| 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.173234825del | CA2499217780 | NKX2-5 | c.261del (p.Ala88ProfsTer?)
| ClinVar dbSNP |
| 5 | g.173234824G>A | CA362163374 | NKX2-5 | c.260C>T (p.Pro87Leu)
| gnomAD v4 |
| 5 | g.173234824G>C | CA362163375 | NKX2-5 | c.260C>G (p.Pro87Arg)
| |
| 5 | g.173234824G>T | CA362163376 | NKX2-5 | c.260C>A (p.Pro87His)
| gnomAD v4 |
| 5 | g.173234825G>A | CA362163377 | NKX2-5 | c.259C>T (p.Pro87Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234825G>C | CA362163378 | NKX2-5 | c.259C>G (p.Pro87Ala)
| |
| 5 | g.173234825G= | CA1601616996 | NKX2-5 | c.259C= (p.Pro87=)
| |
| 5 | g.173234825G>T | CA362163379 | NKX2-5 | c.259C>A (p.Pro87Thr)
| |
| 5 | g.173234826A>C | CA362163380 | NKX2-5 | c.258T>G (p.Phe86Leu)
| |
| 5 | g.173234826A>G | CA447975270 | NKX2-5 | c.258T>C (p.Phe86=)
| |
| 5 | g.173234826A>T | CA362163381 | NKX2-5 | c.258T>A (p.Phe86Leu)
| |
| 5 | g.173234828del | CA2676543122 | NKX2-5 | c.258del (p.Ala88ProfsTer?)
| gnomAD v4 |
| 5 | g.173234827A= | CA1601616997 | NKX2-5 | c.257T= (p.Phe86=)
| |
| 5 | g.173234827A>C | CA362163382 | NKX2-5 | c.257T>G (p.Phe86Cys)
| |
| 5 | g.173234827A>G | CA3563815 | NKX2-5 | c.257T>C (p.Phe86Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234827A>T | CA362163383 | NKX2-5 | c.257T>A (p.Phe86Tyr)
| |
| 5 | g.173234828A>C | CA362163386 | NKX2-5 | c.256T>G (p.Phe86Val)
| |
| 5 | g.173234828A>G | CA362163384 | NKX2-5 | c.256T>C (p.Phe86Leu)
| gnomAD v4 |
| 5 | g.173234828A>T | CA362163385 | NKX2-5 | c.256T>A (p.Phe86Ile)
| gnomAD v4 |
| 5 | g.173234828_173234829del | CA2695205822 | NKX2-5 | c.255_256del (p.Phe86SerfsTer21)
| |
| 5 | g.173234830_173234833dup | CA2573139447 | NKX2-5 | c.253_256dup (p.Phe86CysfsTer23)
| ClinVar dbSNP |
| 5 | g.173234829G>A | CA447975275 | NKX2-5 | c.255C>T (p.Ala85=)
| dbSNP |
| 5 | g.173234829G>C | CA447975276 | NKX2-5 | c.255C>G (p.Ala85=)
| |
| 5 | g.173234829G= | CA1601616998 | NKX2-5 | c.255C= (p.Ala85=)
| |
| 5 | g.173234829G>T | CA447975277 | NKX2-5 | c.255C>A (p.Ala85=)
| COSMIC |
| 5 | g.173234830G>A | CA362163387 | NKX2-5 | c.254C>T (p.Ala85Val)
| gnomAD v4 |
| 5 | g.173234830G>C | CA362163388 | NKX2-5 | c.254C>G (p.Ala85Gly)
| |
| 5 | g.173234830G>T | CA362163389 | NKX2-5 | c.254C>A (p.Ala85Asp)
| gnomAD v4 |
| 5 | g.173234831C>A | CA362163390 | NKX2-5 | c.253G>T (p.Ala85Ser)
| gnomAD v4 |
| 5 | g.173234831C>G | CA362163391 | NKX2-5 | c.253G>C (p.Ala85Pro)
| |
| 5 | g.173234831C>T | CA362163392 | NKX2-5 | c.253G>A (p.Ala85Thr)
| gnomAD v4 |
| 5 | g.173234832A= | CA1601616999 | NKX2-5 | c.252T= (p.Ser84=)
| |
| 5 | g.173234832A>C | CA447975280 | NKX2-5 | c.252T>G (p.Ser84=)
| |
| 5 | g.173234832A>G | CA3563816 | NKX2-5 | c.252T>C (p.Ser84=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234832A>T | CA447975281 | NKX2-5 | c.252T>A (p.Ser84=)
| |
| 5 | g.173234833G>A | CA362163393 | NKX2-5 | c.251C>T (p.Ser84Phe)
| gnomAD v4 |
| 5 | g.173234833G>C | CA3563817 | NKX2-5 | c.251C>G (p.Ser84Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234833G= | CA1601617000 | NKX2-5 | c.251C= (p.Ser84=)
| |
| 5 | g.173234833G>T | CA362163394 | NKX2-5 | c.251C>A (p.Ser84Tyr)
| |
| 5 | g.173234834A>C | CA362163397 | NKX2-5 | c.250T>G (p.Ser84Ala)
| |
| 5 | g.173234834A>G | CA362163396 | NKX2-5 | c.250T>C (p.Ser84Pro)
| |
| 5 | g.173234834A>T | CA362163395 | NKX2-5 | c.250T>A (p.Ser84Thr)
| |
| 5 | g.173234835C>A | CA447975285 | NKX2-5 | c.249G>T (p.Ala83=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.173234835C= | CA1601617001 | NKX2-5 | c.249G= (p.Ala83=)
| |
| 5 | g.173234835C>G | CA447975286 | NKX2-5 | c.249G>C (p.Ala83=)
| |
| 5 | g.173234835C>T | CA447975287 | NKX2-5 | c.249G>A (p.Ala83=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234836G>A | CA362163398 | NKX2-5 | c.248C>T (p.Ala83Val)
| ClinVar gnomAD v4 COSMIC |
| 5 | g.173234836G>C | CA362163399 | NKX2-5 | c.248C>G (p.Ala83Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234836G= | CA1601617002 | NKX2-5 | c.248C= (p.Ala83=)
| |
| 5 | g.173234836G>T | CA362163400 | NKX2-5 | c.248C>A (p.Ala83Glu)
| gnomAD v4 |
| 5 | g.173234837C>A | CA362163401 | NKX2-5 | c.247G>T (p.Ala83Ser)
| gnomAD v4 |
| 5 | g.173234837C= | CA1601617003 | NKX2-5 | c.247G= (p.Ala83=)
| |
| 5 | g.173234837C>G | CA362163402 | NKX2-5 | c.247G>C (p.Ala83Pro)
| |
| 5 | g.173234837C>T | CA3563818 | NKX2-5 | c.247G>A (p.Ala83Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234838A= | CA1601617004 | NKX2-5 | c.246T= (p.Cys82=)
| |
| 5 | g.173234838A>C | CA362163403 | NKX2-5 | c.246T>G (p.Cys82Trp)
| |
| 5 | g.173234838A>G | CA447975295 | NKX2-5 | c.246T>C (p.Cys82=)
| ClinVar dbSNP |
| 5 | g.173234838A>T | CA362163404 | NKX2-5 | c.246T>A (p.Cys82Ter)
| |
| 5 | g.173234838dup | CA1139659257 | NKX2-5 | c.246dup (p.Ala83CysfsTer25)
| ClinVar dbSNP |
| 5 | g.173234839C>A | CA362163405 | NKX2-5 | c.245G>T (p.Cys82Phe)
| |
| 5 | g.173234839C= | CA1601617005 | NKX2-5 | c.245G= (p.Cys82=)
| |
| 5 | g.173234839C>G | CA362163406 | NKX2-5 | c.245G>C (p.Cys82Ser)
| gnomAD v4 |
| 5 | g.173234839C>T | CA362163407 | NKX2-5 | c.245G>A (p.Cys82Tyr)
| ClinVar dbSNP |
| 5 | g.173234840A= | CA1601617006 | NKX2-5 | c.244T= (p.Cys82=)
| |
| 5 | g.173234840A>C | CA362163408 | NKX2-5 | c.244T>G (p.Cys82Gly)
| |
| 5 | g.173234840A>G | CA362163409 | NKX2-5 | c.244T>C (p.Cys82Arg)
| |
| 5 | g.173234840A>T | CA3563819 | NKX2-5 | c.244T>A (p.Cys82Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234841C>A | CA362163410 | NKX2-5 | c.243G>T (p.Lys81Asn)
| gnomAD v4 |
| 5 | g.173234841C= | CA1601617007 | NKX2-5 | c.243G= (p.Lys81=)
| |
| 5 | g.173234841C>G | CA362163411 | NKX2-5 | c.243G>C (p.Lys81Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234841C>T | CA447975296 | NKX2-5 | c.243G>A (p.Lys81=)
| |
| 5 | g.173234842T>A | CA362163412 | NKX2-5 | c.242A>T (p.Lys81Met)
| |
| 5 | g.173234842T>C | CA362163413 | NKX2-5 | c.242A>G (p.Lys81Arg)
| |
| 5 | g.173234842T>G | CA362163414 | NKX2-5 | c.242A>C (p.Lys81Thr)
| |
| 5 | g.173234843del | CA2695205823 | NKX2-5 | c.242del (p.Lys81SerfsTer?)
| |
| 5 | g.173234843T>A | CA362163415 | NKX2-5 | c.241A>T (p.Lys81Ter)
| |
| 5 | g.173234843T>C | CA132260367 | NKX2-5 | c.241A>G (p.Lys81Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234843T>G | CA362163416 | NKX2-5 | c.241A>C (p.Lys81Gln)
| |
| 5 | g.173234843T= | CA1601617008 | NKX2-5 | c.241A= (p.Lys81=)
| |
| 5 | g.173234844G>A | CA447975299 | NKX2-5 | c.240C>T (p.Ala80=)
| dbSNP gnomAD v4 |
| 5 | g.173234844G>C | CA447975300 | NKX2-5 | c.240C>G (p.Ala80=)
| gnomAD v4 |
| 5 | g.173234844G= | CA1601617009 | NKX2-5 | c.240C= (p.Ala80=)
| |
| 5 | g.173234844G>T | CA447975301 | NKX2-5 | c.240C>A (p.Ala80=)
| |
| 5 | g.173234845G>A | CA362163417 | NKX2-5 | c.239C>T (p.Ala80Val)
| dbSNP |
| 5 | g.173234845G>C | CA362163418 | NKX2-5 | c.239C>G (p.Ala80Gly)
| |
| 5 | g.173234845G>T | CA362163419 | NKX2-5 | c.239C>A (p.Ala80Asp)
| |
| 5 | g.173234846C>A | CA362163420 | NKX2-5 | c.238G>T (p.Ala80Ser)
| ClinVar gnomAD v4 |
| 5 | g.173234846C= | CA1601617010 | NKX2-5 | c.238G= (p.Ala80=)
| |
| 5 | g.173234846C>G | CA362163421 | NKX2-5 | c.238G>C (p.Ala80Pro)
| |
| 5 | g.173234846C>T | CA362163422 | NKX2-5 | c.238G>A (p.Ala80Thr)
| dbSNP gnomAD v4 |
| 5 | g.173234847C>A | CA3563820 | NKX2-5 | c.237G>T (p.Pro79=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234847C= | CA1601617011 | NKX2-5 | c.237G= (p.Pro79=)
| |
| 5 | g.173234847C>G | CA214177 | NKX2-5 | c.237G>C (p.Pro79=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234847C>T | CA214175 | NKX2-5 | c.237G>A (p.Pro79=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234848G>A | CA362163423 | NKX2-5 | c.236C>T (p.Pro79Leu)
| gnomAD v4 |
| 5 | g.173234848G>C | CA3563821 | NKX2-5 | c.236C>G (p.Pro79Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234848G= | CA1601617012 | NKX2-5 | c.236C= (p.Pro79=)
| |
| 5 | g.173234848G>T | CA362163424 | NKX2-5 | c.236C>A (p.Pro79Gln)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.173234849G>A | CA362163425 | NKX2-5 | c.235C>T (p.Pro79Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234849G>C | CA362163426 | NKX2-5 | c.235C>G (p.Pro79Ala)
| |
| 5 | g.173234849G= | CA1601617013 | NKX2-5 | c.235C= (p.Pro79=)
| |
| 5 | g.173234849G>T | CA362163427 | NKX2-5 | c.235C>A (p.Pro79Thr)
| |
| 5 | g.173234849_173234850insA | CA3563822 | NKX2-5 | c.234_235insT (p.Pro79SerfsTer29)
| dbSNP ExAC |
| 5 | g.173234850T>A | CA447975309 | NKX2-5 | c.234A>T (p.Ser78=)
| ClinVar dbSNP |
| 5 | g.173234850T>C | CA447975310 | NKX2-5 | c.234A>G (p.Ser78=)
| |
| 5 | g.173234850T>G | CA447975311 | NKX2-5 | c.234A>C (p.Ser78=)
| |
| 5 | g.173234851G>A | CA362163428 | NKX2-5 | c.233C>T (p.Ser78Leu)
| dbSNP |
| 5 | g.173234851G>C | CA362163429 | NKX2-5 | c.233C>G (p.Ser78Ter)
| |
| 5 | g.173234851G= | CA1601617014 | NKX2-5 | c.233C= (p.Ser78=)
| |
| 5 | g.173234851G>T | CA362163430 | NKX2-5 | c.233C>A (p.Ser78Ter)
| |
| 5 | g.173234853_173234854insCAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAA | CA3563823 | NKX2-5 | c.233_234insCTTAATTTTGAGATAAGACCGTCCCTAGCAGTGAGGCCTCGGCCTCTGTTC (p.Ser79LeufsTer5)
| ExAC |
| 5 | g.173234852A= | CA1601617015 | NKX2-5 | c.232T= (p.Ser78=)
| |
| 5 | g.173234852A>C | CA362163431 | NKX2-5 | c.232T>G (p.Ser78Ala)
| |
| 5 | g.173234852A>G | CA3563824 | NKX2-5 | c.232T>C (p.Ser78Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234852A>T | CA362163432 | NKX2-5 | c.232T>A (p.Ser78Thr)
| |
| 5 | g.173234853A>C | CA447975315 | NKX2-5 | c.231T>G (p.Pro77=)
| |
| 5 | g.173234853A>G | CA447975318 | NKX2-5 | c.231T>C (p.Pro77=)
| gnomAD v4 |
| 5 | g.173234853A>T | CA447975316 | NKX2-5 | c.231T>A (p.Pro77=)
| |
| 5 | g.173234854G>A | CA362163433 | NKX2-5 | c.230C>T (p.Pro77Leu)
| gnomAD v4 |
| 5 | g.173234854G>C | CA362163434 | NKX2-5 | c.230C>G (p.Pro77Arg)
| |
| 5 | g.173234854G>T | CA362163435 | NKX2-5 | c.230C>A (p.Pro77His)
| |
| 5 | g.173234855del | CA2573139448 | NKX2-5 | c.230del (p.Pro77LeufsTer?)
| ClinVar dbSNP |
| 5 | g.173234854_173234856delinsGGC | CA1601617016 | NKX2-5 | c.228_230delinsGCC (p.Ala76=)
| |
| 5 | g.173234855G>A | CA3563825 | NKX2-5 | c.229C>T (p.Pro77Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234855G>C | CA362163437 | NKX2-5 | c.229C>G (p.Pro77Ala)
| |
| 5 | g.173234855G= | CA1601617017 | NKX2-5 | c.229C= (p.Pro77=)
| |
| 5 | g.173234855G>T | CA362163436 | NKX2-5 | c.229C>A (p.Pro77Thr)
| |
| 5 | g.173234860_173234861del | CA212911 | NKX2-5 | c.228_229del (p.Pro77PhefsTer?)
| ClinVar dbSNP |
| 5 | g.173234856C>A | CA447975321 | NKX2-5 | c.228G>T (p.Ala76=)
| gnomAD v4 |
| 5 | g.173234856C>G | CA447975322 | NKX2-5 | c.228G>C (p.Ala76=)
| |
| 5 | g.173234856C>T | CA447975323 | NKX2-5 | c.228G>A (p.Ala76=)
| gnomAD v4 |
| 5 | g.173234857G>A | CA362163438 | NKX2-5 | c.227C>T (p.Ala76Val)
| gnomAD v4 |
| 5 | g.173234857G>C | CA362163439 | NKX2-5 | c.227C>G (p.Ala76Gly)
| dbSNP |
| 5 | g.173234857G= | CA1601617018 | NKX2-5 | c.227C= (p.Ala76=)
| |
| 5 | g.173234857G>T | CA362163440 | NKX2-5 | c.227C>A (p.Ala76Glu)
| ClinVar |
| 5 | g.173234858C>A | CA362163441 | NKX2-5 | c.226G>T (p.Ala76Ser)
| gnomAD v4 |
| 5 | g.173234858C>G | CA362163442 | NKX2-5 | c.226G>C (p.Ala76Pro)
| gnomAD v4 |
| 5 | g.173234858C>T | CA362163443 | NKX2-5 | c.226G>A (p.Ala76Thr)
| gnomAD v4 |
| 5 | g.173234859G>A | CA3563826 | NKX2-5 | c.225C>T (p.Arg75=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234859G>C | CA447975325 | NKX2-5 | c.225C>G (p.Arg75=)
| |
| 5 | g.173234859G= | CA1601617019 | NKX2-5 | c.225C= (p.Arg75=)
| |
| 5 | g.173234859G>T | CA447975326 | NKX2-5 | c.225C>A (p.Arg75=)
| |
| 5 | g.173234860C>A | CA362163444 | NKX2-5 | c.224G>T (p.Arg75Leu)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.173234860C= | CA1601617020 | NKX2-5 | c.224G= (p.Arg75=)
| |
| 5 | g.173234860C>G | CA362163445 | NKX2-5 | c.224G>C (p.Arg75Pro)
| |
| 5 | g.173234860C>T | CA362163446 | NKX2-5 | c.224G>A (p.Arg75His)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.173234861G>A | CA362163449 | NKX2-5 | c.223C>T (p.Arg75Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234861G>C | CA362163448 | NKX2-5 | c.223C>G (p.Arg75Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234861G= | CA1601617021 | NKX2-5 | c.223C= (p.Arg75=)
| |
| 5 | g.173234861G>T | CA362163447 | NKX2-5 | c.223C>A (p.Arg75Ser)
| gnomAD v4 |
| 5 | g.173234862G>A | CA447975332 | NKX2-5 | c.222C>T (p.Gly74=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234862G>C | CA447975331 | NKX2-5 | c.222C>G (p.Gly74=)
| |
| 5 | g.173234862G= | CA1601617023 | NKX2-5 | c.222C= (p.Gly74=)
| |
| 5 | g.173234862G>T | CA447975330 | NKX2-5 | c.222C>A (p.Gly74=)
| |
| 5 | g.173234862_173234869delinsGCCCAGCT | CA1601617022 | NKX2-5 | c.215_222delinsAGCTGGGC (p.Glu72=)
| |
| 5 | g.173234863C>A | CA362163451 | NKX2-5 | c.221G>T (p.Gly74Val)
| |
| 5 | g.173234863C= | CA1601617024 | NKX2-5 | c.221G= (p.Gly74=)
| |
| 5 | g.173234863C>G | CA362163450 | NKX2-5 | c.221G>C (p.Gly74Ala)
| |
| 5 | g.173234863C>T | CA3563827 | NKX2-5 | c.221G>A (p.Gly74Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234864_173234870del | CA212910 | NKX2-5 | c.215_221del (p.Glu72AlafsTer?)
| ClinVar dbSNP |
| 5 | g.173234864C>A | CA362163452 | NKX2-5 | c.220G>T (p.Gly74Cys)
| |
| 5 | g.173234864C>G | CA362163453 | NKX2-5 | c.220G>C (p.Gly74Arg)
| gnomAD v4 |
| 5 | g.173234864C>T | CA362163454 | NKX2-5 | c.220G>A (p.Gly74Ser)
| |
| 5 | g.173234865C>A | CA447975104 | NKX2-5 | c.219G>T (p.Leu73=)
| |
| 5 | g.173234865C= | CA1601617025 | NKX2-5 | c.219G= (p.Leu73=)
| |
| 5 | g.173234865C>G | CA447975106 | NKX2-5 | c.219G>C (p.Leu73=)
| |
| 5 | g.173234865C>T | CA447975108 | NKX2-5 | c.219G>A (p.Leu73=)
| dbSNP |
| 5 | g.173234866A>C | CA362163455 | NKX2-5 | c.218T>G (p.Leu73Arg)
| |
| 5 | g.173234866A>G | CA362163456 | NKX2-5 | c.218T>C (p.Leu73Pro)
| |
| 5 | g.173234866A>T | CA362163457 | NKX2-5 | c.218T>A (p.Leu73Gln)
| |
| 5 | g.173234867G>A | CA447975111 | NKX2-5 | c.217C>T (p.Leu73=)
| ClinVar dbSNP |
| 5 | g.173234867G>C | CA362163458 | NKX2-5 | c.217C>G (p.Leu73Val)
| |
| 5 | g.173234867G= | CA1601617026 | NKX2-5 | c.217C= (p.Leu73=)
| |
| 5 | g.173234867G>T | CA362163459 | NKX2-5 | c.217C>A (p.Leu73Met)
| |
| 5 | g.173234868C>A | CA362163460 | NKX2-5 | c.216G>T (p.Glu72Asp)
| |
| 5 | g.173234868C>G | CA362163461 | NKX2-5 | c.216G>C (p.Glu72Asp)
| |
| 5 | g.173234868C>T | CA447975115 | NKX2-5 | c.216G>A (p.Glu72=)
| |
| 5 | g.173234869T>A | CA362163464 | NKX2-5 | c.215A>T (p.Glu72Val)
| |
| 5 | g.173234869T>C | CA362163462 | NKX2-5 | c.215A>G (p.Glu72Gly)
| |
| 5 | g.173234869T>G | CA362163463 | NKX2-5 | c.215A>C (p.Glu72Ala)
| |
| 5 | g.173234870C>A | CA362163465 | NKX2-5 | c.214G>T (p.Glu72Ter)
| |
| 5 | g.173234870C>G | CA362163466 | NKX2-5 | c.214G>C (p.Glu72Gln)
| |
| 5 | g.173234870C>T | CA362163467 | NKX2-5 | c.214G>A (p.Glu72Lys)
| |
| 5 | g.173234871T>A | CA447975119 | NKX2-5 | c.213A>T (p.Ala71=)
| |
| 5 | g.173234871T>C | CA447975120 | NKX2-5 | c.213A>G (p.Ala71=)
| |
| 5 | g.173234871T>G | CA447975122 | NKX2-5 | c.213A>C (p.Ala71=)
| |
| 5 | g.173234872del | CA2573139449 | NKX2-5 | c.212del (p.Ala71GlufsTer?)
| ClinVar dbSNP |
| 5 | g.173234872G>A | CA362163468 | NKX2-5 | c.212C>T (p.Ala71Val)
| |
| 5 | g.173234872G>C | CA362163469 | NKX2-5 | c.212C>G (p.Ala71Gly)
| gnomAD v4 |
| 5 | g.173234872G>T | CA362163470 | NKX2-5 | c.212C>A (p.Ala71Glu)
| |
| 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 |
