| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120626713C>A | CA414208665 | C1GALT1C1 | c.454G>T (p.Glu152Ter) | |
| X | g.120626713C= | CA2454930830 | C1GALT1C1 | c.454G= (p.Glu152=) | |
| X | g.120626713C>G | CA414208667 | C1GALT1C1 | c.454G>C (p.Glu152Gln) | |
| X | g.120626713C>T | CA121175 | C1GALT1C1 | c.454G>A (p.Glu152Lys) | ClinVar dbSNP |
| X | g.120626714A>C | CA414208670 | C1GALT1C1 | c.453T>G (p.Ile151Met) | |
| X | g.120626714A>G | CA518448360 | C1GALT1C1 | c.453T>C (p.Ile151=) | |
| X | g.120626714A>T | CA518448359 | C1GALT1C1 | c.453T>A (p.Ile151=) | |
| X | g.120626715A>C | CA414208672 | C1GALT1C1 | c.452T>G (p.Ile151Ser) | |
| X | g.120626715A>G | CA414208674 | C1GALT1C1 | c.452T>C (p.Ile151Thr) | |
| X | g.120626715A>T | CA414208676 | C1GALT1C1 | c.452T>A (p.Ile151Asn) | |
| X | g.120626716T>A | CA414208678 | C1GALT1C1 | c.451A>T (p.Ile151Phe) | |
| X | g.120626716T>C | CA414208680 | C1GALT1C1 | c.451A>G (p.Ile151Val) | |
| X | g.120626716T>G | CA414208682 | C1GALT1C1 | c.451A>C (p.Ile151Leu) | |
| X | g.120626717G>A | CA518448367 | C1GALT1C1 | c.450C>T (p.Ile150=) | gnomAD v4 |
| X | g.120626717G>C | CA414208684 | C1GALT1C1 | c.450C>G (p.Ile150Met) | gnomAD v4 |
| X | g.120626717G>T | CA518448368 | C1GALT1C1 | c.450C>A (p.Ile150=) | |
| X | g.120626718A>C | CA414208686 | C1GALT1C1 | c.449T>G (p.Ile150Ser) | |
| X | g.120626718A>G | CA414208688 | C1GALT1C1 | c.449T>C (p.Ile150Thr) | |
| X | g.120626718A>T | CA414208690 | C1GALT1C1 | c.449T>A (p.Ile150Asn) | |
| X | g.120626719T>A | CA414208696 | C1GALT1C1 | c.448A>T (p.Ile150Phe) | |
| X | g.120626719T>C | CA10505962 | C1GALT1C1 | c.448A>G (p.Ile150Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626719T>G | CA414208692 | C1GALT1C1 | c.448A>C (p.Ile150Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626719T= | CA2454930835 | C1GALT1C1 | c.448A= (p.Ile150=) | |
| X | g.120626720A>C | CA518448373 | C1GALT1C1 | c.447T>G (p.Ala149=) | |
| X | g.120626720A>G | CA518448375 | C1GALT1C1 | c.447T>C (p.Ala149=) | |
| X | g.120626720A>T | CA518448376 | C1GALT1C1 | c.447T>A (p.Ala149=) | |
| X | g.120626721G>A | CA10505963 | C1GALT1C1 | c.446C>T (p.Ala149Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626721G>C | CA414208701 | C1GALT1C1 | c.446C>G (p.Ala149Gly) | |
| X | g.120626721G= | CA2454930838 | C1GALT1C1 | c.446C= (p.Ala149=) | |
| X | g.120626721G>T | CA414208703 | C1GALT1C1 | c.446C>A (p.Ala149Asp) | |
| X | g.120626722C>A | CA414208706 | C1GALT1C1 | c.445G>T (p.Ala149Ser) | dbSNP |
| X | g.120626722C= | CA2454930839 | C1GALT1C1 | c.445G= (p.Ala149=) | |
| X | g.120626722C>G | CA414208708 | C1GALT1C1 | c.445G>C (p.Ala149Pro) | |
| X | g.120626722C>T | CA414208711 | C1GALT1C1 | c.445G>A (p.Ala149Thr) | |
| X | g.120626723A>C | CA414208714 | C1GALT1C1 | c.444T>G (p.Phe148Leu) | |
| X | g.120626723A>G | CA518448381 | C1GALT1C1 | c.444T>C (p.Phe148=) | |
| X | g.120626723A>T | CA414208716 | C1GALT1C1 | c.444T>A (p.Phe148Leu) | |
| X | g.120626724A>C | CA414208718 | C1GALT1C1 | c.443T>G (p.Phe148Cys) | |
| X | g.120626724A>G | CA414208720 | C1GALT1C1 | c.443T>C (p.Phe148Ser) | |
| X | g.120626724A>T | CA414208722 | C1GALT1C1 | c.443T>A (p.Phe148Tyr) | |
| X | g.120626725A>C | CA414208728 | C1GALT1C1 | c.442T>G (p.Phe148Val) | |
| X | g.120626725A>G | CA414208726 | C1GALT1C1 | c.442T>C (p.Phe148Leu) | |
| X | g.120626725A>T | CA414208724 | C1GALT1C1 | c.442T>A (p.Phe148Ile) | |
| X | g.120626726C>A | CA518448385 | C1GALT1C1 | c.441G>T (p.Thr147=) | |
| X | g.120626726C= | CA2454930841 | C1GALT1C1 | c.441G= (p.Thr147=) | |
| X | g.120626726C>G | CA518448386 | C1GALT1C1 | c.441G>C (p.Thr147=) | |
| X | g.120626726C>T | CA10505964 | C1GALT1C1 | c.441G>A (p.Thr147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626727G>A | CA10505965 | C1GALT1C1 | c.440C>T (p.Thr147Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626727G>C | CA414208732 | C1GALT1C1 | c.440C>G (p.Thr147Arg) | |
| X | g.120626727G= | CA2454930842 | C1GALT1C1 | c.440C= (p.Thr147=) | |
| X | g.120626727G>T | CA414208734 | C1GALT1C1 | c.440C>A (p.Thr147Lys) | COSMIC |
| X | g.120626728T>A | CA414208736 | C1GALT1C1 | c.439A>T (p.Thr147Ser) | |
| X | g.120626728T>C | CA414208738 | C1GALT1C1 | c.439A>G (p.Thr147Ala) | |
| X | g.120626728T>G | CA414208740 | C1GALT1C1 | c.439A>C (p.Thr147Pro) | |
| X | g.120626729A>C | CA518448390 | C1GALT1C1 | c.438T>G (p.Thr146=) | |
| X | g.120626729A>G | CA518448391 | C1GALT1C1 | c.438T>C (p.Thr146=) | |
| X | g.120626729A>T | CA518448392 | C1GALT1C1 | c.438T>A (p.Thr146=) | |
| X | g.120626730G>A | CA414208743 | C1GALT1C1 | c.437C>T (p.Thr146Ile) | |
| X | g.120626730G>C | CA414208745 | C1GALT1C1 | c.437C>G (p.Thr146Ser) | |
| X | g.120626730G>T | CA414208747 | C1GALT1C1 | c.437C>A (p.Thr146Asn) | |
| X | g.120626731T>A | CA414208750 | C1GALT1C1 | c.436A>T (p.Thr146Ser) | |
| X | g.120626731T>C | CA414208752 | C1GALT1C1 | c.436A>G (p.Thr146Ala) | dbSNP gnomAD v2 |
| X | g.120626731T>G | CA414208754 | C1GALT1C1 | c.436A>C (p.Thr146Pro) | |
| X | g.120626731T= | CA2454930844 | C1GALT1C1 | c.436A= (p.Thr146=) | |
| X | g.120626732G>A | CA518448396 | C1GALT1C1 | c.435C>T (p.Pro145=) | |
| X | g.120626732G>C | CA518448398 | C1GALT1C1 | c.435C>G (p.Pro145=) | |
| X | g.120626732G>T | CA518448399 | C1GALT1C1 | c.435C>A (p.Pro145=) | |
| X | g.120626733G>A | CA414208760 | C1GALT1C1 | c.434C>T (p.Pro145Leu) | |
| X | g.120626733G>C | CA414208756 | C1GALT1C1 | c.434C>G (p.Pro145Arg) | |
| X | g.120626733G>T | CA414208758 | C1GALT1C1 | c.434C>A (p.Pro145His) | |
| X | g.120626734G>A | CA414208762 | C1GALT1C1 | c.433C>T (p.Pro145Ser) | |
| X | g.120626734G>C | CA414208763 | C1GALT1C1 | c.433C>G (p.Pro145Ala) | gnomAD v4 |
| X | g.120626734G>T | CA414208764 | C1GALT1C1 | c.433C>A (p.Pro145Thr) | |
| X | g.120626735G>A | CA518448404 | C1GALT1C1 | c.432C>T (p.Arg144=) | |
| X | g.120626735G>C | CA518448405 | C1GALT1C1 | c.432C>G (p.Arg144=) | |
| X | g.120626735G= | CA2454930845 | C1GALT1C1 | c.432C= (p.Arg144=) | |
| X | g.120626735G>T | CA518448406 | C1GALT1C1 | c.432C>A (p.Arg144=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626736C>A | CA10505967 | C1GALT1C1 | c.431G>T (p.Arg144Leu) | dbSNP ExAC gnomAD v4 |
| X | g.120626736C= | CA2454930847 | C1GALT1C1 | c.431G= (p.Arg144=) | |
| X | g.120626736C>G | CA414208767 | C1GALT1C1 | c.431G>C (p.Arg144Pro) | |
| X | g.120626736C>T | CA10505966 | C1GALT1C1 | c.431G>A (p.Arg144His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626737G>A | CA10505968 | C1GALT1C1 | c.430C>T (p.Arg144Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626737G>C | CA414208771 | C1GALT1C1 | c.430C>G (p.Arg144Gly) | |
| X | g.120626737G= | CA2454930849 | C1GALT1C1 | c.430C= (p.Arg144=) | |
| X | g.120626737G>T | CA414208773 | C1GALT1C1 | c.430C>A (p.Arg144Ser) | |
| X | g.120626738T>A | CA518448416 | C1GALT1C1 | c.429A>T (p.Ala143=) | |
| X | g.120626738T>C | CA518448413 | C1GALT1C1 | c.429A>G (p.Ala143=) | dbSNP gnomAD v4 COSMIC |
| X | g.120626738T>G | CA518448415 | C1GALT1C1 | c.429A>C (p.Ala143=) | |
| X | g.120626738T= | CA2454930851 | C1GALT1C1 | c.429A= (p.Ala143=) | |
| X | g.120626739G>A | CA10505969 | C1GALT1C1 | c.428C>T (p.Ala143Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626739G>C | CA414208776 | C1GALT1C1 | c.428C>G (p.Ala143Gly) | |
| X | g.120626739G= | CA2454930854 | C1GALT1C1 | c.428C= (p.Ala143=) | |
| X | g.120626739G>T | CA414208779 | C1GALT1C1 | c.428C>A (p.Ala143Glu) | |
| X | g.120626740C>A | CA414208783 | C1GALT1C1 | c.427G>T (p.Ala143Ser) | gnomAD v4 |
| X | g.120626740C>G | CA414208785 | C1GALT1C1 | c.427G>C (p.Ala143Pro) | |
| X | g.120626740C>T | CA414208781 | C1GALT1C1 | c.427G>A (p.Ala143Thr) | |
| X | g.120626741A>C | CA518448420 | C1GALT1C1 | c.426T>G (p.Leu142=) | |
| X | g.120626741A>G | CA518448421 | C1GALT1C1 | c.426T>C (p.Leu142=) | |
| X | g.120626741A>T | CA518448422 | C1GALT1C1 | c.426T>A (p.Leu142=) | |
| X | g.120626742A>C | CA414208789 | C1GALT1C1 | c.425T>G (p.Leu142Arg) | |
| X | g.120626742A>G | CA414208787 | C1GALT1C1 | c.425T>C (p.Leu142Pro) | |
| X | g.120626742A>T | CA414208790 | C1GALT1C1 | c.425T>A (p.Leu142His) | |
| X | g.120626743G>A | CA414208793 | C1GALT1C1 | c.424C>T (p.Leu142Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626743G>C | CA414208795 | C1GALT1C1 | c.424C>G (p.Leu142Val) | |
| X | g.120626743G= | CA2454930857 | C1GALT1C1 | c.424C= (p.Leu142=) | |
| X | g.120626743G>T | CA414208796 | C1GALT1C1 | c.424C>A (p.Leu142Ile) | |
| X | g.120626744G>A | CA518448427 | C1GALT1C1 | c.423C>T (p.Phe141=) | |
| X | g.120626744G>C | CA414208803 | C1GALT1C1 | c.423C>G (p.Phe141Leu) | |
| X | g.120626744G>T | CA414208807 | C1GALT1C1 | c.423C>A (p.Phe141Leu) | dbSNP |
| X | g.120626745A>C | CA414208809 | C1GALT1C1 | c.422T>G (p.Phe141Cys) | |
| X | g.120626745A>G | CA414208811 | C1GALT1C1 | c.422T>C (p.Phe141Ser) | |
| X | g.120626745A>T | CA414208813 | C1GALT1C1 | c.422T>A (p.Phe141Tyr) | |
| X | g.120626746A>C | CA414208816 | C1GALT1C1 | c.421T>G (p.Phe141Val) | |
| X | g.120626746A>G | CA414208817 | C1GALT1C1 | c.421T>C (p.Phe141Leu) | |
| X | g.120626746A>T | CA414208819 | C1GALT1C1 | c.421T>A (p.Phe141Ile) | |
| X | g.120626747G>A | CA518448433 | C1GALT1C1 | c.420C>T (p.Phe140=) | |
| X | g.120626747G>C | CA414208821 | C1GALT1C1 | c.420C>G (p.Phe140Leu) | |
| X | g.120626747G= | CA2454930859 | C1GALT1C1 | c.420C= (p.Phe140=) | |
| X | g.120626747G>T | CA414208823 | C1GALT1C1 | c.420C>A (p.Phe140Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 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) |