Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
1 | g.168293146A>G | CA343106839 | TBX19 | c.471A>G (p.Ile157Met) c.268A>G | |
1 | g.168293146A>T | CA421716346 | TBX19 | c.471A>T (p.Ile157=) c.268A>T | |
1 | g.168293147A= | CA1205614126 | TBX19 | c.472A= (p.Met158=) c.269A= | |
1 | g.168293147A>C | CA343106841 | TBX19 | c.472A>C (p.Met158Leu) c.269A>C | |
1 | g.168293147A>G | CA343106840 | TBX19 | c.472A>G (p.Met158Val) c.269A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.168293147A>T | CA343106842 | TBX19 | c.472A>T (p.Met158Leu) c.269A>T | |
1 | g.168293148T>A | CA343106843 | TBX19 | c.473T>A (p.Met158Lys) c.270T>A | |
1 | g.168293148T>C | CA31493281 | TBX19 | c.473T>C (p.Met158Thr) c.270T>C | dbSNP gnomAD v4 |
1 | g.168293148T>G | CA343106844 | TBX19 | c.473T>G (p.Met158Arg) c.270T>G | |
1 | g.168293148T= | CA1205614127 | TBX19 | c.473T= (p.Met158=) c.270T= | |
1 | g.168293149G>A | CA1230511 | TBX19 | c.474G>A (p.Met158Ile) c.271G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.168293149G>C | CA343106845 | TBX19 | c.474G>C (p.Met158Ile) c.271G>C | |
1 | g.168293149G= | CA1205614128 | TBX19 | c.474G= (p.Met158=) c.271G= | |
1 | g.168293149G>T | CA343106846 | TBX19 | c.474G>T (p.Met158Ile) c.271G>T | |
1 | g.168293150T>A | CA343106847 | TBX19 | c.475T>A (p.Leu159Met) c.272T>A | dbSNP |
1 | g.168293150T>C | CA421716350 | TBX19 | c.475T>C (p.Leu159=) c.272T>C | |
1 | g.168293150T>G | CA343106848 | TBX19 | c.475T>G (p.Leu159Val) c.272T>G | |
1 | g.168293150T= | CA1205614129 | TBX19 | c.475T= (p.Leu159=) c.272T= | |
1 | g.168293151T>A | CA343106849 | TBX19 | c.476T>A (p.Leu159Ter) c.273T>A | |
1 | g.168293151T>C | CA343106850 | TBX19 | c.476T>C (p.Leu159Ser) c.273T>C | |
1 | g.168293151T>G | CA343106851 | TBX19 | c.476T>G (p.Leu159Trp) c.273T>G | |
1 | g.168293152G>A | CA421716351 | TBX19 | c.477G>A (p.Leu159=) c.274G>A | |
1 | g.168293152G>C | CA343106852 | TBX19 | c.477G>C (p.Leu159Phe) c.274G>C | ClinVar dbSNP |
1 | g.168293152G= | CA1205614130 | TBX19 | c.477G= (p.Leu159=) c.274G= | |
1 | g.168293152G>T | CA343106853 | TBX19 | c.477G>T (p.Leu159Phe) c.274G>T | |
1 | g.168293153A>C | CA343106854 | TBX19 | c.478A>C (p.Asn160His) c.275A>C | |
1 | g.168293153A>G | CA343106856 | TBX19 | c.478A>G (p.Asn160Asp) c.275A>G | |
1 | g.168293153A>T | CA343106855 | TBX19 | c.478A>T (p.Asn160Tyr) c.275A>T | |
1 | g.168293154A>C | CA343106857 | TBX19 | c.479A>C (p.Asn160Thr) c.276A>C | |
1 | g.168293154A>G | CA343106858 | TBX19 | c.479A>G (p.Asn160Ser) c.276A>G | |
1 | g.168293154A>T | CA343106859 | TBX19 | c.479A>T (p.Asn160Ile) c.276A>T | |
1 | g.168293155T>A | CA343106860 | TBX19 | c.480T>A (p.Asn160Lys) c.277T>A | |
1 | g.168293155T>C | CA421716354 | TBX19 | c.480T>C (p.Asn160=) c.277T>C | |
1 | g.168293155T>G | CA343106861 | TBX19 | c.480T>G (p.Asn160Lys) c.277T>G |