Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21854375G>A | CA366959961 | DNAH11 | c.11122G>A (p.Val3708Met) c.11143G>A (p.Val3715Met) n.305G>A n.385G>A | gnomAD v4 |
7 | g.21854375G>C | CA366959963 | DNAH11 | c.11122G>C (p.Val3708Leu) c.11143G>C (p.Val3715Leu) n.305G>C n.385G>C | dbSNP |
7 | g.21854375G= | CA1693708987 | DNAH11 | c.11122G= (p.Val3708=) c.11143G= (p.Val3715=) n.305G= n.385G= | |
7 | g.21854375G>T | CA175749 | DNAH11 | c.11122G>T (p.Val3708Leu) c.11143G>T (p.Val3715Leu) n.305G>T n.385G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21854376T>A | CA366959967 | DNAH11 | c.11123T>A (p.Val3708Glu) c.11144T>A (p.Val3715Glu) n.306T>A n.386T>A | |
7 | g.21854376T>C | CA4182624 | DNAH11 | c.11123T>C (p.Val3708Ala) c.11144T>C (p.Val3715Ala) n.306T>C n.386T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21854376T>G | CA366959968 | DNAH11 | c.11123T>G (p.Val3708Gly) c.11144T>G (p.Val3715Gly) n.306T>G n.386T>G | |
7 | g.21854376T= | CA1693708997 | DNAH11 | c.11123T= (p.Val3708=) c.11144T= (p.Val3715=) n.306T= n.386T= | |
7 | g.21854377G>A | CA453965823 | DNAH11 | c.11124G>A (p.Val3708=) c.11145G>A (p.Val3715=) n.307G>A n.387G>A | |
7 | g.21854377G>C | CA453965824 | DNAH11 | c.11124G>C (p.Val3708=) c.11145G>C (p.Val3715=) n.307G>C n.387G>C | |
7 | g.21854377G>T | CA453965825 | DNAH11 | c.11124G>T (p.Val3708=) c.11145G>T (p.Val3715=) n.307G>T n.387G>T | |
7 | g.21854378G>A | CA366959970 | DNAH11 | c.11125G>A (p.Ala3709Thr) c.11146G>A (p.Ala3716Thr) n.308G>A n.388G>A | gnomAD v4 |
7 | g.21854378G>C | CA366959972 | DNAH11 | c.11125G>C (p.Ala3709Pro) c.11146G>C (p.Ala3716Pro) n.308G>C n.388G>C | |
7 | g.21854378G>T | CA366959974 | DNAH11 | c.11125G>T (p.Ala3709Ser) c.11146G>T (p.Ala3716Ser) n.308G>T n.388G>T | gnomAD v4 |
7 | g.21854379C>A | CA366959976 | DNAH11 | c.11126C>A (p.Ala3709Glu) c.11147C>A (p.Ala3716Glu) n.309C>A n.389C>A | |
7 | g.21854379C= | CA1693709000 | DNAH11 | c.11126C= (p.Ala3709=) c.11147C= (p.Ala3716=) n.309C= n.389C= | |
7 | g.21854379C>G | CA366959978 | DNAH11 | c.11126C>G (p.Ala3709Gly) c.11147C>G (p.Ala3716Gly) n.309C>G n.389C>G | |
7 | g.21854379C>T | CA366959980 | DNAH11 | c.11126C>T (p.Ala3709Val) c.11147C>T (p.Ala3716Val) n.309C>T n.389C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21854380A>C | CA453965826 | DNAH11 | c.11127A>C (p.Ala3709=) c.11148A>C (p.Ala3716=) n.310A>C n.390A>C | |
7 | g.21854380A>G | CA453965827 | DNAH11 | c.11127A>G (p.Ala3709=) c.11148A>G (p.Ala3716=) n.310A>G n.390A>G | |
7 | g.21854380A>T | CA453965828 | DNAH11 | c.11127A>T (p.Ala3709=) c.11148A>T (p.Ala3716=) n.310A>T n.390A>T | |
7 | g.21854381G>A | CA366959982 | DNAH11 | c.11128G>A (p.Ala3710Thr) c.11149G>A (p.Ala3717Thr) n.311G>A n.391G>A | dbSNP gnomAD v4 |
7 | g.21854381G>C | CA366959986 | DNAH11 | c.11128G>C (p.Ala3710Pro) c.11149G>C (p.Ala3717Pro) n.311G>C n.391G>C | |
7 | g.21854381G= | CA1693709004 | DNAH11 | c.11128G= (p.Ala3710=) c.11149G= (p.Ala3717=) n.311G= n.391G= | |
7 | g.21854381G>T | CA366959984 | DNAH11 | c.11128G>T (p.Ala3710Ser) c.11149G>T (p.Ala3717Ser) n.311G>T n.391G>T | |
7 | g.21854382C>A | CA366959988 | DNAH11 | c.11129C>A (p.Ala3710Glu) c.11150C>A (p.Ala3717Glu) n.312C>A n.392C>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21854382C= | CA1693709006 | DNAH11 | c.11129C= (p.Ala3710=) c.11150C= (p.Ala3717=) n.312C= n.392C= | |
7 | g.21854382C>G | CA366959991 | DNAH11 | c.11129C>G (p.Ala3710Gly) c.11150C>G (p.Ala3717Gly) n.312C>G n.392C>G | |
7 | g.21854382C>T | CA366959990 | DNAH11 | c.11129C>T (p.Ala3710Val) c.11150C>T (p.Ala3717Val) n.312C>T n.392C>T | |
7 | g.21854383A>C | CA453965829 | DNAH11 | c.11130A>C (p.Ala3710=) c.11151A>C (p.Ala3717=) n.313A>C n.393A>C | |
7 | g.21854383A>G | CA453965831 | DNAH11 | c.11130A>G (p.Ala3710=) c.11151A>G (p.Ala3717=) n.313A>G n.393A>G | |
7 | g.21854383A>T | CA453965830 | DNAH11 | c.11130A>T (p.Ala3710=) c.11151A>T (p.Ala3717=) n.313A>T n.393A>T | |
7 | g.21854384del | CA2681990799 | DNAH11 | c.11131del (p.Arg3711GlufsTer23) c.11152del (p.Arg3718GlufsTer23) n.314del n.394del | gnomAD v4 |
7 | g.21854384A= | CA1693709010 | DNAH11 | c.11131A= (p.Arg3711=) c.11152A= (p.Arg3718=) n.314A= n.394A= | |
7 | g.21854384A>C | CA453965832 | DNAH11 | c.11131A>C (p.Arg3711=) c.11152A>C (p.Arg3718=) n.314A>C n.394A>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21854384A>G | CA4182625 | DNAH11 | c.11131A>G (p.Arg3711Gly) c.11152A>G (p.Arg3718Gly) n.314A>G n.394A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21854384A>T | CA366959994 | DNAH11 | c.11131A>T (p.Arg3711Ter) c.11152A>T (p.Arg3718Ter) n.314A>T n.394A>T | |
7 | g.21854385G>A | CA366959996 | DNAH11 | c.11132G>A (p.Arg3711Lys) c.11153G>A (p.Arg3718Lys) n.315G>A n.395G>A | |
7 | g.21854385G>C | CA366959999 | DNAH11 | c.11132G>C (p.Arg3711Thr) c.11153G>C (p.Arg3718Thr) n.315G>C n.395G>C | |
7 | g.21854385G>T | CA366959998 | DNAH11 | c.11132G>T (p.Arg3711Ile) c.11153G>T (p.Arg3718Ile) n.315G>T n.395G>T | |
7 | g.21854386A= | CA1693709013 | DNAH11 | c.11133A= (p.Arg3711=) c.11154A= (p.Arg3718=) n.316A= n.396A= | |
7 | g.21854386A>C | CA366960001 | DNAH11 | c.11133A>C (p.Arg3711Ser) c.11154A>C (p.Arg3718Ser) n.316A>C n.396A>C | |
7 | g.21854386A>G | CA4182626 | DNAH11 | c.11133A>G (p.Arg3711=) c.11154A>G (p.Arg3718=) n.316A>G n.396A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21854386A>T | CA366960004 | DNAH11 | c.11133A>T (p.Arg3711Ser) c.11154A>T (p.Arg3718Ser) n.316A>T n.396A>T | |
7 | g.21854387G>A | CA366960006 | DNAH11 | c.11134G>A (p.Ala3712Thr) c.11155G>A (p.Ala3719Thr) n.317G>A n.397G>A | |
7 | g.21854387G>C | CA366960008 | DNAH11 | c.11134G>C (p.Ala3712Pro) c.11155G>C (p.Ala3719Pro) n.317G>C n.397G>C | |
7 | g.21854387G>T | CA366960010 | DNAH11 | c.11134G>T (p.Ala3712Ser) c.11155G>T (p.Ala3719Ser) n.317G>T n.397G>T | gnomAD v4 |
7 | g.21854388C>A | CA366960012 | DNAH11 | c.11135C>A (p.Ala3712Glu) c.11156C>A (p.Ala3719Glu) n.318C>A n.398C>A | |
7 | g.21854388C= | CA1693709015 | DNAH11 | c.11135C= (p.Ala3712=) c.11156C= (p.Ala3719=) n.318C= n.398C= | |
7 | g.21854388C>G | CA366960014 | DNAH11 | c.11135C>G (p.Ala3712Gly) c.11156C>G (p.Ala3719Gly) n.318C>G n.398C>G |