SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs34678453 |
G>-,GG |
Pathogenic |
Coding sequence variant, frameshift variant |
rs117358479 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant |
rs137852976 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
rs137852977 |
C>A,G |
Pathogenic, uncertain-significance |
Stop gained, coding sequence variant, missense variant |
rs137852978 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs137852979 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs141163928 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant, 5 prime UTR variant |
rs143454689 |
C>A,T |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
rs145551486 |
A>C,G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs184830847 |
G>A,C,T |
Likely-pathogenic, pathogenic, likely-benign |
Coding sequence variant, stop gained, synonymous variant |
rs192490028 |
A>C |
Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
rs377205344 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
rs387906934 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs748087536 |
C>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant, stop gained |
rs751053813 |
C>A,T |
Likely-pathogenic |
Stop gained, missense variant, coding sequence variant |
rs754081635 |
G>A,C |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
rs754818927 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, missense variant, coding sequence variant |
rs755357184 |
G>A,C,T |
Likely-pathogenic |
Stop gained, synonymous variant, coding sequence variant |
rs757094384 |
G>A,T |
Likely-benign, pathogenic, benign |
Synonymous variant, stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
rs763801533 |
G>A,C,T |
Likely-benign, pathogenic, uncertain-significance |
Synonymous variant, stop gained, genic upstream transcript variant, coding sequence variant, missense variant |
rs765059994 |
C>A,G |
Pathogenic, likely-pathogenic |
Splice donor variant |
rs768248216 |
G>A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
rs771634025 |
A>C,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
rs773822569 |
G>A,T |
Pathogenic, likely-benign |
Stop gained, coding sequence variant, synonymous variant |
rs781144010 |
G>A,C |
Pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant, missense variant |
rs864622626 |
G>C |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
rs875989779 |
G>C |
Pathogenic |
Coding sequence variant, stop gained |
rs875989780 |
G>C,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, stop gained |
rs875989781 |
->A |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
rs875989782 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
rs875989783 |
C>T |
Likely-pathogenic, pathogenic |
Splice donor variant |
rs875989784 |
AAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs878855241 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant |
rs878855246 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs878855262 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
rs878855274 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037650 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037651 |
TGTAGT>A |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037667 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant, genic upstream transcript variant, upstream transcript variant |
rs886037668 |
TCA>G |
Pathogenic |
Coding sequence variant, upstream transcript variant, frameshift variant, genic upstream transcript variant |
rs886037669 |
->T |
Pathogenic |
Coding sequence variant, stop gained, upstream transcript variant, genic upstream transcript variant |
rs886037670 |
C>A,T |
Pathogenic |
Upstream transcript variant, splice donor variant, genic upstream transcript variant |
rs886037671 |
C>A |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained |
rs886037672 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs886037673 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
rs886037674 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037675 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037676 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037677 |
C>- |
Pathogenic |
Coding sequence variant, splice donor variant |
rs886037678 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037679 |
->CT |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037680 |
ATTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037681 |
C>- |
Pathogenic |
Coding sequence variant, splice donor variant |
rs886037682 |
->CT,T |
Pathogenic |
Coding sequence variant, stop gained |
rs886037683 |
C>A,T |
Pathogenic |
Splice donor variant |
rs886037684 |
G>A,C |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, missense variant |
rs886037685 |
CA>- |
Pathogenic |
Coding sequence variant, stop gained |
rs886037686 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
rs886037687 |
GC>TT |
Pathogenic |
Coding sequence variant, stop gained |
rs886037688 |
->TAGT |
Pathogenic |
Coding sequence variant, stop gained |
rs886037689 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
rs886037690 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037691 |
C>A,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
rs886037692 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
rs886037693 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037694 |
GTG>TT |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037695 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037696 |
GAT>CATGAGTTCA,NNNNNNNNNN |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037697 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037698 |
G>A,C |
Pathogenic, likely-benign |
Coding sequence variant, stop gained, synonymous variant |
rs886037699 |
TTAG>- |
Pathogenic |
Coding sequence variant, stop gained |
rs886037700 |
T>-,TT |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037701 |
AATTGCTGTAA>T |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037702 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037703 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037704 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
rs886037705 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037706 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037707 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs886037708 |
G>A,C,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
rs886037709 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037710 |
TTGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037711 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs886037712 |
TCAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037713 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037714 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037715 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037716 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs886037717 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037718 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
rs886037719 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037720 |
->CT |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037721 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs886037722 |
C>G,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
rs886037723 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs886037724 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs886037725 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037726 |
TTTAC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037727 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886037728 |
T>- |
Pathogenic |
Intron variant, frameshift variant, coding sequence variant |
rs886037729 |
T>A,C |
Pathogenic, uncertain-significance |
Intron variant, missense variant, coding sequence variant |
rs886037730 |
A>C,G |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, missense variant, genic upstream transcript variant |
rs886037731 |
AGTATACC>T |
Pathogenic |
Coding sequence variant, splice acceptor variant, genic upstream transcript variant |
rs886037732 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
rs886037733 |
CTCT>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
rs1060503583 |
G>A,C |
Pathogenic |
Intron variant, missense variant, coding sequence variant, stop gained |
rs1060503584 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1060503596 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
rs1060503605 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1060503617 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1060503625 |
G>A |
Likely-pathogenic, pathogenic |
Intron variant, missense variant, coding sequence variant |
rs1060503627 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1060503628 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1060503633 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1060503640 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
rs1060503662 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1060503665 |
ATTTT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1064795904 |
GA>- |
Pathogenic-likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
rs1131691189 |
G>A,C |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, stop gained |
rs1131691190 |
->A |
Pathogenic |
Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant |
rs1131691191 |
AAGA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1131691192 |
C>A |
Pathogenic |
Splice acceptor variant |
rs1131691193 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1131691194 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1131691195 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1131691196 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1131691197 |
->T |
Pathogenic-likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
rs1131691198 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
rs1131691199 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1131691200 |
ACAA>- |
Pathogenic |
Coding sequence variant, stop gained |
rs1131691201 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1131691202 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1131691203 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant, 5 prime UTR variant |
rs1131691204 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
rs1131691205 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, stop gained |
rs1131691206 |
A>G,T |
Likely-benign, pathogenic |
Coding sequence variant, stop gained, synonymous variant |
rs1131691207 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1131691208 |
G>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, stop gained |
rs1131691209 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, 5 prime UTR variant |
rs1131691210 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1131691211 |
G>A |
Likely-pathogenic, pathogenic |
Upstream transcript variant, coding sequence variant, stop gained, genic upstream transcript variant |
rs1131691212 |
->G |
Pathogenic |
Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant |
rs1131691213 |
->ATGCAAA |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
rs1131691214 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1131691215 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1131691216 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1131691217 |
C>T |
Likely-pathogenic, pathogenic |
Splice donor variant |
rs1131691218 |
T>- |
Pathogenic |
Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant |
rs1131691219 |
G>C |
Pathogenic |
Upstream transcript variant, coding sequence variant, stop gained, genic upstream transcript variant |
rs1131691220 |
C>A |
Pathogenic |
Upstream transcript variant, coding sequence variant, stop gained, genic upstream transcript variant |
rs1131691221 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
rs1131691222 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1131691223 |
->ATCCCCCAT |
Pathogenic |
Intron variant, coding sequence variant, inframe insertion |
rs1131691224 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1131691225 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1131691227 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs1131691228 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1131691229 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1131691231 |
C>T |
Pathogenic |
Splice donor variant |
rs1131691232 |
TTTTC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1357513890 |
T>A,G |
Likely-pathogenic |
Stop gained, coding sequence variant, missense variant |
rs1406824963 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, stop gained, synonymous variant |
rs1555366197 |
G>- |
Pathogenic, uncertain-significance |
Coding sequence variant, intron variant, frameshift variant |
rs1555367522 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1555367927 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555369579 |
AATTGCTGTA>T |
Pathogenic |
Inframe deletion, coding sequence variant |
rs1555369632 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555370248 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs1555370268 |
C>AA |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555370915 |
->TTCC |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555371565 |
->GTAG |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555371596 |
->CT |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555372838 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555372851 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555373228 |
A>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
rs1555374679 |
A>- |
Pathogenic |
Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant |
rs1555374734 |
T>- |
Pathogenic |
Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant |
rs1555374772 |
->T |
Pathogenic, likely-pathogenic |
Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant |
rs1555374817 |
TTTATCTGCACACC>- |
Pathogenic |
Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant |
rs1555374839 |
C>T |
Pathogenic |
Genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant |
rs1555375333 |
C>A |
Pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant |
rs1555375356 |
->T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
rs1555375946 |
G>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
rs1555375978 |
->A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
rs1555376368 |
->TT |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
rs1555376375 |
T>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
rs1555376548 |
G>A |
Pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant, 5 prime UTR variant |
rs1566746106 |
GGAT>- |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant |
rs1566749829 |
CTATGCCGTCAGAACTCTGAAACTACAGAGACTCCTAGTTAGACCACTTTTTTCAACATCGTTTTGAACAGCACTAACCTCAGAATCCATTCCTTGCATTTCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGTA>- |
Pathogenic |
Splice donor variant, coding sequence variant, intron variant |
rs1566754840 |
G>- |
Pathogenic |
Stop gained, coding sequence variant |
rs1566766572 |
G>C |
Pathogenic |
Stop gained, coding sequence variant |
rs1566766788 |
->G |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1566767799 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1566767820 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1566768212 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1566790572 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
rs1566803555 |
C>G |
Likely-pathogenic |
Upstream transcript variant, splice acceptor variant, genic upstream transcript variant |
rs1595314576 |
G>T |
Pathogenic |
Intron variant, stop gained, coding sequence variant |
rs1595315137 |
CTCT>- |
Likely-pathogenic |
Frameshift variant, intron variant, coding sequence variant |
rs1595315343 |
C>T |
Likely-pathogenic |
Splice acceptor variant, intron variant |
rs1595331264 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs1595337717 |
TTTTC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1595338209 |
GATG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1595340380 |
GTA>TC |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1595341418 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1595341965 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1595354013 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
rs1595363556 |
A>G |
Likely-pathogenic |
Splice donor variant |
rs1595363945 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1595364159 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1595364250 |
ATAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1595365114 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1595365532 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1595365941 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1595367266 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1595367992 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1595370466 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs1595372666 |
CAGCACTGCT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1595372924 |
CTGTAAGAATTCCAAAACAAT>- |
Pathogenic |
Splice acceptor variant, intron variant, coding sequence variant |
rs1595372950 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
rs1595374375 |
C>A |
Pathogenic |
Splice acceptor variant |
rs1595379448 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
rs1595380210 |
AG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1595380836 |
G>C |
Pathogenic |
Stop gained, coding sequence variant |
rs1595381795 |
C>A |
Likely-pathogenic |
Splice donor variant |
rs1595382041 |
A>C |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1595382528 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1595394092 |
TGAA>- |
Likely-pathogenic |
Splice acceptor variant, intron variant |
rs1595396643 |
G>A,C |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant |
rs1595397289 |
C>A |
Likely-pathogenic |
Splice acceptor variant |
rs1595406359 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1595410942 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1595411687 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1595414962 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1595438021 |
->T |
Likely-pathogenic |
Upstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant |
rs1595438051 |
ATAATTCCGCACAAAA>- |
Likely-pathogenic |
Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant |
rs1595438234 |
->A |
Pathogenic |
Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant |
rs1595438347 |
CTTT>- |
Pathogenic |
Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant |
rs1595438867 |
->TC |
Pathogenic |
Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant |
rs1595447577 |
CTTTT>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
rs1595447658 |
G>T |
Likely-pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant |
rs1595448006 |
->AGCA |
Likely-pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
rs1595456594 |
CTAA>- |
Likely-pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
rs1595456687 |
CAGT>- |
Likely-pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
rs1595458724 |
A>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
rs1595462667 |
C>T |
Likely-pathogenic |
Splice donor variant, intron variant, genic upstream transcript variant |
rs1595465765 |
C>G |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
rs1595466068 |
CT>- |
Pathogenic |
5 prime UTR variant, frameshift variant, genic upstream transcript variant, coding sequence variant |
rs1595466234 |
C>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, missense variant |