| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120626748A>C | CA414208831 | C1GALT1C1 | c.419T>G (p.Phe140Cys) | |
| X | g.120626748A>G | CA414208828 | C1GALT1C1 | c.419T>C (p.Phe140Ser) | |
| X | g.120626748A>T | CA414208826 | C1GALT1C1 | c.419T>A (p.Phe140Tyr) | |
| X | g.120626749A>C | CA414208833 | C1GALT1C1 | c.418T>G (p.Phe140Val) | |
| X | g.120626749A>G | CA414208835 | C1GALT1C1 | c.418T>C (p.Phe140Leu) | |
| X | g.120626749A>T | CA414208839 | C1GALT1C1 | c.418T>A (p.Phe140Ile) | |
| X | g.120626750C>A | CA10505970 | C1GALT1C1 | c.417G>T (p.Trp139Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626750C= | CA2454930861 | C1GALT1C1 | c.417G= (p.Trp139=) | |
| X | g.120626750C>G | CA414208843 | C1GALT1C1 | c.417G>C (p.Trp139Cys) | |
| X | g.120626750C>T | CA414208845 | C1GALT1C1 | c.417G>A (p.Trp139Ter) | |
| X | g.120626751C>A | CA414208847 | C1GALT1C1 | c.416G>T (p.Trp139Leu) | |
| X | g.120626751C>G | CA414208849 | C1GALT1C1 | c.416G>C (p.Trp139Ser) | |
| X | g.120626751C>T | CA414208851 | C1GALT1C1 | c.416G>A (p.Trp139Ter) | |
| X | g.120626752A>C | CA414208854 | C1GALT1C1 | c.415T>G (p.Trp139Gly) | COSMIC |
| X | g.120626752A>G | CA414208855 | C1GALT1C1 | c.415T>C (p.Trp139Arg) | |
| X | g.120626752A>T | CA414208857 | C1GALT1C1 | c.415T>A (p.Trp139Arg) | |
| X | g.120626753G>A | CA518448442 | C1GALT1C1 | c.414C>T (p.Asn138=) | |
| X | g.120626753G>C | CA414208859 | C1GALT1C1 | c.414C>G (p.Asn138Lys) | |
| X | g.120626753G>T | CA414208860 | C1GALT1C1 | c.414C>A (p.Asn138Lys) | |
| X | g.120626754T>A | CA414208862 | C1GALT1C1 | c.413A>T (p.Asn138Ile) | |
| X | g.120626754T>C | CA414208863 | C1GALT1C1 | c.413A>G (p.Asn138Ser) | |
| X | g.120626754T>G | CA414208861 | C1GALT1C1 | c.413A>C (p.Asn138Thr) | gnomAD v4 |
| X | g.120626755T>A | CA414208865 | C1GALT1C1 | c.412A>T (p.Asn138Tyr) | gnomAD v4 |
| X | g.120626755T>C | CA414208867 | C1GALT1C1 | c.412A>G (p.Asn138Asp) | |
| X | g.120626755T>G | CA414208868 | C1GALT1C1 | c.412A>C (p.Asn138His) | |
| X | g.120626756G>A | CA518448446 | C1GALT1C1 | c.411C>T (p.Tyr137=) | gnomAD v4 |
| X | g.120626756G>C | CA414208870 | C1GALT1C1 | c.411C>G (p.Tyr137Ter) | |
| X | g.120626756G>T | CA414208872 | C1GALT1C1 | c.411C>A (p.Tyr137Ter) | |
| X | g.120626757T>A | CA414208875 | C1GALT1C1 | c.410A>T (p.Tyr137Phe) | |
| X | g.120626757T>C | CA414208877 | C1GALT1C1 | c.410A>G (p.Tyr137Cys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626757T>G | CA414208879 | C1GALT1C1 | c.410A>C (p.Tyr137Ser) | |
| X | g.120626757T= | CA2454930863 | C1GALT1C1 | c.410A= (p.Tyr137=) | |
| X | g.120626758A>C | CA414208881 | C1GALT1C1 | c.409T>G (p.Tyr137Asp) | |
| X | g.120626758A>G | CA414208883 | C1GALT1C1 | c.409T>C (p.Tyr137His) | |
| X | g.120626758A>T | CA414208888 | C1GALT1C1 | c.409T>A (p.Tyr137Asn) | |
| X | g.120626759T>A | CA414208891 | C1GALT1C1 | c.408A>T (p.Gln136His) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626759T>C | CA518448454 | C1GALT1C1 | c.408A>G (p.Gln136=) | |
| X | g.120626759T>G | CA414208893 | C1GALT1C1 | c.408A>C (p.Gln136His) | |
| X | g.120626759T= | CA2454930865 | C1GALT1C1 | c.408A= (p.Gln136=) | |
| X | g.120626760T>A | CA414208896 | C1GALT1C1 | c.407A>T (p.Gln136Leu) | |
| X | g.120626760T>C | CA414208904 | C1GALT1C1 | c.407A>G (p.Gln136Arg) | |
| X | g.120626760T>G | CA414208902 | C1GALT1C1 | c.407A>C (p.Gln136Pro) | |
| X | g.120626761G>A | CA414208906 | C1GALT1C1 | c.406C>T (p.Gln136Ter) | |
| X | g.120626761G>C | CA414208908 | C1GALT1C1 | c.406C>G (p.Gln136Glu) | |
| X | g.120626761G>T | CA414208910 | C1GALT1C1 | c.406C>A (p.Gln136Lys) | |
| X | g.120626762G>A | CA518448459 | C1GALT1C1 | c.405C>T (p.Asp135=) | gnomAD v4 |
| X | g.120626762G>C | CA414208911 | C1GALT1C1 | c.405C>G (p.Asp135Glu) | gnomAD v4 |
| X | g.120626762G>T | CA414208913 | C1GALT1C1 | c.405C>A (p.Asp135Glu) | |
| X | g.120626763T>A | CA414208918 | C1GALT1C1 | c.404A>T (p.Asp135Val) | |
| X | g.120626763T>C | CA414208920 | C1GALT1C1 | c.404A>G (p.Asp135Gly) | |
| X | g.120626763T>G | CA414208923 | C1GALT1C1 | c.404A>C (p.Asp135Ala) | |
| X | g.120626764C>A | CA414208926 | C1GALT1C1 | c.403G>T (p.Asp135Tyr) | dbSNP gnomAD v4 |
| X | g.120626764C= | CA2454930867 | C1GALT1C1 | c.403G= (p.Asp135=) | |
| X | g.120626764C>G | CA414208927 | C1GALT1C1 | c.403G>C (p.Asp135His) | |
| X | g.120626764C>T | CA414208929 | C1GALT1C1 | c.403G>A (p.Asp135Asn) | |
| X | g.120626765T>A | CA414208931 | C1GALT1C1 | c.402A>T (p.Arg134Ser) | |
| X | g.120626765T>C | CA518448467 | C1GALT1C1 | c.402A>G (p.Arg134=) | |
| X | g.120626765T>G | CA414208933 | C1GALT1C1 | c.402A>C (p.Arg134Ser) | |
| X | g.120626766C>A | CA414208936 | C1GALT1C1 | c.401G>T (p.Arg134Ile) | |
| X | g.120626766C>G | CA414208939 | C1GALT1C1 | c.401G>C (p.Arg134Thr) | |
| X | g.120626766C>T | CA414208938 | C1GALT1C1 | c.401G>A (p.Arg134Lys) | |
| X | g.120626767T>A | CA414208940 | C1GALT1C1 | c.400A>T (p.Arg134Ter) | |
| X | g.120626767T>C | CA414208941 | C1GALT1C1 | c.400A>G (p.Arg134Gly) | |
| X | g.120626767T>G | CA518448563 | C1GALT1C1 | c.400A>C (p.Arg134=) | |
| X | g.120626768A= | CA2454930868 | C1GALT1C1 | c.399T= (p.Tyr133=) | |
| X | g.120626768A>C | CA414208942 | C1GALT1C1 | c.399T>G (p.Tyr133Ter) | |
| X | g.120626768A>G | CA334144991 | C1GALT1C1 | c.399T>C (p.Tyr133=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626768A>T | CA414208944 | C1GALT1C1 | c.399T>A (p.Tyr133Ter) | |
| X | g.120626769T>A | CA414208945 | C1GALT1C1 | c.398A>T (p.Tyr133Phe) | |
| X | g.120626769T>C | CA414208947 | C1GALT1C1 | c.398A>G (p.Tyr133Cys) | |
| X | g.120626769T>G | CA414208950 | C1GALT1C1 | c.398A>C (p.Tyr133Ser) | |
| X | g.120626770A>C | CA414208956 | C1GALT1C1 | c.397T>G (p.Tyr133Asp) | |
| X | g.120626770A>G | CA414208957 | C1GALT1C1 | c.397T>C (p.Tyr133His) | |
| X | g.120626770A>T | CA414208958 | C1GALT1C1 | c.397T>A (p.Tyr133Asn) | |
| X | g.120626771C>A | CA414208959 | C1GALT1C1 | c.396G>T (p.Lys132Asn) | |
| X | g.120626771C>G | CA414208960 | C1GALT1C1 | c.396G>C (p.Lys132Asn) | gnomAD v4 |
| X | g.120626771C>T | CA518448567 | C1GALT1C1 | c.396G>A (p.Lys132=) | |
| X | g.120626772T>A | CA414208963 | C1GALT1C1 | c.395A>T (p.Lys132Met) | |
| X | g.120626772T>C | CA414208967 | C1GALT1C1 | c.395A>G (p.Lys132Arg) | |
| X | g.120626772T>G | CA414208965 | C1GALT1C1 | c.395A>C (p.Lys132Thr) | |
| X | g.120626773T>A | CA414208969 | C1GALT1C1 | c.394A>T (p.Lys132Ter) | |
| X | g.120626773T>C | CA414208971 | C1GALT1C1 | c.394A>G (p.Lys132Glu) | |
| X | g.120626773T>G | CA414208972 | C1GALT1C1 | c.394A>C (p.Lys132Gln) | |
| X | g.120626774A= | CA2454930869 | C1GALT1C1 | c.393T= (p.Asp131=) | |
| X | g.120626774A>C | CA414208974 | C1GALT1C1 | c.393T>G (p.Asp131Glu) | |
| X | g.120626774A>G | CA518448572 | C1GALT1C1 | c.393T>C (p.Asp131=) | |
| X | g.120626774A>T | CA121173 | C1GALT1C1 | c.393T>A (p.Asp131Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626775T>A | CA414208977 | C1GALT1C1 | c.392A>T (p.Asp131Val) | |
| X | g.120626775T>C | CA414208980 | C1GALT1C1 | c.392A>G (p.Asp131Gly) | dbSNP gnomAD v4 |
| X | g.120626775T>G | CA414208982 | C1GALT1C1 | c.392A>C (p.Asp131Ala) | |
| X | g.120626775T= | CA2454930870 | C1GALT1C1 | c.392A= (p.Asp131=) | |
| X | g.120626776C>A | CA414208983 | C1GALT1C1 | c.391G>T (p.Asp131Tyr) | |
| X | g.120626776C= | CA2454930872 | C1GALT1C1 | c.391G= (p.Asp131=) | |
| X | g.120626776C>G | CA414208985 | C1GALT1C1 | c.391G>C (p.Asp131His) | |
| X | g.120626776C>T | CA10505971 | C1GALT1C1 | c.391G>A (p.Asp131Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626777A>C | CA414208987 | C1GALT1C1 | c.390T>G (p.Phe130Leu) | |
| X | g.120626777A>G | CA518448577 | C1GALT1C1 | c.390T>C (p.Phe130=) | |
| X | g.120626777A>T | CA414208989 | C1GALT1C1 | c.390T>A (p.Phe130Leu) | |
| X | g.120626778A>C | CA414208991 | C1GALT1C1 | c.389T>G (p.Phe130Cys) | |
| X | g.120626778A>G | CA414208993 | C1GALT1C1 | c.389T>C (p.Phe130Ser) | |
| X | g.120626778A>T | CA414208995 | C1GALT1C1 | c.389T>A (p.Phe130Tyr) | |
| X | g.120626779A>C | CA414208996 | C1GALT1C1 | c.388T>G (p.Phe130Val) | |
| X | g.120626779A>G | CA414208998 | C1GALT1C1 | c.388T>C (p.Phe130Leu) | |
| X | g.120626779A>T | CA414208999 | C1GALT1C1 | c.388T>A (p.Phe130Ile) | |
| X | g.120626780G>A | CA518448585 | C1GALT1C1 | c.387C>T (p.Ala129=) | gnomAD v4 |
| X | g.120626780G>C | CA518448588 | C1GALT1C1 | c.387C>G (p.Ala129=) | |
| X | g.120626780G>T | CA518448589 | C1GALT1C1 | c.387C>A (p.Ala129=) | |
| X | g.120626781G>A | CA414209009 | C1GALT1C1 | c.386C>T (p.Ala129Val) | |
| X | g.120626781G>C | CA414209006 | C1GALT1C1 | c.386C>G (p.Ala129Gly) | |
| X | g.120626781G>T | CA414209007 | C1GALT1C1 | c.386C>A (p.Ala129Asp) | |
| X | g.120626782C>A | CA414209011 | C1GALT1C1 | c.385G>T (p.Ala129Ser) | |
| X | g.120626782C= | CA2454930875 | C1GALT1C1 | c.385G= (p.Ala129=) | |
| X | g.120626782C>G | CA414209016 | C1GALT1C1 | c.385G>C (p.Ala129Pro) | |
| X | g.120626782C>T | CA10505972 | C1GALT1C1 | c.385G>A (p.Ala129Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.120626783G>A | CA334145003 | C1GALT1C1 | c.384C>T (p.Tyr128=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.120626783G>C | CA414209020 | C1GALT1C1 | c.384C>G (p.Tyr128Ter) | |
| X | g.120626783G= | CA2454930877 | C1GALT1C1 | c.384C= (p.Tyr128=) | |
| X | g.120626783G>T | CA414209021 | C1GALT1C1 | c.384C>A (p.Tyr128Ter) | |
| X | g.120626784T>A | CA414209025 | C1GALT1C1 | c.383A>T (p.Tyr128Phe) | gnomAD v4 |
| X | g.120626784T>C | CA414209028 | C1GALT1C1 | c.383A>G (p.Tyr128Cys) | |
| X | g.120626784T>G | CA414209026 | C1GALT1C1 | c.383A>C (p.Tyr128Ser) | |
| X | g.120626785A>C | CA414209030 | C1GALT1C1 | c.382T>G (p.Tyr128Asp) | |
| X | g.120626785A>G | CA414209032 | C1GALT1C1 | c.382T>C (p.Tyr128His) | |
| X | g.120626785A>T | CA414209035 | C1GALT1C1 | c.382T>A (p.Tyr128Asn) | |
| X | g.120626786T>A | CA414209037 | C1GALT1C1 | c.381A>T (p.Lys127Asn) | |
| X | g.120626786T>C | CA518448598 | C1GALT1C1 | c.381A>G (p.Lys127=) | |
| X | g.120626786T>G | CA414209039 | C1GALT1C1 | c.381A>C (p.Lys127Asn) | |
| X | g.120626787T>A | CA414209042 | C1GALT1C1 | c.380A>T (p.Lys127Ile) | |
| X | g.120626787T>C | CA414209043 | C1GALT1C1 | c.380A>G (p.Lys127Arg) | |
| X | g.120626787T>G | CA414209044 | C1GALT1C1 | c.380A>C (p.Lys127Thr) | |
| X | g.120626788T>A | CA414209045 | C1GALT1C1 | c.379A>T (p.Lys127Ter) | |
| X | g.120626788T>C | CA414209046 | C1GALT1C1 | c.379A>G (p.Lys127Glu) | |
| X | g.120626788T>G | CA414209049 | C1GALT1C1 | c.379A>C (p.Lys127Gln) | |
| X | g.120626789G>A | CA518448604 | C1GALT1C1 | c.378C>T (p.Tyr126=) | |
| X | g.120626789G>C | CA414209051 | C1GALT1C1 | c.378C>G (p.Tyr126Ter) | |
| X | g.120626789G>T | CA414209053 | C1GALT1C1 | c.378C>A (p.Tyr126Ter) | |
| X | g.120626790T>A | CA414209055 | C1GALT1C1 | c.377A>T (p.Tyr126Phe) | |
| X | g.120626790T>C | CA414209059 | C1GALT1C1 | c.377A>G (p.Tyr126Cys) | |
| X | g.120626790T>G | CA414209056 | C1GALT1C1 | c.377A>C (p.Tyr126Ser) | |
| X | g.120626791A>C | CA414209061 | C1GALT1C1 | c.376T>G (p.Tyr126Asp) | |
| X | g.120626791A>G | CA414209065 | C1GALT1C1 | c.376T>C (p.Tyr126His) | |
| X | g.120626791A>T | CA414209063 | C1GALT1C1 | c.376T>A (p.Tyr126Asn) | |
| X | g.120626792A>C | CA518448610 | C1GALT1C1 | c.375T>G (p.Ala125=) | |
| X | g.120626792A>G | CA518448611 | C1GALT1C1 | c.375T>C (p.Ala125=) | |
| X | g.120626792A>T | CA518448613 | C1GALT1C1 | c.375T>A (p.Ala125=) | |
| X | g.120626793G>A | CA414209067 | C1GALT1C1 | c.374C>T (p.Ala125Val) | |
| X | g.120626793G>C | CA414209069 | C1GALT1C1 | c.374C>G (p.Ala125Gly) | |
| X | g.120626793G>T | CA414209072 | C1GALT1C1 | c.374C>A (p.Ala125Asp) | |
| X | g.120626794C>A | CA414209075 | C1GALT1C1 | c.373G>T (p.Ala125Ser) | |
| X | g.120626794C>G | CA414209077 | C1GALT1C1 | c.373G>C (p.Ala125Pro) | |
| X | g.120626794C>T | CA414209078 | C1GALT1C1 | c.373G>A (p.Ala125Thr) | |
| X | g.120626795T>A | CA414209080 | C1GALT1C1 | c.372A>T (p.Lys124Asn) | |
| X | g.120626795T>C | CA518448617 | C1GALT1C1 | c.372A>G (p.Lys124=) | |
| X | g.120626795T>G | CA414209081 | C1GALT1C1 | c.372A>C (p.Lys124Asn) | |
| X | g.120626796T>A | CA414209084 | C1GALT1C1 | c.371A>T (p.Lys124Ile) | |
| X | g.120626796T>C | CA414209087 | C1GALT1C1 | c.371A>G (p.Lys124Arg) | dbSNP gnomAD v4 |
| X | g.120626796T>G | CA414209088 | C1GALT1C1 | c.371A>C (p.Lys124Thr) | |
| X | g.120626796T= | CA2454930879 | C1GALT1C1 | c.371A= (p.Lys124=) | |
| X | g.120626797T>A | CA414209094 | C1GALT1C1 | c.370A>T (p.Lys124Ter) | |
| X | g.120626797T>C | CA414209091 | C1GALT1C1 | c.370A>G (p.Lys124Glu) | |
| X | g.120626797T>G | CA414209093 | C1GALT1C1 | c.370A>C (p.Lys124Gln) | |
| X | g.120626798T>A | CA414209096 | C1GALT1C1 | c.369A>T (p.Arg123Ser) | |
| X | g.120626798T>C | CA518448621 | C1GALT1C1 | c.369A>G (p.Arg123=) | |
| X | g.120626798T>G | CA414209097 | C1GALT1C1 | c.369A>C (p.Arg123Ser) | |
| X | g.120626798_120626799insACA | CA2823267476 | C1GALT1C1 | c.368_369insTGT (p.Arg123delinsSerVal) | |
| X | g.120626799C>A | CA414209099 | C1GALT1C1 | c.368G>T (p.Arg123Ile) | |
| X | g.120626799C= | CA2454930881 | C1GALT1C1 | c.368G= (p.Arg123=) | |
| X | g.120626799C>G | CA414209101 | C1GALT1C1 | c.368G>C (p.Arg123Thr) | gnomAD v4 |
| X | g.120626799C>T | CA414209103 | C1GALT1C1 | c.368G>A (p.Arg123Lys) | dbSNP |
| X | g.120626800T>A | CA414209105 | C1GALT1C1 | c.367A>T (p.Arg123Ter) | |
| X | g.120626800T>C | CA414209106 | C1GALT1C1 | c.367A>G (p.Arg123Gly) | |
| X | g.120626800T>G | CA518448625 | C1GALT1C1 | c.367A>C (p.Arg123=) | |
| X | g.120626801C>A | CA414209108 | C1GALT1C1 | c.366G>T (p.Met122Ile) | |
| X | g.120626801C>G | CA414209110 | C1GALT1C1 | c.366G>C (p.Met122Ile) | |
| X | g.120626801C>T | CA414209112 | C1GALT1C1 | c.366G>A (p.Met122Ile) | COSMIC |
| X | g.120626802A>C | CA414209115 | C1GALT1C1 | c.365T>G (p.Met122Arg) | |
| X | g.120626802A>G | CA414209117 | C1GALT1C1 | c.365T>C (p.Met122Thr) | |
| X | g.120626802A>T | CA414209113 | C1GALT1C1 | c.365T>A (p.Met122Lys) | |
| X | g.120626803T>A | CA414209119 | C1GALT1C1 | c.364A>T (p.Met122Leu) | |
| X | g.120626803T>C | CA414209121 | C1GALT1C1 | c.364A>G (p.Met122Val) | |
| X | g.120626803T>G | CA414209123 | C1GALT1C1 | c.364A>C (p.Met122Leu) | |
| X | g.120626804C>A | CA414209125 | C1GALT1C1 | c.363G>T (p.Met121Ile) | gnomAD v4 |
| X | g.120626804C>G | CA414209127 | C1GALT1C1 | c.363G>C (p.Met121Ile) | |
| X | g.120626804C>T | CA414209128 | C1GALT1C1 | c.363G>A (p.Met121Ile) | |
| X | g.120626805A>C | CA414209134 | C1GALT1C1 | c.362T>G (p.Met121Arg) | |
| X | g.120626805A>G | CA414209131 | C1GALT1C1 | c.362T>C (p.Met121Thr) | gnomAD v4 |
| X | g.120626805A>T | CA414209133 | C1GALT1C1 | c.362T>A (p.Met121Lys) | |
| X | g.120626806T>A | CA414209137 | C1GALT1C1 | c.361A>T (p.Met121Leu) | |
| X | g.120626806T>C | CA414209139 | C1GALT1C1 | c.361A>G (p.Met121Val) | |
| X | g.120626806T>G | CA414209141 | C1GALT1C1 | c.361A>C (p.Met121Leu) | |
| X | g.120626807T>A | CA414209143 | C1GALT1C1 | c.360A>T (p.Leu120Phe) | |
| X | g.120626807T>C | CA518448632 | C1GALT1C1 | c.360A>G (p.Leu120=) | gnomAD v4 |
| X | g.120626807T>G | CA414209144 | C1GALT1C1 | c.360A>C (p.Leu120Phe) | |
| X | g.120626808A>C | CA414209147 | C1GALT1C1 | c.359T>G (p.Leu120Ter) | |
| X | g.120626808A>G | CA414209149 | C1GALT1C1 | c.359T>C (p.Leu120Ser) | |
| X | g.120626808A>T | CA414209148 | C1GALT1C1 | c.359T>A (p.Leu120Ter) | |
| X | g.120626809A>C | CA414209150 | C1GALT1C1 | c.358T>G (p.Leu120Val) | |
| X | g.120626809A>G | CA518448633 | C1GALT1C1 | c.358T>C (p.Leu120=) | |
| X | g.120626809A>T | CA414209151 | C1GALT1C1 | c.358T>A (p.Leu120Ile) | |
| X | g.120626810C>A | CA414209153 | C1GALT1C1 | c.357G>T (p.Trp119Cys) | |
| X | g.120626810C>G | CA414209154 | C1GALT1C1 | c.357G>C (p.Trp119Cys) | |
| X | g.120626810C>T | CA414209156 | C1GALT1C1 | c.357G>A (p.Trp119Ter) | |
| X | g.120626811C>A | CA414209158 | C1GALT1C1 | c.356G>T (p.Trp119Leu) | |
| X | g.120626811C>G | CA414209160 | C1GALT1C1 | c.356G>C (p.Trp119Ser) | |
| X | g.120626811C>T | CA414209162 | C1GALT1C1 | c.356G>A (p.Trp119Ter) | |
| X | g.120626812A>C | CA414209164 | C1GALT1C1 | c.355T>G (p.Trp119Gly) | |
| X | g.120626812A>G | CA414209166 | C1GALT1C1 | c.355T>C (p.Trp119Arg) | |
| X | g.120626812A>T | CA414209168 | C1GALT1C1 | c.355T>A (p.Trp119Arg) | |
| X | g.120626813C>A | CA414209174 | C1GALT1C1 | c.354G>T (p.Met118Ile) | |
| X | g.120626813C>G | CA414209173 | C1GALT1C1 | c.354G>C (p.Met118Ile) | |
| X | g.120626813C>T | CA414209171 | C1GALT1C1 | c.354G>A (p.Met118Ile) | |
| X | g.120626814A>C | CA414209176 | C1GALT1C1 | c.353T>G (p.Met118Arg) | |
| X | g.120626814A>G | CA414209178 | C1GALT1C1 | c.353T>C (p.Met118Thr) | |
| X | g.120626814A>T | CA414209180 | C1GALT1C1 | c.353T>A (p.Met118Lys) | |
| X | g.120626815T>A | CA414209182 | C1GALT1C1 | c.352A>T (p.Met118Leu) | |
| X | g.120626815T>C | CA414209184 | C1GALT1C1 | c.352A>G (p.Met118Val) | dbSNP gnomAD v4 |
| X | g.120626815T>G | CA414209187 | C1GALT1C1 | c.352A>C (p.Met118Leu) | |
| X | g.120626815T= | CA2454930882 | C1GALT1C1 | c.352A= (p.Met118=) | |
| X | g.120626816G>A | CA518448650 | C1GALT1C1 | c.351C>T (p.Asp117=) | |
| X | g.120626816G>C | CA414209189 | C1GALT1C1 | c.351C>G (p.Asp117Glu) | |
| X | g.120626816G= | CA2454930884 | C1GALT1C1 | c.351C= (p.Asp117=) | |
| X | g.120626816G>T | CA10505973 | C1GALT1C1 | c.351C>A (p.Asp117Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626817T>A | CA414209195 | C1GALT1C1 | c.350A>T (p.Asp117Val) | |
| X | g.120626817T>C | CA414209196 | C1GALT1C1 | c.350A>G (p.Asp117Gly) | |
| X | g.120626817T>G | CA414209198 | C1GALT1C1 | c.350A>C (p.Asp117Ala) | |
| X | g.120626818C>A | CA414209204 | C1GALT1C1 | c.349G>T (p.Asp117Tyr) | |
| X | g.120626818C>G | CA414209206 | C1GALT1C1 | c.349G>C (p.Asp117His) | |
| X | g.120626818C>T | CA414209208 | C1GALT1C1 | c.349G>A (p.Asp117Asn) | |
| X | g.120626819A>C | CA414209212 | C1GALT1C1 | c.348T>G (p.Asn116Lys) | |
| X | g.120626819A>G | CA518448662 | C1GALT1C1 | c.348T>C (p.Asn116=) | |
| X | g.120626819A>T | CA414209210 | C1GALT1C1 | c.348T>A (p.Asn116Lys) | |
| X | g.120626820T>A | CA414209214 | C1GALT1C1 | c.347A>T (p.Asn116Ile) | |
| X | g.120626820T>C | CA414209216 | C1GALT1C1 | c.347A>G (p.Asn116Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626820T>G | CA414209218 | C1GALT1C1 | c.347A>C (p.Asn116Thr) | |
| X | g.120626820T= | CA2454930886 | C1GALT1C1 | c.347A= (p.Asn116=) | |
| X | g.120626821T>A | CA414209219 | C1GALT1C1 | c.346A>T (p.Asn116Tyr) | |
| X | g.120626821T>C | CA414209220 | C1GALT1C1 | c.346A>G (p.Asn116Asp) | |
| X | g.120626821T>G | CA414209222 | C1GALT1C1 | c.346A>C (p.Asn116His) | |
| X | g.120626822T>A | CA518448675 | C1GALT1C1 | c.345A>T (p.Thr115=) | |
| X | g.120626822T>C | CA518448676 | C1GALT1C1 | c.345A>G (p.Thr115=) | |
| X | g.120626822T>G | CA518448677 | C1GALT1C1 | c.345A>C (p.Thr115=) | gnomAD v4 |
| X | g.120626823G>A | CA414209227 | C1GALT1C1 | c.344C>T (p.Thr115Ile) | |
| X | g.120626823G>C | CA414209224 | C1GALT1C1 | c.344C>G (p.Thr115Arg) | |
| X | g.120626823G>T | CA414209226 | C1GALT1C1 | c.344C>A (p.Thr115Lys) | |
| X | g.120626824T>A | CA414209230 | C1GALT1C1 | c.343A>T (p.Thr115Ser) | gnomAD v4 |
| X | g.120626824T>C | CA414209232 | C1GALT1C1 | c.343A>G (p.Thr115Ala) | gnomAD v4 |
| X | g.120626824T>G | CA414209233 | C1GALT1C1 | c.343A>C (p.Thr115Pro) | |
| X | g.120626825G>A | CA518448680 | C1GALT1C1 | c.342C>T (p.Asp114=) | |
| X | g.120626825G>C | CA414209236 | C1GALT1C1 | c.342C>G (p.Asp114Glu) | |
| X | g.120626825G>T | CA414209237 | C1GALT1C1 | c.342C>A (p.Asp114Glu) | |
| X | g.120626826T>A | CA414209239 | C1GALT1C1 | c.341A>T (p.Asp114Val) | |
| X | g.120626826T>C | CA414209243 | C1GALT1C1 | c.341A>G (p.Asp114Gly) | |
| X | g.120626826T>G | CA414209241 | C1GALT1C1 | c.341A>C (p.Asp114Ala) | |
| X | g.120626827C>A | CA414209245 | C1GALT1C1 | c.340G>T (p.Asp114Tyr) | |
| X | g.120626827C>G | CA414209247 | C1GALT1C1 | c.340G>C (p.Asp114His) | |
| X | g.120626827C>T | CA414209249 | C1GALT1C1 | c.340G>A (p.Asp114Asn) | |
| X | g.120626828C>A | CA414209251 | C1GALT1C1 | c.339G>T (p.Met113Ile) | |
| X | g.120626828C>G | CA414209253 | C1GALT1C1 | c.339G>C (p.Met113Ile) | |
| X | g.120626828C>T | CA414209255 | C1GALT1C1 | c.339G>A (p.Met113Ile) | |
| X | g.120626829A>C | CA414209261 | C1GALT1C1 | c.338T>G (p.Met113Arg) | |
| X | g.120626829A>G | CA414209257 | C1GALT1C1 | c.338T>C (p.Met113Thr) | ClinVar gnomAD v4 |
| X | g.120626829A>T | CA414209259 | C1GALT1C1 | c.338T>A (p.Met113Lys) | |
| X | g.120626830T>A | CA414209262 | C1GALT1C1 | c.337A>T (p.Met113Leu) | |
| X | g.120626830T>C | CA10505974 | C1GALT1C1 | c.337A>G (p.Met113Val) | dbSNP ExAC gnomAD v2 COSMIC |
| X | g.120626830T>G | CA414209265 | C1GALT1C1 | c.337A>C (p.Met113Leu) | |
| X | g.120626830T= | CA2454930888 | C1GALT1C1 | c.337A= (p.Met113=) | |
| X | g.120626831A>C | CA414209268 | C1GALT1C1 | c.336T>G (p.Asn112Lys) | |
| X | g.120626831A>G | CA518448693 | C1GALT1C1 | c.336T>C (p.Asn112=) | |
| X | g.120626831A>T | CA414209270 | C1GALT1C1 | c.336T>A (p.Asn112Lys) | gnomAD v4 |
| X | g.120626832T>A | CA414209272 | C1GALT1C1 | c.335A>T (p.Asn112Ile) | |
| X | g.120626832T>C | CA414209276 | C1GALT1C1 | c.335A>G (p.Asn112Ser) | |
| X | g.120626832T>G | CA414209274 | C1GALT1C1 | c.335A>C (p.Asn112Thr) | |
| X | g.120626833T>A | CA414209277 | C1GALT1C1 | c.334A>T (p.Asn112Tyr) | |
| X | g.120626833T>C | CA414209279 | C1GALT1C1 | c.334A>G (p.Asn112Asp) | gnomAD v4 |
| X | g.120626833T>G | CA414209281 | C1GALT1C1 | c.334A>C (p.Asn112His) | |
| X | g.120626834A>C | CA414209283 | C1GALT1C1 | c.333T>G (p.Ile111Met) | |
| X | g.120626834A>G | CA518448695 | C1GALT1C1 | c.333T>C (p.Ile111=) | |
| X | g.120626834A>T | CA518448696 | C1GALT1C1 | c.333T>A (p.Ile111=) | gnomAD v4 |
| X | g.120626835A>C | CA414209285 | C1GALT1C1 | c.332T>G (p.Ile111Ser) | |
| X | g.120626835A>G | CA414209287 | C1GALT1C1 | c.332T>C (p.Ile111Thr) | |
| X | g.120626835A>T | CA414209288 | C1GALT1C1 | c.332T>A (p.Ile111Asn) | |
| X | g.120626836T>A | CA414209291 | C1GALT1C1 | c.331A>T (p.Ile111Phe) | |
| X | g.120626836T>C | CA414209293 | C1GALT1C1 | c.331A>G (p.Ile111Val) | |
| X | g.120626836T>G | CA414209295 | C1GALT1C1 | c.331A>C (p.Ile111Leu) | |
| X | g.120626837T>A | CA518448700 | C1GALT1C1 | c.330A>T (p.Ser110=) | |
| X | g.120626837T>C | CA518448701 | C1GALT1C1 | c.330A>G (p.Ser110=) | gnomAD v4 |
| X | g.120626837T>G | CA518448702 | C1GALT1C1 | c.330A>C (p.Ser110=) | |
| X | g.120626837_120626838insA | CA2823267477 | C1GALT1C1 | c.329_330insT (p.Ile111AsnfsTer2) | |
| X | g.120626838G>A | CA414209302 | C1GALT1C1 | c.329C>T (p.Ser110Leu) | gnomAD v4 |
| X | g.120626838G>C | CA414209299 | C1GALT1C1 | c.329C>G (p.Ser110Ter) | |
| X | g.120626838G>T | CA414209298 | C1GALT1C1 | c.329C>A (p.Ser110Ter) | |
| X | g.120626839A>C | CA414209304 | C1GALT1C1 | c.328T>G (p.Ser110Ala) | |
| X | g.120626839A>G | CA414209307 | C1GALT1C1 | c.328T>C (p.Ser110Pro) | gnomAD v4 |
| X | g.120626839A>T | CA414209305 | C1GALT1C1 | c.328T>A (p.Ser110Thr) | |
| X | g.120626840C>A | CA414209310 | C1GALT1C1 | c.327G>T (p.Glu109Asp) | |
| X | g.120626840C>G | CA414209311 | C1GALT1C1 | c.327G>C (p.Glu109Asp) | |
| X | g.120626840C>T | CA518448706 | C1GALT1C1 | c.327G>A (p.Glu109=) | |
| X | g.120626841T>A | CA414209314 | C1GALT1C1 | c.326A>T (p.Glu109Val) | |
| X | g.120626841T>C | CA414209319 | C1GALT1C1 | c.326A>G (p.Glu109Gly) | |
| X | g.120626841T>G | CA414209318 | C1GALT1C1 | c.326A>C (p.Glu109Ala) | |
| X | g.120626842C>A | CA414209321 | C1GALT1C1 | c.325G>T (p.Glu109Ter) | |
| X | g.120626842C>G | CA414209325 | C1GALT1C1 | c.325G>C (p.Glu109Gln) | |
| X | g.120626842C>T | CA414209323 | C1GALT1C1 | c.325G>A (p.Glu109Lys) | |
| X | g.120626843A>C | CA414209327 | C1GALT1C1 | c.324T>G (p.Phe108Leu) | |
| X | g.120626843A>G | CA518448708 | C1GALT1C1 | c.324T>C (p.Phe108=) | |
| X | g.120626843A>T | CA414209329 | C1GALT1C1 | c.324T>A (p.Phe108Leu) | |
| X | g.120626844A>C | CA414209332 | C1GALT1C1 | c.323T>G (p.Phe108Cys) | |
| X | g.120626844A>G | CA414209333 | C1GALT1C1 | c.323T>C (p.Phe108Ser) | |
| X | g.120626844A>T | CA414209334 | C1GALT1C1 | c.323T>A (p.Phe108Tyr) | |
| X | g.120626845A>C | CA414209336 | C1GALT1C1 | c.322T>G (p.Phe108Val) | |
| X | g.120626845A>G | CA414209338 | C1GALT1C1 | c.322T>C (p.Phe108Leu) | |
| X | g.120626845A>T | CA414209340 | C1GALT1C1 | c.322T>A (p.Phe108Ile) | |
| X | g.120626846C>A | CA518448711 | C1GALT1C1 | c.321G>T (p.Val107=) | |
| X | g.120626846C>G | CA518448710 | C1GALT1C1 | c.321G>C (p.Val107=) | |
| X | g.120626846C>T | CA518448709 | C1GALT1C1 | c.321G>A (p.Val107=) | |
| X | g.120626847A>C | CA414209341 | C1GALT1C1 | c.320T>G (p.Val107Gly) | |
| X | g.120626847A>G | CA414209343 | C1GALT1C1 | c.320T>C (p.Val107Ala) | |
| X | g.120626847A>T | CA414209345 | C1GALT1C1 | c.320T>A (p.Val107Glu) | |
| X | g.120626848C>A | CA414209347 | C1GALT1C1 | c.319G>T (p.Val107Leu) | |
| X | g.120626848C>G | CA414209352 | C1GALT1C1 | c.319G>C (p.Val107Leu) | |
| X | g.120626848C>T | CA414209349 | C1GALT1C1 | c.319G>A (p.Val107Met) |