| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51139106G>A | CA281300833 | SALL1 | c.3116C>T (p.Ser1039Phe) c.2825C>T (p.Ser942Phe) c.77-1554C>T (n.77-1554C>T) | dbSNP COSMIC |
| 16 | g.51139106G>C | CA395881878 | SALL1 | c.3116C>G (p.Ser1039Cys) c.2825C>G (p.Ser942Cys) c.77-1554C>G (n.77-1554C>G) | |
| 16 | g.51139106G= | CA2222017423 | SALL1 | c.3116C= (p.Ser1039=) c.2825C= (p.Ser942=) c.77-1554C= (n.77-1554C=) | |
| 16 | g.51139106G>T | CA395881879 | SALL1 | c.3116C>A (p.Ser1039Tyr) c.2825C>A (p.Ser942Tyr) c.77-1554C>A (n.77-1554C>A) | |
| 16 | g.51139107A>C | CA395881883 | SALL1 | c.3115T>G (p.Ser1039Ala) c.2824T>G (p.Ser942Ala) c.77-1555T>G (n.77-1555T>G) | |
| 16 | g.51139107A>G | CA395881884 | SALL1 | c.3115T>C (p.Ser1039Pro) c.2824T>C (p.Ser942Pro) c.77-1555T>C (n.77-1555T>C) | |
| 16 | g.51139107A>T | CA395881886 | SALL1 | c.3115T>A (p.Ser1039Thr) c.2824T>A (p.Ser942Thr) c.77-1555T>A (n.77-1555T>A) | |
| 16 | g.51139108A>C | CA395881897 | SALL1 | c.3114T>G (p.Phe1038Leu) c.2823T>G (p.Phe941Leu) c.77-1556T>G (n.77-1556T>G) | |
| 16 | g.51139108A>G | CA495779946 | SALL1 | c.3114T>C (p.Phe1038=) c.2823T>C (p.Phe941=) c.77-1556T>C (n.77-1556T>C) | |
| 16 | g.51139108A>T | CA395881887 | SALL1 | c.3114T>A (p.Phe1038Leu) c.2823T>A (p.Phe941Leu) c.77-1556T>A (n.77-1556T>A) | |
| 16 | g.51139109A>C | CA395881898 | SALL1 | c.3113T>G (p.Phe1038Cys) c.2822T>G (p.Phe941Cys) c.77-1557T>G (n.77-1557T>G) | |
| 16 | g.51139109A>G | CA395881899 | SALL1 | c.3113T>C (p.Phe1038Ser) c.2822T>C (p.Phe941Ser) c.77-1557T>C (n.77-1557T>C) | |
| 16 | g.51139109A>T | CA395881900 | SALL1 | c.3113T>A (p.Phe1038Tyr) c.2822T>A (p.Phe941Tyr) c.77-1557T>A (n.77-1557T>A) | |
| 16 | g.51139110A>C | CA395881902 | SALL1 | c.3112T>G (p.Phe1038Val) c.2821T>G (p.Phe941Val) c.77-1558T>G (n.77-1558T>G) | |
| 16 | g.51139110A>G | CA395881903 | SALL1 | c.3112T>C (p.Phe1038Leu) c.2821T>C (p.Phe941Leu) c.77-1558T>C (n.77-1558T>C) | |
| 16 | g.51139110A>T | CA395881905 | SALL1 | c.3112T>A (p.Phe1038Ile) c.2821T>A (p.Phe941Ile) c.77-1558T>A (n.77-1558T>A) | |
| 16 | g.51139111G>A | CA495779951 | SALL1 | c.3111C>T (p.Gly1037=) c.2820C>T (p.Gly940=) c.77-1559C>T (n.77-1559C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51139111G>C | CA495779953 | SALL1 | c.3111C>G (p.Gly1037=) c.2820C>G (p.Gly940=) c.77-1559C>G (n.77-1559C>G) | |
| 16 | g.51139111G= | CA2222017425 | SALL1 | c.3111C= (p.Gly1037=) c.2820C= (p.Gly940=) c.77-1559C= (n.77-1559C=) | |
| 16 | g.51139111G>T | CA495779952 | SALL1 | c.3111C>A (p.Gly1037=) c.2820C>A (p.Gly940=) c.77-1559C>A (n.77-1559C>A) | |
| 16 | g.51139112C>A | CA395881909 | SALL1 | c.3110G>T (p.Gly1037Val) c.2819G>T (p.Gly940Val) c.77-1560G>T (n.77-1560G>T) | |
| 16 | g.51139112C>G | CA395881908 | SALL1 | c.3110G>C (p.Gly1037Ala) c.2819G>C (p.Gly940Ala) c.77-1560G>C (n.77-1560G>C) | |
| 16 | g.51139112C>T | CA395881907 | SALL1 | c.3110G>A (p.Gly1037Asp) c.2819G>A (p.Gly940Asp) c.77-1560G>A (n.77-1560G>A) | |
| 16 | g.51139113C>A | CA395881910 | SALL1 | c.3109G>T (p.Gly1037Cys) c.2818G>T (p.Gly940Cys) c.77-1561G>T (n.77-1561G>T) | |
| 16 | g.51139113C>G | CA395881911 | SALL1 | c.3109G>C (p.Gly1037Arg) c.2818G>C (p.Gly940Arg) c.77-1561G>C (n.77-1561G>C) | |
| 16 | g.51139113C>T | CA395881912 | SALL1 | c.3109G>A (p.Gly1037Ser) c.2818G>A (p.Gly940Ser) c.77-1561G>A (n.77-1561G>A) | |
| 16 | g.51139114A>C | CA495779957 | SALL1 | c.3108T>G (p.Arg1036=) c.2817T>G (p.Arg939=) c.77-1562T>G (n.77-1562T>G) | |
| 16 | g.51139114A>G | CA495779959 | SALL1 | c.3108T>C (p.Arg1036=) c.2817T>C (p.Arg939=) c.77-1562T>C (n.77-1562T>C) | |
| 16 | g.51139114A>T | CA495779960 | SALL1 | c.3108T>A (p.Arg1036=) c.2817T>A (p.Arg939=) c.77-1562T>A (n.77-1562T>A) | |
| 16 | g.51139115C>A | CA395881913 | SALL1 | c.3107G>T (p.Arg1036Leu) c.2816G>T (p.Arg939Leu) c.77-1563G>T (n.77-1563G>T) | |
| 16 | g.51139115C= | CA2222017431 | SALL1 | c.3107G= (p.Arg1036=) c.2816G= (p.Arg939=) c.77-1563G= (n.77-1563G=) | |
| 16 | g.51139115C>G | CA395881914 | SALL1 | c.3107G>C (p.Arg1036Pro) c.2816G>C (p.Arg939Pro) c.77-1563G>C (n.77-1563G>C) | gnomAD v4 |
| 16 | g.51139115C>T | CA395881915 | SALL1 | c.3107G>A (p.Arg1036His) c.2816G>A (p.Arg939His) c.77-1563G>A (n.77-1563G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51139116G>A | CA8052986 | SALL1 | c.3106C>T (p.Arg1036Cys) c.2815C>T (p.Arg939Cys) c.77-1564C>T (n.77-1564C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.51139116G>C | CA395881921 | SALL1 | c.3106C>G (p.Arg1036Gly) c.2815C>G (p.Arg939Gly) c.77-1564C>G (n.77-1564C>G) | |
| 16 | g.51139116G= | CA2222017437 | SALL1 | c.3106C= (p.Arg1036=) c.2815C= (p.Arg939=) c.77-1564C= (n.77-1564C=) | |
| 16 | g.51139116G>T | CA395881919 | SALL1 | c.3106C>A (p.Arg1036Ser) c.2815C>A (p.Arg939Ser) c.77-1564C>A (n.77-1564C>A) | |
| 16 | g.51139117A>C | CA395881923 | SALL1 | c.3105T>G (p.Asn1035Lys) c.2814T>G (p.Asn938Lys) c.77-1565T>G (n.77-1565T>G) | |
| 16 | g.51139117A>G | CA495779964 | SALL1 | c.3105T>C (p.Asn1035=) c.2814T>C (p.Asn938=) c.77-1565T>C (n.77-1565T>C) | gnomAD v4 |
| 16 | g.51139117A>T | CA395881927 | SALL1 | c.3105T>A (p.Asn1035Lys) c.2814T>A (p.Asn938Lys) c.77-1565T>A (n.77-1565T>A) | |
| 16 | g.51139118_51139124dup | CA10603534 | SALL1 | c.3099_3105dup (p.Arg1036LeufsTer10) c.2808_2814dup (p.Arg939LeufsTer10) c.77-1571_77-1565dup (n.77-1571_77-1565dup) | ClinVar dbSNP |
| 16 | g.51139118T>A | CA395881930 | SALL1 | c.3104A>T (p.Asn1035Ile) c.2813A>T (p.Asn938Ile) c.77-1566A>T (n.77-1566A>T) | gnomAD v4 |
| 16 | g.51139118T>C | CA281300836 | SALL1 | c.3104A>G (p.Asn1035Ser) c.2813A>G (p.Asn938Ser) c.77-1566A>G (n.77-1566A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139118T>G | CA395881932 | SALL1 | c.3104A>C (p.Asn1035Thr) c.2813A>C (p.Asn938Thr) c.77-1566A>C (n.77-1566A>C) | |
| 16 | g.51139118T= | CA2222017450 | SALL1 | c.3104A= (p.Asn1035=) c.2813A= (p.Asn938=) c.77-1566A= (n.77-1566A=) | |
| 16 | g.51139119T>A | CA395881933 | SALL1 | c.3103A>T (p.Asn1035Tyr) c.2812A>T (p.Asn938Tyr) c.77-1567A>T (n.77-1567A>T) | |
| 16 | g.51139119T>C | CA395881934 | SALL1 | c.3103A>G (p.Asn1035Asp) c.2812A>G (p.Asn938Asp) c.77-1567A>G (n.77-1567A>G) | |
| 16 | g.51139119T>G | CA395881935 | SALL1 | c.3103A>C (p.Asn1035His) c.2812A>C (p.Asn938His) c.77-1567A>C (n.77-1567A>C) | |
| 16 | g.51139120G>A | CA495779969 | SALL1 | c.3102C>T (p.Cys1034=) c.2811C>T (p.Cys937=) c.77-1568C>T (n.77-1568C>T) | |
| 16 | g.51139120G>C | CA395881937 | SALL1 | c.3102C>G (p.Cys1034Trp) c.2811C>G (p.Cys937Trp) c.77-1568C>G (n.77-1568C>G) | |
| 16 | g.51139120G>T | CA395881938 | SALL1 | c.3102C>A (p.Cys1034Ter) c.2811C>A (p.Cys937Ter) c.77-1568C>A (n.77-1568C>A) | |
| 16 | g.51139121C>A | CA395881941 | SALL1 | c.3101G>T (p.Cys1034Phe) c.2810G>T (p.Cys937Phe) c.77-1569G>T (n.77-1569G>T) | |
| 16 | g.51139121C>G | CA395881940 | SALL1 | c.3101G>C (p.Cys1034Ser) c.2810G>C (p.Cys937Ser) c.77-1569G>C (n.77-1569G>C) | |
| 16 | g.51139121C>T | CA395881939 | SALL1 | c.3101G>A (p.Cys1034Tyr) c.2810G>A (p.Cys937Tyr) c.77-1569G>A (n.77-1569G>A) | |
| 16 | g.51139122A>C | CA395881942 | SALL1 | c.3100T>G (p.Cys1034Gly) c.2809T>G (p.Cys937Gly) c.77-1570T>G (n.77-1570T>G) | |
| 16 | g.51139122A>G | CA395881945 | SALL1 | c.3100T>C (p.Cys1034Arg) c.2809T>C (p.Cys937Arg) c.77-1570T>C (n.77-1570T>C) | |
| 16 | g.51139122A>T | CA395881943 | SALL1 | c.3100T>A (p.Cys1034Ser) c.2809T>A (p.Cys937Ser) c.77-1570T>A (n.77-1570T>A) | |
| 16 | g.51139123A>C | CA495779972 | SALL1 | c.3099T>G (p.Val1033=) c.2808T>G (p.Val936=) c.77-1571T>G (n.77-1571T>G) | |
| 16 | g.51139123A>G | CA495779976 | SALL1 | c.3099T>C (p.Val1033=) c.2808T>C (p.Val936=) c.77-1571T>C (n.77-1571T>C) | |
| 16 | g.51139123A>T | CA495779974 | SALL1 | c.3099T>A (p.Val1033=) c.2808T>A (p.Val936=) c.77-1571T>A (n.77-1571T>A) | |
| 16 | g.51139124A>C | CA395881949 | SALL1 | c.3098T>G (p.Val1033Gly) c.2807T>G (p.Val936Gly) c.77-1572T>G (n.77-1572T>G) | |
| 16 | g.51139124A>G | CA395881950 | SALL1 | c.3098T>C (p.Val1033Ala) c.2807T>C (p.Val936Ala) c.77-1572T>C (n.77-1572T>C) | |
| 16 | g.51139124A>T | CA395881954 | SALL1 | c.3098T>A (p.Val1033Asp) c.2807T>A (p.Val936Asp) c.77-1572T>A (n.77-1572T>A) | |
| 16 | g.51139125C>A | CA395881955 | SALL1 | c.3097G>T (p.Val1033Phe) c.2806G>T (p.Val936Phe) c.77-1573G>T (n.77-1573G>T) | |
| 16 | g.51139125C>G | CA395881956 | SALL1 | c.3097G>C (p.Val1033Leu) c.2806G>C (p.Val936Leu) c.77-1573G>C (n.77-1573G>C) | |
| 16 | g.51139125C>T | CA395881957 | SALL1 | c.3097G>A (p.Val1033Ile) c.2806G>A (p.Val936Ile) c.77-1573G>A (n.77-1573G>A) | |
| 16 | g.51139126T>A | CA495779980 | SALL1 | c.3096A>T (p.Thr1032=) c.2805A>T (p.Thr935=) c.77-1574A>T (n.77-1574A>T) | |
| 16 | g.51139126T>C | CA495779981 | SALL1 | c.3096A>G (p.Thr1032=) c.2805A>G (p.Thr935=) c.77-1574A>G (n.77-1574A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51139126T>G | CA495779982 | SALL1 | c.3096A>C (p.Thr1032=) c.2805A>C (p.Thr935=) c.77-1574A>C (n.77-1574A>C) | |
| 16 | g.51139126T= | CA2222017456 | SALL1 | c.3096A= (p.Thr1032=) c.2805A= (p.Thr935=) c.77-1574A= (n.77-1574A=) | |
| 16 | g.51139128_51139129del | CA2695223342 | SALL1 | c.3095_3096del (p.Thr1032SerfsTer11) c.2804_2805del (p.Thr935SerfsTer11) c.77-1575_77-1574del (n.77-1575_77-1574del) | |
| 16 | g.51139127G>A | CA8052987 | SALL1 | c.3095C>T (p.Thr1032Ile) c.2804C>T (p.Thr935Ile) c.77-1575C>T (n.77-1575C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51139127G>C | CA395881958 | SALL1 | c.3095C>G (p.Thr1032Arg) c.2804C>G (p.Thr935Arg) c.77-1575C>G (n.77-1575C>G) | |
| 16 | g.51139127G= | CA2222017464 | SALL1 | c.3095C= (p.Thr1032=) c.2804C= (p.Thr935=) c.77-1575C= (n.77-1575C=) | |
| 16 | g.51139127G>T | CA395881959 | SALL1 | c.3095C>A (p.Thr1032Lys) c.2804C>A (p.Thr935Lys) c.77-1575C>A (n.77-1575C>A) | |
| 16 | g.51139128T>A | CA395881960 | SALL1 | c.3094A>T (p.Thr1032Ser) c.2803A>T (p.Thr935Ser) c.77-1576A>T (n.77-1576A>T) | |
| 16 | g.51139128T>C | CA395881961 | SALL1 | c.3094A>G (p.Thr1032Ala) c.2803A>G (p.Thr935Ala) c.77-1576A>G (n.77-1576A>G) | |
| 16 | g.51139128T>G | CA395881962 | SALL1 | c.3094A>C (p.Thr1032Pro) c.2803A>C (p.Thr935Pro) c.77-1576A>C (n.77-1576A>C) | |
| 16 | g.51139129G>A | CA495779986 | SALL1 | c.3093C>T (p.Cys1031=) c.2802C>T (p.Cys934=) c.77-1577C>T (n.77-1577C>T) | |
| 16 | g.51139129G>C | CA395881964 | SALL1 | c.3093C>G (p.Cys1031Trp) c.2802C>G (p.Cys934Trp) c.77-1577C>G (n.77-1577C>G) | |
| 16 | g.51139129G>T | CA395881963 | SALL1 | c.3093C>A (p.Cys1031Ter) c.2802C>A (p.Cys934Ter) c.77-1577C>A (n.77-1577C>A) | |
| 16 | g.51139130C>A | CA395881965 | SALL1 | c.3092G>T (p.Cys1031Phe) c.2801G>T (p.Cys934Phe) c.77-1578G>T (n.77-1578G>T) | gnomAD v4 |
| 16 | g.51139130C>G | CA395881966 | SALL1 | c.3092G>C (p.Cys1031Ser) c.2801G>C (p.Cys934Ser) c.77-1578G>C (n.77-1578G>C) | |
| 16 | g.51139130C>T | CA395881967 | SALL1 | c.3092G>A (p.Cys1031Tyr) c.2801G>A (p.Cys934Tyr) c.77-1578G>A (n.77-1578G>A) | gnomAD v4 |
| 16 | g.51139131A= | CA2222017469 | SALL1 | c.3091T= (p.Cys1031=) c.2800T= (p.Cys934=) c.77-1579T= (n.77-1579T=) | |
| 16 | g.51139131A>C | CA395881968 | SALL1 | c.3091T>G (p.Cys1031Gly) c.2800T>G (p.Cys934Gly) c.77-1579T>G (n.77-1579T>G) | |
| 16 | g.51139131A>G | CA395881969 | SALL1 | c.3091T>C (p.Cys1031Arg) c.2800T>C (p.Cys934Arg) c.77-1579T>C (n.77-1579T>C) | dbSNP |
| 16 | g.51139131A>T | CA395881970 | SALL1 | c.3091T>A (p.Cys1031Ser) c.2800T>A (p.Cys934Ser) c.77-1579T>A (n.77-1579T>A) | |
| 16 | g.51139133del | CA2582342995 | SALL1 | c.3091del (p.Cys1031AlafsTer14) c.2800del (p.Cys934AlafsTer14) c.77-1579del (n.77-1579del) | |
| 16 | g.51139132A= | CA2222017470 | SALL1 | c.3090T= (p.Ile1030=) c.2799T= (p.Ile933=) c.77-1580T= (n.77-1580T=) | |
| 16 | g.51139132A>C | CA395881971 | SALL1 | c.3090T>G (p.Ile1030Met) c.2799T>G (p.Ile933Met) c.77-1580T>G (n.77-1580T>G) | |
| 16 | g.51139132A>G | CA495779989 | SALL1 | c.3090T>C (p.Ile1030=) c.2799T>C (p.Ile933=) c.77-1580T>C (n.77-1580T>C) | |
| 16 | g.51139132A>T | CA495779990 | SALL1 | c.3090T>A (p.Ile1030=) c.2799T>A (p.Ile933=) c.77-1580T>A (n.77-1580T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139133A>C | CA395881972 | SALL1 | c.3089T>G (p.Ile1030Ser) c.2798T>G (p.Ile933Ser) c.77-1581T>G (n.77-1581T>G) | |
| 16 | g.51139133A>G | CA395881973 | SALL1 | c.3089T>C (p.Ile1030Thr) c.2798T>C (p.Ile933Thr) c.77-1581T>C (n.77-1581T>C) | |
| 16 | g.51139133A>T | CA395881974 | SALL1 | c.3089T>A (p.Ile1030Asn) c.2798T>A (p.Ile933Asn) c.77-1581T>A (n.77-1581T>A) | |
| 16 | g.51139134T>A | CA395881975 | SALL1 | c.3088A>T (p.Ile1030Phe) c.2797A>T (p.Ile933Phe) c.77-1582A>T (n.77-1582A>T) | gnomAD v4 |
| 16 | g.51139134T>C | CA395881976 | SALL1 | c.3088A>G (p.Ile1030Val) c.2797A>G (p.Ile933Val) c.77-1582A>G (n.77-1582A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51139134T>G | CA395881977 | SALL1 | c.3088A>C (p.Ile1030Leu) c.2797A>C (p.Ile933Leu) c.77-1582A>C (n.77-1582A>C) | |
| 16 | g.51139134T= | CA2222017473 | SALL1 | c.3088A= (p.Ile1030=) c.2797A= (p.Ile933=) c.77-1582A= (n.77-1582A=) | |
| 16 | g.51139135A>C | CA395881978 | SALL1 | c.3087T>G (p.Phe1029Leu) c.2796T>G (p.Phe932Leu) c.77-1583T>G (n.77-1583T>G) | |
| 16 | g.51139135A>G | CA495779993 | SALL1 | c.3087T>C (p.Phe1029=) c.2796T>C (p.Phe932=) c.77-1583T>C (n.77-1583T>C) | |
| 16 | g.51139135A>T | CA395881979 | SALL1 | c.3087T>A (p.Phe1029Leu) c.2796T>A (p.Phe932Leu) c.77-1583T>A (n.77-1583T>A) | |
| 16 | g.51139136A>C | CA395881980 | SALL1 | c.3086T>G (p.Phe1029Cys) c.2795T>G (p.Phe932Cys) c.77-1584T>G (n.77-1584T>G) | |
| 16 | g.51139136A>G | CA395881981 | SALL1 | c.3086T>C (p.Phe1029Ser) c.2795T>C (p.Phe932Ser) c.77-1584T>C (n.77-1584T>C) | |
| 16 | g.51139136A>T | CA395881982 | SALL1 | c.3086T>A (p.Phe1029Tyr) c.2795T>A (p.Phe932Tyr) c.77-1584T>A (n.77-1584T>A) | |
| 16 | g.51139137A>C | CA395881983 | SALL1 | c.3085T>G (p.Phe1029Val) c.2794T>G (p.Phe932Val) c.77-1585T>G (n.77-1585T>G) | |
| 16 | g.51139137A>G | CA395881984 | SALL1 | c.3085T>C (p.Phe1029Leu) c.2794T>C (p.Phe932Leu) c.77-1585T>C (n.77-1585T>C) | |
| 16 | g.51139137A>T | CA395881986 | SALL1 | c.3085T>A (p.Phe1029Ile) c.2794T>A (p.Phe932Ile) c.77-1585T>A (n.77-1585T>A) | |
| 16 | g.51139138T>A | CA495779997 | SALL1 | c.3084A>T (p.Pro1028=) c.2793A>T (p.Pro931=) c.77-1586A>T (n.77-1586A>T) | |
| 16 | g.51139138T>C | CA8052988 | SALL1 | c.3084A>G (p.Pro1028=) c.2793A>G (p.Pro931=) c.77-1586A>G (n.77-1586A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139138T>G | CA495780000 | SALL1 | c.3084A>C (p.Pro1028=) c.2793A>C (p.Pro931=) c.77-1586A>C (n.77-1586A>C) | |
| 16 | g.51139138T= | CA2222017479 | SALL1 | c.3084A= (p.Pro1028=) c.2793A= (p.Pro931=) c.77-1586A= (n.77-1586A=) | |
| 16 | g.51139139G>A | CA395881988 | SALL1 | c.3083C>T (p.Pro1028Leu) c.2792C>T (p.Pro931Leu) c.77-1587C>T (n.77-1587C>T) | |
| 16 | g.51139139G>C | CA395881989 | SALL1 | c.3083C>G (p.Pro1028Arg) c.2792C>G (p.Pro931Arg) c.77-1587C>G (n.77-1587C>G) | |
| 16 | g.51139139G>T | CA395881990 | SALL1 | c.3083C>A (p.Pro1028Gln) c.2792C>A (p.Pro931Gln) c.77-1587C>A (n.77-1587C>A) | |
| 16 | g.51139140G>A | CA395881991 | SALL1 | c.3082C>T (p.Pro1028Ser) c.2791C>T (p.Pro931Ser) c.77-1588C>T (n.77-1588C>T) | |
| 16 | g.51139140G>C | CA395881992 | SALL1 | c.3082C>G (p.Pro1028Ala) c.2791C>G (p.Pro931Ala) c.77-1588C>G (n.77-1588C>G) | |
| 16 | g.51139140G>T | CA395881994 | SALL1 | c.3082C>A (p.Pro1028Thr) c.2791C>A (p.Pro931Thr) c.77-1588C>A (n.77-1588C>A) | |
| 16 | g.51139141T>A | CA395882003 | SALL1 | c.3081A>T (p.Arg1027Ser) c.2790A>T (p.Arg930Ser) c.77-1589A>T (n.77-1589A>T) | |
| 16 | g.51139141T>C | CA8052989 | SALL1 | c.3081A>G (p.Arg1027=) c.2790A>G (p.Arg930=) c.77-1589A>G (n.77-1589A>G) | dbSNP ExAC |
| 16 | g.51139141T>G | CA395881997 | SALL1 | c.3081A>C (p.Arg1027Ser) c.2790A>C (p.Arg930Ser) c.77-1589A>C (n.77-1589A>C) | |
| 16 | g.51139141T= | CA2222017488 | SALL1 | c.3081A= (p.Arg1027=) c.2790A= (p.Arg930=) c.77-1589A= (n.77-1589A=) | |
| 16 | g.51139144_51139147del | CA2633181091 | SALL1 | c.3078_3081del (p.Glu1026AspfsTer18) c.2787_2790del (p.Glu929AspfsTer18) c.77-1592_77-1589del (n.77-1592_77-1589del) | gnomAD v4 |
| 16 | g.51139142C>A | CA395882005 | SALL1 | c.3080G>T (p.Arg1027Ile) c.2789G>T (p.Arg930Ile) c.77-1590G>T (n.77-1590G>T) | COSMIC |
| 16 | g.51139142C>G | CA395882006 | SALL1 | c.3080G>C (p.Arg1027Thr) c.2789G>C (p.Arg930Thr) c.77-1590G>C (n.77-1590G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51139142C>T | CA395882007 | SALL1 | c.3080G>A (p.Arg1027Lys) c.2789G>A (p.Arg930Lys) c.77-1590G>A (n.77-1590G>A) | COSMIC |
| 16 | g.51139143T>A | CA395882008 | SALL1 | c.3079A>T (p.Arg1027Ter) c.2788A>T (p.Arg930Ter) c.77-1591A>T (n.77-1591A>T) | |
| 16 | g.51139143T>C | CA395882010 | SALL1 | c.3079A>G (p.Arg1027Gly) c.2788A>G (p.Arg930Gly) c.77-1591A>G (n.77-1591A>G) | |
| 16 | g.51139143T>G | CA495780010 | SALL1 | c.3079A>C (p.Arg1027=) c.2788A>C (p.Arg930=) c.77-1591A>C (n.77-1591A>C) | |
| 16 | g.51139144C>A | CA395882012 | SALL1 | c.3078G>T (p.Glu1026Asp) c.2787G>T (p.Glu929Asp) c.77-1592G>T (n.77-1592G>T) | |
| 16 | g.51139144C>G | CA395882013 | SALL1 | c.3078G>C (p.Glu1026Asp) c.2787G>C (p.Glu929Asp) c.77-1592G>C (n.77-1592G>C) | |
| 16 | g.51139144C>T | CA495780012 | SALL1 | c.3078G>A (p.Glu1026=) c.2787G>A (p.Glu929=) c.77-1592G>A (n.77-1592G>A) | |
| 16 | g.51139145T>A | CA395882015 | SALL1 | c.3077A>T (p.Glu1026Val) c.2786A>T (p.Glu929Val) c.77-1593A>T (n.77-1593A>T) | |
| 16 | g.51139145T>C | CA281300839 | SALL1 | c.3077A>G (p.Glu1026Gly) c.2786A>G (p.Glu929Gly) c.77-1593A>G (n.77-1593A>G) | dbSNP |
| 16 | g.51139145T>G | CA395882017 | SALL1 | c.3077A>C (p.Glu1026Ala) c.2786A>C (p.Glu929Ala) c.77-1593A>C (n.77-1593A>C) | |
| 16 | g.51139145T= | CA2222017496 | SALL1 | c.3077A= (p.Glu1026=) c.2786A= (p.Glu929=) c.77-1593A= (n.77-1593A=) | |
| 16 | g.51139146C>A | CA395882019 | SALL1 | c.3076G>T (p.Glu1026Ter) c.2785G>T (p.Glu929Ter) c.77-1594G>T (n.77-1594G>T) | |
| 16 | g.51139146C>G | CA395882021 | SALL1 | c.3076G>C (p.Glu1026Gln) c.2785G>C (p.Glu929Gln) c.77-1594G>C (n.77-1594G>C) | COSMIC |
| 16 | g.51139146C>T | CA395882022 | SALL1 | c.3076G>A (p.Glu1026Lys) c.2785G>A (p.Glu929Lys) c.77-1594G>A (n.77-1594G>A) | |
| 16 | g.51139147T>A | CA395882024 | SALL1 | c.3075A>T (p.Lys1025Asn) c.2784A>T (p.Lys928Asn) c.77-1595A>T (n.77-1595A>T) | |
| 16 | g.51139147T>C | CA495780016 | SALL1 | c.3075A>G (p.Lys1025=) c.2784A>G (p.Lys928=) c.77-1595A>G (n.77-1595A>G) | |
| 16 | g.51139147T>G | CA395882026 | SALL1 | c.3075A>C (p.Lys1025Asn) c.2784A>C (p.Lys928Asn) c.77-1595A>C (n.77-1595A>C) | |
| 16 | g.51139148T>A | CA395882028 | SALL1 | c.3074A>T (p.Lys1025Ile) c.2783A>T (p.Lys928Ile) c.77-1596A>T (n.77-1596A>T) | |
| 16 | g.51139148T>C | CA395882034 | SALL1 | c.3074A>G (p.Lys1025Arg) c.2783A>G (p.Lys928Arg) c.77-1596A>G (n.77-1596A>G) | |
| 16 | g.51139148T>G | CA395882029 | SALL1 | c.3074A>C (p.Lys1025Thr) c.2783A>C (p.Lys928Thr) c.77-1596A>C (n.77-1596A>C) | |
| 16 | g.51139149T>A | CA395882035 | SALL1 | c.3073A>T (p.Lys1025Ter) c.2782A>T (p.Lys928Ter) c.77-1597A>T (n.77-1597A>T) | |
| 16 | g.51139149T>C | CA395882038 | SALL1 | c.3073A>G (p.Lys1025Glu) c.2782A>G (p.Lys928Glu) c.77-1597A>G (n.77-1597A>G) | |
| 16 | g.51139149T>G | CA395882036 | SALL1 | c.3073A>C (p.Lys1025Gln) c.2782A>C (p.Lys928Gln) c.77-1597A>C (n.77-1597A>C) | |
| 16 | g.51139150G>A | CA495780018 | SALL1 | c.3072C>T (p.Thr1024=) c.2781C>T (p.Thr927=) c.77-1598C>T (n.77-1598C>T) | dbSNP |
| 16 | g.51139150G>C | CA495780019 | SALL1 | c.3072C>G (p.Thr1024=) c.2781C>G (p.Thr927=) c.77-1598C>G (n.77-1598C>G) | |
| 16 | g.51139150G= | CA2222017501 | SALL1 | c.3072C= (p.Thr1024=) c.2781C= (p.Thr927=) c.77-1598C= (n.77-1598C=) | |
| 16 | g.51139150G>T | CA495780020 | SALL1 | c.3072C>A (p.Thr1024=) c.2781C>A (p.Thr927=) c.77-1598C>A (n.77-1598C>A) | |
| 16 | g.51139151G>A | CA395882040 | SALL1 | c.3071C>T (p.Thr1024Ile) c.2780C>T (p.Thr927Ile) c.77-1599C>T (n.77-1599C>T) | gnomAD v4 |
| 16 | g.51139151G>C | CA395882043 | SALL1 | c.3071C>G (p.Thr1024Ser) c.2780C>G (p.Thr927Ser) c.77-1599C>G (n.77-1599C>G) | |
| 16 | g.51139151G>T | CA395882042 | SALL1 | c.3071C>A (p.Thr1024Asn) c.2780C>A (p.Thr927Asn) c.77-1599C>A (n.77-1599C>A) | |
| 16 | g.51139152T>A | CA395882045 | SALL1 | c.3070A>T (p.Thr1024Ser) c.2779A>T (p.Thr927Ser) c.77-1600A>T (n.77-1600A>T) | |
| 16 | g.51139152T>C | CA395882048 | SALL1 | c.3070A>G (p.Thr1024Ala) c.2779A>G (p.Thr927Ala) c.77-1600A>G (n.77-1600A>G) | |
| 16 | g.51139152T>G | CA395882046 | SALL1 | c.3070A>C (p.Thr1024Pro) c.2779A>C (p.Thr927Pro) c.77-1600A>C (n.77-1600A>C) | |
| 16 | g.51139153A>C | CA395882050 | SALL1 | c.3069T>G (p.His1023Gln) c.2778T>G (p.His926Gln) c.77-1601T>G (n.77-1601T>G) | |
| 16 | g.51139153A>G | CA495780022 | SALL1 | c.3069T>C (p.His1023=) c.2778T>C (p.His926=) c.77-1601T>C (n.77-1601T>C) | |
| 16 | g.51139153A>T | CA395882051 | SALL1 | c.3069T>A (p.His1023Gln) c.2778T>A (p.His926Gln) c.77-1601T>A (n.77-1601T>A) | |
| 16 | g.51139154T>A | CA395882053 | SALL1 | c.3068A>T (p.His1023Leu) c.2777A>T (p.His926Leu) c.77-1602A>T (n.77-1602A>T) | |
| 16 | g.51139154T>C | CA395882054 | SALL1 | c.3068A>G (p.His1023Arg) c.2777A>G (p.His926Arg) c.77-1602A>G (n.77-1602A>G) | |
| 16 | g.51139154T>G | CA395882055 | SALL1 | c.3068A>C (p.His1023Pro) c.2777A>C (p.His926Pro) c.77-1602A>C (n.77-1602A>C) | ClinVar dbSNP gnomAD v4 |
| 16 | g.51139154T= | CA2222017505 | SALL1 | c.3068A= (p.His1023=) c.2777A= (p.His926=) c.77-1602A= (n.77-1602A=) | |
| 16 | g.51139155G>A | CA395882056 | SALL1 | c.3067C>T (p.His1023Tyr) c.2776C>T (p.His926Tyr) c.77-1603C>T (n.77-1603C>T) | COSMIC |
| 16 | g.51139155G>C | CA395882057 | SALL1 | c.3067C>G (p.His1023Asp) c.2776C>G (p.His926Asp) c.77-1603C>G (n.77-1603C>G) | |
| 16 | g.51139155G>T | CA395882058 | SALL1 | c.3067C>A (p.His1023Asn) c.2776C>A (p.His926Asn) c.77-1603C>A (n.77-1603C>A) | |
| 16 | g.51139156A>C | CA395882059 | SALL1 | c.3066T>G (p.Ser1022Arg) c.2775T>G (p.Ser925Arg) c.77-1604T>G (n.77-1604T>G) | |
| 16 | g.51139156A>G | CA495780029 | SALL1 | c.3066T>C (p.Ser1022=) c.2775T>C (p.Ser925=) c.77-1604T>C (n.77-1604T>C) | |
| 16 | g.51139156A>T | CA395882061 | SALL1 | c.3066T>A (p.Ser1022Arg) c.2775T>A (p.Ser925Arg) c.77-1604T>A (n.77-1604T>A) | |
| 16 | g.51139157C>A | CA395882065 | SALL1 | c.3065G>T (p.Ser1022Ile) c.2774G>T (p.Ser925Ile) c.77-1605G>T (n.77-1605G>T) | |
| 16 | g.51139157C>G | CA395882064 | SALL1 | c.3065G>C (p.Ser1022Thr) c.2774G>C (p.Ser925Thr) c.77-1605G>C (n.77-1605G>C) | |
| 16 | g.51139157C>T | CA395882062 | SALL1 | c.3065G>A (p.Ser1022Asn) c.2774G>A (p.Ser925Asn) c.77-1605G>A (n.77-1605G>A) | |
| 16 | g.51139158T>A | CA395882069 | SALL1 | c.3064A>T (p.Ser1022Cys) c.2773A>T (p.Ser925Cys) c.77-1606A>T (n.77-1606A>T) | |
| 16 | g.51139158T>C | CA395882070 | SALL1 | c.3064A>G (p.Ser1022Gly) c.2773A>G (p.Ser925Gly) c.77-1606A>G (n.77-1606A>G) | COSMIC |
| 16 | g.51139158T>G | CA395882072 | SALL1 | c.3064A>C (p.Ser1022Arg) c.2773A>C (p.Ser925Arg) c.77-1606A>C (n.77-1606A>C) | |
| 16 | g.51139159T>A | CA395882075 | SALL1 | c.3063A>T (p.Arg1021Ser) c.2772A>T (p.Arg924Ser) c.77-1607A>T (n.77-1607A>T) | |
| 16 | g.51139159T>C | CA495780034 | SALL1 | c.3063A>G (p.Arg1021=) c.2772A>G (p.Arg924=) c.77-1607A>G (n.77-1607A>G) | |
| 16 | g.51139159T>G | CA395882078 | SALL1 | c.3063A>C (p.Arg1021Ser) c.2772A>C (p.Arg924Ser) c.77-1607A>C (n.77-1607A>C) | |
| 16 | g.51139160C>A | CA395882080 | SALL1 | c.3062G>T (p.Arg1021Ile) c.2771G>T (p.Arg924Ile) c.77-1608G>T (n.77-1608G>T) | |
| 16 | g.51139160C>G | CA395882083 | SALL1 | c.3062G>C (p.Arg1021Thr) c.2771G>C (p.Arg924Thr) c.77-1608G>C (n.77-1608G>C) | |
| 16 | g.51139160C>T | CA395882085 | SALL1 | c.3062G>A (p.Arg1021Lys) c.2771G>A (p.Arg924Lys) c.77-1608G>A (n.77-1608G>A) | COSMIC |
| 16 | g.51139161T>A | CA395882086 | SALL1 | c.3061A>T (p.Arg1021Ter) c.2770A>T (p.Arg924Ter) c.77-1609A>T (n.77-1609A>T) | |
| 16 | g.51139161T>C | CA395882088 | SALL1 | c.3061A>G (p.Arg1021Gly) c.2770A>G (p.Arg924Gly) c.77-1609A>G (n.77-1609A>G) | |
| 16 | g.51139161T>G | CA495780039 | SALL1 | c.3061A>C (p.Arg1021=) c.2770A>C (p.Arg924=) c.77-1609A>C (n.77-1609A>C) | |
| 16 | g.51139162A>C | CA395882090 | SALL1 | c.3060T>G (p.Tyr1020Ter) c.2769T>G (p.Tyr923Ter) c.77-1610T>G (n.77-1610T>G) | |
| 16 | g.51139162A>G | CA495780040 | SALL1 | c.3060T>C (p.Tyr1020=) c.2769T>C (p.Tyr923=) c.77-1610T>C (n.77-1610T>C) | gnomAD v4 |
| 16 | g.51139162A>T | CA395882091 | SALL1 | c.3060T>A (p.Tyr1020Ter) c.2769T>A (p.Tyr923Ter) c.77-1610T>A (n.77-1610T>A) | |
| 16 | g.51139163T>A | CA395882102 | SALL1 | c.3059A>T (p.Tyr1020Phe) c.2768A>T (p.Tyr923Phe) c.77-1611A>T (n.77-1611A>T) | gnomAD v4 |
| 16 | g.51139163T>C | CA395882100 | SALL1 | c.3059A>G (p.Tyr1020Cys) c.2768A>G (p.Tyr923Cys) c.77-1611A>G (n.77-1611A>G) | COSMIC |
| 16 | g.51139163T>G | CA395882095 | SALL1 | c.3059A>C (p.Tyr1020Ser) c.2768A>C (p.Tyr923Ser) c.77-1611A>C (n.77-1611A>C) | |
| 16 | g.51139164A>C | CA395882113 | SALL1 | c.3058T>G (p.Tyr1020Asp) c.2767T>G (p.Tyr923Asp) c.77-1612T>G (n.77-1612T>G) | |
| 16 | g.51139164A>G | CA395882107 | SALL1 | c.3058T>C (p.Tyr1020His) c.2767T>C (p.Tyr923His) c.77-1612T>C (n.77-1612T>C) | gnomAD v4 |
| 16 | g.51139164A>T | CA395882110 | SALL1 | c.3058T>A (p.Tyr1020Asn) c.2767T>A (p.Tyr923Asn) c.77-1612T>A (n.77-1612T>A) | |
| 16 | g.51139165G>A | CA495780042 | SALL1 | c.3057C>T (p.His1019=) c.2766C>T (p.His922=) c.77-1613C>T (n.77-1613C>T) | |
| 16 | g.51139165G>C | CA8052990 | SALL1 | c.3057C>G (p.His1019Gln) c.2766C>G (p.His922Gln) c.77-1613C>G (n.77-1613C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51139165G= | CA2222017507 | SALL1 | c.3057C= (p.His1019=) c.2766C= (p.His922=) c.77-1613C= (n.77-1613C=) | |
| 16 | g.51139165G>T | CA395882120 | SALL1 | c.3057C>A (p.His1019Gln) c.2766C>A (p.His922Gln) c.77-1613C>A (n.77-1613C>A) | |
| 16 | g.51139166T>A | CA395882124 | SALL1 | c.3056A>T (p.His1019Leu) c.2765A>T (p.His922Leu) c.77-1614A>T (n.77-1614A>T) | |
| 16 | g.51139166T>C | CA395882127 | SALL1 | c.3056A>G (p.His1019Arg) c.2765A>G (p.His922Arg) c.77-1614A>G (n.77-1614A>G) | gnomAD v4 |
| 16 | g.51139166T>G | CA395882130 | SALL1 | c.3056A>C (p.His1019Pro) c.2765A>C (p.His922Pro) c.77-1614A>C (n.77-1614A>C) | |
| 16 | g.51139167G>A | CA395882133 | SALL1 | c.3055C>T (p.His1019Tyr) c.2764C>T (p.His922Tyr) c.77-1615C>T (n.77-1615C>T) | gnomAD v4 |
| 16 | g.51139167G>C | CA395882138 | SALL1 | c.3055C>G (p.His1019Asp) c.2764C>G (p.His922Asp) c.77-1615C>G (n.77-1615C>G) | dbSNP |
| 16 | g.51139167G= | CA2222017510 | SALL1 | c.3055C= (p.His1019=) c.2764C= (p.His922=) c.77-1615C= (n.77-1615C=) | |
| 16 | g.51139167G>T | CA395882135 | SALL1 | c.3055C>A (p.His1019Asn) c.2764C>A (p.His922Asn) c.77-1615C>A (n.77-1615C>A) | gnomAD v4 |
| 16 | g.51139168A>C | CA395882142 | SALL1 | c.3054T>G (p.Ile1018Met) c.2763T>G (p.Ile921Met) c.77-1616T>G (n.77-1616T>G) | |
| 16 | g.51139168A>G | CA495780044 | SALL1 | c.3054T>C (p.Ile1018=) c.2763T>C (p.Ile921=) c.77-1616T>C (n.77-1616T>C) | |
| 16 | g.51139168A>T | CA495780045 | SALL1 | c.3054T>A (p.Ile1018=) c.2763T>A (p.Ile921=) c.77-1616T>A (n.77-1616T>A) | |
| 16 | g.51139169A>C | CA395882145 | SALL1 | c.3053T>G (p.Ile1018Ser) c.2762T>G (p.Ile921Ser) c.77-1617T>G (n.77-1617T>G) | |
| 16 | g.51139169A>G | CA395882149 | SALL1 | c.3053T>C (p.Ile1018Thr) c.2762T>C (p.Ile921Thr) c.77-1617T>C (n.77-1617T>C) | |
| 16 | g.51139169A>T | CA395882162 | SALL1 | c.3053T>A (p.Ile1018Asn) c.2762T>A (p.Ile921Asn) c.77-1617T>A (n.77-1617T>A) | |
| 16 | g.51139170T>A | CA395882165 | SALL1 | c.3052A>T (p.Ile1018Phe) c.2761A>T (p.Ile921Phe) c.77-1618A>T (n.77-1618A>T) | |
| 16 | g.51139170T>C | CA395882171 | SALL1 | c.3052A>G (p.Ile1018Val) c.2761A>G (p.Ile921Val) c.77-1618A>G (n.77-1618A>G) | |
| 16 | g.51139170T>G | CA395882167 | SALL1 | c.3052A>C (p.Ile1018Leu) c.2761A>C (p.Ile921Leu) c.77-1618A>C (n.77-1618A>C) | |
| 16 | g.51139171G>A | CA8052991 | SALL1 | c.3051C>T (p.Asp1017=) c.2760C>T (p.Asp920=) c.77-1619C>T (n.77-1619C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139171G>C | CA395882177 | SALL1 | c.3051C>G (p.Asp1017Glu) c.2760C>G (p.Asp920Glu) c.77-1619C>G (n.77-1619C>G) | |
| 16 | g.51139171G= | CA2222017514 | SALL1 | c.3051C= (p.Asp1017=) c.2760C= (p.Asp920=) c.77-1619C= (n.77-1619C=) | |
| 16 | g.51139171G>T | CA395882180 | SALL1 | c.3051C>A (p.Asp1017Glu) c.2760C>A (p.Asp920Glu) c.77-1619C>A (n.77-1619C>A) | |
| 16 | g.51139172T>A | CA395882182 | SALL1 | c.3050A>T (p.Asp1017Val) c.2759A>T (p.Asp920Val) c.77-1620A>T (n.77-1620A>T) | |
| 16 | g.51139172T>C | CA395882185 | SALL1 | c.3050A>G (p.Asp1017Gly) c.2759A>G (p.Asp920Gly) c.77-1620A>G (n.77-1620A>G) | |
| 16 | g.51139172T>G | CA395882187 | SALL1 | c.3050A>C (p.Asp1017Ala) c.2759A>C (p.Asp920Ala) c.77-1620A>C (n.77-1620A>C) | |
| 16 | g.51139173C>A | CA395882190 | SALL1 | c.3049G>T (p.Asp1017Tyr) c.2758G>T (p.Asp920Tyr) c.77-1621G>T (n.77-1621G>T) | |
| 16 | g.51139173C>G | CA395882193 | SALL1 | c.3049G>C (p.Asp1017His) c.2758G>C (p.Asp920His) c.77-1621G>C (n.77-1621G>C) | |
| 16 | g.51139173C>T | CA395882196 | SALL1 | c.3049G>A (p.Asp1017Asn) c.2758G>A (p.Asp920Asn) c.77-1621G>A (n.77-1621G>A) | gnomAD v4 |
| 16 | g.51139174C>A | CA395882199 | SALL1 | c.3048G>T (p.Leu1016Phe) c.2757G>T (p.Leu919Phe) c.77-1622G>T (n.77-1622G>T) | |
| 16 | g.51139174C>G | CA395882205 | SALL1 | c.3048G>C (p.Leu1016Phe) c.2757G>C (p.Leu919Phe) c.77-1622G>C (n.77-1622G>C) | |
| 16 | g.51139174C>T | CA495780046 | SALL1 | c.3048G>A (p.Leu1016=) c.2757G>A (p.Leu919=) c.77-1622G>A (n.77-1622G>A) | |
| 16 | g.51139175A>C | CA395882217 | SALL1 | c.3047T>G (p.Leu1016Trp) c.2756T>G (p.Leu919Trp) c.77-1623T>G (n.77-1623T>G) | |
| 16 | g.51139175A>G | CA395882219 | SALL1 | c.3047T>C (p.Leu1016Ser) c.2756T>C (p.Leu919Ser) c.77-1623T>C (n.77-1623T>C) | |
| 16 | g.51139175A>T | CA395882215 | SALL1 | c.3047T>A (p.Leu1016Ter) c.2756T>A (p.Leu919Ter) c.77-1623T>A (n.77-1623T>A) | |
| 16 | g.51139176A= | CA2222017519 | SALL1 | c.3046T= (p.Leu1016=) c.2755T= (p.Leu919=) c.77-1624T= (n.77-1624T=) | |
| 16 | g.51139176A>C | CA395882222 | SALL1 | c.3046T>G (p.Leu1016Val) c.2755T>G (p.Leu919Val) c.77-1624T>G (n.77-1624T>G) | gnomAD v4 |
| 16 | g.51139176A>G | CA495780047 | SALL1 | c.3046T>C (p.Leu1016=) c.2755T>C (p.Leu919=) c.77-1624T>C (n.77-1624T>C) | dbSNP |
| 16 | g.51139176A>T | CA395882225 | SALL1 | c.3046T>A (p.Leu1016Met) c.2755T>A (p.Leu919Met) c.77-1624T>A (n.77-1624T>A) | |
| 16 | g.51139177G>A | CA495780050 | SALL1 | c.3045C>T (p.Ala1015=) c.2754C>T (p.Ala918=) c.77-1625C>T (n.77-1625C>T) | |
| 16 | g.51139177G>C | CA495780049 | SALL1 | c.3045C>G (p.Ala1015=) c.2754C>G (p.Ala918=) c.77-1625C>G (n.77-1625C>G) | |
| 16 | g.51139177G>T | CA495780048 | SALL1 | c.3045C>A (p.Ala1015=) c.2754C>A (p.Ala918=) c.77-1625C>A (n.77-1625C>A) | |
| 16 | g.51139178G>A | CA395882227 | SALL1 | c.3044C>T (p.Ala1015Val) c.2753C>T (p.Ala918Val) c.77-1626C>T (n.77-1626C>T) | |
| 16 | g.51139178G>C | CA395882229 | SALL1 | c.3044C>G (p.Ala1015Gly) c.2753C>G (p.Ala918Gly) c.77-1626C>G (n.77-1626C>G) | |
| 16 | g.51139178G>T | CA395882230 | SALL1 | c.3044C>A (p.Ala1015Asp) c.2753C>A (p.Ala918Asp) c.77-1626C>A (n.77-1626C>A) | |
| 16 | g.51139179C>A | CA395882234 | SALL1 | c.3043G>T (p.Ala1015Ser) c.2752G>T (p.Ala918Ser) c.77-1627G>T (n.77-1627G>T) | |
| 16 | g.51139179C>G | CA395882237 | SALL1 | c.3043G>C (p.Ala1015Pro) c.2752G>C (p.Ala918Pro) c.77-1627G>C (n.77-1627G>C) | |
| 16 | g.51139179C>T | CA395882240 | SALL1 | c.3043G>A (p.Ala1015Thr) c.2752G>A (p.Ala918Thr) c.77-1627G>A (n.77-1627G>A) | |
| 16 | g.51139180A>C | CA395882243 | SALL1 | c.3042T>G (p.Ser1014Arg) c.2751T>G (p.Ser917Arg) c.77-1628T>G (n.77-1628T>G) | |
| 16 | g.51139180A>G | CA495780051 | SALL1 | c.3042T>C (p.Ser1014=) c.2751T>C (p.Ser917=) c.77-1628T>C (n.77-1628T>C) | |
| 16 | g.51139180A>T | CA395882246 | SALL1 | c.3042T>A (p.Ser1014Arg) c.2751T>A (p.Ser917Arg) c.77-1628T>A (n.77-1628T>A) | |
| 16 | g.51139181C>A | CA395882251 | SALL1 | c.3041G>T (p.Ser1014Ile) c.2750G>T (p.Ser917Ile) c.77-1629G>T (n.77-1629G>T) | |
| 16 | g.51139181C>G | CA395882252 | SALL1 | c.3041G>C (p.Ser1014Thr) c.2750G>C (p.Ser917Thr) c.77-1629G>C (n.77-1629G>C) | |
| 16 | g.51139181C>T | CA395882256 | SALL1 | c.3041G>A (p.Ser1014Asn) c.2750G>A (p.Ser917Asn) c.77-1629G>A (n.77-1629G>A) | |
| 16 | g.51139182T>A | CA395882268 | SALL1 | c.3040A>T (p.Ser1014Cys) c.2749A>T (p.Ser917Cys) c.77-1630A>T (n.77-1630A>T) | |
| 16 | g.51139182T>C | CA395882265 | SALL1 | c.3040A>G (p.Ser1014Gly) c.2749A>G (p.Ser917Gly) c.77-1630A>G (n.77-1630A>G) | |
| 16 | g.51139182T>G | CA395882261 | SALL1 | c.3040A>C (p.Ser1014Arg) c.2749A>C (p.Ser917Arg) c.77-1630A>C (n.77-1630A>C) | |
| 16 | g.51139183C>A | CA395882272 | SALL1 | c.3039G>T (p.Gln1013His) c.2748G>T (p.Gln916His) c.77-1631G>T (n.77-1631G>T) | |
| 16 | g.51139183C>G | CA395882275 | SALL1 | c.3039G>C (p.Gln1013His) c.2748G>C (p.Gln916His) c.77-1631G>C (n.77-1631G>C) | |
| 16 | g.51139183C>T | CA495780052 | SALL1 | c.3039G>A (p.Gln1013=) c.2748G>A (p.Gln916=) c.77-1631G>A (n.77-1631G>A) | |
| 16 | g.51139184T>A | CA395882279 | SALL1 | c.3038A>T (p.Gln1013Leu) c.2747A>T (p.Gln916Leu) c.77-1632A>T (n.77-1632A>T) | |
| 16 | g.51139184T>C | CA395882281 | SALL1 | c.3038A>G (p.Gln1013Arg) c.2747A>G (p.Gln916Arg) c.77-1632A>G (n.77-1632A>G) | |
| 16 | g.51139184T>G | CA395882284 | SALL1 | c.3038A>C (p.Gln1013Pro) c.2747A>C (p.Gln916Pro) c.77-1632A>C (n.77-1632A>C) | |
| 16 | g.51139185G>A | CA395882286 | SALL1 | c.3037C>T (p.Gln1013Ter) c.2746C>T (p.Gln916Ter) c.77-1633C>T (n.77-1633C>T) | gnomAD v4 |
| 16 | g.51139185G>C | CA395882290 | SALL1 | c.3037C>G (p.Gln1013Glu) c.2746C>G (p.Gln916Glu) c.77-1633C>G (n.77-1633C>G) | |
| 16 | g.51139185G>T | CA395882298 | SALL1 | c.3037C>A (p.Gln1013Lys) c.2746C>A (p.Gln916Lys) c.77-1633C>A (n.77-1633C>A) | |
| 16 | g.51139186A>C | CA395882301 | SALL1 | c.3036T>G (p.Cys1012Trp) c.2745T>G (p.Cys915Trp) c.77-1634T>G (n.77-1634T>G) | |
| 16 | g.51139186A>G | CA495780053 | SALL1 | c.3036T>C (p.Cys1012=) c.2745T>C (p.Cys915=) c.77-1634T>C (n.77-1634T>C) | |
| 16 | g.51139186A>T | CA395882304 | SALL1 | c.3036T>A (p.Cys1012Ter) c.2745T>A (p.Cys915Ter) c.77-1634T>A (n.77-1634T>A) | |
| 16 | g.51139187C>A | CA395882324 | SALL1 | c.3035G>T (p.Cys1012Phe) c.2744G>T (p.Cys915Phe) c.77-1635G>T (n.77-1635G>T) | |
| 16 | g.51139187C>G | CA395882329 | SALL1 | c.3035G>C (p.Cys1012Ser) c.2744G>C (p.Cys915Ser) c.77-1635G>C (n.77-1635G>C) | |
| 16 | g.51139187C>T | CA395882341 | SALL1 | c.3035G>A (p.Cys1012Tyr) c.2744G>A (p.Cys915Tyr) c.77-1635G>A (n.77-1635G>A) | |
| 16 | g.51139188A>C | CA395882348 | SALL1 | c.3034T>G (p.Cys1012Gly) c.2743T>G (p.Cys915Gly) c.77-1636T>G (n.77-1636T>G) | |
| 16 | g.51139188A>G | CA395882351 | SALL1 | c.3034T>C (p.Cys1012Arg) c.2743T>C (p.Cys915Arg) c.77-1636T>C (n.77-1636T>C) | |
| 16 | g.51139188A>T | CA395882345 | SALL1 | c.3034T>A (p.Cys1012Ser) c.2743T>A (p.Cys915Ser) c.77-1636T>A (n.77-1636T>A) | |
| 16 | g.51139189del | CA2695223343 | SALL1 | c.3034del (p.Cys1012ValfsTer?) c.2743del (p.Cys915ValfsTer?) c.77-1636del (n.77-1636del) | |
| 16 | g.51139189A>C | CA495780054 | SALL1 | c.3033T>G (p.Ala1011=) c.2742T>G (p.Ala914=) c.77-1637T>G (n.77-1637T>G) | |
| 16 | g.51139189A>G | CA495780055 | SALL1 | c.3033T>C (p.Ala1011=) c.2742T>C (p.Ala914=) c.77-1637T>C (n.77-1637T>C) | |
| 16 | g.51139189A>T | CA495780056 | SALL1 | c.3033T>A (p.Ala1011=) c.2742T>A (p.Ala914=) c.77-1637T>A (n.77-1637T>A) | |
| 16 | g.51139190G>A | CA395882353 | SALL1 | c.3032C>T (p.Ala1011Val) c.2741C>T (p.Ala914Val) c.77-1638C>T (n.77-1638C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139190G>C | CA395882356 | SALL1 | c.3032C>G (p.Ala1011Gly) c.2741C>G (p.Ala914Gly) c.77-1638C>G (n.77-1638C>G) | |
| 16 | g.51139190G= | CA2222017522 | SALL1 | c.3032C= (p.Ala1011=) c.2741C= (p.Ala914=) c.77-1638C= (n.77-1638C=) | |
| 16 | g.51139190G>T | CA395882359 | SALL1 | c.3032C>A (p.Ala1011Asp) c.2741C>A (p.Ala914Asp) c.77-1638C>A (n.77-1638C>A) | |
| 16 | g.51139190_51139203dup | CA2695223344 | SALL1 | c.3019_3032dup (p.Cys1012AlafsTer?) c.2728_2741dup (p.Cys915AlafsTer?) c.77-1651_77-1638dup (n.77-1651_77-1638dup) | |
| 16 | g.51139191C>A | CA395882363 | SALL1 | c.3031G>T (p.Ala1011Ser) c.2740G>T (p.Ala914Ser) c.77-1639G>T (n.77-1639G>T) | |
| 16 | g.51139191C>G | CA395882370 | SALL1 | c.3031G>C (p.Ala1011Pro) c.2740G>C (p.Ala914Pro) c.77-1639G>C (n.77-1639G>C) | |
| 16 | g.51139191C>T | CA395882374 | SALL1 | c.3031G>A (p.Ala1011Thr) c.2740G>A (p.Ala914Thr) c.77-1639G>A (n.77-1639G>A) | |
| 16 | g.51139192A>C | CA395882378 | SALL1 | c.3030T>G (p.Phe1010Leu) c.2739T>G (p.Phe913Leu) c.77-1640T>G (n.77-1640T>G) | |
| 16 | g.51139192A>G | CA495780057 | SALL1 | c.3030T>C (p.Phe1010=) c.2739T>C (p.Phe913=) c.77-1640T>C (n.77-1640T>C) | |
| 16 | g.51139192A>T | CA395882387 | SALL1 | c.3030T>A (p.Phe1010Leu) c.2739T>A (p.Phe913Leu) c.77-1640T>A (n.77-1640T>A) | |
| 16 | g.51139193A>C | CA395882390 | SALL1 | c.3029T>G (p.Phe1010Cys) c.2738T>G (p.Phe913Cys) c.77-1641T>G (n.77-1641T>G) | |
| 16 | g.51139193A>G | CA395882393 | SALL1 | c.3029T>C (p.Phe1010Ser) c.2738T>C (p.Phe913Ser) c.77-1641T>C (n.77-1641T>C) | |
| 16 | g.51139193A>T | CA395882394 | SALL1 | c.3029T>A (p.Phe1010Tyr) c.2738T>A (p.Phe913Tyr) c.77-1641T>A (n.77-1641T>A) | |
| 16 | g.51139194A>C | CA395882415 | SALL1 | c.3028T>G (p.Phe1010Val) c.2737T>G (p.Phe913Val) c.77-1642T>G (n.77-1642T>G) | |
| 16 | g.51139194A>G | CA395882412 | SALL1 | c.3028T>C (p.Phe1010Leu) c.2737T>C (p.Phe913Leu) c.77-1642T>C (n.77-1642T>C) | |
| 16 | g.51139194A>T | CA395882398 | SALL1 | c.3028T>A (p.Phe1010Ile) c.2737T>A (p.Phe913Ile) c.77-1642T>A (n.77-1642T>A) | |
| 16 | g.51139195T>A | CA495780059 | SALL1 | c.3027A>T (p.Thr1009=) c.2736A>T (p.Thr912=) c.77-1643A>T (n.77-1643A>T) | |
| 16 | g.51139195T>C | CA495780060 | SALL1 | c.3027A>G (p.Thr1009=) c.2736A>G (p.Thr912=) c.77-1643A>G (n.77-1643A>G) | |
| 16 | g.51139195T>G | CA495780058 | SALL1 | c.3027A>C (p.Thr1009=) c.2736A>C (p.Thr912=) c.77-1643A>C (n.77-1643A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51139195T= | CA2222017524 | SALL1 | c.3027A= (p.Thr1009=) c.2736A= (p.Thr912=) c.77-1643A= (n.77-1643A=) | |
| 16 | g.51139196G>A | CA395882419 | SALL1 | c.3026C>T (p.Thr1009Ile) c.2735C>T (p.Thr912Ile) c.77-1644C>T (n.77-1644C>T) | gnomAD v4 |
| 16 | g.51139196G>C | CA395882421 | SALL1 | c.3026C>G (p.Thr1009Arg) c.2735C>G (p.Thr912Arg) c.77-1644C>G (n.77-1644C>G) | |
| 16 | g.51139196G>T | CA395882428 | SALL1 | c.3026C>A (p.Thr1009Lys) c.2735C>A (p.Thr912Lys) c.77-1644C>A (n.77-1644C>A) | |
| 16 | g.51139197T>A | CA395882432 | SALL1 | c.3025A>T (p.Thr1009Ser) c.2734A>T (p.Thr912Ser) c.77-1645A>T (n.77-1645A>T) | |
| 16 | g.51139197T>C | CA8052992 | SALL1 | c.3025A>G (p.Thr1009Ala) c.2734A>G (p.Thr912Ala) c.77-1645A>G (n.77-1645A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139197T>G | CA395882436 | SALL1 | c.3025A>C (p.Thr1009Pro) c.2734A>C (p.Thr912Pro) c.77-1645A>C (n.77-1645A>C) | |
| 16 | g.51139197T= | CA2222017530 | SALL1 | c.3025A= (p.Thr1009=) c.2734A= (p.Thr912=) c.77-1645A= (n.77-1645A=) | |
| 16 | g.51139198T>A | CA395882441 | SALL1 | c.3024A>T (p.Lys1008Asn) c.2733A>T (p.Lys911Asn) c.77-1646A>T (n.77-1646A>T) | |
| 16 | g.51139198T>C | CA495780098 | SALL1 | c.3024A>G (p.Lys1008=) c.2733A>G (p.Lys911=) c.77-1646A>G (n.77-1646A>G) | |
| 16 | g.51139198T>G | CA395882443 | SALL1 | c.3024A>C (p.Lys1008Asn) c.2733A>C (p.Lys911Asn) c.77-1646A>C (n.77-1646A>C) | |
| 16 | g.51139199T>A | CA395882446 | SALL1 | c.3023A>T (p.Lys1008Ile) c.2732A>T (p.Lys911Ile) c.77-1647A>T (n.77-1647A>T) | |
| 16 | g.51139199T>C | CA395882450 | SALL1 | c.3023A>G (p.Lys1008Arg) c.2732A>G (p.Lys911Arg) c.77-1647A>G (n.77-1647A>G) | |
| 16 | g.51139199T>G | CA395882453 | SALL1 | c.3023A>C (p.Lys1008Thr) c.2732A>C (p.Lys911Thr) c.77-1647A>C (n.77-1647A>C) | |
| 16 | g.51139200T>A | CA395882457 | SALL1 | c.3022A>T (p.Lys1008Ter) c.2731A>T (p.Lys911Ter) c.77-1648A>T (n.77-1648A>T) | |
| 16 | g.51139200T>C | CA395882456 | SALL1 | c.3022A>G (p.Lys1008Glu) c.2731A>G (p.Lys911Glu) c.77-1648A>G (n.77-1648A>G) | |
| 16 | g.51139200T>G | CA395882455 | SALL1 | c.3022A>C (p.Lys1008Gln) c.2731A>C (p.Lys911Gln) c.77-1648A>C (n.77-1648A>C) | |
| 16 | g.51139201G>A | CA495780100 | SALL1 | c.3021C>T (p.Gly1007=) c.2730C>T (p.Gly910=) c.77-1649C>T (n.77-1649C>T) | |
| 16 | g.51139201G>C | CA8052993 | SALL1 | c.3021C>G (p.Gly1007=) c.2730C>G (p.Gly910=) c.77-1649C>G (n.77-1649C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139201G= | CA2222017539 | SALL1 | c.3021C= (p.Gly1007=) c.2730C= (p.Gly910=) c.77-1649C= (n.77-1649C=) | |
| 16 | g.51139201G>T | CA495780102 | SALL1 | c.3021C>A (p.Gly1007=) c.2730C>A (p.Gly910=) c.77-1649C>A (n.77-1649C>A) | |
| 16 | g.51139202C>A | CA395882475 | SALL1 | c.3020G>T (p.Gly1007Val) c.2729G>T (p.Gly910Val) c.77-1650G>T (n.77-1650G>T) | |
| 16 | g.51139202C= | CA2222017548 | SALL1 | c.3020G= (p.Gly1007=) c.2729G= (p.Gly910=) c.77-1650G= (n.77-1650G=) | |
| 16 | g.51139202C>G | CA395882471 | SALL1 | c.3020G>C (p.Gly1007Ala) c.2729G>C (p.Gly910Ala) c.77-1650G>C (n.77-1650G>C) | |
| 16 | g.51139202C>T | CA8052994 | SALL1 | c.3020G>A (p.Gly1007Asp) c.2729G>A (p.Gly910Asp) c.77-1650G>A (n.77-1650G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51139203C>A | CA395882479 | SALL1 | c.3019G>T (p.Gly1007Cys) c.2728G>T (p.Gly910Cys) c.77-1651G>T (n.77-1651G>T) | gnomAD v4 |
| 16 | g.51139203C= | CA2222017555 | SALL1 | c.3019G= (p.Gly1007=) c.2728G= (p.Gly910=) c.77-1651G= (n.77-1651G=) | |
| 16 | g.51139203C>G | CA395882484 | SALL1 | c.3019G>C (p.Gly1007Arg) c.2728G>C (p.Gly910Arg) c.77-1651G>C (n.77-1651G>C) | |
| 16 | g.51139203C>T | CA395882490 | SALL1 | c.3019G>A (p.Gly1007Ser) c.2728G>A (p.Gly910Ser) c.77-1651G>A (n.77-1651G>A) | dbSNP gnomAD v4 COSMIC |
| 16 | g.51139204A>C | CA395882494 | SALL1 | c.3018T>G (p.Cys1006Trp) c.2727T>G (p.Cys909Trp) c.77-1652T>G (n.77-1652T>G) | |
| 16 | g.51139204A>G | CA495780104 | SALL1 | c.3018T>C (p.Cys1006=) c.2727T>C (p.Cys909=) c.77-1652T>C (n.77-1652T>C) | |
| 16 | g.51139204A>T | CA395882495 | SALL1 | c.3018T>A (p.Cys1006Ter) c.2727T>A (p.Cys909Ter) c.77-1652T>A (n.77-1652T>A) | |
| 16 | g.51139205C>A | CA395882499 | SALL1 | c.3017G>T (p.Cys1006Phe) c.2726G>T (p.Cys909Phe) c.77-1653G>T (n.77-1653G>T) | |
| 16 | g.51139205C>G | CA395882507 | SALL1 | c.3017G>C (p.Cys1006Ser) c.2726G>C (p.Cys909Ser) c.77-1653G>C (n.77-1653G>C) | |
| 16 | g.51139205C>T | CA395882502 | SALL1 | c.3017G>A (p.Cys1006Tyr) c.2726G>A (p.Cys909Tyr) c.77-1653G>A (n.77-1653G>A) | gnomAD v4 |
| 16 | g.51139206A>C | CA395882512 | SALL1 | c.3016T>G (p.Cys1006Gly) c.2725T>G (p.Cys909Gly) c.77-1654T>G (n.77-1654T>G) | |
| 16 | g.51139206A>G | CA395882514 | SALL1 | c.3016T>C (p.Cys1006Arg) c.2725T>C (p.Cys909Arg) c.77-1654T>C (n.77-1654T>C) | |
| 16 | g.51139206A>T | CA395882521 | SALL1 | c.3016T>A (p.Cys1006Ser) c.2725T>A (p.Cys909Ser) c.77-1654T>A (n.77-1654T>A) |