Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.31184961C>ACA494928632FUSc.546C>A (p.Ser182=)
c.543C>A (p.Ser181=)
n.611C>A
c.534C>A (p.Ser178=)
n.651C>A
c.-35C>A (n.-35C>A)
c.540C>A (p.Ser180=)
c.537C>A (p.Ser179=)
dbSNP
16g.31184961C=CA2216944646FUSc.546C= (p.Ser182=)
c.543C= (p.Ser181=)
n.611C=
c.534C= (p.Ser178=)
n.651C=
c.-35C= (n.-35C=)
c.540C= (p.Ser180=)
c.537C= (p.Ser179=)
16g.31184961C>GCA494928633FUSc.546C>G (p.Ser182=)
c.543C>G (p.Ser181=)
n.611C>G
c.534C>G (p.Ser178=)
n.651C>G
c.-35C>G (n.-35C>G)
c.540C>G (p.Ser180=)
c.537C>G (p.Ser179=)
16g.31184961C>TCA8023706FUSc.546C>T (p.Ser182=)
c.543C>T (p.Ser181=)
n.611C>T
c.534C>T (p.Ser178=)
n.651C>T
c.-35C>T (n.-35C>T)
c.540C>T (p.Ser180=)
c.537C>T (p.Ser179=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.31184962T>ACA395669593FUSc.547T>A (p.Ser183Thr)
c.544T>A (p.Ser182Thr)
n.612T>A
c.535T>A (p.Ser179Thr)
n.652T>A
c.-34T>A (n.-34T>A)
c.541T>A (p.Ser181Thr)
c.538T>A (p.Ser180Thr)
16g.31184962T>CCA395669590FUSc.547T>C (p.Ser183Pro)
c.544T>C (p.Ser182Pro)
n.612T>C
c.535T>C (p.Ser179Pro)
n.652T>C
c.-34T>C (n.-34T>C)
c.541T>C (p.Ser181Pro)
c.538T>C (p.Ser180Pro)
16g.31184962T>GCA395669591FUSc.547T>G (p.Ser183Ala)
c.544T>G (p.Ser182Ala)
n.612T>G
c.535T>G (p.Ser179Ala)
n.652T>G
c.-34T>G (n.-34T>G)
c.541T>G (p.Ser181Ala)
c.538T>G (p.Ser180Ala)
16g.31184963C>ACA395669595FUSc.548C>A (p.Ser183Tyr)
c.545C>A (p.Ser182Tyr)
n.613C>A
c.536C>A (p.Ser179Tyr)
n.653C>A
c.-33C>A (n.-33C>A)
c.542C>A (p.Ser181Tyr)
c.539C>A (p.Ser180Tyr)
16g.31184963C>GCA395669597FUSc.548C>G (p.Ser183Cys)
c.545C>G (p.Ser182Cys)
n.613C>G
c.536C>G (p.Ser179Cys)
n.653C>G
c.-33C>G (n.-33C>G)
c.542C>G (p.Ser181Cys)
c.539C>G (p.Ser180Cys)
16g.31184963C>TCA395669598FUSc.548C>T (p.Ser183Phe)
c.545C>T (p.Ser182Phe)
n.613C>T
c.536C>T (p.Ser179Phe)
n.653C>T
c.-33C>T (n.-33C>T)
c.542C>T (p.Ser181Phe)
c.539C>T (p.Ser180Phe)
16g.31184964C>ACA494928635FUSc.549C>A (p.Ser183=)
c.546C>A (p.Ser182=)
n.614C>A
c.537C>A (p.Ser179=)
n.654C>A
c.-32C>A (n.-32C>A)
c.543C>A (p.Ser181=)
c.540C>A (p.Ser180=)
16g.31184964C>GCA494928636FUSc.549C>G (p.Ser183=)
c.546C>G (p.Ser182=)
n.614C>G
c.537C>G (p.Ser179=)
n.654C>G
c.-32C>G (n.-32C>G)
c.543C>G (p.Ser181=)
c.540C>G (p.Ser180=)
16g.31184964C>TCA494928637FUSc.549C>T (p.Ser183=)
c.546C>T (p.Ser182=)
n.614C>T
c.537C>T (p.Ser179=)
n.654C>T
c.-32C>T (n.-32C>T)
c.543C>T (p.Ser181=)
c.540C>T (p.Ser180=)
gnomAD v4
16g.31184965A=CA2216944650FUSc.550A= (p.Met184=)
c.547A= (p.Met183=)
n.615A=
c.538A= (p.Met180=)
n.655A=
c.-31A= (n.-31A=)
c.544A= (p.Met182=)
c.541A= (p.Met181=)
16g.31184965A>CCA8023707FUSc.550A>C (p.Met184Leu)
c.547A>C (p.Met183Leu)
n.615A>C
c.538A>C (p.Met180Leu)
n.655A>C
c.-31A>C (n.-31A>C)
c.544A>C (p.Met182Leu)
c.541A>C (p.Met181Leu)
dbSNP ExAC
16g.31184965A>GCA395669600FUSc.550A>G (p.Met184Val)
c.547A>G (p.Met183Val)
n.615A>G
c.538A>G (p.Met180Val)
n.655A>G
c.-31A>G (n.-31A>G)
c.544A>G (p.Met182Val)
c.541A>G (p.Met181Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.31184965A>TCA395669599FUSc.550A>T (p.Met184Leu)
c.547A>T (p.Met183Leu)
n.615A>T
c.538A>T (p.Met180Leu)
n.655A>T
c.-31A>T (n.-31A>T)
c.544A>T (p.Met182Leu)
c.541A>T (p.Met181Leu)
16g.31184966T>ACA395669601FUSc.551T>A (p.Met184Lys)
c.548T>A (p.Met183Lys)
n.616T>A
c.539T>A (p.Met180Lys)
n.656T>A
c.-30T>A (n.-30T>A)
c.545T>A (p.Met182Lys)
c.542T>A (p.Met181Lys)
16g.31184966T>CCA395669603FUSc.551T>C (p.Met184Thr)
c.548T>C (p.Met183Thr)
n.616T>C
c.539T>C (p.Met180Thr)
n.656T>C
c.-30T>C (n.-30T>C)
c.545T>C (p.Met182Thr)
c.542T>C (p.Met181Thr)
16g.31184966T>GCA395669604FUSc.551T>G (p.Met184Arg)
c.548T>G (p.Met183Arg)
n.616T>G
c.539T>G (p.Met180Arg)
n.656T>G
c.-30T>G (n.-30T>G)
c.545T>G (p.Met182Arg)
c.542T>G (p.Met181Arg)
dbSNP
16g.31184966T=CA2216944655FUSc.551T= (p.Met184=)
c.548T= (p.Met183=)
n.616T=
c.539T= (p.Met180=)
n.656T=
c.-30T= (n.-30T=)
c.545T= (p.Met182=)
c.542T= (p.Met181=)
16g.31184967G>ACA395669605FUSc.552G>A (p.Met184Ile)
c.549G>A (p.Met183Ile)
n.617G>A
c.540G>A (p.Met180Ile)
n.657G>A
c.-29G>A (n.-29G>A)
c.546G>A (p.Met182Ile)
c.543G>A (p.Met181Ile)
gnomAD v4
16g.31184967G>CCA395669606FUSc.552G>C (p.Met184Ile)
c.549G>C (p.Met183Ile)
n.617G>C
c.540G>C (p.Met180Ile)
n.657G>C
c.-29G>C (n.-29G>C)
c.546G>C (p.Met182Ile)
c.543G>C (p.Met181Ile)
16g.31184967G>TCA395669607FUSc.552G>T (p.Met184Ile)
c.549G>T (p.Met183Ile)
n.617G>T
c.540G>T (p.Met180Ile)
n.657G>T
c.-29G>T (n.-29G>T)
c.546G>T (p.Met182Ile)
c.543G>T (p.Met181Ile)
16g.31184968A>CCA395669609FUSc.553A>C (p.Ser185Arg)
c.550A>C (p.Ser184Arg)
n.618A>C
c.541A>C (p.Ser181Arg)
n.658A>C
c.-28A>C (n.-28A>C)
c.547A>C (p.Ser183Arg)
c.544A>C (p.Ser182Arg)
16g.31184968A>GCA395669612FUSc.553A>G (p.Ser185Gly)
c.550A>G (p.Ser184Gly)
n.618A>G
c.541A>G (p.Ser181Gly)
n.658A>G
c.-28A>G (n.-28A>G)
c.547A>G (p.Ser183Gly)
c.544A>G (p.Ser182Gly)
16g.31184968A>TCA395669610FUSc.553A>T (p.Ser185Cys)
c.550A>T (p.Ser184Cys)
n.618A>T
c.541A>T (p.Ser181Cys)
n.658A>T
c.-28A>T (n.-28A>T)
c.547A>T (p.Ser183Cys)
c.544A>T (p.Ser182Cys)
16g.31184969G>ACA395669613FUSc.554G>A (p.Ser185Asn)
c.551G>A (p.Ser184Asn)
n.619G>A
c.542G>A (p.Ser181Asn)
n.659G>A
c.-27G>A (n.-27G>A)
c.548G>A (p.Ser183Asn)
c.545G>A (p.Ser182Asn)
16g.31184969G>CCA395669614FUSc.554G>C (p.Ser185Thr)
c.551G>C (p.Ser184Thr)
n.619G>C
c.542G>C (p.Ser181Thr)
n.659G>C
c.-27G>C (n.-27G>C)
c.548G>C (p.Ser183Thr)
c.545G>C (p.Ser182Thr)
16g.31184969G>TCA395669615FUSc.554G>T (p.Ser185Ile)
c.551G>T (p.Ser184Ile)
n.619G>T
c.542G>T (p.Ser181Ile)
n.659G>T
c.-27G>T (n.-27G>T)
c.548G>T (p.Ser183Ile)
c.545G>T (p.Ser182Ile)
16g.31184970T>ACA395669616FUSc.555T>A (p.Ser185Arg)
c.552T>A (p.Ser184Arg)
n.620T>A
c.543T>A (p.Ser181Arg)
n.660T>A
c.-26T>A (n.-26T>A)
c.549T>A (p.Ser183Arg)
c.546T>A (p.Ser182Arg)
16g.31184970T>CCA494928641FUSc.555T>C (p.Ser185=)
c.552T>C (p.Ser184=)
n.620T>C
c.543T>C (p.Ser181=)
n.660T>C
c.-26T>C (n.-26T>C)
c.549T>C (p.Ser183=)
c.546T>C (p.Ser182=)
16g.31184970T>GCA8023708FUSc.555T>G (p.Ser185Arg)
c.552T>G (p.Ser184Arg)
n.620T>G
c.543T>G (p.Ser181Arg)
n.660T>G
c.-26T>G (n.-26T>G)
c.549T>G (p.Ser183Arg)
c.546T>G (p.Ser182Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31184970T=CA2216944657FUSc.555T= (p.Ser185=)
c.552T= (p.Ser184=)
n.620T=
c.543T= (p.Ser181=)
n.660T=
c.-26T= (n.-26T=)
c.549T= (p.Ser183=)
c.546T= (p.Ser182=)
16g.31184971A>CCA395669617FUSc.556A>C (p.Ser186Arg)
c.553A>C (p.Ser185Arg)
n.621A>C
c.544A>C (p.Ser182Arg)
n.661A>C
c.-25A>C (n.-25A>C)
c.550A>C (p.Ser184Arg)
c.547A>C (p.Ser183Arg)
16g.31184971A>GCA395669618FUSc.556A>G (p.Ser186Gly)
c.553A>G (p.Ser185Gly)
n.621A>G
c.544A>G (p.Ser182Gly)
n.661A>G
c.-25A>G (n.-25A>G)
c.550A>G (p.Ser184Gly)
c.547A>G (p.Ser183Gly)
16g.31184971A>TCA395669619FUSc.556A>T (p.Ser186Cys)
c.553A>T (p.Ser185Cys)
n.621A>T
c.544A>T (p.Ser182Cys)
n.661A>T
c.-25A>T (n.-25A>T)
c.550A>T (p.Ser184Cys)
c.547A>T (p.Ser183Cys)
16g.31184972G>ACA395669620FUSc.557G>A (p.Ser186Asn)
c.554G>A (p.Ser185Asn)
n.622G>A
c.545G>A (p.Ser182Asn)
n.662G>A
c.-24G>A (n.-24G>A)
c.551G>A (p.Ser184Asn)
c.548G>A (p.Ser183Asn)
gnomAD v4
16g.31184972G>CCA395669622FUSc.557G>C (p.Ser186Thr)
c.554G>C (p.Ser185Thr)
n.622G>C
c.545G>C (p.Ser182Thr)
n.662G>C
c.-24G>C (n.-24G>C)
c.551G>C (p.Ser184Thr)
c.548G>C (p.Ser183Thr)
16g.31184972G=CA2216944660FUSc.557G= (p.Ser186=)
c.554G= (p.Ser185=)
n.622G=
c.545G= (p.Ser182=)
n.662G=
c.-24G= (n.-24G=)
c.551G= (p.Ser184=)
c.548G= (p.Ser183=)
16g.31184972G>TCA8023709FUSc.557G>T (p.Ser186Ile)
c.554G>T (p.Ser185Ile)
n.622G>T
c.545G>T (p.Ser182Ile)
n.662G>T
c.-24G>T (n.-24G>T)
c.551G>T (p.Ser184Ile)
c.548G>T (p.Ser183Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31184973T>ACA395669626FUSc.558T>A (p.Ser186Arg)
c.555T>A (p.Ser185Arg)
n.623T>A
c.546T>A (p.Ser182Arg)
n.663T>A
c.-23T>A (n.-23T>A)
c.552T>A (p.Ser184Arg)
c.549T>A (p.Ser183Arg)
16g.31184973T>CCA494928645FUSc.558T>C (p.Ser186=)
c.555T>C (p.Ser185=)
n.623T>C
c.546T>C (p.Ser182=)
n.663T>C
c.-23T>C (n.-23T>C)
c.552T>C (p.Ser184=)
c.549T>C (p.Ser183=)
16g.31184973T>GCA395669624FUSc.558T>G (p.Ser186Arg)
c.555T>G (p.Ser185Arg)
n.623T>G
c.546T>G (p.Ser182Arg)
n.663T>G
c.-23T>G (n.-23T>G)
c.552T>G (p.Ser184Arg)
c.549T>G (p.Ser183Arg)
16g.31184974G>ACA8023710FUSc.559G>A (p.Gly187Ser)
c.556G>A (p.Gly186Ser)
n.624G>A
c.547G>A (p.Gly183Ser)
n.664G>A
c.-22G>A (n.-22G>A)
c.553G>A (p.Gly185Ser)
c.550G>A (p.Gly184Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.31184974G>CCA395669628FUSc.559G>C (p.Gly187Arg)
c.556G>C (p.Gly186Arg)
n.624G>C
c.547G>C (p.Gly183Arg)
n.664G>C
c.-22G>C (n.-22G>C)
c.553G>C (p.Gly185Arg)
c.550G>C (p.Gly184Arg)
16g.31184974G=CA2216944664FUSc.559G= (p.Gly187=)
c.556G= (p.Gly186=)
n.624G=
c.547G= (p.Gly183=)
n.664G=
c.-22G= (n.-22G=)
c.553G= (p.Gly185=)
c.550G= (p.Gly184=)
16g.31184974G>TCA395669630FUSc.559G>T (p.Gly187Cys)
c.556G>T (p.Gly186Cys)
n.624G>T
c.547G>T (p.Gly183Cys)
n.664G>T
c.-22G>T (n.-22G>T)
c.553G>T (p.Gly185Cys)
c.550G>T (p.Gly184Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31184974_31184983delinsGGTGGTGGCACA2216944666FUSc.559_568delinsGGTGGTGGCA (p.Gly187=)
c.556_565delinsGGTGGTGGCA (p.Gly186=)
n.624_633delinsGGTGGTGGCA
c.547_556delinsGGTGGTGGCA (p.Gly183=)
n.664_673delinsGGTGGTGGCA
c.-22_-13delinsGGTGGTGGCA (n.-22_-13delinsGGTGGTGGCA)
c.553_562delinsGGTGGTGGCA (p.Gly185=)
c.550_559delinsGGTGGTGGCA (p.Gly184=)
16g.31184975G>ACA395669633FUSc.560G>A (p.Gly187Asp)
c.557G>A (p.Gly186Asp)
n.625G>A
c.548G>A (p.Gly183Asp)
n.665G>A
c.-21G>A (n.-21G>A)
c.554G>A (p.Gly185Asp)
c.551G>A (p.Gly184Asp)
16g.31184975G>CCA395669634FUSc.560G>C (p.Gly187Ala)
c.557G>C (p.Gly186Ala)
n.625G>C
c.548G>C (p.Gly183Ala)
n.665G>C
c.-21G>C (n.-21G>C)
c.554G>C (p.Gly185Ala)
c.551G>C (p.Gly184Ala)
16g.31184975G>TCA395669635FUSc.560G>T (p.Gly187Val)
c.557G>T (p.Gly186Val)
n.625G>T
c.548G>T (p.Gly183Val)
n.665G>T
c.-21G>T (n.-21G>T)
c.554G>T (p.Gly185Val)
c.551G>T (p.Gly184Val)
16g.31184983_31184991delCA8023711FUSc.568_576del (p.Ser190_Gly192del)
c.565_573del (p.Ser189_Gly191del)
n.633_641del
c.556_564del (p.Ser186_Gly188del)
n.673_681del
c.-13_-5del (n.-13_-5del)
c.562_570del (p.Ser188_Gly190del)
c.559_567del (p.Ser187_Gly189del)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.31184976T>ACA494928651FUSc.561T>A (p.Gly187=)
c.558T>A (p.Gly186=)
n.626T>A
c.549T>A (p.Gly183=)
n.666T>A
c.-20T>A (n.-20T>A)
c.555T>A (p.Gly185=)
c.552T>A (p.Gly184=)
16g.31184976T>CCA494928650FUSc.561T>C (p.Gly187=)
c.558T>C (p.Gly186=)
n.626T>C
c.549T>C (p.Gly183=)
n.666T>C
c.-20T>C (n.-20T>C)
c.555T>C (p.Gly185=)
c.552T>C (p.Gly184=)
16g.31184976T>GCA494928649FUSc.561T>G (p.Gly187=)
c.558T>G (p.Gly186=)
n.626T>G
c.549T>G (p.Gly183=)
n.666T>G
c.-20T>G (n.-20T>G)
c.555T>G (p.Gly185=)
c.552T>G (p.Gly184=)
16g.31184977G>ACA395669638FUSc.562G>A (p.Gly188Ser)
c.559G>A (p.Gly187Ser)
n.627G>A
c.550G>A (p.Gly184Ser)
n.667G>A
c.-19G>A (n.-19G>A)
c.556G>A (p.Gly186Ser)
c.553G>A (p.Gly185Ser)
gnomAD v4
16g.31184977G>CCA395669640FUSc.562G>C (p.Gly188Arg)
c.559G>C (p.Gly187Arg)
n.627G>C
c.550G>C (p.Gly184Arg)
n.667G>C
c.-19G>C (n.-19G>C)
c.556G>C (p.Gly186Arg)
c.553G>C (p.Gly185Arg)
16g.31184977G>TCA395669641FUSc.562G>T (p.Gly188Cys)
c.559G>T (p.Gly187Cys)
n.627G>T
c.550G>T (p.Gly184Cys)
n.667G>T
c.-19G>T (n.-19G>T)
c.556G>T (p.Gly186Cys)
c.553G>T (p.Gly185Cys)
16g.31184978G>ACA395669642FUSc.563G>A (p.Gly188Asp)
c.560G>A (p.Gly187Asp)
n.628G>A
c.551G>A (p.Gly184Asp)
n.668G>A
c.-18G>A (n.-18G>A)
c.557G>A (p.Gly186Asp)
c.554G>A (p.Gly185Asp)
16g.31184978G>CCA395669643FUSc.563G>C (p.Gly188Ala)
c.560G>C (p.Gly187Ala)
n.628G>C
c.551G>C (p.Gly184Ala)
n.668G>C
c.-18G>C (n.-18G>C)
c.557G>C (p.Gly186Ala)
c.554G>C (p.Gly185Ala)
16g.31184978G>TCA395669645FUSc.563G>T (p.Gly188Val)
c.560G>T (p.Gly187Val)
n.628G>T
c.551G>T (p.Gly184Val)
n.668G>T
c.-18G>T (n.-18G>T)
c.557G>T (p.Gly186Val)
c.554G>T (p.Gly185Val)
16g.31184979T>ACA494928655FUSc.564T>A (p.Gly188=)
c.561T>A (p.Gly187=)
n.629T>A
c.552T>A (p.Gly184=)
n.669T>A
c.-17T>A (n.-17T>A)
c.558T>A (p.Gly186=)
c.555T>A (p.Gly185=)
16g.31184979T>CCA494928653FUSc.564T>C (p.Gly188=)
c.561T>C (p.Gly187=)
n.629T>C
c.552T>C (p.Gly184=)
n.669T>C
c.-17T>C (n.-17T>C)
c.558T>C (p.Gly186=)
c.555T>C (p.Gly185=)
gnomAD v4
16g.31184979T>GCA494928654FUSc.564T>G (p.Gly188=)
c.561T>G (p.Gly187=)
n.629T>G
c.552T>G (p.Gly184=)
n.669T>G
c.-17T>G (n.-17T>G)
c.558T>G (p.Gly186=)
c.555T>G (p.Gly185=)
16g.31184980G>ACA395669650FUSc.565G>A (p.Gly189Ser)
c.562G>A (p.Gly188Ser)
n.630G>A
c.553G>A (p.Gly185Ser)
n.670G>A
c.-16G>A (n.-16G>A)
c.559G>A (p.Gly187Ser)
c.556G>A (p.Gly186Ser)
16g.31184980G>CCA395669649FUSc.565G>C (p.Gly189Arg)
c.562G>C (p.Gly188Arg)
n.630G>C
c.553G>C (p.Gly185Arg)
n.670G>C
c.-16G>C (n.-16G>C)
c.559G>C (p.Gly187Arg)
c.556G>C (p.Gly186Arg)
16g.31184980G>TCA395669647FUSc.565G>T (p.Gly189Cys)
c.562G>T (p.Gly188Cys)
n.630G>T
c.553G>T (p.Gly185Cys)
n.670G>T
c.-16G>T (n.-16G>T)
c.559G>T (p.Gly187Cys)
c.556G>T (p.Gly186Cys)
16g.31184981G>ACA395669652FUSc.566G>A (p.Gly189Asp)
c.563G>A (p.Gly188Asp)
n.631G>A
c.554G>A (p.Gly185Asp)
n.671G>A
c.-15G>A (n.-15G>A)
c.560G>A (p.Gly187Asp)
c.557G>A (p.Gly186Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.31184981G>CCA395669654FUSc.566G>C (p.Gly189Ala)
c.563G>C (p.Gly188Ala)
n.631G>C
c.554G>C (p.Gly185Ala)
n.671G>C
c.-15G>C (n.-15G>C)
c.560G>C (p.Gly187Ala)
c.557G>C (p.Gly186Ala)
16g.31184981G=CA2216944669FUSc.566G= (p.Gly189=)
c.563G= (p.Gly188=)
n.631G=
c.554G= (p.Gly185=)
n.671G=
c.-15G= (n.-15G=)
c.560G= (p.Gly187=)
c.557G= (p.Gly186=)
16g.31184981G>TCA395669655FUSc.566G>T (p.Gly189Val)
c.563G>T (p.Gly188Val)
n.631G>T
c.554G>T (p.Gly185Val)
n.671G>T
c.-15G>T (n.-15G>T)
c.560G>T (p.Gly187Val)
c.557G>T (p.Gly186Val)
16g.31184982C>ACA494928658FUSc.567C>A (p.Gly189=)
c.564C>A (p.Gly188=)
n.632C>A
c.555C>A (p.Gly185=)
n.672C>A
c.-14C>A (n.-14C>A)
c.561C>A (p.Gly187=)
c.558C>A (p.Gly186=)
16g.31184982C=CA2216944671FUSc.567C= (p.Gly189=)
c.564C= (p.Gly188=)
n.632C=
c.555C= (p.Gly185=)
n.672C=
c.-14C= (n.-14C=)
c.561C= (p.Gly187=)
c.558C= (p.Gly186=)
16g.31184982C>GCA494928657FUSc.567C>G (p.Gly189=)
c.564C>G (p.Gly188=)
n.632C>G
c.555C>G (p.Gly185=)
n.672C>G
c.-14C>G (n.-14C>G)
c.561C>G (p.Gly187=)
c.558C>G (p.Gly186=)
16g.31184982C>TCA494928656FUSc.567C>T (p.Gly189=)
c.564C>T (p.Gly188=)
n.632C>T
c.555C>T (p.Gly185=)
n.672C>T
c.-14C>T (n.-14C>T)
c.561C>T (p.Gly187=)
c.558C>T (p.Gly186=)
dbSNP
16g.31184982_31184988delinsCAGTGGTCA2216944673FUSc.567_573delinsCAGTGGT (p.Gly189=)
c.564_570delinsCAGTGGT (p.Gly188=)
n.632_638delinsCAGTGGT
c.555_561delinsCAGTGGT (p.Gly185=)
n.672_678delinsCAGTGGT
c.-14_-8delinsCAGTGGT (n.-14_-8delinsCAGTGGT)
c.561_567delinsCAGTGGT (p.Gly187=)
c.558_564delinsCAGTGGT (p.Gly186=)
16g.31184983A=CA2216944676FUSc.568A= (p.Ser190=)
c.565A= (p.Ser189=)
n.633A=
c.556A= (p.Ser186=)
n.673A=
c.-13A= (n.-13A=)
c.562A= (p.Ser188=)
c.559A= (p.Ser187=)
16g.31184983A>CCA395669657FUSc.568A>C (p.Ser190Arg)
c.565A>C (p.Ser189Arg)
n.633A>C
c.556A>C (p.Ser186Arg)
n.673A>C
c.-13A>C (n.-13A>C)
c.562A>C (p.Ser188Arg)
c.559A>C (p.Ser187Arg)
16g.31184983A>GCA8023712FUSc.568A>G (p.Ser190Gly)
c.565A>G (p.Ser189Gly)
n.633A>G
c.556A>G (p.Ser186Gly)
n.673A>G
c.-13A>G (n.-13A>G)
c.562A>G (p.Ser188Gly)
c.559A>G (p.Ser187Gly)
dbSNP ExAC gnomAD v2
16g.31184983A>TCA395669658FUSc.568A>T (p.Ser190Cys)
c.565A>T (p.Ser189Cys)
n.633A>T
c.556A>T (p.Ser186Cys)
n.673A>T
c.-13A>T (n.-13A>T)
c.562A>T (p.Ser188Cys)
c.559A>T (p.Ser187Cys)
16g.31184983_31184988delCA2216944675FUSc.568_573del (p.Ser190_Gly191del)
c.565_570del (p.Ser189_Gly190del)
n.633_638del
c.556_561del (p.Ser186_Gly187del)
n.673_678del
c.-13_-8del (n.-13_-8del)
c.562_567del (p.Ser188_Gly189del)
c.559_564del (p.Ser187_Gly188del)
dbSNP
16g.31184984G>ACA395669659FUSc.569G>A (p.Ser190Asn)
c.566G>A (p.Ser189Asn)
n.634G>A
c.557G>A (p.Ser186Asn)
n.674G>A
c.-12G>A (n.-12G>A)
c.563G>A (p.Ser188Asn)
c.560G>A (p.Ser187Asn)
16g.31184984G>CCA395669661FUSc.569G>C (p.Ser190Thr)
c.566G>C (p.Ser189Thr)
n.634G>C
c.557G>C (p.Ser186Thr)
n.674G>C
c.-12G>C (n.-12G>C)
c.563G>C (p.Ser188Thr)
c.560G>C (p.Ser187Thr)
16g.31184984G>TCA395669662FUSc.569G>T (p.Ser190Ile)
c.566G>T (p.Ser189Ile)
n.634G>T
c.557G>T (p.Ser186Ile)
n.674G>T
c.-12G>T (n.-12G>T)
c.563G>T (p.Ser188Ile)
c.560G>T (p.Ser187Ile)
16g.31184985T>ACA395669664FUSc.570T>A (p.Ser190Arg)
c.567T>A (p.Ser189Arg)
n.635T>A
c.558T>A (p.Ser186Arg)
n.675T>A
c.-11T>A (n.-11T>A)
c.564T>A (p.Ser188Arg)
c.561T>A (p.Ser187Arg)
16g.31184985T>CCA494928660FUSc.570T>C (p.Ser190=)
c.567T>C (p.Ser189=)
n.635T>C
c.558T>C (p.Ser186=)
n.675T>C
c.-11T>C (n.-11T>C)
c.564T>C (p.Ser188=)
c.561T>C (p.Ser187=)
16g.31184985T>GCA395669665FUSc.570T>G (p.Ser190Arg)
c.567T>G (p.Ser189Arg)
n.635T>G
c.558T>G (p.Ser186Arg)
n.675T>G
c.-11T>G (n.-11T>G)
c.564T>G (p.Ser188Arg)
c.561T>G (p.Ser187Arg)
16g.31184985T=CA2216944680FUSc.570T= (p.Ser190=)
c.567T= (p.Ser189=)
n.635T=
c.558T= (p.Ser186=)
n.675T=
c.-11T= (n.-11T=)
c.564T= (p.Ser188=)
c.561T= (p.Ser187=)
16g.31184986G>ACA280594678FUSc.571G>A (p.Gly191Ser)
c.568G>A (p.Gly190Ser)
n.636G>A
c.559G>A (p.Gly187Ser)
n.676G>A
c.-10G>A (n.-10G>A)
c.565G>A (p.Gly189Ser)
c.562G>A (p.Gly188Ser)
ClinVar dbSNP gnomAD v4
16g.31184986G>CCA395669667FUSc.571G>C (p.Gly191Arg)
c.568G>C (p.Gly190Arg)
n.636G>C
c.559G>C (p.Gly187Arg)
n.676G>C
c.-10G>C (n.-10G>C)
c.565G>C (p.Gly189Arg)
c.562G>C (p.Gly188Arg)
16g.31184986G=CA2216944686FUSc.571G= (p.Gly191=)
c.568G= (p.Gly190=)
n.636G=
c.559G= (p.Gly187=)
n.676G=
c.-10G= (n.-10G=)
c.565G= (p.Gly189=)
c.562G= (p.Gly188=)
16g.31184986G>TCA395669669FUSc.571G>T (p.Gly191Cys)
c.568G>T (p.Gly190Cys)
n.636G>T
c.559G>T (p.Gly187Cys)
n.676G>T
c.-10G>T (n.-10G>T)
c.565G>T (p.Gly189Cys)
c.562G>T (p.Gly188Cys)
16g.31184987dupCA919689811FUSc.572dup (p.Gly192TrpfsTer?)
c.569dup (p.Gly191TrpfsTer?)
n.637dup
c.560dup (p.Gly188TrpfsTer?)
n.677dup
c.-9dup (n.-9dup)
c.566dup (p.Gly190TrpfsTer?)
c.563dup (p.Gly189TrpfsTer?)
dbSNP
16g.31184987G>ACA395669674FUSc.572G>A (p.Gly191Asp)
c.569G>A (p.Gly190Asp)
n.637G>A
c.560G>A (p.Gly187Asp)
n.677G>A
c.-9G>A (n.-9G>A)
c.566G>A (p.Gly189Asp)
c.563G>A (p.Gly188Asp)
16g.31184987G>CCA395669672FUSc.572G>C (p.Gly191Ala)
c.569G>C (p.Gly190Ala)
n.637G>C
c.560G>C (p.Gly187Ala)
n.677G>C
c.-9G>C (n.-9G>C)
c.566G>C (p.Gly189Ala)
c.563G>C (p.Gly188Ala)
16g.31184987G>TCA395669671FUSc.572G>T (p.Gly191Val)
c.569G>T (p.Gly190Val)
n.637G>T
c.560G>T (p.Gly187Val)
n.677G>T
c.-9G>T (n.-9G>T)
c.566G>T (p.Gly189Val)
c.563G>T (p.Gly188Val)
16g.31184988T>ACA494928664FUSc.573T>A (p.Gly191=)
c.570T>A (p.Gly190=)
n.638T>A
c.561T>A (p.Gly187=)
n.678T>A
c.-8T>A (n.-8T>A)
c.567T>A (p.Gly189=)
c.564T>A (p.Gly188=)
16g.31184988T>CCA494928665FUSc.573T>C (p.Gly191=)
c.570T>C (p.Gly190=)
n.638T>C
c.561T>C (p.Gly187=)
n.678T>C
c.-8T>C (n.-8T>C)
c.567T>C (p.Gly189=)
c.564T>C (p.Gly188=)
16g.31184988T>GCA494928666FUSc.573T>G (p.Gly191=)
c.570T>G (p.Gly190=)
n.638T>G
c.561T>G (p.Gly187=)
n.678T>G
c.-8T>G (n.-8T>G)
c.567T>G (p.Gly189=)
c.564T>G (p.Gly188=)
dbSNP
16g.31184988T=CA2216944691FUSc.573T= (p.Gly191=)
c.570T= (p.Gly190=)
n.638T=
c.561T= (p.Gly187=)
n.678T=
c.-8T= (n.-8T=)
c.567T= (p.Gly189=)
c.564T= (p.Gly188=)
16g.31184989G>ACA395669676FUSc.574G>A (p.Gly192Ser)
c.571G>A (p.Gly191Ser)
n.639G>A
c.562G>A (p.Gly188Ser)
n.679G>A
c.-7G>A (n.-7G>A)
c.568G>A (p.Gly190Ser)
c.565G>A (p.Gly189Ser)
16g.31184989G>CCA395669679FUSc.574G>C (p.Gly192Arg)
c.571G>C (p.Gly191Arg)
n.639G>C
c.562G>C (p.Gly188Arg)
n.679G>C
c.-7G>C (n.-7G>C)
c.568G>C (p.Gly190Arg)
c.565G>C (p.Gly189Arg)
16g.31184989G>TCA395669678FUSc.574G>T (p.Gly192Cys)
c.571G>T (p.Gly191Cys)
n.639G>T
c.562G>T (p.Gly188Cys)
n.679G>T
c.-7G>T (n.-7G>T)
c.568G>T (p.Gly190Cys)
c.565G>T (p.Gly189Cys)
16g.31184990G>ACA395669681FUSc.575G>A (p.Gly192Asp)
c.572G>A (p.Gly191Asp)
n.640G>A
c.563G>A (p.Gly188Asp)
n.680G>A
c.-6G>A (n.-6G>A)
c.569G>A (p.Gly190Asp)
c.566G>A (p.Gly189Asp)
gnomAD v4
16g.31184990G>CCA395669683FUSc.575G>C (p.Gly192Ala)
c.572G>C (p.Gly191Ala)
n.640G>C
c.563G>C (p.Gly188Ala)
n.680G>C
c.-6G>C (n.-6G>C)
c.569G>C (p.Gly190Ala)
c.566G>C (p.Gly189Ala)
16g.31184990G>TCA395669685FUSc.575G>T (p.Gly192Val)
c.572G>T (p.Gly191Val)
n.640G>T
c.563G>T (p.Gly188Val)
n.680G>T
c.-6G>T (n.-6G>T)
c.569G>T (p.Gly190Val)
c.566G>T (p.Gly189Val)
COSMIC COSMIC
16g.31184991C>ACA494928671FUSc.576C>A (p.Gly192=)
c.573C>A (p.Gly191=)
n.641C>A
c.564C>A (p.Gly188=)
n.681C>A
c.-5C>A (n.-5C>A)
c.570C>A (p.Gly190=)
c.567C>A (p.Gly189=)
16g.31184991C=CA2216944694FUSc.576C= (p.Gly192=)
c.573C= (p.Gly191=)
n.641C=
c.564C= (p.Gly188=)
n.681C=
c.-5C= (n.-5C=)
c.570C= (p.Gly190=)
c.567C= (p.Gly189=)
16g.31184991C>GCA494928672FUSc.576C>G (p.Gly192=)
c.573C>G (p.Gly191=)
n.641C>G
c.564C>G (p.Gly188=)
n.681C>G
c.-5C>G (n.-5C>G)
c.570C>G (p.Gly190=)
c.567C>G (p.Gly189=)
dbSNP
16g.31184991C>TCA8023713FUSc.576C>T (p.Gly192=)
c.573C>T (p.Gly191=)
n.641C>T
c.564C>T (p.Gly188=)
n.681C>T
c.-5C>T (n.-5C>T)
c.570C>T (p.Gly190=)
c.567C>T (p.Gly189=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31184992G>ACA395669688FUSc.577G>A (p.Gly193Ser)
c.574G>A (p.Gly192Ser)
n.642G>A
c.565G>A (p.Gly189Ser)
n.682G>A
c.-4G>A (n.-4G>A)
c.571G>A (p.Gly191Ser)
c.568G>A (p.Gly190Ser)
dbSNP gnomAD v4
16g.31184992G>CCA395669690FUSc.577G>C (p.Gly193Arg)
c.574G>C (p.Gly192Arg)
n.642G>C
c.565G>C (p.Gly189Arg)
n.682G>C
c.-4G>C (n.-4G>C)
c.571G>C (p.Gly191Arg)
c.568G>C (p.Gly190Arg)
16g.31184992G=CA2216944698FUSc.577G= (p.Gly193=)
c.574G= (p.Gly192=)
n.642G=
c.565G= (p.Gly189=)
n.682G=
c.-4G= (n.-4G=)
c.571G= (p.Gly191=)
c.568G= (p.Gly190=)
16g.31184992G>TCA395669691FUSc.577G>T (p.Gly193Cys)
c.574G>T (p.Gly192Cys)
n.642G>T
c.565G>T (p.Gly189Cys)
n.682G>T
c.-4G>T (n.-4G>T)
c.571G>T (p.Gly191Cys)
c.568G>T (p.Gly190Cys)
dbSNP gnomAD v2 gnomAD v4
16g.31184993G>ACA395669692FUSc.578G>A (p.Gly193Asp)
c.575G>A (p.Gly192Asp)
n.643G>A
c.566G>A (p.Gly189Asp)
n.683G>A
c.-3G>A (n.-3G>A)
c.572G>A (p.Gly191Asp)
c.569G>A (p.Gly190Asp)
16g.31184993G>CCA395669693FUSc.578G>C (p.Gly193Ala)
c.575G>C (p.Gly192Ala)
n.643G>C
c.566G>C (p.Gly189Ala)
n.683G>C
c.-3G>C (n.-3G>C)
c.572G>C (p.Gly191Ala)
c.569G>C (p.Gly190Ala)
16g.31184993G>TCA395669694FUSc.578G>T (p.Gly193Val)
c.575G>T (p.Gly192Val)
n.643G>T
c.566G>T (p.Gly189Val)
n.683G>T
c.-3G>T (n.-3G>T)
c.572G>T (p.Gly191Val)
c.569G>T (p.Gly190Val)
16g.31184993_31185036delCA2695223295FUSc.578_621del (p.Gly193ValfsTer?)
c.575_618del (p.Gly192ValfsTer?)
n.643_686del
c.566_609del (p.Gly189ValfsTer?)
n.683_726del
c.-3_41del
c.572_615del (p.Gly191ValfsTer?)
c.569_612del (p.Gly190ValfsTer?)
16g.31184994T>ACA494928679FUSc.579T>A (p.Gly193=)
c.576T>A (p.Gly192=)
n.644T>A
c.567T>A (p.Gly189=)
n.684T>A
c.-2T>A (n.-2T>A)
c.573T>A (p.Gly191=)
c.570T>A (p.Gly190=)
16g.31184994T>CCA494928680FUSc.579T>C (p.Gly193=)
c.576T>C (p.Gly192=)
n.644T>C
c.567T>C (p.Gly189=)
n.684T>C
c.-2T>C (n.-2T>C)
c.573T>C (p.Gly191=)
c.570T>C (p.Gly190=)
16g.31184994T>GCA494928681FUSc.579T>G (p.Gly193=)
c.576T>G (p.Gly192=)
n.644T>G
c.567T>G (p.Gly189=)
n.684T>G
c.-2T>G (n.-2T>G)
c.573T>G (p.Gly191=)
c.570T>G (p.Gly190=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.31184994T=CA2216944700FUSc.579T= (p.Gly193=)
c.576T= (p.Gly192=)
n.644T=
c.567T= (p.Gly189=)
n.684T=
c.-2T= (n.-2T=)
c.573T= (p.Gly191=)
c.570T= (p.Gly190=)
16g.31184995T>ACA395669699FUSc.580T>A (p.Tyr194Asn)
c.577T>A (p.Tyr193Asn)
n.645T>A
c.568T>A (p.Tyr190Asn)
n.685T>A
c.-1T>A (n.-1T>A)
c.574T>A (p.Tyr192Asn)
c.571T>A (p.Tyr191Asn)
16g.31184995T>CCA395669697FUSc.580T>C (p.Tyr194His)
c.577T>C (p.Tyr193His)
n.645T>C
c.568T>C (p.Tyr190His)
n.685T>C
c.-1T>C (n.-1T>C)
c.574T>C (p.Tyr192His)
c.571T>C (p.Tyr191His)
16g.31184995T>GCA395669695FUSc.580T>G (p.Tyr194Asp)
c.577T>G (p.Tyr193Asp)
n.645T>G
c.568T>G (p.Tyr190Asp)
n.685T>G
c.-1T>G (n.-1T>G)
c.574T>G (p.Tyr192Asp)
c.571T>G (p.Tyr191Asp)
16g.31184996A>CCA395669700FUSc.581A>C (p.Tyr194Ser)
c.578A>C (p.Tyr193Ser)
n.646A>C
c.569A>C (p.Tyr190Ser)
n.686A>C
c.1A>C (p.Met1Leu)
c.575A>C (p.Tyr192Ser)
c.572A>C (p.Tyr191Ser)
16g.31184996A>GCA395669701FUSc.581A>G (p.Tyr194Cys)
c.578A>G (p.Tyr193Cys)
n.646A>G
c.569A>G (p.Tyr190Cys)
n.686A>G
c.1A>G (p.Met1Val)
c.575A>G (p.Tyr192Cys)
c.572A>G (p.Tyr191Cys)
16g.31184996A>TCA395669703FUSc.581A>T (p.Tyr194Phe)
c.578A>T (p.Tyr193Phe)
n.646A>T
c.569A>T (p.Tyr190Phe)
n.686A>T
c.1A>T (p.Met1Leu)
c.575A>T (p.Tyr192Phe)
c.572A>T (p.Tyr191Phe)
16g.31184997T>ACA395669705FUSc.582T>A (p.Tyr194Ter)
c.579T>A (p.Tyr193Ter)
n.647T>A
c.570T>A (p.Tyr190Ter)
n.687T>A
c.2T>A (p.Met1Lys)
c.576T>A (p.Tyr192Ter)
c.573T>A (p.Tyr191Ter)
16g.31184997T>CCA8023714FUSc.582T>C (p.Tyr194=)
c.579T>C (p.Tyr193=)
n.647T>C
c.570T>C (p.Tyr190=)
n.687T>C
c.2T>C (p.Met1Thr)
c.576T>C (p.Tyr192=)
c.573T>C (p.Tyr191=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.31184997T>GCA395669707FUSc.582T>G (p.Tyr194Ter)
c.579T>G (p.Tyr193Ter)
n.647T>G
c.570T>G (p.Tyr190Ter)
n.687T>G
c.2T>G (p.Met1Arg)
c.576T>G (p.Tyr192Ter)
c.573T>G (p.Tyr191Ter)
16g.31184997T=CA2216944707FUSc.582T= (p.Tyr194=)
c.579T= (p.Tyr193=)
n.647T=
c.570T= (p.Tyr190=)
n.687T=
c.2T= (p.Met1=)
c.576T= (p.Tyr192=)
c.573T= (p.Tyr191=)
16g.31184998G>ACA395669709FUSc.583G>A (p.Gly195Ser)
c.580G>A (p.Gly194Ser)
n.648G>A
c.571G>A (p.Gly191Ser)
n.688G>A
c.3G>A (p.Met1Ile)
c.577G>A (p.Gly193Ser)
c.574G>A (p.Gly192Ser)
dbSNP
16g.31184998G>CCA395669711FUSc.583G>C (p.Gly195Arg)
c.580G>C (p.Gly194Arg)
n.648G>C
c.571G>C (p.Gly191Arg)
n.688G>C
c.3G>C (p.Met1Ile)
c.577G>C (p.Gly193Arg)
c.574G>C (p.Gly192Arg)
16g.31184998G=CA2216944709FUSc.583G= (p.Gly195=)
c.580G= (p.Gly194=)
n.648G=
c.571G= (p.Gly191=)
n.688G=
c.3G= (p.Met1=)
c.577G= (p.Gly193=)
c.574G= (p.Gly192=)
16g.31184998G>TCA395669713FUSc.583G>T (p.Gly195Cys)
c.580G>T (p.Gly194Cys)
n.648G>T
c.571G>T (p.Gly191Cys)
n.688G>T
c.3G>T (p.Met1Ile)
c.577G>T (p.Gly193Cys)
c.574G>T (p.Gly192Cys)
16g.31184999G>ACA395669714FUSc.584G>A (p.Gly195Asp)
c.581G>A (p.Gly194Asp)
n.649G>A
c.572G>A (p.Gly191Asp)
n.689G>A
c.4G>A (p.Ala2Thr)
c.578G>A (p.Gly193Asp)
c.575G>A (p.Gly192Asp)
16g.31184999G>CCA395669715FUSc.584G>C (p.Gly195Ala)
c.581G>C (p.Gly194Ala)
n.649G>C
c.572G>C (p.Gly191Ala)
n.689G>C
c.4G>C (p.Ala2Pro)
c.578G>C (p.Gly193Ala)
c.575G>C (p.Gly192Ala)
16g.31184999G>TCA395669717FUSc.584G>T (p.Gly195Val)
c.581G>T (p.Gly194Val)
n.649G>T
c.572G>T (p.Gly191Val)
n.689G>T
c.4G>T (p.Ala2Ser)
c.578G>T (p.Gly193Val)
c.575G>T (p.Gly192Val)
16g.31185000C>ACA494928687FUSc.585C>A (p.Gly195=)
c.582C>A (p.Gly194=)
n.650C>A
c.573C>A (p.Gly191=)
n.690C>A
c.5C>A (p.Ala2Glu)
c.579C>A (p.Gly193=)
c.576C>A (p.Gly192=)
16g.31185000C=CA2216944712FUSc.585C= (p.Gly195=)
c.582C= (p.Gly194=)
n.650C=
c.573C= (p.Gly191=)
n.690C=
c.5C= (p.Ala2=)
c.579C= (p.Gly193=)
c.576C= (p.Gly192=)
16g.31185000C>GCA494928688FUSc.585C>G (p.Gly195=)
c.582C>G (p.Gly194=)
n.650C>G
c.573C>G (p.Gly191=)
n.690C>G
c.5C>G (p.Ala2Gly)
c.579C>G (p.Gly193=)
c.576C>G (p.Gly192=)
16g.31185000C>TCA494928690FUSc.585C>T (p.Gly195=)
c.582C>T (p.Gly194=)
n.650C>T
c.573C>T (p.Gly191=)
n.690C>T
c.5C>T (p.Ala2Val)
c.579C>T (p.Gly193=)
c.576C>T (p.Gly192=)
dbSNP gnomAD v4
16g.31185001A>CCA395669723FUSc.586A>C (p.Asn196His)
c.583A>C (p.Asn195His)
n.651A>C
c.574A>C (p.Asn192His)
n.691A>C
c.6A>C (p.Ala2=)
c.580A>C (p.Asn194His)
c.577A>C (p.Asn193His)
16g.31185001A>GCA395669721FUSc.586A>G (p.Asn196Asp)
c.583A>G (p.Asn195Asp)
n.651A>G
c.574A>G (p.Asn192Asp)
n.691A>G
c.6A>G (p.Ala2=)
c.580A>G (p.Asn194Asp)
c.577A>G (p.Asn193Asp)
gnomAD v4
16g.31185001A>TCA395669720FUSc.586A>T (p.Asn196Tyr)
c.583A>T (p.Asn195Tyr)
n.651A>T
c.574A>T (p.Asn192Tyr)
n.691A>T
c.6A>T (p.Ala2=)
c.580A>T (p.Asn194Tyr)
c.577A>T (p.Asn193Tyr)
16g.31185002A=CA2216944716FUSc.587A= (p.Asn196=)
c.584A= (p.Asn195=)
n.652A=
c.575A= (p.Asn192=)
n.692A=
c.7A= (p.Ile3=)
c.581A= (p.Asn194=)
c.578A= (p.Asn193=)
16g.31185002A>CCA395669727FUSc.587A>C (p.Asn196Thr)
c.584A>C (p.Asn195Thr)
n.652A>C
c.575A>C (p.Asn192Thr)
n.692A>C
c.7A>C (p.Ile3Leu)
c.581A>C (p.Asn194Thr)
c.578A>C (p.Asn193Thr)
dbSNP gnomAD v3 gnomAD v4
16g.31185002A>GCA8023715FUSc.587A>G (p.Asn196Ser)
c.584A>G (p.Asn195Ser)
n.652A>G
c.575A>G (p.Asn192Ser)
n.692A>G
c.7A>G (p.Ile3Val)
c.581A>G (p.Asn194Ser)
c.578A>G (p.Asn193Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.31185002A>TCA395669725FUSc.587A>T (p.Asn196Ile)
c.584A>T (p.Asn195Ile)
n.652A>T
c.575A>T (p.Asn192Ile)
n.692A>T
c.7A>T (p.Ile3Phe)
c.581A>T (p.Asn194Ile)
c.578A>T (p.Asn193Ile)
16g.31185003T>ACA395669729FUSc.588T>A (p.Asn196Lys)
c.585T>A (p.Asn195Lys)
n.653T>A
c.576T>A (p.Asn192Lys)
n.693T>A
c.8T>A (p.Ile3Asn)
c.582T>A (p.Asn194Lys)
c.579T>A (p.Asn193Lys)
16g.31185003T>CCA494928694FUSc.588T>C (p.Asn196=)
c.585T>C (p.Asn195=)
n.653T>C
c.576T>C (p.Asn192=)
n.693T>C
c.8T>C (p.Ile3Thr)
c.582T>C (p.Asn194=)
c.579T>C (p.Asn193=)
16g.31185003T>GCA395669731FUSc.588T>G (p.Asn196Lys)
c.585T>G (p.Asn195Lys)
n.653T>G
c.576T>G (p.Asn192Lys)
n.693T>G
c.8T>G (p.Ile3Ser)
c.582T>G (p.Asn194Lys)
c.579T>G (p.Asn193Lys)
16g.31185004C>ACA395669732FUSc.589C>A (p.Gln197Lys)
c.586C>A (p.Gln196Lys)
n.654C>A
c.577C>A (p.Gln193Lys)
n.694C>A
c.9C>A (p.Ile3=)
c.583C>A (p.Gln195Lys)
c.580C>A (p.Gln194Lys)
16g.31185004C=CA2216944722FUSc.589C= (p.Gln197=)
c.586C= (p.Gln196=)
n.654C=
c.577C= (p.Gln193=)
n.694C=
c.9C= (p.Ile3=)
c.583C= (p.Gln195=)
c.580C= (p.Gln194=)
16g.31185004C>GCA395669733FUSc.589C>G (p.Gln197Glu)
c.586C>G (p.Gln196Glu)
n.654C>G
c.577C>G (p.Gln193Glu)
n.694C>G
c.9C>G (p.Ile3Met)
c.583C>G (p.Gln195Glu)
c.580C>G (p.Gln194Glu)
dbSNP gnomAD v3 gnomAD v4
16g.31185004C>TCA395669735FUSc.589C>T (p.Gln197Ter)
c.586C>T (p.Gln196Ter)
n.654C>T
c.577C>T (p.Gln193Ter)
n.694C>T
c.9C>T (p.Ile3=)
c.583C>T (p.Gln195Ter)
c.580C>T (p.Gln194Ter)
16g.31185005A>CCA395669737FUSc.590A>C (p.Gln197Pro)
c.587A>C (p.Gln196Pro)
n.655A>C
c.578A>C (p.Gln193Pro)
n.695A>C
c.10A>C (p.Lys4Gln)
c.584A>C (p.Gln195Pro)
c.581A>C (p.Gln194Pro)
16g.31185005A>GCA395669738FUSc.590A>G (p.Gln197Arg)
c.587A>G (p.Gln196Arg)
n.655A>G
c.578A>G (p.Gln193Arg)
n.695A>G
c.10A>G (p.Lys4Glu)
c.584A>G (p.Gln195Arg)
c.581A>G (p.Gln194Arg)
16g.31185005A>TCA395669740FUSc.590A>T (p.Gln197Leu)
c.587A>T (p.Gln196Leu)
n.655A>T
c.578A>T (p.Gln193Leu)
n.695A>T
c.10A>T (p.Lys4Ter)
c.584A>T (p.Gln195Leu)
c.581A>T (p.Gln194Leu)
16g.31185006A=CA2216944725FUSc.591A= (p.Gln197=)
c.588A= (p.Gln196=)
n.656A=
c.579A= (p.Gln193=)
n.696A=
c.11A= (p.Lys4=)
c.585A= (p.Gln195=)
c.582A= (p.Gln194=)
16g.31185006A>CCA395669742FUSc.591A>C (p.Gln197His)
c.588A>C (p.Gln196His)
n.656A>C
c.579A>C (p.Gln193His)
n.696A>C
c.11A>C (p.Lys4Thr)
c.585A>C (p.Gln195His)
c.582A>C (p.Gln194His)
16g.31185006A>GCA494928699FUSc.591A>G (p.Gln197=)
c.588A>G (p.Gln196=)
n.656A>G
c.579A>G (p.Gln193=)
n.696A>G
c.11A>G (p.Lys4Arg)
c.585A>G (p.Gln195=)
c.582A>G (p.Gln194=)
dbSNP
16g.31185006A>TCA395669744FUSc.591A>T (p.Gln197His)
c.588A>T (p.Gln196His)
n.656A>T
c.579A>T (p.Gln193His)
n.696A>T
c.11A>T (p.Lys4Met)
c.585A>T (p.Gln195His)
c.582A>T (p.Gln194His)
16g.31185007G>ACA395669752FUSc.592G>A (p.Asp198Asn)
c.589G>A (p.Asp197Asn)
n.657G>A
c.580G>A (p.Asp194Asn)
n.697G>A
c.12G>A (p.Lys4=)
c.586G>A (p.Asp196Asn)
c.583G>A (p.Asp195Asn)
16g.31185007G>CCA395669750FUSc.592G>C (p.Asp198His)
c.589G>C (p.Asp197His)
n.657G>C
c.580G>C (p.Asp194His)
n.697G>C
c.12G>C (p.Lys4Asn)
c.586G>C (p.Asp196His)
c.583G>C (p.Asp195His)
16g.31185007G>TCA395669748FUSc.592G>T (p.Asp198Tyr)
c.589G>T (p.Asp197Tyr)
n.657G>T
c.580G>T (p.Asp194Tyr)
n.697G>T
c.12G>T (p.Lys4Asn)
c.586G>T (p.Asp196Tyr)
c.583G>T (p.Asp195Tyr)
COSMIC COSMIC
16g.31185008A>CCA395669755FUSc.593A>C (p.Asp198Ala)
c.590A>C (p.Asp197Ala)
n.658A>C
c.581A>C (p.Asp194Ala)
n.698A>C
c.13A>C (p.Thr5Pro)
c.587A>C (p.Asp196Ala)
c.584A>C (p.Asp195Ala)
16g.31185008A>GCA395669757FUSc.593A>G (p.Asp198Gly)
c.590A>G (p.Asp197Gly)
n.658A>G
c.581A>G (p.Asp194Gly)
n.698A>G
c.13A>G (p.Thr5Ala)
c.587A>G (p.Asp196Gly)
c.584A>G (p.Asp195Gly)
16g.31185008A>TCA395669759FUSc.593A>T (p.Asp198Val)
c.590A>T (p.Asp197Val)
n.658A>T
c.581A>T (p.Asp194Val)
n.698A>T
c.13A>T (p.Thr5Ser)
c.587A>T (p.Asp196Val)
c.584A>T (p.Asp195Val)
16g.31185009C>ACA395669761FUSc.594C>A (p.Asp198Glu)
c.591C>A (p.Asp197Glu)
n.659C>A
c.582C>A (p.Asp194Glu)
n.699C>A
c.14C>A (p.Thr5Asn)
c.588C>A (p.Asp196Glu)
c.585C>A (p.Asp195Glu)
16g.31185009C=CA2216944727FUSc.594C= (p.Asp198=)
c.591C= (p.Asp197=)
n.659C=
c.582C= (p.Asp194=)
n.699C=
c.14C= (p.Thr5=)
c.588C= (p.Asp196=)
c.585C= (p.Asp195=)
16g.31185009C>GCA395669762FUSc.594C>G (p.Asp198Glu)
c.591C>G (p.Asp197Glu)
n.659C>G
c.582C>G (p.Asp194Glu)
n.699C>G
c.14C>G (p.Thr5Ser)
c.588C>G (p.Asp196Glu)
c.585C>G (p.Asp195Glu)
gnomAD v4
16g.31185009C>TCA494928705FUSc.594C>T (p.Asp198=)
c.591C>T (p.Asp197=)
n.659C>T
c.582C>T (p.Asp194=)
n.699C>T
c.14C>T (p.Thr5Ile)
c.588C>T (p.Asp196=)
c.585C>T (p.Asp195=)
dbSNP gnomAD v3 gnomAD v4
16g.31185010C>ACA395669765FUSc.595C>A (p.Gln199Lys)
c.592C>A (p.Gln198Lys)
n.660C>A
c.583C>A (p.Gln195Lys)
n.700C>A
c.15C>A (p.Thr5=)
c.589C>A (p.Gln197Lys)
c.586C>A (p.Gln196Lys)
16g.31185010C=CA2216944733FUSc.595C= (p.Gln199=)
c.592C= (p.Gln198=)
n.660C=
c.583C= (p.Gln195=)
n.700C=
c.15C= (p.Thr5=)
c.589C= (p.Gln197=)
c.586C= (p.Gln196=)
16g.31185010C>GCA395669766FUSc.595C>G (p.Gln199Glu)
c.592C>G (p.Gln198Glu)
n.660C>G
c.583C>G (p.Gln195Glu)
n.700C>G
c.15C>G (p.Thr5=)
c.589C>G (p.Gln197Glu)
c.586C>G (p.Gln196Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31185010C>TCA395669769FUSc.595C>T (p.Gln199Ter)
c.592C>T (p.Gln198Ter)
n.660C>T
c.583C>T (p.Gln195Ter)
n.700C>T
c.15C>T (p.Thr5=)
c.589C>T (p.Gln197Ter)
c.586C>T (p.Gln196Ter)
16g.31185011A>CCA395669772FUSc.596A>C (p.Gln199Pro)
c.593A>C (p.Gln198Pro)
n.661A>C
c.584A>C (p.Gln195Pro)
n.701A>C
c.16A>C (p.Arg6=)
c.590A>C (p.Gln197Pro)
c.587A>C (p.Gln196Pro)
16g.31185011A>GCA395669774FUSc.596A>G (p.Gln199Arg)
c.593A>G (p.Gln198Arg)
n.661A>G
c.584A>G (p.Gln195Arg)
n.701A>G
c.16A>G (p.Arg6Gly)
c.590A>G (p.Gln197Arg)
c.587A>G (p.Gln196Arg)
16g.31185011A>TCA395669777FUSc.596A>T (p.Gln199Leu)
c.593A>T (p.Gln198Leu)
n.661A>T
c.584A>T (p.Gln195Leu)
n.701A>T
c.16A>T (p.Arg6Ter)
c.590A>T (p.Gln197Leu)
c.587A>T (p.Gln196Leu)
16g.31185012G>ACA494928709FUSc.597G>A (p.Gln199=)
c.594G>A (p.Gln198=)
n.662G>A
c.585G>A (p.Gln195=)
n.702G>A
c.17G>A (p.Arg6Lys)
c.591G>A (p.Gln197=)
c.588G>A (p.Gln196=)
gnomAD v4
16g.31185012G>CCA8023716FUSc.597G>C (p.Gln199His)
c.594G>C (p.Gln198His)
n.662G>C
c.585G>C (p.Gln195His)
n.702G>C
c.17G>C (p.Arg6Thr)
c.591G>C (p.Gln197His)
c.588G>C (p.Gln196His)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.31185012G=CA2216944736FUSc.597G= (p.Gln199=)
c.594G= (p.Gln198=)
n.662G=
c.585G= (p.Gln195=)
n.702G=
c.17G= (p.Arg6=)
c.591G= (p.Gln197=)
c.588G= (p.Gln196=)
16g.31185012G>TCA395669779FUSc.597G>T (p.Gln199His)
c.594G>T (p.Gln198His)
n.662G>T
c.585G>T (p.Gln195His)
n.702G>T
c.17G>T (p.Arg6Ile)
c.591G>T (p.Gln197His)
c.588G>T (p.Gln196His)
16g.31185013A>CCA395669784FUSc.598A>C (p.Ser200Arg)
c.595A>C (p.Ser199Arg)
n.663A>C
c.586A>C (p.Ser196Arg)
n.703A>C
c.18A>C (p.Arg6Ser)
c.592A>C (p.Ser198Arg)
c.589A>C (p.Ser197Arg)
16g.31185013A>GCA395669786FUSc.598A>G (p.Ser200Gly)
c.595A>G (p.Ser199Gly)
n.663A>G
c.586A>G (p.Ser196Gly)
n.703A>G
c.18A>G (p.Arg6=)
c.592A>G (p.Ser198Gly)
c.589A>G (p.Ser197Gly)
16g.31185013A>TCA395669781FUSc.598A>T (p.Ser200Cys)
c.595A>T (p.Ser199Cys)
n.663A>T
c.586A>T (p.Ser196Cys)
n.703A>T
c.18A>T (p.Arg6Ser)
c.592A>T (p.Ser198Cys)
c.589A>T (p.Ser197Cys)
16g.31185013_31185016delinsAGTGCA2216944739FUSc.598_601delinsAGTG (p.Ser200=)
c.595_598delinsAGTG (p.Ser199=)
n.663_666delinsAGTG
c.586_589delinsAGTG (p.Ser196=)
n.703_706delinsAGTG
c.18_21delinsAGTG (p.Arg6=)
c.592_595delinsAGTG (p.Ser198=)
c.589_592delinsAGTG (p.Ser197=)
16g.31185014G>ACA395669787FUSc.599G>A (p.Ser200Asn)
c.596G>A (p.Ser199Asn)
n.664G>A
c.587G>A (p.Ser196Asn)
n.704G>A
c.19G>A (p.Val7Met)
c.593G>A (p.Ser198Asn)
c.590G>A (p.Ser197Asn)
dbSNP gnomAD v3 gnomAD v4
16g.31185014G>CCA395669789FUSc.599G>C (p.Ser200Thr)
c.596G>C (p.Ser199Thr)
n.664G>C
c.587G>C (p.Ser196Thr)
n.704G>C
c.19G>C (p.Val7Leu)
c.593G>C (p.Ser198Thr)
c.590G>C (p.Ser197Thr)
16g.31185014G=CA2216944742FUSc.599G= (p.Ser200=)
c.596G= (p.Ser199=)
n.664G=
c.587G= (p.Ser196=)
n.704G=
c.19G= (p.Val7=)
c.593G= (p.Ser198=)
c.590G= (p.Ser197=)
16g.31185014G>TCA395669788FUSc.599G>T (p.Ser200Ile)
c.596G>T (p.Ser199Ile)
n.664G>T
c.587G>T (p.Ser196Ile)
n.704G>T
c.19G>T (p.Val7Leu)
c.593G>T (p.Ser198Ile)
c.590G>T (p.Ser197Ile)
16g.31185018_31185020delCA622172601FUSc.603_605del (p.Gly202del)
c.600_602del (p.Gly201del)
n.668_670del
c.591_593del (p.Gly198del)
n.708_710del
c.23_25del (p.Val8del)
c.597_599del (p.Gly200del)
c.594_596del (p.Gly199del)
dbSNP gnomAD v2 gnomAD v4
16g.31185015T>ACA395669790FUSc.600T>A (p.Ser200Arg)
c.597T>A (p.Ser199Arg)
n.665T>A
c.588T>A (p.Ser196Arg)
n.705T>A
c.20T>A (p.Val7Glu)
c.594T>A (p.Ser198Arg)
c.591T>A (p.Ser197Arg)
16g.31185015T>CCA494928716FUSc.600T>C (p.Ser200=)
c.597T>C (p.Ser199=)
n.665T>C
c.588T>C (p.Ser196=)
n.705T>C
c.20T>C (p.Val7Ala)
c.594T>C (p.Ser198=)
c.591T>C (p.Ser197=)
gnomAD v4
16g.31185015T>GCA395669791FUSc.600T>G (p.Ser200Arg)
c.597T>G (p.Ser199Arg)
n.665T>G
c.588T>G (p.Ser196Arg)
n.705T>G
c.20T>G (p.Val7Gly)
c.594T>G (p.Ser198Arg)
c.591T>G (p.Ser197Arg)
gnomAD v3 gnomAD v4
16g.31185016G>ACA395669793FUSc.601G>A (p.Gly201Ser)
c.598G>A (p.Gly200Ser)
n.666G>A
c.589G>A (p.Gly197Ser)
n.706G>A
c.21G>A (p.Val7=)
c.595G>A (p.Gly199Ser)
c.592G>A (p.Gly198Ser)
16g.31185016G>CCA395669794FUSc.601G>C (p.Gly201Arg)
c.598G>C (p.Gly200Arg)
n.666G>C
c.589G>C (p.Gly197Arg)
n.706G>C
c.21G>C (p.Val7=)
c.595G>C (p.Gly199Arg)
c.592G>C (p.Gly198Arg)
16g.31185016G>TCA395669795FUSc.601G>T (p.Gly201Cys)
c.598G>T (p.Gly200Cys)
n.666G>T
c.589G>T (p.Gly197Cys)
n.706G>T
c.21G>T (p.Val7=)
c.595G>T (p.Gly199Cys)
c.592G>T (p.Gly198Cys)
16g.31185016_31185052delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACCCA2216944745FUSc.601_637delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Gly201=)
c.598_634delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Gly200=)
n.666_702delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC
c.589_625delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Gly197=)
n.706_742delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC
c.21_57delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Val7=)
c.595_631delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Gly199=)
c.592_628delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Gly198=)
16g.31185017G>ACA395669798FUSc.602G>A (p.Gly201Asp)
c.599G>A (p.Gly200Asp)
n.667G>A
c.590G>A (p.Gly197Asp)
n.707G>A
c.22G>A (p.Val8Met)
c.596G>A (p.Gly199Asp)
c.593G>A (p.Gly198Asp)
dbSNP gnomAD v3 gnomAD v4
16g.31185017G>CCA395669801FUSc.602G>C (p.Gly201Ala)
c.599G>C (p.Gly200Ala)
n.667G>C
c.590G>C (p.Gly197Ala)
n.707G>C
c.22G>C (p.Val8Leu)
c.596G>C (p.Gly199Ala)
c.593G>C (p.Gly198Ala)
16g.31185017G=CA2216944754FUSc.602G= (p.Gly201=)
c.599G= (p.Gly200=)
n.667G=
c.590G= (p.Gly197=)
n.707G=
c.22G= (p.Val8=)
c.596G= (p.Gly199=)
c.593G= (p.Gly198=)
16g.31185017G>TCA8023717FUSc.602G>T (p.Gly201Val)
c.599G>T (p.Gly200Val)
n.667G>T
c.590G>T (p.Gly197Val)
n.707G>T
c.22G>T (p.Val8Leu)
c.596G>T (p.Gly199Val)
c.593G>T (p.Gly198Val)
dbSNP ExAC gnomAD v3 gnomAD v4
16g.31185024_31185059delCA2216944752FUSc.609_644del (p.Gly204_Gly215del)
c.606_641del (p.Gly203_Gly214del)
n.674_709del
c.597_632del (p.Gly200_Gly211del)
n.714_749del
c.29_64del (p.Val10_Glu21del)
c.603_638del (p.Gly202_Gly213del)
c.600_635del (p.Gly201_Gly212del)
dbSNP
16g.31185018T>ACA494928721FUSc.603T>A (p.Gly201=)
c.600T>A (p.Gly200=)
n.668T>A
c.591T>A (p.Gly197=)
n.708T>A
c.23T>A (p.Val8Glu)
c.597T>A (p.Gly199=)
c.594T>A (p.Gly198=)
16g.31185018T>CCA494928723FUSc.603T>C (p.Gly201=)
c.600T>C (p.Gly200=)
n.668T>C
c.591T>C (p.Gly197=)
n.708T>C
c.23T>C (p.Val8Ala)
c.597T>C (p.Gly199=)
c.594T>C (p.Gly198=)
16g.31185018T>GCA494928722FUSc.603T>G (p.Gly201=)
c.600T>G (p.Gly200=)
n.668T>G
c.591T>G (p.Gly197=)
n.708T>G
c.23T>G (p.Val8Gly)
c.597T>G (p.Gly199=)
c.594T>G (p.Gly198=)
16g.31185019G>ACA280594716FUSc.604G>A (p.Gly202Arg)
c.601G>A (p.Gly201Arg)
n.669G>A
c.592G>A (p.Gly198Arg)
n.709G>A
c.24G>A (p.Val8=)
c.598G>A (p.Gly200Arg)
c.595G>A (p.Gly199Arg)
dbSNP gnomAD v4
16g.31185019G>CCA395669806FUSc.604G>C (p.Gly202Arg)
c.601G>C (p.Gly201Arg)
n.669G>C
c.592G>C (p.Gly198Arg)
n.709G>C
c.24G>C (p.Val8=)
c.598G>C (p.Gly200Arg)
c.595G>C (p.Gly199Arg)
16g.31185019G=CA2216944762FUSc.604G= (p.Gly202=)
c.601G= (p.Gly201=)
n.669G=
c.592G= (p.Gly198=)
n.709G=
c.24G= (p.Val8=)
c.598G= (p.Gly200=)
c.595G= (p.Gly199=)
16g.31185019G>TCA395669808FUSc.604G>T (p.Gly202Ter)
c.601G>T (p.Gly201Ter)
n.669G>T
c.592G>T (p.Gly198Ter)
n.709G>T
c.24G>T (p.Val8=)
c.598G>T (p.Gly200Ter)
c.595G>T (p.Gly199Ter)
16g.31185020G>ACA395669814FUSc.605G>A (p.Gly202Glu)
c.602G>A (p.Gly201Glu)
n.670G>A
c.593G>A (p.Gly198Glu)
n.710G>A
c.25G>A (p.Glu9Lys)
c.599G>A (p.Gly200Glu)
c.596G>A (p.Gly199Glu)
16g.31185020G>CCA395669812FUSc.605G>C (p.Gly202Ala)
c.602G>C (p.Gly201Ala)
n.670G>C
c.593G>C (p.Gly198Ala)
n.710G>C
c.25G>C (p.Glu9Gln)
c.599G>C (p.Gly200Ala)
c.596G>C (p.Gly199Ala)
gnomAD v4
16g.31185020G>TCA395669811FUSc.605G>T (p.Gly202Val)
c.602G>T (p.Gly201Val)
n.670G>T
c.593G>T (p.Gly198Val)
n.710G>T
c.25G>T (p.Glu9Ter)
c.599G>T (p.Gly200Val)
c.596G>T (p.Gly199Val)
16g.31185021A=CA2216944768FUSc.606A= (p.Gly202=)
c.603A= (p.Gly201=)
n.671A=
c.594A= (p.Gly198=)
n.711A=
c.26A= (p.Glu9=)
c.600A= (p.Gly200=)
c.597A= (p.Gly199=)
16g.31185021A>CCA494928726FUSc.606A>C (p.Gly202=)
c.603A>C (p.Gly201=)
n.671A>C
c.594A>C (p.Gly198=)
n.711A>C
c.26A>C (p.Glu9Ala)
c.600A>C (p.Gly200=)
c.597A>C (p.Gly199=)
16g.31185021A>GCA494928727FUSc.606A>G (p.Gly202=)
c.603A>G (p.Gly201=)
n.671A>G
c.594A>G (p.Gly198=)
n.711A>G
c.26A>G (p.Glu9Gly)
c.600A>G (p.Gly200=)
c.597A>G (p.Gly199=)
16g.31185021A>TCA280594719FUSc.606A>T (p.Gly202=)
c.603A>T (p.Gly201=)
n.671A>T
c.594A>T (p.Gly198=)
n.711A>T
c.26A>T (p.Glu9Val)
c.600A>T (p.Gly200=)
c.597A>T (p.Gly199=)
dbSNP
16g.31185022G>ACA395669821FUSc.607G>A (p.Gly203Ser)
c.604G>A (p.Gly202Ser)
n.672G>A
c.595G>A (p.Gly199Ser)
n.712G>A
c.27G>A (p.Glu9=)
c.601G>A (p.Gly201Ser)
c.598G>A (p.Gly200Ser)
16g.31185022G>CCA395669822FUSc.607G>C (p.Gly203Arg)
c.604G>C (p.Gly202Arg)
n.672G>C
c.595G>C (p.Gly199Arg)
n.712G>C
c.27G>C (p.Glu9Asp)
c.601G>C (p.Gly201Arg)
c.598G>C (p.Gly200Arg)
16g.31185022G>TCA395669824FUSc.607G>T (p.Gly203Cys)
c.604G>T (p.Gly202Cys)
n.672G>T
c.595G>T (p.Gly199Cys)
n.712G>T
c.27G>T (p.Glu9Asp)
c.601G>T (p.Gly201Cys)
c.598G>T (p.Gly200Cys)
16g.31185028_31185036delCA2580091516FUSc.613_621del (p.Ser205_Gly207del)
c.610_618del (p.Ser204_Gly206del)
n.678_686del
c.601_609del (p.Ser201_Gly203del)
n.718_726del
c.33_41del (p.Ala12_Ala14del)
c.607_615del (p.Ser203_Gly205del)
c.604_612del (p.Ser202_Gly204del)
ClinVar
16g.31185023G>ACA395669827FUSc.608G>A (p.Gly203Asp)
c.605G>A (p.Gly202Asp)
n.673G>A
c.596G>A (p.Gly199Asp)
n.713G>A
c.28G>A (p.Val10Met)
c.602G>A (p.Gly201Asp)
c.599G>A (p.Gly200Asp)
ClinVar dbSNP gnomAD v4
16g.31185023G>CCA395669828FUSc.608G>C (p.Gly203Ala)
c.605G>C (p.Gly202Ala)
n.673G>C
c.596G>C (p.Gly199Ala)
n.713G>C
c.28G>C (p.Val10Leu)
c.602G>C (p.Gly201Ala)
c.599G>C (p.Gly200Ala)
16g.31185023G=CA2216944771FUSc.608G= (p.Gly203=)
c.605G= (p.Gly202=)
n.673G=
c.596G= (p.Gly199=)
n.713G=
c.28G= (p.Val10=)
c.602G= (p.Gly201=)
c.599G= (p.Gly200=)
16g.31185023G>TCA395669830FUSc.608G>T (p.Gly203Val)
c.605G>T (p.Gly202Val)
n.673G>T
c.596G>T (p.Gly199Val)
n.713G>T
c.28G>T (p.Val10Leu)
c.602G>T (p.Gly201Val)
c.599G>T (p.Gly200Val)
16g.31185024T>ACA494928730FUSc.609T>A (p.Gly203=)
c.606T>A (p.Gly202=)
n.674T>A
c.597T>A (p.Gly199=)
n.714T>A
c.29T>A (p.Val10Glu)
c.603T>A (p.Gly201=)
c.600T>A (p.Gly200=)
16g.31185024T>CCA494928731FUSc.609T>C (p.Gly203=)
c.606T>C (p.Gly202=)
n.674T>C
c.597T>C (p.Gly199=)
n.714T>C
c.29T>C (p.Val10Ala)
c.603T>C (p.Gly201=)
c.600T>C (p.Gly200=)
16g.31185024T>GCA494928732FUSc.609T>G (p.Gly203=)
c.606T>G (p.Gly202=)
n.674T>G
c.597T>G (p.Gly199=)
n.714T>G
c.29T>G (p.Val10Gly)
c.603T>G (p.Gly201=)
c.600T>G (p.Gly200=)
dbSNP
16g.31185024T=CA2216944777FUSc.609T= (p.Gly203=)
c.606T= (p.Gly202=)
n.674T=
c.597T= (p.Gly199=)
n.714T=
c.29T= (p.Val10=)
c.603T= (p.Gly201=)
c.600T= (p.Gly200=)
16g.31185025G>ACA395669832FUSc.610G>A (p.Gly204Ser)
c.607G>A (p.Gly203Ser)
n.675G>A
c.598G>A (p.Gly200Ser)
n.715G>A
c.30G>A (p.Val10=)
c.604G>A (p.Gly202Ser)
c.601G>A (p.Gly201Ser)
gnomAD v4
16g.31185025G>CCA395669834FUSc.610G>C (p.Gly204Arg)
c.607G>C (p.Gly203Arg)
n.675G>C
c.598G>C (p.Gly200Arg)
n.715G>C
c.30G>C (p.Val10=)
c.604G>C (p.Gly202Arg)
c.601G>C (p.Gly201Arg)
16g.31185025G>TCA395669837FUSc.610G>T (p.Gly204Cys)
c.607G>T (p.Gly203Cys)
n.675G>T
c.598G>T (p.Gly200Cys)
n.715G>T
c.30G>T (p.Val10=)
c.604G>T (p.Gly202Cys)
c.601G>T (p.Gly201Cys)
16g.31185026G>ACA395669840FUSc.611G>A (p.Gly204Asp)
c.608G>A (p.Gly203Asp)
n.676G>A
c.599G>A (p.Gly200Asp)
n.716G>A
c.31G>A (p.Ala11Thr)
c.605G>A (p.Gly202Asp)
c.602G>A (p.Gly201Asp)
dbSNP gnomAD v2 gnomAD v4
16g.31185026G>CCA395669841FUSc.611G>C (p.Gly204Ala)
c.608G>C (p.Gly203Ala)
n.676G>C
c.599G>C (p.Gly200Ala)
n.716G>C
c.31G>C (p.Ala11Pro)
c.605G>C (p.Gly202Ala)
c.602G>C (p.Gly201Ala)
16g.31185026G=CA2216944780FUSc.611G= (p.Gly204=)
c.608G= (p.Gly203=)
n.676G=
c.599G= (p.Gly200=)
n.716G=
c.31G= (p.Ala11=)
c.605G= (p.Gly202=)
c.602G= (p.Gly201=)
16g.31185026G>TCA395669843FUSc.611G>T (p.Gly204Val)
c.608G>T (p.Gly203Val)
n.676G>T
c.599G>T (p.Gly200Val)
n.716G>T
c.31G>T (p.Ala11Ser)
c.605G>T (p.Gly202Val)
c.602G>T (p.Gly201Val)
COSMIC
16g.31185027C>ACA494928743FUSc.612C>A (p.Gly204=)
c.609C>A (p.Gly203=)
n.677C>A
c.600C>A (p.Gly200=)
n.717C>A
c.32C>A (p.Ala11Glu)
c.606C>A (p.Gly202=)
c.603C>A (p.Gly201=)
16g.31185027C=CA2216944785FUSc.612C= (p.Gly204=)
c.609C= (p.Gly203=)
n.677C=
c.600C= (p.Gly200=)
n.717C=
c.32C= (p.Ala11=)
c.606C= (p.Gly202=)
c.603C= (p.Gly201=)
16g.31185027C>GCA494928739FUSc.612C>G (p.Gly204=)
c.609C>G (p.Gly203=)
n.677C>G
c.600C>G (p.Gly200=)
n.717C>G
c.32C>G (p.Ala11Gly)
c.606C>G (p.Gly202=)
c.603C>G (p.Gly201=)
16g.31185027C>TCA494928741FUSc.612C>T (p.Gly204=)
c.609C>T (p.Gly203=)
n.677C>T
c.600C>T (p.Gly200=)
n.717C>T
c.32C>T (p.Ala11Val)
c.606C>T (p.Gly202=)
c.603C>T (p.Gly201=)
dbSNP gnomAD v4
16g.31185028A=CA2216944787FUSc.613A= (p.Ser205=)
c.610A= (p.Ser204=)
n.678A=
c.601A= (p.Ser201=)
n.718A=
c.33A= (p.Ala11=)
c.607A= (p.Ser203=)
c.604A= (p.Ser202=)
16g.31185028A>CCA395669846FUSc.613A>C (p.Ser205Arg)
c.610A>C (p.Ser204Arg)
n.678A>C
c.601A>C (p.Ser201Arg)
n.718A>C
c.33A>C (p.Ala11=)
c.607A>C (p.Ser203Arg)
c.604A>C (p.Ser202Arg)
16g.31185028A>GCA8023718FUSc.613A>G (p.Ser205Gly)
c.610A>G (p.Ser204Gly)
n.678A>G
c.601A>G (p.Ser201Gly)
n.718A>G
c.33A>G (p.Ala11=)
c.607A>G (p.Ser203Gly)
c.604A>G (p.Ser202Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.31185028A>TCA395669845FUSc.613A>T (p.Ser205Cys)
c.610A>T (p.Ser204Cys)
n.678A>T
c.601A>T (p.Ser201Cys)
n.718A>T
c.33A>T (p.Ala11=)
c.607A>T (p.Ser203Cys)
c.604A>T (p.Ser202Cys)
16g.31185029G>ACA395669850FUSc.614G>A (p.Ser205Asn)
c.611G>A (p.Ser204Asn)
n.679G>A
c.602G>A (p.Ser201Asn)
n.719G>A
c.34G>A (p.Ala12Thr)
c.608G>A (p.Ser203Asn)
c.605G>A (p.Ser202Asn)
gnomAD v4
16g.31185029G>CCA395669847FUSc.614G>C (p.Ser205Thr)
c.611G>C (p.Ser204Thr)
n.679G>C
c.602G>C (p.Ser201Thr)
n.719G>C
c.34G>C (p.Ala12Pro)
c.608G>C (p.Ser203Thr)
c.605G>C (p.Ser202Thr)
gnomAD v4
16g.31185029G>TCA395669849FUSc.614G>T (p.Ser205Ile)
c.611G>T (p.Ser204Ile)
n.679G>T
c.602G>T (p.Ser201Ile)
n.719G>T
c.34G>T (p.Ala12Ser)
c.608G>T (p.Ser203Ile)
c.605G>T (p.Ser202Ile)
16g.31185030C>ACA395669852FUSc.615C>A (p.Ser205Arg)
c.612C>A (p.Ser204Arg)
n.680C>A
c.603C>A (p.Ser201Arg)
n.720C>A
c.35C>A (p.Ala12Glu)
c.609C>A (p.Ser203Arg)
c.606C>A (p.Ser202Arg)
16g.31185030C=CA2216944792FUSc.615C= (p.Ser205=)
c.612C= (p.Ser204=)
n.680C=
c.603C= (p.Ser201=)
n.720C=
c.35C= (p.Ala12=)
c.609C= (p.Ser203=)
c.606C= (p.Ser202=)
16g.31185030C>GCA395669853FUSc.615C>G (p.Ser205Arg)
c.612C>G (p.Ser204Arg)
n.680C>G
c.603C>G (p.Ser201Arg)
n.720C>G
c.35C>G (p.Ala12Gly)
c.609C>G (p.Ser203Arg)
c.606C>G (p.Ser202Arg)
16g.31185030C>TCA8023719FUSc.615C>T (p.Ser205=)
c.612C>T (p.Ser204=)
n.680C>T
c.603C>T (p.Ser201=)
n.720C>T
c.35C>T (p.Ala12Val)
c.609C>T (p.Ser203=)
c.606C>T (p.Ser202=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31185031G>ACA259634FUSc.616G>A (p.Gly206Ser)
c.613G>A (p.Gly205Ser)
n.681G>A
c.604G>A (p.Gly202Ser)
n.721G>A
c.36G>A (p.Ala12=)
c.610G>A (p.Gly204Ser)
c.607G>A (p.Gly203Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31185031G>CCA395669857FUSc.616G>C (p.Gly206Arg)
c.613G>C (p.Gly205Arg)
n.681G>C
c.604G>C (p.Gly202Arg)
n.721G>C
c.36G>C (p.Ala12=)
c.610G>C (p.Gly204Arg)
c.607G>C (p.Gly203Arg)
16g.31185031G=CA2216944798FUSc.616G= (p.Gly206=)
c.613G= (p.Gly205=)
n.681G=
c.604G= (p.Gly202=)
n.721G=
c.36G= (p.Ala12=)
c.610G= (p.Gly204=)
c.607G= (p.Gly203=)
16g.31185031G>TCA395669855FUSc.616G>T (p.Gly206Cys)
c.613G>T (p.Gly205Cys)
n.681G>T
c.604G>T (p.Gly202Cys)
n.721G>T
c.36G>T (p.Ala12=)
c.610G>T (p.Gly204Cys)
c.607G>T (p.Gly203Cys)
16g.31185032G>ACA8023720FUSc.617G>A (p.Gly206Asp)
c.614G>A (p.Gly205Asp)
n.682G>A
c.605G>A (p.Gly202Asp)
n.722G>A
c.37G>A (p.Val13Met)
c.611G>A (p.Gly204Asp)
c.608G>A (p.Gly203Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.31185032G>CCA395669859FUSc.617G>C (p.Gly206Ala)
c.614G>C (p.Gly205Ala)
n.682G>C
c.605G>C (p.Gly202Ala)
n.722G>C
c.37G>C (p.Val13Leu)
c.611G>C (p.Gly204Ala)
c.608G>C (p.Gly203Ala)
COSMIC COSMIC
16g.31185032G=CA2216944805FUSc.617G= (p.Gly206=)
c.614G= (p.Gly205=)
n.682G=
c.605G= (p.Gly202=)
n.722G=
c.37G= (p.Val13=)
c.611G= (p.Gly204=)
c.608G= (p.Gly203=)
16g.31185032G>TCA395669860FUSc.617G>T (p.Gly206Val)
c.614G>T (p.Gly205Val)
n.682G>T
c.605G>T (p.Gly202Val)
n.722G>T
c.37G>T (p.Val13Leu)
c.611G>T (p.Gly204Val)
c.608G>T (p.Gly203Val)
16g.31185033T>ACA494928751FUSc.618T>A (p.Gly206=)
c.615T>A (p.Gly205=)
n.683T>A
c.606T>A (p.Gly202=)
n.723T>A
c.38T>A (p.Val13Glu)
c.612T>A (p.Gly204=)
c.609T>A (p.Gly203=)
16g.31185033T>CCA494928754FUSc.618T>C (p.Gly206=)
c.615T>C (p.Gly205=)
n.683T>C
c.606T>C (p.Gly202=)
n.723T>C
c.38T>C (p.Val13Ala)
c.612T>C (p.Gly204=)
c.609T>C (p.Gly203=)
16g.31185033T>GCA494928755FUSc.618T>G (p.Gly206=)
c.615T>G (p.Gly205=)
n.683T>G
c.606T>G (p.Gly202=)
n.723T>G
c.38T>G (p.Val13Gly)
c.612T>G (p.Gly204=)
c.609T>G (p.Gly203=)
16g.31185034G>ACA395669862FUSc.619G>A (p.Gly207Ser)
c.616G>A (p.Gly206Ser)
n.684G>A
c.607G>A (p.Gly203Ser)
n.724G>A
c.39G>A (p.Val13=)
c.613G>A (p.Gly205Ser)
c.610G>A (p.Gly204Ser)
16g.31185034G>CCA395669863FUSc.619G>C (p.Gly207Arg)
c.616G>C (p.Gly206Arg)
n.684G>C
c.607G>C (p.Gly203Arg)
n.724G>C
c.39G>C (p.Val13=)
c.613G>C (p.Gly205Arg)
c.610G>C (p.Gly204Arg)
16g.31185034G>TCA395669864FUSc.619G>T (p.Gly207Cys)
c.616G>T (p.Gly206Cys)
n.684G>T
c.607G>T (p.Gly203Cys)
n.724G>T
c.39G>T (p.Val13=)
c.613G>T (p.Gly205Cys)
c.610G>T (p.Gly204Cys)
16g.31185035G>ACA395669866FUSc.620G>A (p.Gly207Asp)
c.617G>A (p.Gly206Asp)
n.685G>A
c.608G>A (p.Gly203Asp)
n.725G>A
c.40G>A (p.Ala14Thr)
c.614G>A (p.Gly205Asp)
c.611G>A (p.Gly204Asp)
gnomAD v4
16g.31185035G>CCA395669869FUSc.620G>C (p.Gly207Ala)
c.617G>C (p.Gly206Ala)
n.685G>C
c.608G>C (p.Gly203Ala)
n.725G>C
c.40G>C (p.Ala14Pro)
c.614G>C (p.Gly205Ala)
c.611G>C (p.Gly204Ala)
16g.31185035G>TCA395669868FUSc.620G>T (p.Gly207Val)
c.617G>T (p.Gly206Val)
n.685G>T
c.608G>T (p.Gly203Val)
n.725G>T
c.40G>T (p.Ala14Ser)
c.614G>T (p.Gly205Val)
c.611G>T (p.Gly204Val)
16g.31185036C>ACA494928758FUSc.621C>A (p.Gly207=)
c.618C>A (p.Gly206=)
n.686C>A
c.609C>A (p.Gly203=)
n.726C>A
c.41C>A (p.Ala14Asp)
c.615C>A (p.Gly205=)
c.612C>A (p.Gly204=)
16g.31185036C>GCA494928759FUSc.621C>G (p.Gly207=)
c.618C>G (p.Gly206=)
n.686C>G
c.609C>G (p.Gly203=)
n.726C>G
c.41C>G (p.Ala14Gly)
c.615C>G (p.Gly205=)
c.612C>G (p.Gly204=)
16g.31185036C>TCA494928760FUSc.621C>T (p.Gly207=)
c.618C>T (p.Gly206=)
n.686C>T
c.609C>T (p.Gly203=)
n.726C>T
c.41C>T (p.Ala14Val)
c.615C>T (p.Gly205=)
c.612C>T (p.Gly204=)
16g.31185036_31185038delCA2806500734FUSc.621_623del (p.Tyr208del)
c.618_620del (p.Tyr207del)
n.686_688del
c.609_611del (p.Tyr204del)
n.726_728del
c.41_43del (p.Ala14_Met15delinsVal)
c.615_617del (p.Tyr206del)
c.612_614del (p.Tyr205del)
16g.31185037T>ACA8023721FUSc.622T>A (p.Tyr208Asn)
c.619T>A (p.Tyr207Asn)
n.687T>A
c.610T>A (p.Tyr204Asn)
n.727T>A
c.42T>A (p.Ala14=)
c.616T>A (p.Tyr206Asn)
c.613T>A (p.Tyr205Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.31185037T>CCA395669870FUSc.622T>C (p.Tyr208His)
c.619T>C (p.Tyr207His)
n.687T>C
c.610T>C (p.Tyr204His)
n.727T>C
c.42T>C (p.Ala14=)
c.616T>C (p.Tyr206His)
c.613T>C (p.Tyr205His)
16g.31185037T>GCA395669872FUSc.622T>G (p.Tyr208Asp)
c.619T>G (p.Tyr207Asp)
n.687T>G
c.610T>G (p.Tyr204Asp)
n.727T>G
c.42T>G (p.Ala14=)
c.616T>G (p.Tyr206Asp)
c.613T>G (p.Tyr205Asp)
16g.31185037T=CA2216944808FUSc.622T= (p.Tyr208=)
c.619T= (p.Tyr207=)
n.687T=
c.610T= (p.Tyr204=)
n.727T=
c.42T= (p.Ala14=)
c.616T= (p.Tyr206=)
c.613T= (p.Tyr205=)
16g.31185038A=CA2216944813FUSc.623A= (p.Tyr208=)
c.620A= (p.Tyr207=)
n.688A=
c.611A= (p.Tyr204=)
n.728A=
c.43A= (p.Met15=)
c.617A= (p.Tyr206=)
c.614A= (p.Tyr205=)
16g.31185038A>CCA395669873FUSc.623A>C (p.Tyr208Ser)
c.620A>C (p.Tyr207Ser)
n.688A>C
c.611A>C (p.Tyr204Ser)
n.728A>C
c.43A>C (p.Met15Leu)
c.617A>C (p.Tyr206Ser)
c.614A>C (p.Tyr205Ser)
gnomAD v4
16g.31185038A>GCA395669875FUSc.623A>G (p.Tyr208Cys)
c.620A>G (p.Tyr207Cys)
n.688A>G
c.611A>G (p.Tyr204Cys)
n.728A>G
c.43A>G (p.Met15Val)
c.617A>G (p.Tyr206Cys)
c.614A>G (p.Tyr205Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31185038A>TCA395669876FUSc.623A>T (p.Tyr208Phe)
c.620A>T (p.Tyr207Phe)
n.688A>T
c.611A>T (p.Tyr204Phe)
n.728A>T
c.43A>T (p.Met15Leu)
c.617A>T (p.Tyr206Phe)
c.614A>T (p.Tyr205Phe)
16g.31185039T>ACA395669877FUSc.624T>A (p.Tyr208Ter)
c.621T>A (p.Tyr207Ter)
n.689T>A
c.612T>A (p.Tyr204Ter)
n.729T>A
c.44T>A (p.Met15Lys)
c.618T>A (p.Tyr206Ter)
c.615T>A (p.Tyr205Ter)
16g.31185039T>CCA494928764FUSc.624T>C (p.Tyr208=)
c.621T>C (p.Tyr207=)
n.689T>C
c.612T>C (p.Tyr204=)
n.729T>C
c.44T>C (p.Met15Thr)
c.618T>C (p.Tyr206=)
c.615T>C (p.Tyr205=)
dbSNP gnomAD v4
16g.31185039T>GCA395669878FUSc.624T>G (p.Tyr208Ter)
c.621T>G (p.Tyr207Ter)
n.689T>G
c.612T>G (p.Tyr204Ter)
n.729T>G
c.44T>G (p.Met15Arg)
c.618T>G (p.Tyr206Ter)
c.615T>G (p.Tyr205Ter)
16g.31185040G>ACA395669880FUSc.625G>A (p.Gly209Arg)
c.622G>A (p.Gly208Arg)
n.690G>A
c.613G>A (p.Gly205Arg)
n.730G>A
c.45G>A (p.Met15Ile)
c.619G>A (p.Gly207Arg)
c.616G>A (p.Gly206Arg)
gnomAD v4
16g.31185040G>CCA395669882FUSc.625G>C (p.Gly209Arg)
c.622G>C (p.Gly208Arg)
n.690G>C
c.613G>C (p.Gly205Arg)
n.730G>C
c.45G>C (p.Met15Ile)
c.619G>C (p.Gly207Arg)
c.616G>C (p.Gly206Arg)
16g.31185040G>TCA395669884FUSc.625G>T (p.Gly209Ter)
c.622G>T (p.Gly208Ter)
n.690G>T
c.613G>T (p.Gly205Ter)
n.730G>T
c.45G>T (p.Met15Ile)
c.619G>T (p.Gly207Ter)
c.616G>T (p.Gly206Ter)
16g.31185041G>ACA395669887FUSc.626G>A (p.Gly209Glu)
c.623G>A (p.Gly208Glu)
n.691G>A
c.614G>A (p.Gly205Glu)
n.731G>A
c.46G>A (p.Asp16Asn)
c.620G>A (p.Gly207Glu)
c.617G>A (p.Gly206Glu)
16g.31185041G>CCA395669892FUSc.626G>C (p.Gly209Ala)
c.623G>C (p.Gly208Ala)
n.691G>C
c.614G>C (p.Gly205Ala)
n.731G>C
c.46G>C (p.Asp16His)
c.620G>C (p.Gly207Ala)
c.617G>C (p.Gly206Ala)
16g.31185041G>TCA395669885FUSc.626G>T (p.Gly209Val)
c.623G>T (p.Gly208Val)
n.691G>T
c.614G>T (p.Gly205Val)
n.731G>T
c.46G>T (p.Asp16Tyr)
c.620G>T (p.Gly207Val)
c.617G>T (p.Gly206Val)
16g.31185042A=CA2216944817FUSc.627A= (p.Gly209=)
c.624A= (p.Gly208=)
n.692A=
c.615A= (p.Gly205=)
n.732A=
c.47A= (p.Asp16=)
c.621A= (p.Gly207=)
c.618A= (p.Gly206=)
16g.31185042A>CCA494928766FUSc.627A>C (p.Gly209=)
c.624A>C (p.Gly208=)
n.692A>C
c.615A>C (p.Gly205=)
n.732A>C
c.47A>C (p.Asp16Ala)
c.621A>C (p.Gly207=)
c.618A>C (p.Gly206=)
16g.31185042A>GCA494928767FUSc.627A>G (p.Gly209=)
c.624A>G (p.Gly208=)
n.692A>G
c.615A>G (p.Gly205=)
n.732A>G
c.47A>G (p.Asp16Gly)
c.621A>G (p.Gly207=)
c.618A>G (p.Gly206=)
dbSNP
16g.31185042A>TCA494928768FUSc.627A>T (p.Gly209=)
c.624A>T (p.Gly208=)
n.692A>T
c.615A>T (p.Gly205=)
n.732A>T
c.47A>T (p.Asp16Val)
c.621A>T (p.Gly207=)
c.618A>T (p.Gly206=)
16g.31185043_31185044delCA2806500735FUSc.628_629del (p.Gln210AlafsTer30)
c.625_626del (p.Gln209AlafsTer30)
n.693_694del
c.616_617del (p.Gln206AlafsTer30)
n.733_734del
c.48_49del (p.Asp16GlufsTer?)
c.622_623del (p.Gln208AlafsTer30)
c.619_620del (p.Gln207AlafsTer30)
16g.31185043C>ACA395669895FUSc.628C>A (p.Gln210Lys)
c.625C>A (p.Gln209Lys)
n.693C>A
c.616C>A (p.Gln206Lys)
n.733C>A
c.48C>A (p.Asp16Glu)
c.622C>A (p.Gln208Lys)
c.619C>A (p.Gln207Lys)
16g.31185043C>GCA395669898FUSc.628C>G (p.Gln210Glu)
c.625C>G (p.Gln209Glu)
n.693C>G
c.616C>G (p.Gln206Glu)
n.733C>G
c.48C>G (p.Asp16Glu)
c.622C>G (p.Gln208Glu)
c.619C>G (p.Gln207Glu)
16g.31185043C>TCA395669896FUSc.628C>T (p.Gln210Ter)
c.625C>T (p.Gln209Ter)
n.693C>T
c.616C>T (p.Gln206Ter)
n.733C>T
c.48C>T (p.Asp16=)
c.622C>T (p.Gln208Ter)
c.619C>T (p.Gln207Ter)
16g.31185044A>CCA395669901FUSc.629A>C (p.Gln210Pro)
c.626A>C (p.Gln209Pro)
n.694A>C
c.617A>C (p.Gln206Pro)
n.734A>C
c.49A>C (p.Ser17Arg)
c.623A>C (p.Gln208Pro)
c.620A>C (p.Gln207Pro)
16g.31185044A>GCA395669902FUSc.629A>G (p.Gln210Arg)
c.626A>G (p.Gln209Arg)
n.694A>G
c.617A>G (p.Gln206Arg)
n.734A>G
c.49A>G (p.Ser17Gly)
c.623A>G (p.Gln208Arg)
c.620A>G (p.Gln207Arg)
16g.31185044A>TCA395669905FUSc.629A>T (p.Gln210Leu)
c.626A>T (p.Gln209Leu)
n.694A>T
c.617A>T (p.Gln206Leu)
n.734A>T
c.49A>T (p.Ser17Cys)
c.623A>T (p.Gln208Leu)
c.620A>T (p.Gln207Leu)
16g.31185045G>ACA494928771FUSc.630G>A (p.Gln210=)
c.627G>A (p.Gln209=)
n.695G>A
c.618G>A (p.Gln206=)
n.735G>A
c.50G>A (p.Ser17Asn)
c.624G>A (p.Gln208=)
c.621G>A (p.Gln207=)
16g.31185045G>CCA280594736FUSc.630G>C (p.Gln210His)
c.627G>C (p.Gln209His)
n.695G>C
c.618G>C (p.Gln206His)
n.735G>C
c.50G>C (p.Ser17Thr)
c.624G>C (p.Gln208His)
c.621G>C (p.Gln207His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31185045G=CA2216944824FUSc.630G= (p.Gln210=)
c.627G= (p.Gln209=)
n.695G=
c.618G= (p.Gln206=)
n.735G=
c.50G= (p.Ser17=)
c.624G= (p.Gln208=)
c.621G= (p.Gln207=)
16g.31185045G>TCA395669909FUSc.630G>T (p.Gln210His)
c.627G>T (p.Gln209His)
n.695G>T
c.618G>T (p.Gln206His)
n.735G>T
c.50G>T (p.Ser17Ile)
c.624G>T (p.Gln208His)
c.621G>T (p.Gln207His)
COSMIC
16g.31185046C>ACA395669910FUSc.631C>A (p.Gln211Lys)
c.628C>A (p.Gln210Lys)
n.696C>A
c.619C>A (p.Gln207Lys)
n.736C>A
c.51C>A (p.Ser17Arg)
c.625C>A (p.Gln209Lys)
c.622C>A (p.Gln208Lys)
16g.31185046C>GCA395669912FUSc.631C>G (p.Gln211Glu)
c.628C>G (p.Gln210Glu)
n.696C>G
c.619C>G (p.Gln207Glu)
n.736C>G
c.51C>G (p.Ser17Arg)
c.625C>G (p.Gln209Glu)
c.622C>G (p.Gln208Glu)
16g.31185046C>TCA395669915FUSc.631C>T (p.Gln211Ter)
c.628C>T (p.Gln210Ter)
n.696C>T
c.619C>T (p.Gln207Ter)
n.736C>T
c.51C>T (p.Ser17=)
c.625C>T (p.Gln209Ter)
c.622C>T (p.Gln208Ter)
16g.31185046_31185052delCA2806500736FUSc.631_637del (p.Gln211ValfsTer?)
c.628_634del (p.Gln210ValfsTer?)
n.696_702del
c.619_625del (p.Gln207ValfsTer?)
n.736_742del
c.51_57del (p.Ser17ArgfsTer28)
c.625_631del (p.Gln209ValfsTer?)
c.622_628del (p.Gln208ValfsTer?)
16g.31185047A>CCA395669916FUSc.632A>C (p.Gln211Pro)
c.629A>C (p.Gln210Pro)
n.697A>C
c.620A>C (p.Gln207Pro)
n.737A>C
c.52A>C (p.Arg18=)
c.626A>C (p.Gln209Pro)
c.623A>C (p.Gln208Pro)
16g.31185047A>GCA395669917FUSc.632A>G (p.Gln211Arg)
c.629A>G (p.Gln210Arg)
n.697A>G
c.620A>G (p.Gln207Arg)
n.737A>G
c.52A>G (p.Arg18Gly)
c.626A>G (p.Gln209Arg)
c.623A>G (p.Gln208Arg)
16g.31185047A>TCA395669919FUSc.632A>T (p.Gln211Leu)
c.629A>T (p.Gln210Leu)
n.697A>T
c.620A>T (p.Gln207Leu)
n.737A>T
c.52A>T (p.Arg18Trp)
c.626A>T (p.Gln209Leu)
c.623A>T (p.Gln208Leu)
16g.31185048G>ACA494928772FUSc.633G>A (p.Gln211=)
c.630G>A (p.Gln210=)
n.698G>A
c.621G>A (p.Gln207=)
n.738G>A
c.53G>A (p.Arg18Lys)
c.627G>A (p.Gln209=)
c.624G>A (p.Gln208=)
16g.31185048G>CCA395669921FUSc.633G>C (p.Gln211His)
c.630G>C (p.Gln210His)
n.698G>C
c.621G>C (p.Gln207His)
n.738G>C
c.53G>C (p.Arg18Thr)
c.627G>C (p.Gln209His)
c.624G>C (p.Gln208His)
16g.31185048G>TCA395669923FUSc.633G>T (p.Gln211His)
c.630G>T (p.Gln210His)
n.698G>T
c.621G>T (p.Gln207His)
n.738G>T
c.53G>T (p.Arg18Met)
c.627G>T (p.Gln209His)
c.624G>T (p.Gln208His)
16g.31185049G>ACA395669925FUSc.634G>A (p.Asp212Asn)
c.631G>A (p.Asp211Asn)
n.699G>A
c.622G>A (p.Asp208Asn)
n.739G>A
c.54G>A (p.Arg18=)
c.628G>A (p.Asp210Asn)
c.625G>A (p.Asp209Asn)
dbSNP
16g.31185049G>CCA395669929FUSc.634G>C (p.Asp212His)
c.631G>C (p.Asp211His)
n.699G>C
c.622G>C (p.Asp208His)
n.739G>C
c.54G>C (p.Arg18Ser)
c.628G>C (p.Asp210His)
c.625G>C (p.Asp209His)
16g.31185049G=CA2216944828FUSc.634G= (p.Asp212=)
c.631G= (p.Asp211=)
n.699G=
c.622G= (p.Asp208=)
n.739G=
c.54G= (p.Arg18=)
c.628G= (p.Asp210=)
c.625G= (p.Asp209=)
16g.31185049G>TCA395669927FUSc.634G>T (p.Asp212Tyr)
c.631G>T (p.Asp211Tyr)
n.699G>T
c.622G>T (p.Asp208Tyr)
n.739G>T
c.54G>T (p.Arg18Ser)
c.628G>T (p.Asp210Tyr)
c.625G>T (p.Asp209Tyr)
16g.31185050A=CA2216944831FUSc.635A= (p.Asp212=)
c.632A= (p.Asp211=)
n.700A=
c.623A= (p.Asp208=)
n.740A=
c.55A= (p.Thr19=)
c.629A= (p.Asp210=)
c.626A= (p.Asp209=)
16g.31185050A>CCA395669932FUSc.635A>C (p.Asp212Ala)
c.632A>C (p.Asp211Ala)
n.700A>C
c.623A>C (p.Asp208Ala)
n.740A>C
c.55A>C (p.Thr19Pro)
c.629A>C (p.Asp210Ala)
c.626A>C (p.Asp209Ala)
dbSNP gnomAD v2 gnomAD v4
16g.31185050A>GCA395669934FUSc.635A>G (p.Asp212Gly)
c.632A>G (p.Asp211Gly)
n.700A>G
c.623A>G (p.Asp208Gly)
n.740A>G
c.55A>G (p.Thr19Ala)
c.629A>G (p.Asp210Gly)
c.626A>G (p.Asp209Gly)
16g.31185050A>TCA395669936FUSc.635A>T (p.Asp212Val)
c.632A>T (p.Asp211Val)
n.700A>T
c.623A>T (p.Asp208Val)
n.740A>T
c.55A>T (p.Thr19Ser)
c.629A>T (p.Asp210Val)
c.626A>T (p.Asp209Val)
16g.31185051C>ACA395669938FUSc.636C>A (p.Asp212Glu)
c.633C>A (p.Asp211Glu)
n.701C>A
c.624C>A (p.Asp208Glu)
n.741C>A
c.56C>A (p.Thr19Asn)
c.630C>A (p.Asp210Glu)
c.627C>A (p.Asp209Glu)
ClinVar
16g.31185051C=CA2216944835FUSc.636C= (p.Asp212=)
c.633C= (p.Asp211=)
n.701C=
c.624C= (p.Asp208=)
n.741C=
c.56C= (p.Thr19=)
c.630C= (p.Asp210=)
c.627C= (p.Asp209=)
16g.31185051C>GCA280594739FUSc.636C>G (p.Asp212Glu)
c.633C>G (p.Asp211Glu)
n.701C>G
c.624C>G (p.Asp208Glu)
n.741C>G
c.56C>G (p.Thr19Ser)
c.630C>G (p.Asp210Glu)
c.627C>G (p.Asp209Glu)
dbSNP gnomAD v3 gnomAD v4
16g.31185051C>TCA8023722FUSc.636C>T (p.Asp212=)
c.633C>T (p.Asp211=)
n.701C>T
c.624C>T (p.Asp208=)
n.741C>T
c.56C>T (p.Thr19Ile)
c.630C>T (p.Asp210=)
c.627C>T (p.Asp209=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31185052C>ACA395669941FUSc.637C>A (p.Arg213Ser)
c.634C>A (p.Arg212Ser)
n.702C>A
c.625C>A (p.Arg209Ser)
n.742C>A
c.57C>A (p.Thr19=)
c.631C>A (p.Arg211Ser)
c.628C>A (p.Arg210Ser)
16g.31185052C=CA2216944841FUSc.637C= (p.Arg213=)
c.634C= (p.Arg212=)
n.702C=
c.625C= (p.Arg209=)
n.742C=
c.57C= (p.Thr19=)
c.631C= (p.Arg211=)
c.628C= (p.Arg210=)
16g.31185052C>GCA395669944FUSc.637C>G (p.Arg213Gly)
c.634C>G (p.Arg212Gly)
n.702C>G
c.625C>G (p.Arg209Gly)
n.742C>G
c.57C>G (p.Thr19=)
c.631C>G (p.Arg211Gly)
c.628C>G (p.Arg210Gly)
16g.31185052C>TCA8023723FUSc.637C>T (p.Arg213Cys)
c.634C>T (p.Arg212Cys)
n.702C>T
c.625C>T (p.Arg209Cys)
n.742C>T
c.57C>T (p.Thr19=)
c.631C>T (p.Arg211Cys)
c.628C>T (p.Arg210Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.31185053G>ACA395669952FUSc.638G>A (p.Arg213His)
c.635G>A (p.Arg212His)
n.703G>A
c.626G>A (p.Arg209His)
n.743G>A
c.58G>A (p.Val20Met)
c.632G>A (p.Arg211His)
c.629G>A (p.Arg210His)
ClinVar gnomAD v4
16g.31185053G>CCA395669950FUSc.638G>C (p.Arg213Pro)
c.635G>C (p.Arg212Pro)
n.703G>C
c.626G>C (p.Arg209Pro)
n.743G>C
c.58G>C (p.Val20Leu)
c.632G>C (p.Arg211Pro)
c.629G>C (p.Arg210Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31185053G=CA2216944842FUSc.638G= (p.Arg213=)
c.635G= (p.Arg212=)
n.703G=
c.626G= (p.Arg209=)
n.743G=
c.58G= (p.Val20=)
c.632G= (p.Arg211=)
c.629G= (p.Arg210=)
16g.31185053G>TCA395669948FUSc.638G>T (p.Arg213Leu)
c.635G>T (p.Arg212Leu)
n.703G>T
c.626G>T (p.Arg209Leu)
n.743G>T
c.58G>T (p.Val20Leu)
c.632G>T (p.Arg211Leu)
c.629G>T (p.Arg210Leu)
16g.31185054T>ACA494928796FUSc.639T>A (p.Arg213=)
c.636T>A (p.Arg212=)
n.704T>A
c.627T>A (p.Arg209=)
n.744T>A
c.59T>A (p.Val20Glu)
c.633T>A (p.Arg211=)
c.630T>A (p.Arg210=)
16g.31185054T>CCA494928798FUSc.639T>C (p.Arg213=)
c.636T>C (p.Arg212=)
n.704T>C
c.627T>C (p.Arg209=)
n.744T>C
c.59T>C (p.Val20Ala)
c.633T>C (p.Arg211=)
c.630T>C (p.Arg210=)
gnomAD v4
16g.31185054T>GCA494928797FUSc.639T>G (p.Arg213=)
c.636T>G (p.Arg212=)
n.704T>G
c.627T>G (p.Arg209=)
n.744T>G
c.59T>G (p.Val20Gly)
c.633T>G (p.Arg211=)
c.630T>G (p.Arg210=)
16g.31185055G>ACA395669953FUSc.640G>A (p.Gly214Arg)
c.637G>A (p.Gly213Arg)
n.705G>A
c.628G>A (p.Gly210Arg)
n.745G>A
c.60G>A (p.Val20=)
c.634G>A (p.Gly212Arg)
c.631G>A (p.Gly211Arg)
COSMIC
16g.31185055G>CCA395669954FUSc.640G>C (p.Gly214Arg)
c.637G>C (p.Gly213Arg)
n.705G>C
c.628G>C (p.Gly210Arg)
n.745G>C
c.60G>C (p.Val20=)
c.634G>C (p.Gly212Arg)
c.631G>C (p.Gly211Arg)
16g.31185055G>TCA395669955FUSc.640G>T (p.Gly214Ter)
c.637G>T (p.Gly213Ter)
n.705G>T
c.628G>T (p.Gly210Ter)
n.745G>T
c.60G>T (p.Val20=)
c.634G>T (p.Gly212Ter)
c.631G>T (p.Gly211Ter)
16g.31185056G>ACA395669956FUSc.641G>A (p.Gly214Glu)
c.638G>A (p.Gly213Glu)
n.706G>A
c.629G>A (p.Gly210Glu)
n.746G>A
c.61G>A (p.Glu21Lys)
c.635G>A (p.Gly212Glu)
c.632G>A (p.Gly211Glu)
16g.31185056G>CCA395669957FUSc.641G>C (p.Gly214Ala)
c.638G>C (p.Gly213Ala)
n.706G>C
c.629G>C (p.Gly210Ala)
n.746G>C
c.61G>C (p.Glu21Gln)
c.635G>C (p.Gly212Ala)
c.632G>C (p.Gly211Ala)
16g.31185056G>TCA395669958FUSc.641G>T (p.Gly214Val)
c.638G>T (p.Gly213Val)
n.706G>T
c.629G>T (p.Gly210Val)
n.746G>T
c.61G>T (p.Glu21Ter)
c.635G>T (p.Gly212Val)
c.632G>T (p.Gly211Val)
16g.31185057A=CA2216944843FUSc.642A= (p.Gly214=)
c.639A= (p.Gly213=)
n.707A=
c.630A= (p.Gly210=)
n.747A=
c.62A= (p.Glu21=)
c.636A= (p.Gly212=)
c.633A= (p.Gly211=)
16g.31185057A>CCA494928799FUSc.642A>C (p.Gly214=)
c.639A>C (p.Gly213=)
n.707A>C
c.630A>C (p.Gly210=)
n.747A>C
c.62A>C (p.Glu21Ala)
c.636A>C (p.Gly212=)
c.633A>C (p.Gly211=)
16g.31185057A>GCA494928800FUSc.642A>G (p.Gly214=)
c.639A>G (p.Gly213=)
n.707A>G
c.630A>G (p.Gly210=)
n.747A>G
c.62A>G (p.Glu21Gly)
c.636A>G (p.Gly212=)
c.633A>G (p.Gly211=)
dbSNP
16g.31185057A>TCA494928801FUSc.642A>T (p.Gly214=)
c.639A>T (p.Gly213=)
n.707A>T
c.630A>T (p.Gly210=)
n.747A>T
c.62A>T (p.Glu21Val)
c.636A>T (p.Gly212=)
c.633A>T (p.Gly211=)
dbSNP gnomAD v2 gnomAD v4
16g.31185057_31185081delinsAGGCCGCGGCAGGGGTGGCAGTGGTCA2216944844FUSc.642_666delinsAGGCCGCGGCAGGGGTGGCAGTGGT (p.Gly214=)
c.639_663delinsAGGCCGCGGCAGGGGTGGCAGTGGT (p.Gly213=)
n.707_731delinsAGGCCGCGGCAGGGGTGGCAGTGGT
c.630_654delinsAGGCCGCGGCAGGGGTGGCAGTGGT (p.Gly210=)
n.747_771delinsAGGCCGCGGCAGGGGTGGCAGTGGT
c.62_86delinsAGGCCGCGGCAGGGGTGGCAGTGGT (p.Glu21=)
c.636_660delinsAGGCCGCGGCAGGGGTGGCAGTGGT (p.Gly212=)
c.633_657delinsAGGCCGCGGCAGGGGTGGCAGTGGT (p.Gly211=)
16g.31185058G>ACA395669960FUSc.643G>A (p.Gly215Ser)
c.640G>A (p.Gly214Ser)
n.708G>A
c.631G>A (p.Gly211Ser)
n.748G>A
c.63G>A (p.Glu21=)
c.637G>A (p.Gly213Ser)
c.634G>A (p.Gly212Ser)
16g.31185058G>CCA395669962FUSc.643G>C (p.Gly215Arg)
c.640G>C (p.Gly214Arg)
n.708G>C
c.631G>C (p.Gly211Arg)
n.748G>C
c.63G>C (p.Glu21Asp)
c.637G>C (p.Gly213Arg)
c.634G>C (p.Gly212Arg)
16g.31185058G>TCA395669963FUSc.643G>T (p.Gly215Cys)
c.640G>T (p.Gly214Cys)
n.708G>T
c.631G>T (p.Gly211Cys)
n.748G>T
c.63G>T (p.Glu21Asp)
c.637G>T (p.Gly213Cys)
c.634G>T (p.Gly212Cys)
16g.31185060_31185071delCA2806500737FUSc.645_656del (p.Arg216_Gly219del)
c.642_653del (p.Arg215_Gly218del)
n.710_721del
c.633_644del (p.Arg212_Gly215del)
n.750_761del
c.65_76del (p.Ala22_Gly25del)
c.639_650del (p.Arg214_Gly217del)
c.636_647del (p.Arg213_Gly216del)
16g.31185061_31185084delCA719930580FUSc.646_669del (p.Arg216_Gly223del)
c.643_666del (p.Arg215_Gly222del)
n.711_734del
c.634_657del (p.Arg212_Gly219del)
n.751_774del
c.66_89del (p.Ala23_Ala30del)
c.640_663del (p.Arg214_Gly221del)
c.637_660del (p.Arg213_Gly220del)
ClinVar dbSNP gnomAD v4
16g.31185059G>ACA395669970FUSc.644G>A (p.Gly215Asp)
c.641G>A (p.Gly214Asp)
n.709G>A
c.632G>A (p.Gly211Asp)
n.749G>A
c.64G>A (p.Ala22Thr)
c.638G>A (p.Gly213Asp)
c.635G>A (p.Gly212Asp)
16g.31185059G>CCA395669972FUSc.644G>C (p.Gly215Ala)
c.641G>C (p.Gly214Ala)
n.709G>C
c.632G>C (p.Gly211Ala)
n.749G>C
c.64G>C (p.Ala22Pro)
c.638G>C (p.Gly213Ala)
c.635G>C (p.Gly212Ala)
16g.31185059G>TCA395669973FUSc.644G>T (p.Gly215Val)
c.641G>T (p.Gly214Val)
n.709G>T
c.632G>T (p.Gly211Val)
n.749G>T
c.64G>T (p.Ala22Ser)
c.638G>T (p.Gly213Val)
c.635G>T (p.Gly212Val)
gnomAD v4
16g.31185060C>ACA280594740FUSc.645C>A (p.Gly215=)
c.642C>A (p.Gly214=)
n.710C>A
c.633C>A (p.Gly211=)
n.750C>A
c.65C>A (p.Ala22Asp)
c.639C>A (p.Gly213=)
c.636C>A (p.Gly212=)
dbSNP
16g.31185060C=CA2216944845FUSc.645C= (p.Gly215=)
c.642C= (p.Gly214=)
n.710C=
c.633C= (p.Gly211=)
n.750C=
c.65C= (p.Ala22=)
c.639C= (p.Gly213=)
c.636C= (p.Gly212=)
16g.31185060C>GCA494928804FUSc.645C>G (p.Gly215=)
c.642C>G (p.Gly214=)
n.710C>G
c.633C>G (p.Gly211=)
n.750C>G
c.65C>G (p.Ala22Gly)
c.639C>G (p.Gly213=)
c.636C>G (p.Gly212=)
16g.31185060C>TCA494928807FUSc.645C>T (p.Gly215=)
c.642C>T (p.Gly214=)
n.710C>T
c.633C>T (p.Gly211=)
n.750C>T
c.65C>T (p.Ala22Val)
c.639C>T (p.Gly213=)
c.636C>T (p.Gly212=)
COSMIC COSMIC
16g.31185060_31185069delinsCCGCGGCAGGCA2216944846FUSc.645_654delinsCCGCGGCAGG (p.Gly215=)
c.642_651delinsCCGCGGCAGG (p.Gly214=)
n.710_719delinsCCGCGGCAGG
c.633_642delinsCCGCGGCAGG (p.Gly211=)
n.750_759delinsCCGCGGCAGG
c.65_74delinsCCGCGGCAGG (p.Ala22=)
c.639_648delinsCCGCGGCAGG (p.Gly213=)
c.636_645delinsCCGCGGCAGG (p.Gly212=)
16g.31185061C>ACA395669987FUSc.646C>A (p.Arg216Ser)
c.643C>A (p.Arg215Ser)
n.711C>A
c.634C>A (p.Arg212Ser)
n.751C>A
c.66C>A (p.Ala22=)
c.640C>A (p.Arg214Ser)
c.637C>A (p.Arg213Ser)
16g.31185061C=CA2216944847FUSc.646C= (p.Arg216=)
c.643C= (p.Arg215=)
n.711C=
c.634C= (p.Arg212=)
n.751C=
c.66C= (p.Ala22=)
c.640C= (p.Arg214=)
c.637C= (p.Arg213=)
16g.31185061C>GCA395669978FUSc.646C>G (p.Arg216Gly)
c.643C>G (p.Arg215Gly)
n.711C>G
c.634C>G (p.Arg212Gly)
n.751C>G
c.66C>G (p.Ala22=)
c.640C>G (p.Arg214Gly)
c.637C>G (p.Arg213Gly)
dbSNP
16g.31185061C>TCA130062FUSc.646C>T (p.Arg216Cys)
c.643C>T (p.Arg215Cys)
n.711C>T
c.634C>T (p.Arg212Cys)
n.751C>T
c.66C>T (p.Ala22=)
c.640C>T (p.Arg214Cys)
c.637C>T (p.Arg213Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31185061_31185069delCA8023724FUSc.646_654del (p.Arg216_Arg218del)
c.643_651del (p.Arg215_Arg217del)
n.711_719del
c.634_642del (p.Arg212_Arg214del)
n.751_759del
c.66_74del (p.Ala23_Gly25del)
c.640_648del (p.Arg214_Arg216del)
c.637_645del (p.Arg213_Arg215del)
dbSNP ExAC gnomAD v2
16g.31185061_31185088delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCGCA2216944848FUSc.646_673delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG (p.Arg216=)
c.643_670delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG (p.Arg215=)
n.711_738delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG
c.634_661delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG (p.Arg212=)
n.751_778delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG
c.66_93delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG (p.Ala22=)
c.640_667delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG (p.Arg214=)
c.637_664delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG (p.Arg213=)

Number of alleles fetched