Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.8957178G>ACA338184707CA6c.301G>A (p.Asp101Asn)
c.121G>A (p.Asp41Asn)
n.99-1732G>A
c.205G>A (p.Asp69Asn)
c.25-1732G>A (n.25-1732G>A)
c.313G>A (p.Asp105Asn)
dbSNP gnomAD v3 gnomAD v4
1g.8957178G>CCA338184708CA6c.301G>C (p.Asp101His)
c.121G>C (p.Asp41His)
n.99-1732G>C
c.205G>C (p.Asp69His)
c.25-1732G>C (n.25-1732G>C)
c.313G>C (p.Asp105His)
1g.8957178G=CA1152580722CA6c.301G= (p.Asp101=)
c.121G= (p.Asp41=)
n.99-1732G=
c.205G= (p.Asp69=)
c.25-1732G= (n.25-1732G=)
c.313G= (p.Asp105=)
1g.8957178G>TCA338184709CA6c.301G>T (p.Asp101Tyr)
c.121G>T (p.Asp41Tyr)
n.99-1732G>T
c.205G>T (p.Asp69Tyr)
c.25-1732G>T (n.25-1732G>T)
c.313G>T (p.Asp105Tyr)
1g.8957179A=CA1152580725CA6c.302A= (p.Asp101=)
c.122A= (p.Asp41=)
n.99-1731A=
c.206A= (p.Asp69=)
c.25-1731A= (n.25-1731A=)
c.314A= (p.Asp105=)
1g.8957179A>CCA338184711CA6c.302A>C (p.Asp101Ala)
c.122A>C (p.Asp41Ala)
n.99-1731A>C
c.206A>C (p.Asp69Ala)
c.25-1731A>C (n.25-1731A>C)
c.314A>C (p.Asp105Ala)
1g.8957179A>GCA572958CA6c.302A>G (p.Asp101Gly)
c.122A>G (p.Asp41Gly)
n.99-1731A>G
c.206A>G (p.Asp69Gly)
c.25-1731A>G (n.25-1731A>G)
c.314A>G (p.Asp105Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.8957179A>TCA338184710CA6c.302A>T (p.Asp101Val)
c.122A>T (p.Asp41Val)
n.99-1731A>T
c.206A>T (p.Asp69Val)
c.25-1731A>T (n.25-1731A>T)
c.314A>T (p.Asp105Val)
1g.8957180C>ACA338184712CA6c.303C>A (p.Asp101Glu)
c.123C>A (p.Asp41Glu)
n.99-1730C>A
c.207C>A (p.Asp69Glu)
c.25-1730C>A (n.25-1730C>A)
c.315C>A (p.Asp105Glu)
gnomAD v4
1g.8957180C=CA1143367339CA6c.303C= (p.Asp101=)
c.123C= (p.Asp41=)
n.99-1730C=
c.207C= (p.Asp69=)
c.25-1730C= (n.25-1730C=)
c.315C= (p.Asp105=)
1g.8957180C>GCA338184713CA6c.303C>G (p.Asp101Glu)
c.123C>G (p.Asp41Glu)
n.99-1730C>G
c.207C>G (p.Asp69Glu)
c.25-1730C>G (n.25-1730C>G)
c.315C>G (p.Asp105Glu)
dbSNP gnomAD v2 gnomAD v4
1g.8957180C>TCA572959CA6c.303C>T (p.Asp101=)
c.123C>T (p.Asp41=)
n.99-1730C>T
c.207C>T (p.Asp69=)
c.25-1730C>T (n.25-1730C>T)
c.315C>T (p.Asp105=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8957181G>ACA572960CA6c.304G>A (p.Gly102Ser)
c.124G>A (p.Gly42Ser)
n.99-1729G>A
c.208G>A (p.Gly70Ser)
c.25-1729G>A (n.25-1729G>A)
c.316G>A (p.Gly106Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.8957181G>CCA338184714CA6c.304G>C (p.Gly102Arg)
c.124G>C (p.Gly42Arg)
n.99-1729G>C
c.208G>C (p.Gly70Arg)
c.25-1729G>C (n.25-1729G>C)
c.316G>C (p.Gly106Arg)
1g.8957181G=CA1146129864CA6c.304G= (p.Gly102=)
c.124G= (p.Gly42=)
n.99-1729G=
c.208G= (p.Gly70=)
c.25-1729G= (n.25-1729G=)
c.316G= (p.Gly106=)
1g.8957181G>TCA572961CA6c.304G>T (p.Gly102Cys)
c.124G>T (p.Gly42Cys)
n.99-1729G>T
c.208G>T (p.Gly70Cys)
c.25-1729G>T (n.25-1729G>T)
c.316G>T (p.Gly106Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.8957182G>ACA338184717CA6c.305G>A (p.Gly102Asp)
c.125G>A (p.Gly42Asp)
n.99-1728G>A
c.209G>A (p.Gly70Asp)
c.25-1728G>A (n.25-1728G>A)
c.317G>A (p.Gly106Asp)
gnomAD v4
1g.8957182G>CCA338184715CA6c.305G>C (p.Gly102Ala)
c.125G>C (p.Gly42Ala)
n.99-1728G>C
c.209G>C (p.Gly70Ala)
c.25-1728G>C (n.25-1728G>C)
c.317G>C (p.Gly106Ala)
1g.8957182G=CA1152580736CA6c.305G= (p.Gly102=)
c.125G= (p.Gly42=)
n.99-1728G=
c.209G= (p.Gly70=)
c.25-1728G= (n.25-1728G=)
c.317G= (p.Gly106=)
1g.8957182G>TCA338184716CA6c.305G>T (p.Gly102Val)
c.125G>T (p.Gly42Val)
n.99-1728G>T
c.209G>T (p.Gly70Val)
c.25-1728G>T (n.25-1728G>T)
c.317G>T (p.Gly106Val)
1g.8957182_8957183insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCA521451251CA6c.305_306insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT (p.Gly102_Thr103insTrpGluAlaGluAlaGlyGlySerLeuGluVal)
c.125_126insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT (p.Gly42_Thr43insTrpGluAlaGluAlaGlyGlySerLeuGluVal)
n.99-1728_99-1727insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT
c.209_210insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT (p.Gly70_Thr71insTrpGluAlaGluAlaGlyGlySerLeuGluVal)
c.25-1728_25-1727insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT (n.25-1728_25-1727insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT)
c.317_318insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT (p.Gly106_Thr107insTrpGluAlaGluAlaGlyGlySerLeuGluVal)
dbSNP gnomAD v2
1g.8957183C>ACA415858685CA6c.306C>A (p.Gly102=)
c.126C>A (p.Gly42=)
n.99-1727C>A
c.210C>A (p.Gly70=)
c.25-1727C>A (n.25-1727C>A)
c.318C>A (p.Gly106=)
gnomAD v4
1g.8957183C=CA1152580744CA6c.306C= (p.Gly102=)
c.126C= (p.Gly42=)
n.99-1727C=
c.210C= (p.Gly70=)
c.25-1727C= (n.25-1727C=)
c.318C= (p.Gly106=)
1g.8957183C>GCA415858687CA6c.306C>G (p.Gly102=)
c.126C>G (p.Gly42=)
n.99-1727C>G
c.210C>G (p.Gly70=)
c.25-1727C>G (n.25-1727C>G)
c.318C>G (p.Gly106=)
1g.8957183C>TCA17706769CA6c.306C>T (p.Gly102=)
c.126C>T (p.Gly42=)
n.99-1727C>T
c.210C>T (p.Gly70=)
c.25-1727C>T (n.25-1727C>T)
c.318C>T (p.Gly106=)
dbSNP gnomAD v4
1g.8957184A=CA1152580748CA6c.307A= (p.Thr103=)
c.127A= (p.Thr43=)
n.99-1726A=
c.211A= (p.Thr71=)
c.25-1726A= (n.25-1726A=)
c.319A= (p.Thr107=)
1g.8957184A>CCA338184718CA6c.307A>C (p.Thr103Pro)
c.127A>C (p.Thr43Pro)
n.99-1726A>C
c.211A>C (p.Thr71Pro)
c.25-1726A>C (n.25-1726A>C)
c.319A>C (p.Thr107Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8957184A>GCA338184719CA6c.307A>G (p.Thr103Ala)
c.127A>G (p.Thr43Ala)
n.99-1726A>G
c.211A>G (p.Thr71Ala)
c.25-1726A>G (n.25-1726A>G)
c.319A>G (p.Thr107Ala)
dbSNP gnomAD v3
1g.8957184A>TCA338184720CA6c.307A>T (p.Thr103Ser)
c.127A>T (p.Thr43Ser)
n.99-1726A>T
c.211A>T (p.Thr71Ser)
c.25-1726A>T (n.25-1726A>T)
c.319A>T (p.Thr107Ser)
1g.8957185C>ACA338184721CA6c.308C>A (p.Thr103Asn)
c.128C>A (p.Thr43Asn)
n.99-1725C>A
c.212C>A (p.Thr71Asn)
c.25-1725C>A (n.25-1725C>A)
c.320C>A (p.Thr107Asn)
1g.8957185C>GCA338184722CA6c.308C>G (p.Thr103Ser)
c.128C>G (p.Thr43Ser)
n.99-1725C>G
c.212C>G (p.Thr71Ser)
c.25-1725C>G (n.25-1725C>G)
c.320C>G (p.Thr107Ser)
1g.8957185C>TCA338184723CA6c.308C>T (p.Thr103Ile)
c.128C>T (p.Thr43Ile)
n.99-1725C>T
c.212C>T (p.Thr71Ile)
c.25-1725C>T (n.25-1725C>T)
c.320C>T (p.Thr107Ile)
1g.8957186T>ACA415858704CA6c.309T>A (p.Thr103=)
c.129T>A (p.Thr43=)
n.99-1724T>A
c.213T>A (p.Thr71=)
c.25-1724T>A (n.25-1724T>A)
c.321T>A (p.Thr107=)
1g.8957186T>CCA415858701CA6c.309T>C (p.Thr103=)
c.129T>C (p.Thr43=)
n.99-1724T>C
c.213T>C (p.Thr71=)
c.25-1724T>C (n.25-1724T>C)
c.321T>C (p.Thr107=)
gnomAD v4
1g.8957186T>GCA415858702CA6c.309T>G (p.Thr103=)
c.129T>G (p.Thr43=)
n.99-1724T>G
c.213T>G (p.Thr71=)
c.25-1724T>G (n.25-1724T>G)
c.321T>G (p.Thr107=)
1g.8957187G>ACA338184725CA6c.310G>A (p.Val104Ile)
c.130G>A (p.Val44Ile)
n.99-1723G>A
c.214G>A (p.Val72Ile)
c.25-1723G>A (n.25-1723G>A)
c.322G>A (p.Val108Ile)
1g.8957187G>CCA338184726CA6c.310G>C (p.Val104Leu)
c.130G>C (p.Val44Leu)
n.99-1723G>C
c.214G>C (p.Val72Leu)
c.25-1723G>C (n.25-1723G>C)
c.322G>C (p.Val108Leu)
1g.8957187G>TCA338184724CA6c.310G>T (p.Val104Leu)
c.130G>T (p.Val44Leu)
n.99-1723G>T
c.214G>T (p.Val72Leu)
c.25-1723G>T (n.25-1723G>T)
c.322G>T (p.Val108Leu)
1g.8957188T>ACA338184727CA6c.311T>A (p.Val104Glu)
c.131T>A (p.Val44Glu)
n.99-1722T>A
c.215T>A (p.Val72Glu)
c.25-1722T>A (n.25-1722T>A)
c.323T>A (p.Val108Glu)
1g.8957188T>CCA338184729CA6c.311T>C (p.Val104Ala)
c.131T>C (p.Val44Ala)
n.99-1722T>C
c.215T>C (p.Val72Ala)
c.25-1722T>C (n.25-1722T>C)
c.323T>C (p.Val108Ala)
1g.8957188T>GCA338184728CA6c.311T>G (p.Val104Gly)
c.131T>G (p.Val44Gly)
n.99-1722T>G
c.215T>G (p.Val72Gly)
c.25-1722T>G (n.25-1722T>G)
c.323T>G (p.Val108Gly)
1g.8957189A>CCA415858715CA6c.312A>C (p.Val104=)
c.132A>C (p.Val44=)
n.99-1721A>C
c.216A>C (p.Val72=)
c.25-1721A>C (n.25-1721A>C)
c.324A>C (p.Val108=)
1g.8957189A>GCA415858716CA6c.312A>G (p.Val104=)
c.132A>G (p.Val44=)
n.99-1721A>G
c.216A>G (p.Val72=)
c.25-1721A>G (n.25-1721A>G)
c.324A>G (p.Val108=)
gnomAD v4
1g.8957189A>TCA415858719CA6c.312A>T (p.Val104=)
c.132A>T (p.Val44=)
n.99-1721A>T
c.216A>T (p.Val72=)
c.25-1721A>T (n.25-1721A>T)
c.324A>T (p.Val108=)
1g.8957190T>ACA338184730CA6c.313T>A (p.Tyr105Asn)
c.133T>A (p.Tyr45Asn)
n.99-1720T>A
c.217T>A (p.Tyr73Asn)
c.25-1720T>A (n.25-1720T>A)
c.325T>A (p.Tyr109Asn)
1g.8957190T>CCA338184732CA6c.313T>C (p.Tyr105His)
c.133T>C (p.Tyr45His)
n.99-1720T>C
c.217T>C (p.Tyr73His)
c.25-1720T>C (n.25-1720T>C)
c.325T>C (p.Tyr109His)
dbSNP
1g.8957190T>GCA338184731CA6c.313T>G (p.Tyr105Asp)
c.133T>G (p.Tyr45Asp)
n.99-1720T>G
c.217T>G (p.Tyr73Asp)
c.25-1720T>G (n.25-1720T>G)
c.325T>G (p.Tyr109Asp)
1g.8957190T=CA1152580750CA6c.313T= (p.Tyr105=)
c.133T= (p.Tyr45=)
n.99-1720T=
c.217T= (p.Tyr73=)
c.25-1720T= (n.25-1720T=)
c.325T= (p.Tyr109=)
1g.8957191A>CCA338184733CA6c.314A>C (p.Tyr105Ser)
c.134A>C (p.Tyr45Ser)
n.99-1719A>C
c.218A>C (p.Tyr73Ser)
c.25-1719A>C (n.25-1719A>C)
c.326A>C (p.Tyr109Ser)
1g.8957191A>GCA338184735CA6c.314A>G (p.Tyr105Cys)
c.134A>G (p.Tyr45Cys)
n.99-1719A>G
c.218A>G (p.Tyr73Cys)
c.25-1719A>G (n.25-1719A>G)
c.326A>G (p.Tyr109Cys)
1g.8957191A>TCA338184734CA6c.314A>T (p.Tyr105Phe)
c.134A>T (p.Tyr45Phe)
n.99-1719A>T
c.218A>T (p.Tyr73Phe)
c.25-1719A>T (n.25-1719A>T)
c.326A>T (p.Tyr109Phe)
1g.8957192C>ACA338184736CA6c.315C>A (p.Tyr105Ter)
c.135C>A (p.Tyr45Ter)
n.99-1718C>A
c.219C>A (p.Tyr73Ter)
c.25-1718C>A (n.25-1718C>A)
c.327C>A (p.Tyr109Ter)
1g.8957192C=CA1152580755CA6c.315C= (p.Tyr105=)
c.135C= (p.Tyr45=)
n.99-1718C=
c.219C= (p.Tyr73=)
c.25-1718C= (n.25-1718C=)
c.327C= (p.Tyr109=)
1g.8957192C>GCA338184737CA6c.315C>G (p.Tyr105Ter)
c.135C>G (p.Tyr45Ter)
n.99-1718C>G
c.219C>G (p.Tyr73Ter)
c.25-1718C>G (n.25-1718C>G)
c.327C>G (p.Tyr109Ter)
1g.8957192C>TCA415858735CA6c.315C>T (p.Tyr105=)
c.135C>T (p.Tyr45=)
n.99-1718C>T
c.219C>T (p.Tyr73=)
c.25-1718C>T (n.25-1718C>T)
c.327C>T (p.Tyr109=)
dbSNP gnomAD v4
1g.8957193A>CCA338184738CA6c.316A>C (p.Ile106Leu)
c.136A>C (p.Ile46Leu)
n.99-1717A>C
c.220A>C (p.Ile74Leu)
c.25-1717A>C (n.25-1717A>C)
c.328A>C (p.Ile110Leu)
1g.8957193A>GCA338184740CA6c.316A>G (p.Ile106Val)
c.136A>G (p.Ile46Val)
n.99-1717A>G
c.220A>G (p.Ile74Val)
c.25-1717A>G (n.25-1717A>G)
c.328A>G (p.Ile110Val)
1g.8957193A>TCA338184739CA6c.316A>T (p.Ile106Leu)
c.136A>T (p.Ile46Leu)
n.99-1717A>T
c.220A>T (p.Ile74Leu)
c.25-1717A>T (n.25-1717A>T)
c.328A>T (p.Ile110Leu)
1g.8957194T>ACA338184741CA6c.317T>A (p.Ile106Lys)
c.137T>A (p.Ile46Lys)
n.99-1716T>A
c.221T>A (p.Ile74Lys)
c.25-1716T>A (n.25-1716T>A)
c.329T>A (p.Ile110Lys)
1g.8957194T>CCA338184742CA6c.317T>C (p.Ile106Thr)
c.137T>C (p.Ile46Thr)
n.99-1716T>C
c.221T>C (p.Ile74Thr)
c.25-1716T>C (n.25-1716T>C)
c.329T>C (p.Ile110Thr)
1g.8957194T>GCA338184743CA6c.317T>G (p.Ile106Arg)
c.137T>G (p.Ile46Arg)
n.99-1716T>G
c.221T>G (p.Ile74Arg)
c.25-1716T>G (n.25-1716T>G)
c.329T>G (p.Ile110Arg)
gnomAD v4
1g.8957194T=CA1152580760CA6c.317T= (p.Ile106=)
c.137T= (p.Ile46=)
n.99-1716T=
c.221T= (p.Ile74=)
c.25-1716T= (n.25-1716T=)
c.329T= (p.Ile110=)
1g.8957195A=CA1152580763CA6c.318A= (p.Ile106=)
c.138A= (p.Ile46=)
n.99-1715A=
c.222A= (p.Ile74=)
c.25-1715A= (n.25-1715A=)
c.330A= (p.Ile110=)
1g.8957195A>CCA415858748CA6c.318A>C (p.Ile106=)
c.138A>C (p.Ile46=)
n.99-1715A>C
c.222A>C (p.Ile74=)
c.25-1715A>C (n.25-1715A>C)
c.330A>C (p.Ile110=)
1g.8957195A>GCA338184744CA6c.318A>G (p.Ile106Met)
c.138A>G (p.Ile46Met)
n.99-1715A>G
c.222A>G (p.Ile74Met)
c.25-1715A>G (n.25-1715A>G)
c.330A>G (p.Ile110Met)
gnomAD v4
1g.8957195A>TCA415858752CA6c.318A>T (p.Ile106=)
c.138A>T (p.Ile46=)
n.99-1715A>T
c.222A>T (p.Ile74=)
c.25-1715A>T (n.25-1715A>T)
c.330A>T (p.Ile110=)
dbSNP gnomAD v2 gnomAD v4
1g.8957195dupCA572962CA6c.318dup (p.Ala107SerfsTer19)
c.138dup (p.Ala47SerfsTer19)
n.99-1715dup
c.222dup (p.Ala75SerfsTer19)
c.25-1715dup (n.25-1715dup)
c.330dup (p.Ala111SerfsTer19)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.8957196G>ACA17706792CA6c.319G>A (p.Ala107Thr)
c.139G>A (p.Ala47Thr)
n.99-1714G>A
c.223G>A (p.Ala75Thr)
c.25-1714G>A (n.25-1714G>A)
c.331G>A (p.Ala111Thr)
dbSNP
1g.8957196G>CCA338184746CA6c.319G>C (p.Ala107Pro)
c.139G>C (p.Ala47Pro)
n.99-1714G>C
c.223G>C (p.Ala75Pro)
c.25-1714G>C (n.25-1714G>C)
c.331G>C (p.Ala111Pro)
1g.8957196G=CA1140690138CA6c.319G= (p.Ala107=)
c.139G= (p.Ala47=)
n.99-1714G=
c.223G= (p.Ala75=)
c.25-1714G= (n.25-1714G=)
c.331G= (p.Ala111=)
1g.8957196G>TCA338184745CA6c.319G>T (p.Ala107Ser)
c.139G>T (p.Ala47Ser)
n.99-1714G>T
c.223G>T (p.Ala75Ser)
c.25-1714G>T (n.25-1714G>T)
c.331G>T (p.Ala111Ser)
1g.8957197C>ACA338184747CA6c.320C>A (p.Ala107Asp)
c.140C>A (p.Ala47Asp)
n.99-1713C>A
c.224C>A (p.Ala75Asp)
c.25-1713C>A (n.25-1713C>A)
c.332C>A (p.Ala111Asp)
1g.8957197C>GCA338184748CA6c.320C>G (p.Ala107Gly)
c.140C>G (p.Ala47Gly)
n.99-1713C>G
c.224C>G (p.Ala75Gly)
c.25-1713C>G (n.25-1713C>G)
c.332C>G (p.Ala111Gly)
1g.8957197C>TCA338184749CA6c.320C>T (p.Ala107Val)
c.140C>T (p.Ala47Val)
n.99-1713C>T
c.224C>T (p.Ala75Val)
c.25-1713C>T (n.25-1713C>T)
c.332C>T (p.Ala111Val)
1g.8957198C>ACA415858765CA6c.321C>A (p.Ala107=)
c.141C>A (p.Ala47=)
n.99-1712C>A
c.225C>A (p.Ala75=)
c.25-1712C>A (n.25-1712C>A)
c.333C>A (p.Ala111=)
1g.8957198C>GCA415858767CA6c.321C>G (p.Ala107=)
c.141C>G (p.Ala47=)
n.99-1712C>G
c.225C>G (p.Ala75=)
c.25-1712C>G (n.25-1712C>G)
c.333C>G (p.Ala111=)
1g.8957198C>TCA415858769CA6c.321C>T (p.Ala107=)
c.141C>T (p.Ala47=)
n.99-1712C>T
c.225C>T (p.Ala75=)
c.25-1712C>T (n.25-1712C>T)
c.333C>T (p.Ala111=)
1g.8957199C>ACA338184750CA6c.322C>A (p.Gln108Lys)
c.142C>A (p.Gln48Lys)
n.99-1711C>A
c.226C>A (p.Gln76Lys)
c.25-1711C>A (n.25-1711C>A)
c.334C>A (p.Gln112Lys)
gnomAD v4
1g.8957199C=CA1145407338CA6c.322C= (p.Gln108=)
c.142C= (p.Gln48=)
n.99-1711C=
c.226C= (p.Gln76=)
c.25-1711C= (n.25-1711C=)
c.334C= (p.Gln112=)
1g.8957199C>GCA338184751CA6c.322C>G (p.Gln108Glu)
c.142C>G (p.Gln48Glu)
n.99-1711C>G
c.226C>G (p.Gln76Glu)
c.25-1711C>G (n.25-1711C>G)
c.334C>G (p.Gln112Glu)
1g.8957199C>TCA17706793CA6c.322C>T (p.Gln108Ter)
c.142C>T (p.Gln48Ter)
n.99-1711C>T
c.226C>T (p.Gln76Ter)
c.25-1711C>T (n.25-1711C>T)
c.334C>T (p.Gln112Ter)
dbSNP gnomAD v2 gnomAD v4
1g.8957200A>CCA338184752CA6c.323A>C (p.Gln108Pro)
c.143A>C (p.Gln48Pro)
n.99-1710A>C
c.227A>C (p.Gln76Pro)
c.25-1710A>C (n.25-1710A>C)
c.335A>C (p.Gln112Pro)
1g.8957200A>GCA338184754CA6c.323A>G (p.Gln108Arg)
c.143A>G (p.Gln48Arg)
n.99-1710A>G
c.227A>G (p.Gln76Arg)
c.25-1710A>G (n.25-1710A>G)
c.335A>G (p.Gln112Arg)
gnomAD v4
1g.8957200A>TCA338184753CA6c.323A>T (p.Gln108Leu)
c.143A>T (p.Gln48Leu)
n.99-1710A>T
c.227A>T (p.Gln76Leu)
c.25-1710A>T (n.25-1710A>T)
c.335A>T (p.Gln112Leu)
1g.8957201G>ACA415858782CA6c.324G>A (p.Gln108=)
c.144G>A (p.Gln48=)
n.99-1709G>A
c.228G>A (p.Gln76=)
c.25-1709G>A (n.25-1709G>A)
c.336G>A (p.Gln112=)
1g.8957201G>CCA338184755CA6c.324G>C (p.Gln108His)
c.144G>C (p.Gln48His)
n.99-1709G>C
c.228G>C (p.Gln76His)
c.25-1709G>C (n.25-1709G>C)
c.336G>C (p.Gln112His)
1g.8957201G>TCA338184756CA6c.324G>T (p.Gln108His)
c.144G>T (p.Gln48His)
n.99-1709G>T
c.228G>T (p.Gln76His)
c.25-1709G>T (n.25-1709G>T)
c.336G>T (p.Gln112His)
1g.8957202C>ACA338184757CA6c.325C>A (p.Gln109Lys)
c.145C>A (p.Gln49Lys)
n.99-1708C>A
c.229C>A (p.Gln77Lys)
c.25-1708C>A (n.25-1708C>A)
c.337C>A (p.Gln113Lys)
1g.8957202C>GCA338184758CA6c.325C>G (p.Gln109Glu)
c.145C>G (p.Gln49Glu)
n.99-1708C>G
c.229C>G (p.Gln77Glu)
c.25-1708C>G (n.25-1708C>G)
c.337C>G (p.Gln113Glu)
1g.8957202C>TCA338184759CA6c.325C>T (p.Gln109Ter)
c.145C>T (p.Gln49Ter)
n.99-1708C>T
c.229C>T (p.Gln77Ter)
c.25-1708C>T (n.25-1708C>T)
c.337C>T (p.Gln113Ter)
1g.8957203A>CCA338184760CA6c.326A>C (p.Gln109Pro)
c.146A>C (p.Gln49Pro)
n.99-1707A>C
c.230A>C (p.Gln77Pro)
c.25-1707A>C (n.25-1707A>C)
c.338A>C (p.Gln113Pro)
1g.8957203A>GCA338184761CA6c.326A>G (p.Gln109Arg)
c.146A>G (p.Gln49Arg)
n.99-1707A>G
c.230A>G (p.Gln77Arg)
c.25-1707A>G (n.25-1707A>G)
c.338A>G (p.Gln113Arg)
gnomAD v4
1g.8957203A>TCA338184762CA6c.326A>T (p.Gln109Leu)
c.146A>T (p.Gln49Leu)
n.99-1707A>T
c.230A>T (p.Gln77Leu)
c.25-1707A>T (n.25-1707A>T)
c.338A>T (p.Gln113Leu)
1g.8957204G>ACA415858795CA6c.327G>A (p.Gln109=)
c.147G>A (p.Gln49=)
n.99-1706G>A
c.231G>A (p.Gln77=)
c.25-1706G>A (n.25-1706G>A)
c.339G>A (p.Gln113=)
1g.8957204G>CCA338184763CA6c.327G>C (p.Gln109His)
c.147G>C (p.Gln49His)
n.99-1706G>C
c.231G>C (p.Gln77His)
c.25-1706G>C (n.25-1706G>C)
c.339G>C (p.Gln113His)
1g.8957204G>TCA338184764CA6c.327G>T (p.Gln109His)
c.147G>T (p.Gln49His)
n.99-1706G>T
c.231G>T (p.Gln77His)
c.25-1706G>T (n.25-1706G>T)
c.339G>T (p.Gln113His)
1g.8957205A=CA1152580768CA6c.328A= (p.Met110=)
c.148A= (p.Met50=)
n.99-1705A=
c.232A= (p.Met78=)
c.25-1705A= (n.25-1705A=)
c.340A= (p.Met114=)
1g.8957205A>CCA338184765CA6c.328A>C (p.Met110Leu)
c.148A>C (p.Met50Leu)
n.99-1705A>C
c.232A>C (p.Met78Leu)
c.25-1705A>C (n.25-1705A>C)
c.340A>C (p.Met114Leu)
1g.8957205A>GCA338184767CA6c.328A>G (p.Met110Val)
c.148A>G (p.Met50Val)
n.99-1705A>G
c.232A>G (p.Met78Val)
c.25-1705A>G (n.25-1705A>G)
c.340A>G (p.Met114Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8957205A>TCA338184766CA6c.328A>T (p.Met110Leu)
c.148A>T (p.Met50Leu)
n.99-1705A>T
c.232A>T (p.Met78Leu)
c.25-1705A>T (n.25-1705A>T)
c.340A>T (p.Met114Leu)
1g.8957206T>ACA572963CA6c.329T>A (p.Met110Lys)
c.149T>A (p.Met50Lys)
n.99-1704T>A
c.233T>A (p.Met78Lys)
c.25-1704T>A (n.25-1704T>A)
c.341T>A (p.Met114Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.8957206T>CCA338184768CA6c.329T>C (p.Met110Thr)
c.149T>C (p.Met50Thr)
n.99-1704T>C
c.233T>C (p.Met78Thr)
c.25-1704T>C (n.25-1704T>C)
c.341T>C (p.Met114Thr)
1g.8957206T>GCA338184769CA6c.329T>G (p.Met110Arg)
c.149T>G (p.Met50Arg)
n.99-1704T>G
c.233T>G (p.Met78Arg)
c.25-1704T>G (n.25-1704T>G)
c.341T>G (p.Met114Arg)
1g.8957206T=CA1152580771CA6c.329T= (p.Met110=)
c.149T= (p.Met50=)
n.99-1704T=
c.233T= (p.Met78=)
c.25-1704T= (n.25-1704T=)
c.341T= (p.Met114=)
1g.8957207G>ACA338184770CA6c.330G>A (p.Met110Ile)
c.150G>A (p.Met50Ile)
n.99-1703G>A
c.234G>A (p.Met78Ile)
c.25-1703G>A (n.25-1703G>A)
c.342G>A (p.Met114Ile)
gnomAD v4
1g.8957207G>CCA338184771CA6c.330G>C (p.Met110Ile)
c.150G>C (p.Met50Ile)
n.99-1703G>C
c.234G>C (p.Met78Ile)
c.25-1703G>C (n.25-1703G>C)
c.342G>C (p.Met114Ile)
1g.8957207G>TCA338184772CA6c.330G>T (p.Met110Ile)
c.150G>T (p.Met50Ile)
n.99-1703G>T
c.234G>T (p.Met78Ile)
c.25-1703G>T (n.25-1703G>T)
c.342G>T (p.Met114Ile)
1g.8957208C>ACA338184773CA6c.331C>A (p.His111Asn)
c.151C>A (p.His51Asn)
n.99-1702C>A
c.235C>A (p.His79Asn)
c.25-1702C>A (n.25-1702C>A)
c.343C>A (p.His115Asn)
gnomAD v4
1g.8957208C=CA1152580772CA6c.331C= (p.His111=)
c.151C= (p.His51=)
n.99-1702C=
c.235C= (p.His79=)
c.25-1702C= (n.25-1702C=)
c.343C= (p.His115=)
1g.8957208C>GCA338184774CA6c.331C>G (p.His111Asp)
c.151C>G (p.His51Asp)
n.99-1702C>G
c.235C>G (p.His79Asp)
c.25-1702C>G (n.25-1702C>G)
c.343C>G (p.His115Asp)
1g.8957208C>TCA338184775CA6c.331C>T (p.His111Tyr)
c.151C>T (p.His51Tyr)
n.99-1702C>T
c.235C>T (p.His79Tyr)
c.25-1702C>T (n.25-1702C>T)
c.343C>T (p.His115Tyr)
dbSNP
1g.8957209A=CA1152580775CA6c.332A= (p.His111=)
c.152A= (p.His51=)
n.99-1701A=
c.236A= (p.His79=)
c.25-1701A= (n.25-1701A=)
c.344A= (p.His115=)
1g.8957209A>CCA338184776CA6c.332A>C (p.His111Pro)
c.152A>C (p.His51Pro)
n.99-1701A>C
c.236A>C (p.His79Pro)
c.25-1701A>C (n.25-1701A>C)
c.344A>C (p.His115Pro)
dbSNP gnomAD v3 gnomAD v4
1g.8957209A>GCA338184777CA6c.332A>G (p.His111Arg)
c.152A>G (p.His51Arg)
n.99-1701A>G
c.236A>G (p.His79Arg)
c.25-1701A>G (n.25-1701A>G)
c.344A>G (p.His115Arg)
gnomAD v4
1g.8957209A>TCA338184778CA6c.332A>T (p.His111Leu)
c.152A>T (p.His51Leu)
n.99-1701A>T
c.236A>T (p.His79Leu)
c.25-1701A>T (n.25-1701A>T)
c.344A>T (p.His115Leu)
1g.8957210C>ACA338184779CA6c.333C>A (p.His111Gln)
c.153C>A (p.His51Gln)
n.99-1700C>A
c.237C>A (p.His79Gln)
c.25-1700C>A (n.25-1700C>A)
c.345C>A (p.His115Gln)
gnomAD v4
1g.8957210C>GCA338184780CA6c.333C>G (p.His111Gln)
c.153C>G (p.His51Gln)
n.99-1700C>G
c.237C>G (p.His79Gln)
c.25-1700C>G (n.25-1700C>G)
c.345C>G (p.His115Gln)
1g.8957210C>TCA415858828CA6c.333C>T (p.His111=)
c.153C>T (p.His51=)
n.99-1700C>T
c.237C>T (p.His79=)
c.25-1700C>T (n.25-1700C>T)
c.345C>T (p.His115=)
gnomAD v4
1g.8957211T>ACA338184781CA6c.334T>A (p.Phe112Ile)
c.154T>A (p.Phe52Ile)
n.99-1699T>A
c.238T>A (p.Phe80Ile)
c.25-1699T>A (n.25-1699T>A)
c.346T>A (p.Phe116Ile)
1g.8957211T>CCA338184782CA6c.334T>C (p.Phe112Leu)
c.154T>C (p.Phe52Leu)
n.99-1699T>C
c.238T>C (p.Phe80Leu)
c.25-1699T>C (n.25-1699T>C)
c.346T>C (p.Phe116Leu)
1g.8957211T>GCA338184783CA6c.334T>G (p.Phe112Val)
c.154T>G (p.Phe52Val)
n.99-1699T>G
c.238T>G (p.Phe80Val)
c.25-1699T>G (n.25-1699T>G)
c.346T>G (p.Phe116Val)
1g.8957212T>ACA338184784CA6c.335T>A (p.Phe112Tyr)
c.155T>A (p.Phe52Tyr)
n.99-1698T>A
c.239T>A (p.Phe80Tyr)
c.25-1698T>A (n.25-1698T>A)
c.347T>A (p.Phe116Tyr)
1g.8957212T>CCA338184785CA6c.335T>C (p.Phe112Ser)
c.155T>C (p.Phe52Ser)
n.99-1698T>C
c.239T>C (p.Phe80Ser)
c.25-1698T>C (n.25-1698T>C)
c.347T>C (p.Phe116Ser)
gnomAD v4
1g.8957212T>GCA338184786CA6c.335T>G (p.Phe112Cys)
c.155T>G (p.Phe52Cys)
n.99-1698T>G
c.239T>G (p.Phe80Cys)
c.25-1698T>G (n.25-1698T>G)
c.347T>G (p.Phe116Cys)
1g.8957213T>ACA338184787CA6c.336T>A (p.Phe112Leu)
c.156T>A (p.Phe52Leu)
n.99-1697T>A
c.240T>A (p.Phe80Leu)
c.25-1697T>A (n.25-1697T>A)
c.348T>A (p.Phe116Leu)
1g.8957213T>CCA415858844CA6c.336T>C (p.Phe112=)
c.156T>C (p.Phe52=)
n.99-1697T>C
c.240T>C (p.Phe80=)
c.25-1697T>C (n.25-1697T>C)
c.348T>C (p.Phe116=)
1g.8957213T>GCA338184788CA6c.336T>G (p.Phe112Leu)
c.156T>G (p.Phe52Leu)
n.99-1697T>G
c.240T>G (p.Phe80Leu)
c.25-1697T>G (n.25-1697T>G)
c.348T>G (p.Phe116Leu)
1g.8957214C>ACA338184789CA6c.337C>A (p.His113Asn)
c.157C>A (p.His53Asn)
n.99-1696C>A
c.241C>A (p.His81Asn)
c.25-1696C>A (n.25-1696C>A)
c.349C>A (p.His117Asn)
1g.8957214C=CA1143387258CA6c.337C= (p.His113=)
c.157C= (p.His53=)
n.99-1696C=
c.241C= (p.His81=)
c.25-1696C= (n.25-1696C=)
c.349C= (p.His117=)
1g.8957214C>GCA338184790CA6c.337C>G (p.His113Asp)
c.157C>G (p.His53Asp)
n.99-1696C>G
c.241C>G (p.His81Asp)
c.25-1696C>G (n.25-1696C>G)
c.349C>G (p.His117Asp)
1g.8957214C>TCA572964CA6c.337C>T (p.His113Tyr)
c.157C>T (p.His53Tyr)
n.99-1696C>T
c.241C>T (p.His81Tyr)
c.25-1696C>T (n.25-1696C>T)
c.349C>T (p.His117Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8957215A>CCA338184792CA6c.338A>C (p.His113Pro)
c.158A>C (p.His53Pro)
n.99-1695A>C
c.242A>C (p.His81Pro)
c.25-1695A>C (n.25-1695A>C)
c.350A>C (p.His117Pro)
1g.8957215A>GCA338184793CA6c.338A>G (p.His113Arg)
c.158A>G (p.His53Arg)
n.99-1695A>G
c.242A>G (p.His81Arg)
c.25-1695A>G (n.25-1695A>G)
c.350A>G (p.His117Arg)
1g.8957215A>TCA338184791CA6c.338A>T (p.His113Leu)
c.158A>T (p.His53Leu)
n.99-1695A>T
c.242A>T (p.His81Leu)
c.25-1695A>T (n.25-1695A>T)
c.350A>T (p.His117Leu)
1g.8957216C>ACA338184795CA6c.339C>A (p.His113Gln)
c.159C>A (p.His53Gln)
n.99-1694C>A
c.243C>A (p.His81Gln)
c.25-1694C>A (n.25-1694C>A)
c.351C>A (p.His117Gln)
COSMIC
1g.8957216C>GCA338184794CA6c.339C>G (p.His113Gln)
c.159C>G (p.His53Gln)
n.99-1694C>G
c.243C>G (p.His81Gln)
c.25-1694C>G (n.25-1694C>G)
c.351C>G (p.His117Gln)
1g.8957216C>TCA415858860CA6c.339C>T (p.His113=)
c.159C>T (p.His53=)
n.99-1694C>T
c.243C>T (p.His81=)
c.25-1694C>T (n.25-1694C>T)
c.351C>T (p.His117=)
gnomAD v4
1g.8957217T>ACA338184796CA6c.340T>A (p.Trp114Arg)
c.160T>A (p.Trp54Arg)
n.99-1693T>A
c.244T>A (p.Trp82Arg)
c.25-1693T>A (n.25-1693T>A)
c.352T>A (p.Trp118Arg)
1g.8957217T>CCA338184797CA6c.340T>C (p.Trp114Arg)
c.160T>C (p.Trp54Arg)
n.99-1693T>C
c.244T>C (p.Trp82Arg)
c.25-1693T>C (n.25-1693T>C)
c.352T>C (p.Trp118Arg)
dbSNP gnomAD v4
1g.8957217T>GCA338184798CA6c.340T>G (p.Trp114Gly)
c.160T>G (p.Trp54Gly)
n.99-1693T>G
c.244T>G (p.Trp82Gly)
c.25-1693T>G (n.25-1693T>G)
c.352T>G (p.Trp118Gly)
1g.8957217T=CA1152580779CA6c.340T= (p.Trp114=)
c.160T= (p.Trp54=)
n.99-1693T=
c.244T= (p.Trp82=)
c.25-1693T= (n.25-1693T=)
c.352T= (p.Trp118=)
1g.8957218G>ACA338184799CA6c.341G>A (p.Trp114Ter)
c.161G>A (p.Trp54Ter)
n.99-1692G>A
c.245G>A (p.Trp82Ter)
c.25-1692G>A (n.25-1692G>A)
c.353G>A (p.Trp118Ter)
1g.8957218G>CCA338184800CA6c.341G>C (p.Trp114Ser)
c.161G>C (p.Trp54Ser)
n.99-1692G>C
c.245G>C (p.Trp82Ser)
c.25-1692G>C (n.25-1692G>C)
c.353G>C (p.Trp118Ser)
1g.8957218G>TCA338184801CA6c.341G>T (p.Trp114Leu)
c.161G>T (p.Trp54Leu)
n.99-1692G>T
c.245G>T (p.Trp82Leu)
c.25-1692G>T (n.25-1692G>T)
c.353G>T (p.Trp118Leu)
1g.8957219G>ACA338184802CA6c.342G>A (p.Trp114Ter)
c.162G>A (p.Trp54Ter)
n.99-1691G>A
c.246G>A (p.Trp82Ter)
c.25-1691G>A (n.25-1691G>A)
c.354G>A (p.Trp118Ter)
1g.8957219G>CCA338184803CA6c.342G>C (p.Trp114Cys)
c.162G>C (p.Trp54Cys)
n.99-1691G>C
c.246G>C (p.Trp82Cys)
c.25-1691G>C (n.25-1691G>C)
c.354G>C (p.Trp118Cys)
1g.8957219G=CA1152580782CA6c.342G= (p.Trp114=)
c.162G= (p.Trp54=)
n.99-1691G=
c.246G= (p.Trp82=)
c.25-1691G= (n.25-1691G=)
c.354G= (p.Trp118=)
1g.8957219G>TCA338184804CA6c.342G>T (p.Trp114Cys)
c.162G>T (p.Trp54Cys)
n.99-1691G>T
c.246G>T (p.Trp82Cys)
c.25-1691G>T (n.25-1691G>T)
c.354G>T (p.Trp118Cys)
dbSNP gnomAD v2 gnomAD v4
1g.8957220G>ACA338184805CA6c.343G>A (p.Gly115Arg)
c.163G>A (p.Gly55Arg)
n.99-1690G>A
c.247G>A (p.Gly83Arg)
c.25-1690G>A (n.25-1690G>A)
c.355G>A (p.Gly119Arg)
1g.8957220G>CCA338184806CA6c.343G>C (p.Gly115Arg)
c.163G>C (p.Gly55Arg)
n.99-1690G>C
c.247G>C (p.Gly83Arg)
c.25-1690G>C (n.25-1690G>C)
c.355G>C (p.Gly119Arg)
1g.8957220G>TCA338184807CA6c.343G>T (p.Gly115Ter)
c.163G>T (p.Gly55Ter)
n.99-1690G>T
c.247G>T (p.Gly83Ter)
c.25-1690G>T (n.25-1690G>T)
c.355G>T (p.Gly119Ter)
1g.8957221G>ACA338184808CA6c.344G>A (p.Gly115Glu)
c.164G>A (p.Gly55Glu)
n.99-1689G>A
c.248G>A (p.Gly83Glu)
c.25-1689G>A (n.25-1689G>A)
c.356G>A (p.Gly119Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8957221G>CCA338184810CA6c.344G>C (p.Gly115Ala)
c.164G>C (p.Gly55Ala)
n.99-1689G>C
c.248G>C (p.Gly83Ala)
c.25-1689G>C (n.25-1689G>C)
c.356G>C (p.Gly119Ala)
1g.8957221G=CA1152580785CA6c.344G= (p.Gly115=)
c.164G= (p.Gly55=)
n.99-1689G=
c.248G= (p.Gly83=)
c.25-1689G= (n.25-1689G=)
c.356G= (p.Gly119=)
1g.8957221G>TCA338184809CA6c.344G>T (p.Gly115Val)
c.164G>T (p.Gly55Val)
n.99-1689G>T
c.248G>T (p.Gly83Val)
c.25-1689G>T (n.25-1689G>T)
c.356G>T (p.Gly119Val)
1g.8957222delCA2643090651CA6c.345del (p.Gly116ValfsTer19)
c.165del (p.Gly56ValfsTer19)
n.99-1688del
c.249del (p.Gly84ValfsTer19)
c.25-1688del (n.25-1688del)
c.357del (p.Gly120ValfsTer19)
gnomAD v4
1g.8957222A>CCA415858883CA6c.345A>C (p.Gly115=)
c.165A>C (p.Gly55=)
n.99-1688A>C
c.249A>C (p.Gly83=)
c.25-1688A>C (n.25-1688A>C)
c.357A>C (p.Gly119=)
1g.8957222A>GCA415858882CA6c.345A>G (p.Gly115=)
c.165A>G (p.Gly55=)
n.99-1688A>G
c.249A>G (p.Gly83=)
c.25-1688A>G (n.25-1688A>G)
c.357A>G (p.Gly119=)
1g.8957222A>TCA415858881CA6c.345A>T (p.Gly115=)
c.165A>T (p.Gly55=)
n.99-1688A>T
c.249A>T (p.Gly83=)
c.25-1688A>T (n.25-1688A>T)
c.357A>T (p.Gly119=)
1g.8957222_8957223delinsAGCA1152580789CA6c.345_346delinsAG (p.Gly115=)
c.165_166delinsAG (p.Gly55=)
n.99-1688_99-1687delinsAG
c.249_250delinsAG (p.Gly83=)
c.25-1688_25-1687delinsAG (n.25-1688_25-1687delinsAG)
c.357_358delinsAG (p.Gly119=)
1g.8957223G>ACA338184811CA6c.346G>A (p.Gly116Ser)
c.166G>A (p.Gly56Ser)
n.99-1687G>A
c.250G>A (p.Gly84Ser)
c.25-1687G>A (n.25-1687G>A)
c.358G>A (p.Gly120Ser)
gnomAD v4
1g.8957223G>CCA338184812CA6c.346G>C (p.Gly116Arg)
c.166G>C (p.Gly56Arg)
n.99-1687G>C
c.250G>C (p.Gly84Arg)
c.25-1687G>C (n.25-1687G>C)
c.358G>C (p.Gly120Arg)
1g.8957223G>TCA338184813CA6c.346G>T (p.Gly116Cys)
c.166G>T (p.Gly56Cys)
n.99-1687G>T
c.250G>T (p.Gly84Cys)
c.25-1687G>T (n.25-1687G>T)
c.358G>T (p.Gly120Cys)
1g.8957224delCA572965CA6c.347del (p.Gly116ValfsTer19)
c.167del (p.Gly56ValfsTer19)
n.99-1686del
c.251del (p.Gly84ValfsTer19)
c.25-1686del (n.25-1686del)
c.359del (p.Gly120ValfsTer19)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8957224G>ACA338184814CA6c.347G>A (p.Gly116Asp)
c.167G>A (p.Gly56Asp)
n.99-1686G>A
c.251G>A (p.Gly84Asp)
c.25-1686G>A (n.25-1686G>A)
c.359G>A (p.Gly120Asp)
1g.8957224G>CCA338184815CA6c.347G>C (p.Gly116Ala)
c.167G>C (p.Gly56Ala)
n.99-1686G>C
c.251G>C (p.Gly84Ala)
c.25-1686G>C (n.25-1686G>C)
c.359G>C (p.Gly120Ala)
1g.8957224G=CA1152580793CA6c.347G= (p.Gly116=)
c.167G= (p.Gly56=)
n.99-1686G=
c.251G= (p.Gly84=)
c.25-1686G= (n.25-1686G=)
c.359G= (p.Gly120=)
1g.8957224G>TCA17706836CA6c.347G>T (p.Gly116Val)
c.167G>T (p.Gly56Val)
n.99-1686G>T
c.251G>T (p.Gly84Val)
c.25-1686G>T (n.25-1686G>T)
c.359G>T (p.Gly120Val)
dbSNP
1g.8957225T>ACA415858884CA6c.348T>A (p.Gly116=)
c.168T>A (p.Gly56=)
n.99-1685T>A
c.252T>A (p.Gly84=)
c.25-1685T>A (n.25-1685T>A)
c.360T>A (p.Gly120=)
1g.8957225T>CCA415858885CA6c.348T>C (p.Gly116=)
c.168T>C (p.Gly56=)
n.99-1685T>C
c.252T>C (p.Gly84=)
c.25-1685T>C (n.25-1685T>C)
c.360T>C (p.Gly120=)
dbSNP gnomAD v3 gnomAD v4
1g.8957225T>GCA415858886CA6c.348T>G (p.Gly116=)
c.168T>G (p.Gly56=)
n.99-1685T>G
c.252T>G (p.Gly84=)
c.25-1685T>G (n.25-1685T>G)
c.360T>G (p.Gly120=)
1g.8957225T=CA1152580796CA6c.348T= (p.Gly116=)
c.168T= (p.Gly56=)
n.99-1685T=
c.252T= (p.Gly84=)
c.25-1685T= (n.25-1685T=)
c.360T= (p.Gly120=)
1g.8957226G>ACA17706838CA6c.349G>A (p.Ala117Thr)
c.169G>A (p.Ala57Thr)
n.99-1684G>A
c.253G>A (p.Ala85Thr)
c.25-1684G>A (n.25-1684G>A)
c.361G>A (p.Ala121Thr)
dbSNP gnomAD v2 gnomAD v4
1g.8957226G>CCA338184816CA6c.349G>C (p.Ala117Pro)
c.169G>C (p.Ala57Pro)
n.99-1684G>C
c.253G>C (p.Ala85Pro)
c.25-1684G>C (n.25-1684G>C)
c.361G>C (p.Ala121Pro)
1g.8957226G=CA1152580800CA6c.349G= (p.Ala117=)
c.169G= (p.Ala57=)
n.99-1684G=
c.253G= (p.Ala85=)
c.25-1684G= (n.25-1684G=)
c.361G= (p.Ala121=)
1g.8957226G>TCA338184817CA6c.349G>T (p.Ala117Ser)
c.169G>T (p.Ala57Ser)
n.99-1684G>T
c.253G>T (p.Ala85Ser)
c.25-1684G>T (n.25-1684G>T)
c.361G>T (p.Ala121Ser)
1g.8957227C>ACA338184818CA6c.350C>A (p.Ala117Glu)
c.170C>A (p.Ala57Glu)
n.99-1683C>A
c.254C>A (p.Ala85Glu)
c.25-1683C>A (n.25-1683C>A)
c.362C>A (p.Ala121Glu)
1g.8957227C=CA1152580802CA6c.350C= (p.Ala117=)
c.170C= (p.Ala57=)
n.99-1683C=
c.254C= (p.Ala85=)
c.25-1683C= (n.25-1683C=)
c.362C= (p.Ala121=)
1g.8957227C>GCA338184819CA6c.350C>G (p.Ala117Gly)
c.170C>G (p.Ala57Gly)
n.99-1683C>G
c.254C>G (p.Ala85Gly)
c.25-1683C>G (n.25-1683C>G)
c.362C>G (p.Ala121Gly)
1g.8957227C>TCA572966CA6c.350C>T (p.Ala117Val)
c.170C>T (p.Ala57Val)
n.99-1683C>T
c.254C>T (p.Ala85Val)
c.25-1683C>T (n.25-1683C>T)
c.362C>T (p.Ala121Val)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.8957228G>ACA572967CA6c.351G>A (p.Ala117=)
c.171G>A (p.Ala57=)
n.99-1682G>A
c.255G>A (p.Ala85=)
c.25-1682G>A (n.25-1682G>A)
c.363G>A (p.Ala121=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8957228G>CCA415858889CA6c.351G>C (p.Ala117=)
c.171G>C (p.Ala57=)
n.99-1682G>C
c.255G>C (p.Ala85=)
c.25-1682G>C (n.25-1682G>C)
c.363G>C (p.Ala121=)
1g.8957228G=CA1143511114CA6c.351G= (p.Ala117=)
c.171G= (p.Ala57=)
n.99-1682G=
c.255G= (p.Ala85=)
c.25-1682G= (n.25-1682G=)
c.363G= (p.Ala121=)
1g.8957228G>TCA415858888CA6c.351G>T (p.Ala117=)
c.171G>T (p.Ala57=)
n.99-1682G>T
c.255G>T (p.Ala85=)
c.25-1682G>T (n.25-1682G>T)
c.363G>T (p.Ala121=)
1g.8957229T>ACA338184820CA6c.352T>A (p.Ser118Thr)
c.172T>A (p.Ser58Thr)
n.99-1681T>A
c.256T>A (p.Ser86Thr)
c.25-1681T>A (n.25-1681T>A)
c.364T>A (p.Ser122Thr)
gnomAD v4
1g.8957229T>CCA338184821CA6c.352T>C (p.Ser118Pro)
c.172T>C (p.Ser58Pro)
n.99-1681T>C
c.256T>C (p.Ser86Pro)
c.25-1681T>C (n.25-1681T>C)
c.364T>C (p.Ser122Pro)
1g.8957229T>GCA338184822CA6c.352T>G (p.Ser118Ala)
c.172T>G (p.Ser58Ala)
n.99-1681T>G
c.256T>G (p.Ser86Ala)
c.25-1681T>G (n.25-1681T>G)
c.364T>G (p.Ser122Ala)
1g.8957230C>ACA338184823CA6c.353C>A (p.Ser118Tyr)
c.173C>A (p.Ser58Tyr)
n.99-1680C>A
c.257C>A (p.Ser86Tyr)
c.25-1680C>A (n.25-1680C>A)
c.365C>A (p.Ser122Tyr)
1g.8957230C>GCA338184824CA6c.353C>G (p.Ser118Cys)
c.173C>G (p.Ser58Cys)
n.99-1680C>G
c.257C>G (p.Ser86Cys)
c.25-1680C>G (n.25-1680C>G)
c.365C>G (p.Ser122Cys)
1g.8957230C>TCA338184825CA6c.353C>T (p.Ser118Phe)
c.173C>T (p.Ser58Phe)
n.99-1680C>T
c.257C>T (p.Ser86Phe)
c.25-1680C>T (n.25-1680C>T)
c.365C>T (p.Ser122Phe)
gnomAD v4
1g.8957231C>ACA415858890CA6c.354C>A (p.Ser118=)
c.174C>A (p.Ser58=)
n.99-1679C>A
c.258C>A (p.Ser86=)
c.25-1679C>A (n.25-1679C>A)
c.366C>A (p.Ser122=)
1g.8957231C>GCA415858891CA6c.354C>G (p.Ser118=)
c.174C>G (p.Ser58=)
n.99-1679C>G
c.258C>G (p.Ser86=)
c.25-1679C>G (n.25-1679C>G)
c.366C>G (p.Ser122=)
1g.8957231C>TCA415858892CA6c.354C>T (p.Ser118=)
c.174C>T (p.Ser58=)
n.99-1679C>T
c.258C>T (p.Ser86=)
c.25-1679C>T (n.25-1679C>T)
c.366C>T (p.Ser122=)
gnomAD v4
1g.8957234_8957248dupCA2643090652CA6c.357_371dup (p.Ser124_Glu125insGluIleSerGlySer)
c.177_191dup (p.Ser64_Glu65insGluIleSerGlySer)
n.99-1676_99-1662dup
c.261_275dup (p.Ser92_Glu93insGluIleSerGlySer)
c.25-1676_25-1662dup (n.25-1676_25-1662dup)
c.369_383dup (p.Ser128_Glu129insGluIleSerGlySer)
gnomAD v4
1g.8957232T>ACA338184826CA6c.355T>A (p.Ser119Thr)
c.175T>A (p.Ser59Thr)
n.99-1678T>A
c.259T>A (p.Ser87Thr)
c.25-1678T>A (n.25-1678T>A)
c.367T>A (p.Ser123Thr)
1g.8957232T>CCA338184828CA6c.355T>C (p.Ser119Pro)
c.175T>C (p.Ser59Pro)
n.99-1678T>C
c.259T>C (p.Ser87Pro)
c.25-1678T>C (n.25-1678T>C)
c.367T>C (p.Ser123Pro)
1g.8957232T>GCA338184827CA6c.355T>G (p.Ser119Ala)
c.175T>G (p.Ser59Ala)
n.99-1678T>G
c.259T>G (p.Ser87Ala)
c.25-1678T>G (n.25-1678T>G)
c.367T>G (p.Ser123Ala)
1g.8957233C>ACA338184829CA6c.356C>A (p.Ser119Ter)
c.176C>A (p.Ser59Ter)
n.99-1677C>A
c.260C>A (p.Ser87Ter)
c.25-1677C>A (n.25-1677C>A)
c.368C>A (p.Ser123Ter)
gnomAD v4
1g.8957233C=CA1148464465CA6c.356C= (p.Ser119=)
c.176C= (p.Ser59=)
n.99-1677C=
c.260C= (p.Ser87=)
c.25-1677C= (n.25-1677C=)
c.368C= (p.Ser123=)
1g.8957233C>GCA338184830CA6c.356C>G (p.Ser119Trp)
c.176C>G (p.Ser59Trp)
n.99-1677C>G
c.260C>G (p.Ser87Trp)
c.25-1677C>G (n.25-1677C>G)
c.368C>G (p.Ser123Trp)
1g.8957233C>TCA572968CA6c.356C>T (p.Ser119Leu)
c.176C>T (p.Ser59Leu)
n.99-1677C>T
c.260C>T (p.Ser87Leu)
c.25-1677C>T (n.25-1677C>T)
c.368C>T (p.Ser123Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8957234G>ACA17706870CA6c.357G>A (p.Ser119=)
c.177G>A (p.Ser59=)
n.99-1676G>A
c.261G>A (p.Ser87=)
c.25-1676G>A (n.25-1676G>A)
c.369G>A (p.Ser123=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8957234G>CCA415858893CA6c.357G>C (p.Ser119=)
c.177G>C (p.Ser59=)
n.99-1676G>C
c.261G>C (p.Ser87=)
c.25-1676G>C (n.25-1676G>C)
c.369G>C (p.Ser123=)
1g.8957234G=CA1143812364CA6c.357G= (p.Ser119=)
c.177G= (p.Ser59=)
n.99-1676G=
c.261G= (p.Ser87=)
c.25-1676G= (n.25-1676G=)
c.369G= (p.Ser123=)
1g.8957234G>TCA572969CA6c.357G>T (p.Ser119=)
c.177G>T (p.Ser59=)
n.99-1676G>T
c.261G>T (p.Ser87=)
c.25-1676G>T (n.25-1676G>T)
c.369G>T (p.Ser123=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8957235delCA2574200175CA6c.358del (p.Glu120ArgfsTer15)
c.178del (p.Glu60ArgfsTer15)
n.99-1675del
c.262del (p.Glu88ArgfsTer15)
c.25-1675del (n.25-1675del)
c.370del (p.Glu124ArgfsTer15)
1g.8957235G>ACA338184831CA6c.358G>A (p.Glu120Lys)
c.178G>A (p.Glu60Lys)
n.99-1675G>A
c.262G>A (p.Glu88Lys)
c.25-1675G>A (n.25-1675G>A)
c.370G>A (p.Glu124Lys)
1g.8957235G>CCA338184833CA6c.358G>C (p.Glu120Gln)
c.178G>C (p.Glu60Gln)
n.99-1675G>C
c.262G>C (p.Glu88Gln)
c.25-1675G>C (n.25-1675G>C)
c.370G>C (p.Glu124Gln)
dbSNP gnomAD v2 gnomAD v4
1g.8957235G=CA1152580808CA6c.358G= (p.Glu120=)
c.178G= (p.Glu60=)
n.99-1675G=
c.262G= (p.Glu88=)
c.25-1675G= (n.25-1675G=)
c.370G= (p.Glu124=)
1g.8957235G>TCA338184832CA6c.358G>T (p.Glu120Ter)
c.178G>T (p.Glu60Ter)
n.99-1675G>T
c.262G>T (p.Glu88Ter)
c.25-1675G>T (n.25-1675G>T)
c.370G>T (p.Glu124Ter)
1g.8957236A>CCA338184834CA6c.359A>C (p.Glu120Ala)
c.179A>C (p.Glu60Ala)
n.99-1674A>C
c.263A>C (p.Glu88Ala)
c.25-1674A>C (n.25-1674A>C)
c.371A>C (p.Glu124Ala)
1g.8957236A>GCA338184835CA6c.359A>G (p.Glu120Gly)
c.179A>G (p.Glu60Gly)
n.99-1674A>G
c.263A>G (p.Glu88Gly)
c.25-1674A>G (n.25-1674A>G)
c.371A>G (p.Glu124Gly)
1g.8957236A>TCA338184836CA6c.359A>T (p.Glu120Val)
c.179A>T (p.Glu60Val)
n.99-1674A>T
c.263A>T (p.Glu88Val)
c.25-1674A>T (n.25-1674A>T)
c.371A>T (p.Glu124Val)
1g.8957237G>ACA415858895CA6c.360G>A (p.Glu120=)
c.180G>A (p.Glu60=)
n.99-1673G>A
c.264G>A (p.Glu88=)
c.25-1673G>A (n.25-1673G>A)
c.372G>A (p.Glu124=)
1g.8957237G>CCA338184837CA6c.360G>C (p.Glu120Asp)
c.180G>C (p.Glu60Asp)
n.99-1673G>C
c.264G>C (p.Glu88Asp)
c.25-1673G>C (n.25-1673G>C)
c.372G>C (p.Glu124Asp)
dbSNP gnomAD v4
1g.8957237G>TCA338184838CA6c.360G>T (p.Glu120Asp)
c.180G>T (p.Glu60Asp)
n.99-1673G>T
c.264G>T (p.Glu88Asp)
c.25-1673G>T (n.25-1673G>T)
c.372G>T (p.Glu124Asp)
1g.8957238A>CCA338184839CA6c.361A>C (p.Ile121Leu)
c.181A>C (p.Ile61Leu)
n.99-1672A>C
c.265A>C (p.Ile89Leu)
c.25-1672A>C (n.25-1672A>C)
c.373A>C (p.Ile125Leu)
1g.8957238A>GCA338184840CA6c.361A>G (p.Ile121Val)
c.181A>G (p.Ile61Val)
n.99-1672A>G
c.265A>G (p.Ile89Val)
c.25-1672A>G (n.25-1672A>G)
c.373A>G (p.Ile125Val)
gnomAD v4
1g.8957238A>TCA338184841CA6c.361A>T (p.Ile121Phe)
c.181A>T (p.Ile61Phe)
n.99-1672A>T
c.265A>T (p.Ile89Phe)
c.25-1672A>T (n.25-1672A>T)
c.373A>T (p.Ile125Phe)
1g.8957239T>ACA338184842CA6c.362T>A (p.Ile121Asn)
c.182T>A (p.Ile61Asn)
n.99-1671T>A
c.266T>A (p.Ile89Asn)
c.25-1671T>A (n.25-1671T>A)
c.374T>A (p.Ile125Asn)
1g.8957239T>CCA338184843CA6c.362T>C (p.Ile121Thr)
c.182T>C (p.Ile61Thr)
n.99-1671T>C
c.266T>C (p.Ile89Thr)
c.25-1671T>C (n.25-1671T>C)
c.374T>C (p.Ile125Thr)
1g.8957239T>GCA338184844CA6c.362T>G (p.Ile121Ser)
c.182T>G (p.Ile61Ser)
n.99-1671T>G
c.266T>G (p.Ile89Ser)
c.25-1671T>G (n.25-1671T>G)
c.374T>G (p.Ile125Ser)
1g.8957240C>ACA415858897CA6c.363C>A (p.Ile121=)
c.183C>A (p.Ile61=)
n.99-1670C>A
c.267C>A (p.Ile89=)
c.25-1670C>A (n.25-1670C>A)
c.375C>A (p.Ile125=)
1g.8957240C>GCA338184845CA6c.363C>G (p.Ile121Met)
c.183C>G (p.Ile61Met)
n.99-1670C>G
c.267C>G (p.Ile89Met)
c.25-1670C>G (n.25-1670C>G)
c.375C>G (p.Ile125Met)
1g.8957240C>TCA415858899CA6c.363C>T (p.Ile121=)
c.183C>T (p.Ile61=)
n.99-1670C>T
c.267C>T (p.Ile89=)
c.25-1670C>T (n.25-1670C>T)
c.375C>T (p.Ile125=)
1g.8957241A>CCA338184847CA6c.364A>C (p.Ser122Arg)
c.184A>C (p.Ser62Arg)
n.99-1669A>C
c.268A>C (p.Ser90Arg)
c.25-1669A>C (n.25-1669A>C)
c.376A>C (p.Ser126Arg)
1g.8957241A>GCA338184848CA6c.364A>G (p.Ser122Gly)
c.184A>G (p.Ser62Gly)
n.99-1669A>G
c.268A>G (p.Ser90Gly)
c.25-1669A>G (n.25-1669A>G)
c.376A>G (p.Ser126Gly)
1g.8957241A>TCA338184846CA6c.364A>T (p.Ser122Cys)
c.184A>T (p.Ser62Cys)
n.99-1669A>T
c.268A>T (p.Ser90Cys)
c.25-1669A>T (n.25-1669A>T)
c.376A>T (p.Ser126Cys)
1g.8957242G>ACA338184850CA6c.365G>A (p.Ser122Asn)
c.185G>A (p.Ser62Asn)
n.99-1668G>A
c.269G>A (p.Ser90Asn)
c.25-1668G>A (n.25-1668G>A)
c.377G>A (p.Ser126Asn)
1g.8957242G>CCA338184849CA6c.365G>C (p.Ser122Thr)
c.185G>C (p.Ser62Thr)
n.99-1668G>C
c.269G>C (p.Ser90Thr)
c.25-1668G>C (n.25-1668G>C)
c.377G>C (p.Ser126Thr)
1g.8957242G>TCA338184851CA6c.365G>T (p.Ser122Ile)
c.185G>T (p.Ser62Ile)
n.99-1668G>T
c.269G>T (p.Ser90Ile)
c.25-1668G>T (n.25-1668G>T)
c.377G>T (p.Ser126Ile)
1g.8957243C>ACA338184852CA6c.366C>A (p.Ser122Arg)
c.186C>A (p.Ser62Arg)
n.99-1667C>A
c.270C>A (p.Ser90Arg)
c.25-1667C>A (n.25-1667C>A)
c.378C>A (p.Ser126Arg)
1g.8957243C=CA1152580810CA6c.366C= (p.Ser122=)
c.186C= (p.Ser62=)
n.99-1667C=
c.270C= (p.Ser90=)
c.25-1667C= (n.25-1667C=)
c.378C= (p.Ser126=)
1g.8957243C>GCA338184853CA6c.366C>G (p.Ser122Arg)
c.186C>G (p.Ser62Arg)
n.99-1667C>G
c.270C>G (p.Ser90Arg)
c.25-1667C>G (n.25-1667C>G)
c.378C>G (p.Ser126Arg)
1g.8957243C>TCA415858900CA6c.366C>T (p.Ser122=)
c.186C>T (p.Ser62=)
n.99-1667C>T
c.270C>T (p.Ser90=)
c.25-1667C>T (n.25-1667C>T)
c.378C>T (p.Ser126=)
dbSNP gnomAD v3 gnomAD v4
1g.8957244G>ACA572970CA6c.367G>A (p.Gly123Ser)
c.187G>A (p.Gly63Ser)
n.99-1666G>A
c.271G>A (p.Gly91Ser)
c.25-1666G>A (n.25-1666G>A)
c.379G>A (p.Gly127Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.8957244G>CCA338184854CA6c.367G>C (p.Gly123Arg)
c.187G>C (p.Gly63Arg)
n.99-1666G>C
c.271G>C (p.Gly91Arg)
c.25-1666G>C (n.25-1666G>C)
c.379G>C (p.Gly127Arg)
1g.8957244G=CA1152580814CA6c.367G= (p.Gly123=)
c.187G= (p.Gly63=)
n.99-1666G=
c.271G= (p.Gly91=)
c.25-1666G= (n.25-1666G=)
c.379G= (p.Gly127=)
1g.8957244G>TCA338184855CA6c.367G>T (p.Gly123Cys)
c.187G>T (p.Gly63Cys)
n.99-1666G>T
c.271G>T (p.Gly91Cys)
c.25-1666G>T (n.25-1666G>T)
c.379G>T (p.Gly127Cys)
1g.8957245G>ACA338184856CA6c.368G>A (p.Gly123Asp)
c.188G>A (p.Gly63Asp)
n.99-1665G>A
c.272G>A (p.Gly91Asp)
c.25-1665G>A (n.25-1665G>A)
c.380G>A (p.Gly127Asp)
1g.8957245G>CCA338184857CA6c.368G>C (p.Gly123Ala)
c.188G>C (p.Gly63Ala)
n.99-1665G>C
c.272G>C (p.Gly91Ala)
c.25-1665G>C (n.25-1665G>C)
c.380G>C (p.Gly127Ala)
1g.8957245G>TCA338184858CA6c.368G>T (p.Gly123Val)
c.188G>T (p.Gly63Val)
n.99-1665G>T
c.272G>T (p.Gly91Val)
c.25-1665G>T (n.25-1665G>T)
c.380G>T (p.Gly127Val)
1g.8957246C>ACA415858901CA6c.369C>A (p.Gly123=)
c.189C>A (p.Gly63=)
n.99-1664C>A
c.273C>A (p.Gly91=)
c.25-1664C>A (n.25-1664C>A)
c.381C>A (p.Gly127=)
1g.8957246C=CA1142912230CA6c.369C= (p.Gly123=)
c.189C= (p.Gly63=)
n.99-1664C=
c.273C= (p.Gly91=)
c.25-1664C= (n.25-1664C=)
c.381C= (p.Gly127=)
1g.8957246C>GCA415858902CA6c.369C>G (p.Gly123=)
c.189C>G (p.Gly63=)
n.99-1664C>G
c.273C>G (p.Gly91=)
c.25-1664C>G (n.25-1664C>G)
c.381C>G (p.Gly127=)
1g.8957246C>TCA572971CA6c.369C>T (p.Gly123=)
c.189C>T (p.Gly63=)
n.99-1664C>T
c.273C>T (p.Gly91=)
c.25-1664C>T (n.25-1664C>T)
c.381C>T (p.Gly127=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8957247T>ACA338184859CA6c.370T>A (p.Ser124Thr)
c.190T>A (p.Ser64Thr)
n.99-1663T>A
c.274T>A (p.Ser92Thr)
c.25-1663T>A (n.25-1663T>A)
c.382T>A (p.Ser128Thr)
1g.8957247T>CCA338184860CA6c.370T>C (p.Ser124Pro)
c.190T>C (p.Ser64Pro)
n.99-1663T>C
c.274T>C (p.Ser92Pro)
c.25-1663T>C (n.25-1663T>C)
c.382T>C (p.Ser128Pro)
1g.8957247T>GCA338184861CA6c.370T>G (p.Ser124Ala)
c.190T>G (p.Ser64Ala)
n.99-1663T>G
c.274T>G (p.Ser92Ala)
c.25-1663T>G (n.25-1663T>G)
c.382T>G (p.Ser128Ala)
1g.8957248C>ACA338184864CA6c.371C>A (p.Ser124Tyr)
c.191C>A (p.Ser64Tyr)
n.99-1662C>A
c.275C>A (p.Ser92Tyr)
c.25-1662C>A (n.25-1662C>A)
c.383C>A (p.Ser128Tyr)
1g.8957248C>GCA338184862CA6c.371C>G (p.Ser124Cys)
c.191C>G (p.Ser64Cys)
n.99-1662C>G
c.275C>G (p.Ser92Cys)
c.25-1662C>G (n.25-1662C>G)
c.383C>G (p.Ser128Cys)
1g.8957248C>TCA338184863CA6c.371C>T (p.Ser124Phe)
c.191C>T (p.Ser64Phe)
n.99-1662C>T
c.275C>T (p.Ser92Phe)
c.25-1662C>T (n.25-1662C>T)
c.383C>T (p.Ser128Phe)
1g.8957249T>ACA415858903CA6c.372T>A (p.Ser124=)
c.192T>A (p.Ser64=)
n.99-1661T>A
c.276T>A (p.Ser92=)
c.25-1661T>A (n.25-1661T>A)
c.384T>A (p.Ser128=)
1g.8957249T>CCA415858905CA6c.372T>C (p.Ser124=)
c.192T>C (p.Ser64=)
n.99-1661T>C
c.276T>C (p.Ser92=)
c.25-1661T>C (n.25-1661T>C)
c.384T>C (p.Ser128=)
1g.8957249T>GCA415858904CA6c.372T>G (p.Ser124=)
c.192T>G (p.Ser64=)
n.99-1661T>G
c.276T>G (p.Ser92=)
c.25-1661T>G (n.25-1661T>G)
c.384T>G (p.Ser128=)
1g.8957250G>ACA338184865CA6c.373G>A (p.Glu125Lys)
c.193G>A (p.Glu65Lys)
n.99-1660G>A
c.277G>A (p.Glu93Lys)
c.25-1660G>A (n.25-1660G>A)
c.385G>A (p.Glu129Lys)
dbSNP
1g.8957250G>CCA338184866CA6c.373G>C (p.Glu125Gln)
c.193G>C (p.Glu65Gln)
n.99-1660G>C
c.277G>C (p.Glu93Gln)
c.25-1660G>C (n.25-1660G>C)
c.385G>C (p.Glu129Gln)
dbSNP gnomAD v2 gnomAD v4
1g.8957250G=CA1152580817CA6c.373G= (p.Glu125=)
c.193G= (p.Glu65=)
n.99-1660G=
c.277G= (p.Glu93=)
c.25-1660G= (n.25-1660G=)
c.385G= (p.Glu129=)
1g.8957250G>TCA338184867CA6c.373G>T (p.Glu125Ter)
c.193G>T (p.Glu65Ter)
n.99-1660G>T
c.277G>T (p.Glu93Ter)
c.25-1660G>T (n.25-1660G>T)
c.385G>T (p.Glu129Ter)
1g.8957251A>CCA338184868CA6c.374A>C (p.Glu125Ala)
c.194A>C (p.Glu65Ala)
n.99-1659A>C
c.278A>C (p.Glu93Ala)
c.25-1659A>C (n.25-1659A>C)
c.386A>C (p.Glu129Ala)
1g.8957251A>GCA338184869CA6c.374A>G (p.Glu125Gly)
c.194A>G (p.Glu65Gly)
n.99-1659A>G
c.278A>G (p.Glu93Gly)
c.25-1659A>G (n.25-1659A>G)
c.386A>G (p.Glu129Gly)
1g.8957251A>TCA338184870CA6c.374A>T (p.Glu125Val)
c.194A>T (p.Glu65Val)
n.99-1659A>T
c.278A>T (p.Glu93Val)
c.25-1659A>T (n.25-1659A>T)
c.386A>T (p.Glu129Val)
1g.8957252G>ACA415858906CA6c.375G>A (p.Glu125=)
c.195G>A (p.Glu65=)
n.99-1658G>A
c.279G>A (p.Glu93=)
c.25-1658G>A (n.25-1658G>A)
c.387G>A (p.Glu129=)
gnomAD v4
1g.8957252G>CCA338184871CA6c.375G>C (p.Glu125Asp)
c.195G>C (p.Glu65Asp)
n.99-1658G>C
c.279G>C (p.Glu93Asp)
c.25-1658G>C (n.25-1658G>C)
c.387G>C (p.Glu129Asp)
1g.8957252G>TCA338184872CA6c.375G>T (p.Glu125Asp)
c.195G>T (p.Glu65Asp)
n.99-1658G>T
c.279G>T (p.Glu93Asp)
c.25-1658G>T (n.25-1658G>T)
c.387G>T (p.Glu129Asp)
1g.8957253C>ACA338184873CA6c.376C>A (p.His126Asn)
c.196C>A (p.His66Asn)
n.99-1657C>A
c.280C>A (p.His94Asn)
c.25-1657C>A (n.25-1657C>A)
c.388C>A (p.His130Asn)
1g.8957253C>GCA338184874CA6c.376C>G (p.His126Asp)
c.196C>G (p.His66Asp)
n.99-1657C>G
c.280C>G (p.His94Asp)
c.25-1657C>G (n.25-1657C>G)
c.388C>G (p.His130Asp)
gnomAD v4
1g.8957253C>TCA338184875CA6c.376C>T (p.His126Tyr)
c.196C>T (p.His66Tyr)
n.99-1657C>T
c.280C>T (p.His94Tyr)
c.25-1657C>T (n.25-1657C>T)
c.388C>T (p.His130Tyr)
gnomAD v4
1g.8957254A>CCA338184878CA6c.377A>C (p.His126Pro)
c.197A>C (p.His66Pro)
n.99-1656A>C
c.281A>C (p.His94Pro)
c.25-1656A>C (n.25-1656A>C)
c.389A>C (p.His130Pro)
gnomAD v4
1g.8957254A>GCA338184877CA6c.377A>G (p.His126Arg)
c.197A>G (p.His66Arg)
n.99-1656A>G
c.281A>G (p.His94Arg)
c.25-1656A>G (n.25-1656A>G)
c.389A>G (p.His130Arg)
1g.8957254A>TCA338184876CA6c.377A>T (p.His126Leu)
c.197A>T (p.His66Leu)
n.99-1656A>T
c.281A>T (p.His94Leu)
c.25-1656A>T (n.25-1656A>T)
c.389A>T (p.His130Leu)
gnomAD v4
1g.8957255C>ACA338184879CA6c.378C>A (p.His126Gln)
c.198C>A (p.His66Gln)
n.99-1655C>A
c.282C>A (p.His94Gln)
c.25-1655C>A (n.25-1655C>A)
c.390C>A (p.His130Gln)
dbSNP gnomAD v3 gnomAD v4
1g.8957255C=CA1152580820CA6c.378C= (p.His126=)
c.198C= (p.His66=)
n.99-1655C=
c.282C= (p.His94=)
c.25-1655C= (n.25-1655C=)
c.390C= (p.His130=)
1g.8957255C>GCA338184880CA6c.378C>G (p.His126Gln)
c.198C>G (p.His66Gln)
n.99-1655C>G
c.282C>G (p.His94Gln)
c.25-1655C>G (n.25-1655C>G)
c.390C>G (p.His130Gln)
1g.8957255C>TCA415858907CA6c.378C>T (p.His126=)
c.198C>T (p.His66=)
n.99-1655C>T
c.282C>T (p.His94=)
c.25-1655C>T (n.25-1655C>T)
c.390C>T (p.His130=)
dbSNP gnomAD v2 gnomAD v4
1g.8957256A>CCA338184881CA6c.379A>C (p.Thr127Pro)
c.199A>C (p.Thr67Pro)
n.99-1654A>C
c.283A>C (p.Thr95Pro)
c.25-1654A>C (n.25-1654A>C)
c.391A>C (p.Thr131Pro)
1g.8957256A>GCA338184882CA6c.379A>G (p.Thr127Ala)
c.199A>G (p.Thr67Ala)
n.99-1654A>G
c.283A>G (p.Thr95Ala)
c.25-1654A>G (n.25-1654A>G)
c.391A>G (p.Thr131Ala)
1g.8957256A>TCA338184883CA6c.379A>T (p.Thr127Ser)
c.199A>T (p.Thr67Ser)
n.99-1654A>T
c.283A>T (p.Thr95Ser)
c.25-1654A>T (n.25-1654A>T)
c.391A>T (p.Thr131Ser)
1g.8957257C>ACA338184884CA6c.380C>A (p.Thr127Asn)
c.200C>A (p.Thr67Asn)
n.99-1653C>A
c.284C>A (p.Thr95Asn)
c.25-1653C>A (n.25-1653C>A)
c.392C>A (p.Thr131Asn)
1g.8957257C>GCA338184885CA6c.380C>G (p.Thr127Ser)
c.200C>G (p.Thr67Ser)
n.99-1653C>G
c.284C>G (p.Thr95Ser)
c.25-1653C>G (n.25-1653C>G)
c.392C>G (p.Thr131Ser)
1g.8957257C>TCA338184886CA6c.380C>T (p.Thr127Ile)
c.200C>T (p.Thr67Ile)
n.99-1653C>T
c.284C>T (p.Thr95Ile)
c.25-1653C>T (n.25-1653C>T)
c.392C>T (p.Thr131Ile)
1g.8957258C>ACA415858908CA6c.381C>A (p.Thr127=)
c.201C>A (p.Thr67=)
n.99-1652C>A
c.285C>A (p.Thr95=)
c.25-1652C>A (n.25-1652C>A)
c.393C>A (p.Thr131=)
1g.8957258C=CA1143444035CA6c.381C= (p.Thr127=)
c.201C= (p.Thr67=)
n.99-1652C=
c.285C= (p.Thr95=)
c.25-1652C= (n.25-1652C=)
c.393C= (p.Thr131=)
1g.8957258C>GCA415858909CA6c.381C>G (p.Thr127=)
c.201C>G (p.Thr67=)
n.99-1652C>G
c.285C>G (p.Thr95=)
c.25-1652C>G (n.25-1652C>G)
c.393C>G (p.Thr131=)
gnomAD v4
1g.8957258C>TCA572972CA6c.381C>T (p.Thr127=)
c.201C>T (p.Thr67=)
n.99-1652C>T
c.285C>T (p.Thr95=)
c.25-1652C>T (n.25-1652C>T)
c.393C>T (p.Thr131=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8957259G>ACA17706892CA6c.382G>A (p.Val128Met)
c.202G>A (p.Val68Met)
n.99-1651G>A
c.286G>A (p.Val96Met)
c.25-1651G>A (n.25-1651G>A)
c.394G>A (p.Val132Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8957259G>CCA338184887CA6c.382G>C (p.Val128Leu)
c.202G>C (p.Val68Leu)
n.99-1651G>C
c.286G>C (p.Val96Leu)
c.25-1651G>C (n.25-1651G>C)
c.394G>C (p.Val132Leu)
1g.8957259G=CA1152580825CA6c.382G= (p.Val128=)
c.202G= (p.Val68=)
n.99-1651G=
c.286G= (p.Val96=)
c.25-1651G= (n.25-1651G=)
c.394G= (p.Val132=)
1g.8957259G>TCA338184888CA6c.382G>T (p.Val128Leu)
c.202G>T (p.Val68Leu)
n.99-1651G>T
c.286G>T (p.Val96Leu)
c.25-1651G>T (n.25-1651G>T)
c.394G>T (p.Val132Leu)
1g.8957260T>ACA338184891CA6c.383T>A (p.Val128Glu)
c.203T>A (p.Val68Glu)
n.99-1650T>A
c.287T>A (p.Val96Glu)
c.25-1650T>A (n.25-1650T>A)
c.395T>A (p.Val132Glu)
1g.8957260T>CCA338184889CA6c.383T>C (p.Val128Ala)
c.203T>C (p.Val68Ala)
n.99-1650T>C
c.287T>C (p.Val96Ala)
c.25-1650T>C (n.25-1650T>C)
c.395T>C (p.Val132Ala)
gnomAD v4
1g.8957260T>GCA338184890CA6c.383T>G (p.Val128Gly)
c.203T>G (p.Val68Gly)
n.99-1650T>G
c.287T>G (p.Val96Gly)
c.25-1650T>G (n.25-1650T>G)
c.395T>G (p.Val132Gly)
1g.8957261G>ACA415858910CA6c.384G>A (p.Val128=)
c.204G>A (p.Val68=)
n.99-1649G>A
c.288G>A (p.Val96=)
c.25-1649G>A (n.25-1649G>A)
c.396G>A (p.Val132=)
1g.8957261G>CCA415858911CA6c.384G>C (p.Val128=)
c.204G>C (p.Val68=)
n.99-1649G>C
c.288G>C (p.Val96=)
c.25-1649G>C (n.25-1649G>C)
c.396G>C (p.Val132=)
gnomAD v4
1g.8957261G=CA1152580828CA6c.384G= (p.Val128=)
c.204G= (p.Val68=)
n.99-1649G=
c.288G= (p.Val96=)
c.25-1649G= (n.25-1649G=)
c.396G= (p.Val132=)
1g.8957261G>TCA415858912CA6c.384G>T (p.Val128=)
c.204G>T (p.Val68=)
n.99-1649G>T
c.288G>T (p.Val96=)
c.25-1649G>T (n.25-1649G>T)
c.396G>T (p.Val132=)
dbSNP gnomAD v3 gnomAD v4
1g.8957262G>ACA338184892CA6c.385G>A (p.Asp129Asn)
c.205G>A (p.Asp69Asn)
n.99-1648G>A
c.289G>A (p.Asp97Asn)
c.25-1648G>A (n.25-1648G>A)
c.397G>A (p.Asp133Asn)
COSMIC
1g.8957262G>CCA338184893CA6c.385G>C (p.Asp129His)
c.205G>C (p.Asp69His)
n.99-1648G>C
c.289G>C (p.Asp97His)
c.25-1648G>C (n.25-1648G>C)
c.397G>C (p.Asp133His)
1g.8957262G>TCA338184894CA6c.385G>T (p.Asp129Tyr)
c.205G>T (p.Asp69Tyr)
n.99-1648G>T
c.289G>T (p.Asp97Tyr)
c.25-1648G>T (n.25-1648G>T)
c.397G>T (p.Asp133Tyr)
gnomAD v4
1g.8957263A=CA1152580831CA6c.386A= (p.Asp129=)
c.206A= (p.Asp69=)
n.99-1647A=
c.290A= (p.Asp97=)
c.25-1647A= (n.25-1647A=)
c.398A= (p.Asp133=)
1g.8957263A>CCA338184895CA6c.386A>C (p.Asp129Ala)
c.206A>C (p.Asp69Ala)
n.99-1647A>C
c.290A>C (p.Asp97Ala)
c.25-1647A>C (n.25-1647A>C)
c.398A>C (p.Asp133Ala)
1g.8957263A>GCA338184896CA6c.386A>G (p.Asp129Gly)
c.206A>G (p.Asp69Gly)
n.99-1647A>G
c.290A>G (p.Asp97Gly)
c.25-1647A>G (n.25-1647A>G)
c.398A>G (p.Asp133Gly)
gnomAD v4
1g.8957263A>TCA572973CA6c.386A>T (p.Asp129Val)
c.206A>T (p.Asp69Val)
n.99-1647A>T
c.290A>T (p.Asp97Val)
c.25-1647A>T (n.25-1647A>T)
c.398A>T (p.Asp133Val)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.8957264C>ACA338184897CA6c.387C>A (p.Asp129Glu)
c.207C>A (p.Asp69Glu)
n.99-1646C>A
c.291C>A (p.Asp97Glu)
c.25-1646C>A (n.25-1646C>A)
c.399C>A (p.Asp133Glu)
COSMIC
1g.8957264C=CA1142097734CA6c.387C= (p.Asp129=)
c.207C= (p.Asp69=)
n.99-1646C=
c.291C= (p.Asp97=)
c.25-1646C= (n.25-1646C=)
c.399C= (p.Asp133=)
1g.8957264C>GCA338184898CA6c.387C>G (p.Asp129Glu)
c.207C>G (p.Asp69Glu)
n.99-1646C>G
c.291C>G (p.Asp97Glu)
c.25-1646C>G (n.25-1646C>G)
c.399C>G (p.Asp133Glu)
1g.8957264C>TCA572974CA6c.387C>T (p.Asp129=)
c.207C>T (p.Asp69=)
n.99-1646C>T
c.291C>T (p.Asp97=)
c.25-1646C>T (n.25-1646C>T)
c.399C>T (p.Asp133=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8957265G>ACA572975CA6c.388G>A (p.Gly130Arg)
c.208G>A (p.Gly70Arg)
n.99-1645G>A
c.292G>A (p.Gly98Arg)
c.25-1645G>A (n.25-1645G>A)
c.400G>A (p.Gly134Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.8957265G>CCA338184899CA6c.388G>C (p.Gly130Arg)
c.208G>C (p.Gly70Arg)
n.99-1645G>C
c.292G>C (p.Gly98Arg)
c.25-1645G>C (n.25-1645G>C)
c.400G>C (p.Gly134Arg)
1g.8957265G=CA1146417239CA6c.388G= (p.Gly130=)
c.208G= (p.Gly70=)
n.99-1645G=
c.292G= (p.Gly98=)
c.25-1645G= (n.25-1645G=)
c.400G= (p.Gly134=)
1g.8957265G>TCA338184900CA6c.388G>T (p.Gly130Trp)
c.208G>T (p.Gly70Trp)
n.99-1645G>T
c.292G>T (p.Gly98Trp)
c.25-1645G>T (n.25-1645G>T)
c.400G>T (p.Gly134Trp)
1g.8957266G>ACA338184901CA6c.389G>A (p.Gly130Glu)
c.209G>A (p.Gly70Glu)
n.99-1644G>A
c.293G>A (p.Gly98Glu)
c.25-1644G>A (n.25-1644G>A)
c.401G>A (p.Gly134Glu)
COSMIC
1g.8957266G>CCA338184902CA6c.389G>C (p.Gly130Ala)
c.209G>C (p.Gly70Ala)
n.99-1644G>C
c.293G>C (p.Gly98Ala)
c.25-1644G>C (n.25-1644G>C)
c.401G>C (p.Gly134Ala)
1g.8957266G=CA1152580834CA6c.389G= (p.Gly130=)
c.209G= (p.Gly70=)
n.99-1644G=
c.293G= (p.Gly98=)
c.25-1644G= (n.25-1644G=)
c.401G= (p.Gly134=)
1g.8957266G>TCA572976CA6c.389G>T (p.Gly130Val)
c.209G>T (p.Gly70Val)
n.99-1644G>T
c.293G>T (p.Gly98Val)
c.25-1644G>T (n.25-1644G>T)
c.401G>T (p.Gly134Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8957267G>ACA415858913CA6c.390G>A (p.Gly130=)
c.210G>A (p.Gly70=)
n.99-1643G>A
c.294G>A (p.Gly98=)
c.25-1643G>A (n.25-1643G>A)
c.402G>A (p.Gly134=)
COSMIC
1g.8957267G>CCA415858914CA6c.390G>C (p.Gly130=)
c.210G>C (p.Gly70=)
n.99-1643G>C
c.294G>C (p.Gly98=)
c.25-1643G>C (n.25-1643G>C)
c.402G>C (p.Gly134=)
1g.8957267G>TCA415858915CA6c.390G>T (p.Gly130=)
c.210G>T (p.Gly70=)
n.99-1643G>T
c.294G>T (p.Gly98=)
c.25-1643G>T (n.25-1643G>T)
c.402G>T (p.Gly134=)
COSMIC
1g.8957268A=CA1144009013CA6c.391A= (p.Ile131=)
c.211A= (p.Ile71=)
n.99-1642A=
c.295A= (p.Ile99=)
c.25-1642A= (n.25-1642A=)
c.403A= (p.Ile135=)
1g.8957268A>CCA338184904CA6c.391A>C (p.Ile131Leu)
c.211A>C (p.Ile71Leu)
n.99-1642A>C
c.295A>C (p.Ile99Leu)
c.25-1642A>C (n.25-1642A>C)
c.403A>C (p.Ile135Leu)
1g.8957268A>GCA338184903CA6c.391A>G (p.Ile131Val)
c.211A>G (p.Ile71Val)
n.99-1642A>G
c.295A>G (p.Ile99Val)
c.25-1642A>G (n.25-1642A>G)
c.403A>G (p.Ile135Val)
1g.8957268A>TCA572977CA6c.391A>T (p.Ile131Phe)
c.211A>T (p.Ile71Phe)
n.99-1642A>T
c.295A>T (p.Ile99Phe)
c.25-1642A>T (n.25-1642A>T)
c.403A>T (p.Ile135Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8957269T>ACA338184905CA6c.392T>A (p.Ile131Asn)
c.212T>A (p.Ile71Asn)
n.99-1641T>A
c.296T>A (p.Ile99Asn)
c.25-1641T>A (n.25-1641T>A)
c.404T>A (p.Ile135Asn)
1g.8957269T>CCA338184906CA6c.392T>C (p.Ile131Thr)
c.212T>C (p.Ile71Thr)
n.99-1641T>C
c.296T>C (p.Ile99Thr)
c.25-1641T>C (n.25-1641T>C)
c.404T>C (p.Ile135Thr)
dbSNP gnomAD v3 gnomAD v4
1g.8957269T>GCA338184907CA6c.392T>G (p.Ile131Ser)
c.212T>G (p.Ile71Ser)
n.99-1641T>G
c.296T>G (p.Ile99Ser)
c.25-1641T>G (n.25-1641T>G)
c.404T>G (p.Ile135Ser)
1g.8957269T=CA1152580835CA6c.392T= (p.Ile131=)
c.212T= (p.Ile71=)
n.99-1641T=
c.296T= (p.Ile99=)
c.25-1641T= (n.25-1641T=)
c.404T= (p.Ile135=)
1g.8957270C>ACA415858916CA6c.393C>A (p.Ile131=)
c.213C>A (p.Ile71=)
n.99-1640C>A
c.297C>A (p.Ile99=)
c.25-1640C>A (n.25-1640C>A)
c.405C>A (p.Ile135=)
1g.8957270C=CA1152580837CA6c.393C= (p.Ile131=)
c.213C= (p.Ile71=)
n.99-1640C=
c.297C= (p.Ile99=)
c.25-1640C= (n.25-1640C=)
c.405C= (p.Ile135=)
1g.8957270C>GCA338184908CA6c.393C>G (p.Ile131Met)
c.213C>G (p.Ile71Met)
n.99-1640C>G
c.297C>G (p.Ile99Met)
c.25-1640C>G (n.25-1640C>G)
c.405C>G (p.Ile135Met)
1g.8957270C>TCA17706995CA6c.393C>T (p.Ile131=)
c.213C>T (p.Ile71=)
n.99-1640C>T
c.297C>T (p.Ile99=)
c.25-1640C>T (n.25-1640C>T)
c.405C>T (p.Ile135=)
dbSNP gnomAD v4
1g.8957271A>CCA415858917CA6c.394A>C (p.Arg132=)
c.214A>C (p.Arg72=)
n.99-1639A>C
c.298A>C (p.Arg100=)
c.25-1639A>C (n.25-1639A>C)
c.406A>C (p.Arg136=)
dbSNP
1g.8957271A>GCA338184909CA6c.394A>G (p.Arg132Gly)
c.214A>G (p.Arg72Gly)
n.99-1639A>G
c.298A>G (p.Arg100Gly)
c.25-1639A>G (n.25-1639A>G)
c.406A>G (p.Arg136Gly)
1g.8957271A>TCA338184910CA6c.394A>T (p.Arg132Ter)
c.214A>T (p.Arg72Ter)
n.99-1639A>T
c.298A>T (p.Arg100Ter)
c.25-1639A>T (n.25-1639A>T)
c.406A>T (p.Arg136Ter)
1g.8957272G>ACA338184911CA6c.395G>A (p.Arg132Lys)
c.215G>A (p.Arg72Lys)
n.99-1638G>A
c.299G>A (p.Arg100Lys)
c.25-1638G>A (n.25-1638G>A)
c.407G>A (p.Arg136Lys)
dbSNP gnomAD v2 gnomAD v4
1g.8957272G>CCA338184912CA6c.395G>C (p.Arg132Thr)
c.215G>C (p.Arg72Thr)
n.99-1638G>C
c.299G>C (p.Arg100Thr)
c.25-1638G>C (n.25-1638G>C)
c.407G>C (p.Arg136Thr)
COSMIC
1g.8957272G=CA1152580842CA6c.395G= (p.Arg132=)
c.215G= (p.Arg72=)
n.99-1638G=
c.299G= (p.Arg100=)
c.25-1638G= (n.25-1638G=)
c.407G= (p.Arg136=)
1g.8957272G>TCA338184913CA6c.395G>T (p.Arg132Ile)
c.215G>T (p.Arg72Ile)
n.99-1638G>T
c.299G>T (p.Arg100Ile)
c.25-1638G>T (n.25-1638G>T)
c.407G>T (p.Arg136Ile)
1g.8957273A>CCA338184914CA6c.396A>C (p.Arg132Ser)
c.216A>C (p.Arg72Ser)
n.99-1637A>C
c.300A>C (p.Arg100Ser)
c.25-1637A>C (n.25-1637A>C)
c.408A>C (p.Arg136Ser)
1g.8957273A>GCA415858918CA6c.396A>G (p.Arg132=)
c.216A>G (p.Arg72=)
n.99-1637A>G
c.300A>G (p.Arg100=)
c.25-1637A>G (n.25-1637A>G)
c.408A>G (p.Arg136=)
1g.8957273A>TCA338184915CA6c.396A>T (p.Arg132Ser)
c.216A>T (p.Arg72Ser)
n.99-1637A>T
c.300A>T (p.Arg100Ser)
c.25-1637A>T (n.25-1637A>T)
c.408A>T (p.Arg136Ser)
1g.8957274C>ACA338184916CA6c.397C>A (p.His133Asn)
c.217C>A (p.His73Asn)
n.99-1636C>A
c.301C>A (p.His101Asn)
c.25-1636C>A (n.25-1636C>A)
c.409C>A (p.His137Asn)
1g.8957274C=CA1152580843CA6c.397C= (p.His133=)
c.217C= (p.His73=)
n.99-1636C=
c.301C= (p.His101=)
c.25-1636C= (n.25-1636C=)
c.409C= (p.His137=)
1g.8957274C>GCA338184918CA6c.397C>G (p.His133Asp)
c.217C>G (p.His73Asp)
n.99-1636C>G
c.301C>G (p.His101Asp)
c.25-1636C>G (n.25-1636C>G)
c.409C>G (p.His137Asp)
1g.8957274C>TCA338184917CA6c.397C>T (p.His133Tyr)
c.217C>T (p.His73Tyr)
n.99-1636C>T
c.301C>T (p.His101Tyr)
c.25-1636C>T (n.25-1636C>T)
c.409C>T (p.His137Tyr)
dbSNP gnomAD v4
1g.8957274_8957276delinsCATCA1152580844CA6c.397_399delinsCAT (p.His133=)
c.217_219delinsCAT (p.His73=)
n.99-1636_99-1634delinsCAT
c.301_303delinsCAT (p.His101=)
c.25-1636_25-1634delinsCAT (n.25-1636_25-1634delinsCAT)
c.409_411delinsCAT (p.His137=)
1g.8957275A=CA1152580848CA6c.398A= (p.His133=)
c.218A= (p.His73=)
n.99-1635A=
c.302A= (p.His101=)
c.25-1635A= (n.25-1635A=)
c.410A= (p.His137=)
1g.8957275A>CCA338184919CA6c.398A>C (p.His133Pro)
c.218A>C (p.His73Pro)
n.99-1635A>C
c.302A>C (p.His101Pro)
c.25-1635A>C (n.25-1635A>C)
c.410A>C (p.His137Pro)
dbSNP gnomAD v3 gnomAD v4
1g.8957275A>GCA338184920CA6c.398A>G (p.His133Arg)
c.218A>G (p.His73Arg)
n.99-1635A>G
c.302A>G (p.His101Arg)
c.25-1635A>G (n.25-1635A>G)
c.410A>G (p.His137Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8957275A>TCA338184921CA6c.398A>T (p.His133Leu)
c.218A>T (p.His73Leu)
n.99-1635A>T
c.302A>T (p.His101Leu)
c.25-1635A>T (n.25-1635A>T)
c.410A>T (p.His137Leu)
1g.8957275_8957276delCA415858919CA6c.398_399del (p.His133ArgfsTer12)
c.218_219del (p.His73ArgfsTer12)
n.99-1635_99-1634del
c.302_303del (p.His101ArgfsTer12)
c.25-1635_25-1634del (n.25-1635_25-1634del)
c.410_411del (p.His137ArgfsTer12)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8957276T>ACA338184922CA6c.399T>A (p.His133Gln)
c.219T>A (p.His73Gln)
n.99-1634T>A
c.303T>A (p.His101Gln)
c.25-1634T>A (n.25-1634T>A)
c.411T>A (p.His137Gln)
1g.8957276T>CCA415858920CA6c.399T>C (p.His133=)
c.219T>C (p.His73=)
n.99-1634T>C
c.303T>C (p.His101=)
c.25-1634T>C (n.25-1634T>C)
c.411T>C (p.His137=)
gnomAD v4
1g.8957276T>GCA338184923CA6c.399T>G (p.His133Gln)
c.219T>G (p.His73Gln)
n.99-1634T>G
c.303T>G (p.His101Gln)
c.25-1634T>G (n.25-1634T>G)
c.411T>G (p.His137Gln)
1g.8957277G>ACA572978CA6c.400G>A (p.Val134Met)
c.220G>A (p.Val74Met)
n.99-1633G>A
c.304G>A (p.Val102Met)
c.25-1633G>A (n.25-1633G>A)
c.412G>A (p.Val138Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8957277G>CCA338184924CA6c.400G>C (p.Val134Leu)
c.220G>C (p.Val74Leu)
n.99-1633G>C
c.304G>C (p.Val102Leu)
c.25-1633G>C (n.25-1633G>C)
c.412G>C (p.Val138Leu)
1g.8957277G=CA1152580850CA6c.400G= (p.Val134=)
c.220G= (p.Val74=)
n.99-1633G=
c.304G= (p.Val102=)
c.25-1633G= (n.25-1633G=)
c.412G= (p.Val138=)
1g.8957277G>TCA338184925CA6c.400G>T (p.Val134Leu)
c.220G>T (p.Val74Leu)
n.99-1633G>T
c.304G>T (p.Val102Leu)
c.25-1633G>T (n.25-1633G>T)
c.412G>T (p.Val138Leu)
1g.8957278T>ACA338184926CA6c.401T>A (p.Val134Glu)
c.221T>A (p.Val74Glu)
n.99-1632T>A
c.305T>A (p.Val102Glu)
c.25-1632T>A (n.25-1632T>A)
c.413T>A (p.Val138Glu)
1g.8957278T>CCA338184927CA6c.401T>C (p.Val134Ala)
c.221T>C (p.Val74Ala)
n.99-1632T>C
c.305T>C (p.Val102Ala)
c.25-1632T>C (n.25-1632T>C)
c.413T>C (p.Val138Ala)
1g.8957278T>GCA338184928CA6c.401T>G (p.Val134Gly)
c.221T>G (p.Val74Gly)
n.99-1632T>G
c.305T>G (p.Val102Gly)
c.25-1632T>G (n.25-1632T>G)
c.413T>G (p.Val138Gly)

Number of alleles fetched