Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.173234748_173235311delinsACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGGCAGCTTCCCTGCATGGTGCCGCCGCCCGCCCGCGCACCCGTCGGCCAGCTCTGGATGTGTCCGGGCAGCAGGTAGCGCTGAGCACAAGGGGCAGGAGAGGCGGGACCAGGCCAGAGGAGGGGGACTCAGCCTGCCATTGGGCCAGGGGCCTCGATGACAGGAG | CA1601616961 | NKX2-5 | c.-228_334+2delinsCTCCTGTCATCGAGGCCCCTGGCCCAATGGCAGGCTGAGTCCCCCTCCTCTGGCCTGGTCCCGCCTCTCCTGCCCCTTGTGCTCAGCGCTACCTGCTGCCCGGACACATCCAGAGCTGGCCGACGGGTGCGCGGGCGGGCGGCGGCACCATGCAGGGAAGCTGCCAGGGGCCGTGGGCAGCGCCGCTTTCTGCCGCCCACCTGGCGCTGTGAGACTGGCGCTGCCACCATGTTCCCCAGCCCTGCTCTCACGCCCACGCCCTTCTCAGTCAAAGACATCCTAAACCTGGAACAGCAGCAGCGCAGCCTGGCTGCCGCCGGAGAGCTCTCTGCCCGCCTGGAGGCGACCCTGGCGCCCTCCTCCTGCATGCTGGCCGCCTTCAAGCCAGAGGCCTACGCTGGGCCCGAGGCGGCTGCGCCGGGCCTCCCAGAGCTGCGCGCAGAGCTGGGCCGCGCGCCTTCACCGGCCAAGTGTGCGTCTGCCTTTCCCGCCGCCCCCGCCTTCTATCCACGTGCCTACAGCGACCCCGACCCAGCCAAGGACCCTAGAGCCGAAAAGAAAGGT | |
5 | g.173234750_173235312del | CA915942752 | NKX2-5 | c.-228_334+1del | ClinVar dbSNP |
5 | g.173234925_173234972dup | CA2582341657 | NKX2-5 | c.117_164dup (p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeuAlaAlaPheLysProGluAla) | ClinVar |
5 | g.173234940C>A | CA447975256 | NKX2-5 | c.144G>T (p.Leu48=) | |
5 | g.173234940C>G | CA447975257 | NKX2-5 | c.144G>C (p.Leu48=) | |
5 | g.173234940C>T | CA447975258 | NKX2-5 | c.144G>A (p.Leu48=) | |
5 | g.173234941A= | CA1601617059 | NKX2-5 | c.143T= (p.Leu48=) | |
5 | g.173234941A>C | CA362163601 | NKX2-5 | c.143T>G (p.Leu48Arg) | gnomAD v4 |
5 | g.173234941A>G | CA362163603 | NKX2-5 | c.143T>C (p.Leu48Pro) | ClinVar dbSNP gnomAD v2 |
5 | g.173234941A>T | CA362163602 | NKX2-5 | c.143T>A (p.Leu48Gln) | |
5 | g.173234942G>A | CA447975259 | NKX2-5 | c.142C>T (p.Leu48=) | |
5 | g.173234942G>C | CA362163604 | NKX2-5 | c.142C>G (p.Leu48Val) | gnomAD v4 |
5 | g.173234942G>T | CA362163605 | NKX2-5 | c.142C>A (p.Leu48Met) | |
5 | g.173234944_173234960del | CA2695205824 | NKX2-5 | c.126_142del (p.Pro43GlyfsTer?) | |
5 | g.173234943C>A | CA362163606 | NKX2-5 | c.141G>T (p.Met47Ile) | |
5 | g.173234943C>G | CA362163607 | NKX2-5 | c.141G>C (p.Met47Ile) | |
5 | g.173234943C>T | CA362163608 | NKX2-5 | c.141G>A (p.Met47Ile) | |
5 | g.173234944A>C | CA362163609 | NKX2-5 | c.140T>G (p.Met47Arg) | |
5 | g.173234944A>G | CA362163610 | NKX2-5 | c.140T>C (p.Met47Thr) | |
5 | g.173234944A>T | CA362163611 | NKX2-5 | c.140T>A (p.Met47Lys) | |
5 | g.173234945T>A | CA362163612 | NKX2-5 | c.139A>T (p.Met47Leu) | |
5 | g.173234945T>C | CA362163613 | NKX2-5 | c.139A>G (p.Met47Val) | gnomAD v4 |
5 | g.173234945T>G | CA362163614 | NKX2-5 | c.139A>C (p.Met47Leu) | |
5 | g.173234946G>A | CA3563842 | NKX2-5 | c.138C>T (p.Cys46=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.173234946G>C | CA362163616 | NKX2-5 | c.138C>G (p.Cys46Trp) | |
5 | g.173234946G= | CA1601617060 | NKX2-5 | c.138C= (p.Cys46=) | |
5 | g.173234946G>T | CA362163615 | NKX2-5 | c.138C>A (p.Cys46Ter) | |
5 | g.173234947C>A | CA362163617 | NKX2-5 | c.137G>T (p.Cys46Phe) | |
5 | g.173234947C>G | CA362163618 | NKX2-5 | c.137G>C (p.Cys46Ser) | |
5 | g.173234947C>T | CA362163619 | NKX2-5 | c.137G>A (p.Cys46Tyr) | |
5 | g.173234948A= | CA1601617061 | NKX2-5 | c.136T= (p.Cys46=) | |
5 | g.173234948A>C | CA362163620 | NKX2-5 | c.136T>G (p.Cys46Gly) | |
5 | g.173234948A>G | CA362163621 | NKX2-5 | c.136T>C (p.Cys46Arg) | dbSNP |
5 | g.173234948A>T | CA362163622 | NKX2-5 | c.136T>A (p.Cys46Ser) | |
5 | g.173234949G>A | CA447975263 | NKX2-5 | c.135C>T (p.Ser45=) | gnomAD v4 |
5 | g.173234949G>C | CA447975264 | NKX2-5 | c.135C>G (p.Ser45=) | |
5 | g.173234949G>T | CA447975266 | NKX2-5 | c.135C>A (p.Ser45=) | |
5 | g.173234950G>A | CA362163623 | NKX2-5 | c.134C>T (p.Ser45Phe) | |
5 | g.173234950G>C | CA362163624 | NKX2-5 | c.134C>G (p.Ser45Cys) | |
5 | g.173234950G>T | CA362163625 | NKX2-5 | c.134C>A (p.Ser45Tyr) | gnomAD v4 |
5 | g.173234951A= | CA1601617062 | NKX2-5 | c.133T= (p.Ser45=) | |
5 | g.173234951A>C | CA3563843 | NKX2-5 | c.133T>G (p.Ser45Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.173234951A>G | CA132260457 | NKX2-5 | c.133T>C (p.Ser45Pro) | ClinVar dbSNP COSMIC |
5 | g.173234951A>T | CA362163626 | NKX2-5 | c.133T>A (p.Ser45Thr) | |
5 | g.173234952G>A | CA447975268 | NKX2-5 | c.132C>T (p.Ser44=) | gnomAD v4 |
5 | g.173234952G>C | CA447975269 | NKX2-5 | c.132C>G (p.Ser44=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.173234952G= | CA1601617063 | NKX2-5 | c.132C= (p.Ser44=) | |
5 | g.173234952G>T | CA447975271 | NKX2-5 | c.132C>A (p.Ser44=) | |
5 | g.173234953G>A | CA362163628 | NKX2-5 | c.131C>T (p.Ser44Phe) | |
5 | g.173234953G>C | CA362163629 | NKX2-5 | c.131C>G (p.Ser44Cys) |