Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21575774_21575786delinsCAGGCCCTGCATGCA1158019293ALPLc.1039_1051delinsCAGGCCCTGCATG (p.Gln347=)
n.308_320delinsCAGGCCCTGCATG
c.114_126delinsCAGGCCCTGCATG
c.808_820delinsCAGGCCCTGCATG (p.Gln270=)
c.874_886delinsCAGGCCCTGCATG (p.Gln292=)
c.883_895delinsCAGGCCCTGCATG (p.Gln295=)
1g.21575779_21575790delCA666722ALPLc.1044_1055del (p.Leu349_Ala352del)
n.313_324del
c.119_130del
c.813_824del (p.Leu272_Ala275del)
c.879_890del (p.Leu294_Ala297del)
c.888_899del (p.Leu297_Ala300del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21575777G>ACA338881075ALPLc.1042G>A (p.Ala348Thr)
n.311G>A
c.117G>A
c.811G>A (p.Ala271Thr)
c.877G>A (p.Ala293Thr)
c.886G>A (p.Ala296Thr)
 ClinVar dbSNP
1g.21575777G>CCA338881072ALPLc.1042G>C (p.Ala348Pro)
n.311G>C
c.117G>C
c.811G>C (p.Ala271Pro)
c.877G>C (p.Ala293Pro)
c.886G>C (p.Ala296Pro)
1g.21575777G=CA1158019295ALPLc.1042G= (p.Ala348=)
n.311G=
c.117G=
c.811G= (p.Ala271=)
c.877G= (p.Ala293=)
c.886G= (p.Ala296=)
1g.21575777G>TCA338881073ALPLc.1042G>T (p.Ala348Ser)
n.311G>T
c.117G>T
c.811G>T (p.Ala271Ser)
c.877G>T (p.Ala293Ser)
c.886G>T (p.Ala296Ser)
1g.21575778C>ACA338881077ALPLc.1043C>A (p.Ala348Asp)
n.312C>A
c.118C>A
c.812C>A (p.Ala271Asp)
c.878C>A (p.Ala293Asp)
c.887C>A (p.Ala296Asp)
1g.21575778C>GCA338881078ALPLc.1043C>G (p.Ala348Gly)
n.312C>G
c.118C>G
c.812C>G (p.Ala271Gly)
c.878C>G (p.Ala293Gly)
c.887C>G (p.Ala296Gly)
1g.21575778C>TCA338881079ALPLc.1043C>T (p.Ala348Val)
n.312C>T
c.118C>T
c.812C>T (p.Ala271Val)
c.878C>T (p.Ala293Val)
c.887C>T (p.Ala296Val)
1g.21575779C>ACA416532957ALPLc.1044C>A (p.Ala348=)
n.313C>A
c.119C>A
c.813C>A (p.Ala271=)
c.879C>A (p.Ala293=)
c.888C>A (p.Ala296=)
 COSMIC
1g.21575779C>GCA416532959ALPLc.1044C>G (p.Ala348=)
n.313C>G
c.119C>G
c.813C>G (p.Ala271=)
c.879C>G (p.Ala293=)
c.888C>G (p.Ala296=)
1g.21575779C>TCA416532955ALPLc.1044C>T (p.Ala348=)
n.313C>T
c.119C>T
c.813C>T (p.Ala271=)
c.879C>T (p.Ala293=)
c.888C>T (p.Ala296=)
1g.21575780C>ACA338881081ALPLc.1045C>A (p.Leu349Met)
n.314C>A
c.120C>A
c.814C>A (p.Leu272Met)
c.880C>A (p.Leu294Met)
c.889C>A (p.Leu297Met)
1g.21575780C=CA1158019296ALPLc.1045C= (p.Leu349=)
n.314C=
c.120C=
c.814C= (p.Leu272=)
c.880C= (p.Leu294=)
c.889C= (p.Leu297=)
1g.21575780C>GCA338881082ALPLc.1045C>G (p.Leu349Val)
n.314C>G
c.120C>G
c.814C>G (p.Leu272Val)
c.880C>G (p.Leu294Val)
c.889C>G (p.Leu297Val)
1g.21575780C>TCA416532964ALPLc.1045C>T (p.Leu349=)
n.314C>T
c.120C>T
c.814C>T (p.Leu272=)
c.880C>T (p.Leu294=)
c.889C>T (p.Leu297=)
 ClinVar dbSNP
1g.21575781T>ACA338881087ALPLc.1046T>A (p.Leu349Gln)
n.315T>A
c.121T>A
c.815T>A (p.Leu272Gln)
c.881T>A (p.Leu294Gln)
c.890T>A (p.Leu297Gln)
1g.21575781T>CCA338881084ALPLc.1046T>C (p.Leu349Pro)
n.315T>C
c.121T>C
c.815T>C (p.Leu272Pro)
c.881T>C (p.Leu294Pro)
c.890T>C (p.Leu297Pro)
1g.21575781T>GCA338881086ALPLc.1046T>G (p.Leu349Arg)
n.315T>G
c.121T>G
c.815T>G (p.Leu272Arg)
c.881T>G (p.Leu294Arg)
c.890T>G (p.Leu297Arg)
1g.21575782G>ACA416532971ALPLc.1047G>A (p.Leu349=)
n.316G>A
c.122G>A
c.816G>A (p.Leu272=)
c.882G>A (p.Leu294=)
c.891G>A (p.Leu297=)
1g.21575782G>CCA416532970ALPLc.1047G>C (p.Leu349=)
n.316G>C
c.122G>C
c.816G>C (p.Leu272=)
c.882G>C (p.Leu294=)
c.891G>C (p.Leu297=)
1g.21575782G=CA1158019297ALPLc.1047G= (p.Leu349=)
n.316G=
c.122G=
c.816G= (p.Leu272=)
c.882G= (p.Leu294=)
c.891G= (p.Leu297=)
1g.21575782G>TCA666723ALPLc.1047G>T (p.Leu349=)
n.316G>T
c.122G>T
c.816G>T (p.Leu272=)
c.882G>T (p.Leu294=)
c.891G>T (p.Leu297=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575783C>ACA338881090ALPLc.1048C>A (p.His350Asn)
n.317C>A
c.123C>A
c.817C>A (p.His273Asn)
c.883C>A (p.His295Asn)
c.892C>A (p.His298Asn)
1g.21575783C>GCA338881092ALPLc.1048C>G (p.His350Asp)
n.317C>G
c.123C>G
c.817C>G (p.His273Asp)
c.883C>G (p.His295Asp)
c.892C>G (p.His298Asp)
1g.21575783C>TCA338881093ALPLc.1048C>T (p.His350Tyr)
n.317C>T
c.123C>T
c.817C>T (p.His273Tyr)
c.883C>T (p.His295Tyr)
c.892C>T (p.His298Tyr)
 gnomAD v4
1g.21575784A>CCA338881096ALPLc.1049A>C (p.His350Pro)
n.318A>C
c.124A>C
c.818A>C (p.His273Pro)
c.884A>C (p.His295Pro)
c.893A>C (p.His298Pro)
1g.21575784A>GCA338881098ALPLc.1049A>G (p.His350Arg)
n.318A>G
c.124A>G
c.818A>G (p.His273Arg)
c.884A>G (p.His295Arg)
c.893A>G (p.His298Arg)
 gnomAD v4
1g.21575784A>TCA338881099ALPLc.1049A>T (p.His350Leu)
n.318A>T
c.124A>T
c.818A>T (p.His273Leu)
c.884A>T (p.His295Leu)
c.893A>T (p.His298Leu)
1g.21575785T>ACA338881101ALPLc.1050T>A (p.His350Gln)
n.319T>A
c.125T>A
c.819T>A (p.His273Gln)
c.885T>A (p.His295Gln)
c.894T>A (p.His298Gln)
1g.21575785T>CCA416532983ALPLc.1050T>C (p.His350=)
n.319T>C
c.125T>C
c.819T>C (p.His273=)
c.885T>C (p.His295=)
c.894T>C (p.His298=)
1g.21575785T>GCA338881103ALPLc.1050T>G (p.His350Gln)
n.319T>G
c.125T>G
c.819T>G (p.His273Gln)
c.885T>G (p.His295Gln)
c.894T>G (p.His298Gln)
1g.21575786G>ACA338881105ALPLc.1051G>A (p.Glu351Lys)
n.320G>A
c.126G>A
c.820G>A (p.Glu274Lys)
c.886G>A (p.Glu296Lys)
c.895G>A (p.Glu299Lys)
 gnomAD v4
1g.21575786G>CCA338881106ALPLc.1051G>C (p.Glu351Gln)
n.320G>C
c.126G>C
c.820G>C (p.Glu274Gln)
c.886G>C (p.Glu296Gln)
c.895G>C (p.Glu299Gln)
1g.21575786G>TCA338881108ALPLc.1051G>T (p.Glu351Ter)
n.320G>T
c.126G>T
c.820G>T (p.Glu274Ter)
c.886G>T (p.Glu296Ter)
c.895G>T (p.Glu299Ter)
 ClinVar
1g.21575787A>CCA338881109ALPLc.1052A>C (p.Glu351Ala)
n.321A>C
c.127A>C
c.821A>C (p.Glu274Ala)
c.887A>C (p.Glu296Ala)
c.896A>C (p.Glu299Ala)
1g.21575787A>GCA338881112ALPLc.1052A>G (p.Glu351Gly)
n.321A>G
c.127A>G
c.821A>G (p.Glu274Gly)
c.887A>G (p.Glu296Gly)
c.896A>G (p.Glu299Gly)
1g.21575787A>TCA338881110ALPLc.1052A>T (p.Glu351Val)
n.321A>T
c.127A>T
c.821A>T (p.Glu274Val)
c.887A>T (p.Glu296Val)
c.896A>T (p.Glu299Val)
1g.21575788G>ACA416532993ALPLc.1053G>A (p.Glu351=)
n.322G>A
c.128G>A
c.822G>A (p.Glu274=)
c.888G>A (p.Glu296=)
c.897G>A (p.Glu299=)
 gnomAD v4
1g.21575788G>CCA338881114ALPLc.1053G>C (p.Glu351Asp)
n.322G>C
c.128G>C
c.822G>C (p.Glu274Asp)
c.888G>C (p.Glu296Asp)
c.897G>C (p.Glu299Asp)
 ClinVar gnomAD v4
1g.21575788G>TCA338881116ALPLc.1053G>T (p.Glu351Asp)
n.322G>T
c.128G>T
c.822G>T (p.Glu274Asp)
c.888G>T (p.Glu296Asp)
c.897G>T (p.Glu299Asp)
1g.21575789G>ACA338881117ALPLc.1054G>A (p.Ala352Thr)
n.323G>A
c.129G>A
c.823G>A (p.Ala275Thr)
c.889G>A (p.Ala297Thr)
c.898G>A (p.Ala300Thr)
1g.21575789G>CCA338881119ALPLc.1054G>C (p.Ala352Pro)
n.323G>C
c.129G>C
c.823G>C (p.Ala275Pro)
c.889G>C (p.Ala297Pro)
c.898G>C (p.Ala300Pro)
1g.21575789G>TCA338881120ALPLc.1054G>T (p.Ala352Ser)
n.323G>T
c.129G>T
c.823G>T (p.Ala275Ser)
c.889G>T (p.Ala297Ser)
c.898G>T (p.Ala300Ser)
1g.21575790C>ACA338881122ALPLc.1055C>A (p.Ala352Glu)
n.324C>A
c.130C>A
c.824C>A (p.Ala275Glu)
c.890C>A (p.Ala297Glu)
c.899C>A (p.Ala300Glu)
1g.21575790C=CA1158019298ALPLc.1055C= (p.Ala352=)
n.324C=
c.130C=
c.824C= (p.Ala275=)
c.890C= (p.Ala297=)
c.899C= (p.Ala300=)
1g.21575790C>GCA338881124ALPLc.1055C>G (p.Ala352Gly)
n.324C>G
c.130C>G
c.824C>G (p.Ala275Gly)
c.890C>G (p.Ala297Gly)
c.899C>G (p.Ala300Gly)
1g.21575790C>TCA338881126ALPLc.1055C>T (p.Ala352Val)
n.324C>T
c.130C>T
c.824C>T (p.Ala275Val)
c.890C>T (p.Ala297Val)
c.899C>T (p.Ala300Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21575791G>ACA666724ALPLc.1056G>A (p.Ala352=)
n.325G>A
c.131G>A
c.825G>A (p.Ala275=)
c.891G>A (p.Ala297=)
c.900G>A (p.Ala300=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575791G>CCA416533007ALPLc.1056G>C (p.Ala352=)
n.325G>C
c.131G>C
c.825G>C (p.Ala275=)
c.891G>C (p.Ala297=)
c.900G>C (p.Ala300=)
1g.21575791G=CA1158019299ALPLc.1056G= (p.Ala352=)
n.325G=
c.131G=
c.825G= (p.Ala275=)
c.891G= (p.Ala297=)
c.900G= (p.Ala300=)
1g.21575791G>TCA666725ALPLc.1056G>T (p.Ala352=)
n.325G>T
c.131G>T
c.825G>T (p.Ala275=)
c.891G>T (p.Ala297=)
c.900G>T (p.Ala300=)
 ClinVar dbSNP ExAC gnomAD v2
1g.21575792G>ACA338881129ALPLc.1057G>A (p.Val353Met)
n.326G>A
c.132G>A
c.826G>A (p.Val276Met)
c.892G>A (p.Val298Met)
c.901G>A (p.Val301Met)
1g.21575792G>CCA338881131ALPLc.1057G>C (p.Val353Leu)
n.326G>C
c.132G>C
c.826G>C (p.Val276Leu)
c.892G>C (p.Val298Leu)
c.901G>C (p.Val301Leu)
1g.21575792G>TCA338881132ALPLc.1057G>T (p.Val353Leu)
n.326G>T
c.132G>T
c.826G>T (p.Val276Leu)
c.892G>T (p.Val298Leu)
c.901G>T (p.Val301Leu)
1g.21575793T>ACA338881133ALPLc.1058T>A (p.Val353Glu)
n.327T>A
c.133T>A
c.827T>A (p.Val276Glu)
c.893T>A (p.Val298Glu)
c.902T>A (p.Val301Glu)
1g.21575793T>CCA338881137ALPLc.1058T>C (p.Val353Ala)
n.327T>C
c.133T>C
c.827T>C (p.Val276Ala)
c.893T>C (p.Val298Ala)
c.902T>C (p.Val301Ala)
1g.21575793T>GCA338881135ALPLc.1058T>G (p.Val353Gly)
n.327T>G
c.133T>G
c.827T>G (p.Val276Gly)
c.893T>G (p.Val298Gly)
c.902T>G (p.Val301Gly)
1g.21575794G>ACA416533018ALPLc.1059G>A (p.Val353=)
n.328G>A
c.134G>A
c.828G>A (p.Val276=)
c.894G>A (p.Val298=)
c.903G>A (p.Val301=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21575794G>CCA416533019ALPLc.1059G>C (p.Val353=)
n.328G>C
c.134G>C
c.828G>C (p.Val276=)
c.894G>C (p.Val298=)
c.903G>C (p.Val301=)
1g.21575794G=CA1158019300ALPLc.1059G= (p.Val353=)
n.328G=
c.134G=
c.828G= (p.Val276=)
c.894G= (p.Val298=)
c.903G= (p.Val301=)
1g.21575794G>TCA416533021ALPLc.1059G>T (p.Val353=)
n.328G>T
c.134G>T
c.828G>T (p.Val276=)
c.894G>T (p.Val298=)
c.903G>T (p.Val301=)
1g.21575795G>ACA338881138ALPLc.1060G>A (p.Glu354Lys)
n.329G>A
c.135G>A
c.829G>A (p.Glu277Lys)
c.895G>A (p.Glu299Lys)
c.904G>A (p.Glu302Lys)
 COSMIC
1g.21575795G>CCA338881140ALPLc.1060G>C (p.Glu354Gln)
n.329G>C
c.135G>C
c.829G>C (p.Glu277Gln)
c.895G>C (p.Glu299Gln)
c.904G>C (p.Glu302Gln)
1g.21575795G>TCA338881142ALPLc.1060G>T (p.Glu354Ter)
n.329G>T
c.135G>T
c.829G>T (p.Glu277Ter)
c.895G>T (p.Glu299Ter)
c.904G>T (p.Glu302Ter)
1g.21575796A>CCA338881144ALPLc.1061A>C (p.Glu354Ala)
n.330A>C
c.136A>C
c.830A>C (p.Glu277Ala)
c.896A>C (p.Glu299Ala)
c.905A>C (p.Glu302Ala)
1g.21575796A>GCA338881145ALPLc.1061A>G (p.Glu354Gly)
n.330A>G
c.136A>G
c.830A>G (p.Glu277Gly)
c.896A>G (p.Glu299Gly)
c.905A>G (p.Glu302Gly)
1g.21575796A>TCA338881146ALPLc.1061A>T (p.Glu354Val)
n.330A>T
c.136A>T
c.830A>T (p.Glu277Val)
c.896A>T (p.Glu299Val)
c.905A>T (p.Glu302Val)
1g.21575797G>ACA416533030ALPLc.1062G>A (p.Glu354=)
n.331G>A
c.137G>A
c.831G>A (p.Glu277=)
c.897G>A (p.Glu299=)
c.906G>A (p.Glu302=)
 ClinVar
1g.21575797G>CCA338881148ALPLc.1062G>C (p.Glu354Asp)
n.331G>C
c.137G>C
c.831G>C (p.Glu277Asp)
c.897G>C (p.Glu299Asp)
c.906G>C (p.Glu302Asp)
 ClinVar dbSNP gnomAD v4
1g.21575797G=CA1158019301ALPLc.1062G= (p.Glu354=)
n.331G=
c.137G=
c.831G= (p.Glu277=)
c.897G= (p.Glu299=)
c.906G= (p.Glu302=)
1g.21575797G>TCA338881150ALPLc.1062G>T (p.Glu354Asp)
n.331G>T
c.137G>T
c.831G>T (p.Glu277Asp)
c.897G>T (p.Glu299Asp)
c.906G>T (p.Glu302Asp)
1g.21575798A>CCA338881152ALPLc.1063A>C (p.Met355Leu)
n.332A>C
c.138A>C
c.832A>C (p.Met278Leu)
c.898A>C (p.Met300Leu)
c.907A>C (p.Met303Leu)
1g.21575798A>GCA338881153ALPLc.1063A>G (p.Met355Val)
n.332A>G
c.138A>G
c.832A>G (p.Met278Val)
c.898A>G (p.Met300Val)
c.907A>G (p.Met303Val)
1g.21575798A>TCA338881154ALPLc.1063A>T (p.Met355Leu)
n.332A>T
c.138A>T
c.832A>T (p.Met278Leu)
c.898A>T (p.Met300Leu)
c.907A>T (p.Met303Leu)
1g.21575799T>ACA338881156ALPLc.1064T>A (p.Met355Lys)
n.333T>A
c.139T>A
c.833T>A (p.Met278Lys)
c.899T>A (p.Met300Lys)
c.908T>A (p.Met303Lys)
1g.21575799T>CCA338881157ALPLc.1064T>C (p.Met355Thr)
n.333T>C
c.139T>C
c.833T>C (p.Met278Thr)
c.899T>C (p.Met300Thr)
c.908T>C (p.Met303Thr)
1g.21575799T>GCA338881155ALPLc.1064T>G (p.Met355Arg)
n.333T>G
c.139T>G
c.833T>G (p.Met278Arg)
c.899T>G (p.Met300Arg)
c.908T>G (p.Met303Arg)
1g.21575800G>ACA338881159ALPLc.1065G>A (p.Met355Ile)
n.334G>A
c.140G>A
c.834G>A (p.Met278Ile)
c.900G>A (p.Met300Ile)
c.909G>A (p.Met303Ile)
 ClinVar gnomAD v4
1g.21575800G>CCA338881158ALPLc.1065G>C (p.Met355Ile)
n.334G>C
c.140G>C
c.834G>C (p.Met278Ile)
c.900G>C (p.Met300Ile)
c.909G>C (p.Met303Ile)
1g.21575800G>TCA338881160ALPLc.1065G>T (p.Met355Ile)
n.334G>T
c.140G>T
c.834G>T (p.Met278Ile)
c.900G>T (p.Met300Ile)
c.909G>T (p.Met303Ile)
1g.21575801G>ACA338881161ALPLc.1066G>A (p.Asp356Asn)
n.335G>A
c.141G>A
c.835G>A (p.Asp279Asn)
c.901G>A (p.Asp301Asn)
c.910G>A (p.Asp304Asn)
1g.21575801G>CCA338881163ALPLc.1066G>C (p.Asp356His)
n.335G>C
c.141G>C
c.835G>C (p.Asp279His)
c.901G>C (p.Asp301His)
c.910G>C (p.Asp304His)
1g.21575801G>TCA338881162ALPLc.1066G>T (p.Asp356Tyr)
n.335G>T
c.141G>T
c.835G>T (p.Asp279Tyr)
c.901G>T (p.Asp301Tyr)
c.910G>T (p.Asp304Tyr)
1g.21575802A>CCA338881164ALPLc.1067A>C (p.Asp356Ala)
n.336A>C
c.142A>C
c.836A>C (p.Asp279Ala)
c.902A>C (p.Asp301Ala)
c.911A>C (p.Asp304Ala)
1g.21575802A>GCA338881166ALPLc.1067A>G (p.Asp356Gly)
n.336A>G
c.142A>G
c.836A>G (p.Asp279Gly)
c.902A>G (p.Asp301Gly)
c.911A>G (p.Asp304Gly)
1g.21575802A>TCA338881165ALPLc.1067A>T (p.Asp356Val)
n.336A>T
c.142A>T
c.836A>T (p.Asp279Val)
c.902A>T (p.Asp301Val)
c.911A>T (p.Asp304Val)
1g.21575803C>ACA338881167ALPLc.1068C>A (p.Asp356Glu)
n.337C>A
c.143C>A
c.837C>A (p.Asp279Glu)
c.903C>A (p.Asp301Glu)
c.912C>A (p.Asp304Glu)
 ClinVar
1g.21575803C=CA1158019302ALPLc.1068C= (p.Asp356=)
n.337C=
c.143C=
c.837C= (p.Asp279=)
c.903C= (p.Asp301=)
c.912C= (p.Asp304=)
1g.21575803C>GCA666726ALPLc.1068C>G (p.Asp356Glu)
n.337C>G
c.143C>G
c.837C>G (p.Asp279Glu)
c.903C>G (p.Asp301Glu)
c.912C>G (p.Asp304Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21575803C>TCA416533058ALPLc.1068C>T (p.Asp356=)
n.337C>T
c.143C>T
c.837C>T (p.Asp279=)
c.903C>T (p.Asp301=)
c.912C>T (p.Asp304=)
 ClinVar COSMIC
1g.21575804C>ACA416533063ALPLc.1069C>A (p.Arg357=)
n.338C>A
c.144C>A
c.838C>A (p.Arg280=)
c.904C>A (p.Arg302=)
c.913C>A (p.Arg305=)
1g.21575804C=CA1158019303ALPLc.1069C= (p.Arg357=)
n.338C=
c.144C=
c.838C= (p.Arg280=)
c.904C= (p.Arg302=)
c.913C= (p.Arg305=)
1g.21575804C>GCA338881168ALPLc.1069C>G (p.Arg357Gly)
n.338C>G
c.144C>G
c.838C>G (p.Arg280Gly)
c.904C>G (p.Arg302Gly)
c.913C>G (p.Arg305Gly)
1g.21575804C>TCA666727ALPLc.1069C>T (p.Arg357Trp)
n.338C>T
c.144C>T
c.838C>T (p.Arg280Trp)
c.904C>T (p.Arg302Trp)
c.913C>T (p.Arg305Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21575805G>ACA666728ALPLc.1070G>A (p.Arg357Gln)
n.339G>A
c.145G>A
c.839G>A (p.Arg280Gln)
c.905G>A (p.Arg302Gln)
c.914G>A (p.Arg305Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575805G>CCA338881169ALPLc.1070G>C (p.Arg357Pro)
n.339G>C
c.145G>C
c.839G>C (p.Arg280Pro)
c.905G>C (p.Arg302Pro)
c.914G>C (p.Arg305Pro)
1g.21575805G=CA1143520638ALPLc.1070G= (p.Arg357=)
n.339G=
c.145G=
c.839G= (p.Arg280=)
c.905G= (p.Arg302=)
c.914G= (p.Arg305=)
1g.21575805G>TCA338881170ALPLc.1070G>T (p.Arg357Leu)
n.339G>T
c.145G>T
c.839G>T (p.Arg280Leu)
c.905G>T (p.Arg302Leu)
c.914G>T (p.Arg305Leu)
1g.21575806G>ACA416533073ALPLc.1071G>A (p.Arg357=)
n.340G>A
c.146G>A
c.840G>A (p.Arg280=)
c.906G>A (p.Arg302=)
c.915G>A (p.Arg305=)
 ClinVar dbSNP
1g.21575806G>CCA416533069ALPLc.1071G>C (p.Arg357=)
n.340G>C
c.146G>C
c.840G>C (p.Arg280=)
c.906G>C (p.Arg302=)
c.915G>C (p.Arg305=)
1g.21575806G>TCA416533072ALPLc.1071G>T (p.Arg357=)
n.340G>T
c.146G>T
c.840G>T (p.Arg280=)
c.906G>T (p.Arg302=)
c.915G>T (p.Arg305=)
1g.21575807G>ACA338881171ALPLc.1072G>A (p.Ala358Thr)
n.341G>A
c.147G>A
c.841G>A (p.Ala281Thr)
c.907G>A (p.Ala303Thr)
c.916G>A (p.Ala306Thr)
 ClinVar dbSNP
1g.21575807G>CCA338881172ALPLc.1072G>C (p.Ala358Pro)
n.341G>C
c.147G>C
c.841G>C (p.Ala281Pro)
c.907G>C (p.Ala303Pro)
c.916G>C (p.Ala306Pro)
1g.21575807G>TCA338881173ALPLc.1072G>T (p.Ala358Ser)
n.341G>T
c.147G>T
c.841G>T (p.Ala281Ser)
c.907G>T (p.Ala303Ser)
c.916G>T (p.Ala306Ser)
1g.21575808C>ACA338881174ALPLc.1073C>A (p.Ala358Asp)
n.342C>A
c.148C>A
c.842C>A (p.Ala281Asp)
c.908C>A (p.Ala303Asp)
c.917C>A (p.Ala306Asp)
1g.21575808C=CA1158019304ALPLc.1073C= (p.Ala358=)
n.342C=
c.148C=
c.842C= (p.Ala281=)
c.908C= (p.Ala303=)
c.917C= (p.Ala306=)
1g.21575808C>GCA338881175ALPLc.1073C>G (p.Ala358Gly)
n.342C>G
c.148C>G
c.842C>G (p.Ala281Gly)
c.908C>G (p.Ala303Gly)
c.917C>G (p.Ala306Gly)
1g.21575808C>TCA338881176ALPLc.1073C>T (p.Ala358Val)
n.342C>T
c.148C>T
c.842C>T (p.Ala281Val)
c.908C>T (p.Ala303Val)
c.917C>T (p.Ala306Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21575809C>ACA416533089ALPLc.1074C>A (p.Ala358=)
n.343C>A
c.149C>A
c.843C>A (p.Ala281=)
c.909C>A (p.Ala303=)
c.918C>A (p.Ala306=)
1g.21575809C>GCA416533083ALPLc.1074C>G (p.Ala358=)
n.343C>G
c.149C>G
c.843C>G (p.Ala281=)
c.909C>G (p.Ala303=)
c.918C>G (p.Ala306=)
1g.21575809C>TCA416533087ALPLc.1074C>T (p.Ala358=)
n.343C>T
c.149C>T
c.843C>T (p.Ala281=)
c.909C>T (p.Ala303=)
c.918C>T (p.Ala306=)
1g.21575810A=CA1158019305ALPLc.1075A= (p.Ile359=)
n.344A=
c.150A=
c.844A= (p.Ile282=)
c.910A= (p.Ile304=)
c.919A= (p.Ile307=)
1g.21575810A>CCA338881179ALPLc.1075A>C (p.Ile359Leu)
n.344A>C
c.150A>C
c.844A>C (p.Ile282Leu)
c.910A>C (p.Ile304Leu)
c.919A>C (p.Ile307Leu)
1g.21575810A>GCA338881178ALPLc.1075A>G (p.Ile359Val)
n.344A>G
c.150A>G
c.844A>G (p.Ile282Val)
c.910A>G (p.Ile304Val)
c.919A>G (p.Ile307Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21575810A>TCA338881177ALPLc.1075A>T (p.Ile359Phe)
n.344A>T
c.150A>T
c.844A>T (p.Ile282Phe)
c.910A>T (p.Ile304Phe)
c.919A>T (p.Ile307Phe)
1g.21575811T>ACA338881180ALPLc.1076T>A (p.Ile359Asn)
n.345T>A
c.151T>A
c.845T>A (p.Ile282Asn)
c.911T>A (p.Ile304Asn)
c.920T>A (p.Ile307Asn)
1g.21575811T>CCA338881181ALPLc.1076T>C (p.Ile359Thr)
n.345T>C
c.151T>C
c.845T>C (p.Ile282Thr)
c.911T>C (p.Ile304Thr)
c.920T>C (p.Ile307Thr)
1g.21575811T>GCA338881182ALPLc.1076T>G (p.Ile359Ser)
n.345T>G
c.151T>G
c.845T>G (p.Ile282Ser)
c.911T>G (p.Ile304Ser)
c.920T>G (p.Ile307Ser)
1g.21575811T=CA1158019306ALPLc.1076T= (p.Ile359=)
n.345T=
c.151T=
c.845T= (p.Ile282=)
c.911T= (p.Ile304=)
c.920T= (p.Ile307=)
1g.21575812C>ACA416533099ALPLc.1077C>A (p.Ile359=)
n.346C>A
c.152C>A
c.846C>A (p.Ile282=)
c.912C>A (p.Ile304=)
c.921C>A (p.Ile307=)
1g.21575812C=CA1147289500ALPLc.1077C= (p.Ile359=)
n.346C=
c.152C=
c.846C= (p.Ile282=)
c.912C= (p.Ile304=)
c.921C= (p.Ile307=)
1g.21575812C>GCA338881183ALPLc.1077C>G (p.Ile359Met)
n.346C>G
c.152C>G
c.846C>G (p.Ile282Met)
c.912C>G (p.Ile304Met)
c.921C>G (p.Ile307Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21575812C>TCA666729ALPLc.1077C>T (p.Ile359=)
n.346C>T
c.152C>T
c.846C>T (p.Ile282=)
c.912C>T (p.Ile304=)
c.921C>T (p.Ile307=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575813_21575816dupCA521899902ALPLc.1078_1081dup (p.Gln361ArgfsTer?)
n.347_350dup
c.153_156dup
c.847_850dup (p.Gln284ArgfsTer?)
c.913_916dup (p.Gln306ArgfsTer?)
c.922_925dup (p.Gln309ArgfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21575813G>ACA666730ALPLc.1078G>A (p.Gly360Arg)
n.347G>A
c.153G>A
c.847G>A (p.Gly283Arg)
c.913G>A (p.Gly305Arg)
c.922G>A (p.Gly308Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21575813G>CCA338881184ALPLc.1078G>C (p.Gly360Arg)
n.347G>C
c.153G>C
c.847G>C (p.Gly283Arg)
c.913G>C (p.Gly305Arg)
c.922G>C (p.Gly308Arg)
1g.21575813G=CA1158019307ALPLc.1078G= (p.Gly360=)
n.347G=
c.153G=
c.847G= (p.Gly283=)
c.913G= (p.Gly305=)
c.922G= (p.Gly308=)
1g.21575813G>TCA338881185ALPLc.1078G>T (p.Gly360Trp)
n.347G>T
c.153G>T
c.847G>T (p.Gly283Trp)
c.913G>T (p.Gly305Trp)
c.922G>T (p.Gly308Trp)
1g.21575814G>ACA338881186ALPLc.1079G>A (p.Gly360Glu)
n.348G>A
c.154G>A
c.848G>A (p.Gly283Glu)
c.914G>A (p.Gly305Glu)
c.923G>A (p.Gly308Glu)
1g.21575814G>CCA338881187ALPLc.1079G>C (p.Gly360Ala)
n.348G>C
c.154G>C
c.848G>C (p.Gly283Ala)
c.914G>C (p.Gly305Ala)
c.923G>C (p.Gly308Ala)
1g.21575814G>TCA338881188ALPLc.1079G>T (p.Gly360Val)
n.348G>T
c.154G>T
c.848G>T (p.Gly283Val)
c.914G>T (p.Gly305Val)
c.923G>T (p.Gly308Val)
1g.21575823_21575826dupCA16040722ALPLc.1088_1091dup (p.Ser364ArgfsTer?)
n.357_360dup
c.163_166dup
c.857_860dup (p.Ser287ArgfsTer?)
c.923_926dup (p.Ser309ArgfsTer?)
c.932_935dup (p.Ser312ArgfsTer?)
 ClinVar dbSNP
1g.21575815G>ACA416533114ALPLc.1080G>A (p.Gly360=)
n.349G>A
c.155G>A
c.849G>A (p.Gly283=)
c.915G>A (p.Gly305=)
c.924G>A (p.Gly308=)
 gnomAD v4
1g.21575815G>CCA416533117ALPLc.1080G>C (p.Gly360=)
n.349G>C
c.155G>C
c.849G>C (p.Gly283=)
c.915G>C (p.Gly305=)
c.924G>C (p.Gly308=)
1g.21575815G>TCA416533115ALPLc.1080G>T (p.Gly360=)
n.349G>T
c.155G>T
c.849G>T (p.Gly283=)
c.915G>T (p.Gly305=)
c.924G>T (p.Gly308=)
1g.21575816C>ACA338881190ALPLc.1081C>A (p.Gln361Lys)
n.350C>A
c.156C>A
c.850C>A (p.Gln284Lys)
c.916C>A (p.Gln306Lys)
c.925C>A (p.Gln309Lys)
1g.21575816C>GCA338881189ALPLc.1081C>G (p.Gln361Glu)
n.350C>G
c.156C>G
c.850C>G (p.Gln284Glu)
c.916C>G (p.Gln306Glu)
c.925C>G (p.Gln309Glu)
1g.21575816C>TCA338881191ALPLc.1081C>T (p.Gln361Ter)
n.350C>T
c.156C>T
c.850C>T (p.Gln284Ter)
c.916C>T (p.Gln306Ter)
c.925C>T (p.Gln309Ter)
1g.21575817A=CA1158019308ALPLc.1082A= (p.Gln361=)
n.351A=
c.157A=
c.851A= (p.Gln284=)
c.917A= (p.Gln306=)
c.926A= (p.Gln309=)
1g.21575817A>CCA338881192ALPLc.1082A>C (p.Gln361Pro)
n.351A>C
c.157A>C
c.851A>C (p.Gln284Pro)
c.917A>C (p.Gln306Pro)
c.926A>C (p.Gln309Pro)
1g.21575817A>GCA338881193ALPLc.1082A>G (p.Gln361Arg)
n.351A>G
c.157A>G
c.851A>G (p.Gln284Arg)
c.917A>G (p.Gln306Arg)
c.926A>G (p.Gln309Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21575817A>TCA338881194ALPLc.1082A>T (p.Gln361Leu)
n.351A>T
c.157A>T
c.851A>T (p.Gln284Leu)
c.917A>T (p.Gln306Leu)
c.926A>T (p.Gln309Leu)
1g.21575818G>ACA416533125ALPLc.1083G>A (p.Gln361=)
n.352G>A
c.158G>A
c.852G>A (p.Gln284=)
c.918G>A (p.Gln306=)
c.927G>A (p.Gln309=)
 gnomAD v4
1g.21575818G>CCA338881195ALPLc.1083G>C (p.Gln361His)
n.352G>C
c.158G>C
c.852G>C (p.Gln284His)
c.918G>C (p.Gln306His)
c.927G>C (p.Gln309His)
1g.21575818G>TCA338881196ALPLc.1083G>T (p.Gln361His)
n.352G>T
c.158G>T
c.852G>T (p.Gln284His)
c.918G>T (p.Gln306His)
c.927G>T (p.Gln309His)
1g.21575819G>ACA338881197ALPLc.1084G>A (p.Ala362Thr)
n.353G>A
c.159G>A
c.853G>A (p.Ala285Thr)
c.919G>A (p.Ala307Thr)
c.928G>A (p.Ala310Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21575819G>CCA338881198ALPLc.1084G>C (p.Ala362Pro)
n.353G>C
c.159G>C
c.853G>C (p.Ala285Pro)
c.919G>C (p.Ala307Pro)
c.928G>C (p.Ala310Pro)
1g.21575819G=CA1158019309ALPLc.1084G= (p.Ala362=)
n.353G=
c.159G=
c.853G= (p.Ala285=)
c.919G= (p.Ala307=)
c.928G= (p.Ala310=)
1g.21575819G>TCA338881199ALPLc.1084G>T (p.Ala362Ser)
n.353G>T
c.159G>T
c.853G>T (p.Ala285Ser)
c.919G>T (p.Ala307Ser)
c.928G>T (p.Ala310Ser)
 gnomAD v4
1g.21575820C>ACA338881200ALPLc.1085C>A (p.Ala362Glu)
n.354C>A
c.160C>A
c.854C>A (p.Ala285Glu)
c.920C>A (p.Ala307Glu)
c.929C>A (p.Ala310Glu)
1g.21575820C=CA1158019310ALPLc.1085C= (p.Ala362=)
n.354C=
c.160C=
c.854C= (p.Ala285=)
c.920C= (p.Ala307=)
c.929C= (p.Ala310=)
1g.21575820C>GCA338881201ALPLc.1085C>G (p.Ala362Gly)
n.354C>G
c.160C>G
c.854C>G (p.Ala285Gly)
c.920C>G (p.Ala307Gly)
c.929C>G (p.Ala310Gly)
 dbSNP
1g.21575820C>TCA338881202ALPLc.1085C>T (p.Ala362Val)
n.354C>T
c.160C>T
c.854C>T (p.Ala285Val)
c.920C>T (p.Ala307Val)
c.929C>T (p.Ala310Val)
1g.21575821A>CCA416533137ALPLc.1086A>C (p.Ala362=)
n.355A>C
c.161A>C
c.855A>C (p.Ala285=)
c.921A>C (p.Ala307=)
c.930A>C (p.Ala310=)
1g.21575821A>GCA416533139ALPLc.1086A>G (p.Ala362=)
n.355A>G
c.161A>G
c.855A>G (p.Ala285=)
c.921A>G (p.Ala307=)
c.930A>G (p.Ala310=)
1g.21575821A>TCA416533135ALPLc.1086A>T (p.Ala362=)
n.355A>T
c.161A>T
c.855A>T (p.Ala285=)
c.921A>T (p.Ala307=)
c.930A>T (p.Ala310=)
1g.21575822G>ACA338881205ALPLc.1087G>A (p.Gly363Ser)
n.356G>A
c.162G>A
c.856G>A (p.Gly286Ser)
c.922G>A (p.Gly308Ser)
c.931G>A (p.Gly311Ser)
1g.21575822G>CCA338881204ALPLc.1087G>C (p.Gly363Arg)
n.356G>C
c.162G>C
c.856G>C (p.Gly286Arg)
c.922G>C (p.Gly308Arg)
c.931G>C (p.Gly311Arg)
1g.21575822G>TCA338881203ALPLc.1087G>T (p.Gly363Cys)
n.356G>T
c.162G>T
c.856G>T (p.Gly286Cys)
c.922G>T (p.Gly308Cys)
c.931G>T (p.Gly311Cys)
1g.21575823G>ACA338881206ALPLc.1088G>A (p.Gly363Asp)
n.357G>A
c.163G>A
c.857G>A (p.Gly286Asp)
c.923G>A (p.Gly308Asp)
c.932G>A (p.Gly311Asp)
1g.21575823G>CCA338881207ALPLc.1088G>C (p.Gly363Ala)
n.357G>C
c.163G>C
c.857G>C (p.Gly286Ala)
c.923G>C (p.Gly308Ala)
c.932G>C (p.Gly311Ala)
1g.21575823G>TCA338881208ALPLc.1088G>T (p.Gly363Val)
n.357G>T
c.163G>T
c.857G>T (p.Gly286Val)
c.923G>T (p.Gly308Val)
c.932G>T (p.Gly311Val)
1g.21575824C>ACA416533149ALPLc.1089C>A (p.Gly363=)
n.358C>A
c.164C>A
c.858C>A (p.Gly286=)
c.924C>A (p.Gly308=)
c.933C>A (p.Gly311=)
 COSMIC
1g.21575824C>GCA416533152ALPLc.1089C>G (p.Gly363=)
n.358C>G
c.164C>G
c.858C>G (p.Gly286=)
c.924C>G (p.Gly308=)
c.933C>G (p.Gly311=)
1g.21575824C>TCA416533153ALPLc.1089C>T (p.Gly363=)
n.358C>T
c.164C>T
c.858C>T (p.Gly286=)
c.924C>T (p.Gly308=)
c.933C>T (p.Gly311=)
 ClinVar
1g.21575825A>CCA338881209ALPLc.1090A>C (p.Ser364Arg)
n.359A>C
c.165A>C
c.859A>C (p.Ser287Arg)
c.925A>C (p.Ser309Arg)
c.934A>C (p.Ser312Arg)
1g.21575825A>GCA338881210ALPLc.1090A>G (p.Ser364Gly)
n.359A>G
c.165A>G
c.859A>G (p.Ser287Gly)
c.925A>G (p.Ser309Gly)
c.934A>G (p.Ser312Gly)
1g.21575825A>TCA338881211ALPLc.1090A>T (p.Ser364Cys)
n.359A>T
c.165A>T
c.859A>T (p.Ser287Cys)
c.925A>T (p.Ser309Cys)
c.934A>T (p.Ser312Cys)
1g.21575826G>ACA338881212ALPLc.1091G>A (p.Ser364Asn)
n.360G>A
c.166G>A
c.860G>A (p.Ser287Asn)
c.926G>A (p.Ser309Asn)
c.935G>A (p.Ser312Asn)
1g.21575826G>CCA338881213ALPLc.1091G>C (p.Ser364Thr)
n.360G>C
c.166G>C
c.860G>C (p.Ser287Thr)
c.926G>C (p.Ser309Thr)
c.935G>C (p.Ser312Thr)
1g.21575826G>TCA338881214ALPLc.1091G>T (p.Ser364Ile)
n.360G>T
c.166G>T
c.860G>T (p.Ser287Ile)
c.926G>T (p.Ser309Ile)
c.935G>T (p.Ser312Ile)
1g.21575827C>ACA338881215ALPLc.1092C>A (p.Ser364Arg)
n.361C>A
c.167C>A
c.861C>A (p.Ser287Arg)
c.927C>A (p.Ser309Arg)
c.936C>A (p.Ser312Arg)
1g.21575827C=CA1158019311ALPLc.1092C= (p.Ser364=)
n.361C=
c.167C=
c.861C= (p.Ser287=)
c.927C= (p.Ser309=)
c.936C= (p.Ser312=)
1g.21575827C>GCA338881216ALPLc.1092C>G (p.Ser364Arg)
n.361C>G
c.167C>G
c.861C>G (p.Ser287Arg)
c.927C>G (p.Ser309Arg)
c.936C>G (p.Ser312Arg)
1g.21575827C>TCA416533168ALPLc.1092C>T (p.Ser364=)
n.361C>T
c.167C>T
c.861C>T (p.Ser287=)
c.927C>T (p.Ser309=)
c.936C>T (p.Ser312=)
 ClinVar dbSNP gnomAD v4
1g.21575828T>ACA338881218ALPLc.1093T>A (p.Leu365Met)
n.362T>A
c.168T>A
c.862T>A (p.Leu288Met)
c.928T>A (p.Leu310Met)
c.937T>A (p.Leu313Met)
1g.21575828T>CCA416533173ALPLc.1093T>C (p.Leu365=)
n.362T>C
c.168T>C
c.862T>C (p.Leu288=)
c.928T>C (p.Leu310=)
c.937T>C (p.Leu313=)
 dbSNP
1g.21575828T>GCA338881217ALPLc.1093T>G (p.Leu365Val)
n.362T>G
c.168T>G
c.862T>G (p.Leu288Val)
c.928T>G (p.Leu310Val)
c.937T>G (p.Leu313Val)
1g.21575829T>ACA338881219ALPLc.1094T>A (p.Leu365Ter)
n.363T>A
c.169T>A
c.863T>A (p.Leu288Ter)
c.929T>A (p.Leu310Ter)
c.938T>A (p.Leu313Ter)
1g.21575829T>CCA338881221ALPLc.1094T>C (p.Leu365Ser)
n.363T>C
c.169T>C
c.863T>C (p.Leu288Ser)
c.929T>C (p.Leu310Ser)
c.938T>C (p.Leu313Ser)
1g.21575829T>GCA338881220ALPLc.1094T>G (p.Leu365Trp)
n.363T>G
c.169T>G
c.863T>G (p.Leu288Trp)
c.929T>G (p.Leu310Trp)
c.938T>G (p.Leu313Trp)
 ClinVar dbSNP
1g.21575830G>ACA416533175ALPLc.1095G>A (p.Leu365=)
n.364G>A
c.170G>A
c.864G>A (p.Leu288=)
c.930G>A (p.Leu310=)
c.939G>A (p.Leu313=)
1g.21575830G>CCA338881222ALPLc.1095G>C (p.Leu365Phe)
n.364G>C
c.170G>C
c.864G>C (p.Leu288Phe)
c.930G>C (p.Leu310Phe)
c.939G>C (p.Leu313Phe)
1g.21575830G>TCA338881223ALPLc.1095G>T (p.Leu365Phe)
n.364G>T
c.170G>T
c.864G>T (p.Leu288Phe)
c.930G>T (p.Leu310Phe)
c.939G>T (p.Leu313Phe)
1g.21575831A>CCA338881224ALPLc.1096A>C (p.Thr366Pro)
n.365A>C
c.171A>C
c.865A>C (p.Thr289Pro)
c.931A>C (p.Thr311Pro)
c.940A>C (p.Thr314Pro)
1g.21575831A>GCA338881225ALPLc.1096A>G (p.Thr366Ala)
n.365A>G
c.171A>G
c.865A>G (p.Thr289Ala)
c.931A>G (p.Thr311Ala)
c.940A>G (p.Thr314Ala)
1g.21575831A>TCA338881226ALPLc.1096A>T (p.Thr366Ser)
n.365A>T
c.171A>T
c.865A>T (p.Thr289Ser)
c.931A>T (p.Thr311Ser)
c.940A>T (p.Thr314Ser)
1g.21575831_21575834delinsACCTCA1158019312ALPLc.1096_1099delinsACCT (p.Thr366=)
n.365_368delinsACCT
c.171_174delinsACCT
c.865_868delinsACCT (p.Thr289=)
c.931_934delinsACCT (p.Thr311=)
c.940_943delinsACCT (p.Thr314=)
1g.21575832C>ACA338881227ALPLc.1097C>A (p.Thr366Asn)
n.366C>A
c.172C>A
c.866C>A (p.Thr289Asn)
c.932C>A (p.Thr311Asn)
c.941C>A (p.Thr314Asn)
1g.21575832C>GCA338881228ALPLc.1097C>G (p.Thr366Ser)
n.366C>G
c.172C>G
c.866C>G (p.Thr289Ser)
c.932C>G (p.Thr311Ser)
c.941C>G (p.Thr314Ser)
1g.21575832C>TCA338881229ALPLc.1097C>T (p.Thr366Ile)
n.366C>T
c.172C>T
c.866C>T (p.Thr289Ile)
c.932C>T (p.Thr311Ile)
c.941C>T (p.Thr314Ile)
 ClinVar gnomAD v4
1g.21575836_21575838delCA891842433ALPLc.1101_1103del (p.Ser368del)
n.370_372del
c.176_178del
c.870_872del (p.Ser291del)
c.936_938del (p.Ser313del)
c.945_947del (p.Ser316del)
 ClinVar dbSNP gnomAD v4
1g.21575833C>ACA416533191ALPLc.1098C>A (p.Thr366=)
n.367C>A
c.173C>A
c.867C>A (p.Thr289=)
c.933C>A (p.Thr311=)
c.942C>A (p.Thr314=)
1g.21575833C=CA1158019313ALPLc.1098C= (p.Thr366=)
n.367C=
c.173C=
c.867C= (p.Thr289=)
c.933C= (p.Thr311=)
c.942C= (p.Thr314=)
1g.21575833C>GCA416533187ALPLc.1098C>G (p.Thr366=)
n.367C>G
c.173C>G
c.867C>G (p.Thr289=)
c.933C>G (p.Thr311=)
c.942C>G (p.Thr314=)
 ClinVar dbSNP COSMIC
1g.21575833C>TCA416533189ALPLc.1098C>T (p.Thr366=)
n.367C>T
c.173C>T
c.867C>T (p.Thr289=)
c.933C>T (p.Thr311=)
c.942C>T (p.Thr314=)
 dbSNP gnomAD v2 gnomAD v4
1g.21575834T>ACA338881230ALPLc.1099T>A (p.Ser367Thr)
n.368T>A
c.174T>A
c.868T>A (p.Ser290Thr)
c.934T>A (p.Ser312Thr)
c.943T>A (p.Ser315Thr)
 ClinVar
1g.21575834T>CCA338881231ALPLc.1099T>C (p.Ser367Pro)
n.368T>C
c.174T>C
c.868T>C (p.Ser290Pro)
c.934T>C (p.Ser312Pro)
c.943T>C (p.Ser315Pro)
1g.21575834T>GCA338881232ALPLc.1099T>G (p.Ser367Ala)
n.368T>G
c.174T>G
c.868T>G (p.Ser290Ala)
c.934T>G (p.Ser312Ala)
c.943T>G (p.Ser315Ala)
1g.21575835C>ACA338881235ALPLc.1100C>A (p.Ser367Tyr)
n.369C>A
c.175C>A
c.869C>A (p.Ser290Tyr)
c.935C>A (p.Ser312Tyr)
c.944C>A (p.Ser315Tyr)
1g.21575835C=CA1158019314ALPLc.1100C= (p.Ser367=)
n.369C=
c.175C=
c.869C= (p.Ser290=)
c.935C= (p.Ser312=)
c.944C= (p.Ser315=)
1g.21575835C>GCA338881233ALPLc.1100C>G (p.Ser367Cys)
n.369C>G
c.175C>G
c.869C>G (p.Ser290Cys)
c.935C>G (p.Ser312Cys)
c.944C>G (p.Ser315Cys)
1g.21575835C>TCA338881234ALPLc.1100C>T (p.Ser367Phe)
n.369C>T
c.175C>T
c.869C>T (p.Ser290Phe)
c.935C>T (p.Ser312Phe)
c.944C>T (p.Ser315Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21575836C>ACA416533200ALPLc.1101C>A (p.Ser367=)
n.370C>A
c.176C>A
c.870C>A (p.Ser290=)
c.936C>A (p.Ser312=)
c.945C>A (p.Ser315=)
 COSMIC
1g.21575836C=CA1158019315ALPLc.1101C= (p.Ser367=)
n.370C=
c.176C=
c.870C= (p.Ser290=)
c.936C= (p.Ser312=)
c.945C= (p.Ser315=)
1g.21575836C>GCA416533203ALPLc.1101C>G (p.Ser367=)
n.370C>G
c.176C>G
c.870C>G (p.Ser290=)
c.936C>G (p.Ser312=)
c.945C>G (p.Ser315=)
1g.21575836C>TCA666731ALPLc.1101C>T (p.Ser367=)
n.370C>T
c.176C>T
c.870C>T (p.Ser290=)
c.936C>T (p.Ser312=)
c.945C>T (p.Ser315=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575837T>ACA338881236ALPLc.1102T>A (p.Ser368Thr)
n.371T>A
c.177T>A
c.871T>A (p.Ser291Thr)
c.937T>A (p.Ser313Thr)
c.946T>A (p.Ser316Thr)
1g.21575837T>CCA338881237ALPLc.1102T>C (p.Ser368Pro)
n.371T>C
c.177T>C
c.871T>C (p.Ser291Pro)
c.937T>C (p.Ser313Pro)
c.946T>C (p.Ser316Pro)
1g.21575837T>GCA338881238ALPLc.1102T>G (p.Ser368Ala)
n.371T>G
c.177T>G
c.871T>G (p.Ser291Ala)
c.937T>G (p.Ser313Ala)
c.946T>G (p.Ser316Ala)
1g.21575838C>ACA338881239ALPLc.1103C>A (p.Ser368Ter)
n.372C>A
c.178C>A
c.872C>A (p.Ser291Ter)
c.938C>A (p.Ser313Ter)
c.947C>A (p.Ser316Ter)
1g.21575838C=CA1143621752ALPLc.1103C= (p.Ser368=)
n.372C=
c.178C=
c.872C= (p.Ser291=)
c.938C= (p.Ser313=)
c.947C= (p.Ser316=)
1g.21575838C>GCA338881241ALPLc.1103C>G (p.Ser368Trp)
n.372C>G
c.178C>G
c.872C>G (p.Ser291Trp)
c.938C>G (p.Ser313Trp)
c.947C>G (p.Ser316Trp)
 dbSNP gnomAD v2 gnomAD v4
1g.21575838C>TCA666732ALPLc.1103C>T (p.Ser368Leu)
n.372C>T
c.178C>T
c.872C>T (p.Ser291Leu)
c.938C>T (p.Ser313Leu)
c.947C>T (p.Ser316Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575839G>ACA416533214ALPLc.1104G>A (p.Ser368=)
n.373G>A
c.179G>A
c.873G>A (p.Ser291=)
c.939G>A (p.Ser313=)
c.948G>A (p.Ser316=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21575839G>CCA416533220ALPLc.1104G>C (p.Ser368=)
n.373G>C
c.179G>C
c.873G>C (p.Ser291=)
c.939G>C (p.Ser313=)
c.948G>C (p.Ser316=)
1g.21575839G=CA1158019316ALPLc.1104G= (p.Ser368=)
n.373G=
c.179G=
c.873G= (p.Ser291=)
c.939G= (p.Ser313=)
c.948G= (p.Ser316=)
1g.21575839G>TCA416533211ALPLc.1104G>T (p.Ser368=)
n.373G>T
c.179G>T
c.873G>T (p.Ser291=)
c.939G>T (p.Ser313=)
c.948G>T (p.Ser316=)
 ClinVar
1g.21575840G>ACA338881244ALPLc.1105G>A (p.Glu369Lys)
n.374G>A
c.180G>A
c.874G>A (p.Glu292Lys)
c.940G>A (p.Glu314Lys)
c.949G>A (p.Glu317Lys)
1g.21575840G>CCA338881245ALPLc.1105G>C (p.Glu369Gln)
n.374G>C
c.180G>C
c.874G>C (p.Glu292Gln)
c.940G>C (p.Glu314Gln)
c.949G>C (p.Glu317Gln)
1g.21575840G>TCA338881247ALPLc.1105G>T (p.Glu369Ter)
n.374G>T
c.180G>T
c.874G>T (p.Glu292Ter)
c.940G>T (p.Glu314Ter)
c.949G>T (p.Glu317Ter)
1g.21575841A>CCA338881251ALPLc.1106A>C (p.Glu369Ala)
n.375A>C
c.181A>C
c.875A>C (p.Glu292Ala)
c.941A>C (p.Glu314Ala)
c.950A>C (p.Glu317Ala)
1g.21575841A>GCA338881252ALPLc.1106A>G (p.Glu369Gly)
n.375A>G
c.181A>G
c.875A>G (p.Glu292Gly)
c.941A>G (p.Glu314Gly)
c.950A>G (p.Glu317Gly)
1g.21575841A>TCA338881249ALPLc.1106A>T (p.Glu369Val)
n.375A>T
c.181A>T
c.875A>T (p.Glu292Val)
c.941A>T (p.Glu314Val)
c.950A>T (p.Glu317Val)
1g.21575842A>CCA338881254ALPLc.1107A>C (p.Glu369Asp)
n.376A>C
c.182A>C
c.876A>C (p.Glu292Asp)
c.942A>C (p.Glu314Asp)
c.951A>C (p.Glu317Asp)
1g.21575842A>GCA416533228ALPLc.1107A>G (p.Glu369=)
n.376A>G
c.182A>G
c.876A>G (p.Glu292=)
c.942A>G (p.Glu314=)
c.951A>G (p.Glu317=)
1g.21575842A>TCA338881256ALPLc.1107A>T (p.Glu369Asp)
n.376A>T
c.182A>T
c.876A>T (p.Glu292Asp)
c.942A>T (p.Glu314Asp)
c.951A>T (p.Glu317Asp)
1g.21575843G>ACA338881258ALPLc.1108G>A (p.Asp370Asn)
n.377G>A
c.183G>A
c.877G>A (p.Asp293Asn)
c.943G>A (p.Asp315Asn)
c.952G>A (p.Asp318Asn)
1g.21575843G>CCA338881259ALPLc.1108G>C (p.Asp370His)
n.377G>C
c.183G>C
c.877G>C (p.Asp293His)
c.943G>C (p.Asp315His)
c.952G>C (p.Asp318His)
1g.21575843G>TCA338881260ALPLc.1108G>T (p.Asp370Tyr)
n.377G>T
c.183G>T
c.877G>T (p.Asp293Tyr)
c.943G>T (p.Asp315Tyr)
c.952G>T (p.Asp318Tyr)
1g.21575844A>CCA338881263ALPLc.1109A>C (p.Asp370Ala)
n.378A>C
c.184A>C
c.878A>C (p.Asp293Ala)
c.944A>C (p.Asp315Ala)
c.953A>C (p.Asp318Ala)
1g.21575844A>GCA338881264ALPLc.1109A>G (p.Asp370Gly)
n.378A>G
c.184A>G
c.878A>G (p.Asp293Gly)
c.944A>G (p.Asp315Gly)
c.953A>G (p.Asp318Gly)
1g.21575844A>TCA338881266ALPLc.1109A>T (p.Asp370Val)
n.378A>T
c.184A>T
c.878A>T (p.Asp293Val)
c.944A>T (p.Asp315Val)
c.953A>T (p.Asp318Val)
1g.21575845C>ACA338881268ALPLc.1110C>A (p.Asp370Glu)
n.379C>A
c.185C>A
c.879C>A (p.Asp293Glu)
c.945C>A (p.Asp315Glu)
c.954C>A (p.Asp318Glu)
1g.21575845C>GCA338881270ALPLc.1110C>G (p.Asp370Glu)
n.379C>G
c.185C>G
c.879C>G (p.Asp293Glu)
c.945C>G (p.Asp315Glu)
c.954C>G (p.Asp318Glu)
1g.21575845C>TCA416533243ALPLc.1110C>T (p.Asp370=)
n.379C>T
c.185C>T
c.879C>T (p.Asp293=)
c.945C>T (p.Asp315=)
c.954C>T (p.Asp318=)
 ClinVar dbSNP gnomAD v4
1g.21575846A=CA1158019318ALPLc.1111A= (p.Thr371=)
n.380A=
c.186A=
c.880A= (p.Thr294=)
c.946A= (p.Thr316=)
c.955A= (p.Thr319=)
1g.21575846A>CCA338881271ALPLc.1111A>C (p.Thr371Pro)
n.380A>C
c.186A>C
c.880A>C (p.Thr294Pro)
c.946A>C (p.Thr316Pro)
c.955A>C (p.Thr319Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.21575846A>GCA338881273ALPLc.1111A>G (p.Thr371Ala)
n.380A>G
c.186A>G
c.880A>G (p.Thr294Ala)
c.946A>G (p.Thr316Ala)
c.955A>G (p.Thr319Ala)
1g.21575846A>TCA338881275ALPLc.1111A>T (p.Thr371Ser)
n.380A>T
c.186A>T
c.880A>T (p.Thr294Ser)
c.946A>T (p.Thr316Ser)
c.955A>T (p.Thr319Ser)
1g.21575846_21575848delCA913072855ALPLc.1111_1113del (p.Thr371del)
n.380_382del
c.186_188del
c.880_882del (p.Thr294del)
c.946_948del (p.Thr316del)
c.955_957del (p.Thr319del)
1g.21575846_21575848delinsACTCA1158019317ALPLc.1111_1113delinsACT (p.Thr371=)
n.380_382delinsACT
c.186_188delinsACT
c.880_882delinsACT (p.Thr294=)
c.946_948delinsACT (p.Thr316=)
c.955_957delinsACT (p.Thr319=)
1g.21575847C>ACA338881279ALPLc.1112C>A (p.Thr371Asn)
n.381C>A
c.187C>A
c.881C>A (p.Thr294Asn)
c.947C>A (p.Thr316Asn)
c.956C>A (p.Thr319Asn)
1g.21575847C=CA1158019319ALPLc.1112C= (p.Thr371=)
n.381C=
c.187C=
c.881C= (p.Thr294=)
c.947C= (p.Thr316=)
c.956C= (p.Thr319=)
1g.21575847C>GCA338881277ALPLc.1112C>G (p.Thr371Ser)
n.381C>G
c.187C>G
c.881C>G (p.Thr294Ser)
c.947C>G (p.Thr316Ser)
c.956C>G (p.Thr319Ser)
1g.21575847C>TCA666733ALPLc.1112C>T (p.Thr371Ile)
n.381C>T
c.187C>T
c.881C>T (p.Thr294Ile)
c.947C>T (p.Thr316Ile)
c.956C>T (p.Thr319Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21575849_21575850delCA658820991ALPLc.1114_1115del (p.Leu372AspfsTer?)
n.383_384del
c.189_190del
c.883_884del (p.Leu295AspfsTer?)
c.949_950del (p.Leu317AspfsTer?)
c.958_959del (p.Leu320AspfsTer?)
 ClinVar dbSNP gnomAD v4
1g.21575848T>ACA416533254ALPLc.1113T>A (p.Thr371=)
n.382T>A
c.188T>A
c.882T>A (p.Thr294=)
c.948T>A (p.Thr316=)
c.957T>A (p.Thr319=)
 ClinVar
1g.21575848T>CCA416533256ALPLc.1113T>C (p.Thr371=)
n.382T>C
c.188T>C
c.882T>C (p.Thr294=)
c.948T>C (p.Thr316=)
c.957T>C (p.Thr319=)
1g.21575848T>GCA416533251ALPLc.1113T>G (p.Thr371=)
n.382T>G
c.188T>G
c.882T>G (p.Thr294=)
c.948T>G (p.Thr316=)
c.957T>G (p.Thr319=)
1g.21575849C>ACA338881281ALPLc.1114C>A (p.Leu372Met)
n.383C>A
c.189C>A
c.883C>A (p.Leu295Met)
c.949C>A (p.Leu317Met)
c.958C>A (p.Leu320Met)
1g.21575849C=CA1158019320ALPLc.1114C= (p.Leu372=)
n.383C=
c.189C=
c.883C= (p.Leu295=)
c.949C= (p.Leu317=)
c.958C= (p.Leu320=)
1g.21575849C>GCA338881282ALPLc.1114C>G (p.Leu372Val)
n.383C>G
c.189C>G
c.883C>G (p.Leu295Val)
c.949C>G (p.Leu317Val)
c.958C>G (p.Leu320Val)
 dbSNP gnomAD v2
1g.21575849C>TCA416533261ALPLc.1114C>T (p.Leu372=)
n.383C>T
c.189C>T
c.883C>T (p.Leu295=)
c.949C>T (p.Leu317=)
c.958C>T (p.Leu320=)
1g.21575850T>ACA338881284ALPLc.1115T>A (p.Leu372Gln)
n.384T>A
c.190T>A
c.884T>A (p.Leu295Gln)
c.950T>A (p.Leu317Gln)
c.959T>A (p.Leu320Gln)
1g.21575850T>CCA338881286ALPLc.1115T>C (p.Leu372Pro)
n.384T>C
c.190T>C
c.884T>C (p.Leu295Pro)
c.950T>C (p.Leu317Pro)
c.959T>C (p.Leu320Pro)
1g.21575850T>GCA338881288ALPLc.1115T>G (p.Leu372Arg)
n.384T>G
c.190T>G
c.884T>G (p.Leu295Arg)
c.950T>G (p.Leu317Arg)
c.959T>G (p.Leu320Arg)
1g.21575851G>ACA416533269ALPLc.1116G>A (p.Leu372=)
n.385G>A
c.191G>A
c.885G>A (p.Leu295=)
c.951G>A (p.Leu317=)
c.960G>A (p.Leu320=)
 ClinVar
1g.21575851G>CCA19070253ALPLc.1116G>C (p.Leu372=)
n.385G>C
c.191G>C
c.885G>C (p.Leu295=)
c.951G>C (p.Leu317=)
c.960G>C (p.Leu320=)
 dbSNP gnomAD v4
1g.21575851G=CA1143398688ALPLc.1116G= (p.Leu372=)
n.385G=
c.191G=
c.885G= (p.Leu295=)
c.951G= (p.Leu317=)
c.960G= (p.Leu320=)
1g.21575851G>TCA416533272ALPLc.1116G>T (p.Leu372=)
n.385G>T
c.191G>T
c.885G>T (p.Leu295=)
c.951G>T (p.Leu317=)
c.960G>T (p.Leu320=)
1g.21575852A>CCA338881290ALPLc.1117A>C (p.Thr373Pro)
n.386A>C
c.192A>C
c.886A>C (p.Thr296Pro)
c.952A>C (p.Thr318Pro)
c.961A>C (p.Thr321Pro)
1g.21575852A>GCA338881291ALPLc.1117A>G (p.Thr373Ala)
n.386A>G
c.192A>G
c.886A>G (p.Thr296Ala)
c.952A>G (p.Thr318Ala)
c.961A>G (p.Thr321Ala)
1g.21575852A>TCA338881293ALPLc.1117A>T (p.Thr373Ser)
n.386A>T
c.192A>T
c.886A>T (p.Thr296Ser)
c.952A>T (p.Thr318Ser)
c.961A>T (p.Thr321Ser)
1g.21575853C>ACA338881295ALPLc.1118C>A (p.Thr373Asn)
n.387C>A
c.193C>A
c.887C>A (p.Thr296Asn)
c.953C>A (p.Thr318Asn)
c.962C>A (p.Thr321Asn)
1g.21575853C>GCA338881296ALPLc.1118C>G (p.Thr373Ser)
n.387C>G
c.193C>G
c.887C>G (p.Thr296Ser)
c.953C>G (p.Thr318Ser)
c.962C>G (p.Thr321Ser)
1g.21575853C>TCA338881297ALPLc.1118C>T (p.Thr373Ile)
n.387C>T
c.193C>T
c.887C>T (p.Thr296Ile)
c.953C>T (p.Thr318Ile)
c.962C>T (p.Thr321Ile)
1g.21575854C>ACA416533288ALPLc.1119C>A (p.Thr373=)
n.388C>A
c.194C>A
c.888C>A (p.Thr296=)
c.954C>A (p.Thr318=)
c.963C>A (p.Thr321=)
1g.21575854C=CA1141262812ALPLc.1119C= (p.Thr373=)
n.388C=
c.194C=
c.888C= (p.Thr296=)
c.954C= (p.Thr318=)
c.963C= (p.Thr321=)
1g.21575854C>GCA416533290ALPLc.1119C>G (p.Thr373=)
n.388C>G
c.194C>G
c.888C>G (p.Thr296=)
c.954C>G (p.Thr318=)
c.963C>G (p.Thr321=)
1g.21575854C>TCA666734ALPLc.1119C>T (p.Thr373=)
n.388C>T
c.194C>T
c.888C>T (p.Thr296=)
c.954C>T (p.Thr318=)
c.963C>T (p.Thr321=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575855G>ACA666735ALPLc.1120G>A (p.Val374Met)
n.389G>A
c.195G>A
c.889G>A (p.Val297Met)
c.955G>A (p.Val319Met)
c.964G>A (p.Val322Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21575855G>CCA338881302ALPLc.1120G>C (p.Val374Leu)
n.389G>C
c.195G>C
c.889G>C (p.Val297Leu)
c.955G>C (p.Val319Leu)
c.964G>C (p.Val322Leu)
1g.21575855G=CA1146184802ALPLc.1120G= (p.Val374=)
n.389G=
c.195G=
c.889G= (p.Val297=)
c.955G= (p.Val319=)
c.964G= (p.Val322=)
1g.21575855G>TCA338881300ALPLc.1120G>T (p.Val374Leu)
n.389G>T
c.195G>T
c.889G>T (p.Val297Leu)
c.955G>T (p.Val319Leu)
c.964G>T (p.Val322Leu)
 gnomAD v4
1g.21575856T>ACA338881308ALPLc.1121T>A (p.Val374Glu)
n.390T>A
c.196T>A
c.890T>A (p.Val297Glu)
c.956T>A (p.Val319Glu)
c.965T>A (p.Val322Glu)
1g.21575856T>CCA338881304ALPLc.1121T>C (p.Val374Ala)
n.390T>C
c.196T>C
c.890T>C (p.Val297Ala)
c.956T>C (p.Val319Ala)
c.965T>C (p.Val322Ala)
1g.21575856T>GCA338881306ALPLc.1121T>G (p.Val374Gly)
n.390T>G
c.196T>G
c.890T>G (p.Val297Gly)
c.956T>G (p.Val319Gly)
c.965T>G (p.Val322Gly)
1g.21575857G>ACA666736ALPLc.1122G>A (p.Val374=)
n.391G>A
c.197G>A
c.891G>A (p.Val297=)
c.957G>A (p.Val319=)
c.966G>A (p.Val322=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21575857G>CCA416533306ALPLc.1122G>C (p.Val374=)
n.391G>C
c.197G>C
c.891G>C (p.Val297=)
c.957G>C (p.Val319=)
c.966G>C (p.Val322=)
1g.21575857G=CA1148875596ALPLc.1122G= (p.Val374=)
n.391G=
c.197G=
c.891G= (p.Val297=)
c.957G= (p.Val319=)
c.966G= (p.Val322=)
1g.21575857G>TCA416533303ALPLc.1122G>T (p.Val374=)
n.391G>T
c.197G>T
c.891G>T (p.Val297=)
c.957G>T (p.Val319=)
c.966G>T (p.Val322=)
1g.21575858G>ACA338881310ALPLc.1123G>A (p.Val375Ile)
n.392G>A
c.198G>A
c.892G>A (p.Val298Ile)
c.958G>A (p.Val320Ile)
c.967G>A (p.Val323Ile)
1g.21575858G>CCA338881311ALPLc.1123G>C (p.Val375Leu)
n.392G>C
c.198G>C
c.892G>C (p.Val298Leu)
c.958G>C (p.Val320Leu)
c.967G>C (p.Val323Leu)
1g.21575858G>TCA338881313ALPLc.1123G>T (p.Val375Phe)
n.392G>T
c.198G>T
c.892G>T (p.Val298Phe)
c.958G>T (p.Val320Phe)
c.967G>T (p.Val323Phe)
1g.21575859T>ACA338881316ALPLc.1124T>A (p.Val375Asp)
n.393T>A
c.199T>A
c.893T>A (p.Val298Asp)
c.959T>A (p.Val320Asp)
c.968T>A (p.Val323Asp)
1g.21575859T>CCA19070287ALPLc.1124T>C (p.Val375Ala)
n.393T>C
c.199T>C
c.893T>C (p.Val298Ala)
c.959T>C (p.Val320Ala)
c.968T>C (p.Val323Ala)
 dbSNP
1g.21575859T>GCA338881315ALPLc.1124T>G (p.Val375Gly)
n.393T>G
c.199T>G
c.893T>G (p.Val298Gly)
c.959T>G (p.Val320Gly)
c.968T>G (p.Val323Gly)
1g.21575859T=CA1158019321ALPLc.1124T= (p.Val375=)
n.393T=
c.199T=
c.893T= (p.Val298=)
c.959T= (p.Val320=)
c.968T= (p.Val323=)
1g.21575860C>ACA416533318ALPLc.1125C>A (p.Val375=)
n.394C>A
c.200C>A
c.894C>A (p.Val298=)
c.960C>A (p.Val320=)
c.969C>A (p.Val323=)
 gnomAD v4
1g.21575860C=CA1158019322ALPLc.1125C= (p.Val375=)
n.394C=
c.200C=
c.894C= (p.Val298=)
c.960C= (p.Val320=)
c.969C= (p.Val323=)
1g.21575860C>GCA19070301ALPLc.1125C>G (p.Val375=)
n.394C>G
c.200C>G
c.894C>G (p.Val298=)
c.960C>G (p.Val320=)
c.969C>G (p.Val323=)
 dbSNP
1g.21575860C>TCA416533315ALPLc.1125C>T (p.Val375=)
n.394C>T
c.200C>T
c.894C>T (p.Val298=)
c.960C>T (p.Val320=)
c.969C>T (p.Val323=)
1g.21575861A>CCA338881318ALPLc.1126A>C (p.Thr376Pro)
n.395A>C
c.201A>C
c.895A>C (p.Thr299Pro)
c.961A>C (p.Thr321Pro)
c.970A>C (p.Thr324Pro)
1g.21575861A>GCA338881320ALPLc.1126A>G (p.Thr376Ala)
n.395A>G
c.201A>G
c.895A>G (p.Thr299Ala)
c.961A>G (p.Thr321Ala)
c.970A>G (p.Thr324Ala)
 gnomAD v4
1g.21575861A>TCA338881322ALPLc.1126A>T (p.Thr376Ser)
n.395A>T
c.201A>T
c.895A>T (p.Thr299Ser)
c.961A>T (p.Thr321Ser)
c.970A>T (p.Thr324Ser)
1g.21575862C>ACA338881324ALPLc.1127C>A (p.Thr376Asn)
n.396C>A
c.202C>A
c.896C>A (p.Thr299Asn)
c.962C>A (p.Thr321Asn)
c.971C>A (p.Thr324Asn)
1g.21575862C>GCA338881325ALPLc.1127C>G (p.Thr376Ser)
n.396C>G
c.202C>G
c.896C>G (p.Thr299Ser)
c.962C>G (p.Thr321Ser)
c.971C>G (p.Thr324Ser)
 gnomAD v4
1g.21575862C>TCA338881327ALPLc.1127C>T (p.Thr376Ile)
n.396C>T
c.202C>T
c.896C>T (p.Thr299Ile)
c.962C>T (p.Thr321Ile)
c.971C>T (p.Thr324Ile)
1g.21575863T>ACA416533330ALPLc.1128T>A (p.Thr376=)
n.397T>A
c.203T>A
c.897T>A (p.Thr299=)
c.963T>A (p.Thr321=)
c.972T>A (p.Thr324=)
1g.21575863T>CCA416533327ALPLc.1128T>C (p.Thr376=)
n.397T>C
c.203T>C
c.897T>C (p.Thr299=)
c.963T>C (p.Thr321=)
c.972T>C (p.Thr324=)
1g.21575863T>GCA416533331ALPLc.1128T>G (p.Thr376=)
n.397T>G
c.203T>G
c.897T>G (p.Thr299=)
c.963T>G (p.Thr321=)
c.972T>G (p.Thr324=)
1g.21575864G>ACA338881329ALPLc.1129G>A (p.Ala377Thr)
n.398G>A
c.204G>A
c.898G>A (p.Ala300Thr)
c.964G>A (p.Ala322Thr)
c.973G>A (p.Ala325Thr)
1g.21575864G>CCA338881333ALPLc.1129G>C (p.Ala377Pro)
n.398G>C
c.204G>C
c.898G>C (p.Ala300Pro)
c.964G>C (p.Ala322Pro)
c.973G>C (p.Ala325Pro)
1g.21575864G>TCA338881331ALPLc.1129G>T (p.Ala377Ser)
n.398G>T
c.204G>T
c.898G>T (p.Ala300Ser)
c.964G>T (p.Ala322Ser)
c.973G>T (p.Ala325Ser)
 COSMIC
1g.21575865C>ACA338881334ALPLc.1130C>A (p.Ala377Glu)
n.399C>A
c.205C>A
c.899C>A (p.Ala300Glu)
c.965C>A (p.Ala322Glu)
c.974C>A (p.Ala325Glu)
1g.21575865C=CA1158019323ALPLc.1130C= (p.Ala377=)
n.399C=
c.205C=
c.899C= (p.Ala300=)
c.965C= (p.Ala322=)
c.974C= (p.Ala325=)
1g.21575865C>GCA338881335ALPLc.1130C>G (p.Ala377Gly)
n.399C>G
c.205C>G
c.899C>G (p.Ala300Gly)
c.965C>G (p.Ala322Gly)
c.974C>G (p.Ala325Gly)
1g.21575865C>TCA666737ALPLc.1130C>T (p.Ala377Val)
n.399C>T
c.205C>T
c.899C>T (p.Ala300Val)
c.965C>T (p.Ala322Val)
c.974C>T (p.Ala325Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.21575866G>ACA666738ALPLc.1131G>A (p.Ala377=)
n.400G>A
c.206G>A
c.900G>A (p.Ala300=)
c.966G>A (p.Ala322=)
c.975G>A (p.Ala325=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575866G>CCA416533345ALPLc.1131G>C (p.Ala377=)
n.400G>C
c.206G>C
c.900G>C (p.Ala300=)
c.966G>C (p.Ala322=)
c.975G>C (p.Ala325=)
1g.21575866G=CA1158019324ALPLc.1131G= (p.Ala377=)
n.400G=
c.206G=
c.900G= (p.Ala300=)
c.966G= (p.Ala322=)
c.975G= (p.Ala325=)
1g.21575866G>TCA416533343ALPLc.1131G>T (p.Ala377=)
n.400G>T
c.206G>T
c.900G>T (p.Ala300=)
c.966G>T (p.Ala322=)
c.975G>T (p.Ala325=)
 COSMIC
1g.21575867G>ACA338881338ALPLc.1132G>A (p.Asp378Asn)
n.401G>A
c.207G>A
c.901G>A (p.Asp301Asn)
c.967G>A (p.Asp323Asn)
c.976G>A (p.Asp326Asn)
1g.21575867G>CCA338881339ALPLc.1132G>C (p.Asp378His)
n.401G>C
c.207G>C
c.901G>C (p.Asp301His)
c.967G>C (p.Asp323His)
c.976G>C (p.Asp326His)
 ClinVar dbSNP gnomAD v4
1g.21575867G=CA1158019325ALPLc.1132G= (p.Asp378=)
n.401G=
c.207G=
c.901G= (p.Asp301=)
c.967G= (p.Asp323=)
c.976G= (p.Asp326=)
1g.21575867G>TCA338881341ALPLc.1132G>T (p.Asp378Tyr)
n.401G>T
c.207G>T
c.901G>T (p.Asp301Tyr)
c.967G>T (p.Asp323Tyr)
c.976G>T (p.Asp326Tyr)
 ClinVar
1g.21575868A=CA1141580648ALPLc.1133A= (p.Asp378=)
n.402A=
c.208A=
c.902A= (p.Asp301=)
c.968A= (p.Asp323=)
c.977A= (p.Asp326=)
1g.21575868A>CCA338881343ALPLc.1133A>C (p.Asp378Ala)
n.402A>C
c.208A>C
c.902A>C (p.Asp301Ala)
c.968A>C (p.Asp323Ala)
c.977A>C (p.Asp326Ala)
1g.21575868A>GCA338881345ALPLc.1133A>G (p.Asp378Gly)
n.402A>G
c.208A>G
c.902A>G (p.Asp301Gly)
c.968A>G (p.Asp323Gly)
c.977A>G (p.Asp326Gly)
1g.21575868A>TCA256928ALPLc.1133A>T (p.Asp378Val)
n.402A>T
c.208A>T
c.902A>T (p.Asp301Val)
c.968A>T (p.Asp323Val)
c.977A>T (p.Asp326Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21575869C>ACA338881347ALPLc.1134C>A (p.Asp378Glu)
n.403C>A
c.209C>A
c.903C>A (p.Asp301Glu)
c.969C>A (p.Asp323Glu)
c.978C>A (p.Asp326Glu)
1g.21575869C>GCA338881349ALPLc.1134C>G (p.Asp378Glu)
n.403C>G
c.209C>G
c.903C>G (p.Asp301Glu)
c.969C>G (p.Asp323Glu)
c.978C>G (p.Asp326Glu)
1g.21575869C>TCA416533355ALPLc.1134C>T (p.Asp378=)
n.403C>T
c.209C>T
c.903C>T (p.Asp301=)
c.969C>T (p.Asp323=)
c.978C>T (p.Asp326=)
 gnomAD v4
1g.21575870C>ACA338881351ALPLc.1135C>A (p.His379Asn)
n.404C>A
c.210C>A
c.904C>A (p.His302Asn)
c.970C>A (p.His324Asn)
c.979C>A (p.His327Asn)
1g.21575870C>GCA338881354ALPLc.1135C>G (p.His379Asp)
n.404C>G
c.210C>G
c.904C>G (p.His302Asp)
c.970C>G (p.His324Asp)
c.979C>G (p.His327Asp)
1g.21575870C>TCA338881352ALPLc.1135C>T (p.His379Tyr)
n.404C>T
c.210C>T
c.904C>T (p.His302Tyr)
c.970C>T (p.His324Tyr)
c.979C>T (p.His327Tyr)
1g.21575871A>CCA338881356ALPLc.1136A>C (p.His379Pro)
n.405A>C
c.211A>C
c.905A>C (p.His302Pro)
c.971A>C (p.His324Pro)
c.980A>C (p.His327Pro)
1g.21575871A>GCA338881357ALPLc.1136A>G (p.His379Arg)
n.405A>G
c.211A>G
c.905A>G (p.His302Arg)
c.971A>G (p.His324Arg)
c.980A>G (p.His327Arg)
1g.21575871A>TCA338881359ALPLc.1136A>T (p.His379Leu)
n.405A>T
c.211A>T
c.905A>T (p.His302Leu)
c.971A>T (p.His324Leu)
c.980A>T (p.His327Leu)
1g.21575872T>ACA338881360ALPLc.1137T>A (p.His379Gln)
n.406T>A
c.212T>A
c.906T>A (p.His302Gln)
c.972T>A (p.His324Gln)
c.981T>A (p.His327Gln)
1g.21575872T>CCA19070333ALPLc.1137T>C (p.His379=)
n.406T>C
c.212T>C
c.906T>C (p.His302=)
c.972T>C (p.His324=)
c.981T>C (p.His327=)
 ClinVar dbSNP gnomAD v4
1g.21575872T>GCA338881362ALPLc.1137T>G (p.His379Gln)
n.406T>G
c.212T>G
c.906T>G (p.His302Gln)
c.972T>G (p.His324Gln)
c.981T>G (p.His327Gln)
 ClinVar
1g.21575872T=CA1158019326ALPLc.1137T= (p.His379=)
n.406T=
c.212T=
c.906T= (p.His302=)
c.972T= (p.His324=)
c.981T= (p.His327=)
1g.21575873T>ACA338881364ALPLc.1138T>A (p.Ser380Thr)
n.407T>A
c.213T>A
c.907T>A (p.Ser303Thr)
c.973T>A (p.Ser325Thr)
c.982T>A (p.Ser328Thr)
1g.21575873T>CCA338881365ALPLc.1138T>C (p.Ser380Pro)
n.407T>C
c.213T>C
c.907T>C (p.Ser303Pro)
c.973T>C (p.Ser325Pro)
c.982T>C (p.Ser328Pro)
1g.21575873T>GCA338881366ALPLc.1138T>G (p.Ser380Ala)
n.407T>G
c.213T>G
c.907T>G (p.Ser303Ala)
c.973T>G (p.Ser325Ala)
c.982T>G (p.Ser328Ala)
1g.21575873_21575874delinsTCCA1158019327ALPLc.1138_1139delinsTC (p.Ser380=)
n.407_408delinsTC
c.213_214delinsTC
c.907_908delinsTC (p.Ser303=)
c.973_974delinsTC (p.Ser325=)
c.982_983delinsTC (p.Ser328=)
1g.21575874C>ACA338881367ALPLc.1139C>A (p.Ser380Tyr)
n.408C>A
c.214C>A
c.908C>A (p.Ser303Tyr)
c.974C>A (p.Ser325Tyr)
c.983C>A (p.Ser328Tyr)
1g.21575874C=CA1158019328ALPLc.1139C= (p.Ser380=)
n.408C=
c.214C=
c.908C= (p.Ser303=)
c.974C= (p.Ser325=)
c.983C= (p.Ser328=)
1g.21575874C>GCA338881369ALPLc.1139C>G (p.Ser380Cys)
n.408C>G
c.214C>G
c.908C>G (p.Ser303Cys)
c.974C>G (p.Ser325Cys)
c.983C>G (p.Ser328Cys)
1g.21575874C>TCA338881370ALPLc.1139C>T (p.Ser380Phe)
n.408C>T
c.214C>T
c.908C>T (p.Ser303Phe)
c.974C>T (p.Ser325Phe)
c.983C>T (p.Ser328Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.21575876delCA666739ALPLc.1141del (p.His381ThrfsTer22)
n.410del
c.216del
c.910del (p.His304ThrfsTer22)
c.976del (p.His326ThrfsTer22)
c.985del (p.His329ThrfsTer22)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575875C>ACA416533377ALPLc.1140C>A (p.Ser380=)
n.409C>A
c.215C>A
c.909C>A (p.Ser303=)
c.975C>A (p.Ser325=)
c.984C>A (p.Ser328=)
1g.21575875C>GCA416533380ALPLc.1140C>G (p.Ser380=)
n.409C>G
c.215C>G
c.909C>G (p.Ser303=)
c.975C>G (p.Ser325=)
c.984C>G (p.Ser328=)
1g.21575875C>TCA416533379ALPLc.1140C>T (p.Ser380=)
n.409C>T
c.215C>T
c.909C>T (p.Ser303=)
c.975C>T (p.Ser325=)
c.984C>T (p.Ser328=)
1g.21575876C>ACA338881374ALPLc.1141C>A (p.His381Asn)
n.410C>A
c.216C>A
c.910C>A (p.His304Asn)
c.976C>A (p.His326Asn)
c.985C>A (p.His329Asn)
1g.21575876C>GCA338881372ALPLc.1141C>G (p.His381Asp)
n.410C>G
c.216C>G
c.910C>G (p.His304Asp)
c.976C>G (p.His326Asp)
c.985C>G (p.His329Asp)
1g.21575876C>TCA338881371ALPLc.1141C>T (p.His381Tyr)
n.410C>T
c.216C>T
c.910C>T (p.His304Tyr)
c.976C>T (p.His326Tyr)
c.985C>T (p.His329Tyr)
1g.21575877A=CA1158019329ALPLc.1142A= (p.His381=)
n.411A=
c.217A=
c.911A= (p.His304=)
c.977A= (p.His326=)
c.986A= (p.His329=)
1g.21575877A>CCA338881375ALPLc.1142A>C (p.His381Pro)
n.411A>C
c.217A>C
c.911A>C (p.His304Pro)
c.977A>C (p.His326Pro)
c.986A>C (p.His329Pro)
1g.21575877A>GCA338881377ALPLc.1142A>G (p.His381Arg)
n.411A>G
c.217A>G
c.911A>G (p.His304Arg)
c.977A>G (p.His326Arg)
c.986A>G (p.His329Arg)
 ClinVar dbSNP
1g.21575877A>TCA338881378ALPLc.1142A>T (p.His381Leu)
n.411A>T
c.217A>T
c.911A>T (p.His304Leu)
c.977A>T (p.His326Leu)
c.986A>T (p.His329Leu)

Number of alleles fetched