| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21575768G>A | CA338881046 | ALPL | c.1033G>A (p.Ala345Thr) n.302G>A c.108G>A c.802G>A (p.Ala268Thr) c.868G>A (p.Ala290Thr) c.877G>A (p.Ala293Thr) | |
| 1 | g.21575768G>C | CA338881047 | ALPL | c.1033G>C (p.Ala345Pro) n.302G>C c.108G>C c.802G>C (p.Ala268Pro) c.868G>C (p.Ala290Pro) c.877G>C (p.Ala293Pro) | |
| 1 | g.21575768G>T | CA338881048 | ALPL | c.1033G>T (p.Ala345Ser) n.302G>T c.108G>T c.802G>T (p.Ala268Ser) c.868G>T (p.Ala290Ser) c.877G>T (p.Ala293Ser) | |
| 1 | g.21575769C>A | CA338881049 | ALPL | c.1034C>A (p.Ala345Asp) n.303C>A c.109C>A c.803C>A (p.Ala268Asp) c.869C>A (p.Ala290Asp) c.878C>A (p.Ala293Asp) | |
| 1 | g.21575769C= | CA1158019290 | ALPL | c.1034C= (p.Ala345=) n.303C= c.109C= c.803C= (p.Ala268=) c.869C= (p.Ala290=) c.878C= (p.Ala293=) | |
| 1 | g.21575769C>G | CA338881050 | ALPL | c.1034C>G (p.Ala345Gly) n.303C>G c.109C>G c.803C>G (p.Ala268Gly) c.869C>G (p.Ala290Gly) c.878C>G (p.Ala293Gly) | |
| 1 | g.21575769C>T | CA338881051 | ALPL | c.1034C>T (p.Ala345Val) n.303C>T c.109C>T c.803C>T (p.Ala268Val) c.869C>T (p.Ala290Val) c.878C>T (p.Ala293Val) | ClinVar dbSNP |
| 1 | g.21575770C>A | CA416532918 | ALPL | c.1035C>A (p.Ala345=) n.304C>A c.110C>A c.804C>A (p.Ala268=) c.870C>A (p.Ala290=) c.879C>A (p.Ala293=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21575770C= | CA1158019291 | ALPL | c.1035C= (p.Ala345=) n.304C= c.110C= c.804C= (p.Ala268=) c.870C= (p.Ala290=) c.879C= (p.Ala293=) | |
| 1 | g.21575770C>G | CA416532916 | ALPL | c.1035C>G (p.Ala345=) n.304C>G c.110C>G c.804C>G (p.Ala268=) c.870C>G (p.Ala290=) c.879C>G (p.Ala293=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21575770C>T | CA416532914 | ALPL | c.1035C>T (p.Ala345=) n.304C>T c.110C>T c.804C>T (p.Ala268=) c.870C>T (p.Ala290=) c.879C>T (p.Ala293=) | ClinVar dbSNP |
| 1 | g.21575771A>C | CA338881052 | ALPL | c.1036A>C (p.Lys346Gln) n.305A>C c.111A>C c.805A>C (p.Lys269Gln) c.871A>C (p.Lys291Gln) c.880A>C (p.Lys294Gln) | |
| 1 | g.21575771A>G | CA338881053 | ALPL | c.1036A>G (p.Lys346Glu) n.305A>G c.111A>G c.805A>G (p.Lys269Glu) c.871A>G (p.Lys291Glu) c.880A>G (p.Lys294Glu) | |
| 1 | g.21575771A>T | CA338881054 | ALPL | c.1036A>T (p.Lys346Ter) n.305A>T c.111A>T c.805A>T (p.Lys269Ter) c.871A>T (p.Lys291Ter) c.880A>T (p.Lys294Ter) | |
| 1 | g.21575772A= | CA1158019292 | ALPL | c.1037A= (p.Lys346=) n.306A= c.112A= c.806A= (p.Lys269=) c.872A= (p.Lys291=) c.881A= (p.Lys294=) | |
| 1 | g.21575772A>C | CA338881055 | ALPL | c.1037A>C (p.Lys346Thr) n.306A>C c.112A>C c.806A>C (p.Lys269Thr) c.872A>C (p.Lys291Thr) c.881A>C (p.Lys294Thr) | |
| 1 | g.21575772A>G | CA338881056 | ALPL | c.1037A>G (p.Lys346Arg) n.306A>G c.112A>G c.806A>G (p.Lys269Arg) c.872A>G (p.Lys291Arg) c.881A>G (p.Lys294Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21575772A>T | CA338881057 | ALPL | c.1037A>T (p.Lys346Met) n.306A>T c.112A>T c.806A>T (p.Lys269Met) c.872A>T (p.Lys291Met) c.881A>T (p.Lys294Met) | |
| 1 | g.21575773G>A | CA416532930 | ALPL | c.1038G>A (p.Lys346=) n.307G>A c.113G>A c.807G>A (p.Lys269=) c.873G>A (p.Lys291=) c.882G>A (p.Lys294=) | |
| 1 | g.21575773G>C | CA338881058 | ALPL | c.1038G>C (p.Lys346Asn) n.307G>C c.113G>C c.807G>C (p.Lys269Asn) c.873G>C (p.Lys291Asn) c.882G>C (p.Lys294Asn) | |
| 1 | g.21575773G>T | CA338881059 | ALPL | c.1038G>T (p.Lys346Asn) n.307G>T c.113G>T c.807G>T (p.Lys269Asn) c.873G>T (p.Lys291Asn) c.882G>T (p.Lys294Asn) | |
| 1 | g.21575774C>A | CA338881061 | ALPL | c.1039C>A (p.Gln347Lys) n.308C>A c.114C>A c.808C>A (p.Gln270Lys) c.874C>A (p.Gln292Lys) c.883C>A (p.Gln295Lys) | |
| 1 | g.21575774C= | CA1158019294 | ALPL | c.1039C= (p.Gln347=) n.308C= c.114C= c.808C= (p.Gln270=) c.874C= (p.Gln292=) c.883C= (p.Gln295=) | |
| 1 | g.21575774C>G | CA338881062 | ALPL | c.1039C>G (p.Gln347Glu) n.308C>G c.114C>G c.808C>G (p.Gln270Glu) c.874C>G (p.Gln292Glu) c.883C>G (p.Gln295Glu) | |
| 1 | g.21575774C>T | CA338881060 | ALPL | c.1039C>T (p.Gln347Ter) n.308C>T c.114C>T c.808C>T (p.Gln270Ter) c.874C>T (p.Gln292Ter) c.883C>T (p.Gln295Ter) | ClinVar dbSNP COSMIC |
| 1 | g.21575774_21575786delinsCAGGCCCTGCATG | CA1158019293 | ALPL | c.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=) | |
| 1 | g.21575775A>C | CA338881064 | ALPL | c.1040A>C (p.Gln347Pro) n.309A>C c.115A>C c.809A>C (p.Gln270Pro) c.875A>C (p.Gln292Pro) c.884A>C (p.Gln295Pro) | |
| 1 | g.21575775A>G | CA338881065 | ALPL | c.1040A>G (p.Gln347Arg) n.309A>G c.115A>G c.809A>G (p.Gln270Arg) c.875A>G (p.Gln292Arg) c.884A>G (p.Gln295Arg) | |
| 1 | g.21575775A>T | CA338881066 | ALPL | c.1040A>T (p.Gln347Leu) n.309A>T c.115A>T c.809A>T (p.Gln270Leu) c.875A>T (p.Gln292Leu) c.884A>T (p.Gln295Leu) | gnomAD v4 |
| 1 | g.21575779_21575790del | CA666722 | ALPL | c.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 |
| 1 | g.21575776G>A | CA416532945 | ALPL | c.1041G>A (p.Gln347=) n.310G>A c.116G>A c.810G>A (p.Gln270=) c.876G>A (p.Gln292=) c.885G>A (p.Gln295=) | |
| 1 | g.21575776G>C | CA338881069 | ALPL | c.1041G>C (p.Gln347His) n.310G>C c.116G>C c.810G>C (p.Gln270His) c.876G>C (p.Gln292His) c.885G>C (p.Gln295His) | |
| 1 | g.21575776G>T | CA338881070 | ALPL | c.1041G>T (p.Gln347His) n.310G>T c.116G>T c.810G>T (p.Gln270His) c.876G>T (p.Gln292His) c.885G>T (p.Gln295His) | |
| 1 | g.21575777G>A | CA338881075 | ALPL | c.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 |
| 1 | g.21575777G>C | CA338881072 | ALPL | c.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) | |
| 1 | g.21575777G= | CA1158019295 | ALPL | c.1042G= (p.Ala348=) n.311G= c.117G= c.811G= (p.Ala271=) c.877G= (p.Ala293=) c.886G= (p.Ala296=) | |
| 1 | g.21575777G>T | CA338881073 | ALPL | c.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) | |
| 1 | g.21575778C>A | CA338881077 | ALPL | c.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) | |
| 1 | g.21575778C>G | CA338881078 | ALPL | c.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) | |
| 1 | g.21575778C>T | CA338881079 | ALPL | c.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) | |
| 1 | g.21575779C>A | CA416532957 | ALPL | c.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 |
| 1 | g.21575779C>G | CA416532959 | ALPL | c.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=) | |
| 1 | g.21575779C>T | CA416532955 | ALPL | c.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=) | |
| 1 | g.21575780C>A | CA338881081 | ALPL | c.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) | |
| 1 | g.21575780C= | CA1158019296 | ALPL | c.1045C= (p.Leu349=) n.314C= c.120C= c.814C= (p.Leu272=) c.880C= (p.Leu294=) c.889C= (p.Leu297=) | |
| 1 | g.21575780C>G | CA338881082 | ALPL | c.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) | |
| 1 | g.21575780C>T | CA416532964 | ALPL | c.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 |
| 1 | g.21575781T>A | CA338881087 | ALPL | c.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) | |
| 1 | g.21575781T>C | CA338881084 | ALPL | c.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) | |
| 1 | g.21575781T>G | CA338881086 | ALPL | c.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) |