Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.42839187T>A | CA371107656 | THAP1 | c.266A>T (p.Lys89Met) c.72-851A>T (n.72-851A>T) | |
8 | g.42839187T>C | CA115122 | THAP1 | c.266A>G (p.Lys89Arg) c.72-851A>G (n.72-851A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.42839187T>G | CA371107655 | THAP1 | c.266A>C (p.Lys89Thr) c.72-851A>C (n.72-851A>C) | |
8 | g.42839187T= | CA1779608119 | THAP1 | c.266A= (p.Lys89=) c.72-851A= (n.72-851A=) | |
8 | g.42839188T>A | CA371107657 | THAP1 | c.265A>T (p.Lys89Ter) c.72-852A>T (n.72-852A>T) | |
8 | g.42839188T>C | CA371107658 | THAP1 | c.265A>G (p.Lys89Glu) c.72-852A>G (n.72-852A>G) | gnomAD v4 |
8 | g.42839188T>G | CA371107659 | THAP1 | c.265A>C (p.Lys89Gln) c.72-852A>C (n.72-852A>C) | |
8 | g.42839189G>A | CA460569071 | THAP1 | c.264C>T (p.Asp88=) c.72-853C>T (n.72-853C>T) | |
8 | g.42839189G>C | CA371107660 | THAP1 | c.264C>G (p.Asp88Glu) c.72-853C>G (n.72-853C>G) | gnomAD v4 |
8 | g.42839189G>T | CA371107661 | THAP1 | c.264C>A (p.Asp88Glu) c.72-853C>A (n.72-853C>A) | |
8 | g.42839190T>A | CA371107662 | THAP1 | c.263A>T (p.Asp88Val) c.72-854A>T (n.72-854A>T) | |
8 | g.42839190T>C | CA4734577 | THAP1 | c.263A>G (p.Asp88Gly) c.72-854A>G (n.72-854A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.42839190T>G | CA371107663 | THAP1 | c.263A>C (p.Asp88Ala) c.72-854A>C (n.72-854A>C) | |
8 | g.42839190T= | CA1779608120 | THAP1 | c.263A= (p.Asp88=) c.72-854A= (n.72-854A=) | |
8 | g.42839191C>A | CA371107664 | THAP1 | c.262G>T (p.Asp88Tyr) c.72-855G>T (n.72-855G>T) | |
8 | g.42839191C>G | CA371107665 | THAP1 | c.262G>C (p.Asp88His) c.72-855G>C (n.72-855G>C) | |
8 | g.42839191C>T | CA371107666 | THAP1 | c.262G>A (p.Asp88Asn) c.72-855G>A (n.72-855G>A) | gnomAD v4 |
8 | g.42839192A>C | CA371107667 | THAP1 | c.261T>G (p.His87Gln) c.72-856T>G (n.72-856T>G) | |
8 | g.42839192A>G | CA460569072 | THAP1 | c.261T>C (p.His87=) c.72-856T>C (n.72-856T>C) | gnomAD v4 |
8 | g.42839192A>T | CA371107668 | THAP1 | c.261T>A (p.His87Gln) c.72-856T>A (n.72-856T>A) | |
8 | g.42839193T>A | CA371107669 | THAP1 | c.260A>T (p.His87Leu) c.72-857A>T (n.72-857A>T) | |
8 | g.42839193T>C | CA371107671 | THAP1 | c.260A>G (p.His87Arg) c.72-857A>G (n.72-857A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.42839193T>G | CA371107670 | THAP1 | c.260A>C (p.His87Pro) c.72-857A>C (n.72-857A>C) | |
8 | g.42839193T= | CA1779608121 | THAP1 | c.260A= (p.His87=) c.72-857A= (n.72-857A=) | |
8 | g.42839194G>A | CA4734578 | THAP1 | c.259C>T (p.His87Tyr) c.72-858C>T (n.72-858C>T) | dbSNP ExAC gnomAD v4 |
8 | g.42839194G>C | CA371107672 | THAP1 | c.259C>G (p.His87Asp) c.72-858C>G (n.72-858C>G) | |
8 | g.42839194G= | CA1779608122 | THAP1 | c.259C= (p.His87=) c.72-858C= (n.72-858C=) | |
8 | g.42839194G>T | CA371107673 | THAP1 | c.259C>A (p.His87Asn) c.72-858C>A (n.72-858C>A) | |
8 | g.42839195T>A | CA460569073 | THAP1 | c.258A>T (p.Pro86=) c.72-859A>T (n.72-859A>T) | |
8 | g.42839195T>C | CA460569074 | THAP1 | c.258A>G (p.Pro86=) c.72-859A>G (n.72-859A>G) | |
8 | g.42839195T>G | CA460569075 | THAP1 | c.258A>C (p.Pro86=) c.72-859A>C (n.72-859A>C) | |
8 | g.42839196G>A | CA371107674 | THAP1 | c.257C>T (p.Pro86Leu) c.72-860C>T (n.72-860C>T) | |
8 | g.42839196G>C | CA371107675 | THAP1 | c.257C>G (p.Pro86Arg) c.72-860C>G (n.72-860C>G) | |
8 | g.42839196G>T | CA371107676 | THAP1 | c.257C>A (p.Pro86Gln) c.72-860C>A (n.72-860C>A) | |
8 | g.42839197G>A | CA371107677 | THAP1 | c.256C>T (p.Pro86Ser) c.72-861C>T (n.72-861C>T) | |
8 | g.42839197G>C | CA4734579 | THAP1 | c.256C>G (p.Pro86Ala) c.72-861C>G (n.72-861C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.42839197G= | CA1779608123 | THAP1 | c.256C= (p.Pro86=) c.72-861C= (n.72-861C=) | |
8 | g.42839197G>T | CA371107678 | THAP1 | c.256C>A (p.Pro86Thr) c.72-861C>A (n.72-861C>A) | |
8 | g.42839198C>A | CA371107679 | THAP1 | c.255G>T (p.Glu85Asp) c.72-862G>T (n.72-862G>T) | |
8 | g.42839198C>G | CA371107680 | THAP1 | c.255G>C (p.Glu85Asp) c.72-862G>C (n.72-862G>C) | |
8 | g.42839198C>T | CA460569076 | THAP1 | c.255G>A (p.Glu85=) c.72-862G>A (n.72-862G>A) | |
8 | g.42839199T>A | CA176034646 | THAP1 | c.254A>T (p.Glu85Val) c.72-863A>T (n.72-863A>T) | dbSNP gnomAD v2 |
8 | g.42839199T>C | CA371107682 | THAP1 | c.254A>G (p.Glu85Gly) c.72-863A>G (n.72-863A>G) | |
8 | g.42839199T>G | CA371107681 | THAP1 | c.254A>C (p.Glu85Ala) c.72-863A>C (n.72-863A>C) | |
8 | g.42839199T= | CA1779608124 | THAP1 | c.254A= (p.Glu85=) c.72-863A= (n.72-863A=) | |
8 | g.42839200C>A | CA371107685 | THAP1 | c.253G>T (p.Glu85Ter) c.72-864G>T (n.72-864G>T) | |
8 | g.42839200C>G | CA371107683 | THAP1 | c.253G>C (p.Glu85Gln) c.72-864G>C (n.72-864G>C) | |
8 | g.42839200C>T | CA371107684 | THAP1 | c.253G>A (p.Glu85Lys) c.72-864G>A (n.72-864G>A) | COSMIC |
8 | g.42839201A= | CA1779608125 | THAP1 | c.252T= (p.Thr84=) c.72-865T= (n.72-865T=) | |
8 | g.42839201A>C | CA460569077 | THAP1 | c.252T>G (p.Thr84=) c.72-865T>G (n.72-865T>G) |