| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.173234825dup | CA2985062486 | NKX2-5 | c.261dup (p.Ala88ArgfsTer20) | |
| 5 | g.173234825del | CA2499217780 | NKX2-5 | c.261del (p.Ala88ProfsTer?) | ClinVar dbSNP |
| 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.173234831del | CA2838208423 | NKX2-5 | c.253del (p.Ala85ProfsTer?) | |
| 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 |