Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | ClinVar 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= | |
7 | g.21619151C>G | CA366952583 | DNAH11 | c.4306C>G (p.Arg1436Gly) c.4321C>G (p.Arg1441Gly) n.332C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21619151C>T | CA4179993 | DNAH11 | c.4306C>T (p.Arg1436Trp) c.4321C>T (p.Arg1441Trp) n.332C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21619152G>A | CA4179994 | DNAH11 | c.4307G>A (p.Arg1436Gln) c.4322G>A (p.Arg1441Gln) n.333G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21619152G>C | CA366952584 | DNAH11 | c.4307G>C (p.Arg1436Pro) c.4322G>C (p.Arg1441Pro) n.333G>C | |
7 | g.21619152G= | CA1693571619 | DNAH11 | c.4307G= (p.Arg1436=) c.4322G= (p.Arg1441=) n.333G= | |
7 | g.21619152G>T | CA366952585 | DNAH11 | c.4307G>T (p.Arg1436Leu) c.4322G>T (p.Arg1441Leu) n.333G>T | |
7 | g.21619153dup | CA836625233 | DNAH11 | c.4308dup (p.Leu1437ValfsTer7) c.4323dup (p.Leu1442ValfsTer7) n.334dup | dbSNP |
7 | g.21619153G>A | CA453964497 | DNAH11 | c.4308G>A (p.Arg1436=) c.4323G>A (p.Arg1441=) n.334G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619153G>C | CA453964498 | DNAH11 | c.4308G>C (p.Arg1436=) c.4323G>C (p.Arg1441=) n.334G>C | |
7 | g.21619153G= | CA1693571624 | DNAH11 | c.4308G= (p.Arg1436=) c.4323G= (p.Arg1441=) n.334G= | |
7 | g.21619153G>T | CA155109078 | DNAH11 | c.4308G>T (p.Arg1436=) c.4323G>T (p.Arg1441=) n.334G>T | dbSNP |
7 | g.21619154T>A | CA366952586 | DNAH11 | c.4309T>A (p.Leu1437Ile) c.4324T>A (p.Leu1442Ile) n.335T>A | |
7 | g.21619154T>C | CA453964499 | DNAH11 | c.4309T>C (p.Leu1437=) c.4324T>C (p.Leu1442=) n.335T>C | |
7 | g.21619154T>G | CA366952587 | DNAH11 | c.4309T>G (p.Leu1437Val) c.4324T>G (p.Leu1442Val) n.335T>G | |
7 | g.21619155T>A | CA366952588 | DNAH11 | c.4310T>A (p.Leu1437Ter) c.4325T>A (p.Leu1442Ter) n.336T>A | |
7 | g.21619155T>C | CA366952589 | DNAH11 | c.4310T>C (p.Leu1437Ser) c.4325T>C (p.Leu1442Ser) n.336T>C | |
7 | g.21619155T>G | CA366952590 | DNAH11 | c.4310T>G (p.Leu1437Ter) c.4325T>G (p.Leu1442Ter) n.336T>G | |
7 | g.21619155_21619157delinsTAC | CA1693571628 | DNAH11 | c.4310_4312delinsTAC (p.Leu1437=) c.4325_4327delinsTAC (p.Leu1442=) n.336_338delinsTAC | |
7 | g.21619156A= | CA1693571631 | DNAH11 | c.4311A= (p.Leu1437=) c.4326A= (p.Leu1442=) n.337A= | |
7 | g.21619156A>C | CA155109081 | DNAH11 | c.4311A>C (p.Leu1437Phe) c.4326A>C (p.Leu1442Phe) n.337A>C | dbSNP gnomAD v2 |
7 | g.21619156A>G | CA453964500 | DNAH11 | c.4311A>G (p.Leu1437=) c.4326A>G (p.Leu1442=) n.337A>G | |
7 | g.21619156A>T | CA366952591 | DNAH11 | c.4311A>T (p.Leu1437Phe) c.4326A>T (p.Leu1442Phe) n.337A>T | |
7 | g.21619159_21619160del | CA836625242 | DNAH11 | c.4314_4315del (p.His1438GlnfsTer5) c.4329_4330del (p.His1443GlnfsTer5) n.340_341del | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21619156_21619161delinsACACAG | CA1693571630 | DNAH11 | c.4311_4316delinsACACAG (p.Leu1437=) c.4326_4331delinsACACAG (p.Leu1442=) n.337_342delinsACACAG | |
7 | g.21619157C>A | CA366952592 | DNAH11 | c.4312C>A (p.His1438Asn) c.4327C>A (p.His1443Asn) n.338C>A | |
7 | g.21619157C= | CA1693571636 | DNAH11 | c.4312C= (p.His1438=) c.4327C= (p.His1443=) n.338C= | |
7 | g.21619157C>G | CA366952594 | DNAH11 | c.4312C>G (p.His1438Asp) c.4327C>G (p.His1443Asp) n.338C>G | |
7 | g.21619157C>T | CA366952593 | DNAH11 | c.4312C>T (p.His1438Tyr) c.4327C>T (p.His1443Tyr) n.338C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21619157_21619161del | CA1099227497 | DNAH11 | c.4312_4316del (p.His1438SerfsTer4) c.4327_4331del (p.His1443SerfsTer4) n.338_342del | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21619158A= | CA1693571638 | DNAH11 | c.4313A= (p.His1438=) c.4328A= (p.His1443=) n.339A= | |
7 | g.21619158A>C | CA366952595 | DNAH11 | c.4313A>C (p.His1438Pro) c.4328A>C (p.His1443Pro) n.339A>C | dbSNP |
7 | g.21619158A>G | CA366952596 | DNAH11 | c.4313A>G (p.His1438Arg) c.4328A>G (p.His1443Arg) n.339A>G | |
7 | g.21619158A>T | CA366952597 | DNAH11 | c.4313A>T (p.His1438Leu) c.4328A>T (p.His1443Leu) n.339A>T | |
7 | g.21619159C>A | CA366952598 | DNAH11 | c.4314C>A (p.His1438Gln) c.4329C>A (p.His1443Gln) n.340C>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21619159C= | CA1693571640 | DNAH11 | c.4314C= (p.His1438=) c.4329C= (p.His1443=) n.340C= | |
7 | g.21619159C>G | CA366952599 | DNAH11 | c.4314C>G (p.His1438Gln) c.4329C>G (p.His1443Gln) n.340C>G | |
7 | g.21619159C>T | CA453964501 | DNAH11 | c.4314C>T (p.His1438=) c.4329C>T (p.His1443=) n.340C>T | ClinVar dbSNP gnomAD v4 |
7 | g.21619160A= | CA1693571644 | DNAH11 | c.4315A= (p.Arg1439=) c.4330A= (p.Arg1444=) n.341A= | |
7 | g.21619160A>C | CA453964502 | DNAH11 | c.4315A>C (p.Arg1439=) c.4330A>C (p.Arg1444=) n.341A>C | gnomAD v4 |
7 | g.21619160A>G | CA155109086 | DNAH11 | c.4315A>G (p.Arg1439Gly) c.4330A>G (p.Arg1444Gly) n.341A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619160A>T | CA366952600 | DNAH11 | c.4315A>T (p.Arg1439Ter) c.4330A>T (p.Arg1444Ter) n.341A>T | |
7 | g.21619161G>A | CA366952601 | DNAH11 | c.4316G>A (p.Arg1439Lys) c.4331G>A (p.Arg1444Lys) n.342G>A | |
7 | g.21619161G>C | CA366952602 | DNAH11 | c.4316G>C (p.Arg1439Thr) c.4331G>C (p.Arg1444Thr) n.342G>C | dbSNP gnomAD v4 |
7 | g.21619161G= | CA1693571648 | DNAH11 | c.4316G= (p.Arg1439=) c.4331G= (p.Arg1444=) n.342G= | |
7 | g.21619161G>T | CA366952603 | DNAH11 | c.4316G>T (p.Arg1439Ile) c.4331G>T (p.Arg1444Ile) n.342G>T | ClinVar dbSNP |
7 | g.21619162A>C | CA366952605 | DNAH11 | c.4317A>C (p.Arg1439Ser) c.4332A>C (p.Arg1444Ser) n.343A>C | |
7 | g.21619162A>G | CA453964503 | DNAH11 | c.4317A>G (p.Arg1439=) c.4332A>G (p.Arg1444=) n.343A>G | |
7 | g.21619162A>T | CA366952604 | DNAH11 | c.4317A>T (p.Arg1439Ser) c.4332A>T (p.Arg1444Ser) n.343A>T | |
7 | g.21619163G>A | CA366952606 | DNAH11 | c.4318G>A (p.Val1440Met) c.4333G>A (p.Val1445Met) n.344G>A | ClinVar dbSNP gnomAD v4 |
7 | g.21619163G>C | CA4179995 | DNAH11 | c.4318G>C (p.Val1440Leu) c.4333G>C (p.Val1445Leu) n.344G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619163G= | CA1693571653 | DNAH11 | c.4318G= (p.Val1440=) c.4333G= (p.Val1445=) n.344G= | |
7 | g.21619163G>T | CA366952607 | DNAH11 | c.4318G>T (p.Val1440Leu) c.4333G>T (p.Val1445Leu) n.344G>T | |
7 | g.21619168_21619191del | CA2681981372 | DNAH11 | c.4323_4346del (p.Glu1441_Val1448del) c.4338_4361del (p.Glu1446_Val1453del) n.349_372del | gnomAD v4 |
7 | g.21619164T>A | CA366952608 | DNAH11 | c.4319T>A (p.Val1440Glu) c.4334T>A (p.Val1445Glu) n.345T>A | |
7 | g.21619164T>C | CA4179996 | DNAH11 | c.4319T>C (p.Val1440Ala) c.4334T>C (p.Val1445Ala) n.345T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21619164T>G | CA366952609 | DNAH11 | c.4319T>G (p.Val1440Gly) c.4334T>G (p.Val1445Gly) n.345T>G | |
7 | g.21619164T= | CA1693571656 | DNAH11 | c.4319T= (p.Val1440=) c.4334T= (p.Val1445=) n.345T= | |
7 | g.21619165G>A | CA453964504 | DNAH11 | c.4320G>A (p.Val1440=) c.4335G>A (p.Val1445=) n.346G>A | gnomAD v4 |
7 | g.21619165G>C | CA453964505 | DNAH11 | c.4320G>C (p.Val1440=) c.4335G>C (p.Val1445=) n.346G>C | |
7 | g.21619165G>T | CA453964506 | DNAH11 | c.4320G>T (p.Val1440=) c.4335G>T (p.Val1445=) n.346G>T | |
7 | g.21619166G>A | CA366952612 | DNAH11 | c.4321G>A (p.Glu1441Lys) c.4336G>A (p.Glu1446Lys) n.347G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21619166G>C | CA366952610 | DNAH11 | c.4321G>C (p.Glu1441Gln) c.4336G>C (p.Glu1446Gln) n.347G>C | |
7 | g.21619166G= | CA1693571661 | DNAH11 | c.4321G= (p.Glu1441=) c.4336G= (p.Glu1446=) n.347G= | |
7 | g.21619166G>T | CA366952611 | DNAH11 | c.4321G>T (p.Glu1441Ter) c.4336G>T (p.Glu1446Ter) n.347G>T | |
7 | g.21619167A>C | CA366952613 | DNAH11 | c.4322A>C (p.Glu1441Ala) c.4337A>C (p.Glu1446Ala) n.348A>C | |
7 | g.21619167A>G | CA366952614 | DNAH11 | c.4322A>G (p.Glu1441Gly) c.4337A>G (p.Glu1446Gly) n.348A>G | |
7 | g.21619167A>T | CA366952615 | DNAH11 | c.4322A>T (p.Glu1441Val) c.4337A>T (p.Glu1446Val) n.348A>T | |
7 | g.21619168A>C | CA366952616 | DNAH11 | c.4323A>C (p.Glu1441Asp) c.4338A>C (p.Glu1446Asp) n.349A>C | gnomAD v4 |
7 | g.21619168A>G | CA453964507 | DNAH11 | c.4323A>G (p.Glu1441=) c.4338A>G (p.Glu1446=) n.349A>G | |
7 | g.21619168A>T | CA366952617 | DNAH11 | c.4323A>T (p.Glu1441Asp) c.4338A>T (p.Glu1446Asp) n.349A>T | |
7 | g.21619169G>A | CA366952618 | DNAH11 | c.4324G>A (p.Asp1442Asn) c.4339G>A (p.Asp1447Asn) n.350G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619169G>C | CA366952620 | DNAH11 | c.4324G>C (p.Asp1442His) c.4339G>C (p.Asp1447His) n.350G>C | |
7 | g.21619169G= | CA1693571664 | DNAH11 | c.4324G= (p.Asp1442=) c.4339G= (p.Asp1447=) n.350G= | |
7 | g.21619169G>T | CA366952619 | DNAH11 | c.4324G>T (p.Asp1442Tyr) c.4339G>T (p.Asp1447Tyr) n.350G>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21619170A= | CA1693571666 | DNAH11 | c.4325A= (p.Asp1442=) c.4340A= (p.Asp1447=) n.351A= | |
7 | g.21619170A>C | CA366952621 | DNAH11 | c.4325A>C (p.Asp1442Ala) c.4340A>C (p.Asp1447Ala) n.351A>C | |
7 | g.21619170A>G | CA366952622 | DNAH11 | c.4325A>G (p.Asp1442Gly) c.4340A>G (p.Asp1447Gly) n.351A>G | |
7 | g.21619170A>T | CA155109110 | DNAH11 | c.4325A>T (p.Asp1442Val) c.4340A>T (p.Asp1447Val) n.351A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619171T>A | CA366952623 | DNAH11 | c.4326T>A (p.Asp1442Glu) c.4341T>A (p.Asp1447Glu) n.352T>A | |
7 | g.21619171T>C | CA453964508 | DNAH11 | c.4326T>C (p.Asp1442=) c.4341T>C (p.Asp1447=) n.352T>C | gnomAD v4 |
7 | g.21619171T>G | CA366952624 | DNAH11 | c.4326T>G (p.Asp1442Glu) c.4341T>G (p.Asp1447Glu) n.352T>G | |
7 | g.21619172G>A | CA366952625 | DNAH11 | c.4327G>A (p.Asp1443Asn) c.4342G>A (p.Asp1448Asn) n.353G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21619172G>C | CA366952626 | DNAH11 | c.4327G>C (p.Asp1443His) c.4342G>C (p.Asp1448His) n.353G>C | |
7 | g.21619172G= | CA1693571669 | DNAH11 | c.4327G= (p.Asp1443=) c.4342G= (p.Asp1448=) n.353G= | |
7 | g.21619172G>T | CA366952627 | DNAH11 | c.4327G>T (p.Asp1443Tyr) c.4342G>T (p.Asp1448Tyr) n.353G>T | |
7 | g.21619173A>C | CA366952628 | DNAH11 | c.4328A>C (p.Asp1443Ala) c.4343A>C (p.Asp1448Ala) n.354A>C | |
7 | g.21619173A>G | CA366952629 | DNAH11 | c.4328A>G (p.Asp1443Gly) c.4343A>G (p.Asp1448Gly) n.354A>G | |
7 | g.21619173A>T | CA366952630 | DNAH11 | c.4328A>T (p.Asp1443Val) c.4343A>T (p.Asp1448Val) n.354A>T | |
7 | g.21619174T>A | CA366952631 | DNAH11 | c.4329T>A (p.Asp1443Glu) c.4344T>A (p.Asp1448Glu) n.355T>A | |
7 | g.21619174T>C | CA453964509 | DNAH11 | c.4329T>C (p.Asp1443=) c.4344T>C (p.Asp1448=) n.355T>C | ClinVar |
7 | g.21619174T>G | CA366952632 | DNAH11 | c.4329T>G (p.Asp1443Glu) c.4344T>G (p.Asp1448Glu) n.355T>G | |
7 | g.21619175G>A | CA366952633 | DNAH11 | c.4330G>A (p.Val1444Ile) c.4345G>A (p.Val1449Ile) n.356G>A | dbSNP |
7 | g.21619175G>C | CA366952634 | DNAH11 | c.4330G>C (p.Val1444Leu) c.4345G>C (p.Val1449Leu) n.356G>C | gnomAD v4 |
7 | g.21619175G= | CA1693571672 | DNAH11 | c.4330G= (p.Val1444=) c.4345G= (p.Val1449=) n.356G= | |
7 | g.21619175G>T | CA366952635 | DNAH11 | c.4330G>T (p.Val1444Phe) c.4345G>T (p.Val1449Phe) n.356G>T | |
7 | g.21619176T>A | CA366952636 | DNAH11 | c.4331T>A (p.Val1444Asp) c.4346T>A (p.Val1449Asp) n.357T>A | |
7 | g.21619176T>C | CA366952637 | DNAH11 | c.4331T>C (p.Val1444Ala) c.4346T>C (p.Val1449Ala) n.357T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619176T>G | CA366952638 | DNAH11 | c.4331T>G (p.Val1444Gly) c.4346T>G (p.Val1449Gly) n.357T>G | |
7 | g.21619176T= | CA1693571674 | DNAH11 | c.4331T= (p.Val1444=) c.4346T= (p.Val1449=) n.357T= | |
7 | g.21619177C>A | CA453964510 | DNAH11 | c.4332C>A (p.Val1444=) c.4347C>A (p.Val1449=) n.358C>A | |
7 | g.21619177C>G | CA453964512 | DNAH11 | c.4332C>G (p.Val1444=) c.4347C>G (p.Val1449=) n.358C>G | ClinVar |
7 | g.21619177C>T | CA453964511 | DNAH11 | c.4332C>T (p.Val1444=) c.4347C>T (p.Val1449=) n.358C>T | |
7 | g.21619178C>A | CA453964513 | DNAH11 | c.4333C>A (p.Arg1445=) c.4348C>A (p.Arg1450=) n.359C>A | |
7 | g.21619178C= | CA1693571677 | DNAH11 | c.4333C= (p.Arg1445=) c.4348C= (p.Arg1450=) n.359C= | |
7 | g.21619178C>G | CA366952639 | DNAH11 | c.4333C>G (p.Arg1445Gly) c.4348C>G (p.Arg1450Gly) n.359C>G | |
7 | g.21619178C>T | CA4179997 | DNAH11 | c.4333C>T (p.Arg1445Ter) c.4348C>T (p.Arg1450Ter) n.359C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21619179G>A | CA4179998 | DNAH11 | c.4334G>A (p.Arg1445Gln) c.4349G>A (p.Arg1450Gln) n.360G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21619179G>C | CA366952640 | DNAH11 | c.4334G>C (p.Arg1445Pro) c.4349G>C (p.Arg1450Pro) n.360G>C | |
7 | g.21619179G= | CA1693571683 | DNAH11 | c.4334G= (p.Arg1445=) c.4349G= (p.Arg1450=) n.360G= | |
7 | g.21619179G>T | CA366952641 | DNAH11 | c.4334G>T (p.Arg1445Leu) c.4349G>T (p.Arg1450Leu) n.360G>T | |
7 | g.21619180A= | CA1693571686 | DNAH11 | c.4335A= (p.Arg1445=) c.4350A= (p.Arg1450=) n.361A= | |
7 | g.21619180A>C | CA4179999 | DNAH11 | c.4335A>C (p.Arg1445=) c.4350A>C (p.Arg1450=) n.361A>C | dbSNP ExAC gnomAD v2 |
7 | g.21619180A>G | CA453964514 | DNAH11 | c.4335A>G (p.Arg1445=) c.4350A>G (p.Arg1450=) n.361A>G | gnomAD v4 |
7 | g.21619180A>T | CA453964515 | DNAH11 | c.4335A>T (p.Arg1445=) c.4350A>T (p.Arg1450=) n.361A>T | |
7 | g.21619181A>C | CA453964516 | DNAH11 | c.4336A>C (p.Arg1446=) c.4351A>C (p.Arg1451=) n.362A>C | |
7 | g.21619181A>G | CA366952642 | DNAH11 | c.4336A>G (p.Arg1446Gly) c.4351A>G (p.Arg1451Gly) n.362A>G | |
7 | g.21619181A>T | CA366952643 | DNAH11 | c.4336A>T (p.Arg1446Trp) c.4351A>T (p.Arg1451Trp) n.362A>T | COSMIC |
7 | g.21619182G>A | CA366952645 | DNAH11 | c.4337G>A (p.Arg1446Lys) c.4352G>A (p.Arg1451Lys) n.363G>A | |
7 | g.21619182G>C | CA155109129 | DNAH11 | c.4337G>C (p.Arg1446Thr) c.4352G>C (p.Arg1451Thr) n.363G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21619182G= | CA1693571688 | DNAH11 | c.4337G= (p.Arg1446=) c.4352G= (p.Arg1451=) n.363G= | |
7 | g.21619182G>T | CA366952644 | DNAH11 | c.4337G>T (p.Arg1446Met) c.4352G>T (p.Arg1451Met) n.363G>T | dbSNP gnomAD v2 |
7 | g.21619183del | CA2681981373 | DNAH11 | c.4338del (p.Ile1447LeufsTer6) c.4353del (p.Ile1452LeufsTer6) n.364del | gnomAD v4 |
7 | g.21619183G>A | CA453964517 | DNAH11 | c.4338G>A (p.Arg1446=) c.4353G>A (p.Arg1451=) n.364G>A | dbSNP |
7 | g.21619183G>C | CA366952646 | DNAH11 | c.4338G>C (p.Arg1446Ser) c.4353G>C (p.Arg1451Ser) n.364G>C | |
7 | g.21619183G= | CA1693571691 | DNAH11 | c.4338G= (p.Arg1446=) c.4353G= (p.Arg1451=) n.364G= | |
7 | g.21619183G>T | CA366952647 | DNAH11 | c.4338G>T (p.Arg1446Ser) c.4353G>T (p.Arg1451Ser) n.364G>T | gnomAD v4 |
7 | g.21619184A= | CA1693571693 | DNAH11 | c.4339A= (p.Ile1447=) c.4354A= (p.Ile1452=) n.365A= | |
7 | g.21619184A>C | CA366952648 | DNAH11 | c.4339A>C (p.Ile1447Leu) c.4354A>C (p.Ile1452Leu) n.365A>C | |
7 | g.21619184A>G | CA366952649 | DNAH11 | c.4339A>G (p.Ile1447Val) c.4354A>G (p.Ile1452Val) n.365A>G | dbSNP gnomAD v4 |
7 | g.21619184A>T | CA366952650 | DNAH11 | c.4339A>T (p.Ile1447Phe) c.4354A>T (p.Ile1452Phe) n.365A>T | |
7 | g.21619185T>A | CA366952651 | DNAH11 | c.4340T>A (p.Ile1447Asn) c.4355T>A (p.Ile1452Asn) n.366T>A | |
7 | g.21619185T>C | CA366952652 | DNAH11 | c.4340T>C (p.Ile1447Thr) c.4355T>C (p.Ile1452Thr) n.366T>C | gnomAD v4 |
7 | g.21619185T>G | CA366952653 | DNAH11 | c.4340T>G (p.Ile1447Ser) c.4355T>G (p.Ile1452Ser) n.366T>G | |
7 | g.21619186T>A | CA453964518 | DNAH11 | c.4341T>A (p.Ile1447=) c.4356T>A (p.Ile1452=) n.367T>A | |
7 | g.21619186T>C | CA453964519 | DNAH11 | c.4341T>C (p.Ile1447=) c.4356T>C (p.Ile1452=) n.367T>C | |
7 | g.21619186T>G | CA366952654 | DNAH11 | c.4341T>G (p.Ile1447Met) c.4356T>G (p.Ile1452Met) n.367T>G | |
7 | g.21619187G>A | CA366952655 | DNAH11 | c.4342G>A (p.Val1448Met) c.4357G>A (p.Val1453Met) n.368G>A | |
7 | g.21619187G>C | CA366952656 | DNAH11 | c.4342G>C (p.Val1448Leu) c.4357G>C (p.Val1453Leu) n.368G>C | |
7 | g.21619187G>T | CA366952657 | DNAH11 | c.4342G>T (p.Val1448Leu) c.4357G>T (p.Val1453Leu) n.368G>T | |
7 | g.21619188T>A | CA366952658 | DNAH11 | c.4343T>A (p.Val1448Glu) c.4358T>A (p.Val1453Glu) n.369T>A | |
7 | g.21619188T>C | CA366952660 | DNAH11 | c.4343T>C (p.Val1448Ala) c.4358T>C (p.Val1453Ala) n.369T>C | |
7 | g.21619188T>G | CA366952659 | DNAH11 | c.4343T>G (p.Val1448Gly) c.4358T>G (p.Val1453Gly) n.369T>G | |
7 | g.21619189G>A | CA453964520 | DNAH11 | c.4344G>A (p.Val1448=) c.4359G>A (p.Val1453=) n.370G>A | |
7 | g.21619189G>C | CA453964521 | DNAH11 | c.4344G>C (p.Val1448=) c.4359G>C (p.Val1453=) n.370G>C | |
7 | g.21619189G>T | CA453964522 | DNAH11 | c.4344G>T (p.Val1448=) c.4359G>T (p.Val1453=) n.370G>T | |
7 | g.21619190G>A | CA366952661 | DNAH11 | c.4345G>A (p.Asp1449Asn) c.4360G>A (p.Asp1454Asn) n.371G>A | |
7 | g.21619190G>C | CA4180000 | DNAH11 | c.4345G>C (p.Asp1449His) c.4360G>C (p.Asp1454His) n.371G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619190G= | CA1693571696 | DNAH11 | c.4345G= (p.Asp1449=) c.4360G= (p.Asp1454=) n.371G= | |
7 | g.21619190G>T | CA366952662 | DNAH11 | c.4345G>T (p.Asp1449Tyr) c.4360G>T (p.Asp1454Tyr) n.371G>T | gnomAD v4 |
7 | g.21619191A>C | CA366952663 | DNAH11 | c.4346A>C (p.Asp1449Ala) c.4361A>C (p.Asp1454Ala) n.372A>C | |
7 | g.21619191A>G | CA366952664 | DNAH11 | c.4346A>G (p.Asp1449Gly) c.4361A>G (p.Asp1454Gly) n.372A>G | gnomAD v4 |
7 | g.21619191A>T | CA366952665 | DNAH11 | c.4346A>T (p.Asp1449Val) c.4361A>T (p.Asp1454Val) n.372A>T | |
7 | g.21619192C>A | CA366952666 | DNAH11 | c.4347C>A (p.Asp1449Glu) c.4362C>A (p.Asp1454Glu) n.373C>A | |
7 | g.21619192C>G | CA366952667 | DNAH11 | c.4347C>G (p.Asp1449Glu) c.4362C>G (p.Asp1454Glu) n.373C>G | gnomAD v4 |
7 | g.21619192C>T | CA453964523 | DNAH11 | c.4347C>T (p.Asp1449=) c.4362C>T (p.Asp1454=) n.373C>T | |
7 | g.21619193A>C | CA366952668 | DNAH11 | c.4348A>C (p.Lys1450Gln) c.4363A>C (p.Lys1455Gln) n.374A>C | |
7 | g.21619193A>G | CA366952669 | DNAH11 | c.4348A>G (p.Lys1450Glu) c.4363A>G (p.Lys1455Glu) n.374A>G | gnomAD v4 |
7 | g.21619193A>T | CA366952670 | DNAH11 | c.4348A>T (p.Lys1450Ter) c.4363A>T (p.Lys1455Ter) n.374A>T | |
7 | g.21619194A>C | CA366952673 | DNAH11 | c.4349A>C (p.Lys1450Thr) c.4364A>C (p.Lys1455Thr) n.375A>C | |
7 | g.21619194A>G | CA366952672 | DNAH11 | c.4349A>G (p.Lys1450Arg) c.4364A>G (p.Lys1455Arg) n.375A>G | |
7 | g.21619194A>T | CA366952671 | DNAH11 | c.4349A>T (p.Lys1450Met) c.4364A>T (p.Lys1455Met) n.375A>T | gnomAD v4 |
7 | g.21619195G>A | CA453964524 | DNAH11 | c.4350G>A (p.Lys1450=) c.4365G>A (p.Lys1455=) n.376G>A | |
7 | g.21619195G>C | CA366952674 | DNAH11 | c.4350G>C (p.Lys1450Asn) c.4365G>C (p.Lys1455Asn) n.376G>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21619195G= | CA1693571700 | DNAH11 | c.4350G= (p.Lys1450=) c.4365G= (p.Lys1455=) n.376G= | |
7 | g.21619195G>T | CA366952675 | DNAH11 | c.4350G>T (p.Lys1450Asn) c.4365G>T (p.Lys1455Asn) n.376G>T | |
7 | g.21619196G>A | CA155109155 | DNAH11 | c.4351G>A (p.Ala1451Thr) c.4366G>A (p.Ala1456Thr) n.377G>A | dbSNP gnomAD v4 |
7 | g.21619196G>C | CA366952677 | DNAH11 | c.4351G>C (p.Ala1451Pro) c.4366G>C (p.Ala1456Pro) n.377G>C | |
7 | g.21619196G= | CA1693571702 | DNAH11 | c.4351G= (p.Ala1451=) c.4366G= (p.Ala1456=) n.377G= | |
7 | g.21619196G>T | CA366952678 | DNAH11 | c.4351G>T (p.Ala1451Ser) c.4366G>T (p.Ala1456Ser) n.377G>T | |
7 | g.21619197C>A | CA366952679 | DNAH11 | c.4352C>A (p.Ala1451Glu) c.4367C>A (p.Ala1456Glu) n.378C>A | gnomAD v4 |
7 | g.21619197C= | CA1693571705 | DNAH11 | c.4352C= (p.Ala1451=) c.4367C= (p.Ala1456=) n.378C= | |
7 | g.21619197C>G | CA366952680 | DNAH11 | c.4352C>G (p.Ala1451Gly) c.4367C>G (p.Ala1456Gly) n.378C>G | |
7 | g.21619197C>T | CA4180001 | DNAH11 | c.4352C>T (p.Ala1451Val) c.4367C>T (p.Ala1456Val) n.378C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21619198G>A | CA4180002 | DNAH11 | c.4353G>A (p.Ala1451=) c.4368G>A (p.Ala1456=) n.379G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21619198G>C | CA453964525 | DNAH11 | c.4353G>C (p.Ala1451=) c.4368G>C (p.Ala1456=) n.379G>C | dbSNP gnomAD v4 |
7 | g.21619198G= | CA1693571709 | DNAH11 | c.4353G= (p.Ala1451=) c.4368G= (p.Ala1456=) n.379G= | |
7 | g.21619198G>T | CA453964526 | DNAH11 | c.4353G>T (p.Ala1451=) c.4368G>T (p.Ala1456=) n.379G>T | |
7 | g.21619199G>A | CA366952681 | DNAH11 | c.4354G>A (p.Val1452Met) c.4369G>A (p.Val1457Met) n.380G>A | gnomAD v4 |
7 | g.21619199G>C | CA366952682 | DNAH11 | c.4354G>C (p.Val1452Leu) c.4369G>C (p.Val1457Leu) n.380G>C | |
7 | g.21619199G= | CA1693571714 | DNAH11 | c.4354G= (p.Val1452=) c.4369G= (p.Val1457=) n.380G= | |
7 | g.21619199G>T | CA366952683 | DNAH11 | c.4354G>T (p.Val1452Leu) c.4369G>T (p.Val1457Leu) n.380G>T | dbSNP |
7 | g.21619200T>A | CA366952685 | DNAH11 | c.4355T>A (p.Val1452Glu) c.4370T>A (p.Val1457Glu) n.381T>A | |
7 | g.21619200T>C | CA155109175 | DNAH11 | c.4355T>C (p.Val1452Ala) c.4370T>C (p.Val1457Ala) n.381T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619200T>G | CA366952684 | DNAH11 | c.4355T>G (p.Val1452Gly) c.4370T>G (p.Val1457Gly) n.381T>G | |
7 | g.21619200T= | CA1693571718 | DNAH11 | c.4355T= (p.Val1452=) c.4370T= (p.Val1457=) n.381T= | |
7 | g.21619201G>A | CA453964527 | DNAH11 | c.4356G>A (p.Val1452=) c.4371G>A (p.Val1457=) n.382G>A | |
7 | g.21619201G>C | CA453964528 | DNAH11 | c.4356G>C (p.Val1452=) c.4371G>C (p.Val1457=) n.382G>C | |
7 | g.21619201G>T | CA453964529 | DNAH11 | c.4356G>T (p.Val1452=) c.4371G>T (p.Val1457=) n.382G>T | |
7 | g.21619202A>C | CA366952686 | DNAH11 | c.4357A>C (p.Lys1453Gln) c.4372A>C (p.Lys1458Gln) n.383A>C | |
7 | g.21619202A>G | CA366952688 | DNAH11 | c.4357A>G (p.Lys1453Glu) c.4372A>G (p.Lys1458Glu) n.383A>G | |
7 | g.21619202A>T | CA366952687 | DNAH11 | c.4357A>T (p.Lys1453Ter) c.4372A>T (p.Lys1458Ter) n.383A>T | |
7 | g.21619203A= | CA1693571721 | DNAH11 | c.4358A= (p.Lys1453=) c.4373A= (p.Lys1458=) n.384A= | |
7 | g.21619203A>C | CA366952689 | DNAH11 | c.4358A>C (p.Lys1453Thr) c.4373A>C (p.Lys1458Thr) n.384A>C | |
7 | g.21619203A>G | CA366952691 | DNAH11 | c.4358A>G (p.Lys1453Arg) c.4373A>G (p.Lys1458Arg) n.384A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619203A>T | CA366952690 | DNAH11 | c.4358A>T (p.Lys1453Ile) c.4373A>T (p.Lys1458Ile) n.384A>T | |
7 | g.21619204A= | CA1693571724 | DNAH11 | c.4359A= (p.Lys1453=) c.4374A= (p.Lys1458=) n.385A= | |
7 | g.21619204A>C | CA366952692 | DNAH11 | c.4359A>C (p.Lys1453Asn) c.4374A>C (p.Lys1458Asn) n.385A>C | |
7 | g.21619204A>G | CA453964530 | DNAH11 | c.4359A>G (p.Lys1453=) c.4374A>G (p.Lys1458=) n.385A>G | |
7 | g.21619204A>T | CA366952693 | DNAH11 | c.4359A>T (p.Lys1453Asn) c.4374A>T (p.Lys1458Asn) n.385A>T | |
7 | g.21619204_21619205insT | CA917960907 | DNAH11 | c.4359_4360insT (p.Glu1454Ter) c.4374_4375insT (p.Glu1459Ter) n.385_386insT | dbSNP |
7 | g.21619205G>A | CA366952694 | DNAH11 | c.4360G>A (p.Glu1454Lys) c.4375G>A (p.Glu1459Lys) n.386G>A | |
7 | g.21619205G>C | CA155109176 | DNAH11 | c.4360G>C (p.Glu1454Gln) c.4375G>C (p.Glu1459Gln) n.386G>C | dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.21619205G= | CA1693571728 | DNAH11 | c.4360G= (p.Glu1454=) c.4375G= (p.Glu1459=) n.386G= | |
7 | g.21619205G>T | CA366952695 | DNAH11 | c.4360G>T (p.Glu1454Ter) c.4375G>T (p.Glu1459Ter) n.386G>T | gnomAD v4 |
7 | g.21619206A= | CA1693571730 | DNAH11 | c.4361A= (p.Glu1454=) c.4376A= (p.Glu1459=) n.387A= | |
7 | g.21619206A>C | CA366952696 | DNAH11 | c.4361A>C (p.Glu1454Ala) c.4376A>C (p.Glu1459Ala) n.387A>C | |
7 | g.21619206A>G | CA366952697 | DNAH11 | c.4361A>G (p.Glu1454Gly) c.4376A>G (p.Glu1459Gly) n.387A>G | |
7 | g.21619206A>T | CA366952698 | DNAH11 | c.4361A>T (p.Glu1454Val) c.4376A>T (p.Glu1459Val) n.387A>T | |
7 | g.21619206_21619207insATCTTAACTAAAATATACTCAAGTCAGGT | CA917960908 | DNAH11 | c.4361_4362insATCTTAACTAAAATATACTCAAGTCAGGT (p.Leu1455SerfsTer2) c.4376_4377insATCTTAACTAAAATATACTCAAGTCAGGT (p.Leu1460SerfsTer2) n.387_388insATCTTAACTAAAATATACTCAAGTCAGGT | dbSNP |
7 | g.21619207G>A | CA453964531 | DNAH11 | c.4362G>A (p.Glu1454=) c.4377G>A (p.Glu1459=) n.388G>A | |
7 | g.21619207G>C | CA366952699 | DNAH11 | c.4362G>C (p.Glu1454Asp) c.4377G>C (p.Glu1459Asp) n.388G>C | |
7 | g.21619207G>T | CA366952700 | DNAH11 | c.4362G>T (p.Glu1454Asp) c.4377G>T (p.Glu1459Asp) n.388G>T | |
7 | g.21619208C>A | CA366952701 | DNAH11 | c.4363C>A (p.Leu1455Met) c.4378C>A (p.Leu1460Met) n.389C>A | |
7 | g.21619208C>G | CA366952702 | DNAH11 | c.4363C>G (p.Leu1455Val) c.4378C>G (p.Leu1460Val) n.389C>G | |
7 | g.21619208C>T | CA453964533 | DNAH11 | c.4363C>T (p.Leu1455=) c.4378C>T (p.Leu1460=) n.389C>T | |
7 | g.21619209T>A | CA366952705 | DNAH11 | c.4364T>A (p.Leu1455Gln) c.4379T>A (p.Leu1460Gln) n.390T>A | |
7 | g.21619209T>C | CA366952703 | DNAH11 | c.4364T>C (p.Leu1455Pro) c.4379T>C (p.Leu1460Pro) n.390T>C | |
7 | g.21619209T>G | CA366952704 | DNAH11 | c.4364T>G (p.Leu1455Arg) c.4379T>G (p.Leu1460Arg) n.390T>G | |
7 | g.21619209_21619210delinsCT | CA2580076956 | DNAH11 | c.4364_4365delinsCT (p.Leu1455Pro) c.4379_4380delinsCT (p.Leu1460Pro) n.390_391delinsCT | ClinVar |
7 | g.21619210G>A | CA453964534 | DNAH11 | c.4365G>A (p.Leu1455=) c.4380G>A (p.Leu1460=) n.391G>A | ClinVar dbSNP |
7 | g.21619210G>C | CA453964535 | DNAH11 | c.4365G>C (p.Leu1455=) c.4380G>C (p.Leu1460=) n.391G>C | gnomAD v4 |
7 | g.21619210G= | CA1693571735 | DNAH11 | c.4365G= (p.Leu1455=) c.4380G= (p.Leu1460=) n.391G= | |
7 | g.21619210G>T | CA453964536 | DNAH11 | c.4365G>T (p.Leu1455=) c.4380G>T (p.Leu1460=) n.391G>T | |
7 | g.21619211G>A | CA366952706 | DNAH11 | c.4366G>A (p.Gly1456Arg) c.4381G>A (p.Gly1461Arg) n.392G>A | |
7 | g.21619211G>C | CA366952707 | DNAH11 | c.4366G>C (p.Gly1456Arg) c.4381G>C (p.Gly1461Arg) n.392G>C | |
7 | g.21619211G>T | CA366952708 | DNAH11 | c.4366G>T (p.Gly1456Trp) c.4381G>T (p.Gly1461Trp) n.392G>T | |
7 | g.21619212G>A | CA366952709 | DNAH11 | c.4367G>A (p.Gly1456Glu) c.4382G>A (p.Gly1461Glu) n.393G>A | |
7 | g.21619212G>C | CA366952710 | DNAH11 | c.4367G>C (p.Gly1456Ala) c.4382G>C (p.Gly1461Ala) n.393G>C | |
7 | g.21619212G>T | CA366952711 | DNAH11 | c.4367G>T (p.Gly1456Val) c.4382G>T (p.Gly1461Val) n.393G>T | |
7 | g.21619213G>A | CA453964538 | DNAH11 | c.4368G>A (p.Gly1456=) c.4383G>A (p.Gly1461=) n.394G>A | ClinVar gnomAD v4 |
7 | g.21619213G>C | CA453964537 | DNAH11 | c.4368G>C (p.Gly1456=) c.4383G>C (p.Gly1461=) n.394G>C | |
7 | g.21619213G= | CA1693571737 | DNAH11 | c.4368G= (p.Gly1456=) c.4383G= (p.Gly1461=) n.394G= | |
7 | g.21619213G>T | CA4180003 | DNAH11 | c.4368G>T (p.Gly1456=) c.4383G>T (p.Gly1461=) n.394G>T | dbSNP ExAC gnomAD v2 |
7 | g.21619214A>C | CA366952712 | DNAH11 | c.4369A>C (p.Thr1457Pro) c.4384A>C (p.Thr1462Pro) n.395A>C | |
7 | g.21619214A>G | CA366952713 | DNAH11 | c.4369A>G (p.Thr1457Ala) c.4384A>G (p.Thr1462Ala) n.395A>G | |
7 | g.21619214A>T | CA366952714 | DNAH11 | c.4369A>T (p.Thr1457Ser) c.4384A>T (p.Thr1462Ser) n.395A>T | |
7 | g.21619215C>A | CA366952716 | DNAH11 | c.4370C>A (p.Thr1457Asn) c.4385C>A (p.Thr1462Asn) n.396C>A | |
7 | g.21619215C= | CA1693571740 | DNAH11 | c.4370C= (p.Thr1457=) c.4385C= (p.Thr1462=) n.396C= | |
7 | g.21619215C>G | CA366952715 | DNAH11 | c.4370C>G (p.Thr1457Ser) c.4385C>G (p.Thr1462Ser) n.396C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619215C>T | CA4180004 | DNAH11 | c.4370C>T (p.Thr1457Ile) c.4385C>T (p.Thr1462Ile) n.396C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619216T>A | CA453964539 | DNAH11 | c.4371T>A (p.Thr1457=) c.4386T>A (p.Thr1462=) n.397T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21619216T>C | CA453964540 | DNAH11 | c.4371T>C (p.Thr1457=) c.4386T>C (p.Thr1462=) n.397T>C | |
7 | g.21619216T>G | CA453964541 | DNAH11 | c.4371T>G (p.Thr1457=) c.4386T>G (p.Thr1462=) n.397T>G | |
7 | g.21619216T= | CA1693571744 | DNAH11 | c.4371T= (p.Thr1457=) c.4386T= (p.Thr1462=) n.397T= | |
7 | g.21619217G>A | CA366952717 | DNAH11 | c.4372G>A (p.Glu1458Lys) c.4387G>A (p.Glu1463Lys) n.398G>A | |
7 | g.21619217G>C | CA366952718 | DNAH11 | c.4372G>C (p.Glu1458Gln) c.4387G>C (p.Glu1463Gln) n.398G>C | |
7 | g.21619217G>T | CA366952719 | DNAH11 | c.4372G>T (p.Glu1458Ter) c.4387G>T (p.Glu1463Ter) n.398G>T | |
7 | g.21619219_21619220dup | CA1693571746 | DNAH11 | c.4374_4375dup (p.Lys1459ArgfsTer14) c.4389_4390dup (p.Lys1464ArgfsTer14) n.400_401dup | dbSNP |
7 | g.21619218A>C | CA366952720 | DNAH11 | c.4373A>C (p.Glu1458Ala) c.4388A>C (p.Glu1463Ala) n.399A>C | |
7 | g.21619218A>G | CA366952721 | DNAH11 | c.4373A>G (p.Glu1458Gly) c.4388A>G (p.Glu1463Gly) n.399A>G | |
7 | g.21619218A>T | CA366952722 | DNAH11 | c.4373A>T (p.Glu1458Val) c.4388A>T (p.Glu1463Val) n.399A>T | |
7 | g.21619219G>A | CA453964542 | DNAH11 | c.4374G>A (p.Glu1458=) c.4389G>A (p.Glu1463=) n.400G>A | |
7 | g.21619219G>C | CA366952723 | DNAH11 | c.4374G>C (p.Glu1458Asp) c.4389G>C (p.Glu1463Asp) n.400G>C | |
7 | g.21619219G>T | CA366952724 | DNAH11 | c.4374G>T (p.Glu1458Asp) c.4389G>T (p.Glu1463Asp) n.400G>T | |
7 | g.21619220A>C | CA366952725 | DNAH11 | c.4375A>C (p.Lys1459Gln) c.4390A>C (p.Lys1464Gln) n.401A>C | |
7 | g.21619220A>G | CA366952726 | DNAH11 | c.4375A>G (p.Lys1459Glu) c.4390A>G (p.Lys1464Glu) n.401A>G | |
7 | g.21619220A>T | CA366952727 | DNAH11 | c.4375A>T (p.Lys1459Ter) c.4390A>T (p.Lys1464Ter) n.401A>T | |
7 | g.21619221A>C | CA366952730 | DNAH11 | c.4376A>C (p.Lys1459Thr) c.4391A>C (p.Lys1464Thr) n.402A>C | |
7 | g.21619221A>G | CA366952729 | DNAH11 | c.4376A>G (p.Lys1459Arg) c.4391A>G (p.Lys1464Arg) n.402A>G | |
7 | g.21619221A>T | CA366952728 | DNAH11 | c.4376A>T (p.Lys1459Met) c.4391A>T (p.Lys1464Met) n.402A>T | |
7 | g.21619222G>A | CA453964543 | DNAH11 | c.4377G>A (p.Lys1459=) c.4392G>A (p.Lys1464=) n.403G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.21619222G>C | CA366952731 | DNAH11 | c.4377G>C (p.Lys1459Asn) c.4392G>C (p.Lys1464Asn) n.403G>C | gnomAD v4 |
7 | g.21619222G= | CA1693571750 | DNAH11 | c.4377G= (p.Lys1459=) c.4392G= (p.Lys1464=) n.403G= | |
7 | g.21619222G>T | CA366952732 | DNAH11 | c.4377G>T (p.Lys1459Asn) c.4392G>T (p.Lys1464Asn) n.403G>T | |
7 | g.21619223G>A | CA366952733 | DNAH11 | c.4377+1G>A (n.4377+1G>A) c.4392+1G>A (n.4392+1G>A) n.403+1G>A | ClinVar |
7 | g.21619223G>C | CA366952734 | DNAH11 | c.4377+1G>C (n.4377+1G>C) c.4392+1G>C (n.4392+1G>C) n.403+1G>C | |
7 | g.21619223G>T | CA366952735 | DNAH11 | c.4377+1G>T (n.4377+1G>T) c.4392+1G>T (n.4392+1G>T) n.403+1G>T | gnomAD v4 |
7 | g.21619224T>A | CA366952736 | DNAH11 | c.4377+2T>A (n.4377+2T>A) c.4392+2T>A (n.4392+2T>A) n.403+2T>A | |
7 | g.21619224T>C | CA155109183 | DNAH11 | c.4377+2T>C (n.4377+2T>C) c.4392+2T>C (n.4392+2T>C) n.403+2T>C | dbSNP gnomAD v4 |
7 | g.21619224T>G | CA366952737 | DNAH11 | c.4377+2T>G (n.4377+2T>G) c.4392+2T>G (n.4392+2T>G) n.403+2T>G | |
7 | g.21619224T= | CA1693571756 | DNAH11 | c.4377+2T= (n.4377+2T=) c.4392+2T= (n.4392+2T=) n.403+2T= | |
7 | g.21619225A>G | CA2681981374 | DNAH11 | c.4377+3A>G (n.4377+3A>G) c.4392+3A>G (n.4392+3A>G) n.403+3A>G | gnomAD v4 |
7 | g.21619226G>C | CA4180005 | DNAH11 | c.4377+4G>C (n.4377+4G>C) c.4392+4G>C (n.4392+4G>C) n.403+4G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21619226G= | CA1693571763 | DNAH11 | c.4377+4G= (n.4377+4G=) c.4392+4G= (n.4392+4G=) n.403+4G= | |
7 | g.21619227T>A | CA2681981375 | DNAH11 | c.4377+5T>A (n.4377+5T>A) c.4392+5T>A (n.4392+5T>A) n.403+5T>A | gnomAD v4 |
7 | g.21619227T>C | CA2681981376 | DNAH11 | c.4377+5T>C (n.4377+5T>C) c.4392+5T>C (n.4392+5T>C) n.403+5T>C | gnomAD v4 |
7 | g.21619228G>A | CA4180006 | DNAH11 | c.4377+6G>A (n.4377+6G>A) c.4392+6G>A (n.4392+6G>A) n.403+6G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21619228G= | CA1693571766 | DNAH11 | c.4377+6G= (n.4377+6G=) c.4392+6G= (n.4392+6G=) n.403+6G= | |
7 | g.21619229T>G | CA4180007 | DNAH11 | c.4377+7T>G (n.4377+7T>G) c.4392+7T>G (n.4392+7T>G) n.403+7T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619229T= | CA1693571768 | DNAH11 | c.4377+7T= (n.4377+7T=) c.4392+7T= (n.4392+7T=) n.403+7T= | |
7 | g.21619230C= | CA1693571770 | DNAH11 | c.4377+8C= (n.4377+8C=) c.4392+8C= (n.4392+8C=) n.403+8C= | |
7 | g.21619230C>T | CA572917805 | DNAH11 | c.4377+8C>T (n.4377+8C>T) c.4392+8C>T (n.4392+8C>T) n.403+8C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21619231C= | CA1693571773 | DNAH11 | c.4377+9C= (n.4377+9C=) c.4392+9C= (n.4392+9C=) n.403+9C= | |
7 | g.21619231C>G | CA4180008 | DNAH11 | c.4377+9C>G (n.4377+9C>G) c.4392+9C>G (n.4392+9C>G) n.403+9C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21619231C>T | CA155109201 | DNAH11 | c.4377+9C>T (n.4377+9C>T) c.4392+9C>T (n.4392+9C>T) n.403+9C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619232T>G | CA4180009 | DNAH11 | c.4377+10T>G (n.4377+10T>G) c.4392+10T>G (n.4392+10T>G) n.403+10T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619232T= | CA1693571774 | DNAH11 | c.4377+10T= (n.4377+10T=) c.4392+10T= (n.4392+10T=) n.403+10T= | |
7 | g.21619233C= | CA1693571776 | DNAH11 | c.4377+11C= (n.4377+11C=) c.4392+11C= (n.4392+11C=) n.403+11C= | |
7 | g.21619233C>T | CA4180010 | DNAH11 | c.4377+11C>T (n.4377+11C>T) c.4392+11C>T (n.4392+11C>T) n.403+11C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619234G>A | CA4180011 | DNAH11 | c.4377+12G>A (n.4377+12G>A) c.4392+12G>A (n.4392+12G>A) n.403+12G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619234G>C | CA2578842731 | DNAH11 | c.4377+12G>C (n.4377+12G>C) c.4392+12G>C (n.4392+12G>C) n.403+12G>C | ClinVar gnomAD v4 |
7 | g.21619234G= | CA1693571778 | DNAH11 | c.4377+12G= (n.4377+12G=) c.4392+12G= (n.4392+12G=) n.403+12G= | |
7 | g.21619234G>T | CA2518458995 | DNAH11 | c.4377+12G>T (n.4377+12G>T) c.4392+12G>T (n.4392+12G>T) n.403+12G>T | gnomAD v4 |
7 | g.21619235G>A | CA2681981377 | DNAH11 | c.4377+13G>A (n.4377+13G>A) c.4392+13G>A (n.4392+13G>A) n.403+13G>A | gnomAD v4 |
7 | g.21619236G= | CA1693571781 | DNAH11 | c.4377+14G= (n.4377+14G=) c.4392+14G= (n.4392+14G=) n.403+14G= | |
7 | g.21619236G>T | CA4180012 | DNAH11 | c.4377+14G>T (n.4377+14G>T) c.4392+14G>T (n.4392+14G>T) n.403+14G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619237A= | CA1693571783 | DNAH11 | c.4377+15A= (n.4377+15A=) c.4392+15A= (n.4392+15A=) n.403+15A= | |
7 | g.21619237A>C | CA2580726144 | DNAH11 | c.4377+15A>C (n.4377+15A>C) c.4392+15A>C (n.4392+15A>C) n.403+15A>C | |
7 | g.21619237A>G | CA147209 | DNAH11 | c.4377+15A>G (n.4377+15A>G) c.4392+15A>G (n.4392+15A>G) n.403+15A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619237A>T | CA1693571784 | DNAH11 | c.4377+15A>T (n.4377+15A>T) c.4392+15A>T (n.4392+15A>T) n.403+15A>T | dbSNP |
7 | g.21619238C>T | CA2681981378 | DNAH11 | c.4377+16C>T (n.4377+16C>T) c.4392+16C>T (n.4392+16C>T) n.403+16C>T | ClinVar gnomAD v4 |
7 | g.21619240G>C | CA4180013 | DNAH11 | c.4377+18G>C (n.4377+18G>C) c.4392+18G>C (n.4392+18G>C) n.403+18G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21619240G= | CA1693571788 | DNAH11 | c.4377+18G= (n.4377+18G=) c.4392+18G= (n.4392+18G=) n.403+18G= | |
7 | g.21619242del | CA2681981379 | DNAH11 | c.4377+20del (n.4377+20del) c.4392+20del (n.4392+20del) n.403+20del | gnomAD v4 |
7 | g.21619241G>A | CA2681981380 | DNAH11 | c.4377+19G>A (n.4377+19G>A) c.4392+19G>A (n.4392+19G>A) n.403+19G>A | gnomAD v4 |
7 | g.21619241G>T | CA651417376 | DNAH11 | c.4377+19G>T (n.4377+19G>T) c.4392+19G>T (n.4392+19G>T) n.403+19G>T | COSMIC |
7 | g.21619242G>A | CA4180014 | DNAH11 | c.4377+20G>A (n.4377+20G>A) c.4392+20G>A (n.4392+20G>A) n.403+20G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619242G= | CA1693571791 | DNAH11 | c.4377+20G= (n.4377+20G=) c.4392+20G= (n.4392+20G=) n.403+20G= | |
7 | g.21619242G>T | CA572917809 | DNAH11 | c.4377+20G>T (n.4377+20G>T) c.4392+20G>T (n.4392+20G>T) n.403+20G>T | dbSNP gnomAD v2 gnomAD v4 |