| 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)
| |
| X | g.120627174A= | CA2454931025 | C1GALT1C1 | c.-5-3T= (n.-5-3T=)
| |
| X | g.120627174A>G | CA644085482 | C1GALT1C1 | c.-5-3T>C (n.-5-3T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.120627174_120627175insAG | CA2823267484 | C1GALT1C1 | c.-5-4_-5-3insCT (n.-5-4_-5-3insCT)
| |
| X | g.120627174_120627175insAGT | CA2823267485 | C1GALT1C1 | c.-5-4_-5-3insACT (n.-5-4_-5-3insACT)
| |
| X | g.120627175T>A | CA10506012 | C1GALT1C1 | c.-5-4A>T (n.-5-4A>T)
| dbSNP ExAC gnomAD v4 |
| X | g.120627175T>C | CA2694604447 | C1GALT1C1 | c.-5-4A>G (n.-5-4A>G)
| gnomAD v4 |
| X | g.120627175T= | CA2454931026 | C1GALT1C1 | c.-5-4A= (n.-5-4A=)
| |
| X | g.120627178del | CA2579693212 | C1GALT1C1 | c.-5-5del (n.-5-5del)
| |
| X | g.120627177A>C | CA2823267486 | C1GALT1C1 | c.-5-6T>G (n.-5-6T>G)
| |
| X | g.120627177A>G | CA2694604448 | C1GALT1C1 | c.-5-6T>C (n.-5-6T>C)
| gnomAD v4 |
| X | g.120627177A>T | CA2579693213 | C1GALT1C1 | c.-5-6T>A (n.-5-6T>A)
| |
| X | g.120627179G>A | CA2454931028 | C1GALT1C1 | c.-5-8C>T (n.-5-8C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.120627179G= | CA2454931027 | C1GALT1C1 | c.-5-8C= (n.-5-8C=)
| |
| X | g.120627180A>T | CA2823267487 | C1GALT1C1 | c.-5-9T>A (n.-5-9T>A)
| |
| X | g.120627182G>A | CA870757663 | C1GALT1C1 | c.-5-11C>T (n.-5-11C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.120627182G= | CA2454931029 | C1GALT1C1 | c.-5-11C= (n.-5-11C=)
| |
| X | g.120627182G>T | CA2694604449 | C1GALT1C1 | c.-5-11C>A (n.-5-11C>A)
| gnomAD v4 |
| X | g.120627184A= | CA2454931030 | C1GALT1C1 | c.-5-13T= (n.-5-13T=)
| |
| X | g.120627184A>C | CA2454931031 | C1GALT1C1 | c.-5-13T>G (n.-5-13T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.120627184A>G | CA2565501290 | C1GALT1C1 | c.-5-13T>C (n.-5-13T>C)
| |
| X | g.120627186A>C | CA2823267489 | C1GALT1C1 | c.-5-15T>G (n.-5-15T>G)
| |
| X | g.120627186_120627192del | CA2823267488 | C1GALT1C1 | c.-5-21_-5-15del (n.-5-21_-5-15del)
| |
| X | g.120627188del | CA2694604450 | C1GALT1C1 | c.-5-17del (n.-5-17del)
| gnomAD v4 |
| X | g.120627188G= | CA2454931033 | C1GALT1C1 | c.-5-17C= (n.-5-17C=)
| |
| X | g.120627188G>T | CA10506013 | C1GALT1C1 | c.-5-17C>A (n.-5-17C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120627188_120627194delinsGACTCTT | CA2454931032 | C1GALT1C1 | c.-5-23_-5-17delinsAAGAGTC (n.-5-23_-5-17delinsAAGAGTC)
| |
| X | g.120627190_120627195del | CA2454931034 | C1GALT1C1 | c.-5-23_-5-18del (n.-5-23_-5-18del)
| dbSNP gnomAD v4 |
| X | g.120627190C>T | CA2504521671 | C1GALT1C1 | c.-5-19G>A (n.-5-19G>A)
| |
| X | g.120627191T>A | CA2823267491 | C1GALT1C1 | c.-5-20A>T (n.-5-20A>T)
| |
| X | g.120627191T>C | CA2549288168 | C1GALT1C1 | c.-5-20A>G (n.-5-20A>G)
| |
| X | g.120627191_120627196del | CA2823267490 | C1GALT1C1 | c.-5-25_-5-20del (n.-5-25_-5-20del)
| |
