Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21705450T>C | CA2681984302 | DNAH11 | c.6469-10T>C (n.6469-10T>C) c.6490-10T>C (n.6490-10T>C) | gnomAD v4 |
7 | g.21705450T>G | CA2681984303 | DNAH11 | c.6469-10T>G (n.6469-10T>G) c.6490-10T>G (n.6490-10T>G) | gnomAD v4 |
7 | g.21705451G>C | CA2681984304 | DNAH11 | c.6469-9G>C (n.6469-9G>C) c.6490-9G>C (n.6490-9G>C) | gnomAD v4 |
7 | g.21705451G= | CA1693626491 | DNAH11 | c.6469-9G= (n.6469-9G=) c.6490-9G= (n.6490-9G=) | |
7 | g.21705451G>T | CA4180839 | DNAH11 | c.6469-9G>T (n.6469-9G>T) c.6490-9G>T (n.6490-9G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21705452C= | CA1693626495 | DNAH11 | c.6469-8C= (n.6469-8C=) c.6490-8C= (n.6490-8C=) | |
7 | g.21705452C>G | CA836648381 | DNAH11 | c.6469-8C>G (n.6469-8C>G) c.6490-8C>G (n.6490-8C>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21705452C>T | CA572919973 | DNAH11 | c.6469-8C>T (n.6469-8C>T) c.6490-8C>T (n.6490-8C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21705453T>A | CA2681984306 | DNAH11 | c.6469-7T>A (n.6469-7T>A) c.6490-7T>A (n.6490-7T>A) | gnomAD v4 |
7 | g.21705453_21705468del | CA2681984305 | DNAH11 | c.6469-7_6477del c.6490-7_6498del | gnomAD v4 |
7 | g.21705454C= | CA1693626497 | DNAH11 | c.6469-6C= (n.6469-6C=) c.6490-6C= (n.6490-6C=) | |
7 | g.21705454C>G | CA453964888 | DNAH11 | c.6469-6C>G (n.6469-6C>G) c.6490-6C>G (n.6490-6C>G) | |
7 | g.21705454C>T | CA836648387 | DNAH11 | c.6469-6C>T (n.6469-6C>T) c.6490-6C>T (n.6490-6C>T) | dbSNP |
7 | g.21705455T>A | CA2681984307 | DNAH11 | c.6469-5T>A (n.6469-5T>A) c.6490-5T>A (n.6490-5T>A) | gnomAD v4 |
7 | g.21705456G>A | CA1099221295 | DNAH11 | c.6469-4G>A (n.6469-4G>A) c.6490-4G>A (n.6490-4G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21705456G= | CA1693626499 | DNAH11 | c.6469-4G= (n.6469-4G=) c.6490-4G= (n.6490-4G=) | |
7 | g.21705457C>A | CA572920076 | DNAH11 | c.6469-3C>A (n.6469-3C>A) c.6490-3C>A (n.6490-3C>A) | dbSNP gnomAD v2 |
7 | g.21705457C= | CA1693626502 | DNAH11 | c.6469-3C= (n.6469-3C=) c.6490-3C= (n.6490-3C=) | |
7 | g.21705458A>C | CA366937989 | DNAH11 | c.6469-2A>C (n.6469-2A>C) c.6490-2A>C (n.6490-2A>C) | |
7 | g.21705458A>G | CA366937992 | DNAH11 | c.6469-2A>G (n.6469-2A>G) c.6490-2A>G (n.6490-2A>G) | gnomAD v4 |
7 | g.21705458A>T | CA366937994 | DNAH11 | c.6469-2A>T (n.6469-2A>T) c.6490-2A>T (n.6490-2A>T) | |
7 | g.21705459G>A | CA366938002 | DNAH11 | c.6469-1G>A (n.6469-1G>A) c.6490-1G>A (n.6490-1G>A) | |
7 | g.21705459G>C | CA366938000 | DNAH11 | c.6469-1G>C (n.6469-1G>C) c.6490-1G>C (n.6490-1G>C) | gnomAD v4 |
7 | g.21705459G>T | CA366937996 | DNAH11 | c.6469-1G>T (n.6469-1G>T) c.6490-1G>T (n.6490-1G>T) | gnomAD v4 |
7 | g.21705460G>A | CA366938004 | DNAH11 | c.6469G>A (p.Val2157Ile) c.6490G>A (p.Val2164Ile) | COSMIC COSMIC |
7 | g.21705460G>C | CA366938006 | DNAH11 | c.6469G>C (p.Val2157Leu) c.6490G>C (p.Val2164Leu) | |
7 | g.21705460G>T | CA366938007 | DNAH11 | c.6469G>T (p.Val2157Phe) c.6490G>T (p.Val2164Phe) | |
7 | g.21705461T>A | CA366938009 | DNAH11 | c.6470T>A (p.Val2157Asp) c.6491T>A (p.Val2164Asp) | |
7 | g.21705461T>C | CA366938010 | DNAH11 | c.6470T>C (p.Val2157Ala) c.6491T>C (p.Val2164Ala) | |
7 | g.21705461T>G | CA366938012 | DNAH11 | c.6470T>G (p.Val2157Gly) c.6491T>G (p.Val2164Gly) | gnomAD v4 |
7 | g.21705462T>A | CA453964898 | DNAH11 | c.6471T>A (p.Val2157=) c.6492T>A (p.Val2164=) | |
7 | g.21705462T>C | CA453964899 | DNAH11 | c.6471T>C (p.Val2157=) c.6492T>C (p.Val2164=) | dbSNP |
7 | g.21705462T>G | CA155077493 | DNAH11 | c.6471T>G (p.Val2157=) c.6492T>G (p.Val2164=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21705462T= | CA1693626504 | DNAH11 | c.6471T= (p.Val2157=) c.6492T= (p.Val2164=) | |
7 | g.21705463G>A | CA366938016 | DNAH11 | c.6472G>A (p.Val2158Ile) c.6493G>A (p.Val2165Ile) | gnomAD v4 |
7 | g.21705463G>C | CA366938018 | DNAH11 | c.6472G>C (p.Val2158Leu) c.6493G>C (p.Val2165Leu) | |
7 | g.21705463G>T | CA366938019 | DNAH11 | c.6472G>T (p.Val2158Phe) c.6493G>T (p.Val2165Phe) | |
7 | g.21705464T>A | CA366938021 | DNAH11 | c.6473T>A (p.Val2158Asp) c.6494T>A (p.Val2165Asp) | |
7 | g.21705464T>C | CA366938023 | DNAH11 | c.6473T>C (p.Val2158Ala) c.6494T>C (p.Val2165Ala) | |
7 | g.21705464T>G | CA366938025 | DNAH11 | c.6473T>G (p.Val2158Gly) c.6494T>G (p.Val2165Gly) | |
7 | g.21705465C>A | CA453964900 | DNAH11 | c.6474C>A (p.Val2158=) c.6495C>A (p.Val2165=) | dbSNP |
7 | g.21705465C= | CA1693626505 | DNAH11 | c.6474C= (p.Val2158=) c.6495C= (p.Val2165=) | |
7 | g.21705465C>G | CA453964902 | DNAH11 | c.6474C>G (p.Val2158=) c.6495C>G (p.Val2165=) | |
7 | g.21705465C>T | CA453964901 | DNAH11 | c.6474C>T (p.Val2158=) c.6495C>T (p.Val2165=) | |
7 | g.21705466C>A | CA366938029 | DNAH11 | c.6475C>A (p.Gln2159Lys) c.6496C>A (p.Gln2166Lys) | |
7 | g.21705466C>G | CA366938026 | DNAH11 | c.6475C>G (p.Gln2159Glu) c.6496C>G (p.Gln2166Glu) | |
7 | g.21705466C>T | CA366938028 | DNAH11 | c.6475C>T (p.Gln2159Ter) c.6496C>T (p.Gln2166Ter) | gnomAD v4 |
7 | g.21705467A>C | CA366938031 | DNAH11 | c.6476A>C (p.Gln2159Pro) c.6497A>C (p.Gln2166Pro) | |
7 | g.21705467A>G | CA366938033 | DNAH11 | c.6476A>G (p.Gln2159Arg) c.6497A>G (p.Gln2166Arg) | |
7 | g.21705467A>T | CA366938035 | DNAH11 | c.6476A>T (p.Gln2159Leu) c.6497A>T (p.Gln2166Leu) |