Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.69951793A= | CA1373443460 | MITF | c.833-37A= (n.833-37A=) c.830-37A= (n.830-37A=) n.1055-37A= c.806-37A= (n.806-37A=) c.881-19A= (n.881-19A=) c.560-19A= (n.560-19A=) c.878-37A= (n.878-37A=) c.881-37A= (n.881-37A=) c.560-37A= (n.560-37A=) c.833-19A= (n.833-19A=) c.725-37A= (n.725-37A=) c.*207-19A= (n.*207-19A=) c.392-37A= (n.392-37A=) c.725-19A= (n.725-19A=) c.878-19A= (n.878-19A=) c.830-19A= (n.830-19A=) c.713-19A= (n.713-19A=) c.713-37A= (n.713-37A=) | |
3 | g.69951793A>G | CA543813029 | MITF | c.833-37A>G (n.833-37A>G) c.830-37A>G (n.830-37A>G) n.1055-37A>G c.806-37A>G (n.806-37A>G) c.881-19A>G (n.881-19A>G) c.560-19A>G (n.560-19A>G) c.878-37A>G (n.878-37A>G) c.881-37A>G (n.881-37A>G) c.560-37A>G (n.560-37A>G) c.833-19A>G (n.833-19A>G) c.725-37A>G (n.725-37A>G) c.*207-19A>G (n.*207-19A>G) c.392-37A>G (n.392-37A>G) c.725-19A>G (n.725-19A>G) c.878-19A>G (n.878-19A>G) c.830-19A>G (n.830-19A>G) c.713-19A>G (n.713-19A>G) c.713-37A>G (n.713-37A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.69951793A>T | CA2702873127 | MITF | c.833-37A>T (n.833-37A>T) c.830-37A>T (n.830-37A>T) n.1055-37A>T c.806-37A>T (n.806-37A>T) c.881-19A>T (n.881-19A>T) c.560-19A>T (n.560-19A>T) c.878-37A>T (n.878-37A>T) c.881-37A>T (n.881-37A>T) c.560-37A>T (n.560-37A>T) c.833-19A>T (n.833-19A>T) c.725-37A>T (n.725-37A>T) c.*207-19A>T (n.*207-19A>T) c.392-37A>T (n.392-37A>T) c.725-19A>T (n.725-19A>T) c.878-19A>T (n.878-19A>T) c.830-19A>T (n.830-19A>T) c.713-19A>T (n.713-19A>T) c.713-37A>T (n.713-37A>T) | dbSNP |
3 | g.69951794C>A | CA2666480709 | MITF | c.833-36C>A (n.833-36C>A) c.830-36C>A (n.830-36C>A) n.1055-36C>A c.806-36C>A (n.806-36C>A) c.881-18C>A (n.881-18C>A) c.560-18C>A (n.560-18C>A) c.878-36C>A (n.878-36C>A) c.881-36C>A (n.881-36C>A) c.560-36C>A (n.560-36C>A) c.833-18C>A (n.833-18C>A) c.725-36C>A (n.725-36C>A) c.*207-18C>A (n.*207-18C>A) c.392-36C>A (n.392-36C>A) c.725-18C>A (n.725-18C>A) c.878-18C>A (n.878-18C>A) c.830-18C>A (n.830-18C>A) c.713-18C>A (n.713-18C>A) c.713-36C>A (n.713-36C>A) | gnomAD v4 |
3 | g.69951794C= | CA1373443462 | MITF | c.833-36C= (n.833-36C=) c.830-36C= (n.830-36C=) n.1055-36C= c.806-36C= (n.806-36C=) c.881-18C= (n.881-18C=) c.560-18C= (n.560-18C=) c.878-36C= (n.878-36C=) c.881-36C= (n.881-36C=) c.560-36C= (n.560-36C=) c.833-18C= (n.833-18C=) c.725-36C= (n.725-36C=) c.*207-18C= (n.*207-18C=) c.392-36C= (n.392-36C=) c.725-18C= (n.725-18C=) c.878-18C= (n.878-18C=) c.830-18C= (n.830-18C=) c.713-18C= (n.713-18C=) c.713-36C= (n.713-36C=) | |
3 | g.69951794C>T | CA909889160 | MITF | c.833-36C>T (n.833-36C>T) c.830-36C>T (n.830-36C>T) n.1055-36C>T c.806-36C>T (n.806-36C>T) c.881-18C>T (n.881-18C>T) c.560-18C>T (n.560-18C>T) c.878-36C>T (n.878-36C>T) c.881-36C>T (n.881-36C>T) c.560-36C>T (n.560-36C>T) c.833-18C>T (n.833-18C>T) c.725-36C>T (n.725-36C>T) c.*207-18C>T (n.*207-18C>T) c.392-36C>T (n.392-36C>T) c.725-18C>T (n.725-18C>T) c.878-18C>T (n.878-18C>T) c.830-18C>T (n.830-18C>T) c.713-18C>T (n.713-18C>T) c.713-36C>T (n.713-36C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.69951797C= | CA1373443464 | MITF | c.833-33C= (n.833-33C=) c.830-33C= (n.830-33C=) n.1055-33C= c.806-33C= (n.806-33C=) c.881-15C= (n.881-15C=) c.560-15C= (n.560-15C=) c.878-33C= (n.878-33C=) c.881-33C= (n.881-33C=) c.560-33C= (n.560-33C=) c.833-15C= (n.833-15C=) c.725-33C= (n.725-33C=) c.*207-15C= (n.*207-15C=) c.392-33C= (n.392-33C=) c.725-15C= (n.725-15C=) c.878-15C= (n.878-15C=) c.830-15C= (n.830-15C=) c.713-15C= (n.713-15C=) c.713-33C= (n.713-33C=) | |
3 | g.69951797C>T | CA1373443465 | MITF | c.833-33C>T (n.833-33C>T) c.830-33C>T (n.830-33C>T) n.1055-33C>T c.806-33C>T (n.806-33C>T) c.881-15C>T (n.881-15C>T) c.560-15C>T (n.560-15C>T) c.878-33C>T (n.878-33C>T) c.881-33C>T (n.881-33C>T) c.560-33C>T (n.560-33C>T) c.833-15C>T (n.833-15C>T) c.725-33C>T (n.725-33C>T) c.*207-15C>T (n.*207-15C>T) c.392-33C>T (n.392-33C>T) c.725-15C>T (n.725-15C>T) c.878-15C>T (n.878-15C>T) c.830-15C>T (n.830-15C>T) c.713-15C>T (n.713-15C>T) c.713-33C>T (n.713-33C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.69951798A>G | CA2666480710 | MITF | c.833-32A>G (n.833-32A>G) c.830-32A>G (n.830-32A>G) n.1055-32A>G c.806-32A>G (n.806-32A>G) c.881-14A>G (n.881-14A>G) c.560-14A>G (n.560-14A>G) c.878-32A>G (n.878-32A>G) c.881-32A>G (n.881-32A>G) c.560-32A>G (n.560-32A>G) c.833-14A>G (n.833-14A>G) c.725-32A>G (n.725-32A>G) c.*207-14A>G (n.*207-14A>G) c.392-32A>G (n.392-32A>G) c.725-14A>G (n.725-14A>G) c.878-14A>G (n.878-14A>G) c.830-14A>G (n.830-14A>G) c.713-14A>G (n.713-14A>G) c.713-32A>G (n.713-32A>G) | gnomAD v4 |
3 | g.69951798A>T | CA2666480711 | MITF | c.833-32A>T (n.833-32A>T) c.830-32A>T (n.830-32A>T) n.1055-32A>T c.806-32A>T (n.806-32A>T) c.881-14A>T (n.881-14A>T) c.560-14A>T (n.560-14A>T) c.878-32A>T (n.878-32A>T) c.881-32A>T (n.881-32A>T) c.560-32A>T (n.560-32A>T) c.833-14A>T (n.833-14A>T) c.725-32A>T (n.725-32A>T) c.*207-14A>T (n.*207-14A>T) c.392-32A>T (n.392-32A>T) c.725-14A>T (n.725-14A>T) c.878-14A>T (n.878-14A>T) c.830-14A>T (n.830-14A>T) c.713-14A>T (n.713-14A>T) c.713-32A>T (n.713-32A>T) | gnomAD v4 |
3 | g.69951800T>A | CA1049248306 | MITF | c.833-30T>A (n.833-30T>A) c.830-30T>A (n.830-30T>A) n.1055-30T>A c.806-30T>A (n.806-30T>A) c.881-12T>A (n.881-12T>A) c.560-12T>A (n.560-12T>A) c.878-30T>A (n.878-30T>A) c.881-30T>A (n.881-30T>A) c.560-30T>A (n.560-30T>A) c.833-12T>A (n.833-12T>A) c.725-30T>A (n.725-30T>A) c.*207-12T>A (n.*207-12T>A) c.392-30T>A (n.392-30T>A) c.725-12T>A (n.725-12T>A) c.878-12T>A (n.878-12T>A) c.830-12T>A (n.830-12T>A) c.713-12T>A (n.713-12T>A) c.713-30T>A (n.713-30T>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.69951800T= | CA1373443466 | MITF | c.833-30T= (n.833-30T=) c.830-30T= (n.830-30T=) n.1055-30T= c.806-30T= (n.806-30T=) c.881-12T= (n.881-12T=) c.560-12T= (n.560-12T=) c.878-30T= (n.878-30T=) c.881-30T= (n.881-30T=) c.560-30T= (n.560-30T=) c.833-12T= (n.833-12T=) c.725-30T= (n.725-30T=) c.*207-12T= (n.*207-12T=) c.392-30T= (n.392-30T=) c.725-12T= (n.725-12T=) c.878-12T= (n.878-12T=) c.830-12T= (n.830-12T=) c.713-12T= (n.713-12T=) c.713-30T= (n.713-30T=) | |
3 | g.69951801C>A | CA2513602305 | MITF | c.833-29C>A (n.833-29C>A) c.830-29C>A (n.830-29C>A) n.1055-29C>A c.806-29C>A (n.806-29C>A) c.881-11C>A (n.881-11C>A) c.560-11C>A (n.560-11C>A) c.878-29C>A (n.878-29C>A) c.881-29C>A (n.881-29C>A) c.560-29C>A (n.560-29C>A) c.833-11C>A (n.833-11C>A) c.725-29C>A (n.725-29C>A) c.*207-11C>A (n.*207-11C>A) c.392-29C>A (n.392-29C>A) c.725-11C>A (n.725-11C>A) c.878-11C>A (n.878-11C>A) c.830-11C>A (n.830-11C>A) c.713-11C>A (n.713-11C>A) c.713-29C>A (n.713-29C>A) | gnomAD v4 |
3 | g.69951801C= | CA1373443468 | MITF | c.833-29C= (n.833-29C=) c.830-29C= (n.830-29C=) n.1055-29C= c.806-29C= (n.806-29C=) c.881-11C= (n.881-11C=) c.560-11C= (n.560-11C=) c.878-29C= (n.878-29C=) c.881-29C= (n.881-29C=) c.560-29C= (n.560-29C=) c.833-11C= (n.833-11C=) c.725-29C= (n.725-29C=) c.*207-11C= (n.*207-11C=) c.392-29C= (n.392-29C=) c.725-11C= (n.725-11C=) c.878-11C= (n.878-11C=) c.830-11C= (n.830-11C=) c.713-11C= (n.713-11C=) c.713-29C= (n.713-29C=) | |
3 | g.69951801C>T | CA909889161 | MITF | c.833-29C>T (n.833-29C>T) c.830-29C>T (n.830-29C>T) n.1055-29C>T c.806-29C>T (n.806-29C>T) c.881-11C>T (n.881-11C>T) c.560-11C>T (n.560-11C>T) c.878-29C>T (n.878-29C>T) c.881-29C>T (n.881-29C>T) c.560-29C>T (n.560-29C>T) c.833-11C>T (n.833-11C>T) c.725-29C>T (n.725-29C>T) c.*207-11C>T (n.*207-11C>T) c.392-29C>T (n.392-29C>T) c.725-11C>T (n.725-11C>T) c.878-11C>T (n.878-11C>T) c.830-11C>T (n.830-11C>T) c.713-11C>T (n.713-11C>T) c.713-29C>T (n.713-29C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.69951803C= | CA1373443472 | MITF | c.833-27C= (n.833-27C=) c.830-27C= (n.830-27C=) n.1055-27C= c.806-27C= (n.806-27C=) c.881-9C= (n.881-9C=) c.560-9C= (n.560-9C=) c.878-27C= (n.878-27C=) c.881-27C= (n.881-27C=) c.560-27C= (n.560-27C=) c.833-9C= (n.833-9C=) c.725-27C= (n.725-27C=) c.*207-9C= (n.*207-9C=) c.392-27C= (n.392-27C=) c.725-9C= (n.725-9C=) c.878-9C= (n.878-9C=) c.830-9C= (n.830-9C=) c.713-9C= (n.713-9C=) c.713-27C= (n.713-27C=) | |
3 | g.69951803C>G | CA2490503 | MITF | c.833-27C>G (n.833-27C>G) c.830-27C>G (n.830-27C>G) n.1055-27C>G c.806-27C>G (n.806-27C>G) c.881-9C>G (n.881-9C>G) c.560-9C>G (n.560-9C>G) c.878-27C>G (n.878-27C>G) c.881-27C>G (n.881-27C>G) c.560-27C>G (n.560-27C>G) c.833-9C>G (n.833-9C>G) c.725-27C>G (n.725-27C>G) c.*207-9C>G (n.*207-9C>G) c.392-27C>G (n.392-27C>G) c.725-9C>G (n.725-9C>G) c.878-9C>G (n.878-9C>G) c.830-9C>G (n.830-9C>G) c.713-9C>G (n.713-9C>G) c.713-27C>G (n.713-27C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69951803C>T | CA2490502 | MITF | c.833-27C>T (n.833-27C>T) c.830-27C>T (n.830-27C>T) n.1055-27C>T c.806-27C>T (n.806-27C>T) c.881-9C>T (n.881-9C>T) c.560-9C>T (n.560-9C>T) c.878-27C>T (n.878-27C>T) c.881-27C>T (n.881-27C>T) c.560-27C>T (n.560-27C>T) c.833-9C>T (n.833-9C>T) c.725-27C>T (n.725-27C>T) c.*207-9C>T (n.*207-9C>T) c.392-27C>T (n.392-27C>T) c.725-9C>T (n.725-9C>T) c.878-9C>T (n.878-9C>T) c.830-9C>T (n.830-9C>T) c.713-9C>T (n.713-9C>T) c.713-27C>T (n.713-27C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69951804G>A | CA2490504 | MITF | c.833-26G>A (n.833-26G>A) c.830-26G>A (n.830-26G>A) n.1055-26G>A c.806-26G>A (n.806-26G>A) c.881-8G>A (n.881-8G>A) c.560-8G>A (n.560-8G>A) c.878-26G>A (n.878-26G>A) c.881-26G>A (n.881-26G>A) c.560-26G>A (n.560-26G>A) c.833-8G>A (n.833-8G>A) c.725-26G>A (n.725-26G>A) c.*207-8G>A (n.*207-8G>A) c.392-26G>A (n.392-26G>A) c.725-8G>A (n.725-8G>A) c.878-8G>A (n.878-8G>A) c.830-8G>A (n.830-8G>A) c.713-8G>A (n.713-8G>A) c.713-26G>A (n.713-26G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69951804G= | CA1373443478 | MITF | c.833-26G= (n.833-26G=) c.830-26G= (n.830-26G=) n.1055-26G= c.806-26G= (n.806-26G=) c.881-8G= (n.881-8G=) c.560-8G= (n.560-8G=) c.878-26G= (n.878-26G=) c.881-26G= (n.881-26G=) c.560-26G= (n.560-26G=) c.833-8G= (n.833-8G=) c.725-26G= (n.725-26G=) c.*207-8G= (n.*207-8G=) c.392-26G= (n.392-26G=) c.725-8G= (n.725-8G=) c.878-8G= (n.878-8G=) c.830-8G= (n.830-8G=) c.713-8G= (n.713-8G=) c.713-26G= (n.713-26G=) | |
3 | g.69951804G>T | CA2519706350 | MITF | c.833-26G>T (n.833-26G>T) c.830-26G>T (n.830-26G>T) n.1055-26G>T c.806-26G>T (n.806-26G>T) c.881-8G>T (n.881-8G>T) c.560-8G>T (n.560-8G>T) c.878-26G>T (n.878-26G>T) c.881-26G>T (n.881-26G>T) c.560-26G>T (n.560-26G>T) c.833-8G>T (n.833-8G>T) c.725-26G>T (n.725-26G>T) c.*207-8G>T (n.*207-8G>T) c.392-26G>T (n.392-26G>T) c.725-8G>T (n.725-8G>T) c.878-8G>T (n.878-8G>T) c.830-8G>T (n.830-8G>T) c.713-8G>T (n.713-8G>T) c.713-26G>T (n.713-26G>T) | |
3 | g.69951805T>A | CA2490505 | MITF | c.833-25T>A (n.833-25T>A) c.830-25T>A (n.830-25T>A) n.1055-25T>A c.806-25T>A (n.806-25T>A) c.881-7T>A (n.881-7T>A) c.560-7T>A (n.560-7T>A) c.878-25T>A (n.878-25T>A) c.881-25T>A (n.881-25T>A) c.560-25T>A (n.560-25T>A) c.833-7T>A (n.833-7T>A) c.725-25T>A (n.725-25T>A) c.*207-7T>A (n.*207-7T>A) c.392-25T>A (n.392-25T>A) c.725-7T>A (n.725-7T>A) c.878-7T>A (n.878-7T>A) c.830-7T>A (n.830-7T>A) c.713-7T>A (n.713-7T>A) c.713-25T>A (n.713-25T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69951805T>C | CA2666480712 | MITF | c.833-25T>C (n.833-25T>C) c.830-25T>C (n.830-25T>C) n.1055-25T>C c.806-25T>C (n.806-25T>C) c.881-7T>C (n.881-7T>C) c.560-7T>C (n.560-7T>C) c.878-25T>C (n.878-25T>C) c.881-25T>C (n.881-25T>C) c.560-25T>C (n.560-25T>C) c.833-7T>C (n.833-7T>C) c.725-25T>C (n.725-25T>C) c.*207-7T>C (n.*207-7T>C) c.392-25T>C (n.392-25T>C) c.725-7T>C (n.725-7T>C) c.878-7T>C (n.878-7T>C) c.830-7T>C (n.830-7T>C) c.713-7T>C (n.713-7T>C) c.713-25T>C (n.713-25T>C) | gnomAD v4 |
3 | g.69951805T= | CA1373443482 | MITF | c.833-25T= (n.833-25T=) c.830-25T= (n.830-25T=) n.1055-25T= c.806-25T= (n.806-25T=) c.881-7T= (n.881-7T=) c.560-7T= (n.560-7T=) c.878-25T= (n.878-25T=) c.881-25T= (n.881-25T=) c.560-25T= (n.560-25T=) c.833-7T= (n.833-7T=) c.725-25T= (n.725-25T=) c.*207-7T= (n.*207-7T=) c.392-25T= (n.392-25T=) c.725-7T= (n.725-7T=) c.878-7T= (n.878-7T=) c.830-7T= (n.830-7T=) c.713-7T= (n.713-7T=) c.713-25T= (n.713-25T=) | |
3 | g.69951806del | CA2666480713 | MITF | c.833-24del (n.833-24del) c.830-24del (n.830-24del) n.1055-24del c.806-24del (n.806-24del) c.881-6del (n.881-6del) c.560-6del (n.560-6del) c.878-24del (n.878-24del) c.881-24del (n.881-24del) c.560-24del (n.560-24del) c.833-6del (n.833-6del) c.725-24del (n.725-24del) c.*207-6del (n.*207-6del) c.392-24del (n.392-24del) c.725-6del (n.725-6del) c.878-6del (n.878-6del) c.830-6del (n.830-6del) c.713-6del (n.713-6del) c.713-24del (n.713-24del) | gnomAD v4 |
3 | g.69951806G>A | CA2490506 | MITF | c.833-24G>A (n.833-24G>A) c.830-24G>A (n.830-24G>A) n.1055-24G>A c.806-24G>A (n.806-24G>A) c.881-6G>A (n.881-6G>A) c.560-6G>A (n.560-6G>A) c.878-24G>A (n.878-24G>A) c.881-24G>A (n.881-24G>A) c.560-24G>A (n.560-24G>A) c.833-6G>A (n.833-6G>A) c.725-24G>A (n.725-24G>A) c.*207-6G>A (n.*207-6G>A) c.392-24G>A (n.392-24G>A) c.725-6G>A (n.725-6G>A) c.878-6G>A (n.878-6G>A) c.830-6G>A (n.830-6G>A) c.713-6G>A (n.713-6G>A) c.713-24G>A (n.713-24G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69951806G= | CA1373443487 | MITF | c.833-24G= (n.833-24G=) c.830-24G= (n.830-24G=) n.1055-24G= c.806-24G= (n.806-24G=) c.881-6G= (n.881-6G=) c.560-6G= (n.560-6G=) c.878-24G= (n.878-24G=) c.881-24G= (n.881-24G=) c.560-24G= (n.560-24G=) c.833-6G= (n.833-6G=) c.725-24G= (n.725-24G=) c.*207-6G= (n.*207-6G=) c.392-24G= (n.392-24G=) c.725-6G= (n.725-6G=) c.878-6G= (n.878-6G=) c.830-6G= (n.830-6G=) c.713-6G= (n.713-6G=) c.713-24G= (n.713-24G=) | |
3 | g.69951806G>T | CA1373443485 | MITF | c.833-24G>T (n.833-24G>T) c.830-24G>T (n.830-24G>T) n.1055-24G>T c.806-24G>T (n.806-24G>T) c.881-6G>T (n.881-6G>T) c.560-6G>T (n.560-6G>T) c.878-24G>T (n.878-24G>T) c.881-24G>T (n.881-24G>T) c.560-24G>T (n.560-24G>T) c.833-6G>T (n.833-6G>T) c.725-24G>T (n.725-24G>T) c.*207-6G>T (n.*207-6G>T) c.392-24G>T (n.392-24G>T) c.725-6G>T (n.725-6G>T) c.878-6G>T (n.878-6G>T) c.830-6G>T (n.830-6G>T) c.713-6G>T (n.713-6G>T) c.713-24G>T (n.713-24G>T) | dbSNP gnomAD v4 |
3 | g.69951806_69951808del | CA2577819623 | MITF | c.833-24_833-22del (n.833-24_833-22del) c.830-24_830-22del (n.830-24_830-22del) n.1055-24_1055-22del c.806-24_806-22del (n.806-24_806-22del) c.881-6_881-4del (n.881-6_881-4del) c.560-6_560-4del (n.560-6_560-4del) c.878-24_878-22del (n.878-24_878-22del) c.881-24_881-22del (n.881-24_881-22del) c.560-24_560-22del (n.560-24_560-22del) c.833-6_833-4del (n.833-6_833-4del) c.725-24_725-22del (n.725-24_725-22del) c.*207-6_*207-4del (n.*207-6_*207-4del) c.392-24_392-22del (n.392-24_392-22del) c.725-6_725-4del (n.725-6_725-4del) c.878-6_878-4del (n.878-6_878-4del) c.830-6_830-4del (n.830-6_830-4del) c.713-6_713-4del (n.713-6_713-4del) c.713-24_713-22del (n.713-24_713-22del) | |
3 | g.69951807C>A | CA2666480714 | MITF | c.833-23C>A (n.833-23C>A) c.830-23C>A (n.830-23C>A) n.1055-23C>A c.806-23C>A (n.806-23C>A) c.881-5C>A (n.881-5C>A) c.560-5C>A (n.560-5C>A) c.878-23C>A (n.878-23C>A) c.881-23C>A (n.881-23C>A) c.560-23C>A (n.560-23C>A) c.833-5C>A (n.833-5C>A) c.725-23C>A (n.725-23C>A) c.*207-5C>A (n.*207-5C>A) c.392-23C>A (n.392-23C>A) c.725-5C>A (n.725-5C>A) c.878-5C>A (n.878-5C>A) c.830-5C>A (n.830-5C>A) c.713-5C>A (n.713-5C>A) c.713-23C>A (n.713-23C>A) | gnomAD v4 |
3 | g.69951808A>G | CA2666480715 | MITF | c.833-22A>G (n.833-22A>G) c.830-22A>G (n.830-22A>G) n.1055-22A>G c.806-22A>G (n.806-22A>G) c.881-4A>G (n.881-4A>G) c.560-4A>G (n.560-4A>G) c.878-22A>G (n.878-22A>G) c.881-22A>G (n.881-22A>G) c.560-22A>G (n.560-22A>G) c.833-4A>G (n.833-4A>G) c.725-22A>G (n.725-22A>G) c.*207-4A>G (n.*207-4A>G) c.392-22A>G (n.392-22A>G) c.725-4A>G (n.725-4A>G) c.878-4A>G (n.878-4A>G) c.830-4A>G (n.830-4A>G) c.713-4A>G (n.713-4A>G) c.713-22A>G (n.713-22A>G) | gnomAD v4 |
3 | g.69951809C= | CA1373443489 | MITF | c.833-21C= (n.833-21C=) c.830-21C= (n.830-21C=) n.1055-21C= c.806-21C= (n.806-21C=) c.881-3C= (n.881-3C=) c.560-3C= (n.560-3C=) c.878-21C= (n.878-21C=) c.881-21C= (n.881-21C=) c.560-21C= (n.560-21C=) c.833-3C= (n.833-3C=) c.725-21C= (n.725-21C=) c.*207-3C= (n.*207-3C=) c.392-21C= (n.392-21C=) c.725-3C= (n.725-3C=) c.878-3C= (n.878-3C=) c.830-3C= (n.830-3C=) c.713-3C= (n.713-3C=) c.713-21C= (n.713-21C=) | |
3 | g.69951809C>T | CA543813032 | MITF | c.833-21C>T (n.833-21C>T) c.830-21C>T (n.830-21C>T) n.1055-21C>T c.806-21C>T (n.806-21C>T) c.881-3C>T (n.881-3C>T) c.560-3C>T (n.560-3C>T) c.878-21C>T (n.878-21C>T) c.881-21C>T (n.881-21C>T) c.560-21C>T (n.560-21C>T) c.833-3C>T (n.833-3C>T) c.725-21C>T (n.725-21C>T) c.*207-3C>T (n.*207-3C>T) c.392-21C>T (n.392-21C>T) c.725-3C>T (n.725-3C>T) c.878-3C>T (n.878-3C>T) c.830-3C>T (n.830-3C>T) c.713-3C>T (n.713-3C>T) c.713-21C>T (n.713-21C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.69951809_69951818del | CA2666480716 | MITF | c.833-21_833-12del (n.833-21_833-12del) c.830-21_830-12del (n.830-21_830-12del) n.1055-21_1055-12del c.806-21_806-12del (n.806-21_806-12del) c.881-3_887del c.560-3_566del c.878-21_878-12del (n.878-21_878-12del) c.881-21_881-12del (n.881-21_881-12del) c.560-21_560-12del (n.560-21_560-12del) c.833-3_839del c.725-21_725-12del (n.725-21_725-12del) c.*207-3_*213del c.392-21_392-12del (n.392-21_392-12del) c.725-3_731del c.878-3_884del c.830-3_836del c.713-3_719del c.713-21_713-12del (n.713-21_713-12del) | gnomAD v4 |
3 | g.69951810A>C | CA353561494 | MITF | c.833-20A>C (n.833-20A>C) c.830-20A>C (n.830-20A>C) n.1055-20A>C c.806-20A>C (n.806-20A>C) c.881-2A>C (n.881-2A>C) c.560-2A>C (n.560-2A>C) c.878-20A>C (n.878-20A>C) c.881-20A>C (n.881-20A>C) c.560-20A>C (n.560-20A>C) c.833-2A>C (n.833-2A>C) c.725-20A>C (n.725-20A>C) c.*207-2A>C (n.*207-2A>C) c.392-20A>C (n.392-20A>C) c.725-2A>C (n.725-2A>C) c.878-2A>C (n.878-2A>C) c.830-2A>C (n.830-2A>C) c.713-2A>C (n.713-2A>C) c.713-20A>C (n.713-20A>C) | |
3 | g.69951810A>G | CA353561495 | MITF | c.833-20A>G (n.833-20A>G) c.830-20A>G (n.830-20A>G) n.1055-20A>G c.806-20A>G (n.806-20A>G) c.881-2A>G (n.881-2A>G) c.560-2A>G (n.560-2A>G) c.878-20A>G (n.878-20A>G) c.881-20A>G (n.881-20A>G) c.560-20A>G (n.560-20A>G) c.833-2A>G (n.833-2A>G) c.725-20A>G (n.725-20A>G) c.*207-2A>G (n.*207-2A>G) c.392-20A>G (n.392-20A>G) c.725-2A>G (n.725-2A>G) c.878-2A>G (n.878-2A>G) c.830-2A>G (n.830-2A>G) c.713-2A>G (n.713-2A>G) c.713-20A>G (n.713-20A>G) | gnomAD v4 COSMIC |
3 | g.69951810A>T | CA353561496 | MITF | c.833-20A>T (n.833-20A>T) c.830-20A>T (n.830-20A>T) n.1055-20A>T c.806-20A>T (n.806-20A>T) c.881-2A>T (n.881-2A>T) c.560-2A>T (n.560-2A>T) c.878-20A>T (n.878-20A>T) c.881-20A>T (n.881-20A>T) c.560-20A>T (n.560-20A>T) c.833-2A>T (n.833-2A>T) c.725-20A>T (n.725-20A>T) c.*207-2A>T (n.*207-2A>T) c.392-20A>T (n.392-20A>T) c.725-2A>T (n.725-2A>T) c.878-2A>T (n.878-2A>T) c.830-2A>T (n.830-2A>T) c.713-2A>T (n.713-2A>T) c.713-20A>T (n.713-20A>T) | |
3 | g.69951811G>A | CA353561497 | MITF | c.833-19G>A (n.833-19G>A) c.830-19G>A (n.830-19G>A) n.1055-19G>A c.806-19G>A (n.806-19G>A) c.881-1G>A (n.881-1G>A) c.560-1G>A (n.560-1G>A) c.878-19G>A (n.878-19G>A) c.881-19G>A (n.881-19G>A) c.560-19G>A (n.560-19G>A) c.833-1G>A (n.833-1G>A) c.725-19G>A (n.725-19G>A) c.*207-1G>A (n.*207-1G>A) c.392-19G>A (n.392-19G>A) c.725-1G>A (n.725-1G>A) c.878-1G>A (n.878-1G>A) c.830-1G>A (n.830-1G>A) c.713-1G>A (n.713-1G>A) c.713-19G>A (n.713-19G>A) | |
3 | g.69951811G>C | CA353561498 | MITF | c.833-19G>C (n.833-19G>C) c.830-19G>C (n.830-19G>C) n.1055-19G>C c.806-19G>C (n.806-19G>C) c.881-1G>C (n.881-1G>C) c.560-1G>C (n.560-1G>C) c.878-19G>C (n.878-19G>C) c.881-19G>C (n.881-19G>C) c.560-19G>C (n.560-19G>C) c.833-1G>C (n.833-1G>C) c.725-19G>C (n.725-19G>C) c.*207-1G>C (n.*207-1G>C) c.392-19G>C (n.392-19G>C) c.725-1G>C (n.725-1G>C) c.878-1G>C (n.878-1G>C) c.830-1G>C (n.830-1G>C) c.713-1G>C (n.713-1G>C) c.713-19G>C (n.713-19G>C) | COSMIC |
3 | g.69951811G>T | CA353561499 | MITF | c.833-19G>T (n.833-19G>T) c.830-19G>T (n.830-19G>T) n.1055-19G>T c.806-19G>T (n.806-19G>T) c.881-1G>T (n.881-1G>T) c.560-1G>T (n.560-1G>T) c.878-19G>T (n.878-19G>T) c.881-19G>T (n.881-19G>T) c.560-19G>T (n.560-19G>T) c.833-1G>T (n.833-1G>T) c.725-19G>T (n.725-19G>T) c.*207-1G>T (n.*207-1G>T) c.392-19G>T (n.392-19G>T) c.725-1G>T (n.725-1G>T) c.878-1G>T (n.878-1G>T) c.830-1G>T (n.830-1G>T) c.713-1G>T (n.713-1G>T) c.713-19G>T (n.713-19G>T) | |
3 | g.69951811_69951818del | CA2577819624 | MITF | c.833-19_833-12del (n.833-19_833-12del) c.830-19_830-12del (n.830-19_830-12del) n.1055-19_1055-12del c.806-19_806-12del (n.806-19_806-12del) c.881-1_887del c.560-1_566del c.878-19_878-12del (n.878-19_878-12del) c.881-19_881-12del (n.881-19_881-12del) c.560-19_560-12del (n.560-19_560-12del) c.833-1_839del c.725-19_725-12del (n.725-19_725-12del) c.*207-1_*213del c.392-19_392-12del (n.392-19_392-12del) c.725-1_731del c.878-1_884del c.830-1_836del c.713-1_719del c.713-19_713-12del (n.713-19_713-12del) | |
3 | g.69951812C>A | CA353561500 | MITF | c.833-18C>A (n.833-18C>A) c.830-18C>A (n.830-18C>A) n.1055-18C>A c.806-18C>A (n.806-18C>A) c.881C>A (p.Ala294Glu) c.560C>A (p.Ala187Glu) c.878-18C>A (n.878-18C>A) c.881-18C>A (n.881-18C>A) c.560-18C>A (n.560-18C>A) c.833C>A (p.Ala278Glu) c.725-18C>A (n.725-18C>A) c.*207C>A (n.*207C>A) c.392-18C>A (n.392-18C>A) c.725C>A (p.Ala242Glu) c.878C>A (p.Ala293Glu) c.830C>A (p.Ala277Glu) c.713C>A (p.Ala238Glu) c.713-18C>A (n.713-18C>A) | gnomAD v4 |
3 | g.69951812C= | CA1373443495 | MITF | c.833-18C= (n.833-18C=) c.830-18C= (n.830-18C=) n.1055-18C= c.806-18C= (n.806-18C=) c.881C= (p.Ala294=) c.560C= (p.Ala187=) c.878-18C= (n.878-18C=) c.881-18C= (n.881-18C=) c.560-18C= (n.560-18C=) c.833C= (p.Ala278=) c.725-18C= (n.725-18C=) c.*207C= (n.*207C=) c.392-18C= (n.392-18C=) c.725C= (p.Ala242=) c.878C= (p.Ala293=) c.830C= (p.Ala277=) c.713C= (p.Ala238=) c.713-18C= (n.713-18C=) | |
3 | g.69951812C>G | CA353561501 | MITF | c.833-18C>G (n.833-18C>G) c.830-18C>G (n.830-18C>G) n.1055-18C>G c.806-18C>G (n.806-18C>G) c.881C>G (p.Ala294Gly) c.560C>G (p.Ala187Gly) c.878-18C>G (n.878-18C>G) c.881-18C>G (n.881-18C>G) c.560-18C>G (n.560-18C>G) c.833C>G (p.Ala278Gly) c.725-18C>G (n.725-18C>G) c.*207C>G (n.*207C>G) c.392-18C>G (n.392-18C>G) c.725C>G (p.Ala242Gly) c.878C>G (p.Ala293Gly) c.830C>G (p.Ala277Gly) c.713C>G (p.Ala238Gly) c.713-18C>G (n.713-18C>G) | |
3 | g.69951812C>T | CA2490507 | MITF | c.833-18C>T (n.833-18C>T) c.830-18C>T (n.830-18C>T) n.1055-18C>T c.806-18C>T (n.806-18C>T) c.881C>T (p.Ala294Val) c.560C>T (p.Ala187Val) c.878-18C>T (n.878-18C>T) c.881-18C>T (n.881-18C>T) c.560-18C>T (n.560-18C>T) c.833C>T (p.Ala278Val) c.725-18C>T (n.725-18C>T) c.*207C>T (n.*207C>T) c.392-18C>T (n.392-18C>T) c.725C>T (p.Ala242Val) c.878C>T (p.Ala293Val) c.830C>T (p.Ala277Val) c.713C>T (p.Ala238Val) c.713-18C>T (n.713-18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69951813G>A | CA2490508 | MITF | c.833-17G>A (n.833-17G>A) c.830-17G>A (n.830-17G>A) n.1055-17G>A c.806-17G>A (n.806-17G>A) c.882G>A (p.Ala294=) c.561G>A (p.Ala187=) c.878-17G>A (n.878-17G>A) c.881-17G>A (n.881-17G>A) c.560-17G>A (n.560-17G>A) c.834G>A (p.Ala278=) c.725-17G>A (n.725-17G>A) c.*208G>A (n.*208G>A) c.392-17G>A (n.392-17G>A) c.726G>A (p.Ala242=) c.879G>A (p.Ala293=) c.831G>A (p.Ala277=) c.714G>A (p.Ala238=) c.713-17G>A (n.713-17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.69951813G= | CA1373443498 | MITF | c.833-17G= (n.833-17G=) c.830-17G= (n.830-17G=) n.1055-17G= c.806-17G= (n.806-17G=) c.882G= (p.Ala294=) c.561G= (p.Ala187=) c.878-17G= (n.878-17G=) c.881-17G= (n.881-17G=) c.560-17G= (n.560-17G=) c.834G= (p.Ala278=) c.725-17G= (n.725-17G=) c.*208G= (n.*208G=) c.392-17G= (n.392-17G=) c.726G= (p.Ala242=) c.879G= (p.Ala293=) c.831G= (p.Ala277=) c.714G= (p.Ala238=) c.713-17G= (n.713-17G=) | |
3 | g.69951814T>A | CA353561502 | MITF | c.833-16T>A (n.833-16T>A) c.830-16T>A (n.830-16T>A) n.1055-16T>A c.806-16T>A (n.806-16T>A) c.883T>A (p.Cys295Ser) c.562T>A (p.Cys188Ser) c.878-16T>A (n.878-16T>A) c.881-16T>A (n.881-16T>A) c.560-16T>A (n.560-16T>A) c.835T>A (p.Cys279Ser) c.725-16T>A (n.725-16T>A) c.*209T>A (n.*209T>A) c.392-16T>A (n.392-16T>A) c.727T>A (p.Cys243Ser) c.880T>A (p.Cys294Ser) c.832T>A (p.Cys278Ser) c.715T>A (p.Cys239Ser) c.713-16T>A (n.713-16T>A) | |
3 | g.69951814T>C | CA353561503 | MITF | c.833-16T>C (n.833-16T>C) c.830-16T>C (n.830-16T>C) n.1055-16T>C c.806-16T>C (n.806-16T>C) c.883T>C (p.Cys295Arg) c.562T>C (p.Cys188Arg) c.878-16T>C (n.878-16T>C) c.881-16T>C (n.881-16T>C) c.560-16T>C (n.560-16T>C) c.835T>C (p.Cys279Arg) c.725-16T>C (n.725-16T>C) c.*209T>C (n.*209T>C) c.392-16T>C (n.392-16T>C) c.727T>C (p.Cys243Arg) c.880T>C (p.Cys294Arg) c.832T>C (p.Cys278Arg) c.715T>C (p.Cys239Arg) c.713-16T>C (n.713-16T>C) | |
3 | g.69951814T>G | CA353561504 | MITF | c.833-16T>G (n.833-16T>G) c.830-16T>G (n.830-16T>G) n.1055-16T>G c.806-16T>G (n.806-16T>G) c.883T>G (p.Cys295Gly) c.562T>G (p.Cys188Gly) c.878-16T>G (n.878-16T>G) c.881-16T>G (n.881-16T>G) c.560-16T>G (n.560-16T>G) c.835T>G (p.Cys279Gly) c.725-16T>G (n.725-16T>G) c.*209T>G (n.*209T>G) c.392-16T>G (n.392-16T>G) c.727T>G (p.Cys243Gly) c.880T>G (p.Cys294Gly) c.832T>G (p.Cys278Gly) c.715T>G (p.Cys239Gly) c.713-16T>G (n.713-16T>G) | |
3 | g.69951815G>A | CA353561505 | MITF | c.833-15G>A (n.833-15G>A) c.830-15G>A (n.830-15G>A) n.1055-15G>A c.806-15G>A (n.806-15G>A) c.884G>A (p.Cys295Tyr) c.563G>A (p.Cys188Tyr) c.878-15G>A (n.878-15G>A) c.881-15G>A (n.881-15G>A) c.560-15G>A (n.560-15G>A) c.836G>A (p.Cys279Tyr) c.725-15G>A (n.725-15G>A) c.*210G>A (n.*210G>A) c.392-15G>A (n.392-15G>A) c.728G>A (p.Cys243Tyr) c.881G>A (p.Cys294Tyr) c.833G>A (p.Cys278Tyr) c.716G>A (p.Cys239Tyr) c.713-15G>A (n.713-15G>A) | ClinVar gnomAD v4 |
3 | g.69951815G>C | CA353561506 | MITF | c.833-15G>C (n.833-15G>C) c.830-15G>C (n.830-15G>C) n.1055-15G>C c.806-15G>C (n.806-15G>C) c.884G>C (p.Cys295Ser) c.563G>C (p.Cys188Ser) c.878-15G>C (n.878-15G>C) c.881-15G>C (n.881-15G>C) c.560-15G>C (n.560-15G>C) c.836G>C (p.Cys279Ser) c.725-15G>C (n.725-15G>C) c.*210G>C (n.*210G>C) c.392-15G>C (n.392-15G>C) c.728G>C (p.Cys243Ser) c.881G>C (p.Cys294Ser) c.833G>C (p.Cys278Ser) c.716G>C (p.Cys239Ser) c.713-15G>C (n.713-15G>C) | |
3 | g.69951815G>T | CA353561507 | MITF | c.833-15G>T (n.833-15G>T) c.830-15G>T (n.830-15G>T) n.1055-15G>T c.806-15G>T (n.806-15G>T) c.884G>T (p.Cys295Phe) c.563G>T (p.Cys188Phe) c.878-15G>T (n.878-15G>T) c.881-15G>T (n.881-15G>T) c.560-15G>T (n.560-15G>T) c.836G>T (p.Cys279Phe) c.725-15G>T (n.725-15G>T) c.*210G>T (n.*210G>T) c.392-15G>T (n.392-15G>T) c.728G>T (p.Cys243Phe) c.881G>T (p.Cys294Phe) c.833G>T (p.Cys278Phe) c.716G>T (p.Cys239Phe) c.713-15G>T (n.713-15G>T) | gnomAD v4 |
3 | g.69951816T>A | CA353561508 | MITF | c.833-14T>A (n.833-14T>A) c.830-14T>A (n.830-14T>A) n.1055-14T>A c.806-14T>A (n.806-14T>A) c.885T>A (p.Cys295Ter) c.564T>A (p.Cys188Ter) c.878-14T>A (n.878-14T>A) c.881-14T>A (n.881-14T>A) c.560-14T>A (n.560-14T>A) c.837T>A (p.Cys279Ter) c.725-14T>A (n.725-14T>A) c.*211T>A (n.*211T>A) c.392-14T>A (n.392-14T>A) c.729T>A (p.Cys243Ter) c.882T>A (p.Cys294Ter) c.834T>A (p.Cys278Ter) c.717T>A (p.Cys239Ter) c.713-14T>A (n.713-14T>A) | |
3 | g.69951816T>G | CA353561509 | MITF | c.833-14T>G (n.833-14T>G) c.830-14T>G (n.830-14T>G) n.1055-14T>G c.806-14T>G (n.806-14T>G) c.885T>G (p.Cys295Trp) c.564T>G (p.Cys188Trp) c.878-14T>G (n.878-14T>G) c.881-14T>G (n.881-14T>G) c.560-14T>G (n.560-14T>G) c.837T>G (p.Cys279Trp) c.725-14T>G (n.725-14T>G) c.*211T>G (n.*211T>G) c.392-14T>G (n.392-14T>G) c.729T>G (p.Cys243Trp) c.882T>G (p.Cys294Trp) c.834T>G (p.Cys278Trp) c.717T>G (p.Cys239Trp) c.713-14T>G (n.713-14T>G) | |
3 | g.69951817A= | CA1373443504 | MITF | c.833-13A= (n.833-13A=) c.830-13A= (n.830-13A=) n.1055-13A= c.806-13A= (n.806-13A=) c.886A= (p.Ile296=) c.565A= (p.Ile189=) c.878-13A= (n.878-13A=) c.881-13A= (n.881-13A=) c.560-13A= (n.560-13A=) c.838A= (p.Ile280=) c.725-13A= (n.725-13A=) c.*212A= (n.*212A=) c.392-13A= (n.392-13A=) c.730A= (p.Ile244=) c.883A= (p.Ile295=) c.835A= (p.Ile279=) c.718A= (p.Ile240=) c.713-13A= (n.713-13A=) | |
3 | g.69951817A>C | CA353561510 | MITF | c.833-13A>C (n.833-13A>C) c.830-13A>C (n.830-13A>C) n.1055-13A>C c.806-13A>C (n.806-13A>C) c.886A>C (p.Ile296Leu) c.565A>C (p.Ile189Leu) c.878-13A>C (n.878-13A>C) c.881-13A>C (n.881-13A>C) c.560-13A>C (n.560-13A>C) c.838A>C (p.Ile280Leu) c.725-13A>C (n.725-13A>C) c.*212A>C (n.*212A>C) c.392-13A>C (n.392-13A>C) c.730A>C (p.Ile244Leu) c.883A>C (p.Ile295Leu) c.835A>C (p.Ile279Leu) c.718A>C (p.Ile240Leu) c.713-13A>C (n.713-13A>C) | |
3 | g.69951817A>G | CA353561511 | MITF | c.833-13A>G (n.833-13A>G) c.830-13A>G (n.830-13A>G) n.1055-13A>G c.806-13A>G (n.806-13A>G) c.886A>G (p.Ile296Val) c.565A>G (p.Ile189Val) c.878-13A>G (n.878-13A>G) c.881-13A>G (n.881-13A>G) c.560-13A>G (n.560-13A>G) c.838A>G (p.Ile280Val) c.725-13A>G (n.725-13A>G) c.*212A>G (n.*212A>G) c.392-13A>G (n.392-13A>G) c.730A>G (p.Ile244Val) c.883A>G (p.Ile295Val) c.835A>G (p.Ile279Val) c.718A>G (p.Ile240Val) c.713-13A>G (n.713-13A>G) | gnomAD v4 |
3 | g.69951817A>T | CA353561512 | MITF | c.833-13A>T (n.833-13A>T) c.830-13A>T (n.830-13A>T) n.1055-13A>T c.806-13A>T (n.806-13A>T) c.886A>T (p.Ile296Phe) c.565A>T (p.Ile189Phe) c.878-13A>T (n.878-13A>T) c.881-13A>T (n.881-13A>T) c.560-13A>T (n.560-13A>T) c.838A>T (p.Ile280Phe) c.725-13A>T (n.725-13A>T) c.*212A>T (n.*212A>T) c.392-13A>T (n.392-13A>T) c.730A>T (p.Ile244Phe) c.883A>T (p.Ile295Phe) c.835A>T (p.Ile279Phe) c.718A>T (p.Ile240Phe) c.713-13A>T (n.713-13A>T) | |
3 | g.69951818T>A | CA353561515 | MITF | c.833-12T>A (n.833-12T>A) c.830-12T>A (n.830-12T>A) n.1055-12T>A c.806-12T>A (n.806-12T>A) c.887T>A (p.Ile296Asn) c.566T>A (p.Ile189Asn) c.878-12T>A (n.878-12T>A) c.881-12T>A (n.881-12T>A) c.560-12T>A (n.560-12T>A) c.839T>A (p.Ile280Asn) c.725-12T>A (n.725-12T>A) c.*213T>A (n.*213T>A) c.392-12T>A (n.392-12T>A) c.731T>A (p.Ile244Asn) c.884T>A (p.Ile295Asn) c.836T>A (p.Ile279Asn) c.719T>A (p.Ile240Asn) c.713-12T>A (n.713-12T>A) | |
3 | g.69951818T>C | CA353561514 | MITF | c.833-12T>C (n.833-12T>C) c.830-12T>C (n.830-12T>C) n.1055-12T>C c.806-12T>C (n.806-12T>C) c.887T>C (p.Ile296Thr) c.566T>C (p.Ile189Thr) c.878-12T>C (n.878-12T>C) c.881-12T>C (n.881-12T>C) c.560-12T>C (n.560-12T>C) c.839T>C (p.Ile280Thr) c.725-12T>C (n.725-12T>C) c.*213T>C (n.*213T>C) c.392-12T>C (n.392-12T>C) c.731T>C (p.Ile244Thr) c.884T>C (p.Ile295Thr) c.836T>C (p.Ile279Thr) c.719T>C (p.Ile240Thr) c.713-12T>C (n.713-12T>C) | |
3 | g.69951818T>G | CA353561513 | MITF | c.833-12T>G (n.833-12T>G) c.830-12T>G (n.830-12T>G) n.1055-12T>G c.806-12T>G (n.806-12T>G) c.887T>G (p.Ile296Ser) c.566T>G (p.Ile189Ser) c.878-12T>G (n.878-12T>G) c.881-12T>G (n.881-12T>G) c.560-12T>G (n.560-12T>G) c.839T>G (p.Ile280Ser) c.725-12T>G (n.725-12T>G) c.*213T>G (n.*213T>G) c.392-12T>G (n.392-12T>G) c.731T>G (p.Ile244Ser) c.884T>G (p.Ile295Ser) c.836T>G (p.Ile279Ser) c.719T>G (p.Ile240Ser) c.713-12T>G (n.713-12T>G) | |
3 | g.69951822dup | CA1373443507 | MITF | c.833-8dup (n.833-8dup) c.830-8dup (n.830-8dup) n.1055-8dup c.806-8dup (n.806-8dup) c.891dup (p.Pro298SerfsTer5) c.570dup (p.Pro191SerfsTer5) c.878-8dup (n.878-8dup) c.881-8dup (n.881-8dup) c.560-8dup (n.560-8dup) c.843dup (p.Pro282SerfsTer5) c.725-8dup (n.725-8dup) c.*217dup (n.*217dup) c.392-8dup (n.392-8dup) c.735dup (p.Pro246SerfsTer5) c.888dup (p.Pro297SerfsTer5) c.840dup (p.Pro281SerfsTer5) c.723dup (p.Pro242SerfsTer5) c.713-8dup (n.713-8dup) | dbSNP |
3 | g.69951822del | CA2702972924 | MITF | c.833-8del (n.833-8del) c.830-8del (n.830-8del) n.1055-8del c.806-8del (n.806-8del) c.891del (p.Thr299GlnfsTer20) c.570del (p.Thr192GlnfsTer20) c.878-8del (n.878-8del) c.881-8del (n.881-8del) c.560-8del (n.560-8del) c.843del (p.Thr283GlnfsTer20) c.725-8del (n.725-8del) c.*217del (n.*217del) c.392-8del (n.392-8del) c.735del (p.Thr247GlnfsTer20) c.888del (p.Thr298GlnfsTer20) c.840del (p.Thr282GlnfsTer20) c.723del (p.Thr243GlnfsTer20) c.713-8del (n.713-8del) | dbSNP |
3 | g.69951818_69951825dup | CA1373443508 | MITF | c.833-12_833-5dup (n.833-12_833-5dup) c.830-12_830-5dup (n.830-12_830-5dup) n.1055-12_1055-5dup c.806-12_806-5dup (n.806-12_806-5dup) c.887_894dup (p.Thr299PhefsTer23) c.566_573dup (p.Thr192PhefsTer23) c.878-12_878-5dup (n.878-12_878-5dup) c.881-12_881-5dup (n.881-12_881-5dup) c.560-12_560-5dup (n.560-12_560-5dup) c.839_846dup (p.Thr283PhefsTer23) c.725-12_725-5dup (n.725-12_725-5dup) c.*213_*220dup (n.*213_*220dup) c.392-12_392-5dup (n.392-12_392-5dup) c.731_738dup (p.Thr247PhefsTer23) c.884_891dup (p.Thr298PhefsTer23) c.836_843dup (p.Thr282PhefsTer23) c.719_726dup (p.Thr243PhefsTer23) c.713-12_713-5dup (n.713-12_713-5dup) | dbSNP gnomAD v4 |
3 | g.69951819T>G | CA353561516 | MITF | c.833-11T>G (n.833-11T>G) c.830-11T>G (n.830-11T>G) n.1055-11T>G c.806-11T>G (n.806-11T>G) c.888T>G (p.Ile296Met) c.567T>G (p.Ile189Met) c.878-11T>G (n.878-11T>G) c.881-11T>G (n.881-11T>G) c.560-11T>G (n.560-11T>G) c.840T>G (p.Ile280Met) c.725-11T>G (n.725-11T>G) c.*214T>G (n.*214T>G) c.392-11T>G (n.392-11T>G) c.732T>G (p.Ile244Met) c.885T>G (p.Ile295Met) c.837T>G (p.Ile279Met) c.720T>G (p.Ile240Met) c.713-11T>G (n.713-11T>G) | |
3 | g.69951820T>A | CA353561517 | MITF | c.833-10T>A (n.833-10T>A) c.830-10T>A (n.830-10T>A) n.1055-10T>A c.806-10T>A (n.806-10T>A) c.889T>A (p.Phe297Ile) c.568T>A (p.Phe190Ile) c.878-10T>A (n.878-10T>A) c.881-10T>A (n.881-10T>A) c.560-10T>A (n.560-10T>A) c.841T>A (p.Phe281Ile) c.725-10T>A (n.725-10T>A) c.*215T>A (n.*215T>A) c.392-10T>A (n.392-10T>A) c.733T>A (p.Phe245Ile) c.886T>A (p.Phe296Ile) c.838T>A (p.Phe280Ile) c.721T>A (p.Phe241Ile) c.713-10T>A (n.713-10T>A) | |
3 | g.69951820T>C | CA353561518 | MITF | c.833-10T>C (n.833-10T>C) c.830-10T>C (n.830-10T>C) n.1055-10T>C c.806-10T>C (n.806-10T>C) c.889T>C (p.Phe297Leu) c.568T>C (p.Phe190Leu) c.878-10T>C (n.878-10T>C) c.881-10T>C (n.881-10T>C) c.560-10T>C (n.560-10T>C) c.841T>C (p.Phe281Leu) c.725-10T>C (n.725-10T>C) c.*215T>C (n.*215T>C) c.392-10T>C (n.392-10T>C) c.733T>C (p.Phe245Leu) c.886T>C (p.Phe296Leu) c.838T>C (p.Phe280Leu) c.721T>C (p.Phe241Leu) c.713-10T>C (n.713-10T>C) | |
3 | g.69951820T>G | CA353561519 | MITF | c.833-10T>G (n.833-10T>G) c.830-10T>G (n.830-10T>G) n.1055-10T>G c.806-10T>G (n.806-10T>G) c.889T>G (p.Phe297Val) c.568T>G (p.Phe190Val) c.878-10T>G (n.878-10T>G) c.881-10T>G (n.881-10T>G) c.560-10T>G (n.560-10T>G) c.841T>G (p.Phe281Val) c.725-10T>G (n.725-10T>G) c.*215T>G (n.*215T>G) c.392-10T>G (n.392-10T>G) c.733T>G (p.Phe245Val) c.886T>G (p.Phe296Val) c.838T>G (p.Phe280Val) c.721T>G (p.Phe241Val) c.713-10T>G (n.713-10T>G) | |
3 | g.69951821T>A | CA353561520 | MITF | c.833-9T>A (n.833-9T>A) c.830-9T>A (n.830-9T>A) n.1055-9T>A c.806-9T>A (n.806-9T>A) c.890T>A (p.Phe297Tyr) c.569T>A (p.Phe190Tyr) c.878-9T>A (n.878-9T>A) c.881-9T>A (n.881-9T>A) c.560-9T>A (n.560-9T>A) c.842T>A (p.Phe281Tyr) c.725-9T>A (n.725-9T>A) c.*216T>A (n.*216T>A) c.392-9T>A (n.392-9T>A) c.734T>A (p.Phe245Tyr) c.887T>A (p.Phe296Tyr) c.839T>A (p.Phe280Tyr) c.722T>A (p.Phe241Tyr) c.713-9T>A (n.713-9T>A) | |
3 | g.69951821T>C | CA353561521 | MITF | c.833-9T>C (n.833-9T>C) c.830-9T>C (n.830-9T>C) n.1055-9T>C c.806-9T>C (n.806-9T>C) c.890T>C (p.Phe297Ser) c.569T>C (p.Phe190Ser) c.878-9T>C (n.878-9T>C) c.881-9T>C (n.881-9T>C) c.560-9T>C (n.560-9T>C) c.842T>C (p.Phe281Ser) c.725-9T>C (n.725-9T>C) c.*216T>C (n.*216T>C) c.392-9T>C (n.392-9T>C) c.734T>C (p.Phe245Ser) c.887T>C (p.Phe296Ser) c.839T>C (p.Phe280Ser) c.722T>C (p.Phe241Ser) c.713-9T>C (n.713-9T>C) | ClinVar |
3 | g.69951821T>G | CA353561522 | MITF | c.833-9T>G (n.833-9T>G) c.830-9T>G (n.830-9T>G) n.1055-9T>G c.806-9T>G (n.806-9T>G) c.890T>G (p.Phe297Cys) c.569T>G (p.Phe190Cys) c.878-9T>G (n.878-9T>G) c.881-9T>G (n.881-9T>G) c.560-9T>G (n.560-9T>G) c.842T>G (p.Phe281Cys) c.725-9T>G (n.725-9T>G) c.*216T>G (n.*216T>G) c.392-9T>G (n.392-9T>G) c.734T>G (p.Phe245Cys) c.887T>G (p.Phe296Cys) c.839T>G (p.Phe280Cys) c.722T>G (p.Phe241Cys) c.713-9T>G (n.713-9T>G) | |
3 | g.69951822T>A | CA353561523 | MITF | c.833-8T>A (n.833-8T>A) c.830-8T>A (n.830-8T>A) n.1055-8T>A c.806-8T>A (n.806-8T>A) c.891T>A (p.Phe297Leu) c.570T>A (p.Phe190Leu) c.878-8T>A (n.878-8T>A) c.881-8T>A (n.881-8T>A) c.560-8T>A (n.560-8T>A) c.843T>A (p.Phe281Leu) c.725-8T>A (n.725-8T>A) c.*217T>A (n.*217T>A) c.392-8T>A (n.392-8T>A) c.735T>A (p.Phe245Leu) c.888T>A (p.Phe296Leu) c.840T>A (p.Phe280Leu) c.723T>A (p.Phe241Leu) c.713-8T>A (n.713-8T>A) | |
3 | g.69951822T>G | CA353561524 | MITF | c.833-8T>G (n.833-8T>G) c.830-8T>G (n.830-8T>G) n.1055-8T>G c.806-8T>G (n.806-8T>G) c.891T>G (p.Phe297Leu) c.570T>G (p.Phe190Leu) c.878-8T>G (n.878-8T>G) c.881-8T>G (n.881-8T>G) c.560-8T>G (n.560-8T>G) c.843T>G (p.Phe281Leu) c.725-8T>G (n.725-8T>G) c.*217T>G (n.*217T>G) c.392-8T>G (n.392-8T>G) c.735T>G (p.Phe245Leu) c.888T>G (p.Phe296Leu) c.840T>G (p.Phe280Leu) c.723T>G (p.Phe241Leu) c.713-8T>G (n.713-8T>G) | |
3 | g.69951823C>A | CA353561525 | MITF | c.833-7C>A (n.833-7C>A) c.830-7C>A (n.830-7C>A) n.1055-7C>A c.806-7C>A (n.806-7C>A) c.892C>A (p.Pro298Thr) c.571C>A (p.Pro191Thr) c.878-7C>A (n.878-7C>A) c.881-7C>A (n.881-7C>A) c.560-7C>A (n.560-7C>A) c.844C>A (p.Pro282Thr) c.725-7C>A (n.725-7C>A) c.*218C>A (n.*218C>A) c.392-7C>A (n.392-7C>A) c.736C>A (p.Pro246Thr) c.889C>A (p.Pro297Thr) c.841C>A (p.Pro281Thr) c.724C>A (p.Pro242Thr) c.713-7C>A (n.713-7C>A) | dbSNP gnomAD v4 |
3 | g.69951823C>G | CA353561526 | MITF | c.833-7C>G (n.833-7C>G) c.830-7C>G (n.830-7C>G) n.1055-7C>G c.806-7C>G (n.806-7C>G) c.892C>G (p.Pro298Ala) c.571C>G (p.Pro191Ala) c.878-7C>G (n.878-7C>G) c.881-7C>G (n.881-7C>G) c.560-7C>G (n.560-7C>G) c.844C>G (p.Pro282Ala) c.725-7C>G (n.725-7C>G) c.*218C>G (n.*218C>G) c.392-7C>G (n.392-7C>G) c.736C>G (p.Pro246Ala) c.889C>G (p.Pro297Ala) c.841C>G (p.Pro281Ala) c.724C>G (p.Pro242Ala) c.713-7C>G (n.713-7C>G) | |
3 | g.69951823C>T | CA353561527 | MITF | c.833-7C>T (n.833-7C>T) c.830-7C>T (n.830-7C>T) n.1055-7C>T c.806-7C>T (n.806-7C>T) c.892C>T (p.Pro298Ser) c.571C>T (p.Pro191Ser) c.878-7C>T (n.878-7C>T) c.881-7C>T (n.881-7C>T) c.560-7C>T (n.560-7C>T) c.844C>T (p.Pro282Ser) c.725-7C>T (n.725-7C>T) c.*218C>T (n.*218C>T) c.392-7C>T (n.392-7C>T) c.736C>T (p.Pro246Ser) c.889C>T (p.Pro297Ser) c.841C>T (p.Pro281Ser) c.724C>T (p.Pro242Ser) c.713-7C>T (n.713-7C>T) | dbSNP |
3 | g.69951825dup | CA2547354005 | MITF | c.833-5dup (n.833-5dup) c.830-5dup (n.830-5dup) n.1055-5dup c.806-5dup (n.806-5dup) c.894dup (p.Thr299HisfsTer4) c.573dup (p.Thr192HisfsTer4) c.878-5dup (n.878-5dup) c.881-5dup (n.881-5dup) c.560-5dup (n.560-5dup) c.846dup (p.Thr283HisfsTer4) c.725-5dup (n.725-5dup) c.*220dup (n.*220dup) c.392-5dup (n.392-5dup) c.738dup (p.Thr247HisfsTer4) c.891dup (p.Thr298HisfsTer4) c.843dup (p.Thr282HisfsTer4) c.726dup (p.Thr243HisfsTer4) c.713-5dup (n.713-5dup) | |
3 | g.69951824C>A | CA353561528 | MITF | c.833-6C>A (n.833-6C>A) c.830-6C>A (n.830-6C>A) n.1055-6C>A c.806-6C>A (n.806-6C>A) c.893C>A (p.Pro298His) c.572C>A (p.Pro191His) c.878-6C>A (n.878-6C>A) c.881-6C>A (n.881-6C>A) c.560-6C>A (n.560-6C>A) c.845C>A (p.Pro282His) c.725-6C>A (n.725-6C>A) c.*219C>A (n.*219C>A) c.392-6C>A (n.392-6C>A) c.737C>A (p.Pro246His) c.890C>A (p.Pro297His) c.842C>A (p.Pro281His) c.725C>A (p.Pro242His) c.713-6C>A (n.713-6C>A) | |
3 | g.69951824C= | CA1373443510 | MITF | c.833-6C= (n.833-6C=) c.830-6C= (n.830-6C=) n.1055-6C= c.806-6C= (n.806-6C=) c.893C= (p.Pro298=) c.572C= (p.Pro191=) c.878-6C= (n.878-6C=) c.881-6C= (n.881-6C=) c.560-6C= (n.560-6C=) c.845C= (p.Pro282=) c.725-6C= (n.725-6C=) c.*219C= (n.*219C=) c.392-6C= (n.392-6C=) c.737C= (p.Pro246=) c.890C= (p.Pro297=) c.842C= (p.Pro281=) c.725C= (p.Pro242=) c.713-6C= (n.713-6C=) | |
3 | g.69951824C>G | CA353561530 | MITF | c.833-6C>G (n.833-6C>G) c.830-6C>G (n.830-6C>G) n.1055-6C>G c.806-6C>G (n.806-6C>G) c.893C>G (p.Pro298Arg) c.572C>G (p.Pro191Arg) c.878-6C>G (n.878-6C>G) c.881-6C>G (n.881-6C>G) c.560-6C>G (n.560-6C>G) c.845C>G (p.Pro282Arg) c.725-6C>G (n.725-6C>G) c.*219C>G (n.*219C>G) c.392-6C>G (n.392-6C>G) c.737C>G (p.Pro246Arg) c.890C>G (p.Pro297Arg) c.842C>G (p.Pro281Arg) c.725C>G (p.Pro242Arg) c.713-6C>G (n.713-6C>G) | |
3 | g.69951824C>T | CA353561529 | MITF | c.833-6C>T (n.833-6C>T) c.830-6C>T (n.830-6C>T) n.1055-6C>T c.806-6C>T (n.806-6C>T) c.893C>T (p.Pro298Leu) c.572C>T (p.Pro191Leu) c.878-6C>T (n.878-6C>T) c.881-6C>T (n.881-6C>T) c.560-6C>T (n.560-6C>T) c.845C>T (p.Pro282Leu) c.725-6C>T (n.725-6C>T) c.*219C>T (n.*219C>T) c.392-6C>T (n.392-6C>T) c.737C>T (p.Pro246Leu) c.890C>T (p.Pro297Leu) c.842C>T (p.Pro281Leu) c.725C>T (p.Pro242Leu) c.713-6C>T (n.713-6C>T) | dbSNP |
3 | g.69951825C>A | CA77002070 | MITF | c.833-5C>A (n.833-5C>A) c.830-5C>A (n.830-5C>A) n.1055-5C>A c.806-5C>A (n.806-5C>A) c.894C>A (p.Pro298=) c.573C>A (p.Pro191=) c.878-5C>A (n.878-5C>A) c.881-5C>A (n.881-5C>A) c.560-5C>A (n.560-5C>A) c.846C>A (p.Pro282=) c.725-5C>A (n.725-5C>A) c.*220C>A (n.*220C>A) c.392-5C>A (n.392-5C>A) c.738C>A (p.Pro246=) c.891C>A (p.Pro297=) c.843C>A (p.Pro281=) c.726C>A (p.Pro242=) c.713-5C>A (n.713-5C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69951825C= | CA1373443512 | MITF | c.833-5C= (n.833-5C=) c.830-5C= (n.830-5C=) n.1055-5C= c.806-5C= (n.806-5C=) c.894C= (p.Pro298=) c.573C= (p.Pro191=) c.878-5C= (n.878-5C=) c.881-5C= (n.881-5C=) c.560-5C= (n.560-5C=) c.846C= (p.Pro282=) c.725-5C= (n.725-5C=) c.*220C= (n.*220C=) c.392-5C= (n.392-5C=) c.738C= (p.Pro246=) c.891C= (p.Pro297=) c.843C= (p.Pro281=) c.726C= (p.Pro242=) c.713-5C= (n.713-5C=) | |
3 | g.69951825C>T | CA2666480718 | MITF | c.833-5C>T (n.833-5C>T) c.830-5C>T (n.830-5C>T) n.1055-5C>T c.806-5C>T (n.806-5C>T) c.894C>T (p.Pro298=) c.573C>T (p.Pro191=) c.878-5C>T (n.878-5C>T) c.881-5C>T (n.881-5C>T) c.560-5C>T (n.560-5C>T) c.846C>T (p.Pro282=) c.725-5C>T (n.725-5C>T) c.*220C>T (n.*220C>T) c.392-5C>T (n.392-5C>T) c.738C>T (p.Pro246=) c.891C>T (p.Pro297=) c.843C>T (p.Pro281=) c.726C>T (p.Pro242=) c.713-5C>T (n.713-5C>T) | gnomAD v4 |
3 | g.69951827_69951828del | CA2666480717 | MITF | c.833-3_833-2del (n.833-3_833-2del) c.830-3_830-2del (n.830-3_830-2del) n.1055-3_1055-2del c.806-3_806-2del (n.806-3_806-2del) c.896_897del (p.Thr299ArgfsTer3) c.575_576del (p.Thr192ArgfsTer3) c.878-3_878-2del (n.878-3_878-2del) c.881-3_881-2del (n.881-3_881-2del) c.560-3_560-2del (n.560-3_560-2del) c.848_849del (p.Thr283ArgfsTer3) c.725-3_725-2del (n.725-3_725-2del) c.*222_*223del (n.*222_*223del) c.392-3_392-2del (n.392-3_392-2del) c.740_741del (p.Thr247ArgfsTer3) c.893_894del (p.Thr298ArgfsTer3) c.845_846del (p.Thr282ArgfsTer3) c.728_729del (p.Thr243ArgfsTer3) c.713-3_713-2del (n.713-3_713-2del) | gnomAD v4 |
3 | g.69951826A= | CA1373443515 | MITF | c.833-4A= (n.833-4A=) c.830-4A= (n.830-4A=) n.1055-4A= c.806-4A= (n.806-4A=) c.895A= (p.Thr299=) c.574A= (p.Thr192=) c.878-4A= (n.878-4A=) c.881-4A= (n.881-4A=) c.560-4A= (n.560-4A=) c.847A= (p.Thr283=) c.725-4A= (n.725-4A=) c.*221A= (n.*221A=) c.392-4A= (n.392-4A=) c.739A= (p.Thr247=) c.892A= (p.Thr298=) c.844A= (p.Thr282=) c.727A= (p.Thr243=) c.713-4A= (n.713-4A=) | |
3 | g.69951826A>C | CA353561532 | MITF | c.833-4A>C (n.833-4A>C) c.830-4A>C (n.830-4A>C) n.1055-4A>C c.806-4A>C (n.806-4A>C) c.895A>C (p.Thr299Pro) c.574A>C (p.Thr192Pro) c.878-4A>C (n.878-4A>C) c.881-4A>C (n.881-4A>C) c.560-4A>C (n.560-4A>C) c.847A>C (p.Thr283Pro) c.725-4A>C (n.725-4A>C) c.*221A>C (n.*221A>C) c.392-4A>C (n.392-4A>C) c.739A>C (p.Thr247Pro) c.892A>C (p.Thr298Pro) c.844A>C (p.Thr282Pro) c.727A>C (p.Thr243Pro) c.713-4A>C (n.713-4A>C) | |
3 | g.69951826A>G | CA353561531 | MITF | c.833-4A>G (n.833-4A>G) c.830-4A>G (n.830-4A>G) n.1055-4A>G c.806-4A>G (n.806-4A>G) c.895A>G (p.Thr299Ala) c.574A>G (p.Thr192Ala) c.878-4A>G (n.878-4A>G) c.881-4A>G (n.881-4A>G) c.560-4A>G (n.560-4A>G) c.847A>G (p.Thr283Ala) c.725-4A>G (n.725-4A>G) c.*221A>G (n.*221A>G) c.392-4A>G (n.392-4A>G) c.739A>G (p.Thr247Ala) c.892A>G (p.Thr298Ala) c.844A>G (p.Thr282Ala) c.727A>G (p.Thr243Ala) c.713-4A>G (n.713-4A>G) | gnomAD v4 |
3 | g.69951826A>T | CA353561533 | MITF | c.833-4A>T (n.833-4A>T) c.830-4A>T (n.830-4A>T) n.1055-4A>T c.806-4A>T (n.806-4A>T) c.895A>T (p.Thr299Ser) c.574A>T (p.Thr192Ser) c.878-4A>T (n.878-4A>T) c.881-4A>T (n.881-4A>T) c.560-4A>T (n.560-4A>T) c.847A>T (p.Thr283Ser) c.725-4A>T (n.725-4A>T) c.*221A>T (n.*221A>T) c.392-4A>T (n.392-4A>T) c.739A>T (p.Thr247Ser) c.892A>T (p.Thr298Ser) c.844A>T (p.Thr282Ser) c.727A>T (p.Thr243Ser) c.713-4A>T (n.713-4A>T) | dbSNP |
3 | g.69951827del | CA2586972641 | MITF | c.833-3del (n.833-3del) c.830-3del (n.830-3del) n.1055-3del c.806-3del (n.806-3del) c.896del (p.Thr299LysfsTer20) c.575del (p.Thr192LysfsTer20) c.878-3del (n.878-3del) c.881-3del (n.881-3del) c.560-3del (n.560-3del) c.848del (p.Thr283LysfsTer20) c.725-3del (n.725-3del) c.*222del (n.*222del) c.392-3del (n.392-3del) c.740del (p.Thr247LysfsTer20) c.893del (p.Thr298LysfsTer20) c.845del (p.Thr282LysfsTer20) c.728del (p.Thr243LysfsTer20) c.713-3del (n.713-3del) | |
3 | g.69951827C>A | CA353561534 | MITF | c.833-3C>A (n.833-3C>A) c.830-3C>A (n.830-3C>A) n.1055-3C>A c.806-3C>A (n.806-3C>A) c.896C>A (p.Thr299Lys) c.575C>A (p.Thr192Lys) c.878-3C>A (n.878-3C>A) c.881-3C>A (n.881-3C>A) c.560-3C>A (n.560-3C>A) c.848C>A (p.Thr283Lys) c.725-3C>A (n.725-3C>A) c.*222C>A (n.*222C>A) c.392-3C>A (n.392-3C>A) c.740C>A (p.Thr247Lys) c.893C>A (p.Thr298Lys) c.845C>A (p.Thr282Lys) c.728C>A (p.Thr243Lys) c.713-3C>A (n.713-3C>A) | dbSNP |
3 | g.69951827C>G | CA353561536 | MITF | c.833-3C>G (n.833-3C>G) c.830-3C>G (n.830-3C>G) n.1055-3C>G c.806-3C>G (n.806-3C>G) c.896C>G (p.Thr299Arg) c.575C>G (p.Thr192Arg) c.878-3C>G (n.878-3C>G) c.881-3C>G (n.881-3C>G) c.560-3C>G (n.560-3C>G) c.848C>G (p.Thr283Arg) c.725-3C>G (n.725-3C>G) c.*222C>G (n.*222C>G) c.392-3C>G (n.392-3C>G) c.740C>G (p.Thr247Arg) c.893C>G (p.Thr298Arg) c.845C>G (p.Thr282Arg) c.728C>G (p.Thr243Arg) c.713-3C>G (n.713-3C>G) | |
3 | g.69951827C>T | CA353561535 | MITF | c.833-3C>T (n.833-3C>T) c.830-3C>T (n.830-3C>T) n.1055-3C>T c.806-3C>T (n.806-3C>T) c.896C>T (p.Thr299Ile) c.575C>T (p.Thr192Ile) c.878-3C>T (n.878-3C>T) c.881-3C>T (n.881-3C>T) c.560-3C>T (n.560-3C>T) c.848C>T (p.Thr283Ile) c.725-3C>T (n.725-3C>T) c.*222C>T (n.*222C>T) c.392-3C>T (n.392-3C>T) c.740C>T (p.Thr247Ile) c.893C>T (p.Thr298Ile) c.845C>T (p.Thr282Ile) c.728C>T (p.Thr243Ile) c.713-3C>T (n.713-3C>T) | dbSNP |
3 | g.69951828A>C | CA353561537 | MITF | c.833-2A>C (n.833-2A>C) c.830-2A>C (n.830-2A>C) n.1055-2A>C c.806-2A>C (n.806-2A>C) c.897A>C (p.Thr299=) c.576A>C (p.Thr192=) c.878-2A>C (n.878-2A>C) c.881-2A>C (n.881-2A>C) c.560-2A>C (n.560-2A>C) c.849A>C (p.Thr283=) c.725-2A>C (n.725-2A>C) c.*223A>C (n.*223A>C) c.392-2A>C (n.392-2A>C) c.741A>C (p.Thr247=) c.894A>C (p.Thr298=) c.846A>C (p.Thr282=) c.729A>C (p.Thr243=) c.713-2A>C (n.713-2A>C) | |
3 | g.69951828A>G | CA353561538 | MITF | c.833-2A>G (n.833-2A>G) c.830-2A>G (n.830-2A>G) n.1055-2A>G c.806-2A>G (n.806-2A>G) c.897A>G (p.Thr299=) c.576A>G (p.Thr192=) c.878-2A>G (n.878-2A>G) c.881-2A>G (n.881-2A>G) c.560-2A>G (n.560-2A>G) c.849A>G (p.Thr283=) c.725-2A>G (n.725-2A>G) c.*223A>G (n.*223A>G) c.392-2A>G (n.392-2A>G) c.741A>G (p.Thr247=) c.894A>G (p.Thr298=) c.846A>G (p.Thr282=) c.729A>G (p.Thr243=) c.713-2A>G (n.713-2A>G) | |
3 | g.69951828A>T | CA353561539 | MITF | c.833-2A>T (n.833-2A>T) c.830-2A>T (n.830-2A>T) n.1055-2A>T c.806-2A>T (n.806-2A>T) c.897A>T (p.Thr299=) c.576A>T (p.Thr192=) c.878-2A>T (n.878-2A>T) c.881-2A>T (n.881-2A>T) c.560-2A>T (n.560-2A>T) c.849A>T (p.Thr283=) c.725-2A>T (n.725-2A>T) c.*223A>T (n.*223A>T) c.392-2A>T (n.392-2A>T) c.741A>T (p.Thr247=) c.894A>T (p.Thr298=) c.846A>T (p.Thr282=) c.729A>T (p.Thr243=) c.713-2A>T (n.713-2A>T) | |
3 | g.69951830_69951831del | CA2580616496 | MITF | c.833_834del c.830_831del n.1055_1056del c.806_807del c.899_900del (p.Glu300ValfsTer2) c.578_579del (p.Glu193ValfsTer2) c.878_879del c.881_882del c.560_561del c.851_852del (p.Glu284ValfsTer2) c.725_726del c.*225_*226del (n.*225_*226del) c.392_393del c.743_744del (p.Glu248ValfsTer2) c.896_897del (p.Glu299ValfsTer2) c.848_849del (p.Glu283ValfsTer2) c.731_732del (p.Glu244ValfsTer2) c.713_714del | ClinVar dbSNP |
3 | g.69951829G>A | CA353561540 | MITF | c.833-1G>A (n.833-1G>A) c.830-1G>A (n.830-1G>A) n.1055-1G>A c.806-1G>A (n.806-1G>A) c.898G>A (p.Glu300Lys) c.577G>A (p.Glu193Lys) c.878-1G>A (n.878-1G>A) c.881-1G>A (n.881-1G>A) c.560-1G>A (n.560-1G>A) c.850G>A (p.Glu284Lys) c.725-1G>A (n.725-1G>A) c.*224G>A (n.*224G>A) c.392-1G>A (n.392-1G>A) c.742G>A (p.Glu248Lys) c.895G>A (p.Glu299Lys) c.847G>A (p.Glu283Lys) c.730G>A (p.Glu244Lys) c.713-1G>A (n.713-1G>A) | |
3 | g.69951829G>C | CA353561541 | MITF | c.833-1G>C (n.833-1G>C) c.830-1G>C (n.830-1G>C) n.1055-1G>C c.806-1G>C (n.806-1G>C) c.898G>C (p.Glu300Gln) c.577G>C (p.Glu193Gln) c.878-1G>C (n.878-1G>C) c.881-1G>C (n.881-1G>C) c.560-1G>C (n.560-1G>C) c.850G>C (p.Glu284Gln) c.725-1G>C (n.725-1G>C) c.*224G>C (n.*224G>C) c.392-1G>C (n.392-1G>C) c.742G>C (p.Glu248Gln) c.895G>C (p.Glu299Gln) c.847G>C (p.Glu283Gln) c.730G>C (p.Glu244Gln) c.713-1G>C (n.713-1G>C) | gnomAD v4 |
3 | g.69951829G>T | CA353561542 | MITF | c.833-1G>T (n.833-1G>T) c.830-1G>T (n.830-1G>T) n.1055-1G>T c.806-1G>T (n.806-1G>T) c.898G>T (p.Glu300Ter) c.577G>T (p.Glu193Ter) c.878-1G>T (n.878-1G>T) c.881-1G>T (n.881-1G>T) c.560-1G>T (n.560-1G>T) c.850G>T (p.Glu284Ter) c.725-1G>T (n.725-1G>T) c.*224G>T (n.*224G>T) c.392-1G>T (n.392-1G>T) c.742G>T (p.Glu248Ter) c.895G>T (p.Glu299Ter) c.847G>T (p.Glu283Ter) c.730G>T (p.Glu244Ter) c.713-1G>T (n.713-1G>T) | |
3 | g.69951830A>C | CA353561543 | MITF | c.833A>C (p.Glu278Ala) c.830A>C (p.Glu277Ala) n.1055A>C c.806A>C (p.Glu269Ala) c.899A>C (p.Glu300Ala) c.578A>C (p.Glu193Ala) c.878A>C (p.Glu293Ala) c.881A>C (p.Glu294Ala) c.560A>C (p.Glu187Ala) c.851A>C (p.Glu284Ala) c.725A>C (p.Glu242Ala) c.*225A>C (n.*225A>C) c.392A>C (p.Glu131Ala) c.743A>C (p.Glu248Ala) c.896A>C (p.Glu299Ala) c.848A>C (p.Glu283Ala) c.731A>C (p.Glu244Ala) c.713A>C (p.Glu238Ala) | |
3 | g.69951830A>G | CA353561544 | MITF | c.833A>G (p.Glu278Gly) c.830A>G (p.Glu277Gly) n.1055A>G c.806A>G (p.Glu269Gly) c.899A>G (p.Glu300Gly) c.578A>G (p.Glu193Gly) c.878A>G (p.Glu293Gly) c.881A>G (p.Glu294Gly) c.560A>G (p.Glu187Gly) c.851A>G (p.Glu284Gly) c.725A>G (p.Glu242Gly) c.*225A>G (n.*225A>G) c.392A>G (p.Glu131Gly) c.743A>G (p.Glu248Gly) c.896A>G (p.Glu299Gly) c.848A>G (p.Glu283Gly) c.731A>G (p.Glu244Gly) c.713A>G (p.Glu238Gly) | |
3 | g.69951830A>T | CA353561545 | MITF | c.833A>T (p.Glu278Val) c.830A>T (p.Glu277Val) n.1055A>T c.806A>T (p.Glu269Val) c.899A>T (p.Glu300Val) c.578A>T (p.Glu193Val) c.878A>T (p.Glu293Val) c.881A>T (p.Glu294Val) c.560A>T (p.Glu187Val) c.851A>T (p.Glu284Val) c.725A>T (p.Glu242Val) c.*225A>T (n.*225A>T) c.392A>T (p.Glu131Val) c.743A>T (p.Glu248Val) c.896A>T (p.Glu299Val) c.848A>T (p.Glu283Val) c.731A>T (p.Glu244Val) c.713A>T (p.Glu238Val) | |
3 | g.69951831G>A | CA77002071 | MITF | c.834G>A (p.Glu278=) c.831G>A (p.Glu277=) n.1056G>A c.807G>A (p.Glu269=) c.900G>A (p.Glu300=) c.579G>A (p.Glu193=) c.879G>A (p.Glu293=) c.882G>A (p.Glu294=) c.561G>A (p.Glu187=) c.852G>A (p.Glu284=) c.726G>A (p.Glu242=) c.*226G>A (n.*226G>A) c.393G>A (p.Glu131=) c.744G>A (p.Glu248=) c.897G>A (p.Glu299=) c.849G>A (p.Glu283=) c.732G>A (p.Glu244=) c.714G>A (p.Glu238=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.69951831G>C | CA353561546 | MITF | c.834G>C (p.Glu278Asp) c.831G>C (p.Glu277Asp) n.1056G>C c.807G>C (p.Glu269Asp) c.900G>C (p.Glu300Asp) c.579G>C (p.Glu193Asp) c.879G>C (p.Glu293Asp) c.882G>C (p.Glu294Asp) c.561G>C (p.Glu187Asp) c.852G>C (p.Glu284Asp) c.726G>C (p.Glu242Asp) c.*226G>C (n.*226G>C) c.393G>C (p.Glu131Asp) c.744G>C (p.Glu248Asp) c.897G>C (p.Glu299Asp) c.849G>C (p.Glu283Asp) c.732G>C (p.Glu244Asp) c.714G>C (p.Glu238Asp) | |
3 | g.69951831G= | CA1373443517 | MITF | c.834G= (p.Glu278=) c.831G= (p.Glu277=) n.1056G= c.807G= (p.Glu269=) c.900G= (p.Glu300=) c.579G= (p.Glu193=) c.879G= (p.Glu293=) c.882G= (p.Glu294=) c.561G= (p.Glu187=) c.852G= (p.Glu284=) c.726G= (p.Glu242=) c.*226G= (n.*226G=) c.393G= (p.Glu131=) c.744G= (p.Glu248=) c.897G= (p.Glu299=) c.849G= (p.Glu283=) c.732G= (p.Glu244=) c.714G= (p.Glu238=) | |
3 | g.69951831G>T | CA353561547 | MITF | c.834G>T (p.Glu278Asp) c.831G>T (p.Glu277Asp) n.1056G>T c.807G>T (p.Glu269Asp) c.900G>T (p.Glu300Asp) c.579G>T (p.Glu193Asp) c.879G>T (p.Glu293Asp) c.882G>T (p.Glu294Asp) c.561G>T (p.Glu187Asp) c.852G>T (p.Glu284Asp) c.726G>T (p.Glu242Asp) c.*226G>T (n.*226G>T) c.393G>T (p.Glu131Asp) c.744G>T (p.Glu248Asp) c.897G>T (p.Glu299Asp) c.849G>T (p.Glu283Asp) c.732G>T (p.Glu244Asp) c.714G>T (p.Glu238Asp) | |
3 | g.69951832T>A | CA353561550 | MITF | c.835T>A (p.Ser279Thr) c.832T>A (p.Ser278Thr) n.1057T>A c.808T>A (p.Ser270Thr) c.901T>A (p.Ser301Thr) c.580T>A (p.Ser194Thr) c.880T>A (p.Ser294Thr) c.883T>A (p.Ser295Thr) c.562T>A (p.Ser188Thr) c.853T>A (p.Ser285Thr) c.727T>A (p.Ser243Thr) c.*227T>A (n.*227T>A) c.394T>A (p.Ser132Thr) c.745T>A (p.Ser249Thr) c.898T>A (p.Ser300Thr) c.850T>A (p.Ser284Thr) c.733T>A (p.Ser245Thr) c.715T>A (p.Ser239Thr) | dbSNP |
3 | g.69951832T>C | CA353561549 | MITF | c.835T>C (p.Ser279Pro) c.832T>C (p.Ser278Pro) n.1057T>C c.808T>C (p.Ser270Pro) c.901T>C (p.Ser301Pro) c.580T>C (p.Ser194Pro) c.880T>C (p.Ser294Pro) c.883T>C (p.Ser295Pro) c.562T>C (p.Ser188Pro) c.853T>C (p.Ser285Pro) c.727T>C (p.Ser243Pro) c.*227T>C (n.*227T>C) c.394T>C (p.Ser132Pro) c.745T>C (p.Ser249Pro) c.898T>C (p.Ser300Pro) c.850T>C (p.Ser284Pro) c.733T>C (p.Ser245Pro) c.715T>C (p.Ser239Pro) | |
3 | g.69951832T>G | CA353561548 | MITF | c.835T>G (p.Ser279Ala) c.832T>G (p.Ser278Ala) n.1057T>G c.808T>G (p.Ser270Ala) c.901T>G (p.Ser301Ala) c.580T>G (p.Ser194Ala) c.880T>G (p.Ser294Ala) c.883T>G (p.Ser295Ala) c.562T>G (p.Ser188Ala) c.853T>G (p.Ser285Ala) c.727T>G (p.Ser243Ala) c.*227T>G (n.*227T>G) c.394T>G (p.Ser132Ala) c.745T>G (p.Ser249Ala) c.898T>G (p.Ser300Ala) c.850T>G (p.Ser284Ala) c.733T>G (p.Ser245Ala) c.715T>G (p.Ser239Ala) | |
3 | g.69951833C>A | CA353561552 | MITF | c.836C>A (p.Ser279Tyr) c.833C>A (p.Ser278Tyr) n.1058C>A c.809C>A (p.Ser270Tyr) c.902C>A (p.Ser301Tyr) c.581C>A (p.Ser194Tyr) c.881C>A (p.Ser294Tyr) c.884C>A (p.Ser295Tyr) c.563C>A (p.Ser188Tyr) c.854C>A (p.Ser285Tyr) c.728C>A (p.Ser243Tyr) c.*228C>A (n.*228C>A) c.395C>A (p.Ser132Tyr) c.746C>A (p.Ser249Tyr) c.899C>A (p.Ser300Tyr) c.851C>A (p.Ser284Tyr) c.734C>A (p.Ser245Tyr) c.716C>A (p.Ser239Tyr) | |
3 | g.69951833C>G | CA353561553 | MITF | c.836C>G (p.Ser279Cys) c.833C>G (p.Ser278Cys) n.1058C>G c.809C>G (p.Ser270Cys) c.902C>G (p.Ser301Cys) c.581C>G (p.Ser194Cys) c.881C>G (p.Ser294Cys) c.884C>G (p.Ser295Cys) c.563C>G (p.Ser188Cys) c.854C>G (p.Ser285Cys) c.728C>G (p.Ser243Cys) c.*228C>G (n.*228C>G) c.395C>G (p.Ser132Cys) c.746C>G (p.Ser249Cys) c.899C>G (p.Ser300Cys) c.851C>G (p.Ser284Cys) c.734C>G (p.Ser245Cys) c.716C>G (p.Ser239Cys) | |
3 | g.69951833C>T | CA353561554 | MITF | c.836C>T (p.Ser279Phe) c.833C>T (p.Ser278Phe) n.1058C>T c.809C>T (p.Ser270Phe) c.902C>T (p.Ser301Phe) c.581C>T (p.Ser194Phe) c.881C>T (p.Ser294Phe) c.884C>T (p.Ser295Phe) c.563C>T (p.Ser188Phe) c.854C>T (p.Ser285Phe) c.728C>T (p.Ser243Phe) c.*228C>T (n.*228C>T) c.395C>T (p.Ser132Phe) c.746C>T (p.Ser249Phe) c.899C>T (p.Ser300Phe) c.851C>T (p.Ser284Phe) c.734C>T (p.Ser245Phe) c.716C>T (p.Ser239Phe) | |
3 | g.69951834T>A | CA434306266 | MITF | c.837T>A (p.Ser279=) c.834T>A (p.Ser278=) n.1059T>A c.810T>A (p.Ser270=) c.903T>A (p.Ser301=) c.582T>A (p.Ser194=) c.882T>A (p.Ser294=) c.885T>A (p.Ser295=) c.564T>A (p.Ser188=) c.855T>A (p.Ser285=) c.729T>A (p.Ser243=) c.*229T>A (n.*229T>A) c.396T>A (p.Ser132=) c.747T>A (p.Ser249=) c.900T>A (p.Ser300=) c.852T>A (p.Ser284=) c.735T>A (p.Ser245=) c.717T>A (p.Ser239=) | |
3 | g.69951834T>C | CA434306267 | MITF | c.837T>C (p.Ser279=) c.834T>C (p.Ser278=) n.1059T>C c.810T>C (p.Ser270=) c.903T>C (p.Ser301=) c.582T>C (p.Ser194=) c.882T>C (p.Ser294=) c.885T>C (p.Ser295=) c.564T>C (p.Ser188=) c.855T>C (p.Ser285=) c.729T>C (p.Ser243=) c.*229T>C (n.*229T>C) c.396T>C (p.Ser132=) c.747T>C (p.Ser249=) c.900T>C (p.Ser300=) c.852T>C (p.Ser284=) c.735T>C (p.Ser245=) c.717T>C (p.Ser239=) | |
3 | g.69951834T>G | CA434306268 | MITF | c.837T>G (p.Ser279=) c.834T>G (p.Ser278=) n.1059T>G c.810T>G (p.Ser270=) c.903T>G (p.Ser301=) c.582T>G (p.Ser194=) c.882T>G (p.Ser294=) c.885T>G (p.Ser295=) c.564T>G (p.Ser188=) c.855T>G (p.Ser285=) c.729T>G (p.Ser243=) c.*229T>G (n.*229T>G) c.396T>G (p.Ser132=) c.747T>G (p.Ser249=) c.900T>G (p.Ser300=) c.852T>G (p.Ser284=) c.735T>G (p.Ser245=) c.717T>G (p.Ser239=) | |
3 | g.69951835G>A | CA353561555 | MITF | c.838G>A (p.Glu280Lys) c.835G>A (p.Glu279Lys) n.1060G>A c.811G>A (p.Glu271Lys) c.904G>A (p.Glu302Lys) c.583G>A (p.Glu195Lys) c.883G>A (p.Glu295Lys) c.886G>A (p.Glu296Lys) c.565G>A (p.Glu189Lys) c.856G>A (p.Glu286Lys) c.730G>A (p.Glu244Lys) c.*230G>A (n.*230G>A) c.397G>A (p.Glu133Lys) c.748G>A (p.Glu250Lys) c.901G>A (p.Glu301Lys) c.853G>A (p.Glu285Lys) c.736G>A (p.Glu246Lys) c.718G>A (p.Glu240Lys) | |
3 | g.69951835G>C | CA353561556 | MITF | c.838G>C (p.Glu280Gln) c.835G>C (p.Glu279Gln) n.1060G>C c.811G>C (p.Glu271Gln) c.904G>C (p.Glu302Gln) c.583G>C (p.Glu195Gln) c.883G>C (p.Glu295Gln) c.886G>C (p.Glu296Gln) c.565G>C (p.Glu189Gln) c.856G>C (p.Glu286Gln) c.730G>C (p.Glu244Gln) c.*230G>C (n.*230G>C) c.397G>C (p.Glu133Gln) c.748G>C (p.Glu250Gln) c.901G>C (p.Glu301Gln) c.853G>C (p.Glu285Gln) c.736G>C (p.Glu246Gln) c.718G>C (p.Glu240Gln) | |
3 | g.69951835G>T | CA353561557 | MITF | c.838G>T (p.Glu280Ter) c.835G>T (p.Glu279Ter) n.1060G>T c.811G>T (p.Glu271Ter) c.904G>T (p.Glu302Ter) c.583G>T (p.Glu195Ter) c.883G>T (p.Glu295Ter) c.886G>T (p.Glu296Ter) c.565G>T (p.Glu189Ter) c.856G>T (p.Glu286Ter) c.730G>T (p.Glu244Ter) c.*230G>T (n.*230G>T) c.397G>T (p.Glu133Ter) c.748G>T (p.Glu250Ter) c.901G>T (p.Glu301Ter) c.853G>T (p.Glu285Ter) c.736G>T (p.Glu246Ter) c.718G>T (p.Glu240Ter) | |
3 | g.69951836A>C | CA353561558 | MITF | c.839A>C (p.Glu280Ala) c.836A>C (p.Glu279Ala) n.1061A>C c.812A>C (p.Glu271Ala) c.905A>C (p.Glu302Ala) c.584A>C (p.Glu195Ala) c.884A>C (p.Glu295Ala) c.887A>C (p.Glu296Ala) c.566A>C (p.Glu189Ala) c.857A>C (p.Glu286Ala) c.731A>C (p.Glu244Ala) c.*231A>C (n.*231A>C) c.398A>C (p.Glu133Ala) c.749A>C (p.Glu250Ala) c.902A>C (p.Glu301Ala) c.854A>C (p.Glu285Ala) c.737A>C (p.Glu246Ala) c.719A>C (p.Glu240Ala) | |
3 | g.69951836A>G | CA353561559 | MITF | c.839A>G (p.Glu280Gly) c.836A>G (p.Glu279Gly) n.1061A>G c.812A>G (p.Glu271Gly) c.905A>G (p.Glu302Gly) c.584A>G (p.Glu195Gly) c.884A>G (p.Glu295Gly) c.887A>G (p.Glu296Gly) c.566A>G (p.Glu189Gly) c.857A>G (p.Glu286Gly) c.731A>G (p.Glu244Gly) c.*231A>G (n.*231A>G) c.398A>G (p.Glu133Gly) c.749A>G (p.Glu250Gly) c.902A>G (p.Glu301Gly) c.854A>G (p.Glu285Gly) c.737A>G (p.Glu246Gly) c.719A>G (p.Glu240Gly) | |
3 | g.69951836A>T | CA353561560 | MITF | c.839A>T (p.Glu280Val) c.836A>T (p.Glu279Val) n.1061A>T c.812A>T (p.Glu271Val) c.905A>T (p.Glu302Val) c.584A>T (p.Glu195Val) c.884A>T (p.Glu295Val) c.887A>T (p.Glu296Val) c.566A>T (p.Glu189Val) c.857A>T (p.Glu286Val) c.731A>T (p.Glu244Val) c.*231A>T (n.*231A>T) c.398A>T (p.Glu133Val) c.749A>T (p.Glu250Val) c.902A>T (p.Glu301Val) c.854A>T (p.Glu285Val) c.737A>T (p.Glu246Val) c.719A>T (p.Glu240Val) | |
3 | g.69951837A>C | CA353561561 | MITF | c.840A>C (p.Glu280Asp) c.837A>C (p.Glu279Asp) n.1062A>C c.813A>C (p.Glu271Asp) c.906A>C (p.Glu302Asp) c.585A>C (p.Glu195Asp) c.885A>C (p.Glu295Asp) c.888A>C (p.Glu296Asp) c.567A>C (p.Glu189Asp) c.858A>C (p.Glu286Asp) c.732A>C (p.Glu244Asp) c.*232A>C (n.*232A>C) c.399A>C (p.Glu133Asp) c.750A>C (p.Glu250Asp) c.903A>C (p.Glu301Asp) c.855A>C (p.Glu285Asp) c.738A>C (p.Glu246Asp) c.720A>C (p.Glu240Asp) | |
3 | g.69951837A>G | CA434306269 | MITF | c.840A>G (p.Glu280=) c.837A>G (p.Glu279=) n.1062A>G c.813A>G (p.Glu271=) c.906A>G (p.Glu302=) c.585A>G (p.Glu195=) c.885A>G (p.Glu295=) c.888A>G (p.Glu296=) c.567A>G (p.Glu189=) c.858A>G (p.Glu286=) c.732A>G (p.Glu244=) c.*232A>G (n.*232A>G) c.399A>G (p.Glu133=) c.750A>G (p.Glu250=) c.903A>G (p.Glu301=) c.855A>G (p.Glu285=) c.738A>G (p.Glu246=) c.720A>G (p.Glu240=) | |
3 | g.69951837A>T | CA353561562 | MITF | c.840A>T (p.Glu280Asp) c.837A>T (p.Glu279Asp) n.1062A>T c.813A>T (p.Glu271Asp) c.906A>T (p.Glu302Asp) c.585A>T (p.Glu195Asp) c.885A>T (p.Glu295Asp) c.888A>T (p.Glu296Asp) c.567A>T (p.Glu189Asp) c.858A>T (p.Glu286Asp) c.732A>T (p.Glu244Asp) c.*232A>T (n.*232A>T) c.399A>T (p.Glu133Asp) c.750A>T (p.Glu250Asp) c.903A>T (p.Glu301Asp) c.855A>T (p.Glu285Asp) c.738A>T (p.Glu246Asp) c.720A>T (p.Glu240Asp) | |
3 | g.69951838G>A | CA353561565 | MITF | c.841G>A (p.Ala281Thr) c.838G>A (p.Ala280Thr) n.1063G>A c.814G>A (p.Ala272Thr) c.907G>A (p.Ala303Thr) c.586G>A (p.Ala196Thr) c.886G>A (p.Ala296Thr) c.889G>A (p.Ala297Thr) c.568G>A (p.Ala190Thr) c.859G>A (p.Ala287Thr) c.733G>A (p.Ala245Thr) c.*233G>A (n.*233G>A) c.400G>A (p.Ala134Thr) c.751G>A (p.Ala251Thr) c.904G>A (p.Ala302Thr) c.856G>A (p.Ala286Thr) c.739G>A (p.Ala247Thr) c.721G>A (p.Ala241Thr) | |
3 | g.69951838G>C | CA353561564 | MITF | c.841G>C (p.Ala281Pro) c.838G>C (p.Ala280Pro) n.1063G>C c.814G>C (p.Ala272Pro) c.907G>C (p.Ala303Pro) c.586G>C (p.Ala196Pro) c.886G>C (p.Ala296Pro) c.889G>C (p.Ala297Pro) c.568G>C (p.Ala190Pro) c.859G>C (p.Ala287Pro) c.733G>C (p.Ala245Pro) c.*233G>C (n.*233G>C) c.400G>C (p.Ala134Pro) c.751G>C (p.Ala251Pro) c.904G>C (p.Ala302Pro) c.856G>C (p.Ala286Pro) c.739G>C (p.Ala247Pro) c.721G>C (p.Ala241Pro) | |
3 | g.69951838G>T | CA353561563 | MITF | c.841G>T (p.Ala281Ser) c.838G>T (p.Ala280Ser) n.1063G>T c.814G>T (p.Ala272Ser) c.907G>T (p.Ala303Ser) c.586G>T (p.Ala196Ser) c.886G>T (p.Ala296Ser) c.889G>T (p.Ala297Ser) c.568G>T (p.Ala190Ser) c.859G>T (p.Ala287Ser) c.733G>T (p.Ala245Ser) c.*233G>T (n.*233G>T) c.400G>T (p.Ala134Ser) c.751G>T (p.Ala251Ser) c.904G>T (p.Ala302Ser) c.856G>T (p.Ala286Ser) c.739G>T (p.Ala247Ser) c.721G>T (p.Ala241Ser) | |
3 | g.69951839C>A | CA353561566 | MITF | c.842C>A (p.Ala281Glu) c.839C>A (p.Ala280Glu) n.1064C>A c.815C>A (p.Ala272Glu) c.908C>A (p.Ala303Glu) c.587C>A (p.Ala196Glu) c.887C>A (p.Ala296Glu) c.890C>A (p.Ala297Glu) c.569C>A (p.Ala190Glu) c.860C>A (p.Ala287Glu) c.734C>A (p.Ala245Glu) c.*234C>A (n.*234C>A) c.401C>A (p.Ala134Glu) c.752C>A (p.Ala251Glu) c.905C>A (p.Ala302Glu) c.857C>A (p.Ala286Glu) c.740C>A (p.Ala247Glu) c.722C>A (p.Ala241Glu) | |
3 | g.69951839C>G | CA353561567 | MITF | c.842C>G (p.Ala281Gly) c.839C>G (p.Ala280Gly) n.1064C>G c.815C>G (p.Ala272Gly) c.908C>G (p.Ala303Gly) c.587C>G (p.Ala196Gly) c.887C>G (p.Ala296Gly) c.890C>G (p.Ala297Gly) c.569C>G (p.Ala190Gly) c.860C>G (p.Ala287Gly) c.734C>G (p.Ala245Gly) c.*234C>G (n.*234C>G) c.401C>G (p.Ala134Gly) c.752C>G (p.Ala251Gly) c.905C>G (p.Ala302Gly) c.857C>G (p.Ala286Gly) c.740C>G (p.Ala247Gly) c.722C>G (p.Ala241Gly) | |
3 | g.69951839C>T | CA353561568 | MITF | c.842C>T (p.Ala281Val) c.839C>T (p.Ala280Val) n.1064C>T c.815C>T (p.Ala272Val) c.908C>T (p.Ala303Val) c.587C>T (p.Ala196Val) c.887C>T (p.Ala296Val) c.890C>T (p.Ala297Val) c.569C>T (p.Ala190Val) c.860C>T (p.Ala287Val) c.734C>T (p.Ala245Val) c.*234C>T (n.*234C>T) c.401C>T (p.Ala134Val) c.752C>T (p.Ala251Val) c.905C>T (p.Ala302Val) c.857C>T (p.Ala286Val) c.740C>T (p.Ala247Val) c.722C>T (p.Ala241Val) | |
3 | g.69951840A= | CA1373443521 | MITF | c.843A= (p.Ala281=) c.840A= (p.Ala280=) n.1065A= c.816A= (p.Ala272=) c.909A= (p.Ala303=) c.588A= (p.Ala196=) c.888A= (p.Ala296=) c.891A= (p.Ala297=) c.570A= (p.Ala190=) c.861A= (p.Ala287=) c.735A= (p.Ala245=) c.*235A= (n.*235A=) c.402A= (p.Ala134=) c.753A= (p.Ala251=) c.906A= (p.Ala302=) c.858A= (p.Ala286=) c.741A= (p.Ala247=) c.723A= (p.Ala241=) | |
3 | g.69951840A>C | CA434306270 | MITF | c.843A>C (p.Ala281=) c.840A>C (p.Ala280=) n.1065A>C c.816A>C (p.Ala272=) c.909A>C (p.Ala303=) c.588A>C (p.Ala196=) c.888A>C (p.Ala296=) c.891A>C (p.Ala297=) c.570A>C (p.Ala190=) c.861A>C (p.Ala287=) c.735A>C (p.Ala245=) c.*235A>C (n.*235A>C) c.402A>C (p.Ala134=) c.753A>C (p.Ala251=) c.906A>C (p.Ala302=) c.858A>C (p.Ala286=) c.741A>C (p.Ala247=) c.723A>C (p.Ala241=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69951840A>G | CA434306271 | MITF | c.843A>G (p.Ala281=) c.840A>G (p.Ala280=) n.1065A>G c.816A>G (p.Ala272=) c.909A>G (p.Ala303=) c.588A>G (p.Ala196=) c.888A>G (p.Ala296=) c.891A>G (p.Ala297=) c.570A>G (p.Ala190=) c.861A>G (p.Ala287=) c.735A>G (p.Ala245=) c.*235A>G (n.*235A>G) c.402A>G (p.Ala134=) c.753A>G (p.Ala251=) c.906A>G (p.Ala302=) c.858A>G (p.Ala286=) c.741A>G (p.Ala247=) c.723A>G (p.Ala241=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69951840A>T | CA434306272 | MITF | c.843A>T (p.Ala281=) c.840A>T (p.Ala280=) n.1065A>T c.816A>T (p.Ala272=) c.909A>T (p.Ala303=) c.588A>T (p.Ala196=) c.888A>T (p.Ala296=) c.891A>T (p.Ala297=) c.570A>T (p.Ala190=) c.861A>T (p.Ala287=) c.735A>T (p.Ala245=) c.*235A>T (n.*235A>T) c.402A>T (p.Ala134=) c.753A>T (p.Ala251=) c.906A>T (p.Ala302=) c.858A>T (p.Ala286=) c.741A>T (p.Ala247=) c.723A>T (p.Ala241=) | |
3 | g.69951841A>C | CA434306273 | MITF | c.844A>C (p.Arg282=) c.841A>C (p.Arg281=) n.1066A>C c.817A>C (p.Arg273=) c.910A>C (p.Arg304=) c.589A>C (p.Arg197=) c.889A>C (p.Arg297=) c.892A>C (p.Arg298=) c.571A>C (p.Arg191=) c.862A>C (p.Arg288=) c.736A>C (p.Arg246=) c.*236A>C (n.*236A>C) c.403A>C (p.Arg135=) c.754A>C (p.Arg252=) c.907A>C (p.Arg303=) c.859A>C (p.Arg287=) c.742A>C (p.Arg248=) c.724A>C (p.Arg242=) | |
3 | g.69951841A>G | CA353561569 | MITF | c.844A>G (p.Arg282Gly) c.841A>G (p.Arg281Gly) n.1066A>G c.817A>G (p.Arg273Gly) c.910A>G (p.Arg304Gly) c.589A>G (p.Arg197Gly) c.889A>G (p.Arg297Gly) c.892A>G (p.Arg298Gly) c.571A>G (p.Arg191Gly) c.862A>G (p.Arg288Gly) c.736A>G (p.Arg246Gly) c.*236A>G (n.*236A>G) c.403A>G (p.Arg135Gly) c.754A>G (p.Arg252Gly) c.907A>G (p.Arg303Gly) c.859A>G (p.Arg287Gly) c.742A>G (p.Arg248Gly) c.724A>G (p.Arg242Gly) | |
3 | g.69951841A>T | CA353561570 | MITF | c.844A>T (p.Arg282Ter) c.841A>T (p.Arg281Ter) n.1066A>T c.817A>T (p.Arg273Ter) c.910A>T (p.Arg304Ter) c.589A>T (p.Arg197Ter) c.889A>T (p.Arg297Ter) c.892A>T (p.Arg298Ter) c.571A>T (p.Arg191Ter) c.862A>T (p.Arg288Ter) c.736A>T (p.Arg246Ter) c.*236A>T (n.*236A>T) c.403A>T (p.Arg135Ter) c.754A>T (p.Arg252Ter) c.907A>T (p.Arg303Ter) c.859A>T (p.Arg287Ter) c.742A>T (p.Arg248Ter) c.724A>T (p.Arg242Ter) | |
3 | g.69951842G>A | CA353561571 | MITF | c.845G>A (p.Arg282Lys) c.842G>A (p.Arg281Lys) n.1067G>A c.818G>A (p.Arg273Lys) c.911G>A (p.Arg304Lys) c.590G>A (p.Arg197Lys) c.890G>A (p.Arg297Lys) c.893G>A (p.Arg298Lys) c.572G>A (p.Arg191Lys) c.863G>A (p.Arg288Lys) c.737G>A (p.Arg246Lys) c.*237G>A (n.*237G>A) c.404G>A (p.Arg135Lys) c.755G>A (p.Arg252Lys) c.908G>A (p.Arg303Lys) c.860G>A (p.Arg287Lys) c.743G>A (p.Arg248Lys) c.725G>A (p.Arg242Lys) | |
3 | g.69951842G>C | CA353561572 | MITF | c.845G>C (p.Arg282Thr) c.842G>C (p.Arg281Thr) n.1067G>C c.818G>C (p.Arg273Thr) c.911G>C (p.Arg304Thr) c.590G>C (p.Arg197Thr) c.890G>C (p.Arg297Thr) c.893G>C (p.Arg298Thr) c.572G>C (p.Arg191Thr) c.863G>C (p.Arg288Thr) c.737G>C (p.Arg246Thr) c.*237G>C (n.*237G>C) c.404G>C (p.Arg135Thr) c.755G>C (p.Arg252Thr) c.908G>C (p.Arg303Thr) c.860G>C (p.Arg287Thr) c.743G>C (p.Arg248Thr) c.725G>C (p.Arg242Thr) | gnomAD v4 |
3 | g.69951842G>T | CA353561573 | MITF | c.845G>T (p.Arg282Ile) c.842G>T (p.Arg281Ile) n.1067G>T c.818G>T (p.Arg273Ile) c.911G>T (p.Arg304Ile) c.590G>T (p.Arg197Ile) c.890G>T (p.Arg297Ile) c.893G>T (p.Arg298Ile) c.572G>T (p.Arg191Ile) c.863G>T (p.Arg288Ile) c.737G>T (p.Arg246Ile) c.*237G>T (n.*237G>T) c.404G>T (p.Arg135Ile) c.755G>T (p.Arg252Ile) c.908G>T (p.Arg303Ile) c.860G>T (p.Arg287Ile) c.743G>T (p.Arg248Ile) c.725G>T (p.Arg242Ile) | |
3 | g.69951843A>C | CA353561574 | MITF | c.846A>C (p.Arg282Ser) c.843A>C (p.Arg281Ser) n.1068A>C c.819A>C (p.Arg273Ser) c.912A>C (p.Arg304Ser) c.591A>C (p.Arg197Ser) c.891A>C (p.Arg297Ser) c.894A>C (p.Arg298Ser) c.573A>C (p.Arg191Ser) c.864A>C (p.Arg288Ser) c.738A>C (p.Arg246Ser) c.*238A>C (n.*238A>C) c.405A>C (p.Arg135Ser) c.756A>C (p.Arg252Ser) c.909A>C (p.Arg303Ser) c.861A>C (p.Arg287Ser) c.744A>C (p.Arg248Ser) c.726A>C (p.Arg242Ser) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
3 | g.69951843A>G | CA434306274 | MITF | c.846A>G (p.Arg282=) c.843A>G (p.Arg281=) n.1068A>G c.819A>G (p.Arg273=) c.912A>G (p.Arg304=) c.591A>G (p.Arg197=) c.891A>G (p.Arg297=) c.894A>G (p.Arg298=) c.573A>G (p.Arg191=) c.864A>G (p.Arg288=) c.738A>G (p.Arg246=) c.*238A>G (n.*238A>G) c.405A>G (p.Arg135=) c.756A>G (p.Arg252=) c.909A>G (p.Arg303=) c.861A>G (p.Arg287=) c.744A>G (p.Arg248=) c.726A>G (p.Arg242=) | |
3 | g.69951843A>T | CA353561575 | MITF | c.846A>T (p.Arg282Ser) c.843A>T (p.Arg281Ser) n.1068A>T c.819A>T (p.Arg273Ser) c.912A>T (p.Arg304Ser) c.591A>T (p.Arg197Ser) c.891A>T (p.Arg297Ser) c.894A>T (p.Arg298Ser) c.573A>T (p.Arg191Ser) c.864A>T (p.Arg288Ser) c.738A>T (p.Arg246Ser) c.*238A>T (n.*238A>T) c.405A>T (p.Arg135Ser) c.756A>T (p.Arg252Ser) c.909A>T (p.Arg303Ser) c.861A>T (p.Arg287Ser) c.744A>T (p.Arg248Ser) c.726A>T (p.Arg242Ser) | |
3 | g.69951844G>A | CA353561576 | MITF | c.847G>A (p.Ala283Thr) c.844G>A (p.Ala282Thr) n.1069G>A c.820G>A (p.Ala274Thr) c.913G>A (p.Ala305Thr) c.592G>A (p.Ala198Thr) c.892G>A (p.Ala298Thr) c.895G>A (p.Ala299Thr) c.574G>A (p.Ala192Thr) c.865G>A (p.Ala289Thr) c.739G>A (p.Ala247Thr) c.*239G>A (n.*239G>A) c.406G>A (p.Ala136Thr) c.757G>A (p.Ala253Thr) c.910G>A (p.Ala304Thr) c.862G>A (p.Ala288Thr) c.745G>A (p.Ala249Thr) c.727G>A (p.Ala243Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.69951844G>C | CA353561577 | MITF | c.847G>C (p.Ala283Pro) c.844G>C (p.Ala282Pro) n.1069G>C c.820G>C (p.Ala274Pro) c.913G>C (p.Ala305Pro) c.592G>C (p.Ala198Pro) c.892G>C (p.Ala298Pro) c.895G>C (p.Ala299Pro) c.574G>C (p.Ala192Pro) c.865G>C (p.Ala289Pro) c.739G>C (p.Ala247Pro) c.*239G>C (n.*239G>C) c.406G>C (p.Ala136Pro) c.757G>C (p.Ala253Pro) c.910G>C (p.Ala304Pro) c.862G>C (p.Ala288Pro) c.745G>C (p.Ala249Pro) c.727G>C (p.Ala243Pro) | |
3 | g.69951844G= | CA1373443524 | MITF | c.847G= (p.Ala283=) c.844G= (p.Ala282=) n.1069G= c.820G= (p.Ala274=) c.913G= (p.Ala305=) c.592G= (p.Ala198=) c.892G= (p.Ala298=) c.895G= (p.Ala299=) c.574G= (p.Ala192=) c.865G= (p.Ala289=) c.739G= (p.Ala247=) c.*239G= (n.*239G=) c.406G= (p.Ala136=) c.757G= (p.Ala253=) c.910G= (p.Ala304=) c.862G= (p.Ala288=) c.745G= (p.Ala249=) c.727G= (p.Ala243=) | |
3 | g.69951844G>T | CA2490509 | MITF | c.847G>T (p.Ala283Ser) c.844G>T (p.Ala282Ser) n.1069G>T c.820G>T (p.Ala274Ser) c.913G>T (p.Ala305Ser) c.592G>T (p.Ala198Ser) c.892G>T (p.Ala298Ser) c.895G>T (p.Ala299Ser) c.574G>T (p.Ala192Ser) c.865G>T (p.Ala289Ser) c.739G>T (p.Ala247Ser) c.*239G>T (n.*239G>T) c.406G>T (p.Ala136Ser) c.757G>T (p.Ala253Ser) c.910G>T (p.Ala304Ser) c.862G>T (p.Ala288Ser) c.745G>T (p.Ala249Ser) c.727G>T (p.Ala243Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.69951845C>A | CA353561580 | MITF | c.848C>A (p.Ala283Glu) c.845C>A (p.Ala282Glu) n.1070C>A c.821C>A (p.Ala274Glu) c.914C>A (p.Ala305Glu) c.593C>A (p.Ala198Glu) c.893C>A (p.Ala298Glu) c.896C>A (p.Ala299Glu) c.575C>A (p.Ala192Glu) c.866C>A (p.Ala289Glu) c.740C>A (p.Ala247Glu) c.*240C>A (n.*240C>A) c.407C>A (p.Ala136Glu) c.758C>A (p.Ala253Glu) c.911C>A (p.Ala304Glu) c.863C>A (p.Ala288Glu) c.746C>A (p.Ala249Glu) c.728C>A (p.Ala243Glu) | |
3 | g.69951845C= | CA1373443529 | MITF | c.848C= (p.Ala283=) c.845C= (p.Ala282=) n.1070C= c.821C= (p.Ala274=) c.914C= (p.Ala305=) c.593C= (p.Ala198=) c.893C= (p.Ala298=) c.896C= (p.Ala299=) c.575C= (p.Ala192=) c.866C= (p.Ala289=) c.740C= (p.Ala247=) c.*240C= (n.*240C=) c.407C= (p.Ala136=) c.758C= (p.Ala253=) c.911C= (p.Ala304=) c.863C= (p.Ala288=) c.746C= (p.Ala249=) c.728C= (p.Ala243=) | |
3 | g.69951845C>G | CA353561578 | MITF | c.848C>G (p.Ala283Gly) c.845C>G (p.Ala282Gly) n.1070C>G c.821C>G (p.Ala274Gly) c.914C>G (p.Ala305Gly) c.593C>G (p.Ala198Gly) c.893C>G (p.Ala298Gly) c.896C>G (p.Ala299Gly) c.575C>G (p.Ala192Gly) c.866C>G (p.Ala289Gly) c.740C>G (p.Ala247Gly) c.*240C>G (n.*240C>G) c.407C>G (p.Ala136Gly) c.758C>G (p.Ala253Gly) c.911C>G (p.Ala304Gly) c.863C>G (p.Ala288Gly) c.746C>G (p.Ala249Gly) c.728C>G (p.Ala243Gly) | |
3 | g.69951845C>T | CA353561579 | MITF | c.848C>T (p.Ala283Val) c.845C>T (p.Ala282Val) n.1070C>T c.821C>T (p.Ala274Val) c.914C>T (p.Ala305Val) c.593C>T (p.Ala198Val) c.893C>T (p.Ala298Val) c.896C>T (p.Ala299Val) c.575C>T (p.Ala192Val) c.866C>T (p.Ala289Val) c.740C>T (p.Ala247Val) c.*240C>T (n.*240C>T) c.407C>T (p.Ala136Val) c.758C>T (p.Ala253Val) c.911C>T (p.Ala304Val) c.863C>T (p.Ala288Val) c.746C>T (p.Ala249Val) c.728C>T (p.Ala243Val) | gnomAD v4 |
3 | g.69951846A>C | CA434306275 | MITF | c.849A>C (p.Ala283=) c.846A>C (p.Ala282=) n.1071A>C c.822A>C (p.Ala274=) c.915A>C (p.Ala305=) c.594A>C (p.Ala198=) c.894A>C (p.Ala298=) c.897A>C (p.Ala299=) c.576A>C (p.Ala192=) c.867A>C (p.Ala289=) c.741A>C (p.Ala247=) c.*241A>C (n.*241A>C) c.408A>C (p.Ala136=) c.759A>C (p.Ala253=) c.912A>C (p.Ala304=) c.864A>C (p.Ala288=) c.747A>C (p.Ala249=) c.729A>C (p.Ala243=) | |
3 | g.69951846A>G | CA434306276 | MITF | c.849A>G (p.Ala283=) c.846A>G (p.Ala282=) n.1071A>G c.822A>G (p.Ala274=) c.915A>G (p.Ala305=) c.594A>G (p.Ala198=) c.894A>G (p.Ala298=) c.897A>G (p.Ala299=) c.576A>G (p.Ala192=) c.867A>G (p.Ala289=) c.741A>G (p.Ala247=) c.*241A>G (n.*241A>G) c.408A>G (p.Ala136=) c.759A>G (p.Ala253=) c.912A>G (p.Ala304=) c.864A>G (p.Ala288=) c.747A>G (p.Ala249=) c.729A>G (p.Ala243=) | |
3 | g.69951846A>T | CA434306277 | MITF | c.849A>T (p.Ala283=) c.846A>T (p.Ala282=) n.1071A>T c.822A>T (p.Ala274=) c.915A>T (p.Ala305=) c.594A>T (p.Ala198=) c.894A>T (p.Ala298=) c.897A>T (p.Ala299=) c.576A>T (p.Ala192=) c.867A>T (p.Ala289=) c.741A>T (p.Ala247=) c.*241A>T (n.*241A>T) c.408A>T (p.Ala136=) c.759A>T (p.Ala253=) c.912A>T (p.Ala304=) c.864A>T (p.Ala288=) c.747A>T (p.Ala249=) c.729A>T (p.Ala243=) | |
3 | g.69951846dup | CA1373443532 | MITF | c.849dup (p.Leu284ThrfsTer15) c.846dup (p.Leu283ThrfsTer15) n.1071dup c.822dup (p.Leu275ThrfsTer15) c.915dup (p.Leu306ThrfsTer15) c.594dup (p.Leu199ThrfsTer15) c.894dup (p.Leu299ThrfsTer15) c.897dup (p.Leu300ThrfsTer15) c.576dup (p.Leu193ThrfsTer15) c.867dup (p.Leu290ThrfsTer15) c.741dup (p.Leu248ThrfsTer15) c.*241dup (n.*241dup) c.408dup (p.Leu137ThrfsTer15) c.759dup (p.Leu254ThrfsTer15) c.912dup (p.Leu305ThrfsTer15) c.864dup (p.Leu289ThrfsTer15) c.747dup (p.Leu250ThrfsTer15) c.729dup (p.Leu244ThrfsTer15) | ClinVar dbSNP |
3 | g.69951847C>A | CA353561581 | MITF | c.850C>A (p.Leu284Met) c.847C>A (p.Leu283Met) n.1072C>A c.823C>A (p.Leu275Met) c.916C>A (p.Leu306Met) c.595C>A (p.Leu199Met) c.895C>A (p.Leu299Met) c.898C>A (p.Leu300Met) c.577C>A (p.Leu193Met) c.868C>A (p.Leu290Met) c.742C>A (p.Leu248Met) c.*242C>A (n.*242C>A) c.409C>A (p.Leu137Met) c.760C>A (p.Leu254Met) c.913C>A (p.Leu305Met) c.865C>A (p.Leu289Met) c.748C>A (p.Leu250Met) c.730C>A (p.Leu244Met) | |
3 | g.69951847C= | CA1373443534 | MITF | c.850C= (p.Leu284=) c.847C= (p.Leu283=) n.1072C= c.823C= (p.Leu275=) c.916C= (p.Leu306=) c.595C= (p.Leu199=) c.895C= (p.Leu299=) c.898C= (p.Leu300=) c.577C= (p.Leu193=) c.868C= (p.Leu290=) c.742C= (p.Leu248=) c.*242C= (n.*242C=) c.409C= (p.Leu137=) c.760C= (p.Leu254=) c.913C= (p.Leu305=) c.865C= (p.Leu289=) c.748C= (p.Leu250=) c.730C= (p.Leu244=) | |
3 | g.69951847C>G | CA353561582 | MITF | c.850C>G (p.Leu284Val) c.847C>G (p.Leu283Val) n.1072C>G c.823C>G (p.Leu275Val) c.916C>G (p.Leu306Val) c.595C>G (p.Leu199Val) c.895C>G (p.Leu299Val) c.898C>G (p.Leu300Val) c.577C>G (p.Leu193Val) c.868C>G (p.Leu290Val) c.742C>G (p.Leu248Val) c.*242C>G (n.*242C>G) c.409C>G (p.Leu137Val) c.760C>G (p.Leu254Val) c.913C>G (p.Leu305Val) c.865C>G (p.Leu289Val) c.748C>G (p.Leu250Val) c.730C>G (p.Leu244Val) | |
3 | g.69951847C>T | CA434306278 | MITF | c.850C>T (p.Leu284=) c.847C>T (p.Leu283=) n.1072C>T c.823C>T (p.Leu275=) c.916C>T (p.Leu306=) c.595C>T (p.Leu199=) c.895C>T (p.Leu299=) c.898C>T (p.Leu300=) c.577C>T (p.Leu193=) c.868C>T (p.Leu290=) c.742C>T (p.Leu248=) c.*242C>T (n.*242C>T) c.409C>T (p.Leu137=) c.760C>T (p.Leu254=) c.913C>T (p.Leu305=) c.865C>T (p.Leu289=) c.748C>T (p.Leu250=) c.730C>T (p.Leu244=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69951848T>A | CA353561583 | MITF | c.851T>A (p.Leu284Gln) c.848T>A (p.Leu283Gln) n.1073T>A c.824T>A (p.Leu275Gln) c.917T>A (p.Leu306Gln) c.596T>A (p.Leu199Gln) c.896T>A (p.Leu299Gln) c.899T>A (p.Leu300Gln) c.578T>A (p.Leu193Gln) c.869T>A (p.Leu290Gln) c.743T>A (p.Leu248Gln) c.*243T>A (n.*243T>A) c.410T>A (p.Leu137Gln) c.761T>A (p.Leu254Gln) c.914T>A (p.Leu305Gln) c.866T>A (p.Leu289Gln) c.749T>A (p.Leu250Gln) c.731T>A (p.Leu244Gln) | |
3 | g.69951848T>C | CA353561584 | MITF | c.851T>C (p.Leu284Pro) c.848T>C (p.Leu283Pro) n.1073T>C c.824T>C (p.Leu275Pro) c.917T>C (p.Leu306Pro) c.596T>C (p.Leu199Pro) c.896T>C (p.Leu299Pro) c.899T>C (p.Leu300Pro) c.578T>C (p.Leu193Pro) c.869T>C (p.Leu290Pro) c.743T>C (p.Leu248Pro) c.*243T>C (n.*243T>C) c.410T>C (p.Leu137Pro) c.761T>C (p.Leu254Pro) c.914T>C (p.Leu305Pro) c.866T>C (p.Leu289Pro) c.749T>C (p.Leu250Pro) c.731T>C (p.Leu244Pro) | |
3 | g.69951848T>G | CA353561585 | MITF | c.851T>G (p.Leu284Arg) c.848T>G (p.Leu283Arg) n.1073T>G c.824T>G (p.Leu275Arg) c.917T>G (p.Leu306Arg) c.596T>G (p.Leu199Arg) c.896T>G (p.Leu299Arg) c.899T>G (p.Leu300Arg) c.578T>G (p.Leu193Arg) c.869T>G (p.Leu290Arg) c.743T>G (p.Leu248Arg) c.*243T>G (n.*243T>G) c.410T>G (p.Leu137Arg) c.761T>G (p.Leu254Arg) c.914T>G (p.Leu305Arg) c.866T>G (p.Leu289Arg) c.749T>G (p.Leu250Arg) c.731T>G (p.Leu244Arg) | |
3 | g.69951849G>A | CA434306279 | MITF | c.852G>A (p.Leu284=) c.849G>A (p.Leu283=) n.1074G>A c.825G>A (p.Leu275=) c.918G>A (p.Leu306=) c.597G>A (p.Leu199=) c.897G>A (p.Leu299=) c.900G>A (p.Leu300=) c.579G>A (p.Leu193=) c.870G>A (p.Leu290=) c.744G>A (p.Leu248=) c.*244G>A (n.*244G>A) c.411G>A (p.Leu137=) c.762G>A (p.Leu254=) c.915G>A (p.Leu305=) c.867G>A (p.Leu289=) c.750G>A (p.Leu250=) c.732G>A (p.Leu244=) | ClinVar |
3 | g.69951849G>C | CA434306280 | MITF | c.852G>C (p.Leu284=) c.849G>C (p.Leu283=) n.1074G>C c.825G>C (p.Leu275=) c.918G>C (p.Leu306=) c.597G>C (p.Leu199=) c.897G>C (p.Leu299=) c.900G>C (p.Leu300=) c.579G>C (p.Leu193=) c.870G>C (p.Leu290=) c.744G>C (p.Leu248=) c.*244G>C (n.*244G>C) c.411G>C (p.Leu137=) c.762G>C (p.Leu254=) c.915G>C (p.Leu305=) c.867G>C (p.Leu289=) c.750G>C (p.Leu250=) c.732G>C (p.Leu244=) | |
3 | g.69951849G>T | CA434306281 | MITF | c.852G>T (p.Leu284=) c.849G>T (p.Leu283=) n.1074G>T c.825G>T (p.Leu275=) c.918G>T (p.Leu306=) c.597G>T (p.Leu199=) c.897G>T (p.Leu299=) c.900G>T (p.Leu300=) c.579G>T (p.Leu193=) c.870G>T (p.Leu290=) c.744G>T (p.Leu248=) c.*244G>T (n.*244G>T) c.411G>T (p.Leu137=) c.762G>T (p.Leu254=) c.915G>T (p.Leu305=) c.867G>T (p.Leu289=) c.750G>T (p.Leu250=) c.732G>T (p.Leu244=) | COSMIC COSMIC |
3 | g.69951850G>A | CA353561586 | MITF | c.853G>A (p.Ala285Thr) c.850G>A (p.Ala284Thr) n.1075G>A c.826G>A (p.Ala276Thr) c.919G>A (p.Ala307Thr) c.598G>A (p.Ala200Thr) c.898G>A (p.Ala300Thr) c.901G>A (p.Ala301Thr) c.580G>A (p.Ala194Thr) c.871G>A (p.Ala291Thr) c.745G>A (p.Ala249Thr) c.*245G>A (n.*245G>A) c.412G>A (p.Ala138Thr) c.763G>A (p.Ala255Thr) c.916G>A (p.Ala306Thr) c.868G>A (p.Ala290Thr) c.751G>A (p.Ala251Thr) c.733G>A (p.Ala245Thr) | dbSNP |
3 | g.69951850G>C | CA353561587 | MITF | c.853G>C (p.Ala285Pro) c.850G>C (p.Ala284Pro) n.1075G>C c.826G>C (p.Ala276Pro) c.919G>C (p.Ala307Pro) c.598G>C (p.Ala200Pro) c.898G>C (p.Ala300Pro) c.901G>C (p.Ala301Pro) c.580G>C (p.Ala194Pro) c.871G>C (p.Ala291Pro) c.745G>C (p.Ala249Pro) c.*245G>C (n.*245G>C) c.412G>C (p.Ala138Pro) c.763G>C (p.Ala255Pro) c.916G>C (p.Ala306Pro) c.868G>C (p.Ala290Pro) c.751G>C (p.Ala251Pro) c.733G>C (p.Ala245Pro) | |
3 | g.69951850G= | CA1373443536 | MITF | c.853G= (p.Ala285=) c.850G= (p.Ala284=) n.1075G= c.826G= (p.Ala276=) c.919G= (p.Ala307=) c.598G= (p.Ala200=) c.898G= (p.Ala300=) c.901G= (p.Ala301=) c.580G= (p.Ala194=) c.871G= (p.Ala291=) c.745G= (p.Ala249=) c.*245G= (n.*245G=) c.412G= (p.Ala138=) c.763G= (p.Ala255=) c.916G= (p.Ala306=) c.868G= (p.Ala290=) c.751G= (p.Ala251=) c.733G= (p.Ala245=) | |
3 | g.69951850G>T | CA353561588 | MITF | c.853G>T (p.Ala285Ser) c.850G>T (p.Ala284Ser) n.1075G>T c.826G>T (p.Ala276Ser) c.919G>T (p.Ala307Ser) c.598G>T (p.Ala200Ser) c.898G>T (p.Ala300Ser) c.901G>T (p.Ala301Ser) c.580G>T (p.Ala194Ser) c.871G>T (p.Ala291Ser) c.745G>T (p.Ala249Ser) c.*245G>T (n.*245G>T) c.412G>T (p.Ala138Ser) c.763G>T (p.Ala255Ser) c.916G>T (p.Ala306Ser) c.868G>T (p.Ala290Ser) c.751G>T (p.Ala251Ser) c.733G>T (p.Ala245Ser) | dbSNP |
3 | g.69951851C>A | CA353561589 | MITF | c.854C>A (p.Ala285Asp) c.851C>A (p.Ala284Asp) n.1076C>A c.827C>A (p.Ala276Asp) c.920C>A (p.Ala307Asp) c.599C>A (p.Ala200Asp) c.899C>A (p.Ala300Asp) c.902C>A (p.Ala301Asp) c.581C>A (p.Ala194Asp) c.872C>A (p.Ala291Asp) c.746C>A (p.Ala249Asp) c.*246C>A (n.*246C>A) c.413C>A (p.Ala138Asp) c.764C>A (p.Ala255Asp) c.917C>A (p.Ala306Asp) c.869C>A (p.Ala290Asp) c.752C>A (p.Ala251Asp) c.734C>A (p.Ala245Asp) | dbSNP |
3 | g.69951851C>G | CA353561590 | MITF | c.854C>G (p.Ala285Gly) c.851C>G (p.Ala284Gly) n.1076C>G c.827C>G (p.Ala276Gly) c.920C>G (p.Ala307Gly) c.599C>G (p.Ala200Gly) c.899C>G (p.Ala300Gly) c.902C>G (p.Ala301Gly) c.581C>G (p.Ala194Gly) c.872C>G (p.Ala291Gly) c.746C>G (p.Ala249Gly) c.*246C>G (n.*246C>G) c.413C>G (p.Ala138Gly) c.764C>G (p.Ala255Gly) c.917C>G (p.Ala306Gly) c.869C>G (p.Ala290Gly) c.752C>G (p.Ala251Gly) c.734C>G (p.Ala245Gly) | |
3 | g.69951851C>T | CA353561591 | MITF | c.854C>T (p.Ala285Val) c.851C>T (p.Ala284Val) n.1076C>T c.827C>T (p.Ala276Val) c.920C>T (p.Ala307Val) c.599C>T (p.Ala200Val) c.899C>T (p.Ala300Val) c.902C>T (p.Ala301Val) c.581C>T (p.Ala194Val) c.872C>T (p.Ala291Val) c.746C>T (p.Ala249Val) c.*246C>T (n.*246C>T) c.413C>T (p.Ala138Val) c.764C>T (p.Ala255Val) c.917C>T (p.Ala306Val) c.869C>T (p.Ala290Val) c.752C>T (p.Ala251Val) c.734C>T (p.Ala245Val) | dbSNP |
3 | g.69951852C>A | CA434306282 | MITF | c.855C>A (p.Ala285=) c.852C>A (p.Ala284=) n.1077C>A c.828C>A (p.Ala276=) c.921C>A (p.Ala307=) c.600C>A (p.Ala200=) c.900C>A (p.Ala300=) c.903C>A (p.Ala301=) c.582C>A (p.Ala194=) c.873C>A (p.Ala291=) c.747C>A (p.Ala249=) c.*247C>A (n.*247C>A) c.414C>A (p.Ala138=) c.765C>A (p.Ala255=) c.918C>A (p.Ala306=) c.870C>A (p.Ala290=) c.753C>A (p.Ala251=) c.735C>A (p.Ala245=) | |
3 | g.69951852C= | CA1373443540 | MITF | c.855C= (p.Ala285=) c.852C= (p.Ala284=) n.1077C= c.828C= (p.Ala276=) c.921C= (p.Ala307=) c.600C= (p.Ala200=) c.900C= (p.Ala300=) c.903C= (p.Ala301=) c.582C= (p.Ala194=) c.873C= (p.Ala291=) c.747C= (p.Ala249=) c.*247C= (n.*247C=) c.414C= (p.Ala138=) c.765C= (p.Ala255=) c.918C= (p.Ala306=) c.870C= (p.Ala290=) c.753C= (p.Ala251=) c.735C= (p.Ala245=) | |
3 | g.69951852C>G | CA434306283 | MITF | c.855C>G (p.Ala285=) c.852C>G (p.Ala284=) n.1077C>G c.828C>G (p.Ala276=) c.921C>G (p.Ala307=) c.600C>G (p.Ala200=) c.900C>G (p.Ala300=) c.903C>G (p.Ala301=) c.582C>G (p.Ala194=) c.873C>G (p.Ala291=) c.747C>G (p.Ala249=) c.*247C>G (n.*247C>G) c.414C>G (p.Ala138=) c.765C>G (p.Ala255=) c.918C>G (p.Ala306=) c.870C>G (p.Ala290=) c.753C>G (p.Ala251=) c.735C>G (p.Ala245=) | |
3 | g.69951852C>T | CA77002072 | MITF | c.855C>T (p.Ala285=) c.852C>T (p.Ala284=) n.1077C>T c.828C>T (p.Ala276=) c.921C>T (p.Ala307=) c.600C>T (p.Ala200=) c.900C>T (p.Ala300=) c.903C>T (p.Ala301=) c.582C>T (p.Ala194=) c.873C>T (p.Ala291=) c.747C>T (p.Ala249=) c.*247C>T (n.*247C>T) c.414C>T (p.Ala138=) c.765C>T (p.Ala255=) c.918C>T (p.Ala306=) c.870C>T (p.Ala290=) c.753C>T (p.Ala251=) c.735C>T (p.Ala245=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69951853A>C | CA353561594 | MITF | c.856A>C (p.Lys286Gln) c.853A>C (p.Lys285Gln) n.1078A>C c.829A>C (p.Lys277Gln) c.922A>C (p.Lys308Gln) c.601A>C (p.Lys201Gln) c.901A>C (p.Lys301Gln) c.904A>C (p.Lys302Gln) c.583A>C (p.Lys195Gln) c.874A>C (p.Lys292Gln) c.748A>C (p.Lys250Gln) c.*248A>C (n.*248A>C) c.415A>C (p.Lys139Gln) c.766A>C (p.Lys256Gln) c.919A>C (p.Lys307Gln) c.871A>C (p.Lys291Gln) c.754A>C (p.Lys252Gln) c.736A>C (p.Lys246Gln) | |
3 | g.69951853A>G | CA353561593 | MITF | c.856A>G (p.Lys286Glu) c.853A>G (p.Lys285Glu) n.1078A>G c.829A>G (p.Lys277Glu) c.922A>G (p.Lys308Glu) c.601A>G (p.Lys201Glu) c.901A>G (p.Lys301Glu) c.904A>G (p.Lys302Glu) c.583A>G (p.Lys195Glu) c.874A>G (p.Lys292Glu) c.748A>G (p.Lys250Glu) c.*248A>G (n.*248A>G) c.415A>G (p.Lys139Glu) c.766A>G (p.Lys256Glu) c.919A>G (p.Lys307Glu) c.871A>G (p.Lys291Glu) c.754A>G (p.Lys252Glu) c.736A>G (p.Lys246Glu) | |
3 | g.69951853A>T | CA353561592 | MITF | c.856A>T (p.Lys286Ter) c.853A>T (p.Lys285Ter) n.1078A>T c.829A>T (p.Lys277Ter) c.922A>T (p.Lys308Ter) c.601A>T (p.Lys201Ter) c.901A>T (p.Lys301Ter) c.904A>T (p.Lys302Ter) c.583A>T (p.Lys195Ter) c.874A>T (p.Lys292Ter) c.748A>T (p.Lys250Ter) c.*248A>T (n.*248A>T) c.415A>T (p.Lys139Ter) c.766A>T (p.Lys256Ter) c.919A>T (p.Lys307Ter) c.871A>T (p.Lys291Ter) c.754A>T (p.Lys252Ter) c.736A>T (p.Lys246Ter) | |
3 | g.69951854A>C | CA353561595 | MITF | c.857A>C (p.Lys286Thr) c.854A>C (p.Lys285Thr) n.1079A>C c.830A>C (p.Lys277Thr) c.923A>C (p.Lys308Thr) c.602A>C (p.Lys201Thr) c.902A>C (p.Lys301Thr) c.905A>C (p.Lys302Thr) c.584A>C (p.Lys195Thr) c.875A>C (p.Lys292Thr) c.749A>C (p.Lys250Thr) c.*249A>C (n.*249A>C) c.416A>C (p.Lys139Thr) c.767A>C (p.Lys256Thr) c.920A>C (p.Lys307Thr) c.872A>C (p.Lys291Thr) c.755A>C (p.Lys252Thr) c.737A>C (p.Lys246Thr) | |
3 | g.69951854A>G | CA353561596 | MITF | c.857A>G (p.Lys286Arg) c.854A>G (p.Lys285Arg) n.1079A>G c.830A>G (p.Lys277Arg) c.923A>G (p.Lys308Arg) c.602A>G (p.Lys201Arg) c.902A>G (p.Lys301Arg) c.905A>G (p.Lys302Arg) c.584A>G (p.Lys195Arg) c.875A>G (p.Lys292Arg) c.749A>G (p.Lys250Arg) c.*249A>G (n.*249A>G) c.416A>G (p.Lys139Arg) c.767A>G (p.Lys256Arg) c.920A>G (p.Lys307Arg) c.872A>G (p.Lys291Arg) c.755A>G (p.Lys252Arg) c.737A>G (p.Lys246Arg) | gnomAD v4 |
3 | g.69951854A>T | CA353561597 | MITF | c.857A>T (p.Lys286Ile) c.854A>T (p.Lys285Ile) n.1079A>T c.830A>T (p.Lys277Ile) c.923A>T (p.Lys308Ile) c.602A>T (p.Lys201Ile) c.902A>T (p.Lys301Ile) c.905A>T (p.Lys302Ile) c.584A>T (p.Lys195Ile) c.875A>T (p.Lys292Ile) c.749A>T (p.Lys250Ile) c.*249A>T (n.*249A>T) c.416A>T (p.Lys139Ile) c.767A>T (p.Lys256Ile) c.920A>T (p.Lys307Ile) c.872A>T (p.Lys291Ile) c.755A>T (p.Lys252Ile) c.737A>T (p.Lys246Ile) | |
3 | g.69951855A>C | CA353561598 | MITF | c.858A>C (p.Lys286Asn) c.855A>C (p.Lys285Asn) n.1080A>C c.831A>C (p.Lys277Asn) c.924A>C (p.Lys308Asn) c.603A>C (p.Lys201Asn) c.903A>C (p.Lys301Asn) c.906A>C (p.Lys302Asn) c.585A>C (p.Lys195Asn) c.876A>C (p.Lys292Asn) c.750A>C (p.Lys250Asn) c.*250A>C (n.*250A>C) c.417A>C (p.Lys139Asn) c.768A>C (p.Lys256Asn) c.921A>C (p.Lys307Asn) c.873A>C (p.Lys291Asn) c.756A>C (p.Lys252Asn) c.738A>C (p.Lys246Asn) | |
3 | g.69951855A>G | CA434306284 | MITF | c.858A>G (p.Lys286=) c.855A>G (p.Lys285=) n.1080A>G c.831A>G (p.Lys277=) c.924A>G (p.Lys308=) c.603A>G (p.Lys201=) c.903A>G (p.Lys301=) c.906A>G (p.Lys302=) c.585A>G (p.Lys195=) c.876A>G (p.Lys292=) c.750A>G (p.Lys250=) c.*250A>G (n.*250A>G) c.417A>G (p.Lys139=) c.768A>G (p.Lys256=) c.921A>G (p.Lys307=) c.873A>G (p.Lys291=) c.756A>G (p.Lys252=) c.738A>G (p.Lys246=) | gnomAD v4 |
3 | g.69951855A>T | CA353561599 | MITF | c.858A>T (p.Lys286Asn) c.855A>T (p.Lys285Asn) n.1080A>T c.831A>T (p.Lys277Asn) c.924A>T (p.Lys308Asn) c.603A>T (p.Lys201Asn) c.903A>T (p.Lys301Asn) c.906A>T (p.Lys302Asn) c.585A>T (p.Lys195Asn) c.876A>T (p.Lys292Asn) c.750A>T (p.Lys250Asn) c.*250A>T (n.*250A>T) c.417A>T (p.Lys139Asn) c.768A>T (p.Lys256Asn) c.921A>T (p.Lys307Asn) c.873A>T (p.Lys291Asn) c.756A>T (p.Lys252Asn) c.738A>T (p.Lys246Asn) | |
3 | g.69951856G>A | CA353561600 | MITF | c.859G>A (p.Glu287Lys) c.856G>A (p.Glu286Lys) n.1081G>A c.832G>A (p.Glu278Lys) c.925G>A (p.Glu309Lys) c.604G>A (p.Glu202Lys) c.904G>A (p.Glu302Lys) c.907G>A (p.Glu303Lys) c.586G>A (p.Glu196Lys) c.877G>A (p.Glu293Lys) c.751G>A (p.Glu251Lys) c.*251G>A (n.*251G>A) c.418G>A (p.Glu140Lys) c.769G>A (p.Glu257Lys) c.922G>A (p.Glu308Lys) c.874G>A (p.Glu292Lys) c.757G>A (p.Glu253Lys) c.739G>A (p.Glu247Lys) | ClinVar dbSNP |
3 | g.69951856G>C | CA353561601 | MITF | c.859G>C (p.Glu287Gln) c.856G>C (p.Glu286Gln) n.1081G>C c.832G>C (p.Glu278Gln) c.925G>C (p.Glu309Gln) c.604G>C (p.Glu202Gln) c.904G>C (p.Glu302Gln) c.907G>C (p.Glu303Gln) c.586G>C (p.Glu196Gln) c.877G>C (p.Glu293Gln) c.751G>C (p.Glu251Gln) c.*251G>C (n.*251G>C) c.418G>C (p.Glu140Gln) c.769G>C (p.Glu257Gln) c.922G>C (p.Glu308Gln) c.874G>C (p.Glu292Gln) c.757G>C (p.Glu253Gln) c.739G>C (p.Glu247Gln) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.69951856G= | CA1373443547 | MITF | c.859G= (p.Glu287=) c.856G= (p.Glu286=) n.1081G= c.832G= (p.Glu278=) c.925G= (p.Glu309=) c.604G= (p.Glu202=) c.904G= (p.Glu302=) c.907G= (p.Glu303=) c.586G= (p.Glu196=) c.877G= (p.Glu293=) c.751G= (p.Glu251=) c.*251G= (n.*251G=) c.418G= (p.Glu140=) c.769G= (p.Glu257=) c.922G= (p.Glu308=) c.874G= (p.Glu292=) c.757G= (p.Glu253=) c.739G= (p.Glu247=) | |
3 | g.69951856G>T | CA353561602 | MITF | c.859G>T (p.Glu287Ter) c.856G>T (p.Glu286Ter) n.1081G>T c.832G>T (p.Glu278Ter) c.925G>T (p.Glu309Ter) c.604G>T (p.Glu202Ter) c.904G>T (p.Glu302Ter) c.907G>T (p.Glu303Ter) c.586G>T (p.Glu196Ter) c.877G>T (p.Glu293Ter) c.751G>T (p.Glu251Ter) c.*251G>T (n.*251G>T) c.418G>T (p.Glu140Ter) c.769G>T (p.Glu257Ter) c.922G>T (p.Glu308Ter) c.874G>T (p.Glu292Ter) c.757G>T (p.Glu253Ter) c.739G>T (p.Glu247Ter) | |
3 | g.69951857A>C | CA353561603 | MITF | c.860A>C (p.Glu287Ala) c.857A>C (p.Glu286Ala) n.1082A>C c.833A>C (p.Glu278Ala) c.926A>C (p.Glu309Ala) c.605A>C (p.Glu202Ala) c.905A>C (p.Glu302Ala) c.908A>C (p.Glu303Ala) c.587A>C (p.Glu196Ala) c.878A>C (p.Glu293Ala) c.752A>C (p.Glu251Ala) c.*252A>C (n.*252A>C) c.419A>C (p.Glu140Ala) c.770A>C (p.Glu257Ala) c.923A>C (p.Glu308Ala) c.875A>C (p.Glu292Ala) c.758A>C (p.Glu253Ala) c.740A>C (p.Glu247Ala) | |
3 | g.69951857A>G | CA353561605 | MITF | c.860A>G (p.Glu287Gly) c.857A>G (p.Glu286Gly) n.1082A>G c.833A>G (p.Glu278Gly) c.926A>G (p.Glu309Gly) c.605A>G (p.Glu202Gly) c.905A>G (p.Glu302Gly) c.908A>G (p.Glu303Gly) c.587A>G (p.Glu196Gly) c.878A>G (p.Glu293Gly) c.752A>G (p.Glu251Gly) c.*252A>G (n.*252A>G) c.419A>G (p.Glu140Gly) c.770A>G (p.Glu257Gly) c.923A>G (p.Glu308Gly) c.875A>G (p.Glu292Gly) c.758A>G (p.Glu253Gly) c.740A>G (p.Glu247Gly) | COSMIC COSMIC COSMIC COSMIC |
3 | g.69951857A>T | CA353561604 | MITF | c.860A>T (p.Glu287Val) c.857A>T (p.Glu286Val) n.1082A>T c.833A>T (p.Glu278Val) c.926A>T (p.Glu309Val) c.605A>T (p.Glu202Val) c.905A>T (p.Glu302Val) c.908A>T (p.Glu303Val) c.587A>T (p.Glu196Val) c.878A>T (p.Glu293Val) c.752A>T (p.Glu251Val) c.*252A>T (n.*252A>T) c.419A>T (p.Glu140Val) c.770A>T (p.Glu257Val) c.923A>T (p.Glu308Val) c.875A>T (p.Glu292Val) c.758A>T (p.Glu253Val) c.740A>T (p.Glu247Val) | |
3 | g.69951858G>A | CA434306285 | MITF | c.861G>A (p.Glu287=) c.858G>A (p.Glu286=) n.1083G>A c.834G>A (p.Glu278=) c.927G>A (p.Glu309=) c.606G>A (p.Glu202=) c.906G>A (p.Glu302=) c.909G>A (p.Glu303=) c.588G>A (p.Glu196=) c.879G>A (p.Glu293=) c.753G>A (p.Glu251=) c.*253G>A (n.*253G>A) c.420G>A (p.Glu140=) c.771G>A (p.Glu257=) c.924G>A (p.Glu308=) c.876G>A (p.Glu292=) c.759G>A (p.Glu253=) c.741G>A (p.Glu247=) | ClinVar gnomAD v4 |
3 | g.69951858G>C | CA353561606 | MITF | c.861G>C (p.Glu287Asp) c.858G>C (p.Glu286Asp) n.1083G>C c.834G>C (p.Glu278Asp) c.927G>C (p.Glu309Asp) c.606G>C (p.Glu202Asp) c.906G>C (p.Glu302Asp) c.909G>C (p.Glu303Asp) c.588G>C (p.Glu196Asp) c.879G>C (p.Glu293Asp) c.753G>C (p.Glu251Asp) c.*253G>C (n.*253G>C) c.420G>C (p.Glu140Asp) c.771G>C (p.Glu257Asp) c.924G>C (p.Glu308Asp) c.876G>C (p.Glu292Asp) c.759G>C (p.Glu253Asp) c.741G>C (p.Glu247Asp) | |
3 | g.69951858G>T | CA353561607 | MITF | c.861G>T (p.Glu287Asp) c.858G>T (p.Glu286Asp) n.1083G>T c.834G>T (p.Glu278Asp) c.927G>T (p.Glu309Asp) c.606G>T (p.Glu202Asp) c.906G>T (p.Glu302Asp) c.909G>T (p.Glu303Asp) c.588G>T (p.Glu196Asp) c.879G>T (p.Glu293Asp) c.753G>T (p.Glu251Asp) c.*253G>T (n.*253G>T) c.420G>T (p.Glu140Asp) c.771G>T (p.Glu257Asp) c.924G>T (p.Glu308Asp) c.876G>T (p.Glu292Asp) c.759G>T (p.Glu253Asp) c.741G>T (p.Glu247Asp) | |
3 | g.69951859A= | CA1373443553 | MITF | c.862A= (p.Arg288=) c.859A= (p.Arg287=) n.1084A= c.835A= (p.Arg279=) c.928A= (p.Arg310=) c.607A= (p.Arg203=) c.907A= (p.Arg303=) c.910A= (p.Arg304=) c.589A= (p.Arg197=) c.880A= (p.Arg294=) c.754A= (p.Arg252=) c.*254A= (n.*254A=) c.421A= (p.Arg141=) c.772A= (p.Arg258=) c.925A= (p.Arg309=) c.877A= (p.Arg293=) c.760A= (p.Arg254=) c.742A= (p.Arg248=) | |
3 | g.69951859A>C | CA434306286 | MITF | c.862A>C (p.Arg288=) c.859A>C (p.Arg287=) n.1084A>C c.835A>C (p.Arg279=) c.928A>C (p.Arg310=) c.607A>C (p.Arg203=) c.907A>C (p.Arg303=) c.910A>C (p.Arg304=) c.589A>C (p.Arg197=) c.880A>C (p.Arg294=) c.754A>C (p.Arg252=) c.*254A>C (n.*254A>C) c.421A>C (p.Arg141=) c.772A>C (p.Arg258=) c.925A>C (p.Arg309=) c.877A>C (p.Arg293=) c.760A>C (p.Arg254=) c.742A>C (p.Arg248=) | |
3 | g.69951859A>G | CA353561608 | MITF | c.862A>G (p.Arg288Gly) c.859A>G (p.Arg287Gly) n.1084A>G c.835A>G (p.Arg279Gly) c.928A>G (p.Arg310Gly) c.607A>G (p.Arg203Gly) c.907A>G (p.Arg303Gly) c.910A>G (p.Arg304Gly) c.589A>G (p.Arg197Gly) c.880A>G (p.Arg294Gly) c.754A>G (p.Arg252Gly) c.*254A>G (n.*254A>G) c.421A>G (p.Arg141Gly) c.772A>G (p.Arg258Gly) c.925A>G (p.Arg309Gly) c.877A>G (p.Arg293Gly) c.760A>G (p.Arg254Gly) c.742A>G (p.Arg248Gly) | ClinVar dbSNP |
3 | g.69951859A>T | CA353561609 | MITF | c.862A>T (p.Arg288Trp) c.859A>T (p.Arg287Trp) n.1084A>T c.835A>T (p.Arg279Trp) c.928A>T (p.Arg310Trp) c.607A>T (p.Arg203Trp) c.907A>T (p.Arg303Trp) c.910A>T (p.Arg304Trp) c.589A>T (p.Arg197Trp) c.880A>T (p.Arg294Trp) c.754A>T (p.Arg252Trp) c.*254A>T (n.*254A>T) c.421A>T (p.Arg141Trp) c.772A>T (p.Arg258Trp) c.925A>T (p.Arg309Trp) c.877A>T (p.Arg293Trp) c.760A>T (p.Arg254Trp) c.742A>T (p.Arg248Trp) | |
3 | g.69951860G>A | CA353561610 | MITF | c.863G>A (p.Arg288Lys) c.860G>A (p.Arg287Lys) n.1085G>A c.836G>A (p.Arg279Lys) c.929G>A (p.Arg310Lys) c.608G>A (p.Arg203Lys) c.908G>A (p.Arg303Lys) c.911G>A (p.Arg304Lys) c.590G>A (p.Arg197Lys) c.881G>A (p.Arg294Lys) c.755G>A (p.Arg252Lys) c.*255G>A (n.*255G>A) c.422G>A (p.Arg141Lys) c.773G>A (p.Arg258Lys) c.926G>A (p.Arg309Lys) c.878G>A (p.Arg293Lys) c.761G>A (p.Arg254Lys) c.743G>A (p.Arg248Lys) | ClinVar |
3 | g.69951860G>C | CA353561612 | MITF | c.863G>C (p.Arg288Thr) c.860G>C (p.Arg287Thr) n.1085G>C c.836G>C (p.Arg279Thr) c.929G>C (p.Arg310Thr) c.608G>C (p.Arg203Thr) c.908G>C (p.Arg303Thr) c.911G>C (p.Arg304Thr) c.590G>C (p.Arg197Thr) c.881G>C (p.Arg294Thr) c.755G>C (p.Arg252Thr) c.*255G>C (n.*255G>C) c.422G>C (p.Arg141Thr) c.773G>C (p.Arg258Thr) c.926G>C (p.Arg309Thr) c.878G>C (p.Arg293Thr) c.761G>C (p.Arg254Thr) c.743G>C (p.Arg248Thr) | |
3 | g.69951860G>T | CA353561611 | MITF | c.863G>T (p.Arg288Met) c.860G>T (p.Arg287Met) n.1085G>T c.836G>T (p.Arg279Met) c.929G>T (p.Arg310Met) c.608G>T (p.Arg203Met) c.908G>T (p.Arg303Met) c.911G>T (p.Arg304Met) c.590G>T (p.Arg197Met) c.881G>T (p.Arg294Met) c.755G>T (p.Arg252Met) c.*255G>T (n.*255G>T) c.422G>T (p.Arg141Met) c.773G>T (p.Arg258Met) c.926G>T (p.Arg309Met) c.878G>T (p.Arg293Met) c.761G>T (p.Arg254Met) c.743G>T (p.Arg248Met) | |
3 | g.69951861G>A | CA2490510 | MITF | c.864G>A (p.Arg288=) c.861G>A (p.Arg287=) n.1086G>A c.837G>A (p.Arg279=) c.930G>A (p.Arg310=) c.609G>A (p.Arg203=) c.909G>A (p.Arg303=) c.912G>A (p.Arg304=) c.591G>A (p.Arg197=) c.882G>A (p.Arg294=) c.756G>A (p.Arg252=) c.*256G>A (n.*256G>A) c.423G>A (p.Arg141=) c.774G>A (p.Arg258=) c.927G>A (p.Arg309=) c.879G>A (p.Arg293=) c.762G>A (p.Arg254=) c.744G>A (p.Arg248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.69951861G>C | CA353561613 | MITF | c.864G>C (p.Arg288Ser) c.861G>C (p.Arg287Ser) n.1086G>C c.837G>C (p.Arg279Ser) c.930G>C (p.Arg310Ser) c.609G>C (p.Arg203Ser) c.909G>C (p.Arg303Ser) c.912G>C (p.Arg304Ser) c.591G>C (p.Arg197Ser) c.882G>C (p.Arg294Ser) c.756G>C (p.Arg252Ser) c.*256G>C (n.*256G>C) c.423G>C (p.Arg141Ser) c.774G>C (p.Arg258Ser) c.927G>C (p.Arg309Ser) c.879G>C (p.Arg293Ser) c.762G>C (p.Arg254Ser) c.744G>C (p.Arg248Ser) | |
3 | g.69951861G= | CA1373443555 | MITF | c.864G= (p.Arg288=) c.861G= (p.Arg287=) n.1086G= c.837G= (p.Arg279=) c.930G= (p.Arg310=) c.609G= (p.Arg203=) c.909G= (p.Arg303=) c.912G= (p.Arg304=) c.591G= (p.Arg197=) c.882G= (p.Arg294=) c.756G= (p.Arg252=) c.*256G= (n.*256G=) c.423G= (p.Arg141=) c.774G= (p.Arg258=) c.927G= (p.Arg309=) c.879G= (p.Arg293=) c.762G= (p.Arg254=) c.744G= (p.Arg248=) | |
3 | g.69951861G>T | CA353561614 | MITF | c.864G>T (p.Arg288Ser) c.861G>T (p.Arg287Ser) n.1086G>T c.837G>T (p.Arg279Ser) c.930G>T (p.Arg310Ser) c.609G>T (p.Arg203Ser) c.909G>T (p.Arg303Ser) c.912G>T (p.Arg304Ser) c.591G>T (p.Arg197Ser) c.882G>T (p.Arg294Ser) c.756G>T (p.Arg252Ser) c.*256G>T (n.*256G>T) c.423G>T (p.Arg141Ser) c.774G>T (p.Arg258Ser) c.927G>T (p.Arg309Ser) c.879G>T (p.Arg293Ser) c.762G>T (p.Arg254Ser) c.744G>T (p.Arg248Ser) | |
3 | g.69951862C>A | CA353561615 | MITF | c.865C>A (p.Gln289Lys) c.862C>A (p.Gln288Lys) n.1087C>A c.838C>A (p.Gln280Lys) c.931C>A (p.Gln311Lys) c.610C>A (p.Gln204Lys) c.910C>A (p.Gln304Lys) c.913C>A (p.Gln305Lys) c.592C>A (p.Gln198Lys) c.883C>A (p.Gln295Lys) c.757C>A (p.Gln253Lys) c.*257C>A (n.*257C>A) c.424C>A (p.Gln142Lys) c.775C>A (p.Gln259Lys) c.928C>A (p.Gln310Lys) c.880C>A (p.Gln294Lys) c.763C>A (p.Gln255Lys) c.745C>A (p.Gln249Lys) | |
3 | g.69951862C= | CA1373443558 | MITF | c.865C= (p.Gln289=) c.862C= (p.Gln288=) n.1087C= c.838C= (p.Gln280=) c.931C= (p.Gln311=) c.610C= (p.Gln204=) c.910C= (p.Gln304=) c.913C= (p.Gln305=) c.592C= (p.Gln198=) c.883C= (p.Gln295=) c.757C= (p.Gln253=) c.*257C= (n.*257C=) c.424C= (p.Gln142=) c.775C= (p.Gln259=) c.928C= (p.Gln310=) c.880C= (p.Gln294=) c.763C= (p.Gln255=) c.745C= (p.Gln249=) | |
3 | g.69951862C>G | CA353561616 | MITF | c.865C>G (p.Gln289Glu) c.862C>G (p.Gln288Glu) n.1087C>G c.838C>G (p.Gln280Glu) c.931C>G (p.Gln311Glu) c.610C>G (p.Gln204Glu) c.910C>G (p.Gln304Glu) c.913C>G (p.Gln305Glu) c.592C>G (p.Gln198Glu) c.883C>G (p.Gln295Glu) c.757C>G (p.Gln253Glu) c.*257C>G (n.*257C>G) c.424C>G (p.Gln142Glu) c.775C>G (p.Gln259Glu) c.928C>G (p.Gln310Glu) c.880C>G (p.Gln294Glu) c.763C>G (p.Gln255Glu) c.745C>G (p.Gln249Glu) | |
3 | g.69951862C>T | CA353561617 | MITF | c.865C>T (p.Gln289Ter) c.862C>T (p.Gln288Ter) n.1087C>T c.838C>T (p.Gln280Ter) c.931C>T (p.Gln311Ter) c.610C>T (p.Gln204Ter) c.910C>T (p.Gln304Ter) c.913C>T (p.Gln305Ter) c.592C>T (p.Gln198Ter) c.883C>T (p.Gln295Ter) c.757C>T (p.Gln253Ter) c.*257C>T (n.*257C>T) c.424C>T (p.Gln142Ter) c.775C>T (p.Gln259Ter) c.928C>T (p.Gln310Ter) c.880C>T (p.Gln294Ter) c.763C>T (p.Gln255Ter) c.745C>T (p.Gln249Ter) | ClinVar dbSNP |
3 | g.69951863A>C | CA353561618 | MITF | c.866A>C (p.Gln289Pro) c.863A>C (p.Gln288Pro) n.1088A>C c.839A>C (p.Gln280Pro) c.932A>C (p.Gln311Pro) c.611A>C (p.Gln204Pro) c.911A>C (p.Gln304Pro) c.914A>C (p.Gln305Pro) c.593A>C (p.Gln198Pro) c.884A>C (p.Gln295Pro) c.758A>C (p.Gln253Pro) c.*258A>C (n.*258A>C) c.425A>C (p.Gln142Pro) c.776A>C (p.Gln259Pro) c.929A>C (p.Gln310Pro) c.881A>C (p.Gln294Pro) c.764A>C (p.Gln255Pro) c.746A>C (p.Gln249Pro) | |
3 | g.69951863A>G | CA353561619 | MITF | c.866A>G (p.Gln289Arg) c.863A>G (p.Gln288Arg) n.1088A>G c.839A>G (p.Gln280Arg) c.932A>G (p.Gln311Arg) c.611A>G (p.Gln204Arg) c.911A>G (p.Gln304Arg) c.914A>G (p.Gln305Arg) c.593A>G (p.Gln198Arg) c.884A>G (p.Gln295Arg) c.758A>G (p.Gln253Arg) c.*258A>G (n.*258A>G) c.425A>G (p.Gln142Arg) c.776A>G (p.Gln259Arg) c.929A>G (p.Gln310Arg) c.881A>G (p.Gln294Arg) c.764A>G (p.Gln255Arg) c.746A>G (p.Gln249Arg) | |
3 | g.69951863A>T | CA353561620 | MITF | c.866A>T (p.Gln289Leu) c.863A>T (p.Gln288Leu) n.1088A>T c.839A>T (p.Gln280Leu) c.932A>T (p.Gln311Leu) c.611A>T (p.Gln204Leu) c.911A>T (p.Gln304Leu) c.914A>T (p.Gln305Leu) c.593A>T (p.Gln198Leu) c.884A>T (p.Gln295Leu) c.758A>T (p.Gln253Leu) c.*258A>T (n.*258A>T) c.425A>T (p.Gln142Leu) c.776A>T (p.Gln259Leu) c.929A>T (p.Gln310Leu) c.881A>T (p.Gln294Leu) c.764A>T (p.Gln255Leu) c.746A>T (p.Gln249Leu) | |
3 | g.69951864G>A | CA434306287 | MITF | c.867G>A (p.Gln289=) c.864G>A (p.Gln288=) n.1089G>A c.840G>A (p.Gln280=) c.933G>A (p.Gln311=) c.612G>A (p.Gln204=) c.912G>A (p.Gln304=) c.915G>A (p.Gln305=) c.594G>A (p.Gln198=) c.885G>A (p.Gln295=) c.759G>A (p.Gln253=) c.*259G>A (n.*259G>A) c.426G>A (p.Gln142=) c.777G>A (p.Gln259=) c.930G>A (p.Gln310=) c.882G>A (p.Gln294=) c.765G>A (p.Gln255=) c.747G>A (p.Gln249=) | dbSNP |
3 | g.69951864G>C | CA353561621 | MITF | c.867G>C (p.Gln289His) c.864G>C (p.Gln288His) n.1089G>C c.840G>C (p.Gln280His) c.933G>C (p.Gln311His) c.612G>C (p.Gln204His) c.912G>C (p.Gln304His) c.915G>C (p.Gln305His) c.594G>C (p.Gln198His) c.885G>C (p.Gln295His) c.759G>C (p.Gln253His) c.*259G>C (n.*259G>C) c.426G>C (p.Gln142His) c.777G>C (p.Gln259His) c.930G>C (p.Gln310His) c.882G>C (p.Gln294His) c.765G>C (p.Gln255His) c.747G>C (p.Gln249His) | |
3 | g.69951864G>T | CA353561622 | MITF | c.867G>T (p.Gln289His) c.864G>T (p.Gln288His) n.1089G>T c.840G>T (p.Gln280His) c.933G>T (p.Gln311His) c.612G>T (p.Gln204His) c.912G>T (p.Gln304His) c.915G>T (p.Gln305His) c.594G>T (p.Gln198His) c.885G>T (p.Gln295His) c.759G>T (p.Gln253His) c.*259G>T (n.*259G>T) c.426G>T (p.Gln142His) c.777G>T (p.Gln259His) c.930G>T (p.Gln310His) c.882G>T (p.Gln294His) c.765G>T (p.Gln255His) c.747G>T (p.Gln249His) | |
3 | g.69951865A>C | CA353561623 | MITF | c.868A>C (p.Lys290Gln) c.865A>C (p.Lys289Gln) n.1090A>C c.841A>C (p.Lys281Gln) c.934A>C (p.Lys312Gln) c.613A>C (p.Lys205Gln) c.913A>C (p.Lys305Gln) c.916A>C (p.Lys306Gln) c.595A>C (p.Lys199Gln) c.886A>C (p.Lys296Gln) c.760A>C (p.Lys254Gln) c.*260A>C (n.*260A>C) c.427A>C (p.Lys143Gln) c.778A>C (p.Lys260Gln) c.931A>C (p.Lys311Gln) c.883A>C (p.Lys295Gln) c.766A>C (p.Lys256Gln) c.748A>C (p.Lys250Gln) | |
3 | g.69951865A>G | CA353561625 | MITF | c.868A>G (p.Lys290Glu) c.865A>G (p.Lys289Glu) n.1090A>G c.841A>G (p.Lys281Glu) c.934A>G (p.Lys312Glu) c.613A>G (p.Lys205Glu) c.913A>G (p.Lys305Glu) c.916A>G (p.Lys306Glu) c.595A>G (p.Lys199Glu) c.886A>G (p.Lys296Glu) c.760A>G (p.Lys254Glu) c.*260A>G (n.*260A>G) c.427A>G (p.Lys143Glu) c.778A>G (p.Lys260Glu) c.931A>G (p.Lys311Glu) c.883A>G (p.Lys295Glu) c.766A>G (p.Lys256Glu) c.748A>G (p.Lys250Glu) | |
3 | g.69951865A>T | CA353561624 | MITF | c.868A>T (p.Lys290Ter) c.865A>T (p.Lys289Ter) n.1090A>T c.841A>T (p.Lys281Ter) c.934A>T (p.Lys312Ter) c.613A>T (p.Lys205Ter) c.913A>T (p.Lys305Ter) c.916A>T (p.Lys306Ter) c.595A>T (p.Lys199Ter) c.886A>T (p.Lys296Ter) c.760A>T (p.Lys254Ter) c.*260A>T (n.*260A>T) c.427A>T (p.Lys143Ter) c.778A>T (p.Lys260Ter) c.931A>T (p.Lys311Ter) c.883A>T (p.Lys295Ter) c.766A>T (p.Lys256Ter) c.748A>T (p.Lys250Ter) | |
3 | g.69951869del | CA645533382 | MITF | c.872del (p.Lys291ArgfsTer6) c.869del (p.Lys290ArgfsTer6) n.1094del c.845del (p.Lys282ArgfsTer6) c.938del (p.Lys313ArgfsTer6) c.617del (p.Lys206ArgfsTer6) c.917del (p.Lys306ArgfsTer6) c.920del (p.Lys307ArgfsTer6) c.599del (p.Lys200ArgfsTer6) c.890del (p.Lys297ArgfsTer6) c.764del (p.Lys255ArgfsTer6) c.*264del (n.*264del) c.431del (p.Lys144ArgfsTer6) c.782del (p.Lys261ArgfsTer6) c.935del (p.Lys312ArgfsTer6) c.887del (p.Lys296ArgfsTer6) c.770del (p.Lys257ArgfsTer6) c.752del (p.Lys251ArgfsTer6) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
3 | g.69951868_69951869del | CA2586972643 | MITF | c.871_872del (p.Lys291GlyfsTer7) c.868_869del (p.Lys290GlyfsTer7) n.1093_1094del c.844_845del (p.Lys282GlyfsTer7) c.937_938del (p.Lys313GlyfsTer7) c.616_617del (p.Lys206GlyfsTer7) c.916_917del (p.Lys306GlyfsTer7) c.919_920del (p.Lys307GlyfsTer7) c.598_599del (p.Lys200GlyfsTer7) c.889_890del (p.Lys297GlyfsTer7) c.763_764del (p.Lys255GlyfsTer7) c.*263_*264del (n.*263_*264del) c.430_431del (p.Lys144GlyfsTer7) c.781_782del (p.Lys261GlyfsTer7) c.934_935del (p.Lys312GlyfsTer7) c.886_887del (p.Lys296GlyfsTer7) c.769_770del (p.Lys257GlyfsTer7) c.751_752del (p.Lys251GlyfsTer7) | |
3 | g.69951866A>C | CA353561626 | MITF | c.869A>C (p.Lys290Thr) c.866A>C (p.Lys289Thr) n.1091A>C c.842A>C (p.Lys281Thr) c.935A>C (p.Lys312Thr) c.614A>C (p.Lys205Thr) c.914A>C (p.Lys305Thr) c.917A>C (p.Lys306Thr) c.596A>C (p.Lys199Thr) c.887A>C (p.Lys296Thr) c.761A>C (p.Lys254Thr) c.*261A>C (n.*261A>C) c.428A>C (p.Lys143Thr) c.779A>C (p.Lys260Thr) c.932A>C (p.Lys311Thr) c.884A>C (p.Lys295Thr) c.767A>C (p.Lys256Thr) c.749A>C (p.Lys250Thr) | |
3 | g.69951866A>G | CA353561627 | MITF | c.869A>G (p.Lys290Arg) c.866A>G (p.Lys289Arg) n.1091A>G c.842A>G (p.Lys281Arg) c.935A>G (p.Lys312Arg) c.614A>G (p.Lys205Arg) c.914A>G (p.Lys305Arg) c.917A>G (p.Lys306Arg) c.596A>G (p.Lys199Arg) c.887A>G (p.Lys296Arg) c.761A>G (p.Lys254Arg) c.*261A>G (n.*261A>G) c.428A>G (p.Lys143Arg) c.779A>G (p.Lys260Arg) c.932A>G (p.Lys311Arg) c.884A>G (p.Lys295Arg) c.767A>G (p.Lys256Arg) c.749A>G (p.Lys250Arg) | |
3 | g.69951866A>T | CA353561628 | MITF | c.869A>T (p.Lys290Ile) c.866A>T (p.Lys289Ile) n.1091A>T c.842A>T (p.Lys281Ile) c.935A>T (p.Lys312Ile) c.614A>T (p.Lys205Ile) c.914A>T (p.Lys305Ile) c.917A>T (p.Lys306Ile) c.596A>T (p.Lys199Ile) c.887A>T (p.Lys296Ile) c.761A>T (p.Lys254Ile) c.*261A>T (n.*261A>T) c.428A>T (p.Lys143Ile) c.779A>T (p.Lys260Ile) c.932A>T (p.Lys311Ile) c.884A>T (p.Lys295Ile) c.767A>T (p.Lys256Ile) c.749A>T (p.Lys250Ile) | |
3 | g.69951867A>C | CA353561629 | MITF | c.870A>C (p.Lys290Asn) c.867A>C (p.Lys289Asn) n.1092A>C c.843A>C (p.Lys281Asn) c.936A>C (p.Lys312Asn) c.615A>C (p.Lys205Asn) c.915A>C (p.Lys305Asn) c.918A>C (p.Lys306Asn) c.597A>C (p.Lys199Asn) c.888A>C (p.Lys296Asn) c.762A>C (p.Lys254Asn) c.*262A>C (n.*262A>C) c.429A>C (p.Lys143Asn) c.780A>C (p.Lys260Asn) c.933A>C (p.Lys311Asn) c.885A>C (p.Lys295Asn) c.768A>C (p.Lys256Asn) c.750A>C (p.Lys250Asn) | |
3 | g.69951867A>G | CA434306288 | MITF | c.870A>G (p.Lys290=) c.867A>G (p.Lys289=) n.1092A>G c.843A>G (p.Lys281=) c.936A>G (p.Lys312=) c.615A>G (p.Lys205=) c.915A>G (p.Lys305=) c.918A>G (p.Lys306=) c.597A>G (p.Lys199=) c.888A>G (p.Lys296=) c.762A>G (p.Lys254=) c.*262A>G (n.*262A>G) c.429A>G (p.Lys143=) c.780A>G (p.Lys260=) c.933A>G (p.Lys311=) c.885A>G (p.Lys295=) c.768A>G (p.Lys256=) c.750A>G (p.Lys250=) | |
3 | g.69951867A>T | CA353561630 | MITF | c.870A>T (p.Lys290Asn) c.867A>T (p.Lys289Asn) n.1092A>T c.843A>T (p.Lys281Asn) c.936A>T (p.Lys312Asn) c.615A>T (p.Lys205Asn) c.915A>T (p.Lys305Asn) c.918A>T (p.Lys306Asn) c.597A>T (p.Lys199Asn) c.888A>T (p.Lys296Asn) c.762A>T (p.Lys254Asn) c.*262A>T (n.*262A>T) c.429A>T (p.Lys143Asn) c.780A>T (p.Lys260Asn) c.933A>T (p.Lys311Asn) c.885A>T (p.Lys295Asn) c.768A>T (p.Lys256Asn) c.750A>T (p.Lys250Asn) | |
3 | g.69951868A>C | CA353561631 | MITF | c.871A>C (p.Lys291Gln) c.868A>C (p.Lys290Gln) n.1093A>C c.844A>C (p.Lys282Gln) c.937A>C (p.Lys313Gln) c.616A>C (p.Lys206Gln) c.916A>C (p.Lys306Gln) c.919A>C (p.Lys307Gln) c.598A>C (p.Lys200Gln) c.889A>C (p.Lys297Gln) c.763A>C (p.Lys255Gln) c.*263A>C (n.*263A>C) c.430A>C (p.Lys144Gln) c.781A>C (p.Lys261Gln) c.934A>C (p.Lys312Gln) c.886A>C (p.Lys296Gln) c.769A>C (p.Lys257Gln) c.751A>C (p.Lys251Gln) | ClinVar |
3 | g.69951868A>G | CA353561632 | MITF | c.871A>G (p.Lys291Glu) c.868A>G (p.Lys290Glu) n.1093A>G c.844A>G (p.Lys282Glu) c.937A>G (p.Lys313Glu) c.616A>G (p.Lys206Glu) c.916A>G (p.Lys306Glu) c.919A>G (p.Lys307Glu) c.598A>G (p.Lys200Glu) c.889A>G (p.Lys297Glu) c.763A>G (p.Lys255Glu) c.*263A>G (n.*263A>G) c.430A>G (p.Lys144Glu) c.781A>G (p.Lys261Glu) c.934A>G (p.Lys312Glu) c.886A>G (p.Lys296Glu) c.769A>G (p.Lys257Glu) c.751A>G (p.Lys251Glu) | |
3 | g.69951868A>T | CA353561633 | MITF | c.871A>T (p.Lys291Ter) c.868A>T (p.Lys290Ter) n.1093A>T c.844A>T (p.Lys282Ter) c.937A>T (p.Lys313Ter) c.616A>T (p.Lys206Ter) c.916A>T (p.Lys306Ter) c.919A>T (p.Lys307Ter) c.598A>T (p.Lys200Ter) c.889A>T (p.Lys297Ter) c.763A>T (p.Lys255Ter) c.*263A>T (n.*263A>T) c.430A>T (p.Lys144Ter) c.781A>T (p.Lys261Ter) c.934A>T (p.Lys312Ter) c.886A>T (p.Lys296Ter) c.769A>T (p.Lys257Ter) c.751A>T (p.Lys251Ter) | |
3 | g.69951869A>C | CA353561634 | MITF | c.872A>C (p.Lys291Thr) c.869A>C (p.Lys290Thr) n.1094A>C c.845A>C (p.Lys282Thr) c.938A>C (p.Lys313Thr) c.617A>C (p.Lys206Thr) c.917A>C (p.Lys306Thr) c.920A>C (p.Lys307Thr) c.599A>C (p.Lys200Thr) c.890A>C (p.Lys297Thr) c.764A>C (p.Lys255Thr) c.*264A>C (n.*264A>C) c.431A>C (p.Lys144Thr) c.782A>C (p.Lys261Thr) c.935A>C (p.Lys312Thr) c.887A>C (p.Lys296Thr) c.770A>C (p.Lys257Thr) c.752A>C (p.Lys251Thr) | |
3 | g.69951869A>G | CA353561635 | MITF | c.872A>G (p.Lys291Arg) c.869A>G (p.Lys290Arg) n.1094A>G c.845A>G (p.Lys282Arg) c.938A>G (p.Lys313Arg) c.617A>G (p.Lys206Arg) c.917A>G (p.Lys306Arg) c.920A>G (p.Lys307Arg) c.599A>G (p.Lys200Arg) c.890A>G (p.Lys297Arg) c.764A>G (p.Lys255Arg) c.*264A>G (n.*264A>G) c.431A>G (p.Lys144Arg) c.782A>G (p.Lys261Arg) c.935A>G (p.Lys312Arg) c.887A>G (p.Lys296Arg) c.770A>G (p.Lys257Arg) c.752A>G (p.Lys251Arg) | dbSNP gnomAD v4 |
3 | g.69951869A>T | CA353561636 | MITF | c.872A>T (p.Lys291Met) c.869A>T (p.Lys290Met) n.1094A>T c.845A>T (p.Lys282Met) c.938A>T (p.Lys313Met) c.617A>T (p.Lys206Met) c.917A>T (p.Lys306Met) c.920A>T (p.Lys307Met) c.599A>T (p.Lys200Met) c.890A>T (p.Lys297Met) c.764A>T (p.Lys255Met) c.*264A>T (n.*264A>T) c.431A>T (p.Lys144Met) c.782A>T (p.Lys261Met) c.935A>T (p.Lys312Met) c.887A>T (p.Lys296Met) c.770A>T (p.Lys257Met) c.752A>T (p.Lys251Met) | COSMIC COSMIC COSMIC COSMIC |
3 | g.69951870G>A | CA434306289 | MITF | c.873G>A (p.Lys291=) c.870G>A (p.Lys290=) n.1095G>A c.846G>A (p.Lys282=) c.939G>A (p.Lys313=) c.618G>A (p.Lys206=) c.918G>A (p.Lys306=) c.921G>A (p.Lys307=) c.600G>A (p.Lys200=) c.891G>A (p.Lys297=) c.765G>A (p.Lys255=) c.*265G>A (n.*265G>A) c.432G>A (p.Lys144=) c.783G>A (p.Lys261=) c.936G>A (p.Lys312=) c.888G>A (p.Lys296=) c.771G>A (p.Lys257=) c.753G>A (p.Lys251=) | |
3 | g.69951870G>C | CA16044010 | MITF | c.873G>C (p.Lys291Asn) c.870G>C (p.Lys290Asn) n.1095G>C c.846G>C (p.Lys282Asn) c.939G>C (p.Lys313Asn) c.618G>C (p.Lys206Asn) c.918G>C (p.Lys306Asn) c.921G>C (p.Lys307Asn) c.600G>C (p.Lys200Asn) c.891G>C (p.Lys297Asn) c.765G>C (p.Lys255Asn) c.*265G>C (n.*265G>C) c.432G>C (p.Lys144Asn) c.783G>C (p.Lys261Asn) c.936G>C (p.Lys312Asn) c.888G>C (p.Lys296Asn) c.771G>C (p.Lys257Asn) c.753G>C (p.Lys251Asn) | ClinVar dbSNP |
3 | g.69951870G= | CA1373443565 | MITF | c.873G= (p.Lys291=) c.870G= (p.Lys290=) n.1095G= c.846G= (p.Lys282=) c.939G= (p.Lys313=) c.618G= (p.Lys206=) c.918G= (p.Lys306=) c.921G= (p.Lys307=) c.600G= (p.Lys200=) c.891G= (p.Lys297=) c.765G= (p.Lys255=) c.*265G= (n.*265G=) c.432G= (p.Lys144=) c.783G= (p.Lys261=) c.936G= (p.Lys312=) c.888G= (p.Lys296=) c.771G= (p.Lys257=) c.753G= (p.Lys251=) | |
3 | g.69951870G>T | CA353561637 | MITF | c.873G>T (p.Lys291Asn) c.870G>T (p.Lys290Asn) n.1095G>T c.846G>T (p.Lys282Asn) c.939G>T (p.Lys313Asn) c.618G>T (p.Lys206Asn) c.918G>T (p.Lys306Asn) c.921G>T (p.Lys307Asn) c.600G>T (p.Lys200Asn) c.891G>T (p.Lys297Asn) c.765G>T (p.Lys255Asn) c.*265G>T (n.*265G>T) c.432G>T (p.Lys144Asn) c.783G>T (p.Lys261Asn) c.936G>T (p.Lys312Asn) c.888G>T (p.Lys296Asn) c.771G>T (p.Lys257Asn) c.753G>T (p.Lys251Asn) | |
3 | g.69951871G>A | CA353561638 | MITF | c.874G>A (p.Asp292Asn) c.871G>A (p.Asp291Asn) n.1096G>A c.847G>A (p.Asp283Asn) c.940G>A (p.Asp314Asn) c.619G>A (p.Asp207Asn) c.919G>A (p.Asp307Asn) c.922G>A (p.Asp308Asn) c.601G>A (p.Asp201Asn) c.892G>A (p.Asp298Asn) c.766G>A (p.Asp256Asn) c.*266G>A (n.*266G>A) c.433G>A (p.Asp145Asn) c.784G>A (p.Asp262Asn) c.937G>A (p.Asp313Asn) c.889G>A (p.Asp297Asn) c.772G>A (p.Asp258Asn) c.754G>A (p.Asp252Asn) | gnomAD v4 |
3 | g.69951871G>C | CA353561640 | MITF | c.874G>C (p.Asp292His) c.871G>C (p.Asp291His) n.1096G>C c.847G>C (p.Asp283His) c.940G>C (p.Asp314His) c.619G>C (p.Asp207His) c.919G>C (p.Asp307His) c.922G>C (p.Asp308His) c.601G>C (p.Asp201His) c.892G>C (p.Asp298His) c.766G>C (p.Asp256His) c.*266G>C (n.*266G>C) c.433G>C (p.Asp145His) c.784G>C (p.Asp262His) c.937G>C (p.Asp313His) c.889G>C (p.Asp297His) c.772G>C (p.Asp258His) c.754G>C (p.Asp252His) | |
3 | g.69951871G>T | CA353561639 | MITF | c.874G>T (p.Asp292Tyr) c.871G>T (p.Asp291Tyr) n.1096G>T c.847G>T (p.Asp283Tyr) c.940G>T (p.Asp314Tyr) c.619G>T (p.Asp207Tyr) c.919G>T (p.Asp307Tyr) c.922G>T (p.Asp308Tyr) c.601G>T (p.Asp201Tyr) c.892G>T (p.Asp298Tyr) c.766G>T (p.Asp256Tyr) c.*266G>T (n.*266G>T) c.433G>T (p.Asp145Tyr) c.784G>T (p.Asp262Tyr) c.937G>T (p.Asp313Tyr) c.889G>T (p.Asp297Tyr) c.772G>T (p.Asp258Tyr) c.754G>T (p.Asp252Tyr) | |
3 | g.69951872A>C | CA353561641 | MITF | c.875A>C (p.Asp292Ala) c.872A>C (p.Asp291Ala) n.1097A>C c.848A>C (p.Asp283Ala) c.941A>C (p.Asp314Ala) c.620A>C (p.Asp207Ala) c.920A>C (p.Asp307Ala) c.923A>C (p.Asp308Ala) c.602A>C (p.Asp201Ala) c.893A>C (p.Asp298Ala) c.767A>C (p.Asp256Ala) c.*267A>C (n.*267A>C) c.434A>C (p.Asp145Ala) c.785A>C (p.Asp262Ala) c.938A>C (p.Asp313Ala) c.890A>C (p.Asp297Ala) c.773A>C (p.Asp258Ala) c.755A>C (p.Asp252Ala) | |
3 | g.69951872A>G | CA353561642 | MITF | c.875A>G (p.Asp292Gly) c.872A>G (p.Asp291Gly) n.1097A>G c.848A>G (p.Asp283Gly) c.941A>G (p.Asp314Gly) c.620A>G (p.Asp207Gly) c.920A>G (p.Asp307Gly) c.923A>G (p.Asp308Gly) c.602A>G (p.Asp201Gly) c.893A>G (p.Asp298Gly) c.767A>G (p.Asp256Gly) c.*267A>G (n.*267A>G) c.434A>G (p.Asp145Gly) c.785A>G (p.Asp262Gly) c.938A>G (p.Asp313Gly) c.890A>G (p.Asp297Gly) c.773A>G (p.Asp258Gly) c.755A>G (p.Asp252Gly) | |
3 | g.69951872A>T | CA353561643 | MITF | c.875A>T (p.Asp292Val) c.872A>T (p.Asp291Val) n.1097A>T c.848A>T (p.Asp283Val) c.941A>T (p.Asp314Val) c.620A>T (p.Asp207Val) c.920A>T (p.Asp307Val) c.923A>T (p.Asp308Val) c.602A>T (p.Asp201Val) c.893A>T (p.Asp298Val) c.767A>T (p.Asp256Val) c.*267A>T (n.*267A>T) c.434A>T (p.Asp145Val) c.785A>T (p.Asp262Val) c.938A>T (p.Asp313Val) c.890A>T (p.Asp297Val) c.773A>T (p.Asp258Val) c.755A>T (p.Asp252Val) | |
3 | g.69951873C>A | CA353561644 | MITF | c.876C>A (p.Asp292Glu) c.873C>A (p.Asp291Glu) n.1098C>A c.849C>A (p.Asp283Glu) c.942C>A (p.Asp314Glu) c.621C>A (p.Asp207Glu) c.921C>A (p.Asp307Glu) c.924C>A (p.Asp308Glu) c.603C>A (p.Asp201Glu) c.894C>A (p.Asp298Glu) c.768C>A (p.Asp256Glu) c.*268C>A (n.*268C>A) c.435C>A (p.Asp145Glu) c.786C>A (p.Asp262Glu) c.939C>A (p.Asp313Glu) c.891C>A (p.Asp297Glu) c.774C>A (p.Asp258Glu) c.756C>A (p.Asp252Glu) | |
3 | g.69951873C>G | CA353561645 | MITF | c.876C>G (p.Asp292Glu) c.873C>G (p.Asp291Glu) n.1098C>G c.849C>G (p.Asp283Glu) c.942C>G (p.Asp314Glu) c.621C>G (p.Asp207Glu) c.921C>G (p.Asp307Glu) c.924C>G (p.Asp308Glu) c.603C>G (p.Asp201Glu) c.894C>G (p.Asp298Glu) c.768C>G (p.Asp256Glu) c.*268C>G (n.*268C>G) c.435C>G (p.Asp145Glu) c.786C>G (p.Asp262Glu) c.939C>G (p.Asp313Glu) c.891C>G (p.Asp297Glu) c.774C>G (p.Asp258Glu) c.756C>G (p.Asp252Glu) | |
3 | g.69951873C>T | CA434306290 | MITF | c.876C>T (p.Asp292=) c.873C>T (p.Asp291=) n.1098C>T c.849C>T (p.Asp283=) c.942C>T (p.Asp314=) c.621C>T (p.Asp207=) c.921C>T (p.Asp307=) c.924C>T (p.Asp308=) c.603C>T (p.Asp201=) c.894C>T (p.Asp298=) c.768C>T (p.Asp256=) c.*268C>T (n.*268C>T) c.435C>T (p.Asp145=) c.786C>T (p.Asp262=) c.939C>T (p.Asp313=) c.891C>T (p.Asp297=) c.774C>T (p.Asp258=) c.756C>T (p.Asp252=) | |
3 | g.69951874A>C | CA353561646 | MITF | c.877A>C (p.Asn293His) c.874A>C (p.Asn292His) n.1099A>C c.850A>C (p.Asn284His) c.943A>C (p.Asn315His) c.622A>C (p.Asn208His) c.922A>C (p.Asn308His) c.925A>C (p.Asn309His) c.604A>C (p.Asn202His) c.895A>C (p.Asn299His) c.769A>C (p.Asn257His) c.*269A>C (n.*269A>C) c.436A>C (p.Asn146His) c.787A>C (p.Asn263His) c.940A>C (p.Asn314His) c.892A>C (p.Asn298His) c.775A>C (p.Asn259His) c.757A>C (p.Asn253His) | |
3 | g.69951874A>G | CA353561647 | MITF | c.877A>G (p.Asn293Asp) c.874A>G (p.Asn292Asp) n.1099A>G c.850A>G (p.Asn284Asp) c.943A>G (p.Asn315Asp) c.622A>G (p.Asn208Asp) c.922A>G (p.Asn308Asp) c.925A>G (p.Asn309Asp) c.604A>G (p.Asn202Asp) c.895A>G (p.Asn299Asp) c.769A>G (p.Asn257Asp) c.*269A>G (n.*269A>G) c.436A>G (p.Asn146Asp) c.787A>G (p.Asn263Asp) c.940A>G (p.Asn314Asp) c.892A>G (p.Asn298Asp) c.775A>G (p.Asn259Asp) c.757A>G (p.Asn253Asp) | |
3 | g.69951874A>T | CA353561648 | MITF | c.877A>T (p.Asn293Tyr) c.874A>T (p.Asn292Tyr) n.1099A>T c.850A>T (p.Asn284Tyr) c.943A>T (p.Asn315Tyr) c.622A>T (p.Asn208Tyr) c.922A>T (p.Asn308Tyr) c.925A>T (p.Asn309Tyr) c.604A>T (p.Asn202Tyr) c.895A>T (p.Asn299Tyr) c.769A>T (p.Asn257Tyr) c.*269A>T (n.*269A>T) c.436A>T (p.Asn146Tyr) c.787A>T (p.Asn263Tyr) c.940A>T (p.Asn314Tyr) c.892A>T (p.Asn298Tyr) c.775A>T (p.Asn259Tyr) c.757A>T (p.Asn253Tyr) | |
3 | g.69951875A= | CA1373443568 | MITF | c.878A= (p.Asn293=) c.875A= (p.Asn292=) n.1100A= c.851A= (p.Asn284=) c.944A= (p.Asn315=) c.623A= (p.Asn208=) c.923A= (p.Asn308=) c.926A= (p.Asn309=) c.605A= (p.Asn202=) c.896A= (p.Asn299=) c.770A= (p.Asn257=) c.*270A= (n.*270A=) c.437A= (p.Asn146=) c.788A= (p.Asn263=) c.941A= (p.Asn314=) c.893A= (p.Asn298=) c.776A= (p.Asn259=) c.758A= (p.Asn253=) | |
3 | g.69951875A>C | CA353561649 | MITF | c.878A>C (p.Asn293Thr) c.875A>C (p.Asn292Thr) n.1100A>C c.851A>C (p.Asn284Thr) c.944A>C (p.Asn315Thr) c.623A>C (p.Asn208Thr) c.923A>C (p.Asn308Thr) c.926A>C (p.Asn309Thr) c.605A>C (p.Asn202Thr) c.896A>C (p.Asn299Thr) c.770A>C (p.Asn257Thr) c.*270A>C (n.*270A>C) c.437A>C (p.Asn146Thr) c.788A>C (p.Asn263Thr) c.941A>C (p.Asn314Thr) c.893A>C (p.Asn298Thr) c.776A>C (p.Asn259Thr) c.758A>C (p.Asn253Thr) | |
3 | g.69951875A>G | CA353561650 | MITF | c.878A>G (p.Asn293Ser) c.875A>G (p.Asn292Ser) n.1100A>G c.851A>G (p.Asn284Ser) c.944A>G (p.Asn315Ser) c.623A>G (p.Asn208Ser) c.923A>G (p.Asn308Ser) c.926A>G (p.Asn309Ser) c.605A>G (p.Asn202Ser) c.896A>G (p.Asn299Ser) c.770A>G (p.Asn257Ser) c.*270A>G (n.*270A>G) c.437A>G (p.Asn146Ser) c.788A>G (p.Asn263Ser) c.941A>G (p.Asn314Ser) c.893A>G (p.Asn298Ser) c.776A>G (p.Asn259Ser) c.758A>G (p.Asn253Ser) | dbSNP gnomAD v4 |
3 | g.69951875A>T | CA353561651 | MITF | c.878A>T (p.Asn293Ile) c.875A>T (p.Asn292Ile) n.1100A>T c.851A>T (p.Asn284Ile) c.944A>T (p.Asn315Ile) c.623A>T (p.Asn208Ile) c.923A>T (p.Asn308Ile) c.926A>T (p.Asn309Ile) c.605A>T (p.Asn202Ile) c.896A>T (p.Asn299Ile) c.770A>T (p.Asn257Ile) c.*270A>T (n.*270A>T) c.437A>T (p.Asn146Ile) c.788A>T (p.Asn263Ile) c.941A>T (p.Asn314Ile) c.893A>T (p.Asn298Ile) c.776A>T (p.Asn259Ile) c.758A>T (p.Asn253Ile) | |
3 | g.69951876T>A | CA353561653 | MITF | c.879T>A (p.Asn293Lys) c.876T>A (p.Asn292Lys) n.1101T>A c.852T>A (p.Asn284Lys) c.945T>A (p.Asn315Lys) c.624T>A (p.Asn208Lys) c.924T>A (p.Asn308Lys) c.927T>A (p.Asn309Lys) c.606T>A (p.Asn202Lys) c.897T>A (p.Asn299Lys) c.771T>A (p.Asn257Lys) c.*271T>A (n.*271T>A) c.438T>A (p.Asn146Lys) c.789T>A (p.Asn263Lys) c.942T>A (p.Asn314Lys) c.894T>A (p.Asn298Lys) c.777T>A (p.Asn259Lys) c.759T>A (p.Asn253Lys) | gnomAD v4 |
3 | g.69951876T>C | CA434306298 | MITF | c.879T>C (p.Asn293=) c.876T>C (p.Asn292=) n.1101T>C c.852T>C (p.Asn284=) c.945T>C (p.Asn315=) c.624T>C (p.Asn208=) c.924T>C (p.Asn308=) c.927T>C (p.Asn309=) c.606T>C (p.Asn202=) c.897T>C (p.Asn299=) c.771T>C (p.Asn257=) c.*271T>C (n.*271T>C) c.438T>C (p.Asn146=) c.789T>C (p.Asn263=) c.942T>C (p.Asn314=) c.894T>C (p.Asn298=) c.777T>C (p.Asn259=) c.759T>C (p.Asn253=) | gnomAD v4 |
3 | g.69951876T>G | CA353561652 | MITF | c.879T>G (p.Asn293Lys) c.876T>G (p.Asn292Lys) n.1101T>G c.852T>G (p.Asn284Lys) c.945T>G (p.Asn315Lys) c.624T>G (p.Asn208Lys) c.924T>G (p.Asn308Lys) c.927T>G (p.Asn309Lys) c.606T>G (p.Asn202Lys) c.897T>G (p.Asn299Lys) c.771T>G (p.Asn257Lys) c.*271T>G (n.*271T>G) c.438T>G (p.Asn146Lys) c.789T>G (p.Asn263Lys) c.942T>G (p.Asn314Lys) c.894T>G (p.Asn298Lys) c.777T>G (p.Asn259Lys) c.759T>G (p.Asn253Lys) | |
3 | g.69951877C>A | CA353561654 | MITF | c.880C>A (p.His294Asn) c.877C>A (p.His293Asn) n.1102C>A c.853C>A (p.His285Asn) c.946C>A (p.His316Asn) c.625C>A (p.His209Asn) c.925C>A (p.His309Asn) c.928C>A (p.His310Asn) c.607C>A (p.His203Asn) c.898C>A (p.His300Asn) c.772C>A (p.His258Asn) c.*272C>A (n.*272C>A) c.439C>A (p.His147Asn) c.790C>A (p.His264Asn) c.943C>A (p.His315Asn) c.895C>A (p.His299Asn) c.778C>A (p.His260Asn) c.760C>A (p.His254Asn) | gnomAD v4 |
3 | g.69951877C>G | CA353561656 | MITF | c.880C>G (p.His294Asp) c.877C>G (p.His293Asp) n.1102C>G c.853C>G (p.His285Asp) c.946C>G (p.His316Asp) c.625C>G (p.His209Asp) c.925C>G (p.His309Asp) c.928C>G (p.His310Asp) c.607C>G (p.His203Asp) c.898C>G (p.His300Asp) c.772C>G (p.His258Asp) c.*272C>G (n.*272C>G) c.439C>G (p.His147Asp) c.790C>G (p.His264Asp) c.943C>G (p.His315Asp) c.895C>G (p.His299Asp) c.778C>G (p.His260Asp) c.760C>G (p.His254Asp) | |
3 | g.69951877C>T | CA353561655 | MITF | c.880C>T (p.His294Tyr) c.877C>T (p.His293Tyr) n.1102C>T c.853C>T (p.His285Tyr) c.946C>T (p.His316Tyr) c.625C>T (p.His209Tyr) c.925C>T (p.His309Tyr) c.928C>T (p.His310Tyr) c.607C>T (p.His203Tyr) c.898C>T (p.His300Tyr) c.772C>T (p.His258Tyr) c.*272C>T (n.*272C>T) c.439C>T (p.His147Tyr) c.790C>T (p.His264Tyr) c.943C>T (p.His315Tyr) c.895C>T (p.His299Tyr) c.778C>T (p.His260Tyr) c.760C>T (p.His254Tyr) | |
3 | g.69951878A= | CA1373443575 | MITF | c.881A= (p.His294=) c.878A= (p.His293=) n.1103A= c.854A= (p.His285=) c.947A= (p.His316=) c.626A= (p.His209=) c.926A= (p.His309=) c.929A= (p.His310=) c.608A= (p.His203=) c.899A= (p.His300=) c.773A= (p.His258=) c.*273A= (n.*273A=) c.440A= (p.His147=) c.791A= (p.His264=) c.944A= (p.His315=) c.896A= (p.His299=) c.779A= (p.His260=) c.761A= (p.His254=) | |
3 | g.69951878A>C | CA353561657 | MITF | c.881A>C (p.His294Pro) c.878A>C (p.His293Pro) n.1103A>C c.854A>C (p.His285Pro) c.947A>C (p.His316Pro) c.626A>C (p.His209Pro) c.926A>C (p.His309Pro) c.929A>C (p.His310Pro) c.608A>C (p.His203Pro) c.899A>C (p.His300Pro) c.773A>C (p.His258Pro) c.*273A>C (n.*273A>C) c.440A>C (p.His147Pro) c.791A>C (p.His264Pro) c.944A>C (p.His315Pro) c.896A>C (p.His299Pro) c.779A>C (p.His260Pro) c.761A>C (p.His254Pro) | |
3 | g.69951878A>G | CA353561659 | MITF | c.881A>G (p.His294Arg) c.878A>G (p.His293Arg) n.1103A>G c.854A>G (p.His285Arg) c.947A>G (p.His316Arg) c.626A>G (p.His209Arg) c.926A>G (p.His309Arg) c.929A>G (p.His310Arg) c.608A>G (p.His203Arg) c.899A>G (p.His300Arg) c.773A>G (p.His258Arg) c.*273A>G (n.*273A>G) c.440A>G (p.His147Arg) c.791A>G (p.His264Arg) c.944A>G (p.His315Arg) c.896A>G (p.His299Arg) c.779A>G (p.His260Arg) c.761A>G (p.His254Arg) | ClinVar dbSNP |
3 | g.69951878A>T | CA353561658 | MITF | c.881A>T (p.His294Leu) c.878A>T (p.His293Leu) n.1103A>T c.854A>T (p.His285Leu) c.947A>T (p.His316Leu) c.626A>T (p.His209Leu) c.926A>T (p.His309Leu) c.929A>T (p.His310Leu) c.608A>T (p.His203Leu) c.899A>T (p.His300Leu) c.773A>T (p.His258Leu) c.*273A>T (n.*273A>T) c.440A>T (p.His147Leu) c.791A>T (p.His264Leu) c.944A>T (p.His315Leu) c.896A>T (p.His299Leu) c.779A>T (p.His260Leu) c.761A>T (p.His254Leu) | |
3 | g.69951879C>A | CA353561660 | MITF | c.882C>A (p.His294Gln) c.879C>A (p.His293Gln) n.1104C>A c.855C>A (p.His285Gln) c.948C>A (p.His316Gln) c.627C>A (p.His209Gln) c.927C>A (p.His309Gln) c.930C>A (p.His310Gln) c.609C>A (p.His203Gln) c.900C>A (p.His300Gln) c.774C>A (p.His258Gln) c.*274C>A (n.*274C>A) c.441C>A (p.His147Gln) c.792C>A (p.His264Gln) c.945C>A (p.His315Gln) c.897C>A (p.His299Gln) c.780C>A (p.His260Gln) c.762C>A (p.His254Gln) | |
3 | g.69951879C>G | CA353561661 | MITF | c.882C>G (p.His294Gln) c.879C>G (p.His293Gln) n.1104C>G c.855C>G (p.His285Gln) c.948C>G (p.His316Gln) c.627C>G (p.His209Gln) c.927C>G (p.His309Gln) c.930C>G (p.His310Gln) c.609C>G (p.His203Gln) c.900C>G (p.His300Gln) c.774C>G (p.His258Gln) c.*274C>G (n.*274C>G) c.441C>G (p.His147Gln) c.792C>G (p.His264Gln) c.945C>G (p.His315Gln) c.897C>G (p.His299Gln) c.780C>G (p.His260Gln) c.762C>G (p.His254Gln) | ClinVar |
3 | g.69951879C>T | CA434306299 | MITF | c.882C>T (p.His294=) c.879C>T (p.His293=) n.1104C>T c.855C>T (p.His285=) c.948C>T (p.His316=) c.627C>T (p.His209=) c.927C>T (p.His309=) c.930C>T (p.His310=) c.609C>T (p.His203=) c.900C>T (p.His300=) c.774C>T (p.His258=) c.*274C>T (n.*274C>T) c.441C>T (p.His147=) c.792C>T (p.His264=) c.945C>T (p.His315=) c.897C>T (p.His299=) c.780C>T (p.His260=) c.762C>T (p.His254=) | |
3 | g.69951880A>C | CA353561662 | MITF | c.883A>C (p.Asn295His) c.880A>C (p.Asn294His) n.1105A>C c.856A>C (p.Asn286His) c.949A>C (p.Asn317His) c.628A>C (p.Asn210His) c.928A>C (p.Asn310His) c.931A>C (p.Asn311His) c.610A>C (p.Asn204His) c.901A>C (p.Asn301His) c.775A>C (p.Asn259His) c.*275A>C (n.*275A>C) c.442A>C (p.Asn148His) c.793A>C (p.Asn265His) c.946A>C (p.Asn316His) c.898A>C (p.Asn300His) c.781A>C (p.Asn261His) c.763A>C (p.Asn255His) | |
3 | g.69951880A>G | CA353561663 | MITF | c.883A>G (p.Asn295Asp) c.880A>G (p.Asn294Asp) n.1105A>G c.856A>G (p.Asn286Asp) c.949A>G (p.Asn317Asp) c.628A>G (p.Asn210Asp) c.928A>G (p.Asn310Asp) c.931A>G (p.Asn311Asp) c.610A>G (p.Asn204Asp) c.901A>G (p.Asn301Asp) c.775A>G (p.Asn259Asp) c.*275A>G (n.*275A>G) c.442A>G (p.Asn148Asp) c.793A>G (p.Asn265Asp) c.946A>G (p.Asn316Asp) c.898A>G (p.Asn300Asp) c.781A>G (p.Asn261Asp) c.763A>G (p.Asn255Asp) | |
3 | g.69951880A>T | CA353561664 | MITF | c.883A>T (p.Asn295Tyr) c.880A>T (p.Asn294Tyr) n.1105A>T c.856A>T (p.Asn286Tyr) c.949A>T (p.Asn317Tyr) c.628A>T (p.Asn210Tyr) c.928A>T (p.Asn310Tyr) c.931A>T (p.Asn311Tyr) c.610A>T (p.Asn204Tyr) c.901A>T (p.Asn301Tyr) c.775A>T (p.Asn259Tyr) c.*275A>T (n.*275A>T) c.442A>T (p.Asn148Tyr) c.793A>T (p.Asn265Tyr) c.946A>T (p.Asn316Tyr) c.898A>T (p.Asn300Tyr) c.781A>T (p.Asn261Tyr) c.763A>T (p.Asn255Tyr) | |
3 | g.69951881A= | CA1373443578 | MITF | c.884A= (p.Asn295=) c.881A= (p.Asn294=) n.1106A= c.857A= (p.Asn286=) c.950A= (p.Asn317=) c.629A= (p.Asn210=) c.929A= (p.Asn310=) c.932A= (p.Asn311=) c.611A= (p.Asn204=) c.902A= (p.Asn301=) c.776A= (p.Asn259=) c.*276A= (n.*276A=) c.443A= (p.Asn148=) c.794A= (p.Asn265=) c.947A= (p.Asn316=) c.899A= (p.Asn300=) c.782A= (p.Asn261=) c.764A= (p.Asn255=) | |
3 | g.69951881A>C | CA353561665 | MITF | c.884A>C (p.Asn295Thr) c.881A>C (p.Asn294Thr) n.1106A>C c.857A>C (p.Asn286Thr) c.950A>C (p.Asn317Thr) c.629A>C (p.Asn210Thr) c.929A>C (p.Asn310Thr) c.932A>C (p.Asn311Thr) c.611A>C (p.Asn204Thr) c.902A>C (p.Asn301Thr) c.776A>C (p.Asn259Thr) c.*276A>C (n.*276A>C) c.443A>C (p.Asn148Thr) c.794A>C (p.Asn265Thr) c.947A>C (p.Asn316Thr) c.899A>C (p.Asn300Thr) c.782A>C (p.Asn261Thr) c.764A>C (p.Asn255Thr) | |
3 | g.69951881A>G | CA353561666 | MITF | c.884A>G (p.Asn295Ser) c.881A>G (p.Asn294Ser) n.1106A>G c.857A>G (p.Asn286Ser) c.950A>G (p.Asn317Ser) c.629A>G (p.Asn210Ser) c.929A>G (p.Asn310Ser) c.932A>G (p.Asn311Ser) c.611A>G (p.Asn204Ser) c.902A>G (p.Asn301Ser) c.776A>G (p.Asn259Ser) c.*276A>G (n.*276A>G) c.443A>G (p.Asn148Ser) c.794A>G (p.Asn265Ser) c.947A>G (p.Asn316Ser) c.899A>G (p.Asn300Ser) c.782A>G (p.Asn261Ser) c.764A>G (p.Asn255Ser) | ClinVar dbSNP |
3 | g.69951881A>T | CA353561667 | MITF | c.884A>T (p.Asn295Ile) c.881A>T (p.Asn294Ile) n.1106A>T c.857A>T (p.Asn286Ile) c.950A>T (p.Asn317Ile) c.629A>T (p.Asn210Ile) c.929A>T (p.Asn310Ile) c.932A>T (p.Asn311Ile) c.611A>T (p.Asn204Ile) c.902A>T (p.Asn301Ile) c.776A>T (p.Asn259Ile) c.*276A>T (n.*276A>T) c.443A>T (p.Asn148Ile) c.794A>T (p.Asn265Ile) c.947A>T (p.Asn316Ile) c.899A>T (p.Asn300Ile) c.782A>T (p.Asn261Ile) c.764A>T (p.Asn255Ile) | |
3 | g.69951882C>A | CA353561668 | MITF | c.885C>A (p.Asn295Lys) c.882C>A (p.Asn294Lys) n.1107C>A c.858C>A (p.Asn286Lys) c.951C>A (p.Asn317Lys) c.630C>A (p.Asn210Lys) c.930C>A (p.Asn310Lys) c.933C>A (p.Asn311Lys) c.612C>A (p.Asn204Lys) c.903C>A (p.Asn301Lys) c.777C>A (p.Asn259Lys) c.*277C>A (n.*277C>A) c.444C>A (p.Asn148Lys) c.795C>A (p.Asn265Lys) c.948C>A (p.Asn316Lys) c.900C>A (p.Asn300Lys) c.783C>A (p.Asn261Lys) c.765C>A (p.Asn255Lys) | gnomAD v4 |
3 | g.69951882C= | CA1373443584 | MITF | c.885C= (p.Asn295=) c.882C= (p.Asn294=) n.1107C= c.858C= (p.Asn286=) c.951C= (p.Asn317=) c.630C= (p.Asn210=) c.930C= (p.Asn310=) c.933C= (p.Asn311=) c.612C= (p.Asn204=) c.903C= (p.Asn301=) c.777C= (p.Asn259=) c.*277C= (n.*277C=) c.444C= (p.Asn148=) c.795C= (p.Asn265=) c.948C= (p.Asn316=) c.900C= (p.Asn300=) c.783C= (p.Asn261=) c.765C= (p.Asn255=) | |
3 | g.69951882C>G | CA213179 | MITF | c.885C>G (p.Asn295Lys) c.882C>G (p.Asn294Lys) n.1107C>G c.858C>G (p.Asn286Lys) c.951C>G (p.Asn317Lys) c.630C>G (p.Asn210Lys) c.930C>G (p.Asn310Lys) c.933C>G (p.Asn311Lys) c.612C>G (p.Asn204Lys) c.903C>G (p.Asn301Lys) c.777C>G (p.Asn259Lys) c.*277C>G (n.*277C>G) c.444C>G (p.Asn148Lys) c.795C>G (p.Asn265Lys) c.948C>G (p.Asn316Lys) c.900C>G (p.Asn300Lys) c.783C>G (p.Asn261Lys) c.765C>G (p.Asn255Lys) | ClinVar dbSNP |
3 | g.69951882C>T | CA434306300 | MITF | c.885C>T (p.Asn295=) c.882C>T (p.Asn294=) n.1107C>T c.858C>T (p.Asn286=) c.951C>T (p.Asn317=) c.630C>T (p.Asn210=) c.930C>T (p.Asn310=) c.933C>T (p.Asn311=) c.612C>T (p.Asn204=) c.903C>T (p.Asn301=) c.777C>T (p.Asn259=) c.*277C>T (n.*277C>T) c.444C>T (p.Asn148=) c.795C>T (p.Asn265=) c.948C>T (p.Asn316=) c.900C>T (p.Asn300=) c.783C>T (p.Asn261=) c.765C>T (p.Asn255=) | dbSNP |
3 | g.69951883C>A | CA353561669 | MITF | c.886C>A (p.Leu296Met) c.883C>A (p.Leu295Met) n.1108C>A c.859C>A (p.Leu287Met) c.952C>A (p.Leu318Met) c.631C>A (p.Leu211Met) c.931C>A (p.Leu311Met) c.934C>A (p.Leu312Met) c.613C>A (p.Leu205Met) c.904C>A (p.Leu302Met) c.778C>A (p.Leu260Met) c.*278C>A (n.*278C>A) c.445C>A (p.Leu149Met) c.796C>A (p.Leu266Met) c.949C>A (p.Leu317Met) c.901C>A (p.Leu301Met) c.784C>A (p.Leu262Met) c.766C>A (p.Leu256Met) | |
3 | g.69951883C>G | CA353561670 | MITF | c.886C>G (p.Leu296Val) c.883C>G (p.Leu295Val) n.1108C>G c.859C>G (p.Leu287Val) c.952C>G (p.Leu318Val) c.631C>G (p.Leu211Val) c.931C>G (p.Leu311Val) c.934C>G (p.Leu312Val) c.613C>G (p.Leu205Val) c.904C>G (p.Leu302Val) c.778C>G (p.Leu260Val) c.*278C>G (n.*278C>G) c.445C>G (p.Leu149Val) c.796C>G (p.Leu266Val) c.949C>G (p.Leu317Val) c.901C>G (p.Leu301Val) c.784C>G (p.Leu262Val) c.766C>G (p.Leu256Val) | |
3 | g.69951883C>T | CA434306301 | MITF | c.886C>T (p.Leu296=) c.883C>T (p.Leu295=) n.1108C>T c.859C>T (p.Leu287=) c.952C>T (p.Leu318=) c.631C>T (p.Leu211=) c.931C>T (p.Leu311=) c.934C>T (p.Leu312=) c.613C>T (p.Leu205=) c.904C>T (p.Leu302=) c.778C>T (p.Leu260=) c.*278C>T (n.*278C>T) c.445C>T (p.Leu149=) c.796C>T (p.Leu266=) c.949C>T (p.Leu317=) c.901C>T (p.Leu301=) c.784C>T (p.Leu262=) c.766C>T (p.Leu256=) | |
3 | g.69951884T>A | CA353561673 | MITF | c.887T>A (p.Leu296Gln) c.884T>A (p.Leu295Gln) n.1109T>A c.860T>A (p.Leu287Gln) c.953T>A (p.Leu318Gln) c.632T>A (p.Leu211Gln) c.932T>A (p.Leu311Gln) c.935T>A (p.Leu312Gln) c.614T>A (p.Leu205Gln) c.905T>A (p.Leu302Gln) c.779T>A (p.Leu260Gln) c.*279T>A (n.*279T>A) c.446T>A (p.Leu149Gln) c.797T>A (p.Leu266Gln) c.950T>A (p.Leu317Gln) c.902T>A (p.Leu301Gln) c.785T>A (p.Leu262Gln) c.767T>A (p.Leu256Gln) | |
3 | g.69951884T>C | CA353561671 | MITF | c.887T>C (p.Leu296Pro) c.884T>C (p.Leu295Pro) n.1109T>C c.860T>C (p.Leu287Pro) c.953T>C (p.Leu318Pro) c.632T>C (p.Leu211Pro) c.932T>C (p.Leu311Pro) c.935T>C (p.Leu312Pro) c.614T>C (p.Leu205Pro) c.905T>C (p.Leu302Pro) c.779T>C (p.Leu260Pro) c.*279T>C (n.*279T>C) c.446T>C (p.Leu149Pro) c.797T>C (p.Leu266Pro) c.950T>C (p.Leu317Pro) c.902T>C (p.Leu301Pro) c.785T>C (p.Leu262Pro) c.767T>C (p.Leu256Pro) | ClinVar dbSNP |
3 | g.69951884T>G | CA353561672 | MITF | c.887T>G (p.Leu296Arg) c.884T>G (p.Leu295Arg) n.1109T>G c.860T>G (p.Leu287Arg) c.953T>G (p.Leu318Arg) c.632T>G (p.Leu211Arg) c.932T>G (p.Leu311Arg) c.935T>G (p.Leu312Arg) c.614T>G (p.Leu205Arg) c.905T>G (p.Leu302Arg) c.779T>G (p.Leu260Arg) c.*279T>G (n.*279T>G) c.446T>G (p.Leu149Arg) c.797T>G (p.Leu266Arg) c.950T>G (p.Leu317Arg) c.902T>G (p.Leu301Arg) c.785T>G (p.Leu262Arg) c.767T>G (p.Leu256Arg) | |
3 | g.69951884T= | CA1373443590 | MITF | c.887T= (p.Leu296=) c.884T= (p.Leu295=) n.1109T= c.860T= (p.Leu287=) c.953T= (p.Leu318=) c.632T= (p.Leu211=) c.932T= (p.Leu311=) c.935T= (p.Leu312=) c.614T= (p.Leu205=) c.905T= (p.Leu302=) c.779T= (p.Leu260=) c.*279T= (n.*279T=) c.446T= (p.Leu149=) c.797T= (p.Leu266=) c.950T= (p.Leu317=) c.902T= (p.Leu301=) c.785T= (p.Leu262=) c.767T= (p.Leu256=) | |
3 | g.69951884_69951889del | CA2580070406 | MITF | c.887_889+3del c.884_886+3del n.1109_1111+3del c.860_862+3del c.953_955+3del c.632_634+3del c.932_934+3del c.935_937+3del c.614_616+3del c.905_907+3del c.779_781+3del c.*279_*281+3del c.446_448+3del c.797_799+3del c.950_952+3del c.902_904+3del c.785_787+3del c.767_769+3del | ClinVar |
3 | g.69951885G>A | CA434306303 | MITF | c.888G>A (p.Leu296=) c.885G>A (p.Leu295=) n.1110G>A c.861G>A (p.Leu287=) c.954G>A (p.Leu318=) c.633G>A (p.Leu211=) c.933G>A (p.Leu311=) c.936G>A (p.Leu312=) c.615G>A (p.Leu205=) c.906G>A (p.Leu302=) c.780G>A (p.Leu260=) c.*280G>A (n.*280G>A) c.447G>A (p.Leu149=) c.798G>A (p.Leu266=) c.951G>A (p.Leu317=) c.903G>A (p.Leu301=) c.786G>A (p.Leu262=) c.768G>A (p.Leu256=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.69951885G>C | CA434306304 | MITF | c.888G>C (p.Leu296=) c.885G>C (p.Leu295=) n.1110G>C c.861G>C (p.Leu287=) c.954G>C (p.Leu318=) c.633G>C (p.Leu211=) c.933G>C (p.Leu311=) c.936G>C (p.Leu312=) c.615G>C (p.Leu205=) c.906G>C (p.Leu302=) c.780G>C (p.Leu260=) c.*280G>C (n.*280G>C) c.447G>C (p.Leu149=) c.798G>C (p.Leu266=) c.951G>C (p.Leu317=) c.903G>C (p.Leu301=) c.786G>C (p.Leu262=) c.768G>C (p.Leu256=) | |
3 | g.69951885G= | CA1373443594 | MITF | c.888G= (p.Leu296=) c.885G= (p.Leu295=) n.1110G= c.861G= (p.Leu287=) c.954G= (p.Leu318=) c.633G= (p.Leu211=) c.933G= (p.Leu311=) c.936G= (p.Leu312=) c.615G= (p.Leu205=) c.906G= (p.Leu302=) c.780G= (p.Leu260=) c.*280G= (n.*280G=) c.447G= (p.Leu149=) c.798G= (p.Leu266=) c.951G= (p.Leu317=) c.903G= (p.Leu301=) c.786G= (p.Leu262=) c.768G= (p.Leu256=) | |
3 | g.69951885G>T | CA434306302 | MITF | c.888G>T (p.Leu296=) c.885G>T (p.Leu295=) n.1110G>T c.861G>T (p.Leu287=) c.954G>T (p.Leu318=) c.633G>T (p.Leu211=) c.933G>T (p.Leu311=) c.936G>T (p.Leu312=) c.615G>T (p.Leu205=) c.906G>T (p.Leu302=) c.780G>T (p.Leu260=) c.*280G>T (n.*280G>T) c.447G>T (p.Leu149=) c.798G>T (p.Leu266=) c.951G>T (p.Leu317=) c.903G>T (p.Leu301=) c.786G>T (p.Leu262=) c.768G>T (p.Leu256=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.69951886A>C | CA353561674 | MITF | c.889A>C (p.Ile297Leu) c.886A>C (p.Ile296Leu) n.1111A>C c.862A>C (p.Ile288Leu) c.955A>C (p.Ile319Leu) c.634A>C (p.Ile212Leu) c.934A>C (p.Ile312Leu) c.937A>C (p.Ile313Leu) c.616A>C (p.Ile206Leu) c.907A>C (p.Ile303Leu) c.781A>C (p.Ile261Leu) c.*281A>C (n.*281A>C) c.448A>C (p.Ile150Leu) c.799A>C (p.Ile267Leu) c.952A>C (p.Ile318Leu) c.904A>C (p.Ile302Leu) c.787A>C (p.Ile263Leu) c.769A>C (p.Ile257Leu) | dbSNP gnomAD v4 |
3 | g.69951886A>G | CA353561675 | MITF | c.889A>G (p.Ile297Val) c.886A>G (p.Ile296Val) n.1111A>G c.862A>G (p.Ile288Val) c.955A>G (p.Ile319Val) c.634A>G (p.Ile212Val) c.934A>G (p.Ile312Val) c.937A>G (p.Ile313Val) c.616A>G (p.Ile206Val) c.907A>G (p.Ile303Val) c.781A>G (p.Ile261Val) c.*281A>G (n.*281A>G) c.448A>G (p.Ile150Val) c.799A>G (p.Ile267Val) c.952A>G (p.Ile318Val) c.904A>G (p.Ile302Val) c.787A>G (p.Ile263Val) c.769A>G (p.Ile257Val) | |
3 | g.69951886A>T | CA353561676 | MITF | c.889A>T (p.Ile297Phe) c.886A>T (p.Ile296Phe) n.1111A>T c.862A>T (p.Ile288Phe) c.955A>T (p.Ile319Phe) c.634A>T (p.Ile212Phe) c.934A>T (p.Ile312Phe) c.937A>T (p.Ile313Phe) c.616A>T (p.Ile206Phe) c.907A>T (p.Ile303Phe) c.781A>T (p.Ile261Phe) c.*281A>T (n.*281A>T) c.448A>T (p.Ile150Phe) c.799A>T (p.Ile267Phe) c.952A>T (p.Ile318Phe) c.904A>T (p.Ile302Phe) c.787A>T (p.Ile263Phe) c.769A>T (p.Ile257Phe) | |
3 | g.69951887G>A | CA353561677 | MITF | c.889+1G>A (n.889+1G>A) c.886+1G>A (n.886+1G>A) n.1111+1G>A c.862+1G>A (n.862+1G>A) c.955+1G>A (n.955+1G>A) c.634+1G>A (n.634+1G>A) c.934+1G>A (n.934+1G>A) c.937+1G>A (n.937+1G>A) c.616+1G>A (n.616+1G>A) c.907+1G>A (n.907+1G>A) c.781+1G>A (n.781+1G>A) c.*281+1G>A (n.*281+1G>A) c.448+1G>A (n.448+1G>A) c.799+1G>A (n.799+1G>A) c.952+1G>A (n.952+1G>A) c.904+1G>A (n.904+1G>A) c.787+1G>A (n.787+1G>A) c.769+1G>A (n.769+1G>A) | |
3 | g.69951887G>C | CA353561678 | MITF | c.889+1G>C (n.889+1G>C) c.886+1G>C (n.886+1G>C) n.1111+1G>C c.862+1G>C (n.862+1G>C) c.955+1G>C (n.955+1G>C) c.634+1G>C (n.634+1G>C) c.934+1G>C (n.934+1G>C) c.937+1G>C (n.937+1G>C) c.616+1G>C (n.616+1G>C) c.907+1G>C (n.907+1G>C) c.781+1G>C (n.781+1G>C) c.*281+1G>C (n.*281+1G>C) c.448+1G>C (n.448+1G>C) c.799+1G>C (n.799+1G>C) c.952+1G>C (n.952+1G>C) c.904+1G>C (n.904+1G>C) c.787+1G>C (n.787+1G>C) c.769+1G>C (n.769+1G>C) | ClinVar dbSNP |
3 | g.69951887G>T | CA353561679 | MITF | c.889+1G>T (n.889+1G>T) c.886+1G>T (n.886+1G>T) n.1111+1G>T c.862+1G>T (n.862+1G>T) c.955+1G>T (n.955+1G>T) c.634+1G>T (n.634+1G>T) c.934+1G>T (n.934+1G>T) c.937+1G>T (n.937+1G>T) c.616+1G>T (n.616+1G>T) c.907+1G>T (n.907+1G>T) c.781+1G>T (n.781+1G>T) c.*281+1G>T (n.*281+1G>T) c.448+1G>T (n.448+1G>T) c.799+1G>T (n.799+1G>T) c.952+1G>T (n.952+1G>T) c.904+1G>T (n.904+1G>T) c.787+1G>T (n.787+1G>T) c.769+1G>T (n.769+1G>T) | ClinVar dbSNP |
3 | g.69951888T>A | CA353561680 | MITF | c.889+2T>A (n.889+2T>A) c.886+2T>A (n.886+2T>A) n.1111+2T>A c.862+2T>A (n.862+2T>A) c.955+2T>A (n.955+2T>A) c.634+2T>A (n.634+2T>A) c.934+2T>A (n.934+2T>A) c.937+2T>A (n.937+2T>A) c.616+2T>A (n.616+2T>A) c.907+2T>A (n.907+2T>A) c.781+2T>A (n.781+2T>A) c.*281+2T>A (n.*281+2T>A) c.448+2T>A (n.448+2T>A) c.799+2T>A (n.799+2T>A) c.952+2T>A (n.952+2T>A) c.904+2T>A (n.904+2T>A) c.787+2T>A (n.787+2T>A) c.769+2T>A (n.769+2T>A) | |
3 | g.69951888T>C | CA353561681 | MITF | c.889+2T>C (n.889+2T>C) c.886+2T>C (n.886+2T>C) n.1111+2T>C c.862+2T>C (n.862+2T>C) c.955+2T>C (n.955+2T>C) c.634+2T>C (n.634+2T>C) c.934+2T>C (n.934+2T>C) c.937+2T>C (n.937+2T>C) c.616+2T>C (n.616+2T>C) c.907+2T>C (n.907+2T>C) c.781+2T>C (n.781+2T>C) c.*281+2T>C (n.*281+2T>C) c.448+2T>C (n.448+2T>C) c.799+2T>C (n.799+2T>C) c.952+2T>C (n.952+2T>C) c.904+2T>C (n.904+2T>C) c.787+2T>C (n.787+2T>C) c.769+2T>C (n.769+2T>C) | |
3 | g.69951888T>G | CA353561682 | MITF | c.889+2T>G (n.889+2T>G) c.886+2T>G (n.886+2T>G) n.1111+2T>G c.862+2T>G (n.862+2T>G) c.955+2T>G (n.955+2T>G) c.634+2T>G (n.634+2T>G) c.934+2T>G (n.934+2T>G) c.937+2T>G (n.937+2T>G) c.616+2T>G (n.616+2T>G) c.907+2T>G (n.907+2T>G) c.781+2T>G (n.781+2T>G) c.*281+2T>G (n.*281+2T>G) c.448+2T>G (n.448+2T>G) c.799+2T>G (n.799+2T>G) c.952+2T>G (n.952+2T>G) c.904+2T>G (n.904+2T>G) c.787+2T>G (n.787+2T>G) c.769+2T>G (n.769+2T>G) | COSMIC COSMIC COSMIC COSMIC |
3 | g.69951889A>T | CA2740094495 | MITF | c.889+3A>T (n.889+3A>T) c.886+3A>T (n.886+3A>T) n.1111+3A>T c.862+3A>T (n.862+3A>T) c.955+3A>T (n.955+3A>T) c.634+3A>T (n.634+3A>T) c.934+3A>T (n.934+3A>T) c.937+3A>T (n.937+3A>T) c.616+3A>T (n.616+3A>T) c.907+3A>T (n.907+3A>T) c.781+3A>T (n.781+3A>T) c.*281+3A>T (n.*281+3A>T) c.448+3A>T (n.448+3A>T) c.799+3A>T (n.799+3A>T) c.952+3A>T (n.952+3A>T) c.904+3A>T (n.904+3A>T) c.787+3A>T (n.787+3A>T) c.769+3A>T (n.769+3A>T) | ClinVar |
3 | g.69951892T>C | CA909840925 | MITF | c.889+6T>C (n.889+6T>C) c.886+6T>C (n.886+6T>C) n.1111+6T>C c.862+6T>C (n.862+6T>C) c.955+6T>C (n.955+6T>C) c.634+6T>C (n.634+6T>C) c.934+6T>C (n.934+6T>C) c.937+6T>C (n.937+6T>C) c.616+6T>C (n.616+6T>C) c.907+6T>C (n.907+6T>C) c.781+6T>C (n.781+6T>C) c.*281+6T>C (n.*281+6T>C) c.448+6T>C (n.448+6T>C) c.799+6T>C (n.799+6T>C) c.952+6T>C (n.952+6T>C) c.904+6T>C (n.904+6T>C) c.787+6T>C (n.787+6T>C) c.769+6T>C (n.769+6T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.69951892T= | CA1373443597 | MITF | c.889+6T= (n.889+6T=) c.886+6T= (n.886+6T=) n.1111+6T= c.862+6T= (n.862+6T=) c.955+6T= (n.955+6T=) c.634+6T= (n.634+6T=) c.934+6T= (n.934+6T=) c.937+6T= (n.937+6T=) c.616+6T= (n.616+6T=) c.907+6T= (n.907+6T=) c.781+6T= (n.781+6T=) c.*281+6T= (n.*281+6T=) c.448+6T= (n.448+6T=) c.799+6T= (n.799+6T=) c.952+6T= (n.952+6T=) c.904+6T= (n.904+6T=) c.787+6T= (n.787+6T=) c.769+6T= (n.769+6T=) | |
3 | g.69951893T>C | CA2577819626 | MITF | c.889+7T>C (n.889+7T>C) c.886+7T>C (n.886+7T>C) n.1111+7T>C c.862+7T>C (n.862+7T>C) c.955+7T>C (n.955+7T>C) c.634+7T>C (n.634+7T>C) c.934+7T>C (n.934+7T>C) c.937+7T>C (n.937+7T>C) c.616+7T>C (n.616+7T>C) c.907+7T>C (n.907+7T>C) c.781+7T>C (n.781+7T>C) c.*281+7T>C (n.*281+7T>C) c.448+7T>C (n.448+7T>C) c.799+7T>C (n.799+7T>C) c.952+7T>C (n.952+7T>C) c.904+7T>C (n.904+7T>C) c.787+7T>C (n.787+7T>C) c.769+7T>C (n.769+7T>C) | |
3 | g.69951893T>G | CA2577819627 | MITF | c.889+7T>G (n.889+7T>G) c.886+7T>G (n.886+7T>G) n.1111+7T>G c.862+7T>G (n.862+7T>G) c.955+7T>G (n.955+7T>G) c.634+7T>G (n.634+7T>G) c.934+7T>G (n.934+7T>G) c.937+7T>G (n.937+7T>G) c.616+7T>G (n.616+7T>G) c.907+7T>G (n.907+7T>G) c.781+7T>G (n.781+7T>G) c.*281+7T>G (n.*281+7T>G) c.448+7T>G (n.448+7T>G) c.799+7T>G (n.799+7T>G) c.952+7T>G (n.952+7T>G) c.904+7T>G (n.904+7T>G) c.787+7T>G (n.787+7T>G) c.769+7T>G (n.769+7T>G) | ClinVar |