| 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.173234876_173234877del | CA2676543194 | NKX2-5 | c.211_212del (p.Ala71ArgfsTer?)
| gnomAD v4 |
| 5 | g.173234873C>A | CA362163471 | NKX2-5 | c.211G>T (p.Ala71Ser)
| |
| 5 | g.173234873C= | CA1601617027 | NKX2-5 | c.211G= (p.Ala71=)
| |
| 5 | g.173234873C>G | CA3563828 | NKX2-5 | c.211G>C (p.Ala71Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234873C>T | CA362163472 | NKX2-5 | c.211G>A (p.Ala71Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234874G>A | CA447975128 | NKX2-5 | c.210C>T (p.Arg70=)
| gnomAD v4 |
| 5 | g.173234874G>C | CA3563829 | NKX2-5 | c.210C>G (p.Arg70=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234874G= | CA1601617028 | NKX2-5 | c.210C= (p.Arg70=)
| |
| 5 | g.173234874G>T | CA447975129 | NKX2-5 | c.210C>A (p.Arg70=)
| |
| 5 | g.173234875C>A | CA362163473 | NKX2-5 | c.209G>T (p.Arg70Leu)
| gnomAD v4 |
| 5 | g.173234875C>G | CA362163474 | NKX2-5 | c.209G>C (p.Arg70Pro)
| |
| 5 | g.173234875C>T | CA362163475 | NKX2-5 | c.209G>A (p.Arg70His)
| COSMIC |
| 5 | g.173234876G>A | CA362163478 | NKX2-5 | c.208C>T (p.Arg70Cys)
| dbSNP gnomAD v4 |
| 5 | g.173234876G>C | CA362163477 | NKX2-5 | c.208C>G (p.Arg70Gly)
| |
| 5 | g.173234876G>T | CA362163476 | NKX2-5 | c.208C>A (p.Arg70Ser)
| |
| 5 | g.173234877C>A | CA447975135 | NKX2-5 | c.207G>T (p.Leu69=)
| dbSNP |
| 5 | g.173234877C= | CA1601617029 | NKX2-5 | c.207G= (p.Leu69=)
| |
| 5 | g.173234877C>G | CA447975137 | NKX2-5 | c.207G>C (p.Leu69=)
| |
| 5 | g.173234877C>T | CA3563830 | NKX2-5 | c.207G>A (p.Leu69=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234878A= | CA1601617030 | NKX2-5 | c.206T= (p.Leu69=)
| |
| 5 | g.173234878A>C | CA132260410 | NKX2-5 | c.206T>G (p.Leu69Arg)
| ClinVar dbSNP |
| 5 | g.173234878A>G | CA362163479 | NKX2-5 | c.206T>C (p.Leu69Pro)
| gnomAD v4 |
| 5 | g.173234878A>T | CA362163480 | NKX2-5 | c.206T>A (p.Leu69Gln)
| |
| 5 | g.173234879G>A | CA447975140 | NKX2-5 | c.205C>T (p.Leu69=)
| |
| 5 | g.173234879G>C | CA362163481 | NKX2-5 | c.205C>G (p.Leu69Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234879G= | CA1601617031 | NKX2-5 | c.205C= (p.Leu69=)
| |
| 5 | g.173234879G>T | CA362163482 | NKX2-5 | c.205C>A (p.Leu69Met)
| |
| 5 | g.173234880C>A | CA362163483 | NKX2-5 | c.204G>T (p.Glu68Asp)
| dbSNP |
| 5 | g.173234880C>G | CA362163484 | NKX2-5 | c.204G>C (p.Glu68Asp)
| |
| 5 | g.173234880C>T | CA447975148 | NKX2-5 | c.204G>A (p.Glu68=)
| gnomAD v4 |
| 5 | g.173234881T>A | CA362163485 | NKX2-5 | c.203A>T (p.Glu68Val)
| |
| 5 | g.173234881T>C | CA362163486 | NKX2-5 | c.203A>G (p.Glu68Gly)
| |
| 5 | g.173234881T>G | CA362163487 | NKX2-5 | c.203A>C (p.Glu68Ala)
| |
| 5 | g.173234882C>A | CA362163488 | NKX2-5 | c.202G>T (p.Glu68Ter)
| |
| 5 | g.173234882C>G | CA362163489 | NKX2-5 | c.202G>C (p.Glu68Gln)
| |
| 5 | g.173234882C>T | CA362163490 | NKX2-5 | c.202G>A (p.Glu68Lys)
| gnomAD v4 |
| 5 | g.173234883T>A | CA447975155 | NKX2-5 | c.201A>T (p.Pro67=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234883T>C | CA447975159 | NKX2-5 | c.201A>G (p.Pro67=)
| |
| 5 | g.173234883T>G | CA447975157 | NKX2-5 | c.201A>C (p.Pro67=)
| |
| 5 | g.173234883T= | CA1601617032 | NKX2-5 | c.201A= (p.Pro67=)
| |
| 5 | g.173234884G>A | CA362163493 | NKX2-5 | c.200C>T (p.Pro67Leu)
| ClinVar dbSNP |
| 5 | g.173234884G>C | CA362163491 | NKX2-5 | c.200C>G (p.Pro67Arg)
| |
| 5 | g.173234884G>T | CA362163492 | NKX2-5 | c.200C>A (p.Pro67Gln)
| gnomAD v4 |
| 5 | g.173234885G>A | CA362163494 | NKX2-5 | c.199C>T (p.Pro67Ser)
| ClinVar |
| 5 | g.173234885G>C | CA362163495 | NKX2-5 | c.199C>G (p.Pro67Ala)
| ClinVar |
| 5 | g.173234885G>T | CA362163496 | NKX2-5 | c.199C>A (p.Pro67Thr)
| |
| 5 | g.173234886G>A | CA447975166 | NKX2-5 | c.198C>T (p.Leu66=)
| |
| 5 | g.173234886G>C | CA447975167 | NKX2-5 | c.198C>G (p.Leu66=)
| |
| 5 | g.173234886G>T | CA447975168 | NKX2-5 | c.198C>A (p.Leu66=)
| |
| 5 | g.173234887A>C | CA362163497 | NKX2-5 | c.197T>G (p.Leu66Arg)
| |
| 5 | g.173234887A>G | CA362163498 | NKX2-5 | c.197T>C (p.Leu66Pro)
| |
| 5 | g.173234887A>T | CA362163499 | NKX2-5 | c.197T>A (p.Leu66His)
| |
| 5 | g.173234888G>A | CA362163500 | NKX2-5 | c.196C>T (p.Leu66Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234888G>C | CA362163501 | NKX2-5 | c.196C>G (p.Leu66Val)
| |
| 5 | g.173234888G= | CA1601617033 | NKX2-5 | c.196C= (p.Leu66=)
| |
| 5 | g.173234888G>T | CA362163502 | NKX2-5 | c.196C>A (p.Leu66Ile)
| |
| 5 | g.173234889G>A | CA447975170 | NKX2-5 | c.195C>T (p.Gly65=)
| gnomAD v4 |
| 5 | g.173234889G>C | CA447975172 | NKX2-5 | c.195C>G (p.Gly65=)
| |
| 5 | g.173234889G>T | CA447975173 | NKX2-5 | c.195C>A (p.Gly65=)
| |
| 5 | g.173234890C>A | CA362163503 | NKX2-5 | c.194G>T (p.Gly65Val)
| |
| 5 | g.173234890C>G | CA362163504 | NKX2-5 | c.194G>C (p.Gly65Ala)
| gnomAD v4 |
| 5 | g.173234890C>T | CA362163505 | NKX2-5 | c.194G>A (p.Gly65Asp)
| |
| 5 | g.173234891C>A | CA362163508 | NKX2-5 | c.193G>T (p.Gly65Cys)
| |
| 5 | g.173234891C>G | CA362163507 | NKX2-5 | c.193G>C (p.Gly65Arg)
| |
| 5 | g.173234891C>T | CA362163506 | NKX2-5 | c.193G>A (p.Gly65Ser)
| |
| 5 | g.173234892C>A | CA447975174 | NKX2-5 | c.192G>T (p.Pro64=)
| gnomAD v4 |
| 5 | g.173234892C= | CA1601617034 | NKX2-5 | c.192G= (p.Pro64=)
| |
| 5 | g.173234892C>G | CA447975175 | NKX2-5 | c.192G>C (p.Pro64=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234892C>T | CA447975176 | NKX2-5 | c.192G>A (p.Pro64=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.173234893G>A | CA362163510 | NKX2-5 | c.191C>T (p.Pro64Leu)
| gnomAD v4 |
| 5 | g.173234893G>C | CA3563831 | NKX2-5 | c.191C>G (p.Pro64Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234893G= | CA1601617035 | NKX2-5 | c.191C= (p.Pro64=)
| |
| 5 | g.173234893G>T | CA362163509 | NKX2-5 | c.191C>A (p.Pro64Gln)
| |
| 5 | g.173234894G>A | CA362163511 | NKX2-5 | c.190C>T (p.Pro64Ser)
| |
| 5 | g.173234894G>C | CA362163512 | NKX2-5 | c.190C>G (p.Pro64Ala)
| |
| 5 | g.173234894G>T | CA362163513 | NKX2-5 | c.190C>A (p.Pro64Thr)
| |
| 5 | g.173234895C>A | CA447975179 | NKX2-5 | c.189G>T (p.Ala63=)
| gnomAD v4 |
| 5 | g.173234895C= | CA1601617036 | NKX2-5 | c.189G= (p.Ala63=)
| |
| 5 | g.173234895C>G | CA132260416 | NKX2-5 | c.189G>C (p.Ala63=)
| dbSNP |
| 5 | g.173234895C>T | CA447975181 | NKX2-5 | c.189G>A (p.Ala63=)
| ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.173234896G>A | CA3563832 | NKX2-5 | c.188C>T (p.Ala63Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234896G>C | CA362163514 | NKX2-5 | c.188C>G (p.Ala63Gly)
| |
| 5 | g.173234896G= | CA1601617037 | NKX2-5 | c.188C= (p.Ala63=)
| |
| 5 | g.173234896G>T | CA3563833 | NKX2-5 | c.188C>A (p.Ala63Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234897C>A | CA362163515 | NKX2-5 | c.187G>T (p.Ala63Ser)
| COSMIC |
| 5 | g.173234897C= | CA1601617038 | NKX2-5 | c.187G= (p.Ala63=)
| |
| 5 | g.173234897C>G | CA362163516 | NKX2-5 | c.187G>C (p.Ala63Pro)
| |
| 5 | g.173234897C>T | CA3563834 | NKX2-5 | c.187G>A (p.Ala63Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234898A>C | CA447975185 | NKX2-5 | c.186T>G (p.Ala62=)
| |
| 5 | g.173234898A>G | CA447975186 | NKX2-5 | c.186T>C (p.Ala62=)
| |
| 5 | g.173234898A>T | CA447975188 | NKX2-5 | c.186T>A (p.Ala62=)
| |
| 5 | g.173234900_173234919dup | CA2573139450 | NKX2-5 | c.167_186dup (p.Ala63ThrfsTer?)
| ClinVar dbSNP |
| 5 | g.173234899G>A | CA362163519 | NKX2-5 | c.185C>T (p.Ala62Val)
| |
| 5 | g.173234899G>C | CA362163518 | NKX2-5 | c.185C>G (p.Ala62Gly)
| |
| 5 | g.173234899G>T | CA362163517 | NKX2-5 | c.185C>A (p.Ala62Asp)
| |
| 5 | g.173234900C>A | CA362163520 | NKX2-5 | c.184G>T (p.Ala62Ser)
| gnomAD v4 |
| 5 | g.173234900C>G | CA362163521 | NKX2-5 | c.184G>C (p.Ala62Pro)
| |
| 5 | g.173234900C>T | CA362163522 | NKX2-5 | c.184G>A (p.Ala62Thr)
| gnomAD v4 |
| 5 | g.173234901C>A | CA447975194 | NKX2-5 | c.183G>T (p.Ala61=)
| gnomAD v4 |
| 5 | g.173234901C= | CA1601617039 | NKX2-5 | c.183G= (p.Ala61=)
| |
| 5 | g.173234901C>G | CA3563835 | NKX2-5 | c.183G>C (p.Ala61=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234901C>T | CA447975195 | NKX2-5 | c.183G>A (p.Ala61=)
| COSMIC |
| 5 | g.173234902G>A | CA362163523 | NKX2-5 | c.182C>T (p.Ala61Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234902G>C | CA279938 | NKX2-5 | c.182C>G (p.Ala61Gly)
| ClinVar dbSNP |
| 5 | g.173234902G= | CA1601617040 | NKX2-5 | c.182C= (p.Ala61=)
| |
| 5 | g.173234902G>T | CA362163524 | NKX2-5 | c.182C>A (p.Ala61Glu)
| |
| 5 | g.173234903C>A | CA362163525 | NKX2-5 | c.181G>T (p.Ala61Ser)
| |
| 5 | g.173234903C>G | CA362163526 | NKX2-5 | c.181G>C (p.Ala61Pro)
| |
| 5 | g.173234903C>T | CA362163527 | NKX2-5 | c.181G>A (p.Ala61Thr)
| |
| 5 | g.173234904C>A | CA362163528 | NKX2-5 | c.180G>T (p.Glu60Asp)
| |
| 5 | g.173234904C= | CA1601617041 | NKX2-5 | c.180G= (p.Glu60=)
| |
| 5 | g.173234904C>G | CA362163529 | NKX2-5 | c.180G>C (p.Glu60Asp)
| |
| 5 | g.173234904C>T | CA3563836 | NKX2-5 | c.180G>A (p.Glu60=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234905T>A | CA362163531 | NKX2-5 | c.179A>T (p.Glu60Val)
| |
| 5 | g.173234905T>C | CA362163532 | NKX2-5 | c.179A>G (p.Glu60Gly)
| |
| 5 | g.173234905T>G | CA362163530 | NKX2-5 | c.179A>C (p.Glu60Ala)
| |
| 5 | g.173234906C>A | CA362163533 | NKX2-5 | c.178G>T (p.Glu60Ter)
| |
| 5 | g.173234906C= | CA1601617042 | NKX2-5 | c.178G= (p.Glu60=)
| |
| 5 | g.173234906C>G | CA3563837 | NKX2-5 | c.178G>C (p.Glu60Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234906C>T | CA362163534 | NKX2-5 | c.178G>A (p.Glu60Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234907G>A | CA447975204 | NKX2-5 | c.177C>T (p.Pro59=)
| gnomAD v4 |
| 5 | g.173234907G>C | CA447975203 | NKX2-5 | c.177C>G (p.Pro59=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234907G= | CA1601617043 | NKX2-5 | c.177C= (p.Pro59=)
| |
| 5 | g.173234907G>T | CA447975201 | NKX2-5 | c.177C>A (p.Pro59=)
| ClinVar |
| 5 | g.173234908G>A | CA362163535 | NKX2-5 | c.176C>T (p.Pro59Leu)
| |
| 5 | g.173234908G>C | CA362163537 | NKX2-5 | c.176C>G (p.Pro59Arg)
| |
| 5 | g.173234908G>T | CA362163536 | NKX2-5 | c.176C>A (p.Pro59His)
| |
| 5 | g.173234909G>A | CA362163538 | NKX2-5 | c.175C>T (p.Pro59Ser)
| |
| 5 | g.173234909G>C | CA212680 | NKX2-5 | c.175C>G (p.Pro59Ala)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.173234909G= | CA1601617044 | NKX2-5 | c.175C= (p.Pro59=)
| |
| 5 | g.173234909G>T | CA362163539 | NKX2-5 | c.175C>A (p.Pro59Thr)
| gnomAD v4 |
| 5 | g.173234910C>A | CA447975207 | NKX2-5 | c.174G>T (p.Gly58=)
| |
| 5 | g.173234910C>G | CA447975209 | NKX2-5 | c.174G>C (p.Gly58=)
| |
| 5 | g.173234910C>T | CA447975208 | NKX2-5 | c.174G>A (p.Gly58=)
| |
| 5 | g.173234911C>A | CA132260438 | NKX2-5 | c.173G>T (p.Gly58Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234911C= | CA1601617045 | NKX2-5 | c.173G= (p.Gly58=)
| |
| 5 | g.173234911C>G | CA362163540 | NKX2-5 | c.173G>C (p.Gly58Ala)
| |
| 5 | g.173234911C>T | CA362163541 | NKX2-5 | c.173G>A (p.Gly58Glu)
| |
| 5 | g.173234912C>A | CA362163542 | NKX2-5 | c.172G>T (p.Gly58Trp)
| dbSNP |
| 5 | g.173234912C>G | CA362163543 | NKX2-5 | c.172G>C (p.Gly58Arg)
| |
| 5 | g.173234912C>T | CA362163544 | NKX2-5 | c.172G>A (p.Gly58Arg)
| gnomAD v4 |
| 5 | g.173234913A>C | CA447975212 | NKX2-5 | c.171T>G (p.Ala57=)
| |
| 5 | g.173234913A>G | CA447975214 | NKX2-5 | c.171T>C (p.Ala57=)
| |
| 5 | g.173234913A>T | CA447975216 | NKX2-5 | c.171T>A (p.Ala57=)
| |
| 5 | g.173234914G>A | CA362163545 | NKX2-5 | c.170C>T (p.Ala57Val)
| dbSNP |
| 5 | g.173234914G>C | CA362163546 | NKX2-5 | c.170C>G (p.Ala57Gly)
| |
| 5 | g.173234914G= | CA1601617046 | NKX2-5 | c.170C= (p.Ala57=)
| |
| 5 | g.173234914G>T | CA362163547 | NKX2-5 | c.170C>A (p.Ala57Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234915C>A | CA3563838 | NKX2-5 | c.169G>T (p.Ala57Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234915C= | CA1601617047 | NKX2-5 | c.169G= (p.Ala57=)
| |
| 5 | g.173234915C>G | CA132260439 | NKX2-5 | c.169G>C (p.Ala57Pro)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234915C>T | CA362163548 | NKX2-5 | c.169G>A (p.Ala57Thr)
| gnomAD v4 |
| 5 | g.173234916G>A | CA3563839 | NKX2-5 | c.168C>T (p.Tyr56=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234916G>C | CA362163549 | NKX2-5 | c.168C>G (p.Tyr56Ter)
| ClinVar |
| 5 | g.173234916G= | CA1601617048 | NKX2-5 | c.168C= (p.Tyr56=)
| |
| 5 | g.173234916G>T | CA362163550 | NKX2-5 | c.168C>A (p.Tyr56Ter)
| |
| 5 | g.173234917T>A | CA362163551 | NKX2-5 | c.167A>T (p.Tyr56Phe)
| gnomAD v4 |
| 5 | g.173234917T>C | CA362163552 | NKX2-5 | c.167A>G (p.Tyr56Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234917T>G | CA362163553 | NKX2-5 | c.167A>C (p.Tyr56Ser)
| |
| 5 | g.173234917T= | CA1601617049 | NKX2-5 | c.167A= (p.Tyr56=)
| |
| 5 | g.173234918A>C | CA362163554 | NKX2-5 | c.166T>G (p.Tyr56Asp)
| |
| 5 | g.173234918A>G | CA362163555 | NKX2-5 | c.166T>C (p.Tyr56His)
| gnomAD v4 |
| 5 | g.173234918A>T | CA362163556 | NKX2-5 | c.166T>A (p.Tyr56Asn)
| |
| 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 |
