Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.42843033_42843036del | CA2695209249 | THAP1 | c.63_66del (p.Phe22ThrfsTer?) c.63_66del (p.Phe22ThrfsTer25) | |
8 | g.42843033G>A | CA16621865 | THAP1 | c.62C>T (p.Ser21Phe) | ClinVar dbSNP |
8 | g.42843033G>C | CA371109437 | THAP1 | c.62C>G (p.Ser21Cys) | |
8 | g.42843033G= | CA1779610117 | THAP1 | c.62C= (p.Ser21=) | |
8 | g.42843033G>T | CA371109438 | THAP1 | c.62C>A (p.Ser21Tyr) | |
8 | g.42843034A= | CA1779610118 | THAP1 | c.61T= (p.Ser21=) | |
8 | g.42843034A>C | CA371109439 | THAP1 | c.61T>G (p.Ser21Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.42843034A>G | CA371109440 | THAP1 | c.61T>C (p.Ser21Pro) | |
8 | g.42843034A>T | CA371109441 | THAP1 | c.61T>A (p.Ser21Thr) | |
8 | g.42843035A>C | CA460569203 | THAP1 | c.60T>G (p.Val20=) | |
8 | g.42843035A>G | CA460569204 | THAP1 | c.60T>C (p.Val20=) | |
8 | g.42843035A>T | CA460569205 | THAP1 | c.60T>A (p.Val20=) | |
8 | g.42843036A>C | CA371109442 | THAP1 | c.59T>G (p.Val20Gly) | |
8 | g.42843036A>G | CA371109443 | THAP1 | c.59T>C (p.Val20Ala) | |
8 | g.42843036A>T | CA371109444 | THAP1 | c.59T>A (p.Val20Asp) | |
8 | g.42843037C>A | CA371109447 | THAP1 | c.58G>T (p.Val20Phe) | |
8 | g.42843037C>G | CA371109445 | THAP1 | c.58G>C (p.Val20Leu) | |
8 | g.42843037C>T | CA371109446 | THAP1 | c.58G>A (p.Val20Ile) | gnomAD v4 |
8 | g.42843038G>A | CA4734631 | THAP1 | c.57C>T (p.Pro19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.42843038G>C | CA460569210 | THAP1 | c.57C>G (p.Pro19=) | |
8 | g.42843038G= | CA1779610119 | THAP1 | c.57C= (p.Pro19=) | |
8 | g.42843038G>T | CA460569209 | THAP1 | c.57C>A (p.Pro19=) | |
8 | g.42843039G>A | CA371109449 | THAP1 | c.56C>T (p.Pro19Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.42843039G>C | CA371109448 | THAP1 | c.56C>G (p.Pro19Arg) | |
8 | g.42843039G= | CA1779610120 | THAP1 | c.56C= (p.Pro19=) | |
8 | g.42843039G>T | CA371109450 | THAP1 | c.56C>A (p.Pro19His) | |
8 | g.42843040G>A | CA371109451 | THAP1 | c.55C>T (p.Pro19Ser) | |
8 | g.42843040G>C | CA371109453 | THAP1 | c.55C>G (p.Pro19Ala) | dbSNP |
8 | g.42843040G= | CA1779610121 | THAP1 | c.55C= (p.Pro19=) | |
8 | g.42843040G>T | CA371109452 | THAP1 | c.55C>A (p.Pro19Thr) | |
8 | g.42843041C>A | CA371109454 | THAP1 | c.54G>T (p.Lys18Asn) | |
8 | g.42843041C>G | CA371109455 | THAP1 | c.54G>C (p.Lys18Asn) | |
8 | g.42843041C>T | CA460569212 | THAP1 | c.54G>A (p.Lys18=) | |
8 | g.42843042T>A | CA371109456 | THAP1 | c.53A>T (p.Lys18Met) | |
8 | g.42843042T>C | CA371109458 | THAP1 | c.53A>G (p.Lys18Arg) | gnomAD v4 |
8 | g.42843042T>G | CA371109457 | THAP1 | c.53A>C (p.Lys18Thr) | |
8 | g.42843043T>A | CA371109459 | THAP1 | c.52A>T (p.Lys18Ter) | |
8 | g.42843043T>C | CA371109461 | THAP1 | c.52A>G (p.Lys18Glu) | ClinVar dbSNP |
8 | g.42843043T>G | CA371109460 | THAP1 | c.52A>C (p.Lys18Gln) | |
8 | g.42843044G>A | CA176036704 | THAP1 | c.51C>T (p.Asp17=) | dbSNP gnomAD v2 |
8 | g.42843044G>C | CA371109462 | THAP1 | c.51C>G (p.Asp17Glu) | gnomAD v4 |
8 | g.42843044G= | CA1779610122 | THAP1 | c.51C= (p.Asp17=) | |
8 | g.42843044G>T | CA371109463 | THAP1 | c.51C>A (p.Asp17Glu) | |
8 | g.42843045T>A | CA371109464 | THAP1 | c.50A>T (p.Asp17Val) | |
8 | g.42843045T>C | CA4734632 | THAP1 | c.50A>G (p.Asp17Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.42843045T>G | CA371109465 | THAP1 | c.50A>C (p.Asp17Ala) | |
8 | g.42843045T= | CA1779610123 | THAP1 | c.50A= (p.Asp17=) | |
8 | g.42843046C>A | CA371109466 | THAP1 | c.49G>T (p.Asp17Tyr) | |
8 | g.42843046C>G | CA371109467 | THAP1 | c.49G>C (p.Asp17His) | |
8 | g.42843046C>T | CA371109468 | THAP1 | c.49G>A (p.Asp17Asn) |