| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| X | g.120626849T>A | CA414209354 | C1GALT1C1 | c.318A>T (p.Lys106Asn) | |
| X | g.120626849T>C | CA518448712 | C1GALT1C1 | c.318A>G (p.Lys106=) | |
| X | g.120626849T>G | CA414209356 | C1GALT1C1 | c.318A>C (p.Lys106Asn) | |
| X | g.120626850T>A | CA414209358 | C1GALT1C1 | c.317A>T (p.Lys106Ile) | |
| X | g.120626850T>C | CA414209360 | C1GALT1C1 | c.317A>G (p.Lys106Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626850T>G | CA414209362 | C1GALT1C1 | c.317A>C (p.Lys106Thr) | |
| X | g.120626850T= | CA2454930889 | C1GALT1C1 | c.317A= (p.Lys106=) | |
| X | g.120626851T>A | CA414209364 | C1GALT1C1 | c.316A>T (p.Lys106Ter) | |
| X | g.120626851T>C | CA414209366 | C1GALT1C1 | c.316A>G (p.Lys106Glu) | gnomAD v4 |
| X | g.120626851T>G | CA414209368 | C1GALT1C1 | c.316A>C (p.Lys106Gln) | |
| X | g.120626852A>C | CA518448713 | C1GALT1C1 | c.315T>G (p.Val105=) | |
| X | g.120626852A>G | CA518448715 | C1GALT1C1 | c.315T>C (p.Val105=) | |
| X | g.120626852A>T | CA518448714 | C1GALT1C1 | c.315T>A (p.Val105=) | |
| X | g.120626853A>C | CA414209371 | C1GALT1C1 | c.314T>G (p.Val105Gly) | |
| X | g.120626853A>G | CA414209372 | C1GALT1C1 | c.314T>C (p.Val105Ala) | |
| X | g.120626853A>T | CA414209369 | C1GALT1C1 | c.314T>A (p.Val105Asp) | |
| X | g.120626854C>A | CA414209379 | C1GALT1C1 | c.313G>T (p.Val105Phe) | |
| X | g.120626854C>G | CA414209381 | C1GALT1C1 | c.313G>C (p.Val105Leu) | |
| X | g.120626854C>T | CA414209383 | C1GALT1C1 | c.313G>A (p.Val105Ile) | |
| X | g.120626855A= | CA2454930891 | C1GALT1C1 | c.312T= (p.Asn104=) | |
| X | g.120626855A>C | CA414209385 | C1GALT1C1 | c.312T>G (p.Asn104Lys) | |
| X | g.120626855A>G | CA334145010 | C1GALT1C1 | c.312T>C (p.Asn104=) | dbSNP gnomAD v4 |
| X | g.120626855A>T | CA414209387 | C1GALT1C1 | c.312T>A (p.Asn104Lys) | |
| X | g.120626856T>A | CA414209393 | C1GALT1C1 | c.311A>T (p.Asn104Ile) | |
| X | g.120626856T>C | CA414209390 | C1GALT1C1 | c.311A>G (p.Asn104Ser) | |
| X | g.120626856T>G | CA414209391 | C1GALT1C1 | c.311A>C (p.Asn104Thr) | |
| X | g.120626857T>A | CA414209395 | C1GALT1C1 | c.310A>T (p.Asn104Tyr) | |
| X | g.120626857T>C | CA414209397 | C1GALT1C1 | c.310A>G (p.Asn104Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626857T>G | CA414209399 | C1GALT1C1 | c.310A>C (p.Asn104His) | |
| X | g.120626857T= | CA2454930893 | C1GALT1C1 | c.310A= (p.Asn104=) | |
| X | g.120626858T>A | CA414209401 | C1GALT1C1 | c.309A>T (p.Glu103Asp) | |
| X | g.120626858T>C | CA518448716 | C1GALT1C1 | c.309A>G (p.Glu103=) | |
| X | g.120626858T>G | CA414209403 | C1GALT1C1 | c.309A>C (p.Glu103Asp) | |
| X | g.120626859T>A | CA414209405 | C1GALT1C1 | c.308A>T (p.Glu103Val) | |
| X | g.120626859T>C | CA414209409 | C1GALT1C1 | c.308A>G (p.Glu103Gly) | |
| X | g.120626859T>G | CA414209407 | C1GALT1C1 | c.308A>C (p.Glu103Ala) | |
| X | g.120626860C>A | CA414209411 | C1GALT1C1 | c.307G>T (p.Glu103Ter) | |
| X | g.120626860C>G | CA414209412 | C1GALT1C1 | c.307G>C (p.Glu103Gln) | |
| X | g.120626860C>T | CA414209414 | C1GALT1C1 | c.307G>A (p.Glu103Lys) | |
| X | g.120626861A>C | CA518448718 | C1GALT1C1 | c.306T>G (p.Ser102=) | |
| X | g.120626861A>G | CA518448719 | C1GALT1C1 | c.306T>C (p.Ser102=) | dbSNP |
| X | g.120626861A>T | CA518448717 | C1GALT1C1 | c.306T>A (p.Ser102=) | gnomAD v4 |
| X | g.120626862G>A | CA414209416 | C1GALT1C1 | c.305C>T (p.Ser102Phe) | COSMIC |
| X | g.120626862G>C | CA414209418 | C1GALT1C1 | c.305C>G (p.Ser102Cys) | |
| X | g.120626862G>T | CA414209420 | C1GALT1C1 | c.305C>A (p.Ser102Tyr) | |
| X | g.120626863A>C | CA414209422 | C1GALT1C1 | c.304T>G (p.Ser102Ala) | |
| X | g.120626863A>G | CA414209424 | C1GALT1C1 | c.304T>C (p.Ser102Pro) | |
| X | g.120626863A>T | CA414209426 | C1GALT1C1 | c.304T>A (p.Ser102Thr) | |
| X | g.120626864A>C | CA414209429 | C1GALT1C1 | c.303T>G (p.Ser101Arg) | |
| X | g.120626864A>G | CA518448720 | C1GALT1C1 | c.303T>C (p.Ser101=) | |
| X | g.120626864A>T | CA414209431 | C1GALT1C1 | c.303T>A (p.Ser101Arg) | |
| X | g.120626865C>A | CA414209435 | C1GALT1C1 | c.302G>T (p.Ser101Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626865C= | CA2454930896 | C1GALT1C1 | c.302G= (p.Ser101=) | |
| X | g.120626865C>G | CA414209437 | C1GALT1C1 | c.302G>C (p.Ser101Thr) | |
| X | g.120626865C>T | CA10505975 | C1GALT1C1 | c.302G>A (p.Ser101Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626866T>A | CA414209442 | C1GALT1C1 | c.301A>T (p.Ser101Cys) | |
| X | g.120626866T>C | CA414209438 | C1GALT1C1 | c.301A>G (p.Ser101Gly) | dbSNP |
| X | g.120626866T>G | CA414209440 | C1GALT1C1 | c.301A>C (p.Ser101Arg) | |
| X | g.120626866T= | CA2454930898 | C1GALT1C1 | c.301A= (p.Ser101=) | |
| X | g.120626867G>A | CA518448721 | C1GALT1C1 | c.300C>T (p.Phe100=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.120626867G>C | CA414209444 | C1GALT1C1 | c.300C>G (p.Phe100Leu) | |
| X | g.120626867G= | CA2454930900 | C1GALT1C1 | c.300C= (p.Phe100=) | |
| X | g.120626867G>T | CA414209446 | C1GALT1C1 | c.300C>A (p.Phe100Leu) | |
| X | g.120626868A= | CA2454930903 | C1GALT1C1 | c.299T= (p.Phe100=) | |
| X | g.120626868A>C | CA414209448 | C1GALT1C1 | c.299T>G (p.Phe100Cys) | |
| X | g.120626868A>G | CA414209450 | C1GALT1C1 | c.299T>C (p.Phe100Ser) | |
| X | g.120626868A>T | CA10505976 | C1GALT1C1 | c.299T>A (p.Phe100Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626869A>C | CA414209453 | C1GALT1C1 | c.298T>G (p.Phe100Val) | |
| X | g.120626869A>G | CA414209454 | C1GALT1C1 | c.298T>C (p.Phe100Leu) | |
| X | g.120626869A>T | CA414209456 | C1GALT1C1 | c.298T>A (p.Phe100Ile) | |
| X | g.120626870G>A | CA518448722 | C1GALT1C1 | c.297C>T (p.Phe99=) | |
| X | g.120626870G>C | CA414209458 | C1GALT1C1 | c.297C>G (p.Phe99Leu) | |
| X | g.120626870G>T | CA414209460 | C1GALT1C1 | c.297C>A (p.Phe99Leu) | |
| X | g.120626871A>C | CA414209466 | C1GALT1C1 | c.296T>G (p.Phe99Cys) | |
| X | g.120626871A>G | CA414209462 | C1GALT1C1 | c.296T>C (p.Phe99Ser) | |
| X | g.120626871A>T | CA414209463 | C1GALT1C1 | c.296T>A (p.Phe99Tyr) | |
| X | g.120626872A>C | CA414209469 | C1GALT1C1 | c.295T>G (p.Phe99Val) | |
| X | g.120626872A>G | CA414209471 | C1GALT1C1 | c.295T>C (p.Phe99Leu) | |
| X | g.120626872A>T | CA414209473 | C1GALT1C1 | c.295T>A (p.Phe99Ile) | |
| X | g.120626873C>A | CA414209475 | C1GALT1C1 | c.294G>T (p.Glu98Asp) | |
| X | g.120626873C>G | CA414209477 | C1GALT1C1 | c.294G>C (p.Glu98Asp) | |
| X | g.120626873C>T | CA518448723 | C1GALT1C1 | c.294G>A (p.Glu98=) | |
| X | g.120626874T>A | CA414209479 | C1GALT1C1 | c.293A>T (p.Glu98Val) | |
| X | g.120626874T>C | CA414209481 | C1GALT1C1 | c.293A>G (p.Glu98Gly) | |
| X | g.120626874T>G | CA414209483 | C1GALT1C1 | c.293A>C (p.Glu98Ala) |