| 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.173235023C>A | CA362163767 | NKX2-5 | c.61G>T (p.Glu21Ter) | |
| 5 | g.173235023C= | CA1601617104 | NKX2-5 | c.61G= (p.Glu21=) | |
| 5 | g.173235023C>G | CA214394 | NKX2-5 | c.61G>C (p.Glu21Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235023C>T | CA362163766 | NKX2-5 | c.61G>A (p.Glu21Lys) | |
| 5 | g.173235024C>A | CA447975350 | NKX2-5 | c.60G>T (p.Leu20=) | |
| 5 | g.173235024C= | CA1601617105 | NKX2-5 | c.60G= (p.Leu20=) | |
| 5 | g.173235024C>G | CA3563856 | NKX2-5 | c.60G>C (p.Leu20=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235024C>T | CA447975351 | NKX2-5 | c.60G>A (p.Leu20=) | |
| 5 | g.173235025A= | CA1601617106 | NKX2-5 | c.59T= (p.Leu20=) | |
| 5 | g.173235025A>C | CA362163768 | NKX2-5 | c.59T>G (p.Leu20Arg) | |
| 5 | g.173235025A>G | CA362163769 | NKX2-5 | c.59T>C (p.Leu20Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173235025A>T | CA362163770 | NKX2-5 | c.59T>A (p.Leu20Gln) | |
| 5 | g.173235026G>A | CA447975352 | NKX2-5 | c.58C>T (p.Leu20=) | |
| 5 | g.173235026G>C | CA362163771 | NKX2-5 | c.58C>G (p.Leu20Val) | |
| 5 | g.173235026G>T | CA362163772 | NKX2-5 | c.58C>A (p.Leu20Met) | gnomAD v4 |
| 5 | g.173235027G>A | CA447975353 | NKX2-5 | c.57C>T (p.Asn19=) | gnomAD v4 |
| 5 | g.173235027G>C | CA362163774 | NKX2-5 | c.57C>G (p.Asn19Lys) | |
| 5 | g.173235027G>T | CA362163773 | NKX2-5 | c.57C>A (p.Asn19Lys) | |
| 5 | g.173235028T>A | CA362163775 | NKX2-5 | c.56A>T (p.Asn19Ile) | |
| 5 | g.173235028T>C | CA362163776 | NKX2-5 | c.56A>G (p.Asn19Ser) | |
| 5 | g.173235028T>G | CA362163777 | NKX2-5 | c.56A>C (p.Asn19Thr) | |
| 5 | g.173235029T>A | CA362163778 | NKX2-5 | c.55A>T (p.Asn19Tyr) | |
| 5 | g.173235029T>C | CA362163779 | NKX2-5 | c.55A>G (p.Asn19Asp) | |
| 5 | g.173235029T>G | CA362163780 | NKX2-5 | c.55A>C (p.Asn19His) | |
| 5 | g.173235030T>A | CA447975354 | NKX2-5 | c.54A>T (p.Leu18=) | |
| 5 | g.173235030T>C | CA447975355 | NKX2-5 | c.54A>G (p.Leu18=) | |
| 5 | g.173235030T>G | CA447975356 | NKX2-5 | c.54A>C (p.Leu18=) | |
| 5 | g.173235031A>C | CA362163781 | NKX2-5 | c.53T>G (p.Leu18Arg) | |
| 5 | g.173235031A>G | CA362163783 | NKX2-5 | c.53T>C (p.Leu18Pro) | |
| 5 | g.173235031A>T | CA362163782 | NKX2-5 | c.53T>A (p.Leu18Gln) | |
| 5 | g.173235032G>A | CA447975357 | NKX2-5 | c.52C>T (p.Leu18=) | |
| 5 | g.173235032G>C | CA362163784 | NKX2-5 | c.52C>G (p.Leu18Val) | |
| 5 | g.173235032G>T | CA362163785 | NKX2-5 | c.52C>A (p.Leu18Ile) | |
| 5 | g.173235033G>A | CA447975358 | NKX2-5 | c.51C>T (p.Ile17=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173235033G>C | CA362163786 | NKX2-5 | c.51C>G (p.Ile17Met) | |
| 5 | g.173235033G= | CA1601617107 | NKX2-5 | c.51C= (p.Ile17=) | |
| 5 | g.173235033G>T | CA447975359 | NKX2-5 | c.51C>A (p.Ile17=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173235034A>C | CA362163787 | NKX2-5 | c.50T>G (p.Ile17Ser) | |
| 5 | g.173235034A>G | CA362163788 | NKX2-5 | c.50T>C (p.Ile17Thr) | |
| 5 | g.173235034A>T | CA362163789 | NKX2-5 | c.50T>A (p.Ile17Asn) | |
| 5 | g.173235035T>A | CA362163792 | NKX2-5 | c.49A>T (p.Ile17Phe) | |
| 5 | g.173235035T>C | CA362163790 | NKX2-5 | c.49A>G (p.Ile17Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173235035T>G | CA362163791 | NKX2-5 | c.49A>C (p.Ile17Leu) | |
| 5 | g.173235035T= | CA1601617108 | NKX2-5 | c.49A= (p.Ile17=) | |
| 5 | g.173235036G>A | CA447975360 | NKX2-5 | c.48C>T (p.Asp16=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235036G>C | CA362163793 | NKX2-5 | c.48C>G (p.Asp16Glu) | |
| 5 | g.173235036G= | CA1601617109 | NKX2-5 | c.48C= (p.Asp16=) | |
| 5 | g.173235036G>T | CA362163794 | NKX2-5 | c.48C>A (p.Asp16Glu) |