 |
CTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs1555803701 |
GATGA>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555803837 |
->ACAAGTTCAA |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555803841 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs1555803879 |
T>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1555803891 |
T>C,G |
Uncertain-significance, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1555803898 |
A>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1555803908 |
A>G |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1555803912 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555803913 |
AAGAGTGC>GAGAGTGG |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1555804443 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555804467 |
C>A,G |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, missense variant |
| rs1555804545 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555805930 |
ACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG>- |
Pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, splice acceptor variant |
| rs1555805947 |
C>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs1555805985 |
->C |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555806019 |
ACT>- |
Uncertain-significance, pathogenic |
Non coding transcript variant, coding sequence variant, inframe deletion |
| rs1555806088 |
GGCA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555806110 |
T>C |
Pathogenic |
Splice donor variant |
| rs1555806428 |
A>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs1555806448 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, intron variant |
| rs1555806455 |
C>A,G |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, intron variant |
| rs1555806467 |
TCAACG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, inframe deletion |
| rs1555806526 |
->A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, intron variant |
| rs1555806529 |
G>CT |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, intron variant |
| rs1555806546 |
->CCTTGGCCGTCT |
Pathogenic |
Non coding transcript variant, coding sequence variant, inframe insertion, intron variant |
| rs1555806582 |
TGAGGT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, splice donor variant, intron variant |
| rs1555807206 |
->A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555807261 |
T>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1555807266 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1555807275 |
->GAGGA |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555807306 |
TGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG>- |
Pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, splice acceptor variant |
| rs1555807335 |
G>A,C |
Pathogenic |
Intron variant, splice acceptor variant |
| rs1555807356 |
A>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555807379 |
T>C |
Pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs1555807388 |
G>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555807390 |
GCCCCGCAGATCAA>C |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555807421 |
->C |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555807465 |
->C |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1555807475 |
GTGTGGCACACG>- |
Pathogenic |
Intron variant, coding sequence variant, splice donor variant, non coding transcript variant |
| rs1555808008 |
AGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, splice acceptor variant |
| rs1555808044 |
->TCAGG |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555808094 |
CCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555808107 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555808111 |
->GCTG |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555808114 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, synonymous variant |
| rs1555808118 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555808120 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555808139 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555808143 |
CGGTGGAGATAGTGACAATGTCTCACCA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555809471 |
CCTCGTCT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555809490 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555809520 |
CTTC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555809594 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1555809614 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1568591929 |
TGC>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs1568592055 |
G>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1568594903 |
AACGACC>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1568596962 |
G>- |
Likely-pathogenic |
Intron variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1568600328 |
T>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs1568600415 |
TAAGATCGGCTACG>GCA |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1568600459 |
GTGCCTGTGCCCCGA>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, inframe deletion |
| rs1568606711 |
->AC |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1568610747 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1568614967 |
G>A |
Likely-pathogenic |
Intron variant |
| rs1600704961 |
T>GG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1600711065 |
T>G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, intron variant |
| rs1600711159 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, intron variant |
| rs1600713742 |
ACTG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1600715039 |
G>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs1600715089 |
A>T |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs1600715567 |
C>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs1600720921 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1600732566 |
T>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs1600732894 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1600742966 |
T>A,G |
Pathogenic, likely-pathogenic |
Splice donor variant |
| rs1600743301 |
TG>- |
Pathogenic |
Inframe indel, non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs1600762098 |
GTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, splice donor variant |
| rs1600765031 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
