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.173234821G>A | CA362163368 | NKX2-5 | c.263C>T (p.Ala88Val) | gnomAD v4 |
5 | g.173234821G>C | CA362163370 | NKX2-5 | c.263C>G (p.Ala88Gly) | |
5 | g.173234821G>T | CA362163369 | NKX2-5 | c.263C>A (p.Ala88Asp) | gnomAD v4 |
5 | g.173234821_173234822delinsGC | CA1601616993 | NKX2-5 | c.262_263delinsGC (p.Ala88=) | |
5 | g.173234822del | CA212912 | NKX2-5 | c.262del (p.Ala88ProfsTer?) | ClinVar dbSNP |
5 | g.173234822C>A | CA362163371 | NKX2-5 | c.262G>T (p.Ala88Ser) | gnomAD v4 |
5 | g.173234822C= | CA1601616994 | NKX2-5 | c.262G= (p.Ala88=) | |
5 | g.173234822C>G | CA362163372 | NKX2-5 | c.262G>C (p.Ala88Pro) | gnomAD v4 |
5 | g.173234822C>T | CA362163373 | NKX2-5 | c.262G>A (p.Ala88Thr) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.173234823G>A | CA132260352 | NKX2-5 | c.261C>T (p.Pro87=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.173234823G>C | CA447975265 | NKX2-5 | c.261C>G (p.Pro87=) | |
5 | g.173234823G= | CA1601616995 | NKX2-5 | c.261C= (p.Pro87=) | |
5 | g.173234823G>T | CA447975267 | NKX2-5 | c.261C>A (p.Pro87=) | |
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=) |