| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 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) |