Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42910912_42911425delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTACA2260697314G6PC1c.563-3_1073delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA
c.447-3_*465delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA
c.486-3_*465delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA
17g.42910915_42911427delCA1139665564G6PC1c.563_*1del
c.447_*467del
c.486_*467del
 ClinVar dbSNP
17g.42911367A>CCA399657602G6PC1c.1015A>C (p.Ser339Arg)
c.*407A>C (n.*407A>C)
17g.42911367A>GCA399657603G6PC1c.1015A>G (p.Ser339Gly)
c.*407A>G (n.*407A>G)
17g.42911367A>TCA399657605G6PC1c.1015A>T (p.Ser339Cys)
c.*407A>T (n.*407A>T)
17g.42911368G>ACA399657607G6PC1c.1016G>A (p.Ser339Asn)
c.*408G>A (n.*408G>A)
 gnomAD v4
17g.42911368G>CCA399657611G6PC1c.1016G>C (p.Ser339Thr)
c.*408G>C (n.*408G>C)
 dbSNP
17g.42911368G=CA2260697505G6PC1c.1016G= (p.Ser339=)
c.*408G= (n.*408G=)
17g.42911368G>TCA399657612G6PC1c.1016G>T (p.Ser339Ile)
c.*408G>T (n.*408G>T)
17g.42911369T>ACA399657616G6PC1c.1017T>A (p.Ser339Arg)
c.*409T>A (n.*409T>A)
17g.42911369T>CCA500229467G6PC1c.1017T>C (p.Ser339=)
c.*409T>C (n.*409T>C)
 dbSNP
17g.42911369T>GCA399657619G6PC1c.1017T>G (p.Ser339Arg)
c.*409T>G (n.*409T>G)
17g.42911369T=CA2260697509G6PC1c.1017T= (p.Ser339=)
c.*409T= (n.*409T=)
17g.42911369_42911372delinsTGTCCA2260697506G6PC1c.1017_1020delinsTGTC (p.Ser339=)
c.*409_*412delinsTGTC (n.*409_*412delinsTGTC)
17g.42911369_42911378delinsTGTCATCCCCCA2260697507G6PC1c.1017_1026delinsTGTCATCCCC (p.Ser339=)
c.*409_*418delinsTGTCATCCCC (n.*409_*418delinsTGTCATCCCC)
17g.42911369_42911379delinsTGTCATCCCCTCA2260697508G6PC1c.1017_1027delinsTGTCATCCCCT (p.Ser339=)
c.*409_*419delinsTGTCATCCCCT (n.*409_*419delinsTGTCATCCCCT)
17g.42911370G>ACA399657624G6PC1c.1018G>A (p.Val340Ile)
c.*410G>A (n.*410G>A)
 gnomAD v4
17g.42911370G>CCA399657634G6PC1c.1018G>C (p.Val340Leu)
c.*410G>C (n.*410G>C)
17g.42911370G>TCA399657630G6PC1c.1018G>T (p.Val340Phe)
c.*410G>T (n.*410G>T)
17g.42911370_42911372delCA8587699G6PC1c.1018_1020del (p.Val340del)
c.*410_*412del (n.*410_*412del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911370_42911378delCA772150990G6PC1c.1018_1026del (p.Val340_Pro342del)
c.*410_*418del (n.*410_*418del)
 ClinVar dbSNP
17g.42911370_42911379delinsACA658658619G6PC1c.1018_1027delinsA (p.Val340_Tyr343delinsAsn)
c.*410_*419delinsA (n.*410_*419delinsA)
 ClinVar dbSNP
17g.42911371T>ACA399657637G6PC1c.1019T>A (p.Val340Asp)
c.*411T>A (n.*411T>A)
17g.42911371T>CCA399657639G6PC1c.1019T>C (p.Val340Ala)
c.*411T>C (n.*411T>C)
17g.42911371T>GCA399657642G6PC1c.1019T>G (p.Val340Gly)
c.*411T>G (n.*411T>G)
17g.42911372C>ACA500229470G6PC1c.1020C>A (p.Val340=)
c.*412C>A (n.*412C>A)
 gnomAD v4
17g.42911372C>GCA500229472G6PC1c.1020C>G (p.Val340=)
c.*412C>G (n.*412C>G)
17g.42911372C>TCA500229471G6PC1c.1020C>T (p.Val340=)
c.*412C>T (n.*412C>T)
 ClinVar gnomAD v4 COSMIC
17g.42911373A>CCA399657645G6PC1c.1021A>C (p.Ile341Leu)
c.*413A>C (n.*413A>C)
17g.42911373A>GCA399657649G6PC1c.1021A>G (p.Ile341Val)
c.*413A>G (n.*413A>G)
17g.42911373A>TCA399657661G6PC1c.1021A>T (p.Ile341Phe)
c.*413A>T (n.*413A>T)
17g.42911373_42911379delinsATCCCCTCA2260697510G6PC1c.1021_1027delinsATCCCCT (p.Ile341=)
c.*413_*419delinsATCCCCT (n.*413_*419delinsATCCCCT)
17g.42911374T>ACA256191G6PC1c.1022T>A (p.Ile341Asn)
c.*414T>A (n.*414T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911374T>CCA399657667G6PC1c.1022T>C (p.Ile341Thr)
c.*414T>C (n.*414T>C)
 dbSNP
17g.42911374T>GCA399657668G6PC1c.1022T>G (p.Ile341Ser)
c.*414T>G (n.*414T>G)
17g.42911374T=CA2260697511G6PC1c.1022T= (p.Ile341=)
c.*414T= (n.*414T=)
17g.42911374_42911379delCA8587700G6PC1c.1022_1027del (p.Ile341_Tyr343delinsAsn)
c.*414_*419del (n.*414_*419del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911375C>ACA500229477G6PC1c.1023C>A (p.Ile341=)
c.*415C>A (n.*415C>A)
 ClinVar dbSNP
17g.42911375C=CA2260697512G6PC1c.1023C= (p.Ile341=)
c.*415C= (n.*415C=)
17g.42911375C>GCA399657671G6PC1c.1023C>G (p.Ile341Met)
c.*415C>G (n.*415C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.42911375C>TCA500229478G6PC1c.1023C>T (p.Ile341=)
c.*415C>T (n.*415C>T)
 ClinVar COSMIC
17g.42911376C>ACA399657680G6PC1c.1024C>A (p.Pro342Thr)
c.*416C>A (n.*416C>A)
17g.42911376C>GCA399657676G6PC1c.1024C>G (p.Pro342Ala)
c.*416C>G (n.*416C>G)
17g.42911376C>TCA399657678G6PC1c.1024C>T (p.Pro342Ser)
c.*416C>T (n.*416C>T)
 gnomAD v4
17g.42911377C>ACA399657685G6PC1c.1025C>A (p.Pro342His)
c.*417C>A (n.*417C>A)
17g.42911377C>GCA399657687G6PC1c.1025C>G (p.Pro342Arg)
c.*417C>G (n.*417C>G)
17g.42911377C>TCA399657689G6PC1c.1025C>T (p.Pro342Leu)
c.*417C>T (n.*417C>T)
17g.42911378C>ACA500229483G6PC1c.1026C>A (p.Pro342=)
c.*418C>A (n.*418C>A)
17g.42911378C=CA2260697513G6PC1c.1026C= (p.Pro342=)
c.*418C= (n.*418C=)
17g.42911378C>GCA500229485G6PC1c.1026C>G (p.Pro342=)
c.*418C>G (n.*418C>G)
17g.42911378C>TCA500229486G6PC1c.1026C>T (p.Pro342=)
c.*418C>T (n.*418C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42911379T>ACA399657693G6PC1c.1027T>A (p.Tyr343Asn)
c.*419T>A (n.*419T>A)
 dbSNP
17g.42911379T>CCA399657695G6PC1c.1027T>C (p.Tyr343His)
c.*419T>C (n.*419T>C)
17g.42911379T>GCA399657698G6PC1c.1027T>G (p.Tyr343Asp)
c.*419T>G (n.*419T>G)
17g.42911379T=CA2260697514G6PC1c.1027T= (p.Tyr343=)
c.*419T= (n.*419T=)
17g.42911380A>CCA399657701G6PC1c.1028A>C (p.Tyr343Ser)
c.*420A>C (n.*420A>C)
17g.42911380A>GCA399657702G6PC1c.1028A>G (p.Tyr343Cys)
c.*420A>G (n.*420A>G)
17g.42911380A>TCA399657703G6PC1c.1028A>T (p.Tyr343Phe)
c.*420A>T (n.*420A>T)
17g.42911381C>ACA399657704G6PC1c.1029C>A (p.Tyr343Ter)
c.*421C>A (n.*421C>A)
17g.42911381C=CA2260697515G6PC1c.1029C= (p.Tyr343=)
c.*421C= (n.*421C=)
17g.42911381C>GCA399657705G6PC1c.1029C>G (p.Tyr343Ter)
c.*421C>G (n.*421C>G)
17g.42911381C>TCA290790225G6PC1c.1029C>T (p.Tyr343=)
c.*421C>T (n.*421C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42911382T>ACA399657713G6PC1c.1030T>A (p.Cys344Ser)
c.*422T>A (n.*422T>A)
17g.42911382T>CCA399657707G6PC1c.1030T>C (p.Cys344Arg)
c.*422T>C (n.*422T>C)
17g.42911382T>GCA399657710G6PC1c.1030T>G (p.Cys344Gly)
c.*422T>G (n.*422T>G)
17g.42911383G>ACA399657716G6PC1c.1031G>A (p.Cys344Tyr)
c.*423G>A (n.*423G>A)
 gnomAD v4 COSMIC
17g.42911383G>CCA399657719G6PC1c.1031G>C (p.Cys344Ser)
c.*423G>C (n.*423G>C)
17g.42911383G>TCA399657722G6PC1c.1031G>T (p.Cys344Phe)
c.*423G>T (n.*423G>T)
17g.42911384C>ACA399657725G6PC1c.1032C>A (p.Cys344Ter)
c.*424C>A (n.*424C>A)
17g.42911384C>GCA399657728G6PC1c.1032C>G (p.Cys344Trp)
c.*424C>G (n.*424C>G)
17g.42911384C>TCA500229491G6PC1c.1032C>T (p.Cys344=)
c.*424C>T (n.*424C>T)
17g.42911385C>ACA399657731G6PC1c.1033C>A (p.Leu345Ile)
c.*425C>A (n.*425C>A)
17g.42911385C>GCA399657733G6PC1c.1033C>G (p.Leu345Val)
c.*425C>G (n.*425C>G)
17g.42911385C>TCA399657736G6PC1c.1033C>T (p.Leu345Phe)
c.*425C>T (n.*425C>T)
17g.42911386T>ACA399657740G6PC1c.1034T>A (p.Leu345His)
c.*426T>A (n.*426T>A)
17g.42911386T>CCA399657742G6PC1c.1034T>C (p.Leu345Pro)
c.*426T>C (n.*426T>C)
17g.42911386T>GCA399657745G6PC1c.1034T>G (p.Leu345Arg)
c.*426T>G (n.*426T>G)
17g.42911386_42911387delinsGACA2695226089G6PC1c.1034_1035delinsGA (p.Leu345Arg)
c.*426_*427delinsGA (n.*426_*427delinsGA)
17g.42911387C>ACA500229495G6PC1c.1035C>A (p.Leu345=)
c.*427C>A (n.*427C>A)
 ClinVar
17g.42911387C=CA2260697516G6PC1c.1035C= (p.Leu345=)
c.*427C= (n.*427C=)
17g.42911387C>GCA500229496G6PC1c.1035C>G (p.Leu345=)
c.*427C>G (n.*427C>G)
17g.42911387C>TCA8587701G6PC1c.1035C>T (p.Leu345=)
c.*427C>T (n.*427C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911388G>ACA399657754G6PC1c.1036G>A (p.Ala346Thr)
c.*428G>A (n.*428G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42911388G>CCA399657757G6PC1c.1036G>C (p.Ala346Pro)
c.*428G>C (n.*428G>C)
17g.42911388G=CA2260697517G6PC1c.1036G= (p.Ala346=)
c.*428G= (n.*428G=)
17g.42911388G>TCA399657750G6PC1c.1036G>T (p.Ala346Ser)
c.*428G>T (n.*428G>T)
17g.42911389C>ACA399657760G6PC1c.1037C>A (p.Ala346Asp)
c.*429C>A (n.*429C>A)
17g.42911389C>GCA399657765G6PC1c.1037C>G (p.Ala346Gly)
c.*429C>G (n.*429C>G)
17g.42911389C>TCA399657763G6PC1c.1037C>T (p.Ala346Val)
c.*429C>T (n.*429C>T)
 ClinVar
17g.42911390C>ACA500229500G6PC1c.1038C>A (p.Ala346=)
c.*430C>A (n.*430C>A)
17g.42911390C=CA2260697518G6PC1c.1038C= (p.Ala346=)
c.*430C= (n.*430C=)
17g.42911390C>GCA500229502G6PC1c.1038C>G (p.Ala346=)
c.*430C>G (n.*430C>G)
17g.42911390C>TCA8587702G6PC1c.1038C>T (p.Ala346=)
c.*430C>T (n.*430C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911391C>ACA399657774G6PC1c.1039C>A (p.Gln347Lys)
c.*431C>A (n.*431C>A)
17g.42911391C=CA2260697519G6PC1c.1039C= (p.Gln347=)
c.*431C= (n.*431C=)
17g.42911391C>GCA8587703G6PC1c.1039C>G (p.Gln347Glu)
c.*431C>G (n.*431C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911391C>TCA256179G6PC1c.1039C>T (p.Gln347Ter)
c.*431C>T (n.*431C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911392A=CA2260697520G6PC1c.1040A= (p.Gln347=)
c.*432A= (n.*432A=)
17g.42911392A>CCA399657780G6PC1c.1040A>C (p.Gln347Pro)
c.*432A>C (n.*432A>C)
17g.42911392A>GCA399657783G6PC1c.1040A>G (p.Gln347Arg)
c.*432A>G (n.*432A>G)
 dbSNP gnomAD v2
17g.42911392A>TCA399657786G6PC1c.1040A>T (p.Gln347Leu)
c.*432A>T (n.*432A>T)
17g.42911393G>ACA500229506G6PC1c.1041G>A (p.Gln347=)
c.*433G>A (n.*433G>A)
17g.42911393G>CCA399657789G6PC1c.1041G>C (p.Gln347His)
c.*433G>C (n.*433G>C)
17g.42911393G>TCA399657791G6PC1c.1041G>T (p.Gln347His)
c.*433G>T (n.*433G>T)
17g.42911394delCA2739267554G6PC1c.1042del (p.Val348SerfsTer19)
c.*434del (n.*434del)
 ClinVar
17g.42911394G>ACA399657793G6PC1c.1042G>A (p.Val348Ile)
c.*434G>A (n.*434G>A)
17g.42911394G>CCA399657794G6PC1c.1042G>C (p.Val348Leu)
c.*434G>C (n.*434G>C)
17g.42911394G>TCA399657796G6PC1c.1042G>T (p.Val348Phe)
c.*434G>T (n.*434G>T)
17g.42911395T>ACA399657800G6PC1c.1043T>A (p.Val348Asp)
c.*435T>A (n.*435T>A)
17g.42911395T>CCA399657804G6PC1c.1043T>C (p.Val348Ala)
c.*435T>C (n.*435T>C)
17g.42911395T>GCA399657814G6PC1c.1043T>G (p.Val348Gly)
c.*435T>G (n.*435T>G)
17g.42911396C>ACA500229513G6PC1c.1044C>A (p.Val348=)
c.*436C>A (n.*436C>A)
17g.42911396C=CA2260697521G6PC1c.1044C= (p.Val348=)
c.*436C= (n.*436C=)
17g.42911396C>GCA290790228G6PC1c.1044C>G (p.Val348=)
c.*436C>G (n.*436C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42911396C>TCA500229512G6PC1c.1044C>T (p.Val348=)
c.*436C>T (n.*436C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.42911397C>ACA399657817G6PC1c.1045C>A (p.Leu349Met)
c.*437C>A (n.*437C>A)
17g.42911397C=CA2260697522G6PC1c.1045C= (p.Leu349=)
c.*437C= (n.*437C=)
17g.42911397C>GCA399657820G6PC1c.1045C>G (p.Leu349Val)
c.*437C>G (n.*437C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42911397C>TCA500229514G6PC1c.1045C>T (p.Leu349=)
c.*437C>T (n.*437C>T)
17g.42911398T>ACA399657839G6PC1c.1046T>A (p.Leu349Gln)
c.*438T>A (n.*438T>A)
17g.42911398T>CCA399657823G6PC1c.1046T>C (p.Leu349Pro)
c.*438T>C (n.*438T>C)
17g.42911398T>GCA399657826G6PC1c.1046T>G (p.Leu349Arg)
c.*438T>G (n.*438T>G)
 dbSNP
17g.42911398T=CA2260697523G6PC1c.1046T= (p.Leu349=)
c.*438T= (n.*438T=)
17g.42911399G>ACA500229517G6PC1c.1047G>A (p.Leu349=)
c.*439G>A (n.*439G>A)
17g.42911399G>CCA500229519G6PC1c.1047G>C (p.Leu349=)
c.*439G>C (n.*439G>C)
17g.42911399G=CA2260697524G6PC1c.1047G= (p.Leu349=)
c.*439G= (n.*439G=)
17g.42911399G>TCA500229521G6PC1c.1047G>T (p.Leu349=)
c.*439G>T (n.*439G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42911400G>ACA399657842G6PC1c.1048G>A (p.Gly350Ser)
c.*440G>A (n.*440G>A)
17g.42911400G>CCA399657845G6PC1c.1048G>C (p.Gly350Arg)
c.*440G>C (n.*440G>C)
17g.42911400G>TCA399657847G6PC1c.1048G>T (p.Gly350Cys)
c.*440G>T (n.*440G>T)
17g.42911401G>ACA399657850G6PC1c.1049G>A (p.Gly350Asp)
c.*441G>A (n.*441G>A)
17g.42911401G>CCA399657852G6PC1c.1049G>C (p.Gly350Ala)
c.*441G>C (n.*441G>C)
 dbSNP gnomAD v2 gnomAD v4
17g.42911401G=CA2260697525G6PC1c.1049G= (p.Gly350=)
c.*441G= (n.*441G=)
17g.42911401G>TCA399657854G6PC1c.1049G>T (p.Gly350Val)
c.*441G>T (n.*441G>T)
17g.42911402C>ACA500229524G6PC1c.1050C>A (p.Gly350=)
c.*442C>A (n.*442C>A)
 ClinVar dbSNP
17g.42911402C>GCA500229525G6PC1c.1050C>G (p.Gly350=)
c.*442C>G (n.*442C>G)
17g.42911402C>TCA500229526G6PC1c.1050C>T (p.Gly350=)
c.*442C>T (n.*442C>T)
17g.42911403C>ACA399657858G6PC1c.1051C>A (p.Gln351Lys)
c.*443C>A (n.*443C>A)
17g.42911403C=CA2260697526G6PC1c.1051C= (p.Gln351=)
c.*443C= (n.*443C=)
17g.42911403C>GCA399657870G6PC1c.1051C>G (p.Gln351Glu)
c.*443C>G (n.*443C>G)
17g.42911403C>TCA290790232G6PC1c.1051C>T (p.Gln351Ter)
c.*443C>T (n.*443C>T)
 ClinVar dbSNP gnomAD v4
17g.42911404A>CCA399657877G6PC1c.1052A>C (p.Gln351Pro)
c.*444A>C (n.*444A>C)
17g.42911404A>GCA399657883G6PC1c.1052A>G (p.Gln351Arg)
c.*444A>G (n.*444A>G)
17g.42911404A>TCA399657885G6PC1c.1052A>T (p.Gln351Leu)
c.*444A>T (n.*444A>T)
17g.42911405G>ACA500229530G6PC1c.1053G>A (p.Gln351=)
c.*445G>A (n.*445G>A)
 dbSNP
17g.42911405G>CCA399657890G6PC1c.1053G>C (p.Gln351His)
c.*445G>C (n.*445G>C)
17g.42911405G=CA2260697527G6PC1c.1053G= (p.Gln351=)
c.*445G= (n.*445G=)
17g.42911405G>TCA399657887G6PC1c.1053G>T (p.Gln351His)
c.*445G>T (n.*445G>T)
17g.42911406C>ACA399657895G6PC1c.1054C>A (p.Pro352Thr)
c.*446C>A (n.*446C>A)
17g.42911406C>GCA399657896G6PC1c.1054C>G (p.Pro352Ala)
c.*446C>G (n.*446C>G)
17g.42911406C>TCA399657897G6PC1c.1054C>T (p.Pro352Ser)
c.*446C>T (n.*446C>T)
17g.42911407C>ACA399657900G6PC1c.1055C>A (p.Pro352Gln)
c.*447C>A (n.*447C>A)
17g.42911407C=CA2260697528G6PC1c.1055C= (p.Pro352=)
c.*447C= (n.*447C=)
17g.42911407C>GCA399657904G6PC1c.1055C>G (p.Pro352Arg)
c.*447C>G (n.*447C>G)
17g.42911407C>TCA8587704G6PC1c.1055C>T (p.Pro352Leu)
c.*447C>T (n.*447C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911408G>ACA8587705G6PC1c.1056G>A (p.Pro352=)
c.*448G>A (n.*448G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911408G>CCA500229536G6PC1c.1056G>C (p.Pro352=)
c.*448G>C (n.*448G>C)
 ClinVar
17g.42911408G=CA2260697529G6PC1c.1056G= (p.Pro352=)
c.*448G= (n.*448G=)
17g.42911408G>TCA500229538G6PC1c.1056G>T (p.Pro352=)
c.*448G>T (n.*448G>T)
 ClinVar
17g.42911409C>ACA399657921G6PC1c.1057C>A (p.His353Asn)
c.*449C>A (n.*449C>A)
17g.42911409C>GCA399657913G6PC1c.1057C>G (p.His353Asp)
c.*449C>G (n.*449C>G)
17g.42911409C>TCA399657918G6PC1c.1057C>T (p.His353Tyr)
c.*449C>T (n.*449C>T)
17g.42911410A=CA2260697530G6PC1c.1058A= (p.His353=)
c.*450A= (n.*450A=)
17g.42911410A>CCA290790246G6PC1c.1058A>C (p.His353Pro)
c.*450A>C (n.*450A>C)
 dbSNP
17g.42911410A>GCA399657923G6PC1c.1058A>G (p.His353Arg)
c.*450A>G (n.*450A>G)
17g.42911410A>TCA399657924G6PC1c.1058A>T (p.His353Leu)
c.*450A>T (n.*450A>T)
17g.42911411C>ACA399657925G6PC1c.1059C>A (p.His353Gln)
c.*451C>A (n.*451C>A)
17g.42911411C=CA2260697531G6PC1c.1059C= (p.His353=)
c.*451C= (n.*451C=)
17g.42911411C>GCA8587706G6PC1c.1059C>G (p.His353Gln)
c.*451C>G (n.*451C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911411C>TCA500229548G6PC1c.1059C>T (p.His353=)
c.*451C>T (n.*451C>T)
17g.42911412A>CCA399657928G6PC1c.1060A>C (p.Lys354Gln)
c.*452A>C (n.*452A>C)
17g.42911412A>GCA399657932G6PC1c.1060A>G (p.Lys354Glu)
c.*452A>G (n.*452A>G)
17g.42911412A>TCA399657930G6PC1c.1060A>T (p.Lys354Ter)
c.*452A>T (n.*452A>T)
17g.42911413A=CA2260697532G6PC1c.1061A= (p.Lys354=)
c.*453A= (n.*453A=)
17g.42911413A>CCA399657933G6PC1c.1061A>C (p.Lys354Thr)
c.*453A>C (n.*453A>C)
17g.42911413A>GCA399657935G6PC1c.1061A>G (p.Lys354Arg)
c.*453A>G (n.*453A>G)
 dbSNP gnomAD v4
17g.42911413A>TCA399657937G6PC1c.1061A>T (p.Lys354Met)
c.*453A>T (n.*453A>T)
17g.42911414G>ACA500229551G6PC1c.1062G>A (p.Lys354=)
c.*454G>A (n.*454G>A)
 COSMIC
17g.42911414G>CCA399657938G6PC1c.1062G>C (p.Lys354Asn)
c.*454G>C (n.*454G>C)
17g.42911414G>TCA399657939G6PC1c.1062G>T (p.Lys354Asn)
c.*454G>T (n.*454G>T)
 COSMIC
17g.42911415A=CA2260697533G6PC1c.1063A= (p.Lys355=)
c.*455A= (n.*455A=)
17g.42911415A>CCA399657940G6PC1c.1063A>C (p.Lys355Gln)
c.*455A>C (n.*455A>C)
17g.42911415A>GCA8587707G6PC1c.1063A>G (p.Lys355Glu)
c.*455A>G (n.*455A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911415A>TCA399657942G6PC1c.1063A>T (p.Lys355Ter)
c.*455A>T (n.*455A>T)
17g.42911416A=CA2260697534G6PC1c.1064A= (p.Lys355=)
c.*456A= (n.*456A=)
17g.42911416A>CCA399657944G6PC1c.1064A>C (p.Lys355Thr)
c.*456A>C (n.*456A>C)
17g.42911416A>GCA8587708G6PC1c.1064A>G (p.Lys355Arg)
c.*456A>G (n.*456A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911416A>TCA399657947G6PC1c.1064A>T (p.Lys355Met)
c.*456A>T (n.*456A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42911417G>ACA8587709G6PC1c.1065G>A (p.Lys355=)
c.*457G>A (n.*457G>A)
 dbSNP ExAC gnomAD v2
17g.42911417G>CCA399657950G6PC1c.1065G>C (p.Lys355Asn)
c.*457G>C (n.*457G>C)
17g.42911417G=CA2260697535G6PC1c.1065G= (p.Lys355=)
c.*457G= (n.*457G=)
17g.42911417G>TCA8587710G6PC1c.1065G>T (p.Lys355Asn)
c.*457G>T (n.*457G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911419_42911421delCA2638041781G6PC1c.1067_1069del (p.Ser356del)
c.*459_*461del (n.*459_*461del)
 gnomAD v4
17g.42911418T>ACA399657952G6PC1c.1066T>A (p.Ser356Thr)
c.*458T>A (n.*458T>A)
17g.42911418T>CCA399657955G6PC1c.1066T>C (p.Ser356Pro)
c.*458T>C (n.*458T>C)
 ClinVar
17g.42911418T>GCA399657953G6PC1c.1066T>G (p.Ser356Ala)
c.*458T>G (n.*458T>G)
17g.42911419C>ACA399657957G6PC1c.1067C>A (p.Ser356Ter)
c.*459C>A (n.*459C>A)
 ClinVar dbSNP gnomAD v4
17g.42911419C=CA2260697538G6PC1c.1067C= (p.Ser356=)
c.*459C= (n.*459C=)
17g.42911419C>GCA399657958G6PC1c.1067C>G (p.Ser356Trp)
c.*459C>G (n.*459C>G)
17g.42911419C>TCA399657959G6PC1c.1067C>T (p.Ser356Leu)
c.*459C>T (n.*459C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.42911419_42911420delinsCGCA2260697536G6PC1c.1067_1068delinsCG (p.Ser356=)
c.*459_*460delinsCG (n.*459_*460delinsCG)
17g.42911419_42911422delinsCGTTCA2260697537G6PC1c.1067_1070delinsCGTT (p.Ser356=)
c.*459_*462delinsCGTT (n.*459_*462delinsCGTT)
17g.42911420delCA626220916G6PC1c.1068del (p.Leu357CysfsTer10)
c.*460del (n.*460del)
 dbSNP gnomAD v2 gnomAD v4
17g.42911420G>ACA8587712G6PC1c.1068G>A (p.Ser356=)
c.*460G>A (n.*460G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911420G>CCA500229561G6PC1c.1068G>C (p.Ser356=)
c.*460G>C (n.*460G>C)
 gnomAD v4
17g.42911420G=CA2260697539G6PC1c.1068G= (p.Ser356=)
c.*460G= (n.*460G=)
17g.42911420G>TCA500229562G6PC1c.1068G>T (p.Ser356=)
c.*460G>T (n.*460G>T)
 gnomAD v4
17g.42911422_42911424delCA8587711G6PC1c.1070_1072del (p.Leu357Ter)
c.*462_*464del (n.*462_*464del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911421T>ACA399657961G6PC1c.1069T>A (p.Leu357Met)
c.*461T>A (n.*461T>A)
17g.42911421T>CCA500229564G6PC1c.1069T>C (p.Leu357=)
c.*461T>C (n.*461T>C)
 gnomAD v4
17g.42911421T>GCA399657962G6PC1c.1069T>G (p.Leu357Val)
c.*461T>G (n.*461T>G)
17g.42911422T>ACA399657963G6PC1c.1070T>A (p.Leu357Ter)
c.*462T>A (n.*462T>A)
17g.42911422T>CCA399657964G6PC1c.1070T>C (p.Leu357Ser)
c.*462T>C (n.*462T>C)
 gnomAD v4
17g.42911422T>GCA399657966G6PC1c.1070T>G (p.Leu357Trp)
c.*462T>G (n.*462T>G)
17g.42911423G>ACA500229567G6PC1c.1071G>A (p.Leu357=)
c.*463G>A (n.*463G>A)
17g.42911423G>CCA399657968G6PC1c.1071G>C (p.Leu357Phe)
c.*463G>C (n.*463G>C)
 COSMIC
17g.42911423G=CA2260697540G6PC1c.1071G= (p.Leu357=)
c.*463G= (n.*463G=)
17g.42911423G>TCA399657969G6PC1c.1071G>T (p.Leu357Phe)
c.*463G>T (n.*463G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.42911424T>ACA399657975G6PC1c.1072T>A (p.Ter358Lys)
c.*464T>A (n.*464T>A)
17g.42911424T>CCA399657971G6PC1c.1072T>C (p.Ter358Gln)
c.*464T>C (n.*464T>C)
17g.42911424T>GCA399657973G6PC1c.1072T>G (p.Ter358Glu)
c.*464T>G (n.*464T>G)
17g.42911425A>CCA399657979G6PC1c.1073A>C (p.Ter358Ser)
c.*465A>C (n.*465A>C)
17g.42911425A>GCA500229571G6PC1c.1073A>G (p.Ter358=)
c.*465A>G (n.*465A>G)
 gnomAD v4
17g.42911425A>TCA399657980G6PC1c.1073A>T (p.Ter358Leu)
c.*465A>T (n.*465A>T)
17g.42911426A>CCA399657982G6PC1c.1074A>C (p.Ter358Tyr)
c.*466A>C (n.*466A>C)
17g.42911426A>GCA500229578G6PC1c.1074A>G (p.Ter358=)
c.*466A>G (n.*466A>G)
17g.42911426A>TCA399657983G6PC1c.1074A>T (p.Ter358Tyr)
c.*466A>T (n.*466A>T)
17g.42911427G>CCA626220917G6PC1c.*1G>C (n.*1G>C)
c.*467G>C (n.*467G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42911427G=CA2260697541G6PC1c.*1G= (n.*1G=)
c.*467G= (n.*467G=)
17g.42911427G>TCA772150999G6PC1c.*1G>T (n.*1G>T)
c.*467G>T (n.*467G>T)
 dbSNP gnomAD v3 gnomAD v4
17g.42911428A>TCA2594127724G6PC1c.*2A>T (n.*2A>T)
c.*468A>T (n.*468A>T)
 dbSNP gnomAD v3 gnomAD v4
17g.42911429G>ACA290967G6PC1c.*3G>A (n.*3G>A)
c.*469G>A (n.*469G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911429G=CA2260697542G6PC1c.*3G= (n.*3G=)
c.*469G= (n.*469G=)
17g.42911429G>TCA2260697543G6PC1c.*3G>T (n.*3G>T)
c.*469G>T (n.*469G>T)
 dbSNP
17g.42911432G>ACA2260697545G6PC1c.*6G>A (n.*6G>A)
c.*472G>A (n.*472G>A)
 dbSNP gnomAD v4
17g.42911432G=CA2260697544G6PC1c.*6G= (n.*6G=)
c.*472G= (n.*472G=)
17g.42911435G=CA2260697546G6PC1c.*9G= (n.*9G=)
c.*475G= (n.*475G=)
17g.42911435G>TCA8587713G6PC1c.*9G>T (n.*9G>T)
c.*475G>T (n.*475G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911436A=CA2260697547G6PC1c.*10A= (n.*10A=)
c.*476A= (n.*476A=)
17g.42911436A>GCA626220918G6PC1c.*10A>G (n.*10A>G)
c.*476A>G (n.*476A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.42911436A>TCA2638041830G6PC1c.*10A>T (n.*10A>T)
c.*476A>T (n.*476A>T)
 gnomAD v4
17g.42911437G>ACA8587714G6PC1c.*11G>A (n.*11G>A)
c.*477G>A (n.*477G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911437G>CCA2638041836G6PC1c.*11G>C (n.*11G>C)
c.*477G>C (n.*477G>C)
 gnomAD v4
17g.42911437G=CA2260697548G6PC1c.*11G= (n.*11G=)
c.*477G= (n.*477G=)
17g.42911437_42911438insACA983871873G6PC1c.*11_*12insA (n.*11_*12insA)
c.*477_*478insA (n.*477_*478insA)
 gnomAD v3 gnomAD v4
17g.42911438T>CCA2576281045G6PC1c.*12T>C (n.*12T>C)
c.*478T>C (n.*478T>C)
17g.42911439C=CA2260697549G6PC1c.*13C= (n.*13C=)
c.*479C= (n.*479C=)
17g.42911439C>GCA8587715G6PC1c.*13C>G (n.*13C>G)
c.*479C>G (n.*479C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911439C>TCA2576281046G6PC1c.*13C>T (n.*13C>T)
c.*479C>T (n.*479C>T)
 gnomAD v4
17g.42911441delCA983871874G6PC1c.*15del (n.*15del)
c.*481del (n.*481del)
 gnomAD v3 gnomAD v4
17g.42911441T>GCA983871878G6PC1c.*15T>G (n.*15T>G)
c.*481T>G (n.*481T>G)
 dbSNP gnomAD v3 gnomAD v4
17g.42911441T=CA2260697550G6PC1c.*15T= (n.*15T=)
c.*481T= (n.*481T=)
17g.42911442C=CA2260697551G6PC1c.*16C= (n.*16C=)
c.*482C= (n.*482C=)
17g.42911442C>TCA8587716G6PC1c.*16C>T (n.*16C>T)
c.*482C>T (n.*482C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911443G>ACA8587717G6PC1c.*17G>A (n.*17G>A)
c.*483G>A (n.*483G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911443G>CCA2638041854G6PC1c.*17G>C (n.*17G>C)
c.*483G>C (n.*483G>C)
 gnomAD v4
17g.42911443G=CA2260697552G6PC1c.*17G= (n.*17G=)
c.*483G= (n.*483G=)
17g.42911444G>CCA772151001G6PC1c.*18G>C (n.*18G>C)
c.*484G>C (n.*484G>C)
 dbSNP
17g.42911444G=CA2260697554G6PC1c.*18G= (n.*18G=)
c.*484G= (n.*484G=)
17g.42911444G>TCA2260697553G6PC1c.*18G>T (n.*18G>T)
c.*484G>T (n.*484G>T)
 dbSNP gnomAD v4
17g.42911445T>CCA2594127726G6PC1c.*19T>C (n.*19T>C)
c.*485T>C (n.*485T>C)
 dbSNP gnomAD v3 gnomAD v4
17g.42911446G>TCA2638041858G6PC1c.*20G>T (n.*20G>T)
c.*486G>T (n.*486G>T)
 gnomAD v4
17g.42911446dupCA983871882G6PC1c.*20dup (n.*20dup)
c.*486dup (n.*486dup)
 gnomAD v3 gnomAD v4
17g.42911447_42911448insCGCCGTATCACA983871883G6PC1c.*21_*22insCGCCGTATCA (n.*21_*22insCGCCGTATCA)
c.*487_*488insCGCCGTATCA (n.*487_*488insCGCCGTATCA)
 gnomAD v3 gnomAD v4
17g.42911449T>ACA2260697556G6PC1c.*23T>A (n.*23T>A)
c.*489T>A (n.*489T>A)
 dbSNP gnomAD v4
17g.42911449T>CCA8587718G6PC1c.*23T>C (n.*23T>C)
c.*489T>C (n.*489T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911449T>GCA2260697557G6PC1c.*23T>G (n.*23T>G)
c.*489T>G (n.*489T>G)
 dbSNP gnomAD v4
17g.42911449T=CA2260697555G6PC1c.*23T= (n.*23T=)
c.*489T= (n.*489T=)
17g.42911449_42911450insCCA656361862G6PC1c.*23_*24insC (n.*23_*24insC)
c.*489_*490insC (n.*489_*490insC)
17g.42911450A=CA2260697558G6PC1c.*24A= (n.*24A=)
c.*490A= (n.*490A=)
17g.42911450A>CCA8587719G6PC1c.*24A>C (n.*24A>C)
c.*490A>C (n.*490A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911452A=CA2260697559G6PC1c.*26A= (n.*26A=)
c.*492A= (n.*492A=)
17g.42911452A>GCA8587720G6PC1c.*26A>G (n.*26A>G)
c.*492A>G (n.*492A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911453_42911455delCA983871895G6PC1c.*27_*29del (n.*27_*29del)
c.*493_*495del (n.*493_*495del)
 gnomAD v3 gnomAD v4
17g.42911455C>ACA2638041873G6PC1c.*29C>A (n.*29C>A)
c.*495C>A (n.*495C>A)
 gnomAD v4
17g.42911455C=CA2260697560G6PC1c.*29C= (n.*29C=)
c.*495C= (n.*495C=)
17g.42911455C>TCA626220919G6PC1c.*29C>T (n.*29C>T)
c.*495C>T (n.*495C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.42911457A>GCA2638041877G6PC1c.*31A>G (n.*31A>G)
c.*497A>G (n.*497A>G)
 gnomAD v4
17g.42911458delCA983871900G6PC1c.*32del (n.*32del)
c.*498del (n.*498del)
 gnomAD v3 gnomAD v4
17g.42911458C>ACA8587721G6PC1c.*32C>A (n.*32C>A)
c.*498C>A (n.*498C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911458C=CA2260697561G6PC1c.*32C= (n.*32C=)
c.*498C= (n.*498C=)
17g.42911460A=CA2260697562G6PC1c.*34A= (n.*34A=)
c.*500A= (n.*500A=)
17g.42911460A>GCA8587722G6PC1c.*34A>G (n.*34A>G)
c.*500A>G (n.*500A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911460A>TCA2638041887G6PC1c.*34A>T (n.*34A>T)
c.*500A>T (n.*500A>T)
 gnomAD v4
17g.42911460_42911466delCA983871924G6PC1c.*34_*40del (n.*34_*40del)
c.*500_*506del (n.*500_*506del)
 gnomAD v3 gnomAD v4
17g.42911461C>ACA626220920G6PC1c.*35C>A (n.*35C>A)
c.*501C>A (n.*501C>A)
 dbSNP gnomAD v2 gnomAD v4
17g.42911461C=CA2260697563G6PC1c.*35C= (n.*35C=)
c.*501C= (n.*501C=)
17g.42911462C>ACA2638041892G6PC1c.*36C>A (n.*36C>A)
c.*502C>A (n.*502C>A)
 gnomAD v4
17g.42911462C=CA2260697564G6PC1c.*36C= (n.*36C=)
c.*502C= (n.*502C=)
17g.42911462C>GCA2638041894G6PC1c.*36C>G (n.*36C>G)
c.*502C>G (n.*502C>G)
 gnomAD v4
17g.42911462C>TCA8587723G6PC1c.*36C>T (n.*36C>T)
c.*502C>T (n.*502C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911463A=CA2260697565G6PC1c.*37A= (n.*37A=)
c.*503A= (n.*503A=)
17g.42911463A>TCA8587724G6PC1c.*37A>T (n.*37A>T)
c.*503A>T (n.*503A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched