Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
1g.115738253A=CA1142216372CASQ2c.227T= (p.Ile76=)
c.503T= (p.Ile168=)
1g.115738253A>CCA341763845CASQ2c.227T>G (p.Ile76Ser)
c.503T>G (p.Ile168Ser)
1g.115738253A>GCA301894CASQ2c.227T>C (p.Ile76Thr)
c.503T>C (p.Ile168Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738253A>TCA341763846CASQ2c.227T>A (p.Ile76Asn)
c.503T>A (p.Ile168Asn)
1g.115738254T>ACA341763849CASQ2c.226A>T (p.Ile76Phe)
c.502A>T (p.Ile168Phe)
1g.115738254T>CCA341763847CASQ2c.226A>G (p.Ile76Val)
c.502A>G (p.Ile168Val)
 COSMIC
1g.115738254T>GCA341763848CASQ2c.226A>C (p.Ile76Leu)
c.502A>C (p.Ile168Leu)
 gnomAD v4
1g.115738255G>ACA419895485CASQ2c.225C>T (p.Leu75=)
c.501C>T (p.Leu167=)
1g.115738255G>CCA1023893CASQ2c.225C>G (p.Leu75=)
c.501C>G (p.Leu167=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738255G=CA1142092272CASQ2c.225C= (p.Leu75=)
c.501C= (p.Leu167=)
1g.115738255G>TCA419895486CASQ2c.225C>A (p.Leu75=)
c.501C>A (p.Leu167=)
1g.115738256A=CA1141581000CASQ2c.224T= (p.Leu75=)
c.500T= (p.Leu167=)
1g.115738256A>CCA341763850CASQ2c.224T>G (p.Leu75Arg)
c.500T>G (p.Leu167Arg)
1g.115738256A>GCA341763851CASQ2c.224T>C (p.Leu75Pro)
c.500T>C (p.Leu167Pro)
1g.115738256A>TCA258048CASQ2c.224T>A (p.Leu75His)
c.500T>A (p.Leu167His)
 ClinVar dbSNP gnomAD v4
1g.115738257G>ACA341763852CASQ2c.223C>T (p.Leu75Phe)
c.499C>T (p.Leu167Phe)
1g.115738257G>CCA341763853CASQ2c.223C>G (p.Leu75Val)
c.499C>G (p.Leu167Val)
1g.115738257G>TCA341763854CASQ2c.223C>A (p.Leu75Ile)
c.499C>A (p.Leu167Ile)
1g.115738258T>ACA341763855CASQ2c.222A>T (p.Lys74Asn)
c.498A>T (p.Lys166Asn)
 ClinVar dbSNP
1g.115738258T>CCA419895487CASQ2c.222A>G (p.Lys74=)
c.498A>G (p.Lys166=)
1g.115738258T>GCA341763856CASQ2c.222A>C (p.Lys74Asn)
c.498A>C (p.Lys166Asn)
1g.115738259T>ACA341763857CASQ2c.221A>T (p.Lys74Ile)
c.497A>T (p.Lys166Ile)
1g.115738259T>CCA341763858CASQ2c.221A>G (p.Lys74Arg)
c.497A>G (p.Lys166Arg)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.115738259T>GCA341763859CASQ2c.221A>C (p.Lys74Thr)
c.497A>C (p.Lys166Thr)
1g.115738259T=CA1190729268CASQ2c.221A= (p.Lys74=)
c.497A= (p.Lys166=)
1g.115738260T>ACA341763860CASQ2c.220A>T (p.Lys74Ter)
c.496A>T (p.Lys166Ter)
1g.115738260T>CCA341763861CASQ2c.220A>G (p.Lys74Glu)
c.496A>G (p.Lys166Glu)
 gnomAD v4
1g.115738260T>GCA1023894CASQ2c.220A>C (p.Lys74Gln)
c.496A>C (p.Lys166Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738260T=CA1190729269CASQ2c.220A= (p.Lys74=)
c.496A= (p.Lys166=)
1g.115738261G>ACA419895488CASQ2c.219C>T (p.Ile73=)
c.495C>T (p.Ile165=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.115738261G>CCA341763862CASQ2c.219C>G (p.Ile73Met)
c.495C>G (p.Ile165Met)
1g.115738261G=CA1190729270CASQ2c.219C= (p.Ile73=)
c.495C= (p.Ile165=)
1g.115738261G>TCA419895489CASQ2c.219C>A (p.Ile73=)
c.495C>A (p.Ile165=)
 dbSNP gnomAD v3 gnomAD v4
1g.115738262A>CCA341763863CASQ2c.218T>G (p.Ile73Ser)
c.494T>G (p.Ile165Ser)
1g.115738262A>GCA341763864CASQ2c.218T>C (p.Ile73Thr)
c.494T>C (p.Ile165Thr)
1g.115738262A>TCA341763865CASQ2c.218T>A (p.Ile73Asn)
c.494T>A (p.Ile165Asn)
1g.115738263T>ACA341763866CASQ2c.217A>T (p.Ile73Phe)
c.493A>T (p.Ile165Phe)
1g.115738263T>CCA341763867CASQ2c.217A>G (p.Ile73Val)
c.493A>G (p.Ile165Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.115738263T>GCA341763868CASQ2c.217A>C (p.Ile73Leu)
c.493A>C (p.Ile165Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.115738263T=CA1190729271CASQ2c.217A= (p.Ile73=)
c.493A= (p.Ile165=)
1g.115738264G>ACA10586707CASQ2c.216C>T (p.Tyr72=)
c.492C>T (p.Tyr164=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.115738264G>CCA341763869CASQ2c.216C>G (p.Tyr72Ter)
c.492C>G (p.Tyr164Ter)
1g.115738264G=CA1190729272CASQ2c.216C= (p.Tyr72=)
c.492C= (p.Tyr164=)
1g.115738264G>TCA341763870CASQ2c.216C>A (p.Tyr72Ter)
c.492C>A (p.Tyr164Ter)
1g.115738265T>ACA341763871CASQ2c.215A>T (p.Tyr72Phe)
c.491A>T (p.Tyr164Phe)
1g.115738265T>CCA1023895CASQ2c.215A>G (p.Tyr72Cys)
c.491A>G (p.Tyr164Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738265T>GCA341763872CASQ2c.215A>C (p.Tyr72Ser)
c.491A>C (p.Tyr164Ser)
1g.115738265T=CA1140803106CASQ2c.215A= (p.Tyr72=)
c.491A= (p.Tyr164=)
1g.115738266A=CA1190729273CASQ2c.214T= (p.Tyr72=)
c.490T= (p.Tyr164=)
1g.115738266A>CCA341763873CASQ2c.214T>G (p.Tyr72Asp)
c.490T>G (p.Tyr164Asp)
1g.115738266A>GCA341763875CASQ2c.214T>C (p.Tyr72His)
c.490T>C (p.Tyr164His)
 dbSNP gnomAD v2 gnomAD v4
1g.115738266A>TCA341763874CASQ2c.214T>A (p.Tyr72Asn)
c.490T>A (p.Tyr164Asn)
1g.115738267G>ACA419895490CASQ2c.213C>T (p.Asp71=)
c.489C>T (p.Asp163=)
1g.115738267G>CCA341763876CASQ2c.213C>G (p.Asp71Glu)
c.489C>G (p.Asp163Glu)
1g.115738267G>TCA341763877CASQ2c.213C>A (p.Asp71Glu)
c.489C>A (p.Asp163Glu)
1g.115738268T>ACA1023896CASQ2c.212A>T (p.Asp71Val)
c.488A>T (p.Asp163Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738268T>CCA341763878CASQ2c.212A>G (p.Asp71Gly)
c.488A>G (p.Asp163Gly)
1g.115738268T>GCA341763879CASQ2c.212A>C (p.Asp71Ala)
c.488A>C (p.Asp163Ala)
1g.115738268T=CA1190729274CASQ2c.212A= (p.Asp71=)
c.488A= (p.Asp163=)
1g.115738269C>ACA341763880CASQ2c.211G>T (p.Asp71Tyr)
c.487G>T (p.Asp163Tyr)
1g.115738269C>GCA341763881CASQ2c.211G>C (p.Asp71His)
c.487G>C (p.Asp163His)
 COSMIC
1g.115738269C>TCA341763882CASQ2c.211G>A (p.Asp71Asn)
c.487G>A (p.Asp163Asn)
 ClinVar
1g.115738270T>ACA341763883CASQ2c.210A>T (p.Glu70Asp)
c.486A>T (p.Glu162Asp)
1g.115738270T>CCA419895491CASQ2c.210A>G (p.Glu70=)
c.486A>G (p.Glu162=)
 dbSNP
1g.115738270T>GCA341763884CASQ2c.210A>C (p.Glu70Asp)
c.486A>C (p.Glu162Asp)
1g.115738271T>ACA341763887CASQ2c.209A>T (p.Glu70Val)
c.485A>T (p.Glu162Val)
1g.115738271T>CCA341763886CASQ2c.209A>G (p.Glu70Gly)
c.485A>G (p.Glu162Gly)
1g.115738271T>GCA341763885CASQ2c.209A>C (p.Glu70Ala)
c.485A>C (p.Glu162Ala)
1g.115738272C>ACA341763889CASQ2c.208G>T (p.Glu70Ter)
c.484G>T (p.Glu162Ter)
1g.115738272C>GCA341763888CASQ2c.208G>C (p.Glu70Gln)
c.484G>C (p.Glu162Gln)
1g.115738272C>TCA341763890CASQ2c.208G>A (p.Glu70Lys)
c.484G>A (p.Glu162Lys)
 gnomAD v4
1g.115738273A>CCA341763891CASQ2c.207T>G (p.Ile69Met)
c.483T>G (p.Ile161Met)
1g.115738273A>GCA419895492CASQ2c.207T>C (p.Ile69=)
c.483T>C (p.Ile161=)
1g.115738273A>TCA419895493CASQ2c.207T>A (p.Ile69=)
c.483T>A (p.Ile161=)
1g.115738274A=CA1142412014CASQ2c.206T= (p.Ile69=)
c.482T= (p.Ile161=)
1g.115738274A>CCA341763892CASQ2c.206T>G (p.Ile69Ser)
c.482T>G (p.Ile161Ser)
1g.115738274A>GCA1023897CASQ2c.206T>C (p.Ile69Thr)
c.482T>C (p.Ile161Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738274A>TCA341763893CASQ2c.206T>A (p.Ile69Asn)
c.482T>A (p.Ile161Asn)
1g.115738275T>ACA341763894CASQ2c.205A>T (p.Ile69Phe)
c.481A>T (p.Ile161Phe)
1g.115738275T>CCA133706CASQ2c.205A>G (p.Ile69Val)
c.481A>G (p.Ile161Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738275T>GCA301891CASQ2c.205A>C (p.Ile69Leu)
c.481A>C (p.Ile161Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738275T=CA1142109115CASQ2c.205A= (p.Ile69=)
c.481A= (p.Ile161=)
1g.115738276G>ACA419895494CASQ2c.204C>T (p.Arg68=)
c.480C>T (p.Arg160=)
1g.115738276G>CCA419895495CASQ2c.204C>G (p.Arg68=)
c.480C>G (p.Arg160=)
1g.115738276G>TCA419895496CASQ2c.204C>A (p.Arg68=)
c.480C>A (p.Arg160=)
1g.115738277C>ACA29603579CASQ2c.203G>T (p.Arg68Leu)
c.479G>T (p.Arg160Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.115738277C=CA1143852368CASQ2c.203G= (p.Arg68=)
c.479G= (p.Arg160=)
1g.115738277C>GCA341763895CASQ2c.203G>C (p.Arg68Pro)
c.479G>C (p.Arg160Pro)
1g.115738277C>TCA175368CASQ2c.203G>A (p.Arg68His)
c.479G>A (p.Arg160His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738277_115738289delinsCGTTCGAAGGCTTCA1190729275CASQ2c.191_203delinsAAGCCTTCGAACG (p.Gln64=)
c.467_479delinsAAGCCTTCGAACG (p.Gln156=)
1g.115738278G>ACA1023898CASQ2c.202C>T (p.Arg68Cys)
c.478C>T (p.Arg160Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115738278G>CCA341763896CASQ2c.202C>G (p.Arg68Gly)
c.478C>G (p.Arg160Gly)
1g.115738278G=CA1190729276CASQ2c.202C= (p.Arg68=)
c.478C= (p.Arg160=)
1g.115738278G>TCA341763897CASQ2c.202C>A (p.Arg68Ser)
c.478C>A (p.Arg160Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.115738279_115738290delCA1139656282CASQ2c.191_202del (p.Gln64_Glu67del)
c.467_478del (p.Gln156_Glu159del)
 ClinVar dbSNP
1g.115738279T>ACA341763899CASQ2c.201A>T (p.Glu67Asp)
c.477A>T (p.Glu159Asp)
1g.115738279T>CCA419895497CASQ2c.201A>G (p.Glu67=)
c.477A>G (p.Glu159=)
 gnomAD v4
1g.115738279T>GCA341763898CASQ2c.201A>C (p.Glu67Asp)
c.477A>C (p.Glu159Asp)
1g.115738280T>ACA341763900CASQ2c.200A>T (p.Glu67Val)
c.476A>T (p.Glu159Val)
1g.115738280T>CCA341763901CASQ2c.200A>G (p.Glu67Gly)
c.476A>G (p.Glu159Gly)
1g.115738280T>GCA341763902CASQ2c.200A>C (p.Glu67Ala)
c.476A>C (p.Glu159Ala)
 dbSNP gnomAD v4
1g.115738280T=CA1190729277CASQ2c.200A= (p.Glu67=)
c.476A= (p.Glu159=)
1g.115738281C>ACA1023900CASQ2c.199G>T (p.Glu67Ter)
c.475G>T (p.Glu159Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738281C=CA1144070748CASQ2c.199G= (p.Glu67=)
c.475G= (p.Glu159=)
1g.115738281C>GCA1023901CASQ2c.199G>C (p.Glu67Gln)
c.475G>C (p.Glu159Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738281C>TCA1023899CASQ2c.199G>A (p.Glu67Lys)
c.475G>A (p.Glu159Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.115738282G>ACA1023902CASQ2c.198C>T (p.Phe66=)
c.474C>T (p.Phe158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.115738282G>CCA341763903CASQ2c.198C>G (p.Phe66Leu)
c.474C>G (p.Phe158Leu)
1g.115738282G=CA1190729278CASQ2c.198C= (p.Phe66=)
c.474C= (p.Phe158=)
1g.115738282G>TCA341763904CASQ2c.198C>A (p.Phe66Leu)
c.474C>A (p.Phe158Leu)
1g.115738283A>CCA341763905CASQ2c.197T>G (p.Phe66Cys)
c.473T>G (p.Phe158Cys)
1g.115738283A>GCA341763906CASQ2c.197T>C (p.Phe66Ser)
c.473T>C (p.Phe158Ser)
1g.115738283A>TCA341763907CASQ2c.197T>A (p.Phe66Tyr)
c.473T>A (p.Phe158Tyr)
1g.115738284A>CCA341763910CASQ2c.196T>G (p.Phe66Val)
c.472T>G (p.Phe158Val)
1g.115738284A>GCA341763909CASQ2c.196T>C (p.Phe66Leu)
c.472T>C (p.Phe158Leu)
1g.115738284A>TCA341763908CASQ2c.196T>A (p.Phe66Ile)
c.472T>A (p.Phe158Ile)
1g.115738285G>ACA419895498CASQ2c.195C>T (p.Ala65=)
c.471C>T (p.Ala157=)
 dbSNP
1g.115738285G>CCA419895499CASQ2c.195C>G (p.Ala65=)
c.471C>G (p.Ala157=)
1g.115738285G>TCA419895500CASQ2c.195C>A (p.Ala65=)
c.471C>A (p.Ala157=)
1g.115738286G>ACA341763911CASQ2c.194C>T (p.Ala65Val)
c.470C>T (p.Ala157Val)
1g.115738286G>CCA341763912CASQ2c.194C>G (p.Ala65Gly)
c.470C>G (p.Ala157Gly)
1g.115738286G=CA1190729279CASQ2c.194C= (p.Ala65=)
c.470C= (p.Ala157=)
1g.115738286G>TCA341763913CASQ2c.194C>A (p.Ala65Asp)
c.470C>A (p.Ala157Asp)
 dbSNP gnomAD v4
1g.115738287C>ACA341763914CASQ2c.193G>T (p.Ala65Ser)
c.469G>T (p.Ala157Ser)
1g.115738287C=CA1190729280CASQ2c.193G= (p.Ala65=)
c.469G= (p.Ala157=)
1g.115738287C>GCA1023903CASQ2c.193G>C (p.Ala65Pro)
c.469G>C (p.Ala157Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738287C>TCA29603610CASQ2c.193G>A (p.Ala65Thr)
c.469G>A (p.Ala157Thr)
 dbSNP gnomAD v4
1g.115738288T>ACA341763916CASQ2c.192A>T (p.Gln64His)
c.468A>T (p.Gln156His)
1g.115738288T>CCA419895501CASQ2c.192A>G (p.Gln64=)
c.468A>G (p.Gln156=)
 gnomAD v4
1g.115738288T>GCA341763915CASQ2c.192A>C (p.Gln64His)
c.468A>C (p.Gln156His)
1g.115738289T>ACA341763917CASQ2c.191A>T (p.Gln64Leu)
c.467A>T (p.Gln156Leu)
1g.115738289T>CCA341763918CASQ2c.191A>G (p.Gln64Arg)
c.467A>G (p.Gln156Arg)
1g.115738289T>GCA341763919CASQ2c.191A>C (p.Gln64Pro)
c.467A>C (p.Gln156Pro)
1g.115738290G>ACA341763920CASQ2c.190C>T (p.Gln64Ter)
c.466C>T (p.Gln156Ter)
 ClinVar dbSNP gnomAD v4
1g.115738290G>CCA341763921CASQ2c.190C>G (p.Gln64Glu)
c.466C>G (p.Gln156Glu)
1g.115738290G=CA1190729281CASQ2c.190C= (p.Gln64=)
c.466C= (p.Gln156=)
1g.115738290G>TCA341763922CASQ2c.190C>A (p.Gln64Lys)
c.466C>A (p.Gln156Lys)
1g.115738291G>ACA419895502CASQ2c.189C>T (p.Val63=)
c.465C>T (p.Val155=)
1g.115738291G>CCA419895503CASQ2c.189C>G (p.Val63=)
c.465C>G (p.Val155=)
1g.115738291G>TCA419895504CASQ2c.189C>A (p.Val63=)
c.465C>A (p.Val155=)
1g.115738292A=CA1148722843CASQ2c.188T= (p.Val63=)
c.464T= (p.Val155=)
1g.115738292A>CCA341763923CASQ2c.188T>G (p.Val63Gly)
c.464T>G (p.Val155Gly)
 gnomAD v4
1g.115738292A>GCA1023904CASQ2c.188T>C (p.Val63Ala)
c.464T>C (p.Val155Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115738292A>TCA341763924CASQ2c.188T>A (p.Val63Asp)
c.464T>A (p.Val155Asp)
1g.115738293C>ACA341763925CASQ2c.187G>T (p.Val63Phe)
c.463G>T (p.Val155Phe)
1g.115738293C>GCA341763926CASQ2c.187G>C (p.Val63Leu)
c.463G>C (p.Val155Leu)
1g.115738293C>TCA341763927CASQ2c.187G>A (p.Val63Ile)
c.463G>A (p.Val155Ile)
1g.115738294T>ACA341763928CASQ2c.186A>T (p.Glu62Asp)
c.462A>T (p.Glu154Asp)
1g.115738294T>CCA419895505CASQ2c.186A>G (p.Glu62=)
c.462A>G (p.Glu154=)
1g.115738294T>GCA341763929CASQ2c.186A>C (p.Glu62Asp)
c.462A>C (p.Glu154Asp)
 dbSNP
1g.115738294T=CA1190729282CASQ2c.186A= (p.Glu62=)
c.462A= (p.Glu154=)
1g.115738295T>ACA341763930CASQ2c.185A>T (p.Glu62Val)
c.461A>T (p.Glu154Val)
 dbSNP gnomAD v2 gnomAD v4
1g.115738295T>CCA341763931CASQ2c.185A>G (p.Glu62Gly)
c.461A>G (p.Glu154Gly)
1g.115738295T>GCA341763932CASQ2c.185A>C (p.Glu62Ala)
c.461A>C (p.Glu154Ala)
1g.115738295T=CA1190729283CASQ2c.185A= (p.Glu62=)
c.461A= (p.Glu154=)
1g.115738296C>ACA341763933CASQ2c.184G>T (p.Glu62Ter)
c.460G>T (p.Glu154Ter)
1g.115738296C>GCA341763934CASQ2c.184G>C (p.Glu62Gln)
c.460G>C (p.Glu154Gln)
1g.115738296C>TCA341763935CASQ2c.184G>A (p.Glu62Lys)
c.460G>A (p.Glu154Lys)
1g.115738297C>ACA419895507CASQ2c.183G>T (p.Leu61=)
c.459G>T (p.Leu153=)
1g.115738297C=CA1190729284CASQ2c.183G= (p.Leu61=)
c.459G= (p.Leu153=)
1g.115738297C>GCA419895508CASQ2c.183G>C (p.Leu61=)
c.459G>C (p.Leu153=)
1g.115738297C>TCA419895506CASQ2c.183G>A (p.Leu61=)
c.459G>A (p.Leu153=)
 dbSNP
1g.115738298A=CA1190729285CASQ2c.182T= (p.Leu61=)
c.458T= (p.Leu153=)
1g.115738298A>CCA341763937CASQ2c.182T>G (p.Leu61Arg)
c.458T>G (p.Leu153Arg)
1g.115738298A>GCA341763938CASQ2c.182T>C (p.Leu61Pro)
c.458T>C (p.Leu153Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.115738298A>TCA341763936CASQ2c.182T>A (p.Leu61Gln)
c.458T>A (p.Leu153Gln)

Number of alleles fetched