| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51138707G>A | CA8052918 | SALL1 | c.3515C>T (p.Thr1172Met) c.3224C>T (p.Thr1075Met) c.77-1155C>T (n.77-1155C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51138707G>C | CA395878555 | SALL1 | c.3515C>G (p.Thr1172Arg) c.3224C>G (p.Thr1075Arg) c.77-1155C>G (n.77-1155C>G) | |
| 16 | g.51138707G= | CA2222016621 | SALL1 | c.3515C= (p.Thr1172=) c.3224C= (p.Thr1075=) c.77-1155C= (n.77-1155C=) | |
| 16 | g.51138707G>T | CA395878556 | SALL1 | c.3515C>A (p.Thr1172Lys) c.3224C>A (p.Thr1075Lys) c.77-1155C>A (n.77-1155C>A) | |
| 16 | g.51138708T>A | CA395878557 | SALL1 | c.3514A>T (p.Thr1172Ser) c.3223A>T (p.Thr1075Ser) c.77-1156A>T (n.77-1156A>T) | |
| 16 | g.51138708T>C | CA395878558 | SALL1 | c.3514A>G (p.Thr1172Ala) c.3223A>G (p.Thr1075Ala) c.77-1156A>G (n.77-1156A>G) | |
| 16 | g.51138708T>G | CA395878559 | SALL1 | c.3514A>C (p.Thr1172Pro) c.3223A>C (p.Thr1075Pro) c.77-1156A>C (n.77-1156A>C) | |
| 16 | g.51138709G>A | CA495479211 | SALL1 | c.3513C>T (p.Phe1171=) c.3222C>T (p.Phe1074=) c.77-1157C>T (n.77-1157C>T) | gnomAD v4 |
| 16 | g.51138709G>C | CA395878560 | SALL1 | c.3513C>G (p.Phe1171Leu) c.3222C>G (p.Phe1074Leu) c.77-1157C>G (n.77-1157C>G) | |
| 16 | g.51138709G>T | CA395878561 | SALL1 | c.3513C>A (p.Phe1171Leu) c.3222C>A (p.Phe1074Leu) c.77-1157C>A (n.77-1157C>A) | |
| 16 | g.51138710A>C | CA395878562 | SALL1 | c.3512T>G (p.Phe1171Cys) c.3221T>G (p.Phe1074Cys) c.77-1158T>G (n.77-1158T>G) | |
| 16 | g.51138710A>G | CA395878563 | SALL1 | c.3512T>C (p.Phe1171Ser) c.3221T>C (p.Phe1074Ser) c.77-1158T>C (n.77-1158T>C) | |
| 16 | g.51138710A>T | CA395878564 | SALL1 | c.3512T>A (p.Phe1171Tyr) c.3221T>A (p.Phe1074Tyr) c.77-1158T>A (n.77-1158T>A) | |
| 16 | g.51138711A>C | CA395878567 | SALL1 | c.3511T>G (p.Phe1171Val) c.3220T>G (p.Phe1074Val) c.77-1159T>G (n.77-1159T>G) | |
| 16 | g.51138711A>G | CA395878566 | SALL1 | c.3511T>C (p.Phe1171Leu) c.3220T>C (p.Phe1074Leu) c.77-1159T>C (n.77-1159T>C) | |
| 16 | g.51138711A>T | CA395878565 | SALL1 | c.3511T>A (p.Phe1171Ile) c.3220T>A (p.Phe1074Ile) c.77-1159T>A (n.77-1159T>A) | |
| 16 | g.51138712A>C | CA495479221 | SALL1 | c.3510T>G (p.Ala1170=) c.3219T>G (p.Ala1073=) c.77-1160T>G (n.77-1160T>G) | |
| 16 | g.51138712A>G | CA495479223 | SALL1 | c.3510T>C (p.Ala1170=) c.3219T>C (p.Ala1073=) c.77-1160T>C (n.77-1160T>C) | |
| 16 | g.51138712A>T | CA495479225 | SALL1 | c.3510T>A (p.Ala1170=) c.3219T>A (p.Ala1073=) c.77-1160T>A (n.77-1160T>A) | |
| 16 | g.51138713G>A | CA395878568 | SALL1 | c.3509C>T (p.Ala1170Val) c.3218C>T (p.Ala1073Val) c.77-1161C>T (n.77-1161C>T) | dbSNP |
| 16 | g.51138713G>C | CA395878570 | SALL1 | c.3509C>G (p.Ala1170Gly) c.3218C>G (p.Ala1073Gly) c.77-1161C>G (n.77-1161C>G) | |
| 16 | g.51138713G= | CA2222016630 | SALL1 | c.3509C= (p.Ala1170=) c.3218C= (p.Ala1073=) c.77-1161C= (n.77-1161C=) | |
| 16 | g.51138713G>T | CA395878569 | SALL1 | c.3509C>A (p.Ala1170Asp) c.3218C>A (p.Ala1073Asp) c.77-1161C>A (n.77-1161C>A) | |
| 16 | g.51138714C>A | CA395878571 | SALL1 | c.3508G>T (p.Ala1170Ser) c.3217G>T (p.Ala1073Ser) c.77-1162G>T (n.77-1162G>T) | |
| 16 | g.51138714C>G | CA395878573 | SALL1 | c.3508G>C (p.Ala1170Pro) c.3217G>C (p.Ala1073Pro) c.77-1162G>C (n.77-1162G>C) | gnomAD v4 |
| 16 | g.51138714C>T | CA395878572 | SALL1 | c.3508G>A (p.Ala1170Thr) c.3217G>A (p.Ala1073Thr) c.77-1162G>A (n.77-1162G>A) | gnomAD v4 COSMIC |
| 16 | g.51138715T>A | CA395878574 | SALL1 | c.3507A>T (p.Arg1169Ser) c.3216A>T (p.Arg1072Ser) c.77-1163A>T (n.77-1163A>T) | |
| 16 | g.51138715T>C | CA495479233 | SALL1 | c.3507A>G (p.Arg1169=) c.3216A>G (p.Arg1072=) c.77-1163A>G (n.77-1163A>G) | |
| 16 | g.51138715T>G | CA395878575 | SALL1 | c.3507A>C (p.Arg1169Ser) c.3216A>C (p.Arg1072Ser) c.77-1163A>C (n.77-1163A>C) | |
| 16 | g.51138716C>A | CA395878576 | SALL1 | c.3506G>T (p.Arg1169Ile) c.3215G>T (p.Arg1072Ile) c.77-1164G>T (n.77-1164G>T) | |
| 16 | g.51138716C= | CA2222016631 | SALL1 | c.3506G= (p.Arg1169=) c.3215G= (p.Arg1072=) c.77-1164G= (n.77-1164G=) | |
| 16 | g.51138716C>G | CA395878577 | SALL1 | c.3506G>C (p.Arg1169Thr) c.3215G>C (p.Arg1072Thr) c.77-1164G>C (n.77-1164G>C) | COSMIC |
| 16 | g.51138716C>T | CA281298980 | SALL1 | c.3506G>A (p.Arg1169Lys) c.3215G>A (p.Arg1072Lys) c.77-1164G>A (n.77-1164G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51138717T>A | CA395878578 | SALL1 | c.3505A>T (p.Arg1169Ter) c.3214A>T (p.Arg1072Ter) c.77-1165A>T (n.77-1165A>T) | |
| 16 | g.51138717T>C | CA395878579 | SALL1 | c.3505A>G (p.Arg1169Gly) c.3214A>G (p.Arg1072Gly) c.77-1165A>G (n.77-1165A>G) | |
| 16 | g.51138717T>G | CA495479244 | SALL1 | c.3505A>C (p.Arg1169=) c.3214A>C (p.Arg1072=) c.77-1165A>C (n.77-1165A>C) | |
| 16 | g.51138718T>A | CA495479245 | SALL1 | c.3504A>T (p.Gly1168=) c.3213A>T (p.Gly1071=) c.77-1166A>T (n.77-1166A>T) | |
| 16 | g.51138718T>C | CA495479246 | SALL1 | c.3504A>G (p.Gly1168=) c.3213A>G (p.Gly1071=) c.77-1166A>G (n.77-1166A>G) | |
| 16 | g.51138718T>G | CA495479248 | SALL1 | c.3504A>C (p.Gly1168=) c.3213A>C (p.Gly1071=) c.77-1166A>C (n.77-1166A>C) | |
| 16 | g.51138719C>A | CA395878580 | SALL1 | c.3503G>T (p.Gly1168Val) c.3212G>T (p.Gly1071Val) c.77-1167G>T (n.77-1167G>T) | |
| 16 | g.51138719C>G | CA395878581 | SALL1 | c.3503G>C (p.Gly1168Ala) c.3212G>C (p.Gly1071Ala) c.77-1167G>C (n.77-1167G>C) | |
| 16 | g.51138719C>T | CA395878582 | SALL1 | c.3503G>A (p.Gly1168Glu) c.3212G>A (p.Gly1071Glu) c.77-1167G>A (n.77-1167G>A) | |
| 16 | g.51138720C>A | CA395878583 | SALL1 | c.3502G>T (p.Gly1168Ter) c.3211G>T (p.Gly1071Ter) c.77-1168G>T (n.77-1168G>T) | |
| 16 | g.51138720C>G | CA395878584 | SALL1 | c.3502G>C (p.Gly1168Arg) c.3211G>C (p.Gly1071Arg) c.77-1168G>C (n.77-1168G>C) | |
| 16 | g.51138720C>T | CA395878585 | SALL1 | c.3502G>A (p.Gly1168Arg) c.3211G>A (p.Gly1071Arg) c.77-1168G>A (n.77-1168G>A) | |
| 16 | g.51138721A>C | CA395878586 | SALL1 | c.3501T>G (p.Cys1167Trp) c.3210T>G (p.Cys1070Trp) c.77-1169T>G (n.77-1169T>G) | |
| 16 | g.51138721A>G | CA495479265 | SALL1 | c.3501T>C (p.Cys1167=) c.3210T>C (p.Cys1070=) c.77-1169T>C (n.77-1169T>C) | |
| 16 | g.51138721A>T | CA395878587 | SALL1 | c.3501T>A (p.Cys1167Ter) c.3210T>A (p.Cys1070Ter) c.77-1169T>A (n.77-1169T>A) | |
| 16 | g.51138722C>A | CA395878588 | SALL1 | c.3500G>T (p.Cys1167Phe) c.3209G>T (p.Cys1070Phe) c.77-1170G>T (n.77-1170G>T) | |
| 16 | g.51138722C>G | CA395878589 | SALL1 | c.3500G>C (p.Cys1167Ser) c.3209G>C (p.Cys1070Ser) c.77-1170G>C (n.77-1170G>C) |