| 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.173234900_173234919dup | CA2573139450 | NKX2-5 | c.167_186dup (p.Ala63ThrfsTer?)
| ClinVar dbSNP |
| 5 | g.173234919G>A | CA447975228 | NKX2-5 | c.165C>T (p.Ala55=)
| gnomAD v4 |
| 5 | g.173234919G>C | CA447975227 | NKX2-5 | c.165C>G (p.Ala55=)
| |
| 5 | g.173234919G>T | CA447975226 | NKX2-5 | c.165C>A (p.Ala55=)
| |
| 5 | g.173234920G>A | CA362163559 | NKX2-5 | c.164C>T (p.Ala55Val)
| gnomAD v4 |
| 5 | g.173234920G>C | CA362163558 | NKX2-5 | c.164C>G (p.Ala55Gly)
| gnomAD v4 |
| 5 | g.173234920G>T | CA362163557 | NKX2-5 | c.164C>A (p.Ala55Asp)
| |
| 5 | g.173234920_173234937delinsGCCTCTGGCTTGAAGGCG | CA1601617050 | NKX2-5 | c.147_164delinsCGCCTTCAAGCCAGAGGC (p.Ala49=)
| |
| 5 | g.173234925_173234972dup | CA2582341657 | NKX2-5 | c.117_164dup (p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeuAlaAlaPheLysProGluAla)
| ClinVar |
| 5 | g.173234921C>A | CA362163560 | NKX2-5 | c.163G>T (p.Ala55Ser)
| |
| 5 | g.173234921C= | CA1601617051 | NKX2-5 | c.163G= (p.Ala55=)
| |
| 5 | g.173234921C>G | CA362163561 | NKX2-5 | c.163G>C (p.Ala55Pro)
| |
| 5 | g.173234921C>T | CA132260444 | NKX2-5 | c.163G>A (p.Ala55Thr)
| dbSNP gnomAD v4 |
| 5 | g.173234921_173234937delinsAGGAGGC | CA891842716 | NKX2-5 | c.147_163delinsGCCTCCT (p.Ala50ProfsTer?)
| ClinVar dbSNP |
| 5 | g.173234922C>A | CA132260451 | NKX2-5 | c.162G>T (p.Glu54Asp)
| dbSNP |
| 5 | g.173234922C= | CA1601617052 | NKX2-5 | c.162G= (p.Glu54=)
| |
| 5 | g.173234922C>G | CA362163562 | NKX2-5 | c.162G>C (p.Glu54Asp)
| |
| 5 | g.173234922C>T | CA447975232 | NKX2-5 | c.162G>A (p.Glu54=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234923T>A | CA362163563 | NKX2-5 | c.161A>T (p.Glu54Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234923T>C | CA362163564 | NKX2-5 | c.161A>G (p.Glu54Gly)
| |
| 5 | g.173234923T>G | CA362163565 | NKX2-5 | c.161A>C (p.Glu54Ala)
| |
| 5 | g.173234923T= | CA1601617053 | NKX2-5 | c.161A= (p.Glu54=)
| |
| 5 | g.173234924C>A | CA362163566 | NKX2-5 | c.160G>T (p.Glu54Ter)
| COSMIC |
| 5 | g.173234924C>G | CA362163567 | NKX2-5 | c.160G>C (p.Glu54Gln)
| gnomAD v4 |
| 5 | g.173234924C>T | CA362163568 | NKX2-5 | c.160G>A (p.Glu54Lys)
| |
| 5 | g.173234924_173234925insGGGCCAGC | CA1139659258 | NKX2-5 | c.160_161insCTGGCCCG (p.Glu54AlafsTer?)
| ClinVar dbSNP |
| 5 | g.173234925T>A | CA447975236 | NKX2-5 | c.159A>T (p.Pro53=)
| ClinVar dbSNP |
| 5 | g.173234925T>C | CA447975237 | NKX2-5 | c.159A>G (p.Pro53=)
| |
| 5 | g.173234925T>G | CA447975238 | NKX2-5 | c.159A>C (p.Pro53=)
| dbSNP |
| 5 | g.173234925T= | CA1601617054 | NKX2-5 | c.159A= (p.Pro53=)
| |
| 5 | g.173234926G>A | CA362163571 | NKX2-5 | c.158C>T (p.Pro53Leu)
| |
| 5 | g.173234926G>C | CA362163570 | NKX2-5 | c.158C>G (p.Pro53Arg)
| |
| 5 | g.173234926G>T | CA362163569 | NKX2-5 | c.158C>A (p.Pro53Gln)
| |
| 5 | g.173234927G>A | CA362163572 | NKX2-5 | c.157C>T (p.Pro53Ser)
| |
| 5 | g.173234927G>C | CA362163573 | NKX2-5 | c.157C>G (p.Pro53Ala)
| |
| 5 | g.173234927G>T | CA362163574 | NKX2-5 | c.157C>A (p.Pro53Thr)
| |
| 5 | g.173234928C>A | CA362163575 | NKX2-5 | c.156G>T (p.Lys52Asn)
| ClinVar |
| 5 | g.173234928C= | CA1601617055 | NKX2-5 | c.156G= (p.Lys52=)
| |
| 5 | g.173234928C>G | CA362163576 | NKX2-5 | c.156G>C (p.Lys52Asn)
| |
| 5 | g.173234928C>T | CA447975240 | NKX2-5 | c.156G>A (p.Lys52=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234929T>A | CA362163577 | NKX2-5 | c.155A>T (p.Lys52Met)
| |
| 5 | g.173234929T>C | CA362163578 | NKX2-5 | c.155A>G (p.Lys52Arg)
| |
| 5 | g.173234929T>G | CA362163579 | NKX2-5 | c.155A>C (p.Lys52Thr)
| |
| 5 | g.173234930T>A | CA362163580 | NKX2-5 | c.154A>T (p.Lys52Ter)
| |
| 5 | g.173234930T>C | CA362163581 | NKX2-5 | c.154A>G (p.Lys52Glu)
| |
| 5 | g.173234930T>G | CA3563840 | NKX2-5 | c.154A>C (p.Lys52Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234930T= | CA1601617056 | NKX2-5 | c.154A= (p.Lys52=)
| |
| 5 | g.173234931G>A | CA447975242 | NKX2-5 | c.153C>T (p.Phe51=)
| |
| 5 | g.173234931G>C | CA362163582 | NKX2-5 | c.153C>G (p.Phe51Leu)
| |
| 5 | g.173234931G>T | CA362163583 | NKX2-5 | c.153C>A (p.Phe51Leu)
| |
| 5 | g.173234932A>C | CA362163585 | NKX2-5 | c.152T>G (p.Phe51Cys)
| |
| 5 | g.173234932A>G | CA362163586 | NKX2-5 | c.152T>C (p.Phe51Ser)
| |
| 5 | g.173234932A>T | CA362163584 | NKX2-5 | c.152T>A (p.Phe51Tyr)
| |
| 5 | g.173234933A= | CA1601617057 | NKX2-5 | c.151T= (p.Phe51=)
| |
| 5 | g.173234933A>C | CA362163588 | NKX2-5 | c.151T>G (p.Phe51Val)
| |
| 5 | g.173234933A>G | CA3563841 | NKX2-5 | c.151T>C (p.Phe51Leu)
| dbSNP ExAC gnomAD v2 |
| 5 | g.173234933A>T | CA362163587 | NKX2-5 | c.151T>A (p.Phe51Ile)
| |
| 5 | g.173234934G>A | CA447975245 | NKX2-5 | c.150C>T (p.Ala50=)
| |
| 5 | g.173234934G>C | CA447975246 | NKX2-5 | c.150C>G (p.Ala50=)
| |
| 5 | g.173234934G>T | CA447975247 | NKX2-5 | c.150C>A (p.Ala50=)
| |
| 5 | g.173234935G>A | CA362163589 | NKX2-5 | c.149C>T (p.Ala50Val)
| |
| 5 | g.173234935G>C | CA362163590 | NKX2-5 | c.149C>G (p.Ala50Gly)
| |
| 5 | g.173234935G>T | CA362163591 | NKX2-5 | c.149C>A (p.Ala50Asp)
| |
| 5 | g.173234936C>A | CA362163594 | NKX2-5 | c.148G>T (p.Ala50Ser)
| gnomAD v4 |
| 5 | g.173234936C>G | CA362163593 | NKX2-5 | c.148G>C (p.Ala50Pro)
| |
| 5 | g.173234936C>T | CA362163592 | NKX2-5 | c.148G>A (p.Ala50Thr)
| gnomAD v4 |
| 5 | g.173234937G>A | CA447975252 | NKX2-5 | c.147C>T (p.Ala49=)
| gnomAD v4 COSMIC |
| 5 | g.173234937G>C | CA16604869 | NKX2-5 | c.147C>G (p.Ala49=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234937G= | CA1601617058 | NKX2-5 | c.147C= (p.Ala49=)
| |
| 5 | g.173234937G>T | CA447975251 | NKX2-5 | c.147C>A (p.Ala49=)
| |
| 5 | g.173234938G>A | CA362163595 | NKX2-5 | c.146C>T (p.Ala49Val)
| gnomAD v4 |
| 5 | g.173234938G>C | CA362163596 | NKX2-5 | c.146C>G (p.Ala49Gly)
| |
| 5 | g.173234938G>T | CA362163597 | NKX2-5 | c.146C>A (p.Ala49Asp)
| |
| 5 | g.173234939C>A | CA362163598 | NKX2-5 | c.145G>T (p.Ala49Ser)
| |
| 5 | g.173234939C>G | CA362163599 | NKX2-5 | c.145G>C (p.Ala49Pro)
| |
| 5 | g.173234939C>T | CA362163600 | NKX2-5 | c.145G>A (p.Ala49Thr)
| |
| 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)
| |
| 5 | g.173234953G>T | CA362163627 | NKX2-5 | c.131C>A (p.Ser44Tyr)
| |
| 5 | g.173234954A>C | CA362163630 | NKX2-5 | c.130T>G (p.Ser44Ala)
| |
| 5 | g.173234954A>G | CA362163631 | NKX2-5 | c.130T>C (p.Ser44Pro)
| |
| 5 | g.173234954A>T | CA362163632 | NKX2-5 | c.130T>A (p.Ser44Thr)
| |
| 5 | g.173234955G>A | CA447975272 | NKX2-5 | c.129C>T (p.Pro43=)
| gnomAD v4 |
| 5 | g.173234955G>C | CA447975273 | NKX2-5 | c.129C>G (p.Pro43=)
| |
| 5 | g.173234955G>T | CA447975274 | NKX2-5 | c.129C>A (p.Pro43=)
| |
| 5 | g.173234956G>A | CA362163633 | NKX2-5 | c.128C>T (p.Pro43Leu)
| |
| 5 | g.173234956G>C | CA362163634 | NKX2-5 | c.128C>G (p.Pro43Arg)
| |
| 5 | g.173234956G>T | CA362163635 | NKX2-5 | c.128C>A (p.Pro43His)
| |
| 5 | g.173234957G>A | CA362163636 | NKX2-5 | c.127C>T (p.Pro43Ser)
| |
| 5 | g.173234957G>C | CA362163638 | NKX2-5 | c.127C>G (p.Pro43Ala)
| |
| 5 | g.173234957G>T | CA362163637 | NKX2-5 | c.127C>A (p.Pro43Thr)
| |
| 5 | g.173234958C>A | CA3563844 | NKX2-5 | c.126G>T (p.Ala42=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234958C= | CA1601617064 | NKX2-5 | c.126G= (p.Ala42=)
| |
| 5 | g.173234958C>G | CA447975278 | NKX2-5 | c.126G>C (p.Ala42=)
| |
| 5 | g.173234958C>T | CA447975279 | NKX2-5 | c.126G>A (p.Ala42=)
| |
| 5 | g.173234959G>A | CA362163639 | NKX2-5 | c.125C>T (p.Ala42Val)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.173234959G>C | CA362163640 | NKX2-5 | c.125C>G (p.Ala42Gly)
| |
| 5 | g.173234959G= | CA1601617065 | NKX2-5 | c.125C= (p.Ala42=)
| |
| 5 | g.173234959G>T | CA362163641 | NKX2-5 | c.125C>A (p.Ala42Glu)
| dbSNP |
| 5 | g.173234960C>A | CA362163643 | NKX2-5 | c.124G>T (p.Ala42Ser)
| |
| 5 | g.173234960C= | CA1601617066 | NKX2-5 | c.124G= (p.Ala42=)
| |
| 5 | g.173234960C>G | CA302112 | NKX2-5 | c.124G>C (p.Ala42Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234960C>T | CA362163642 | NKX2-5 | c.124G>A (p.Ala42Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234961C>A | CA447975282 | NKX2-5 | c.123G>T (p.Leu41=)
| |
| 5 | g.173234961C>G | CA447975284 | NKX2-5 | c.123G>C (p.Leu41=)
| |
| 5 | g.173234961C>T | CA447975283 | NKX2-5 | c.123G>A (p.Leu41=)
| |
| 5 | g.173234962A>C | CA362163644 | NKX2-5 | c.122T>G (p.Leu41Arg)
| |
| 5 | g.173234962A>G | CA362163646 | NKX2-5 | c.122T>C (p.Leu41Pro)
| gnomAD v4 |
| 5 | g.173234962A>T | CA362163645 | NKX2-5 | c.122T>A (p.Leu41Gln)
| |
| 5 | g.173234963G>A | CA447975288 | NKX2-5 | c.121C>T (p.Leu41=)
| |
| 5 | g.173234963G>C | CA362163647 | NKX2-5 | c.121C>G (p.Leu41Val)
| |
| 5 | g.173234963G>T | CA362163648 | NKX2-5 | c.121C>A (p.Leu41Met)
| |
| 5 | g.173234964G>A | CA447975289 | NKX2-5 | c.120C>T (p.Thr40=)
| |
| 5 | g.173234964G>C | CA447975290 | NKX2-5 | c.120C>G (p.Thr40=)
| dbSNP |
| 5 | g.173234964G= | CA1601617067 | NKX2-5 | c.120C= (p.Thr40=)
| |
| 5 | g.173234964G>T | CA447975291 | NKX2-5 | c.120C>A (p.Thr40=)
| |
| 5 | g.173234965G>A | CA362163649 | NKX2-5 | c.119C>T (p.Thr40Ile)
| |
| 5 | g.173234965G>C | CA362163651 | NKX2-5 | c.119C>G (p.Thr40Ser)
| |
| 5 | g.173234965G>T | CA362163650 | NKX2-5 | c.119C>A (p.Thr40Asn)
| gnomAD v4 |
| 5 | g.173234966T>A | CA362163652 | NKX2-5 | c.118A>T (p.Thr40Ser)
| |
| 5 | g.173234966T>C | CA362163653 | NKX2-5 | c.118A>G (p.Thr40Ala)
| |
| 5 | g.173234966T>G | CA362163654 | NKX2-5 | c.118A>C (p.Thr40Pro)
| |
| 5 | g.173234967C>A | CA447975292 | NKX2-5 | c.117G>T (p.Ala39=)
| gnomAD v4 |
| 5 | g.173234967C= | CA1601617068 | NKX2-5 | c.117G= (p.Ala39=)
| |
| 5 | g.173234967C>G | CA447975293 | NKX2-5 | c.117G>C (p.Ala39=)
| |
| 5 | g.173234967C>T | CA447975294 | NKX2-5 | c.117G>A (p.Ala39=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234968G>A | CA362163655 | NKX2-5 | c.116C>T (p.Ala39Val)
| dbSNP |
| 5 | g.173234968G>C | CA362163656 | NKX2-5 | c.116C>G (p.Ala39Gly)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.173234968G= | CA1601617069 | NKX2-5 | c.116C= (p.Ala39=)
| |
| 5 | g.173234968G>T | CA362163657 | NKX2-5 | c.116C>A (p.Ala39Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234969C>A | CA362163658 | NKX2-5 | c.115G>T (p.Ala39Ser)
| |
| 5 | g.173234969C= | CA1601617070 | NKX2-5 | c.115G= (p.Ala39=)
| |
| 5 | g.173234969C>G | CA362163659 | NKX2-5 | c.115G>C (p.Ala39Pro)
| |
| 5 | g.173234969C>T | CA362163660 | NKX2-5 | c.115G>A (p.Ala39Thr)
| dbSNP |
| 5 | g.173234970C>A | CA362163661 | NKX2-5 | c.114G>T (p.Glu38Asp)
| gnomAD v4 |
| 5 | g.173234970C= | CA1601617071 | NKX2-5 | c.114G= (p.Glu38=)
| |
| 5 | g.173234970C>G | CA362163662 | NKX2-5 | c.114G>C (p.Glu38Asp)
| |
| 5 | g.173234970C>T | CA207696 | NKX2-5 | c.114G>A (p.Glu38=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234971T>A | CA362163663 | NKX2-5 | c.113A>T (p.Glu38Val)
| gnomAD v4 |
| 5 | g.173234971T>C | CA362163665 | NKX2-5 | c.113A>G (p.Glu38Gly)
| |
| 5 | g.173234971T>G | CA362163664 | NKX2-5 | c.113A>C (p.Glu38Ala)
| gnomAD v4 |
| 5 | g.173234972C>A | CA362163666 | NKX2-5 | c.112G>T (p.Glu38Ter)
| |
| 5 | g.173234972C= | CA1601617072 | NKX2-5 | c.112G= (p.Glu38=)
| |
| 5 | g.173234972C>G | CA362163667 | NKX2-5 | c.112G>C (p.Glu38Gln)
| dbSNP |
| 5 | g.173234972C>T | CA362163668 | NKX2-5 | c.112G>A (p.Glu38Lys)
| dbSNP gnomAD v4 |
| 5 | g.173234973del | CA2695205825 | NKX2-5 | c.112del (p.Glu38ArgfsTer?)
| |
| 5 | g.173234973C>A | CA447975297 | NKX2-5 | c.111G>T (p.Leu37=)
| |
| 5 | g.173234973C= | CA1601617073 | NKX2-5 | c.111G= (p.Leu37=)
| |
| 5 | g.173234973C>G | CA447975298 | NKX2-5 | c.111G>C (p.Leu37=)
| |
| 5 | g.173234973C>T | CA3563845 | NKX2-5 | c.111G>A (p.Leu37=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234974A>C | CA362163669 | NKX2-5 | c.110T>G (p.Leu37Arg)
| |
| 5 | g.173234974A>G | CA362163670 | NKX2-5 | c.110T>C (p.Leu37Pro)
| |
| 5 | g.173234974A>T | CA362163671 | NKX2-5 | c.110T>A (p.Leu37Gln)
| |
| 5 | g.173234975G>A | CA447975302 | NKX2-5 | c.109C>T (p.Leu37=)
| |
| 5 | g.173234975G>C | CA362163672 | NKX2-5 | c.109C>G (p.Leu37Val)
| |
| 5 | g.173234975G>T | CA362163673 | NKX2-5 | c.109C>A (p.Leu37Met)
| |
| 5 | g.173234976G>A | CA447975303 | NKX2-5 | c.108C>T (p.Arg36=)
| COSMIC |
| 5 | g.173234976G>C | CA447975304 | NKX2-5 | c.108C>G (p.Arg36=)
| |
| 5 | g.173234976G>T | CA447975305 | NKX2-5 | c.108C>A (p.Arg36=)
| |
| 5 | g.173234977C>A | CA132260470 | NKX2-5 | c.107G>T (p.Arg36Leu)
| dbSNP gnomAD v4 |
| 5 | g.173234977C= | CA1601617074 | NKX2-5 | c.107G= (p.Arg36=)
| |
| 5 | g.173234977C>G | CA362163675 | NKX2-5 | c.107G>C (p.Arg36Pro)
| |
| 5 | g.173234977C>T | CA362163674 | NKX2-5 | c.107G>A (p.Arg36His)
| ClinVar gnomAD v4 |
| 5 | g.173234978G>A | CA362163676 | NKX2-5 | c.106C>T (p.Arg36Cys)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234978G>C | CA362163677 | NKX2-5 | c.106C>G (p.Arg36Gly)
| |
| 5 | g.173234978G= | CA1601617075 | NKX2-5 | c.106C= (p.Arg36=)
| |
| 5 | g.173234978G>T | CA362163678 | NKX2-5 | c.106C>A (p.Arg36Ser)
| |
| 5 | g.173234979G>A | CA447975306 | NKX2-5 | c.105C>T (p.Ala35=)
| gnomAD v4 |
| 5 | g.173234979G>C | CA447975307 | NKX2-5 | c.105C>G (p.Ala35=)
| |
| 5 | g.173234979G= | CA1601617076 | NKX2-5 | c.105C= (p.Ala35=)
| |
| 5 | g.173234979G>T | CA447975308 | NKX2-5 | c.105C>A (p.Ala35=)
| |
| 5 | g.173234979_173234980insCA | CA564904276 | NKX2-5 | c.104_105insTG (p.Arg36AlafsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234980G>A | CA3563846 | NKX2-5 | c.104C>T (p.Ala35Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234980G>C | CA362163679 | NKX2-5 | c.104C>G (p.Ala35Gly)
| |
| 5 | g.173234980G= | CA1601617077 | NKX2-5 | c.104C= (p.Ala35=)
| |
| 5 | g.173234980G>T | CA362163680 | NKX2-5 | c.104C>A (p.Ala35Asp)
| gnomAD v4 |
| 5 | g.173234981C>A | CA362163681 | NKX2-5 | c.103G>T (p.Ala35Ser)
| |
| 5 | g.173234981C>G | CA362163682 | NKX2-5 | c.103G>C (p.Ala35Pro)
| |
| 5 | g.173234981C>T | CA362163683 | NKX2-5 | c.103G>A (p.Ala35Thr)
| ClinVar |
| 5 | g.173234981dup | CA564904277 | NKX2-5 | c.103dup (p.Ala35GlyfsTer?)
| gnomAD v2 gnomAD v4 |
| 5 | g.173234982A>C | CA447975312 | NKX2-5 | c.102T>G (p.Ser34=)
| |
| 5 | g.173234982A>G | CA447975313 | NKX2-5 | c.102T>C (p.Ser34=)
| |
| 5 | g.173234982A>T | CA447975314 | NKX2-5 | c.102T>A (p.Ser34=)
| |
| 5 | g.173234983G>A | CA362163684 | NKX2-5 | c.101C>T (p.Ser34Phe)
| |
| 5 | g.173234983G>C | CA362163685 | NKX2-5 | c.101C>G (p.Ser34Cys)
| |
| 5 | g.173234983G>T | CA362163686 | NKX2-5 | c.101C>A (p.Ser34Tyr)
| |
| 5 | g.173234984A>C | CA362163689 | NKX2-5 | c.100T>G (p.Ser34Ala)
| |
| 5 | g.173234984A>G | CA362163687 | NKX2-5 | c.100T>C (p.Ser34Pro)
| ClinVar |
| 5 | g.173234984A>T | CA362163688 | NKX2-5 | c.100T>A (p.Ser34Thr)
| |
| 5 | g.173234985del | CA2695205826 | NKX2-5 | c.99del (p.Ser34LeufsTer?)
| |
| 5 | g.173234985G>A | CA447975317 | NKX2-5 | c.99C>T (p.Leu33=)
| |
| 5 | g.173234985G>C | CA447975319 | NKX2-5 | c.99C>G (p.Leu33=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.173234985G>T | CA447975320 | NKX2-5 | c.99C>A (p.Leu33=)
| COSMIC |
| 5 | g.173234986A>C | CA362163690 | NKX2-5 | c.98T>G (p.Leu33Arg)
| |
| 5 | g.173234986A>G | CA362163691 | NKX2-5 | c.98T>C (p.Leu33Pro)
| gnomAD v4 |
| 5 | g.173234986A>T | CA362163692 | NKX2-5 | c.98T>A (p.Leu33His)
| |
| 5 | g.173234987G>A | CA132260474 | NKX2-5 | c.97C>T (p.Leu33Phe)
| ClinVar dbSNP |
| 5 | g.173234987G>C | CA362163693 | NKX2-5 | c.97C>G (p.Leu33Val)
| gnomAD v4 |
| 5 | g.173234987G= | CA1601617078 | NKX2-5 | c.97C= (p.Leu33=)
| |
| 5 | g.173234987G>T | CA362163694 | NKX2-5 | c.97C>A (p.Leu33Ile)
| |
| 5 | g.173234988C>A | CA362163695 | NKX2-5 | c.96G>T (p.Glu32Asp)
| gnomAD v4 |
| 5 | g.173234988C= | CA1601617079 | NKX2-5 | c.96G= (p.Glu32=)
| |
| 5 | g.173234988C>G | CA3563847 | NKX2-5 | c.96G>C (p.Glu32Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234988C>T | CA447975324 | NKX2-5 | c.96G>A (p.Glu32=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.173234989T>A | CA362163696 | NKX2-5 | c.95A>T (p.Glu32Val)
| |
| 5 | g.173234989T>C | CA362163697 | NKX2-5 | c.95A>G (p.Glu32Gly)
| |
| 5 | g.173234989T>G | CA362163698 | NKX2-5 | c.95A>C (p.Glu32Ala)
| |
| 5 | g.173234990C>A | CA362163699 | NKX2-5 | c.94G>T (p.Glu32Ter)
| |
| 5 | g.173234990C= | CA1601617080 | NKX2-5 | c.94G= (p.Glu32=)
| |
| 5 | g.173234990C>G | CA362163700 | NKX2-5 | c.94G>C (p.Glu32Gln)
| |
| 5 | g.173234990C>T | CA3563848 | NKX2-5 | c.94G>A (p.Glu32Lys)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.173234991T>A | CA447975327 | NKX2-5 | c.93A>T (p.Gly31=)
| gnomAD v4 |
| 5 | g.173234991T>C | CA447975329 | NKX2-5 | c.93A>G (p.Gly31=)
| |
| 5 | g.173234991T>G | CA447975328 | NKX2-5 | c.93A>C (p.Gly31=)
| |
| 5 | g.173234992C>A | CA3563849 | NKX2-5 | c.92G>T (p.Gly31Val)
| dbSNP ExAC gnomAD v2 |
| 5 | g.173234992C= | CA1601617081 | NKX2-5 | c.92G= (p.Gly31=)
| |
| 5 | g.173234992C>G | CA362163701 | NKX2-5 | c.92G>C (p.Gly31Ala)
| |
| 5 | g.173234992C>T | CA362163702 | NKX2-5 | c.92G>A (p.Gly31Glu)
| |
| 5 | g.173234993C>A | CA362163703 | NKX2-5 | c.91G>T (p.Gly31Ter)
| gnomAD v4 |
| 5 | g.173234993C= | CA1601617082 | NKX2-5 | c.91G= (p.Gly31=)
| |
| 5 | g.173234993C>G | CA362163704 | NKX2-5 | c.91G>C (p.Gly31Arg)
| gnomAD v4 |
| 5 | g.173234993C>T | CA362163705 | NKX2-5 | c.91G>A (p.Gly31Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234993_173235004delinsCGGCGGCAGCCA | CA1601617083 | NKX2-5 | c.80_91delinsTGGCTGCCGCCG (p.Leu27=)
| |
| 5 | g.173234994G>A | CA447975333 | NKX2-5 | c.90C>T (p.Ala30=)
| gnomAD v4 |
| 5 | g.173234994G>C | CA3563851 | NKX2-5 | c.90C>G (p.Ala30=)
| dbSNP ExAC gnomAD v4 |
| 5 | g.173234994G= | CA1601617084 | NKX2-5 | c.90C= (p.Ala30=)
| |
| 5 | g.173234994G>T | CA447975334 | NKX2-5 | c.90C>A (p.Ala30=)
| |
| 5 | g.173234997_173235007del | CA3563850 | NKX2-5 | c.80_90del (p.Leu27ArgfsTer?)
| dbSNP ExAC |
| 5 | g.173234995G>A | CA362163706 | NKX2-5 | c.89C>T (p.Ala30Val)
| |
| 5 | g.173234995G>C | CA362163707 | NKX2-5 | c.89C>G (p.Ala30Gly)
| |
| 5 | g.173234995G= | CA1601617085 | NKX2-5 | c.89C= (p.Ala30=)
| |
| 5 | g.173234995G>T | CA362163708 | NKX2-5 | c.89C>A (p.Ala30Asp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234996del | CA2578487514 | NKX2-5 | c.88del (p.Ala30ProfsTer?)
| |
| 5 | g.173234996C>A | CA362163709 | NKX2-5 | c.88G>T (p.Ala30Ser)
| dbSNP gnomAD v4 COSMIC |
| 5 | g.173234996C= | CA1601617086 | NKX2-5 | c.88G= (p.Ala30=)
| |
| 5 | g.173234996C>G | CA362163710 | NKX2-5 | c.88G>C (p.Ala30Pro)
| |
| 5 | g.173234996C>T | CA362163711 | NKX2-5 | c.88G>A (p.Ala30Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.173234997G>A | CA447975335 | NKX2-5 | c.87C>T (p.Ala29=)
| dbSNP gnomAD v4 |
| 5 | g.173234997G>C | CA447975336 | NKX2-5 | c.87C>G (p.Ala29=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234997G= | CA1601617087 | NKX2-5 | c.87C= (p.Ala29=)
| |
| 5 | g.173234997G>T | CA132260507 | NKX2-5 | c.87C>A (p.Ala29=)
| ClinVar dbSNP |
| 5 | g.173234998G>A | CA362163712 | NKX2-5 | c.86C>T (p.Ala29Val)
| gnomAD v4 |
| 5 | g.173234998G>C | CA362163713 | NKX2-5 | c.86C>G (p.Ala29Gly)
| |
| 5 | g.173234998G>T | CA362163714 | NKX2-5 | c.86C>A (p.Ala29Asp)
| |
| 5 | g.173234999C>A | CA362163715 | NKX2-5 | c.85G>T (p.Ala29Ser)
| |
| 5 | g.173234999C= | CA1601617088 | NKX2-5 | c.85G= (p.Ala29=)
| |
| 5 | g.173234999C>G | CA362163716 | NKX2-5 | c.85G>C (p.Ala29Pro)
| |
| 5 | g.173234999C>T | CA362163717 | NKX2-5 | c.85G>A (p.Ala29Thr)
| ClinVar dbSNP |
| 5 | g.173235000A= | CA1601617089 | NKX2-5 | c.84T= (p.Ala28=)
| |
| 5 | g.173235000A>C | CA447975337 | NKX2-5 | c.84T>G (p.Ala28=)
| |
| 5 | g.173235000A>G | CA447975338 | NKX2-5 | c.84T>C (p.Ala28=)
| |
| 5 | g.173235000A>T | CA447975339 | NKX2-5 | c.84T>A (p.Ala28=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235001G>A | CA362163718 | NKX2-5 | c.83C>T (p.Ala28Val)
| gnomAD v4 |
| 5 | g.173235001G>C | CA362163719 | NKX2-5 | c.83C>G (p.Ala28Gly)
| |
| 5 | g.173235001G>T | CA362163720 | NKX2-5 | c.83C>A (p.Ala28Asp)
| gnomAD v4 |
| 5 | g.173235002C>A | CA362163721 | NKX2-5 | c.82G>T (p.Ala28Ser)
| |
| 5 | g.173235002C= | CA1601617090 | NKX2-5 | c.82G= (p.Ala28=)
| |
| 5 | g.173235002C>G | CA362163722 | NKX2-5 | c.82G>C (p.Ala28Pro)
| |
| 5 | g.173235002C>T | CA362163723 | NKX2-5 | c.82G>A (p.Ala28Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235003C>A | CA447975340 | NKX2-5 | c.81G>T (p.Leu27=)
| |
| 5 | g.173235003C>G | CA447975342 | NKX2-5 | c.81G>C (p.Leu27=)
| |
| 5 | g.173235003C>T | CA447975341 | NKX2-5 | c.81G>A (p.Leu27=)
| |
| 5 | g.173235004A>C | CA362163725 | NKX2-5 | c.80T>G (p.Leu27Arg)
| |
| 5 | g.173235004A>G | CA362163726 | NKX2-5 | c.80T>C (p.Leu27Pro)
| |
| 5 | g.173235004A>T | CA362163724 | NKX2-5 | c.80T>A (p.Leu27Gln)
| |
| 5 | g.173235005G>A | CA447975343 | NKX2-5 | c.79C>T (p.Leu27=)
| |
| 5 | g.173235005G>C | CA362163727 | NKX2-5 | c.79C>G (p.Leu27Val)
| |
| 5 | g.173235005G>T | CA362163728 | NKX2-5 | c.79C>A (p.Leu27Met)
| |
| 5 | g.173235006G>A | CA447975344 | NKX2-5 | c.78C>T (p.Ser26=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.173235006G>C | CA362163729 | NKX2-5 | c.78C>G (p.Ser26Arg)
| ClinVar gnomAD v4 |
| 5 | g.173235006G>T | CA362163730 | NKX2-5 | c.78C>A (p.Ser26Arg)
| gnomAD v4 |
| 5 | g.173235007C>A | CA362163731 | NKX2-5 | c.77G>T (p.Ser26Ile)
| gnomAD v4 |
| 5 | g.173235007C= | CA1601617091 | NKX2-5 | c.77G= (p.Ser26=)
| |
| 5 | g.173235007C>G | CA362163732 | NKX2-5 | c.77G>C (p.Ser26Thr)
| |
| 5 | g.173235007C>T | CA362163733 | NKX2-5 | c.77G>A (p.Ser26Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173235008T>A | CA362163734 | NKX2-5 | c.76A>T (p.Ser26Cys)
| |
| 5 | g.173235008T>C | CA362163736 | NKX2-5 | c.76A>G (p.Ser26Gly)
| |
| 5 | g.173235008T>G | CA362163735 | NKX2-5 | c.76A>C (p.Ser26Arg)
| |
| 5 | g.173235009G>A | CA132260511 | NKX2-5 | c.75C>T (p.Arg25=)
| dbSNP |
| 5 | g.173235009G>C | CA447975345 | NKX2-5 | c.75C>G (p.Arg25=)
| |
| 5 | g.173235009G= | CA1601617093 | NKX2-5 | c.75C= (p.Arg25=)
| |
| 5 | g.173235009G>T | CA447975346 | NKX2-5 | c.75C>A (p.Arg25=)
| |
| 5 | g.173235009_173235010delinsGC | CA1601617092 | NKX2-5 | c.74_75delinsGC (p.Arg25=)
| |
| 5 | g.173235010del | CA3563852 | NKX2-5 | c.74del (p.Arg25ProfsTer?)
| dbSNP ExAC |
| 5 | g.173235010C>A | CA3563853 | NKX2-5 | c.74G>T (p.Arg25Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173235010C= | CA1601617094 | NKX2-5 | c.74G= (p.Arg25=)
| |
| 5 | g.173235010C>G | CA362163737 | NKX2-5 | c.74G>C (p.Arg25Pro)
| gnomAD v4 |
| 5 | g.173235010C>T | CA362163738 | NKX2-5 | c.74G>A (p.Arg25His)
| gnomAD v4 COSMIC |
| 5 | g.173235011G>A | CA120055 | NKX2-5 | c.73C>T (p.Arg25Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235011G>C | CA362163740 | NKX2-5 | c.73C>G (p.Arg25Gly)
| |
| 5 | g.173235011G= | CA1601617096 | NKX2-5 | c.73C= (p.Arg25=)
| |
| 5 | g.173235011G>T | CA362163739 | NKX2-5 | c.73C>A (p.Arg25Ser)
| |
| 5 | g.173235018_173235020dup | CA1601617095 | NKX2-5 | c.71_73dup (p.Gln24_Arg25insGln)
| dbSNP |
| 5 | g.173235012C>A | CA362163741 | NKX2-5 | c.72G>T (p.Gln24His)
| gnomAD v4 COSMIC |
| 5 | g.173235012C>G | CA362163742 | NKX2-5 | c.72G>C (p.Gln24His)
| |
| 5 | g.173235012C>T | CA447975347 | NKX2-5 | c.72G>A (p.Gln24=)
| gnomAD v4 |
| 5 | g.173235013T>A | CA362163743 | NKX2-5 | c.71A>T (p.Gln24Leu)
| gnomAD v4 |
| 5 | g.173235013T>C | CA3563854 | NKX2-5 | c.71A>G (p.Gln24Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173235013T>G | CA362163744 | NKX2-5 | c.71A>C (p.Gln24Pro)
| |
| 5 | g.173235013T= | CA1601617097 | NKX2-5 | c.71A= (p.Gln24=)
| |
| 5 | g.173235014G>A | CA362163745 | NKX2-5 | c.70C>T (p.Gln24Ter)
| gnomAD v4 |
| 5 | g.173235014G>C | CA362163746 | NKX2-5 | c.70C>G (p.Gln24Glu)
| |
| 5 | g.173235014G>T | CA362163747 | NKX2-5 | c.70C>A (p.Gln24Lys)
| |
| 5 | g.173235015C>A | CA362163748 | NKX2-5 | c.69G>T (p.Gln23His)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173235015C= | CA1601617098 | NKX2-5 | c.69G= (p.Gln23=)
| |
| 5 | g.173235015C>G | CA362163749 | NKX2-5 | c.69G>C (p.Gln23His)
| |
| 5 | g.173235015C>T | CA447975348 | NKX2-5 | c.69G>A (p.Gln23=)
| |
| 5 | g.173235016T>A | CA362163750 | NKX2-5 | c.68A>T (p.Gln23Leu)
| |
| 5 | g.173235016T>C | CA362163751 | NKX2-5 | c.68A>G (p.Gln23Arg)
| |
| 5 | g.173235016T>G | CA362163752 | NKX2-5 | c.68A>C (p.Gln23Pro)
| |
| 5 | g.173235017G>A | CA362163754 | NKX2-5 | c.67C>T (p.Gln23Ter)
| |
| 5 | g.173235017G>C | CA362163755 | NKX2-5 | c.67C>G (p.Gln23Glu)
| |
| 5 | g.173235017G= | CA1601617099 | NKX2-5 | c.67C= (p.Gln23=)
| |
| 5 | g.173235017G>T | CA362163753 | NKX2-5 | c.67C>A (p.Gln23Lys)
| dbSNP gnomAD v4 |
| 5 | g.173235018C>A | CA362163756 | NKX2-5 | c.66G>T (p.Gln22His)
| |
| 5 | g.173235018C= | CA1601617100 | NKX2-5 | c.66G= (p.Gln22=)
| |
| 5 | g.173235018C>G | CA362163757 | NKX2-5 | c.66G>C (p.Gln22His)
| |
| 5 | g.173235018C>T | CA447975349 | NKX2-5 | c.66G>A (p.Gln22=)
| |
| 5 | g.173235019T>A | CA362163758 | NKX2-5 | c.65A>T (p.Gln22Leu)
| |
| 5 | g.173235019T>C | CA206627 | NKX2-5 | c.65A>G (p.Gln22Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.173235019T>G | CA132260566 | NKX2-5 | c.65A>C (p.Gln22Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235019T= | CA1601617101 | NKX2-5 | c.65A= (p.Gln22=)
| |
| 5 | g.173235020_173235022dup | CA132260558 | NKX2-5 | c.63_65dup (p.Gln22_Gln23insGln)
| dbSNP |
| 5 | g.173235020_173235022del | CA2676543195 | NKX2-5 | c.63_65del (p.Gln22del)
| gnomAD v4 |
