Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51141155A= | CA2222021500 | SALL1 | c.1067T= (p.Val356=) c.776T= (p.Val259=) c.77-3603T= (n.77-3603T=) | |
16 | g.51141155A>C | CA395889718 | SALL1 | c.1067T>G (p.Val356Gly) c.776T>G (p.Val259Gly) c.77-3603T>G (n.77-3603T>G) | |
16 | g.51141155A>G | CA395889721 | SALL1 | c.1067T>C (p.Val356Ala) c.776T>C (p.Val259Ala) c.77-3603T>C (n.77-3603T>C) | dbSNP |
16 | g.51141155A>T | CA395889722 | SALL1 | c.1067T>A (p.Val356Glu) c.776T>A (p.Val259Glu) c.77-3603T>A (n.77-3603T>A) | |
16 | g.51141156C>A | CA395889726 | SALL1 | c.1066G>T (p.Val356Leu) c.775G>T (p.Val259Leu) c.77-3604G>T (n.77-3604G>T) | |
16 | g.51141156C= | CA2222021507 | SALL1 | c.1066G= (p.Val356=) c.775G= (p.Val259=) c.77-3604G= (n.77-3604G=) | |
16 | g.51141156C>G | CA395889728 | SALL1 | c.1066G>C (p.Val356Leu) c.775G>C (p.Val259Leu) c.77-3604G>C (n.77-3604G>C) | COSMIC |
16 | g.51141156C>T | CA395889724 | SALL1 | c.1066G>A (p.Val356Met) c.775G>A (p.Val259Met) c.77-3604G>A (n.77-3604G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141157T>A | CA395889734 | SALL1 | c.1065A>T (p.Lys355Asn) c.774A>T (p.Lys258Asn) c.77-3605A>T (n.77-3605A>T) | |
16 | g.51141157T>C | CA495781146 | SALL1 | c.1065A>G (p.Lys355=) c.774A>G (p.Lys258=) c.77-3605A>G (n.77-3605A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141157T>G | CA395889731 | SALL1 | c.1065A>C (p.Lys355Asn) c.774A>C (p.Lys258Asn) c.77-3605A>C (n.77-3605A>C) | |
16 | g.51141157T= | CA2222021513 | SALL1 | c.1065A= (p.Lys355=) c.774A= (p.Lys258=) c.77-3605A= (n.77-3605A=) | |
16 | g.51141161dup | CA2695223392 | SALL1 | c.1065dup (p.Val356SerfsTer?) c.774dup (p.Val259SerfsTer?) c.77-3605dup (n.77-3605dup) | |
16 | g.51141158T>A | CA395889736 | SALL1 | c.1064A>T (p.Lys355Ile) c.773A>T (p.Lys258Ile) c.77-3606A>T (n.77-3606A>T) | |
16 | g.51141158T>C | CA395889739 | SALL1 | c.1064A>G (p.Lys355Arg) c.773A>G (p.Lys258Arg) c.77-3606A>G (n.77-3606A>G) | |
16 | g.51141158T>G | CA395889741 | SALL1 | c.1064A>C (p.Lys355Thr) c.773A>C (p.Lys258Thr) c.77-3606A>C (n.77-3606A>C) | |
16 | g.51141159T>A | CA395889744 | SALL1 | c.1063A>T (p.Lys355Ter) c.772A>T (p.Lys258Ter) c.77-3607A>T (n.77-3607A>T) | |
16 | g.51141159T>C | CA395889745 | SALL1 | c.1063A>G (p.Lys355Glu) c.772A>G (p.Lys258Glu) c.77-3607A>G (n.77-3607A>G) | |
16 | g.51141159T>G | CA395889746 | SALL1 | c.1063A>C (p.Lys355Gln) c.772A>C (p.Lys258Gln) c.77-3607A>C (n.77-3607A>C) | |
16 | g.51141160T>A | CA395889748 | SALL1 | c.1062A>T (p.Glu354Asp) c.771A>T (p.Glu257Asp) c.77-3608A>T (n.77-3608A>T) | |
16 | g.51141160T>C | CA495781148 | SALL1 | c.1062A>G (p.Glu354=) c.771A>G (p.Glu257=) c.77-3608A>G (n.77-3608A>G) | |
16 | g.51141160T>G | CA395889751 | SALL1 | c.1062A>C (p.Glu354Asp) c.771A>C (p.Glu257Asp) c.77-3608A>C (n.77-3608A>C) | |
16 | g.51141161T>A | CA395889755 | SALL1 | c.1061A>T (p.Glu354Val) c.770A>T (p.Glu257Val) c.77-3609A>T (n.77-3609A>T) | |
16 | g.51141161T>C | CA395889758 | SALL1 | c.1061A>G (p.Glu354Gly) c.770A>G (p.Glu257Gly) c.77-3609A>G (n.77-3609A>G) | |
16 | g.51141161T>G | CA395889759 | SALL1 | c.1061A>C (p.Glu354Ala) c.770A>C (p.Glu257Ala) c.77-3609A>C (n.77-3609A>C) | |
16 | g.51141162C>A | CA395889763 | SALL1 | c.1060G>T (p.Glu354Ter) c.769G>T (p.Glu257Ter) c.77-3610G>T (n.77-3610G>T) | COSMIC |
16 | g.51141162C>G | CA395889765 | SALL1 | c.1060G>C (p.Glu354Gln) c.769G>C (p.Glu257Gln) c.77-3610G>C (n.77-3610G>C) | |
16 | g.51141162C>T | CA395889762 | SALL1 | c.1060G>A (p.Glu354Lys) c.769G>A (p.Glu257Lys) c.77-3610G>A (n.77-3610G>A) | |
16 | g.51141163A>C | CA495781151 | SALL1 | c.1059T>G (p.Ser353=) c.768T>G (p.Ser256=) c.77-3611T>G (n.77-3611T>G) | |
16 | g.51141163A>G | CA495781152 | SALL1 | c.1059T>C (p.Ser353=) c.768T>C (p.Ser256=) c.77-3611T>C (n.77-3611T>C) | |
16 | g.51141163A>T | CA495781153 | SALL1 | c.1059T>A (p.Ser353=) c.768T>A (p.Ser256=) c.77-3611T>A (n.77-3611T>A) | |
16 | g.51141164G>A | CA8053344 | SALL1 | c.1058C>T (p.Ser353Phe) c.767C>T (p.Ser256Phe) c.77-3612C>T (n.77-3612C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141164G>C | CA395889768 | SALL1 | c.1058C>G (p.Ser353Cys) c.767C>G (p.Ser256Cys) c.77-3612C>G (n.77-3612C>G) | |
16 | g.51141164G= | CA2222021518 | SALL1 | c.1058C= (p.Ser353=) c.767C= (p.Ser256=) c.77-3612C= (n.77-3612C=) | |
16 | g.51141164G>T | CA395889777 | SALL1 | c.1058C>A (p.Ser353Tyr) c.767C>A (p.Ser256Tyr) c.77-3612C>A (n.77-3612C>A) | |
16 | g.51141166_51141168del | CA2633181822 | SALL1 | c.1056_1058del (p.Ser353del) c.765_767del (p.Ser256del) c.77-3614_77-3612del (n.77-3614_77-3612del) | gnomAD v4 |
16 | g.51141165A= | CA2222021523 | SALL1 | c.1057T= (p.Ser353=) c.766T= (p.Ser256=) c.77-3613T= (n.77-3613T=) | |
16 | g.51141165A>C | CA395889779 | SALL1 | c.1057T>G (p.Ser353Ala) c.766T>G (p.Ser256Ala) c.77-3613T>G (n.77-3613T>G) | |
16 | g.51141165A>G | CA395889781 | SALL1 | c.1057T>C (p.Ser353Pro) c.766T>C (p.Ser256Pro) c.77-3613T>C (n.77-3613T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141165A>T | CA395889784 | SALL1 | c.1057T>A (p.Ser353Thr) c.766T>A (p.Ser256Thr) c.77-3613T>A (n.77-3613T>A) | |
16 | g.51141166G>A | CA8053345 | SALL1 | c.1056C>T (p.Ser352=) c.765C>T (p.Ser255=) c.77-3614C>T (n.77-3614C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141166G>C | CA495781161 | SALL1 | c.1056C>G (p.Ser352=) c.765C>G (p.Ser255=) c.77-3614C>G (n.77-3614C>G) | |
16 | g.51141166G= | CA2222021525 | SALL1 | c.1056C= (p.Ser352=) c.765C= (p.Ser255=) c.77-3614C= (n.77-3614C=) | |
16 | g.51141166G>T | CA495781162 | SALL1 | c.1056C>A (p.Ser352=) c.765C>A (p.Ser255=) c.77-3614C>A (n.77-3614C>A) | |
16 | g.51141167G>A | CA8053346 | SALL1 | c.1055C>T (p.Ser352Phe) c.764C>T (p.Ser255Phe) c.77-3615C>T (n.77-3615C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141167G>C | CA8053347 | SALL1 | c.1055C>G (p.Ser352Cys) c.764C>G (p.Ser255Cys) c.77-3615C>G (n.77-3615C>G) | dbSNP ExAC |
16 | g.51141167G= | CA2222021529 | SALL1 | c.1055C= (p.Ser352=) c.764C= (p.Ser255=) c.77-3615C= (n.77-3615C=) | |
16 | g.51141167G>T | CA395889792 | SALL1 | c.1055C>A (p.Ser352Tyr) c.764C>A (p.Ser255Tyr) c.77-3615C>A (n.77-3615C>A) | gnomAD v4 |
16 | g.51141168A>C | CA395889801 | SALL1 | c.1054T>G (p.Ser352Ala) c.763T>G (p.Ser255Ala) c.77-3616T>G (n.77-3616T>G) | |
16 | g.51141168A>G | CA395889802 | SALL1 | c.1054T>C (p.Ser352Pro) c.763T>C (p.Ser255Pro) c.77-3616T>C (n.77-3616T>C) | gnomAD v4 |