Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21619137A>C | CA366952559 | DNAH11 | c.4292A>C (p.Asp1431Ala) c.4307A>C (p.Asp1436Ala) n.318A>C | |
7 | g.21619137A>G | CA366952561 | DNAH11 | c.4292A>G (p.Asp1431Gly) c.4307A>G (p.Asp1436Gly) n.318A>G | |
7 | g.21619137A>T | CA366952560 | DNAH11 | c.4292A>T (p.Asp1431Val) c.4307A>T (p.Asp1436Val) n.318A>T | |
7 | g.21619138T>A | CA366952562 | DNAH11 | c.4293T>A (p.Asp1431Glu) c.4308T>A (p.Asp1436Glu) n.319T>A | |
7 | g.21619138T>C | CA453964484 | DNAH11 | c.4293T>C (p.Asp1431=) c.4308T>C (p.Asp1436=) n.319T>C | |
7 | g.21619138T>G | CA366952563 | DNAH11 | c.4293T>G (p.Asp1431Glu) c.4308T>G (p.Asp1436Glu) n.319T>G | |
7 | g.21619139T>A | CA366952564 | DNAH11 | c.4294T>A (p.Leu1432Met) c.4309T>A (p.Leu1437Met) n.320T>A | COSMIC COSMIC |
7 | g.21619139T>C | CA453964485 | DNAH11 | c.4294T>C (p.Leu1432=) c.4309T>C (p.Leu1437=) n.320T>C | |
7 | g.21619139T>G | CA242427 | DNAH11 | c.4294T>G (p.Leu1432Val) c.4309T>G (p.Leu1437Val) n.320T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21619139T= | CA1693571565 | DNAH11 | c.4294T= (p.Leu1432=) c.4309T= (p.Leu1437=) n.320T= | |
7 | g.21619140T>A | CA366952565 | DNAH11 | c.4295T>A (p.Leu1432Ter) c.4310T>A (p.Leu1437Ter) n.321T>A | |
7 | g.21619140T>C | CA4179990 | DNAH11 | c.4295T>C (p.Leu1432Ser) c.4310T>C (p.Leu1437Ser) n.321T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619140T>G | CA155109020 | DNAH11 | c.4295T>G (p.Leu1432Trp) c.4310T>G (p.Leu1437Trp) n.321T>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21619140T= | CA1693571568 | DNAH11 | c.4295T= (p.Leu1432=) c.4310T= (p.Leu1437=) n.321T= | |
7 | g.21619141G>A | CA453964486 | DNAH11 | c.4296G>A (p.Leu1432=) c.4311G>A (p.Leu1437=) n.322G>A | dbSNP gnomAD v2 |
7 | g.21619141G>C | CA4179991 | DNAH11 | c.4296G>C (p.Leu1432Phe) c.4311G>C (p.Leu1437Phe) n.322G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21619141G= | CA1693571572 | DNAH11 | c.4296G= (p.Leu1432=) c.4311G= (p.Leu1437=) n.322G= | |
7 | g.21619141G>T | CA366952566 | DNAH11 | c.4296G>T (p.Leu1432Phe) c.4311G>T (p.Leu1437Phe) n.322G>T | |
7 | g.21619142T>A | CA366952567 | DNAH11 | c.4297T>A (p.Leu1433Ile) c.4312T>A (p.Leu1438Ile) n.323T>A | dbSNP |
7 | g.21619142T>C | CA453964487 | DNAH11 | c.4297T>C (p.Leu1433=) c.4312T>C (p.Leu1438=) n.323T>C | |
7 | g.21619142T>G | CA366952568 | DNAH11 | c.4297T>G (p.Leu1433Val) c.4312T>G (p.Leu1438Val) n.323T>G | |
7 | g.21619142T= | CA1693571576 | DNAH11 | c.4297T= (p.Leu1433=) c.4312T= (p.Leu1438=) n.323T= | |
7 | g.21619143T>A | CA366952569 | DNAH11 | c.4298T>A (p.Leu1433Ter) c.4313T>A (p.Leu1438Ter) n.324T>A | gnomAD v4 |
7 | g.21619143T>C | CA366952571 | DNAH11 | c.4298T>C (p.Leu1433Ser) c.4313T>C (p.Leu1438Ser) n.324T>C | gnomAD v4 |
7 | g.21619143T>G | CA366952570 | DNAH11 | c.4298T>G (p.Leu1433Ter) c.4313T>G (p.Leu1438Ter) n.324T>G | |
7 | g.21619144A= | CA1693571578 | DNAH11 | c.4299A= (p.Leu1433=) c.4314A= (p.Leu1438=) n.325A= | |
7 | g.21619144A>C | CA366952572 | DNAH11 | c.4299A>C (p.Leu1433Phe) c.4314A>C (p.Leu1438Phe) n.325A>C | |
7 | g.21619144A>G | CA453964488 | DNAH11 | c.4299A>G (p.Leu1433=) c.4314A>G (p.Leu1438=) n.325A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21619144A>T | CA366952573 | DNAH11 | c.4299A>T (p.Leu1433Phe) c.4314A>T (p.Leu1438Phe) n.325A>T | |
7 | g.21619145G>A | CA4179992 | DNAH11 | c.4300G>A (p.Ala1434Thr) c.4315G>A (p.Ala1439Thr) n.326G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21619145G>C | CA155109044 | DNAH11 | c.4300G>C (p.Ala1434Pro) c.4315G>C (p.Ala1439Pro) n.326G>C | dbSNP |
7 | g.21619145G= | CA1693571581 | DNAH11 | c.4300G= (p.Ala1434=) c.4315G= (p.Ala1439=) n.326G= | |
7 | g.21619145G>T | CA366952574 | DNAH11 | c.4300G>T (p.Ala1434Ser) c.4315G>T (p.Ala1439Ser) n.326G>T | |
7 | g.21619146C>A | CA366952575 | DNAH11 | c.4301C>A (p.Ala1434Glu) c.4316C>A (p.Ala1439Glu) n.327C>A | |
7 | g.21619146C>G | CA366952577 | DNAH11 | c.4301C>G (p.Ala1434Gly) c.4316C>G (p.Ala1439Gly) n.327C>G | |
7 | g.21619146C>T | CA366952576 | DNAH11 | c.4301C>T (p.Ala1434Val) c.4316C>T (p.Ala1439Val) n.327C>T | gnomAD v4 COSMIC COSMIC |
7 | g.21619147A>C | CA453964489 | DNAH11 | c.4302A>C (p.Ala1434=) c.4317A>C (p.Ala1439=) n.328A>C | |
7 | g.21619147A>G | CA453964490 | DNAH11 | c.4302A>G (p.Ala1434=) c.4317A>G (p.Ala1439=) n.328A>G | |
7 | g.21619147A>T | CA453964491 | DNAH11 | c.4302A>T (p.Ala1434=) c.4317A>T (p.Ala1439=) n.328A>T | |
7 | g.21619148C>A | CA366952578 | DNAH11 | c.4303C>A (p.Leu1435Met) c.4318C>A (p.Leu1440Met) n.329C>A | |
7 | g.21619148C>G | CA366952579 | DNAH11 | c.4303C>G (p.Leu1435Val) c.4318C>G (p.Leu1440Val) n.329C>G | |
7 | g.21619148C>T | CA453964492 | DNAH11 | c.4303C>T (p.Leu1435=) c.4318C>T (p.Leu1440=) n.329C>T | |
7 | g.21619149T>A | CA366952580 | DNAH11 | c.4304T>A (p.Leu1435Gln) c.4319T>A (p.Leu1440Gln) n.330T>A | |
7 | g.21619149T>C | CA366952582 | DNAH11 | c.4304T>C (p.Leu1435Pro) c.4319T>C (p.Leu1440Pro) n.330T>C | gnomAD v4 |
7 | g.21619149T>G | CA366952581 | DNAH11 | c.4304T>G (p.Leu1435Arg) c.4319T>G (p.Leu1440Arg) n.330T>G | |
7 | g.21619150G>A | CA453964495 | DNAH11 | c.4305G>A (p.Leu1435=) c.4320G>A (p.Leu1440=) n.331G>A | gnomAD v4 |
7 | g.21619150G>C | CA453964493 | DNAH11 | c.4305G>C (p.Leu1435=) c.4320G>C (p.Leu1440=) n.331G>C | |
7 | g.21619150G>T | CA453964494 | DNAH11 | c.4305G>T (p.Leu1435=) c.4320G>T (p.Leu1440=) n.331G>T | |
7 | g.21619151C>A | CA453964496 | DNAH11 | c.4306C>A (p.Arg1436=) c.4321C>A (p.Arg1441=) n.332C>A | gnomAD v4 |
7 | g.21619151C= | CA1693571610 | DNAH11 | c.4306C= (p.Arg1436=) c.4321C= (p.Arg1441=) n.332C= |