UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120626674G>A | CA414208479 | C1GALT1C1 | c.493C>T (p.Gln165Ter) | |
| X | g.120626674G>C | CA414208477 | C1GALT1C1 | c.493C>G (p.Gln165Glu) | |
| X | g.120626674G>T | CA414208475 | C1GALT1C1 | c.493C>A (p.Gln165Lys) | |
| X | g.120626675T>A | CA518448283 | C1GALT1C1 | c.492A>T (p.Ser164=) | |
| X | g.120626675T>C | CA518448284 | C1GALT1C1 | c.492A>G (p.Ser164=) | |
| X | g.120626675T>G | CA518448285 | C1GALT1C1 | c.492A>C (p.Ser164=) | |
| X | g.120626676G>A | CA414208481 | C1GALT1C1 | c.491C>T (p.Ser164Leu) | |
| X | g.120626676G>C | CA414208483 | C1GALT1C1 | c.491C>G (p.Ser164Ter) | |
| X | g.120626676G>T | CA414208485 | C1GALT1C1 | c.491C>A (p.Ser164Ter) | |
| X | g.120626677A>C | CA414208487 | C1GALT1C1 | c.490T>G (p.Ser164Ala) | |
| X | g.120626677A>G | CA414208489 | C1GALT1C1 | c.490T>C (p.Ser164Pro) | |
| X | g.120626677A>T | CA414208491 | C1GALT1C1 | c.490T>A (p.Ser164Thr) | |
| X | g.120626678T>A | CA518448289 | C1GALT1C1 | c.489A>T (p.Pro163=) | |
| X | g.120626678T>C | CA518448291 | C1GALT1C1 | c.489A>G (p.Pro163=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626678T>G | CA518448292 | C1GALT1C1 | c.489A>C (p.Pro163=) | |
| X | g.120626678T= | CA2454930817 | C1GALT1C1 | c.489A= (p.Pro163=) | |
| X | g.120626679G>A | CA414208497 | C1GALT1C1 | c.488C>T (p.Pro163Leu) | |
| X | g.120626679G>C | CA414208493 | C1GALT1C1 | c.488C>G (p.Pro163Arg) | |
| X | g.120626679G>T | CA414208495 | C1GALT1C1 | c.488C>A (p.Pro163Gln) | |
| X | g.120626680G>A | CA414208499 | C1GALT1C1 | c.487C>T (p.Pro163Ser) | |
| X | g.120626680G>C | CA414208501 | C1GALT1C1 | c.487C>G (p.Pro163Ala) | gnomAD v4 |
| X | g.120626680G>T | CA414208503 | C1GALT1C1 | c.487C>A (p.Pro163Thr) | |
| X | g.120626681A>C | CA414208506 | C1GALT1C1 | c.486T>G (p.Asp162Glu) | |
| X | g.120626681A>G | CA518448296 | C1GALT1C1 | c.486T>C (p.Asp162=) | |
| X | g.120626681A>T | CA414208508 | C1GALT1C1 | c.486T>A (p.Asp162Glu) | |
| X | g.120626682T>A | CA414208510 | C1GALT1C1 | c.485A>T (p.Asp162Val) | |
| X | g.120626682T>C | CA414208514 | C1GALT1C1 | c.485A>G (p.Asp162Gly) | |
| X | g.120626682T>G | CA414208512 | C1GALT1C1 | c.485A>C (p.Asp162Ala) | |
| X | g.120626683C>A | CA414208516 | C1GALT1C1 | c.484G>T (p.Asp162Tyr) | |
| X | g.120626683C>G | CA414208518 | C1GALT1C1 | c.484G>C (p.Asp162His) | |
| X | g.120626683C>T | CA414208520 | C1GALT1C1 | c.484G>A (p.Asp162Asn) | COSMIC |
| X | g.120626684C>A | CA414208522 | C1GALT1C1 | c.483G>T (p.Lys161Asn) | COSMIC |
| X | g.120626684C>G | CA414208524 | C1GALT1C1 | c.483G>C (p.Lys161Asn) | |
| X | g.120626684C>T | CA518448301 | C1GALT1C1 | c.483G>A (p.Lys161=) | |
| X | g.120626685T>A | CA414208526 | C1GALT1C1 | c.482A>T (p.Lys161Met) | |
| X | g.120626685T>C | CA414208528 | C1GALT1C1 | c.482A>G (p.Lys161Arg) | |
| X | g.120626685T>G | CA414208530 | C1GALT1C1 | c.482A>C (p.Lys161Thr) | |
| X | g.120626685_120626690del | CA2823267473 | C1GALT1C1 | c.477_482del (p.Lys160_Lys161del) | |
| X | g.120626690dup | CA645614909 | C1GALT1C1 | c.482dup (p.Asp162GlyfsTer18) | COSMIC |
| X | g.120626690del | CA645614908 | C1GALT1C1 | c.482del (p.Lys161ArgfsTer9) | dbSNP gnomAD v4 COSMIC |
| X | g.120626685_120626686insA | CA518448307 | C1GALT1C1 | c.481_482insT (p.Lys161IlefsTer19) | |
| X | g.120626686T>A | CA414208533 | C1GALT1C1 | c.481A>T (p.Lys161Ter) | dbSNP |
| X | g.120626686T>C | CA414208534 | C1GALT1C1 | c.481A>G (p.Lys161Glu) | |
| X | g.120626686T>G | CA414208536 | C1GALT1C1 | c.481A>C (p.Lys161Gln) | |
| X | g.120626687T>A | CA414208540 | C1GALT1C1 | c.480A>T (p.Lys160Asn) | |
| X | g.120626687T>C | CA518448309 | C1GALT1C1 | c.480A>G (p.Lys160=) | |
| X | g.120626687T>G | CA414208538 | C1GALT1C1 | c.480A>C (p.Lys160Asn) | gnomAD v4 |
| X | g.120626688T>A | CA414208543 | C1GALT1C1 | c.479A>T (p.Lys160Ile) | |
| X | g.120626688T>C | CA414208544 | C1GALT1C1 | c.479A>G (p.Lys160Arg) | |
| X | g.120626688T>G | CA414208546 | C1GALT1C1 | c.479A>C (p.Lys160Thr) | |
| X | g.120626689T>A | CA414208549 | C1GALT1C1 | c.478A>T (p.Lys160Ter) | |
| X | g.120626689T>C | CA414208550 | C1GALT1C1 | c.478A>G (p.Lys160Glu) | |
| X | g.120626689T>G | CA414208552 | C1GALT1C1 | c.478A>C (p.Lys160Gln) | |
| X | g.120626690T>A | CA414208555 | C1GALT1C1 | c.477A>T (p.Leu159Phe) | |
| X | g.120626690T>C | CA518448316 | C1GALT1C1 | c.477A>G (p.Leu159=) | gnomAD v4 |
| X | g.120626690T>G | CA414208556 | C1GALT1C1 | c.477A>C (p.Leu159Phe) | |
| X | g.120626691A>C | CA414208557 | C1GALT1C1 | c.476T>G (p.Leu159Ter) | |
| X | g.120626691A>G | CA414208560 | C1GALT1C1 | c.476T>C (p.Leu159Ser) | |
| X | g.120626691A>T | CA414208559 | C1GALT1C1 | c.476T>A (p.Leu159Ter) | |
| X | g.120626691_120626699del | CA2823267474 | C1GALT1C1 | c.468_476del (p.Tyr156Ter) | |
| X | g.120626692A= | CA2454930820 | C1GALT1C1 | c.475T= (p.Leu159=) | |
| X | g.120626692A>C | CA414208563 | C1GALT1C1 | c.475T>G (p.Leu159Val) | |
| X | g.120626692A>G | CA10505959 | C1GALT1C1 | c.475T>C (p.Leu159=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626692A>T | CA414208566 | C1GALT1C1 | c.475T>A (p.Leu159Ile) | |
| X | g.120626693C>A | CA414208569 | C1GALT1C1 | c.474G>T (p.Leu158Phe) | |
| X | g.120626693C>G | CA414208570 | C1GALT1C1 | c.474G>C (p.Leu158Phe) | |
| X | g.120626693C>T | CA518448321 | C1GALT1C1 | c.474G>A (p.Leu158=) | |
| X | g.120626694A>C | CA414208572 | C1GALT1C1 | c.473T>G (p.Leu158Trp) | |
| X | g.120626694A>G | CA414208576 | C1GALT1C1 | c.473T>C (p.Leu158Ser) | |
| X | g.120626694A>T | CA414208574 | C1GALT1C1 | c.473T>A (p.Leu158Ter) | |
| X | g.120626699del | CA2694604442 | C1GALT1C1 | c.473del (p.Leu158CysfsTer2) | gnomAD v4 |
| X | g.120626695A>C | CA414208578 | C1GALT1C1 | c.472T>G (p.Leu158Val) | |
| X | g.120626695A>G | CA518448324 | C1GALT1C1 | c.472T>C (p.Leu158=) | |
| X | g.120626695A>T | CA414208580 | C1GALT1C1 | c.472T>A (p.Leu158Met) | |
| X | g.120626696A>C | CA414208582 | C1GALT1C1 | c.471T>G (p.Phe157Leu) | |
| X | g.120626696A>G | CA518448325 | C1GALT1C1 | c.471T>C (p.Phe157=) | |
| X | g.120626696A>T | CA414208584 | C1GALT1C1 | c.471T>A (p.Phe157Leu) | |
| X | g.120626697A>C | CA414208586 | C1GALT1C1 | c.470T>G (p.Phe157Cys) | |
| X | g.120626697A>G | CA414208588 | C1GALT1C1 | c.470T>C (p.Phe157Ser) | |
| X | g.120626697A>T | CA414208590 | C1GALT1C1 | c.470T>A (p.Phe157Tyr) | |
| X | g.120626698A>C | CA414208593 | C1GALT1C1 | c.469T>G (p.Phe157Val) | COSMIC |
| X | g.120626698A>G | CA414208594 | C1GALT1C1 | c.469T>C (p.Phe157Leu) | |
| X | g.120626698A>T | CA414208596 | C1GALT1C1 | c.469T>A (p.Phe157Ile) | |
| X | g.120626699A= | CA2454930823 | C1GALT1C1 | c.468T= (p.Tyr156=) | |
| X | g.120626699A>C | CA414208598 | C1GALT1C1 | c.468T>G (p.Tyr156Ter) | |
| X | g.120626699A>G | CA518448329 | C1GALT1C1 | c.468T>C (p.Tyr156=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626699A>T | CA414208600 | C1GALT1C1 | c.468T>A (p.Tyr156Ter) | |
| X | g.120626700T>A | CA414208602 | C1GALT1C1 | c.467A>T (p.Tyr156Phe) | |
| X | g.120626700T>C | CA414208606 | C1GALT1C1 | c.467A>G (p.Tyr156Cys) | |
| X | g.120626700T>G | CA414208604 | C1GALT1C1 | c.467A>C (p.Tyr156Ser) | |
| X | g.120626700_120626701insTTTTTTTTT | CA2823267475 | C1GALT1C1 | c.467_468insAAAAAAAAA (p.Tyr156Ter) | |
| X | g.120626701A>C | CA414208609 | C1GALT1C1 | c.466T>G (p.Tyr156Asp) | |
| X | g.120626701A>G | CA414208610 | C1GALT1C1 | c.466T>C (p.Tyr156His) | |
| X | g.120626701A>T | CA414208612 | C1GALT1C1 | c.466T>A (p.Tyr156Asn) | |
| X | g.120626702C>A | CA414208614 | C1GALT1C1 | c.465G>T (p.Lys155Asn) | |
| X | g.120626702C>G | CA414208615 | C1GALT1C1 | c.465G>C (p.Lys155Asn) | |
| X | g.120626702C>T | CA518448337 | C1GALT1C1 | c.465G>A (p.Lys155=) | |
| X | g.120626703T>A | CA414208616 | C1GALT1C1 | c.464A>T (p.Lys155Met) | |
| X | g.120626703T>C | CA10505960 | C1GALT1C1 | c.464A>G (p.Lys155Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626703T>G | CA414208619 | C1GALT1C1 | c.464A>C (p.Lys155Thr) | |
| X | g.120626703T= | CA2454930825 | C1GALT1C1 | c.464A= (p.Lys155=) | |
| X | g.120626704T>A | CA414208621 | C1GALT1C1 | c.463A>T (p.Lys155Ter) | |
| X | g.120626704T>C | CA414208623 | C1GALT1C1 | c.463A>G (p.Lys155Glu) | |
| X | g.120626704T>G | CA414208625 | C1GALT1C1 | c.463A>C (p.Lys155Gln) | |
| X | g.120626705T>A | CA518448340 | C1GALT1C1 | c.462A>T (p.Leu154=) | |
| X | g.120626705T>C | CA10505961 | C1GALT1C1 | c.462A>G (p.Leu154=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626705T>G | CA518448344 | C1GALT1C1 | c.462A>C (p.Leu154=) | |
| X | g.120626705T= | CA2454930826 | C1GALT1C1 | c.462A= (p.Leu154=) | |
| X | g.120626706A>C | CA414208631 | C1GALT1C1 | c.461T>G (p.Leu154Arg) | |
| X | g.120626706A>G | CA414208630 | C1GALT1C1 | c.461T>C (p.Leu154Pro) | |
| X | g.120626706A>T | CA414208629 | C1GALT1C1 | c.461T>A (p.Leu154Gln) | |
| X | g.120626707G>A | CA518448347 | C1GALT1C1 | c.460C>T (p.Leu154=) | |
| X | g.120626707G>C | CA414208634 | C1GALT1C1 | c.460C>G (p.Leu154Val) | |
| X | g.120626707G>T | CA414208636 | C1GALT1C1 | c.460C>A (p.Leu154Ile) | |
| X | g.120626708G>A | CA518448350 | C1GALT1C1 | c.459C>T (p.Asn153=) | |
| X | g.120626708G>C | CA414208638 | C1GALT1C1 | c.459C>G (p.Asn153Lys) | |
| X | g.120626708G>T | CA414208640 | C1GALT1C1 | c.459C>A (p.Asn153Lys) | |
| X | g.120626709T>A | CA414208642 | C1GALT1C1 | c.458A>T (p.Asn153Ile) | |
| X | g.120626709T>C | CA414208644 | C1GALT1C1 | c.458A>G (p.Asn153Ser) | |
| X | g.120626709T>G | CA414208646 | C1GALT1C1 | c.458A>C (p.Asn153Thr) | |
| X | g.120626710T>A | CA414208648 | C1GALT1C1 | c.457A>T (p.Asn153Tyr) | |
| X | g.120626710T>C | CA414208650 | C1GALT1C1 | c.457A>G (p.Asn153Asp) | |
| X | g.120626710T>G | CA414208652 | C1GALT1C1 | c.457A>C (p.Asn153His) | |
| X | g.120626711T>A | CA414208653 | C1GALT1C1 | c.456A>T (p.Glu152Asp) | |
| X | g.120626711T>C | CA518448356 | C1GALT1C1 | c.456A>G (p.Glu152=) | |
| X | g.120626711T>G | CA414208656 | C1GALT1C1 | c.456A>C (p.Glu152Asp) | |
| X | g.120626712T>A | CA414208658 | C1GALT1C1 | c.455A>T (p.Glu152Val) | |
| X | g.120626712T>C | CA414208662 | C1GALT1C1 | c.455A>G (p.Glu152Gly) | |
| X | g.120626712T>G | CA414208660 | C1GALT1C1 | c.455A>C (p.Glu152Ala) | |
| X | g.120626713C>A | CA414208665 | C1GALT1C1 | c.454G>T (p.Glu152Ter) | |
| X | g.120626713C= | CA2454930830 | C1GALT1C1 | c.454G= (p.Glu152=) | |
| X | g.120626713C>G | CA414208667 | C1GALT1C1 | c.454G>C (p.Glu152Gln) | |
| X | g.120626713C>T | CA121175 | C1GALT1C1 | c.454G>A (p.Glu152Lys) | ClinVar dbSNP |
| X | g.120626714A>C | CA414208670 | C1GALT1C1 | c.453T>G (p.Ile151Met) | |
| X | g.120626714A>G | CA518448360 | C1GALT1C1 | c.453T>C (p.Ile151=) | |
| X | g.120626714A>T | CA518448359 | C1GALT1C1 | c.453T>A (p.Ile151=) | |
| X | g.120626715A>C | CA414208672 | C1GALT1C1 | c.452T>G (p.Ile151Ser) | |
| X | g.120626715A>G | CA414208674 | C1GALT1C1 | c.452T>C (p.Ile151Thr) | |
| X | g.120626715A>T | CA414208676 | C1GALT1C1 | c.452T>A (p.Ile151Asn) | |
| X | g.120626716T>A | CA414208678 | C1GALT1C1 | c.451A>T (p.Ile151Phe) | |
| X | g.120626716T>C | CA414208680 | C1GALT1C1 | c.451A>G (p.Ile151Val) | |
| X | g.120626716T>G | CA414208682 | C1GALT1C1 | c.451A>C (p.Ile151Leu) | |
| X | g.120626717G>A | CA518448367 | C1GALT1C1 | c.450C>T (p.Ile150=) | gnomAD v4 |
| X | g.120626717G>C | CA414208684 | C1GALT1C1 | c.450C>G (p.Ile150Met) | gnomAD v4 |
| X | g.120626717G>T | CA518448368 | C1GALT1C1 | c.450C>A (p.Ile150=) | |
| X | g.120626718A>C | CA414208686 | C1GALT1C1 | c.449T>G (p.Ile150Ser) | |
| X | g.120626718A>G | CA414208688 | C1GALT1C1 | c.449T>C (p.Ile150Thr) | |
| X | g.120626718A>T | CA414208690 | C1GALT1C1 | c.449T>A (p.Ile150Asn) | |
| X | g.120626719T>A | CA414208696 | C1GALT1C1 | c.448A>T (p.Ile150Phe) | |
| X | g.120626719T>C | CA10505962 | C1GALT1C1 | c.448A>G (p.Ile150Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626719T>G | CA414208692 | C1GALT1C1 | c.448A>C (p.Ile150Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626719T= | CA2454930835 | C1GALT1C1 | c.448A= (p.Ile150=) | |
| X | g.120626720A>C | CA518448373 | C1GALT1C1 | c.447T>G (p.Ala149=) | |
| X | g.120626720A>G | CA518448375 | C1GALT1C1 | c.447T>C (p.Ala149=) | |
| X | g.120626720A>T | CA518448376 | C1GALT1C1 | c.447T>A (p.Ala149=) | |
| X | g.120626721G>A | CA10505963 | C1GALT1C1 | c.446C>T (p.Ala149Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626721G>C | CA414208701 | C1GALT1C1 | c.446C>G (p.Ala149Gly) | |
| X | g.120626721G= | CA2454930838 | C1GALT1C1 | c.446C= (p.Ala149=) | |
| X | g.120626721G>T | CA414208703 | C1GALT1C1 | c.446C>A (p.Ala149Asp) | |
| X | g.120626722C>A | CA414208706 | C1GALT1C1 | c.445G>T (p.Ala149Ser) | dbSNP |
| X | g.120626722C= | CA2454930839 | C1GALT1C1 | c.445G= (p.Ala149=) | |
| X | g.120626722C>G | CA414208708 | C1GALT1C1 | c.445G>C (p.Ala149Pro) | |
| X | g.120626722C>T | CA414208711 | C1GALT1C1 | c.445G>A (p.Ala149Thr) | |
| X | g.120626723A>C | CA414208714 | C1GALT1C1 | c.444T>G (p.Phe148Leu) | |
| X | g.120626723A>G | CA518448381 | C1GALT1C1 | c.444T>C (p.Phe148=) | |
| X | g.120626723A>T | CA414208716 | C1GALT1C1 | c.444T>A (p.Phe148Leu) | |
| X | g.120626724A>C | CA414208718 | C1GALT1C1 | c.443T>G (p.Phe148Cys) | |
| X | g.120626724A>G | CA414208720 | C1GALT1C1 | c.443T>C (p.Phe148Ser) | |
| X | g.120626724A>T | CA414208722 | C1GALT1C1 | c.443T>A (p.Phe148Tyr) | |
| X | g.120626725A>C | CA414208728 | C1GALT1C1 | c.442T>G (p.Phe148Val) | |
| X | g.120626725A>G | CA414208726 | C1GALT1C1 | c.442T>C (p.Phe148Leu) | |
| X | g.120626725A>T | CA414208724 | C1GALT1C1 | c.442T>A (p.Phe148Ile) | |
| X | g.120626726C>A | CA518448385 | C1GALT1C1 | c.441G>T (p.Thr147=) | |
| X | g.120626726C= | CA2454930841 | C1GALT1C1 | c.441G= (p.Thr147=) | |
| X | g.120626726C>G | CA518448386 | C1GALT1C1 | c.441G>C (p.Thr147=) | |
| X | g.120626726C>T | CA10505964 | C1GALT1C1 | c.441G>A (p.Thr147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626727G>A | CA10505965 | C1GALT1C1 | c.440C>T (p.Thr147Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626727G>C | CA414208732 | C1GALT1C1 | c.440C>G (p.Thr147Arg) | |
| X | g.120626727G= | CA2454930842 | C1GALT1C1 | c.440C= (p.Thr147=) | |
| X | g.120626727G>T | CA414208734 | C1GALT1C1 | c.440C>A (p.Thr147Lys) | COSMIC |
| X | g.120626728T>A | CA414208736 | C1GALT1C1 | c.439A>T (p.Thr147Ser) | |
| X | g.120626728T>C | CA414208738 | C1GALT1C1 | c.439A>G (p.Thr147Ala) | |
| X | g.120626728T>G | CA414208740 | C1GALT1C1 | c.439A>C (p.Thr147Pro) | |
| X | g.120626729A>C | CA518448390 | C1GALT1C1 | c.438T>G (p.Thr146=) | |
| X | g.120626729A>G | CA518448391 | C1GALT1C1 | c.438T>C (p.Thr146=) | |
| X | g.120626729A>T | CA518448392 | C1GALT1C1 | c.438T>A (p.Thr146=) | |
| X | g.120626730G>A | CA414208743 | C1GALT1C1 | c.437C>T (p.Thr146Ile) | |
| X | g.120626730G>C | CA414208745 | C1GALT1C1 | c.437C>G (p.Thr146Ser) | |
| X | g.120626730G>T | CA414208747 | C1GALT1C1 | c.437C>A (p.Thr146Asn) | |
| X | g.120626731T>A | CA414208750 | C1GALT1C1 | c.436A>T (p.Thr146Ser) | |
| X | g.120626731T>C | CA414208752 | C1GALT1C1 | c.436A>G (p.Thr146Ala) | dbSNP gnomAD v2 |
| X | g.120626731T>G | CA414208754 | C1GALT1C1 | c.436A>C (p.Thr146Pro) | |
| X | g.120626731T= | CA2454930844 | C1GALT1C1 | c.436A= (p.Thr146=) | |
| X | g.120626732G>A | CA518448396 | C1GALT1C1 | c.435C>T (p.Pro145=) | |
| X | g.120626732G>C | CA518448398 | C1GALT1C1 | c.435C>G (p.Pro145=) | |
| X | g.120626732G>T | CA518448399 | C1GALT1C1 | c.435C>A (p.Pro145=) | |
| X | g.120626733G>A | CA414208760 | C1GALT1C1 | c.434C>T (p.Pro145Leu) | |
| X | g.120626733G>C | CA414208756 | C1GALT1C1 | c.434C>G (p.Pro145Arg) | |
| X | g.120626733G>T | CA414208758 | C1GALT1C1 | c.434C>A (p.Pro145His) | |
| X | g.120626734G>A | CA414208762 | C1GALT1C1 | c.433C>T (p.Pro145Ser) | |
| X | g.120626734G>C | CA414208763 | C1GALT1C1 | c.433C>G (p.Pro145Ala) | gnomAD v4 |
| X | g.120626734G>T | CA414208764 | C1GALT1C1 | c.433C>A (p.Pro145Thr) | |
| X | g.120626735G>A | CA518448404 | C1GALT1C1 | c.432C>T (p.Arg144=) | |
| X | g.120626735G>C | CA518448405 | C1GALT1C1 | c.432C>G (p.Arg144=) | |
| X | g.120626735G= | CA2454930845 | C1GALT1C1 | c.432C= (p.Arg144=) | |
| X | g.120626735G>T | CA518448406 | C1GALT1C1 | c.432C>A (p.Arg144=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626736C>A | CA10505967 | C1GALT1C1 | c.431G>T (p.Arg144Leu) | dbSNP ExAC gnomAD v4 |
| X | g.120626736C= | CA2454930847 | C1GALT1C1 | c.431G= (p.Arg144=) | |
| X | g.120626736C>G | CA414208767 | C1GALT1C1 | c.431G>C (p.Arg144Pro) | |
| X | g.120626736C>T | CA10505966 | C1GALT1C1 | c.431G>A (p.Arg144His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626737G>A | CA10505968 | C1GALT1C1 | c.430C>T (p.Arg144Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626737G>C | CA414208771 | C1GALT1C1 | c.430C>G (p.Arg144Gly) | |
| X | g.120626737G= | CA2454930849 | C1GALT1C1 | c.430C= (p.Arg144=) | |
| X | g.120626737G>T | CA414208773 | C1GALT1C1 | c.430C>A (p.Arg144Ser) | |
| X | g.120626738T>A | CA518448416 | C1GALT1C1 | c.429A>T (p.Ala143=) | |
| X | g.120626738T>C | CA518448413 | C1GALT1C1 | c.429A>G (p.Ala143=) | dbSNP gnomAD v4 COSMIC |
| X | g.120626738T>G | CA518448415 | C1GALT1C1 | c.429A>C (p.Ala143=) | |
| X | g.120626738T= | CA2454930851 | C1GALT1C1 | c.429A= (p.Ala143=) | |
| X | g.120626739G>A | CA10505969 | C1GALT1C1 | c.428C>T (p.Ala143Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626739G>C | CA414208776 | C1GALT1C1 | c.428C>G (p.Ala143Gly) | |
| X | g.120626739G= | CA2454930854 | C1GALT1C1 | c.428C= (p.Ala143=) | |
| X | g.120626739G>T | CA414208779 | C1GALT1C1 | c.428C>A (p.Ala143Glu) | |
| X | g.120626740C>A | CA414208783 | C1GALT1C1 | c.427G>T (p.Ala143Ser) | gnomAD v4 |
| X | g.120626740C>G | CA414208785 | C1GALT1C1 | c.427G>C (p.Ala143Pro) | |
| X | g.120626740C>T | CA414208781 | C1GALT1C1 | c.427G>A (p.Ala143Thr) | |
| X | g.120626741A>C | CA518448420 | C1GALT1C1 | c.426T>G (p.Leu142=) | |
| X | g.120626741A>G | CA518448421 | C1GALT1C1 | c.426T>C (p.Leu142=) | |
| X | g.120626741A>T | CA518448422 | C1GALT1C1 | c.426T>A (p.Leu142=) | |
| X | g.120626742A>C | CA414208789 | C1GALT1C1 | c.425T>G (p.Leu142Arg) | |
| X | g.120626742A>G | CA414208787 | C1GALT1C1 | c.425T>C (p.Leu142Pro) | |
| X | g.120626742A>T | CA414208790 | C1GALT1C1 | c.425T>A (p.Leu142His) | |
| X | g.120626743G>A | CA414208793 | C1GALT1C1 | c.424C>T (p.Leu142Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626743G>C | CA414208795 | C1GALT1C1 | c.424C>G (p.Leu142Val) | |
| X | g.120626743G= | CA2454930857 | C1GALT1C1 | c.424C= (p.Leu142=) | |
| X | g.120626743G>T | CA414208796 | C1GALT1C1 | c.424C>A (p.Leu142Ile) | |
| X | g.120626744G>A | CA518448427 | C1GALT1C1 | c.423C>T (p.Phe141=) | |
| X | g.120626744G>C | CA414208803 | C1GALT1C1 | c.423C>G (p.Phe141Leu) | |
| X | g.120626744G>T | CA414208807 | C1GALT1C1 | c.423C>A (p.Phe141Leu) | dbSNP |
| X | g.120626745A>C | CA414208809 | C1GALT1C1 | c.422T>G (p.Phe141Cys) | |
| X | g.120626745A>G | CA414208811 | C1GALT1C1 | c.422T>C (p.Phe141Ser) | |
| X | g.120626745A>T | CA414208813 | C1GALT1C1 | c.422T>A (p.Phe141Tyr) | |
| X | g.120626746A>C | CA414208816 | C1GALT1C1 | c.421T>G (p.Phe141Val) | |
| X | g.120626746A>G | CA414208817 | C1GALT1C1 | c.421T>C (p.Phe141Leu) | |
| X | g.120626746A>T | CA414208819 | C1GALT1C1 | c.421T>A (p.Phe141Ile) | |
| X | g.120626747G>A | CA518448433 | C1GALT1C1 | c.420C>T (p.Phe140=) | |
| X | g.120626747G>C | CA414208821 | C1GALT1C1 | c.420C>G (p.Phe140Leu) | |
| X | g.120626747G= | CA2454930859 | C1GALT1C1 | c.420C= (p.Phe140=) | |
| X | g.120626747G>T | CA414208823 | C1GALT1C1 | c.420C>A (p.Phe140Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626748A>C | CA414208831 | C1GALT1C1 | c.419T>G (p.Phe140Cys) | |
| X | g.120626748A>G | CA414208828 | C1GALT1C1 | c.419T>C (p.Phe140Ser) | |
| X | g.120626748A>T | CA414208826 | C1GALT1C1 | c.419T>A (p.Phe140Tyr) | |
| X | g.120626749A>C | CA414208833 | C1GALT1C1 | c.418T>G (p.Phe140Val) | |
| X | g.120626749A>G | CA414208835 | C1GALT1C1 | c.418T>C (p.Phe140Leu) | |
| X | g.120626749A>T | CA414208839 | C1GALT1C1 | c.418T>A (p.Phe140Ile) | |
| X | g.120626750C>A | CA10505970 | C1GALT1C1 | c.417G>T (p.Trp139Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626750C= | CA2454930861 | C1GALT1C1 | c.417G= (p.Trp139=) | |
| X | g.120626750C>G | CA414208843 | C1GALT1C1 | c.417G>C (p.Trp139Cys) | |
| X | g.120626750C>T | CA414208845 | C1GALT1C1 | c.417G>A (p.Trp139Ter) | |
| X | g.120626751C>A | CA414208847 | C1GALT1C1 | c.416G>T (p.Trp139Leu) | |
| X | g.120626751C>G | CA414208849 | C1GALT1C1 | c.416G>C (p.Trp139Ser) | |
| X | g.120626751C>T | CA414208851 | C1GALT1C1 | c.416G>A (p.Trp139Ter) | |
| X | g.120626752A>C | CA414208854 | C1GALT1C1 | c.415T>G (p.Trp139Gly) | COSMIC |
| X | g.120626752A>G | CA414208855 | C1GALT1C1 | c.415T>C (p.Trp139Arg) | |
| X | g.120626752A>T | CA414208857 | C1GALT1C1 | c.415T>A (p.Trp139Arg) | |
| X | g.120626753G>A | CA518448442 | C1GALT1C1 | c.414C>T (p.Asn138=) | |
| X | g.120626753G>C | CA414208859 | C1GALT1C1 | c.414C>G (p.Asn138Lys) | |
| X | g.120626753G>T | CA414208860 | C1GALT1C1 | c.414C>A (p.Asn138Lys) | |
| X | g.120626754T>A | CA414208862 | C1GALT1C1 | c.413A>T (p.Asn138Ile) | |
| X | g.120626754T>C | CA414208863 | C1GALT1C1 | c.413A>G (p.Asn138Ser) | |
| X | g.120626754T>G | CA414208861 | C1GALT1C1 | c.413A>C (p.Asn138Thr) | gnomAD v4 |
| X | g.120626755T>A | CA414208865 | C1GALT1C1 | c.412A>T (p.Asn138Tyr) | gnomAD v4 |
| X | g.120626755T>C | CA414208867 | C1GALT1C1 | c.412A>G (p.Asn138Asp) | |
| X | g.120626755T>G | CA414208868 | C1GALT1C1 | c.412A>C (p.Asn138His) | |
| X | g.120626756G>A | CA518448446 | C1GALT1C1 | c.411C>T (p.Tyr137=) | gnomAD v4 |
| X | g.120626756G>C | CA414208870 | C1GALT1C1 | c.411C>G (p.Tyr137Ter) | |
| X | g.120626756G>T | CA414208872 | C1GALT1C1 | c.411C>A (p.Tyr137Ter) | |
| X | g.120626757T>A | CA414208875 | C1GALT1C1 | c.410A>T (p.Tyr137Phe) | |
| X | g.120626757T>C | CA414208877 | C1GALT1C1 | c.410A>G (p.Tyr137Cys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626757T>G | CA414208879 | C1GALT1C1 | c.410A>C (p.Tyr137Ser) | |
| X | g.120626757T= | CA2454930863 | C1GALT1C1 | c.410A= (p.Tyr137=) | |
| X | g.120626758A>C | CA414208881 | C1GALT1C1 | c.409T>G (p.Tyr137Asp) | |
| X | g.120626758A>G | CA414208883 | C1GALT1C1 | c.409T>C (p.Tyr137His) | |
| X | g.120626758A>T | CA414208888 | C1GALT1C1 | c.409T>A (p.Tyr137Asn) | |
| X | g.120626759T>A | CA414208891 | C1GALT1C1 | c.408A>T (p.Gln136His) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626759T>C | CA518448454 | C1GALT1C1 | c.408A>G (p.Gln136=) | |
| X | g.120626759T>G | CA414208893 | C1GALT1C1 | c.408A>C (p.Gln136His) | |
| X | g.120626759T= | CA2454930865 | C1GALT1C1 | c.408A= (p.Gln136=) | |
| X | g.120626760T>A | CA414208896 | C1GALT1C1 | c.407A>T (p.Gln136Leu) | |
| X | g.120626760T>C | CA414208904 | C1GALT1C1 | c.407A>G (p.Gln136Arg) | |
| X | g.120626760T>G | CA414208902 | C1GALT1C1 | c.407A>C (p.Gln136Pro) | |
| X | g.120626761G>A | CA414208906 | C1GALT1C1 | c.406C>T (p.Gln136Ter) | |
| X | g.120626761G>C | CA414208908 | C1GALT1C1 | c.406C>G (p.Gln136Glu) | |
| X | g.120626761G>T | CA414208910 | C1GALT1C1 | c.406C>A (p.Gln136Lys) | |
| X | g.120626762G>A | CA518448459 | C1GALT1C1 | c.405C>T (p.Asp135=) | gnomAD v4 |
| X | g.120626762G>C | CA414208911 | C1GALT1C1 | c.405C>G (p.Asp135Glu) | gnomAD v4 |
| X | g.120626762G>T | CA414208913 | C1GALT1C1 | c.405C>A (p.Asp135Glu) | |
| X | g.120626763T>A | CA414208918 | C1GALT1C1 | c.404A>T (p.Asp135Val) | |
| X | g.120626763T>C | CA414208920 | C1GALT1C1 | c.404A>G (p.Asp135Gly) | |
| X | g.120626763T>G | CA414208923 | C1GALT1C1 | c.404A>C (p.Asp135Ala) | |
| X | g.120626764C>A | CA414208926 | C1GALT1C1 | c.403G>T (p.Asp135Tyr) | dbSNP gnomAD v4 |
| X | g.120626764C= | CA2454930867 | C1GALT1C1 | c.403G= (p.Asp135=) | |
| X | g.120626764C>G | CA414208927 | C1GALT1C1 | c.403G>C (p.Asp135His) | |
| X | g.120626764C>T | CA414208929 | C1GALT1C1 | c.403G>A (p.Asp135Asn) | |
| X | g.120626765T>A | CA414208931 | C1GALT1C1 | c.402A>T (p.Arg134Ser) | |
| X | g.120626765T>C | CA518448467 | C1GALT1C1 | c.402A>G (p.Arg134=) | |
| X | g.120626765T>G | CA414208933 | C1GALT1C1 | c.402A>C (p.Arg134Ser) | |
| X | g.120626766C>A | CA414208936 | C1GALT1C1 | c.401G>T (p.Arg134Ile) | |
| X | g.120626766C>G | CA414208939 | C1GALT1C1 | c.401G>C (p.Arg134Thr) | |
| X | g.120626766C>T | CA414208938 | C1GALT1C1 | c.401G>A (p.Arg134Lys) | |
| X | g.120626767T>A | CA414208940 | C1GALT1C1 | c.400A>T (p.Arg134Ter) | |
| X | g.120626767T>C | CA414208941 | C1GALT1C1 | c.400A>G (p.Arg134Gly) | |
| X | g.120626767T>G | CA518448563 | C1GALT1C1 | c.400A>C (p.Arg134=) | |
| X | g.120626768A= | CA2454930868 | C1GALT1C1 | c.399T= (p.Tyr133=) | |
| X | g.120626768A>C | CA414208942 | C1GALT1C1 | c.399T>G (p.Tyr133Ter) | |
| X | g.120626768A>G | CA334144991 | C1GALT1C1 | c.399T>C (p.Tyr133=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626768A>T | CA414208944 | C1GALT1C1 | c.399T>A (p.Tyr133Ter) | |
| X | g.120626769T>A | CA414208945 | C1GALT1C1 | c.398A>T (p.Tyr133Phe) | |
| X | g.120626769T>C | CA414208947 | C1GALT1C1 | c.398A>G (p.Tyr133Cys) | |
| X | g.120626769T>G | CA414208950 | C1GALT1C1 | c.398A>C (p.Tyr133Ser) | |
| X | g.120626770A>C | CA414208956 | C1GALT1C1 | c.397T>G (p.Tyr133Asp) | |
| X | g.120626770A>G | CA414208957 | C1GALT1C1 | c.397T>C (p.Tyr133His) | |
| X | g.120626770A>T | CA414208958 | C1GALT1C1 | c.397T>A (p.Tyr133Asn) | |
| X | g.120626771C>A | CA414208959 | C1GALT1C1 | c.396G>T (p.Lys132Asn) | |
| X | g.120626771C>G | CA414208960 | C1GALT1C1 | c.396G>C (p.Lys132Asn) | gnomAD v4 |
| X | g.120626771C>T | CA518448567 | C1GALT1C1 | c.396G>A (p.Lys132=) | |
| X | g.120626772T>A | CA414208963 | C1GALT1C1 | c.395A>T (p.Lys132Met) | |
| X | g.120626772T>C | CA414208967 | C1GALT1C1 | c.395A>G (p.Lys132Arg) | |
| X | g.120626772T>G | CA414208965 | C1GALT1C1 | c.395A>C (p.Lys132Thr) | |
| X | g.120626773T>A | CA414208969 | C1GALT1C1 | c.394A>T (p.Lys132Ter) | |
| X | g.120626773T>C | CA414208971 | C1GALT1C1 | c.394A>G (p.Lys132Glu) | |
| X | g.120626773T>G | CA414208972 | C1GALT1C1 | c.394A>C (p.Lys132Gln) | |
| X | g.120626774A= | CA2454930869 | C1GALT1C1 | c.393T= (p.Asp131=) | |
| X | g.120626774A>C | CA414208974 | C1GALT1C1 | c.393T>G (p.Asp131Glu) | |
| X | g.120626774A>G | CA518448572 | C1GALT1C1 | c.393T>C (p.Asp131=) | |
| X | g.120626774A>T | CA121173 | C1GALT1C1 | c.393T>A (p.Asp131Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |