Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.120626479C>A | CA414207538 | C1GALT1C1 | c.688G>T (p.Ala230Ser) | |
X | g.120626479C>G | CA414207541 | C1GALT1C1 | c.688G>C (p.Ala230Pro) | |
X | g.120626479C>T | CA414207543 | C1GALT1C1 | c.688G>A (p.Ala230Thr) | |
X | g.120626480A= | CA2454930952 | C1GALT1C1 | c.687T= (p.Tyr229=) | |
X | g.120626480A>C | CA414207546 | C1GALT1C1 | c.687T>G (p.Tyr229Ter) | |
X | g.120626480A>G | CA10505940 | C1GALT1C1 | c.687T>C (p.Tyr229=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120626480A>T | CA414207548 | C1GALT1C1 | c.687T>A (p.Tyr229Ter) | |
X | g.120626481T>A | CA414207553 | C1GALT1C1 | c.686A>T (p.Tyr229Phe) | |
X | g.120626481T>C | CA414207556 | C1GALT1C1 | c.686A>G (p.Tyr229Cys) | |
X | g.120626481T>G | CA414207558 | C1GALT1C1 | c.686A>C (p.Tyr229Ser) | |
X | g.120626482A= | CA2454930953 | C1GALT1C1 | c.685T= (p.Tyr229=) | |
X | g.120626482A>C | CA414207562 | C1GALT1C1 | c.685T>G (p.Tyr229Asp) | |
X | g.120626482A>G | CA414207565 | C1GALT1C1 | c.685T>C (p.Tyr229His) | dbSNP |
X | g.120626482A>T | CA414207568 | C1GALT1C1 | c.685T>A (p.Tyr229Asn) | |
X | g.120626483T>A | CA414207571 | C1GALT1C1 | c.684A>T (p.Lys228Asn) | |
X | g.120626483T>C | CA518448445 | C1GALT1C1 | c.684A>G (p.Lys228=) | gnomAD v4 |
X | g.120626483T>G | CA414207574 | C1GALT1C1 | c.684A>C (p.Lys228Asn) | |
X | g.120626484T>A | CA334144901 | C1GALT1C1 | c.683A>T (p.Lys228Ile) | dbSNP |
X | g.120626484T>C | CA414207579 | C1GALT1C1 | c.683A>G (p.Lys228Arg) | |
X | g.120626484T>G | CA414207582 | C1GALT1C1 | c.683A>C (p.Lys228Thr) | gnomAD v4 |
X | g.120626484T= | CA2454930955 | C1GALT1C1 | c.683A= (p.Lys228=) | |
X | g.120626485T>A | CA414207586 | C1GALT1C1 | c.682A>T (p.Lys228Ter) | |
X | g.120626485T>C | CA414207590 | C1GALT1C1 | c.682A>G (p.Lys228Glu) | |
X | g.120626485T>G | CA414207587 | C1GALT1C1 | c.682A>C (p.Lys228Gln) | |
X | g.120626486C>A | CA518448450 | C1GALT1C1 | c.681G>T (p.Leu227=) | |
X | g.120626486C>G | CA518448451 | C1GALT1C1 | c.681G>C (p.Leu227=) | |
X | g.120626486C>T | CA518448452 | C1GALT1C1 | c.681G>A (p.Leu227=) | |
X | g.120626487A>C | CA414207592 | C1GALT1C1 | c.680T>G (p.Leu227Arg) | |
X | g.120626487A>G | CA414207593 | C1GALT1C1 | c.680T>C (p.Leu227Pro) | |
X | g.120626487A>T | CA414207594 | C1GALT1C1 | c.680T>A (p.Leu227Gln) | |
X | g.120626488G>A | CA518448455 | C1GALT1C1 | c.679C>T (p.Leu227=) | COSMIC |
X | g.120626488G>C | CA414207595 | C1GALT1C1 | c.679C>G (p.Leu227Val) | |
X | g.120626488G>T | CA414207596 | C1GALT1C1 | c.679C>A (p.Leu227Met) | |
X | g.120626489G>A | CA10505941 | C1GALT1C1 | c.678C>T (p.Cys226=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120626489G>C | CA414207598 | C1GALT1C1 | c.678C>G (p.Cys226Trp) | |
X | g.120626489G= | CA2454930957 | C1GALT1C1 | c.678C= (p.Cys226=) | |
X | g.120626489G>T | CA414207603 | C1GALT1C1 | c.678C>A (p.Cys226Ter) | |
X | g.120626490C>A | CA414207606 | C1GALT1C1 | c.677G>T (p.Cys226Phe) | |
X | g.120626490C>G | CA414207609 | C1GALT1C1 | c.677G>C (p.Cys226Ser) | |
X | g.120626490C>T | CA414207611 | C1GALT1C1 | c.677G>A (p.Cys226Tyr) | |
X | g.120626491A>C | CA414207628 | C1GALT1C1 | c.676T>G (p.Cys226Gly) | |
X | g.120626491A>G | CA414207626 | C1GALT1C1 | c.676T>C (p.Cys226Arg) | |
X | g.120626491A>T | CA414207623 | C1GALT1C1 | c.676T>A (p.Cys226Ser) | |
X | g.120626492A>C | CA518448456 | C1GALT1C1 | c.675T>G (p.Val225=) | |
X | g.120626492A>G | CA518448457 | C1GALT1C1 | c.675T>C (p.Val225=) | |
X | g.120626492A>T | CA518448458 | C1GALT1C1 | c.675T>A (p.Val225=) | |
X | g.120626493A>C | CA414207631 | C1GALT1C1 | c.674T>G (p.Val225Gly) | |
X | g.120626493A>G | CA414207634 | C1GALT1C1 | c.674T>C (p.Val225Ala) | |
X | g.120626493A>T | CA414207635 | C1GALT1C1 | c.674T>A (p.Val225Asp) | |
X | g.120626494C>A | CA414207637 | C1GALT1C1 | c.673G>T (p.Val225Phe) | |
X | g.120626494C>G | CA414207641 | C1GALT1C1 | c.673G>C (p.Val225Leu) | |
X | g.120626494C>T | CA414207647 | C1GALT1C1 | c.673G>A (p.Val225Ile) | |
X | g.120626495T>A | CA518448463 | C1GALT1C1 | c.672A>T (p.Ala224=) | |
X | g.120626495T>C | CA518448464 | C1GALT1C1 | c.672A>G (p.Ala224=) | |
X | g.120626495T>G | CA518448465 | C1GALT1C1 | c.672A>C (p.Ala224=) | |
X | g.120626496G>A | CA414207648 | C1GALT1C1 | c.671C>T (p.Ala224Val) | |
X | g.120626496G>C | CA414207650 | C1GALT1C1 | c.671C>G (p.Ala224Gly) | |
X | g.120626496G>T | CA414207656 | C1GALT1C1 | c.671C>A (p.Ala224Glu) | |
X | g.120626497C>A | CA414207657 | C1GALT1C1 | c.670G>T (p.Ala224Ser) | |
X | g.120626497C>G | CA414207658 | C1GALT1C1 | c.670G>C (p.Ala224Pro) | |
X | g.120626497C>T | CA414207660 | C1GALT1C1 | c.670G>A (p.Ala224Thr) | |
X | g.120626498T>A | CA518448468 | C1GALT1C1 | c.669A>T (p.Leu223=) | |
X | g.120626498T>C | CA518448469 | C1GALT1C1 | c.669A>G (p.Leu223=) | dbSNP |
X | g.120626498T>G | CA518448470 | C1GALT1C1 | c.669A>C (p.Leu223=) | gnomAD v4 |
X | g.120626498T= | CA2454930960 | C1GALT1C1 | c.669A= (p.Leu223=) | |
X | g.120626499A>C | CA414207664 | C1GALT1C1 | c.668T>G (p.Leu223Arg) | |
X | g.120626499A>G | CA414207665 | C1GALT1C1 | c.668T>C (p.Leu223Pro) | |
X | g.120626499A>T | CA414207662 | C1GALT1C1 | c.668T>A (p.Leu223Gln) | |
X | g.120626500G>A | CA518448472 | C1GALT1C1 | c.667C>T (p.Leu223=) | |
X | g.120626500G>C | CA414207669 | C1GALT1C1 | c.667C>G (p.Leu223Val) | |
X | g.120626500G>T | CA414207668 | C1GALT1C1 | c.667C>A (p.Leu223Ile) | |
X | g.120626501C>A | CA414207670 | C1GALT1C1 | c.666G>T (p.Gln222His) | |
X | g.120626501C= | CA2454930961 | C1GALT1C1 | c.666G= (p.Gln222=) | |
X | g.120626501C>G | CA10505942 | C1GALT1C1 | c.666G>C (p.Gln222His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626501C>T | CA518448474 | C1GALT1C1 | c.666G>A (p.Gln222=) | |
X | g.120626502T>A | CA414207673 | C1GALT1C1 | c.665A>T (p.Gln222Leu) | |
X | g.120626502T>C | CA414207674 | C1GALT1C1 | c.665A>G (p.Gln222Arg) | dbSNP gnomAD v4 |
X | g.120626502T>G | CA414207676 | C1GALT1C1 | c.665A>C (p.Gln222Pro) | |
X | g.120626502T= | CA2454930962 | C1GALT1C1 | c.665A= (p.Gln222=) | |
X | g.120626503G>A | CA414207682 | C1GALT1C1 | c.664C>T (p.Gln222Ter) | |
X | g.120626503G>C | CA414207678 | C1GALT1C1 | c.664C>G (p.Gln222Glu) | |
X | g.120626503G>T | CA414207680 | C1GALT1C1 | c.664C>A (p.Gln222Lys) | |
X | g.120626504T>A | CA414207683 | C1GALT1C1 | c.663A>T (p.Lys221Asn) | |
X | g.120626504T>C | CA518448478 | C1GALT1C1 | c.663A>G (p.Lys221=) | |
X | g.120626504T>G | CA414207686 | C1GALT1C1 | c.663A>C (p.Lys221Asn) | |
X | g.120626505T>A | CA414207691 | C1GALT1C1 | c.662A>T (p.Lys221Ile) | |
X | g.120626505T>C | CA10505943 | C1GALT1C1 | c.662A>G (p.Lys221Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120626505T>G | CA414207700 | C1GALT1C1 | c.662A>C (p.Lys221Thr) | |
X | g.120626505T= | CA2454930965 | C1GALT1C1 | c.662A= (p.Lys221=) | |
X | g.120626506T>A | CA414207704 | C1GALT1C1 | c.661A>T (p.Lys221Ter) | |
X | g.120626506T>C | CA414207708 | C1GALT1C1 | c.661A>G (p.Lys221Glu) | |
X | g.120626506T>G | CA414207705 | C1GALT1C1 | c.661A>C (p.Lys221Gln) | |
X | g.120626507A>C | CA414207710 | C1GALT1C1 | c.660T>G (p.Asp220Glu) | |
X | g.120626507A>G | CA518448482 | C1GALT1C1 | c.660T>C (p.Asp220=) | |
X | g.120626507A>T | CA414207711 | C1GALT1C1 | c.660T>A (p.Asp220Glu) | |
X | g.120626508T>A | CA414207713 | C1GALT1C1 | c.659A>T (p.Asp220Val) | |
X | g.120626508T>C | CA414207715 | C1GALT1C1 | c.659A>G (p.Asp220Gly) | |
X | g.120626508T>G | CA414207717 | C1GALT1C1 | c.659A>C (p.Asp220Ala) | |
X | g.120626509C>A | CA414207718 | C1GALT1C1 | c.658G>T (p.Asp220Tyr) | |
X | g.120626509C>G | CA414207719 | C1GALT1C1 | c.658G>C (p.Asp220His) | |
X | g.120626509C>T | CA414207721 | C1GALT1C1 | c.658G>A (p.Asp220Asn) | |
X | g.120626510T>A | CA414207723 | C1GALT1C1 | c.657A>T (p.Glu219Asp) | |
X | g.120626510T>C | CA10505944 | C1GALT1C1 | c.657A>G (p.Glu219=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626510T>G | CA414207726 | C1GALT1C1 | c.657A>C (p.Glu219Asp) | |
X | g.120626510T= | CA2454930968 | C1GALT1C1 | c.657A= (p.Glu219=) | |
X | g.120626511T>A | CA414207731 | C1GALT1C1 | c.656A>T (p.Glu219Val) | |
X | g.120626511T>C | CA414207729 | C1GALT1C1 | c.656A>G (p.Glu219Gly) | |
X | g.120626511T>G | CA414207728 | C1GALT1C1 | c.656A>C (p.Glu219Ala) | |
X | g.120626512C>A | CA414207734 | C1GALT1C1 | c.655G>T (p.Glu219Ter) | |
X | g.120626512C>G | CA414207736 | C1GALT1C1 | c.655G>C (p.Glu219Gln) | |
X | g.120626512C>T | CA414207737 | C1GALT1C1 | c.655G>A (p.Glu219Lys) | |
X | g.120626513A>C | CA518448490 | C1GALT1C1 | c.654T>G (p.Ser218=) | |
X | g.120626513A>G | CA518448488 | C1GALT1C1 | c.654T>C (p.Ser218=) | |
X | g.120626513A>T | CA518448489 | C1GALT1C1 | c.654T>A (p.Ser218=) | |
X | g.120626514G>A | CA414207740 | C1GALT1C1 | c.653C>T (p.Ser218Phe) | |
X | g.120626514G>C | CA414207742 | C1GALT1C1 | c.653C>G (p.Ser218Cys) | |
X | g.120626514G>T | CA414207743 | C1GALT1C1 | c.653C>A (p.Ser218Tyr) | |
X | g.120626515A>C | CA414207746 | C1GALT1C1 | c.652T>G (p.Ser218Ala) | gnomAD v4 |
X | g.120626515A>G | CA414207748 | C1GALT1C1 | c.652T>C (p.Ser218Pro) | gnomAD v4 |
X | g.120626515A>T | CA414207749 | C1GALT1C1 | c.652T>A (p.Ser218Thr) | |
X | g.120626516T>A | CA518448493 | C1GALT1C1 | c.651A>T (p.Ile217=) | |
X | g.120626516T>C | CA414207752 | C1GALT1C1 | c.651A>G (p.Ile217Met) | |
X | g.120626516T>G | CA518448494 | C1GALT1C1 | c.651A>C (p.Ile217=) | |
X | g.120626517A= | CA2454930970 | C1GALT1C1 | c.650T= (p.Ile217=) | |
X | g.120626517A>C | CA414207754 | C1GALT1C1 | c.650T>G (p.Ile217Arg) | |
X | g.120626517A>G | CA414207756 | C1GALT1C1 | c.650T>C (p.Ile217Thr) | |
X | g.120626517A>T | CA334144915 | C1GALT1C1 | c.650T>A (p.Ile217Lys) | dbSNP gnomAD v2 gnomAD v4 |
X | g.120626518T>A | CA414207760 | C1GALT1C1 | c.649A>T (p.Ile217Leu) | |
X | g.120626518T>C | CA414207761 | C1GALT1C1 | c.649A>G (p.Ile217Val) | gnomAD v4 |
X | g.120626518T>G | CA414207759 | C1GALT1C1 | c.649A>C (p.Ile217Leu) | |
X | g.120626519C>A | CA414207762 | C1GALT1C1 | c.648G>T (p.Lys216Asn) | COSMIC |
X | g.120626519C>G | CA414207763 | C1GALT1C1 | c.648G>C (p.Lys216Asn) | |
X | g.120626519C>T | CA518448498 | C1GALT1C1 | c.648G>A (p.Lys216=) | |
X | g.120626520T>A | CA414207765 | C1GALT1C1 | c.647A>T (p.Lys216Met) | |
X | g.120626520T>C | CA414207767 | C1GALT1C1 | c.647A>G (p.Lys216Arg) | |
X | g.120626520T>G | CA414207769 | C1GALT1C1 | c.647A>C (p.Lys216Thr) | dbSNP gnomAD v4 |
X | g.120626520T= | CA2454930983 | C1GALT1C1 | c.647A= (p.Lys216=) | |
X | g.120626521T>A | CA414207774 | C1GALT1C1 | c.646A>T (p.Lys216Ter) | |
X | g.120626521T>C | CA414207771 | C1GALT1C1 | c.646A>G (p.Lys216Glu) | |
X | g.120626521T>G | CA414207773 | C1GALT1C1 | c.646A>C (p.Lys216Gln) | |
X | g.120626522C>A | CA414207777 | C1GALT1C1 | c.645G>T (p.Trp215Cys) | |
X | g.120626522C>G | CA414207779 | C1GALT1C1 | c.645G>C (p.Trp215Cys) | |
X | g.120626522C>T | CA414207780 | C1GALT1C1 | c.645G>A (p.Trp215Ter) | |
X | g.120626523C>A | CA414207781 | C1GALT1C1 | c.644G>T (p.Trp215Leu) | |
X | g.120626523C>G | CA414207782 | C1GALT1C1 | c.644G>C (p.Trp215Ser) | |
X | g.120626523C>T | CA414207784 | C1GALT1C1 | c.644G>A (p.Trp215Ter) | |
X | g.120626524A>C | CA414207787 | C1GALT1C1 | c.643T>G (p.Trp215Gly) | |
X | g.120626524A>G | CA414207789 | C1GALT1C1 | c.643T>C (p.Trp215Arg) | |
X | g.120626524A>T | CA414207786 | C1GALT1C1 | c.643T>A (p.Trp215Arg) | |
X | g.120626525A>C | CA414207791 | C1GALT1C1 | c.642T>G (p.Ile214Met) | |
X | g.120626525A>G | CA518448504 | C1GALT1C1 | c.642T>C (p.Ile214=) | |
X | g.120626525A>T | CA518448506 | C1GALT1C1 | c.642T>A (p.Ile214=) | |
X | g.120626526A>C | CA414207795 | C1GALT1C1 | c.641T>G (p.Ile214Ser) | |
X | g.120626526A>G | CA414207799 | C1GALT1C1 | c.641T>C (p.Ile214Thr) | |
X | g.120626526A>T | CA414207797 | C1GALT1C1 | c.641T>A (p.Ile214Asn) | |
X | g.120626527T>A | CA414207801 | C1GALT1C1 | c.640A>T (p.Ile214Phe) | |
X | g.120626527T>C | CA414207805 | C1GALT1C1 | c.640A>G (p.Ile214Val) | gnomAD v4 |
X | g.120626527T>G | CA414207803 | C1GALT1C1 | c.640A>C (p.Ile214Leu) | |
X | g.120626528C>A | CA414207807 | C1GALT1C1 | c.639G>T (p.Met213Ile) | |
X | g.120626528C>G | CA414207809 | C1GALT1C1 | c.639G>C (p.Met213Ile) | |
X | g.120626528C>T | CA414207811 | C1GALT1C1 | c.639G>A (p.Met213Ile) | |
X | g.120626529A>C | CA414207813 | C1GALT1C1 | c.638T>G (p.Met213Arg) | |
X | g.120626529A>G | CA414207815 | C1GALT1C1 | c.638T>C (p.Met213Thr) | |
X | g.120626529A>T | CA414207817 | C1GALT1C1 | c.638T>A (p.Met213Lys) | |
X | g.120626530T>A | CA414207820 | C1GALT1C1 | c.637A>T (p.Met213Leu) | |
X | g.120626530T>C | CA414207822 | C1GALT1C1 | c.637A>G (p.Met213Val) | |
X | g.120626530T>G | CA414207824 | C1GALT1C1 | c.637A>C (p.Met213Leu) | |
X | g.120626531C>A | CA518448511 | C1GALT1C1 | c.636G>T (p.Gly212=) | |
X | g.120626531C= | CA2454930985 | C1GALT1C1 | c.636G= (p.Gly212=) | |
X | g.120626531C>G | CA518448510 | C1GALT1C1 | c.636G>C (p.Gly212=) | |
X | g.120626531C>T | CA10505945 | C1GALT1C1 | c.636G>A (p.Gly212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.120626532C>A | CA414207831 | C1GALT1C1 | c.635G>T (p.Gly212Val) | |
X | g.120626532C>G | CA414207829 | C1GALT1C1 | c.635G>C (p.Gly212Ala) | |
X | g.120626532C>T | CA414207828 | C1GALT1C1 | c.635G>A (p.Gly212Glu) | |
X | g.120626533C>A | CA414207833 | C1GALT1C1 | c.634G>T (p.Gly212Trp) | COSMIC |
X | g.120626533C>G | CA414207835 | C1GALT1C1 | c.634G>C (p.Gly212Arg) | |
X | g.120626533C>T | CA414207837 | C1GALT1C1 | c.634G>A (p.Gly212Arg) | |
X | g.120626534T>A | CA518448514 | C1GALT1C1 | c.633A>T (p.Gly211=) | |
X | g.120626534T>C | CA518448515 | C1GALT1C1 | c.633A>G (p.Gly211=) | |
X | g.120626534T>G | CA518448516 | C1GALT1C1 | c.633A>C (p.Gly211=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626534T= | CA2454930986 | C1GALT1C1 | c.633A= (p.Gly211=) | |
X | g.120626535C>A | CA414207839 | C1GALT1C1 | c.632G>T (p.Gly211Val) | |
X | g.120626535C= | CA2454930988 | C1GALT1C1 | c.632G= (p.Gly211=) | |
X | g.120626535C>G | CA414207841 | C1GALT1C1 | c.632G>C (p.Gly211Ala) | |
X | g.120626535C>T | CA414207842 | C1GALT1C1 | c.632G>A (p.Gly211Glu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.120626536C>A | CA414207846 | C1GALT1C1 | c.631G>T (p.Gly211Ter) | |
X | g.120626536C= | CA2454930989 | C1GALT1C1 | c.631G= (p.Gly211=) | |
X | g.120626536C>G | CA414207848 | C1GALT1C1 | c.631G>C (p.Gly211Arg) | |
X | g.120626536C>T | CA414207850 | C1GALT1C1 | c.631G>A (p.Gly211Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626537C>A | CA414207852 | C1GALT1C1 | c.630G>T (p.Gln210His) | gnomAD v4 |
X | g.120626537C>G | CA414207854 | C1GALT1C1 | c.630G>C (p.Gln210His) | |
X | g.120626537C>T | CA518448518 | C1GALT1C1 | c.630G>A (p.Gln210=) | |
X | g.120626538T>A | CA414207859 | C1GALT1C1 | c.629A>T (p.Gln210Leu) | |
X | g.120626538T>C | CA414207860 | C1GALT1C1 | c.629A>G (p.Gln210Arg) | |
X | g.120626538T>G | CA414207856 | C1GALT1C1 | c.629A>C (p.Gln210Pro) | |
X | g.120626539G>A | CA414207865 | C1GALT1C1 | c.628C>T (p.Gln210Ter) | |
X | g.120626539G>C | CA414207866 | C1GALT1C1 | c.628C>G (p.Gln210Glu) | |
X | g.120626539G>T | CA414207867 | C1GALT1C1 | c.628C>A (p.Gln210Lys) | |
X | g.120626540T>A | CA414207868 | C1GALT1C1 | c.627A>T (p.Glu209Asp) | |
X | g.120626540T>C | CA518448520 | C1GALT1C1 | c.627A>G (p.Glu209=) | |
X | g.120626540T>G | CA414207870 | C1GALT1C1 | c.627A>C (p.Glu209Asp) | |
X | g.120626541T>A | CA414207875 | C1GALT1C1 | c.626A>T (p.Glu209Val) | |
X | g.120626541T>C | CA414207874 | C1GALT1C1 | c.626A>G (p.Glu209Gly) | COSMIC |
X | g.120626541T>G | CA414207872 | C1GALT1C1 | c.626A>C (p.Glu209Ala) | |
X | g.120626542C>A | CA414207877 | C1GALT1C1 | c.625G>T (p.Glu209Ter) | |
X | g.120626542C>G | CA414207879 | C1GALT1C1 | c.625G>C (p.Glu209Gln) | |
X | g.120626542C>T | CA414207881 | C1GALT1C1 | c.625G>A (p.Glu209Lys) | |
X | g.120626543A= | CA2454930991 | C1GALT1C1 | c.624T= (p.Pro208=) | |
X | g.120626543A>C | CA518448521 | C1GALT1C1 | c.624T>G (p.Pro208=) | |
X | g.120626543A>G | CA518448522 | C1GALT1C1 | c.624T>C (p.Pro208=) | dbSNP |
X | g.120626543A>T | CA518448523 | C1GALT1C1 | c.624T>A (p.Pro208=) | |
X | g.120626544G>A | CA414207884 | C1GALT1C1 | c.623C>T (p.Pro208Leu) | |
X | g.120626544G>C | CA414207886 | C1GALT1C1 | c.623C>G (p.Pro208Arg) | |
X | g.120626544G>T | CA414207888 | C1GALT1C1 | c.623C>A (p.Pro208His) | |
X | g.120626545G>A | CA414207892 | C1GALT1C1 | c.622C>T (p.Pro208Ser) | |
X | g.120626545G>C | CA414207896 | C1GALT1C1 | c.622C>G (p.Pro208Ala) | |
X | g.120626545G>T | CA414207894 | C1GALT1C1 | c.622C>A (p.Pro208Thr) | |
X | g.120626546A>C | CA414207898 | C1GALT1C1 | c.621T>G (p.Cys207Trp) | |
X | g.120626546A>G | CA518448525 | C1GALT1C1 | c.621T>C (p.Cys207=) | |
X | g.120626546A>T | CA414207900 | C1GALT1C1 | c.621T>A (p.Cys207Ter) | |
X | g.120626547C>A | CA414207903 | C1GALT1C1 | c.620G>T (p.Cys207Phe) | |
X | g.120626547C>G | CA414207904 | C1GALT1C1 | c.620G>C (p.Cys207Ser) | |
X | g.120626547C>T | CA414207907 | C1GALT1C1 | c.620G>A (p.Cys207Tyr) | |
X | g.120626548A>C | CA414207910 | C1GALT1C1 | c.619T>G (p.Cys207Gly) | |
X | g.120626548A>G | CA414207911 | C1GALT1C1 | c.619T>C (p.Cys207Arg) | |
X | g.120626548A>T | CA414207913 | C1GALT1C1 | c.619T>A (p.Cys207Ser) | |
X | g.120626549C>A | CA414207915 | C1GALT1C1 | c.618G>T (p.Lys206Asn) | |
X | g.120626549C= | CA2454930993 | C1GALT1C1 | c.618G= (p.Lys206=) | |
X | g.120626549C>G | CA414207916 | C1GALT1C1 | c.618G>C (p.Lys206Asn) | |
X | g.120626549C>T | CA10505946 | C1GALT1C1 | c.618G>A (p.Lys206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120626550T>A | CA414207924 | C1GALT1C1 | c.617A>T (p.Lys206Met) | |
X | g.120626550T>C | CA414207922 | C1GALT1C1 | c.617A>G (p.Lys206Arg) | |
X | g.120626550T>G | CA414207920 | C1GALT1C1 | c.617A>C (p.Lys206Thr) | |
X | g.120626551T>A | CA414207926 | C1GALT1C1 | c.616A>T (p.Lys206Ter) | |
X | g.120626551T>C | CA414207930 | C1GALT1C1 | c.616A>G (p.Lys206Glu) | gnomAD v4 |
X | g.120626551T>G | CA414207928 | C1GALT1C1 | c.616A>C (p.Lys206Gln) | |
X | g.120626552T>A | CA414207932 | C1GALT1C1 | c.615A>T (p.Glu205Asp) | |
X | g.120626552T>C | CA518448532 | C1GALT1C1 | c.615A>G (p.Glu205=) | gnomAD v4 |
X | g.120626552T>G | CA414207934 | C1GALT1C1 | c.615A>C (p.Glu205Asp) | |
X | g.120626553T>A | CA414207936 | C1GALT1C1 | c.614A>T (p.Glu205Val) | |
X | g.120626553T>C | CA414207938 | C1GALT1C1 | c.614A>G (p.Glu205Gly) | |
X | g.120626553T>G | CA414207939 | C1GALT1C1 | c.614A>C (p.Glu205Ala) | |
X | g.120626554C>A | CA414207940 | C1GALT1C1 | c.613G>T (p.Glu205Ter) | |
X | g.120626554C>G | CA414207941 | C1GALT1C1 | c.613G>C (p.Glu205Gln) | |
X | g.120626554C>T | CA414207942 | C1GALT1C1 | c.613G>A (p.Glu205Lys) | |
X | g.120626555T>A | CA518448538 | C1GALT1C1 | c.612A>T (p.Pro204=) | |
X | g.120626555T>C | CA518448536 | C1GALT1C1 | c.612A>G (p.Pro204=) | |
X | g.120626555T>G | CA518448537 | C1GALT1C1 | c.612A>C (p.Pro204=) | |
X | g.120626556G>A | CA414207943 | C1GALT1C1 | c.611C>T (p.Pro204Leu) | gnomAD v4 |
X | g.120626556G>C | CA414207944 | C1GALT1C1 | c.611C>G (p.Pro204Arg) | |
X | g.120626556G>T | CA414207945 | C1GALT1C1 | c.611C>A (p.Pro204Gln) | |
X | g.120626557G>A | CA414207949 | C1GALT1C1 | c.610C>T (p.Pro204Ser) | |
X | g.120626557G>C | CA414207947 | C1GALT1C1 | c.610C>G (p.Pro204Ala) | |
X | g.120626557G>T | CA414207946 | C1GALT1C1 | c.610C>A (p.Pro204Thr) | |
X | g.120626558G>A | CA518448541 | C1GALT1C1 | c.609C>T (p.Ile203=) | |
X | g.120626558G>C | CA414207950 | C1GALT1C1 | c.609C>G (p.Ile203Met) | |
X | g.120626558G>T | CA518448542 | C1GALT1C1 | c.609C>A (p.Ile203=) | |
X | g.120626559A>C | CA414207952 | C1GALT1C1 | c.608T>G (p.Ile203Ser) | |
X | g.120626559A>G | CA414207953 | C1GALT1C1 | c.608T>C (p.Ile203Thr) | |
X | g.120626559A>T | CA414207955 | C1GALT1C1 | c.608T>A (p.Ile203Asn) | |
X | g.120626560T>A | CA414207958 | C1GALT1C1 | c.607A>T (p.Ile203Phe) | |
X | g.120626560T>C | CA10505947 | C1GALT1C1 | c.607A>G (p.Ile203Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626560T>G | CA414207964 | C1GALT1C1 | c.607A>C (p.Ile203Leu) | |
X | g.120626560T= | CA2454930994 | C1GALT1C1 | c.607A= (p.Ile203=) | |
X | g.120626561A= | CA2454930996 | C1GALT1C1 | c.606T= (p.Asn202=) | |
X | g.120626561A>C | CA414207966 | C1GALT1C1 | c.606T>G (p.Asn202Lys) | |
X | g.120626561A>G | CA518448547 | C1GALT1C1 | c.606T>C (p.Asn202=) | gnomAD v4 |
X | g.120626561A>T | CA10505948 | C1GALT1C1 | c.606T>A (p.Asn202Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626562T>A | CA414207969 | C1GALT1C1 | c.605A>T (p.Asn202Ile) | |
X | g.120626562T>C | CA10505949 | C1GALT1C1 | c.605A>G (p.Asn202Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626562T>G | CA414207973 | C1GALT1C1 | c.605A>C (p.Asn202Thr) | |
X | g.120626562T= | CA2454930997 | C1GALT1C1 | c.605A= (p.Asn202=) | |
X | g.120626563T>A | CA414207978 | C1GALT1C1 | c.604A>T (p.Asn202Tyr) | |
X | g.120626563T>C | CA414207977 | C1GALT1C1 | c.604A>G (p.Asn202Asp) | |
X | g.120626563T>G | CA414207975 | C1GALT1C1 | c.604A>C (p.Asn202His) | |
X | g.120626564G>A | CA518448549 | C1GALT1C1 | c.603C>T (p.Leu201=) | |
X | g.120626564G>C | CA518448551 | C1GALT1C1 | c.603C>G (p.Leu201=) | |
X | g.120626564G>T | CA518448552 | C1GALT1C1 | c.603C>A (p.Leu201=) | |
X | g.120626565A>C | CA414207980 | C1GALT1C1 | c.602T>G (p.Leu201Arg) | |
X | g.120626565A>G | CA414207982 | C1GALT1C1 | c.602T>C (p.Leu201Pro) | |
X | g.120626565A>T | CA414207984 | C1GALT1C1 | c.602T>A (p.Leu201His) | |
X | g.120626566G>A | CA414207985 | C1GALT1C1 | c.601C>T (p.Leu201Phe) | dbSNP gnomAD v2 gnomAD v4 |
X | g.120626566G>C | CA414207987 | C1GALT1C1 | c.601C>G (p.Leu201Val) | |
X | g.120626566G= | CA2454930998 | C1GALT1C1 | c.601C= (p.Leu201=) | |
X | g.120626566G>T | CA414207989 | C1GALT1C1 | c.601C>A (p.Leu201Ile) | |
X | g.120626567A>C | CA518448558 | C1GALT1C1 | c.600T>G (p.Leu200=) | |
X | g.120626567A>G | CA518448559 | C1GALT1C1 | c.600T>C (p.Leu200=) | |
X | g.120626567A>T | CA518448560 | C1GALT1C1 | c.600T>A (p.Leu200=) | |
X | g.120626568A>C | CA414207995 | C1GALT1C1 | c.599T>G (p.Leu200Arg) | |
X | g.120626568A>G | CA414207991 | C1GALT1C1 | c.599T>C (p.Leu200Pro) | |
X | g.120626568A>T | CA414207993 | C1GALT1C1 | c.599T>A (p.Leu200His) | |
X | g.120626569G>A | CA414207996 | C1GALT1C1 | c.598C>T (p.Leu200Phe) | |
X | g.120626569G>C | CA414207998 | C1GALT1C1 | c.598C>G (p.Leu200Val) | |
X | g.120626569G>T | CA414208000 | C1GALT1C1 | c.598C>A (p.Leu200Ile) | |
X | g.120626570G>A | CA518448561 | C1GALT1C1 | c.597C>T (p.Ser199=) | |
X | g.120626570G>C | CA10505950 | C1GALT1C1 | c.597C>G (p.Ser199Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626570G= | CA2454931000 | C1GALT1C1 | c.597C= (p.Ser199=) | |
X | g.120626570G>T | CA414208003 | C1GALT1C1 | c.597C>A (p.Ser199Arg) | |
X | g.120626571C>A | CA414208005 | C1GALT1C1 | c.596G>T (p.Ser199Ile) | |
X | g.120626571C>G | CA414208009 | C1GALT1C1 | c.596G>C (p.Ser199Thr) | |
X | g.120626571C>T | CA414208007 | C1GALT1C1 | c.596G>A (p.Ser199Asn) | |
X | g.120626572T>A | CA414208011 | C1GALT1C1 | c.595A>T (p.Ser199Cys) | |
X | g.120626572T>C | CA414208014 | C1GALT1C1 | c.595A>G (p.Ser199Gly) | gnomAD v4 |
X | g.120626572T>G | CA414208015 | C1GALT1C1 | c.595A>C (p.Ser199Arg) | |
X | g.120626573G>A | CA10505951 | C1GALT1C1 | c.594C>T (p.Asn198=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626573G>C | CA334144935 | C1GALT1C1 | c.594C>G (p.Asn198Lys) | dbSNP |
X | g.120626573G= | CA2454931002 | C1GALT1C1 | c.594C= (p.Asn198=) | |
X | g.120626573G>T | CA414208019 | C1GALT1C1 | c.594C>A (p.Asn198Lys) | |
X | g.120626574T>A | CA414208021 | C1GALT1C1 | c.593A>T (p.Asn198Ile) | |
X | g.120626574T>C | CA414208023 | C1GALT1C1 | c.593A>G (p.Asn198Ser) | COSMIC |
X | g.120626574T>G | CA414208025 | C1GALT1C1 | c.593A>C (p.Asn198Thr) | |
X | g.120626575_120626576insTTT | CA1136816999 | C1GALT1C1 | c.593_594insAAA (p.Leu197_Asn198insLys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.120626575T>A | CA414208027 | C1GALT1C1 | c.592A>T (p.Asn198Tyr) | |
X | g.120626575T>C | CA414208029 | C1GALT1C1 | c.592A>G (p.Asn198Asp) | |
X | g.120626575T>G | CA414208030 | C1GALT1C1 | c.592A>C (p.Asn198His) | |
X | g.120626576A= | CA2454931004 | C1GALT1C1 | c.591T= (p.Leu197=) | |
X | g.120626576A>C | CA518448565 | C1GALT1C1 | c.591T>G (p.Leu197=) | |
X | g.120626576A>G | CA10505952 | C1GALT1C1 | c.591T>C (p.Leu197=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120626576A>T | CA518448566 | C1GALT1C1 | c.591T>A (p.Leu197=) | |
X | g.120626577A= | CA2454931006 | C1GALT1C1 | c.590T= (p.Leu197=) | |
X | g.120626577A>C | CA414208035 | C1GALT1C1 | c.590T>G (p.Leu197Arg) | |
X | g.120626577A>G | CA414208033 | C1GALT1C1 | c.590T>C (p.Leu197Pro) | |
X | g.120626577A>T | CA414208036 | C1GALT1C1 | c.590T>A (p.Leu197His) | dbSNP |
X | g.120626578G>A | CA414208039 | C1GALT1C1 | c.589C>T (p.Leu197Phe) | |
X | g.120626578G>C | CA414208041 | C1GALT1C1 | c.589C>G (p.Leu197Val) | |
X | g.120626578G>T | CA414208043 | C1GALT1C1 | c.589C>A (p.Leu197Ile) | |
X | g.120626579T>A | CA414208045 | C1GALT1C1 | c.588A>T (p.Arg196Ser) | |
X | g.120626579T>C | CA518448574 | C1GALT1C1 | c.588A>G (p.Arg196=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.120626579T>G | CA414208047 | C1GALT1C1 | c.588A>C (p.Arg196Ser) | |
X | g.120626579T= | CA2454931008 | C1GALT1C1 | c.588A= (p.Arg196=) |