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.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
17g.42911468A>GCA2809535967G6PC1c.*42A>G (n.*42A>G)
c.*508A>G (n.*508A>G)
17g.42911469G>ACA2260697567G6PC1c.*43G>A (n.*43G>A)
c.*509G>A (n.*509G>A)
dbSNP gnomAD v4
17g.42911469G=CA2260697566G6PC1c.*43G= (n.*43G=)
c.*509G= (n.*509G=)
17g.42911469G>TCA2546072052G6PC1c.*43G>T (n.*43G>T)
c.*509G>T (n.*509G>T)
gnomAD v4
17g.42911470G>ACA2576281047G6PC1c.*44G>A (n.*44G>A)
c.*510G>A (n.*510G>A)
dbSNP gnomAD v4
17g.42911470G=CA2260697568G6PC1c.*44G= (n.*44G=)
c.*510G= (n.*510G=)
17g.42911470G>TCA772151005G6PC1c.*44G>T (n.*44G>T)
c.*510G>T (n.*510G>T)
dbSNP gnomAD v3 gnomAD v4
17g.42911471G>ACA2638041907G6PC1c.*45G>A (n.*45G>A)
c.*511G>A (n.*511G>A)
gnomAD v4
17g.42911471G=CA2260697569G6PC1c.*45G= (n.*45G=)
c.*511G= (n.*511G=)
17g.42911471G>TCA8587725G6PC1c.*45G>T (n.*45G>T)
c.*511G>T (n.*511G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911472A=CA2260697570G6PC1c.*46A= (n.*46A=)
c.*512A= (n.*512A=)
17g.42911472A>TCA2260697571G6PC1c.*46A>T (n.*46A>T)
c.*512A>T (n.*512A>T)
dbSNP gnomAD v4
17g.42911474_42911477delinsTGAGCA2260697572G6PC1c.*48_*51delinsTGAG (n.*48_*51delinsTGAG)
c.*514_*517delinsTGAG (n.*514_*517delinsTGAG)
17g.42911480_42911482delCA8587726G6PC1c.*54_*56del (n.*54_*56del)
c.*520_*522del (n.*520_*522del)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.42911477G>CCA2638041914G6PC1c.*51G>C (n.*51G>C)
c.*517G>C (n.*517G>C)
gnomAD v4
17g.42911478G>ACA2638041916G6PC1c.*52G>A (n.*52G>A)
c.*518G>A (n.*518G>A)
gnomAD v4
17g.42911478G>CCA8587727G6PC1c.*52G>C (n.*52G>C)
c.*518G>C (n.*518G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42911478G=CA2260697573G6PC1c.*52G= (n.*52G=)
c.*518G= (n.*518G=)
17g.42911478G>TCA2638041918G6PC1c.*52G>T (n.*52G>T)
c.*518G>T (n.*518G>T)
gnomAD v4
17g.42911479A>GCA2638041921G6PC1c.*53A>G (n.*53A>G)
c.*519A>G (n.*519A>G)
gnomAD v4
17g.42911480G>TCA2638041922G6PC1c.*54G>T (n.*54G>T)
c.*520G>T (n.*520G>T)
gnomAD v4
17g.42911481G>TCA2576281048G6PC1c.*55G>T (n.*55G>T)
c.*521G>T (n.*521G>T)
gnomAD v4
17g.42911486_42911488delCA2576281049G6PC1c.*60_*62del (n.*60_*62del)
c.*526_*528del (n.*526_*528del)
gnomAD v4
17g.42911483C>TCA2576281050G6PC1c.*57C>T (n.*57C>T)
c.*523C>T (n.*523C>T)
17g.42911483_42911484insCTCCTGGCGGGAAACTTGCATATGGTGTACGTGACA2809535968G6PC1c.*57_*58insCTCCTGGCGGGAAACTTGCATATGGTGTACGTGA (n.*57_*58insCTCCTGGCGGGAAACTTGCATATGGTGTACGTGA)
c.*523_*524insCTCCTGGCGGGAAACTTGCATATGGTGTACGTGA (n.*523_*524insCTCCTGGCGGGAAACTTGCATATGGTGTACGTGA)
17g.42911485A>GCA2576281051G6PC1c.*59A>G (n.*59A>G)
c.*525A>G (n.*525A>G)
gnomAD v4
17g.42911486C=CA2260697574G6PC1c.*60C= (n.*60C=)
c.*526C= (n.*526C=)
17g.42911486C>GCA983871930G6PC1c.*60C>G (n.*60C>G)
c.*526C>G (n.*526C>G)
dbSNP gnomAD v3 gnomAD v4
17g.42911489T>CCA2638041928G6PC1c.*63T>C (n.*63T>C)
c.*529T>C (n.*529T>C)
gnomAD v4
17g.42911490T>GCA772151006G6PC1c.*64T>G (n.*64T>G)
c.*530T>G (n.*530T>G)
dbSNP gnomAD v3 gnomAD v4
17g.42911490T=CA2260697575G6PC1c.*64T= (n.*64T=)
c.*530T= (n.*530T=)
17g.42911491T>GCA2260697577G6PC1c.*65T>G (n.*65T>G)
c.*531T>G (n.*531T>G)
dbSNP
17g.42911491T=CA2260697576G6PC1c.*65T= (n.*65T=)
c.*531T= (n.*531T=)
17g.42911492G>TCA2638041932G6PC1c.*66G>T (n.*66G>T)
c.*532G>T (n.*532G>T)
gnomAD v4
17g.42911495G>TCA2638041934G6PC1c.*69G>T (n.*69G>T)
c.*535G>T (n.*535G>T)
gnomAD v4
17g.42911496C>ACA2638041936G6PC1c.*70C>A (n.*70C>A)
c.*536C>A (n.*536C>A)
gnomAD v4
17g.42911496C=CA2260697578G6PC1c.*70C= (n.*70C=)
c.*536C= (n.*536C=)
17g.42911496C>GCA983871934G6PC1c.*70C>G (n.*70C>G)
c.*536C>G (n.*536C>G)
dbSNP gnomAD v3 gnomAD v4
17g.42911496C>TCA626220921G6PC1c.*70C>T (n.*70C>T)
c.*536C>T (n.*536C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched