| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120627031C>A | CA414210308 | C1GALT1C1 | c.136G>T (p.Ala46Ser) | |
| X | g.120627031C= | CA2454930971 | C1GALT1C1 | c.136G= (p.Ala46=) | |
| X | g.120627031C>G | CA414210307 | C1GALT1C1 | c.136G>C (p.Ala46Pro) | gnomAD v4 |
| X | g.120627031C>T | CA10505996 | C1GALT1C1 | c.136G>A (p.Ala46Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120627032T>A | CA414210310 | C1GALT1C1 | c.135A>T (p.Gln45His) | |
| X | g.120627032T>C | CA10505997 | C1GALT1C1 | c.135A>G (p.Gln45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120627032T>G | CA414210314 | C1GALT1C1 | c.135A>C (p.Gln45His) | |
| X | g.120627032T= | CA2454930972 | C1GALT1C1 | c.135A= (p.Gln45=) | |
| X | g.120627033T>A | CA414210318 | C1GALT1C1 | c.134A>T (p.Gln45Leu) | |
| X | g.120627033T>C | CA414210321 | C1GALT1C1 | c.134A>G (p.Gln45Arg) | |
| X | g.120627033T>G | CA414210322 | C1GALT1C1 | c.134A>C (p.Gln45Pro) | |
| X | g.120627034G>A | CA414210326 | C1GALT1C1 | c.133C>T (p.Gln45Ter) | |
| X | g.120627034G>C | CA414210329 | C1GALT1C1 | c.133C>G (p.Gln45Glu) | |
| X | g.120627034G>T | CA414210331 | C1GALT1C1 | c.133C>A (p.Gln45Lys) | |
| X | g.120627035T>A | CA518448502 | C1GALT1C1 | c.132A>T (p.Leu44=) | |
| X | g.120627035T>C | CA518448503 | C1GALT1C1 | c.132A>G (p.Leu44=) | dbSNP gnomAD v4 |
| X | g.120627035T>G | CA518448505 | C1GALT1C1 | c.132A>C (p.Leu44=) | |
| X | g.120627035T= | CA2454930973 | C1GALT1C1 | c.132A= (p.Leu44=) | |
| X | g.120627036A>C | CA414210333 | C1GALT1C1 | c.131T>G (p.Leu44Arg) | |
| X | g.120627036A>G | CA414210335 | C1GALT1C1 | c.131T>C (p.Leu44Pro) | |
| X | g.120627036A>T | CA414210337 | C1GALT1C1 | c.131T>A (p.Leu44Gln) | |
| X | g.120627037G>A | CA518448507 | C1GALT1C1 | c.130C>T (p.Leu44=) | |
| X | g.120627037G>C | CA414210339 | C1GALT1C1 | c.130C>G (p.Leu44Val) | |
| X | g.120627037G>T | CA414210341 | C1GALT1C1 | c.130C>A (p.Leu44Ile) | |
| X | g.120627038G>A | CA518448508 | C1GALT1C1 | c.129C>T (p.His43=) | |
| X | g.120627038G>C | CA414210348 | C1GALT1C1 | c.129C>G (p.His43Gln) | |
| X | g.120627038G>T | CA414210343 | C1GALT1C1 | c.129C>A (p.His43Gln) | |
| X | g.120627039T>A | CA414210351 | C1GALT1C1 | c.128A>T (p.His43Leu) | |
| X | g.120627039T>C | CA414210353 | C1GALT1C1 | c.128A>G (p.His43Arg) | |
| X | g.120627039T>G | CA414210355 | C1GALT1C1 | c.128A>C (p.His43Pro) | |
| X | g.120627040G>A | CA414210358 | C1GALT1C1 | c.127C>T (p.His43Tyr) | |
| X | g.120627040G>C | CA414210360 | C1GALT1C1 | c.127C>G (p.His43Asp) | |
| X | g.120627040G>T | CA414210362 | C1GALT1C1 | c.127C>A (p.His43Asn) | |
| X | g.120627041A>C | CA414210364 | C1GALT1C1 | c.126T>G (p.His42Gln) | |
| X | g.120627041A>G | CA518448509 | C1GALT1C1 | c.126T>C (p.His42=) | |
| X | g.120627041A>T | CA414210366 | C1GALT1C1 | c.126T>A (p.His42Gln) | |
| X | g.120627042T>A | CA414210369 | C1GALT1C1 | c.125A>T (p.His42Leu) | |
| X | g.120627042T>C | CA414210371 | C1GALT1C1 | c.125A>G (p.His42Arg) | gnomAD v4 |
| X | g.120627042T>G | CA414210373 | C1GALT1C1 | c.125A>C (p.His42Pro) | |
| X | g.120627043G>A | CA414210377 | C1GALT1C1 | c.124C>T (p.His42Tyr) | |
| X | g.120627043G>C | CA414210379 | C1GALT1C1 | c.124C>G (p.His42Asp) | |
| X | g.120627043G>T | CA414210381 | C1GALT1C1 | c.124C>A (p.His42Asn) | |
| X | g.120627044A>C | CA414210385 | C1GALT1C1 | c.123T>G (p.His41Gln) | |
| X | g.120627044A>G | CA518448512 | C1GALT1C1 | c.123T>C (p.His41=) | |
| X | g.120627044A>T | CA414210382 | C1GALT1C1 | c.123T>A (p.His41Gln) | |
| X | g.120627045T>A | CA414210387 | C1GALT1C1 | c.122A>T (p.His41Leu) | |
| X | g.120627045T>C | CA414210392 | C1GALT1C1 | c.122A>G (p.His41Arg) | |
| X | g.120627045T>G | CA414210390 | C1GALT1C1 | c.122A>C (p.His41Pro) | |
| X | g.120627046G>A | CA414210395 | C1GALT1C1 | c.121C>T (p.His41Tyr) | |
| X | g.120627046G>C | CA414210398 | C1GALT1C1 | c.121C>G (p.His41Asp) | |
| X | g.120627046G>T | CA414210397 | C1GALT1C1 | c.121C>A (p.His41Asn) | |
| X | g.120627047C>A | CA414210400 | C1GALT1C1 | c.120G>T (p.Glu40Asp) | |
| X | g.120627047C>G | CA414210401 | C1GALT1C1 | c.120G>C (p.Glu40Asp) | |
| X | g.120627047C>T | CA518448513 | C1GALT1C1 | c.120G>A (p.Glu40=) | gnomAD v4 |
| X | g.120627048T>A | CA414210404 | C1GALT1C1 | c.119A>T (p.Glu40Val) | |
| X | g.120627048T>C | CA414210407 | C1GALT1C1 | c.119A>G (p.Glu40Gly) | |
| X | g.120627048T>G | CA414210409 | C1GALT1C1 | c.119A>C (p.Glu40Ala) | |
| X | g.120627049C>A | CA414210411 | C1GALT1C1 | c.118G>T (p.Glu40Ter) | |
| X | g.120627049C= | CA2454930974 | C1GALT1C1 | c.118G= (p.Glu40=) | |
| X | g.120627049C>G | CA414210414 | C1GALT1C1 | c.118G>C (p.Glu40Gln) | |
| X | g.120627049C>T | CA10505998 | C1GALT1C1 | c.118G>A (p.Glu40Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.120627050A= | CA2454930975 | C1GALT1C1 | c.117T= (p.His39=) | |
| X | g.120627050A>C | CA414210419 | C1GALT1C1 | c.117T>G (p.His39Gln) | gnomAD v4 |
| X | g.120627050A>G | CA518448517 | C1GALT1C1 | c.117T>C (p.His39=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120627050A>T | CA414210422 | C1GALT1C1 | c.117T>A (p.His39Gln) | |
| X | g.120627051T>A | CA414210424 | C1GALT1C1 | c.116A>T (p.His39Leu) | COSMIC |
| X | g.120627051T>C | CA414210426 | C1GALT1C1 | c.116A>G (p.His39Arg) | |
| X | g.120627051T>G | CA414210428 | C1GALT1C1 | c.116A>C (p.His39Pro) | |
| X | g.120627052G>A | CA414210432 | C1GALT1C1 | c.115C>T (p.His39Tyr) | |
| X | g.120627052G>C | CA414210433 | C1GALT1C1 | c.115C>G (p.His39Asp) | gnomAD v4 |
| X | g.120627052G>T | CA414210436 | C1GALT1C1 | c.115C>A (p.His39Asn) | |
| X | g.120627053G>A | CA10505999 | C1GALT1C1 | c.114C>T (p.His38=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120627053G>C | CA414210442 | C1GALT1C1 | c.114C>G (p.His38Gln) | |
| X | g.120627053G= | CA2454930976 | C1GALT1C1 | c.114C= (p.His38=) | |
| X | g.120627053G>T | CA414210440 | C1GALT1C1 | c.114C>A (p.His38Gln) | |
| X | g.120627054T>A | CA414210445 | C1GALT1C1 | c.113A>T (p.His38Leu) | |
| X | g.120627054T>C | CA10506000 | C1GALT1C1 | c.113A>G (p.His38Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120627054T>G | CA414210449 | C1GALT1C1 | c.113A>C (p.His38Pro) | |
| X | g.120627054T= | CA2454930977 | C1GALT1C1 | c.113A= (p.His38=) | |
| X | g.120627055G>A | CA414210453 | C1GALT1C1 | c.112C>T (p.His38Tyr) | |
| X | g.120627055G>C | CA414210455 | C1GALT1C1 | c.112C>G (p.His38Asp) | |
| X | g.120627055G>T | CA414210457 | C1GALT1C1 | c.112C>A (p.His38Asn) | |
| X | g.120627056G>A | CA518448519 | C1GALT1C1 | c.111C>T (p.His37=) | gnomAD v4 COSMIC |
| X | g.120627056G>C | CA414210460 | C1GALT1C1 | c.111C>G (p.His37Gln) | |
| X | g.120627056G>T | CA414210462 | C1GALT1C1 | c.111C>A (p.His37Gln) | |
| X | g.120627057T>A | CA414210465 | C1GALT1C1 | c.110A>T (p.His37Leu) | |
| X | g.120627057T>C | CA414210467 | C1GALT1C1 | c.110A>G (p.His37Arg) | |
| X | g.120627057T>G | CA414210469 | C1GALT1C1 | c.110A>C (p.His37Pro) | |
| X | g.120627058G>A | CA414210471 | C1GALT1C1 | c.109C>T (p.His37Tyr) | |
| X | g.120627058G>C | CA414210474 | C1GALT1C1 | c.109C>G (p.His37Asp) | |
| X | g.120627058G>T | CA414210476 | C1GALT1C1 | c.109C>A (p.His37Asn) | |
| X | g.120627059C>A | CA414210480 | C1GALT1C1 | c.108G>T (p.Met36Ile) | |
| X | g.120627059C>G | CA414210482 | C1GALT1C1 | c.108G>C (p.Met36Ile) | |
| X | g.120627059C>T | CA414210478 | C1GALT1C1 | c.108G>A (p.Met36Ile) | |
| X | g.120627060A>C | CA414210486 | C1GALT1C1 | c.107T>G (p.Met36Arg) | |
| X | g.120627060A>G | CA414210488 | C1GALT1C1 | c.107T>C (p.Met36Thr) | |
| X | g.120627060A>T | CA414210490 | C1GALT1C1 | c.107T>A (p.Met36Lys) | |
| X | g.120627061T>A | CA414210493 | C1GALT1C1 | c.106A>T (p.Met36Leu) | |
| X | g.120627061T>C | CA414210495 | C1GALT1C1 | c.106A>G (p.Met36Val) | |
| X | g.120627061T>G | CA414210497 | C1GALT1C1 | c.106A>C (p.Met36Leu) | |
| X | g.120627062T>A | CA414210500 | C1GALT1C1 | c.105A>T (p.Arg35Ser) | |
| X | g.120627062T>C | CA518448524 | C1GALT1C1 | c.105A>G (p.Arg35=) | |
| X | g.120627062T>G | CA334145088 | C1GALT1C1 | c.105A>C (p.Arg35Ser) | dbSNP gnomAD v4 |
| X | g.120627062T= | CA2454930978 | C1GALT1C1 | c.105A= (p.Arg35=) | |
| X | g.120627063C>A | CA414210505 | C1GALT1C1 | c.104G>T (p.Arg35Ile) | |
| X | g.120627063C>G | CA414210507 | C1GALT1C1 | c.104G>C (p.Arg35Thr) | |
| X | g.120627063C>T | CA414210509 | C1GALT1C1 | c.104G>A (p.Arg35Lys) | |
| X | g.120627064T>A | CA414210512 | C1GALT1C1 | c.103A>T (p.Arg35Ter) | |
| X | g.120627064T>C | CA414210514 | C1GALT1C1 | c.103A>G (p.Arg35Gly) | |
| X | g.120627064T>G | CA518448526 | C1GALT1C1 | c.103A>C (p.Arg35=) | |
| X | g.120627065A= | CA2454930979 | C1GALT1C1 | c.102T= (p.Asn34=) | |
| X | g.120627065A>C | CA414210520 | C1GALT1C1 | c.102T>G (p.Asn34Lys) | |
| X | g.120627065A>G | CA518448527 | C1GALT1C1 | c.102T>C (p.Asn34=) | dbSNP gnomAD v4 |
| X | g.120627065A>T | CA414210518 | C1GALT1C1 | c.102T>A (p.Asn34Lys) | |
| X | g.120627066T>A | CA414210523 | C1GALT1C1 | c.101A>T (p.Asn34Ile) | |
| X | g.120627066T>C | CA414210525 | C1GALT1C1 | c.101A>G (p.Asn34Ser) | |
| X | g.120627066T>G | CA414210528 | C1GALT1C1 | c.101A>C (p.Asn34Thr) | |
| X | g.120627067T>A | CA414210531 | C1GALT1C1 | c.100A>T (p.Asn34Tyr) | |
| X | g.120627067T>C | CA414210533 | C1GALT1C1 | c.100A>G (p.Asn34Asp) | |
| X | g.120627067T>G | CA414210535 | C1GALT1C1 | c.100A>C (p.Asn34His) | |
| X | g.120627068T>A | CA518448529 | C1GALT1C1 | c.99A>T (p.Gly33=) | |
| X | g.120627068T>C | CA518448531 | C1GALT1C1 | c.99A>G (p.Gly33=) | |
| X | g.120627068T>G | CA518448530 | C1GALT1C1 | c.99A>C (p.Gly33=) | |
| X | g.120627069C>A | CA414210538 | C1GALT1C1 | c.98G>T (p.Gly33Val) | COSMIC |
| X | g.120627069C>G | CA414210540 | C1GALT1C1 | c.98G>C (p.Gly33Ala) | |
| X | g.120627069C>T | CA414210542 | C1GALT1C1 | c.98G>A (p.Gly33Glu) | |
| X | g.120627070C>A | CA414210545 | C1GALT1C1 | c.97G>T (p.Gly33Ter) | |
| X | g.120627070C>G | CA414210547 | C1GALT1C1 | c.97G>C (p.Gly33Arg) | |
| X | g.120627070C>T | CA414210548 | C1GALT1C1 | c.97G>A (p.Gly33Arg) | gnomAD v4 |
| X | g.120627071A= | CA2454930980 | C1GALT1C1 | c.96T= (p.His32=) | |
| X | g.120627071A>C | CA414210551 | C1GALT1C1 | c.96T>G (p.His32Gln) | |
| X | g.120627071A>G | CA10506001 | C1GALT1C1 | c.96T>C (p.His32=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120627071A>T | CA414210553 | C1GALT1C1 | c.96T>A (p.His32Gln) | |
| X | g.120627072T>A | CA414210556 | C1GALT1C1 | c.95A>T (p.His32Leu) | dbSNP gnomAD v4 |
| X | g.120627072T>C | CA10506002 | C1GALT1C1 | c.95A>G (p.His32Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120627072T>G | CA414210558 | C1GALT1C1 | c.95A>C (p.His32Pro) | |
| X | g.120627072T= | CA2454930981 | C1GALT1C1 | c.95A= (p.His32=) | |
| X | g.120627073G>A | CA414210562 | C1GALT1C1 | c.94C>T (p.His32Tyr) | |
| X | g.120627073G>C | CA414210565 | C1GALT1C1 | c.94C>G (p.His32Asp) | |
| X | g.120627073G>T | CA414210568 | C1GALT1C1 | c.94C>A (p.His32Asn) | gnomAD v4 |
| X | g.120627074A>C | CA518448533 | C1GALT1C1 | c.93T>G (p.Gly31=) | |
| X | g.120627074A>G | CA518448534 | C1GALT1C1 | c.93T>C (p.Gly31=) | |
| X | g.120627074A>T | CA518448535 | C1GALT1C1 | c.93T>A (p.Gly31=) | |
| X | g.120627075C>A | CA414210570 | C1GALT1C1 | c.92G>T (p.Gly31Val) | |
| X | g.120627075C>G | CA414210571 | C1GALT1C1 | c.92G>C (p.Gly31Ala) | |
| X | g.120627075C>T | CA414210574 | C1GALT1C1 | c.92G>A (p.Gly31Asp) | |
| X | g.120627076C>A | CA414210577 | C1GALT1C1 | c.91G>T (p.Gly31Cys) | |
| X | g.120627076C>G | CA414210579 | C1GALT1C1 | c.91G>C (p.Gly31Arg) | |
| X | g.120627076C>T | CA414210581 | C1GALT1C1 | c.91G>A (p.Gly31Ser) | |
| X | g.120627077A= | CA2454930982 | C1GALT1C1 | c.90T= (p.Ile30=) | |
| X | g.120627077A>C | CA414210584 | C1GALT1C1 | c.90T>G (p.Ile30Met) | |
| X | g.120627077A>G | CA518448539 | C1GALT1C1 | c.90T>C (p.Ile30=) | dbSNP |
| X | g.120627077A>T | CA518448540 | C1GALT1C1 | c.90T>A (p.Ile30=) | |
| X | g.120627078A>C | CA414210591 | C1GALT1C1 | c.89T>G (p.Ile30Ser) | |
| X | g.120627078A>G | CA414210589 | C1GALT1C1 | c.89T>C (p.Ile30Thr) | |
| X | g.120627078A>T | CA414210587 | C1GALT1C1 | c.89T>A (p.Ile30Asn) | |
| X | g.120627079T>A | CA414210594 | C1GALT1C1 | c.88A>T (p.Ile30Phe) | |
| X | g.120627079T>C | CA414210596 | C1GALT1C1 | c.88A>G (p.Ile30Val) | |
| X | g.120627079T>G | CA414210598 | C1GALT1C1 | c.88A>C (p.Ile30Leu) | |
| X | g.120627080C>A | CA414210602 | C1GALT1C1 | c.87G>T (p.Arg29Ser) | |
| X | g.120627080C>G | CA414210604 | C1GALT1C1 | c.87G>C (p.Arg29Ser) | |
| X | g.120627080C>T | CA518448543 | C1GALT1C1 | c.87G>A (p.Arg29=) | gnomAD v4 |
| X | g.120627081C>A | CA10506003 | C1GALT1C1 | c.86G>T (p.Arg29Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120627081C= | CA2454930984 | C1GALT1C1 | c.86G= (p.Arg29=) | |
| X | g.120627081C>G | CA414210607 | C1GALT1C1 | c.86G>C (p.Arg29Thr) | gnomAD v4 |
| X | g.120627081C>T | CA414210609 | C1GALT1C1 | c.86G>A (p.Arg29Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.120627082T>A | CA414210612 | C1GALT1C1 | c.85A>T (p.Arg29Trp) | |
| X | g.120627082T>C | CA414210614 | C1GALT1C1 | c.85A>G (p.Arg29Gly) | gnomAD v4 COSMIC |
| X | g.120627082T>G | CA518448545 | C1GALT1C1 | c.85A>C (p.Arg29=) | |
| X | g.120627083A>C | CA414210616 | C1GALT1C1 | c.84T>G (p.Ile28Met) | |
| X | g.120627083A>G | CA518448548 | C1GALT1C1 | c.84T>C (p.Ile28=) | |
| X | g.120627083A>T | CA518448546 | C1GALT1C1 | c.84T>A (p.Ile28=) | |
| X | g.120627084A>C | CA414210622 | C1GALT1C1 | c.83T>G (p.Ile28Ser) | |
| X | g.120627084A>G | CA414210625 | C1GALT1C1 | c.83T>C (p.Ile28Thr) | |
| X | g.120627084A>T | CA414210620 | C1GALT1C1 | c.83T>A (p.Ile28Asn) | |
| X | g.120627085T>A | CA414210627 | C1GALT1C1 | c.82A>T (p.Ile28Phe) | |
| X | g.120627085T>C | CA414210630 | C1GALT1C1 | c.82A>G (p.Ile28Val) | dbSNP |
| X | g.120627085T>G | CA414210632 | C1GALT1C1 | c.82A>C (p.Ile28Leu) | |
| X | g.120627085T= | CA2454930987 | C1GALT1C1 | c.82A= (p.Ile28=) | |
| X | g.120627086G>A | CA518448550 | C1GALT1C1 | c.81C>T (p.His27=) | |
| X | g.120627086G>C | CA414210635 | C1GALT1C1 | c.81C>G (p.His27Gln) | |
| X | g.120627086G>T | CA414210636 | C1GALT1C1 | c.81C>A (p.His27Gln) | |
| X | g.120627087T>A | CA414210644 | C1GALT1C1 | c.80A>T (p.His27Leu) | |
| X | g.120627087T>C | CA414210642 | C1GALT1C1 | c.80A>G (p.His27Arg) | |
| X | g.120627087T>G | CA414210640 | C1GALT1C1 | c.80A>C (p.His27Pro) | |
| X | g.120627088G>A | CA414210647 | C1GALT1C1 | c.79C>T (p.His27Tyr) | gnomAD v3 gnomAD v4 |
| X | g.120627088G>C | CA414210649 | C1GALT1C1 | c.79C>G (p.His27Asp) | |
| X | g.120627088G>T | CA414210651 | C1GALT1C1 | c.79C>A (p.His27Asn) | |
| X | g.120627089T>A | CA518448553 | C1GALT1C1 | c.78A>T (p.Gly26=) | |
| X | g.120627089T>C | CA518448554 | C1GALT1C1 | c.78A>G (p.Gly26=) | |
| X | g.120627089T>G | CA518448555 | C1GALT1C1 | c.78A>C (p.Gly26=) | |
| X | g.120627090C>A | CA414210655 | C1GALT1C1 | c.77G>T (p.Gly26Val) | |
| X | g.120627090C>G | CA414210657 | C1GALT1C1 | c.77G>C (p.Gly26Ala) | |
| X | g.120627090C>T | CA414210659 | C1GALT1C1 | c.77G>A (p.Gly26Glu) | |
| X | g.120627091C>A | CA414210662 | C1GALT1C1 | c.76G>T (p.Gly26Ter) | |
| X | g.120627091C>G | CA414210666 | C1GALT1C1 | c.76G>C (p.Gly26Arg) | |
| X | g.120627091C>T | CA414210665 | C1GALT1C1 | c.76G>A (p.Gly26Arg) | |
| X | g.120627092T>A | CA518448556 | C1GALT1C1 | c.75A>T (p.Leu25=) | |
| X | g.120627092T>C | CA518448557 | C1GALT1C1 | c.75A>G (p.Leu25=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120627092T>G | CA518448562 | C1GALT1C1 | c.75A>C (p.Leu25=) | |
| X | g.120627092T= | CA2454930990 | C1GALT1C1 | c.75A= (p.Leu25=) | |
| X | g.120627093A>C | CA414210670 | C1GALT1C1 | c.74T>G (p.Leu25Arg) | |
| X | g.120627093A>G | CA414210671 | C1GALT1C1 | c.74T>C (p.Leu25Pro) | |
| X | g.120627093A>T | CA414210673 | C1GALT1C1 | c.74T>A (p.Leu25Gln) | |
| X | g.120627094G>A | CA518448564 | C1GALT1C1 | c.73C>T (p.Leu25=) | dbSNP |
| X | g.120627094G>C | CA414210676 | C1GALT1C1 | c.73C>G (p.Leu25Val) | |
| X | g.120627094G= | CA2454930992 | C1GALT1C1 | c.73C= (p.Leu25=) | |
| X | g.120627094G>T | CA414210678 | C1GALT1C1 | c.73C>A (p.Leu25Ile) | |
| X | g.120627095C>A | CA414210681 | C1GALT1C1 | c.72G>T (p.Met24Ile) | |
| X | g.120627095C>G | CA414210683 | C1GALT1C1 | c.72G>C (p.Met24Ile) | |
| X | g.120627095C>T | CA414210685 | C1GALT1C1 | c.72G>A (p.Met24Ile) | |
| X | g.120627096A>C | CA414210688 | C1GALT1C1 | c.71T>G (p.Met24Arg) | |
| X | g.120627096A>G | CA414210690 | C1GALT1C1 | c.71T>C (p.Met24Thr) | gnomAD v4 |
| X | g.120627096A>T | CA414210692 | C1GALT1C1 | c.71T>A (p.Met24Lys) | |
| X | g.120627097T>A | CA414210699 | C1GALT1C1 | c.70A>T (p.Met24Leu) | |
| X | g.120627097T>C | CA10506004 | C1GALT1C1 | c.70A>G (p.Met24Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120627097T>G | CA414210695 | C1GALT1C1 | c.70A>C (p.Met24Leu) | |
| X | g.120627097T= | CA2454930995 | C1GALT1C1 | c.70A= (p.Met24=) | |
| X | g.120627098A>C | CA518448568 | C1GALT1C1 | c.69T>G (p.Thr23=) | |
| X | g.120627098A>G | CA518448569 | C1GALT1C1 | c.69T>C (p.Thr23=) | |
| X | g.120627098A>T | CA518448571 | C1GALT1C1 | c.69T>A (p.Thr23=) | |
| X | g.120627099G>A | CA414210701 | C1GALT1C1 | c.68C>T (p.Thr23Ile) | |
| X | g.120627099G>C | CA414210705 | C1GALT1C1 | c.68C>G (p.Thr23Ser) | |
| X | g.120627099G>T | CA414210703 | C1GALT1C1 | c.68C>A (p.Thr23Asn) | gnomAD v4 |
| X | g.120627100T>A | CA414210707 | C1GALT1C1 | c.67A>T (p.Thr23Ser) | |
| X | g.120627100T>C | CA414210709 | C1GALT1C1 | c.67A>G (p.Thr23Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120627100T>G | CA414210711 | C1GALT1C1 | c.67A>C (p.Thr23Pro) | |
| X | g.120627100T= | CA2454930999 | C1GALT1C1 | c.67A= (p.Thr23=) | |
| X | g.120627101G>A | CA518448573 | C1GALT1C1 | c.66C>T (p.Ile22=) | |
| X | g.120627101G>C | CA414210713 | C1GALT1C1 | c.66C>G (p.Ile22Met) | |
| X | g.120627101G>T | CA518448575 | C1GALT1C1 | c.66C>A (p.Ile22=) | |
| X | g.120627102A= | CA2454931001 | C1GALT1C1 | c.65T= (p.Ile22=) | |
| X | g.120627102A>C | CA414210717 | C1GALT1C1 | c.65T>G (p.Ile22Ser) | |
| X | g.120627102A>G | CA414210719 | C1GALT1C1 | c.65T>C (p.Ile22Thr) | |
| X | g.120627102A>T | CA10506005 | C1GALT1C1 | c.65T>A (p.Ile22Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120627103T>A | CA414210724 | C1GALT1C1 | c.64A>T (p.Ile22Phe) | |
| X | g.120627103T>C | CA414210726 | C1GALT1C1 | c.64A>G (p.Ile22Val) | COSMIC |
| X | g.120627103T>G | CA414210728 | C1GALT1C1 | c.64A>C (p.Ile22Leu) | |
| X | g.120627104C>A | CA414210730 | C1GALT1C1 | c.63G>T (p.Leu21Phe) | gnomAD v4 |
| X | g.120627104C>G | CA414210733 | C1GALT1C1 | c.63G>C (p.Leu21Phe) | |
| X | g.120627104C>T | CA518448578 | C1GALT1C1 | c.63G>A (p.Leu21=) | |
| X | g.120627105A>C | CA414210740 | C1GALT1C1 | c.62T>G (p.Leu21Trp) | |
| X | g.120627105A>G | CA414210735 | C1GALT1C1 | c.62T>C (p.Leu21Ser) | |
| X | g.120627105A>T | CA414210738 | C1GALT1C1 | c.62T>A (p.Leu21Ter) | |
| X | g.120627106A>C | CA414210743 | C1GALT1C1 | c.61T>G (p.Leu21Val) | |
| X | g.120627106A>G | CA518448582 | C1GALT1C1 | c.61T>C (p.Leu21=) | |
| X | g.120627106A>T | CA414210745 | C1GALT1C1 | c.61T>A (p.Leu21Met) | |
| X | g.120627107A>C | CA518448583 | C1GALT1C1 | c.60T>G (p.Ala20=) | |
| X | g.120627107A>G | CA518448584 | C1GALT1C1 | c.60T>C (p.Ala20=) | |
| X | g.120627107A>T | CA518448586 | C1GALT1C1 | c.60T>A (p.Ala20=) | |
| X | g.120627108G>A | CA414210748 | C1GALT1C1 | c.59C>T (p.Ala20Val) | gnomAD v4 |
| X | g.120627108G>C | CA414210749 | C1GALT1C1 | c.59C>G (p.Ala20Gly) | |
| X | g.120627108G>T | CA414210751 | C1GALT1C1 | c.59C>A (p.Ala20Asp) | ClinVar |
| X | g.120627109C>A | CA414210754 | C1GALT1C1 | c.58G>T (p.Ala20Ser) | |
| X | g.120627109C= | CA2454931003 | C1GALT1C1 | c.58G= (p.Ala20=) | |
| X | g.120627109C>G | CA414210757 | C1GALT1C1 | c.58G>C (p.Ala20Pro) | |
| X | g.120627109C>T | CA10506006 | C1GALT1C1 | c.58G>A (p.Ala20Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120627110A= | CA2454931005 | C1GALT1C1 | c.57T= (p.Cys19=) | |
| X | g.120627110A>C | CA414210761 | C1GALT1C1 | c.57T>G (p.Cys19Trp) | |
| X | g.120627110A>G | CA10506007 | C1GALT1C1 | c.57T>C (p.Cys19=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120627110A>T | CA414210764 | C1GALT1C1 | c.57T>A (p.Cys19Ter) | |
| X | g.120627111C>A | CA414210771 | C1GALT1C1 | c.56G>T (p.Cys19Phe) | gnomAD v4 |
| X | g.120627111C= | CA2454931007 | C1GALT1C1 | c.56G= (p.Cys19=) | |
| X | g.120627111C>G | CA414210769 | C1GALT1C1 | c.56G>C (p.Cys19Ser) | |
| X | g.120627111C>T | CA414210768 | C1GALT1C1 | c.56G>A (p.Cys19Tyr) | dbSNP |
| X | g.120627112A>C | CA414210779 | C1GALT1C1 | c.55T>G (p.Cys19Gly) | |
| X | g.120627112A>G | CA414210775 | C1GALT1C1 | c.55T>C (p.Cys19Arg) | gnomAD v4 |
| X | g.120627112A>T | CA414210777 | C1GALT1C1 | c.55T>A (p.Cys19Ser) | |
| X | g.120627113G>A | CA518448590 | C1GALT1C1 | c.54C>T (p.Phe18=) | |
| X | g.120627113G>C | CA414210782 | C1GALT1C1 | c.54C>G (p.Phe18Leu) | |
| X | g.120627113G>T | CA414210784 | C1GALT1C1 | c.54C>A (p.Phe18Leu) | gnomAD v4 |
| X | g.120627114A>C | CA414210785 | C1GALT1C1 | c.53T>G (p.Phe18Cys) | |
| X | g.120627114A>G | CA414210786 | C1GALT1C1 | c.53T>C (p.Phe18Ser) | |
| X | g.120627114A>T | CA414210788 | C1GALT1C1 | c.53T>A (p.Phe18Tyr) | |
| X | g.120627117del | CA2694604443 | C1GALT1C1 | c.53del (p.Phe18SerfsTer4) | gnomAD v4 |
| X | g.120627115A>C | CA414210792 | C1GALT1C1 | c.52T>G (p.Phe18Val) | |
| X | g.120627115A>G | CA414210796 | C1GALT1C1 | c.52T>C (p.Phe18Leu) | |
| X | g.120627115A>T | CA414210794 | C1GALT1C1 | c.52T>A (p.Phe18Ile) | |
| X | g.120627116A>C | CA414210798 | C1GALT1C1 | c.51T>G (p.Ile17Met) | |
| X | g.120627116A>G | CA518448594 | C1GALT1C1 | c.51T>C (p.Ile17=) | |
| X | g.120627116A>T | CA518448595 | C1GALT1C1 | c.51T>A (p.Ile17=) | |
| X | g.120627117A>C | CA414210801 | C1GALT1C1 | c.50T>G (p.Ile17Ser) | |
| X | g.120627117A>G | CA414210803 | C1GALT1C1 | c.50T>C (p.Ile17Thr) | |
| X | g.120627117A>T | CA414210805 | C1GALT1C1 | c.50T>A (p.Ile17Asn) | |
| X | g.120627118T>A | CA414210808 | C1GALT1C1 | c.49A>T (p.Ile17Phe) | |
| X | g.120627118T>C | CA10506008 | C1GALT1C1 | c.49A>G (p.Ile17Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.120627118T>G | CA414210810 | C1GALT1C1 | c.49A>C (p.Ile17Leu) | |
| X | g.120627118T= | CA2454931010 | C1GALT1C1 | c.49A= (p.Ile17=) | |
| X | g.120627119G>A | CA518448607 | C1GALT1C1 | c.48C>T (p.Ser16=) | dbSNP |
| X | g.120627119G>C | CA414210814 | C1GALT1C1 | c.48C>G (p.Ser16Arg) | |
| X | g.120627119G= | CA2454931012 | C1GALT1C1 | c.48C= (p.Ser16=) | |
| X | g.120627119G>T | CA414210816 | C1GALT1C1 | c.48C>A (p.Ser16Arg) | |
| X | g.120627120C>A | CA414210819 | C1GALT1C1 | c.47G>T (p.Ser16Ile) | gnomAD v4 |
| X | g.120627120C>G | CA414210821 | C1GALT1C1 | c.47G>C (p.Ser16Thr) | |
| X | g.120627120C>T | CA414210823 | C1GALT1C1 | c.47G>A (p.Ser16Asn) | gnomAD v4 |
| X | g.120627121T>A | CA414210826 | C1GALT1C1 | c.46A>T (p.Ser16Cys) | |
| X | g.120627121T>C | CA334145114 | C1GALT1C1 | c.46A>G (p.Ser16Gly) | dbSNP |
| X | g.120627121T>G | CA414210829 | C1GALT1C1 | c.46A>C (p.Ser16Arg) | |
| X | g.120627121T= | CA2454931013 | C1GALT1C1 | c.46A= (p.Ser16=) | |
| X | g.120627122T>A | CA518448615 | C1GALT1C1 | c.45A>T (p.Gly15=) | |
| X | g.120627122T>C | CA518448612 | C1GALT1C1 | c.45A>G (p.Gly15=) | |
| X | g.120627122T>G | CA518448614 | C1GALT1C1 | c.45A>C (p.Gly15=) | |
| X | g.120627123C>A | CA414210832 | C1GALT1C1 | c.44G>T (p.Gly15Val) | |
| X | g.120627123C>G | CA414210833 | C1GALT1C1 | c.44G>C (p.Gly15Ala) | |
| X | g.120627123C>T | CA414210834 | C1GALT1C1 | c.44G>A (p.Gly15Glu) | gnomAD v4 |
| X | g.120627124C>A | CA414210838 | C1GALT1C1 | c.43G>T (p.Gly15Ter) | gnomAD v4 COSMIC |
| X | g.120627124C>G | CA414210841 | C1GALT1C1 | c.43G>C (p.Gly15Arg) | |
| X | g.120627124C>T | CA414210837 | C1GALT1C1 | c.43G>A (p.Gly15Arg) | |
| X | g.120627125A>C | CA518448622 | C1GALT1C1 | c.42T>G (p.Leu14=) | |
| X | g.120627125A>G | CA518448623 | C1GALT1C1 | c.42T>C (p.Leu14=) | |
| X | g.120627125A>T | CA518448620 | C1GALT1C1 | c.42T>A (p.Leu14=) | |
| X | g.120627126A>C | CA414210843 | C1GALT1C1 | c.41T>G (p.Leu14Arg) | |
| X | g.120627126A>G | CA414210846 | C1GALT1C1 | c.41T>C (p.Leu14Pro) | |
| X | g.120627126A>T | CA414210848 | C1GALT1C1 | c.41T>A (p.Leu14His) | |
| X | g.120627127G>A | CA414210850 | C1GALT1C1 | c.40C>T (p.Leu14Phe) | |
| X | g.120627127G>C | CA414210852 | C1GALT1C1 | c.40C>G (p.Leu14Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120627127G= | CA2454931014 | C1GALT1C1 | c.40C= (p.Leu14=) | |
| X | g.120627127G>T | CA414210855 | C1GALT1C1 | c.40C>A (p.Leu14Ile) | gnomAD v4 |
| X | g.120627128C>A | CA414210861 | C1GALT1C1 | c.39G>T (p.Met13Ile) | |
| X | g.120627128C>G | CA414210859 | C1GALT1C1 | c.39G>C (p.Met13Ile) | |
| X | g.120627128C>T | CA414210857 | C1GALT1C1 | c.39G>A (p.Met13Ile) | |
| X | g.120627129A= | CA2454931015 | C1GALT1C1 | c.38T= (p.Met13=) | |
| X | g.120627129A>C | CA414210864 | C1GALT1C1 | c.38T>G (p.Met13Arg) | |
| X | g.120627129A>G | CA334145117 | C1GALT1C1 | c.38T>C (p.Met13Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120627129A>T | CA414210867 | C1GALT1C1 | c.38T>A (p.Met13Lys) | |
| X | g.120627130T>A | CA414210870 | C1GALT1C1 | c.37A>T (p.Met13Leu) | |
| X | g.120627130T>C | CA414210872 | C1GALT1C1 | c.37A>G (p.Met13Val) | |
| X | g.120627130T>G | CA414210874 | C1GALT1C1 | c.37A>C (p.Met13Leu) | |
| X | g.120627131C>A | CA518448630 | C1GALT1C1 | c.36G>T (p.Val12=) | |
| X | g.120627131C>G | CA518448628 | C1GALT1C1 | c.36G>C (p.Val12=) | |
| X | g.120627131C>T | CA518448629 | C1GALT1C1 | c.36G>A (p.Val12=) |