| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| X | g.120626875C>A | CA414209485 | C1GALT1C1 | c.292G>T (p.Glu98Ter) | |
| X | g.120626875C>G | CA414209487 | C1GALT1C1 | c.292G>C (p.Glu98Gln) | |
| X | g.120626875C>T | CA414209489 | C1GALT1C1 | c.292G>A (p.Glu98Lys) | |
| X | g.120626876T>A | CA518448724 | C1GALT1C1 | c.291A>T (p.Ala97=) | |
| X | g.120626876T>C | CA518448725 | C1GALT1C1 | c.291A>G (p.Ala97=) | |
| X | g.120626876T>G | CA518448726 | C1GALT1C1 | c.291A>C (p.Ala97=) | |
| X | g.120626877G>A | CA414209493 | C1GALT1C1 | c.290C>T (p.Ala97Val) | |
| X | g.120626877G>C | CA414209495 | C1GALT1C1 | c.290C>G (p.Ala97Gly) | |
| X | g.120626877G>T | CA414209491 | C1GALT1C1 | c.290C>A (p.Ala97Glu) | |
| X | g.120626878C>A | CA414209497 | C1GALT1C1 | c.289G>T (p.Ala97Ser) | |
| X | g.120626878C>G | CA414209499 | C1GALT1C1 | c.289G>C (p.Ala97Pro) | |
| X | g.120626878C>T | CA414209501 | C1GALT1C1 | c.289G>A (p.Ala97Thr) | |
| X | g.120626879T>A | CA414209503 | C1GALT1C1 | c.288A>T (p.Lys96Asn) | |
| X | g.120626879T>C | CA518448727 | C1GALT1C1 | c.288A>G (p.Lys96=) | |
| X | g.120626879T>G | CA414209505 | C1GALT1C1 | c.288A>C (p.Lys96Asn) | |
| X | g.120626880T>A | CA414209508 | C1GALT1C1 | c.287A>T (p.Lys96Ile) | |
| X | g.120626880T>C | CA414209510 | C1GALT1C1 | c.287A>G (p.Lys96Arg) | |
| X | g.120626880T>G | CA414209512 | C1GALT1C1 | c.287A>C (p.Lys96Thr) | |
| X | g.120626881T>A | CA414209514 | C1GALT1C1 | c.286A>T (p.Lys96Ter) | |
| X | g.120626881T>C | CA414209515 | C1GALT1C1 | c.286A>G (p.Lys96Glu) | |
| X | g.120626881T>G | CA414209517 | C1GALT1C1 | c.286A>C (p.Lys96Gln) | |
| X | g.120626882G>A | CA518448728 | C1GALT1C1 | c.285C>T (p.Asp95=) | |
| X | g.120626882G>C | CA414209523 | C1GALT1C1 | c.285C>G (p.Asp95Glu) | |
| X | g.120626882G>T | CA414209525 | C1GALT1C1 | c.285C>A (p.Asp95Glu) | |
| X | g.120626883T>A | CA414209533 | C1GALT1C1 | c.284A>T (p.Asp95Val) | |
| X | g.120626883T>C | CA414209531 | C1GALT1C1 | c.284A>G (p.Asp95Gly) | |
| X | g.120626883T>G | CA414209529 | C1GALT1C1 | c.284A>C (p.Asp95Ala) | |
| X | g.120626884C>A | CA414209535 | C1GALT1C1 | c.283G>T (p.Asp95Tyr) | |
| X | g.120626884C>G | CA414209536 | C1GALT1C1 | c.283G>C (p.Asp95His) | |
| X | g.120626884C>T | CA414209538 | C1GALT1C1 | c.283G>A (p.Asp95Asn) | |
| X | g.120626885A>C | CA414209541 | C1GALT1C1 | c.282T>G (p.Cys94Trp) | |
| X | g.120626885A>G | CA518448729 | C1GALT1C1 | c.282T>C (p.Cys94=) | |
| X | g.120626885A>T | CA414209542 | C1GALT1C1 | c.282T>A (p.Cys94Ter) | |
| X | g.120626886C>A | CA414209545 | C1GALT1C1 | c.281G>T (p.Cys94Phe) | |
| X | g.120626886C>G | CA414209546 | C1GALT1C1 | c.281G>C (p.Cys94Ser) | |
| X | g.120626886C>T | CA414209547 | C1GALT1C1 | c.281G>A (p.Cys94Tyr) | |
| X | g.120626887A>C | CA414209549 | C1GALT1C1 | c.280T>G (p.Cys94Gly) | |
| X | g.120626887A>G | CA414209551 | C1GALT1C1 | c.280T>C (p.Cys94Arg) | |
| X | g.120626887A>T | CA414209552 | C1GALT1C1 | c.280T>A (p.Cys94Ser) | |
| X | g.120626888G>A | CA10505977 | C1GALT1C1 | c.279C>T (p.His93=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626888G>C | CA414209554 | C1GALT1C1 | c.279C>G (p.His93Gln) | |
| X | g.120626888G= | CA2454930906 | C1GALT1C1 | c.279C= (p.His93=) | |
| X | g.120626888G>T | CA414209555 | C1GALT1C1 | c.279C>A (p.His93Gln) | |
| X | g.120626889T>A | CA414209558 | C1GALT1C1 | c.278A>T (p.His93Leu) | |
| X | g.120626889T>C | CA414209561 | C1GALT1C1 | c.278A>G (p.His93Arg) | gnomAD v4 |
| X | g.120626889T>G | CA414209556 | C1GALT1C1 | c.278A>C (p.His93Pro) | |
| X | g.120626890G>A | CA414209563 | C1GALT1C1 | c.277C>T (p.His93Tyr) | |
| X | g.120626890G>C | CA414209562 | C1GALT1C1 | c.277C>G (p.His93Asp) | |
| X | g.120626890G>T | CA414209564 | C1GALT1C1 | c.277C>A (p.His93Asn) | |
| X | g.120626891T>A | CA414209566 | C1GALT1C1 | c.276A>T (p.Lys92Asn) | |
| X | g.120626891T>C | CA518448730 | C1GALT1C1 | c.276A>G (p.Lys92=) | |
| X | g.120626891T>G | CA414209568 | C1GALT1C1 | c.276A>C (p.Lys92Asn) | |
| X | g.120626892T>A | CA414209570 | C1GALT1C1 | c.275A>T (p.Lys92Ile) | |
| X | g.120626892T>C | CA414209572 | C1GALT1C1 | c.275A>G (p.Lys92Arg) | |
| X | g.120626892T>G | CA414209573 | C1GALT1C1 | c.275A>C (p.Lys92Thr) | |
| X | g.120626893T>A | CA414209575 | C1GALT1C1 | c.274A>T (p.Lys92Ter) | |
| X | g.120626893T>C | CA414209577 | C1GALT1C1 | c.274A>G (p.Lys92Glu) | |
| X | g.120626893T>G | CA414209579 | C1GALT1C1 | c.274A>C (p.Lys92Gln) | |
| X | g.120626894G>A | CA518448732 | C1GALT1C1 | c.273C>T (p.Thr91=) | |
| X | g.120626894G>C | CA518448733 | C1GALT1C1 | c.273C>G (p.Thr91=) | gnomAD v4 |
| X | g.120626894G>T | CA518448734 | C1GALT1C1 | c.273C>A (p.Thr91=) | |
| X | g.120626895G>A | CA414209582 | C1GALT1C1 | c.272C>T (p.Thr91Ile) | |
| X | g.120626895G>C | CA414209584 | C1GALT1C1 | c.272C>G (p.Thr91Ser) | |
| X | g.120626895G>T | CA414209586 | C1GALT1C1 | c.272C>A (p.Thr91Asn) | |
| X | g.120626896T>A | CA414209590 | C1GALT1C1 | c.271A>T (p.Thr91Ser) | |
| X | g.120626896T>C | CA414209589 | C1GALT1C1 | c.271A>G (p.Thr91Ala) | |
| X | g.120626896T>G | CA414209588 | C1GALT1C1 | c.271A>C (p.Thr91Pro) | |
| X | g.120626897C>A | CA414209592 | C1GALT1C1 | c.270G>T (p.Trp90Cys) | |
| X | g.120626897C= | CA2454930909 | C1GALT1C1 | c.270G= (p.Trp90=) | |
| X | g.120626897C>G | CA414209593 | C1GALT1C1 | c.270G>C (p.Trp90Cys) | dbSNP |
| X | g.120626897C>T | CA414209597 | C1GALT1C1 | c.270G>A (p.Trp90Ter) | |
| X | g.120626898C>A | CA414209600 | C1GALT1C1 | c.269G>T (p.Trp90Leu) | |
| X | g.120626898C>G | CA414209601 | C1GALT1C1 | c.269G>C (p.Trp90Ser) | |
| X | g.120626898C>T | CA414209603 | C1GALT1C1 | c.269G>A (p.Trp90Ter) | |
| X | g.120626899A>C | CA414209606 | C1GALT1C1 | c.268T>G (p.Trp90Gly) | |
| X | g.120626899A>G | CA414209609 | C1GALT1C1 | c.268T>C (p.Trp90Arg) | |
| X | g.120626899A>T | CA414209611 | C1GALT1C1 | c.268T>A (p.Trp90Arg) | |
| X | g.120626900A>C | CA518448334 | C1GALT1C1 | c.267T>G (p.Thr89=) | |
| X | g.120626900A>G | CA518448335 | C1GALT1C1 | c.267T>C (p.Thr89=) | |
| X | g.120626900A>T | CA518448336 | C1GALT1C1 | c.267T>A (p.Thr89=) | |
| X | g.120626901G>A | CA414209612 | C1GALT1C1 | c.266C>T (p.Thr89Ile) | ClinVar |
| X | g.120626901G>C | CA414209613 | C1GALT1C1 | c.266C>G (p.Thr89Ser) | |
| X | g.120626901G>T | CA414209614 | C1GALT1C1 | c.266C>A (p.Thr89Asn) | |
| X | g.120626902T>A | CA414209616 | C1GALT1C1 | c.265A>T (p.Thr89Ser) | |
| X | g.120626902T>C | CA414209617 | C1GALT1C1 | c.265A>G (p.Thr89Ala) | |
| X | g.120626902T>G | CA414209615 | C1GALT1C1 | c.265A>C (p.Thr89Pro) | |
| X | g.120626903C>A | CA414209618 | C1GALT1C1 | c.264G>T (p.Glu88Asp) | |
| X | g.120626903C>G | CA414209620 | C1GALT1C1 | c.264G>C (p.Glu88Asp) | |
| X | g.120626903C>T | CA518448339 | C1GALT1C1 | c.264G>A (p.Glu88=) | |
| X | g.120626904T>A | CA414209623 | C1GALT1C1 | c.263A>T (p.Glu88Val) | |
| X | g.120626904T>C | CA414209624 | C1GALT1C1 | c.263A>G (p.Glu88Gly) | |
| X | g.120626904T>G | CA414209629 | C1GALT1C1 | c.263A>C (p.Glu88Ala) | |
| X | g.120626905C>A | CA414209632 | C1GALT1C1 | c.262G>T (p.Glu88Ter) | |
| X | g.120626905C>G | CA414209633 | C1GALT1C1 | c.262G>C (p.Glu88Gln) | |
| X | g.120626905C>T | CA414209635 | C1GALT1C1 | c.262G>A (p.Glu88Lys) | |
| X | g.120626906C>A | CA414209637 | C1GALT1C1 | c.261G>T (p.Lys87Asn) | |
| X | g.120626906C>G | CA414209639 | C1GALT1C1 | c.261G>C (p.Lys87Asn) | |
| X | g.120626906C>T | CA518448342 | C1GALT1C1 | c.261G>A (p.Lys87=) | |
| X | g.120626907T>A | CA414209641 | C1GALT1C1 | c.260A>T (p.Lys87Met) | |
| X | g.120626907T>C | CA414209643 | C1GALT1C1 | c.260A>G (p.Lys87Arg) | |
| X | g.120626907T>G | CA414209645 | C1GALT1C1 | c.260A>C (p.Lys87Thr) | |
| X | g.120626908T>A | CA414209649 | C1GALT1C1 | c.259A>T (p.Lys87Ter) | |
| X | g.120626908T>C | CA414209648 | C1GALT1C1 | c.259A>G (p.Lys87Glu) | |
| X | g.120626908T>G | CA414209647 | C1GALT1C1 | c.259A>C (p.Lys87Gln) | |
| X | g.120626909T>A | CA518448346 | C1GALT1C1 | c.258A>T (p.Val86=) | |
| X | g.120626909T>C | CA518448348 | C1GALT1C1 | c.258A>G (p.Val86=) | dbSNP gnomAD v4 |
| X | g.120626909T>G | CA518448349 | C1GALT1C1 | c.258A>C (p.Val86=) | |
| X | g.120626909T= | CA2454930911 | C1GALT1C1 | c.258A= (p.Val86=) | |
| X | g.120626910A>C | CA414209651 | C1GALT1C1 | c.257T>G (p.Val86Gly) | |
| X | g.120626910A>G | CA414209657 | C1GALT1C1 | c.257T>C (p.Val86Ala) | |
| X | g.120626910A>T | CA414209660 | C1GALT1C1 | c.257T>A (p.Val86Glu) | |
| X | g.120626911C>A | CA414209662 | C1GALT1C1 | c.256G>T (p.Val86Leu) | |
| X | g.120626911C= | CA2454930913 | C1GALT1C1 | c.256G= (p.Val86=) | |
| X | g.120626911C>G | CA10505978 | C1GALT1C1 | c.256G>C (p.Val86Leu) | dbSNP ExAC |
| X | g.120626911C>T | CA414209663 | C1GALT1C1 | c.256G>A (p.Val86Ile) | |
| X | g.120626912T>A | CA518448352 | C1GALT1C1 | c.255A>T (p.Ala85=) | |
| X | g.120626912T>C | CA518448353 | C1GALT1C1 | c.255A>G (p.Ala85=) | dbSNP gnomAD v4 |
| X | g.120626912T>G | CA518448354 | C1GALT1C1 | c.255A>C (p.Ala85=) | |
| X | g.120626912T= | CA2454930914 | C1GALT1C1 | c.255A= (p.Ala85=) | |
| X | g.120626913G>A | CA414209664 | C1GALT1C1 | c.254C>T (p.Ala85Val) | gnomAD v4 |
| X | g.120626913G>C | CA414209666 | C1GALT1C1 | c.254C>G (p.Ala85Gly) | |
| X | g.120626913G>T | CA414209668 | C1GALT1C1 | c.254C>A (p.Ala85Glu) | |
| X | g.120626914C>A | CA414209670 | C1GALT1C1 | c.253G>T (p.Ala85Ser) | |
| X | g.120626914C>G | CA414209672 | C1GALT1C1 | c.253G>C (p.Ala85Pro) | |
| X | g.120626914C>T | CA414209673 | C1GALT1C1 | c.253G>A (p.Ala85Thr) | |
| X | g.120626915A>C | CA518448355 | C1GALT1C1 | c.252T>G (p.Ala84=) | |
| X | g.120626915A>G | CA518448357 | C1GALT1C1 | c.252T>C (p.Ala84=) | |
| X | g.120626915A>T | CA518448358 | C1GALT1C1 | c.252T>A (p.Ala84=) | |
| X | g.120626916G>A | CA10505979 | C1GALT1C1 | c.251C>T (p.Ala84Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626916G>C | CA414209677 | C1GALT1C1 | c.251C>G (p.Ala84Gly) | |
| X | g.120626916G= | CA2454930916 | C1GALT1C1 | c.251C= (p.Ala84=) | |
| X | g.120626916G>T | CA414209675 | C1GALT1C1 | c.251C>A (p.Ala84Asp) | |
| X | g.120626917C>A | CA414209682 | C1GALT1C1 | c.250G>T (p.Ala84Ser) | |
| X | g.120626917C>G | CA414209685 | C1GALT1C1 | c.250G>C (p.Ala84Pro) | |
| X | g.120626917C>T | CA414209684 | C1GALT1C1 | c.250G>A (p.Ala84Thr) | |
| X | g.120626918C>A | CA414209687 | C1GALT1C1 | c.249G>T (p.Trp83Cys) | |
| X | g.120626918C>G | CA414209689 | C1GALT1C1 | c.249G>C (p.Trp83Cys) | |
| X | g.120626918C>T | CA414209691 | C1GALT1C1 | c.249G>A (p.Trp83Ter) | |
| X | g.120626919C>A | CA414209693 | C1GALT1C1 | c.248G>T (p.Trp83Leu) | |
| X | g.120626919C>G | CA414209695 | C1GALT1C1 | c.248G>C (p.Trp83Ser) | |
| X | g.120626919C>T | CA414209697 | C1GALT1C1 | c.248G>A (p.Trp83Ter) | |
| X | g.120626920A>C | CA414209700 | C1GALT1C1 | c.247T>G (p.Trp83Gly) | |
| X | g.120626920A>G | CA414209702 | C1GALT1C1 | c.247T>C (p.Trp83Arg) | |
| X | g.120626920A>T | CA414209704 | C1GALT1C1 | c.247T>A (p.Trp83Arg) | |
| X | g.120626921A>C | CA518448364 | C1GALT1C1 | c.246T>G (p.Leu82=) | |
| X | g.120626921A>G | CA518448365 | C1GALT1C1 | c.246T>C (p.Leu82=) | |
| X | g.120626921A>T | CA518448366 | C1GALT1C1 | c.246T>A (p.Leu82=) | |
| X | g.120626922A= | CA2454930918 | C1GALT1C1 | c.245T= (p.Leu82=) | |
| X | g.120626922A>C | CA414209707 | C1GALT1C1 | c.245T>G (p.Leu82Arg) | |
| X | g.120626922A>G | CA414209709 | C1GALT1C1 | c.245T>C (p.Leu82Pro) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626922A>T | CA414209711 | C1GALT1C1 | c.245T>A (p.Leu82His) | |
| X | g.120626923G>A | CA414209717 | C1GALT1C1 | c.244C>T (p.Leu82Phe) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626923G>C | CA414209714 | C1GALT1C1 | c.244C>G (p.Leu82Val) | |
| X | g.120626923G= | CA2454930920 | C1GALT1C1 | c.244C= (p.Leu82=) | |
| X | g.120626923G>T | CA414209716 | C1GALT1C1 | c.244C>A (p.Leu82Ile) | COSMIC |
| X | g.120626924A>C | CA414209721 | C1GALT1C1 | c.243T>G (p.Ser81Arg) | |
| X | g.120626924A>G | CA518448369 | C1GALT1C1 | c.243T>C (p.Ser81=) | |
| X | g.120626924A>T | CA414209723 | C1GALT1C1 | c.243T>A (p.Ser81Arg) | |
| X | g.120626925C>A | CA414209725 | C1GALT1C1 | c.242G>T (p.Ser81Ile) | |
| X | g.120626925C>G | CA414209727 | C1GALT1C1 | c.242G>C (p.Ser81Thr) | |
| X | g.120626925C>T | CA414209729 | C1GALT1C1 | c.242G>A (p.Ser81Asn) | gnomAD v4 |
| X | g.120626926T>A | CA414209732 | C1GALT1C1 | c.241A>T (p.Ser81Cys) | |
| X | g.120626926T>C | CA414209734 | C1GALT1C1 | c.241A>G (p.Ser81Gly) | gnomAD v4 |
| X | g.120626926T>G | CA414209736 | C1GALT1C1 | c.241A>C (p.Ser81Arg) | |
| X | g.120626927C>A | CA518448374 | C1GALT1C1 | c.240G>T (p.Val80=) | |
| X | g.120626927C>G | CA518448372 | C1GALT1C1 | c.240G>C (p.Val80=) | |
| X | g.120626927C>T | CA518448371 | C1GALT1C1 | c.240G>A (p.Val80=) | |
| X | g.120626928A>C | CA414209739 | C1GALT1C1 | c.239T>G (p.Val80Gly) | |
| X | g.120626928A>G | CA414209741 | C1GALT1C1 | c.239T>C (p.Val80Ala) | |
| X | g.120626928A>T | CA414209744 | C1GALT1C1 | c.239T>A (p.Val80Glu) | |
| X | g.120626929C>A | CA414209751 | C1GALT1C1 | c.238G>T (p.Val80Leu) | |
| X | g.120626929C>G | CA414209749 | C1GALT1C1 | c.238G>C (p.Val80Leu) | |
| X | g.120626929C>T | CA414209747 | C1GALT1C1 | c.238G>A (p.Val80Met) | |
| X | g.120626930A>C | CA414209753 | C1GALT1C1 | c.237T>G (p.Asp79Glu) | |
| X | g.120626930A>G | CA518448380 | C1GALT1C1 | c.237T>C (p.Asp79=) | |
| X | g.120626930A>T | CA414209755 | C1GALT1C1 | c.237T>A (p.Asp79Glu) | |
| X | g.120626931T>A | CA414209758 | C1GALT1C1 | c.236A>T (p.Asp79Val) | |
| X | g.120626931T>C | CA414209760 | C1GALT1C1 | c.236A>G (p.Asp79Gly) | |
| X | g.120626931T>G | CA414209762 | C1GALT1C1 | c.236A>C (p.Asp79Ala) | |
| X | g.120626932C>A | CA414209764 | C1GALT1C1 | c.235G>T (p.Asp79Tyr) | COSMIC |
| X | g.120626932C>G | CA414209766 | C1GALT1C1 | c.235G>C (p.Asp79His) | |
| X | g.120626932C>T | CA414209768 | C1GALT1C1 | c.235G>A (p.Asp79Asn) | |
| X | g.120626933T>A | CA414209771 | C1GALT1C1 | c.234A>T (p.Lys78Asn) | |
| X | g.120626933T>C | CA518448382 | C1GALT1C1 | c.234A>G (p.Lys78=) | |
| X | g.120626933T>G | CA414209774 | C1GALT1C1 | c.234A>C (p.Lys78Asn) | |
| X | g.120626934T>A | CA414209777 | C1GALT1C1 | c.233A>T (p.Lys78Ile) | |
| X | g.120626934T>C | CA414209778 | C1GALT1C1 | c.233A>G (p.Lys78Arg) | |
| X | g.120626934T>G | CA414209780 | C1GALT1C1 | c.233A>C (p.Lys78Thr) | |
| X | g.120626935T>A | CA414209787 | C1GALT1C1 | c.232A>T (p.Lys78Ter) | |
| X | g.120626935T>C | CA414209783 | C1GALT1C1 | c.232A>G (p.Lys78Glu) | |
| X | g.120626935T>G | CA414209785 | C1GALT1C1 | c.232A>C (p.Lys78Gln) | |
| X | g.120626936G>A | CA518448393 | C1GALT1C1 | c.231C>T (p.Pro77=) | |
| X | g.120626936G>C | CA518448394 | C1GALT1C1 | c.231C>G (p.Pro77=) | |
| X | g.120626936G= | CA2454930922 | C1GALT1C1 | c.231C= (p.Pro77=) | |
| X | g.120626936G>T | CA10505980 | C1GALT1C1 | c.231C>A (p.Pro77=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626937G>A | CA414209792 | C1GALT1C1 | c.230C>T (p.Pro77Leu) | |
| X | g.120626937G>C | CA414209794 | C1GALT1C1 | c.230C>G (p.Pro77Arg) | |
| X | g.120626937G>T | CA414209795 | C1GALT1C1 | c.230C>A (p.Pro77His) | |
| X | g.120626938G>A | CA414209798 | C1GALT1C1 | c.229C>T (p.Pro77Ser) | |
| X | g.120626938G>C | CA414209800 | C1GALT1C1 | c.229C>G (p.Pro77Ala) | |
| X | g.120626938G>T | CA414209802 | C1GALT1C1 | c.229C>A (p.Pro77Thr) | |
| X | g.120626939T>A | CA414209804 | C1GALT1C1 | c.228A>T (p.Lys76Asn) | |
| X | g.120626939T>C | CA518448397 | C1GALT1C1 | c.228A>G (p.Lys76=) | |
| X | g.120626939T>G | CA10505981 | C1GALT1C1 | c.228A>C (p.Lys76Asn) | dbSNP ExAC |
| X | g.120626939T= | CA2454930924 | C1GALT1C1 | c.228A= (p.Lys76=) | |
| X | g.120626940T>A | CA414209808 | C1GALT1C1 | c.227A>T (p.Lys76Ile) | |
| X | g.120626940T>C | CA414209810 | C1GALT1C1 | c.227A>G (p.Lys76Arg) | |
| X | g.120626940T>G | CA414209812 | C1GALT1C1 | c.227A>C (p.Lys76Thr) | |
| X | g.120626941T>A | CA414209820 | C1GALT1C1 | c.226A>T (p.Lys76Ter) | |
| X | g.120626941T>C | CA414209817 | C1GALT1C1 | c.226A>G (p.Lys76Glu) | |
| X | g.120626941T>G | CA414209816 | C1GALT1C1 | c.226A>C (p.Lys76Gln) | |
| X | g.120626942T>A | CA518448400 | C1GALT1C1 | c.225A>T (p.Val75=) | |
| X | g.120626942T>C | CA518448402 | C1GALT1C1 | c.225A>G (p.Val75=) | gnomAD v4 |
| X | g.120626942T>G | CA518448403 | C1GALT1C1 | c.225A>C (p.Val75=) | |
| X | g.120626943A>C | CA414209823 | C1GALT1C1 | c.224T>G (p.Val75Gly) | |
| X | g.120626943A>G | CA414209827 | C1GALT1C1 | c.224T>C (p.Val75Ala) | |
| X | g.120626943A>T | CA414209825 | C1GALT1C1 | c.224T>A (p.Val75Glu) | |
| X | g.120626944C>A | CA414209830 | C1GALT1C1 | c.223G>T (p.Val75Leu) | |
| X | g.120626944C>G | CA414209834 | C1GALT1C1 | c.223G>C (p.Val75Leu) | |
| X | g.120626944C>T | CA414209832 | C1GALT1C1 | c.223G>A (p.Val75Ile) | |
| X | g.120626945A>C | CA518448407 | C1GALT1C1 | c.222T>G (p.Leu74=) | |
| X | g.120626945A>G | CA518448408 | C1GALT1C1 | c.222T>C (p.Leu74=) | |
| X | g.120626945A>T | CA518448409 | C1GALT1C1 | c.222T>A (p.Leu74=) | |
| X | g.120626946A>C | CA414209837 | C1GALT1C1 | c.221T>G (p.Leu74Arg) | |
| X | g.120626946A>G | CA414209839 | C1GALT1C1 | c.221T>C (p.Leu74Pro) | |
| X | g.120626946A>T | CA414209841 | C1GALT1C1 | c.221T>A (p.Leu74His) | |
| X | g.120626947G>A | CA414209844 | C1GALT1C1 | c.220C>T (p.Leu74Phe) | gnomAD v4 |
| X | g.120626947G>C | CA414209846 | C1GALT1C1 | c.220C>G (p.Leu74Val) | |
| X | g.120626947G= | CA2454930926 | C1GALT1C1 | c.220C= (p.Leu74=) | |
| X | g.120626947G>T | CA10505982 | C1GALT1C1 | c.220C>A (p.Leu74Ile) | dbSNP ExAC gnomAD v2 |
| X | g.120626948G>A | CA518448414 | C1GALT1C1 | c.219C>T (p.Ile73=) | |
| X | g.120626948G>C | CA414209851 | C1GALT1C1 | c.219C>G (p.Ile73Met) | |
| X | g.120626948G>T | CA518448417 | C1GALT1C1 | c.219C>A (p.Ile73=) | gnomAD v4 |
| X | g.120626949A>C | CA414209858 | C1GALT1C1 | c.218T>G (p.Ile73Ser) | |
| X | g.120626949A>G | CA414209853 | C1GALT1C1 | c.218T>C (p.Ile73Thr) | |
| X | g.120626949A>T | CA414209856 | C1GALT1C1 | c.218T>A (p.Ile73Asn) | |
| X | g.120626950T>A | CA414209861 | C1GALT1C1 | c.217A>T (p.Ile73Phe) | |
| X | g.120626950T>C | CA414209862 | C1GALT1C1 | c.217A>G (p.Ile73Val) | |
| X | g.120626950T>G | CA414209864 | C1GALT1C1 | c.217A>C (p.Ile73Leu) | |
| X | g.120626951A= | CA2454930929 | C1GALT1C1 | c.216T= (p.Ile72=) | |
| X | g.120626951A>C | CA414209866 | C1GALT1C1 | c.216T>G (p.Ile72Met) | |
| X | g.120626951A>G | CA10505983 | C1GALT1C1 | c.216T>C (p.Ile72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626951A>T | CA518448418 | C1GALT1C1 | c.216T>A (p.Ile72=) | |
| X | g.120626952A>C | CA414209870 | C1GALT1C1 | c.215T>G (p.Ile72Ser) | |
| X | g.120626952A>G | CA414209873 | C1GALT1C1 | c.215T>C (p.Ile72Thr) | COSMIC |
| X | g.120626952A>T | CA414209871 | C1GALT1C1 | c.215T>A (p.Ile72Asn) | |
| X | g.120626953T>A | CA414209876 | C1GALT1C1 | c.214A>T (p.Ile72Phe) | |
| X | g.120626953T>C | CA414209879 | C1GALT1C1 | c.214A>G (p.Ile72Val) | |
| X | g.120626953T>G | CA414209881 | C1GALT1C1 | c.214A>C (p.Ile72Leu) | |
| X | g.120626954A>C | CA414209883 | C1GALT1C1 | c.213T>G (p.Cys71Trp) | |
| X | g.120626954A>G | CA518448423 | C1GALT1C1 | c.213T>C (p.Cys71=) | |
| X | g.120626954A>T | CA414209884 | C1GALT1C1 | c.213T>A (p.Cys71Ter) | |
| X | g.120626955C>A | CA414209888 | C1GALT1C1 | c.212G>T (p.Cys71Phe) | |
| X | g.120626955C>G | CA414209890 | C1GALT1C1 | c.212G>C (p.Cys71Ser) | |
| X | g.120626955C>T | CA414209892 | C1GALT1C1 | c.212G>A (p.Cys71Tyr) | |
| X | g.120626956A>C | CA414209894 | C1GALT1C1 | c.211T>G (p.Cys71Gly) | |
| X | g.120626956A>G | CA414209897 | C1GALT1C1 | c.211T>C (p.Cys71Arg) | |
| X | g.120626956A>T | CA414209899 | C1GALT1C1 | c.211T>A (p.Cys71Ser) | |
| X | g.120626957G>A | CA10505984 | C1GALT1C1 | c.210C>T (p.Tyr70=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626957G>C | CA414209904 | C1GALT1C1 | c.210C>G (p.Tyr70Ter) | |
| X | g.120626957G= | CA2454930932 | C1GALT1C1 | c.210C= (p.Tyr70=) | |
| X | g.120626957G>T | CA414209903 | C1GALT1C1 | c.210C>A (p.Tyr70Ter) | |
| X | g.120626958T>A | CA414209908 | C1GALT1C1 | c.209A>T (p.Tyr70Phe) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626958T>C | CA414209910 | C1GALT1C1 | c.209A>G (p.Tyr70Cys) | |
| X | g.120626958T>G | CA414209912 | C1GALT1C1 | c.209A>C (p.Tyr70Ser) | |
| X | g.120626958T= | CA2454930934 | C1GALT1C1 | c.209A= (p.Tyr70=) | |
| X | g.120626959A= | CA2454930936 | C1GALT1C1 | c.208T= (p.Tyr70=) | |
| X | g.120626959A>C | CA414209915 | C1GALT1C1 | c.208T>G (p.Tyr70Asp) | |
| X | g.120626959A>G | CA334145039 | C1GALT1C1 | c.208T>C (p.Tyr70His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626959A>T | CA414209918 | C1GALT1C1 | c.208T>A (p.Tyr70Asn) | |
| X | g.120626960T>A | CA518448428 | C1GALT1C1 | c.207A>T (p.Val69=) | |
| X | g.120626960T>C | CA518448429 | C1GALT1C1 | c.207A>G (p.Val69=) | |
| X | g.120626960T>G | CA518448430 | C1GALT1C1 | c.207A>C (p.Val69=) | |
| X | g.120626961A>C | CA414209921 | C1GALT1C1 | c.206T>G (p.Val69Gly) | |
| X | g.120626961A>G | CA414209923 | C1GALT1C1 | c.206T>C (p.Val69Ala) | |
| X | g.120626961A>T | CA414209925 | C1GALT1C1 | c.206T>A (p.Val69Glu) | |
| X | g.120626962C>A | CA414209928 | C1GALT1C1 | c.205G>T (p.Val69Leu) | |
| X | g.120626962C= | CA2454930938 | C1GALT1C1 | c.205G= (p.Val69=) | |
| X | g.120626962C>G | CA414209931 | C1GALT1C1 | c.205G>C (p.Val69Leu) | |
| X | g.120626962C>T | CA10505985 | C1GALT1C1 | c.205G>A (p.Val69Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626963T>A | CA518448435 | C1GALT1C1 | c.204A>T (p.Arg68=) | |
| X | g.120626963T>C | CA518448437 | C1GALT1C1 | c.204A>G (p.Arg68=) | |
| X | g.120626963T>G | CA518448436 | C1GALT1C1 | c.204A>C (p.Arg68=) | |
| X | g.120626964C>A | CA414209939 | C1GALT1C1 | c.203G>T (p.Arg68Leu) | |
| X | g.120626964C= | CA2454930940 | C1GALT1C1 | c.203G= (p.Arg68=) | |
| X | g.120626964C>G | CA414209936 | C1GALT1C1 | c.203G>C (p.Arg68Pro) | |
| X | g.120626964C>T | CA10505986 | C1GALT1C1 | c.203G>A (p.Arg68Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.120626965G>A | CA121171 | C1GALT1C1 | c.202C>T (p.Arg68Ter) | ClinVar dbSNP ExAC COSMIC |
| X | g.120626965G>C | CA414209943 | C1GALT1C1 | c.202C>G (p.Arg68Gly) | |
| X | g.120626965G= | CA2454930943 | C1GALT1C1 | c.202C= (p.Arg68=) | |
| X | g.120626965G>T | CA518448438 | C1GALT1C1 | c.202C>A (p.Arg68=) | |
| X | g.120626966A>C | CA414209945 | C1GALT1C1 | c.201T>G (p.Phe67Leu) | |
| X | g.120626966A>G | CA518448440 | C1GALT1C1 | c.201T>C (p.Phe67=) | |
| X | g.120626966A>T | CA414209948 | C1GALT1C1 | c.201T>A (p.Phe67Leu) | |
| X | g.120626967A>C | CA414209952 | C1GALT1C1 | c.200T>G (p.Phe67Cys) | |
| X | g.120626967A>G | CA414209954 | C1GALT1C1 | c.200T>C (p.Phe67Ser) | |
| X | g.120626967A>T | CA414209956 | C1GALT1C1 | c.200T>A (p.Phe67Tyr) | |
| X | g.120626968A>C | CA414209958 | C1GALT1C1 | c.199T>G (p.Phe67Val) | |
| X | g.120626968A>G | CA414209961 | C1GALT1C1 | c.199T>C (p.Phe67Leu) | |
| X | g.120626968A>T | CA414209963 | C1GALT1C1 | c.199T>A (p.Phe67Ile) |