Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.173234748_173235311delinsACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGGCAGCTTCCCTGCATGGTGCCGCCGCCCGCCCGCGCACCCGTCGGCCAGCTCTGGATGTGTCCGGGCAGCAGGTAGCGCTGAGCACAAGGGGCAGGAGAGGCGGGACCAGGCCAGAGGAGGGGGACTCAGCCTGCCATTGGGCCAGGGGCCTCGATGACAGGAG | CA1601616961 | NKX2-5 | c.-228_334+2delinsCTCCTGTCATCGAGGCCCCTGGCCCAATGGCAGGCTGAGTCCCCCTCCTCTGGCCTGGTCCCGCCTCTCCTGCCCCTTGTGCTCAGCGCTACCTGCTGCCCGGACACATCCAGAGCTGGCCGACGGGTGCGCGGGCGGGCGGCGGCACCATGCAGGGAAGCTGCCAGGGGCCGTGGGCAGCGCCGCTTTCTGCCGCCCACCTGGCGCTGTGAGACTGGCGCTGCCACCATGTTCCCCAGCCCTGCTCTCACGCCCACGCCCTTCTCAGTCAAAGACATCCTAAACCTGGAACAGCAGCAGCGCAGCCTGGCTGCCGCCGGAGAGCTCTCTGCCCGCCTGGAGGCGACCCTGGCGCCCTCCTCCTGCATGCTGGCCGCCTTCAAGCCAGAGGCCTACGCTGGGCCCGAGGCGGCTGCGCCGGGCCTCCCAGAGCTGCGCGCAGAGCTGGGCCGCGCGCCTTCACCGGCCAAGTGTGCGTCTGCCTTTCCCGCCGCCCCCGCCTTCTATCCACGTGCCTACAGCGACCCCGACCCAGCCAAGGACCCTAGAGCCGAAAAGAAAGGT | |
5 | g.173234750_173235312del | CA915942752 | NKX2-5 | c.-228_334+1del | ClinVar dbSNP |
5 | g.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) | 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) | gnomAD v4 |