| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120626514G>A | CA414207740 | C1GALT1C1 | c.653C>T (p.Ser218Phe) | |
| X | g.120626514G>C | CA414207742 | C1GALT1C1 | c.653C>G (p.Ser218Cys) | |
| X | g.120626514G>T | CA414207743 | C1GALT1C1 | c.653C>A (p.Ser218Tyr) | |
| X | g.120626515A>C | CA414207746 | C1GALT1C1 | c.652T>G (p.Ser218Ala) | gnomAD v4 |
| X | g.120626515A>G | CA414207748 | C1GALT1C1 | c.652T>C (p.Ser218Pro) | gnomAD v4 |
| X | g.120626515A>T | CA414207749 | C1GALT1C1 | c.652T>A (p.Ser218Thr) | |
| X | g.120626516T>A | CA518448493 | C1GALT1C1 | c.651A>T (p.Ile217=) | |
| X | g.120626516T>C | CA414207752 | C1GALT1C1 | c.651A>G (p.Ile217Met) | |
| X | g.120626516T>G | CA518448494 | C1GALT1C1 | c.651A>C (p.Ile217=) | |
| X | g.120626517A= | CA2454930970 | C1GALT1C1 | c.650T= (p.Ile217=) | |
| X | g.120626517A>C | CA414207754 | C1GALT1C1 | c.650T>G (p.Ile217Arg) | |
| X | g.120626517A>G | CA414207756 | C1GALT1C1 | c.650T>C (p.Ile217Thr) | |
| X | g.120626517A>T | CA334144915 | C1GALT1C1 | c.650T>A (p.Ile217Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626518T>A | CA414207760 | C1GALT1C1 | c.649A>T (p.Ile217Leu) | |
| X | g.120626518T>C | CA414207761 | C1GALT1C1 | c.649A>G (p.Ile217Val) | gnomAD v4 |
| X | g.120626518T>G | CA414207759 | C1GALT1C1 | c.649A>C (p.Ile217Leu) | |
| X | g.120626519C>A | CA414207762 | C1GALT1C1 | c.648G>T (p.Lys216Asn) | COSMIC |
| X | g.120626519C>G | CA414207763 | C1GALT1C1 | c.648G>C (p.Lys216Asn) | |
| X | g.120626519C>T | CA518448498 | C1GALT1C1 | c.648G>A (p.Lys216=) | |
| X | g.120626520T>A | CA414207765 | C1GALT1C1 | c.647A>T (p.Lys216Met) | |
| X | g.120626520T>C | CA414207767 | C1GALT1C1 | c.647A>G (p.Lys216Arg) | |
| X | g.120626520T>G | CA414207769 | C1GALT1C1 | c.647A>C (p.Lys216Thr) | dbSNP gnomAD v4 |
| X | g.120626520T= | CA2454930983 | C1GALT1C1 | c.647A= (p.Lys216=) | |
| X | g.120626521T>A | CA414207774 | C1GALT1C1 | c.646A>T (p.Lys216Ter) | |
| X | g.120626521T>C | CA414207771 | C1GALT1C1 | c.646A>G (p.Lys216Glu) | |
| X | g.120626521T>G | CA414207773 | C1GALT1C1 | c.646A>C (p.Lys216Gln) | |
| X | g.120626522C>A | CA414207777 | C1GALT1C1 | c.645G>T (p.Trp215Cys) | |
| X | g.120626522C>G | CA414207779 | C1GALT1C1 | c.645G>C (p.Trp215Cys) | |
| X | g.120626522C>T | CA414207780 | C1GALT1C1 | c.645G>A (p.Trp215Ter) | |
| X | g.120626523C>A | CA414207781 | C1GALT1C1 | c.644G>T (p.Trp215Leu) | |
| X | g.120626523C>G | CA414207782 | C1GALT1C1 | c.644G>C (p.Trp215Ser) | |
| X | g.120626523C>T | CA414207784 | C1GALT1C1 | c.644G>A (p.Trp215Ter) | |
| X | g.120626524A>C | CA414207787 | C1GALT1C1 | c.643T>G (p.Trp215Gly) | |
| X | g.120626524A>G | CA414207789 | C1GALT1C1 | c.643T>C (p.Trp215Arg) | |
| X | g.120626524A>T | CA414207786 | C1GALT1C1 | c.643T>A (p.Trp215Arg) | |
| X | g.120626525A>C | CA414207791 | C1GALT1C1 | c.642T>G (p.Ile214Met) | |
| X | g.120626525A>G | CA518448504 | C1GALT1C1 | c.642T>C (p.Ile214=) | |
| X | g.120626525A>T | CA518448506 | C1GALT1C1 | c.642T>A (p.Ile214=) | |
| X | g.120626526A>C | CA414207795 | C1GALT1C1 | c.641T>G (p.Ile214Ser) | |
| X | g.120626526A>G | CA414207799 | C1GALT1C1 | c.641T>C (p.Ile214Thr) | |
| X | g.120626526A>T | CA414207797 | C1GALT1C1 | c.641T>A (p.Ile214Asn) | |
| X | g.120626527T>A | CA414207801 | C1GALT1C1 | c.640A>T (p.Ile214Phe) | |
| X | g.120626527T>C | CA414207805 | C1GALT1C1 | c.640A>G (p.Ile214Val) | gnomAD v4 |
| X | g.120626527T>G | CA414207803 | C1GALT1C1 | c.640A>C (p.Ile214Leu) | |
| X | g.120626528C>A | CA414207807 | C1GALT1C1 | c.639G>T (p.Met213Ile) | |
| X | g.120626528C>G | CA414207809 | C1GALT1C1 | c.639G>C (p.Met213Ile) | |
| X | g.120626528C>T | CA414207811 | C1GALT1C1 | c.639G>A (p.Met213Ile) | |
| X | g.120626529A>C | CA414207813 | C1GALT1C1 | c.638T>G (p.Met213Arg) | |
| X | g.120626529A>G | CA414207815 | C1GALT1C1 | c.638T>C (p.Met213Thr) | |
| X | g.120626529A>T | CA414207817 | C1GALT1C1 | c.638T>A (p.Met213Lys) | |
| X | g.120626530T>A | CA414207820 | C1GALT1C1 | c.637A>T (p.Met213Leu) | |
| X | g.120626530T>C | CA414207822 | C1GALT1C1 | c.637A>G (p.Met213Val) | |
| X | g.120626530T>G | CA414207824 | C1GALT1C1 | c.637A>C (p.Met213Leu) | |
| X | g.120626531C>A | CA518448511 | C1GALT1C1 | c.636G>T (p.Gly212=) | |
| X | g.120626531C= | CA2454930985 | C1GALT1C1 | c.636G= (p.Gly212=) | |
| X | g.120626531C>G | CA518448510 | C1GALT1C1 | c.636G>C (p.Gly212=) | |
| X | g.120626531C>T | CA10505945 | C1GALT1C1 | c.636G>A (p.Gly212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.120626532C>A | CA414207831 | C1GALT1C1 | c.635G>T (p.Gly212Val) | |
| X | g.120626532C>G | CA414207829 | C1GALT1C1 | c.635G>C (p.Gly212Ala) | |
| X | g.120626532C>T | CA414207828 | C1GALT1C1 | c.635G>A (p.Gly212Glu) | |
| X | g.120626533C>A | CA414207833 | C1GALT1C1 | c.634G>T (p.Gly212Trp) | COSMIC |
| X | g.120626533C>G | CA414207835 | C1GALT1C1 | c.634G>C (p.Gly212Arg) | |
| X | g.120626533C>T | CA414207837 | C1GALT1C1 | c.634G>A (p.Gly212Arg) | |
| X | g.120626534T>A | CA518448514 | C1GALT1C1 | c.633A>T (p.Gly211=) | |
| X | g.120626534T>C | CA518448515 | C1GALT1C1 | c.633A>G (p.Gly211=) | |
| X | g.120626534T>G | CA518448516 | C1GALT1C1 | c.633A>C (p.Gly211=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626534T= | CA2454930986 | C1GALT1C1 | c.633A= (p.Gly211=) | |
| X | g.120626535C>A | CA414207839 | C1GALT1C1 | c.632G>T (p.Gly211Val) | |
| X | g.120626535C= | CA2454930988 | C1GALT1C1 | c.632G= (p.Gly211=) | |
| X | g.120626535C>G | CA414207841 | C1GALT1C1 | c.632G>C (p.Gly211Ala) | |
| X | g.120626535C>T | CA414207842 | C1GALT1C1 | c.632G>A (p.Gly211Glu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626536C>A | CA414207846 | C1GALT1C1 | c.631G>T (p.Gly211Ter) | |
| X | g.120626536C= | CA2454930989 | C1GALT1C1 | c.631G= (p.Gly211=) | |
| X | g.120626536C>G | CA414207848 | C1GALT1C1 | c.631G>C (p.Gly211Arg) | |
| X | g.120626536C>T | CA414207850 | C1GALT1C1 | c.631G>A (p.Gly211Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626537C>A | CA414207852 | C1GALT1C1 | c.630G>T (p.Gln210His) | gnomAD v4 |
| X | g.120626537C>G | CA414207854 | C1GALT1C1 | c.630G>C (p.Gln210His) | |
| X | g.120626537C>T | CA518448518 | C1GALT1C1 | c.630G>A (p.Gln210=) | |
| X | g.120626538T>A | CA414207859 | C1GALT1C1 | c.629A>T (p.Gln210Leu) | |
| X | g.120626538T>C | CA414207860 | C1GALT1C1 | c.629A>G (p.Gln210Arg) | |
| X | g.120626538T>G | CA414207856 | C1GALT1C1 | c.629A>C (p.Gln210Pro) | |
| X | g.120626539G>A | CA414207865 | C1GALT1C1 | c.628C>T (p.Gln210Ter) | |
| X | g.120626539G>C | CA414207866 | C1GALT1C1 | c.628C>G (p.Gln210Glu) | |
| X | g.120626539G>T | CA414207867 | C1GALT1C1 | c.628C>A (p.Gln210Lys) | |
| X | g.120626540T>A | CA414207868 | C1GALT1C1 | c.627A>T (p.Glu209Asp) | |
| X | g.120626540T>C | CA518448520 | C1GALT1C1 | c.627A>G (p.Glu209=) | |
| X | g.120626540T>G | CA414207870 | C1GALT1C1 | c.627A>C (p.Glu209Asp) | |
| X | g.120626541T>A | CA414207875 | C1GALT1C1 | c.626A>T (p.Glu209Val) | |
| X | g.120626541T>C | CA414207874 | C1GALT1C1 | c.626A>G (p.Glu209Gly) | COSMIC |
| X | g.120626541T>G | CA414207872 | C1GALT1C1 | c.626A>C (p.Glu209Ala) | |
| X | g.120626542C>A | CA414207877 | C1GALT1C1 | c.625G>T (p.Glu209Ter) | |
| X | g.120626542C>G | CA414207879 | C1GALT1C1 | c.625G>C (p.Glu209Gln) | |
| X | g.120626542C>T | CA414207881 | C1GALT1C1 | c.625G>A (p.Glu209Lys) | |
| X | g.120626543A= | CA2454930991 | C1GALT1C1 | c.624T= (p.Pro208=) | |
| X | g.120626543A>C | CA518448521 | C1GALT1C1 | c.624T>G (p.Pro208=) | |
| X | g.120626543A>G | CA518448522 | C1GALT1C1 | c.624T>C (p.Pro208=) | dbSNP |
| X | g.120626543A>T | CA518448523 | C1GALT1C1 | c.624T>A (p.Pro208=) | |
| X | g.120626544G>A | CA414207884 | C1GALT1C1 | c.623C>T (p.Pro208Leu) | |
| X | g.120626544G>C | CA414207886 | C1GALT1C1 | c.623C>G (p.Pro208Arg) | |
| X | g.120626544G>T | CA414207888 | C1GALT1C1 | c.623C>A (p.Pro208His) | |
| X | g.120626545G>A | CA414207892 | C1GALT1C1 | c.622C>T (p.Pro208Ser) | |
| X | g.120626545G>C | CA414207896 | C1GALT1C1 | c.622C>G (p.Pro208Ala) | |
| X | g.120626545G>T | CA414207894 | C1GALT1C1 | c.622C>A (p.Pro208Thr) | |
| X | g.120626546A>C | CA414207898 | C1GALT1C1 | c.621T>G (p.Cys207Trp) | |
| X | g.120626546A>G | CA518448525 | C1GALT1C1 | c.621T>C (p.Cys207=) | |
| X | g.120626546A>T | CA414207900 | C1GALT1C1 | c.621T>A (p.Cys207Ter) | |
| X | g.120626547C>A | CA414207903 | C1GALT1C1 | c.620G>T (p.Cys207Phe) | |
| X | g.120626547C>G | CA414207904 | C1GALT1C1 | c.620G>C (p.Cys207Ser) | |
| X | g.120626547C>T | CA414207907 | C1GALT1C1 | c.620G>A (p.Cys207Tyr) | |
| X | g.120626548A>C | CA414207910 | C1GALT1C1 | c.619T>G (p.Cys207Gly) | |
| X | g.120626548A>G | CA414207911 | C1GALT1C1 | c.619T>C (p.Cys207Arg) | |
| X | g.120626548A>T | CA414207913 | C1GALT1C1 | c.619T>A (p.Cys207Ser) | |
| X | g.120626549C>A | CA414207915 | C1GALT1C1 | c.618G>T (p.Lys206Asn) | |
| X | g.120626549C= | CA2454930993 | C1GALT1C1 | c.618G= (p.Lys206=) | |
| X | g.120626549C>G | CA414207916 | C1GALT1C1 | c.618G>C (p.Lys206Asn) | |
| X | g.120626549C>T | CA10505946 | C1GALT1C1 | c.618G>A (p.Lys206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626550T>A | CA414207924 | C1GALT1C1 | c.617A>T (p.Lys206Met) | |
| X | g.120626550T>C | CA414207922 | C1GALT1C1 | c.617A>G (p.Lys206Arg) | |
| X | g.120626550T>G | CA414207920 | C1GALT1C1 | c.617A>C (p.Lys206Thr) | |
| X | g.120626551T>A | CA414207926 | C1GALT1C1 | c.616A>T (p.Lys206Ter) | |
| X | g.120626551T>C | CA414207930 | C1GALT1C1 | c.616A>G (p.Lys206Glu) | gnomAD v4 |
| X | g.120626551T>G | CA414207928 | C1GALT1C1 | c.616A>C (p.Lys206Gln) | |
| X | g.120626552T>A | CA414207932 | C1GALT1C1 | c.615A>T (p.Glu205Asp) | |
| X | g.120626552T>C | CA518448532 | C1GALT1C1 | c.615A>G (p.Glu205=) | gnomAD v4 |
| X | g.120626552T>G | CA414207934 | C1GALT1C1 | c.615A>C (p.Glu205Asp) | |
| X | g.120626553T>A | CA414207936 | C1GALT1C1 | c.614A>T (p.Glu205Val) | |
| X | g.120626553T>C | CA414207938 | C1GALT1C1 | c.614A>G (p.Glu205Gly) | |
| X | g.120626553T>G | CA414207939 | C1GALT1C1 | c.614A>C (p.Glu205Ala) | |
| X | g.120626554C>A | CA414207940 | C1GALT1C1 | c.613G>T (p.Glu205Ter) | |
| X | g.120626554C>G | CA414207941 | C1GALT1C1 | c.613G>C (p.Glu205Gln) | |
| X | g.120626554C>T | CA414207942 | C1GALT1C1 | c.613G>A (p.Glu205Lys) | |
| X | g.120626555T>A | CA518448538 | C1GALT1C1 | c.612A>T (p.Pro204=) | |
| X | g.120626555T>C | CA518448536 | C1GALT1C1 | c.612A>G (p.Pro204=) | |
| X | g.120626555T>G | CA518448537 | C1GALT1C1 | c.612A>C (p.Pro204=) | |
| X | g.120626556G>A | CA414207943 | C1GALT1C1 | c.611C>T (p.Pro204Leu) | gnomAD v4 |
| X | g.120626556G>C | CA414207944 | C1GALT1C1 | c.611C>G (p.Pro204Arg) | |
| X | g.120626556G>T | CA414207945 | C1GALT1C1 | c.611C>A (p.Pro204Gln) | |
| X | g.120626557G>A | CA414207949 | C1GALT1C1 | c.610C>T (p.Pro204Ser) | |
| X | g.120626557G>C | CA414207947 | C1GALT1C1 | c.610C>G (p.Pro204Ala) | |
| X | g.120626557G>T | CA414207946 | C1GALT1C1 | c.610C>A (p.Pro204Thr) | |
| X | g.120626558G>A | CA518448541 | C1GALT1C1 | c.609C>T (p.Ile203=) | |
| X | g.120626558G>C | CA414207950 | C1GALT1C1 | c.609C>G (p.Ile203Met) | |
| X | g.120626558G>T | CA518448542 | C1GALT1C1 | c.609C>A (p.Ile203=) | |
| X | g.120626559A>C | CA414207952 | C1GALT1C1 | c.608T>G (p.Ile203Ser) | |
| X | g.120626559A>G | CA414207953 | C1GALT1C1 | c.608T>C (p.Ile203Thr) | |
| X | g.120626559A>T | CA414207955 | C1GALT1C1 | c.608T>A (p.Ile203Asn) | |
| X | g.120626560T>A | CA414207958 | C1GALT1C1 | c.607A>T (p.Ile203Phe) | |
| X | g.120626560T>C | CA10505947 | C1GALT1C1 | c.607A>G (p.Ile203Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626560T>G | CA414207964 | C1GALT1C1 | c.607A>C (p.Ile203Leu) | |
| X | g.120626560T= | CA2454930994 | C1GALT1C1 | c.607A= (p.Ile203=) | |
| X | g.120626561A= | CA2454930996 | C1GALT1C1 | c.606T= (p.Asn202=) | |
| X | g.120626561A>C | CA414207966 | C1GALT1C1 | c.606T>G (p.Asn202Lys) | |
| X | g.120626561A>G | CA518448547 | C1GALT1C1 | c.606T>C (p.Asn202=) | gnomAD v4 |
| X | g.120626561A>T | CA10505948 | C1GALT1C1 | c.606T>A (p.Asn202Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626562T>A | CA414207969 | C1GALT1C1 | c.605A>T (p.Asn202Ile) | |
| X | g.120626562T>C | CA10505949 | C1GALT1C1 | c.605A>G (p.Asn202Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626562T>G | CA414207973 | C1GALT1C1 | c.605A>C (p.Asn202Thr) | |
| X | g.120626562T= | CA2454930997 | C1GALT1C1 | c.605A= (p.Asn202=) | |
| X | g.120626563T>A | CA414207978 | C1GALT1C1 | c.604A>T (p.Asn202Tyr) | |
| X | g.120626563T>C | CA414207977 | C1GALT1C1 | c.604A>G (p.Asn202Asp) | |
| X | g.120626563T>G | CA414207975 | C1GALT1C1 | c.604A>C (p.Asn202His) | |
| X | g.120626564G>A | CA518448549 | C1GALT1C1 | c.603C>T (p.Leu201=) | |
| X | g.120626564G>C | CA518448551 | C1GALT1C1 | c.603C>G (p.Leu201=) | |
| X | g.120626564G>T | CA518448552 | C1GALT1C1 | c.603C>A (p.Leu201=) | |
| X | g.120626565A>C | CA414207980 | C1GALT1C1 | c.602T>G (p.Leu201Arg) | |
| X | g.120626565A>G | CA414207982 | C1GALT1C1 | c.602T>C (p.Leu201Pro) | |
| X | g.120626565A>T | CA414207984 | C1GALT1C1 | c.602T>A (p.Leu201His) | |
| X | g.120626566G>A | CA414207985 | C1GALT1C1 | c.601C>T (p.Leu201Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626566G>C | CA414207987 | C1GALT1C1 | c.601C>G (p.Leu201Val) | |
| X | g.120626566G= | CA2454930998 | C1GALT1C1 | c.601C= (p.Leu201=) | |
| X | g.120626566G>T | CA414207989 | C1GALT1C1 | c.601C>A (p.Leu201Ile) | |
| X | g.120626567A>C | CA518448558 | C1GALT1C1 | c.600T>G (p.Leu200=) | |
| X | g.120626567A>G | CA518448559 | C1GALT1C1 | c.600T>C (p.Leu200=) | |
| X | g.120626567A>T | CA518448560 | C1GALT1C1 | c.600T>A (p.Leu200=) | |
| X | g.120626568A>C | CA414207995 | C1GALT1C1 | c.599T>G (p.Leu200Arg) | |
| X | g.120626568A>G | CA414207991 | C1GALT1C1 | c.599T>C (p.Leu200Pro) | |
| X | g.120626568A>T | CA414207993 | C1GALT1C1 | c.599T>A (p.Leu200His) | |
| X | g.120626569G>A | CA414207996 | C1GALT1C1 | c.598C>T (p.Leu200Phe) | |
| X | g.120626569G>C | CA414207998 | C1GALT1C1 | c.598C>G (p.Leu200Val) | |
| X | g.120626569G>T | CA414208000 | C1GALT1C1 | c.598C>A (p.Leu200Ile) | |
| X | g.120626570G>A | CA518448561 | C1GALT1C1 | c.597C>T (p.Ser199=) | |
| X | g.120626570G>C | CA10505950 | C1GALT1C1 | c.597C>G (p.Ser199Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626570G= | CA2454931000 | C1GALT1C1 | c.597C= (p.Ser199=) | |
| X | g.120626570G>T | CA414208003 | C1GALT1C1 | c.597C>A (p.Ser199Arg) | |
| X | g.120626571C>A | CA414208005 | C1GALT1C1 | c.596G>T (p.Ser199Ile) | |
| X | g.120626571C>G | CA414208009 | C1GALT1C1 | c.596G>C (p.Ser199Thr) | |
| X | g.120626571C>T | CA414208007 | C1GALT1C1 | c.596G>A (p.Ser199Asn) | |
| X | g.120626572T>A | CA414208011 | C1GALT1C1 | c.595A>T (p.Ser199Cys) | |
| X | g.120626572T>C | CA414208014 | C1GALT1C1 | c.595A>G (p.Ser199Gly) | gnomAD v4 |
| X | g.120626572T>G | CA414208015 | C1GALT1C1 | c.595A>C (p.Ser199Arg) | |
| X | g.120626573G>A | CA10505951 | C1GALT1C1 | c.594C>T (p.Asn198=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626573G>C | CA334144935 | C1GALT1C1 | c.594C>G (p.Asn198Lys) | dbSNP |
| X | g.120626573G= | CA2454931002 | C1GALT1C1 | c.594C= (p.Asn198=) | |
| X | g.120626573G>T | CA414208019 | C1GALT1C1 | c.594C>A (p.Asn198Lys) | |
| X | g.120626574T>A | CA414208021 | C1GALT1C1 | c.593A>T (p.Asn198Ile) | |
| X | g.120626574T>C | CA414208023 | C1GALT1C1 | c.593A>G (p.Asn198Ser) | COSMIC |
| X | g.120626574T>G | CA414208025 | C1GALT1C1 | c.593A>C (p.Asn198Thr) | |
| X | g.120626575_120626576insTTT | CA1136816999 | C1GALT1C1 | c.593_594insAAA (p.Leu197_Asn198insLys) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626575T>A | CA414208027 | C1GALT1C1 | c.592A>T (p.Asn198Tyr) | |
| X | g.120626575T>C | CA414208029 | C1GALT1C1 | c.592A>G (p.Asn198Asp) | |
| X | g.120626575T>G | CA414208030 | C1GALT1C1 | c.592A>C (p.Asn198His) | |
| X | g.120626576A= | CA2454931004 | C1GALT1C1 | c.591T= (p.Leu197=) | |
| X | g.120626576A>C | CA518448565 | C1GALT1C1 | c.591T>G (p.Leu197=) | |
| X | g.120626576A>G | CA10505952 | C1GALT1C1 | c.591T>C (p.Leu197=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626576A>T | CA518448566 | C1GALT1C1 | c.591T>A (p.Leu197=) | |
| X | g.120626577A= | CA2454931006 | C1GALT1C1 | c.590T= (p.Leu197=) | |
| X | g.120626577A>C | CA414208035 | C1GALT1C1 | c.590T>G (p.Leu197Arg) | |
| X | g.120626577A>G | CA414208033 | C1GALT1C1 | c.590T>C (p.Leu197Pro) | |
| X | g.120626577A>T | CA414208036 | C1GALT1C1 | c.590T>A (p.Leu197His) | dbSNP |
| X | g.120626578G>A | CA414208039 | C1GALT1C1 | c.589C>T (p.Leu197Phe) | |
| X | g.120626578G>C | CA414208041 | C1GALT1C1 | c.589C>G (p.Leu197Val) | |
| X | g.120626578G>T | CA414208043 | C1GALT1C1 | c.589C>A (p.Leu197Ile) | |
| X | g.120626579T>A | CA414208045 | C1GALT1C1 | c.588A>T (p.Arg196Ser) | |
| X | g.120626579T>C | CA518448574 | C1GALT1C1 | c.588A>G (p.Arg196=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626579T>G | CA414208047 | C1GALT1C1 | c.588A>C (p.Arg196Ser) | |
| X | g.120626579T= | CA2454931008 | C1GALT1C1 | c.588A= (p.Arg196=) | |
| X | g.120626580C>A | CA414208049 | C1GALT1C1 | c.587G>T (p.Arg196Ile) | gnomAD v4 |
| X | g.120626580C= | CA2454931009 | C1GALT1C1 | c.587G= (p.Arg196=) | |
| X | g.120626580C>G | CA334144941 | C1GALT1C1 | c.587G>C (p.Arg196Thr) | dbSNP gnomAD v4 |
| X | g.120626580C>T | CA414208052 | C1GALT1C1 | c.587G>A (p.Arg196Lys) | gnomAD v4 |
| X | g.120626581T>A | CA414208054 | C1GALT1C1 | c.586A>T (p.Arg196Ter) | |
| X | g.120626581T>C | CA414208056 | C1GALT1C1 | c.586A>G (p.Arg196Gly) | |
| X | g.120626581T>G | CA518448579 | C1GALT1C1 | c.586A>C (p.Arg196=) | |
| X | g.120626582T>A | CA414208058 | C1GALT1C1 | c.585A>T (p.Lys195Asn) | |
| X | g.120626582T>C | CA518448581 | C1GALT1C1 | c.585A>G (p.Lys195=) | |
| X | g.120626582T>G | CA414208059 | C1GALT1C1 | c.585A>C (p.Lys195Asn) | |
| X | g.120626583T>A | CA414208061 | C1GALT1C1 | c.584A>T (p.Lys195Ile) | |
| X | g.120626583T>C | CA414208063 | C1GALT1C1 | c.584A>G (p.Lys195Arg) | |
| X | g.120626583T>G | CA414208064 | C1GALT1C1 | c.584A>C (p.Lys195Thr) | |
| X | g.120626584T>A | CA414208065 | C1GALT1C1 | c.583A>T (p.Lys195Ter) | |
| X | g.120626584T>C | CA414208069 | C1GALT1C1 | c.583A>G (p.Lys195Glu) | |
| X | g.120626584T>G | CA414208067 | C1GALT1C1 | c.583A>C (p.Lys195Gln) | |
| X | g.120626585C>A | CA414208072 | C1GALT1C1 | c.582G>T (p.Met194Ile) | COSMIC |
| X | g.120626585C>G | CA414208073 | C1GALT1C1 | c.582G>C (p.Met194Ile) | |
| X | g.120626585C>T | CA414208075 | C1GALT1C1 | c.582G>A (p.Met194Ile) | |
| X | g.120626586A= | CA2454931011 | C1GALT1C1 | c.581T= (p.Met194=) | |
| X | g.120626586A>C | CA414208076 | C1GALT1C1 | c.581T>G (p.Met194Arg) | |
| X | g.120626586A>G | CA10505953 | C1GALT1C1 | c.581T>C (p.Met194Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626586A>T | CA414208079 | C1GALT1C1 | c.581T>A (p.Met194Lys) | |
| X | g.120626587T>A | CA414208081 | C1GALT1C1 | c.580A>T (p.Met194Leu) | |
| X | g.120626587T>C | CA414208082 | C1GALT1C1 | c.580A>G (p.Met194Val) | |
| X | g.120626587T>G | CA414208084 | C1GALT1C1 | c.580A>C (p.Met194Leu) | |
| X | g.120626588T>A | CA518448601 | C1GALT1C1 | c.579A>T (p.Ser193=) | |
| X | g.120626588T>C | CA518448602 | C1GALT1C1 | c.579A>G (p.Ser193=) | |
| X | g.120626588T>G | CA518448603 | C1GALT1C1 | c.579A>C (p.Ser193=) | |
| X | g.120626589G>A | CA414208086 | C1GALT1C1 | c.578C>T (p.Ser193Leu) | |
| X | g.120626589G>C | CA414208089 | C1GALT1C1 | c.578C>G (p.Ser193Ter) | |
| X | g.120626589G>T | CA414208090 | C1GALT1C1 | c.578C>A (p.Ser193Ter) | |
| X | g.120626590A= | CA2454930725 | C1GALT1C1 | c.577T= (p.Ser193=) | |
| X | g.120626590A>C | CA414208091 | C1GALT1C1 | c.577T>G (p.Ser193Ala) | |
| X | g.120626590A>G | CA130368 | C1GALT1C1 | c.577T>C (p.Ser193Pro) | ClinVar dbSNP |
| X | g.120626590A>T | CA414208094 | C1GALT1C1 | c.577T>A (p.Ser193Thr) | |
| X | g.120626591T>A | CA414208096 | C1GALT1C1 | c.576A>T (p.Glu192Asp) | |
| X | g.120626591T>C | CA518448609 | C1GALT1C1 | c.576A>G (p.Glu192=) | |
| X | g.120626591T>G | CA414208098 | C1GALT1C1 | c.576A>C (p.Glu192Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626591T= | CA2454930734 | C1GALT1C1 | c.576A= (p.Glu192=) | |
| X | g.120626592T>A | CA414208101 | C1GALT1C1 | c.575A>T (p.Glu192Val) | |
| X | g.120626592T>C | CA414208102 | C1GALT1C1 | c.575A>G (p.Glu192Gly) | |
| X | g.120626592T>G | CA414208104 | C1GALT1C1 | c.575A>C (p.Glu192Ala) | |
| X | g.120626593C>A | CA414208107 | C1GALT1C1 | c.574G>T (p.Glu192Ter) | |
| X | g.120626593C= | CA2454930739 | C1GALT1C1 | c.574G= (p.Glu192=) | |
| X | g.120626593C>G | CA414208109 | C1GALT1C1 | c.574G>C (p.Glu192Gln) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626593C>T | CA414208110 | C1GALT1C1 | c.574G>A (p.Glu192Lys) | |
| X | g.120626594T>A | CA518448618 | C1GALT1C1 | c.573A>T (p.Val191=) | |
| X | g.120626594T>C | CA10505954 | C1GALT1C1 | c.573A>G (p.Val191=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626594T>G | CA518448619 | C1GALT1C1 | c.573A>C (p.Val191=) | dbSNP |
| X | g.120626594T= | CA2454930743 | C1GALT1C1 | c.573A= (p.Val191=) | |
| X | g.120626595A>C | CA414208113 | C1GALT1C1 | c.572T>G (p.Val191Gly) | |
| X | g.120626595A>G | CA414208114 | C1GALT1C1 | c.572T>C (p.Val191Ala) | |
| X | g.120626595A>T | CA414208115 | C1GALT1C1 | c.572T>A (p.Val191Glu) | |
| X | g.120626596C>A | CA414208122 | C1GALT1C1 | c.571G>T (p.Val191Leu) | |
| X | g.120626596C>G | CA414208120 | C1GALT1C1 | c.571G>C (p.Val191Leu) | |
| X | g.120626596C>T | CA414208118 | C1GALT1C1 | c.571G>A (p.Val191Ile) | gnomAD v4 |
| X | g.120626597A>C | CA414208124 | C1GALT1C1 | c.570T>G (p.Ser190Arg) | gnomAD v4 |
| X | g.120626597A>G | CA518448627 | C1GALT1C1 | c.570T>C (p.Ser190=) | |
| X | g.120626597A>T | CA414208125 | C1GALT1C1 | c.570T>A (p.Ser190Arg) | |
| X | g.120626598C>A | CA414208128 | C1GALT1C1 | c.569G>T (p.Ser190Ile) | |
| X | g.120626598C>G | CA414208129 | C1GALT1C1 | c.569G>C (p.Ser190Thr) | |
| X | g.120626598C>T | CA414208133 | C1GALT1C1 | c.569G>A (p.Ser190Asn) | |
| X | g.120626599T>A | CA414208136 | C1GALT1C1 | c.568A>T (p.Ser190Cys) | |
| X | g.120626599T>C | CA414208137 | C1GALT1C1 | c.568A>G (p.Ser190Gly) | |
| X | g.120626599T>G | CA414208139 | C1GALT1C1 | c.568A>C (p.Ser190Arg) | |
| X | g.120626600T>A | CA414208141 | C1GALT1C1 | c.567A>T (p.Leu189Phe) | |
| X | g.120626600T>C | CA518448634 | C1GALT1C1 | c.567A>G (p.Leu189=) | |
| X | g.120626600T>G | CA414208144 | C1GALT1C1 | c.567A>C (p.Leu189Phe) | |
| X | g.120626601A>C | CA414208147 | C1GALT1C1 | c.566T>G (p.Leu189Ter) | |
| X | g.120626601A>G | CA414208149 | C1GALT1C1 | c.566T>C (p.Leu189Ser) | |
| X | g.120626601A>T | CA414208151 | C1GALT1C1 | c.566T>A (p.Leu189Ter) | |
| X | g.120626602A>C | CA414208153 | C1GALT1C1 | c.565T>G (p.Leu189Val) | |
| X | g.120626602A>G | CA518448640 | C1GALT1C1 | c.565T>C (p.Leu189=) | |
| X | g.120626602A>T | CA414208155 | C1GALT1C1 | c.565T>A (p.Leu189Ile) | |
| X | g.120626603G>A | CA518448642 | C1GALT1C1 | c.564C>T (p.Val188=) | |
| X | g.120626603G>C | CA518448643 | C1GALT1C1 | c.564C>G (p.Val188=) | |
| X | g.120626603G>T | CA518448644 | C1GALT1C1 | c.564C>A (p.Val188=) | |
| X | g.120626604A>C | CA414208158 | C1GALT1C1 | c.563T>G (p.Val188Gly) | |
| X | g.120626604A>G | CA414208160 | C1GALT1C1 | c.563T>C (p.Val188Ala) | |
| X | g.120626604A>T | CA414208162 | C1GALT1C1 | c.563T>A (p.Val188Asp) | |
| X | g.120626605C>A | CA414208166 | C1GALT1C1 | c.562G>T (p.Val188Phe) | |
| X | g.120626605C>G | CA414208168 | C1GALT1C1 | c.562G>C (p.Val188Leu) | |
| X | g.120626605C>T | CA414208170 | C1GALT1C1 | c.562G>A (p.Val188Ile) | |
| X | g.120626606A>C | CA414208172 | C1GALT1C1 | c.561T>G (p.Ile187Met) | |
| X | g.120626606A>G | CA518448653 | C1GALT1C1 | c.561T>C (p.Ile187=) | |
| X | g.120626606A>T | CA518448651 | C1GALT1C1 | c.561T>A (p.Ile187=) | |
| X | g.120626607A>C | CA414208174 | C1GALT1C1 | c.560T>G (p.Ile187Ser) | |
| X | g.120626607A>G | CA414208177 | C1GALT1C1 | c.560T>C (p.Ile187Thr) | |
| X | g.120626607A>T | CA414208179 | C1GALT1C1 | c.560T>A (p.Ile187Asn) | |
| X | g.120626608T>A | CA414208180 | C1GALT1C1 | c.559A>T (p.Ile187Phe) | |
| X | g.120626608T>C | CA414208182 | C1GALT1C1 | c.559A>G (p.Ile187Val) | |
| X | g.120626608T>G | CA414208187 | C1GALT1C1 | c.559A>C (p.Ile187Leu) | |
| X | g.120626609T>A | CA518448661 | C1GALT1C1 | c.558A>T (p.Gly186=) | |
| X | g.120626609T>C | CA518448664 | C1GALT1C1 | c.558A>G (p.Gly186=) | |
| X | g.120626609T>G | CA518448665 | C1GALT1C1 | c.558A>C (p.Gly186=) | |
| X | g.120626610C>A | CA414208192 | C1GALT1C1 | c.557G>T (p.Gly186Val) | |
| X | g.120626610C>G | CA414208190 | C1GALT1C1 | c.557G>C (p.Gly186Ala) | |
| X | g.120626610C>T | CA414208189 | C1GALT1C1 | c.557G>A (p.Gly186Glu) | |
| X | g.120626611C>A | CA414208194 | C1GALT1C1 | c.556G>T (p.Gly186Ter) | |
| X | g.120626611C>G | CA414208196 | C1GALT1C1 | c.556G>C (p.Gly186Arg) | |
| X | g.120626611C>T | CA414208197 | C1GALT1C1 | c.556G>A (p.Gly186Arg) | |
| X | g.120626612T>A | CA334144951 | C1GALT1C1 | c.555A>T (p.Gly185=) | dbSNP gnomAD v4 |
| X | g.120626612T>C | CA518448673 | C1GALT1C1 | c.555A>G (p.Gly185=) | |
| X | g.120626612T>G | CA518448674 | C1GALT1C1 | c.555A>C (p.Gly185=) | |
| X | g.120626612T= | CA2454930752 | C1GALT1C1 | c.555A= (p.Gly185=) | |
| X | g.120626613C>A | CA414208200 | C1GALT1C1 | c.554G>T (p.Gly185Val) | |
| X | g.120626613C= | CA2454930757 | C1GALT1C1 | c.554G= (p.Gly185=) | |
| X | g.120626613C>G | CA414208202 | C1GALT1C1 | c.554G>C (p.Gly185Ala) | |
| X | g.120626613C>T | CA414208203 | C1GALT1C1 | c.554G>A (p.Gly185Glu) | dbSNP |
| X | g.120626614C>A | CA414208206 | C1GALT1C1 | c.553G>T (p.Gly185Ter) | |
| X | g.120626614C>G | CA414208208 | C1GALT1C1 | c.553G>C (p.Gly185Arg) | |
| X | g.120626614C>T | CA414208210 | C1GALT1C1 | c.553G>A (p.Gly185Arg) |