| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120626934T>A | CA414209777 | C1GALT1C1 | c.233A>T (p.Lys78Ile) | |
| X | g.120626934T>C | CA414209778 | C1GALT1C1 | c.233A>G (p.Lys78Arg) | |
| X | g.120626934T>G | CA414209780 | C1GALT1C1 | c.233A>C (p.Lys78Thr) | |
| X | g.120626935T>A | CA414209787 | C1GALT1C1 | c.232A>T (p.Lys78Ter) | |
| X | g.120626935T>C | CA414209783 | C1GALT1C1 | c.232A>G (p.Lys78Glu) | |
| X | g.120626935T>G | CA414209785 | C1GALT1C1 | c.232A>C (p.Lys78Gln) | |
| X | g.120626936G>A | CA518448393 | C1GALT1C1 | c.231C>T (p.Pro77=) | |
| X | g.120626936G>C | CA518448394 | C1GALT1C1 | c.231C>G (p.Pro77=) | |
| X | g.120626936G= | CA2454930922 | C1GALT1C1 | c.231C= (p.Pro77=) | |
| X | g.120626936G>T | CA10505980 | C1GALT1C1 | c.231C>A (p.Pro77=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626937G>A | CA414209792 | C1GALT1C1 | c.230C>T (p.Pro77Leu) | |
| X | g.120626937G>C | CA414209794 | C1GALT1C1 | c.230C>G (p.Pro77Arg) | |
| X | g.120626937G>T | CA414209795 | C1GALT1C1 | c.230C>A (p.Pro77His) | |
| X | g.120626938G>A | CA414209798 | C1GALT1C1 | c.229C>T (p.Pro77Ser) | |
| X | g.120626938G>C | CA414209800 | C1GALT1C1 | c.229C>G (p.Pro77Ala) | |
| X | g.120626938G>T | CA414209802 | C1GALT1C1 | c.229C>A (p.Pro77Thr) | |
| X | g.120626939T>A | CA414209804 | C1GALT1C1 | c.228A>T (p.Lys76Asn) | |
| X | g.120626939T>C | CA518448397 | C1GALT1C1 | c.228A>G (p.Lys76=) | |
| X | g.120626939T>G | CA10505981 | C1GALT1C1 | c.228A>C (p.Lys76Asn) | dbSNP ExAC |
| X | g.120626939T= | CA2454930924 | C1GALT1C1 | c.228A= (p.Lys76=) | |
| X | g.120626940T>A | CA414209808 | C1GALT1C1 | c.227A>T (p.Lys76Ile) | |
| X | g.120626940T>C | CA414209810 | C1GALT1C1 | c.227A>G (p.Lys76Arg) | |
| X | g.120626940T>G | CA414209812 | C1GALT1C1 | c.227A>C (p.Lys76Thr) | |
| X | g.120626941T>A | CA414209820 | C1GALT1C1 | c.226A>T (p.Lys76Ter) | |
| X | g.120626941T>C | CA414209817 | C1GALT1C1 | c.226A>G (p.Lys76Glu) | |
| X | g.120626941T>G | CA414209816 | C1GALT1C1 | c.226A>C (p.Lys76Gln) | |
| X | g.120626942T>A | CA518448400 | C1GALT1C1 | c.225A>T (p.Val75=) | |
| X | g.120626942T>C | CA518448402 | C1GALT1C1 | c.225A>G (p.Val75=) | gnomAD v4 |
| X | g.120626942T>G | CA518448403 | C1GALT1C1 | c.225A>C (p.Val75=) | |
| X | g.120626943A>C | CA414209823 | C1GALT1C1 | c.224T>G (p.Val75Gly) | |
| X | g.120626943A>G | CA414209827 | C1GALT1C1 | c.224T>C (p.Val75Ala) | |
| X | g.120626943A>T | CA414209825 | C1GALT1C1 | c.224T>A (p.Val75Glu) | |
| X | g.120626944C>A | CA414209830 | C1GALT1C1 | c.223G>T (p.Val75Leu) | |
| X | g.120626944C>G | CA414209834 | C1GALT1C1 | c.223G>C (p.Val75Leu) | |
| X | g.120626944C>T | CA414209832 | C1GALT1C1 | c.223G>A (p.Val75Ile) | |
| X | g.120626945A>C | CA518448407 | C1GALT1C1 | c.222T>G (p.Leu74=) | |
| X | g.120626945A>G | CA518448408 | C1GALT1C1 | c.222T>C (p.Leu74=) | |
| X | g.120626945A>T | CA518448409 | C1GALT1C1 | c.222T>A (p.Leu74=) | |
| X | g.120626946A>C | CA414209837 | C1GALT1C1 | c.221T>G (p.Leu74Arg) | |
| X | g.120626946A>G | CA414209839 | C1GALT1C1 | c.221T>C (p.Leu74Pro) | |
| X | g.120626946A>T | CA414209841 | C1GALT1C1 | c.221T>A (p.Leu74His) | |
| X | g.120626947G>A | CA414209844 | C1GALT1C1 | c.220C>T (p.Leu74Phe) | gnomAD v4 |
| X | g.120626947G>C | CA414209846 | C1GALT1C1 | c.220C>G (p.Leu74Val) | |
| X | g.120626947G= | CA2454930926 | C1GALT1C1 | c.220C= (p.Leu74=) | |
| X | g.120626947G>T | CA10505982 | C1GALT1C1 | c.220C>A (p.Leu74Ile) | dbSNP ExAC gnomAD v2 |
| X | g.120626948G>A | CA518448414 | C1GALT1C1 | c.219C>T (p.Ile73=) | |
| X | g.120626948G>C | CA414209851 | C1GALT1C1 | c.219C>G (p.Ile73Met) | |
| X | g.120626948G>T | CA518448417 | C1GALT1C1 | c.219C>A (p.Ile73=) | gnomAD v4 |
| X | g.120626949A>C | CA414209858 | C1GALT1C1 | c.218T>G (p.Ile73Ser) | |
| X | g.120626949A>G | CA414209853 | C1GALT1C1 | c.218T>C (p.Ile73Thr) | |
| X | g.120626949A>T | CA414209856 | C1GALT1C1 | c.218T>A (p.Ile73Asn) | |
| X | g.120626950T>A | CA414209861 | C1GALT1C1 | c.217A>T (p.Ile73Phe) | |
| X | g.120626950T>C | CA414209862 | C1GALT1C1 | c.217A>G (p.Ile73Val) | |
| X | g.120626950T>G | CA414209864 | C1GALT1C1 | c.217A>C (p.Ile73Leu) | |
| X | g.120626951A= | CA2454930929 | C1GALT1C1 | c.216T= (p.Ile72=) | |
| X | g.120626951A>C | CA414209866 | C1GALT1C1 | c.216T>G (p.Ile72Met) | |
| X | g.120626951A>G | CA10505983 | C1GALT1C1 | c.216T>C (p.Ile72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626951A>T | CA518448418 | C1GALT1C1 | c.216T>A (p.Ile72=) | |
| X | g.120626952A>C | CA414209870 | C1GALT1C1 | c.215T>G (p.Ile72Ser) | |
| X | g.120626952A>G | CA414209873 | C1GALT1C1 | c.215T>C (p.Ile72Thr) | COSMIC |
| X | g.120626952A>T | CA414209871 | C1GALT1C1 | c.215T>A (p.Ile72Asn) | |
| X | g.120626953T>A | CA414209876 | C1GALT1C1 | c.214A>T (p.Ile72Phe) | |
| X | g.120626953T>C | CA414209879 | C1GALT1C1 | c.214A>G (p.Ile72Val) | |
| X | g.120626953T>G | CA414209881 | C1GALT1C1 | c.214A>C (p.Ile72Leu) | |
| X | g.120626954A>C | CA414209883 | C1GALT1C1 | c.213T>G (p.Cys71Trp) | |
| X | g.120626954A>G | CA518448423 | C1GALT1C1 | c.213T>C (p.Cys71=) | |
| X | g.120626954A>T | CA414209884 | C1GALT1C1 | c.213T>A (p.Cys71Ter) | |
| X | g.120626955C>A | CA414209888 | C1GALT1C1 | c.212G>T (p.Cys71Phe) | |
| X | g.120626955C>G | CA414209890 | C1GALT1C1 | c.212G>C (p.Cys71Ser) | |
| X | g.120626955C>T | CA414209892 | C1GALT1C1 | c.212G>A (p.Cys71Tyr) | |
| X | g.120626956A>C | CA414209894 | C1GALT1C1 | c.211T>G (p.Cys71Gly) | |
| X | g.120626956A>G | CA414209897 | C1GALT1C1 | c.211T>C (p.Cys71Arg) | |
| X | g.120626956A>T | CA414209899 | C1GALT1C1 | c.211T>A (p.Cys71Ser) | |
| X | g.120626957G>A | CA10505984 | C1GALT1C1 | c.210C>T (p.Tyr70=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626957G>C | CA414209904 | C1GALT1C1 | c.210C>G (p.Tyr70Ter) | |
| X | g.120626957G= | CA2454930932 | C1GALT1C1 | c.210C= (p.Tyr70=) | |
| X | g.120626957G>T | CA414209903 | C1GALT1C1 | c.210C>A (p.Tyr70Ter) | |
| X | g.120626958T>A | CA414209908 | C1GALT1C1 | c.209A>T (p.Tyr70Phe) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626958T>C | CA414209910 | C1GALT1C1 | c.209A>G (p.Tyr70Cys) | |
| X | g.120626958T>G | CA414209912 | C1GALT1C1 | c.209A>C (p.Tyr70Ser) | |
| X | g.120626958T= | CA2454930934 | C1GALT1C1 | c.209A= (p.Tyr70=) | |
| X | g.120626959A= | CA2454930936 | C1GALT1C1 | c.208T= (p.Tyr70=) | |
| X | g.120626959A>C | CA414209915 | C1GALT1C1 | c.208T>G (p.Tyr70Asp) | |
| X | g.120626959A>G | CA334145039 | C1GALT1C1 | c.208T>C (p.Tyr70His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626959A>T | CA414209918 | C1GALT1C1 | c.208T>A (p.Tyr70Asn) | |
| X | g.120626960T>A | CA518448428 | C1GALT1C1 | c.207A>T (p.Val69=) | |
| X | g.120626960T>C | CA518448429 | C1GALT1C1 | c.207A>G (p.Val69=) | |
| X | g.120626960T>G | CA518448430 | C1GALT1C1 | c.207A>C (p.Val69=) | |
| X | g.120626961A>C | CA414209921 | C1GALT1C1 | c.206T>G (p.Val69Gly) | |
| X | g.120626961A>G | CA414209923 | C1GALT1C1 | c.206T>C (p.Val69Ala) | |
| X | g.120626961A>T | CA414209925 | C1GALT1C1 | c.206T>A (p.Val69Glu) | |
| X | g.120626962C>A | CA414209928 | C1GALT1C1 | c.205G>T (p.Val69Leu) | |
| X | g.120626962C= | CA2454930938 | C1GALT1C1 | c.205G= (p.Val69=) | |
| X | g.120626962C>G | CA414209931 | C1GALT1C1 | c.205G>C (p.Val69Leu) | |
| X | g.120626962C>T | CA10505985 | C1GALT1C1 | c.205G>A (p.Val69Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626963T>A | CA518448435 | C1GALT1C1 | c.204A>T (p.Arg68=) | |
| X | g.120626963T>C | CA518448437 | C1GALT1C1 | c.204A>G (p.Arg68=) | |
| X | g.120626963T>G | CA518448436 | C1GALT1C1 | c.204A>C (p.Arg68=) | |
| X | g.120626964C>A | CA414209939 | C1GALT1C1 | c.203G>T (p.Arg68Leu) | |
| X | g.120626964C= | CA2454930940 | C1GALT1C1 | c.203G= (p.Arg68=) | |
| X | g.120626964C>G | CA414209936 | C1GALT1C1 | c.203G>C (p.Arg68Pro) | |
| X | g.120626964C>T | CA10505986 | C1GALT1C1 | c.203G>A (p.Arg68Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.120626965G>A | CA121171 | C1GALT1C1 | c.202C>T (p.Arg68Ter) | ClinVar dbSNP ExAC COSMIC |
| X | g.120626965G>C | CA414209943 | C1GALT1C1 | c.202C>G (p.Arg68Gly) | |
| X | g.120626965G= | CA2454930943 | C1GALT1C1 | c.202C= (p.Arg68=) | |
| X | g.120626965G>T | CA518448438 | C1GALT1C1 | c.202C>A (p.Arg68=) | |
| X | g.120626966A>C | CA414209945 | C1GALT1C1 | c.201T>G (p.Phe67Leu) | |
| X | g.120626966A>G | CA518448440 | C1GALT1C1 | c.201T>C (p.Phe67=) | |
| X | g.120626966A>T | CA414209948 | C1GALT1C1 | c.201T>A (p.Phe67Leu) | |
| X | g.120626967A>C | CA414209952 | C1GALT1C1 | c.200T>G (p.Phe67Cys) | |
| X | g.120626967A>G | CA414209954 | C1GALT1C1 | c.200T>C (p.Phe67Ser) | |
| X | g.120626967A>T | CA414209956 | C1GALT1C1 | c.200T>A (p.Phe67Tyr) | |
| X | g.120626968A>C | CA414209958 | C1GALT1C1 | c.199T>G (p.Phe67Val) | |
| X | g.120626968A>G | CA414209961 | C1GALT1C1 | c.199T>C (p.Phe67Leu) | |
| X | g.120626968A>T | CA414209963 | C1GALT1C1 | c.199T>A (p.Phe67Ile) | |
| X | g.120626969G>A | CA10505987 | C1GALT1C1 | c.198C>T (p.Ser66=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626969G>C | CA414209968 | C1GALT1C1 | c.198C>G (p.Ser66Arg) | |
| X | g.120626969G= | CA2454930945 | C1GALT1C1 | c.198C= (p.Ser66=) | |
| X | g.120626969G>T | CA414209966 | C1GALT1C1 | c.198C>A (p.Ser66Arg) | |
| X | g.120626970C>A | CA414209971 | C1GALT1C1 | c.197G>T (p.Ser66Ile) | |
| X | g.120626970C>G | CA414209975 | C1GALT1C1 | c.197G>C (p.Ser66Thr) | |
| X | g.120626970C>T | CA414209973 | C1GALT1C1 | c.197G>A (p.Ser66Asn) | |
| X | g.120626971T>A | CA414209978 | C1GALT1C1 | c.196A>T (p.Ser66Cys) | |
| X | g.120626971T>C | CA414209980 | C1GALT1C1 | c.196A>G (p.Ser66Gly) | |
| X | g.120626971T>G | CA414209983 | C1GALT1C1 | c.196A>C (p.Ser66Arg) | |
| X | g.120626972C>A | CA414209985 | C1GALT1C1 | c.195G>T (p.Lys65Asn) | |
| X | g.120626972C>G | CA414209987 | C1GALT1C1 | c.195G>C (p.Lys65Asn) | |
| X | g.120626972C>T | CA518448443 | C1GALT1C1 | c.195G>A (p.Lys65=) | |
| X | g.120626973T>A | CA414209990 | C1GALT1C1 | c.194A>T (p.Lys65Met) | |
| X | g.120626973T>C | CA414209991 | C1GALT1C1 | c.194A>G (p.Lys65Arg) | |
| X | g.120626973T>G | CA414209993 | C1GALT1C1 | c.194A>C (p.Lys65Thr) | |
| X | g.120626974del | CA2579693208 | C1GALT1C1 | c.194del (p.Lys65ArgfsTer11) | |
| X | g.120626974T>A | CA414209996 | C1GALT1C1 | c.193A>T (p.Lys65Ter) | |
| X | g.120626974T>C | CA414209997 | C1GALT1C1 | c.193A>G (p.Lys65Glu) | ClinVar gnomAD v4 |
| X | g.120626974T>G | CA414209998 | C1GALT1C1 | c.193A>C (p.Lys65Gln) | |
| X | g.120626975A>C | CA414210003 | C1GALT1C1 | c.192T>G (p.Ser64Arg) | |
| X | g.120626975A>G | CA518448444 | C1GALT1C1 | c.192T>C (p.Ser64=) | |
| X | g.120626975A>T | CA414210001 | C1GALT1C1 | c.192T>A (p.Ser64Arg) | |
| X | g.120626976C>A | CA414210006 | C1GALT1C1 | c.191G>T (p.Ser64Ile) | |
| X | g.120626976C>G | CA414210007 | C1GALT1C1 | c.191G>C (p.Ser64Thr) | |
| X | g.120626976C>T | CA414210009 | C1GALT1C1 | c.191G>A (p.Ser64Asn) | |
| X | g.120626977T>A | CA414210012 | C1GALT1C1 | c.190A>T (p.Ser64Cys) | |
| X | g.120626977T>C | CA414210014 | C1GALT1C1 | c.190A>G (p.Ser64Gly) | |
| X | g.120626977T>G | CA414210017 | C1GALT1C1 | c.190A>C (p.Ser64Arg) | |
| X | g.120626978G>A | CA518448447 | C1GALT1C1 | c.189C>T (p.Leu63=) | |
| X | g.120626978G>C | CA518448448 | C1GALT1C1 | c.189C>G (p.Leu63=) | |
| X | g.120626978G>T | CA518448449 | C1GALT1C1 | c.189C>A (p.Leu63=) | |
| X | g.120626979A>C | CA414210020 | C1GALT1C1 | c.188T>G (p.Leu63Arg) | |
| X | g.120626979A>G | CA414210022 | C1GALT1C1 | c.188T>C (p.Leu63Pro) | gnomAD v4 |
| X | g.120626979A>T | CA414210024 | C1GALT1C1 | c.188T>A (p.Leu63His) | |
| X | g.120626980G>A | CA414210027 | C1GALT1C1 | c.187C>T (p.Leu63Phe) | |
| X | g.120626980G>C | CA414210028 | C1GALT1C1 | c.187C>G (p.Leu63Val) | |
| X | g.120626980G>T | CA414210029 | C1GALT1C1 | c.187C>A (p.Leu63Ile) | |
| X | g.120626981C>A | CA414210034 | C1GALT1C1 | c.186G>T (p.Glu62Asp) | |
| X | g.120626981C>G | CA414210032 | C1GALT1C1 | c.186G>C (p.Glu62Asp) | |
| X | g.120626981C>T | CA518448453 | C1GALT1C1 | c.186G>A (p.Glu62=) | |
| X | g.120626982T>A | CA414210037 | C1GALT1C1 | c.185A>T (p.Glu62Val) | |
| X | g.120626982T>C | CA414210039 | C1GALT1C1 | c.185A>G (p.Glu62Gly) | |
| X | g.120626982T>G | CA414210041 | C1GALT1C1 | c.185A>C (p.Glu62Ala) | |
| X | g.120626983C>A | CA414210044 | C1GALT1C1 | c.184G>T (p.Glu62Ter) | |
| X | g.120626983C>G | CA414210046 | C1GALT1C1 | c.184G>C (p.Glu62Gln) | |
| X | g.120626983C>T | CA414210048 | C1GALT1C1 | c.184G>A (p.Glu62Lys) | |
| X | g.120626984C>A | CA414210050 | C1GALT1C1 | c.183G>T (p.Met61Ile) | |
| X | g.120626984C>G | CA414210053 | C1GALT1C1 | c.183G>C (p.Met61Ile) | |
| X | g.120626984C>T | CA414210055 | C1GALT1C1 | c.183G>A (p.Met61Ile) | |
| X | g.120626985A>C | CA414210058 | C1GALT1C1 | c.182T>G (p.Met61Arg) | |
| X | g.120626985A>G | CA414210060 | C1GALT1C1 | c.182T>C (p.Met61Thr) | gnomAD v4 |
| X | g.120626985A>T | CA414210062 | C1GALT1C1 | c.182T>A (p.Met61Lys) | |
| X | g.120626986T>A | CA414210067 | C1GALT1C1 | c.181A>T (p.Met61Leu) | |
| X | g.120626986T>C | CA414210069 | C1GALT1C1 | c.181A>G (p.Met61Val) | dbSNP gnomAD v4 |
| X | g.120626986T>G | CA414210065 | C1GALT1C1 | c.181A>C (p.Met61Leu) | gnomAD v4 |
| X | g.120626986T= | CA2454930947 | C1GALT1C1 | c.181A= (p.Met61=) | |
| X | g.120626987G>A | CA518448460 | C1GALT1C1 | c.180C>T (p.Arg60=) | |
| X | g.120626987G>C | CA518448461 | C1GALT1C1 | c.180C>G (p.Arg60=) | |
| X | g.120626987G>T | CA518448462 | C1GALT1C1 | c.180C>A (p.Arg60=) | gnomAD v4 |
| X | g.120626988C>A | CA10505989 | C1GALT1C1 | c.179G>T (p.Arg60Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626988C= | CA2454930949 | C1GALT1C1 | c.179G= (p.Arg60=) | |
| X | g.120626988C>G | CA414210073 | C1GALT1C1 | c.179G>C (p.Arg60Pro) | |
| X | g.120626988C>T | CA10505988 | C1GALT1C1 | c.179G>A (p.Arg60His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.120626989G>A | CA10505990 | C1GALT1C1 | c.178C>T (p.Arg60Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.120626989G>C | CA414210080 | C1GALT1C1 | c.178C>G (p.Arg60Gly) | |
| X | g.120626989G= | CA2454930951 | C1GALT1C1 | c.178C= (p.Arg60=) | |
| X | g.120626989G>T | CA414210082 | C1GALT1C1 | c.178C>A (p.Arg60Ser) | |
| X | g.120626990C>A | CA414210085 | C1GALT1C1 | c.177G>T (p.Glu59Asp) | |
| X | g.120626990C>G | CA414210088 | C1GALT1C1 | c.177G>C (p.Glu59Asp) | |
| X | g.120626990C>T | CA518448466 | C1GALT1C1 | c.177G>A (p.Glu59=) | |
| X | g.120626991T>A | CA414210090 | C1GALT1C1 | c.176A>T (p.Glu59Val) | |
| X | g.120626991T>C | CA414210093 | C1GALT1C1 | c.176A>G (p.Glu59Gly) | |
| X | g.120626991T>G | CA414210095 | C1GALT1C1 | c.176A>C (p.Glu59Ala) | |
| X | g.120626992C>A | CA414210098 | C1GALT1C1 | c.175G>T (p.Glu59Ter) | |
| X | g.120626992C>G | CA414210100 | C1GALT1C1 | c.175G>C (p.Glu59Gln) | |
| X | g.120626992C>T | CA414210102 | C1GALT1C1 | c.175G>A (p.Glu59Lys) | gnomAD v4 |
| X | g.120626993A>C | CA414210108 | C1GALT1C1 | c.174T>G (p.Asp58Glu) | |
| X | g.120626993A>G | CA518448471 | C1GALT1C1 | c.174T>C (p.Asp58=) | |
| X | g.120626993A>T | CA414210106 | C1GALT1C1 | c.174T>A (p.Asp58Glu) | gnomAD v4 |
| X | g.120626994T>A | CA414210111 | C1GALT1C1 | c.173A>T (p.Asp58Val) | |
| X | g.120626994T>C | CA10505991 | C1GALT1C1 | c.173A>G (p.Asp58Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626994T>G | CA414210113 | C1GALT1C1 | c.173A>C (p.Asp58Ala) | |
| X | g.120626994T= | CA2454930954 | C1GALT1C1 | c.173A= (p.Asp58=) | |
| X | g.120626995C>A | CA414210116 | C1GALT1C1 | c.172G>T (p.Asp58Tyr) | |
| X | g.120626995C>G | CA414210121 | C1GALT1C1 | c.172G>C (p.Asp58His) | |
| X | g.120626995C>T | CA414210119 | C1GALT1C1 | c.172G>A (p.Asp58Asn) | |
| X | g.120626996C>A | CA414210124 | C1GALT1C1 | c.171G>T (p.Glu57Asp) | |
| X | g.120626996C= | CA2454930956 | C1GALT1C1 | c.171G= (p.Glu57=) | |
| X | g.120626996C>G | CA414210126 | C1GALT1C1 | c.171G>C (p.Glu57Asp) | |
| X | g.120626996C>T | CA518448473 | C1GALT1C1 | c.171G>A (p.Glu57=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.120626997T>A | CA414210128 | C1GALT1C1 | c.170A>T (p.Glu57Val) | |
| X | g.120626997T>C | CA414210130 | C1GALT1C1 | c.170A>G (p.Glu57Gly) | |
| X | g.120626997T>G | CA414210131 | C1GALT1C1 | c.170A>C (p.Glu57Ala) | |
| X | g.120626998C>A | CA414210133 | C1GALT1C1 | c.169G>T (p.Glu57Ter) | |
| X | g.120626998C>G | CA414210135 | C1GALT1C1 | c.169G>C (p.Glu57Gln) | |
| X | g.120626998C>T | CA414210137 | C1GALT1C1 | c.169G>A (p.Glu57Lys) | |
| X | g.120626999T>A | CA518448475 | C1GALT1C1 | c.168A>T (p.Ser56=) | |
| X | g.120626999T>C | CA518448477 | C1GALT1C1 | c.168A>G (p.Ser56=) | gnomAD v4 |
| X | g.120626999T>G | CA518448476 | C1GALT1C1 | c.168A>C (p.Ser56=) | |
| X | g.120627000G>A | CA414210141 | C1GALT1C1 | c.167C>T (p.Ser56Leu) | |
| X | g.120627000G>C | CA414210143 | C1GALT1C1 | c.167C>G (p.Ser56Ter) | |
| X | g.120627000G>T | CA414210144 | C1GALT1C1 | c.167C>A (p.Ser56Ter) | |
| X | g.120627001A>C | CA414210148 | C1GALT1C1 | c.166T>G (p.Ser56Ala) | |
| X | g.120627001A>G | CA414210152 | C1GALT1C1 | c.166T>C (p.Ser56Pro) | |
| X | g.120627001A>T | CA414210150 | C1GALT1C1 | c.166T>A (p.Ser56Thr) | |
| X | g.120627002A>C | CA414210154 | C1GALT1C1 | c.165T>G (p.Ile55Met) | |
| X | g.120627002A>G | CA518448480 | C1GALT1C1 | c.165T>C (p.Ile55=) | |
| X | g.120627002A>T | CA518448479 | C1GALT1C1 | c.165T>A (p.Ile55=) | |
| X | g.120627003A>C | CA414210156 | C1GALT1C1 | c.164T>G (p.Ile55Ser) | |
| X | g.120627003A>G | CA414210158 | C1GALT1C1 | c.164T>C (p.Ile55Thr) | |
| X | g.120627003A>T | CA414210161 | C1GALT1C1 | c.164T>A (p.Ile55Asn) | |
| X | g.120627004T>A | CA414210163 | C1GALT1C1 | c.163A>T (p.Ile55Phe) | |
| X | g.120627004T>C | CA414210165 | C1GALT1C1 | c.163A>G (p.Ile55Val) | |
| X | g.120627004T>G | CA414210166 | C1GALT1C1 | c.163A>C (p.Ile55Leu) | |
| X | g.120627005T>A | CA414210169 | C1GALT1C1 | c.162A>T (p.Lys54Asn) | |
| X | g.120627005T>C | CA518448481 | C1GALT1C1 | c.162A>G (p.Lys54=) | |
| X | g.120627005T>G | CA414210171 | C1GALT1C1 | c.162A>C (p.Lys54Asn) | COSMIC |
| X | g.120627006T>A | CA414210176 | C1GALT1C1 | c.161A>T (p.Lys54Ile) | |
| X | g.120627006T>C | CA414210177 | C1GALT1C1 | c.161A>G (p.Lys54Arg) | |
| X | g.120627006T>G | CA414210174 | C1GALT1C1 | c.161A>C (p.Lys54Thr) | |
| X | g.120627007T>A | CA414210178 | C1GALT1C1 | c.160A>T (p.Lys54Ter) | |
| X | g.120627007T>C | CA414210180 | C1GALT1C1 | c.160A>G (p.Lys54Glu) | |
| X | g.120627007T>G | CA414210182 | C1GALT1C1 | c.160A>C (p.Lys54Gln) | |
| X | g.120627008C>A | CA414210186 | C1GALT1C1 | c.159G>T (p.Leu53Phe) | |
| X | g.120627008C= | CA2454930959 | C1GALT1C1 | c.159G= (p.Leu53=) | |
| X | g.120627008C>G | CA414210188 | C1GALT1C1 | c.159G>C (p.Leu53Phe) | |
| X | g.120627008C>T | CA518448483 | C1GALT1C1 | c.159G>A (p.Leu53=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120627008_120627013delinsCAAGAT | CA2454930958 | C1GALT1C1 | c.154_159delinsATCTTG (p.Ile52=) | |
| X | g.120627009A>C | CA414210191 | C1GALT1C1 | c.158T>G (p.Leu53Trp) | |
| X | g.120627009A>G | CA414210193 | C1GALT1C1 | c.158T>C (p.Leu53Ser) | COSMIC |
| X | g.120627009A>T | CA414210195 | C1GALT1C1 | c.158T>A (p.Leu53Ter) | |
| X | g.120627010_120627014del | CA334145058 | C1GALT1C1 | c.154_158del (p.Ile52GlufsTer6) | dbSNP |
| X | g.120627010A>C | CA414210198 | C1GALT1C1 | c.157T>G (p.Leu53Val) | |
| X | g.120627010A>G | CA518448484 | C1GALT1C1 | c.157T>C (p.Leu53=) | |
| X | g.120627010A>T | CA414210201 | C1GALT1C1 | c.157T>A (p.Leu53Met) | |
| X | g.120627011G>A | CA518448485 | C1GALT1C1 | c.156C>T (p.Ile52=) | |
| X | g.120627011G>C | CA414210203 | C1GALT1C1 | c.156C>G (p.Ile52Met) | gnomAD v4 |
| X | g.120627011G>T | CA518448486 | C1GALT1C1 | c.156C>A (p.Ile52=) | |
| X | g.120627012A= | CA2454930963 | C1GALT1C1 | c.155T= (p.Ile52=) | |
| X | g.120627012A>C | CA414210208 | C1GALT1C1 | c.155T>G (p.Ile52Ser) | |
| X | g.120627012A>G | CA10505992 | C1GALT1C1 | c.155T>C (p.Ile52Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120627012A>T | CA414210206 | C1GALT1C1 | c.155T>A (p.Ile52Asn) | |
| X | g.120627013T>A | CA414210212 | C1GALT1C1 | c.154A>T (p.Ile52Phe) | |
| X | g.120627013T>C | CA414210214 | C1GALT1C1 | c.154A>G (p.Ile52Val) | gnomAD v4 |
| X | g.120627013T>G | CA414210215 | C1GALT1C1 | c.154A>C (p.Ile52Leu) | |
| X | g.120627014A>C | CA414210217 | C1GALT1C1 | c.153T>G (p.Asp51Glu) | |
| X | g.120627014A>G | CA518448487 | C1GALT1C1 | c.153T>C (p.Asp51=) | |
| X | g.120627014A>T | CA414210219 | C1GALT1C1 | c.153T>A (p.Asp51Glu) | |
| X | g.120627015T>A | CA414210222 | C1GALT1C1 | c.152A>T (p.Asp51Val) | |
| X | g.120627015T>C | CA10505993 | C1GALT1C1 | c.152A>G (p.Asp51Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120627015T>G | CA414210223 | C1GALT1C1 | c.152A>C (p.Asp51Ala) | |
| X | g.120627015T= | CA2454930964 | C1GALT1C1 | c.152A= (p.Asp51=) | |
| X | g.120627016C>A | CA414210225 | C1GALT1C1 | c.151G>T (p.Asp51Tyr) | |
| X | g.120627016C>G | CA414210226 | C1GALT1C1 | c.151G>C (p.Asp51His) | gnomAD v4 |
| X | g.120627016C>T | CA414210227 | C1GALT1C1 | c.151G>A (p.Asp51Asn) | |
| X | g.120627017T>A | CA414210229 | C1GALT1C1 | c.150A>T (p.Glu50Asp) | |
| X | g.120627017T>C | CA518448491 | C1GALT1C1 | c.150A>G (p.Glu50=) | |
| X | g.120627017T>G | CA414210231 | C1GALT1C1 | c.150A>C (p.Glu50Asp) | |
| X | g.120627018T>A | CA414210235 | C1GALT1C1 | c.149A>T (p.Glu50Val) | |
| X | g.120627018T>C | CA414210237 | C1GALT1C1 | c.149A>G (p.Glu50Gly) | |
| X | g.120627018T>G | CA414210234 | C1GALT1C1 | c.149A>C (p.Glu50Ala) | |
| X | g.120627019C>A | CA414210245 | C1GALT1C1 | c.148G>T (p.Glu50Ter) | COSMIC |
| X | g.120627019C>G | CA414210241 | C1GALT1C1 | c.148G>C (p.Glu50Gln) | |
| X | g.120627019C>T | CA414210243 | C1GALT1C1 | c.148G>A (p.Glu50Lys) | COSMIC |
| X | g.120627020T>A | CA414210247 | C1GALT1C1 | c.147A>T (p.Lys49Asn) | |
| X | g.120627020T>C | CA518448492 | C1GALT1C1 | c.147A>G (p.Lys49=) | gnomAD v4 |
| X | g.120627020T>G | CA414210248 | C1GALT1C1 | c.147A>C (p.Lys49Asn) | |
| X | g.120627021T>A | CA414210252 | C1GALT1C1 | c.146A>T (p.Lys49Ile) | |
| X | g.120627021T>C | CA414210253 | C1GALT1C1 | c.146A>G (p.Lys49Arg) | |
| X | g.120627021T>G | CA414210256 | C1GALT1C1 | c.146A>C (p.Lys49Thr) | gnomAD v4 |
| X | g.120627022T>A | CA414210258 | C1GALT1C1 | c.145A>T (p.Lys49Ter) | |
| X | g.120627022T>C | CA414210260 | C1GALT1C1 | c.145A>G (p.Lys49Glu) | |
| X | g.120627022T>G | CA414210263 | C1GALT1C1 | c.145A>C (p.Lys49Gln) | |
| X | g.120627023G>A | CA518448495 | C1GALT1C1 | c.144C>T (p.Asn48=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120627023G>C | CA414210266 | C1GALT1C1 | c.144C>G (p.Asn48Lys) | |
| X | g.120627023G= | CA2454930966 | C1GALT1C1 | c.144C= (p.Asn48=) | |
| X | g.120627023G>T | CA414210268 | C1GALT1C1 | c.144C>A (p.Asn48Lys) | |
| X | g.120627024T>A | CA414210273 | C1GALT1C1 | c.143A>T (p.Asn48Ile) | |
| X | g.120627024T>C | CA414210276 | C1GALT1C1 | c.143A>G (p.Asn48Ser) | |
| X | g.120627024T>G | CA414210272 | C1GALT1C1 | c.143A>C (p.Asn48Thr) | |
| X | g.120627025T>A | CA414210278 | C1GALT1C1 | c.142A>T (p.Asn48Tyr) | |
| X | g.120627025T>C | CA414210279 | C1GALT1C1 | c.142A>G (p.Asn48Asp) | |
| X | g.120627025T>G | CA414210282 | C1GALT1C1 | c.142A>C (p.Asn48His) | |
| X | g.120627026A= | CA2454930967 | C1GALT1C1 | c.141T= (p.Pro47=) | |
| X | g.120627026A>C | CA518448496 | C1GALT1C1 | c.141T>G (p.Pro47=) | |
| X | g.120627026A>G | CA518448497 | C1GALT1C1 | c.141T>C (p.Pro47=) | |
| X | g.120627026A>T | CA10505994 | C1GALT1C1 | c.141T>A (p.Pro47=) | dbSNP ExAC gnomAD v2 |
| X | g.120627027G>A | CA414210291 | C1GALT1C1 | c.140C>T (p.Pro47Leu) | |
| X | g.120627027G>C | CA414210288 | C1GALT1C1 | c.140C>G (p.Pro47Arg) | |
| X | g.120627027G>T | CA414210286 | C1GALT1C1 | c.140C>A (p.Pro47His) | |
| X | g.120627028G>A | CA10505995 | C1GALT1C1 | c.139C>T (p.Pro47Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120627028G>C | CA414210295 | C1GALT1C1 | c.139C>G (p.Pro47Ala) | |
| X | g.120627028G= | CA2454930969 | C1GALT1C1 | c.139C= (p.Pro47=) | |
| X | g.120627028G>T | CA414210297 | C1GALT1C1 | c.139C>A (p.Pro47Thr) | |
| X | g.120627029A>C | CA518448499 | C1GALT1C1 | c.138T>G (p.Ala46=) | |
| X | g.120627029A>G | CA518448500 | C1GALT1C1 | c.138T>C (p.Ala46=) | |
| X | g.120627029A>T | CA518448501 | C1GALT1C1 | c.138T>A (p.Ala46=) | |
| X | g.120627030G>A | CA414210300 | C1GALT1C1 | c.137C>T (p.Ala46Val) | |
| X | g.120627030G>C | CA414210302 | C1GALT1C1 | c.137C>G (p.Ala46Gly) | |
| X | g.120627030G>T | CA414210304 | C1GALT1C1 | c.137C>A (p.Ala46Asp) | |
| X | g.120627031C>A | CA414210308 | C1GALT1C1 | c.136G>T (p.Ala46Ser) | |
| X | g.120627031C= | CA2454930971 | C1GALT1C1 | c.136G= (p.Ala46=) | |
| X | g.120627031C>G | CA414210307 | C1GALT1C1 | c.136G>C (p.Ala46Pro) | gnomAD v4 |
| X | g.120627031C>T | CA10505996 | C1GALT1C1 | c.136G>A (p.Ala46Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120627032T>A | CA414210310 | C1GALT1C1 | c.135A>T (p.Gln45His) | |
| X | g.120627032T>C | CA10505997 | C1GALT1C1 | c.135A>G (p.Gln45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120627032T>G | CA414210314 | C1GALT1C1 | c.135A>C (p.Gln45His) | |
| X | g.120627032T= | CA2454930972 | C1GALT1C1 | c.135A= (p.Gln45=) | |
| X | g.120627033T>A | CA414210318 | C1GALT1C1 | c.134A>T (p.Gln45Leu) | |
| X | g.120627033T>C | CA414210321 | C1GALT1C1 | c.134A>G (p.Gln45Arg) | |
| X | g.120627033T>G | CA414210322 | C1GALT1C1 | c.134A>C (p.Gln45Pro) | |
| X | g.120627034G>A | CA414210326 | C1GALT1C1 | c.133C>T (p.Gln45Ter) | |
| X | g.120627034G>C | CA414210329 | C1GALT1C1 | c.133C>G (p.Gln45Glu) | |
| X | g.120627034G>T | CA414210331 | C1GALT1C1 | c.133C>A (p.Gln45Lys) |