Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
X | g.120627132A>C | CA414210877 | C1GALT1C1 | c.35T>G (p.Val12Gly) | |
X | g.120627132A>G | CA414210880 | C1GALT1C1 | c.35T>C (p.Val12Ala) | |
X | g.120627132A>T | CA414210879 | C1GALT1C1 | c.35T>A (p.Val12Glu) | |
X | g.120627133C>A | CA414210884 | C1GALT1C1 | c.34G>T (p.Val12Leu) | gnomAD v4 |
X | g.120627133C>G | CA414210885 | C1GALT1C1 | c.34G>C (p.Val12Leu) | |
X | g.120627133C>T | CA414210888 | C1GALT1C1 | c.34G>A (p.Val12Met) | |
X | g.120627134A>C | CA518448635 | C1GALT1C1 | c.33T>G (p.Gly11=) | |
X | g.120627134A>G | CA518448636 | C1GALT1C1 | c.33T>C (p.Gly11=) | |
X | g.120627134A>T | CA518448637 | C1GALT1C1 | c.33T>A (p.Gly11=) | |
X | g.120627135C>A | CA414210891 | C1GALT1C1 | c.32G>T (p.Gly11Val) | |
X | g.120627135C>G | CA414210893 | C1GALT1C1 | c.32G>C (p.Gly11Ala) | gnomAD v4 |
X | g.120627135C>T | CA414210895 | C1GALT1C1 | c.32G>A (p.Gly11Asp) | gnomAD v4 |
X | g.120627136C>A | CA414210898 | C1GALT1C1 | c.31G>T (p.Gly11Cys) | |
X | g.120627136C= | CA2454931016 | C1GALT1C1 | c.31G= (p.Gly11=) | |
X | g.120627136C>G | CA414210900 | C1GALT1C1 | c.31G>C (p.Gly11Arg) | |
X | g.120627136C>T | CA414210901 | C1GALT1C1 | c.31G>A (p.Gly11Ser) | dbSNP |
X | g.120627137C>A | CA414210903 | C1GALT1C1 | c.30G>T (p.Lys10Asn) | gnomAD v4 |
X | g.120627137C>G | CA414210906 | C1GALT1C1 | c.30G>C (p.Lys10Asn) | |
X | g.120627137C>T | CA518448641 | C1GALT1C1 | c.30G>A (p.Lys10=) | |
X | g.120627138T>A | CA414210909 | C1GALT1C1 | c.29A>T (p.Lys10Met) | |
X | g.120627138T>C | CA414210912 | C1GALT1C1 | c.29A>G (p.Lys10Arg) | gnomAD v4 |
X | g.120627138T>G | CA414210910 | C1GALT1C1 | c.29A>C (p.Lys10Thr) | |
X | g.120627139T>A | CA414210915 | C1GALT1C1 | c.28A>T (p.Lys10Ter) | |
X | g.120627139T>C | CA414210917 | C1GALT1C1 | c.28A>G (p.Lys10Glu) | gnomAD v4 |
X | g.120627139T>G | CA414210919 | C1GALT1C1 | c.28A>C (p.Lys10Gln) | |
X | g.120627140C>A | CA414210921 | C1GALT1C1 | c.27G>T (p.Leu9Phe) | gnomAD v4 |
X | g.120627140C>G | CA414210923 | C1GALT1C1 | c.27G>C (p.Leu9Phe) | |
X | g.120627140C>T | CA518448646 | C1GALT1C1 | c.27G>A (p.Leu9=) | |
X | g.120627141A>C | CA414210925 | C1GALT1C1 | c.26T>G (p.Leu9Trp) | |
X | g.120627141A>G | CA414210927 | C1GALT1C1 | c.26T>C (p.Leu9Ser) | |
X | g.120627141A>T | CA414210930 | C1GALT1C1 | c.26T>A (p.Leu9Ter) | |
X | g.120627145del | CA2694604444 | C1GALT1C1 | c.26del (p.Leu9Ter) | gnomAD v4 |
X | g.120627142A>C | CA414210932 | C1GALT1C1 | c.25T>G (p.Leu9Val) | |
X | g.120627142A>G | CA518448649 | C1GALT1C1 | c.25T>C (p.Leu9=) | |
X | g.120627142A>T | CA414210934 | C1GALT1C1 | c.25T>A (p.Leu9Met) | |
X | g.120627143A>C | CA414210937 | C1GALT1C1 | c.24T>G (p.Phe8Leu) | |
X | g.120627143A>G | CA518448652 | C1GALT1C1 | c.24T>C (p.Phe8=) | |
X | g.120627143A>T | CA414210939 | C1GALT1C1 | c.24T>A (p.Phe8Leu) | |
X | g.120627144A>C | CA414210945 | C1GALT1C1 | c.23T>G (p.Phe8Cys) | |
X | g.120627144A>G | CA414210942 | C1GALT1C1 | c.23T>C (p.Phe8Ser) | |
X | g.120627144A>T | CA414210943 | C1GALT1C1 | c.23T>A (p.Phe8Tyr) | |
X | g.120627145A>C | CA414210948 | C1GALT1C1 | c.22T>G (p.Phe8Val) | COSMIC |
X | g.120627145A>G | CA414210950 | C1GALT1C1 | c.22T>C (p.Phe8Leu) | |
X | g.120627145A>T | CA414210952 | C1GALT1C1 | c.22T>A (p.Phe8Ile) | |
X | g.120627146G>A | CA518448659 | C1GALT1C1 | c.21C>T (p.Ser7=) | gnomAD v4 |
X | g.120627146G>C | CA518448660 | C1GALT1C1 | c.21C>G (p.Ser7=) | |
X | g.120627146G>T | CA518448658 | C1GALT1C1 | c.21C>A (p.Ser7=) | |
X | g.120627147G>A | CA414210955 | C1GALT1C1 | c.20C>T (p.Ser7Phe) | |
X | g.120627147G>C | CA414210956 | C1GALT1C1 | c.20C>G (p.Ser7Cys) | gnomAD v4 |
X | g.120627147G>T | CA414210957 | C1GALT1C1 | c.20C>A (p.Ser7Tyr) | |
X | g.120627148A>C | CA414210959 | C1GALT1C1 | c.19T>G (p.Ser7Ala) | |
X | g.120627148A>G | CA414210960 | C1GALT1C1 | c.19T>C (p.Ser7Pro) | |
X | g.120627148A>T | CA414210961 | C1GALT1C1 | c.19T>A (p.Ser7Thr) | gnomAD v4 |
X | g.120627148_120627151delinsAGCT | CA2454931017 | C1GALT1C1 | c.16_19delinsAGCT (p.Ser6=) | |
X | g.120627149G>A | CA518448668 | C1GALT1C1 | c.18C>T (p.Ser6=) | |
X | g.120627149G>C | CA414210964 | C1GALT1C1 | c.18C>G (p.Ser6Arg) | |
X | g.120627149G>T | CA414210966 | C1GALT1C1 | c.18C>A (p.Ser6Arg) | |
X | g.120627152_120627154del | CA1136817108 | C1GALT1C1 | c.16_18del (p.Ser6del) | dbSNP gnomAD v3 gnomAD v4 |
X | g.120627150C>A | CA414210972 | C1GALT1C1 | c.17G>T (p.Ser6Ile) | |
X | g.120627150C= | CA2454931018 | C1GALT1C1 | c.17G= (p.Ser6=) | |
X | g.120627150C>G | CA414210970 | C1GALT1C1 | c.17G>C (p.Ser6Thr) | |
X | g.120627150C>T | CA10506009 | C1GALT1C1 | c.17G>A (p.Ser6Asn) | dbSNP ExAC |
X | g.120627151_120627157del | CA2823267478 | C1GALT1C1 | c.11_17del (p.Glu4AlafsTer4) | |
X | g.120627150_120627151insACTG | CA2823267479 | C1GALT1C1 | c.16_17insCAGT (p.Ser6ThrfsTer25) | |
X | g.120627151T>A | CA414210974 | C1GALT1C1 | c.16A>T (p.Ser6Cys) | |
X | g.120627151T>C | CA10506010 | C1GALT1C1 | c.16A>G (p.Ser6Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120627151T>G | CA414210976 | C1GALT1C1 | c.16A>C (p.Ser6Arg) | |
X | g.120627151T= | CA2454931019 | C1GALT1C1 | c.16A= (p.Ser6=) | |
X | g.120627152G>A | CA518226108 | C1GALT1C1 | c.15C>T (p.Ser5=) | gnomAD v4 |
X | g.120627152G>C | CA414210979 | C1GALT1C1 | c.15C>G (p.Ser5Arg) | |
X | g.120627152G>T | CA414210981 | C1GALT1C1 | c.15C>A (p.Ser5Arg) | |
X | g.120627153C>A | CA414210984 | C1GALT1C1 | c.14G>T (p.Ser5Ile) | gnomAD v4 |
X | g.120627153C>G | CA414210987 | C1GALT1C1 | c.14G>C (p.Ser5Thr) | |
X | g.120627153C>T | CA414210989 | C1GALT1C1 | c.14G>A (p.Ser5Asn) | |
X | g.120627154T>A | CA414210992 | C1GALT1C1 | c.13A>T (p.Ser5Cys) | |
X | g.120627154T>C | CA414210993 | C1GALT1C1 | c.13A>G (p.Ser5Gly) | gnomAD v4 |
X | g.120627154T>G | CA414210995 | C1GALT1C1 | c.13A>C (p.Ser5Arg) | |
X | g.120627155T>A | CA414210999 | C1GALT1C1 | c.12A>T (p.Glu4Asp) | |
X | g.120627155T>C | CA518226109 | C1GALT1C1 | c.12A>G (p.Glu4=) | gnomAD v4 |
X | g.120627155T>G | CA414210998 | C1GALT1C1 | c.12A>C (p.Glu4Asp) | |
X | g.120627156T>A | CA414211003 | C1GALT1C1 | c.11A>T (p.Glu4Val) | |
X | g.120627156T>C | CA414211005 | C1GALT1C1 | c.11A>G (p.Glu4Gly) | |
X | g.120627156T>G | CA414211007 | C1GALT1C1 | c.11A>C (p.Glu4Ala) | |
X | g.120627157C>A | CA414211010 | C1GALT1C1 | c.10G>T (p.Glu4Ter) | |
X | g.120627157C>G | CA414211013 | C1GALT1C1 | c.10G>C (p.Glu4Gln) | |
X | g.120627157C>T | CA414211015 | C1GALT1C1 | c.10G>A (p.Glu4Lys) | COSMIC |
X | g.120627158A= | CA2454931020 | C1GALT1C1 | c.9T= (p.Ser3=) | |
X | g.120627158A>C | CA518226110 | C1GALT1C1 | c.9T>G (p.Ser3=) | |
X | g.120627158A>G | CA518226111 | C1GALT1C1 | c.9T>C (p.Ser3=) | dbSNP |
X | g.120627158A>T | CA518226112 | C1GALT1C1 | c.9T>A (p.Ser3=) | dbSNP |
X | g.120627159G>A | CA10506011 | C1GALT1C1 | c.8C>T (p.Ser3Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120627159G>C | CA414211018 | C1GALT1C1 | c.8C>G (p.Ser3Cys) | |
X | g.120627159G= | CA2454931021 | C1GALT1C1 | c.8C= (p.Ser3=) | |
X | g.120627159G>T | CA414211020 | C1GALT1C1 | c.8C>A (p.Ser3Tyr) | |
X | g.120627160A>C | CA414211025 | C1GALT1C1 | c.7T>G (p.Ser3Ala) | |
X | g.120627160A>G | CA414211027 | C1GALT1C1 | c.7T>C (p.Ser3Pro) | |
X | g.120627160A>T | CA414211029 | C1GALT1C1 | c.7T>A (p.Ser3Thr) | |
X | g.120627161A>C | CA518226113 | C1GALT1C1 | c.6T>G (p.Leu2=) | |
X | g.120627161A>G | CA518226114 | C1GALT1C1 | c.6T>C (p.Leu2=) | gnomAD v4 |
X | g.120627161A>T | CA518226115 | C1GALT1C1 | c.6T>A (p.Leu2=) | |
X | g.120627162A>C | CA414211031 | C1GALT1C1 | c.5T>G (p.Leu2Arg) | |
X | g.120627162A>G | CA414211036 | C1GALT1C1 | c.5T>C (p.Leu2Pro) | gnomAD v4 |
X | g.120627162A>T | CA414211039 | C1GALT1C1 | c.5T>A (p.Leu2His) | |
X | g.120627163G>A | CA414211041 | C1GALT1C1 | c.4C>T (p.Leu2Phe) | COSMIC |
X | g.120627163G>C | CA414211043 | C1GALT1C1 | c.4C>G (p.Leu2Val) | |
X | g.120627163G>T | CA414211044 | C1GALT1C1 | c.4C>A (p.Leu2Ile) | |
X | g.120627164C>A | CA414211046 | C1GALT1C1 | c.3G>T (p.Met1Ile) | |
X | g.120627164C= | CA2454931022 | C1GALT1C1 | c.3G= (p.Met1=) | |
X | g.120627164C>G | CA130370 | C1GALT1C1 | c.3G>C (p.Met1Ile) | ClinVar dbSNP |
X | g.120627164C>T | CA414211049 | C1GALT1C1 | c.3G>A (p.Met1Ile) | |
X | g.120627165A>C | CA414211050 | C1GALT1C1 | c.2T>G (p.Met1Arg) | |
X | g.120627165A>G | CA414211054 | C1GALT1C1 | c.2T>C (p.Met1Thr) | |
X | g.120627165A>T | CA414211052 | C1GALT1C1 | c.2T>A (p.Met1Lys) | |
X | g.120627165_120627166insGCTCC | CA2823267480 | C1GALT1C1 | c.1_2insGGAGC (p.Met1ArgfsTer11) | |
X | g.120627166T>A | CA414211056 | C1GALT1C1 | c.1A>T (p.Met1Leu) | |
X | g.120627166T>C | CA414211058 | C1GALT1C1 | c.1A>G (p.Met1Val) | |
X | g.120627166T>G | CA414211060 | C1GALT1C1 | c.1A>C (p.Met1Leu) | |
X | g.120627170del | CA2579693209 | C1GALT1C1 | c.1del (p.Met1CysfsTer9) | gnomAD v4 |
X | g.120627167T>A | CA2694604445 | C1GALT1C1 | c.-1A>T (n.-1A>T) | gnomAD v4 |
X | g.120627168T>C | CA2579693210 | C1GALT1C1 | c.-2A>G (n.-2A>G) | gnomAD v4 |
X | g.120627169T>G | CA2454931024 | C1GALT1C1 | c.-3A>C (n.-3A>C) | dbSNP |
X | g.120627169T= | CA2454931023 | C1GALT1C1 | c.-3A= (n.-3A=) | |
X | g.120627170_120627173del | CA2823267481 | C1GALT1C1 | c.-5-1_-3del | |
X | g.120627170_120627177del | CA2823267482 | C1GALT1C1 | c.-5-6_-4del | |
X | g.120627171C>A | CA2579693211 | C1GALT1C1 | c.-5G>T (n.-5G>T) | gnomAD v4 |
X | g.120627172C>A | CA2694604446 | C1GALT1C1 | c.-5-1G>T (n.-5-1G>T) | gnomAD v4 |
X | g.120627173_120627175del | CA2823267483 | C1GALT1C1 | c.-5-4_-5-2del (n.-5-4_-5-2del) |