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.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) |