Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.115738152delCA2647280039CASQ2c.256+75del (n.256+75del)
c.532+75del (n.532+75del)
 gnomAD v4
1g.115738152_115738154delinsTGGCA1190729219CASQ2c.256+70_256+72delinsCCA (n.256+70_256+72delinsCCA)
c.532+70_532+72delinsCCA (n.532+70_532+72delinsCCA)
1g.115738153G>ACA2647280041CASQ2c.256+71C>T (n.256+71C>T)
c.532+71C>T (n.532+71C>T)
 gnomAD v4
1g.115738153G>TCA2647280042CASQ2c.256+71C>A (n.256+71C>A)
c.532+71C>A (n.532+71C>A)
 gnomAD v4
1g.115738156delCA29603464CASQ2c.256+71del (n.256+71del)
c.532+71del (n.532+71del)
 dbSNP gnomAD v3 gnomAD v4
1g.115738155_115738156delCA885950353CASQ2c.256+70_256+71del (n.256+70_256+71del)
c.532+70_532+71del (n.532+70_532+71del)
 dbSNP gnomAD v3 gnomAD v4
1g.115738154G>TCA2574037218CASQ2c.256+70C>A (n.256+70C>A)
c.532+70C>A (n.532+70C>A)
 gnomAD v4
1g.115738155G>CCA29603465CASQ2c.256+69C>G (n.256+69C>G)
c.532+69C>G (n.532+69C>G)
 dbSNP gnomAD v3 gnomAD v4
1g.115738155G=CA1190729220CASQ2c.256+69C= (n.256+69C=)
c.532+69C= (n.532+69C=)
1g.115738155G>TCA646003723CASQ2c.256+69C>A (n.256+69C>A)
c.532+69C>A (n.532+69C>A)
 COSMIC
1g.115738156G>ACA2647280043CASQ2c.256+68C>T (n.256+68C>T)
c.532+68C>T (n.532+68C>T)
 gnomAD v4
1g.115738156G=CA1190729221CASQ2c.256+68C= (n.256+68C=)
c.532+68C= (n.532+68C=)
1g.115738156G>TCA885950354CASQ2c.256+68C>A (n.256+68C>A)
c.532+68C>A (n.532+68C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.115738158A>GCA2647280045CASQ2c.256+66T>C (n.256+66T>C)
c.532+66T>C (n.532+66T>C)
 gnomAD v4
1g.115738158A>TCA2647280046CASQ2c.256+66T>A (n.256+66T>A)
c.532+66T>A (n.532+66T>A)
 gnomAD v4
1g.115738159delCA2647280044CASQ2c.256+66del (n.256+66del)
c.532+66del (n.532+66del)
 gnomAD v4
1g.115738160C>ACA2647280047CASQ2c.256+64G>T (n.256+64G>T)
c.532+64G>T (n.532+64G>T)
 gnomAD v4
1g.115738160C=CA1190729222CASQ2c.256+64G= (n.256+64G=)
c.532+64G= (n.532+64G=)
1g.115738160C>TCA29603466CASQ2c.256+64G>A (n.256+64G>A)
c.532+64G>A (n.532+64G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.115738160_115738164delinsCCTGACA1190729223CASQ2c.256+60_256+64delinsTCAGG (n.256+60_256+64delinsTCAGG)
c.532+60_532+64delinsTCAGG (n.532+60_532+64delinsTCAGG)
1g.115738162_115738165delCA1190729224CASQ2c.256+60_256+63del (n.256+60_256+63del)
c.532+60_532+63del (n.532+60_532+63del)
 dbSNP gnomAD v4
1g.115738162T>CCA1006061614CASQ2c.256+62A>G (n.256+62A>G)
c.532+62A>G (n.532+62A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.115738162T=CA1190729225CASQ2c.256+62A= (n.256+62A=)
c.532+62A= (n.532+62A=)
1g.115738163G>TCA2574037220CASQ2c.256+61C>A (n.256+61C>A)
c.532+61C>A (n.532+61C>A)
 gnomAD v4
1g.115738164A=CA1142858741CASQ2c.256+60T= (n.256+60T=)
c.532+60T= (n.532+60T=)
1g.115738164A>GCA29603469CASQ2c.256+60T>C (n.256+60T>C)
c.532+60T>C (n.532+60T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.115738165C=CA1190729226CASQ2c.256+59G= (n.256+59G=)
c.532+59G= (n.532+59G=)
1g.115738165C>TCA885950356CASQ2c.256+59G>A (n.256+59G>A)
c.532+59G>A (n.532+59G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.115738166A>CCA2647280048CASQ2c.256+58T>G (n.256+58T>G)
c.532+58T>G (n.532+58T>G)
 gnomAD v4
1g.115738166A>GCA2647280049CASQ2c.256+58T>C (n.256+58T>C)
c.532+58T>C (n.532+58T>C)
 gnomAD v4
1g.115738167T>ACA1190729228CASQ2c.256+57A>T (n.256+57A>T)
c.532+57A>T (n.532+57A>T)
 dbSNP gnomAD v4
1g.115738167T=CA1190729227CASQ2c.256+57A= (n.256+57A=)
c.532+57A= (n.532+57A=)
1g.115738168A=CA1190729229CASQ2c.256+56T= (n.256+56T=)
c.532+56T= (n.532+56T=)
1g.115738168A>GCA525428096CASQ2c.256+56T>C (n.256+56T>C)
c.532+56T>C (n.532+56T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.115738169C=CA1190729230CASQ2c.256+55G= (n.256+55G=)
c.532+55G= (n.532+55G=)
1g.115738169C>GCA885950357CASQ2c.256+55G>C (n.256+55G>C)
c.532+55G>C (n.532+55G>C)
 dbSNP gnomAD v4
1g.115738169C>TCA2647280051CASQ2c.256+55G>A (n.256+55G>A)
c.532+55G>A (n.532+55G>A)
 gnomAD v4
1g.115738170delCA2647280050CASQ2c.256+55del (n.256+55del)
c.532+55del (n.532+55del)
 gnomAD v4
1g.115738170C=CA1190729231CASQ2c.256+54G= (n.256+54G=)
c.532+54G= (n.532+54G=)
1g.115738170C>GCA1190729232CASQ2c.256+54G>C (n.256+54G>C)
c.532+54G>C (n.532+54G>C)
 dbSNP
1g.115738170C>TCA2647280052CASQ2c.256+54G>A (n.256+54G>A)
c.532+54G>A (n.532+54G>A)
 gnomAD v4
1g.115738171T>CCA2647280053CASQ2c.256+53A>G (n.256+53A>G)
c.532+53A>G (n.532+53A>G)
 gnomAD v4
1g.115738173G>ACA2647280054CASQ2c.256+51C>T (n.256+51C>T)
c.532+51C>T (n.532+51C>T)
 gnomAD v4
1g.115738173G>TCA2647280055CASQ2c.256+51C>A (n.256+51C>A)
c.532+51C>A (n.532+51C>A)
 gnomAD v4
1g.115738173_115738174delinsGTCA1190729233CASQ2c.256+50_256+51delinsAC (n.256+50_256+51delinsAC)
c.532+50_532+51delinsAC (n.532+50_532+51delinsAC)
1g.115738174T>CCA525428098CASQ2c.256+50A>G (n.256+50A>G)
c.532+50A>G (n.532+50A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.115738174T=CA1190729234CASQ2c.256+50A= (n.256+50A=)
c.532+50A= (n.532+50A=)
1g.115738176delCA525428097CASQ2c.256+50del (n.256+50del)
c.532+50del (n.532+50del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.115738175T>ACA525428099CASQ2c.256+49A>T (n.256+49A>T)
c.532+49A>T (n.532+49A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.115738175T>CCA1190729235CASQ2c.256+49A>G (n.256+49A>G)
c.532+49A>G (n.532+49A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.115738175T=CA1190729236CASQ2c.256+49A= (n.256+49A=)
c.532+49A= (n.532+49A=)
1g.115738176T>GCA1023883CASQ2c.256+48A>C (n.256+48A>C)
c.532+48A>C (n.532+48A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738176T=CA1146064490CASQ2c.256+48A= (n.256+48A=)
c.532+48A= (n.532+48A=)
1g.115738177G>ACA885950361CASQ2c.256+47C>T (n.256+47C>T)
c.532+47C>T (n.532+47C>T)
 dbSNP
1g.115738177G>CCA1190729238CASQ2c.256+47C>G (n.256+47C>G)
c.532+47C>G (n.532+47C>G)
 dbSNP gnomAD v4
1g.115738177G=CA1190729237CASQ2c.256+47C= (n.256+47C=)
c.532+47C= (n.532+47C=)
1g.115738177G>TCA2647280056CASQ2c.256+47C>A (n.256+47C>A)
c.532+47C>A (n.532+47C>A)
 gnomAD v4
1g.115738178G>TCA2647280057CASQ2c.256+46C>A (n.256+46C>A)
c.532+46C>A (n.532+46C>A)
 gnomAD v4
1g.115738179A>CCA2647280058CASQ2c.256+45T>G (n.256+45T>G)
c.532+45T>G (n.532+45T>G)
 gnomAD v4
1g.115738180A=CA1190729239CASQ2c.256+44T= (n.256+44T=)
c.532+44T= (n.532+44T=)
1g.115738180A>GCA1006061620CASQ2c.256+44T>C (n.256+44T>C)
c.532+44T>C (n.532+44T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.115738180A>TCA525428100CASQ2c.256+44T>A (n.256+44T>A)
c.532+44T>A (n.532+44T>A)
 dbSNP gnomAD v2 gnomAD v4
1g.115738181T>ACA2574037223CASQ2c.256+43A>T (n.256+43A>T)
c.532+43A>T (n.532+43A>T)
1g.115738182C=CA1141849014CASQ2c.256+42G= (n.256+42G=)
c.532+42G= (n.532+42G=)
1g.115738182C>GCA1023884CASQ2c.256+42G>C (n.256+42G>C)
c.532+42G>C (n.532+42G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738186C=CA1148283233CASQ2c.256+38G= (n.256+38G=)
c.532+38G= (n.532+38G=)
1g.115738186C>TCA1023885CASQ2c.256+38G>A (n.256+38G>A)
c.532+38G>A (n.532+38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738189T>CCA2574037224CASQ2c.256+35A>G (n.256+35A>G)
c.532+35A>G (n.532+35A>G)
1g.115738191delCA2647280059CASQ2c.256+33del (n.256+33del)
c.532+33del (n.532+33del)
 gnomAD v4
1g.115738191A>TCA2647280060CASQ2c.256+33T>A (n.256+33T>A)
c.532+33T>A (n.532+33T>A)
 gnomAD v4
1g.115738192G>CCA2647280061CASQ2c.256+32C>G (n.256+32C>G)
c.532+32C>G (n.532+32C>G)
 gnomAD v4
1g.115738192G=CA1190729240CASQ2c.256+32C= (n.256+32C=)
c.532+32C= (n.532+32C=)
1g.115738192G>TCA1023886CASQ2c.256+32C>A (n.256+32C>A)
c.532+32C>A (n.532+32C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738196G>TCA2647280062CASQ2c.256+28C>A (n.256+28C>A)
c.532+28C>A (n.532+28C>A)
 gnomAD v4
1g.115738197A=CA1190729241CASQ2c.256+27T= (n.256+27T=)
c.532+27T= (n.532+27T=)
1g.115738197A>GCA885950364CASQ2c.256+27T>C (n.256+27T>C)
c.532+27T>C (n.532+27T>C)
 dbSNP gnomAD v4
1g.115738198T>ACA2647280063CASQ2c.256+26A>T (n.256+26A>T)
c.532+26A>T (n.532+26A>T)
 gnomAD v4
1g.115738199C=CA1144283043CASQ2c.256+25G= (n.256+25G=)
c.532+25G= (n.532+25G=)
1g.115738199C>GCA2574037225CASQ2c.256+25G>C (n.256+25G>C)
c.532+25G>C (n.532+25G>C)
 gnomAD v4
1g.115738199C>TCA1023887CASQ2c.256+25G>A (n.256+25G>A)
c.532+25G>A (n.532+25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738200G>ACA29603477CASQ2c.256+24C>T (n.256+24C>T)
c.532+24C>T (n.532+24C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.115738200G=CA1190729242CASQ2c.256+24C= (n.256+24C=)
c.532+24C= (n.532+24C=)
1g.115738200G>TCA2574037228CASQ2c.256+24C>A (n.256+24C>A)
c.532+24C>A (n.532+24C>A)
 gnomAD v4
1g.115738201G>TCA646003724CASQ2c.256+23C>A (n.256+23C>A)
c.532+23C>A (n.532+23C>A)
 gnomAD v4 COSMIC COSMIC COSMIC
1g.115738202C=CA1190729243CASQ2c.256+22G= (n.256+22G=)
c.532+22G= (n.532+22G=)
1g.115738202C>TCA525428101CASQ2c.256+22G>A (n.256+22G>A)
c.532+22G>A (n.532+22G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.115738203T>CCA1023888CASQ2c.256+21A>G (n.256+21A>G)
c.532+21A>G (n.532+21A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738203T>GCA2647280064CASQ2c.256+21A>C (n.256+21A>C)
c.532+21A>C (n.532+21A>C)
 gnomAD v4
1g.115738203T=CA1149073654CASQ2c.256+21A= (n.256+21A=)
c.532+21A= (n.532+21A=)
1g.115738204G>ACA2647280065CASQ2c.256+20C>T (n.256+20C>T)
c.532+20C>T (n.532+20C>T)
 gnomAD v4
1g.115738204G>TCA2647280066CASQ2c.256+20C>A (n.256+20C>A)
c.532+20C>A (n.532+20C>A)
 gnomAD v4
1g.115738207delCA2574037231CASQ2c.256+20del (n.256+20del)
c.532+20del (n.532+20del)
1g.115738205G>TCA2647280067CASQ2c.256+19C>A (n.256+19C>A)
c.532+19C>A (n.532+19C>A)
 gnomAD v4
1g.115738206G>ACA1190729245CASQ2c.256+18C>T (n.256+18C>T)
c.532+18C>T (n.532+18C>T)
 dbSNP
1g.115738206G=CA1190729244CASQ2c.256+18C= (n.256+18C=)
c.532+18C= (n.532+18C=)
1g.115738206G>TCA2647280068CASQ2c.256+18C>A (n.256+18C>A)
c.532+18C>A (n.532+18C>A)
 gnomAD v4
1g.115738207G>ACA1023889CASQ2c.256+17C>T (n.256+17C>T)
c.532+17C>T (n.532+17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738207G=CA1190729246CASQ2c.256+17C= (n.256+17C=)
c.532+17C= (n.532+17C=)
1g.115738207G>TCA1023890CASQ2c.256+17C>A (n.256+17C>A)
c.532+17C>A (n.532+17C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.115738208T>ACA2647280069CASQ2c.256+16A>T (n.256+16A>T)
c.532+16A>T (n.532+16A>T)
 gnomAD v4
1g.115738208T>GCA525428109CASQ2c.256+16A>C (n.256+16A>C)
c.532+16A>C (n.532+16A>C)
 dbSNP gnomAD v2 gnomAD v4
1g.115738208T=CA1190729247CASQ2c.256+16A= (n.256+16A=)
c.532+16A= (n.532+16A=)
1g.115738210G>ACA1006061631CASQ2c.256+14C>T (n.256+14C>T)
c.532+14C>T (n.532+14C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.115738210G=CA1190729248CASQ2c.256+14C= (n.256+14C=)
c.532+14C= (n.532+14C=)
1g.115738210G>TCA2574037235CASQ2c.256+14C>A (n.256+14C>A)
c.532+14C>A (n.532+14C>A)
 ClinVar gnomAD v4
1g.115738211G>ACA885950374CASQ2c.256+13C>T (n.256+13C>T)
c.532+13C>T (n.532+13C>T)
 ClinVar dbSNP gnomAD v4
1g.115738211G=CA1190729249CASQ2c.256+13C= (n.256+13C=)
c.532+13C= (n.532+13C=)
1g.115738211G>TCA2647280070CASQ2c.256+13C>A (n.256+13C>A)
c.532+13C>A (n.532+13C>A)
 gnomAD v4
1g.115738212C>TCA2647280071CASQ2c.256+12G>A (n.256+12G>A)
c.532+12G>A (n.532+12G>A)
 gnomAD v4
1g.115738213A>GCA2647280072CASQ2c.256+11T>C (n.256+11T>C)
c.532+11T>C (n.532+11T>C)
 gnomAD v4
1g.115738213A>TCA2574037236CASQ2c.256+11T>A (n.256+11T>A)
c.532+11T>A (n.532+11T>A)
1g.115738214G>ACA2647280073CASQ2c.256+10C>T (n.256+10C>T)
c.532+10C>T (n.532+10C>T)
 gnomAD v4
1g.115738214G>TCA2647280074CASQ2c.256+10C>A (n.256+10C>A)
c.532+10C>A (n.532+10C>A)
 gnomAD v4
1g.115738215A=CA1190729250CASQ2c.256+9T= (n.256+9T=)
c.532+9T= (n.532+9T=)
1g.115738215A>CCA915941391CASQ2c.256+9T>G (n.256+9T>G)
c.532+9T>G (n.532+9T>G)
 ClinVar dbSNP gnomAD v4
1g.115738215A>GCA885950375CASQ2c.256+9T>C (n.256+9T>C)
c.532+9T>C (n.532+9T>C)
 dbSNP gnomAD v4
1g.115738216C>ACA2739275189CASQ2c.256+8G>T (n.256+8G>T)
c.532+8G>T (n.532+8G>T)
 ClinVar
1g.115738216C=CA1190729251CASQ2c.256+8G= (n.256+8G=)
c.532+8G= (n.532+8G=)
1g.115738217A=CA1190729252CASQ2c.256+7T= (n.256+7T=)
c.532+7T= (n.532+7T=)
1g.115738217A>CCA1006061633CASQ2c.256+7T>G (n.256+7T>G)
c.532+7T>G (n.532+7T>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.115738217_115738218dupCA1190729253CASQ2c.256+6_256+7dup (n.256+6_256+7dup)
c.532+6_532+7dup (n.532+6_532+7dup)
 dbSNP
1g.115738218A>GCA2574037237CASQ2c.256+6T>C (n.256+6T>C)
c.532+6T>C (n.532+6T>C)
 gnomAD v4
1g.115738218A>TCA2647280075CASQ2c.256+6T>A (n.256+6T>A)
c.532+6T>A (n.532+6T>A)
 gnomAD v4
1g.115738220T>CCA2647280076CASQ2c.256+4A>G (n.256+4A>G)
c.532+4A>G (n.532+4A>G)
 gnomAD v4
1g.115738222A=CA1190729254CASQ2c.256+2T= (n.256+2T=)
c.532+2T= (n.532+2T=)
1g.115738222A>CCA341763770CASQ2c.256+2T>G (n.256+2T>G)
c.532+2T>G (n.532+2T>G)
1g.115738222A>GCA1023891CASQ2c.256+2T>C (n.256+2T>C)
c.532+2T>C (n.532+2T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738222A>TCA341763771CASQ2c.256+2T>A (n.256+2T>A)
c.532+2T>A (n.532+2T>A)
1g.115738223C>ACA341763772CASQ2c.256+1G>T (n.256+1G>T)
c.532+1G>T (n.532+1G>T)
1g.115738223C=CA1190729255CASQ2c.256+1G= (n.256+1G=)
c.532+1G= (n.532+1G=)
1g.115738223C>GCA341763773CASQ2c.256+1G>C (n.256+1G>C)
c.532+1G>C (n.532+1G>C)
1g.115738223C>TCA341763774CASQ2c.256+1G>A (n.256+1G>A)
c.532+1G>A (n.532+1G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.115738224A=CA1190729256CASQ2c.256T= (p.Tyr86=)
c.532T= (p.Tyr178=)
1g.115738224A>CCA341763775CASQ2c.256T>G (p.Tyr86Asp)
c.532T>G (p.Tyr178Asp)
1g.115738224A>GCA341763776CASQ2c.256T>C (p.Tyr86His)
c.532T>C (p.Tyr178His)
 ClinVar dbSNP gnomAD v4
1g.115738224A>TCA341763777CASQ2c.256T>A (p.Tyr86Asn)
c.532T>A (p.Tyr178Asn)
1g.115738225T>ACA341763778CASQ2c.255A>T (p.Glu85Asp)
c.531A>T (p.Glu177Asp)
 dbSNP
1g.115738225T>CCA419895461CASQ2c.255A>G (p.Glu85=)
c.531A>G (p.Glu177=)
 gnomAD v4
1g.115738225T>GCA341763779CASQ2c.255A>C (p.Glu85Asp)
c.531A>C (p.Glu177Asp)
1g.115738225T=CA1190729257CASQ2c.255A= (p.Glu85=)
c.531A= (p.Glu177=)
1g.115738226T>ACA341763780CASQ2c.254A>T (p.Glu85Val)
c.530A>T (p.Glu177Val)
 gnomAD v4
1g.115738226T>CCA341763781CASQ2c.254A>G (p.Glu85Gly)
c.530A>G (p.Glu177Gly)
1g.115738226T>GCA341763782CASQ2c.254A>C (p.Glu85Ala)
c.530A>C (p.Glu177Ala)
1g.115738227C>ACA341763785CASQ2c.253G>T (p.Glu85Ter)
c.529G>T (p.Glu177Ter)
1g.115738227C>GCA341763783CASQ2c.253G>C (p.Glu85Gln)
c.529G>C (p.Glu177Gln)
1g.115738227C>TCA341763784CASQ2c.253G>A (p.Glu85Lys)
c.529G>A (p.Glu177Lys)
1g.115738228T>ACA419895471CASQ2c.252A>T (p.Ser84=)
c.528A>T (p.Ser176=)
1g.115738228T>CCA419895467CASQ2c.252A>G (p.Ser84=)
c.528A>G (p.Ser176=)
 gnomAD v4
1g.115738228T>GCA419895466CASQ2c.252A>C (p.Ser84=)
c.528A>C (p.Ser176=)
1g.115738229G>ACA341763786CASQ2c.251C>T (p.Ser84Leu)
c.527C>T (p.Ser176Leu)
1g.115738229G>CCA341763787CASQ2c.251C>G (p.Ser84Ter)
c.527C>G (p.Ser176Ter)
1g.115738229G>TCA341763788CASQ2c.251C>A (p.Ser84Ter)
c.527C>A (p.Ser176Ter)
 gnomAD v4
1g.115738230A=CA1190729258CASQ2c.250T= (p.Ser84=)
c.526T= (p.Ser176=)
1g.115738230A>CCA341763789CASQ2c.250T>G (p.Ser84Ala)
c.526T>G (p.Ser176Ala)
1g.115738230A>GCA341763790CASQ2c.250T>C (p.Ser84Pro)
c.526T>C (p.Ser176Pro)
 dbSNP gnomAD v4
1g.115738230A>TCA341763791CASQ2c.250T>A (p.Ser84Thr)
c.526T>A (p.Ser176Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.115738231G>ACA419895474CASQ2c.249C>T (p.Asp83=)
c.525C>T (p.Asp175=)
 gnomAD v4
1g.115738231G>CCA341763792CASQ2c.249C>G (p.Asp83Glu)
c.525C>G (p.Asp175Glu)
1g.115738231G>TCA341763793CASQ2c.249C>A (p.Asp83Glu)
c.525C>A (p.Asp175Glu)
 gnomAD v4
1g.115738232T>ACA341763794CASQ2c.248A>T (p.Asp83Val)
c.524A>T (p.Asp175Val)
1g.115738232T>CCA341763795CASQ2c.248A>G (p.Asp83Gly)
c.524A>G (p.Asp175Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.115738232T>GCA341763796CASQ2c.248A>C (p.Asp83Ala)
c.524A>C (p.Asp175Ala)
1g.115738232T=CA1190729259CASQ2c.248A= (p.Asp83=)
c.524A= (p.Asp175=)
1g.115738233C>ACA341763798CASQ2c.247G>T (p.Asp83Tyr)
c.523G>T (p.Asp175Tyr)
 dbSNP
1g.115738233C=CA1190729260CASQ2c.247G= (p.Asp83=)
c.523G= (p.Asp175=)
1g.115738233C>GCA341763799CASQ2c.247G>C (p.Asp83His)
c.523G>C (p.Asp175His)
1g.115738233C>TCA341763797CASQ2c.247G>A (p.Asp83Asn)
c.523G>A (p.Asp175Asn)
1g.115738234C>ACA341763800CASQ2c.246G>T (p.Glu82Asp)
c.522G>T (p.Glu174Asp)
1g.115738234C>GCA341763801CASQ2c.246G>C (p.Glu82Asp)
c.522G>C (p.Glu174Asp)
1g.115738234C>TCA419895475CASQ2c.246G>A (p.Glu82=)
c.522G>A (p.Glu174=)
 ClinVar dbSNP
1g.115738235delCA2647280077CASQ2c.245del (p.Glu82GlyfsTer?)
c.521del (p.Glu174GlyfsTer?)
 gnomAD v4
1g.115738235T>ACA341763802CASQ2c.245A>T (p.Glu82Val)
c.521A>T (p.Glu174Val)
1g.115738235T>CCA341763803CASQ2c.245A>G (p.Glu82Gly)
c.521A>G (p.Glu174Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.115738235T>GCA341763804CASQ2c.245A>C (p.Glu82Ala)
c.521A>C (p.Glu174Ala)
1g.115738235T=CA1190729261CASQ2c.245A= (p.Glu82=)
c.521A= (p.Glu174=)
1g.115738236C>ACA341763805CASQ2c.244G>T (p.Glu82Ter)
c.520G>T (p.Glu174Ter)
1g.115738236C>GCA341763806CASQ2c.244G>C (p.Glu82Gln)
c.520G>C (p.Glu174Gln)
1g.115738236C>TCA341763807CASQ2c.244G>A (p.Glu82Lys)
c.520G>A (p.Glu174Lys)
1g.115738237A=CA1190729262CASQ2c.243T= (p.Ser81=)
c.519T= (p.Ser173=)
1g.115738237A>CCA341763808CASQ2c.243T>G (p.Ser81Arg)
c.519T>G (p.Ser173Arg)
1g.115738237A>GCA29603512CASQ2c.243T>C (p.Ser81=)
c.519T>C (p.Ser173=)
 ClinVar dbSNP gnomAD v4
1g.115738237A>TCA341763809CASQ2c.243T>A (p.Ser81Arg)
c.519T>A (p.Ser173Arg)
1g.115738238C>ACA301897CASQ2c.242G>T (p.Ser81Ile)
c.518G>T (p.Ser173Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.115738238C=CA1190729263CASQ2c.242G= (p.Ser81=)
c.518G= (p.Ser173=)
1g.115738238C>GCA341763810CASQ2c.242G>C (p.Ser81Thr)
c.518G>C (p.Ser173Thr)
1g.115738238C>TCA341763811CASQ2c.242G>A (p.Ser81Asn)
c.518G>A (p.Ser173Asn)
 gnomAD v4 COSMIC
1g.115738239T>ACA341763814CASQ2c.241A>T (p.Ser81Cys)
c.517A>T (p.Ser173Cys)
1g.115738239T>CCA341763813CASQ2c.241A>G (p.Ser81Gly)
c.517A>G (p.Ser173Gly)
1g.115738239T>GCA341763812CASQ2c.241A>C (p.Ser81Arg)
c.517A>C (p.Ser173Arg)
1g.115738240C>ACA341763815CASQ2c.240G>T (p.Lys80Asn)
c.516G>T (p.Lys172Asn)
1g.115738240C>GCA341763816CASQ2c.240G>C (p.Lys80Asn)
c.516G>C (p.Lys172Asn)
1g.115738240C>TCA419895478CASQ2c.240G>A (p.Lys80=)
c.516G>A (p.Lys172=)
1g.115738241T>ACA341763817CASQ2c.239A>T (p.Lys80Met)
c.515A>T (p.Lys172Met)
1g.115738241T>CCA341763818CASQ2c.239A>G (p.Lys80Arg)
c.515A>G (p.Lys172Arg)
1g.115738241T>GCA341763819CASQ2c.239A>C (p.Lys80Thr)
c.515A>C (p.Lys172Thr)
1g.115738242T>ACA341763820CASQ2c.238A>T (p.Lys80Ter)
c.514A>T (p.Lys172Ter)
1g.115738242T>CCA341763821CASQ2c.238A>G (p.Lys80Glu)
c.514A>G (p.Lys172Glu)
1g.115738242T>GCA341763822CASQ2c.238A>C (p.Lys80Gln)
c.514A>C (p.Lys172Gln)
1g.115738243G>ACA419895479CASQ2c.237C>T (p.Phe79=)
c.513C>T (p.Phe171=)
 dbSNP gnomAD v4
1g.115738243G>CCA341763823CASQ2c.237C>G (p.Phe79Leu)
c.513C>G (p.Phe171Leu)
1g.115738243G=CA1190729264CASQ2c.237C= (p.Phe79=)
c.513C= (p.Phe171=)
1g.115738243G>TCA341763824CASQ2c.237C>A (p.Phe79Leu)
c.513C>A (p.Phe171Leu)
1g.115738244A=CA1190729265CASQ2c.236T= (p.Phe79=)
c.512T= (p.Phe171=)
1g.115738244A>CCA341763825CASQ2c.236T>G (p.Phe79Cys)
c.512T>G (p.Phe171Cys)
1g.115738244A>GCA341763826CASQ2c.236T>C (p.Phe79Ser)
c.512T>C (p.Phe171Ser)
 dbSNP
1g.115738244A>TCA341763827CASQ2c.236T>A (p.Phe79Tyr)
c.512T>A (p.Phe171Tyr)
 gnomAD v4
1g.115738245A>CCA341763828CASQ2c.235T>G (p.Phe79Val)
c.511T>G (p.Phe171Val)
1g.115738245A>GCA341763830CASQ2c.235T>C (p.Phe79Leu)
c.511T>C (p.Phe171Leu)
1g.115738245A>TCA341763829CASQ2c.235T>A (p.Phe79Ile)
c.511T>A (p.Phe171Ile)
1g.115738246A>CCA341763831CASQ2c.234T>G (p.Phe78Leu)
c.510T>G (p.Phe170Leu)
1g.115738246A>GCA419895480CASQ2c.234T>C (p.Phe78=)
c.510T>C (p.Phe170=)
1g.115738246A>TCA341763832CASQ2c.234T>A (p.Phe78Leu)
c.510T>A (p.Phe170Leu)
1g.115738247A>CCA341763833CASQ2c.233T>G (p.Phe78Cys)
c.509T>G (p.Phe170Cys)
1g.115738247A>GCA341763835CASQ2c.233T>C (p.Phe78Ser)
c.509T>C (p.Phe170Ser)
1g.115738247A>TCA341763834CASQ2c.233T>A (p.Phe78Tyr)
c.509T>A (p.Phe170Tyr)
1g.115738248A>CCA341763836CASQ2c.232T>G (p.Phe78Val)
c.508T>G (p.Phe170Val)
 gnomAD v4
1g.115738248A>GCA341763837CASQ2c.232T>C (p.Phe78Leu)
c.508T>C (p.Phe170Leu)
1g.115738248A>TCA341763838CASQ2c.232T>A (p.Phe78Ile)
c.508T>A (p.Phe170Ile)
1g.115738249delCA645523451CASQ2c.231del (p.Phe79SerfsTer?)
c.507del (p.Phe171SerfsTer?)
 COSMIC
1g.115738249G>ACA419895481CASQ2c.231C>T (p.Gly77=)
c.507C>T (p.Gly169=)
1g.115738249G>CCA419895482CASQ2c.231C>G (p.Gly77=)
c.507C>G (p.Gly169=)
1g.115738249G>TCA419895483CASQ2c.231C>A (p.Gly77=)
c.507C>A (p.Gly169=)
1g.115738250C>ACA341763839CASQ2c.230G>T (p.Gly77Val)
c.506G>T (p.Gly169Val)
1g.115738250C>GCA341763840CASQ2c.230G>C (p.Gly77Ala)
c.506G>C (p.Gly169Ala)
1g.115738250C>TCA341763841CASQ2c.230G>A (p.Gly77Asp)
c.506G>A (p.Gly169Asp)
1g.115738251C>ACA341763843CASQ2c.229G>T (p.Gly77Cys)
c.505G>T (p.Gly169Cys)
 gnomAD v4
1g.115738251C=CA1190729266CASQ2c.229G= (p.Gly77=)
c.505G= (p.Gly169=)
1g.115738251C>GCA341763842CASQ2c.229G>C (p.Gly77Arg)
c.505G>C (p.Gly169Arg)
1g.115738251C>TCA29603527CASQ2c.229G>A (p.Gly77Ser)
c.505G>A (p.Gly169Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.115738252A=CA1190729267CASQ2c.228T= (p.Ile76=)
c.504T= (p.Ile168=)
1g.115738252A>CCA341763844CASQ2c.228T>G (p.Ile76Met)
c.504T>G (p.Ile168Met)
1g.115738252A>GCA1023892CASQ2c.228T>C (p.Ile76=)
c.504T>C (p.Ile168=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738252A>TCA419895484CASQ2c.228T>A (p.Ile76=)
c.504T>A (p.Ile168=)

Number of alleles fetched