| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| X | g.120627192C>A | CA2694604451 | C1GALT1C1 | c.-5-21G>T (n.-5-21G>T) | gnomAD v4 |
| X | g.120627192C= | CA2454931035 | C1GALT1C1 | c.-5-21G= (n.-5-21G=) | |
| X | g.120627192C>G | CA870757667 | C1GALT1C1 | c.-5-21G>C (n.-5-21G>C) | dbSNP |
| X | g.120627193T>A | CA2823267493 | C1GALT1C1 | c.-5-22A>T (n.-5-22A>T) | |
| X | g.120627193_120627194del | CA2823267492 | C1GALT1C1 | c.-5-23_-5-22del (n.-5-23_-5-22del) | |
| X | g.120627193_120627195del | CA2823267494 | C1GALT1C1 | c.-5-24_-5-22del (n.-5-24_-5-22del) | |
| X | g.120627194T>A | CA2694604452 | C1GALT1C1 | c.-5-23A>T (n.-5-23A>T) | gnomAD v4 |
| X | g.120627194_120627197del | CA2823267495 | C1GALT1C1 | c.-5-26_-5-23del (n.-5-26_-5-23del) | |
| X | g.120627198del | CA2823267496 | C1GALT1C1 | c.-5-24del (n.-5-24del) | |
| X | g.120627196A>C | CA2823267498 | C1GALT1C1 | c.-5-25T>G (n.-5-25T>G) | |
| X | g.120627197_120627200del | CA2823267497 | C1GALT1C1 | c.-5-28_-5-25del (n.-5-28_-5-25del) | |
| X | g.120627197A>C | CA2823267499 | C1GALT1C1 | c.-5-26T>G (n.-5-26T>G) | |
| X | g.120627198A>T | CA2823267500 | C1GALT1C1 | c.-5-27T>A (n.-5-27T>A) | |
| X | g.120627199T>C | CA10506014 | C1GALT1C1 | c.-5-28A>G (n.-5-28A>G) | dbSNP ExAC gnomAD v4 |
| X | g.120627199T= | CA2454931036 | C1GALT1C1 | c.-5-28A= (n.-5-28A=) | |
| X | g.120627202T>G | CA644085483 | C1GALT1C1 | c.-5-31A>C (n.-5-31A>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120627202T= | CA2454931037 | C1GALT1C1 | c.-5-31A= (n.-5-31A=) | |
| X | g.120627202_120627203del | CA2823267501 | C1GALT1C1 | c.-5-32_-5-31del (n.-5-32_-5-31del) | |
| X | g.120627202_120627204del | CA2823267502 | C1GALT1C1 | c.-5-33_-5-31del (n.-5-33_-5-31del) | |
| X | g.120627203T>A | CA2694604453 | C1GALT1C1 | c.-5-32A>T (n.-5-32A>T) | gnomAD v4 |
| X | g.120627203_120627204del | CA2823267503 | C1GALT1C1 | c.-5-33_-5-32del (n.-5-33_-5-32del) | |
| X | g.120627204A= | CA2454931038 | C1GALT1C1 | c.-5-33T= (n.-5-33T=) | |
| X | g.120627204A>C | CA870757670 | C1GALT1C1 | c.-5-33T>G (n.-5-33T>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120627204_120627205insCG | CA2823267504 | C1GALT1C1 | c.-5-34_-5-33insCG (n.-5-34_-5-33insCG) | |
| X | g.120627205A>G | CA2607958486 | C1GALT1C1 | c.-5-34T>C (n.-5-34T>C) | gnomAD v4 |
| X | g.120627206T>C | CA2454931040 | C1GALT1C1 | c.-5-35A>G (n.-5-35A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120627206T>G | CA2823267505 | C1GALT1C1 | c.-5-35A>C (n.-5-35A>C) | |
| X | g.120627206T= | CA2454931039 | C1GALT1C1 | c.-5-35A= (n.-5-35A=) | |
| X | g.120627213del | CA2694604454 | C1GALT1C1 | c.-5-38del (n.-5-38del) | gnomAD v4 |
| X | g.120627213A= | CA2454931041 | C1GALT1C1 | c.-5-42T= (n.-5-42T=) | |
| X | g.120627213A>C | CA10506015 | C1GALT1C1 | c.-5-42T>G (n.-5-42T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120627213A>G | CA2579693214 | C1GALT1C1 | c.-5-42T>C (n.-5-42T>C) | |
| X | g.120627214G>A | CA870757673 | C1GALT1C1 | c.-5-43C>T (n.-5-43C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120627214G= | CA2454931042 | C1GALT1C1 | c.-5-43C= (n.-5-43C=) | |
| X | g.120627214G>T | CA10506016 | C1GALT1C1 | c.-5-43C>A (n.-5-43C>A) | dbSNP ExAC gnomAD v4 |
| X | g.120627216T>A | CA2694604455 | C1GALT1C1 | c.-5-45A>T (n.-5-45A>T) c.-6+40A>T (n.-6+40A>T) | gnomAD v4 |
| X | g.120627216T>C | CA10506017 | C1GALT1C1 | c.-5-45A>G (n.-5-45A>G) c.-6+40A>G (n.-6+40A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120627216T>G | CA2694604456 | C1GALT1C1 | c.-5-45A>C (n.-5-45A>C) c.-6+40A>C (n.-6+40A>C) | gnomAD v4 |
| X | g.120627216T= | CA2454931043 | C1GALT1C1 | c.-5-45A= (n.-5-45A=) c.-6+40A= (n.-6+40A=) | |
| X | g.120627217T>A | CA2694604457 | C1GALT1C1 | c.-5-46A>T (n.-5-46A>T) c.-6+39A>T (n.-6+39A>T) | gnomAD v4 |
| X | g.120627219G>T | CA2694604458 | C1GALT1C1 | c.-5-48C>A (n.-5-48C>A) c.-6+37C>A (n.-6+37C>A) | gnomAD v4 |
| X | g.120627220T>A | CA2823267507 | C1GALT1C1 | c.-5-49A>T (n.-5-49A>T) c.-6+36A>T (n.-6+36A>T) | |
| X | g.120627221_120627222del | CA2823267506 | C1GALT1C1 | c.-5-50_-5-49del (n.-5-50_-5-49del) c.-6+35_-6+36del (n.-6+35_-6+36del) | |
| X | g.120627220_120627221insACAA | CA2823267510 | C1GALT1C1 | c.-5-50_-5-49insTTGT (n.-5-50_-5-49insTTGT) c.-6+35_-6+36insTTGT (n.-6+35_-6+36insTTGT) | |
| X | g.120627220_120627221insACAC | CA2823267508 | C1GALT1C1 | c.-5-50_-5-49insGTGT (n.-5-50_-5-49insGTGT) c.-6+35_-6+36insGTGT (n.-6+35_-6+36insGTGT) | |
| X | g.120627221C>A | CA334145143 | C1GALT1C1 | c.-5-50G>T (n.-5-50G>T) c.-6+35G>T (n.-6+35G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120627221C= | CA2454931044 | C1GALT1C1 | c.-5-50G= (n.-5-50G=) c.-6+35G= (n.-6+35G=) | |
| X | g.120627221C>T | CA2454931045 | C1GALT1C1 | c.-5-50G>A (n.-5-50G>A) c.-6+35G>A (n.-6+35G>A) | dbSNP |
| X | g.120627221_120627225del | CA2823267509 | C1GALT1C1 | c.-5-54_-5-50del (n.-5-54_-5-50del) c.-6+31_-6+35del (n.-6+31_-6+35del) | |
| X | g.120627221_120627222insAGT | CA2823267511 | C1GALT1C1 | c.-5-51_-5-50insACT (n.-5-51_-5-50insACT) c.-6+34_-6+35insACT (n.-6+34_-6+35insACT) | |
| X | g.120627222del | CA2823267512 | C1GALT1C1 | c.-5-51del (n.-5-51del) c.-6+34del (n.-6+34del) | |
| X | g.120627222_120627224del | CA2823267513 | C1GALT1C1 | c.-5-53_-5-51del (n.-5-53_-5-51del) c.-6+32_-6+34del (n.-6+32_-6+34del) | |
| X | g.120627223A>G | CA2579693215 | C1GALT1C1 | c.-5-52T>C (n.-5-52T>C) c.-6+33T>C (n.-6+33T>C) | gnomAD v4 |