Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51138942G>A | CA395880962 | SALL1 | c.3280C>T (p.His1094Tyr) c.2989C>T (p.His997Tyr) c.77-1390C>T (n.77-1390C>T) | |
16 | g.51138942G>C | CA395880958 | SALL1 | c.3280C>G (p.His1094Asp) c.2989C>G (p.His997Asp) c.77-1390C>G (n.77-1390C>G) | |
16 | g.51138942G>T | CA395880960 | SALL1 | c.3280C>A (p.His1094Asn) c.2989C>A (p.His997Asn) c.77-1390C>A (n.77-1390C>A) | |
16 | g.51138943C>A | CA495779903 | SALL1 | c.3279G>T (p.Val1093=) c.2988G>T (p.Val996=) c.77-1391G>T (n.77-1391G>T) | |
16 | g.51138943C>G | CA495779904 | SALL1 | c.3279G>C (p.Val1093=) c.2988G>C (p.Val996=) c.77-1391G>C (n.77-1391G>C) | |
16 | g.51138943C>T | CA495779905 | SALL1 | c.3279G>A (p.Val1093=) c.2988G>A (p.Val996=) c.77-1391G>A (n.77-1391G>A) | |
16 | g.51138944A= | CA2222017067 | SALL1 | c.3278T= (p.Val1093=) c.2987T= (p.Val996=) c.77-1392T= (n.77-1392T=) | |
16 | g.51138944A>C | CA281300707 | SALL1 | c.3278T>G (p.Val1093Gly) c.2987T>G (p.Val996Gly) c.77-1392T>G (n.77-1392T>G) | dbSNP gnomAD v4 |
16 | g.51138944A>G | CA395880965 | SALL1 | c.3278T>C (p.Val1093Ala) c.2987T>C (p.Val996Ala) c.77-1392T>C (n.77-1392T>C) | dbSNP |
16 | g.51138944A>T | CA395880967 | SALL1 | c.3278T>A (p.Val1093Glu) c.2987T>A (p.Val996Glu) c.77-1392T>A (n.77-1392T>A) | |
16 | g.51138945C>A | CA395880969 | SALL1 | c.3277G>T (p.Val1093Leu) c.2986G>T (p.Val996Leu) c.77-1393G>T (n.77-1393G>T) | gnomAD v4 |
16 | g.51138945C= | CA2222017072 | SALL1 | c.3277G= (p.Val1093=) c.2986G= (p.Val996=) c.77-1393G= (n.77-1393G=) | |
16 | g.51138945C>G | CA395880970 | SALL1 | c.3277G>C (p.Val1093Leu) c.2986G>C (p.Val996Leu) c.77-1393G>C (n.77-1393G>C) | dbSNP COSMIC |
16 | g.51138945C>T | CA8052960 | SALL1 | c.3277G>A (p.Val1093Met) c.2986G>A (p.Val996Met) c.77-1393G>A (n.77-1393G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138946G>A | CA8052961 | SALL1 | c.3276C>T (p.Phe1092=) c.2985C>T (p.Phe995=) c.77-1394C>T (n.77-1394C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.51138946G>C | CA395880974 | SALL1 | c.3276C>G (p.Phe1092Leu) c.2985C>G (p.Phe995Leu) c.77-1394C>G (n.77-1394C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51138946G= | CA2222017079 | SALL1 | c.3276C= (p.Phe1092=) c.2985C= (p.Phe995=) c.77-1394C= (n.77-1394C=) | |
16 | g.51138946G>T | CA8052962 | SALL1 | c.3276C>A (p.Phe1092Leu) c.2985C>A (p.Phe995Leu) c.77-1394C>A (n.77-1394C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138947A>C | CA395880979 | SALL1 | c.3275T>G (p.Phe1092Cys) c.2984T>G (p.Phe995Cys) c.77-1395T>G (n.77-1395T>G) | COSMIC |
16 | g.51138947A>G | CA395880981 | SALL1 | c.3275T>C (p.Phe1092Ser) c.2984T>C (p.Phe995Ser) c.77-1395T>C (n.77-1395T>C) | |
16 | g.51138947A>T | CA395880984 | SALL1 | c.3275T>A (p.Phe1092Tyr) c.2984T>A (p.Phe995Tyr) c.77-1395T>A (n.77-1395T>A) | |
16 | g.51138948A>C | CA395880989 | SALL1 | c.3274T>G (p.Phe1092Val) c.2983T>G (p.Phe995Val) c.77-1396T>G (n.77-1396T>G) | |
16 | g.51138948A>G | CA395880993 | SALL1 | c.3274T>C (p.Phe1092Leu) c.2983T>C (p.Phe995Leu) c.77-1396T>C (n.77-1396T>C) | |
16 | g.51138948A>T | CA395880991 | SALL1 | c.3274T>A (p.Phe1092Ile) c.2983T>A (p.Phe995Ile) c.77-1396T>A (n.77-1396T>A) | |
16 | g.51138949G>A | CA495779912 | SALL1 | c.3273C>T (p.Gly1091=) c.2982C>T (p.Gly994=) c.77-1397C>T (n.77-1397C>T) | gnomAD v4 |
16 | g.51138949G>C | CA495779915 | SALL1 | c.3273C>G (p.Gly1091=) c.2982C>G (p.Gly994=) c.77-1397C>G (n.77-1397C>G) | |
16 | g.51138949G>T | CA495779917 | SALL1 | c.3273C>A (p.Gly1091=) c.2982C>A (p.Gly994=) c.77-1397C>A (n.77-1397C>A) | |
16 | g.51138950C>A | CA395880995 | SALL1 | c.3272G>T (p.Gly1091Val) c.2981G>T (p.Gly994Val) c.77-1398G>T (n.77-1398G>T) | |
16 | g.51138950C>G | CA395881005 | SALL1 | c.3272G>C (p.Gly1091Ala) c.2981G>C (p.Gly994Ala) c.77-1398G>C (n.77-1398G>C) | |
16 | g.51138950C>T | CA395881007 | SALL1 | c.3272G>A (p.Gly1091Asp) c.2981G>A (p.Gly994Asp) c.77-1398G>A (n.77-1398G>A) | |
16 | g.51138951C>A | CA395881009 | SALL1 | c.3271G>T (p.Gly1091Cys) c.2980G>T (p.Gly994Cys) c.77-1399G>T (n.77-1399G>T) | |
16 | g.51138951C= | CA2222017087 | SALL1 | c.3271G= (p.Gly1091=) c.2980G= (p.Gly994=) c.77-1399G= (n.77-1399G=) | |
16 | g.51138951C>G | CA395881011 | SALL1 | c.3271G>C (p.Gly1091Arg) c.2980G>C (p.Gly994Arg) c.77-1399G>C (n.77-1399G>C) | |
16 | g.51138951C>T | CA8052963 | SALL1 | c.3271G>A (p.Gly1091Ser) c.2980G>A (p.Gly994Ser) c.77-1399G>A (n.77-1399G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138952G>A | CA8052964 | SALL1 | c.3270C>T (p.Asn1090=) c.2979C>T (p.Asn993=) c.77-1400C>T (n.77-1400C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51138952G>C | CA395881019 | SALL1 | c.3270C>G (p.Asn1090Lys) c.2979C>G (p.Asn993Lys) c.77-1400C>G (n.77-1400C>G) | |
16 | g.51138952G= | CA2222017091 | SALL1 | c.3270C= (p.Asn1090=) c.2979C= (p.Asn993=) c.77-1400C= (n.77-1400C=) | |
16 | g.51138952G>T | CA395881021 | SALL1 | c.3270C>A (p.Asn1090Lys) c.2979C>A (p.Asn993Lys) c.77-1400C>A (n.77-1400C>A) | |
16 | g.51138953T>A | CA395881022 | SALL1 | c.3269A>T (p.Asn1090Ile) c.2978A>T (p.Asn993Ile) c.77-1401A>T (n.77-1401A>T) | |
16 | g.51138953T>C | CA8052965 | SALL1 | c.3269A>G (p.Asn1090Ser) c.2978A>G (p.Asn993Ser) c.77-1401A>G (n.77-1401A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138953T>G | CA395881023 | SALL1 | c.3269A>C (p.Asn1090Thr) c.2978A>C (p.Asn993Thr) c.77-1401A>C (n.77-1401A>C) | |
16 | g.51138953T= | CA2222017096 | SALL1 | c.3269A= (p.Asn1090=) c.2978A= (p.Asn993=) c.77-1401A= (n.77-1401A=) | |
16 | g.51138954T>A | CA395881026 | SALL1 | c.3268A>T (p.Asn1090Tyr) c.2977A>T (p.Asn993Tyr) c.77-1402A>T (n.77-1402A>T) | |
16 | g.51138954T>C | CA395881024 | SALL1 | c.3268A>G (p.Asn1090Asp) c.2977A>G (p.Asn993Asp) c.77-1402A>G (n.77-1402A>G) | gnomAD v4 |
16 | g.51138954T>G | CA8052966 | SALL1 | c.3268A>C (p.Asn1090His) c.2977A>C (p.Asn993His) c.77-1402A>C (n.77-1402A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138954T= | CA2222017099 | SALL1 | c.3268A= (p.Asn1090=) c.2977A= (p.Asn993=) c.77-1402A= (n.77-1402A=) | |
16 | g.51138955G>A | CA495779922 | SALL1 | c.3267C>T (p.Val1089=) c.2976C>T (p.Val992=) c.77-1403C>T (n.77-1403C>T) | dbSNP |
16 | g.51138955G>C | CA495779924 | SALL1 | c.3267C>G (p.Val1089=) c.2976C>G (p.Val992=) c.77-1403C>G (n.77-1403C>G) | |
16 | g.51138955G= | CA2222017103 | SALL1 | c.3267C= (p.Val1089=) c.2976C= (p.Val992=) c.77-1403C= (n.77-1403C=) | |
16 | g.51138955G>T | CA495779925 | SALL1 | c.3267C>A (p.Val1089=) c.2976C>A (p.Val992=) c.77-1403C>A (n.77-1403C>A) |