Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.115732879T>CCA1023852CASQ2c.330+22A>G (n.330+22A>G)
c.606+22A>G (n.606+22A>G)
n.27+22A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115732879T=CA1141972116CASQ2c.330+22A= (n.330+22A=)
c.606+22A= (n.606+22A=)
n.27+22A=
1g.115732880T>ACA1006059191CASQ2c.330+21A>T (n.330+21A>T)
c.606+21A>T (n.606+21A>T)
n.27+21A>T
 dbSNP gnomAD v3 gnomAD v4
1g.115732880T>CCA1023853CASQ2c.330+21A>G (n.330+21A>G)
c.606+21A>G (n.606+21A>G)
n.27+21A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115732880T=CA1145530568CASQ2c.330+21A= (n.330+21A=)
c.606+21A= (n.606+21A=)
n.27+21A=
1g.115732881G>ACA2537691885CASQ2c.330+20C>T (n.330+20C>T)
c.606+20C>T (n.606+20C>T)
n.27+20C>T
1g.115732881G>CCA2647283127CASQ2c.330+20C>G (n.330+20C>G)
c.606+20C>G (n.606+20C>G)
n.27+20C>G
 gnomAD v4
1g.115732881G>TCA2647283128CASQ2c.330+20C>A (n.330+20C>A)
c.606+20C>A (n.606+20C>A)
n.27+20C>A
 gnomAD v4
1g.115732884delCA2574037300CASQ2c.330+20del (n.330+20del)
c.606+20del (n.606+20del)
n.27+20del
 gnomAD v4
1g.115732882G>TCA2647283129CASQ2c.330+19C>A (n.330+19C>A)
c.606+19C>A (n.606+19C>A)
n.27+19C>A
 gnomAD v4
1g.115732883G>ACA1190726904CASQ2c.330+18C>T (n.330+18C>T)
c.606+18C>T (n.606+18C>T)
n.27+18C>T
 ClinVar dbSNP gnomAD v4
1g.115732883G=CA1190726903CASQ2c.330+18C= (n.330+18C=)
c.606+18C= (n.606+18C=)
n.27+18C=
1g.115732883G>TCA2647283130CASQ2c.330+18C>A (n.330+18C>A)
c.606+18C>A (n.606+18C>A)
n.27+18C>A
 gnomAD v4
1g.115732884G>TCA2647283131CASQ2c.330+17C>A (n.330+17C>A)
c.606+17C>A (n.606+17C>A)
n.27+17C>A
 gnomAD v4
1g.115732885T>CCA2697554476CASQ2c.330+16A>G (n.330+16A>G)
c.606+16A>G (n.606+16A>G)
n.27+16A>G
 ClinVar
1g.115732889A=CA1190726905CASQ2c.330+12T= (n.330+12T=)
c.606+12T= (n.606+12T=)
n.27+12T=
1g.115732889A>GCA1023854CASQ2c.330+12T>C (n.330+12T>C)
c.606+12T>C (n.606+12T>C)
n.27+12T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115732891A=CA1190726906CASQ2c.330+10T= (n.330+10T=)
c.606+10T= (n.606+10T=)
n.27+10T=
1g.115732891A>GCA1023855CASQ2c.330+10T>C (n.330+10T>C)
c.606+10T>C (n.606+10T>C)
n.27+10T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115732891_115732894delinsAGGTCA1190726907CASQ2c.330+7_330+10delinsACCT (n.330+7_330+10delinsACCT)
c.606+7_606+10delinsACCT (n.606+7_606+10delinsACCT)
n.27+7_27+10delinsACCT
1g.115732892G>ACA1023857CASQ2c.330+9C>T (n.330+9C>T)
c.606+9C>T (n.606+9C>T)
n.27+9C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115732892G=CA1190726908CASQ2c.330+9C= (n.330+9C=)
c.606+9C= (n.606+9C=)
n.27+9C=
1g.115732892_115732894delCA1023856CASQ2c.330+7_330+9del (n.330+7_330+9del)
c.606+7_606+9del (n.606+7_606+9del)
n.27+7_27+9del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115732893G>ACA1190726910CASQ2c.330+8C>T (n.330+8C>T)
c.606+8C>T (n.606+8C>T)
n.27+8C>T
 dbSNP
1g.115732893G=CA1190726909CASQ2c.330+8C= (n.330+8C=)
c.606+8C= (n.606+8C=)
n.27+8C=
1g.115732893G>TCA2647283132CASQ2c.330+8C>A (n.330+8C>A)
c.606+8C>A (n.606+8C>A)
n.27+8C>A
 gnomAD v4
1g.115732894T>ACA16609861CASQ2c.330+7A>T (n.330+7A>T)
c.606+7A>T (n.606+7A>T)
n.27+7A>T
 ClinVar dbSNP
1g.115732894T>CCA2745158910CASQ2c.330+7A>G (n.330+7A>G)
c.606+7A>G (n.606+7A>G)
n.27+7A>G
1g.115732894T=CA1190726911CASQ2c.330+7A= (n.330+7A=)
c.606+7A= (n.606+7A=)
n.27+7A=
1g.115732897T>CCA419896031CASQ2c.330+4A>G (n.330+4A>G)
c.606+4A>G (n.606+4A>G)
n.27+4A>G
1g.115732898dupCA2647283133CASQ2c.330+4dup (n.330+4dup)
c.606+4dup (n.606+4dup)
n.27+4dup
 gnomAD v4
1g.115732898T>CCA2647283134CASQ2c.330+3A>G (n.330+3A>G)
c.606+3A>G (n.606+3A>G)
n.27+3A>G
 gnomAD v4
1g.115732899A>CCA341768919CASQ2c.330+2T>G (n.330+2T>G)
c.606+2T>G (n.606+2T>G)
n.27+2T>G
1g.115732899A>GCA341768920CASQ2c.330+2T>C (n.330+2T>C)
c.606+2T>C (n.606+2T>C)
n.27+2T>C
1g.115732899A>TCA341768921CASQ2c.330+2T>A (n.330+2T>A)
c.606+2T>A (n.606+2T>A)
n.27+2T>A
1g.115732900C>ACA341768922CASQ2c.330+1G>T (n.330+1G>T)
c.606+1G>T (n.606+1G>T)
n.27+1G>T
 dbSNP gnomAD v3 gnomAD v4
1g.115732900C=CA1190726912CASQ2c.330+1G= (n.330+1G=)
c.606+1G= (n.606+1G=)
n.27+1G=
1g.115732900C>GCA301900CASQ2c.330+1G>C (n.330+1G>C)
c.606+1G>C (n.606+1G>C)
n.27+1G>C
 ClinVar dbSNP
1g.115732900C>TCA341768923CASQ2c.330+1G>A (n.330+1G>A)
c.606+1G>A (n.606+1G>A)
n.27+1G>A
1g.115732901C>ACA419896034CASQ2c.330G>T (p.Gly110=)
c.606G>T (p.Gly202=)
n.27G>T
1g.115732901C=CA1190726913CASQ2c.330G= (p.Gly110=)
c.606G= (p.Gly202=)
n.27G=
1g.115732901C>GCA419896033CASQ2c.330G>C (p.Gly110=)
c.606G>C (p.Gly202=)
n.27G>C
1g.115732901C>TCA419896032CASQ2c.330G>A (p.Gly110=)
c.606G>A (p.Gly202=)
n.27G>A
 ClinVar dbSNP
1g.115732902C>ACA341768924CASQ2c.329G>T (p.Gly110Val)
c.605G>T (p.Gly202Val)
n.26G>T
1g.115732902C=CA1190726914CASQ2c.329G= (p.Gly110=)
c.605G= (p.Gly202=)
n.26G=
1g.115732902C>GCA1023858CASQ2c.329G>C (p.Gly110Ala)
c.605G>C (p.Gly202Ala)
n.26G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115732902C>TCA341768925CASQ2c.329G>A (p.Gly110Glu)
c.605G>A (p.Gly202Glu)
n.26G>A
 gnomAD v4
1g.115732903C>ACA341768926CASQ2c.328G>T (p.Gly110Trp)
c.604G>T (p.Gly202Trp)
n.25G>T
 dbSNP
1g.115732903C=CA1190726915CASQ2c.328G= (p.Gly110=)
c.604G= (p.Gly202=)
n.25G=
1g.115732903C>GCA341768928CASQ2c.328G>C (p.Gly110Arg)
c.604G>C (p.Gly202Arg)
n.25G>C
 gnomAD v4
1g.115732903C>TCA341768927CASQ2c.328G>A (p.Gly110Arg)
c.604G>A (p.Gly202Arg)
n.25G>A
 dbSNP gnomAD v4
1g.115732904T>ACA341768929CASQ2c.327A>T (p.Lys109Asn)
c.603A>T (p.Lys201Asn)
n.24A>T
1g.115732904T>CCA419896035CASQ2c.327A>G (p.Lys109=)
c.603A>G (p.Lys201=)
n.24A>G
 ClinVar dbSNP gnomAD v4
1g.115732904T>GCA341768930CASQ2c.327A>C (p.Lys109Asn)
c.603A>C (p.Lys201Asn)
n.24A>C
1g.115732904T=CA1190726916CASQ2c.327A= (p.Lys109=)
c.603A= (p.Lys201=)
n.24A=
1g.115732906delCA1139770956CASQ2c.327del (p.Val111CysfsTer7)
c.603del (p.Val203LeufsTer7)
n.24del
 gnomAD v4
1g.115732905T>ACA341768931CASQ2c.326A>T (p.Lys109Ile)
c.602A>T (p.Lys201Ile)
n.23A>T
1g.115732905T>CCA341768932CASQ2c.326A>G (p.Lys109Arg)
c.602A>G (p.Lys201Arg)
n.23A>G
1g.115732905T>GCA341768933CASQ2c.326A>C (p.Lys109Thr)
c.602A>C (p.Lys201Thr)
n.23A>C
1g.115732906T>ACA341768934CASQ2c.325A>T (p.Lys109Ter)
c.601A>T (p.Lys201Ter)
n.22A>T
1g.115732906T>CCA341768935CASQ2c.325A>G (p.Lys109Glu)
c.601A>G (p.Lys201Glu)
n.22A>G
1g.115732906T>GCA341768936CASQ2c.325A>C (p.Lys109Gln)
c.601A>C (p.Lys201Gln)
n.22A>C
1g.115732907G>ACA419896036CASQ2c.324C>T (p.Asp108=)
c.600C>T (p.Asp200=)
n.21C>T
1g.115732907G>CCA341768937CASQ2c.324C>G (p.Asp108Glu)
c.600C>G (p.Asp200Glu)
n.21C>G
 ClinVar
1g.115732907G>TCA341768938CASQ2c.324C>A (p.Asp108Glu)
c.600C>A (p.Asp200Glu)
n.21C>A
 gnomAD v4
1g.115732908T>ACA341768941CASQ2c.323A>T (p.Asp108Val)
c.599A>T (p.Asp200Val)
n.20A>T
 gnomAD v4
1g.115732908T>CCA341768942CASQ2c.323A>G (p.Asp108Gly)
c.599A>G (p.Asp200Gly)
n.20A>G
 dbSNP
1g.115732908T>GCA341768940CASQ2c.323A>C (p.Asp108Ala)
c.599A>C (p.Asp200Ala)
n.20A>C
1g.115732908T=CA1190726917CASQ2c.323A= (p.Asp108=)
c.599A= (p.Asp200=)
n.20A=
1g.115732909C>ACA341768943CASQ2c.322G>T (p.Asp108Tyr)
c.598G>T (p.Asp200Tyr)
n.19G>T
1g.115732909C>GCA341768944CASQ2c.322G>C (p.Asp108His)
c.598G>C (p.Asp200His)
n.19G>C
1g.115732909C>TCA341768945CASQ2c.322G>A (p.Asp108Asn)
c.598G>A (p.Asp200Asn)
n.19G>A
1g.115732910A>CCA341768946CASQ2c.321T>G (p.Phe107Leu)
c.597T>G (p.Phe199Leu)
n.18T>G
1g.115732910A>GCA419896037CASQ2c.321T>C (p.Phe107=)
c.597T>C (p.Phe199=)
n.18T>C
1g.115732910A>TCA341768947CASQ2c.321T>A (p.Phe107Leu)
c.597T>A (p.Phe199Leu)
n.18T>A
1g.115732911A>CCA341768948CASQ2c.320T>G (p.Phe107Cys)
c.596T>G (p.Phe199Cys)
n.17T>G
1g.115732911A>GCA341768949CASQ2c.320T>C (p.Phe107Ser)
c.596T>C (p.Phe199Ser)
n.17T>C
 gnomAD v4
1g.115732911A>TCA341768950CASQ2c.320T>A (p.Phe107Tyr)
c.596T>A (p.Phe199Tyr)
n.17T>A
1g.115732912A>CCA341768951CASQ2c.319T>G (p.Phe107Val)
c.595T>G (p.Phe199Val)
n.16T>G
 gnomAD v4
1g.115732912A>GCA341768952CASQ2c.319T>C (p.Phe107Leu)
c.595T>C (p.Phe199Leu)
n.16T>C
1g.115732912A>TCA341768953CASQ2c.319T>A (p.Phe107Ile)
c.595T>A (p.Phe199Ile)
n.16T>A
1g.115732913G>ACA419896038CASQ2c.318C>T (p.Thr106=)
c.594C>T (p.Thr198=)
n.15C>T
1g.115732913G>CCA1023859CASQ2c.318C>G (p.Thr106=)
c.594C>G (p.Thr198=)
n.15C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115732913G=CA1190726918CASQ2c.318C= (p.Thr106=)
c.594C= (p.Thr198=)
n.15C=
1g.115732913G>TCA419896039CASQ2c.318C>A (p.Thr106=)
c.594C>A (p.Thr198=)
n.15C>A
1g.115732914G>ACA341768955CASQ2c.317C>T (p.Thr106Ile)
c.593C>T (p.Thr198Ile)
n.14C>T
 gnomAD v4
1g.115732914G>CCA341768956CASQ2c.317C>G (p.Thr106Ser)
c.593C>G (p.Thr198Ser)
n.14C>G
1g.115732914G>TCA341768954CASQ2c.317C>A (p.Thr106Asn)
c.593C>A (p.Thr198Asn)
n.14C>A
1g.115732915T>ACA341768957CASQ2c.316A>T (p.Thr106Ser)
c.592A>T (p.Thr198Ser)
n.13A>T
1g.115732915T>CCA341768958CASQ2c.316A>G (p.Thr106Ala)
c.592A>G (p.Thr198Ala)
n.13A>G
1g.115732915T>GCA341768959CASQ2c.316A>C (p.Thr106Pro)
c.592A>C (p.Thr198Pro)
n.13A>C
1g.115732916G>ACA419896041CASQ2c.315C>T (p.Ala105=)
c.591C>T (p.Ala197=)
n.12C>T
1g.115732916G>CCA419896042CASQ2c.315C>G (p.Ala105=)
c.591C>G (p.Ala197=)
n.12C>G
1g.115732916G>TCA419896040CASQ2c.315C>A (p.Ala105=)
c.591C>A (p.Ala197=)
n.12C>A
1g.115732917G>ACA341768960CASQ2c.314C>T (p.Ala105Val)
c.590C>T (p.Ala197Val)
n.11C>T
 gnomAD v4
1g.115732917G>CCA341768961CASQ2c.314C>G (p.Ala105Gly)
c.590C>G (p.Ala197Gly)
n.11C>G
1g.115732917G>TCA341768962CASQ2c.314C>A (p.Ala105Asp)
c.590C>A (p.Ala197Asp)
n.11C>A
 COSMIC
1g.115732918C>ACA1023860CASQ2c.313G>T (p.Ala105Ser)
c.589G>T (p.Ala197Ser)
n.10G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.115732918C=CA1149152417CASQ2c.313G= (p.Ala105=)
c.589G= (p.Ala197=)
n.10G=
1g.115732918C>GCA341768963CASQ2c.313G>C (p.Ala105Pro)
c.589G>C (p.Ala197Pro)
n.10G>C
1g.115732918C>TCA341768964CASQ2c.313G>A (p.Ala105Thr)
c.589G>A (p.Ala197Thr)
n.10G>A
 gnomAD v4
1g.115732919A=CA1190726919CASQ2c.312T= (p.Phe104=)
c.588T= (p.Phe196=)
n.9T=
1g.115732919A>CCA341768965CASQ2c.312T>G (p.Phe104Leu)
c.588T>G (p.Phe196Leu)
n.9T>G
1g.115732919A>GCA29640280CASQ2c.312T>C (p.Phe104=)
c.588T>C (p.Phe196=)
n.9T>C
 dbSNP gnomAD v2 gnomAD v4
1g.115732919A>TCA341768966CASQ2c.312T>A (p.Phe104Leu)
c.588T>A (p.Phe196Leu)
n.9T>A
1g.115732920A>CCA341768967CASQ2c.311T>G (p.Phe104Cys)
c.587T>G (p.Phe196Cys)
n.8T>G
1g.115732920A>GCA341768968CASQ2c.311T>C (p.Phe104Ser)
c.587T>C (p.Phe196Ser)
n.8T>C
1g.115732920A>TCA341768969CASQ2c.311T>A (p.Phe104Tyr)
c.587T>A (p.Phe196Tyr)
n.8T>A
1g.115732921A>CCA341768970CASQ2c.310T>G (p.Phe104Val)
c.586T>G (p.Phe196Val)
n.7T>G
1g.115732921A>GCA341768972CASQ2c.310T>C (p.Phe104Leu)
c.586T>C (p.Phe196Leu)
n.7T>C
1g.115732921A>TCA341768971CASQ2c.310T>A (p.Phe104Ile)
c.586T>A (p.Phe196Ile)
n.7T>A
1g.115732922G>ACA419896043CASQ2c.309C>T (p.Phe103=)
c.585C>T (p.Phe195=)
n.6C>T
1g.115732922G>CCA341768973CASQ2c.309C>G (p.Phe103Leu)
c.585C>G (p.Phe195Leu)
n.6C>G
1g.115732922G>TCA341768974CASQ2c.309C>A (p.Phe103Leu)
c.585C>A (p.Phe195Leu)
n.6C>A
 gnomAD v4 COSMIC
1g.115732923A>CCA341768975CASQ2c.308T>G (p.Phe103Cys)
c.584T>G (p.Phe195Cys)
n.5T>G
1g.115732923A>GCA341768977CASQ2c.308T>C (p.Phe103Ser)
c.584T>C (p.Phe195Ser)
n.5T>C
1g.115732923A>TCA341768976CASQ2c.308T>A (p.Phe103Tyr)
c.584T>A (p.Phe195Tyr)
n.5T>A
1g.115732924A>CCA341768978CASQ2c.307T>G (p.Phe103Val)
c.583T>G (p.Phe195Val)
n.4T>G
1g.115732924A>GCA341768979CASQ2c.307T>C (p.Phe103Leu)
c.583T>C (p.Phe195Leu)
n.4T>C
1g.115732924A>TCA341768980CASQ2c.307T>A (p.Phe103Ile)
c.583T>A (p.Phe195Ile)
n.4T>A
1g.115732925T>ACA341768981CASQ2c.306A>T (p.Lys102Asn)
c.582A>T (p.Lys194Asn)
n.3A>T
1g.115732925T>CCA419896044CASQ2c.306A>G (p.Lys102=)
c.582A>G (p.Lys194=)
n.3A>G
1g.115732925T>GCA341768982CASQ2c.306A>C (p.Lys102Asn)
c.582A>C (p.Lys194Asn)
n.3A>C
1g.115732927delCA1682913324CASQ2c.306del (p.Lys102AsnfsTer16)
c.582del (p.Lys194AsnfsTer16)
n.3del
1g.115732926T>ACA341768983CASQ2c.305A>T (p.Lys102Ile)
c.581A>T (p.Lys194Ile)
n.2A>T
1g.115732926T>CCA341768984CASQ2c.305A>G (p.Lys102Arg)
c.581A>G (p.Lys194Arg)
n.2A>G
1g.115732926T>GCA1023861CASQ2c.305A>C (p.Lys102Thr)
c.581A>C (p.Lys194Thr)
n.2A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.115732926T=CA1190726921CASQ2c.305A= (p.Lys102=)
c.581A= (p.Lys194=)
n.2A=
1g.115732926_115732929delinsTTGACA1190726920CASQ2c.302_305delinsTCAA (p.Ile101=)
c.578_581delinsTCAA (p.Ile193=)
1g.115732927T>ACA341768985CASQ2c.304A>T (p.Lys102Ter)
c.580A>T (p.Lys194Ter)
n.1A>T
1g.115732927T>CCA341768987CASQ2c.304A>G (p.Lys102Glu)
c.580A>G (p.Lys194Glu)
n.1A>G
1g.115732927T>GCA341768986CASQ2c.304A>C (p.Lys102Gln)
c.580A>C (p.Lys194Gln)
n.1A>C
 dbSNP
1g.115732927_115732929delinsGTCA261480CASQ2c.302_304delinsAC (p.Ile101AsnfsTer17)
c.578_580delinsAC (p.Ile193AsnfsTer17)
 ClinVar dbSNP
1g.115732927_115732929delinsTGACA1144228955CASQ2c.302_304delinsTCA (p.Ile101=)
c.578_580delinsTCA (p.Ile193=)
1g.115732928G>ACA419896046CASQ2c.303C>T (p.Ile101=)
c.579C>T (p.Ile193=)
1g.115732928G>CCA1023862CASQ2c.303C>G (p.Ile101Met)
c.579C>G (p.Ile193Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.115732928G=CA1190726922CASQ2c.303C= (p.Ile101=)
c.579C= (p.Ile193=)
1g.115732928G>TCA419896045CASQ2c.303C>A (p.Ile101=)
c.579C>A (p.Ile193=)
 gnomAD v4
1g.115732929A=CA1190726923CASQ2c.302T= (p.Ile101=)
c.578T= (p.Ile193=)
1g.115732929A>CCA341768988CASQ2c.302T>G (p.Ile101Ser)
c.578T>G (p.Ile193Ser)
1g.115732929A>GCA341768989CASQ2c.302T>C (p.Ile101Thr)
c.578T>C (p.Ile193Thr)
1g.115732929A>TCA1023863CASQ2c.302T>A (p.Ile101Asn)
c.578T>A (p.Ile193Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115732930T>ACA341768990CASQ2c.301A>T (p.Ile101Phe)
c.577A>T (p.Ile193Phe)
1g.115732930T>CCA341768992CASQ2c.301A>G (p.Ile101Val)
c.577A>G (p.Ile193Val)
1g.115732930T>GCA341768991CASQ2c.301A>C (p.Ile101Leu)
c.577A>C (p.Ile193Leu)
1g.115732931G>ACA1023864CASQ2c.300C>T (p.Tyr100=)
c.576C>T (p.Tyr192=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115732931G>CCA341768993CASQ2c.300C>G (p.Tyr100Ter)
c.576C>G (p.Tyr192Ter)
1g.115732931G=CA1190726924CASQ2c.300C= (p.Tyr100=)
c.576C= (p.Tyr192=)
1g.115732931G>TCA341768994CASQ2c.300C>A (p.Tyr100Ter)
c.576C>A (p.Tyr192Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.115732932T>ACA341768995CASQ2c.299A>T (p.Tyr100Phe)
c.575A>T (p.Tyr192Phe)
1g.115732932T>CCA341768996CASQ2c.299A>G (p.Tyr100Cys)
c.575A>G (p.Tyr192Cys)
1g.115732932T>GCA341768997CASQ2c.299A>C (p.Tyr100Ser)
c.575A>C (p.Tyr192Ser)
1g.115732933A>CCA341768998CASQ2c.298T>G (p.Tyr100Asp)
c.574T>G (p.Tyr192Asp)
 gnomAD v4
1g.115732933A>GCA341768999CASQ2c.298T>C (p.Tyr100His)
c.574T>C (p.Tyr192His)
1g.115732933A>TCA341769000CASQ2c.298T>A (p.Tyr100Asn)
c.574T>A (p.Tyr192Asn)
1g.115732934A>CCA419896047CASQ2c.297T>G (p.Pro99=)
c.573T>G (p.Pro191=)
1g.115732934A>GCA419896048CASQ2c.297T>C (p.Pro99=)
c.573T>C (p.Pro191=)
1g.115732934A>TCA419896049CASQ2c.297T>A (p.Pro99=)
c.573T>A (p.Pro191=)
1g.115732935G>ACA341769001CASQ2c.296C>T (p.Pro99Leu)
c.572C>T (p.Pro191Leu)
 gnomAD v4 COSMIC
1g.115732935G>CCA341769002CASQ2c.296C>G (p.Pro99Arg)
c.572C>G (p.Pro191Arg)
1g.115732935G>TCA341769003CASQ2c.296C>A (p.Pro99His)
c.572C>A (p.Pro191His)
 COSMIC
1g.115732936G>ACA341769006CASQ2c.295C>T (p.Pro99Ser)
c.571C>T (p.Pro191Ser)
1g.115732936G>CCA341769004CASQ2c.295C>G (p.Pro99Ala)
c.571C>G (p.Pro191Ala)
1g.115732936G>TCA341769005CASQ2c.295C>A (p.Pro99Thr)
c.571C>A (p.Pro191Thr)
1g.115732937C>ACA341769007CASQ2c.294G>T (p.Gln98His)
c.570G>T (p.Gln190His)
1g.115732937C>GCA341769008CASQ2c.294G>C (p.Gln98His)
c.570G>C (p.Gln190His)
1g.115732937C>TCA419896050CASQ2c.294G>A (p.Gln98=)
c.570G>A (p.Gln190=)
 gnomAD v4
1g.115732938T>ACA341769009CASQ2c.293A>T (p.Gln98Leu)
c.569A>T (p.Gln190Leu)
1g.115732938T>CCA341769010CASQ2c.293A>G (p.Gln98Arg)
c.569A>G (p.Gln190Arg)
 dbSNP
1g.115732938T>GCA341769011CASQ2c.293A>C (p.Gln98Pro)
c.569A>C (p.Gln190Pro)
1g.115732938T=CA1190726925CASQ2c.293A= (p.Gln98=)
c.569A= (p.Gln190=)
1g.115732939G>ACA341769012CASQ2c.292C>T (p.Gln98Ter)
c.568C>T (p.Gln190Ter)
1g.115732939G>CCA341769013CASQ2c.292C>G (p.Gln98Glu)
c.568C>G (p.Gln190Glu)
1g.115732939G>TCA341769014CASQ2c.292C>A (p.Gln98Lys)
c.568C>A (p.Gln190Lys)
1g.115732940G>ACA419896051CASQ2c.291C>T (p.Phe97=)
c.567C>T (p.Phe189=)
 gnomAD v4 COSMIC
1g.115732940G>CCA175364CASQ2c.291C>G (p.Phe97Leu)
c.567C>G (p.Phe189Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.115732940G=CA1142129946CASQ2c.291C= (p.Phe97=)
c.567C= (p.Phe189=)
1g.115732940G>TCA341769015CASQ2c.291C>A (p.Phe97Leu)
c.567C>A (p.Phe189Leu)
1g.115732941A=CA1190726926CASQ2c.290T= (p.Phe97=)
c.566T= (p.Phe189=)
1g.115732941A>CCA341769016CASQ2c.290T>G (p.Phe97Cys)
c.566T>G (p.Phe189Cys)
1g.115732941A>GCA341769017CASQ2c.290T>C (p.Phe97Ser)
c.566T>C (p.Phe189Ser)
 dbSNP
1g.115732941A>TCA341769018CASQ2c.290T>A (p.Phe97Tyr)
c.566T>A (p.Phe189Tyr)
 gnomAD v4
1g.115732942A>CCA341769021CASQ2c.289T>G (p.Phe97Val)
c.565T>G (p.Phe189Val)
1g.115732942A>GCA341769020CASQ2c.289T>C (p.Phe97Leu)
c.565T>C (p.Phe189Leu)
1g.115732942A>TCA341769019CASQ2c.289T>A (p.Phe97Ile)
c.565T>A (p.Phe189Ile)
 gnomAD v4
1g.115732943G>ACA419896052CASQ2c.288C>T (p.His96=)
c.564C>T (p.His188=)
 ClinVar
1g.115732943G>CCA341769022CASQ2c.288C>G (p.His96Gln)
c.564C>G (p.His188Gln)
1g.115732943G>TCA341769023CASQ2c.288C>A (p.His96Gln)
c.564C>A (p.His188Gln)
1g.115732944T>ACA341769024CASQ2c.287A>T (p.His96Leu)
c.563A>T (p.His188Leu)
1g.115732944T>CCA1023865CASQ2c.287A>G (p.His96Arg)
c.563A>G (p.His188Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115732944T>GCA341769025CASQ2c.287A>C (p.His96Pro)
c.563A>C (p.His188Pro)
1g.115732944T=CA1148450026CASQ2c.287A= (p.His96=)
c.563A= (p.His188=)
1g.115732945G>ACA341769026CASQ2c.286C>T (p.His96Tyr)
c.562C>T (p.His188Tyr)
 ClinVar gnomAD v4
1g.115732945G>CCA341769027CASQ2c.286C>G (p.His96Asp)
c.562C>G (p.His188Asp)
1g.115732945G>TCA341769028CASQ2c.286C>A (p.His96Asn)
c.562C>A (p.His188Asn)
1g.115732946T>ACA341769029CASQ2c.285A>T (p.Glu95Asp)
c.561A>T (p.Glu187Asp)
1g.115732946T>CCA419896053CASQ2c.285A>G (p.Glu95=)
c.561A>G (p.Glu187=)
1g.115732946T>GCA341769030CASQ2c.285A>C (p.Glu95Asp)
c.561A>C (p.Glu187Asp)
1g.115732947T>ACA341769031CASQ2c.284A>T (p.Glu95Val)
c.560A>T (p.Glu187Val)
1g.115732947T>CCA341769032CASQ2c.284A>G (p.Glu95Gly)
c.560A>G (p.Glu187Gly)
1g.115732947T>GCA341769033CASQ2c.284A>C (p.Glu95Ala)
c.560A>C (p.Glu187Ala)
1g.115732948C>ACA341769035CASQ2c.283G>T (p.Glu95Ter)
c.559G>T (p.Glu187Ter)
1g.115732948C>GCA341769036CASQ2c.283G>C (p.Glu95Gln)
c.559G>C (p.Glu187Gln)
1g.115732948C>TCA341769034CASQ2c.283G>A (p.Glu95Lys)
c.559G>A (p.Glu187Lys)
1g.115732949A>CCA419896054CASQ2c.282T>G (p.Ala94=)
c.558T>G (p.Ala186=)
1g.115732949A>GCA419896055CASQ2c.282T>C (p.Ala94=)
c.558T>C (p.Ala186=)
1g.115732949A>TCA419896056CASQ2c.282T>A (p.Ala94=)
c.558T>A (p.Ala186=)
 gnomAD v4
1g.115732950G>ACA341769037CASQ2c.281C>T (p.Ala94Val)
c.557C>T (p.Ala186Val)
1g.115732950G>CCA341769039CASQ2c.281C>G (p.Ala94Gly)
c.557C>G (p.Ala186Gly)
1g.115732950G>TCA341769038CASQ2c.281C>A (p.Ala94Asp)
c.557C>A (p.Ala186Asp)
1g.115732951C>ACA341769040CASQ2c.280G>T (p.Ala94Ser)
c.556G>T (p.Ala186Ser)
1g.115732951C=CA1190726927CASQ2c.280G= (p.Ala94=)
c.556G= (p.Ala186=)
1g.115732951C>GCA341769041CASQ2c.280G>C (p.Ala94Pro)
c.556G>C (p.Ala186Pro)
1g.115732951C>TCA1023866CASQ2c.280G>A (p.Ala94Thr)
c.556G>A (p.Ala186Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.115732952T>ACA419896060CASQ2c.279A>T (p.Ala93=)
c.555A>T (p.Ala185=)
1g.115732952T>CCA419896058CASQ2c.279A>G (p.Ala93=)
c.555A>G (p.Ala185=)
1g.115732952T>GCA419896059CASQ2c.279A>C (p.Ala93=)
c.555A>C (p.Ala185=)
1g.115732953G>ACA29640352CASQ2c.278C>T (p.Ala93Val)
c.554C>T (p.Ala185Val)
 dbSNP gnomAD v3 gnomAD v4
1g.115732953G>CCA341769042CASQ2c.278C>G (p.Ala93Gly)
c.554C>G (p.Ala185Gly)
 gnomAD v4
1g.115732953G=CA1190726928CASQ2c.278C= (p.Ala93=)
c.554C= (p.Ala185=)
1g.115732953G>TCA341769043CASQ2c.278C>A (p.Ala93Glu)
c.554C>A (p.Ala185Glu)
1g.115732954C>ACA341769044CASQ2c.277G>T (p.Ala93Ser)
c.553G>T (p.Ala185Ser)
1g.115732954C=CA1190726929CASQ2c.277G= (p.Ala93=)
c.553G= (p.Ala185=)
1g.115732954C>GCA341769045CASQ2c.277G>C (p.Ala93Pro)
c.553G>C (p.Ala185Pro)
1g.115732954C>TCA341769046CASQ2c.277G>A (p.Ala93Thr)
c.553G>A (p.Ala185Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.115732955T>ACA341769047CASQ2c.276A>T (p.Glu92Asp)
c.552A>T (p.Glu184Asp)
1g.115732955T>CCA419896062CASQ2c.276A>G (p.Glu92=)
c.552A>G (p.Glu184=)
1g.115732955T>GCA341769048CASQ2c.276A>C (p.Glu92Asp)
c.552A>C (p.Glu184Asp)
1g.115732956T>ACA341769051CASQ2c.275A>T (p.Glu92Val)
c.551A>T (p.Glu184Val)
1g.115732956T>CCA341769050CASQ2c.275A>G (p.Glu92Gly)
c.551A>G (p.Glu184Gly)
 gnomAD v4
1g.115732956T>GCA341769049CASQ2c.275A>C (p.Glu92Ala)
c.551A>C (p.Glu184Ala)
1g.115732957C>ACA341769052CASQ2c.274G>T (p.Glu92Ter)
c.550G>T (p.Glu184Ter)
 gnomAD v4
1g.115732957C=CA1190726930CASQ2c.274G= (p.Glu92=)
c.550G= (p.Glu184=)
1g.115732957C>GCA341769053CASQ2c.274G>C (p.Glu92Gln)
c.550G>C (p.Glu184Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.115732957C>TCA341769054CASQ2c.274G>A (p.Glu92Lys)
c.550G>A (p.Glu184Lys)
1g.115732958T>ACA341769055CASQ2c.273A>T (p.Glu91Asp)
c.549A>T (p.Glu183Asp)
1g.115732958T>CCA419896063CASQ2c.273A>G (p.Glu91=)
c.549A>G (p.Glu183=)
1g.115732958T>GCA341769056CASQ2c.273A>C (p.Glu91Asp)
c.549A>C (p.Glu183Asp)
1g.115732958_115732965delinsTTCAAAAGCA1190726931CASQ2c.266_273delinsCTTTTGAA (p.Ala89=)
c.542_549delinsCTTTTGAA (p.Ala181=)
1g.115732959T>ACA341769057CASQ2c.272A>T (p.Glu91Val)
c.548A>T (p.Glu183Val)
1g.115732959T>CCA341769058CASQ2c.272A>G (p.Glu91Gly)
c.548A>G (p.Glu183Gly)
1g.115732959T>GCA341769059CASQ2c.272A>C (p.Glu91Ala)
c.548A>C (p.Glu183Ala)
1g.115732959_115732965delCA1023867CASQ2c.266_272del (p.Ala89GlufsTer27)
c.542_548del (p.Ala181GlufsTer27)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115732960C>ACA341769060CASQ2c.271G>T (p.Glu91Ter)
c.547G>T (p.Glu183Ter)
1g.115732960C=CA1190726933CASQ2c.271G= (p.Glu91=)
c.547G= (p.Glu183=)
1g.115732960C>GCA341769061CASQ2c.271G>C (p.Glu91Gln)
c.547G>C (p.Glu183Gln)
1g.115732960C>TCA1023868CASQ2c.271G>A (p.Glu91Lys)
c.547G>A (p.Glu183Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115732960_115732961delinsCACA1190726932CASQ2c.270_271delinsTG (p.Phe90=)
c.546_547delinsTG (p.Phe182=)
1g.115732961A>CCA341769063CASQ2c.270T>G (p.Phe90Leu)
c.546T>G (p.Phe182Leu)
1g.115732961A>GCA419896064CASQ2c.270T>C (p.Phe90=)
c.546T>C (p.Phe182=)
1g.115732961A>TCA341769062CASQ2c.270T>A (p.Phe90Leu)
c.546T>A (p.Phe182Leu)
1g.115732964delCA351370CASQ2c.270del (p.Phe90LeufsTer28)
c.546del (p.Phe182LeufsTer28)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115732962A=CA1190726934CASQ2c.269T= (p.Phe90=)
c.545T= (p.Phe182=)
1g.115732962A>CCA341769064CASQ2c.269T>G (p.Phe90Cys)
c.545T>G (p.Phe182Cys)
1g.115732962A>GCA341769065CASQ2c.269T>C (p.Phe90Ser)
c.545T>C (p.Phe182Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.115732962A>TCA341769066CASQ2c.269T>A (p.Phe90Tyr)
c.545T>A (p.Phe182Tyr)
1g.115732963A>CCA341769067CASQ2c.268T>G (p.Phe90Val)
c.544T>G (p.Phe182Val)
1g.115732963A>GCA341769068CASQ2c.268T>C (p.Phe90Leu)
c.544T>C (p.Phe182Leu)
1g.115732963A>TCA341769069CASQ2c.268T>A (p.Phe90Ile)
c.544T>A (p.Phe182Ile)
1g.115732964A=CA1190726935CASQ2c.267T= (p.Ala89=)
c.543T= (p.Ala181=)
1g.115732964A>CCA29640391CASQ2c.267T>G (p.Ala89=)
c.543T>G (p.Ala181=)
 ClinVar dbSNP
1g.115732964A>GCA419896065CASQ2c.267T>C (p.Ala89=)
c.543T>C (p.Ala181=)
 gnomAD v4
1g.115732964A>TCA419896066CASQ2c.267T>A (p.Ala89=)
c.543T>A (p.Ala181=)
1g.115732965G>ACA341769070CASQ2c.266C>T (p.Ala89Val)
c.542C>T (p.Ala181Val)
 gnomAD v4
1g.115732965G>CCA341769071CASQ2c.266C>G (p.Ala89Gly)
c.542C>G (p.Ala181Gly)
1g.115732965G>TCA341769072CASQ2c.266C>A (p.Ala89Asp)
c.542C>A (p.Ala181Asp)
 gnomAD v4
1g.115732965_115732966delinsGCCA1190726936CASQ2c.265_266delinsGC (p.Ala89=)
c.541_542delinsGC (p.Ala181=)
1g.115732966C>ACA341769073CASQ2c.265G>T (p.Ala89Ser)
c.541G>T (p.Ala181Ser)
 COSMIC
1g.115732966C=CA1148268361CASQ2c.265G= (p.Ala89=)
c.541G= (p.Ala181=)
1g.115732966C>GCA1023870CASQ2c.265G>C (p.Ala89Pro)
c.541G>C (p.Ala181Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.115732966C>TCA1023871CASQ2c.265G>A (p.Ala89Thr)
c.541G>A (p.Ala181Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115732967delCA1023869CASQ2c.265del (p.Ala89LeufsTer29)
c.541del (p.Ala181LeufsTer29)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.115732967C>ACA341769075CASQ2c.264G>T (p.Lys88Asn)
c.540G>T (p.Lys180Asn)
1g.115732967C=CA1140803105CASQ2c.264G= (p.Lys88=)
c.540G= (p.Lys180=)
1g.115732967C>GCA341769074CASQ2c.264G>C (p.Lys88Asn)
c.540G>C (p.Lys180Asn)
1g.115732967C>TCA181171CASQ2c.264G>A (p.Lys88=)
c.540G>A (p.Lys180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.115732968T>ACA341769076CASQ2c.263A>T (p.Lys88Met)
c.539A>T (p.Lys180Met)
1g.115732968T>CCA10588840CASQ2c.263A>G (p.Lys88Arg)
c.539A>G (p.Lys180Arg)
 ClinVar dbSNP
1g.115732968T>GCA341769077CASQ2c.263A>C (p.Lys88Thr)
c.539A>C (p.Lys180Thr)
 COSMIC
1g.115732968T=CA1190726937CASQ2c.263A= (p.Lys88=)
c.539A= (p.Lys180=)
1g.115732969T>ACA341769078CASQ2c.262A>T (p.Lys88Ter)
c.538A>T (p.Lys180Ter)
1g.115732969T>CCA341769079CASQ2c.262A>G (p.Lys88Glu)
c.538A>G (p.Lys180Glu)
1g.115732969T>GCA341769080CASQ2c.262A>C (p.Lys88Gln)
c.538A>C (p.Lys180Gln)
 ClinVar
1g.115732970G>ACA419896094CASQ2c.261C>T (p.Tyr87=)
c.537C>T (p.Tyr179=)
1g.115732970G>CCA341769081CASQ2c.261C>G (p.Tyr87Ter)
c.537C>G (p.Tyr179Ter)
1g.115732970G>TCA341769082CASQ2c.261C>A (p.Tyr87Ter)
c.537C>A (p.Tyr179Ter)
 ClinVar gnomAD v4
1g.115732971T>ACA341769083CASQ2c.260A>T (p.Tyr87Phe)
c.536A>T (p.Tyr179Phe)
1g.115732971T>CCA341769084CASQ2c.260A>G (p.Tyr87Cys)
c.536A>G (p.Tyr179Cys)
1g.115732971T>GCA341769085CASQ2c.260A>C (p.Tyr87Ser)
c.536A>C (p.Tyr179Ser)
1g.115732972A>CCA341769086CASQ2c.259T>G (p.Tyr87Asp)
c.535T>G (p.Tyr179Asp)
1g.115732972A>GCA341769088CASQ2c.259T>C (p.Tyr87His)
c.535T>C (p.Tyr179His)
1g.115732972A>TCA341769087CASQ2c.259T>A (p.Tyr87Asn)
c.535T>A (p.Tyr179Asn)
1g.115732973G>ACA419896107CASQ2c.258C>T (p.Tyr86=)
c.534C>T (p.Tyr178=)
1g.115732973G>CCA341769089CASQ2c.258C>G (p.Tyr86Ter)
c.534C>G (p.Tyr178Ter)
1g.115732973G>TCA341769090CASQ2c.258C>A (p.Tyr86Ter)
c.534C>A (p.Tyr178Ter)
1g.115732974T>ACA341769091CASQ2c.257A>T (p.Tyr86Phe)
c.533A>T (p.Tyr178Phe)
1g.115732974T>CCA1023872CASQ2c.257A>G (p.Tyr86Cys)
c.533A>G (p.Tyr178Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.115732974T>GCA341769092CASQ2c.257A>C (p.Tyr86Ser)
c.533A>C (p.Tyr178Ser)
1g.115732974T=CA1190726938CASQ2c.257A= (p.Tyr86=)
c.533A= (p.Tyr178=)

Number of alleles fetched