Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.20349050A>CCA394987014UMODc.251T>G (p.Val84Gly)
c.350T>G (p.Val117Gly)
c.398T>G (p.Val133Gly)
c.320T>G (p.Val107Gly)
c.413T>G (p.Val138Gly)
c.335T>G (p.Val112Gly)
n.476T>G
16g.20349050A>GCA394987015UMODc.251T>C (p.Val84Ala)
c.350T>C (p.Val117Ala)
c.398T>C (p.Val133Ala)
c.320T>C (p.Val107Ala)
c.413T>C (p.Val138Ala)
c.335T>C (p.Val112Ala)
n.476T>C
16g.20349050A>TCA394987016UMODc.251T>A (p.Val84Glu)
c.350T>A (p.Val117Glu)
c.398T>A (p.Val133Glu)
c.320T>A (p.Val107Glu)
c.413T>A (p.Val138Glu)
c.335T>A (p.Val112Glu)
n.476T>A
16g.20349051C>ACA394987018UMODc.250G>T (p.Val84Leu)
c.349G>T (p.Val117Leu)
c.397G>T (p.Val133Leu)
c.319G>T (p.Val107Leu)
c.412G>T (p.Val138Leu)
c.334G>T (p.Val112Leu)
n.475G>T
16g.20349051C=CA2211943452UMODc.250G= (p.Val84=)
c.349G= (p.Val117=)
c.397G= (p.Val133=)
c.319G= (p.Val107=)
c.412G= (p.Val138=)
c.334G= (p.Val112=)
n.475G=
16g.20349051C>GCA394987022UMODc.250G>C (p.Val84Leu)
c.349G>C (p.Val117Leu)
c.397G>C (p.Val133Leu)
c.319G>C (p.Val107Leu)
c.412G>C (p.Val138Leu)
c.334G>C (p.Val112Leu)
n.475G>C
16g.20349051C>TCA7939475UMODc.250G>A (p.Val84Ile)
c.349G>A (p.Val117Ile)
c.397G>A (p.Val133Ile)
c.319G>A (p.Val107Ile)
c.412G>A (p.Val138Ile)
c.334G>A (p.Val112Ile)
n.475G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.20349052G>ACA494097149UMODc.249C>T (p.Cys83=)
c.348C>T (p.Cys116=)
c.396C>T (p.Cys132=)
c.318C>T (p.Cys106=)
c.411C>T (p.Cys137=)
c.333C>T (p.Cys111=)
n.474C>T
 dbSNP gnomAD v4 COSMIC COSMIC
16g.20349052G>CCA394987043UMODc.249C>G (p.Cys83Trp)
c.348C>G (p.Cys116Trp)
c.396C>G (p.Cys132Trp)
c.318C>G (p.Cys106Trp)
c.411C>G (p.Cys137Trp)
c.333C>G (p.Cys111Trp)
n.474C>G
 ClinVar dbSNP
16g.20349052G=CA2211943456UMODc.249C= (p.Cys83=)
c.348C= (p.Cys116=)
c.396C= (p.Cys132=)
c.318C= (p.Cys106=)
c.411C= (p.Cys137=)
c.333C= (p.Cys111=)
n.474C=
16g.20349052G>TCA394987044UMODc.249C>A (p.Cys83Ter)
c.348C>A (p.Cys116Ter)
c.396C>A (p.Cys132Ter)
c.318C>A (p.Cys106Ter)
c.411C>A (p.Cys137Ter)
c.333C>A (p.Cys111Ter)
n.474C>A
 gnomAD v4
16g.20349053C>ACA394987045UMODc.248G>T (p.Cys83Phe)
c.347G>T (p.Cys116Phe)
c.395G>T (p.Cys132Phe)
c.317G>T (p.Cys106Phe)
c.410G>T (p.Cys137Phe)
c.332G>T (p.Cys111Phe)
n.473G>T
16g.20349053C>GCA394987046UMODc.248G>C (p.Cys83Ser)
c.347G>C (p.Cys116Ser)
c.395G>C (p.Cys132Ser)
c.317G>C (p.Cys106Ser)
c.410G>C (p.Cys137Ser)
c.332G>C (p.Cys111Ser)
n.473G>C
16g.20349053C>TCA394987050UMODc.248G>A (p.Cys83Tyr)
c.347G>A (p.Cys116Tyr)
c.395G>A (p.Cys132Tyr)
c.317G>A (p.Cys106Tyr)
c.410G>A (p.Cys137Tyr)
c.332G>A (p.Cys111Tyr)
n.473G>A
 gnomAD v4
16g.20349054A=CA2211943461UMODc.247T= (p.Cys83=)
c.346T= (p.Cys116=)
c.394T= (p.Cys132=)
c.316T= (p.Cys106=)
c.409T= (p.Cys137=)
c.331T= (p.Cys111=)
n.472T=
16g.20349054A>CCA394987054UMODc.247T>G (p.Cys83Gly)
c.346T>G (p.Cys116Gly)
c.394T>G (p.Cys132Gly)
c.316T>G (p.Cys106Gly)
c.409T>G (p.Cys137Gly)
c.331T>G (p.Cys111Gly)
n.472T>G
16g.20349054A>GCA394987063UMODc.247T>C (p.Cys83Arg)
c.346T>C (p.Cys116Arg)
c.394T>C (p.Cys132Arg)
c.316T>C (p.Cys106Arg)
c.409T>C (p.Cys137Arg)
c.331T>C (p.Cys111Arg)
n.472T>C
 dbSNP gnomAD v3 gnomAD v4
16g.20349054A>TCA394987066UMODc.247T>A (p.Cys83Ser)
c.346T>A (p.Cys116Ser)
c.394T>A (p.Cys132Ser)
c.316T>A (p.Cys106Ser)
c.409T>A (p.Cys137Ser)
c.331T>A (p.Cys111Ser)
n.472T>A
 ClinVar
16g.20349055G>ACA494097154UMODc.246C>T (p.Ser82=)
c.345C>T (p.Ser115=)
c.393C>T (p.Ser131=)
c.315C>T (p.Ser105=)
c.408C>T (p.Ser136=)
c.330C>T (p.Ser110=)
n.471C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20349055G>CCA394987067UMODc.246C>G (p.Ser82Arg)
c.345C>G (p.Ser115Arg)
c.393C>G (p.Ser131Arg)
c.315C>G (p.Ser105Arg)
c.408C>G (p.Ser136Arg)
c.330C>G (p.Ser110Arg)
n.471C>G
16g.20349055G=CA2211943465UMODc.246C= (p.Ser82=)
c.345C= (p.Ser115=)
c.393C= (p.Ser131=)
c.315C= (p.Ser105=)
c.408C= (p.Ser136=)
c.330C= (p.Ser110=)
n.471C=
16g.20349055G>TCA394987068UMODc.246C>A (p.Ser82Arg)
c.345C>A (p.Ser115Arg)
c.393C>A (p.Ser131Arg)
c.315C>A (p.Ser105Arg)
c.408C>A (p.Ser136Arg)
c.330C>A (p.Ser110Arg)
n.471C>A
16g.20349056C>ACA394987069UMODc.245G>T (p.Ser82Ile)
c.344G>T (p.Ser115Ile)
c.392G>T (p.Ser131Ile)
c.314G>T (p.Ser105Ile)
c.407G>T (p.Ser136Ile)
c.329G>T (p.Ser110Ile)
n.470G>T
16g.20349056C>GCA394987070UMODc.245G>C (p.Ser82Thr)
c.344G>C (p.Ser115Thr)
c.392G>C (p.Ser131Thr)
c.314G>C (p.Ser105Thr)
c.407G>C (p.Ser136Thr)
c.329G>C (p.Ser110Thr)
n.470G>C
16g.20349056C>TCA394987072UMODc.245G>A (p.Ser82Asn)
c.344G>A (p.Ser115Asn)
c.392G>A (p.Ser131Asn)
c.314G>A (p.Ser105Asn)
c.407G>A (p.Ser136Asn)
c.329G>A (p.Ser110Asn)
n.470G>A
 gnomAD v4
16g.20349057T>ACA394987075UMODc.244A>T (p.Ser82Cys)
c.343A>T (p.Ser115Cys)
c.391A>T (p.Ser131Cys)
c.313A>T (p.Ser105Cys)
c.406A>T (p.Ser136Cys)
c.328A>T (p.Ser110Cys)
n.469A>T
16g.20349057T>CCA394987078UMODc.244A>G (p.Ser82Gly)
c.343A>G (p.Ser115Gly)
c.391A>G (p.Ser131Gly)
c.313A>G (p.Ser105Gly)
c.406A>G (p.Ser136Gly)
c.328A>G (p.Ser110Gly)
n.469A>G
16g.20349057T>GCA394987083UMODc.244A>C (p.Ser82Arg)
c.343A>C (p.Ser115Arg)
c.391A>C (p.Ser131Arg)
c.313A>C (p.Ser105Arg)
c.406A>C (p.Ser136Arg)
c.328A>C (p.Ser110Arg)
n.469A>C
16g.20349058G>ACA494097159UMODc.243C>T (p.Ser81=)
c.342C>T (p.Ser114=)
c.390C>T (p.Ser130=)
c.312C>T (p.Ser104=)
c.405C>T (p.Ser135=)
c.327C>T (p.Ser109=)
n.468C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20349058G>CCA394987092UMODc.243C>G (p.Ser81Arg)
c.342C>G (p.Ser114Arg)
c.390C>G (p.Ser130Arg)
c.312C>G (p.Ser104Arg)
c.405C>G (p.Ser135Arg)
c.327C>G (p.Ser109Arg)
n.468C>G
16g.20349058G=CA2211943471UMODc.243C= (p.Ser81=)
c.342C= (p.Ser114=)
c.390C= (p.Ser130=)
c.312C= (p.Ser104=)
c.405C= (p.Ser135=)
c.327C= (p.Ser109=)
n.468C=
16g.20349058G>TCA394987095UMODc.243C>A (p.Ser81Arg)
c.342C>A (p.Ser114Arg)
c.390C>A (p.Ser130Arg)
c.312C>A (p.Ser104Arg)
c.405C>A (p.Ser135Arg)
c.327C>A (p.Ser109Arg)
n.468C>A
16g.20349059C>ACA394987101UMODc.242G>T (p.Ser81Ile)
c.341G>T (p.Ser114Ile)
c.389G>T (p.Ser130Ile)
c.311G>T (p.Ser104Ile)
c.404G>T (p.Ser135Ile)
c.326G>T (p.Ser109Ile)
n.467G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20349059C=CA2211943473UMODc.242G= (p.Ser81=)
c.341G= (p.Ser114=)
c.389G= (p.Ser130=)
c.311G= (p.Ser104=)
c.404G= (p.Ser135=)
c.326G= (p.Ser109=)
n.467G=
16g.20349059C>GCA394987103UMODc.242G>C (p.Ser81Thr)
c.341G>C (p.Ser114Thr)
c.389G>C (p.Ser130Thr)
c.311G>C (p.Ser104Thr)
c.404G>C (p.Ser135Thr)
c.326G>C (p.Ser109Thr)
n.467G>C
16g.20349059C>TCA394987106UMODc.242G>A (p.Ser81Asn)
c.341G>A (p.Ser114Asn)
c.389G>A (p.Ser130Asn)
c.311G>A (p.Ser104Asn)
c.404G>A (p.Ser135Asn)
c.326G>A (p.Ser109Asn)
n.467G>A
16g.20349060T>ACA394987108UMODc.241A>T (p.Ser81Cys)
c.340A>T (p.Ser114Cys)
c.388A>T (p.Ser130Cys)
c.310A>T (p.Ser104Cys)
c.403A>T (p.Ser135Cys)
c.325A>T (p.Ser109Cys)
n.466A>T
16g.20349060T>CCA394987114UMODc.241A>G (p.Ser81Gly)
c.340A>G (p.Ser114Gly)
c.388A>G (p.Ser130Gly)
c.310A>G (p.Ser104Gly)
c.403A>G (p.Ser135Gly)
c.325A>G (p.Ser109Gly)
n.466A>G
16g.20349060T>GCA394987121UMODc.241A>C (p.Ser81Arg)
c.340A>C (p.Ser114Arg)
c.388A>C (p.Ser130Arg)
c.310A>C (p.Ser104Arg)
c.403A>C (p.Ser135Arg)
c.325A>C (p.Ser109Arg)
n.466A>C
16g.20349061G>ACA494097162UMODc.240C>T (p.Asn80=)
c.339C>T (p.Asn113=)
c.387C>T (p.Asn129=)
c.309C>T (p.Asn103=)
c.402C>T (p.Asn134=)
c.324C>T (p.Asn108=)
n.465C>T
16g.20349061G>CCA394987127UMODc.240C>G (p.Asn80Lys)
c.339C>G (p.Asn113Lys)
c.387C>G (p.Asn129Lys)
c.309C>G (p.Asn103Lys)
c.402C>G (p.Asn134Lys)
c.324C>G (p.Asn108Lys)
n.465C>G
16g.20349061G>TCA394987128UMODc.240C>A (p.Asn80Lys)
c.339C>A (p.Asn113Lys)
c.387C>A (p.Asn129Lys)
c.309C>A (p.Asn103Lys)
c.402C>A (p.Asn134Lys)
c.324C>A (p.Asn108Lys)
n.465C>A
16g.20349062T>ACA394987131UMODc.239A>T (p.Asn80Ile)
c.338A>T (p.Asn113Ile)
c.386A>T (p.Asn129Ile)
c.308A>T (p.Asn103Ile)
c.401A>T (p.Asn134Ile)
c.323A>T (p.Asn108Ile)
n.464A>T
16g.20349062T>CCA394987139UMODc.239A>G (p.Asn80Ser)
c.338A>G (p.Asn113Ser)
c.386A>G (p.Asn129Ser)
c.308A>G (p.Asn103Ser)
c.401A>G (p.Asn134Ser)
c.323A>G (p.Asn108Ser)
n.464A>G
 dbSNP gnomAD v3 gnomAD v4
16g.20349062T>GCA394987138UMODc.239A>C (p.Asn80Thr)
c.338A>C (p.Asn113Thr)
c.386A>C (p.Asn129Thr)
c.308A>C (p.Asn103Thr)
c.401A>C (p.Asn134Thr)
c.323A>C (p.Asn108Thr)
n.464A>C
16g.20349062T=CA2211943477UMODc.239A= (p.Asn80=)
c.338A= (p.Asn113=)
c.386A= (p.Asn129=)
c.308A= (p.Asn103=)
c.401A= (p.Asn134=)
c.323A= (p.Asn108=)
n.464A=
16g.20349063T>ACA394987140UMODc.238A>T (p.Asn80Tyr)
c.337A>T (p.Asn113Tyr)
c.385A>T (p.Asn129Tyr)
c.307A>T (p.Asn103Tyr)
c.400A>T (p.Asn134Tyr)
c.322A>T (p.Asn108Tyr)
n.463A>T
16g.20349063T>CCA394987143UMODc.238A>G (p.Asn80Asp)
c.337A>G (p.Asn113Asp)
c.385A>G (p.Asn129Asp)
c.307A>G (p.Asn103Asp)
c.400A>G (p.Asn134Asp)
c.322A>G (p.Asn108Asp)
n.463A>G
16g.20349063T>GCA394987141UMODc.238A>C (p.Asn80His)
c.337A>C (p.Asn113His)
c.385A>C (p.Asn129His)
c.307A>C (p.Asn103His)
c.400A>C (p.Asn134His)
c.322A>C (p.Asn108His)
n.463A>C
16g.20349064G>ACA494097169UMODc.237C>T (p.Ala79=)
c.336C>T (p.Ala112=)
c.384C>T (p.Ala128=)
c.306C>T (p.Ala102=)
c.399C>T (p.Ala133=)
c.321C>T (p.Ala107=)
n.462C>T
 gnomAD v4
16g.20349064G>CCA494097168UMODc.237C>G (p.Ala79=)
c.336C>G (p.Ala112=)
c.384C>G (p.Ala128=)
c.306C>G (p.Ala102=)
c.399C>G (p.Ala133=)
c.321C>G (p.Ala107=)
n.462C>G
16g.20349064G>TCA494097167UMODc.237C>A (p.Ala79=)
c.336C>A (p.Ala112=)
c.384C>A (p.Ala128=)
c.306C>A (p.Ala102=)
c.399C>A (p.Ala133=)
c.321C>A (p.Ala107=)
n.462C>A
16g.20349065G>ACA394987146UMODc.236C>T (p.Ala79Val)
c.335C>T (p.Ala112Val)
c.383C>T (p.Ala128Val)
c.305C>T (p.Ala102Val)
c.398C>T (p.Ala133Val)
c.320C>T (p.Ala107Val)
n.461C>T
16g.20349065G>CCA394987148UMODc.236C>G (p.Ala79Gly)
c.335C>G (p.Ala112Gly)
c.383C>G (p.Ala128Gly)
c.305C>G (p.Ala102Gly)
c.398C>G (p.Ala133Gly)
c.320C>G (p.Ala107Gly)
n.461C>G
16g.20349065G>TCA394987155UMODc.236C>A (p.Ala79Asp)
c.335C>A (p.Ala112Asp)
c.383C>A (p.Ala128Asp)
c.305C>A (p.Ala102Asp)
c.398C>A (p.Ala133Asp)
c.320C>A (p.Ala107Asp)
n.461C>A
16g.20349066C>ACA394987159UMODc.235G>T (p.Ala79Ser)
c.334G>T (p.Ala112Ser)
c.382G>T (p.Ala128Ser)
c.304G>T (p.Ala102Ser)
c.397G>T (p.Ala133Ser)
c.319G>T (p.Ala107Ser)
n.460G>T
 dbSNP gnomAD v2 gnomAD v4
16g.20349066C=CA2211943479UMODc.235G= (p.Ala79=)
c.334G= (p.Ala112=)
c.382G= (p.Ala128=)
c.304G= (p.Ala102=)
c.397G= (p.Ala133=)
c.319G= (p.Ala107=)
n.460G=
16g.20349066C>GCA394987160UMODc.235G>C (p.Ala79Pro)
c.334G>C (p.Ala112Pro)
c.382G>C (p.Ala128Pro)
c.304G>C (p.Ala102Pro)
c.397G>C (p.Ala133Pro)
c.319G>C (p.Ala107Pro)
n.460G>C
16g.20349066C>TCA279300225UMODc.235G>A (p.Ala79Thr)
c.334G>A (p.Ala112Thr)
c.382G>A (p.Ala128Thr)
c.304G>A (p.Ala102Thr)
c.397G>A (p.Ala133Thr)
c.319G>A (p.Ala107Thr)
n.460G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20349067G>ACA494097175UMODc.234C>T (p.Ser78=)
c.333C>T (p.Ser111=)
c.381C>T (p.Ser127=)
c.303C>T (p.Ser101=)
c.396C>T (p.Ser132=)
c.318C>T (p.Ser106=)
n.459C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20349067G>CCA494097176UMODc.234C>G (p.Ser78=)
c.333C>G (p.Ser111=)
c.381C>G (p.Ser127=)
c.303C>G (p.Ser101=)
c.396C>G (p.Ser132=)
c.318C>G (p.Ser106=)
n.459C>G
 gnomAD v4
16g.20349067G=CA2211943482UMODc.234C= (p.Ser78=)
c.333C= (p.Ser111=)
c.381C= (p.Ser127=)
c.303C= (p.Ser101=)
c.396C= (p.Ser132=)
c.318C= (p.Ser106=)
n.459C=
16g.20349067G>TCA494097177UMODc.234C>A (p.Ser78=)
c.333C>A (p.Ser111=)
c.381C>A (p.Ser127=)
c.303C>A (p.Ser101=)
c.396C>A (p.Ser132=)
c.318C>A (p.Ser106=)
n.459C>A
 gnomAD v4
16g.20349068G>ACA394987170UMODc.233C>T (p.Ser78Phe)
c.332C>T (p.Ser111Phe)
c.380C>T (p.Ser127Phe)
c.302C>T (p.Ser101Phe)
c.395C>T (p.Ser132Phe)
c.317C>T (p.Ser106Phe)
n.458C>T
16g.20349068G>CCA394987175UMODc.233C>G (p.Ser78Cys)
c.332C>G (p.Ser111Cys)
c.380C>G (p.Ser127Cys)
c.302C>G (p.Ser101Cys)
c.395C>G (p.Ser132Cys)
c.317C>G (p.Ser106Cys)
n.458C>G
16g.20349068G>TCA394987177UMODc.233C>A (p.Ser78Tyr)
c.332C>A (p.Ser111Tyr)
c.380C>A (p.Ser127Tyr)
c.302C>A (p.Ser101Tyr)
c.395C>A (p.Ser132Tyr)
c.317C>A (p.Ser106Tyr)
n.458C>A
16g.20349069A=CA2211943487UMODc.232T= (p.Ser78=)
c.331T= (p.Ser111=)
c.379T= (p.Ser127=)
c.301T= (p.Ser101=)
c.394T= (p.Ser132=)
c.316T= (p.Ser106=)
n.457T=
16g.20349069A>CCA394987180UMODc.232T>G (p.Ser78Ala)
c.331T>G (p.Ser111Ala)
c.379T>G (p.Ser127Ala)
c.301T>G (p.Ser101Ala)
c.394T>G (p.Ser132Ala)
c.316T>G (p.Ser106Ala)
n.457T>G
16g.20349069A>GCA394987181UMODc.232T>C (p.Ser78Pro)
c.331T>C (p.Ser111Pro)
c.379T>C (p.Ser127Pro)
c.301T>C (p.Ser101Pro)
c.394T>C (p.Ser132Pro)
c.316T>C (p.Ser106Pro)
n.457T>C
 dbSNP gnomAD v4
16g.20349069A>TCA394987182UMODc.232T>A (p.Ser78Thr)
c.331T>A (p.Ser111Thr)
c.379T>A (p.Ser127Thr)
c.301T>A (p.Ser101Thr)
c.394T>A (p.Ser132Thr)
c.316T>A (p.Ser106Thr)
n.457T>A
16g.20349070G>ACA494097184UMODc.231C>T (p.Cys77=)
c.330C>T (p.Cys110=)
c.378C>T (p.Cys126=)
c.300C>T (p.Cys100=)
c.393C>T (p.Cys131=)
c.315C>T (p.Cys105=)
n.456C>T
16g.20349070G>CCA394987186UMODc.231C>G (p.Cys77Trp)
c.330C>G (p.Cys110Trp)
c.378C>G (p.Cys126Trp)
c.300C>G (p.Cys100Trp)
c.393C>G (p.Cys131Trp)
c.315C>G (p.Cys105Trp)
n.456C>G
16g.20349070G>TCA394987184UMODc.231C>A (p.Cys77Ter)
c.330C>A (p.Cys110Ter)
c.378C>A (p.Cys126Ter)
c.300C>A (p.Cys100Ter)
c.393C>A (p.Cys131Ter)
c.315C>A (p.Cys105Ter)
n.456C>A
16g.20349071C>ACA394987201UMODc.230G>T (p.Cys77Phe)
c.329G>T (p.Cys110Phe)
c.377G>T (p.Cys126Phe)
c.299G>T (p.Cys100Phe)
c.392G>T (p.Cys131Phe)
c.314G>T (p.Cys105Phe)
n.455G>T
16g.20349071C=CA2211943493UMODc.230G= (p.Cys77=)
c.329G= (p.Cys110=)
c.377G= (p.Cys126=)
c.299G= (p.Cys100=)
c.392G= (p.Cys131=)
c.314G= (p.Cys105=)
n.455G=
16g.20349071C>GCA394987202UMODc.230G>C (p.Cys77Ser)
c.329G>C (p.Cys110Ser)
c.377G>C (p.Cys126Ser)
c.299G>C (p.Cys100Ser)
c.392G>C (p.Cys131Ser)
c.314G>C (p.Cys105Ser)
n.455G>C
 ClinVar dbSNP
16g.20349071C>TCA256244UMODc.230G>A (p.Cys77Tyr)
c.329G>A (p.Cys110Tyr)
c.377G>A (p.Cys126Tyr)
c.299G>A (p.Cys100Tyr)
c.392G>A (p.Cys131Tyr)
c.314G>A (p.Cys105Tyr)
n.455G>A
 ClinVar dbSNP
16g.20349072A>CCA394987207UMODc.229T>G (p.Cys77Gly)
c.328T>G (p.Cys110Gly)
c.376T>G (p.Cys126Gly)
c.298T>G (p.Cys100Gly)
c.391T>G (p.Cys131Gly)
c.313T>G (p.Cys105Gly)
n.454T>G
16g.20349072A>GCA394987210UMODc.229T>C (p.Cys77Arg)
c.328T>C (p.Cys110Arg)
c.376T>C (p.Cys126Arg)
c.298T>C (p.Cys100Arg)
c.391T>C (p.Cys131Arg)
c.313T>C (p.Cys105Arg)
n.454T>C
 ClinVar dbSNP
16g.20349072A>TCA394987211UMODc.229T>A (p.Cys77Ser)
c.328T>A (p.Cys110Ser)
c.376T>A (p.Cys126Ser)
c.298T>A (p.Cys100Ser)
c.391T>A (p.Cys131Ser)
c.313T>A (p.Cys105Ser)
n.454T>A
16g.20349073G>ACA494097188UMODc.228C>T (p.Asn76=)
c.327C>T (p.Asn109=)
c.375C>T (p.Asn125=)
c.297C>T (p.Asn99=)
c.390C>T (p.Asn130=)
c.312C>T (p.Asn104=)
n.453C>T
16g.20349073G>CCA394987212UMODc.228C>G (p.Asn76Lys)
c.327C>G (p.Asn109Lys)
c.375C>G (p.Asn125Lys)
c.297C>G (p.Asn99Lys)
c.390C>G (p.Asn130Lys)
c.312C>G (p.Asn104Lys)
n.453C>G
16g.20349073G>TCA394987213UMODc.228C>A (p.Asn76Lys)
c.327C>A (p.Asn109Lys)
c.375C>A (p.Asn125Lys)
c.297C>A (p.Asn99Lys)
c.390C>A (p.Asn130Lys)
c.312C>A (p.Asn104Lys)
n.453C>A
 gnomAD v4
16g.20349074T>ACA394987214UMODc.227A>T (p.Asn76Ile)
c.326A>T (p.Asn109Ile)
c.374A>T (p.Asn125Ile)
c.296A>T (p.Asn99Ile)
c.389A>T (p.Asn130Ile)
c.311A>T (p.Asn104Ile)
n.452A>T
16g.20349074T>CCA394987218UMODc.227A>G (p.Asn76Ser)
c.326A>G (p.Asn109Ser)
c.374A>G (p.Asn125Ser)
c.296A>G (p.Asn99Ser)
c.389A>G (p.Asn130Ser)
c.311A>G (p.Asn104Ser)
n.452A>G
 dbSNP gnomAD v3 gnomAD v4
16g.20349074T>GCA394987228UMODc.227A>C (p.Asn76Thr)
c.326A>C (p.Asn109Thr)
c.374A>C (p.Asn125Thr)
c.296A>C (p.Asn99Thr)
c.389A>C (p.Asn130Thr)
c.311A>C (p.Asn104Thr)
n.452A>C
 dbSNP
16g.20349074T=CA2211943498UMODc.227A= (p.Asn76=)
c.326A= (p.Asn109=)
c.374A= (p.Asn125=)
c.296A= (p.Asn99=)
c.389A= (p.Asn130=)
c.311A= (p.Asn104=)
n.452A=
16g.20349075T>ACA394987235UMODc.226A>T (p.Asn76Tyr)
c.325A>T (p.Asn109Tyr)
c.373A>T (p.Asn125Tyr)
c.295A>T (p.Asn99Tyr)
c.388A>T (p.Asn130Tyr)
c.310A>T (p.Asn104Tyr)
n.451A>T
16g.20349075T>CCA7939476UMODc.226A>G (p.Asn76Asp)
c.325A>G (p.Asn109Asp)
c.373A>G (p.Asn125Asp)
c.295A>G (p.Asn99Asp)
c.388A>G (p.Asn130Asp)
c.310A>G (p.Asn104Asp)
n.451A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20349075T>GCA394987233UMODc.226A>C (p.Asn76His)
c.325A>C (p.Asn109His)
c.373A>C (p.Asn125His)
c.295A>C (p.Asn99His)
c.388A>C (p.Asn130His)
c.310A>C (p.Asn104His)
n.451A>C
16g.20349075T=CA2211943505UMODc.226A= (p.Asn76=)
c.325A= (p.Asn109=)
c.373A= (p.Asn125=)
c.295A= (p.Asn99=)
c.388A= (p.Asn130=)
c.310A= (p.Asn104=)
n.451A=
16g.20349076G>ACA494097193UMODc.225C>T (p.His75=)
c.324C>T (p.His108=)
c.372C>T (p.His124=)
c.294C>T (p.His98=)
c.387C>T (p.His129=)
c.309C>T (p.His103=)
n.450C>T
16g.20349076G>CCA394987237UMODc.225C>G (p.His75Gln)
c.324C>G (p.His108Gln)
c.372C>G (p.His124Gln)
c.294C>G (p.His98Gln)
c.387C>G (p.His129Gln)
c.309C>G (p.His103Gln)
n.450C>G
16g.20349076G=CA2211943508UMODc.225C= (p.His75=)
c.324C= (p.His108=)
c.372C= (p.His124=)
c.294C= (p.His98=)
c.387C= (p.His129=)
c.309C= (p.His103=)
n.450C=
16g.20349076G>TCA279300234UMODc.225C>A (p.His75Gln)
c.324C>A (p.His108Gln)
c.372C>A (p.His124Gln)
c.294C>A (p.His98Gln)
c.387C>A (p.His129Gln)
c.309C>A (p.His103Gln)
n.450C>A
 dbSNP
16g.20349077T>ACA394987239UMODc.224A>T (p.His75Leu)
c.323A>T (p.His108Leu)
c.371A>T (p.His124Leu)
c.293A>T (p.His98Leu)
c.386A>T (p.His129Leu)
c.308A>T (p.His103Leu)
n.449A>T
16g.20349077T>CCA394987241UMODc.224A>G (p.His75Arg)
c.323A>G (p.His108Arg)
c.371A>G (p.His124Arg)
c.293A>G (p.His98Arg)
c.386A>G (p.His129Arg)
c.308A>G (p.His103Arg)
n.449A>G
16g.20349077T>GCA394987244UMODc.224A>C (p.His75Pro)
c.323A>C (p.His108Pro)
c.371A>C (p.His124Pro)
c.293A>C (p.His98Pro)
c.386A>C (p.His129Pro)
c.308A>C (p.His103Pro)
n.449A>C
16g.20349078G>ACA394987259UMODc.223C>T (p.His75Tyr)
c.322C>T (p.His108Tyr)
c.370C>T (p.His124Tyr)
c.292C>T (p.His98Tyr)
c.385C>T (p.His129Tyr)
c.307C>T (p.His103Tyr)
n.448C>T
16g.20349078G>CCA394987264UMODc.223C>G (p.His75Asp)
c.322C>G (p.His108Asp)
c.370C>G (p.His124Asp)
c.292C>G (p.His98Asp)
c.385C>G (p.His129Asp)
c.307C>G (p.His103Asp)
n.448C>G
16g.20349078G>TCA394987267UMODc.223C>A (p.His75Asn)
c.322C>A (p.His108Asn)
c.370C>A (p.His124Asn)
c.292C>A (p.His98Asn)
c.385C>A (p.His129Asn)
c.307C>A (p.His103Asn)
n.448C>A
16g.20349079A>CCA494097198UMODc.222T>G (p.Ala74=)
c.321T>G (p.Ala107=)
c.369T>G (p.Ala123=)
c.291T>G (p.Ala97=)
c.384T>G (p.Ala128=)
c.306T>G (p.Ala102=)
n.447T>G
16g.20349079A>GCA494097199UMODc.222T>C (p.Ala74=)
c.321T>C (p.Ala107=)
c.369T>C (p.Ala123=)
c.291T>C (p.Ala97=)
c.384T>C (p.Ala128=)
c.306T>C (p.Ala102=)
n.447T>C
16g.20349079A>TCA494097200UMODc.222T>A (p.Ala74=)
c.321T>A (p.Ala107=)
c.369T>A (p.Ala123=)
c.291T>A (p.Ala97=)
c.384T>A (p.Ala128=)
c.306T>A (p.Ala102=)
n.447T>A
16g.20349080G>ACA394987287UMODc.221C>T (p.Ala74Val)
c.320C>T (p.Ala107Val)
c.368C>T (p.Ala123Val)
c.290C>T (p.Ala97Val)
c.383C>T (p.Ala128Val)
c.305C>T (p.Ala102Val)
n.446C>T
 dbSNP
16g.20349080G>CCA394987288UMODc.221C>G (p.Ala74Gly)
c.320C>G (p.Ala107Gly)
c.368C>G (p.Ala123Gly)
c.290C>G (p.Ala97Gly)
c.383C>G (p.Ala128Gly)
c.305C>G (p.Ala102Gly)
n.446C>G
16g.20349080G=CA2211943510UMODc.221C= (p.Ala74=)
c.320C= (p.Ala107=)
c.368C= (p.Ala123=)
c.290C= (p.Ala97=)
c.383C= (p.Ala128=)
c.305C= (p.Ala102=)
n.446C=
16g.20349080G>TCA394987293UMODc.221C>A (p.Ala74Asp)
c.320C>A (p.Ala107Asp)
c.368C>A (p.Ala123Asp)
c.290C>A (p.Ala97Asp)
c.383C>A (p.Ala128Asp)
c.305C>A (p.Ala102Asp)
n.446C>A
16g.20349081C>ACA394987296UMODc.220G>T (p.Ala74Ser)
c.319G>T (p.Ala107Ser)
c.367G>T (p.Ala123Ser)
c.289G>T (p.Ala97Ser)
c.382G>T (p.Ala128Ser)
c.304G>T (p.Ala102Ser)
n.445G>T
 ClinVar dbSNP
16g.20349081C=CA2211943512UMODc.220G= (p.Ala74=)
c.319G= (p.Ala107=)
c.367G= (p.Ala123=)
c.289G= (p.Ala97=)
c.382G= (p.Ala128=)
c.304G= (p.Ala102=)
n.445G=
16g.20349081C>GCA394987300UMODc.220G>C (p.Ala74Pro)
c.319G>C (p.Ala107Pro)
c.367G>C (p.Ala123Pro)
c.289G>C (p.Ala97Pro)
c.382G>C (p.Ala128Pro)
c.304G>C (p.Ala102Pro)
n.445G>C
16g.20349081C>TCA394987304UMODc.220G>A (p.Ala74Thr)
c.319G>A (p.Ala107Thr)
c.367G>A (p.Ala123Thr)
c.289G>A (p.Ala97Thr)
c.382G>A (p.Ala128Thr)
c.304G>A (p.Ala102Thr)
n.445G>A
16g.20349082T>ACA494097205UMODc.219A>T (p.Gly73=)
c.318A>T (p.Gly106=)
c.366A>T (p.Gly122=)
c.288A>T (p.Gly96=)
c.381A>T (p.Gly127=)
c.303A>T (p.Gly101=)
n.444A>T
16g.20349082T>CCA494097207UMODc.219A>G (p.Gly73=)
c.318A>G (p.Gly106=)
c.366A>G (p.Gly122=)
c.288A>G (p.Gly96=)
c.381A>G (p.Gly127=)
c.303A>G (p.Gly101=)
n.444A>G
 gnomAD v4
16g.20349082T>GCA7939477UMODc.219A>C (p.Gly73=)
c.318A>C (p.Gly106=)
c.366A>C (p.Gly122=)
c.288A>C (p.Gly96=)
c.381A>C (p.Gly127=)
c.303A>C (p.Gly101=)
n.444A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20349082T=CA2211943516UMODc.219A= (p.Gly73=)
c.318A= (p.Gly106=)
c.366A= (p.Gly122=)
c.288A= (p.Gly96=)
c.381A= (p.Gly127=)
c.303A= (p.Gly101=)
n.444A=
16g.20349083C>ACA394987313UMODc.218G>T (p.Gly73Val)
c.317G>T (p.Gly106Val)
c.365G>T (p.Gly122Val)
c.287G>T (p.Gly96Val)
c.380G>T (p.Gly127Val)
c.302G>T (p.Gly101Val)
n.443G>T
16g.20349083C>GCA394987316UMODc.218G>C (p.Gly73Ala)
c.317G>C (p.Gly106Ala)
c.365G>C (p.Gly122Ala)
c.287G>C (p.Gly96Ala)
c.380G>C (p.Gly127Ala)
c.302G>C (p.Gly101Ala)
n.443G>C
16g.20349083C>TCA394987318UMODc.218G>A (p.Gly73Glu)
c.317G>A (p.Gly106Glu)
c.365G>A (p.Gly122Glu)
c.287G>A (p.Gly96Glu)
c.380G>A (p.Gly127Glu)
c.302G>A (p.Gly101Glu)
n.443G>A
16g.20349084C>ACA394987321UMODc.217G>T (p.Gly73Ter)
c.316G>T (p.Gly106Ter)
c.364G>T (p.Gly122Ter)
c.286G>T (p.Gly96Ter)
c.379G>T (p.Gly127Ter)
c.301G>T (p.Gly101Ter)
n.442G>T
16g.20349084C=CA2211943520UMODc.217G= (p.Gly73=)
c.316G= (p.Gly106=)
c.364G= (p.Gly122=)
c.286G= (p.Gly96=)
c.379G= (p.Gly127=)
c.301G= (p.Gly101=)
n.442G=
16g.20349084C>GCA394987322UMODc.217G>C (p.Gly73Arg)
c.316G>C (p.Gly106Arg)
c.364G>C (p.Gly122Arg)
c.286G>C (p.Gly96Arg)
c.379G>C (p.Gly127Arg)
c.301G>C (p.Gly101Arg)
n.442G>C
16g.20349084C>TCA394987323UMODc.217G>A (p.Gly73Arg)
c.316G>A (p.Gly106Arg)
c.364G>A (p.Gly122Arg)
c.286G>A (p.Gly96Arg)
c.379G>A (p.Gly127Arg)
c.301G>A (p.Gly101Arg)
n.442G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20349085A=CA2211943522UMODc.216T= (p.Pro72=)
c.315T= (p.Pro105=)
c.363T= (p.Pro121=)
c.285T= (p.Pro95=)
c.378T= (p.Pro126=)
c.300T= (p.Pro100=)
n.441T=
16g.20349085A>CCA494097211UMODc.216T>G (p.Pro72=)
c.315T>G (p.Pro105=)
c.363T>G (p.Pro121=)
c.285T>G (p.Pro95=)
c.378T>G (p.Pro126=)
c.300T>G (p.Pro100=)
n.441T>G
16g.20349085A>GCA7939478UMODc.216T>C (p.Pro72=)
c.315T>C (p.Pro105=)
c.363T>C (p.Pro121=)
c.285T>C (p.Pro95=)
c.378T>C (p.Pro126=)
c.300T>C (p.Pro100=)
n.441T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20349085A>TCA494097209UMODc.216T>A (p.Pro72=)
c.315T>A (p.Pro105=)
c.363T>A (p.Pro121=)
c.285T>A (p.Pro95=)
c.378T>A (p.Pro126=)
c.300T>A (p.Pro100=)
n.441T>A
16g.20349086G>ACA394987328UMODc.215C>T (p.Pro72Leu)
c.314C>T (p.Pro105Leu)
c.362C>T (p.Pro121Leu)
c.284C>T (p.Pro95Leu)
c.377C>T (p.Pro126Leu)
c.299C>T (p.Pro100Leu)
n.440C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20349086G>CCA394987331UMODc.215C>G (p.Pro72Arg)
c.314C>G (p.Pro105Arg)
c.362C>G (p.Pro121Arg)
c.284C>G (p.Pro95Arg)
c.377C>G (p.Pro126Arg)
c.299C>G (p.Pro100Arg)
n.440C>G
16g.20349086G=CA2211943527UMODc.215C= (p.Pro72=)
c.314C= (p.Pro105=)
c.362C= (p.Pro121=)
c.284C= (p.Pro95=)
c.377C= (p.Pro126=)
c.299C= (p.Pro100=)
n.440C=
16g.20349086G>TCA394987333UMODc.215C>A (p.Pro72His)
c.314C>A (p.Pro105His)
c.362C>A (p.Pro121His)
c.284C>A (p.Pro95His)
c.377C>A (p.Pro126His)
c.299C>A (p.Pro100His)
n.440C>A
 gnomAD v4
16g.20349087G>ACA394987340UMODc.214C>T (p.Pro72Ser)
c.313C>T (p.Pro105Ser)
c.361C>T (p.Pro121Ser)
c.283C>T (p.Pro95Ser)
c.376C>T (p.Pro126Ser)
c.298C>T (p.Pro100Ser)
n.439C>T
 COSMIC COSMIC
16g.20349087G>CCA279300247UMODc.214C>G (p.Pro72Ala)
c.313C>G (p.Pro105Ala)
c.361C>G (p.Pro121Ala)
c.283C>G (p.Pro95Ala)
c.376C>G (p.Pro126Ala)
c.298C>G (p.Pro100Ala)
n.439C>G
 dbSNP gnomAD v4
16g.20349087G=CA2211943529UMODc.214C= (p.Pro72=)
c.313C= (p.Pro105=)
c.361C= (p.Pro121=)
c.283C= (p.Pro95=)
c.376C= (p.Pro126=)
c.298C= (p.Pro100=)
n.439C=
16g.20349087G>TCA394987343UMODc.214C>A (p.Pro72Thr)
c.313C>A (p.Pro105Thr)
c.361C>A (p.Pro121Thr)
c.283C>A (p.Pro95Thr)
c.376C>A (p.Pro126Thr)
c.298C>A (p.Pro100Thr)
n.439C>A
 gnomAD v4
16g.20349088A=CA2211943531UMODc.213T= (p.Ile71=)
c.312T= (p.Ile104=)
c.360T= (p.Ile120=)
c.282T= (p.Ile94=)
c.375T= (p.Ile125=)
c.297T= (p.Ile99=)
n.438T=
16g.20349088A>CCA394987350UMODc.213T>G (p.Ile71Met)
c.312T>G (p.Ile104Met)
c.360T>G (p.Ile120Met)
c.282T>G (p.Ile94Met)
c.375T>G (p.Ile125Met)
c.297T>G (p.Ile99Met)
n.438T>G
16g.20349088A>GCA7939479UMODc.213T>C (p.Ile71=)
c.312T>C (p.Ile104=)
c.360T>C (p.Ile120=)
c.282T>C (p.Ile94=)
c.375T>C (p.Ile125=)
c.297T>C (p.Ile99=)
n.438T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20349088A>TCA494097218UMODc.213T>A (p.Ile71=)
c.312T>A (p.Ile104=)
c.360T>A (p.Ile120=)
c.282T>A (p.Ile94=)
c.375T>A (p.Ile125=)
c.297T>A (p.Ile99=)
n.438T>A
16g.20349089A>CCA394987354UMODc.212T>G (p.Ile71Ser)
c.311T>G (p.Ile104Ser)
c.359T>G (p.Ile120Ser)
c.281T>G (p.Ile94Ser)
c.374T>G (p.Ile125Ser)
c.296T>G (p.Ile99Ser)
n.437T>G
16g.20349089A>GCA394987355UMODc.212T>C (p.Ile71Thr)
c.311T>C (p.Ile104Thr)
c.359T>C (p.Ile120Thr)
c.281T>C (p.Ile94Thr)
c.374T>C (p.Ile125Thr)
c.296T>C (p.Ile99Thr)
n.437T>C
16g.20349089A>TCA394987356UMODc.212T>A (p.Ile71Asn)
c.311T>A (p.Ile104Asn)
c.359T>A (p.Ile120Asn)
c.281T>A (p.Ile94Asn)
c.374T>A (p.Ile125Asn)
c.296T>A (p.Ile99Asn)
n.437T>A
16g.20349090T>ACA394987357UMODc.211A>T (p.Ile71Phe)
c.310A>T (p.Ile104Phe)
c.358A>T (p.Ile120Phe)
c.280A>T (p.Ile94Phe)
c.373A>T (p.Ile125Phe)
c.295A>T (p.Ile99Phe)
n.436A>T
16g.20349090T>CCA394987358UMODc.211A>G (p.Ile71Val)
c.310A>G (p.Ile104Val)
c.358A>G (p.Ile120Val)
c.280A>G (p.Ile94Val)
c.373A>G (p.Ile125Val)
c.295A>G (p.Ile99Val)
n.436A>G
16g.20349090T>GCA394987360UMODc.211A>C (p.Ile71Leu)
c.310A>C (p.Ile104Leu)
c.358A>C (p.Ile120Leu)
c.280A>C (p.Ile94Leu)
c.373A>C (p.Ile125Leu)
c.295A>C (p.Ile99Leu)
n.436A>C
16g.20349091G>ACA494097220UMODc.210C>T (p.Ala70=)
c.309C>T (p.Ala103=)
c.357C>T (p.Ala119=)
c.279C>T (p.Ala93=)
c.372C>T (p.Ala124=)
c.294C>T (p.Ala98=)
n.435C>T
16g.20349091G>CCA494097222UMODc.210C>G (p.Ala70=)
c.309C>G (p.Ala103=)
c.357C>G (p.Ala119=)
c.279C>G (p.Ala93=)
c.372C>G (p.Ala124=)
c.294C>G (p.Ala98=)
n.435C>G
16g.20349091G>TCA494097223UMODc.210C>A (p.Ala70=)
c.309C>A (p.Ala103=)
c.357C>A (p.Ala119=)
c.279C>A (p.Ala93=)
c.372C>A (p.Ala124=)
c.294C>A (p.Ala98=)
n.435C>A
16g.20349092G>ACA7939480UMODc.209C>T (p.Ala70Val)
c.308C>T (p.Ala103Val)
c.356C>T (p.Ala119Val)
c.278C>T (p.Ala93Val)
c.371C>T (p.Ala124Val)
c.293C>T (p.Ala98Val)
n.434C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20349092G>CCA394987361UMODc.209C>G (p.Ala70Gly)
c.308C>G (p.Ala103Gly)
c.356C>G (p.Ala119Gly)
c.278C>G (p.Ala93Gly)
c.371C>G (p.Ala124Gly)
c.293C>G (p.Ala98Gly)
n.434C>G
16g.20349092G=CA2211943534UMODc.209C= (p.Ala70=)
c.308C= (p.Ala103=)
c.356C= (p.Ala119=)
c.278C= (p.Ala93=)
c.371C= (p.Ala124=)
c.293C= (p.Ala98=)
n.434C=
16g.20349092G>TCA394987363UMODc.209C>A (p.Ala70Asp)
c.308C>A (p.Ala103Asp)
c.356C>A (p.Ala119Asp)
c.278C>A (p.Ala93Asp)
c.371C>A (p.Ala124Asp)
c.293C>A (p.Ala98Asp)
n.434C>A
16g.20349093C>ACA394987374UMODc.208G>T (p.Ala70Ser)
c.307G>T (p.Ala103Ser)
c.355G>T (p.Ala119Ser)
c.277G>T (p.Ala93Ser)
c.370G>T (p.Ala124Ser)
c.292G>T (p.Ala98Ser)
n.433G>T
 dbSNP gnomAD v4
16g.20349093C=CA2211943537UMODc.208G= (p.Ala70=)
c.307G= (p.Ala103=)
c.355G= (p.Ala119=)
c.277G= (p.Ala93=)
c.370G= (p.Ala124=)
c.292G= (p.Ala98=)
n.433G=
16g.20349093C>GCA394987378UMODc.208G>C (p.Ala70Pro)
c.307G>C (p.Ala103Pro)
c.355G>C (p.Ala119Pro)
c.277G>C (p.Ala93Pro)
c.370G>C (p.Ala124Pro)
c.292G>C (p.Ala98Pro)
n.433G>C
16g.20349093C>TCA7939481UMODc.208G>A (p.Ala70Thr)
c.307G>A (p.Ala103Thr)
c.355G>A (p.Ala119Thr)
c.277G>A (p.Ala93Thr)
c.370G>A (p.Ala124Thr)
c.292G>A (p.Ala98Thr)
n.433G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.20349094G>ACA494097226UMODc.207C>T (p.Cys69=)
c.306C>T (p.Cys102=)
c.354C>T (p.Cys118=)
c.276C>T (p.Cys92=)
c.369C>T (p.Cys123=)
c.291C>T (p.Cys97=)
n.432C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20349094G>CCA394987393UMODc.207C>G (p.Cys69Trp)
c.306C>G (p.Cys102Trp)
c.354C>G (p.Cys118Trp)
c.276C>G (p.Cys92Trp)
c.369C>G (p.Cys123Trp)
c.291C>G (p.Cys97Trp)
n.432C>G
16g.20349094G=CA2211943539UMODc.207C= (p.Cys69=)
c.306C= (p.Cys102=)
c.354C= (p.Cys118=)
c.276C= (p.Cys92=)
c.369C= (p.Cys123=)
c.291C= (p.Cys97=)
n.432C=
16g.20349094G>TCA394987394UMODc.207C>A (p.Cys69Ter)
c.306C>A (p.Cys102Ter)
c.354C>A (p.Cys118Ter)
c.276C>A (p.Cys92Ter)
c.369C>A (p.Cys123Ter)
c.291C>A (p.Cys97Ter)
n.432C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20349095C>ACA394987399UMODc.206G>T (p.Cys69Phe)
c.305G>T (p.Cys102Phe)
c.353G>T (p.Cys118Phe)
c.275G>T (p.Cys92Phe)
c.368G>T (p.Cys123Phe)
c.290G>T (p.Cys97Phe)
n.431G>T
16g.20349095C>GCA394987397UMODc.206G>C (p.Cys69Ser)
c.305G>C (p.Cys102Ser)
c.353G>C (p.Cys118Ser)
c.275G>C (p.Cys92Ser)
c.368G>C (p.Cys123Ser)
c.290G>C (p.Cys97Ser)
n.431G>C
16g.20349095C>TCA394987398UMODc.206G>A (p.Cys69Tyr)
c.305G>A (p.Cys102Tyr)
c.353G>A (p.Cys118Tyr)
c.275G>A (p.Cys92Tyr)
c.368G>A (p.Cys123Tyr)
c.290G>A (p.Cys97Tyr)
n.431G>A
16g.20349096A=CA2211943544UMODc.205T= (p.Cys69=)
c.304T= (p.Cys102=)
c.352T= (p.Cys118=)
c.274T= (p.Cys92=)
c.367T= (p.Cys123=)
c.289T= (p.Cys97=)
n.430T=
16g.20349096A>CCA394987400UMODc.205T>G (p.Cys69Gly)
c.304T>G (p.Cys102Gly)
c.352T>G (p.Cys118Gly)
c.274T>G (p.Cys92Gly)
c.367T>G (p.Cys123Gly)
c.289T>G (p.Cys97Gly)
n.430T>G
16g.20349096A>GCA394987403UMODc.205T>C (p.Cys69Arg)
c.304T>C (p.Cys102Arg)
c.352T>C (p.Cys118Arg)
c.274T>C (p.Cys92Arg)
c.367T>C (p.Cys123Arg)
c.289T>C (p.Cys97Arg)
n.430T>C
16g.20349096A>TCA394987404UMODc.205T>A (p.Cys69Ser)
c.304T>A (p.Cys102Ser)
c.352T>A (p.Cys118Ser)
c.274T>A (p.Cys92Ser)
c.367T>A (p.Cys123Ser)
c.289T>A (p.Cys97Ser)
n.430T>A
 ClinVar dbSNP
16g.20349097C>ACA394987405UMODc.204G>T (p.Glu68Asp)
c.303G>T (p.Glu101Asp)
c.351G>T (p.Glu117Asp)
c.273G>T (p.Glu91Asp)
c.366G>T (p.Glu122Asp)
c.288G>T (p.Glu96Asp)
n.429G>T
 dbSNP
16g.20349097C>GCA394987407UMODc.204G>C (p.Glu68Asp)
c.303G>C (p.Glu101Asp)
c.351G>C (p.Glu117Asp)
c.273G>C (p.Glu91Asp)
c.366G>C (p.Glu122Asp)
c.288G>C (p.Glu96Asp)
n.429G>C
16g.20349097C>TCA494097230UMODc.204G>A (p.Glu68=)
c.303G>A (p.Glu101=)
c.351G>A (p.Glu117=)
c.273G>A (p.Glu91=)
c.366G>A (p.Glu122=)
c.288G>A (p.Glu96=)
n.429G>A
16g.20349098T>ACA394987412UMODc.203A>T (p.Glu68Val)
c.302A>T (p.Glu101Val)
c.350A>T (p.Glu117Val)
c.272A>T (p.Glu91Val)
c.365A>T (p.Glu122Val)
c.287A>T (p.Glu96Val)
n.428A>T
 ClinVar dbSNP
16g.20349098T>CCA394987425UMODc.203A>G (p.Glu68Gly)
c.302A>G (p.Glu101Gly)
c.350A>G (p.Glu117Gly)
c.272A>G (p.Glu91Gly)
c.365A>G (p.Glu122Gly)
c.287A>G (p.Glu96Gly)
n.428A>G
16g.20349098T>GCA394987429UMODc.203A>C (p.Glu68Ala)
c.302A>C (p.Glu101Ala)
c.350A>C (p.Glu117Ala)
c.272A>C (p.Glu91Ala)
c.365A>C (p.Glu122Ala)
c.287A>C (p.Glu96Ala)
n.428A>C
16g.20349099C>ACA394987435UMODc.202G>T (p.Glu68Ter)
c.301G>T (p.Glu101Ter)
c.349G>T (p.Glu117Ter)
c.271G>T (p.Glu91Ter)
c.364G>T (p.Glu122Ter)
c.286G>T (p.Glu96Ter)
n.427G>T
16g.20349099C=CA2211943548UMODc.202G= (p.Glu68=)
c.301G= (p.Glu101=)
c.349G= (p.Glu117=)
c.271G= (p.Glu91=)
c.364G= (p.Glu122=)
c.286G= (p.Glu96=)
n.427G=
16g.20349099C>GCA394987438UMODc.202G>C (p.Glu68Gln)
c.301G>C (p.Glu101Gln)
c.349G>C (p.Glu117Gln)
c.271G>C (p.Glu91Gln)
c.364G>C (p.Glu122Gln)
c.286G>C (p.Glu96Gln)
n.427G>C
16g.20349099C>TCA394987445UMODc.202G>A (p.Glu68Lys)
c.301G>A (p.Glu101Lys)
c.349G>A (p.Glu117Lys)
c.271G>A (p.Glu91Lys)
c.364G>A (p.Glu122Lys)
c.286G>A (p.Glu96Lys)
n.427G>A
 ClinVar dbSNP
16g.20349100A>CCA394987449UMODc.201T>G (p.Asp67Glu)
c.300T>G (p.Asp100Glu)
c.348T>G (p.Asp116Glu)
c.270T>G (p.Asp90Glu)
c.363T>G (p.Asp121Glu)
c.285T>G (p.Asp95Glu)
n.426T>G
 gnomAD v4
16g.20349100A>GCA494097233UMODc.201T>C (p.Asp67=)
c.300T>C (p.Asp100=)
c.348T>C (p.Asp116=)
c.270T>C (p.Asp90=)
c.363T>C (p.Asp121=)
c.285T>C (p.Asp95=)
n.426T>C
16g.20349100A>TCA394987453UMODc.201T>A (p.Asp67Glu)
c.300T>A (p.Asp100Glu)
c.348T>A (p.Asp116Glu)
c.270T>A (p.Asp90Glu)
c.363T>A (p.Asp121Glu)
c.285T>A (p.Asp95Glu)
n.426T>A
16g.20349101T>ACA394987457UMODc.200A>T (p.Asp67Val)
c.299A>T (p.Asp100Val)
c.347A>T (p.Asp116Val)
c.269A>T (p.Asp90Val)
c.362A>T (p.Asp121Val)
c.284A>T (p.Asp95Val)
n.425A>T
16g.20349101T>CCA394987467UMODc.200A>G (p.Asp67Gly)
c.299A>G (p.Asp100Gly)
c.347A>G (p.Asp116Gly)
c.269A>G (p.Asp90Gly)
c.362A>G (p.Asp121Gly)
c.284A>G (p.Asp95Gly)
n.425A>G
 ClinVar
16g.20349101T>GCA394987463UMODc.200A>C (p.Asp67Ala)
c.299A>C (p.Asp100Ala)
c.347A>C (p.Asp116Ala)
c.269A>C (p.Asp90Ala)
c.362A>C (p.Asp121Ala)
c.284A>C (p.Asp95Ala)
n.425A>C
16g.20349102C>ACA394987471UMODc.199G>T (p.Asp67Tyr)
c.298G>T (p.Asp100Tyr)
c.346G>T (p.Asp116Tyr)
c.268G>T (p.Asp90Tyr)
c.361G>T (p.Asp121Tyr)
c.283G>T (p.Asp95Tyr)
n.424G>T
16g.20349102C=CA2211943553UMODc.199G= (p.Asp67=)
c.298G= (p.Asp100=)
c.346G= (p.Asp116=)
c.268G= (p.Asp90=)
c.361G= (p.Asp121=)
c.283G= (p.Asp95=)
n.424G=
16g.20349102C>GCA394987476UMODc.199G>C (p.Asp67His)
c.298G>C (p.Asp100His)
c.346G>C (p.Asp116His)
c.268G>C (p.Asp90His)
c.361G>C (p.Asp121His)
c.283G>C (p.Asp95His)
n.424G>C
16g.20349102C>TCA394987484UMODc.199G>A (p.Asp67Asn)
c.298G>A (p.Asp100Asn)
c.346G>A (p.Asp116Asn)
c.268G>A (p.Asp90Asn)
c.361G>A (p.Asp121Asn)
c.283G>A (p.Asp95Asn)
n.424G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20349103C>ACA494097241UMODc.198G>T (p.Leu66=)
c.297G>T (p.Leu99=)
c.345G>T (p.Leu115=)
c.267G>T (p.Leu89=)
c.360G>T (p.Leu120=)
c.282G>T (p.Leu94=)
n.423G>T
16g.20349103C>GCA494097237UMODc.198G>C (p.Leu66=)
c.297G>C (p.Leu99=)
c.345G>C (p.Leu115=)
c.267G>C (p.Leu89=)
c.360G>C (p.Leu120=)
c.282G>C (p.Leu94=)
n.423G>C
16g.20349103C>TCA494097238UMODc.198G>A (p.Leu66=)
c.297G>A (p.Leu99=)
c.345G>A (p.Leu115=)
c.267G>A (p.Leu89=)
c.360G>A (p.Leu120=)
c.282G>A (p.Leu94=)
n.423G>A
16g.20349104A=CA2211943558UMODc.197T= (p.Leu66=)
c.296T= (p.Leu99=)
c.344T= (p.Leu115=)
c.266T= (p.Leu89=)
c.359T= (p.Leu120=)
c.281T= (p.Leu94=)
n.422T=
16g.20349104A>CCA394987487UMODc.197T>G (p.Leu66Arg)
c.296T>G (p.Leu99Arg)
c.344T>G (p.Leu115Arg)
c.266T>G (p.Leu89Arg)
c.359T>G (p.Leu120Arg)
c.281T>G (p.Leu94Arg)
n.422T>G
16g.20349104A>GCA394987488UMODc.197T>C (p.Leu66Pro)
c.296T>C (p.Leu99Pro)
c.344T>C (p.Leu115Pro)
c.266T>C (p.Leu89Pro)
c.359T>C (p.Leu120Pro)
c.281T>C (p.Leu94Pro)
n.422T>C
 ClinVar dbSNP
16g.20349104A>TCA394987490UMODc.197T>A (p.Leu66Gln)
c.296T>A (p.Leu99Gln)
c.344T>A (p.Leu115Gln)
c.266T>A (p.Leu89Gln)
c.359T>A (p.Leu120Gln)
c.281T>A (p.Leu94Gln)
n.422T>A
16g.20349104_20349105delCA2560260875UMODc.196_197del (p.Leu66GlyfsTer2)
c.295_296del (p.Leu99GlyfsTer2)
c.343_344del (p.Leu115GlyfsTer2)
c.265_266del (p.Leu89GlyfsTer2)
c.358_359del (p.Leu120GlyfsTer2)
c.280_281del (p.Leu94GlyfsTer2)
n.421_422del
16g.20349105G>ACA494097243UMODc.196C>T (p.Leu66=)
c.295C>T (p.Leu99=)
c.343C>T (p.Leu115=)
c.265C>T (p.Leu89=)
c.358C>T (p.Leu120=)
c.280C>T (p.Leu94=)
n.421C>T
16g.20349105G>CCA394987493UMODc.196C>G (p.Leu66Val)
c.295C>G (p.Leu99Val)
c.343C>G (p.Leu115Val)
c.265C>G (p.Leu89Val)
c.358C>G (p.Leu120Val)
c.280C>G (p.Leu94Val)
n.421C>G
16g.20349105G>TCA394987495UMODc.196C>A (p.Leu66Met)
c.295C>A (p.Leu99Met)
c.343C>A (p.Leu115Met)
c.265C>A (p.Leu89Met)
c.358C>A (p.Leu120Met)
c.280C>A (p.Leu94Met)
n.421C>A
16g.20349106G>ACA494097244UMODc.195C>T (p.Asp65=)
c.294C>T (p.Asp98=)
c.342C>T (p.Asp114=)
c.264C>T (p.Asp88=)
c.357C>T (p.Asp119=)
c.279C>T (p.Asp93=)
n.420C>T
16g.20349106G>CCA394987501UMODc.195C>G (p.Asp65Glu)
c.294C>G (p.Asp98Glu)
c.342C>G (p.Asp114Glu)
c.264C>G (p.Asp88Glu)
c.357C>G (p.Asp119Glu)
c.279C>G (p.Asp93Glu)
n.420C>G
16g.20349106G>TCA394987504UMODc.195C>A (p.Asp65Glu)
c.294C>A (p.Asp98Glu)
c.342C>A (p.Asp114Glu)
c.264C>A (p.Asp88Glu)
c.357C>A (p.Asp119Glu)
c.279C>A (p.Asp93Glu)
n.420C>A
16g.20349107T>ACA394987510UMODc.194A>T (p.Asp65Val)
c.293A>T (p.Asp98Val)
c.341A>T (p.Asp114Val)
c.263A>T (p.Asp88Val)
c.356A>T (p.Asp119Val)
c.278A>T (p.Asp93Val)
n.419A>T
16g.20349107T>CCA394987512UMODc.194A>G (p.Asp65Gly)
c.293A>G (p.Asp98Gly)
c.341A>G (p.Asp114Gly)
c.263A>G (p.Asp88Gly)
c.356A>G (p.Asp119Gly)
c.278A>G (p.Asp93Gly)
n.419A>G
16g.20349107T>GCA394987516UMODc.194A>C (p.Asp65Ala)
c.293A>C (p.Asp98Ala)
c.341A>C (p.Asp114Ala)
c.263A>C (p.Asp88Ala)
c.356A>C (p.Asp119Ala)
c.278A>C (p.Asp93Ala)
n.419A>C
16g.20349108C>ACA394987526UMODc.193G>T (p.Asp65Tyr)
c.292G>T (p.Asp98Tyr)
c.340G>T (p.Asp114Tyr)
c.262G>T (p.Asp88Tyr)
c.355G>T (p.Asp119Tyr)
c.277G>T (p.Asp93Tyr)
n.418G>T
16g.20349108C>GCA394987519UMODc.193G>C (p.Asp65His)
c.292G>C (p.Asp98His)
c.340G>C (p.Asp114His)
c.262G>C (p.Asp88His)
c.355G>C (p.Asp119His)
c.277G>C (p.Asp93His)
n.418G>C
16g.20349108C>TCA394987523UMODc.193G>A (p.Asp65Asn)
c.292G>A (p.Asp98Asn)
c.340G>A (p.Asp114Asn)
c.262G>A (p.Asp88Asn)
c.355G>A (p.Asp119Asn)
c.277G>A (p.Asp93Asn)
n.418G>A
16g.20349109C>ACA494097245UMODc.192G>T (p.Val64=)
c.291G>T (p.Val97=)
c.339G>T (p.Val113=)
c.261G>T (p.Val87=)
c.354G>T (p.Val118=)
c.276G>T (p.Val92=)
n.417G>T
16g.20349109C>GCA494097246UMODc.192G>C (p.Val64=)
c.291G>C (p.Val97=)
c.339G>C (p.Val113=)
c.261G>C (p.Val87=)
c.354G>C (p.Val118=)
c.276G>C (p.Val92=)
n.417G>C
16g.20349109C>TCA494097247UMODc.192G>A (p.Val64=)
c.291G>A (p.Val97=)
c.339G>A (p.Val113=)
c.261G>A (p.Val87=)
c.354G>A (p.Val118=)
c.276G>A (p.Val92=)
n.417G>A
16g.20349110A>CCA394987530UMODc.191T>G (p.Val64Gly)
c.290T>G (p.Val97Gly)
c.338T>G (p.Val113Gly)
c.260T>G (p.Val87Gly)
c.353T>G (p.Val118Gly)
c.275T>G (p.Val92Gly)
n.416T>G
16g.20349110A>GCA394987535UMODc.191T>C (p.Val64Ala)
c.290T>C (p.Val97Ala)
c.338T>C (p.Val113Ala)
c.260T>C (p.Val87Ala)
c.353T>C (p.Val118Ala)
c.275T>C (p.Val92Ala)
n.416T>C
16g.20349110A>TCA394987537UMODc.191T>A (p.Val64Glu)
c.290T>A (p.Val97Glu)
c.338T>A (p.Val113Glu)
c.260T>A (p.Val87Glu)
c.353T>A (p.Val118Glu)
c.275T>A (p.Val92Glu)
n.416T>A
16g.20349111C>ACA394987540UMODc.190G>T (p.Val64Leu)
c.289G>T (p.Val97Leu)
c.337G>T (p.Val113Leu)
c.259G>T (p.Val87Leu)
c.352G>T (p.Val118Leu)
c.274G>T (p.Val92Leu)
n.415G>T
16g.20349111C=CA2211943561UMODc.190G= (p.Val64=)
c.289G= (p.Val97=)
c.337G= (p.Val113=)
c.259G= (p.Val87=)
c.352G= (p.Val118=)
c.274G= (p.Val92=)
n.415G=
16g.20349111C>GCA394987542UMODc.190G>C (p.Val64Leu)
c.289G>C (p.Val97Leu)
c.337G>C (p.Val113Leu)
c.259G>C (p.Val87Leu)
c.352G>C (p.Val118Leu)
c.274G>C (p.Val92Leu)
n.415G>C
 dbSNP gnomAD v2 gnomAD v4
16g.20349111C>TCA394987544UMODc.190G>A (p.Val64Met)
c.289G>A (p.Val97Met)
c.337G>A (p.Val113Met)
c.259G>A (p.Val87Met)
c.352G>A (p.Val118Met)
c.274G>A (p.Val92Met)
n.415G>A
 gnomAD v4 COSMIC COSMIC
16g.20349112G>ACA494097252UMODc.189C>T (p.Cys63=)
c.288C>T (p.Cys96=)
c.336C>T (p.Cys112=)
c.258C>T (p.Cys86=)
c.351C>T (p.Cys117=)
c.273C>T (p.Cys91=)
n.414C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20349112G>CCA394987548UMODc.189C>G (p.Cys63Trp)
c.288C>G (p.Cys96Trp)
c.336C>G (p.Cys112Trp)
c.258C>G (p.Cys86Trp)
c.351C>G (p.Cys117Trp)
c.273C>G (p.Cys91Trp)
n.414C>G
 ClinVar dbSNP
16g.20349112G=CA2211943567UMODc.189C= (p.Cys63=)
c.288C= (p.Cys96=)
c.336C= (p.Cys112=)
c.258C= (p.Cys86=)
c.351C= (p.Cys117=)
c.273C= (p.Cys91=)
n.414C=
16g.20349112G>TCA394987550UMODc.189C>A (p.Cys63Ter)
c.288C>A (p.Cys96Ter)
c.336C>A (p.Cys112Ter)
c.258C>A (p.Cys86Ter)
c.351C>A (p.Cys117Ter)
c.273C>A (p.Cys91Ter)
n.414C>A
16g.20349113C>ACA394987561UMODc.188G>T (p.Cys63Phe)
c.287G>T (p.Cys96Phe)
c.335G>T (p.Cys112Phe)
c.257G>T (p.Cys86Phe)
c.350G>T (p.Cys117Phe)
c.272G>T (p.Cys91Phe)
n.413G>T
 ClinVar
16g.20349113C>GCA394987575UMODc.188G>C (p.Cys63Ser)
c.287G>C (p.Cys96Ser)
c.335G>C (p.Cys112Ser)
c.257G>C (p.Cys86Ser)
c.350G>C (p.Cys117Ser)
c.272G>C (p.Cys91Ser)
n.413G>C
16g.20349113C>TCA394987584UMODc.188G>A (p.Cys63Tyr)
c.287G>A (p.Cys96Tyr)
c.335G>A (p.Cys112Tyr)
c.257G>A (p.Cys86Tyr)
c.350G>A (p.Cys117Tyr)
c.272G>A (p.Cys91Tyr)
n.413G>A
16g.20349114A>CCA394987587UMODc.187T>G (p.Cys63Gly)
c.286T>G (p.Cys96Gly)
c.334T>G (p.Cys112Gly)
c.256T>G (p.Cys86Gly)
c.349T>G (p.Cys117Gly)
c.271T>G (p.Cys91Gly)
n.412T>G
16g.20349114A>GCA394987595UMODc.187T>C (p.Cys63Arg)
c.286T>C (p.Cys96Arg)
c.334T>C (p.Cys112Arg)
c.256T>C (p.Cys86Arg)
c.349T>C (p.Cys117Arg)
c.271T>C (p.Cys91Arg)
n.412T>C
16g.20349114A>TCA394987590UMODc.187T>A (p.Cys63Ser)
c.286T>A (p.Cys96Ser)
c.334T>A (p.Cys112Ser)
c.256T>A (p.Cys86Ser)
c.349T>A (p.Cys117Ser)
c.271T>A (p.Cys91Ser)
n.412T>A
16g.20349115G>ACA494097257UMODc.186C>T (p.Thr62=)
c.285C>T (p.Thr95=)
c.333C>T (p.Thr111=)
c.255C>T (p.Thr85=)
c.348C>T (p.Thr116=)
c.270C>T (p.Thr90=)
n.411C>T
16g.20349115G>CCA494097259UMODc.186C>G (p.Thr62=)
c.285C>G (p.Thr95=)
c.333C>G (p.Thr111=)
c.255C>G (p.Thr85=)
c.348C>G (p.Thr116=)
c.270C>G (p.Thr90=)
n.411C>G
16g.20349115G>TCA494097261UMODc.186C>A (p.Thr62=)
c.285C>A (p.Thr95=)
c.333C>A (p.Thr111=)
c.255C>A (p.Thr85=)
c.348C>A (p.Thr116=)
c.270C>A (p.Thr90=)
n.411C>A
16g.20349116delCA2575933285UMODc.186del (p.Cys63AlafsTer22)
c.285del (p.Cys96AlafsTer22)
c.333del (p.Cys112AlafsTer22)
c.255del (p.Cys86AlafsTer22)
c.348del (p.Cys117AlafsTer22)
c.270del (p.Cys91AlafsTer22)
n.411del
16g.20349116G>ACA394987598UMODc.185C>T (p.Thr62Ile)
c.284C>T (p.Thr95Ile)
c.332C>T (p.Thr111Ile)
c.254C>T (p.Thr85Ile)
c.347C>T (p.Thr116Ile)
c.269C>T (p.Thr90Ile)
n.410C>T
 dbSNP COSMIC COSMIC
16g.20349116G>CCA394987604UMODc.185C>G (p.Thr62Ser)
c.284C>G (p.Thr95Ser)
c.332C>G (p.Thr111Ser)
c.254C>G (p.Thr85Ser)
c.347C>G (p.Thr116Ser)
c.269C>G (p.Thr90Ser)
n.410C>G
16g.20349116G=CA2211943572UMODc.185C= (p.Thr62=)
c.284C= (p.Thr95=)
c.332C= (p.Thr111=)
c.254C= (p.Thr85=)
c.347C= (p.Thr116=)
c.269C= (p.Thr90=)
n.410C=
16g.20349116G>TCA394987599UMODc.185C>A (p.Thr62Asn)
c.284C>A (p.Thr95Asn)
c.332C>A (p.Thr111Asn)
c.254C>A (p.Thr85Asn)
c.347C>A (p.Thr116Asn)
c.269C>A (p.Thr90Asn)
n.410C>A
16g.20349117T>ACA394987612UMODc.184A>T (p.Thr62Ser)
c.283A>T (p.Thr95Ser)
c.331A>T (p.Thr111Ser)
c.253A>T (p.Thr85Ser)
c.346A>T (p.Thr116Ser)
c.268A>T (p.Thr90Ser)
n.409A>T
16g.20349117T>CCA394987616UMODc.184A>G (p.Thr62Ala)
c.283A>G (p.Thr95Ala)
c.331A>G (p.Thr111Ala)
c.253A>G (p.Thr85Ala)
c.346A>G (p.Thr116Ala)
c.268A>G (p.Thr90Ala)
n.409A>G
 dbSNP gnomAD v2 gnomAD v4
16g.20349117T>GCA7939482UMODc.184A>C (p.Thr62Pro)
c.283A>C (p.Thr95Pro)
c.331A>C (p.Thr111Pro)
c.253A>C (p.Thr85Pro)
c.346A>C (p.Thr116Pro)
c.268A>C (p.Thr90Pro)
n.409A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20349117T=CA2211943576UMODc.184A= (p.Thr62=)
c.283A= (p.Thr95=)
c.331A= (p.Thr111=)
c.253A= (p.Thr85=)
c.346A= (p.Thr116=)
c.268A= (p.Thr90=)
n.409A=
16g.20349118C>ACA494097263UMODc.183G>T (p.Leu61=)
c.282G>T (p.Leu94=)
c.330G>T (p.Leu110=)
c.252G>T (p.Leu84=)
c.345G>T (p.Leu115=)
c.267G>T (p.Leu89=)
n.408G>T
16g.20349118C>GCA494097265UMODc.183G>C (p.Leu61=)
c.282G>C (p.Leu94=)
c.330G>C (p.Leu110=)
c.252G>C (p.Leu84=)
c.345G>C (p.Leu115=)
c.267G>C (p.Leu89=)
n.408G>C
16g.20349118C>TCA494097266UMODc.183G>A (p.Leu61=)
c.282G>A (p.Leu94=)
c.330G>A (p.Leu110=)
c.252G>A (p.Leu84=)
c.345G>A (p.Leu115=)
c.267G>A (p.Leu89=)
n.408G>A
16g.20349119A>CCA394987619UMODc.182T>G (p.Leu61Arg)
c.281T>G (p.Leu94Arg)
c.329T>G (p.Leu110Arg)
c.251T>G (p.Leu84Arg)
c.344T>G (p.Leu115Arg)
c.266T>G (p.Leu89Arg)
n.407T>G
16g.20349119A>GCA394987625UMODc.182T>C (p.Leu61Pro)
c.281T>C (p.Leu94Pro)
c.329T>C (p.Leu110Pro)
c.251T>C (p.Leu84Pro)
c.344T>C (p.Leu115Pro)
c.266T>C (p.Leu89Pro)
n.407T>C
16g.20349119A>TCA394987621UMODc.182T>A (p.Leu61Gln)
c.281T>A (p.Leu94Gln)
c.329T>A (p.Leu110Gln)
c.251T>A (p.Leu84Gln)
c.344T>A (p.Leu115Gln)
c.266T>A (p.Leu89Gln)
n.407T>A
16g.20349120G>ACA494097269UMODc.181C>T (p.Leu61=)
c.280C>T (p.Leu94=)
c.328C>T (p.Leu110=)
c.250C>T (p.Leu84=)
c.343C>T (p.Leu115=)
c.265C>T (p.Leu89=)
n.406C>T
 gnomAD v4
16g.20349120G>CCA394987643UMODc.181C>G (p.Leu61Val)
c.280C>G (p.Leu94Val)
c.328C>G (p.Leu110Val)
c.250C>G (p.Leu84Val)
c.343C>G (p.Leu115Val)
c.265C>G (p.Leu89Val)
n.406C>G
 gnomAD v4
16g.20349120G>TCA394987645UMODc.181C>A (p.Leu61Met)
c.280C>A (p.Leu94Met)
c.328C>A (p.Leu110Met)
c.250C>A (p.Leu84Met)
c.343C>A (p.Leu115Met)
c.265C>A (p.Leu89Met)
n.406C>A
 COSMIC COSMIC
16g.20349121G>ACA494097270UMODc.180C>T (p.Gly60=)
c.279C>T (p.Gly93=)
c.327C>T (p.Gly109=)
c.249C>T (p.Gly83=)
c.342C>T (p.Gly114=)
c.264C>T (p.Gly88=)
n.405C>T
 gnomAD v4
16g.20349121G>CCA494097271UMODc.180C>G (p.Gly60=)
c.279C>G (p.Gly93=)
c.327C>G (p.Gly109=)
c.249C>G (p.Gly83=)
c.342C>G (p.Gly114=)
c.264C>G (p.Gly88=)
n.405C>G
16g.20349121G=CA2211943581UMODc.180C= (p.Gly60=)
c.279C= (p.Gly93=)
c.327C= (p.Gly109=)
c.249C= (p.Gly83=)
c.342C= (p.Gly114=)
c.264C= (p.Gly88=)
n.405C=
16g.20349121G>TCA494097272UMODc.180C>A (p.Gly60=)
c.279C>A (p.Gly93=)
c.327C>A (p.Gly109=)
c.249C>A (p.Gly83=)
c.342C>A (p.Gly114=)
c.264C>A (p.Gly88=)
n.405C>A
 dbSNP gnomAD v3 gnomAD v4
16g.20349122C>ACA394987647UMODc.179G>T (p.Gly60Val)
c.278G>T (p.Gly93Val)
c.326G>T (p.Gly109Val)
c.248G>T (p.Gly83Val)
c.341G>T (p.Gly114Val)
c.263G>T (p.Gly88Val)
n.404G>T
16g.20349122C>GCA394987660UMODc.179G>C (p.Gly60Ala)
c.278G>C (p.Gly93Ala)
c.326G>C (p.Gly109Ala)
c.248G>C (p.Gly83Ala)
c.341G>C (p.Gly114Ala)
c.263G>C (p.Gly88Ala)
n.404G>C
16g.20349122C>TCA394987663UMODc.179G>A (p.Gly60Asp)
c.278G>A (p.Gly93Asp)
c.326G>A (p.Gly109Asp)
c.248G>A (p.Gly83Asp)
c.341G>A (p.Gly114Asp)
c.263G>A (p.Gly88Asp)
n.404G>A
 gnomAD v4
16g.20349123C>ACA394987688UMODc.178G>T (p.Gly60Cys)
c.277G>T (p.Gly93Cys)
c.325G>T (p.Gly109Cys)
c.247G>T (p.Gly83Cys)
c.340G>T (p.Gly114Cys)
c.262G>T (p.Gly88Cys)
n.403G>T
16g.20349123C>GCA394987702UMODc.178G>C (p.Gly60Arg)
c.277G>C (p.Gly93Arg)
c.325G>C (p.Gly109Arg)
c.247G>C (p.Gly83Arg)
c.340G>C (p.Gly114Arg)
c.262G>C (p.Gly88Arg)
n.403G>C
16g.20349123C>TCA394987708UMODc.178G>A (p.Gly60Ser)
c.277G>A (p.Gly93Ser)
c.325G>A (p.Gly109Ser)
c.247G>A (p.Gly83Ser)
c.340G>A (p.Gly114Ser)
c.262G>A (p.Gly88Ser)
n.403G>A
16g.20349124A=CA2211943582UMODc.177T= (p.Asp59=)
c.276T= (p.Asp92=)
c.324T= (p.Asp108=)
c.246T= (p.Asp82=)
c.339T= (p.Asp113=)
c.261T= (p.Asp87=)
n.402T=
16g.20349124A>CCA394987711UMODc.177T>G (p.Asp59Glu)
c.276T>G (p.Asp92Glu)
c.324T>G (p.Asp108Glu)
c.246T>G (p.Asp82Glu)
c.339T>G (p.Asp113Glu)
c.261T>G (p.Asp87Glu)
n.402T>G
16g.20349124A>GCA494097277UMODc.177T>C (p.Asp59=)
c.276T>C (p.Asp92=)
c.324T>C (p.Asp108=)
c.246T>C (p.Asp82=)
c.339T>C (p.Asp113=)
c.261T>C (p.Asp87=)
n.402T>C
 dbSNP gnomAD v3 gnomAD v4
16g.20349124A>TCA394987713UMODc.177T>A (p.Asp59Glu)
c.276T>A (p.Asp92Glu)
c.324T>A (p.Asp108Glu)
c.246T>A (p.Asp82Glu)
c.339T>A (p.Asp113Glu)
c.261T>A (p.Asp87Glu)
n.402T>A
16g.20349125T>ACA394987720UMODc.176A>T (p.Asp59Val)
c.275A>T (p.Asp92Val)
c.323A>T (p.Asp108Val)
c.245A>T (p.Asp82Val)
c.338A>T (p.Asp113Val)
c.260A>T (p.Asp87Val)
n.401A>T
16g.20349125T>CCA394987716UMODc.176A>G (p.Asp59Gly)
c.275A>G (p.Asp92Gly)
c.323A>G (p.Asp108Gly)
c.245A>G (p.Asp82Gly)
c.338A>G (p.Asp113Gly)
c.260A>G (p.Asp87Gly)
n.401A>G
 ClinVar
16g.20349125T>GCA394987719UMODc.176A>C (p.Asp59Ala)
c.275A>C (p.Asp92Ala)
c.323A>C (p.Asp108Ala)
c.245A>C (p.Asp82Ala)
c.338A>C (p.Asp113Ala)
c.260A>C (p.Asp87Ala)
n.401A>C
16g.20349126C>ACA394987722UMODc.175G>T (p.Asp59Tyr)
c.274G>T (p.Asp92Tyr)
c.322G>T (p.Asp108Tyr)
c.244G>T (p.Asp82Tyr)
c.337G>T (p.Asp113Tyr)
c.259G>T (p.Asp87Tyr)
n.400G>T
 ClinVar
16g.20349126C>GCA394987723UMODc.175G>C (p.Asp59His)
c.274G>C (p.Asp92His)
c.322G>C (p.Asp108His)
c.244G>C (p.Asp82His)
c.337G>C (p.Asp113His)
c.259G>C (p.Asp87His)
n.400G>C
 gnomAD v4
16g.20349126C>TCA394987725UMODc.175G>A (p.Asp59Asn)
c.274G>A (p.Asp92Asn)
c.322G>A (p.Asp108Asn)
c.244G>A (p.Asp82Asn)
c.337G>A (p.Asp113Asn)
c.259G>A (p.Asp87Asn)
n.400G>A
 gnomAD v4 COSMIC COSMIC
16g.20349127G>ACA494097283UMODc.174C>T (p.Gly58=)
c.273C>T (p.Gly91=)
c.321C>T (p.Gly107=)
c.243C>T (p.Gly81=)
c.336C>T (p.Gly112=)
c.258C>T (p.Gly86=)
n.399C>T
 COSMIC COSMIC
16g.20349127G>CCA494097282UMODc.174C>G (p.Gly58=)
c.273C>G (p.Gly91=)
c.321C>G (p.Gly107=)
c.243C>G (p.Gly81=)
c.336C>G (p.Gly112=)
c.258C>G (p.Gly86=)
n.399C>G
16g.20349127G=CA2211943585UMODc.174C= (p.Gly58=)
c.273C= (p.Gly91=)
c.321C= (p.Gly107=)
c.243C= (p.Gly81=)
c.336C= (p.Gly112=)
c.258C= (p.Gly86=)
n.399C=
16g.20349127G>TCA494097279UMODc.174C>A (p.Gly58=)
c.273C>A (p.Gly91=)
c.321C>A (p.Gly107=)
c.243C>A (p.Gly81=)
c.336C>A (p.Gly112=)
c.258C>A (p.Gly86=)
n.399C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20349128C>ACA394987729UMODc.173G>T (p.Gly58Val)
c.272G>T (p.Gly91Val)
c.320G>T (p.Gly107Val)
c.242G>T (p.Gly81Val)
c.335G>T (p.Gly112Val)
c.257G>T (p.Gly86Val)
n.398G>T
 gnomAD v4
16g.20349128C>GCA394987731UMODc.173G>C (p.Gly58Ala)
c.272G>C (p.Gly91Ala)
c.320G>C (p.Gly107Ala)
c.242G>C (p.Gly81Ala)
c.335G>C (p.Gly112Ala)
c.257G>C (p.Gly86Ala)
n.398G>C
16g.20349128C>TCA394987732UMODc.173G>A (p.Gly58Asp)
c.272G>A (p.Gly91Asp)
c.320G>A (p.Gly107Asp)
c.242G>A (p.Gly81Asp)
c.335G>A (p.Gly112Asp)
c.257G>A (p.Gly86Asp)
n.398G>A
16g.20349129C>ACA394987735UMODc.172G>T (p.Gly58Cys)
c.271G>T (p.Gly91Cys)
c.319G>T (p.Gly107Cys)
c.241G>T (p.Gly81Cys)
c.334G>T (p.Gly112Cys)
c.256G>T (p.Gly86Cys)
n.397G>T
 ClinVar
16g.20349129C=CA2211943590UMODc.172G= (p.Gly58=)
c.271G= (p.Gly91=)
c.319G= (p.Gly107=)
c.241G= (p.Gly81=)
c.334G= (p.Gly112=)
c.256G= (p.Gly86=)
n.397G=
16g.20349129C>GCA394987738UMODc.172G>C (p.Gly58Arg)
c.271G>C (p.Gly91Arg)
c.319G>C (p.Gly107Arg)
c.241G>C (p.Gly81Arg)
c.334G>C (p.Gly112Arg)
c.256G>C (p.Gly86Arg)
n.397G>C
16g.20349129C>TCA7939483UMODc.172G>A (p.Gly58Ser)
c.271G>A (p.Gly91Ser)
c.319G>A (p.Gly107Ser)
c.241G>A (p.Gly81Ser)
c.334G>A (p.Gly112Ser)
c.256G>A (p.Gly86Ser)
n.397G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20349130G>ACA494097294UMODc.171C>T (p.Thr57=)
c.270C>T (p.Thr90=)
c.318C>T (p.Thr106=)
c.240C>T (p.Thr80=)
c.333C>T (p.Thr111=)
c.255C>T (p.Thr85=)
n.396C>T
 dbSNP gnomAD v3 gnomAD v4
16g.20349130G>CCA494097292UMODc.171C>G (p.Thr57=)
c.270C>G (p.Thr90=)
c.318C>G (p.Thr106=)
c.240C>G (p.Thr80=)
c.333C>G (p.Thr111=)
c.255C>G (p.Thr85=)
n.396C>G
 gnomAD v4
16g.20349130G=CA2211943594UMODc.171C= (p.Thr57=)
c.270C= (p.Thr90=)
c.318C= (p.Thr106=)
c.240C= (p.Thr80=)
c.333C= (p.Thr111=)
c.255C= (p.Thr85=)
n.396C=
16g.20349130G>TCA494097289UMODc.171C>A (p.Thr57=)
c.270C>A (p.Thr90=)
c.318C>A (p.Thr106=)
c.240C>A (p.Thr80=)
c.333C>A (p.Thr111=)
c.255C>A (p.Thr85=)
n.396C>A
 dbSNP gnomAD v3 gnomAD v4
16g.20349131G>ACA394987744UMODc.170C>T (p.Thr57Ile)
c.269C>T (p.Thr90Ile)
c.317C>T (p.Thr106Ile)
c.239C>T (p.Thr80Ile)
c.332C>T (p.Thr111Ile)
c.254C>T (p.Thr85Ile)
n.395C>T
16g.20349131G>CCA394987747UMODc.170C>G (p.Thr57Ser)
c.269C>G (p.Thr90Ser)
c.317C>G (p.Thr106Ser)
c.239C>G (p.Thr80Ser)
c.332C>G (p.Thr111Ser)
c.254C>G (p.Thr85Ser)
n.395C>G
16g.20349131G>TCA394987742UMODc.170C>A (p.Thr57Asn)
c.269C>A (p.Thr90Asn)
c.317C>A (p.Thr106Asn)
c.239C>A (p.Thr80Asn)
c.332C>A (p.Thr111Asn)
c.254C>A (p.Thr85Asn)
n.395C>A
16g.20349132T>ACA394987750UMODc.169A>T (p.Thr57Ser)
c.268A>T (p.Thr90Ser)
c.316A>T (p.Thr106Ser)
c.238A>T (p.Thr80Ser)
c.331A>T (p.Thr111Ser)
c.253A>T (p.Thr85Ser)
n.394A>T
16g.20349132T>CCA394987752UMODc.169A>G (p.Thr57Ala)
c.268A>G (p.Thr90Ala)
c.316A>G (p.Thr106Ala)
c.238A>G (p.Thr80Ala)
c.331A>G (p.Thr111Ala)
c.253A>G (p.Thr85Ala)
n.394A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.20349132T>GCA394987755UMODc.169A>C (p.Thr57Pro)
c.268A>C (p.Thr90Pro)
c.316A>C (p.Thr106Pro)
c.238A>C (p.Thr80Pro)
c.331A>C (p.Thr111Pro)
c.253A>C (p.Thr85Pro)
n.394A>C
16g.20349132T=CA2211943596UMODc.169A= (p.Thr57=)
c.268A= (p.Thr90=)
c.316A= (p.Thr106=)
c.238A= (p.Thr80=)
c.331A= (p.Thr111=)
c.253A= (p.Thr85=)
n.394A=
16g.20349133G>ACA494097300UMODc.168C>T (p.Phe56=)
c.267C>T (p.Phe89=)
c.315C>T (p.Phe105=)
c.237C>T (p.Phe79=)
c.330C>T (p.Phe110=)
c.252C>T (p.Phe84=)
n.393C>T
16g.20349133G>CCA394987757UMODc.168C>G (p.Phe56Leu)
c.267C>G (p.Phe89Leu)
c.315C>G (p.Phe105Leu)
c.237C>G (p.Phe79Leu)
c.330C>G (p.Phe110Leu)
c.252C>G (p.Phe84Leu)
n.393C>G
16g.20349133G>TCA394987759UMODc.168C>A (p.Phe56Leu)
c.267C>A (p.Phe89Leu)
c.315C>A (p.Phe105Leu)
c.237C>A (p.Phe79Leu)
c.330C>A (p.Phe110Leu)
c.252C>A (p.Phe84Leu)
n.393C>A
16g.20349134A>CCA394987761UMODc.167T>G (p.Phe56Cys)
c.266T>G (p.Phe89Cys)
c.314T>G (p.Phe105Cys)
c.236T>G (p.Phe79Cys)
c.329T>G (p.Phe110Cys)
c.251T>G (p.Phe84Cys)
n.392T>G
16g.20349134A>GCA394987763UMODc.167T>C (p.Phe56Ser)
c.266T>C (p.Phe89Ser)
c.314T>C (p.Phe105Ser)
c.236T>C (p.Phe79Ser)
c.329T>C (p.Phe110Ser)
c.251T>C (p.Phe84Ser)
n.392T>C
16g.20349134A>TCA394987765UMODc.167T>A (p.Phe56Tyr)
c.266T>A (p.Phe89Tyr)
c.314T>A (p.Phe105Tyr)
c.236T>A (p.Phe79Tyr)
c.329T>A (p.Phe110Tyr)
c.251T>A (p.Phe84Tyr)
n.392T>A
16g.20349135A>CCA394987768UMODc.166T>G (p.Phe56Val)
c.265T>G (p.Phe89Val)
c.313T>G (p.Phe105Val)
c.235T>G (p.Phe79Val)
c.328T>G (p.Phe110Val)
c.250T>G (p.Phe84Val)
n.391T>G
16g.20349135A>GCA394987770UMODc.166T>C (p.Phe56Leu)
c.265T>C (p.Phe89Leu)
c.313T>C (p.Phe105Leu)
c.235T>C (p.Phe79Leu)
c.328T>C (p.Phe110Leu)
c.250T>C (p.Phe84Leu)
n.391T>C
 gnomAD v4
16g.20349135A>TCA394987772UMODc.166T>A (p.Phe56Ile)
c.265T>A (p.Phe89Ile)
c.313T>A (p.Phe105Ile)
c.235T>A (p.Phe79Ile)
c.328T>A (p.Phe110Ile)
c.250T>A (p.Phe84Ile)
n.391T>A
16g.20349136G>ACA494097306UMODc.165C>T (p.Gly55=)
c.264C>T (p.Gly88=)
c.312C>T (p.Gly104=)
c.234C>T (p.Gly78=)
c.327C>T (p.Gly109=)
c.249C>T (p.Gly83=)
n.390C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.20349136G>CCA494097307UMODc.165C>G (p.Gly55=)
c.264C>G (p.Gly88=)
c.312C>G (p.Gly104=)
c.234C>G (p.Gly78=)
c.327C>G (p.Gly109=)
c.249C>G (p.Gly83=)
n.390C>G
16g.20349136G=CA2211943599UMODc.165C= (p.Gly55=)
c.264C= (p.Gly88=)
c.312C= (p.Gly104=)
c.234C= (p.Gly78=)
c.327C= (p.Gly109=)
c.249C= (p.Gly83=)
n.390C=
16g.20349136G>TCA494097309UMODc.165C>A (p.Gly55=)
c.264C>A (p.Gly88=)
c.312C>A (p.Gly104=)
c.234C>A (p.Gly78=)
c.327C>A (p.Gly109=)
c.249C>A (p.Gly83=)
n.390C>A
16g.20349137C>ACA394987778UMODc.164G>T (p.Gly55Val)
c.263G>T (p.Gly88Val)
c.311G>T (p.Gly104Val)
c.233G>T (p.Gly78Val)
c.326G>T (p.Gly109Val)
c.248G>T (p.Gly83Val)
n.389G>T
16g.20349137C>GCA394987776UMODc.164G>C (p.Gly55Ala)
c.263G>C (p.Gly88Ala)
c.311G>C (p.Gly104Ala)
c.233G>C (p.Gly78Ala)
c.326G>C (p.Gly109Ala)
c.248G>C (p.Gly83Ala)
n.389G>C
16g.20349137C>TCA394987774UMODc.164G>A (p.Gly55Asp)
c.263G>A (p.Gly88Asp)
c.311G>A (p.Gly104Asp)
c.233G>A (p.Gly78Asp)
c.326G>A (p.Gly109Asp)
c.248G>A (p.Gly83Asp)
n.389G>A
 gnomAD v4
16g.20349138C>ACA394987782UMODc.163G>T (p.Gly55Cys)
c.262G>T (p.Gly88Cys)
c.310G>T (p.Gly104Cys)
c.232G>T (p.Gly78Cys)
c.325G>T (p.Gly109Cys)
c.247G>T (p.Gly83Cys)
n.388G>T
16g.20349138C>GCA394987783UMODc.163G>C (p.Gly55Arg)
c.262G>C (p.Gly88Arg)
c.310G>C (p.Gly104Arg)
c.232G>C (p.Gly78Arg)
c.325G>C (p.Gly109Arg)
c.247G>C (p.Gly83Arg)
n.388G>C
16g.20349138C>TCA394987784UMODc.163G>A (p.Gly55Ser)
c.262G>A (p.Gly88Ser)
c.310G>A (p.Gly104Ser)
c.232G>A (p.Gly78Ser)
c.325G>A (p.Gly109Ser)
c.247G>A (p.Gly83Ser)
n.388G>A
16g.20349139C>ACA394987786UMODc.162G>T (p.Glu54Asp)
c.261G>T (p.Glu87Asp)
c.309G>T (p.Glu103Asp)
c.231G>T (p.Glu77Asp)
c.324G>T (p.Glu108Asp)
c.246G>T (p.Glu82Asp)
n.387G>T
16g.20349139C>GCA394987788UMODc.162G>C (p.Glu54Asp)
c.261G>C (p.Glu87Asp)
c.309G>C (p.Glu103Asp)
c.231G>C (p.Glu77Asp)
c.324G>C (p.Glu108Asp)
c.246G>C (p.Glu82Asp)
n.387G>C
16g.20349139C>TCA494097313UMODc.162G>A (p.Glu54=)
c.261G>A (p.Glu87=)
c.309G>A (p.Glu103=)
c.231G>A (p.Glu77=)
c.324G>A (p.Glu108=)
c.246G>A (p.Glu82=)
n.387G>A
 gnomAD v4
16g.20349140T>ACA394987792UMODc.161A>T (p.Glu54Val)
c.260A>T (p.Glu87Val)
c.308A>T (p.Glu103Val)
c.230A>T (p.Glu77Val)
c.323A>T (p.Glu108Val)
c.245A>T (p.Glu82Val)
n.386A>T
16g.20349140T>CCA394987794UMODc.161A>G (p.Glu54Gly)
c.260A>G (p.Glu87Gly)
c.308A>G (p.Glu103Gly)
c.230A>G (p.Glu77Gly)
c.323A>G (p.Glu108Gly)
c.245A>G (p.Glu82Gly)
n.386A>G
16g.20349140T>GCA394987796UMODc.161A>C (p.Glu54Ala)
c.260A>C (p.Glu87Ala)
c.308A>C (p.Glu103Ala)
c.230A>C (p.Glu77Ala)
c.323A>C (p.Glu108Ala)
c.245A>C (p.Glu82Ala)
n.386A>C
 gnomAD v4
16g.20349141C>ACA394987798UMODc.160G>T (p.Glu54Ter)
c.259G>T (p.Glu87Ter)
c.307G>T (p.Glu103Ter)
c.229G>T (p.Glu77Ter)
c.322G>T (p.Glu108Ter)
c.244G>T (p.Glu82Ter)
n.385G>T
16g.20349141C=CA2211943602UMODc.160G= (p.Glu54=)
c.259G= (p.Glu87=)
c.307G= (p.Glu103=)
c.229G= (p.Glu77=)
c.322G= (p.Glu108=)
c.244G= (p.Glu82=)
n.385G=
16g.20349141C>GCA394987800UMODc.160G>C (p.Glu54Gln)
c.259G>C (p.Glu87Gln)
c.307G>C (p.Glu103Gln)
c.229G>C (p.Glu77Gln)
c.322G>C (p.Glu108Gln)
c.244G>C (p.Glu82Gln)
n.385G>C
 dbSNP gnomAD v2
16g.20349141C>TCA394987802UMODc.160G>A (p.Glu54Lys)
c.259G>A (p.Glu87Lys)
c.307G>A (p.Glu103Lys)
c.229G>A (p.Glu77Lys)
c.322G>A (p.Glu108Lys)
c.244G>A (p.Glu82Lys)
n.385G>A
 COSMIC COSMIC
16g.20349142C>ACA394987804UMODc.159G>T (p.Gln53His)
c.258G>T (p.Gln86His)
c.306G>T (p.Gln102His)
c.228G>T (p.Gln76His)
c.321G>T (p.Gln107His)
c.243G>T (p.Gln81His)
n.384G>T
16g.20349142C>GCA394987807UMODc.159G>C (p.Gln53His)
c.258G>C (p.Gln86His)
c.306G>C (p.Gln102His)
c.228G>C (p.Gln76His)
c.321G>C (p.Gln107His)
c.243G>C (p.Gln81His)
n.384G>C
16g.20349142C>TCA494097317UMODc.159G>A (p.Gln53=)
c.258G>A (p.Gln86=)
c.306G>A (p.Gln102=)
c.228G>A (p.Gln76=)
c.321G>A (p.Gln107=)
c.243G>A (p.Gln81=)
n.384G>A
16g.20349143T>ACA394987810UMODc.158A>T (p.Gln53Leu)
c.257A>T (p.Gln86Leu)
c.305A>T (p.Gln102Leu)
c.227A>T (p.Gln76Leu)
c.320A>T (p.Gln107Leu)
c.242A>T (p.Gln81Leu)
n.383A>T
16g.20349143T>CCA394987812UMODc.158A>G (p.Gln53Arg)
c.257A>G (p.Gln86Arg)
c.305A>G (p.Gln102Arg)
c.227A>G (p.Gln76Arg)
c.320A>G (p.Gln107Arg)
c.242A>G (p.Gln81Arg)
n.383A>G
16g.20349143T>GCA394987809UMODc.158A>C (p.Gln53Pro)
c.257A>C (p.Gln86Pro)
c.305A>C (p.Gln102Pro)
c.227A>C (p.Gln76Pro)
c.320A>C (p.Gln107Pro)
c.242A>C (p.Gln81Pro)
n.383A>C
16g.20349144G>ACA394987820UMODc.157C>T (p.Gln53Ter)
c.256C>T (p.Gln86Ter)
c.304C>T (p.Gln102Ter)
c.226C>T (p.Gln76Ter)
c.319C>T (p.Gln107Ter)
c.241C>T (p.Gln81Ter)
n.382C>T
16g.20349144G>CCA394987815UMODc.157C>G (p.Gln53Glu)
c.256C>G (p.Gln86Glu)
c.304C>G (p.Gln102Glu)
c.226C>G (p.Gln76Glu)
c.319C>G (p.Gln107Glu)
c.241C>G (p.Gln81Glu)
n.382C>G
16g.20349144G=CA2211943604UMODc.157C= (p.Gln53=)
c.256C= (p.Gln86=)
c.304C= (p.Gln102=)
c.226C= (p.Gln76=)
c.319C= (p.Gln107=)
c.241C= (p.Gln81=)
n.382C=
16g.20349144G>TCA394987817UMODc.157C>A (p.Gln53Lys)
c.256C>A (p.Gln86Lys)
c.304C>A (p.Gln102Lys)
c.226C>A (p.Gln76Lys)
c.319C>A (p.Gln107Lys)
c.241C>A (p.Gln81Lys)
n.382C>A
 dbSNP
16g.20349145A=CA2211943607UMODc.156T= (p.Cys52=)
c.255T= (p.Cys85=)
c.303T= (p.Cys101=)
c.225T= (p.Cys75=)
c.318T= (p.Cys106=)
c.240T= (p.Cys80=)
n.381T=
16g.20349145A>CCA394987822UMODc.156T>G (p.Cys52Trp)
c.255T>G (p.Cys85Trp)
c.303T>G (p.Cys101Trp)
c.225T>G (p.Cys75Trp)
c.318T>G (p.Cys106Trp)
c.240T>G (p.Cys80Trp)
n.381T>G
16g.20349145A>GCA7939484UMODc.156T>C (p.Cys52=)
c.255T>C (p.Cys85=)
c.303T>C (p.Cys101=)
c.225T>C (p.Cys75=)
c.318T>C (p.Cys106=)
c.240T>C (p.Cys80=)
n.381T>C
 dbSNP ExAC gnomAD v4
16g.20349145A>TCA394987829UMODc.156T>A (p.Cys52Ter)
c.255T>A (p.Cys85Ter)
c.303T>A (p.Cys101Ter)
c.225T>A (p.Cys75Ter)
c.318T>A (p.Cys106Ter)
c.240T>A (p.Cys80Ter)
n.381T>A
16g.20349146C>ACA394987832UMODc.155G>T (p.Cys52Phe)
c.254G>T (p.Cys85Phe)
c.302G>T (p.Cys101Phe)
c.224G>T (p.Cys75Phe)
c.317G>T (p.Cys106Phe)
c.239G>T (p.Cys80Phe)
n.380G>T
 ClinVar dbSNP
16g.20349146C>GCA394987833UMODc.155G>C (p.Cys52Ser)
c.254G>C (p.Cys85Ser)
c.302G>C (p.Cys101Ser)
c.224G>C (p.Cys75Ser)
c.317G>C (p.Cys106Ser)
c.239G>C (p.Cys80Ser)
n.380G>C
16g.20349146C>TCA394987834UMODc.155G>A (p.Cys52Tyr)
c.254G>A (p.Cys85Tyr)
c.302G>A (p.Cys101Tyr)
c.224G>A (p.Cys75Tyr)
c.317G>A (p.Cys106Tyr)
c.239G>A (p.Cys80Tyr)
n.380G>A
16g.20349147A>CCA394987836UMODc.154T>G (p.Cys52Gly)
c.253T>G (p.Cys85Gly)
c.301T>G (p.Cys101Gly)
c.223T>G (p.Cys75Gly)
c.316T>G (p.Cys106Gly)
c.238T>G (p.Cys80Gly)
n.379T>G
16g.20349147A>GCA394987838UMODc.154T>C (p.Cys52Arg)
c.253T>C (p.Cys85Arg)
c.301T>C (p.Cys101Arg)
c.223T>C (p.Cys75Arg)
c.316T>C (p.Cys106Arg)
c.238T>C (p.Cys80Arg)
n.379T>C
16g.20349147A>TCA394987841UMODc.154T>A (p.Cys52Ser)
c.253T>A (p.Cys85Ser)
c.301T>A (p.Cys101Ser)
c.223T>A (p.Cys75Ser)
c.316T>A (p.Cys106Ser)
c.238T>A (p.Cys80Ser)
n.379T>A
16g.20349148G>ACA494097336UMODc.153C>T (p.Thr51=)
c.252C>T (p.Thr84=)
c.300C>T (p.Thr100=)
c.222C>T (p.Thr74=)
c.315C>T (p.Thr105=)
c.237C>T (p.Thr79=)
n.378C>T
16g.20349148G>CCA494097338UMODc.153C>G (p.Thr51=)
c.252C>G (p.Thr84=)
c.300C>G (p.Thr100=)
c.222C>G (p.Thr74=)
c.315C>G (p.Thr105=)
c.237C>G (p.Thr79=)
n.378C>G
16g.20349148G>TCA494097333UMODc.153C>A (p.Thr51=)
c.252C>A (p.Thr84=)
c.300C>A (p.Thr100=)
c.222C>A (p.Thr74=)
c.315C>A (p.Thr105=)
c.237C>A (p.Thr79=)
n.378C>A
16g.20349149G>ACA394987848UMODc.152C>T (p.Thr51Ile)
c.251C>T (p.Thr84Ile)
c.299C>T (p.Thr100Ile)
c.221C>T (p.Thr74Ile)
c.314C>T (p.Thr105Ile)
c.236C>T (p.Thr79Ile)
n.377C>T
 dbSNP gnomAD v3 gnomAD v4
16g.20349149G>CCA394987846UMODc.152C>G (p.Thr51Ser)
c.251C>G (p.Thr84Ser)
c.299C>G (p.Thr100Ser)
c.221C>G (p.Thr74Ser)
c.314C>G (p.Thr105Ser)
c.236C>G (p.Thr79Ser)
n.377C>G
16g.20349149G=CA2211943611UMODc.152C= (p.Thr51=)
c.251C= (p.Thr84=)
c.299C= (p.Thr100=)
c.221C= (p.Thr74=)
c.314C= (p.Thr105=)
c.236C= (p.Thr79=)
n.377C=
16g.20349149G>TCA7939485UMODc.152C>A (p.Thr51Asn)
c.251C>A (p.Thr84Asn)
c.299C>A (p.Thr100Asn)
c.221C>A (p.Thr74Asn)
c.314C>A (p.Thr105Asn)
c.236C>A (p.Thr79Asn)
n.377C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20349150T>ACA394987850UMODc.151A>T (p.Thr51Ser)
c.250A>T (p.Thr84Ser)
c.298A>T (p.Thr100Ser)
c.220A>T (p.Thr74Ser)
c.313A>T (p.Thr105Ser)
c.235A>T (p.Thr79Ser)
n.376A>T
16g.20349150T>CCA394987851UMODc.151A>G (p.Thr51Ala)
c.250A>G (p.Thr84Ala)
c.298A>G (p.Thr100Ala)
c.220A>G (p.Thr74Ala)
c.313A>G (p.Thr105Ala)
c.235A>G (p.Thr79Ala)
n.376A>G
 gnomAD v4
16g.20349150T>GCA394987853UMODc.151A>C (p.Thr51Pro)
c.250A>C (p.Thr84Pro)
c.298A>C (p.Thr100Pro)
c.220A>C (p.Thr74Pro)
c.313A>C (p.Thr105Pro)
c.235A>C (p.Thr79Pro)
n.376A>C

Number of alleles fetched