| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs61756006 |
T>C |
Likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, 5 prime UTR variant, genic upstream transcript variant |
|
rs113856002 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant |
|
rs121908067 |
C>G |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant |
|
rs121908068 |
C>G,T |
Likely-benign, pathogenic |
Synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs121908069 |
G>C |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs121908070 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, intron variant, genic upstream transcript variant |
|
rs121908071 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs140815139 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs144257298 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant |
|
rs150296373 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, genic upstream transcript variant, synonymous variant, 5 prime UTR variant |
|
rs150854966 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, genic upstream transcript variant, synonymous variant, 5 prime UTR variant |
|
rs199639292 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant |
|
rs201327209 |
C>A,T |
Pathogenic, benign, likely-benign |
Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant, stop gained |
|
rs201483724 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, uncertain-significance |
Downstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs201609442 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs201857437 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs367809750 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant, stop gained |
|
rs369086894 |
T>A,C |
Pathogenic |
Stop gained, coding sequence variant, synonymous variant, genic downstream transcript variant |
|
rs374740802 |
C>G,T |
Likely-pathogenic, uncertain-significance |
Stop gained, missense variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs398124374 |
A>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs398124378 |
A>C,G |
Likely-pathogenic, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs398124379 |
TCTG>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs398124380 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs398124381 |
G>A |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs398124383 |
->C |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs545039997 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant |
|
rs570278338 |
C>G,T |
Pathogenic |
Missense variant, upstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant |
|
rs570278983 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs577262396 |
G>T |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
|
rs587784068 |
G>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784071 |
G>A |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs587784073 |
T>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784076 |
C>T |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs587784077 |
C>G,T |
Pathogenic |
Stop gained, 5 prime UTR variant, missense variant, genic upstream transcript variant, coding sequence variant |
|
rs587784078 |
ACAGA>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784079 |
AA>-,A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784080 |
GATAA>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784081 |
G>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784082 |
TACA>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784084 |
C>A,G |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs587784085 |
C>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784086 |
GAAA>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784087 |
G>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784088 |
C>A |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs587784089 |
G>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784092 |
CT>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784093 |
G>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784094 |
GT>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784095 |
C>A,T |
Pathogenic |
Stop gained, 5 prime UTR variant, genic upstream transcript variant, synonymous variant, coding sequence variant |
|
rs587784096 |
C>T |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs587784097 |
TG>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784098 |
C>T |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs587784099 |
C>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784100 |
A>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784101 |
CT>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784103 |
GTGAC>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784104 |
AG>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs587784105 |
G>A |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs587784107 |
C>T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, intron variant |
|
rs587784109 |
G>T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, intron variant |
|
rs587784110 |
C>G |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, intron variant |
|
rs587784111 |
T>G |
Pathogenic |
Genic upstream transcript variant, splice donor variant, intron variant |
|
rs587784112 |
A>-,AA |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs587784114 |
G>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs587784115 |
G>A |
Pathogenic, likely-pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs587784117 |
C>T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, upstream transcript variant |
|
rs587784118 |
C>T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, upstream transcript variant |
|
rs587784119 |
C>G |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, upstream transcript variant |
|
rs587784120 |
A>G |
Pathogenic |
Genic downstream transcript variant, downstream transcript variant, intron variant |
|
rs587784121 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, downstream transcript variant, genic downstream transcript variant |
|
rs587784122 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784123 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784124 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784125 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784126 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784127 |
G>A |
Pathogenic-likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784128 |
T>A,G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784129 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784130 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
|
rs587784131 |
G>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs587784132 |
G>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784133 |
A>T |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs587784134 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784135 |
G>A,C |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784137 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784138 |
C>G |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784139 |
G>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs587784140 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784141 |
G>C |
Pathogenic, likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs587784142 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784143 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784144 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784145 |
TTTTTTG>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784146 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784147 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784148 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784149 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784150 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784151 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784152 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784153 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784154 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784155 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784156 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784157 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784158 |
C>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784160 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, missense variant, genic downstream transcript variant |
|
rs587784162 |
T>C |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784163 |
A>G |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs587784164 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784165 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784166 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784167 |
T>A,C |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784168 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784169 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784170 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784171 |
T>C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784173 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784174 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784175 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784176 |
C>A,T |
Pathogenic |
Coding sequence variant, synonymous variant, missense variant, genic downstream transcript variant |
|
rs587784177 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784178 |
A>G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784179 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784180 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784181 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784183 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784184 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784185 |
G>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs587784186 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784187 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784188 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784189 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784190 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784191 |
A>G |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784192 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784193 |
A>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784195 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784196 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784197 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784198 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784199 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant |
|
rs587784200 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784201 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784202 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784204 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784205 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784206 |
TCT>- |
Pathogenic, likely-pathogenic |
Inframe deletion, coding sequence variant, genic downstream transcript variant |
|
rs587784207 |
GCTCCTTTTGTAAGCAGCA>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784208 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784209 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587784210 |
T>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784211 |
CAATCCTCTGGAACC>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant, genic downstream transcript variant |
|
rs587784214 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587784219 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784220 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587784221 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs749416834 |
G>A,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant, genic downstream transcript variant |
|
rs755758018 |
T>C,G |
Pathogenic, likely-benign |
Genic downstream transcript variant, intron variant |
|
rs769733603 |
G>A |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, missense variant, genic upstream transcript variant |
|
rs786205576 |
T>A |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained |
|
rs786205648 |
A>- |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs794727176 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs794727930 |
GAAA>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs794729232 |
A>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs797045057 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs797045058 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs797045804 |
->G |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs797045805 |
->A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs797045807 |
->A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs797045808 |
CT>G |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs797045809 |
->T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained |
|
rs797045810 |
->A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs797045811 |
AAGAGGA>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs797045812 |
->T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs797045813 |
->T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained |
|
rs797045814 |
->G |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs797045815 |
->A |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant |
|
rs797045816 |
A>- |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant |
|
rs797045817 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs797045819 |
->AGAGATTCCA |
Pathogenic |
Coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant |
|
rs797045820 |
->A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs797045821 |
->AA |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs797045823 |
->GACT |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs797045824 |
->C |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs797045825 |
A>G |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs797045826 |
->TG |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs797045827 |
->A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs797045828 |
->G |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs797045829 |
->A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs797045830 |
->TGTGC |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs797045831 |
->A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs797045832 |
AGCAGGTTGG>- |
Pathogenic |
Coding sequence variant, intron variant, genic downstream transcript variant, splice donor variant |
|
rs797045833 |
->CCT |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, inframe insertion |
|
rs797045834 |
A>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs863224905 |
G>C |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs864309639 |
->C |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs878853111 |
T>A |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs878855075 |
->G,GA |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs878855077 |
G>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs879253860 |
->C |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs886039578 |
CT>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained |
|
rs886039579 |
G>A,T |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs886039717 |
TGA>GG |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs886041217 |
GA>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs886041218 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs886041219 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs886041512 |
AC>G |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs886041550 |
T>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs886041615 |
G>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs886041734 |
C>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs886041832 |
TGGAACC>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs886041941 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs886042047 |
GC>A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs886042725 |
->T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs886043780 |
->T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant |
|
rs886044326 |
G>A |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1006906224 |
C>G,T |
Pathogenic |
Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, stop gained |
|
rs1057516048 |
A>T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1057517998 |
->T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1057518051 |
A>C |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1057518052 |
A>T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1057518133 |
G>T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1057518175 |
G>C |
Pathogenic |
Genic downstream transcript variant, intron variant |
|
rs1057518184 |
C>GA |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1057518286 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1057520339 |
C>T |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained |
|
rs1057520581 |
C>G |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained |
|
rs1057520620 |
G>A |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1057520671 |
G>A |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs1057520710 |
G>C |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1057521142 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1060501490 |
TGAGG>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1060501492 |
GA>- |
Pathogenic |
Upstream transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1060501493 |
C>G |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1060501494 |
C>T |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1060501497 |
T>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1060501498 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1064793218 |
G>C |
Pathogenic |
Genic upstream transcript variant, intron variant |
|
rs1064793336 |
G>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1064793361 |
G>- |
Pathogenic |
Genic downstream transcript variant, splice donor variant, coding sequence variant |
|
rs1064793616 |
->TTAA |
Pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant, 5 prime UTR variant, inframe insertion |
|
rs1064793705 |
C>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1064793843 |
C>G |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained |
|
rs1064794033 |
T>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1064794051 |
TAAG>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1064795059 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1064795588 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1064795720 |
G>C |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1064795734 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1064796081 |
->CC |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1064796114 |
C>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1064796161 |
AG>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1064796184 |
C>G |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1064796222 |
AA>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1064796568 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1064796690 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1085307903 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1131691321 |
A>C |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1131691754 |
CTTCT>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1131692328 |
C>A,G,T |
Pathogenic |
Genic upstream transcript variant, stop gained, missense variant, coding sequence variant, 5 prime UTR variant |
|
rs1286331975 |
G>A,T |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, missense variant |
|
rs1554185405 |
G>A |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant |
|
rs1554189042 |
->AG |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant |
|
rs1554189131 |
A>T |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant |
|
rs1554189269 |
->A |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant |
|
rs1554189482 |
G>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant |
|
rs1554189490 |
->AGCAAATCAAGCTC |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant |
|
rs1554189512 |
->A |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant |
|
rs1554189720 |
CT>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant |
|
rs1554189871 |
->TTCAGAGAAAAAGGGAGATGGCA |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant |
|
rs1554189879 |
C>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant |
|
rs1554189941 |
AA>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant |
|
rs1554189972 |
->TTCAGACTGTGTTACTAGG |
Likely-pathogenic |
Stop gained, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, inframe indel |
|
rs1554190214 |
TT>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant |
|
rs1554190247 |
T>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant |
|
rs1554190262 |
GT>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant |
|
rs1554190269 |
C>T |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant |
|
rs1554190292 |
C>T |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant |
|
rs1554195302 |
C>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant |
|
rs1554195815 |
AGGTAA>G |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, intron variant, splice acceptor variant |
|
rs1554195840 |
->CT |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant |
|
rs1554195857 |
AGGG>- |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant |
|
rs1554197794 |
TGTC>- |
Pathogenic |
Coding sequence variant, frameshift variant, downstream transcript variant, genic downstream transcript variant |
|
rs1554198434 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1554199368 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1554199383 |
T>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1554199392 |
->CT |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1554199501 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1554200200 |
ATC>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion, genic downstream transcript variant |
|
rs1554200207 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1554200214 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1554201713 |
C>G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1554201740 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1554202205 |
TTCC>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1554204102 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1554204122 |
T>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1554204165 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1554204587 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1554204594 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1554204648 |
G>T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1554204905 |
TTTTGGAATTCTAGGACCGAA>C |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, intron variant, splice acceptor variant |
|
rs1554204921 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1554204923 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1554204952 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1554205939 |
A>G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1554206783 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1554206836 |
->G |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1554206845 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1554207244 |
->T |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1554207316 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1554207344 |
CC>GAT |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1554207690 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1562097849 |
C>A |
Pathogenic |
Intron variant, stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
|
rs1562099585 |
C>- |
Pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1562205351 |
T>GA |
Pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant |
|
rs1562206791 |
A>- |
Pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant |
|
rs1562209222 |
A>T |
Pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant, 5 prime UTR variant |
|
rs1562212423 |
C>T |
Pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant, 5 prime UTR variant |
|
rs1562212484 |
T>A |
Pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant, 5 prime UTR variant |
|
rs1562213291 |
->T |
Pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant, 5 prime UTR variant |
|
rs1562213381 |
A>- |
Pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant |
|
rs1562213553 |
->A |
Pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant |
|
rs1562246533 |
G>A |
Pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs1562265336 |
->T |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1562269320 |
->G |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1562278357 |
G>C |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1562292879 |
C>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1562292890 |
C>G |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1562295135 |
->T |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1562296511 |
G>A |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs1562305497 |
A>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1562305653 |
T>G |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1562305920 |
T>G |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1562312238 |
GACA>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1581254366 |
CAC>T |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1581314832 |
AT>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1581315609 |
C>T |
Pathogenic |
5 prime UTR variant, coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1581316964 |
G>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1581318949 |
->A |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1581319715 |
TC>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1581319867 |
->TGAGAACTCGTTAATAAAGGGTGGGGCAG |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant, inframe indel, 5 prime UTR variant |
|
rs1581321541 |
C>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1581321573 |
T>G |
Pathogenic |
5 prime UTR variant, coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1581323431 |
T>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1581326628 |
->T |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1581407682 |
G>C |
Pathogenic |
Intron variant, splice acceptor variant, genic upstream transcript variant |
|
rs1581408152 |
C>T |
Pathogenic |
Intron variant, coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1581411423 |
G>A |
Likely-pathogenic |
Splice acceptor variant, genic upstream transcript variant |
|
rs1581411478 |
C>T |
Pathogenic |
5 prime UTR variant, coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1581429903 |
A>G |
Likely-pathogenic |
Upstream transcript variant, splice acceptor variant, genic upstream transcript variant |
|
rs1581433729 |
->TCCT |
Likely-pathogenic |
Frameshift variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant |
|
rs1581457332 |
A>G |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1581468355 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1581491984 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1581497515 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1581527566 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1581527842 |
A>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1581527915 |
T>G |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1581535570 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1581535605 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1581548112 |
A>T |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1581558015 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1581563059 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1581564208 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |