Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21619104A>C | CA366952491 | DNAH11 | c.4259A>C (p.Lys1420Thr) c.4274A>C (p.Lys1425Thr) n.285A>C | ClinVar COSMIC COSMIC |
7 | g.21619104A>G | CA366952492 | DNAH11 | c.4259A>G (p.Lys1420Arg) c.4274A>G (p.Lys1425Arg) n.285A>G | gnomAD v4 |
7 | g.21619104A>T | CA366952490 | DNAH11 | c.4259A>T (p.Lys1420Met) c.4274A>T (p.Lys1425Met) n.285A>T | gnomAD v4 |
7 | g.21619105G>A | CA4179981 | DNAH11 | c.4260G>A (p.Lys1420=) c.4275G>A (p.Lys1425=) n.286G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619105G>C | CA366952493 | DNAH11 | c.4260G>C (p.Lys1420Asn) c.4275G>C (p.Lys1425Asn) n.286G>C | |
7 | g.21619105G= | CA1693571500 | DNAH11 | c.4260G= (p.Lys1420=) c.4275G= (p.Lys1425=) n.286G= | |
7 | g.21619105G>T | CA366952494 | DNAH11 | c.4260G>T (p.Lys1420Asn) c.4275G>T (p.Lys1425Asn) n.286G>T | |
7 | g.21619106T>A | CA366952495 | DNAH11 | c.4261T>A (p.Phe1421Ile) c.4276T>A (p.Phe1426Ile) n.287T>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21619106T>C | CA366952496 | DNAH11 | c.4261T>C (p.Phe1421Leu) c.4276T>C (p.Phe1426Leu) n.287T>C | |
7 | g.21619106T>G | CA366952497 | DNAH11 | c.4261T>G (p.Phe1421Val) c.4276T>G (p.Phe1426Val) n.287T>G | gnomAD v4 |
7 | g.21619106T= | CA1693571503 | DNAH11 | c.4261T= (p.Phe1421=) c.4276T= (p.Phe1426=) n.287T= | |
7 | g.21619107T>A | CA366952498 | DNAH11 | c.4262T>A (p.Phe1421Tyr) c.4277T>A (p.Phe1426Tyr) n.288T>A | |
7 | g.21619107T>C | CA366952499 | DNAH11 | c.4262T>C (p.Phe1421Ser) c.4277T>C (p.Phe1426Ser) n.288T>C | |
7 | g.21619107T>G | CA366952500 | DNAH11 | c.4262T>G (p.Phe1421Cys) c.4277T>G (p.Phe1426Cys) n.288T>G | |
7 | g.21619108T>A | CA366952501 | DNAH11 | c.4263T>A (p.Phe1421Leu) c.4278T>A (p.Phe1426Leu) n.289T>A | |
7 | g.21619108T>C | CA453964465 | DNAH11 | c.4263T>C (p.Phe1421=) c.4278T>C (p.Phe1426=) n.289T>C | |
7 | g.21619108T>G | CA366952502 | DNAH11 | c.4263T>G (p.Phe1421Leu) c.4278T>G (p.Phe1426Leu) n.289T>G | |
7 | g.21619109T>A | CA366952503 | DNAH11 | c.4264T>A (p.Leu1422Ile) c.4279T>A (p.Leu1427Ile) n.290T>A | |
7 | g.21619109T>C | CA453964466 | DNAH11 | c.4264T>C (p.Leu1422=) c.4279T>C (p.Leu1427=) n.290T>C | |
7 | g.21619109T>G | CA366952504 | DNAH11 | c.4264T>G (p.Leu1422Val) c.4279T>G (p.Leu1427Val) n.290T>G | |
7 | g.21619110T>A | CA366952507 | DNAH11 | c.4265T>A (p.Leu1422Ter) c.4280T>A (p.Leu1427Ter) n.291T>A | |
7 | g.21619110T>C | CA366952506 | DNAH11 | c.4265T>C (p.Leu1422Ser) c.4280T>C (p.Leu1427Ser) n.291T>C | |
7 | g.21619110T>G | CA366952505 | DNAH11 | c.4265T>G (p.Leu1422Ter) c.4280T>G (p.Leu1427Ter) n.291T>G | |
7 | g.21619111A>C | CA366952508 | DNAH11 | c.4266A>C (p.Leu1422Phe) c.4281A>C (p.Leu1427Phe) n.292A>C | |
7 | g.21619111A>G | CA453964467 | DNAH11 | c.4266A>G (p.Leu1422=) c.4281A>G (p.Leu1427=) n.292A>G | |
7 | g.21619111A>T | CA366952509 | DNAH11 | c.4266A>T (p.Leu1422Phe) c.4281A>T (p.Leu1427Phe) n.292A>T | |
7 | g.21619112A>C | CA366952510 | DNAH11 | c.4267A>C (p.Ile1423Leu) c.4282A>C (p.Ile1428Leu) n.293A>C | |
7 | g.21619112A>G | CA366952511 | DNAH11 | c.4267A>G (p.Ile1423Val) c.4282A>G (p.Ile1428Val) n.293A>G | |
7 | g.21619112A>T | CA366952512 | DNAH11 | c.4267A>T (p.Ile1423Leu) c.4282A>T (p.Ile1428Leu) n.293A>T | |
7 | g.21619113T>A | CA366952513 | DNAH11 | c.4268T>A (p.Ile1423Lys) c.4283T>A (p.Ile1428Lys) n.294T>A | |
7 | g.21619113T>C | CA155108961 | DNAH11 | c.4268T>C (p.Ile1423Thr) c.4283T>C (p.Ile1428Thr) n.294T>C | dbSNP |
7 | g.21619113T>G | CA366952514 | DNAH11 | c.4268T>G (p.Ile1423Arg) c.4283T>G (p.Ile1428Arg) n.294T>G | |
7 | g.21619113T= | CA1693571506 | DNAH11 | c.4268T= (p.Ile1423=) c.4283T= (p.Ile1428=) n.294T= | |
7 | g.21619114A>C | CA453964468 | DNAH11 | c.4269A>C (p.Ile1423=) c.4284A>C (p.Ile1428=) n.295A>C | |
7 | g.21619114A>G | CA366952515 | DNAH11 | c.4269A>G (p.Ile1423Met) c.4284A>G (p.Ile1428Met) n.295A>G | |
7 | g.21619114A>T | CA453964469 | DNAH11 | c.4269A>T (p.Ile1423=) c.4284A>T (p.Ile1428=) n.295A>T | |
7 | g.21619115A= | CA1693571510 | DNAH11 | c.4270A= (p.Asn1424=) c.4285A= (p.Asn1429=) n.296A= | |
7 | g.21619115A>C | CA366952516 | DNAH11 | c.4270A>C (p.Asn1424His) c.4285A>C (p.Asn1429His) n.296A>C | dbSNP gnomAD v4 |
7 | g.21619115A>G | CA366952517 | DNAH11 | c.4270A>G (p.Asn1424Asp) c.4285A>G (p.Asn1429Asp) n.296A>G | |
7 | g.21619115A>T | CA366952518 | DNAH11 | c.4270A>T (p.Asn1424Tyr) c.4285A>T (p.Asn1429Tyr) n.296A>T | |
7 | g.21619116A>C | CA366952521 | DNAH11 | c.4271A>C (p.Asn1424Thr) c.4286A>C (p.Asn1429Thr) n.297A>C | |
7 | g.21619116A>G | CA366952520 | DNAH11 | c.4271A>G (p.Asn1424Ser) c.4286A>G (p.Asn1429Ser) n.297A>G | gnomAD v4 |
7 | g.21619116A>T | CA366952519 | DNAH11 | c.4271A>T (p.Asn1424Ile) c.4286A>T (p.Asn1429Ile) n.297A>T | |
7 | g.21619117T>A | CA366952522 | DNAH11 | c.4272T>A (p.Asn1424Lys) c.4287T>A (p.Asn1429Lys) n.298T>A | gnomAD v4 |
7 | g.21619117T>C | CA453964470 | DNAH11 | c.4272T>C (p.Asn1424=) c.4287T>C (p.Asn1429=) n.298T>C | |
7 | g.21619117T>G | CA366952523 | DNAH11 | c.4272T>G (p.Asn1424Lys) c.4287T>G (p.Asn1429Lys) n.298T>G | |
7 | g.21619118G>A | CA366952524 | DNAH11 | c.4273G>A (p.Glu1425Lys) c.4288G>A (p.Glu1430Lys) n.299G>A | ClinVar dbSNP gnomAD v2 |
7 | g.21619118G>C | CA366952525 | DNAH11 | c.4273G>C (p.Glu1425Gln) c.4288G>C (p.Glu1430Gln) n.299G>C | |
7 | g.21619118G= | CA1693571515 | DNAH11 | c.4273G= (p.Glu1425=) c.4288G= (p.Glu1430=) n.299G= | |
7 | g.21619118G>T | CA366952526 | DNAH11 | c.4273G>T (p.Glu1425Ter) c.4288G>T (p.Glu1430Ter) n.299G>T | ClinVar gnomAD v4 |
7 | g.21619119A>C | CA366952527 | DNAH11 | c.4274A>C (p.Glu1425Ala) c.4289A>C (p.Glu1430Ala) n.300A>C | |
7 | g.21619119A>G | CA366952528 | DNAH11 | c.4274A>G (p.Glu1425Gly) c.4289A>G (p.Glu1430Gly) n.300A>G | gnomAD v4 |
7 | g.21619119A>T | CA366952529 | DNAH11 | c.4274A>T (p.Glu1425Val) c.4289A>T (p.Glu1430Val) n.300A>T | dbSNP |
7 | g.21619120A>C | CA366952530 | DNAH11 | c.4275A>C (p.Glu1425Asp) c.4290A>C (p.Glu1430Asp) n.301A>C | |
7 | g.21619120A>G | CA453964471 | DNAH11 | c.4275A>G (p.Glu1425=) c.4290A>G (p.Glu1430=) n.301A>G | |
7 | g.21619120A>T | CA366952531 | DNAH11 | c.4275A>T (p.Glu1425Asp) c.4290A>T (p.Glu1430Asp) n.301A>T | |
7 | g.21619121G>A | CA366952532 | DNAH11 | c.4276G>A (p.Ala1426Thr) c.4291G>A (p.Ala1431Thr) n.302G>A | gnomAD v4 |
7 | g.21619121G>C | CA366952533 | DNAH11 | c.4276G>C (p.Ala1426Pro) c.4291G>C (p.Ala1431Pro) n.302G>C | |
7 | g.21619121G>T | CA366952534 | DNAH11 | c.4276G>T (p.Ala1426Ser) c.4291G>T (p.Ala1431Ser) n.302G>T | |
7 | g.21619122C>A | CA366952535 | DNAH11 | c.4277C>A (p.Ala1426Asp) c.4292C>A (p.Ala1431Asp) n.303C>A | |
7 | g.21619122C= | CA1693571518 | DNAH11 | c.4277C= (p.Ala1426=) c.4292C= (p.Ala1431=) n.303C= | |
7 | g.21619122C>G | CA366952536 | DNAH11 | c.4277C>G (p.Ala1426Gly) c.4292C>G (p.Ala1431Gly) n.303C>G | |
7 | g.21619122C>T | CA366952537 | DNAH11 | c.4277C>T (p.Ala1426Val) c.4292C>T (p.Ala1431Val) n.303C>T | dbSNP |
7 | g.21619123C>A | CA453964473 | DNAH11 | c.4278C>A (p.Ala1426=) c.4293C>A (p.Ala1431=) n.304C>A | |
7 | g.21619123C= | CA1693571524 | DNAH11 | c.4278C= (p.Ala1426=) c.4293C= (p.Ala1431=) n.304C= | |
7 | g.21619123C>G | CA4179982 | DNAH11 | c.4278C>G (p.Ala1426=) c.4293C>G (p.Ala1431=) n.304C>G | dbSNP ExAC gnomAD v2 |
7 | g.21619123C>T | CA453964472 | DNAH11 | c.4278C>T (p.Ala1426=) c.4293C>T (p.Ala1431=) n.304C>T | |
7 | g.21619124A>C | CA366952538 | DNAH11 | c.4279A>C (p.Thr1427Pro) c.4294A>C (p.Thr1432Pro) n.305A>C | |
7 | g.21619124A>G | CA366952539 | DNAH11 | c.4279A>G (p.Thr1427Ala) c.4294A>G (p.Thr1432Ala) n.305A>G | |
7 | g.21619124A>T | CA366952540 | DNAH11 | c.4279A>T (p.Thr1427Ser) c.4294A>T (p.Thr1432Ser) n.305A>T | |
7 | g.21619125C>A | CA366952541 | DNAH11 | c.4280C>A (p.Thr1427Lys) c.4295C>A (p.Thr1432Lys) n.306C>A | |
7 | g.21619125C= | CA1693571525 | DNAH11 | c.4280C= (p.Thr1427=) c.4295C= (p.Thr1432=) n.306C= | |
7 | g.21619125C>G | CA366952542 | DNAH11 | c.4280C>G (p.Thr1427Arg) c.4295C>G (p.Thr1432Arg) n.306C>G | |
7 | g.21619125C>T | CA4179983 | DNAH11 | c.4280C>T (p.Thr1427Ile) c.4295C>T (p.Thr1432Ile) n.306C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21619126A= | CA1693571528 | DNAH11 | c.4281A= (p.Thr1427=) c.4296A= (p.Thr1432=) n.307A= | |
7 | g.21619126A>C | CA453964475 | DNAH11 | c.4281A>C (p.Thr1427=) c.4296A>C (p.Thr1432=) n.307A>C | |
7 | g.21619126A>G | CA453964474 | DNAH11 | c.4281A>G (p.Thr1427=) c.4296A>G (p.Thr1432=) n.307A>G | |
7 | g.21619126A>T | CA4179984 | DNAH11 | c.4281A>T (p.Thr1427=) c.4296A>T (p.Thr1432=) n.307A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21619127A= | CA1693571532 | DNAH11 | c.4282A= (p.Thr1428=) c.4297A= (p.Thr1433=) n.308A= | |
7 | g.21619127A>C | CA366952543 | DNAH11 | c.4282A>C (p.Thr1428Pro) c.4297A>C (p.Thr1433Pro) n.308A>C | |
7 | g.21619127A>G | CA4179985 | DNAH11 | c.4282A>G (p.Thr1428Ala) c.4297A>G (p.Thr1433Ala) n.308A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619127A>T | CA4179986 | DNAH11 | c.4282A>T (p.Thr1428Ser) c.4297A>T (p.Thr1433Ser) n.308A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21619128C>A | CA366952544 | DNAH11 | c.4283C>A (p.Thr1428Asn) c.4298C>A (p.Thr1433Asn) n.309C>A | |
7 | g.21619128C>G | CA366952545 | DNAH11 | c.4283C>G (p.Thr1428Ser) c.4298C>G (p.Thr1433Ser) n.309C>G | |
7 | g.21619128C>T | CA366952546 | DNAH11 | c.4283C>T (p.Thr1428Ile) c.4298C>T (p.Thr1433Ile) n.309C>T | |
7 | g.21619129T>A | CA453964476 | DNAH11 | c.4284T>A (p.Thr1428=) c.4299T>A (p.Thr1433=) n.310T>A | |
7 | g.21619129T>C | CA453964478 | DNAH11 | c.4284T>C (p.Thr1428=) c.4299T>C (p.Thr1433=) n.310T>C | |
7 | g.21619129T>G | CA453964477 | DNAH11 | c.4284T>G (p.Thr1428=) c.4299T>G (p.Thr1433=) n.310T>G | |
7 | g.21619130T>A | CA366952547 | DNAH11 | c.4285T>A (p.Leu1429Met) c.4300T>A (p.Leu1434Met) n.311T>A | |
7 | g.21619130T>C | CA453964479 | DNAH11 | c.4285T>C (p.Leu1429=) c.4300T>C (p.Leu1434=) n.311T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21619130T>G | CA366952548 | DNAH11 | c.4285T>G (p.Leu1429Val) c.4300T>G (p.Leu1434Val) n.311T>G | dbSNP |
7 | g.21619130T= | CA1693571538 | DNAH11 | c.4285T= (p.Leu1429=) c.4300T= (p.Leu1434=) n.311T= | |
7 | g.21619131T>A | CA366952549 | DNAH11 | c.4286T>A (p.Leu1429Ter) c.4301T>A (p.Leu1434Ter) n.312T>A | |
7 | g.21619131T>C | CA366952550 | DNAH11 | c.4286T>C (p.Leu1429Ser) c.4301T>C (p.Leu1434Ser) n.312T>C | gnomAD v4 |
7 | g.21619131T>G | CA366952551 | DNAH11 | c.4286T>G (p.Leu1429Trp) c.4301T>G (p.Leu1434Trp) n.312T>G | |
7 | g.21619132G>A | CA453964480 | DNAH11 | c.4287G>A (p.Leu1429=) c.4302G>A (p.Leu1434=) n.313G>A | |
7 | g.21619132G>C | CA4179987 | DNAH11 | c.4287G>C (p.Leu1429Phe) c.4302G>C (p.Leu1434Phe) n.313G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619132G= | CA1693571541 | DNAH11 | c.4287G= (p.Leu1429=) c.4302G= (p.Leu1434=) n.313G= | |
7 | g.21619132G>T | CA366952552 | DNAH11 | c.4287G>T (p.Leu1429Phe) c.4302G>T (p.Leu1434Phe) n.313G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619133G>A | CA366952555 | DNAH11 | c.4288G>A (p.Ala1430Thr) c.4303G>A (p.Ala1435Thr) n.314G>A | |
7 | g.21619133G>C | CA366952554 | DNAH11 | c.4288G>C (p.Ala1430Pro) c.4303G>C (p.Ala1435Pro) n.314G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21619133G= | CA1693571545 | DNAH11 | c.4288G= (p.Ala1430=) c.4303G= (p.Ala1435=) n.314G= | |
7 | g.21619133G>T | CA366952553 | DNAH11 | c.4288G>T (p.Ala1430Ser) c.4303G>T (p.Ala1435Ser) n.314G>T | gnomAD v4 |
7 | g.21619134C>A | CA366952556 | DNAH11 | c.4289C>A (p.Ala1430Glu) c.4304C>A (p.Ala1435Glu) n.315C>A | |
7 | g.21619134C= | CA1693571550 | DNAH11 | c.4289C= (p.Ala1430=) c.4304C= (p.Ala1435=) n.315C= | |
7 | g.21619134C>G | CA155109013 | DNAH11 | c.4289C>G (p.Ala1430Gly) c.4304C>G (p.Ala1435Gly) n.315C>G | dbSNP gnomAD v4 |
7 | g.21619134C>T | CA4179988 | DNAH11 | c.4289C>T (p.Ala1430Val) c.4304C>T (p.Ala1435Val) n.315C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21619134_21619135delinsCA | CA1693571552 | DNAH11 | c.4289_4290delinsCA (p.Ala1430=) c.4304_4305delinsCA (p.Ala1435=) n.315_316delinsCA | |
7 | g.21619135del | CA836625162 | DNAH11 | c.4290del (p.Asp1431IlefsTer3) c.4305del (p.Asp1436IlefsTer3) n.316del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21619135A>C | CA453964481 | DNAH11 | c.4290A>C (p.Ala1430=) c.4305A>C (p.Ala1435=) n.316A>C | |
7 | g.21619135A>G | CA453964482 | DNAH11 | c.4290A>G (p.Ala1430=) c.4305A>G (p.Ala1435=) n.316A>G | |
7 | g.21619135A>T | CA453964483 | DNAH11 | c.4290A>T (p.Ala1430=) c.4305A>T (p.Ala1435=) n.316A>T | |
7 | g.21619136G>A | CA366952557 | DNAH11 | c.4291G>A (p.Asp1431Asn) c.4306G>A (p.Asp1436Asn) n.317G>A | |
7 | g.21619136G>C | CA4179989 | DNAH11 | c.4291G>C (p.Asp1431His) c.4306G>C (p.Asp1436His) n.317G>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.21619136G= | CA1693571560 | DNAH11 | c.4291G= (p.Asp1431=) c.4306G= (p.Asp1436=) n.317G= | |
7 | g.21619136G>T | CA366952558 | DNAH11 | c.4291G>T (p.Asp1431Tyr) c.4306G>T (p.Asp1436Tyr) n.317G>T | dbSNP gnomAD v4 |
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 | ClinVar 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 | 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 |