| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.168293110_168293111delinsCT | CA1205614115 | TBX19 | c.469-34_469-33delinsCT (n.469-34_469-33delinsCT) c.266-34_266-33delinsCT | |
| 1 | g.168293114dup | CA2649007495 | TBX19 | c.469-30dup (n.469-30dup) c.266-30dup | gnomAD v4 |
| 1 | g.168293114del | CA1230506 | TBX19 | c.469-30del (n.469-30del) c.266-30del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.168293114T>G | CA31493242 | TBX19 | c.469-30T>G (n.469-30T>G) c.266-30T>G | dbSNP |
| 1 | g.168293114T= | CA1143539565 | TBX19 | c.469-30T= (n.469-30T=) c.266-30T= | |
| 1 | g.168293115del | CA2649007496 | TBX19 | c.469-29del (n.469-29del) c.266-29del | gnomAD v4 |
| 1 | g.168293117C= | CA1205614117 | TBX19 | c.469-27C= (n.469-27C=) c.266-27C= | |
| 1 | g.168293117C>T | CA527130741 | TBX19 | c.469-27C>T (n.469-27C>T) c.266-27C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293117_168293119delinsCCT | CA1205614116 | TBX19 | c.469-27_469-25delinsCCT (n.469-27_469-25delinsCCT) c.266-27_266-25delinsCCT | |
| 1 | g.168293118C>A | CA2649007497 | TBX19 | c.469-26C>A (n.469-26C>A) c.266-26C>A | gnomAD v4 |
| 1 | g.168293120_168293121del | CA1230507 | TBX19 | c.469-24_469-23del (n.469-24_469-23del) c.266-24_266-23del | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.168293120C>T | CA2649007498 | TBX19 | c.469-24C>T (n.469-24C>T) c.266-24C>T | gnomAD v4 |
| 1 | g.168293124C>T | CA2649007499 | TBX19 | c.469-20C>T (n.469-20C>T) c.266-20C>T | gnomAD v4 |
| 1 | g.168293126C= | CA1205614118 | TBX19 | c.469-18C= (n.469-18C=) c.266-18C= | |
| 1 | g.168293126C>T | CA1008886532 | TBX19 | c.469-18C>T (n.469-18C>T) c.266-18C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293127T>C | CA2649007500 | TBX19 | c.469-17T>C (n.469-17T>C) c.266-17T>C | gnomAD v4 |
| 1 | g.168293127T>G | CA527130751 | TBX19 | c.469-17T>G (n.469-17T>G) c.266-17T>G | dbSNP gnomAD v2 |
| 1 | g.168293127T= | CA1205614119 | TBX19 | c.469-17T= (n.469-17T=) c.266-17T= | |
| 1 | g.168293128T>C | CA2649007501 | TBX19 | c.469-16T>C (n.469-16T>C) c.266-16T>C | gnomAD v4 |
| 1 | g.168293128_168293131delinsTCTC | CA1205614120 | TBX19 | c.469-16_469-13delinsTCTC (n.469-16_469-13delinsTCTC) c.266-16_266-13delinsTCTC | |
| 1 | g.168293131_168293133del | CA527130752 | TBX19 | c.469-13_469-11del (n.469-13_469-11del) c.266-13_266-11del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293135C= | CA1205614121 | TBX19 | c.469-9C= (n.469-9C=) c.266-9C= | |
| 1 | g.168293135C>T | CA1205614122 | TBX19 | c.469-9C>T (n.469-9C>T) c.266-9C>T | dbSNP |
| 1 | g.168293137T>A | CA1230508 | TBX19 | c.469-7T>A (n.469-7T>A) c.266-7T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293137T= | CA1143841682 | TBX19 | c.469-7T= (n.469-7T=) c.266-7T= | |
| 1 | g.168293138C= | CA1143958450 | TBX19 | c.469-6C= (n.469-6C=) c.266-6C= | |
| 1 | g.168293138C>G | CA2574084055 | TBX19 | c.469-6C>G (n.469-6C>G) c.266-6C>G | gnomAD v4 |
| 1 | g.168293138C>T | CA31493262 | TBX19 | c.469-6C>T (n.469-6C>T) c.266-6C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293139G>A | CA1230509 | TBX19 | c.469-5G>A (n.469-5G>A) c.266-5G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.168293139G>C | CA2574084056 | TBX19 | c.469-5G>C (n.469-5G>C) c.266-5G>C | |
| 1 | g.168293139G= | CA1205614123 | TBX19 | c.469-5G= (n.469-5G=) c.266-5G= | |
| 1 | g.168293139G>T | CA2649007502 | TBX19 | c.469-5G>T (n.469-5G>T) c.266-5G>T | gnomAD v4 |
| 1 | g.168293140A= | CA1205614124 | TBX19 | c.469-4A= (n.469-4A=) c.266-4A= | |
| 1 | g.168293140A>G | CA527130755 | TBX19 | c.469-4A>G (n.469-4A>G) c.266-4A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293141C>A | CA645520094 | TBX19 | c.469-3C>A (n.469-3C>A) c.266-3C>A | gnomAD v4 COSMIC |
| 1 | g.168293141C>T | CA2574084057 | TBX19 | c.469-3C>T (n.469-3C>T) c.266-3C>T | gnomAD v4 |
| 1 | g.168293142A>C | CA343106828 | TBX19 | c.469-2A>C (n.469-2A>C) c.266-2A>C | |
| 1 | g.168293142A>G | CA343106829 | TBX19 | c.469-2A>G (n.469-2A>G) c.266-2A>G | |
| 1 | g.168293142A>T | CA343106830 | TBX19 | c.469-2A>T (n.469-2A>T) c.266-2A>T | |
| 1 | g.168293143G>A | CA1230510 | TBX19 | c.469-1G>A (n.469-1G>A) c.266-1G>A | dbSNP ExAC gnomAD v2 |
| 1 | g.168293143G>C | CA343106831 | TBX19 | c.469-1G>C (n.469-1G>C) c.266-1G>C | COSMIC |
| 1 | g.168293143G= | CA1205614125 | TBX19 | c.469-1G= (n.469-1G=) c.266-1G= | |
| 1 | g.168293143G>T | CA343106832 | TBX19 | c.469-1G>T (n.469-1G>T) c.266-1G>T | |
| 1 | g.168293144A>C | CA343106834 | TBX19 | c.469A>C (p.Ile157Leu) c.266A>C | |
| 1 | g.168293144A>G | CA343106835 | TBX19 | c.469A>G (p.Ile157Val) c.266A>G | |
| 1 | g.168293144A>T | CA343106833 | TBX19 | c.469A>T (p.Ile157Leu) c.266A>T | |
| 1 | g.168293145T>A | CA343106837 | TBX19 | c.470T>A (p.Ile157Lys) c.267T>A | |
| 1 | g.168293145T>C | CA343106836 | TBX19 | c.470T>C (p.Ile157Thr) c.267T>C | gnomAD v4 |
| 1 | g.168293145T>G | CA343106838 | TBX19 | c.470T>G (p.Ile157Arg) c.267T>G | |
| 1 | g.168293146A>C | CA421716345 | TBX19 | c.471A>C (p.Ile157=) c.268A>C |