| 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.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 |
| 5 | g.173235020G>A | CA362163760 | NKX2-5 | c.64C>T (p.Gln22Ter)
| |
| 5 | g.173235020G>C | CA3563855 | NKX2-5 | c.64C>G (p.Gln22Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173235020G= | CA1601617102 | NKX2-5 | c.64C= (p.Gln22=)
| |
| 5 | g.173235020G>T | CA362163759 | NKX2-5 | c.64C>A (p.Gln22Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235020_173235021insC | CA2676543196 | NKX2-5 | c.63_64insG (p.Gln22AlafsTer?)
| gnomAD v4 |
| 5 | g.173235021T>A | CA362163761 | NKX2-5 | c.63A>T (p.Glu21Asp)
| dbSNP |
| 5 | g.173235021T>C | CA282476 | NKX2-5 | c.63A>G (p.Glu21=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235021T>G | CA362163762 | NKX2-5 | c.63A>C (p.Glu21Asp)
| dbSNP |
| 5 | g.173235021T= | CA1601617103 | NKX2-5 | c.63A= (p.Glu21=)
| |
| 5 | g.173235022del | CA2676543197 | NKX2-5 | c.63del (p.Glu21AspfsTer?)
| gnomAD v4 |
| 5 | g.173235021_173235022insCC | CA2676543198 | NKX2-5 | c.62_63insGG (p.Gln22AspfsTer?)
| gnomAD v4 |
| 5 | g.173235021_173235022insGC | CA2676543199 | NKX2-5 | c.62_63insGC (p.Gln22HisfsTer?)
| gnomAD v4 |
| 5 | g.173235022T>A | CA362163763 | NKX2-5 | c.62A>T (p.Glu21Val)
| |
| 5 | g.173235022T>C | CA362163764 | NKX2-5 | c.62A>G (p.Glu21Gly)
| |
| 5 | g.173235022T>G | CA362163765 | NKX2-5 | c.62A>C (p.Glu21Ala)
| |
| 5 | g.173235023C>A | CA362163767 | NKX2-5 | c.61G>T (p.Glu21Ter)
| |
| 5 | g.173235023C= | CA1601617104 | NKX2-5 | c.61G= (p.Glu21=)
| |
| 5 | g.173235023C>G | CA214394 | NKX2-5 | c.61G>C (p.Glu21Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235023C>T | CA362163766 | NKX2-5 | c.61G>A (p.Glu21Lys)
| |
| 5 | g.173235024C>A | CA447975350 | NKX2-5 | c.60G>T (p.Leu20=)
| |
| 5 | g.173235024C= | CA1601617105 | NKX2-5 | c.60G= (p.Leu20=)
| |
| 5 | g.173235024C>G | CA3563856 | NKX2-5 | c.60G>C (p.Leu20=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235024C>T | CA447975351 | NKX2-5 | c.60G>A (p.Leu20=)
| |
| 5 | g.173235025A= | CA1601617106 | NKX2-5 | c.59T= (p.Leu20=)
| |
| 5 | g.173235025A>C | CA362163768 | NKX2-5 | c.59T>G (p.Leu20Arg)
| |
| 5 | g.173235025A>G | CA362163769 | NKX2-5 | c.59T>C (p.Leu20Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173235025A>T | CA362163770 | NKX2-5 | c.59T>A (p.Leu20Gln)
| |
| 5 | g.173235026G>A | CA447975352 | NKX2-5 | c.58C>T (p.Leu20=)
| |
| 5 | g.173235026G>C | CA362163771 | NKX2-5 | c.58C>G (p.Leu20Val)
| |
| 5 | g.173235026G>T | CA362163772 | NKX2-5 | c.58C>A (p.Leu20Met)
| gnomAD v4 |
| 5 | g.173235027G>A | CA447975353 | NKX2-5 | c.57C>T (p.Asn19=)
| gnomAD v4 |
| 5 | g.173235027G>C | CA362163774 | NKX2-5 | c.57C>G (p.Asn19Lys)
| |
| 5 | g.173235027G>T | CA362163773 | NKX2-5 | c.57C>A (p.Asn19Lys)
| |
| 5 | g.173235028T>A | CA362163775 | NKX2-5 | c.56A>T (p.Asn19Ile)
| |
| 5 | g.173235028T>C | CA362163776 | NKX2-5 | c.56A>G (p.Asn19Ser)
| |
| 5 | g.173235028T>G | CA362163777 | NKX2-5 | c.56A>C (p.Asn19Thr)
| |
| 5 | g.173235029T>A | CA362163778 | NKX2-5 | c.55A>T (p.Asn19Tyr)
| |
| 5 | g.173235029T>C | CA362163779 | NKX2-5 | c.55A>G (p.Asn19Asp)
| |
| 5 | g.173235029T>G | CA362163780 | NKX2-5 | c.55A>C (p.Asn19His)
| |
| 5 | g.173235030T>A | CA447975354 | NKX2-5 | c.54A>T (p.Leu18=)
| |
| 5 | g.173235030T>C | CA447975355 | NKX2-5 | c.54A>G (p.Leu18=)
| |
| 5 | g.173235030T>G | CA447975356 | NKX2-5 | c.54A>C (p.Leu18=)
| |
| 5 | g.173235031A>C | CA362163781 | NKX2-5 | c.53T>G (p.Leu18Arg)
| |
| 5 | g.173235031A>G | CA362163783 | NKX2-5 | c.53T>C (p.Leu18Pro)
| |
| 5 | g.173235031A>T | CA362163782 | NKX2-5 | c.53T>A (p.Leu18Gln)
| |
| 5 | g.173235032G>A | CA447975357 | NKX2-5 | c.52C>T (p.Leu18=)
| |
| 5 | g.173235032G>C | CA362163784 | NKX2-5 | c.52C>G (p.Leu18Val)
| |
| 5 | g.173235032G>T | CA362163785 | NKX2-5 | c.52C>A (p.Leu18Ile)
| |
| 5 | g.173235033G>A | CA447975358 | NKX2-5 | c.51C>T (p.Ile17=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173235033G>C | CA362163786 | NKX2-5 | c.51C>G (p.Ile17Met)
| |
| 5 | g.173235033G= | CA1601617107 | NKX2-5 | c.51C= (p.Ile17=)
| |
| 5 | g.173235033G>T | CA447975359 | NKX2-5 | c.51C>A (p.Ile17=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173235034A>C | CA362163787 | NKX2-5 | c.50T>G (p.Ile17Ser)
| |
| 5 | g.173235034A>G | CA362163788 | NKX2-5 | c.50T>C (p.Ile17Thr)
| |
| 5 | g.173235034A>T | CA362163789 | NKX2-5 | c.50T>A (p.Ile17Asn)
| |
| 5 | g.173235035T>A | CA362163792 | NKX2-5 | c.49A>T (p.Ile17Phe)
| |
| 5 | g.173235035T>C | CA362163790 | NKX2-5 | c.49A>G (p.Ile17Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173235035T>G | CA362163791 | NKX2-5 | c.49A>C (p.Ile17Leu)
| |
| 5 | g.173235035T= | CA1601617108 | NKX2-5 | c.49A= (p.Ile17=)
| |
| 5 | g.173235036G>A | CA447975360 | NKX2-5 | c.48C>T (p.Asp16=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235036G>C | CA362163793 | NKX2-5 | c.48C>G (p.Asp16Glu)
| |
| 5 | g.173235036G= | CA1601617109 | NKX2-5 | c.48C= (p.Asp16=)
| |
| 5 | g.173235036G>T | CA362163794 | NKX2-5 | c.48C>A (p.Asp16Glu)
| |
| 5 | g.173235037T>A | CA362163795 | NKX2-5 | c.47A>T (p.Asp16Val)
| |
| 5 | g.173235037T>C | CA362163796 | NKX2-5 | c.47A>G (p.Asp16Gly)
| |
| 5 | g.173235037T>G | CA132260599 | NKX2-5 | c.47A>C (p.Asp16Ala)
| dbSNP |
| 5 | g.173235037T= | CA1601617110 | NKX2-5 | c.47A= (p.Asp16=)
| |
| 5 | g.173235038C>A | CA362163797 | NKX2-5 | c.46G>T (p.Asp16Tyr)
| |
| 5 | g.173235038C= | CA1601617111 | NKX2-5 | c.46G= (p.Asp16=)
| |
| 5 | g.173235038C>G | CA362163798 | NKX2-5 | c.46G>C (p.Asp16His)
| |
| 5 | g.173235038C>T | CA3563857 | NKX2-5 | c.46G>A (p.Asp16Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173235039T>A | CA362163799 | NKX2-5 | c.45A>T (p.Lys15Asn)
| gnomAD v4 |
| 5 | g.173235039T>C | CA447975361 | NKX2-5 | c.45A>G (p.Lys15=)
| gnomAD v4 COSMIC |
| 5 | g.173235039T>G | CA362163800 | NKX2-5 | c.45A>C (p.Lys15Asn)
| gnomAD v4 |
| 5 | g.173235040T>A | CA212677 | NKX2-5 | c.44A>T (p.Lys15Ile)
| ClinVar dbSNP |
| 5 | g.173235040T>C | CA362163801 | NKX2-5 | c.44A>G (p.Lys15Arg)
| |
| 5 | g.173235040T>G | CA362163802 | NKX2-5 | c.44A>C (p.Lys15Thr)
| |
| 5 | g.173235040T= | CA1601617113 | NKX2-5 | c.44A= (p.Lys15=)
| |
| 5 | g.173235040_173235044delinsTTGAC | CA1601617112 | NKX2-5 | c.40_44delinsGTCAA (p.Val14=)
| |
| 5 | g.173235041T>A | CA362163803 | NKX2-5 | c.43A>T (p.Lys15Ter)
| |
| 5 | g.173235041T>C | CA362163804 | NKX2-5 | c.43A>G (p.Lys15Glu)
| |
| 5 | g.173235041T>G | CA362163805 | NKX2-5 | c.43A>C (p.Lys15Gln)
| |
| 5 | g.173235044_173235047del | CA564904278 | NKX2-5 | c.40_43del (p.Val14LysfsTer4)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235042G>A | CA447975362 | NKX2-5 | c.42C>T (p.Val14=)
| |
| 5 | g.173235042G>C | CA447975363 | NKX2-5 | c.42C>G (p.Val14=)
| |
| 5 | g.173235042G>T | CA447975364 | NKX2-5 | c.42C>A (p.Val14=)
| gnomAD v4 |
| 5 | g.173235043A>C | CA362163806 | NKX2-5 | c.41T>G (p.Val14Gly)
| |
| 5 | g.173235043A>G | CA362163807 | NKX2-5 | c.41T>C (p.Val14Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173235043A>T | CA362163808 | NKX2-5 | c.41T>A (p.Val14Asp)
| |
| 5 | g.173235044C>A | CA362163809 | NKX2-5 | c.40G>T (p.Val14Phe)
| |
| 5 | g.173235044C>G | CA362163811 | NKX2-5 | c.40G>C (p.Val14Leu)
| |
| 5 | g.173235044C>T | CA362163810 | NKX2-5 | c.40G>A (p.Val14Ile)
| gnomAD v4 |
| 5 | g.173235045T>A | CA447975365 | NKX2-5 | c.39A>T (p.Ser13=)
| |
| 5 | g.173235045T>C | CA447975366 | NKX2-5 | c.39A>G (p.Ser13=)
| dbSNP |
| 5 | g.173235045T>G | CA447975367 | NKX2-5 | c.39A>C (p.Ser13=)
| |
| 5 | g.173235045T= | CA1601617114 | NKX2-5 | c.39A= (p.Ser13=)
| |
| 5 | g.173235046G>A | CA362163812 | NKX2-5 | c.38C>T (p.Ser13Leu)
| gnomAD v4 |
| 5 | g.173235046G>C | CA362163814 | NKX2-5 | c.38C>G (p.Ser13Ter)
| |
| 5 | g.173235046G>T | CA362163813 | NKX2-5 | c.38C>A (p.Ser13Ter)
| |
| 5 | g.173235047A>C | CA362163815 | NKX2-5 | c.37T>G (p.Ser13Ala)
| |
| 5 | g.173235047A>G | CA362163816 | NKX2-5 | c.37T>C (p.Ser13Pro)
| |
| 5 | g.173235047A>T | CA362163817 | NKX2-5 | c.37T>A (p.Ser13Thr)
| |
| 5 | g.173235048G>A | CA3563858 | NKX2-5 | c.36C>T (p.Phe12=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173235048G>C | CA362163818 | NKX2-5 | c.36C>G (p.Phe12Leu)
| |
| 5 | g.173235048G= | CA1601617115 | NKX2-5 | c.36C= (p.Phe12=)
| |
| 5 | g.173235048G>T | CA362163819 | NKX2-5 | c.36C>A (p.Phe12Leu)
| |
| 5 | g.173235049A= | CA1601617116 | NKX2-5 | c.35T= (p.Phe12=)
| |
| 5 | g.173235049A>C | CA362163820 | NKX2-5 | c.35T>G (p.Phe12Cys)
| |
| 5 | g.173235049A>G | CA362163821 | NKX2-5 | c.35T>C (p.Phe12Ser)
| ClinVar dbSNP |
| 5 | g.173235049A>T | CA362163822 | NKX2-5 | c.35T>A (p.Phe12Tyr)
| |
| 5 | g.173235050A= | CA1601617117 | NKX2-5 | c.34T= (p.Phe12=)
| |
| 5 | g.173235050A>C | CA362163823 | NKX2-5 | c.34T>G (p.Phe12Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173235050A>G | CA362163824 | NKX2-5 | c.34T>C (p.Phe12Leu)
| |
| 5 | g.173235050A>T | CA362163825 | NKX2-5 | c.34T>A (p.Phe12Ile)
| |
| 5 | g.173235051G>A | CA447975368 | NKX2-5 | c.33C>T (p.Pro11=)
| dbSNP gnomAD v4 |
| 5 | g.173235051G>C | CA447975369 | NKX2-5 | c.33C>G (p.Pro11=)
| |
| 5 | g.173235051G= | CA1601617118 | NKX2-5 | c.33C= (p.Pro11=)
| |
| 5 | g.173235051G>T | CA447975370 | NKX2-5 | c.33C>A (p.Pro11=)
| |
| 5 | g.173235052G>A | CA362163826 | NKX2-5 | c.32C>T (p.Pro11Leu)
| gnomAD v4 |
| 5 | g.173235052G>C | CA362163828 | NKX2-5 | c.32C>G (p.Pro11Arg)
| |
| 5 | g.173235052G>T | CA362163827 | NKX2-5 | c.32C>A (p.Pro11His)
| |
| 5 | g.173235053G>A | CA362163829 | NKX2-5 | c.31C>T (p.Pro11Ser)
| |
| 5 | g.173235053G>C | CA362163830 | NKX2-5 | c.31C>G (p.Pro11Ala)
| |
| 5 | g.173235053G>T | CA362163831 | NKX2-5 | c.31C>A (p.Pro11Thr)
| gnomAD v4 |
| 5 | g.173235054C>A | CA447975371 | NKX2-5 | c.30G>T (p.Thr10=)
| |
| 5 | g.173235054C= | CA1601617119 | NKX2-5 | c.30G= (p.Thr10=)
| |
| 5 | g.173235054C>G | CA447975372 | NKX2-5 | c.30G>C (p.Thr10=)
| |
| 5 | g.173235054C>T | CA3563859 | NKX2-5 | c.30G>A (p.Thr10=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235055G>A | CA362163832 | NKX2-5 | c.29C>T (p.Thr10Met)
| |
| 5 | g.173235055G>C | CA362163833 | NKX2-5 | c.29C>G (p.Thr10Arg)
| gnomAD v4 |
| 5 | g.173235055G>T | CA362163834 | NKX2-5 | c.29C>A (p.Thr10Lys)
| |
| 5 | g.173235056T>A | CA362163835 | NKX2-5 | c.28A>T (p.Thr10Ser)
| |
| 5 | g.173235056T>C | CA362163836 | NKX2-5 | c.28A>G (p.Thr10Ala)
| |
| 5 | g.173235056T>G | CA362163837 | NKX2-5 | c.28A>C (p.Thr10Pro)
| |
| 5 | g.173235056dup | CA2676543200 | NKX2-5 | c.28dup (p.Thr10AsnfsTer?)
| gnomAD v4 |
| 5 | g.173235057G>A | CA447975373 | NKX2-5 | c.27C>T (p.Pro9=)
| |
| 5 | g.173235057G>C | CA447975374 | NKX2-5 | c.27C>G (p.Pro9=)
| |
| 5 | g.173235057G>T | CA447975375 | NKX2-5 | c.27C>A (p.Pro9=)
| gnomAD v4 |
| 5 | g.173235058G>A | CA362163839 | NKX2-5 | c.26C>T (p.Pro9Leu)
| |
| 5 | g.173235058G>C | CA362163840 | NKX2-5 | c.26C>G (p.Pro9Arg)
| |
| 5 | g.173235058G>T | CA362163838 | NKX2-5 | c.26C>A (p.Pro9His)
| |
| 5 | g.173235059G>A | CA362163841 | NKX2-5 | c.25C>T (p.Pro9Ser)
| |
| 5 | g.173235059G>C | CA362163842 | NKX2-5 | c.25C>G (p.Pro9Ala)
| |
| 5 | g.173235059G>T | CA362163843 | NKX2-5 | c.25C>A (p.Pro9Thr)
| |
| 5 | g.173235060C>A | CA447975376 | NKX2-5 | c.24G>T (p.Thr8=)
| |
| 5 | g.173235060C= | CA1601617120 | NKX2-5 | c.24G= (p.Thr8=)
| |
| 5 | g.173235060C>G | CA447975377 | NKX2-5 | c.24G>C (p.Thr8=)
| |
| 5 | g.173235060C>T | CA3563860 | NKX2-5 | c.24G>A (p.Thr8=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235061G>A | CA3563861 | NKX2-5 | c.23C>T (p.Thr8Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235061G>C | CA362163844 | NKX2-5 | c.23C>G (p.Thr8Arg)
| ClinVar |
| 5 | g.173235061G= | CA1601617121 | NKX2-5 | c.23C= (p.Thr8=)
| |
| 5 | g.173235061G>T | CA362163845 | NKX2-5 | c.23C>A (p.Thr8Lys)
| |
| 5 | g.173235062T>A | CA362163846 | NKX2-5 | c.22A>T (p.Thr8Ser)
| |
| 5 | g.173235062T>C | CA362163848 | NKX2-5 | c.22A>G (p.Thr8Ala)
| dbSNP gnomAD v2 |
| 5 | g.173235062T>G | CA362163847 | NKX2-5 | c.22A>C (p.Thr8Pro)
| |
| 5 | g.173235062T= | CA1601617122 | NKX2-5 | c.22A= (p.Thr8=)
| |
