Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.31933683G>ACA363495904C2c.330G>A (p.Lys110=)
c.147G>A (p.Lys49=)
c.516G>A (p.Lys172=)
c.11G>A (p.Arg4Lys)
c.111G>A (p.Lys37=)
n.236G>A
n.371G>A
c.120G>A (p.Lys40=)
c.110G>A
c.443-3636G>A (n.443-3636G>A)
c.*229G>A (n.*229G>A)
c.93G>A (p.Lys31=)
c.429G>A (p.Lys143=)
6g.31933683G>CCA363495908C2c.330G>C (p.Lys110Asn)
c.147G>C (p.Lys49Asn)
c.516G>C (p.Lys172Asn)
c.11G>C (p.Arg4Thr)
c.111G>C (p.Lys37Asn)
n.236G>C
n.371G>C
c.120G>C (p.Lys40Asn)
c.110G>C
c.443-3636G>C (n.443-3636G>C)
c.*229G>C (n.*229G>C)
c.93G>C (p.Lys31Asn)
c.429G>C (p.Lys143Asn)
6g.31933683G>TCA363495912C2c.330G>T (p.Lys110Asn)
c.147G>T (p.Lys49Asn)
c.516G>T (p.Lys172Asn)
c.11G>T (p.Arg4Met)
c.111G>T (p.Lys37Asn)
n.236G>T
n.371G>T
c.120G>T (p.Lys40Asn)
c.110G>T
c.443-3636G>T (n.443-3636G>T)
c.*229G>T (n.*229G>T)
c.93G>T (p.Lys31Asn)
c.429G>T (p.Lys143Asn)
6g.31933684G>ACA363495921C2c.331G>A (p.Val111Ile)
c.148G>A (p.Val50Ile)
c.517G>A (p.Val173Ile)
c.12G>A (p.Arg4=)
c.112G>A (p.Val38Ile)
n.237G>A
n.372G>A
c.121G>A (p.Val41Ile)
c.111G>A
c.443-3635G>A (n.443-3635G>A)
c.*230G>A (n.*230G>A)
c.94G>A (p.Val32Ile)
c.430G>A (p.Val144Ile)
 ClinVar dbSNP gnomAD v4
6g.31933684G>CCA363495915C2c.331G>C (p.Val111Leu)
c.148G>C (p.Val50Leu)
c.517G>C (p.Val173Leu)
c.12G>C (p.Arg4Ser)
c.112G>C (p.Val38Leu)
n.237G>C
n.372G>C
c.121G>C (p.Val41Leu)
c.111G>C
c.443-3635G>C (n.443-3635G>C)
c.*230G>C (n.*230G>C)
c.94G>C (p.Val32Leu)
c.430G>C (p.Val144Leu)
6g.31933684G>TCA363495918C2c.331G>T (p.Val111Phe)
c.148G>T (p.Val50Phe)
c.517G>T (p.Val173Phe)
c.12G>T (p.Arg4Ser)
c.112G>T (p.Val38Phe)
n.237G>T
n.372G>T
c.121G>T (p.Val41Phe)
c.111G>T
c.443-3635G>T (n.443-3635G>T)
c.*230G>T (n.*230G>T)
c.94G>T (p.Val32Phe)
c.430G>T (p.Val144Phe)
6g.31933685T>ACA363495922C2c.332T>A (p.Val111Asp)
c.149T>A (p.Val50Asp)
c.518T>A (p.Val173Asp)
c.13T>A (p.Ser5Thr)
c.113T>A (p.Val38Asp)
n.238T>A
n.373T>A
c.122T>A (p.Val41Asp)
c.112T>A
c.443-3634T>A (n.443-3634T>A)
c.*231T>A (n.*231T>A)
c.95T>A (p.Val32Asp)
c.431T>A (p.Val144Asp)
6g.31933685T>CCA363495923C2c.332T>C (p.Val111Ala)
c.149T>C (p.Val50Ala)
c.518T>C (p.Val173Ala)
c.13T>C (p.Ser5Pro)
c.113T>C (p.Val38Ala)
n.238T>C
n.373T>C
c.122T>C (p.Val41Ala)
c.112T>C
c.443-3634T>C (n.443-3634T>C)
c.*231T>C (n.*231T>C)
c.95T>C (p.Val32Ala)
c.431T>C (p.Val144Ala)
6g.31933685T>GCA363495924C2c.332T>G (p.Val111Gly)
c.149T>G (p.Val50Gly)
c.518T>G (p.Val173Gly)
c.13T>G (p.Ser5Ala)
c.113T>G (p.Val38Gly)
n.238T>G
n.373T>G
c.122T>G (p.Val41Gly)
c.112T>G
c.443-3634T>G (n.443-3634T>G)
c.*231T>G (n.*231T>G)
c.95T>G (p.Val32Gly)
c.431T>G (p.Val144Gly)
6g.31933686C>ACA363495928C2c.333C>A (p.Val111=)
c.150C>A (p.Val50=)
c.519C>A (p.Val173=)
c.14C>A (p.Ser5Tyr)
c.114C>A (p.Val38=)
n.239C>A
n.374C>A
c.123C>A (p.Val41=)
c.113C>A
c.443-3633C>A (n.443-3633C>A)
c.*232C>A (n.*232C>A)
c.96C>A (p.Val32=)
c.432C>A (p.Val144=)
6g.31933686C>GCA363495930C2c.333C>G (p.Val111=)
c.150C>G (p.Val50=)
c.519C>G (p.Val173=)
c.14C>G (p.Ser5Cys)
c.114C>G (p.Val38=)
n.239C>G
n.374C>G
c.123C>G (p.Val41=)
c.113C>G
c.443-3633C>G (n.443-3633C>G)
c.*232C>G (n.*232C>G)
c.96C>G (p.Val32=)
c.432C>G (p.Val144=)
 gnomAD v4
6g.31933686C>TCA363495933C2c.333C>T (p.Val111=)
c.150C>T (p.Val50=)
c.519C>T (p.Val173=)
c.14C>T (p.Ser5Phe)
c.114C>T (p.Val38=)
n.239C>T
n.374C>T
c.123C>T (p.Val41=)
c.113C>T
c.443-3633C>T (n.443-3633C>T)
c.*232C>T (n.*232C>T)
c.96C>T (p.Val32=)
c.432C>T (p.Val144=)
6g.31933687C>ACA363495938C2c.334C>A (p.Arg112Ser)
c.151C>A (p.Arg51Ser)
c.520C>A (p.Arg174Ser)
c.15C>A (p.Ser5=)
c.115C>A (p.Arg39Ser)
n.240C>A
n.375C>A
c.124C>A (p.Arg42Ser)
c.114C>A
c.443-3632C>A (n.443-3632C>A)
c.*233C>A (n.*233C>A)
c.97C>A (p.Arg33Ser)
c.433C>A (p.Arg145Ser)
6g.31933687C=CA1619369812C2c.334C= (p.Arg112=)
c.151C= (p.Arg51=)
c.520C= (p.Arg174=)
c.15C= (p.Ser5=)
c.115C= (p.Arg39=)
n.240C=
n.375C=
c.124C= (p.Arg42=)
c.114C=
c.443-3632C= (n.443-3632C=)
c.*233C= (n.*233C=)
c.97C= (p.Arg33=)
c.433C= (p.Arg145=)
6g.31933687C>GCA363495941C2c.334C>G (p.Arg112Gly)
c.151C>G (p.Arg51Gly)
c.520C>G (p.Arg174Gly)
c.15C>G (p.Ser5=)
c.115C>G (p.Arg39Gly)
n.240C>G
n.375C>G
c.124C>G (p.Arg42Gly)
c.114C>G
c.443-3632C>G (n.443-3632C>G)
c.*233C>G (n.*233C>G)
c.97C>G (p.Arg33Gly)
c.433C>G (p.Arg145Gly)
 gnomAD v4
6g.31933687C>TCA3727417C2c.334C>T (p.Arg112Cys)
c.151C>T (p.Arg51Cys)
c.520C>T (p.Arg174Cys)
c.15C>T (p.Ser5=)
c.115C>T (p.Arg39Cys)
n.240C>T
n.375C>T
c.124C>T (p.Arg42Cys)
c.114C>T
c.443-3632C>T (n.443-3632C>T)
c.*233C>T (n.*233C>T)
c.97C>T (p.Arg33Cys)
c.433C>T (p.Arg145Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.31933688G>ACA3727418C2c.335G>A (p.Arg112His)
c.152G>A (p.Arg51His)
c.521G>A (p.Arg174His)
c.16G>A (p.Ala6Thr)
c.116G>A (p.Arg39His)
n.241G>A
n.376G>A
c.125G>A (p.Arg42His)
c.115G>A
c.443-3631G>A (n.443-3631G>A)
c.*234G>A (n.*234G>A)
c.98G>A (p.Arg33His)
c.434G>A (p.Arg145His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933688G>CCA363495951C2c.335G>C (p.Arg112Pro)
c.152G>C (p.Arg51Pro)
c.521G>C (p.Arg174Pro)
c.16G>C (p.Ala6Pro)
c.116G>C (p.Arg39Pro)
n.241G>C
n.376G>C
c.125G>C (p.Arg42Pro)
c.115G>C
c.443-3631G>C (n.443-3631G>C)
c.*234G>C (n.*234G>C)
c.98G>C (p.Arg33Pro)
c.434G>C (p.Arg145Pro)
6g.31933688G=CA1619369813C2c.335G= (p.Arg112=)
c.152G= (p.Arg51=)
c.521G= (p.Arg174=)
c.16G= (p.Ala6=)
c.116G= (p.Arg39=)
n.241G=
n.376G=
c.125G= (p.Arg42=)
c.115G=
c.443-3631G= (n.443-3631G=)
c.*234G= (n.*234G=)
c.98G= (p.Arg33=)
c.434G= (p.Arg145=)
6g.31933688G>TCA3727419C2c.335G>T (p.Arg112Leu)
c.152G>T (p.Arg51Leu)
c.521G>T (p.Arg174Leu)
c.16G>T (p.Ala6Ser)
c.116G>T (p.Arg39Leu)
n.241G>T
n.376G>T
c.125G>T (p.Arg42Leu)
c.115G>T
c.443-3631G>T (n.443-3631G>T)
c.*234G>T (n.*234G>T)
c.98G>T (p.Arg33Leu)
c.434G>T (p.Arg145Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31933689C>ACA363495963C2c.336C>A (p.Arg112=)
c.153C>A (p.Arg51=)
c.522C>A (p.Arg174=)
c.17C>A (p.Ala6Asp)
c.117C>A (p.Arg39=)
n.242C>A
n.377C>A
c.126C>A (p.Arg42=)
c.116C>A
c.443-3630C>A (n.443-3630C>A)
c.*235C>A (n.*235C>A)
c.99C>A (p.Arg33=)
c.435C>A (p.Arg145=)
6g.31933689C>GCA363495966C2c.336C>G (p.Arg112=)
c.153C>G (p.Arg51=)
c.522C>G (p.Arg174=)
c.17C>G (p.Ala6Gly)
c.117C>G (p.Arg39=)
n.242C>G
n.377C>G
c.126C>G (p.Arg42=)
c.116C>G
c.443-3630C>G (n.443-3630C>G)
c.*235C>G (n.*235C>G)
c.99C>G (p.Arg33=)
c.435C>G (p.Arg145=)
6g.31933689C>TCA363495958C2c.336C>T (p.Arg112=)
c.153C>T (p.Arg51=)
c.522C>T (p.Arg174=)
c.17C>T (p.Ala6Val)
c.117C>T (p.Arg39=)
n.242C>T
n.377C>T
c.126C>T (p.Arg42=)
c.116C>T
c.443-3630C>T (n.443-3630C>T)
c.*235C>T (n.*235C>T)
c.99C>T (p.Arg33=)
c.435C>T (p.Arg145=)
6g.31933690T>ACA363495975C2c.337T>A (p.Tyr113Asn)
c.154T>A (p.Tyr52Asn)
c.523T>A (p.Tyr175Asn)
c.18T>A (p.Ala6=)
c.118T>A (p.Tyr40Asn)
n.243T>A
n.378T>A
c.127T>A (p.Tyr43Asn)
c.117T>A
c.443-3629T>A (n.443-3629T>A)
c.*236T>A (n.*236T>A)
c.100T>A (p.Tyr34Asn)
c.436T>A (p.Tyr146Asn)
6g.31933690T>CCA363495970C2c.337T>C (p.Tyr113His)
c.154T>C (p.Tyr52His)
c.523T>C (p.Tyr175His)
c.18T>C (p.Ala6=)
c.118T>C (p.Tyr40His)
n.243T>C
n.378T>C
c.127T>C (p.Tyr43His)
c.117T>C
c.443-3629T>C (n.443-3629T>C)
c.*236T>C (n.*236T>C)
c.100T>C (p.Tyr34His)
c.436T>C (p.Tyr146His)
 COSMIC
6g.31933690T>GCA363495972C2c.337T>G (p.Tyr113Asp)
c.154T>G (p.Tyr52Asp)
c.523T>G (p.Tyr175Asp)
c.18T>G (p.Ala6=)
c.118T>G (p.Tyr40Asp)
n.243T>G
n.378T>G
c.127T>G (p.Tyr43Asp)
c.117T>G
c.443-3629T>G (n.443-3629T>G)
c.*236T>G (n.*236T>G)
c.100T>G (p.Tyr34Asp)
c.436T>G (p.Tyr146Asp)
6g.31933691A=CA1619369814C2c.338A= (p.Tyr113=)
c.155A= (p.Tyr52=)
c.524A= (p.Tyr175=)
c.19A= (p.Ile7=)
c.119A= (p.Tyr40=)
n.244A=
n.379A=
c.128A= (p.Tyr43=)
c.118A=
c.443-3628A= (n.443-3628A=)
c.*237A= (n.*237A=)
c.101A= (p.Tyr34=)
c.437A= (p.Tyr146=)
6g.31933691A>CCA363495981C2c.338A>C (p.Tyr113Ser)
c.155A>C (p.Tyr52Ser)
c.524A>C (p.Tyr175Ser)
c.19A>C (p.Ile7Leu)
c.119A>C (p.Tyr40Ser)
n.244A>C
n.379A>C
c.128A>C (p.Tyr43Ser)
c.118A>C
c.443-3628A>C (n.443-3628A>C)
c.*237A>C (n.*237A>C)
c.101A>C (p.Tyr34Ser)
c.437A>C (p.Tyr146Ser)
 gnomAD v4
6g.31933691A>GCA3727420C2c.338A>G (p.Tyr113Cys)
c.155A>G (p.Tyr52Cys)
c.524A>G (p.Tyr175Cys)
c.19A>G (p.Ile7Val)
c.119A>G (p.Tyr40Cys)
n.244A>G
n.379A>G
c.128A>G (p.Tyr43Cys)
c.118A>G
c.443-3628A>G (n.443-3628A>G)
c.*237A>G (n.*237A>G)
c.101A>G (p.Tyr34Cys)
c.437A>G (p.Tyr146Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933691A>TCA363495989C2c.338A>T (p.Tyr113Phe)
c.155A>T (p.Tyr52Phe)
c.524A>T (p.Tyr175Phe)
c.19A>T (p.Ile7Phe)
c.119A>T (p.Tyr40Phe)
n.244A>T
n.379A>T
c.128A>T (p.Tyr43Phe)
c.118A>T
c.443-3628A>T (n.443-3628A>T)
c.*237A>T (n.*237A>T)
c.101A>T (p.Tyr34Phe)
c.437A>T (p.Tyr146Phe)
6g.31933692T>ACA363495994C2c.339T>A (p.Tyr113Ter)
c.156T>A (p.Tyr52Ter)
c.525T>A (p.Tyr175Ter)
c.20T>A (p.Ile7Asn)
c.120T>A (p.Tyr40Ter)
n.245T>A
n.380T>A
c.129T>A (p.Tyr43Ter)
c.119T>A
c.443-3627T>A (n.443-3627T>A)
c.*238T>A (n.*238T>A)
c.102T>A (p.Tyr34Ter)
c.438T>A (p.Tyr146Ter)
6g.31933692T>CCA363495996C2c.339T>C (p.Tyr113=)
c.156T>C (p.Tyr52=)
c.525T>C (p.Tyr175=)
c.20T>C (p.Ile7Thr)
c.120T>C (p.Tyr40=)
n.245T>C
n.380T>C
c.129T>C (p.Tyr43=)
c.119T>C
c.443-3627T>C (n.443-3627T>C)
c.*238T>C (n.*238T>C)
c.102T>C (p.Tyr34=)
c.438T>C (p.Tyr146=)
6g.31933692T>GCA363495997C2c.339T>G (p.Tyr113Ter)
c.156T>G (p.Tyr52Ter)
c.525T>G (p.Tyr175Ter)
c.20T>G (p.Ile7Ser)
c.120T>G (p.Tyr40Ter)
n.245T>G
n.380T>G
c.129T>G (p.Tyr43Ter)
c.119T>G
c.443-3627T>G (n.443-3627T>G)
c.*238T>G (n.*238T>G)
c.102T>G (p.Tyr34Ter)
c.438T>G (p.Tyr146Ter)
6g.31933693C>ACA363495998C2c.340C>A (p.Arg114Ser)
c.157C>A (p.Arg53Ser)
c.526C>A (p.Arg176Ser)
c.21C>A (p.Ile7=)
c.121C>A (p.Arg41Ser)
n.246C>A
n.381C>A
c.130C>A (p.Arg44Ser)
c.120C>A
c.443-3626C>A (n.443-3626C>A)
c.*239C>A (n.*239C>A)
c.103C>A (p.Arg35Ser)
c.439C>A (p.Arg147Ser)
6g.31933693C=CA1619369815C2c.340C= (p.Arg114=)
c.157C= (p.Arg53=)
c.526C= (p.Arg176=)
c.21C= (p.Ile7=)
c.121C= (p.Arg41=)
n.246C=
n.381C=
c.130C= (p.Arg44=)
c.120C=
c.443-3626C= (n.443-3626C=)
c.*239C= (n.*239C=)
c.103C= (p.Arg35=)
c.439C= (p.Arg147=)
6g.31933693C>GCA363495999C2c.340C>G (p.Arg114Gly)
c.157C>G (p.Arg53Gly)
c.526C>G (p.Arg176Gly)
c.21C>G (p.Ile7Met)
c.121C>G (p.Arg41Gly)
n.246C>G
n.381C>G
c.130C>G (p.Arg44Gly)
c.120C>G
c.443-3626C>G (n.443-3626C>G)
c.*239C>G (n.*239C>G)
c.103C>G (p.Arg35Gly)
c.439C>G (p.Arg147Gly)
 dbSNP gnomAD v2
6g.31933693C>TCA3727421C2c.340C>T (p.Arg114Cys)
c.157C>T (p.Arg53Cys)
c.526C>T (p.Arg176Cys)
c.21C>T (p.Ile7=)
c.121C>T (p.Arg41Cys)
n.246C>T
n.381C>T
c.130C>T (p.Arg44Cys)
c.120C>T
c.443-3626C>T (n.443-3626C>T)
c.*239C>T (n.*239C>T)
c.103C>T (p.Arg35Cys)
c.439C>T (p.Arg147Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933694G>ACA3727422C2c.341G>A (p.Arg114His)
c.158G>A (p.Arg53His)
c.527G>A (p.Arg176His)
c.22G>A (p.Ala8Thr)
c.122G>A (p.Arg41His)
n.247G>A
n.382G>A
c.131G>A (p.Arg44His)
c.121G>A
c.443-3625G>A (n.443-3625G>A)
c.*240G>A (n.*240G>A)
c.104G>A (p.Arg35His)
c.440G>A (p.Arg147His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.31933694G>CCA363496004C2c.341G>C (p.Arg114Pro)
c.158G>C (p.Arg53Pro)
c.527G>C (p.Arg176Pro)
c.22G>C (p.Ala8Pro)
c.122G>C (p.Arg41Pro)
n.247G>C
n.382G>C
c.131G>C (p.Arg44Pro)
c.121G>C
c.443-3625G>C (n.443-3625G>C)
c.*240G>C (n.*240G>C)
c.104G>C (p.Arg35Pro)
c.440G>C (p.Arg147Pro)
6g.31933694G=CA1619369816C2c.341G= (p.Arg114=)
c.158G= (p.Arg53=)
c.527G= (p.Arg176=)
c.22G= (p.Ala8=)
c.122G= (p.Arg41=)
n.247G=
n.382G=
c.131G= (p.Arg44=)
c.121G=
c.443-3625G= (n.443-3625G=)
c.*240G= (n.*240G=)
c.104G= (p.Arg35=)
c.440G= (p.Arg147=)
6g.31933694G>TCA363496002C2c.341G>T (p.Arg114Leu)
c.158G>T (p.Arg53Leu)
c.527G>T (p.Arg176Leu)
c.22G>T (p.Ala8Ser)
c.122G>T (p.Arg41Leu)
n.247G>T
n.382G>T
c.131G>T (p.Arg44Leu)
c.121G>T
c.443-3625G>T (n.443-3625G>T)
c.*240G>T (n.*240G>T)
c.104G>T (p.Arg35Leu)
c.440G>T (p.Arg147Leu)
6g.31933695C>ACA363496010C2c.342C>A (p.Arg114=)
c.159C>A (p.Arg53=)
c.528C>A (p.Arg176=)
c.23C>A (p.Ala8Asp)
c.123C>A (p.Arg41=)
n.248C>A
n.383C>A
c.132C>A (p.Arg44=)
c.122C>A
c.443-3624C>A (n.443-3624C>A)
c.*241C>A (n.*241C>A)
c.105C>A (p.Arg35=)
c.441C>A (p.Arg147=)
6g.31933695C=CA1619369817C2c.342C= (p.Arg114=)
c.159C= (p.Arg53=)
c.528C= (p.Arg176=)
c.23C= (p.Ala8=)
c.123C= (p.Arg41=)
n.248C=
n.383C=
c.132C= (p.Arg44=)
c.122C=
c.443-3624C= (n.443-3624C=)
c.*241C= (n.*241C=)
c.105C= (p.Arg35=)
c.441C= (p.Arg147=)
6g.31933695C>GCA363496012C2c.342C>G (p.Arg114=)
c.159C>G (p.Arg53=)
c.528C>G (p.Arg176=)
c.23C>G (p.Ala8Gly)
c.123C>G (p.Arg41=)
n.248C>G
n.383C>G
c.132C>G (p.Arg44=)
c.122C>G
c.443-3624C>G (n.443-3624C>G)
c.*241C>G (n.*241C>G)
c.105C>G (p.Arg35=)
c.441C>G (p.Arg147=)
6g.31933695C>TCA136929009C2c.342C>T (p.Arg114=)
c.159C>T (p.Arg53=)
c.528C>T (p.Arg176=)
c.23C>T (p.Ala8Val)
c.123C>T (p.Arg41=)
n.248C>T
n.383C>T
c.132C>T (p.Arg44=)
c.122C>T
c.443-3624C>T (n.443-3624C>T)
c.*241C>T (n.*241C>T)
c.105C>T (p.Arg35=)
c.441C>T (p.Arg147=)
 dbSNP gnomAD v2 gnomAD v4
6g.31933696T>ACA363496016C2c.343T>A (p.Cys115Ser)
c.160T>A (p.Cys54Ser)
c.529T>A (p.Cys177Ser)
c.24T>A (p.Ala8=)
c.124T>A (p.Cys42Ser)
n.249T>A
n.384T>A
c.133T>A (p.Cys45Ser)
c.123T>A
c.443-3623T>A (n.443-3623T>A)
c.*242T>A (n.*242T>A)
c.106T>A (p.Cys36Ser)
c.442T>A (p.Cys148Ser)
6g.31933696T>CCA363496019C2c.343T>C (p.Cys115Arg)
c.160T>C (p.Cys54Arg)
c.529T>C (p.Cys177Arg)
c.24T>C (p.Ala8=)
c.124T>C (p.Cys42Arg)
n.249T>C
n.384T>C
c.133T>C (p.Cys45Arg)
c.123T>C
c.443-3623T>C (n.443-3623T>C)
c.*242T>C (n.*242T>C)
c.106T>C (p.Cys36Arg)
c.442T>C (p.Cys148Arg)
6g.31933696T>GCA363496026C2c.343T>G (p.Cys115Gly)
c.160T>G (p.Cys54Gly)
c.529T>G (p.Cys177Gly)
c.24T>G (p.Ala8=)
c.124T>G (p.Cys42Gly)
n.249T>G
n.384T>G
c.133T>G (p.Cys45Gly)
c.123T>G
c.443-3623T>G (n.443-3623T>G)
c.*242T>G (n.*242T>G)
c.106T>G (p.Cys36Gly)
c.442T>G (p.Cys148Gly)
6g.31933697G>ACA363496033C2c.344G>A (p.Cys115Tyr)
c.161G>A (p.Cys54Tyr)
c.530G>A (p.Cys177Tyr)
c.25G>A (p.Ala9Thr)
c.125G>A (p.Cys42Tyr)
n.250G>A
n.385G>A
c.134G>A (p.Cys45Tyr)
c.124G>A
c.443-3622G>A (n.443-3622G>A)
c.*243G>A (n.*243G>A)
c.107G>A (p.Cys36Tyr)
c.443G>A (p.Cys148Tyr)
 dbSNP
6g.31933697G>CCA363496035C2c.344G>C (p.Cys115Ser)
c.161G>C (p.Cys54Ser)
c.530G>C (p.Cys177Ser)
c.25G>C (p.Ala9Pro)
c.125G>C (p.Cys42Ser)
n.250G>C
n.385G>C
c.134G>C (p.Cys45Ser)
c.124G>C
c.443-3622G>C (n.443-3622G>C)
c.*243G>C (n.*243G>C)
c.107G>C (p.Cys36Ser)
c.443G>C (p.Cys148Ser)
6g.31933697G=CA1619369818C2c.344G= (p.Cys115=)
c.161G= (p.Cys54=)
c.530G= (p.Cys177=)
c.25G= (p.Ala9=)
c.125G= (p.Cys42=)
n.250G=
n.385G=
c.134G= (p.Cys45=)
c.124G=
c.443-3622G= (n.443-3622G=)
c.*243G= (n.*243G=)
c.107G= (p.Cys36=)
c.443G= (p.Cys148=)
6g.31933697G>TCA363496037C2c.344G>T (p.Cys115Phe)
c.161G>T (p.Cys54Phe)
c.530G>T (p.Cys177Phe)
c.25G>T (p.Ala9Ser)
c.125G>T (p.Cys42Phe)
n.250G>T
n.385G>T
c.134G>T (p.Cys45Phe)
c.124G>T
c.443-3622G>T (n.443-3622G>T)
c.*243G>T (n.*243G>T)
c.107G>T (p.Cys36Phe)
c.443G>T (p.Cys148Phe)
 COSMIC
6g.31933698C>ACA363496043C2c.345C>A (p.Cys115Ter)
c.162C>A (p.Cys54Ter)
c.531C>A (p.Cys177Ter)
c.26C>A (p.Ala9Asp)
c.126C>A (p.Cys42Ter)
n.251C>A
n.386C>A
c.135C>A (p.Cys45Ter)
c.125C>A
c.443-3621C>A (n.443-3621C>A)
c.*244C>A (n.*244C>A)
c.108C>A (p.Cys36Ter)
c.444C>A (p.Cys148Ter)
 dbSNP gnomAD v2 gnomAD v4
6g.31933698C=CA1619369819C2c.345C= (p.Cys115=)
c.162C= (p.Cys54=)
c.531C= (p.Cys177=)
c.26C= (p.Ala9=)
c.126C= (p.Cys42=)
n.251C=
n.386C=
c.135C= (p.Cys45=)
c.125C=
c.443-3621C= (n.443-3621C=)
c.*244C= (n.*244C=)
c.108C= (p.Cys36=)
c.444C= (p.Cys148=)
6g.31933698C>GCA363496045C2c.345C>G (p.Cys115Trp)
c.162C>G (p.Cys54Trp)
c.531C>G (p.Cys177Trp)
c.26C>G (p.Ala9Gly)
c.126C>G (p.Cys42Trp)
n.251C>G
n.386C>G
c.135C>G (p.Cys45Trp)
c.125C>G
c.443-3621C>G (n.443-3621C>G)
c.*244C>G (n.*244C>G)
c.108C>G (p.Cys36Trp)
c.444C>G (p.Cys148Trp)
6g.31933698C>TCA363496047C2c.345C>T (p.Cys115=)
c.162C>T (p.Cys54=)
c.531C>T (p.Cys177=)
c.26C>T (p.Ala9Val)
c.126C>T (p.Cys42=)
n.251C>T
n.386C>T
c.135C>T (p.Cys45=)
c.125C>T
c.443-3621C>T (n.443-3621C>T)
c.*244C>T (n.*244C>T)
c.108C>T (p.Cys36=)
c.444C>T (p.Cys148=)
6g.31933699T>ACA363496056C2c.346T>A (p.Ser116Thr)
c.163T>A (p.Ser55Thr)
c.532T>A (p.Ser178Thr)
c.27T>A (p.Ala9=)
c.127T>A (p.Ser43Thr)
n.252T>A
n.387T>A
c.136T>A (p.Ser46Thr)
c.126T>A
c.443-3620T>A (n.443-3620T>A)
c.*245T>A (n.*245T>A)
c.109T>A (p.Ser37Thr)
c.445T>A (p.Ser149Thr)
6g.31933699T>CCA363496057C2c.346T>C (p.Ser116Pro)
c.163T>C (p.Ser55Pro)
c.532T>C (p.Ser178Pro)
c.27T>C (p.Ala9=)
c.127T>C (p.Ser43Pro)
n.252T>C
n.387T>C
c.136T>C (p.Ser46Pro)
c.126T>C
c.443-3620T>C (n.443-3620T>C)
c.*245T>C (n.*245T>C)
c.109T>C (p.Ser37Pro)
c.445T>C (p.Ser149Pro)
6g.31933699T>GCA363496052C2c.346T>G (p.Ser116Ala)
c.163T>G (p.Ser55Ala)
c.532T>G (p.Ser178Ala)
c.27T>G (p.Ala9=)
c.127T>G (p.Ser43Ala)
n.252T>G
n.387T>G
c.136T>G (p.Ser46Ala)
c.126T>G
c.443-3620T>G (n.443-3620T>G)
c.*245T>G (n.*245T>G)
c.109T>G (p.Ser37Ala)
c.445T>G (p.Ser149Ala)
6g.31933700C>ACA363496064C2c.347C>A (p.Ser116Tyr)
c.164C>A (p.Ser55Tyr)
c.533C>A (p.Ser178Tyr)
c.28C>A (p.Pro10Thr)
c.128C>A (p.Ser43Tyr)
n.253C>A
n.388C>A
c.137C>A (p.Ser46Tyr)
c.127C>A
c.443-3619C>A (n.443-3619C>A)
c.*246C>A (n.*246C>A)
c.110C>A (p.Ser37Tyr)
c.446C>A (p.Ser149Tyr)
6g.31933700C>GCA363496068C2c.347C>G (p.Ser116Cys)
c.164C>G (p.Ser55Cys)
c.533C>G (p.Ser178Cys)
c.28C>G (p.Pro10Ala)
c.128C>G (p.Ser43Cys)
n.253C>G
n.388C>G
c.137C>G (p.Ser46Cys)
c.127C>G
c.443-3619C>G (n.443-3619C>G)
c.*246C>G (n.*246C>G)
c.110C>G (p.Ser37Cys)
c.446C>G (p.Ser149Cys)
6g.31933700C>TCA363496071C2c.347C>T (p.Ser116Phe)
c.164C>T (p.Ser55Phe)
c.533C>T (p.Ser178Phe)
c.28C>T (p.Pro10Ser)
c.128C>T (p.Ser43Phe)
n.253C>T
n.388C>T
c.137C>T (p.Ser46Phe)
c.127C>T
c.443-3619C>T (n.443-3619C>T)
c.*246C>T (n.*246C>T)
c.110C>T (p.Ser37Phe)
c.446C>T (p.Ser149Phe)
6g.31933701C>ACA363496075C2c.348C>A (p.Ser116=)
c.165C>A (p.Ser55=)
c.534C>A (p.Ser178=)
c.29C>A (p.Pro10His)
c.129C>A (p.Ser43=)
n.254C>A
n.389C>A
c.138C>A (p.Ser46=)
c.128C>A
c.443-3618C>A (n.443-3618C>A)
c.*247C>A (n.*247C>A)
c.111C>A (p.Ser37=)
c.447C>A (p.Ser149=)
 ClinVar
6g.31933701C=CA1619369820C2c.348C= (p.Ser116=)
c.165C= (p.Ser55=)
c.534C= (p.Ser178=)
c.29C= (p.Pro10=)
c.129C= (p.Ser43=)
n.254C=
n.389C=
c.138C= (p.Ser46=)
c.128C=
c.443-3618C= (n.443-3618C=)
c.*247C= (n.*247C=)
c.111C= (p.Ser37=)
c.447C= (p.Ser149=)
6g.31933701C>GCA136929010C2c.348C>G (p.Ser116=)
c.165C>G (p.Ser55=)
c.534C>G (p.Ser178=)
c.29C>G (p.Pro10Arg)
c.129C>G (p.Ser43=)
n.254C>G
n.389C>G
c.138C>G (p.Ser46=)
c.128C>G
c.443-3618C>G (n.443-3618C>G)
c.*247C>G (n.*247C>G)
c.111C>G (p.Ser37=)
c.447C>G (p.Ser149=)
 dbSNP gnomAD v4
6g.31933701C>TCA363496079C2c.348C>T (p.Ser116=)
c.165C>T (p.Ser55=)
c.534C>T (p.Ser178=)
c.29C>T (p.Pro10Leu)
c.129C>T (p.Ser43=)
n.254C>T
n.389C>T
c.138C>T (p.Ser46=)
c.128C>T
c.443-3618C>T (n.443-3618C>T)
c.*247C>T (n.*247C>T)
c.111C>T (p.Ser37=)
c.447C>T (p.Ser149=)
 gnomAD v4 COSMIC
6g.31933702T>ACA363496083C2c.349T>A (p.Ser117Thr)
c.166T>A (p.Ser56Thr)
c.535T>A (p.Ser179Thr)
c.30T>A (p.Pro10=)
c.130T>A (p.Ser44Thr)
n.255T>A
n.390T>A
c.139T>A (p.Ser47Thr)
c.129T>A
c.443-3617T>A (n.443-3617T>A)
c.*248T>A (n.*248T>A)
c.112T>A (p.Ser38Thr)
c.448T>A (p.Ser150Thr)
6g.31933702T>CCA363496088C2c.349T>C (p.Ser117Pro)
c.166T>C (p.Ser56Pro)
c.535T>C (p.Ser179Pro)
c.30T>C (p.Pro10=)
c.130T>C (p.Ser44Pro)
n.255T>C
n.390T>C
c.139T>C (p.Ser47Pro)
c.129T>C
c.443-3617T>C (n.443-3617T>C)
c.*248T>C (n.*248T>C)
c.112T>C (p.Ser38Pro)
c.448T>C (p.Ser150Pro)
6g.31933702T>GCA363496091C2c.349T>G (p.Ser117Ala)
c.166T>G (p.Ser56Ala)
c.535T>G (p.Ser179Ala)
c.30T>G (p.Pro10=)
c.130T>G (p.Ser44Ala)
n.255T>G
n.390T>G
c.139T>G (p.Ser47Ala)
c.129T>G
c.443-3617T>G (n.443-3617T>G)
c.*248T>G (n.*248T>G)
c.112T>G (p.Ser38Ala)
c.448T>G (p.Ser150Ala)
6g.31933703C>ACA363496095C2c.350C>A (p.Ser117Ter)
c.167C>A (p.Ser56Ter)
c.536C>A (p.Ser179Ter)
c.31C>A (p.Arg11=)
c.131C>A (p.Ser44Ter)
n.256C>A
n.391C>A
c.140C>A (p.Ser47Ter)
c.130C>A
c.443-3616C>A (n.443-3616C>A)
c.*249C>A (n.*249C>A)
c.113C>A (p.Ser38Ter)
c.449C>A (p.Ser150Ter)
6g.31933703C=CA1619369821C2c.350C= (p.Ser117=)
c.167C= (p.Ser56=)
c.536C= (p.Ser179=)
c.31C= (p.Arg11=)
c.131C= (p.Ser44=)
n.256C=
n.391C=
c.140C= (p.Ser47=)
c.130C=
c.443-3616C= (n.443-3616C=)
c.*249C= (n.*249C=)
c.113C= (p.Ser38=)
c.449C= (p.Ser150=)
6g.31933703C>GCA363496101C2c.350C>G (p.Ser117Trp)
c.167C>G (p.Ser56Trp)
c.536C>G (p.Ser179Trp)
c.31C>G (p.Arg11Gly)
c.131C>G (p.Ser44Trp)
n.256C>G
n.391C>G
c.140C>G (p.Ser47Trp)
c.130C>G
c.443-3616C>G (n.443-3616C>G)
c.*249C>G (n.*249C>G)
c.113C>G (p.Ser38Trp)
c.449C>G (p.Ser150Trp)
6g.31933703C>TCA3727423C2c.350C>T (p.Ser117Leu)
c.167C>T (p.Ser56Leu)
c.536C>T (p.Ser179Leu)
c.31C>T (p.Arg11Ter)
c.131C>T (p.Ser44Leu)
n.256C>T
n.391C>T
c.140C>T (p.Ser47Leu)
c.130C>T
c.443-3616C>T (n.443-3616C>T)
c.*249C>T (n.*249C>T)
c.113C>T (p.Ser38Leu)
c.449C>T (p.Ser150Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933704G>ACA3727424C2c.351G>A (p.Ser117=)
c.168G>A (p.Ser56=)
c.537G>A (p.Ser179=)
c.32G>A (p.Arg11Gln)
c.132G>A (p.Ser44=)
n.257G>A
n.392G>A
c.141G>A (p.Ser47=)
c.131G>A
c.443-3615G>A (n.443-3615G>A)
c.*250G>A (n.*250G>A)
c.114G>A (p.Ser38=)
c.450G>A (p.Ser150=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.31933704G>CCA363496113C2c.351G>C (p.Ser117=)
c.168G>C (p.Ser56=)
c.537G>C (p.Ser179=)
c.32G>C (p.Arg11Pro)
c.132G>C (p.Ser44=)
n.257G>C
n.392G>C
c.141G>C (p.Ser47=)
c.131G>C
c.443-3615G>C (n.443-3615G>C)
c.*250G>C (n.*250G>C)
c.114G>C (p.Ser38=)
c.450G>C (p.Ser150=)
6g.31933704G=CA1619369822C2c.351G= (p.Ser117=)
c.168G= (p.Ser56=)
c.537G= (p.Ser179=)
c.32G= (p.Arg11=)
c.132G= (p.Ser44=)
n.257G=
n.392G=
c.141G= (p.Ser47=)
c.131G=
c.443-3615G= (n.443-3615G=)
c.*250G= (n.*250G=)
c.114G= (p.Ser38=)
c.450G= (p.Ser150=)
6g.31933704G>TCA363496107C2c.351G>T (p.Ser117=)
c.168G>T (p.Ser56=)
c.537G>T (p.Ser179=)
c.32G>T (p.Arg11Leu)
c.132G>T (p.Ser44=)
n.257G>T
n.392G>T
c.141G>T (p.Ser47=)
c.131G>T
c.443-3615G>T (n.443-3615G>T)
c.*250G>T (n.*250G>T)
c.114G>T (p.Ser38=)
c.450G>T (p.Ser150=)
6g.31933704_31933705dupCA2695206140C2c.351_352dup (p.Asn118ArgfsTer?)
c.168_169dup (p.Asn57ArgfsTer?)
c.537_538dup (p.Asn180ArgfsTer?)
c.32_33dup (p.Ile12GlufsTer?)
c.132_133dup (p.Asn45ArgfsTer?)
n.257_258dup
n.392_393dup
c.141_142dup (p.Asn48ArgfsTer?)
c.131_132dup
c.443-3615_443-3614dup (n.443-3615_443-3614dup)
c.*250_*251dup (n.*250_*251dup)
c.114_115dup (p.Asn39ArgfsTer?)
c.450_451dup (p.Asn151ArgfsTer?)
6g.31933705A>CCA363496117C2c.352A>C (p.Asn118His)
c.169A>C (p.Asn57His)
c.538A>C (p.Asn180His)
c.33A>C (p.Arg11=)
c.133A>C (p.Asn45His)
n.258A>C
n.393A>C
c.142A>C (p.Asn48His)
c.132A>C
c.443-3614A>C (n.443-3614A>C)
c.*251A>C (n.*251A>C)
c.115A>C (p.Asn39His)
c.451A>C (p.Asn151His)
6g.31933705A>GCA363496120C2c.352A>G (p.Asn118Asp)
c.169A>G (p.Asn57Asp)
c.538A>G (p.Asn180Asp)
c.33A>G (p.Arg11=)
c.133A>G (p.Asn45Asp)
n.258A>G
n.393A>G
c.142A>G (p.Asn48Asp)
c.132A>G
c.443-3614A>G (n.443-3614A>G)
c.*251A>G (n.*251A>G)
c.115A>G (p.Asn39Asp)
c.451A>G (p.Asn151Asp)
6g.31933705A>TCA363496122C2c.352A>T (p.Asn118Tyr)
c.169A>T (p.Asn57Tyr)
c.538A>T (p.Asn180Tyr)
c.33A>T (p.Arg11=)
c.133A>T (p.Asn45Tyr)
n.258A>T
n.393A>T
c.142A>T (p.Asn48Tyr)
c.132A>T
c.443-3614A>T (n.443-3614A>T)
c.*251A>T (n.*251A>T)
c.115A>T (p.Asn39Tyr)
c.451A>T (p.Asn151Tyr)
 gnomAD v4
6g.31933706A>CCA363496127C2c.353A>C (p.Asn118Thr)
c.170A>C (p.Asn57Thr)
c.539A>C (p.Asn180Thr)
c.34A>C (p.Ile12Leu)
c.134A>C (p.Asn45Thr)
n.259A>C
n.394A>C
c.143A>C (p.Asn48Thr)
c.133A>C
c.443-3613A>C (n.443-3613A>C)
c.*252A>C (n.*252A>C)
c.116A>C (p.Asn39Thr)
c.452A>C (p.Asn151Thr)
6g.31933706A>GCA363496130C2c.353A>G (p.Asn118Ser)
c.170A>G (p.Asn57Ser)
c.539A>G (p.Asn180Ser)
c.34A>G (p.Ile12Val)
c.134A>G (p.Asn45Ser)
n.259A>G
n.394A>G
c.143A>G (p.Asn48Ser)
c.133A>G
c.443-3613A>G (n.443-3613A>G)
c.*252A>G (n.*252A>G)
c.116A>G (p.Asn39Ser)
c.452A>G (p.Asn151Ser)
 gnomAD v4
6g.31933706A>TCA363496133C2c.353A>T (p.Asn118Ile)
c.170A>T (p.Asn57Ile)
c.539A>T (p.Asn180Ile)
c.34A>T (p.Ile12Phe)
c.134A>T (p.Asn45Ile)
n.259A>T
n.394A>T
c.143A>T (p.Asn48Ile)
c.133A>T
c.443-3613A>T (n.443-3613A>T)
c.*252A>T (n.*252A>T)
c.116A>T (p.Asn39Ile)
c.452A>T (p.Asn151Ile)
6g.31933707T>ACA363496141C2c.354T>A (p.Asn118Lys)
c.171T>A (p.Asn57Lys)
c.540T>A (p.Asn180Lys)
c.35T>A (p.Ile12Asn)
c.135T>A (p.Asn45Lys)
n.260T>A
n.395T>A
c.144T>A (p.Asn48Lys)
c.134T>A
c.443-3612T>A (n.443-3612T>A)
c.*253T>A (n.*253T>A)
c.117T>A (p.Asn39Lys)
c.453T>A (p.Asn151Lys)
6g.31933707T>CCA363496136C2c.354T>C (p.Asn118=)
c.171T>C (p.Asn57=)
c.540T>C (p.Asn180=)
c.35T>C (p.Ile12Thr)
c.135T>C (p.Asn45=)
n.260T>C
n.395T>C
c.144T>C (p.Asn48=)
c.134T>C
c.443-3612T>C (n.443-3612T>C)
c.*253T>C (n.*253T>C)
c.117T>C (p.Asn39=)
c.453T>C (p.Asn151=)
6g.31933707T>GCA363496138C2c.354T>G (p.Asn118Lys)
c.171T>G (p.Asn57Lys)
c.540T>G (p.Asn180Lys)
c.35T>G (p.Ile12Ser)
c.135T>G (p.Asn45Lys)
n.260T>G
n.395T>G
c.144T>G (p.Asn48Lys)
c.134T>G
c.443-3612T>G (n.443-3612T>G)
c.*253T>G (n.*253T>G)
c.117T>G (p.Asn39Lys)
c.453T>G (p.Asn151Lys)
6g.31933708C>ACA363496142C2c.355C>A (p.Leu119Ile)
c.172C>A (p.Leu58Ile)
c.541C>A (p.Leu181Ile)
c.36C>A (p.Ile12=)
c.136C>A (p.Leu46Ile)
n.261C>A
n.396C>A
c.145C>A (p.Leu49Ile)
c.135C>A
c.443-3611C>A (n.443-3611C>A)
c.*254C>A (n.*254C>A)
c.118C>A (p.Leu40Ile)
c.454C>A (p.Leu152Ile)
6g.31933708C>GCA363496143C2c.355C>G (p.Leu119Val)
c.172C>G (p.Leu58Val)
c.541C>G (p.Leu181Val)
c.36C>G (p.Ile12Met)
c.136C>G (p.Leu46Val)
n.261C>G
n.396C>G
c.145C>G (p.Leu49Val)
c.135C>G
c.443-3611C>G (n.443-3611C>G)
c.*254C>G (n.*254C>G)
c.118C>G (p.Leu40Val)
c.454C>G (p.Leu152Val)
6g.31933708C>TCA363496144C2c.355C>T (p.Leu119Phe)
c.172C>T (p.Leu58Phe)
c.541C>T (p.Leu181Phe)
c.36C>T (p.Ile12=)
c.136C>T (p.Leu46Phe)
n.261C>T
n.396C>T
c.145C>T (p.Leu49Phe)
c.135C>T
c.443-3611C>T (n.443-3611C>T)
c.*254C>T (n.*254C>T)
c.118C>T (p.Leu40Phe)
c.454C>T (p.Leu152Phe)
 gnomAD v4
6g.31933709T>ACA363496145C2c.356T>A (p.Leu119His)
c.173T>A (p.Leu58His)
c.542T>A (p.Leu181His)
c.37T>A (p.Leu13Met)
c.137T>A (p.Leu46His)
n.262T>A
n.397T>A
c.146T>A (p.Leu49His)
c.136T>A
c.443-3610T>A (n.443-3610T>A)
c.*255T>A (n.*255T>A)
c.119T>A (p.Leu40His)
c.455T>A (p.Leu152His)
6g.31933709T>CCA363496148C2c.356T>C (p.Leu119Pro)
c.173T>C (p.Leu58Pro)
c.542T>C (p.Leu181Pro)
c.37T>C (p.Leu13=)
c.137T>C (p.Leu46Pro)
n.262T>C
n.397T>C
c.146T>C (p.Leu49Pro)
c.136T>C
c.443-3610T>C (n.443-3610T>C)
c.*255T>C (n.*255T>C)
c.119T>C (p.Leu40Pro)
c.455T>C (p.Leu152Pro)
6g.31933709T>GCA363496150C2c.356T>G (p.Leu119Arg)
c.173T>G (p.Leu58Arg)
c.542T>G (p.Leu181Arg)
c.37T>G (p.Leu13Val)
c.137T>G (p.Leu46Arg)
n.262T>G
n.397T>G
c.146T>G (p.Leu49Arg)
c.136T>G
c.443-3610T>G (n.443-3610T>G)
c.*255T>G (n.*255T>G)
c.119T>G (p.Leu40Arg)
c.455T>G (p.Leu152Arg)
 gnomAD v4
6g.31933710T>ACA363496156C2c.357T>A (p.Leu119=)
c.174T>A (p.Leu58=)
c.543T>A (p.Leu181=)
c.38T>A (p.Leu13Ter)
c.138T>A (p.Leu46=)
n.263T>A
n.398T>A
c.147T>A (p.Leu49=)
c.137T>A
c.443-3609T>A (n.443-3609T>A)
c.*256T>A (n.*256T>A)
c.120T>A (p.Leu40=)
c.456T>A (p.Leu152=)
6g.31933710T>CCA363496157C2c.357T>C (p.Leu119=)
c.174T>C (p.Leu58=)
c.543T>C (p.Leu181=)
c.38T>C (p.Leu13Ser)
c.138T>C (p.Leu46=)
n.263T>C
n.398T>C
c.147T>C (p.Leu49=)
c.137T>C
c.443-3609T>C (n.443-3609T>C)
c.*256T>C (n.*256T>C)
c.120T>C (p.Leu40=)
c.456T>C (p.Leu152=)
6g.31933710T>GCA363496153C2c.357T>G (p.Leu119=)
c.174T>G (p.Leu58=)
c.543T>G (p.Leu181=)
c.38T>G (p.Leu13Trp)
c.138T>G (p.Leu46=)
n.263T>G
n.398T>G
c.147T>G (p.Leu49=)
c.137T>G
c.443-3609T>G (n.443-3609T>G)
c.*256T>G (n.*256T>G)
c.120T>G (p.Leu40=)
c.456T>G (p.Leu152=)
 gnomAD v4
6g.31933712_31933713dupCA2678069506C2c.359_360dup (p.Leu121CysfsTer?)
c.176_177dup (p.Leu60CysfsTer?)
c.545_546dup (p.Leu183CysfsTer?)
c.40_41dup (p.Ser15AlafsTer29)
c.140_141dup (p.Leu48CysfsTer?)
n.265_266dup
n.400_401dup
c.149_150dup (p.Leu51CysfsTer?)
c.139_140dup
c.40_41dup (p.Ser15AlafsTer?)
c.443-3607_443-3606dup (n.443-3607_443-3606dup)
c.*258_*259dup (n.*258_*259dup)
c.122_123dup (p.Leu42CysfsTer?)
c.458_459dup (p.Leu154CysfsTer?)
 gnomAD v4
6g.31933711G>ACA363496163C2c.358G>A (p.Val120Met)
c.175G>A (p.Val59Met)
c.544G>A (p.Val182Met)
c.39G>A (p.Leu13=)
c.139G>A (p.Val47Met)
n.264G>A
n.399G>A
c.148G>A (p.Val50Met)
c.138G>A
c.443-3608G>A (n.443-3608G>A)
c.*257G>A (n.*257G>A)
c.121G>A (p.Val41Met)
c.457G>A (p.Val153Met)
 gnomAD v4
6g.31933711G>CCA363496161C2c.358G>C (p.Val120Leu)
c.175G>C (p.Val59Leu)
c.544G>C (p.Val182Leu)
c.39G>C (p.Leu13Phe)
c.139G>C (p.Val47Leu)
n.264G>C
n.399G>C
c.148G>C (p.Val50Leu)
c.138G>C
c.443-3608G>C (n.443-3608G>C)
c.*257G>C (n.*257G>C)
c.121G>C (p.Val41Leu)
c.457G>C (p.Val153Leu)
6g.31933711G>TCA363496166C2c.358G>T (p.Val120Leu)
c.175G>T (p.Val59Leu)
c.544G>T (p.Val182Leu)
c.39G>T (p.Leu13Phe)
c.139G>T (p.Val47Leu)
n.264G>T
n.399G>T
c.148G>T (p.Val50Leu)
c.138G>T
c.443-3608G>T (n.443-3608G>T)
c.*257G>T (n.*257G>T)
c.121G>T (p.Val41Leu)
c.457G>T (p.Val153Leu)
6g.31933712T>ACA363496169C2c.359T>A (p.Val120Glu)
c.176T>A (p.Val59Glu)
c.545T>A (p.Val182Glu)
c.40T>A (p.Cys14Ser)
c.140T>A (p.Val47Glu)
n.265T>A
n.400T>A
c.149T>A (p.Val50Glu)
c.139T>A
c.443-3607T>A (n.443-3607T>A)
c.*258T>A (n.*258T>A)
c.122T>A (p.Val41Glu)
c.458T>A (p.Val153Glu)
6g.31933712T>CCA363496172C2c.359T>C (p.Val120Ala)
c.176T>C (p.Val59Ala)
c.545T>C (p.Val182Ala)
c.40T>C (p.Cys14Arg)
c.140T>C (p.Val47Ala)
n.265T>C
n.400T>C
c.149T>C (p.Val50Ala)
c.139T>C
c.443-3607T>C (n.443-3607T>C)
c.*258T>C (n.*258T>C)
c.122T>C (p.Val41Ala)
c.458T>C (p.Val153Ala)
6g.31933712T>GCA363496170C2c.359T>G (p.Val120Gly)
c.176T>G (p.Val59Gly)
c.545T>G (p.Val182Gly)
c.40T>G (p.Cys14Gly)
c.140T>G (p.Val47Gly)
n.265T>G
n.400T>G
c.149T>G (p.Val50Gly)
c.139T>G
c.443-3607T>G (n.443-3607T>G)
c.*258T>G (n.*258T>G)
c.122T>G (p.Val41Gly)
c.458T>G (p.Val153Gly)
 gnomAD v4
6g.31933713G>ACA363496174C2c.360G>A (p.Val120=)
c.177G>A (p.Val59=)
c.546G>A (p.Val182=)
c.41G>A (p.Cys14Tyr)
c.141G>A (p.Val47=)
n.266G>A
n.401G>A
c.150G>A (p.Val50=)
c.140G>A
c.443-3606G>A (n.443-3606G>A)
c.*259G>A (n.*259G>A)
c.123G>A (p.Val41=)
c.459G>A (p.Val153=)
6g.31933713G>CCA363496177C2c.360G>C (p.Val120=)
c.177G>C (p.Val59=)
c.546G>C (p.Val182=)
c.41G>C (p.Cys14Ser)
c.141G>C (p.Val47=)
n.266G>C
n.401G>C
c.150G>C (p.Val50=)
c.140G>C
c.443-3606G>C (n.443-3606G>C)
c.*259G>C (n.*259G>C)
c.123G>C (p.Val41=)
c.459G>C (p.Val153=)
6g.31933713G=CA1619369823C2c.360G= (p.Val120=)
c.177G= (p.Val59=)
c.546G= (p.Val182=)
c.41G= (p.Cys14=)
c.141G= (p.Val47=)
n.266G=
n.401G=
c.150G= (p.Val50=)
c.140G=
c.443-3606G= (n.443-3606G=)
c.*259G= (n.*259G=)
c.123G= (p.Val41=)
c.459G= (p.Val153=)
6g.31933713G>TCA363496179C2c.360G>T (p.Val120=)
c.177G>T (p.Val59=)
c.546G>T (p.Val182=)
c.41G>T (p.Cys14Phe)
c.141G>T (p.Val47=)
n.266G>T
n.401G>T
c.150G>T (p.Val50=)
c.140G>T
c.443-3606G>T (n.443-3606G>T)
c.*259G>T (n.*259G>T)
c.123G>T (p.Val41=)
c.459G>T (p.Val153=)
 dbSNP gnomAD v2
6g.31933714C>ACA363496182C2c.361C>A (p.Leu121Ile)
c.178C>A (p.Leu60Ile)
c.547C>A (p.Leu183Ile)
c.42C>A (p.Cys14Ter)
c.142C>A (p.Leu48Ile)
n.267C>A
n.402C>A
c.151C>A (p.Leu51Ile)
c.141C>A
c.443-3605C>A (n.443-3605C>A)
c.*260C>A (n.*260C>A)
c.124C>A (p.Leu42Ile)
c.460C>A (p.Leu154Ile)
6g.31933714C>GCA363496184C2c.361C>G (p.Leu121Val)
c.178C>G (p.Leu60Val)
c.547C>G (p.Leu183Val)
c.42C>G (p.Cys14Trp)
c.142C>G (p.Leu48Val)
n.267C>G
n.402C>G
c.151C>G (p.Leu51Val)
c.141C>G
c.443-3605C>G (n.443-3605C>G)
c.*260C>G (n.*260C>G)
c.124C>G (p.Leu42Val)
c.460C>G (p.Leu154Val)
6g.31933714C>TCA363496186C2c.361C>T (p.Leu121Phe)
c.178C>T (p.Leu60Phe)
c.547C>T (p.Leu183Phe)
c.42C>T (p.Cys14=)
c.142C>T (p.Leu48Phe)
n.267C>T
n.402C>T
c.151C>T (p.Leu51Phe)
c.141C>T
c.443-3605C>T (n.443-3605C>T)
c.*260C>T (n.*260C>T)
c.124C>T (p.Leu42Phe)
c.460C>T (p.Leu154Phe)
6g.31933715T>ACA363496191C2c.362T>A (p.Leu121His)
c.179T>A (p.Leu60His)
c.548T>A (p.Leu183His)
c.43T>A (p.Ser15Thr)
c.143T>A (p.Leu48His)
n.268T>A
n.403T>A
c.152T>A (p.Leu51His)
c.142T>A
c.443-3604T>A (n.443-3604T>A)
c.*261T>A (n.*261T>A)
c.125T>A (p.Leu42His)
c.461T>A (p.Leu154His)
6g.31933715T>CCA363496193C2c.362T>C (p.Leu121Pro)
c.179T>C (p.Leu60Pro)
c.548T>C (p.Leu183Pro)
c.43T>C (p.Ser15Pro)
c.143T>C (p.Leu48Pro)
n.268T>C
n.403T>C
c.152T>C (p.Leu51Pro)
c.142T>C
c.443-3604T>C (n.443-3604T>C)
c.*261T>C (n.*261T>C)
c.125T>C (p.Leu42Pro)
c.461T>C (p.Leu154Pro)
6g.31933715T>GCA363496195C2c.362T>G (p.Leu121Arg)
c.179T>G (p.Leu60Arg)
c.548T>G (p.Leu183Arg)
c.43T>G (p.Ser15Ala)
c.143T>G (p.Leu48Arg)
n.268T>G
n.403T>G
c.152T>G (p.Leu51Arg)
c.142T>G
c.443-3604T>G (n.443-3604T>G)
c.*261T>G (n.*261T>G)
c.125T>G (p.Leu42Arg)
c.461T>G (p.Leu154Arg)
6g.31933716C>ACA3727425C2c.363C>A (p.Leu121=)
c.180C>A (p.Leu60=)
c.549C>A (p.Leu183=)
c.44C>A (p.Ser15Ter)
c.144C>A (p.Leu48=)
n.269C>A
n.404C>A
c.153C>A (p.Leu51=)
c.143C>A
c.443-3603C>A (n.443-3603C>A)
c.*262C>A (n.*262C>A)
c.126C>A (p.Leu42=)
c.462C>A (p.Leu154=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31933716C=CA1619369824C2c.363C= (p.Leu121=)
c.180C= (p.Leu60=)
c.549C= (p.Leu183=)
c.44C= (p.Ser15=)
c.144C= (p.Leu48=)
n.269C=
n.404C=
c.153C= (p.Leu51=)
c.143C=
c.443-3603C= (n.443-3603C=)
c.*262C= (n.*262C=)
c.126C= (p.Leu42=)
c.462C= (p.Leu154=)
6g.31933716C>GCA363496200C2c.363C>G (p.Leu121=)
c.180C>G (p.Leu60=)
c.549C>G (p.Leu183=)
c.44C>G (p.Ser15Ter)
c.144C>G (p.Leu48=)
n.269C>G
n.404C>G
c.153C>G (p.Leu51=)
c.143C>G
c.443-3603C>G (n.443-3603C>G)
c.*262C>G (n.*262C>G)
c.126C>G (p.Leu42=)
c.462C>G (p.Leu154=)
6g.31933716C>TCA363496203C2c.363C>T (p.Leu121=)
c.180C>T (p.Leu60=)
c.549C>T (p.Leu183=)
c.44C>T (p.Ser15Leu)
c.144C>T (p.Leu48=)
n.269C>T
n.404C>T
c.153C>T (p.Leu51=)
c.143C>T
c.443-3603C>T (n.443-3603C>T)
c.*262C>T (n.*262C>T)
c.126C>T (p.Leu42=)
c.462C>T (p.Leu154=)
6g.31933717A=CA1619369825C2c.364A= (p.Thr122=)
c.181A= (p.Thr61=)
c.550A= (p.Thr184=)
c.45A= (p.Ser15=)
c.145A= (p.Thr49=)
n.270A=
n.405A=
c.154A= (p.Thr52=)
c.144A=
c.443-3602A= (n.443-3602A=)
c.*263A= (n.*263A=)
c.127A= (p.Thr43=)
c.463A= (p.Thr155=)
6g.31933717A>CCA363496210C2c.364A>C (p.Thr122Pro)
c.181A>C (p.Thr61Pro)
c.550A>C (p.Thr184Pro)
c.45A>C (p.Ser15=)
c.145A>C (p.Thr49Pro)
n.270A>C
n.405A>C
c.154A>C (p.Thr52Pro)
c.144A>C
c.443-3602A>C (n.443-3602A>C)
c.*263A>C (n.*263A>C)
c.127A>C (p.Thr43Pro)
c.463A>C (p.Thr155Pro)
6g.31933717A>GCA363496215C2c.364A>G (p.Thr122Ala)
c.181A>G (p.Thr61Ala)
c.550A>G (p.Thr184Ala)
c.45A>G (p.Ser15=)
c.145A>G (p.Thr49Ala)
n.270A>G
n.405A>G
c.154A>G (p.Thr52Ala)
c.144A>G
c.443-3602A>G (n.443-3602A>G)
c.*263A>G (n.*263A>G)
c.127A>G (p.Thr43Ala)
c.463A>G (p.Thr155Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.31933717A>TCA363496213C2c.364A>T (p.Thr122Ser)
c.181A>T (p.Thr61Ser)
c.550A>T (p.Thr184Ser)
c.45A>T (p.Ser15=)
c.145A>T (p.Thr49Ser)
n.270A>T
n.405A>T
c.154A>T (p.Thr52Ser)
c.144A>T
c.443-3602A>T (n.443-3602A>T)
c.*263A>T (n.*263A>T)
c.127A>T (p.Thr43Ser)
c.463A>T (p.Thr155Ser)
6g.31933718C>ACA363496219C2c.365C>A (p.Thr122Lys)
c.182C>A (p.Thr61Lys)
c.551C>A (p.Thr184Lys)
c.46C>A (p.Arg16=)
c.146C>A (p.Thr49Lys)
n.271C>A
n.406C>A
c.155C>A (p.Thr52Lys)
c.145C>A
c.443-3601C>A (n.443-3601C>A)
c.*264C>A (n.*264C>A)
c.128C>A (p.Thr43Lys)
c.464C>A (p.Thr155Lys)
6g.31933718C=CA1619369826C2c.365C= (p.Thr122=)
c.182C= (p.Thr61=)
c.551C= (p.Thr184=)
c.46C= (p.Arg16=)
c.146C= (p.Thr49=)
n.271C=
n.406C=
c.155C= (p.Thr52=)
c.145C=
c.443-3601C= (n.443-3601C=)
c.*264C= (n.*264C=)
c.128C= (p.Thr43=)
c.464C= (p.Thr155=)
6g.31933718C>GCA363496222C2c.365C>G (p.Thr122Arg)
c.182C>G (p.Thr61Arg)
c.551C>G (p.Thr184Arg)
c.46C>G (p.Arg16Gly)
c.146C>G (p.Thr49Arg)
n.271C>G
n.406C>G
c.155C>G (p.Thr52Arg)
c.145C>G
c.443-3601C>G (n.443-3601C>G)
c.*264C>G (n.*264C>G)
c.128C>G (p.Thr43Arg)
c.464C>G (p.Thr155Arg)
6g.31933718C>TCA3727426C2c.365C>T (p.Thr122Met)
c.182C>T (p.Thr61Met)
c.551C>T (p.Thr184Met)
c.46C>T (p.Arg16Trp)
c.146C>T (p.Thr49Met)
n.271C>T
n.406C>T
c.155C>T (p.Thr52Met)
c.145C>T
c.443-3601C>T (n.443-3601C>T)
c.*264C>T (n.*264C>T)
c.128C>T (p.Thr43Met)
c.464C>T (p.Thr155Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.31933718_31933719delCA2578572144C2c.365_366del (p.Thr122ArgfsTer27)
c.182_183del (p.Thr61ArgfsTer27)
c.551_552del (p.Thr184ArgfsTer27)
c.46_47del (p.Arg16GlyfsTer?)
c.146_147del (p.Thr49ArgfsTer27)
n.271_272del
n.406_407del
c.155_156del (p.Thr52ArgfsTer27)
c.145_146del
c.46_47del (p.Arg16GlyfsTer26)
c.443-3601_443-3600del (n.443-3601_443-3600del)
c.*264_*265del (n.*264_*265del)
c.128_129del (p.Thr43ArgfsTer27)
c.464_465del (p.Thr155ArgfsTer27)
6g.31933718_31933722delCA2678069508C2c.365_369del (p.Thr122IlefsTer26)
c.182_186del (p.Thr61IlefsTer26)
c.551_555del (p.Thr184IlefsTer26)
c.46_50del (p.Arg16SerfsTer?)
c.146_150del (p.Thr49IlefsTer26)
n.271_275del
n.406_410del
c.155_159del (p.Thr52IlefsTer26)
c.145_149del
c.46_50del (p.Arg16SerfsTer25)
c.443-3601_443-3597del (n.443-3601_443-3597del)
c.*264_*268del (n.*264_*268del)
c.128_132del (p.Thr43IlefsTer26)
c.464_468del (p.Thr155IlefsTer26)
 gnomAD v4
6g.31933719G>ACA363496226C2c.366G>A (p.Thr122=)
c.183G>A (p.Thr61=)
c.552G>A (p.Thr184=)
c.47G>A (p.Arg16Gln)
c.147G>A (p.Thr49=)
n.272G>A
n.407G>A
c.156G>A (p.Thr52=)
c.146G>A
c.443-3600G>A (n.443-3600G>A)
c.*265G>A (n.*265G>A)
c.129G>A (p.Thr43=)
c.465G>A (p.Thr155=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.31933719G>CCA363496229C2c.366G>C (p.Thr122=)
c.183G>C (p.Thr61=)
c.552G>C (p.Thr184=)
c.47G>C (p.Arg16Pro)
c.147G>C (p.Thr49=)
n.272G>C
n.407G>C
c.156G>C (p.Thr52=)
c.146G>C
c.443-3600G>C (n.443-3600G>C)
c.*265G>C (n.*265G>C)
c.129G>C (p.Thr43=)
c.465G>C (p.Thr155=)
 gnomAD v4
6g.31933719G=CA1619369827C2c.366G= (p.Thr122=)
c.183G= (p.Thr61=)
c.552G= (p.Thr184=)
c.47G= (p.Arg16=)
c.147G= (p.Thr49=)
n.272G=
n.407G=
c.156G= (p.Thr52=)
c.146G=
c.443-3600G= (n.443-3600G=)
c.*265G= (n.*265G=)
c.129G= (p.Thr43=)
c.465G= (p.Thr155=)
6g.31933719G>TCA363496232C2c.366G>T (p.Thr122=)
c.183G>T (p.Thr61=)
c.552G>T (p.Thr184=)
c.47G>T (p.Arg16Leu)
c.147G>T (p.Thr49=)
n.272G>T
n.407G>T
c.156G>T (p.Thr52=)
c.146G>T
c.443-3600G>T (n.443-3600G>T)
c.*265G>T (n.*265G>T)
c.129G>T (p.Thr43=)
c.465G>T (p.Thr155=)
 dbSNP
6g.31933720G>ACA363496236C2c.367G>A (p.Gly123Arg)
c.184G>A (p.Gly62Arg)
c.553G>A (p.Gly185Arg)
c.48G>A (p.Arg16=)
c.148G>A (p.Gly50Arg)
n.273G>A
n.408G>A
c.157G>A (p.Gly53Arg)
c.147G>A
c.443-3599G>A (n.443-3599G>A)
c.*266G>A (n.*266G>A)
c.130G>A (p.Gly44Arg)
c.466G>A (p.Gly156Arg)
6g.31933720G>CCA363496238C2c.367G>C (p.Gly123Arg)
c.184G>C (p.Gly62Arg)
c.553G>C (p.Gly185Arg)
c.48G>C (p.Arg16=)
c.148G>C (p.Gly50Arg)
n.273G>C
n.408G>C
c.157G>C (p.Gly53Arg)
c.147G>C
c.443-3599G>C (n.443-3599G>C)
c.*266G>C (n.*266G>C)
c.130G>C (p.Gly44Arg)
c.466G>C (p.Gly156Arg)
6g.31933720G>TCA363496240C2c.367G>T (p.Gly123Trp)
c.184G>T (p.Gly62Trp)
c.553G>T (p.Gly185Trp)
c.48G>T (p.Arg16=)
c.148G>T (p.Gly50Trp)
n.273G>T
n.408G>T
c.157G>T (p.Gly53Trp)
c.147G>T
c.443-3599G>T (n.443-3599G>T)
c.*266G>T (n.*266G>T)
c.130G>T (p.Gly44Trp)
c.466G>T (p.Gly156Trp)
6g.31933721G>ACA363496248C2c.368G>A (p.Gly123Glu)
c.185G>A (p.Gly62Glu)
c.554G>A (p.Gly185Glu)
c.49G>A (p.Gly17Ser)
c.149G>A (p.Gly50Glu)
n.274G>A
n.409G>A
c.158G>A (p.Gly53Glu)
c.148G>A
c.443-3598G>A (n.443-3598G>A)
c.*267G>A (n.*267G>A)
c.131G>A (p.Gly44Glu)
c.467G>A (p.Gly156Glu)
 COSMIC
6g.31933721G>CCA363496245C2c.368G>C (p.Gly123Ala)
c.185G>C (p.Gly62Ala)
c.554G>C (p.Gly185Ala)
c.49G>C (p.Gly17Arg)
c.149G>C (p.Gly50Ala)
n.274G>C
n.409G>C
c.158G>C (p.Gly53Ala)
c.148G>C
c.443-3598G>C (n.443-3598G>C)
c.*267G>C (n.*267G>C)
c.131G>C (p.Gly44Ala)
c.467G>C (p.Gly156Ala)
 gnomAD v4
6g.31933721G>TCA363496243C2c.368G>T (p.Gly123Val)
c.185G>T (p.Gly62Val)
c.554G>T (p.Gly185Val)
c.49G>T (p.Gly17Cys)
c.149G>T (p.Gly50Val)
n.274G>T
n.409G>T
c.158G>T (p.Gly53Val)
c.148G>T
c.443-3598G>T (n.443-3598G>T)
c.*267G>T (n.*267G>T)
c.131G>T (p.Gly44Val)
c.467G>T (p.Gly156Val)
6g.31933722G>ACA363496255C2c.369G>A (p.Gly123=)
c.186G>A (p.Gly62=)
c.555G>A (p.Gly185=)
c.50G>A (p.Gly17Asp)
c.150G>A (p.Gly50=)
n.275G>A
n.410G>A
c.159G>A (p.Gly53=)
c.149G>A
c.443-3597G>A (n.443-3597G>A)
c.*268G>A (n.*268G>A)
c.132G>A (p.Gly44=)
c.468G>A (p.Gly156=)
6g.31933722G>CCA363496259C2c.369G>C (p.Gly123=)
c.186G>C (p.Gly62=)
c.555G>C (p.Gly185=)
c.50G>C (p.Gly17Ala)
c.150G>C (p.Gly50=)
n.275G>C
n.410G>C
c.159G>C (p.Gly53=)
c.149G>C
c.443-3597G>C (n.443-3597G>C)
c.*268G>C (n.*268G>C)
c.132G>C (p.Gly44=)
c.468G>C (p.Gly156=)
6g.31933722G>TCA363496262C2c.369G>T (p.Gly123=)
c.186G>T (p.Gly62=)
c.555G>T (p.Gly185=)
c.50G>T (p.Gly17Val)
c.150G>T (p.Gly50=)
n.275G>T
n.410G>T
c.159G>T (p.Gly53=)
c.149G>T
c.443-3597G>T (n.443-3597G>T)
c.*268G>T (n.*268G>T)
c.132G>T (p.Gly44=)
c.468G>T (p.Gly156=)
6g.31933723T>ACA363496264C2c.370T>A (p.Ser124Thr)
c.187T>A (p.Ser63Thr)
c.556T>A (p.Ser186Thr)
c.51T>A (p.Gly17=)
c.151T>A (p.Ser51Thr)
n.276T>A
n.411T>A
c.160T>A (p.Ser54Thr)
c.150T>A
c.443-3596T>A (n.443-3596T>A)
c.*269T>A (n.*269T>A)
c.133T>A (p.Ser45Thr)
c.469T>A (p.Ser157Thr)
6g.31933723T>CCA363496265C2c.370T>C (p.Ser124Pro)
c.187T>C (p.Ser63Pro)
c.556T>C (p.Ser186Pro)
c.51T>C (p.Gly17=)
c.151T>C (p.Ser51Pro)
n.276T>C
n.411T>C
c.160T>C (p.Ser54Pro)
c.150T>C
c.443-3596T>C (n.443-3596T>C)
c.*269T>C (n.*269T>C)
c.133T>C (p.Ser45Pro)
c.469T>C (p.Ser157Pro)
 gnomAD v4
6g.31933723T>GCA363496266C2c.370T>G (p.Ser124Ala)
c.187T>G (p.Ser63Ala)
c.556T>G (p.Ser186Ala)
c.51T>G (p.Gly17=)
c.151T>G (p.Ser51Ala)
n.276T>G
n.411T>G
c.160T>G (p.Ser54Ala)
c.150T>G
c.443-3596T>G (n.443-3596T>G)
c.*269T>G (n.*269T>G)
c.133T>G (p.Ser45Ala)
c.469T>G (p.Ser157Ala)
 gnomAD v4
6g.31933724C>ACA363496269C2c.371C>A (p.Ser124Tyr)
c.188C>A (p.Ser63Tyr)
c.557C>A (p.Ser186Tyr)
c.52C>A (p.Leu18Ile)
c.152C>A (p.Ser51Tyr)
n.277C>A
n.412C>A
c.161C>A (p.Ser54Tyr)
c.151C>A
c.443-3595C>A (n.443-3595C>A)
c.*270C>A (n.*270C>A)
c.134C>A (p.Ser45Tyr)
c.470C>A (p.Ser157Tyr)
6g.31933724C=CA1619369828C2c.371C= (p.Ser124=)
c.188C= (p.Ser63=)
c.557C= (p.Ser186=)
c.52C= (p.Leu18=)
c.152C= (p.Ser51=)
n.277C=
n.412C=
c.161C= (p.Ser54=)
c.151C=
c.443-3595C= (n.443-3595C=)
c.*270C= (n.*270C=)
c.134C= (p.Ser45=)
c.470C= (p.Ser157=)
6g.31933724C>GCA363496271C2c.371C>G (p.Ser124Cys)
c.188C>G (p.Ser63Cys)
c.557C>G (p.Ser186Cys)
c.52C>G (p.Leu18Val)
c.152C>G (p.Ser51Cys)
n.277C>G
n.412C>G
c.161C>G (p.Ser54Cys)
c.151C>G
c.443-3595C>G (n.443-3595C>G)
c.*270C>G (n.*270C>G)
c.134C>G (p.Ser45Cys)
c.470C>G (p.Ser157Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.31933724C>TCA363496274C2c.371C>T (p.Ser124Phe)
c.188C>T (p.Ser63Phe)
c.557C>T (p.Ser186Phe)
c.52C>T (p.Leu18Phe)
c.152C>T (p.Ser51Phe)
n.277C>T
n.412C>T
c.161C>T (p.Ser54Phe)
c.151C>T
c.443-3595C>T (n.443-3595C>T)
c.*270C>T (n.*270C>T)
c.134C>T (p.Ser45Phe)
c.470C>T (p.Ser157Phe)
 COSMIC
6g.31933725T>ACA363496280C2c.372T>A (p.Ser124=)
c.189T>A (p.Ser63=)
c.558T>A (p.Ser186=)
c.53T>A (p.Leu18His)
c.153T>A (p.Ser51=)
n.278T>A
n.413T>A
c.162T>A (p.Ser54=)
c.152T>A
c.443-3594T>A (n.443-3594T>A)
c.*271T>A (n.*271T>A)
c.135T>A (p.Ser45=)
c.471T>A (p.Ser157=)
6g.31933725T>CCA363496283C2c.372T>C (p.Ser124=)
c.189T>C (p.Ser63=)
c.558T>C (p.Ser186=)
c.53T>C (p.Leu18Pro)
c.153T>C (p.Ser51=)
n.278T>C
n.413T>C
c.162T>C (p.Ser54=)
c.152T>C
c.443-3594T>C (n.443-3594T>C)
c.*271T>C (n.*271T>C)
c.135T>C (p.Ser45=)
c.471T>C (p.Ser157=)
6g.31933725T>GCA363496285C2c.372T>G (p.Ser124=)
c.189T>G (p.Ser63=)
c.558T>G (p.Ser186=)
c.53T>G (p.Leu18Arg)
c.153T>G (p.Ser51=)
n.278T>G
n.413T>G
c.162T>G (p.Ser54=)
c.152T>G
c.443-3594T>G (n.443-3594T>G)
c.*271T>G (n.*271T>G)
c.135T>G (p.Ser45=)
c.471T>G (p.Ser157=)
6g.31933726T>ACA363496292C2c.373T>A (p.Ser125Thr)
c.190T>A (p.Ser64Thr)
c.559T>A (p.Ser187Thr)
c.54T>A (p.Leu18=)
c.154T>A (p.Ser52Thr)
n.279T>A
n.414T>A
c.163T>A (p.Ser55Thr)
c.153T>A
c.443-3593T>A (n.443-3593T>A)
c.*272T>A (n.*272T>A)
c.136T>A (p.Ser46Thr)
c.472T>A (p.Ser158Thr)
6g.31933726T>CCA363496287C2c.373T>C (p.Ser125Pro)
c.190T>C (p.Ser64Pro)
c.559T>C (p.Ser187Pro)
c.54T>C (p.Leu18=)
c.154T>C (p.Ser52Pro)
n.279T>C
n.414T>C
c.163T>C (p.Ser55Pro)
c.153T>C
c.443-3593T>C (n.443-3593T>C)
c.*272T>C (n.*272T>C)
c.136T>C (p.Ser46Pro)
c.472T>C (p.Ser158Pro)
6g.31933726T>GCA363496290C2c.373T>G (p.Ser125Ala)
c.190T>G (p.Ser64Ala)
c.559T>G (p.Ser187Ala)
c.54T>G (p.Leu18=)
c.154T>G (p.Ser52Ala)
n.279T>G
n.414T>G
c.163T>G (p.Ser55Ala)
c.153T>G
c.443-3593T>G (n.443-3593T>G)
c.*272T>G (n.*272T>G)
c.136T>G (p.Ser46Ala)
c.472T>G (p.Ser158Ala)
6g.31933727C>ACA363496296C2c.374C>A (p.Ser125Ter)
c.191C>A (p.Ser64Ter)
c.560C>A (p.Ser187Ter)
c.55C>A (p.Arg19=)
c.155C>A (p.Ser52Ter)
n.280C>A
n.415C>A
c.164C>A (p.Ser55Ter)
c.154C>A
c.443-3592C>A (n.443-3592C>A)
c.*273C>A (n.*273C>A)
c.137C>A (p.Ser46Ter)
c.473C>A (p.Ser158Ter)
6g.31933727C=CA1619369829C2c.374C= (p.Ser125=)
c.191C= (p.Ser64=)
c.560C= (p.Ser187=)
c.55C= (p.Arg19=)
c.155C= (p.Ser52=)
n.280C=
n.415C=
c.164C= (p.Ser55=)
c.154C=
c.443-3592C= (n.443-3592C=)
c.*273C= (n.*273C=)
c.137C= (p.Ser46=)
c.473C= (p.Ser158=)
6g.31933727C>GCA363496299C2c.374C>G (p.Ser125Trp)
c.191C>G (p.Ser64Trp)
c.560C>G (p.Ser187Trp)
c.55C>G (p.Arg19Gly)
c.155C>G (p.Ser52Trp)
n.280C>G
n.415C>G
c.164C>G (p.Ser55Trp)
c.154C>G
c.443-3592C>G (n.443-3592C>G)
c.*273C>G (n.*273C>G)
c.137C>G (p.Ser46Trp)
c.473C>G (p.Ser158Trp)
6g.31933727C>TCA3727427C2c.374C>T (p.Ser125Leu)
c.191C>T (p.Ser64Leu)
c.560C>T (p.Ser187Leu)
c.55C>T (p.Arg19Trp)
c.155C>T (p.Ser52Leu)
n.280C>T
n.415C>T
c.164C>T (p.Ser55Leu)
c.154C>T
c.443-3592C>T (n.443-3592C>T)
c.*273C>T (n.*273C>T)
c.137C>T (p.Ser46Leu)
c.473C>T (p.Ser158Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.31933728G>ACA363496307C2c.375G>A (p.Ser125=)
c.192G>A (p.Ser64=)
c.561G>A (p.Ser187=)
c.56G>A (p.Arg19Gln)
c.156G>A (p.Ser52=)
n.281G>A
n.416G>A
c.165G>A (p.Ser55=)
c.155G>A
c.443-3591G>A (n.443-3591G>A)
c.*274G>A (n.*274G>A)
c.138G>A (p.Ser46=)
c.474G>A (p.Ser158=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31933728G>CCA363496311C2c.375G>C (p.Ser125=)
c.192G>C (p.Ser64=)
c.561G>C (p.Ser187=)
c.56G>C (p.Arg19Pro)
c.156G>C (p.Ser52=)
n.281G>C
n.416G>C
c.165G>C (p.Ser55=)
c.155G>C
c.443-3591G>C (n.443-3591G>C)
c.*274G>C (n.*274G>C)
c.138G>C (p.Ser46=)
c.474G>C (p.Ser158=)
 gnomAD v4
6g.31933728G=CA1619369830C2c.375G= (p.Ser125=)
c.192G= (p.Ser64=)
c.561G= (p.Ser187=)
c.56G= (p.Arg19=)
c.156G= (p.Ser52=)
n.281G=
n.416G=
c.165G= (p.Ser55=)
c.155G=
c.443-3591G= (n.443-3591G=)
c.*274G= (n.*274G=)
c.138G= (p.Ser46=)
c.474G= (p.Ser158=)
6g.31933728G>TCA363496315C2c.375G>T (p.Ser125=)
c.192G>T (p.Ser64=)
c.561G>T (p.Ser187=)
c.56G>T (p.Arg19Leu)
c.156G>T (p.Ser52=)
n.281G>T
n.416G>T
c.165G>T (p.Ser55=)
c.155G>T
c.443-3591G>T (n.443-3591G>T)
c.*274G>T (n.*274G>T)
c.138G>T (p.Ser46=)
c.474G>T (p.Ser158=)
6g.31933729G>ACA363496319C2c.376G>A (p.Glu126Lys)
c.193G>A (p.Glu65Lys)
c.562G>A (p.Glu188Lys)
c.57G>A (p.Arg19=)
c.157G>A (p.Glu53Lys)
n.282G>A
n.417G>A
c.166G>A (p.Glu56Lys)
c.156G>A
c.443-3590G>A (n.443-3590G>A)
c.*275G>A (n.*275G>A)
c.139G>A (p.Glu47Lys)
c.475G>A (p.Glu159Lys)
6g.31933729G>CCA363496322C2c.376G>C (p.Glu126Gln)
c.193G>C (p.Glu65Gln)
c.562G>C (p.Glu188Gln)
c.57G>C (p.Arg19=)
c.157G>C (p.Glu53Gln)
n.282G>C
n.417G>C
c.166G>C (p.Glu56Gln)
c.156G>C
c.443-3590G>C (n.443-3590G>C)
c.*275G>C (n.*275G>C)
c.139G>C (p.Glu47Gln)
c.475G>C (p.Glu159Gln)
6g.31933729G>TCA363496324C2c.376G>T (p.Glu126Ter)
c.193G>T (p.Glu65Ter)
c.562G>T (p.Glu188Ter)
c.57G>T (p.Arg19=)
c.157G>T (p.Glu53Ter)
n.282G>T
n.417G>T
c.166G>T (p.Glu56Ter)
c.156G>T
c.443-3590G>T (n.443-3590G>T)
c.*275G>T (n.*275G>T)
c.139G>T (p.Glu47Ter)
c.475G>T (p.Glu159Ter)
6g.31933730A>CCA363496326C2c.377A>C (p.Glu126Ala)
c.194A>C (p.Glu65Ala)
c.563A>C (p.Glu188Ala)
c.58A>C (p.Ser20Arg)
c.158A>C (p.Glu53Ala)
n.283A>C
n.418A>C
c.167A>C (p.Glu56Ala)
c.157A>C
c.443-3589A>C (n.443-3589A>C)
c.*276A>C (n.*276A>C)
c.140A>C (p.Glu47Ala)
c.476A>C (p.Glu159Ala)
6g.31933730A>GCA363496329C2c.377A>G (p.Glu126Gly)
c.194A>G (p.Glu65Gly)
c.563A>G (p.Glu188Gly)
c.58A>G (p.Ser20Gly)
c.158A>G (p.Glu53Gly)
n.283A>G
n.418A>G
c.167A>G (p.Glu56Gly)
c.157A>G
c.443-3589A>G (n.443-3589A>G)
c.*276A>G (n.*276A>G)
c.140A>G (p.Glu47Gly)
c.476A>G (p.Glu159Gly)
6g.31933730A>TCA363496331C2c.377A>T (p.Glu126Val)
c.194A>T (p.Glu65Val)
c.563A>T (p.Glu188Val)
c.58A>T (p.Ser20Cys)
c.158A>T (p.Glu53Val)
n.283A>T
n.418A>T
c.167A>T (p.Glu56Val)
c.157A>T
c.443-3589A>T (n.443-3589A>T)
c.*276A>T (n.*276A>T)
c.140A>T (p.Glu47Val)
c.476A>T (p.Glu159Val)
6g.31933731G>ACA363496335C2c.378G>A (p.Glu126=)
c.195G>A (p.Glu65=)
c.564G>A (p.Glu188=)
c.59G>A (p.Ser20Asn)
c.159G>A (p.Glu53=)
n.284G>A
n.419G>A
c.168G>A (p.Glu56=)
c.158G>A
c.443-3588G>A (n.443-3588G>A)
c.*277G>A (n.*277G>A)
c.141G>A (p.Glu47=)
c.477G>A (p.Glu159=)
 COSMIC
6g.31933731G>CCA363496339C2c.378G>C (p.Glu126Asp)
c.195G>C (p.Glu65Asp)
c.564G>C (p.Glu188Asp)
c.59G>C (p.Ser20Thr)
c.159G>C (p.Glu53Asp)
n.284G>C
n.419G>C
c.168G>C (p.Glu56Asp)
c.158G>C
c.443-3588G>C (n.443-3588G>C)
c.*277G>C (n.*277G>C)
c.141G>C (p.Glu47Asp)
c.477G>C (p.Glu159Asp)
6g.31933731G>TCA363496334C2c.378G>T (p.Glu126Asp)
c.195G>T (p.Glu65Asp)
c.564G>T (p.Glu188Asp)
c.59G>T (p.Ser20Ile)
c.159G>T (p.Glu53Asp)
n.284G>T
n.419G>T
c.168G>T (p.Glu56Asp)
c.158G>T
c.443-3588G>T (n.443-3588G>T)
c.*277G>T (n.*277G>T)
c.141G>T (p.Glu47Asp)
c.477G>T (p.Glu159Asp)
6g.31933732C>ACA363496343C2c.379C>A (p.Arg127=)
c.196C>A (p.Arg66=)
c.565C>A (p.Arg189=)
c.60C>A (p.Ser20Arg)
c.160C>A (p.Arg54=)
n.285C>A
n.420C>A
c.169C>A (p.Arg57=)
c.159C>A
c.443-3587C>A (n.443-3587C>A)
c.*278C>A (n.*278C>A)
c.142C>A (p.Arg48=)
c.478C>A (p.Arg160=)
6g.31933732C=CA1619369831C2c.379C= (p.Arg127=)
c.196C= (p.Arg66=)
c.565C= (p.Arg189=)
c.60C= (p.Ser20=)
c.160C= (p.Arg54=)
n.285C=
n.420C=
c.169C= (p.Arg57=)
c.159C=
c.443-3587C= (n.443-3587C=)
c.*278C= (n.*278C=)
c.142C= (p.Arg48=)
c.478C= (p.Arg160=)
6g.31933732C>GCA363496345C2c.379C>G (p.Arg127Gly)
c.196C>G (p.Arg66Gly)
c.565C>G (p.Arg189Gly)
c.60C>G (p.Ser20Arg)
c.160C>G (p.Arg54Gly)
n.285C>G
n.420C>G
c.169C>G (p.Arg57Gly)
c.159C>G
c.443-3587C>G (n.443-3587C>G)
c.*278C>G (n.*278C>G)
c.142C>G (p.Arg48Gly)
c.478C>G (p.Arg160Gly)
 gnomAD v4
6g.31933732C>TCA3727428C2c.379C>T (p.Arg127Trp)
c.196C>T (p.Arg66Trp)
c.565C>T (p.Arg189Trp)
c.60C>T (p.Ser20=)
c.160C>T (p.Arg54Trp)
n.285C>T
n.420C>T
c.169C>T (p.Arg57Trp)
c.159C>T
c.443-3587C>T (n.443-3587C>T)
c.*278C>T (n.*278C>T)
c.142C>T (p.Arg48Trp)
c.478C>T (p.Arg160Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.31933733G>ACA363496354C2c.380G>A (p.Arg127Gln)
c.197G>A (p.Arg66Gln)
c.566G>A (p.Arg189Gln)
c.61G>A (p.Gly21Arg)
c.161G>A (p.Arg54Gln)
n.286G>A
n.421G>A
c.170G>A (p.Arg57Gln)
c.160G>A
c.443-3586G>A (n.443-3586G>A)
c.*279G>A (n.*279G>A)
c.143G>A (p.Arg48Gln)
c.479G>A (p.Arg160Gln)
 dbSNP gnomAD v3 gnomAD v4
6g.31933733G>CCA3727429C2c.380G>C (p.Arg127Pro)
c.197G>C (p.Arg66Pro)
c.566G>C (p.Arg189Pro)
c.61G>C (p.Gly21Arg)
c.161G>C (p.Arg54Pro)
n.286G>C
n.421G>C
c.170G>C (p.Arg57Pro)
c.160G>C
c.443-3586G>C (n.443-3586G>C)
c.*279G>C (n.*279G>C)
c.143G>C (p.Arg48Pro)
c.479G>C (p.Arg160Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31933733G=CA1619369832C2c.380G= (p.Arg127=)
c.197G= (p.Arg66=)
c.566G= (p.Arg189=)
c.61G= (p.Gly21=)
c.161G= (p.Arg54=)
n.286G=
n.421G=
c.170G= (p.Arg57=)
c.160G=
c.443-3586G= (n.443-3586G=)
c.*279G= (n.*279G=)
c.143G= (p.Arg48=)
c.479G= (p.Arg160=)
6g.31933733G>TCA363496359C2c.380G>T (p.Arg127Leu)
c.197G>T (p.Arg66Leu)
c.566G>T (p.Arg189Leu)
c.61G>T (p.Gly21Trp)
c.161G>T (p.Arg54Leu)
n.286G>T
n.421G>T
c.170G>T (p.Arg57Leu)
c.160G>T
c.443-3586G>T (n.443-3586G>T)
c.*279G>T (n.*279G>T)
c.143G>T (p.Arg48Leu)
c.479G>T (p.Arg160Leu)
6g.31933734G>ACA363496367C2c.381G>A (p.Arg127=)
c.198G>A (p.Arg66=)
c.567G>A (p.Arg189=)
c.62G>A (p.Gly21Glu)
c.162G>A (p.Arg54=)
n.287G>A
n.422G>A
c.171G>A (p.Arg57=)
c.161G>A
c.443-3585G>A (n.443-3585G>A)
c.*280G>A (n.*280G>A)
c.144G>A (p.Arg48=)
c.480G>A (p.Arg160=)
 ClinVar dbSNP
6g.31933734G>CCA363496364C2c.381G>C (p.Arg127=)
c.198G>C (p.Arg66=)
c.567G>C (p.Arg189=)
c.62G>C (p.Gly21Ala)
c.162G>C (p.Arg54=)
n.287G>C
n.422G>C
c.171G>C (p.Arg57=)
c.161G>C
c.443-3585G>C (n.443-3585G>C)
c.*280G>C (n.*280G>C)
c.144G>C (p.Arg48=)
c.480G>C (p.Arg160=)
6g.31933734G=CA1619369833C2c.381G= (p.Arg127=)
c.198G= (p.Arg66=)
c.567G= (p.Arg189=)
c.62G= (p.Gly21=)
c.162G= (p.Arg54=)
n.287G=
n.422G=
c.171G= (p.Arg57=)
c.161G=
c.443-3585G= (n.443-3585G=)
c.*280G= (n.*280G=)
c.144G= (p.Arg48=)
c.480G= (p.Arg160=)
6g.31933734G>TCA363496365C2c.381G>T (p.Arg127=)
c.198G>T (p.Arg66=)
c.567G>T (p.Arg189=)
c.62G>T (p.Gly21Val)
c.162G>T (p.Arg54=)
n.287G>T
n.422G>T
c.171G>T (p.Arg57=)
c.161G>T
c.443-3585G>T (n.443-3585G>T)
c.*280G>T (n.*280G>T)
c.144G>T (p.Arg48=)
c.480G>T (p.Arg160=)
6g.31933735G>ACA363496370C2c.382G>A (p.Glu128Lys)
c.199G>A (p.Glu67Lys)
c.568G>A (p.Glu190Lys)
c.63G>A (p.Gly21=)
c.163G>A (p.Glu55Lys)
n.288G>A
n.423G>A
c.172G>A (p.Glu58Lys)
c.162G>A
c.443-3584G>A (n.443-3584G>A)
c.*281G>A (n.*281G>A)
c.145G>A (p.Glu49Lys)
c.481G>A (p.Glu161Lys)
6g.31933735G>CCA363496371C2c.382G>C (p.Glu128Gln)
c.199G>C (p.Glu67Gln)
c.568G>C (p.Glu190Gln)
c.63G>C (p.Gly21=)
c.163G>C (p.Glu55Gln)
n.288G>C
n.423G>C
c.172G>C (p.Glu58Gln)
c.162G>C
c.443-3584G>C (n.443-3584G>C)
c.*281G>C (n.*281G>C)
c.145G>C (p.Glu49Gln)
c.481G>C (p.Glu161Gln)
 dbSNP gnomAD v3 gnomAD v4
6g.31933735G=CA1619369834C2c.382G= (p.Glu128=)
c.199G= (p.Glu67=)
c.568G= (p.Glu190=)
c.63G= (p.Gly21=)
c.163G= (p.Glu55=)
n.288G=
n.423G=
c.172G= (p.Glu58=)
c.162G=
c.443-3584G= (n.443-3584G=)
c.*281G= (n.*281G=)
c.145G= (p.Glu49=)
c.481G= (p.Glu161=)
6g.31933735G>TCA363496378C2c.382G>T (p.Glu128Ter)
c.199G>T (p.Glu67Ter)
c.568G>T (p.Glu190Ter)
c.63G>T (p.Gly21=)
c.163G>T (p.Glu55Ter)
n.288G>T
n.423G>T
c.172G>T (p.Glu58Ter)
c.162G>T
c.443-3584G>T (n.443-3584G>T)
c.*281G>T (n.*281G>T)
c.145G>T (p.Glu49Ter)
c.481G>T (p.Glu161Ter)
6g.31933736A>CCA363496388C2c.383A>C (p.Glu128Ala)
c.200A>C (p.Glu67Ala)
c.569A>C (p.Glu190Ala)
c.64A>C (p.Ser22Arg)
c.164A>C (p.Glu55Ala)
n.289A>C
n.424A>C
c.173A>C (p.Glu58Ala)
c.163A>C
c.443-3583A>C (n.443-3583A>C)
c.*282A>C (n.*282A>C)
c.146A>C (p.Glu49Ala)
c.482A>C (p.Glu161Ala)
6g.31933736A>GCA363496391C2c.383A>G (p.Glu128Gly)
c.200A>G (p.Glu67Gly)
c.569A>G (p.Glu190Gly)
c.64A>G (p.Ser22Gly)
c.164A>G (p.Glu55Gly)
n.289A>G
n.424A>G
c.173A>G (p.Glu58Gly)
c.163A>G
c.443-3583A>G (n.443-3583A>G)
c.*282A>G (n.*282A>G)
c.146A>G (p.Glu49Gly)
c.482A>G (p.Glu161Gly)
6g.31933736A>TCA363496392C2c.383A>T (p.Glu128Val)
c.200A>T (p.Glu67Val)
c.569A>T (p.Glu190Val)
c.64A>T (p.Ser22Cys)
c.164A>T (p.Glu55Val)
n.289A>T
n.424A>T
c.173A>T (p.Glu58Val)
c.163A>T
c.443-3583A>T (n.443-3583A>T)
c.*282A>T (n.*282A>T)
c.146A>T (p.Glu49Val)
c.482A>T (p.Glu161Val)
6g.31933737G>ACA363496393C2c.384G>A (p.Glu128=)
c.201G>A (p.Glu67=)
c.570G>A (p.Glu190=)
c.65G>A (p.Ser22Asn)
c.165G>A (p.Glu55=)
n.290G>A
n.425G>A
c.174G>A (p.Glu58=)
c.164G>A
c.443-3582G>A (n.443-3582G>A)
c.*283G>A (n.*283G>A)
c.147G>A (p.Glu49=)
c.483G>A (p.Glu161=)
6g.31933737G>CCA363496396C2c.384G>C (p.Glu128Asp)
c.201G>C (p.Glu67Asp)
c.570G>C (p.Glu190Asp)
c.65G>C (p.Ser22Thr)
c.165G>C (p.Glu55Asp)
n.290G>C
n.425G>C
c.174G>C (p.Glu58Asp)
c.164G>C
c.443-3582G>C (n.443-3582G>C)
c.*283G>C (n.*283G>C)
c.147G>C (p.Glu49Asp)
c.483G>C (p.Glu161Asp)
6g.31933737G>TCA363496394C2c.384G>T (p.Glu128Asp)
c.201G>T (p.Glu67Asp)
c.570G>T (p.Glu190Asp)
c.65G>T (p.Ser22Ile)
c.165G>T (p.Glu55Asp)
n.290G>T
n.425G>T
c.174G>T (p.Glu58Asp)
c.164G>T
c.443-3582G>T (n.443-3582G>T)
c.*283G>T (n.*283G>T)
c.147G>T (p.Glu49Asp)
c.483G>T (p.Glu161Asp)
6g.31933738T>ACA363496398C2c.385T>A (p.Cys129Ser)
c.202T>A (p.Cys68Ser)
c.571T>A (p.Cys191Ser)
c.66T>A (p.Ser22Arg)
c.166T>A (p.Cys56Ser)
n.291T>A
n.426T>A
c.175T>A (p.Cys59Ser)
c.165T>A
c.443-3581T>A (n.443-3581T>A)
c.*284T>A (n.*284T>A)
c.148T>A (p.Cys50Ser)
c.484T>A (p.Cys162Ser)
6g.31933738T>CCA363496399C2c.385T>C (p.Cys129Arg)
c.202T>C (p.Cys68Arg)
c.571T>C (p.Cys191Arg)
c.66T>C (p.Ser22=)
c.166T>C (p.Cys56Arg)
n.291T>C
n.426T>C
c.175T>C (p.Cys59Arg)
c.165T>C
c.443-3581T>C (n.443-3581T>C)
c.*284T>C (n.*284T>C)
c.148T>C (p.Cys50Arg)
c.484T>C (p.Cys162Arg)
 gnomAD v4
6g.31933738T>GCA363496402C2c.385T>G (p.Cys129Gly)
c.202T>G (p.Cys68Gly)
c.571T>G (p.Cys191Gly)
c.66T>G (p.Ser22Arg)
c.166T>G (p.Cys56Gly)
n.291T>G
n.426T>G
c.175T>G (p.Cys59Gly)
c.165T>G
c.443-3581T>G (n.443-3581T>G)
c.*284T>G (n.*284T>G)
c.148T>G (p.Cys50Gly)
c.484T>G (p.Cys162Gly)
6g.31933739G>ACA363496403C2c.386G>A (p.Cys129Tyr)
c.203G>A (p.Cys68Tyr)
c.572G>A (p.Cys191Tyr)
c.67G>A (p.Ala23Thr)
c.167G>A (p.Cys56Tyr)
n.292G>A
n.427G>A
c.176G>A (p.Cys59Tyr)
c.166G>A
c.443-3580G>A (n.443-3580G>A)
c.*285G>A (n.*285G>A)
c.149G>A (p.Cys50Tyr)
c.485G>A (p.Cys162Tyr)
6g.31933739G>CCA363496406C2c.386G>C (p.Cys129Ser)
c.203G>C (p.Cys68Ser)
c.572G>C (p.Cys191Ser)
c.67G>C (p.Ala23Pro)
c.167G>C (p.Cys56Ser)
n.292G>C
n.427G>C
c.176G>C (p.Cys59Ser)
c.166G>C
c.443-3580G>C (n.443-3580G>C)
c.*285G>C (n.*285G>C)
c.149G>C (p.Cys50Ser)
c.485G>C (p.Cys162Ser)
6g.31933739G>TCA363496408C2c.386G>T (p.Cys129Phe)
c.203G>T (p.Cys68Phe)
c.572G>T (p.Cys191Phe)
c.67G>T (p.Ala23Ser)
c.167G>T (p.Cys56Phe)
n.292G>T
n.427G>T
c.176G>T (p.Cys59Phe)
c.166G>T
c.443-3580G>T (n.443-3580G>T)
c.*285G>T (n.*285G>T)
c.149G>T (p.Cys50Phe)
c.485G>T (p.Cys162Phe)
6g.31933740C>ACA3727430C2c.387C>A (p.Cys129Ter)
c.204C>A (p.Cys68Ter)
c.573C>A (p.Cys191Ter)
c.68C>A (p.Ala23Asp)
c.168C>A (p.Cys56Ter)
n.293C>A
n.428C>A
c.177C>A (p.Cys59Ter)
c.167C>A
c.443-3579C>A (n.443-3579C>A)
c.*286C>A (n.*286C>A)
c.150C>A (p.Cys50Ter)
c.486C>A (p.Cys162Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31933740C=CA1619369835C2c.387C= (p.Cys129=)
c.204C= (p.Cys68=)
c.573C= (p.Cys191=)
c.68C= (p.Ala23=)
c.168C= (p.Cys56=)
n.293C=
n.428C=
c.177C= (p.Cys59=)
c.167C=
c.443-3579C= (n.443-3579C=)
c.*286C= (n.*286C=)
c.150C= (p.Cys50=)
c.486C= (p.Cys162=)
6g.31933740C>GCA136929048C2c.387C>G (p.Cys129Trp)
c.204C>G (p.Cys68Trp)
c.573C>G (p.Cys191Trp)
c.68C>G (p.Ala23Gly)
c.168C>G (p.Cys56Trp)
n.293C>G
n.428C>G
c.177C>G (p.Cys59Trp)
c.167C>G
c.443-3579C>G (n.443-3579C>G)
c.*286C>G (n.*286C>G)
c.150C>G (p.Cys50Trp)
c.486C>G (p.Cys162Trp)
 dbSNP
6g.31933740C>TCA363496413C2c.387C>T (p.Cys129=)
c.204C>T (p.Cys68=)
c.573C>T (p.Cys191=)
c.68C>T (p.Ala23Val)
c.168C>T (p.Cys56=)
n.293C>T
n.428C>T
c.177C>T (p.Cys59=)
c.167C>T
c.443-3579C>T (n.443-3579C>T)
c.*286C>T (n.*286C>T)
c.150C>T (p.Cys50=)
c.486C>T (p.Cys162=)
6g.31933741C>ACA363496417C2c.388C>A (p.Gln130Lys)
c.205C>A (p.Gln69Lys)
c.574C>A (p.Gln192Lys)
c.69C>A (p.Ala23=)
c.169C>A (p.Gln57Lys)
n.294C>A
n.429C>A
c.178C>A (p.Gln60Lys)
c.168C>A
c.443-3578C>A (n.443-3578C>A)
c.*287C>A (n.*287C>A)
c.151C>A (p.Gln51Lys)
c.487C>A (p.Gln163Lys)
6g.31933741C=CA1619369836C2c.388C= (p.Gln130=)
c.205C= (p.Gln69=)
c.574C= (p.Gln192=)
c.69C= (p.Ala23=)
c.169C= (p.Gln57=)
n.294C=
n.429C=
c.178C= (p.Gln60=)
c.168C=
c.443-3578C= (n.443-3578C=)
c.*287C= (n.*287C=)
c.151C= (p.Gln51=)
c.487C= (p.Gln163=)
6g.31933741C>GCA363496420C2c.388C>G (p.Gln130Glu)
c.205C>G (p.Gln69Glu)
c.574C>G (p.Gln192Glu)
c.69C>G (p.Ala23=)
c.169C>G (p.Gln57Glu)
n.294C>G
n.429C>G
c.178C>G (p.Gln60Glu)
c.168C>G
c.443-3578C>G (n.443-3578C>G)
c.*287C>G (n.*287C>G)
c.151C>G (p.Gln51Glu)
c.487C>G (p.Gln163Glu)
6g.31933741C>TCA363496426C2c.388C>T (p.Gln130Ter)
c.205C>T (p.Gln69Ter)
c.574C>T (p.Gln192Ter)
c.69C>T (p.Ala23=)
c.169C>T (p.Gln57Ter)
n.294C>T
n.429C>T
c.178C>T (p.Gln60Ter)
c.168C>T
c.443-3578C>T (n.443-3578C>T)
c.*287C>T (n.*287C>T)
c.151C>T (p.Gln51Ter)
c.487C>T (p.Gln163Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31933742A>CCA363496429C2c.389A>C (p.Gln130Pro)
c.206A>C (p.Gln69Pro)
c.575A>C (p.Gln192Pro)
c.70A>C (p.Arg24=)
c.170A>C (p.Gln57Pro)
n.295A>C
n.430A>C
c.179A>C (p.Gln60Pro)
c.169A>C
c.443-3577A>C (n.443-3577A>C)
c.*288A>C (n.*288A>C)
c.152A>C (p.Gln51Pro)
c.488A>C (p.Gln163Pro)
6g.31933742A>GCA363496436C2c.389A>G (p.Gln130Arg)
c.206A>G (p.Gln69Arg)
c.575A>G (p.Gln192Arg)
c.70A>G (p.Arg24Gly)
c.170A>G (p.Gln57Arg)
n.295A>G
n.430A>G
c.179A>G (p.Gln60Arg)
c.169A>G
c.443-3577A>G (n.443-3577A>G)
c.*288A>G (n.*288A>G)
c.152A>G (p.Gln51Arg)
c.488A>G (p.Gln163Arg)
 gnomAD v4
6g.31933742A>TCA363496432C2c.389A>T (p.Gln130Leu)
c.206A>T (p.Gln69Leu)
c.575A>T (p.Gln192Leu)
c.70A>T (p.Arg24Trp)
c.170A>T (p.Gln57Leu)
n.295A>T
n.430A>T
c.179A>T (p.Gln60Leu)
c.169A>T
c.443-3577A>T (n.443-3577A>T)
c.*288A>T (n.*288A>T)
c.152A>T (p.Gln51Leu)
c.488A>T (p.Gln163Leu)
6g.31933743G>ACA363496438C2c.390G>A (p.Gln130=)
c.207G>A (p.Gln69=)
c.576G>A (p.Gln192=)
c.71G>A (p.Arg24Lys)
c.171G>A (p.Gln57=)
n.296G>A
n.431G>A
c.180G>A (p.Gln60=)
c.170G>A
c.443-3576G>A (n.443-3576G>A)
c.*289G>A (n.*289G>A)
c.153G>A (p.Gln51=)
c.489G>A (p.Gln163=)
6g.31933743G>CCA363496441C2c.390G>C (p.Gln130His)
c.207G>C (p.Gln69His)
c.576G>C (p.Gln192His)
c.71G>C (p.Arg24Thr)
c.171G>C (p.Gln57His)
n.296G>C
n.431G>C
c.180G>C (p.Gln60His)
c.170G>C
c.443-3576G>C (n.443-3576G>C)
c.*289G>C (n.*289G>C)
c.153G>C (p.Gln51His)
c.489G>C (p.Gln163His)
6g.31933743G>TCA363496444C2c.390G>T (p.Gln130His)
c.207G>T (p.Gln69His)
c.576G>T (p.Gln192His)
c.71G>T (p.Arg24Met)
c.171G>T (p.Gln57His)
n.296G>T
n.431G>T
c.180G>T (p.Gln60His)
c.170G>T
c.443-3576G>T (n.443-3576G>T)
c.*289G>T (n.*289G>T)
c.153G>T (p.Gln51His)
c.489G>T (p.Gln163His)
6g.31933744G>ACA136929051C2c.391G>A (p.Gly131Ser)
c.208G>A (p.Gly70Ser)
c.577G>A (p.Gly193Ser)
c.72G>A (p.Arg24=)
c.172G>A (p.Gly58Ser)
n.297G>A
n.432G>A
c.181G>A (p.Gly61Ser)
c.171G>A
c.443-3575G>A (n.443-3575G>A)
c.*290G>A (n.*290G>A)
c.154G>A (p.Gly52Ser)
c.490G>A (p.Gly164Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31933744G>CCA363496452C2c.391G>C (p.Gly131Arg)
c.208G>C (p.Gly70Arg)
c.577G>C (p.Gly193Arg)
c.72G>C (p.Arg24Ser)
c.172G>C (p.Gly58Arg)
n.297G>C
n.432G>C
c.181G>C (p.Gly61Arg)
c.171G>C
c.443-3575G>C (n.443-3575G>C)
c.*290G>C (n.*290G>C)
c.154G>C (p.Gly52Arg)
c.490G>C (p.Gly164Arg)
6g.31933744G=CA1619369837C2c.391G= (p.Gly131=)
c.208G= (p.Gly70=)
c.577G= (p.Gly193=)
c.72G= (p.Arg24=)
c.172G= (p.Gly58=)
n.297G=
n.432G=
c.181G= (p.Gly61=)
c.171G=
c.443-3575G= (n.443-3575G=)
c.*290G= (n.*290G=)
c.154G= (p.Gly52=)
c.490G= (p.Gly164=)
6g.31933744G>TCA363496454C2c.391G>T (p.Gly131Cys)
c.208G>T (p.Gly70Cys)
c.577G>T (p.Gly193Cys)
c.72G>T (p.Arg24Ser)
c.172G>T (p.Gly58Cys)
n.297G>T
n.432G>T
c.181G>T (p.Gly61Cys)
c.171G>T
c.443-3575G>T (n.443-3575G>T)
c.*290G>T (n.*290G>T)
c.154G>T (p.Gly52Cys)
c.490G>T (p.Gly164Cys)
6g.31933745G>ACA363496456C2c.392G>A (p.Gly131Asp)
c.209G>A (p.Gly70Asp)
c.578G>A (p.Gly193Asp)
c.73G>A (p.Ala25Thr)
c.173G>A (p.Gly58Asp)
n.298G>A
n.433G>A
c.182G>A (p.Gly61Asp)
c.172G>A
c.443-3574G>A (n.443-3574G>A)
c.*291G>A (n.*291G>A)
c.155G>A (p.Gly52Asp)
c.491G>A (p.Gly164Asp)
 gnomAD v4
6g.31933745G>CCA363496461C2c.392G>C (p.Gly131Ala)
c.209G>C (p.Gly70Ala)
c.578G>C (p.Gly193Ala)
c.73G>C (p.Ala25Pro)
c.173G>C (p.Gly58Ala)
n.298G>C
n.433G>C
c.182G>C (p.Gly61Ala)
c.172G>C
c.443-3574G>C (n.443-3574G>C)
c.*291G>C (n.*291G>C)
c.155G>C (p.Gly52Ala)
c.491G>C (p.Gly164Ala)
6g.31933745G>TCA363496463C2c.392G>T (p.Gly131Val)
c.209G>T (p.Gly70Val)
c.578G>T (p.Gly193Val)
c.73G>T (p.Ala25Ser)
c.173G>T (p.Gly58Val)
n.298G>T
n.433G>T
c.182G>T (p.Gly61Val)
c.172G>T
c.443-3574G>T (n.443-3574G>T)
c.*291G>T (n.*291G>T)
c.155G>T (p.Gly52Val)
c.491G>T (p.Gly164Val)
6g.31933746C>ACA3727431C2c.393C>A (p.Gly131=)
c.210C>A (p.Gly70=)
c.579C>A (p.Gly193=)
c.74C>A (p.Ala25Glu)
c.174C>A (p.Gly58=)
n.299C>A
n.434C>A
c.183C>A (p.Gly61=)
c.173C>A
c.443-3573C>A (n.443-3573C>A)
c.*292C>A (n.*292C>A)
c.156C>A (p.Gly52=)
c.492C>A (p.Gly164=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933746C=CA1619369838C2c.393C= (p.Gly131=)
c.210C= (p.Gly70=)
c.579C= (p.Gly193=)
c.74C= (p.Ala25=)
c.174C= (p.Gly58=)
n.299C=
n.434C=
c.183C= (p.Gly61=)
c.173C=
c.443-3573C= (n.443-3573C=)
c.*292C= (n.*292C=)
c.156C= (p.Gly52=)
c.492C= (p.Gly164=)
6g.31933746C>GCA363496467C2c.393C>G (p.Gly131=)
c.210C>G (p.Gly70=)
c.579C>G (p.Gly193=)
c.74C>G (p.Ala25Gly)
c.174C>G (p.Gly58=)
n.299C>G
n.434C>G
c.183C>G (p.Gly61=)
c.173C>G
c.443-3573C>G (n.443-3573C>G)
c.*292C>G (n.*292C>G)
c.156C>G (p.Gly52=)
c.492C>G (p.Gly164=)
6g.31933746C>TCA3727432C2c.393C>T (p.Gly131=)
c.210C>T (p.Gly70=)
c.579C>T (p.Gly193=)
c.74C>T (p.Ala25Val)
c.174C>T (p.Gly58=)
n.299C>T
n.434C>T
c.183C>T (p.Gly61=)
c.173C>T
c.443-3573C>T (n.443-3573C>T)
c.*292C>T (n.*292C>T)
c.156C>T (p.Gly52=)
c.492C>T (p.Gly164=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31933747A>CCA363496476C2c.394A>C (p.Asn132His)
c.211A>C (p.Asn71His)
c.580A>C (p.Asn194His)
c.75A>C (p.Ala25=)
c.175A>C (p.Asn59His)
n.300A>C
n.435A>C
c.184A>C (p.Asn62His)
c.174A>C
c.443-3572A>C (n.443-3572A>C)
c.*293A>C (n.*293A>C)
c.157A>C (p.Asn53His)
c.493A>C (p.Asn165His)
6g.31933747A>GCA363496475C2c.394A>G (p.Asn132Asp)
c.211A>G (p.Asn71Asp)
c.580A>G (p.Asn194Asp)
c.75A>G (p.Ala25=)
c.175A>G (p.Asn59Asp)
n.300A>G
n.435A>G
c.184A>G (p.Asn62Asp)
c.174A>G
c.443-3572A>G (n.443-3572A>G)
c.*293A>G (n.*293A>G)
c.157A>G (p.Asn53Asp)
c.493A>G (p.Asn165Asp)
 ClinVar
6g.31933747A>TCA363496472C2c.394A>T (p.Asn132Tyr)
c.211A>T (p.Asn71Tyr)
c.580A>T (p.Asn194Tyr)
c.75A>T (p.Ala25=)
c.175A>T (p.Asn59Tyr)
n.300A>T
n.435A>T
c.184A>T (p.Asn62Tyr)
c.174A>T
c.443-3572A>T (n.443-3572A>T)
c.*293A>T (n.*293A>T)
c.157A>T (p.Asn53Tyr)
c.493A>T (p.Asn165Tyr)
6g.31933748A=CA1619369839C2c.395A= (p.Asn132=)
c.212A= (p.Asn71=)
c.581A= (p.Asn194=)
c.76A= (p.Thr26=)
c.176A= (p.Asn59=)
n.301A=
n.436A=
c.185A= (p.Asn62=)
c.175A=
c.443-3571A= (n.443-3571A=)
c.*294A= (n.*294A=)
c.158A= (p.Asn53=)
c.494A= (p.Asn165=)
6g.31933748A>CCA363496477C2c.395A>C (p.Asn132Thr)
c.212A>C (p.Asn71Thr)
c.581A>C (p.Asn194Thr)
c.76A>C (p.Thr26Pro)
c.176A>C (p.Asn59Thr)
n.301A>C
n.436A>C
c.185A>C (p.Asn62Thr)
c.175A>C
c.443-3571A>C (n.443-3571A>C)
c.*294A>C (n.*294A>C)
c.158A>C (p.Asn53Thr)
c.494A>C (p.Asn165Thr)
6g.31933748A>GCA363496479C2c.395A>G (p.Asn132Ser)
c.212A>G (p.Asn71Ser)
c.581A>G (p.Asn194Ser)
c.76A>G (p.Thr26Ala)
c.176A>G (p.Asn59Ser)
n.301A>G
n.436A>G
c.185A>G (p.Asn62Ser)
c.175A>G
c.443-3571A>G (n.443-3571A>G)
c.*294A>G (n.*294A>G)
c.158A>G (p.Asn53Ser)
c.494A>G (p.Asn165Ser)
 dbSNP gnomAD v3 gnomAD v4
6g.31933748A>TCA363496484C2c.395A>T (p.Asn132Ile)
c.212A>T (p.Asn71Ile)
c.581A>T (p.Asn194Ile)
c.76A>T (p.Thr26Ser)
c.176A>T (p.Asn59Ile)
n.301A>T
n.436A>T
c.185A>T (p.Asn62Ile)
c.175A>T
c.443-3571A>T (n.443-3571A>T)
c.*294A>T (n.*294A>T)
c.158A>T (p.Asn53Ile)
c.494A>T (p.Asn165Ile)
6g.31933749C>ACA363496488C2c.396C>A (p.Asn132Lys)
c.213C>A (p.Asn71Lys)
c.582C>A (p.Asn194Lys)
c.77C>A (p.Thr26Lys)
c.177C>A (p.Asn59Lys)
n.302C>A
n.437C>A
c.186C>A (p.Asn62Lys)
c.176C>A
c.443-3570C>A (n.443-3570C>A)
c.*295C>A (n.*295C>A)
c.159C>A (p.Asn53Lys)
c.495C>A (p.Asn165Lys)
6g.31933749C=CA1619369840C2c.396C= (p.Asn132=)
c.213C= (p.Asn71=)
c.582C= (p.Asn194=)
c.77C= (p.Thr26=)
c.177C= (p.Asn59=)
n.302C=
n.437C=
c.186C= (p.Asn62=)
c.176C=
c.443-3570C= (n.443-3570C=)
c.*295C= (n.*295C=)
c.159C= (p.Asn53=)
c.495C= (p.Asn165=)
6g.31933749C>GCA363496499C2c.396C>G (p.Asn132Lys)
c.213C>G (p.Asn71Lys)
c.582C>G (p.Asn194Lys)
c.77C>G (p.Thr26Arg)
c.177C>G (p.Asn59Lys)
n.302C>G
n.437C>G
c.186C>G (p.Asn62Lys)
c.176C>G
c.443-3570C>G (n.443-3570C>G)
c.*295C>G (n.*295C>G)
c.159C>G (p.Asn53Lys)
c.495C>G (p.Asn165Lys)
6g.31933749C>TCA3727434C2c.396C>T (p.Asn132=)
c.213C>T (p.Asn71=)
c.582C>T (p.Asn194=)
c.77C>T (p.Thr26Met)
c.177C>T (p.Asn59=)
n.302C>T
n.437C>T
c.186C>T (p.Asn62=)
c.176C>T
c.443-3570C>T (n.443-3570C>T)
c.*295C>T (n.*295C>T)
c.159C>T (p.Asn53=)
c.495C>T (p.Asn165=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.31933749_31933750delinsCGCA1619369841C2c.396_397delinsCG (p.Asn132=)
c.213_214delinsCG (p.Asn71=)
c.582_583delinsCG (p.Asn194=)
c.77_78delinsCG (p.Thr26=)
c.177_178delinsCG (p.Asn59=)
n.302_303delinsCG
n.437_438delinsCG
c.186_187delinsCG (p.Asn62=)
c.176_177delinsCG
c.443-3570_443-3569delinsCG (n.443-3570_443-3569delinsCG)
c.*295_*296delinsCG (n.*295_*296delinsCG)
c.159_160delinsCG (p.Asn53=)
c.495_496delinsCG (p.Asn165=)
6g.31933750G>ACA363496509C2c.397G>A (p.Gly133Arg)
c.214G>A (p.Gly72Arg)
c.583G>A (p.Gly195Arg)
c.78G>A (p.Thr26=)
c.178G>A (p.Gly60Arg)
n.303G>A
n.438G>A
c.187G>A (p.Gly63Arg)
c.177G>A
c.443-3569G>A (n.443-3569G>A)
c.*296G>A (n.*296G>A)
c.160G>A (p.Gly54Arg)
c.496G>A (p.Gly166Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31933750G>CCA363496510C2c.397G>C (p.Gly133Arg)
c.214G>C (p.Gly72Arg)
c.583G>C (p.Gly195Arg)
c.78G>C (p.Thr26=)
c.178G>C (p.Gly60Arg)
n.303G>C
n.438G>C
c.187G>C (p.Gly63Arg)
c.177G>C
c.443-3569G>C (n.443-3569G>C)
c.*296G>C (n.*296G>C)
c.160G>C (p.Gly54Arg)
c.496G>C (p.Gly166Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31933750G=CA1619369842C2c.397G= (p.Gly133=)
c.214G= (p.Gly72=)
c.583G= (p.Gly195=)
c.78G= (p.Thr26=)
c.178G= (p.Gly60=)
n.303G=
n.438G=
c.187G= (p.Gly63=)
c.177G=
c.443-3569G= (n.443-3569G=)
c.*296G= (n.*296G=)
c.160G= (p.Gly54=)
c.496G= (p.Gly166=)
6g.31933750G>TCA363496512C2c.397G>T (p.Gly133Trp)
c.214G>T (p.Gly72Trp)
c.583G>T (p.Gly195Trp)
c.78G>T (p.Thr26=)
c.178G>T (p.Gly60Trp)
n.303G>T
n.438G>T
c.187G>T (p.Gly63Trp)
c.177G>T
c.443-3569G>T (n.443-3569G>T)
c.*296G>T (n.*296G>T)
c.160G>T (p.Gly54Trp)
c.496G>T (p.Gly166Trp)
6g.31933753delCA3727433C2c.400del (p.Val134SerfsTer?)
c.217del (p.Val73SerfsTer?)
c.586del (p.Val196SerfsTer?)
c.81del (p.Ser28LeufsTer15)
c.181del (p.Val61SerfsTer?)
n.306del
n.441del
c.190del (p.Val64SerfsTer?)
c.180del
c.81del (p.Ser28LeufsTer18)
c.443-3566del (n.443-3566del)
c.*299del (n.*299del)
c.163del (p.Val55SerfsTer?)
c.499del (p.Val167SerfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31933751G>ACA3727435C2c.398G>A (p.Gly133Glu)
c.215G>A (p.Gly72Glu)
c.584G>A (p.Gly195Glu)
c.79G>A (p.Gly27Arg)
c.179G>A (p.Gly60Glu)
n.304G>A
n.439G>A
c.188G>A (p.Gly63Glu)
c.178G>A
c.443-3568G>A (n.443-3568G>A)
c.*297G>A (n.*297G>A)
c.161G>A (p.Gly54Glu)
c.497G>A (p.Gly166Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933751G>CCA363496529C2c.398G>C (p.Gly133Ala)
c.215G>C (p.Gly72Ala)
c.584G>C (p.Gly195Ala)
c.79G>C (p.Gly27Arg)
c.179G>C (p.Gly60Ala)
n.304G>C
n.439G>C
c.188G>C (p.Gly63Ala)
c.178G>C
c.443-3568G>C (n.443-3568G>C)
c.*297G>C (n.*297G>C)
c.161G>C (p.Gly54Ala)
c.497G>C (p.Gly166Ala)
6g.31933751G=CA1619369843C2c.398G= (p.Gly133=)
c.215G= (p.Gly72=)
c.584G= (p.Gly195=)
c.79G= (p.Gly27=)
c.179G= (p.Gly60=)
n.304G=
n.439G=
c.188G= (p.Gly63=)
c.178G=
c.443-3568G= (n.443-3568G=)
c.*297G= (n.*297G=)
c.161G= (p.Gly54=)
c.497G= (p.Gly166=)
6g.31933751G>TCA363496530C2c.398G>T (p.Gly133Val)
c.215G>T (p.Gly72Val)
c.584G>T (p.Gly195Val)
c.79G>T (p.Gly27Trp)
c.179G>T (p.Gly60Val)
n.304G>T
n.439G>T
c.188G>T (p.Gly63Val)
c.178G>T
c.443-3568G>T (n.443-3568G>T)
c.*297G>T (n.*297G>T)
c.161G>T (p.Gly54Val)
c.497G>T (p.Gly166Val)
6g.31933752G>ACA363496534C2c.399G>A (p.Gly133=)
c.216G>A (p.Gly72=)
c.585G>A (p.Gly195=)
c.80G>A (p.Gly27Glu)
c.180G>A (p.Gly60=)
n.305G>A
n.440G>A
c.189G>A (p.Gly63=)
c.179G>A
c.443-3567G>A (n.443-3567G>A)
c.*298G>A (n.*298G>A)
c.162G>A (p.Gly54=)
c.498G>A (p.Gly166=)
6g.31933752G>CCA363496535C2c.399G>C (p.Gly133=)
c.216G>C (p.Gly72=)
c.585G>C (p.Gly195=)
c.80G>C (p.Gly27Ala)
c.180G>C (p.Gly60=)
n.305G>C
n.440G>C
c.189G>C (p.Gly63=)
c.179G>C
c.443-3567G>C (n.443-3567G>C)
c.*298G>C (n.*298G>C)
c.162G>C (p.Gly54=)
c.498G>C (p.Gly166=)
6g.31933752G>TCA363496533C2c.399G>T (p.Gly133=)
c.216G>T (p.Gly72=)
c.585G>T (p.Gly195=)
c.80G>T (p.Gly27Val)
c.180G>T (p.Gly60=)
n.305G>T
n.440G>T
c.189G>T (p.Gly63=)
c.179G>T
c.443-3567G>T (n.443-3567G>T)
c.*298G>T (n.*298G>T)
c.162G>T (p.Gly54=)
c.498G>T (p.Gly166=)
6g.31933753G>ACA3727436C2c.400G>A (p.Val134Ile)
c.217G>A (p.Val73Ile)
c.586G>A (p.Val196Ile)
c.81G>A (p.Gly27=)
c.181G>A (p.Val61Ile)
n.306G>A
n.441G>A
c.190G>A (p.Val64Ile)
c.180G>A
c.443-3566G>A (n.443-3566G>A)
c.*299G>A (n.*299G>A)
c.163G>A (p.Val55Ile)
c.499G>A (p.Val167Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933753G>CCA363496537C2c.400G>C (p.Val134Leu)
c.217G>C (p.Val73Leu)
c.586G>C (p.Val196Leu)
c.81G>C (p.Gly27=)
c.181G>C (p.Val61Leu)
n.306G>C
n.441G>C
c.190G>C (p.Val64Leu)
c.180G>C
c.443-3566G>C (n.443-3566G>C)
c.*299G>C (n.*299G>C)
c.163G>C (p.Val55Leu)
c.499G>C (p.Val167Leu)
6g.31933753G=CA1619369844C2c.400G= (p.Val134=)
c.217G= (p.Val73=)
c.586G= (p.Val196=)
c.81G= (p.Gly27=)
c.181G= (p.Val61=)
n.306G=
n.441G=
c.190G= (p.Val64=)
c.180G=
c.443-3566G= (n.443-3566G=)
c.*299G= (n.*299G=)
c.163G= (p.Val55=)
c.499G= (p.Val167=)
6g.31933753G>TCA363496539C2c.400G>T (p.Val134Phe)
c.217G>T (p.Val73Phe)
c.586G>T (p.Val196Phe)
c.81G>T (p.Gly27=)
c.181G>T (p.Val61Phe)
n.306G>T
n.441G>T
c.190G>T (p.Val64Phe)
c.180G>T
c.443-3566G>T (n.443-3566G>T)
c.*299G>T (n.*299G>T)
c.163G>T (p.Val55Phe)
c.499G>T (p.Val167Phe)
6g.31933754T>ACA363496541C2c.401T>A (p.Val134Asp)
c.218T>A (p.Val73Asp)
c.587T>A (p.Val196Asp)
c.82T>A (p.Ser28Thr)
c.182T>A (p.Val61Asp)
n.307T>A
n.442T>A
c.191T>A (p.Val64Asp)
c.181T>A
c.443-3565T>A (n.443-3565T>A)
c.*300T>A (n.*300T>A)
c.164T>A (p.Val55Asp)
c.500T>A (p.Val167Asp)
 dbSNP gnomAD v4
6g.31933754T>CCA363496543C2c.401T>C (p.Val134Ala)
c.218T>C (p.Val73Ala)
c.587T>C (p.Val196Ala)
c.82T>C (p.Ser28Pro)
c.182T>C (p.Val61Ala)
n.307T>C
n.442T>C
c.191T>C (p.Val64Ala)
c.181T>C
c.443-3565T>C (n.443-3565T>C)
c.*300T>C (n.*300T>C)
c.164T>C (p.Val55Ala)
c.500T>C (p.Val167Ala)
6g.31933754T>GCA363496546C2c.401T>G (p.Val134Gly)
c.218T>G (p.Val73Gly)
c.587T>G (p.Val196Gly)
c.82T>G (p.Ser28Ala)
c.182T>G (p.Val61Gly)
n.307T>G
n.442T>G
c.191T>G (p.Val64Gly)
c.181T>G
c.443-3565T>G (n.443-3565T>G)
c.*300T>G (n.*300T>G)
c.164T>G (p.Val55Gly)
c.500T>G (p.Val167Gly)
6g.31933754T=CA1619369845C2c.401T= (p.Val134=)
c.218T= (p.Val73=)
c.587T= (p.Val196=)
c.82T= (p.Ser28=)
c.182T= (p.Val61=)
n.307T=
n.442T=
c.191T= (p.Val64=)
c.181T=
c.443-3565T= (n.443-3565T=)
c.*300T= (n.*300T=)
c.164T= (p.Val55=)
c.500T= (p.Val167=)
6g.31933755C>ACA363496577C2c.402C>A (p.Val134=)
c.219C>A (p.Val73=)
c.588C>A (p.Val196=)
c.83C>A (p.Ser28Tyr)
c.183C>A (p.Val61=)
n.308C>A
n.443C>A
c.192C>A (p.Val64=)
c.182C>A
c.443-3564C>A (n.443-3564C>A)
c.*301C>A (n.*301C>A)
c.165C>A (p.Val55=)
c.501C>A (p.Val167=)
6g.31933755C=CA1619369846C2c.402C= (p.Val134=)
c.219C= (p.Val73=)
c.588C= (p.Val196=)
c.83C= (p.Ser28=)
c.183C= (p.Val61=)
n.308C=
n.443C=
c.192C= (p.Val64=)
c.182C=
c.443-3564C= (n.443-3564C=)
c.*301C= (n.*301C=)
c.165C= (p.Val55=)
c.501C= (p.Val167=)
6g.31933755C>GCA363496565C2c.402C>G (p.Val134=)
c.219C>G (p.Val73=)
c.588C>G (p.Val196=)
c.83C>G (p.Ser28Cys)
c.183C>G (p.Val61=)
n.308C>G
n.443C>G
c.192C>G (p.Val64=)
c.182C>G
c.443-3564C>G (n.443-3564C>G)
c.*301C>G (n.*301C>G)
c.165C>G (p.Val55=)
c.501C>G (p.Val167=)
 dbSNP gnomAD v3 gnomAD v4
6g.31933755C>TCA363496569C2c.402C>T (p.Val134=)
c.219C>T (p.Val73=)
c.588C>T (p.Val196=)
c.83C>T (p.Ser28Phe)
c.183C>T (p.Val61=)
n.308C>T
n.443C>T
c.192C>T (p.Val64=)
c.182C>T
c.443-3564C>T (n.443-3564C>T)
c.*301C>T (n.*301C>T)
c.165C>T (p.Val55=)
c.501C>T (p.Val167=)
 COSMIC
6g.31933756T>ACA363496580C2c.403T>A (p.Trp135Arg)
c.220T>A (p.Trp74Arg)
c.589T>A (p.Trp197Arg)
c.84T>A (p.Ser28=)
c.184T>A (p.Trp62Arg)
n.309T>A
n.444T>A
c.193T>A (p.Trp65Arg)
c.183T>A
c.443-3563T>A (n.443-3563T>A)
c.*302T>A (n.*302T>A)
c.166T>A (p.Trp56Arg)
c.502T>A (p.Trp168Arg)
6g.31933756T>CCA363496582C2c.403T>C (p.Trp135Arg)
c.220T>C (p.Trp74Arg)
c.589T>C (p.Trp197Arg)
c.84T>C (p.Ser28=)
c.184T>C (p.Trp62Arg)
n.309T>C
n.444T>C
c.193T>C (p.Trp65Arg)
c.183T>C
c.443-3563T>C (n.443-3563T>C)
c.*302T>C (n.*302T>C)
c.166T>C (p.Trp56Arg)
c.502T>C (p.Trp168Arg)
6g.31933756T>GCA363496584C2c.403T>G (p.Trp135Gly)
c.220T>G (p.Trp74Gly)
c.589T>G (p.Trp197Gly)
c.84T>G (p.Ser28=)
c.184T>G (p.Trp62Gly)
n.309T>G
n.444T>G
c.193T>G (p.Trp65Gly)
c.183T>G
c.443-3563T>G (n.443-3563T>G)
c.*302T>G (n.*302T>G)
c.166T>G (p.Trp56Gly)
c.502T>G (p.Trp168Gly)
6g.31933757G>ACA363496586C2c.404G>A (p.Trp135Ter)
c.221G>A (p.Trp74Ter)
c.590G>A (p.Trp197Ter)
c.85G>A (p.Gly29Arg)
c.185G>A (p.Trp62Ter)
n.310G>A
n.445G>A
c.194G>A (p.Trp65Ter)
c.184G>A
c.443-3562G>A (n.443-3562G>A)
c.*303G>A (n.*303G>A)
c.167G>A (p.Trp56Ter)
c.503G>A (p.Trp168Ter)
 dbSNP gnomAD v3 gnomAD v4
6g.31933757G>CCA363496587C2c.404G>C (p.Trp135Ser)
c.221G>C (p.Trp74Ser)
c.590G>C (p.Trp197Ser)
c.85G>C (p.Gly29Arg)
c.185G>C (p.Trp62Ser)
n.310G>C
n.445G>C
c.194G>C (p.Trp65Ser)
c.184G>C
c.443-3562G>C (n.443-3562G>C)
c.*303G>C (n.*303G>C)
c.167G>C (p.Trp56Ser)
c.503G>C (p.Trp168Ser)
6g.31933757G=CA1619369847C2c.404G= (p.Trp135=)
c.221G= (p.Trp74=)
c.590G= (p.Trp197=)
c.85G= (p.Gly29=)
c.185G= (p.Trp62=)
n.310G=
n.445G=
c.194G= (p.Trp65=)
c.184G=
c.443-3562G= (n.443-3562G=)
c.*303G= (n.*303G=)
c.167G= (p.Trp56=)
c.503G= (p.Trp168=)
6g.31933757G>TCA363496590C2c.404G>T (p.Trp135Leu)
c.221G>T (p.Trp74Leu)
c.590G>T (p.Trp197Leu)
c.85G>T (p.Gly29Ter)
c.185G>T (p.Trp62Leu)
n.310G>T
n.445G>T
c.194G>T (p.Trp65Leu)
c.184G>T
c.443-3562G>T (n.443-3562G>T)
c.*303G>T (n.*303G>T)
c.167G>T (p.Trp56Leu)
c.503G>T (p.Trp168Leu)
6g.31933758G>ACA363496594C2c.405G>A (p.Trp135Ter)
c.222G>A (p.Trp74Ter)
c.591G>A (p.Trp197Ter)
c.86G>A (p.Gly29Glu)
c.186G>A (p.Trp62Ter)
n.311G>A
n.446G>A
c.195G>A (p.Trp65Ter)
c.185G>A
c.443-3561G>A (n.443-3561G>A)
c.*304G>A (n.*304G>A)
c.168G>A (p.Trp56Ter)
c.504G>A (p.Trp168Ter)
 dbSNP
6g.31933758G>CCA363496607C2c.405G>C (p.Trp135Cys)
c.222G>C (p.Trp74Cys)
c.591G>C (p.Trp197Cys)
c.86G>C (p.Gly29Ala)
c.186G>C (p.Trp62Cys)
n.311G>C
n.446G>C
c.195G>C (p.Trp65Cys)
c.185G>C
c.443-3561G>C (n.443-3561G>C)
c.*304G>C (n.*304G>C)
c.168G>C (p.Trp56Cys)
c.504G>C (p.Trp168Cys)
6g.31933758G=CA1619369848C2c.405G= (p.Trp135=)
c.222G= (p.Trp74=)
c.591G= (p.Trp197=)
c.86G= (p.Gly29=)
c.186G= (p.Trp62=)
n.311G=
n.446G=
c.195G= (p.Trp65=)
c.185G=
c.443-3561G= (n.443-3561G=)
c.*304G= (n.*304G=)
c.168G= (p.Trp56=)
c.504G= (p.Trp168=)
6g.31933758G>TCA363496603C2c.405G>T (p.Trp135Cys)
c.222G>T (p.Trp74Cys)
c.591G>T (p.Trp197Cys)
c.86G>T (p.Gly29Val)
c.186G>T (p.Trp62Cys)
n.311G>T
n.446G>T
c.195G>T (p.Trp65Cys)
c.185G>T
c.443-3561G>T (n.443-3561G>T)
c.*304G>T (n.*304G>T)
c.168G>T (p.Trp56Cys)
c.504G>T (p.Trp168Cys)
6g.31933759A=CA1619369849C2c.406A= (p.Ser136=)
c.223A= (p.Ser75=)
c.592A= (p.Ser198=)
c.87A= (p.Gly29=)
c.187A= (p.Ser63=)
n.312A=
n.447A=
c.196A= (p.Ser66=)
c.186A=
c.443-3560A= (n.443-3560A=)
c.*305A= (n.*305A=)
c.169A= (p.Ser57=)
c.505A= (p.Ser169=)
6g.31933759A>CCA3727437C2c.406A>C (p.Ser136Arg)
c.223A>C (p.Ser75Arg)
c.592A>C (p.Ser198Arg)
c.87A>C (p.Gly29=)
c.187A>C (p.Ser63Arg)
n.312A>C
n.447A>C
c.196A>C (p.Ser66Arg)
c.186A>C
c.443-3560A>C (n.443-3560A>C)
c.*305A>C (n.*305A>C)
c.169A>C (p.Ser57Arg)
c.505A>C (p.Ser169Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933759A>GCA363496611C2c.406A>G (p.Ser136Gly)
c.223A>G (p.Ser75Gly)
c.592A>G (p.Ser198Gly)
c.87A>G (p.Gly29=)
c.187A>G (p.Ser63Gly)
n.312A>G
n.447A>G
c.196A>G (p.Ser66Gly)
c.186A>G
c.443-3560A>G (n.443-3560A>G)
c.*305A>G (n.*305A>G)
c.169A>G (p.Ser57Gly)
c.505A>G (p.Ser169Gly)
6g.31933759A>TCA363496613C2c.406A>T (p.Ser136Cys)
c.223A>T (p.Ser75Cys)
c.592A>T (p.Ser198Cys)
c.87A>T (p.Gly29=)
c.187A>T (p.Ser63Cys)
n.312A>T
n.447A>T
c.196A>T (p.Ser66Cys)
c.186A>T
c.443-3560A>T (n.443-3560A>T)
c.*305A>T (n.*305A>T)
c.169A>T (p.Ser57Cys)
c.505A>T (p.Ser169Cys)
6g.31933760G>ACA363496619C2c.407G>A (p.Ser136Asn)
c.224G>A (p.Ser75Asn)
c.593G>A (p.Ser198Asn)
c.88G>A (p.Val30Met)
c.188G>A (p.Ser63Asn)
n.313G>A
n.448G>A
c.197G>A (p.Ser66Asn)
c.187G>A
c.443-3559G>A (n.443-3559G>A)
c.*306G>A (n.*306G>A)
c.170G>A (p.Ser57Asn)
c.506G>A (p.Ser169Asn)
6g.31933760G>CCA363496621C2c.407G>C (p.Ser136Thr)
c.224G>C (p.Ser75Thr)
c.593G>C (p.Ser198Thr)
c.88G>C (p.Val30Leu)
c.188G>C (p.Ser63Thr)
n.313G>C
n.448G>C
c.197G>C (p.Ser66Thr)
c.187G>C
c.443-3559G>C (n.443-3559G>C)
c.*306G>C (n.*306G>C)
c.170G>C (p.Ser57Thr)
c.506G>C (p.Ser169Thr)
6g.31933760G>TCA363496625C2c.407G>T (p.Ser136Ile)
c.224G>T (p.Ser75Ile)
c.593G>T (p.Ser198Ile)
c.88G>T (p.Val30Leu)
c.188G>T (p.Ser63Ile)
n.313G>T
n.448G>T
c.197G>T (p.Ser66Ile)
c.187G>T
c.443-3559G>T (n.443-3559G>T)
c.*306G>T (n.*306G>T)
c.170G>T (p.Ser57Ile)
c.506G>T (p.Ser169Ile)
6g.31933761T>ACA363496630C2c.408T>A (p.Ser136Arg)
c.225T>A (p.Ser75Arg)
c.594T>A (p.Ser198Arg)
c.89T>A (p.Val30Glu)
c.189T>A (p.Ser63Arg)
n.314T>A
n.449T>A
c.198T>A (p.Ser66Arg)
c.188T>A
c.443-3558T>A (n.443-3558T>A)
c.*307T>A (n.*307T>A)
c.171T>A (p.Ser57Arg)
c.507T>A (p.Ser169Arg)
6g.31933761T>CCA363496634C2c.408T>C (p.Ser136=)
c.225T>C (p.Ser75=)
c.594T>C (p.Ser198=)
c.89T>C (p.Val30Ala)
c.189T>C (p.Ser63=)
n.314T>C
n.449T>C
c.198T>C (p.Ser66=)
c.188T>C
c.443-3558T>C (n.443-3558T>C)
c.*307T>C (n.*307T>C)
c.171T>C (p.Ser57=)
c.507T>C (p.Ser169=)
6g.31933761T>GCA3727438C2c.408T>G (p.Ser136Arg)
c.225T>G (p.Ser75Arg)
c.594T>G (p.Ser198Arg)
c.89T>G (p.Val30Gly)
c.189T>G (p.Ser63Arg)
n.314T>G
n.449T>G
c.198T>G (p.Ser66Arg)
c.188T>G
c.443-3558T>G (n.443-3558T>G)
c.*307T>G (n.*307T>G)
c.171T>G (p.Ser57Arg)
c.507T>G (p.Ser169Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31933761T=CA1619369850C2c.408T= (p.Ser136=)
c.225T= (p.Ser75=)
c.594T= (p.Ser198=)
c.89T= (p.Val30=)
c.189T= (p.Ser63=)
n.314T=
n.449T=
c.198T= (p.Ser66=)
c.188T=
c.443-3558T= (n.443-3558T=)
c.*307T= (n.*307T=)
c.171T= (p.Ser57=)
c.507T= (p.Ser169=)
6g.31933762G>ACA363496639C2c.409G>A (p.Gly137Arg)
c.226G>A (p.Gly76Arg)
c.595G>A (p.Gly199Arg)
c.90G>A (p.Val30=)
c.190G>A (p.Gly64Arg)
n.315G>A
n.450G>A
c.199G>A (p.Gly67Arg)
c.189G>A
c.443-3557G>A (n.443-3557G>A)
c.*308G>A (n.*308G>A)
c.172G>A (p.Gly58Arg)
c.508G>A (p.Gly170Arg)
 dbSNP
6g.31933762G>CCA363496646C2c.409G>C (p.Gly137Arg)
c.226G>C (p.Gly76Arg)
c.595G>C (p.Gly199Arg)
c.90G>C (p.Val30=)
c.190G>C (p.Gly64Arg)
n.315G>C
n.450G>C
c.199G>C (p.Gly67Arg)
c.189G>C
c.443-3557G>C (n.443-3557G>C)
c.*308G>C (n.*308G>C)
c.172G>C (p.Gly58Arg)
c.508G>C (p.Gly170Arg)
6g.31933762G>TCA363496648C2c.409G>T (p.Gly137Ter)
c.226G>T (p.Gly76Ter)
c.595G>T (p.Gly199Ter)
c.90G>T (p.Val30=)
c.190G>T (p.Gly64Ter)
n.315G>T
n.450G>T
c.199G>T (p.Gly67Ter)
c.189G>T
c.443-3557G>T (n.443-3557G>T)
c.*308G>T (n.*308G>T)
c.172G>T (p.Gly58Ter)
c.508G>T (p.Gly170Ter)
6g.31933763G>ACA363496659C2c.410G>A (p.Gly137Glu)
c.227G>A (p.Gly76Glu)
c.596G>A (p.Gly199Glu)
c.91G>A (p.Glu31Lys)
c.191G>A (p.Gly64Glu)
n.316G>A
n.451G>A
c.200G>A (p.Gly67Glu)
c.190G>A
c.443-3556G>A (n.443-3556G>A)
c.*309G>A (n.*309G>A)
c.173G>A (p.Gly58Glu)
c.509G>A (p.Gly170Glu)
 dbSNP
6g.31933763G>CCA363496653C2c.410G>C (p.Gly137Ala)
c.227G>C (p.Gly76Ala)
c.596G>C (p.Gly199Ala)
c.91G>C (p.Glu31Gln)
c.191G>C (p.Gly64Ala)
n.316G>C
n.451G>C
c.200G>C (p.Gly67Ala)
c.190G>C
c.443-3556G>C (n.443-3556G>C)
c.*309G>C (n.*309G>C)
c.173G>C (p.Gly58Ala)
c.509G>C (p.Gly170Ala)
6g.31933763G>TCA363496655C2c.410G>T (p.Gly137Val)
c.227G>T (p.Gly76Val)
c.596G>T (p.Gly199Val)
c.91G>T (p.Glu31Ter)
c.191G>T (p.Gly64Val)
n.316G>T
n.451G>T
c.200G>T (p.Gly67Val)
c.190G>T
c.443-3556G>T (n.443-3556G>T)
c.*309G>T (n.*309G>T)
c.173G>T (p.Gly58Val)
c.509G>T (p.Gly170Val)
6g.31933764A>CCA363496663C2c.411A>C (p.Gly137=)
c.228A>C (p.Gly76=)
c.597A>C (p.Gly199=)
c.92A>C (p.Glu31Ala)
c.192A>C (p.Gly64=)
n.317A>C
n.452A>C
c.201A>C (p.Gly67=)
c.191A>C
c.443-3555A>C (n.443-3555A>C)
c.*310A>C (n.*310A>C)
c.174A>C (p.Gly58=)
c.510A>C (p.Gly170=)
6g.31933764A>GCA363496672C2c.411A>G (p.Gly137=)
c.228A>G (p.Gly76=)
c.597A>G (p.Gly199=)
c.92A>G (p.Glu31Gly)
c.192A>G (p.Gly64=)
n.317A>G
n.452A>G
c.201A>G (p.Gly67=)
c.191A>G
c.443-3555A>G (n.443-3555A>G)
c.*310A>G (n.*310A>G)
c.174A>G (p.Gly58=)
c.510A>G (p.Gly170=)
6g.31933764A>TCA363496674C2c.411A>T (p.Gly137=)
c.228A>T (p.Gly76=)
c.597A>T (p.Gly199=)
c.92A>T (p.Glu31Val)
c.192A>T (p.Gly64=)
n.317A>T
n.452A>T
c.201A>T (p.Gly67=)
c.191A>T
c.443-3555A>T (n.443-3555A>T)
c.*310A>T (n.*310A>T)
c.174A>T (p.Gly58=)
c.510A>T (p.Gly170=)
6g.31933765A>CCA363496679C2c.412A>C (p.Thr138Pro)
c.229A>C (p.Thr77Pro)
c.598A>C (p.Thr200Pro)
c.93A>C (p.Glu31Asp)
c.193A>C (p.Thr65Pro)
n.318A>C
n.453A>C
c.202A>C (p.Thr68Pro)
c.192A>C
c.443-3554A>C (n.443-3554A>C)
c.*311A>C (n.*311A>C)
c.175A>C (p.Thr59Pro)
c.511A>C (p.Thr171Pro)
6g.31933765A>GCA363496691C2c.412A>G (p.Thr138Ala)
c.229A>G (p.Thr77Ala)
c.598A>G (p.Thr200Ala)
c.93A>G (p.Glu31=)
c.193A>G (p.Thr65Ala)
n.318A>G
n.453A>G
c.202A>G (p.Thr68Ala)
c.192A>G
c.443-3554A>G (n.443-3554A>G)
c.*311A>G (n.*311A>G)
c.175A>G (p.Thr59Ala)
c.511A>G (p.Thr171Ala)
6g.31933765A>TCA363496693C2c.412A>T (p.Thr138Ser)
c.229A>T (p.Thr77Ser)
c.598A>T (p.Thr200Ser)
c.93A>T (p.Glu31Asp)
c.193A>T (p.Thr65Ser)
n.318A>T
n.453A>T
c.202A>T (p.Thr68Ser)
c.192A>T
c.443-3554A>T (n.443-3554A>T)
c.*311A>T (n.*311A>T)
c.175A>T (p.Thr59Ser)
c.511A>T (p.Thr171Ser)
6g.31933766C>ACA363496701C2c.413C>A (p.Thr138Lys)
c.230C>A (p.Thr77Lys)
c.599C>A (p.Thr200Lys)
c.94C>A (p.Arg32=)
c.194C>A (p.Thr65Lys)
n.319C>A
n.454C>A
c.203C>A (p.Thr68Lys)
c.193C>A
c.443-3553C>A (n.443-3553C>A)
c.*312C>A (n.*312C>A)
c.176C>A (p.Thr59Lys)
c.512C>A (p.Thr171Lys)
6g.31933766C=CA1619369851C2c.413C= (p.Thr138=)
c.230C= (p.Thr77=)
c.599C= (p.Thr200=)
c.94C= (p.Arg32=)
c.194C= (p.Thr65=)
n.319C=
n.454C=
c.203C= (p.Thr68=)
c.193C=
c.443-3553C= (n.443-3553C=)
c.*312C= (n.*312C=)
c.176C= (p.Thr59=)
c.512C= (p.Thr171=)
6g.31933766C>GCA363496698C2c.413C>G (p.Thr138Arg)
c.230C>G (p.Thr77Arg)
c.599C>G (p.Thr200Arg)
c.94C>G (p.Arg32Gly)
c.194C>G (p.Thr65Arg)
n.319C>G
n.454C>G
c.203C>G (p.Thr68Arg)
c.193C>G
c.443-3553C>G (n.443-3553C>G)
c.*312C>G (n.*312C>G)
c.176C>G (p.Thr59Arg)
c.512C>G (p.Thr171Arg)
6g.31933766C>TCA3727439C2c.413C>T (p.Thr138Met)
c.230C>T (p.Thr77Met)
c.599C>T (p.Thr200Met)
c.94C>T (p.Arg32Trp)
c.194C>T (p.Thr65Met)
n.319C>T
n.454C>T
c.203C>T (p.Thr68Met)
c.193C>T
c.443-3553C>T (n.443-3553C>T)
c.*312C>T (n.*312C>T)
c.176C>T (p.Thr59Met)
c.512C>T (p.Thr171Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.31933767G>ACA363496708C2c.414G>A (p.Thr138=)
c.231G>A (p.Thr77=)
c.600G>A (p.Thr200=)
c.95G>A (p.Arg32Gln)
c.195G>A (p.Thr65=)
n.320G>A
n.455G>A
c.204G>A (p.Thr68=)
c.194G>A
c.443-3552G>A (n.443-3552G>A)
c.*313G>A (n.*313G>A)
c.177G>A (p.Thr59=)
c.513G>A (p.Thr171=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31933767G>CCA363496710C2c.414G>C (p.Thr138=)
c.231G>C (p.Thr77=)
c.600G>C (p.Thr200=)
c.95G>C (p.Arg32Pro)
c.195G>C (p.Thr65=)
n.320G>C
n.455G>C
c.204G>C (p.Thr68=)
c.194G>C
c.443-3552G>C (n.443-3552G>C)
c.*313G>C (n.*313G>C)
c.177G>C (p.Thr59=)
c.513G>C (p.Thr171=)
6g.31933767G=CA1619369852C2c.414G= (p.Thr138=)
c.231G= (p.Thr77=)
c.600G= (p.Thr200=)
c.95G= (p.Arg32=)
c.195G= (p.Thr65=)
n.320G=
n.455G=
c.204G= (p.Thr68=)
c.194G=
c.443-3552G= (n.443-3552G=)
c.*313G= (n.*313G=)
c.177G= (p.Thr59=)
c.513G= (p.Thr171=)
6g.31933767G>TCA363496714C2c.414G>T (p.Thr138=)
c.231G>T (p.Thr77=)
c.600G>T (p.Thr200=)
c.95G>T (p.Arg32Leu)
c.195G>T (p.Thr65=)
n.320G>T
n.455G>T
c.204G>T (p.Thr68=)
c.194G>T
c.443-3552G>T (n.443-3552G>T)
c.*313G>T (n.*313G>T)
c.177G>T (p.Thr59=)
c.513G>T (p.Thr171=)
6g.31933768G>ACA363496719C2c.415G>A (p.Glu139Lys)
c.232G>A (p.Glu78Lys)
c.601G>A (p.Glu201Lys)
c.96G>A (p.Arg32=)
c.196G>A (p.Glu66Lys)
n.321G>A
n.456G>A
c.205G>A (p.Glu69Lys)
c.195G>A
c.443-3551G>A (n.443-3551G>A)
c.*314G>A (n.*314G>A)
c.178G>A (p.Glu60Lys)
c.514G>A (p.Glu172Lys)
 COSMIC
6g.31933768G>CCA363496727C2c.415G>C (p.Glu139Gln)
c.232G>C (p.Glu78Gln)
c.601G>C (p.Glu201Gln)
c.96G>C (p.Arg32=)
c.196G>C (p.Glu66Gln)
n.321G>C
n.456G>C
c.205G>C (p.Glu69Gln)
c.195G>C
c.443-3551G>C (n.443-3551G>C)
c.*314G>C (n.*314G>C)
c.178G>C (p.Glu60Gln)
c.514G>C (p.Glu172Gln)
6g.31933768G>TCA363496729C2c.415G>T (p.Glu139Ter)
c.232G>T (p.Glu78Ter)
c.601G>T (p.Glu201Ter)
c.96G>T (p.Arg32=)
c.196G>T (p.Glu66Ter)
n.321G>T
n.456G>T
c.205G>T (p.Glu69Ter)
c.195G>T
c.443-3551G>T (n.443-3551G>T)
c.*314G>T (n.*314G>T)
c.178G>T (p.Glu60Ter)
c.514G>T (p.Glu172Ter)
6g.31933769A>CCA363496733C2c.416A>C (p.Glu139Ala)
c.233A>C (p.Glu78Ala)
c.602A>C (p.Glu201Ala)
c.97A>C (p.Ser33Arg)
c.197A>C (p.Glu66Ala)
n.322A>C
n.457A>C
c.206A>C (p.Glu69Ala)
c.196A>C
c.443-3550A>C (n.443-3550A>C)
c.*315A>C (n.*315A>C)
c.179A>C (p.Glu60Ala)
c.515A>C (p.Glu172Ala)
 gnomAD v4
6g.31933769A>GCA363496739C2c.416A>G (p.Glu139Gly)
c.233A>G (p.Glu78Gly)
c.602A>G (p.Glu201Gly)
c.97A>G (p.Ser33Gly)
c.197A>G (p.Glu66Gly)
n.322A>G
n.457A>G
c.206A>G (p.Glu69Gly)
c.196A>G
c.443-3550A>G (n.443-3550A>G)
c.*315A>G (n.*315A>G)
c.179A>G (p.Glu60Gly)
c.515A>G (p.Glu172Gly)
6g.31933769A>TCA363496737C2c.416A>T (p.Glu139Val)
c.233A>T (p.Glu78Val)
c.602A>T (p.Glu201Val)
c.97A>T (p.Ser33Cys)
c.197A>T (p.Glu66Val)
n.322A>T
n.457A>T
c.206A>T (p.Glu69Val)
c.196A>T
c.443-3550A>T (n.443-3550A>T)
c.*315A>T (n.*315A>T)
c.179A>T (p.Glu60Val)
c.515A>T (p.Glu172Val)
6g.31933770G>ACA363496742C2c.417G>A (p.Glu139=)
c.234G>A (p.Glu78=)
c.603G>A (p.Glu201=)
c.98G>A (p.Ser33Asn)
c.198G>A (p.Glu66=)
n.323G>A
n.458G>A
c.207G>A (p.Glu69=)
c.197G>A
c.443-3549G>A (n.443-3549G>A)
c.*316G>A (n.*316G>A)
c.180G>A (p.Glu60=)
c.516G>A (p.Glu172=)
6g.31933770G>CCA363496744C2c.417G>C (p.Glu139Asp)
c.234G>C (p.Glu78Asp)
c.603G>C (p.Glu201Asp)
c.98G>C (p.Ser33Thr)
c.198G>C (p.Glu66Asp)
n.323G>C
n.458G>C
c.207G>C (p.Glu69Asp)
c.197G>C
c.443-3549G>C (n.443-3549G>C)
c.*316G>C (n.*316G>C)
c.180G>C (p.Glu60Asp)
c.516G>C (p.Glu172Asp)
6g.31933770G=CA1619369853C2c.417G= (p.Glu139=)
c.234G= (p.Glu78=)
c.603G= (p.Glu201=)
c.98G= (p.Ser33=)
c.198G= (p.Glu66=)
n.323G=
n.458G=
c.207G= (p.Glu69=)
c.197G=
c.443-3549G= (n.443-3549G=)
c.*316G= (n.*316G=)
c.180G= (p.Glu60=)
c.516G= (p.Glu172=)
6g.31933770G>TCA136929085C2c.417G>T (p.Glu139Asp)
c.234G>T (p.Glu78Asp)
c.603G>T (p.Glu201Asp)
c.98G>T (p.Ser33Ile)
c.198G>T (p.Glu66Asp)
n.323G>T
n.458G>T
c.207G>T (p.Glu69Asp)
c.197G>T
c.443-3549G>T (n.443-3549G>T)
c.*316G>T (n.*316G>T)
c.180G>T (p.Glu60Asp)
c.516G>T (p.Glu172Asp)
 dbSNP gnomAD v2
6g.31933773_31933783delCA2678069537C2c.420_430del (p.Ile141ThrfsTer5)
c.237_247del (p.Ile80ThrfsTer5)
c.606_616del (p.Ile203ThrfsTer5)
c.101_111del (p.Pro34GlnfsTer?)
c.201_211del (p.Ile68ThrfsTer5)
n.326_336del
n.461_471del
c.210_220del (p.Ile71ThrfsTer5)
c.200_210del
c.101_111del (p.Pro34HisfsTer5)
c.443-3546_443-3536del (n.443-3546_443-3536del)
c.*319_*329del (n.*319_*329del)
c.183_193del (p.Ile62ThrfsTer5)
c.519_529del (p.Ile174ThrfsTer5)
 gnomAD v4
6g.31933771C>ACA363496747C2c.418C>A (p.Pro140Thr)
c.235C>A (p.Pro79Thr)
c.604C>A (p.Pro202Thr)
c.99C>A (p.Ser33Arg)
c.199C>A (p.Pro67Thr)
n.324C>A
n.459C>A
c.208C>A (p.Pro70Thr)
c.198C>A
c.443-3548C>A (n.443-3548C>A)
c.*317C>A (n.*317C>A)
c.181C>A (p.Pro61Thr)
c.517C>A (p.Pro173Thr)
6g.31933771C>GCA363496748C2c.418C>G (p.Pro140Ala)
c.235C>G (p.Pro79Ala)
c.604C>G (p.Pro202Ala)
c.99C>G (p.Ser33Arg)
c.199C>G (p.Pro67Ala)
n.324C>G
n.459C>G
c.208C>G (p.Pro70Ala)
c.198C>G
c.443-3548C>G (n.443-3548C>G)
c.*317C>G (n.*317C>G)
c.181C>G (p.Pro61Ala)
c.517C>G (p.Pro173Ala)
6g.31933771C>TCA363496750C2c.418C>T (p.Pro140Ser)
c.235C>T (p.Pro79Ser)
c.604C>T (p.Pro202Ser)
c.99C>T (p.Ser33=)
c.199C>T (p.Pro67Ser)
n.324C>T
n.459C>T
c.208C>T (p.Pro70Ser)
c.198C>T
c.443-3548C>T (n.443-3548C>T)
c.*317C>T (n.*317C>T)
c.181C>T (p.Pro61Ser)
c.517C>T (p.Pro173Ser)
6g.31933772C>ACA363496752C2c.419C>A (p.Pro140His)
c.236C>A (p.Pro79His)
c.605C>A (p.Pro202His)
c.100C>A (p.Pro34Thr)
c.200C>A (p.Pro67His)
n.325C>A
n.460C>A
c.209C>A (p.Pro70His)
c.199C>A
c.443-3547C>A (n.443-3547C>A)
c.*318C>A (n.*318C>A)
c.182C>A (p.Pro61His)
c.518C>A (p.Pro173His)
6g.31933772C>GCA363496755C2c.419C>G (p.Pro140Arg)
c.236C>G (p.Pro79Arg)
c.605C>G (p.Pro202Arg)
c.100C>G (p.Pro34Ala)
c.200C>G (p.Pro67Arg)
n.325C>G
n.460C>G
c.209C>G (p.Pro70Arg)
c.199C>G
c.443-3547C>G (n.443-3547C>G)
c.*318C>G (n.*318C>G)
c.182C>G (p.Pro61Arg)
c.518C>G (p.Pro173Arg)
6g.31933772C>TCA363496759C2c.419C>T (p.Pro140Leu)
c.236C>T (p.Pro79Leu)
c.605C>T (p.Pro202Leu)
c.100C>T (p.Pro34Ser)
c.200C>T (p.Pro67Leu)
n.325C>T
n.460C>T
c.209C>T (p.Pro70Leu)
c.199C>T
c.443-3547C>T (n.443-3547C>T)
c.*318C>T (n.*318C>T)
c.182C>T (p.Pro61Leu)
c.518C>T (p.Pro173Leu)
6g.31933773C>ACA363496762C2c.420C>A (p.Pro140=)
c.237C>A (p.Pro79=)
c.606C>A (p.Pro202=)
c.101C>A (p.Pro34Gln)
c.201C>A (p.Pro67=)
n.326C>A
n.461C>A
c.210C>A (p.Pro70=)
c.200C>A
c.443-3546C>A (n.443-3546C>A)
c.*319C>A (n.*319C>A)
c.183C>A (p.Pro61=)
c.519C>A (p.Pro173=)
6g.31933773C>GCA363496765C2c.420C>G (p.Pro140=)
c.237C>G (p.Pro79=)
c.606C>G (p.Pro202=)
c.101C>G (p.Pro34Arg)
c.201C>G (p.Pro67=)
n.326C>G
n.461C>G
c.210C>G (p.Pro70=)
c.200C>G
c.443-3546C>G (n.443-3546C>G)
c.*319C>G (n.*319C>G)
c.183C>G (p.Pro61=)
c.519C>G (p.Pro173=)
6g.31933773C>TCA363496769C2c.420C>T (p.Pro140=)
c.237C>T (p.Pro79=)
c.606C>T (p.Pro202=)
c.101C>T (p.Pro34Leu)
c.201C>T (p.Pro67=)
n.326C>T
n.461C>T
c.210C>T (p.Pro70=)
c.200C>T
c.443-3546C>T (n.443-3546C>T)
c.*319C>T (n.*319C>T)
c.183C>T (p.Pro61=)
c.519C>T (p.Pro173=)
6g.31933774A>CCA363496773C2c.421A>C (p.Ile141Leu)
c.238A>C (p.Ile80Leu)
c.607A>C (p.Ile203Leu)
c.102A>C (p.Pro34=)
c.202A>C (p.Ile68Leu)
n.327A>C
n.462A>C
c.211A>C (p.Ile71Leu)
c.201A>C
c.443-3545A>C (n.443-3545A>C)
c.*320A>C (n.*320A>C)
c.184A>C (p.Ile62Leu)
c.520A>C (p.Ile174Leu)
6g.31933774A>GCA363496780C2c.421A>G (p.Ile141Val)
c.238A>G (p.Ile80Val)
c.607A>G (p.Ile203Val)
c.102A>G (p.Pro34=)
c.202A>G (p.Ile68Val)
n.327A>G
n.462A>G
c.211A>G (p.Ile71Val)
c.201A>G
c.443-3545A>G (n.443-3545A>G)
c.*320A>G (n.*320A>G)
c.184A>G (p.Ile62Val)
c.520A>G (p.Ile174Val)
6g.31933774A>TCA363496777C2c.421A>T (p.Ile141Phe)
c.238A>T (p.Ile80Phe)
c.607A>T (p.Ile203Phe)
c.102A>T (p.Pro34=)
c.202A>T (p.Ile68Phe)
n.327A>T
n.462A>T
c.211A>T (p.Ile71Phe)
c.201A>T
c.443-3545A>T (n.443-3545A>T)
c.*320A>T (n.*320A>T)
c.184A>T (p.Ile62Phe)
c.520A>T (p.Ile174Phe)
6g.31933775T>ACA363496784C2c.422T>A (p.Ile141Asn)
c.239T>A (p.Ile80Asn)
c.608T>A (p.Ile203Asn)
c.103T>A (p.Ser35Thr)
c.203T>A (p.Ile68Asn)
n.328T>A
n.463T>A
c.212T>A (p.Ile71Asn)
c.202T>A
c.443-3544T>A (n.443-3544T>A)
c.*321T>A (n.*321T>A)
c.185T>A (p.Ile62Asn)
c.521T>A (p.Ile174Asn)
6g.31933775T>CCA363496787C2c.422T>C (p.Ile141Thr)
c.239T>C (p.Ile80Thr)
c.608T>C (p.Ile203Thr)
c.103T>C (p.Ser35Pro)
c.203T>C (p.Ile68Thr)
n.328T>C
n.463T>C
c.212T>C (p.Ile71Thr)
c.202T>C
c.443-3544T>C (n.443-3544T>C)
c.*321T>C (n.*321T>C)
c.185T>C (p.Ile62Thr)
c.521T>C (p.Ile174Thr)
6g.31933775T>GCA363496790C2c.422T>G (p.Ile141Ser)
c.239T>G (p.Ile80Ser)
c.608T>G (p.Ile203Ser)
c.103T>G (p.Ser35Ala)
c.203T>G (p.Ile68Ser)
n.328T>G
n.463T>G
c.212T>G (p.Ile71Ser)
c.202T>G
c.443-3544T>G (n.443-3544T>G)
c.*321T>G (n.*321T>G)
c.185T>G (p.Ile62Ser)
c.521T>G (p.Ile174Ser)
6g.31933776C>ACA363496793C2c.423C>A (p.Ile141=)
c.240C>A (p.Ile80=)
c.609C>A (p.Ile203=)
c.104C>A (p.Ser35Tyr)
c.204C>A (p.Ile68=)
n.329C>A
n.464C>A
c.213C>A (p.Ile71=)
c.203C>A
c.443-3543C>A (n.443-3543C>A)
c.*322C>A (n.*322C>A)
c.186C>A (p.Ile62=)
c.522C>A (p.Ile174=)
 gnomAD v4
6g.31933776C=CA1619369854C2c.423C= (p.Ile141=)
c.240C= (p.Ile80=)
c.609C= (p.Ile203=)
c.104C= (p.Ser35=)
c.204C= (p.Ile68=)
n.329C=
n.464C=
c.213C= (p.Ile71=)
c.203C=
c.443-3543C= (n.443-3543C=)
c.*322C= (n.*322C=)
c.186C= (p.Ile62=)
c.522C= (p.Ile174=)
6g.31933776C>GCA363496795C2c.423C>G (p.Ile141Met)
c.240C>G (p.Ile80Met)
c.609C>G (p.Ile203Met)
c.104C>G (p.Ser35Cys)
c.204C>G (p.Ile68Met)
n.329C>G
n.464C>G
c.213C>G (p.Ile71Met)
c.203C>G
c.443-3543C>G (n.443-3543C>G)
c.*322C>G (n.*322C>G)
c.186C>G (p.Ile62Met)
c.522C>G (p.Ile174Met)
6g.31933776C>TCA3727440C2c.423C>T (p.Ile141=)
c.240C>T (p.Ile80=)
c.609C>T (p.Ile203=)
c.104C>T (p.Ser35Phe)
c.204C>T (p.Ile68=)
n.329C>T
n.464C>T
c.213C>T (p.Ile71=)
c.203C>T
c.443-3543C>T (n.443-3543C>T)
c.*322C>T (n.*322C>T)
c.186C>T (p.Ile62=)
c.522C>T (p.Ile174=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933777T>ACA363496809C2c.424T>A (p.Cys142Ser)
c.241T>A (p.Cys81Ser)
c.610T>A (p.Cys204Ser)
c.105T>A (p.Ser35=)
c.205T>A (p.Cys69Ser)
n.330T>A
n.465T>A
c.214T>A (p.Cys72Ser)
c.204T>A
c.443-3542T>A (n.443-3542T>A)
c.*323T>A (n.*323T>A)
c.187T>A (p.Cys63Ser)
c.523T>A (p.Cys175Ser)
6g.31933777T>CCA363496806C2c.424T>C (p.Cys142Arg)
c.241T>C (p.Cys81Arg)
c.610T>C (p.Cys204Arg)
c.105T>C (p.Ser35=)
c.205T>C (p.Cys69Arg)
n.330T>C
n.465T>C
c.214T>C (p.Cys72Arg)
c.204T>C
c.443-3542T>C (n.443-3542T>C)
c.*323T>C (n.*323T>C)
c.187T>C (p.Cys63Arg)
c.523T>C (p.Cys175Arg)
6g.31933777T>GCA363496802C2c.424T>G (p.Cys142Gly)
c.241T>G (p.Cys81Gly)
c.610T>G (p.Cys204Gly)
c.105T>G (p.Ser35=)
c.205T>G (p.Cys69Gly)
n.330T>G
n.465T>G
c.214T>G (p.Cys72Gly)
c.204T>G
c.443-3542T>G (n.443-3542T>G)
c.*323T>G (n.*323T>G)
c.187T>G (p.Cys63Gly)
c.523T>G (p.Cys175Gly)
6g.31933778G>ACA363496813C2c.425G>A (p.Cys142Tyr)
c.242G>A (p.Cys81Tyr)
c.611G>A (p.Cys204Tyr)
c.106G>A (p.Ala36Thr)
c.206G>A (p.Cys69Tyr)
n.331G>A
n.466G>A
c.215G>A (p.Cys72Tyr)
c.205G>A
c.443-3541G>A (n.443-3541G>A)
c.*324G>A (n.*324G>A)
c.188G>A (p.Cys63Tyr)
c.524G>A (p.Cys175Tyr)
6g.31933778G>CCA363496819C2c.425G>C (p.Cys142Ser)
c.242G>C (p.Cys81Ser)
c.611G>C (p.Cys204Ser)
c.106G>C (p.Ala36Pro)
c.206G>C (p.Cys69Ser)
n.331G>C
n.466G>C
c.215G>C (p.Cys72Ser)
c.205G>C
c.443-3541G>C (n.443-3541G>C)
c.*324G>C (n.*324G>C)
c.188G>C (p.Cys63Ser)
c.524G>C (p.Cys175Ser)
6g.31933778G>TCA363496820C2c.425G>T (p.Cys142Phe)
c.242G>T (p.Cys81Phe)
c.611G>T (p.Cys204Phe)
c.106G>T (p.Ala36Ser)
c.206G>T (p.Cys69Phe)
n.331G>T
n.466G>T
c.215G>T (p.Cys72Phe)
c.205G>T
c.443-3541G>T (n.443-3541G>T)
c.*324G>T (n.*324G>T)
c.188G>T (p.Cys63Phe)
c.524G>T (p.Cys175Phe)
6g.31933779C>ACA363496825C2c.426C>A (p.Cys142Ter)
c.243C>A (p.Cys81Ter)
c.612C>A (p.Cys204Ter)
c.107C>A (p.Ala36Asp)
c.207C>A (p.Cys69Ter)
n.332C>A
n.467C>A
c.216C>A (p.Cys72Ter)
c.206C>A
c.443-3540C>A (n.443-3540C>A)
c.*325C>A (n.*325C>A)
c.189C>A (p.Cys63Ter)
c.525C>A (p.Cys175Ter)
6g.31933779C>GCA363496828C2c.426C>G (p.Cys142Trp)
c.243C>G (p.Cys81Trp)
c.612C>G (p.Cys204Trp)
c.107C>G (p.Ala36Gly)
c.207C>G (p.Cys69Trp)
n.332C>G
n.467C>G
c.216C>G (p.Cys72Trp)
c.206C>G
c.443-3540C>G (n.443-3540C>G)
c.*325C>G (n.*325C>G)
c.189C>G (p.Cys63Trp)
c.525C>G (p.Cys175Trp)
6g.31933779C>TCA363496830C2c.426C>T (p.Cys142=)
c.243C>T (p.Cys81=)
c.612C>T (p.Cys204=)
c.107C>T (p.Ala36Val)
c.207C>T (p.Cys69=)
n.332C>T
n.467C>T
c.216C>T (p.Cys72=)
c.206C>T
c.443-3540C>T (n.443-3540C>T)
c.*325C>T (n.*325C>T)
c.189C>T (p.Cys63=)
c.525C>T (p.Cys175=)
6g.31933780C>ACA363496837C2c.427C>A (p.Arg143Ser)
c.244C>A (p.Arg82Ser)
c.613C>A (p.Arg205Ser)
c.108C>A (p.Ala36=)
c.208C>A (p.Arg70Ser)
n.333C>A
n.468C>A
c.217C>A (p.Arg73Ser)
c.207C>A
c.443-3539C>A (n.443-3539C>A)
c.*326C>A (n.*326C>A)
c.190C>A (p.Arg64Ser)
c.526C>A (p.Arg176Ser)
6g.31933780C=CA1619369855C2c.427C= (p.Arg143=)
c.244C= (p.Arg82=)
c.613C= (p.Arg205=)
c.108C= (p.Ala36=)
c.208C= (p.Arg70=)
n.333C=
n.468C=
c.217C= (p.Arg73=)
c.207C=
c.443-3539C= (n.443-3539C=)
c.*326C= (n.*326C=)
c.190C= (p.Arg64=)
c.526C= (p.Arg176=)
6g.31933780C>GCA363496842C2c.427C>G (p.Arg143Gly)
c.244C>G (p.Arg82Gly)
c.613C>G (p.Arg205Gly)
c.108C>G (p.Ala36=)
c.208C>G (p.Arg70Gly)
n.333C>G
n.468C>G
c.217C>G (p.Arg73Gly)
c.207C>G
c.443-3539C>G (n.443-3539C>G)
c.*326C>G (n.*326C>G)
c.190C>G (p.Arg64Gly)
c.526C>G (p.Arg176Gly)
6g.31933780C>TCA3727441C2c.427C>T (p.Arg143Cys)
c.244C>T (p.Arg82Cys)
c.613C>T (p.Arg205Cys)
c.108C>T (p.Ala36=)
c.208C>T (p.Arg70Cys)
n.333C>T
n.468C>T
c.217C>T (p.Arg73Cys)
c.207C>T
c.443-3539C>T (n.443-3539C>T)
c.*326C>T (n.*326C>T)
c.190C>T (p.Arg64Cys)
c.526C>T (p.Arg176Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.31933781G>ACA3727442C2c.428G>A (p.Arg143His)
c.245G>A (p.Arg82His)
c.614G>A (p.Arg205His)
c.109G>A (p.Ala37Thr)
c.209G>A (p.Arg70His)
n.334G>A
n.469G>A
c.218G>A (p.Arg73His)
c.208G>A
c.443-3538G>A (n.443-3538G>A)
c.*327G>A (n.*327G>A)
c.191G>A (p.Arg64His)
c.527G>A (p.Arg176His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933781G>CCA363496855C2c.428G>C (p.Arg143Pro)
c.245G>C (p.Arg82Pro)
c.614G>C (p.Arg205Pro)
c.109G>C (p.Ala37Pro)
c.209G>C (p.Arg70Pro)
n.334G>C
n.469G>C
c.218G>C (p.Arg73Pro)
c.208G>C
c.443-3538G>C (n.443-3538G>C)
c.*327G>C (n.*327G>C)
c.191G>C (p.Arg64Pro)
c.527G>C (p.Arg176Pro)
 gnomAD v4
6g.31933781G=CA1619369856C2c.428G= (p.Arg143=)
c.245G= (p.Arg82=)
c.614G= (p.Arg205=)
c.109G= (p.Ala37=)
c.209G= (p.Arg70=)
n.334G=
n.469G=
c.218G= (p.Arg73=)
c.208G=
c.443-3538G= (n.443-3538G=)
c.*327G= (n.*327G=)
c.191G= (p.Arg64=)
c.527G= (p.Arg176=)
6g.31933781G>TCA363496857C2c.428G>T (p.Arg143Leu)
c.245G>T (p.Arg82Leu)
c.614G>T (p.Arg205Leu)
c.109G>T (p.Ala37Ser)
c.209G>T (p.Arg70Leu)
n.334G>T
n.469G>T
c.218G>T (p.Arg73Leu)
c.208G>T
c.443-3538G>T (n.443-3538G>T)
c.*327G>T (n.*327G>T)
c.191G>T (p.Arg64Leu)
c.527G>T (p.Arg176Leu)
6g.31933782C>ACA363496860C2c.429C>A (p.Arg143=)
c.246C>A (p.Arg82=)
c.615C>A (p.Arg205=)
c.110C>A (p.Ala37Asp)
c.210C>A (p.Arg70=)
n.335C>A
n.470C>A
c.219C>A (p.Arg73=)
c.209C>A
c.443-3537C>A (n.443-3537C>A)
c.*328C>A (n.*328C>A)
c.192C>A (p.Arg64=)
c.528C>A (p.Arg176=)
6g.31933782C>GCA363496863C2c.429C>G (p.Arg143=)
c.246C>G (p.Arg82=)
c.615C>G (p.Arg205=)
c.110C>G (p.Ala37Gly)
c.210C>G (p.Arg70=)
n.335C>G
n.470C>G
c.219C>G (p.Arg73=)
c.209C>G
c.443-3537C>G (n.443-3537C>G)
c.*328C>G (n.*328C>G)
c.192C>G (p.Arg64=)
c.528C>G (p.Arg176=)
6g.31933782C>TCA363496864C2c.429C>T (p.Arg143=)
c.246C>T (p.Arg82=)
c.615C>T (p.Arg205=)
c.110C>T (p.Ala37Val)
c.210C>T (p.Arg70=)
n.335C>T
n.470C>T
c.219C>T (p.Arg73=)
c.209C>T
c.443-3537C>T (n.443-3537C>T)
c.*328C>T (n.*328C>T)
c.192C>T (p.Arg64=)
c.528C>T (p.Arg176=)
 gnomAD v4
6g.31933783C>ACA363496865C2c.430C>A (p.Gln144Lys)
c.247C>A (p.Gln83Lys)
c.616C>A (p.Gln206Lys)
c.111C>A (p.Ala37=)
c.211C>A (p.Gln71Lys)
n.336C>A
n.471C>A
c.220C>A (p.Gln74Lys)
c.210C>A
c.443-3536C>A (n.443-3536C>A)
c.*329C>A (n.*329C>A)
c.193C>A (p.Gln65Lys)
c.529C>A (p.Gln177Lys)
6g.31933783C=CA1619369857C2c.430C= (p.Gln144=)
c.247C= (p.Gln83=)
c.616C= (p.Gln206=)
c.111C= (p.Ala37=)
c.211C= (p.Gln71=)
n.336C=
n.471C=
c.220C= (p.Gln74=)
c.210C=
c.443-3536C= (n.443-3536C=)
c.*329C= (n.*329C=)
c.193C= (p.Gln65=)
c.529C= (p.Gln177=)
6g.31933783C>GCA3727443C2c.430C>G (p.Gln144Glu)
c.247C>G (p.Gln83Glu)
c.616C>G (p.Gln206Glu)
c.111C>G (p.Ala37=)
c.211C>G (p.Gln71Glu)
n.336C>G
n.471C>G
c.220C>G (p.Gln74Glu)
c.210C>G
c.443-3536C>G (n.443-3536C>G)
c.*329C>G (n.*329C>G)
c.193C>G (p.Gln65Glu)
c.529C>G (p.Gln177Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933783C>TCA363496866C2c.430C>T (p.Gln144Ter)
c.247C>T (p.Gln83Ter)
c.616C>T (p.Gln206Ter)
c.111C>T (p.Ala37=)
c.211C>T (p.Gln71Ter)
n.336C>T
n.471C>T
c.220C>T (p.Gln74Ter)
c.210C>T
c.443-3536C>T (n.443-3536C>T)
c.*329C>T (n.*329C>T)
c.193C>T (p.Gln65Ter)
c.529C>T (p.Gln177Ter)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched