Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21635991C>A | CA454139620 | DNAH11 | c.4621C>A (p.Arg1541=) c.4636C>A (p.Arg1546=) n.647C>A | ClinVar dbSNP gnomAD v4 |
7 | g.21635991C= | CA1693586341 | DNAH11 | c.4621C= (p.Arg1541=) c.4636C= (p.Arg1546=) n.647C= | |
7 | g.21635991C>G | CA366933386 | DNAH11 | c.4621C>G (p.Arg1541Gly) c.4636C>G (p.Arg1546Gly) n.647C>G | |
7 | g.21635991C>T | CA4180111 | DNAH11 | c.4621C>T (p.Arg1541Ter) c.4636C>T (p.Arg1546Ter) n.647C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21635992G>A | CA4180112 | DNAH11 | c.4622G>A (p.Arg1541Gln) c.4637G>A (p.Arg1546Gln) n.648G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21635992G>C | CA366933388 | DNAH11 | c.4622G>C (p.Arg1541Pro) c.4637G>C (p.Arg1546Pro) n.648G>C | |
7 | g.21635992G= | CA1693586342 | DNAH11 | c.4622G= (p.Arg1541=) c.4637G= (p.Arg1546=) n.648G= | |
7 | g.21635992G>T | CA366933387 | DNAH11 | c.4622G>T (p.Arg1541Leu) c.4637G>T (p.Arg1546Leu) n.648G>T | gnomAD v4 |
7 | g.21635993A>C | CA454139624 | DNAH11 | c.4623A>C (p.Arg1541=) c.4638A>C (p.Arg1546=) n.649A>C | |
7 | g.21635993A>G | CA454139625 | DNAH11 | c.4623A>G (p.Arg1541=) c.4638A>G (p.Arg1546=) n.649A>G | gnomAD v4 |
7 | g.21635993A>T | CA454139627 | DNAH11 | c.4623A>T (p.Arg1541=) c.4638A>T (p.Arg1546=) n.649A>T | |
7 | g.21635994A= | CA1693586343 | DNAH11 | c.4624A= (p.Thr1542=) c.4639A= (p.Thr1547=) n.650A= | |
7 | g.21635994A>C | CA366933389 | DNAH11 | c.4624A>C (p.Thr1542Pro) c.4639A>C (p.Thr1547Pro) n.650A>C | |
7 | g.21635994A>G | CA4180113 | DNAH11 | c.4624A>G (p.Thr1542Ala) c.4639A>G (p.Thr1547Ala) n.650A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21635994A>T | CA366933390 | DNAH11 | c.4624A>T (p.Thr1542Ser) c.4639A>T (p.Thr1547Ser) n.650A>T | |
7 | g.21635995C>A | CA366933391 | DNAH11 | c.4625C>A (p.Thr1542Asn) c.4640C>A (p.Thr1547Asn) n.651C>A | |
7 | g.21635995C= | CA1693586344 | DNAH11 | c.4625C= (p.Thr1542=) c.4640C= (p.Thr1547=) n.651C= | |
7 | g.21635995C>G | CA155066280 | DNAH11 | c.4625C>G (p.Thr1542Ser) c.4640C>G (p.Thr1547Ser) n.651C>G | dbSNP |
7 | g.21635995C>T | CA366933392 | DNAH11 | c.4625C>T (p.Thr1542Ile) c.4640C>T (p.Thr1547Ile) n.651C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21635996T>A | CA454139629 | DNAH11 | c.4626T>A (p.Thr1542=) c.4641T>A (p.Thr1547=) n.652T>A | |
7 | g.21635996T>C | CA454139632 | DNAH11 | c.4626T>C (p.Thr1542=) c.4641T>C (p.Thr1547=) n.652T>C | COSMIC COSMIC |
7 | g.21635996T>G | CA454139631 | DNAH11 | c.4626T>G (p.Thr1542=) c.4641T>G (p.Thr1547=) n.652T>G | |
7 | g.21635997T>A | CA366933393 | DNAH11 | c.4627T>A (p.Trp1543Arg) c.4642T>A (p.Trp1548Arg) n.653T>A | |
7 | g.21635997T>C | CA366933395 | DNAH11 | c.4627T>C (p.Trp1543Arg) c.4642T>C (p.Trp1548Arg) n.653T>C | |
7 | g.21635997T>G | CA366933394 | DNAH11 | c.4627T>G (p.Trp1543Gly) c.4642T>G (p.Trp1548Gly) n.653T>G | |
7 | g.21635998G>A | CA366933396 | DNAH11 | c.4628G>A (p.Trp1543Ter) c.4643G>A (p.Trp1548Ter) n.654G>A | gnomAD v4 |
7 | g.21635998G>C | CA4180114 | DNAH11 | c.4628G>C (p.Trp1543Ser) c.4643G>C (p.Trp1548Ser) n.654G>C | dbSNP ExAC gnomAD v2 |
7 | g.21635998G= | CA1693586345 | DNAH11 | c.4628G= (p.Trp1543=) c.4643G= (p.Trp1548=) n.654G= | |
7 | g.21635998G>T | CA366933397 | DNAH11 | c.4628G>T (p.Trp1543Leu) c.4643G>T (p.Trp1548Leu) n.654G>T | |
7 | g.21635999G>A | CA366933398 | DNAH11 | c.4629G>A (p.Trp1543Ter) c.4644G>A (p.Trp1548Ter) n.655G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21635999G>C | CA366933399 | DNAH11 | c.4629G>C (p.Trp1543Cys) c.4644G>C (p.Trp1548Cys) n.655G>C | |
7 | g.21635999G= | CA1693586346 | DNAH11 | c.4629G= (p.Trp1543=) c.4644G= (p.Trp1548=) n.655G= | |
7 | g.21635999G>T | CA366933400 | DNAH11 | c.4629G>T (p.Trp1543Cys) c.4644G>T (p.Trp1548Cys) n.655G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21636000T>A | CA366933401 | DNAH11 | c.4630T>A (p.Ser1544Thr) c.4645T>A (p.Ser1549Thr) n.656T>A | |
7 | g.21636000T>C | CA366933402 | DNAH11 | c.4630T>C (p.Ser1544Pro) c.4645T>C (p.Ser1549Pro) n.656T>C | gnomAD v4 |
7 | g.21636000T>G | CA366933403 | DNAH11 | c.4630T>G (p.Ser1544Ala) c.4645T>G (p.Ser1549Ala) n.656T>G | |
7 | g.21636001C>A | CA366933404 | DNAH11 | c.4631C>A (p.Ser1544Tyr) c.4646C>A (p.Ser1549Tyr) n.657C>A | |
7 | g.21636001C= | CA1693586347 | DNAH11 | c.4631C= (p.Ser1544=) c.4646C= (p.Ser1549=) n.657C= | |
7 | g.21636001C>G | CA366933405 | DNAH11 | c.4631C>G (p.Ser1544Cys) c.4646C>G (p.Ser1549Cys) n.657C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21636001C>T | CA366933406 | DNAH11 | c.4631C>T (p.Ser1544Phe) c.4646C>T (p.Ser1549Phe) n.657C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21636002T>A | CA454139636 | DNAH11 | c.4632T>A (p.Ser1544=) c.4647T>A (p.Ser1549=) n.658T>A | |
7 | g.21636002T>C | CA454139637 | DNAH11 | c.4632T>C (p.Ser1544=) c.4647T>C (p.Ser1549=) n.658T>C | |
7 | g.21636002T>G | CA454139638 | DNAH11 | c.4632T>G (p.Ser1544=) c.4647T>G (p.Ser1549=) n.658T>G | |
7 | g.21636003C>A | CA366933408 | DNAH11 | c.4633C>A (p.His1545Asn) c.4648C>A (p.His1550Asn) n.659C>A | |
7 | g.21636003C>G | CA366933409 | DNAH11 | c.4633C>G (p.His1545Asp) c.4648C>G (p.His1550Asp) n.659C>G | |
7 | g.21636003C>T | CA366933407 | DNAH11 | c.4633C>T (p.His1545Tyr) c.4648C>T (p.His1550Tyr) n.659C>T | |
7 | g.21636004A>C | CA366933410 | DNAH11 | c.4634A>C (p.His1545Pro) c.4649A>C (p.His1550Pro) n.660A>C | gnomAD v4 |
7 | g.21636004A>G | CA366933411 | DNAH11 | c.4634A>G (p.His1545Arg) c.4649A>G (p.His1550Arg) n.660A>G | |
7 | g.21636004A>T | CA366933412 | DNAH11 | c.4634A>T (p.His1545Leu) c.4649A>T (p.His1550Leu) n.660A>T | |
7 | g.21636005C>A | CA366933413 | DNAH11 | c.4635C>A (p.His1545Gln) c.4650C>A (p.His1550Gln) n.661C>A | |
7 | g.21636005C= | CA1693586348 | DNAH11 | c.4635C= (p.His1545=) c.4650C= (p.His1550=) n.661C= | |
7 | g.21636005C>G | CA4180115 | DNAH11 | c.4635C>G (p.His1545Gln) c.4650C>G (p.His1550Gln) n.661C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21636005C>T | CA454139639 | DNAH11 | c.4635C>T (p.His1545=) c.4650C>T (p.His1550=) n.661C>T | dbSNP gnomAD v4 |
7 | g.21636006C>A | CA366933415 | DNAH11 | c.4636C>A (p.Leu1546Met) c.4651C>A (p.Leu1551Met) n.662C>A | |
7 | g.21636006C= | CA1693586349 | DNAH11 | c.4636C= (p.Leu1546=) c.4651C= (p.Leu1551=) n.662C= | |
7 | g.21636006C>G | CA366933414 | DNAH11 | c.4636C>G (p.Leu1546Val) c.4651C>G (p.Leu1551Val) n.662C>G | |
7 | g.21636006C>T | CA454139641 | DNAH11 | c.4636C>T (p.Leu1546=) c.4651C>T (p.Leu1551=) n.662C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21636007T>A | CA366933416 | DNAH11 | c.4637T>A (p.Leu1546Gln) c.4652T>A (p.Leu1551Gln) n.663T>A | |
7 | g.21636007T>C | CA366933417 | DNAH11 | c.4637T>C (p.Leu1546Pro) c.4652T>C (p.Leu1551Pro) n.663T>C | |
7 | g.21636007T>G | CA366933418 | DNAH11 | c.4637T>G (p.Leu1546Arg) c.4652T>G (p.Leu1551Arg) n.663T>G | |
7 | g.21636008G>A | CA454139642 | DNAH11 | c.4638G>A (p.Leu1546=) c.4653G>A (p.Leu1551=) n.664G>A | |
7 | g.21636008G>C | CA454139643 | DNAH11 | c.4638G>C (p.Leu1546=) c.4653G>C (p.Leu1551=) n.664G>C | |
7 | g.21636008G>T | CA454139644 | DNAH11 | c.4638G>T (p.Leu1546=) c.4653G>T (p.Leu1551=) n.664G>T | |
7 | g.21636009G>A | CA366933419 | DNAH11 | c.4639G>A (p.Glu1547Lys) c.4654G>A (p.Glu1552Lys) n.665G>A | |
7 | g.21636009G>C | CA366933420 | DNAH11 | c.4639G>C (p.Glu1547Gln) c.4654G>C (p.Glu1552Gln) n.665G>C | |
7 | g.21636009G>T | CA366933421 | DNAH11 | c.4639G>T (p.Glu1547Ter) c.4654G>T (p.Glu1552Ter) n.665G>T | |
7 | g.21636010A>C | CA366933424 | DNAH11 | c.4640A>C (p.Glu1547Ala) c.4655A>C (p.Glu1552Ala) n.666A>C | |
7 | g.21636010A>G | CA366933423 | DNAH11 | c.4640A>G (p.Glu1547Gly) c.4655A>G (p.Glu1552Gly) n.666A>G | COSMIC COSMIC |
7 | g.21636010A>T | CA366933422 | DNAH11 | c.4640A>T (p.Glu1547Val) c.4655A>T (p.Glu1552Val) n.666A>T | |
7 | g.21636011A>C | CA366933425 | DNAH11 | c.4641A>C (p.Glu1547Asp) c.4656A>C (p.Glu1552Asp) n.667A>C | |
7 | g.21636011A>G | CA454139647 | DNAH11 | c.4641A>G (p.Glu1547=) c.4656A>G (p.Glu1552=) n.667A>G | |
7 | g.21636011A>T | CA366933426 | DNAH11 | c.4641A>T (p.Glu1547Asp) c.4656A>T (p.Glu1552Asp) n.667A>T | |
7 | g.21636012A= | CA1693586350 | DNAH11 | c.4642A= (p.Ser1548=) c.4657A= (p.Ser1553=) n.668A= | |
7 | g.21636012A>C | CA366933427 | DNAH11 | c.4642A>C (p.Ser1548Arg) c.4657A>C (p.Ser1553Arg) n.668A>C | |
7 | g.21636012A>G | CA366933429 | DNAH11 | c.4642A>G (p.Ser1548Gly) c.4657A>G (p.Ser1553Gly) n.668A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21636012A>T | CA366933428 | DNAH11 | c.4642A>T (p.Ser1548Cys) c.4657A>T (p.Ser1553Cys) n.668A>T | |
7 | g.21636013G>A | CA366933430 | DNAH11 | c.4643G>A (p.Ser1548Asn) c.4658G>A (p.Ser1553Asn) n.669G>A | gnomAD v4 |
7 | g.21636013G>C | CA366933431 | DNAH11 | c.4643G>C (p.Ser1548Thr) c.4658G>C (p.Ser1553Thr) n.669G>C | |
7 | g.21636013G= | CA1693586351 | DNAH11 | c.4643G= (p.Ser1548=) c.4658G= (p.Ser1553=) n.669G= | |
7 | g.21636013G>T | CA155066303 | DNAH11 | c.4643G>T (p.Ser1548Ile) c.4658G>T (p.Ser1553Ile) n.669G>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.21636014C>A | CA366933432 | DNAH11 | c.4644C>A (p.Ser1548Arg) c.4659C>A (p.Ser1553Arg) n.670C>A | |
7 | g.21636014C= | CA1693586352 | DNAH11 | c.4644C= (p.Ser1548=) c.4659C= (p.Ser1553=) n.670C= | |
7 | g.21636014C>G | CA366933433 | DNAH11 | c.4644C>G (p.Ser1548Arg) c.4659C>G (p.Ser1553Arg) n.670C>G | |
7 | g.21636014C>T | CA155066309 | DNAH11 | c.4644C>T (p.Ser1548=) c.4659C>T (p.Ser1553=) n.670C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21636015A= | CA1693586353 | DNAH11 | c.4645A= (p.Ile1549=) c.4660A= (p.Ile1554=) n.671A= | |
7 | g.21636015A>C | CA366933434 | DNAH11 | c.4645A>C (p.Ile1549Leu) c.4660A>C (p.Ile1554Leu) n.671A>C | |
7 | g.21636015A>G | CA366933435 | DNAH11 | c.4645A>G (p.Ile1549Val) c.4660A>G (p.Ile1554Val) n.671A>G | ClinVar dbSNP gnomAD v4 |
7 | g.21636015A>T | CA366933436 | DNAH11 | c.4645A>T (p.Ile1549Phe) c.4660A>T (p.Ile1554Phe) n.671A>T | |
7 | g.21636016T>A | CA366933437 | DNAH11 | c.4646T>A (p.Ile1549Asn) c.4661T>A (p.Ile1554Asn) n.672T>A | gnomAD v4 |
7 | g.21636016T>C | CA366933438 | DNAH11 | c.4646T>C (p.Ile1549Thr) c.4661T>C (p.Ile1554Thr) n.672T>C | |
7 | g.21636016T>G | CA366933439 | DNAH11 | c.4646T>G (p.Ile1549Ser) c.4661T>G (p.Ile1554Ser) n.672T>G | |
7 | g.21636020del | CA2562379241 | DNAH11 | c.4650del (p.Phe1550LeufsTer12) c.4665del (p.Phe1555LeufsTer12) n.676del | |
7 | g.21636017T>A | CA454139648 | DNAH11 | c.4647T>A (p.Ile1549=) c.4662T>A (p.Ile1554=) n.673T>A | |
7 | g.21636017T>C | CA454139649 | DNAH11 | c.4647T>C (p.Ile1549=) c.4662T>C (p.Ile1554=) n.673T>C | |
7 | g.21636017T>G | CA366933440 | DNAH11 | c.4647T>G (p.Ile1549Met) c.4662T>G (p.Ile1554Met) n.673T>G | |
7 | g.21636018T>A | CA366933441 | DNAH11 | c.4648T>A (p.Phe1550Ile) c.4663T>A (p.Phe1555Ile) n.674T>A | |
7 | g.21636018T>C | CA155066313 | DNAH11 | c.4648T>C (p.Phe1550Leu) c.4663T>C (p.Phe1555Leu) n.674T>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21636018T>G | CA366933442 | DNAH11 | c.4648T>G (p.Phe1550Val) c.4663T>G (p.Phe1555Val) n.674T>G | |
7 | g.21636018T= | CA1693586354 | DNAH11 | c.4648T= (p.Phe1550=) c.4663T= (p.Phe1555=) n.674T= | |
7 | g.21636019T>A | CA366933443 | DNAH11 | c.4649T>A (p.Phe1550Tyr) c.4664T>A (p.Phe1555Tyr) n.675T>A | |
7 | g.21636019T>C | CA366933444 | DNAH11 | c.4649T>C (p.Phe1550Ser) c.4664T>C (p.Phe1555Ser) n.675T>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.21636019T>G | CA366933445 | DNAH11 | c.4649T>G (p.Phe1550Cys) c.4664T>G (p.Phe1555Cys) n.675T>G | |
7 | g.21636019T= | CA1693586355 | DNAH11 | c.4649T= (p.Phe1550=) c.4664T= (p.Phe1555=) n.675T= | |
7 | g.21636020T>A | CA366933446 | DNAH11 | c.4650T>A (p.Phe1550Leu) c.4665T>A (p.Phe1555Leu) n.676T>A | |
7 | g.21636020T>C | CA454139652 | DNAH11 | c.4650T>C (p.Phe1550=) c.4665T>C (p.Phe1555=) n.676T>C | |
7 | g.21636020T>G | CA366933447 | DNAH11 | c.4650T>G (p.Phe1550Leu) c.4665T>G (p.Phe1555Leu) n.676T>G | |
7 | g.21636021G>A | CA366933449 | DNAH11 | c.4651G>A (p.Val1551Ile) c.4666G>A (p.Val1556Ile) n.677G>A | gnomAD v4 |
7 | g.21636021G>C | CA366933451 | DNAH11 | c.4651G>C (p.Val1551Leu) c.4666G>C (p.Val1556Leu) n.677G>C | gnomAD v4 |
7 | g.21636021G>T | CA366933453 | DNAH11 | c.4651G>T (p.Val1551Phe) c.4666G>T (p.Val1556Phe) n.677G>T | |
7 | g.21636022T>A | CA366933456 | DNAH11 | c.4652T>A (p.Val1551Asp) c.4667T>A (p.Val1556Asp) n.678T>A | |
7 | g.21636022T>C | CA366933457 | DNAH11 | c.4652T>C (p.Val1551Ala) c.4667T>C (p.Val1556Ala) n.678T>C | |
7 | g.21636022T>G | CA366933460 | DNAH11 | c.4652T>G (p.Val1551Gly) c.4667T>G (p.Val1556Gly) n.678T>G | |
7 | g.21636023C>A | CA454139654 | DNAH11 | c.4653C>A (p.Val1551=) c.4668C>A (p.Val1556=) n.679C>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21636023C= | CA1693586356 | DNAH11 | c.4653C= (p.Val1551=) c.4668C= (p.Val1556=) n.679C= | |
7 | g.21636023C>G | CA454139655 | DNAH11 | c.4653C>G (p.Val1551=) c.4668C>G (p.Val1556=) n.679C>G | |
7 | g.21636023C>T | CA4180116 | DNAH11 | c.4653C>T (p.Val1551=) c.4668C>T (p.Val1556=) n.679C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21636024T>A | CA366933464 | DNAH11 | c.4654T>A (p.Cys1552Ser) c.4669T>A (p.Cys1557Ser) n.680T>A | |
7 | g.21636024T>C | CA366933465 | DNAH11 | c.4654T>C (p.Cys1552Arg) c.4669T>C (p.Cys1557Arg) n.680T>C | |
7 | g.21636024T>G | CA366933467 | DNAH11 | c.4654T>G (p.Cys1552Gly) c.4669T>G (p.Cys1557Gly) n.680T>G | |
7 | g.21636025G>A | CA366933475 | DNAH11 | c.4655G>A (p.Cys1552Tyr) c.4670G>A (p.Cys1557Tyr) n.681G>A | gnomAD v4 |
7 | g.21636025G>C | CA366933472 | DNAH11 | c.4655G>C (p.Cys1552Ser) c.4670G>C (p.Cys1557Ser) n.681G>C | |
7 | g.21636025G>T | CA366933470 | DNAH11 | c.4655G>T (p.Cys1552Phe) c.4670G>T (p.Cys1557Phe) n.681G>T | gnomAD v4 |
7 | g.21636026T>A | CA366933477 | DNAH11 | c.4656T>A (p.Cys1552Ter) c.4671T>A (p.Cys1557Ter) n.682T>A | |
7 | g.21636026T>C | CA454139657 | DNAH11 | c.4656T>C (p.Cys1552=) c.4671T>C (p.Cys1557=) n.682T>C | |
7 | g.21636026T>G | CA366933479 | DNAH11 | c.4656T>G (p.Cys1552Trp) c.4671T>G (p.Cys1557Trp) n.682T>G | |
7 | g.21636027T>A | CA366933481 | DNAH11 | c.4657T>A (p.Ser1553Thr) c.4672T>A (p.Ser1558Thr) n.683T>A | |
7 | g.21636027T>C | CA366933482 | DNAH11 | c.4657T>C (p.Ser1553Pro) c.4672T>C (p.Ser1558Pro) n.683T>C | |
7 | g.21636027T>G | CA366933484 | DNAH11 | c.4657T>G (p.Ser1553Ala) c.4672T>G (p.Ser1558Ala) n.683T>G | |
7 | g.21636028C>A | CA366933486 | DNAH11 | c.4658C>A (p.Ser1553Ter) c.4673C>A (p.Ser1558Ter) n.684C>A | |
7 | g.21636028C= | CA1693586357 | DNAH11 | c.4658C= (p.Ser1553=) c.4673C= (p.Ser1558=) n.684C= | |
7 | g.21636028C>G | CA366933489 | DNAH11 | c.4658C>G (p.Ser1553Ter) c.4673C>G (p.Ser1558Ter) n.684C>G | ClinVar dbSNP gnomAD v4 |
7 | g.21636028C>T | CA366933491 | DNAH11 | c.4658C>T (p.Ser1553Leu) c.4673C>T (p.Ser1558Leu) n.684C>T | gnomAD v4 |
7 | g.21636029A= | CA1693586358 | DNAH11 | c.4659A= (p.Ser1553=) c.4674A= (p.Ser1558=) n.685A= | |
7 | g.21636029A>C | CA454139658 | DNAH11 | c.4659A>C (p.Ser1553=) c.4674A>C (p.Ser1558=) n.685A>C | |
7 | g.21636029A>G | CA4180117 | DNAH11 | c.4659A>G (p.Ser1553=) c.4674A>G (p.Ser1558=) n.685A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21636029A>T | CA454139660 | DNAH11 | c.4659A>T (p.Ser1553=) c.4674A>T (p.Ser1558=) n.685A>T | |
7 | g.21636030G>A | CA366933496 | DNAH11 | c.4660G>A (p.Glu1554Lys) c.4675G>A (p.Glu1559Lys) n.686G>A | |
7 | g.21636030G>C | CA366933497 | DNAH11 | c.4660G>C (p.Glu1554Gln) c.4675G>C (p.Glu1559Gln) n.686G>C | |
7 | g.21636030G>T | CA366933499 | DNAH11 | c.4660G>T (p.Glu1554Ter) c.4675G>T (p.Glu1559Ter) n.686G>T | |
7 | g.21636031A= | CA1693586359 | DNAH11 | c.4661A= (p.Glu1554=) c.4676A= (p.Glu1559=) n.687A= | |
7 | g.21636031A>C | CA366933506 | DNAH11 | c.4661A>C (p.Glu1554Ala) c.4676A>C (p.Glu1559Ala) n.687A>C | |
7 | g.21636031A>G | CA366933502 | DNAH11 | c.4661A>G (p.Glu1554Gly) c.4676A>G (p.Glu1559Gly) n.687A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21636031A>T | CA366933503 | DNAH11 | c.4661A>T (p.Glu1554Val) c.4676A>T (p.Glu1559Val) n.687A>T | |
7 | g.21636032A= | CA1693586360 | DNAH11 | c.4662A= (p.Glu1554=) c.4677A= (p.Glu1559=) n.688A= | |
7 | g.21636032A>C | CA366933508 | DNAH11 | c.4662A>C (p.Glu1554Asp) c.4677A>C (p.Glu1559Asp) n.688A>C | |
7 | g.21636032A>G | CA4180118 | DNAH11 | c.4662A>G (p.Glu1554=) c.4677A>G (p.Glu1559=) n.688A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21636032A>T | CA366933511 | DNAH11 | c.4662A>T (p.Glu1554Asp) c.4677A>T (p.Glu1559Asp) n.688A>T | |
7 | g.21636032_21636035delinsAGAT | CA1693586361 | DNAH11 | c.4662_4665delinsAGAT (p.Glu1554=) c.4677_4680delinsAGAT (p.Glu1559=) n.688_691delinsAGAT | |
7 | g.21636033G>A | CA366933514 | DNAH11 | c.4663G>A (p.Asp1555Asn) c.4678G>A (p.Asp1560Asn) n.689G>A | dbSNP |
7 | g.21636033G>C | CA155066343 | DNAH11 | c.4663G>C (p.Asp1555His) c.4678G>C (p.Asp1560His) n.689G>C | dbSNP |
7 | g.21636033G= | CA1693586362 | DNAH11 | c.4663G= (p.Asp1555=) c.4678G= (p.Asp1560=) n.689G= | |
7 | g.21636033G>T | CA366933517 | DNAH11 | c.4663G>T (p.Asp1555Tyr) c.4678G>T (p.Asp1560Tyr) n.689G>T | |
7 | g.21636033_21636035del | CA1099209011 | DNAH11 | c.4663_4665del (p.Asp1555del) c.4678_4680del (p.Asp1560del) n.689_691del | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21636034A= | CA1693586363 | DNAH11 | c.4664A= (p.Asp1555=) c.4679A= (p.Asp1560=) n.690A= | |
7 | g.21636034A>C | CA366933520 | DNAH11 | c.4664A>C (p.Asp1555Ala) c.4679A>C (p.Asp1560Ala) n.690A>C | |
7 | g.21636034A>G | CA4180119 | DNAH11 | c.4664A>G (p.Asp1555Gly) c.4679A>G (p.Asp1560Gly) n.690A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21636034A>T | CA366933522 | DNAH11 | c.4664A>T (p.Asp1555Val) c.4679A>T (p.Asp1560Val) n.690A>T | gnomAD v4 |
7 | g.21636035T>A | CA366933524 | DNAH11 | c.4665T>A (p.Asp1555Glu) c.4680T>A (p.Asp1560Glu) n.691T>A | |
7 | g.21636035T>C | CA454139666 | DNAH11 | c.4665T>C (p.Asp1555=) c.4680T>C (p.Asp1560=) n.691T>C | |
7 | g.21636035T>G | CA366933526 | DNAH11 | c.4665T>G (p.Asp1555Glu) c.4680T>G (p.Asp1560Glu) n.691T>G | |
7 | g.21636036A>C | CA366933533 | DNAH11 | c.4666A>C (p.Ile1556Leu) c.4681A>C (p.Ile1561Leu) n.692A>C | |
7 | g.21636036A>G | CA366933532 | DNAH11 | c.4666A>G (p.Ile1556Val) c.4681A>G (p.Ile1561Val) n.692A>G | |
7 | g.21636036A>T | CA366933530 | DNAH11 | c.4666A>T (p.Ile1556Phe) c.4681A>T (p.Ile1561Phe) n.692A>T | |
7 | g.21636037T>A | CA366933536 | DNAH11 | c.4667T>A (p.Ile1556Asn) c.4682T>A (p.Ile1561Asn) n.693T>A | |
7 | g.21636037T>C | CA4180120 | DNAH11 | c.4667T>C (p.Ile1556Thr) c.4682T>C (p.Ile1561Thr) n.693T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21636037T>G | CA366933538 | DNAH11 | c.4667T>G (p.Ile1556Ser) c.4682T>G (p.Ile1561Ser) n.693T>G | |
7 | g.21636037T= | CA1693586364 | DNAH11 | c.4667T= (p.Ile1556=) c.4682T= (p.Ile1561=) n.693T= | |
7 | g.21636038T>A | CA454139667 | DNAH11 | c.4668T>A (p.Ile1556=) c.4683T>A (p.Ile1561=) n.694T>A | |
7 | g.21636038T>C | CA454139669 | DNAH11 | c.4668T>C (p.Ile1556=) c.4683T>C (p.Ile1561=) n.694T>C | |
7 | g.21636038T>G | CA4180121 | DNAH11 | c.4668T>G (p.Ile1556Met) c.4683T>G (p.Ile1561Met) n.694T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21636038T= | CA1693586365 | DNAH11 | c.4668T= (p.Ile1556=) c.4683T= (p.Ile1561=) n.694T= | |
7 | g.21636039C>A | CA454139671 | DNAH11 | c.4669C>A (p.Arg1557=) c.4684C>A (p.Arg1562=) n.695C>A | |
7 | g.21636039C= | CA1693586366 | DNAH11 | c.4669C= (p.Arg1557=) c.4684C= (p.Arg1562=) n.695C= | |
7 | g.21636039C>G | CA366933544 | DNAH11 | c.4669C>G (p.Arg1557Gly) c.4684C>G (p.Arg1562Gly) n.695C>G | gnomAD v4 |
7 | g.21636039C>T | CA4180122 | DNAH11 | c.4669C>T (p.Arg1557Ter) c.4684C>T (p.Arg1562Ter) n.695C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.21636040G>A | CA366933549 | DNAH11 | c.4670G>A (p.Arg1557Gln) c.4685G>A (p.Arg1562Gln) n.696G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21636040G>C | CA366933551 | DNAH11 | c.4670G>C (p.Arg1557Pro) c.4685G>C (p.Arg1562Pro) n.696G>C | gnomAD v4 |
7 | g.21636040G= | CA1693586367 | DNAH11 | c.4670G= (p.Arg1557=) c.4685G= (p.Arg1562=) n.696G= | |
7 | g.21636040G>T | CA366933553 | DNAH11 | c.4670G>T (p.Arg1557Leu) c.4685G>T (p.Arg1562Leu) n.696G>T | dbSNP gnomAD v2 |
7 | g.21636041A>C | CA454139675 | DNAH11 | c.4671A>C (p.Arg1557=) c.4686A>C (p.Arg1562=) n.697A>C | |
7 | g.21636041A>G | CA454139674 | DNAH11 | c.4671A>G (p.Arg1557=) c.4686A>G (p.Arg1562=) n.697A>G | ClinVar |
7 | g.21636041A>T | CA454139673 | DNAH11 | c.4671A>T (p.Arg1557=) c.4686A>T (p.Arg1562=) n.697A>T | |
7 | g.21636043_21636131del | CA2681981817 | DNAH11 | c.4673_4725+36del c.4688_4740+36del | ClinVar gnomAD v4 |
7 | g.21636042A= | CA1693586368 | DNAH11 | c.4672A= (p.Ile1558=) c.4687A= (p.Ile1563=) n.698A= | |
7 | g.21636042A>C | CA366933556 | DNAH11 | c.4672A>C (p.Ile1558Leu) c.4687A>C (p.Ile1563Leu) n.698A>C | |
7 | g.21636042A>G | CA366933558 | DNAH11 | c.4672A>G (p.Ile1558Val) c.4687A>G (p.Ile1563Val) n.698A>G | |
7 | g.21636042A>T | CA366933561 | DNAH11 | c.4672A>T (p.Ile1558Phe) c.4687A>T (p.Ile1563Phe) n.698A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21636043T>A | CA366933563 | DNAH11 | c.4673T>A (p.Ile1558Asn) c.4688T>A (p.Ile1563Asn) n.699T>A | |
7 | g.21636043T>C | CA366933565 | DNAH11 | c.4673T>C (p.Ile1558Thr) c.4688T>C (p.Ile1563Thr) n.699T>C | |
7 | g.21636043T>G | CA366933567 | DNAH11 | c.4673T>G (p.Ile1558Ser) c.4688T>G (p.Ile1563Ser) n.699T>G | |
7 | g.21636044C>A | CA454139677 | DNAH11 | c.4674C>A (p.Ile1558=) c.4689C>A (p.Ile1563=) n.700C>A | gnomAD v4 |
7 | g.21636044C= | CA1693586369 | DNAH11 | c.4674C= (p.Ile1558=) c.4689C= (p.Ile1563=) n.700C= | |
7 | g.21636044C>G | CA366933570 | DNAH11 | c.4674C>G (p.Ile1558Met) c.4689C>G (p.Ile1563Met) n.700C>G | dbSNP gnomAD v4 |
7 | g.21636044C>T | CA454139679 | DNAH11 | c.4674C>T (p.Ile1558=) c.4689C>T (p.Ile1563=) n.700C>T | dbSNP gnomAD v4 |
7 | g.21636045C>A | CA366933573 | DNAH11 | c.4675C>A (p.Gln1559Lys) c.4690C>A (p.Gln1564Lys) n.701C>A | |
7 | g.21636045C= | CA1693586370 | DNAH11 | c.4675C= (p.Gln1559=) c.4690C= (p.Gln1564=) n.701C= | |
7 | g.21636045C>G | CA4180123 | DNAH11 | c.4675C>G (p.Gln1559Glu) c.4690C>G (p.Gln1564Glu) n.701C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21636045C>T | CA366933576 | DNAH11 | c.4675C>T (p.Gln1559Ter) c.4690C>T (p.Gln1564Ter) n.701C>T | |
7 | g.21636046A>C | CA366933577 | DNAH11 | c.4676A>C (p.Gln1559Pro) c.4691A>C (p.Gln1564Pro) n.702A>C | |
7 | g.21636046A>G | CA366933578 | DNAH11 | c.4676A>G (p.Gln1559Arg) c.4691A>G (p.Gln1564Arg) n.702A>G | |
7 | g.21636046A>T | CA366933580 | DNAH11 | c.4676A>T (p.Gln1559Leu) c.4691A>T (p.Gln1564Leu) n.702A>T | |
7 | g.21636047G>A | CA454139682 | DNAH11 | c.4677G>A (p.Gln1559=) c.4692G>A (p.Gln1564=) n.703G>A | |
7 | g.21636047G>C | CA366933583 | DNAH11 | c.4677G>C (p.Gln1559His) c.4692G>C (p.Gln1564His) n.703G>C | |
7 | g.21636047G>T | CA366933585 | DNAH11 | c.4677G>T (p.Gln1559His) c.4692G>T (p.Gln1564His) n.703G>T | gnomAD v4 |
7 | g.21636048C>A | CA366933588 | DNAH11 | c.4678C>A (p.Leu1560Ile) c.4693C>A (p.Leu1565Ile) n.704C>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21636048C= | CA1693586371 | DNAH11 | c.4678C= (p.Leu1560=) c.4693C= (p.Leu1565=) n.704C= | |
7 | g.21636048C>G | CA10582481 | DNAH11 | c.4678C>G (p.Leu1560Val) c.4693C>G (p.Leu1565Val) n.704C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21636048C>T | CA366933592 | DNAH11 | c.4678C>T (p.Leu1560Phe) c.4693C>T (p.Leu1565Phe) n.704C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21636049T>A | CA366933595 | DNAH11 | c.4679T>A (p.Leu1560His) c.4694T>A (p.Leu1565His) n.705T>A | |
7 | g.21636049T>C | CA366933597 | DNAH11 | c.4679T>C (p.Leu1560Pro) c.4694T>C (p.Leu1565Pro) n.705T>C | gnomAD v4 |
7 | g.21636049T>G | CA366933593 | DNAH11 | c.4679T>G (p.Leu1560Arg) c.4694T>G (p.Leu1565Arg) n.705T>G | COSMIC COSMIC |
7 | g.21636050T>A | CA454139684 | DNAH11 | c.4680T>A (p.Leu1560=) c.4695T>A (p.Leu1565=) n.706T>A | gnomAD v4 |
7 | g.21636050T>C | CA454139685 | DNAH11 | c.4680T>C (p.Leu1560=) c.4695T>C (p.Leu1565=) n.706T>C | |
7 | g.21636050T>G | CA454139686 | DNAH11 | c.4680T>G (p.Leu1560=) c.4695T>G (p.Leu1565=) n.706T>G | |
7 | g.21636051G>A | CA4180124 | DNAH11 | c.4681G>A (p.Val1561Met) c.4696G>A (p.Val1566Met) n.707G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21636051G>C | CA366933601 | DNAH11 | c.4681G>C (p.Val1561Leu) c.4696G>C (p.Val1566Leu) n.707G>C | |
7 | g.21636051G= | CA1693586372 | DNAH11 | c.4681G= (p.Val1561=) c.4696G= (p.Val1566=) n.707G= | |
7 | g.21636051G>T | CA366933603 | DNAH11 | c.4681G>T (p.Val1561Leu) c.4696G>T (p.Val1566Leu) n.707G>T | gnomAD v4 |
7 | g.21636052T>A | CA366933607 | DNAH11 | c.4682T>A (p.Val1561Glu) c.4697T>A (p.Val1566Glu) n.708T>A | |
7 | g.21636052T>C | CA366933608 | DNAH11 | c.4682T>C (p.Val1561Ala) c.4697T>C (p.Val1566Ala) n.708T>C | |
7 | g.21636052T>G | CA366933611 | DNAH11 | c.4682T>G (p.Val1561Gly) c.4697T>G (p.Val1566Gly) n.708T>G | |
7 | g.21636053G>A | CA454139687 | DNAH11 | c.4683G>A (p.Val1561=) c.4698G>A (p.Val1566=) n.709G>A | ClinVar |
7 | g.21636053G>C | CA454139689 | DNAH11 | c.4683G>C (p.Val1561=) c.4698G>C (p.Val1566=) n.709G>C | gnomAD v4 |
7 | g.21636053G= | CA1693586373 | DNAH11 | c.4683G= (p.Val1561=) c.4698G= (p.Val1566=) n.709G= | |
7 | g.21636053G>T | CA4180125 | DNAH11 | c.4683G>T (p.Val1561=) c.4698G>T (p.Val1566=) n.709G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21636054A>C | CA366933615 | DNAH11 | c.4684A>C (p.Lys1562Gln) c.4699A>C (p.Lys1567Gln) n.710A>C | |
7 | g.21636054A>G | CA366933617 | DNAH11 | c.4684A>G (p.Lys1562Glu) c.4699A>G (p.Lys1567Glu) n.710A>G | |
7 | g.21636054A>T | CA366933619 | DNAH11 | c.4684A>T (p.Lys1562Ter) c.4699A>T (p.Lys1567Ter) n.710A>T | |
7 | g.21636055A>C | CA366933622 | DNAH11 | c.4685A>C (p.Lys1562Thr) c.4700A>C (p.Lys1567Thr) n.711A>C | |
7 | g.21636055A>G | CA366933625 | DNAH11 | c.4685A>G (p.Lys1562Arg) c.4700A>G (p.Lys1567Arg) n.711A>G | |
7 | g.21636055A>T | CA366933626 | DNAH11 | c.4685A>T (p.Lys1562Ile) c.4700A>T (p.Lys1567Ile) n.711A>T | |
7 | g.21636056A>C | CA366933631 | DNAH11 | c.4686A>C (p.Lys1562Asn) c.4701A>C (p.Lys1567Asn) n.712A>C | |
7 | g.21636056A>G | CA454139691 | DNAH11 | c.4686A>G (p.Lys1562=) c.4701A>G (p.Lys1567=) n.712A>G | |
7 | g.21636056A>T | CA366933629 | DNAH11 | c.4686A>T (p.Lys1562Asn) c.4701A>T (p.Lys1567Asn) n.712A>T | |
7 | g.21636057G>A | CA366933634 | DNAH11 | c.4687G>A (p.Asp1563Asn) c.4702G>A (p.Asp1568Asn) n.713G>A | |
7 | g.21636057G>C | CA366933635 | DNAH11 | c.4687G>C (p.Asp1563His) c.4702G>C (p.Asp1568His) n.713G>C | |
7 | g.21636057G>T | CA366933637 | DNAH11 | c.4687G>T (p.Asp1563Tyr) c.4702G>T (p.Asp1568Tyr) n.713G>T | |
7 | g.21636058A= | CA1693586374 | DNAH11 | c.4688A= (p.Asp1563=) c.4703A= (p.Asp1568=) n.714A= | |
7 | g.21636058A>C | CA366933640 | DNAH11 | c.4688A>C (p.Asp1563Ala) c.4703A>C (p.Asp1568Ala) n.714A>C | |
7 | g.21636058A>G | CA366933642 | DNAH11 | c.4688A>G (p.Asp1563Gly) c.4703A>G (p.Asp1568Gly) n.714A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21636058A>T | CA366933645 | DNAH11 | c.4688A>T (p.Asp1563Val) c.4703A>T (p.Asp1568Val) n.714A>T | |
7 | g.21636059T>A | CA366933647 | DNAH11 | c.4689T>A (p.Asp1563Glu) c.4704T>A (p.Asp1568Glu) n.715T>A | |
7 | g.21636059T>C | CA454139694 | DNAH11 | c.4689T>C (p.Asp1563=) c.4704T>C (p.Asp1568=) n.715T>C | ClinVar gnomAD v4 |
7 | g.21636059T>G | CA366933648 | DNAH11 | c.4689T>G (p.Asp1563Glu) c.4704T>G (p.Asp1568Glu) n.715T>G | |
7 | g.21636060G>A | CA366933651 | DNAH11 | c.4690G>A (p.Ala1564Thr) c.4705G>A (p.Ala1569Thr) n.716G>A | gnomAD v4 |
7 | g.21636060G>C | CA366933653 | DNAH11 | c.4690G>C (p.Ala1564Pro) c.4705G>C (p.Ala1569Pro) n.716G>C | |
7 | g.21636060G= | CA1693586375 | DNAH11 | c.4690G= (p.Ala1564=) c.4705G= (p.Ala1569=) n.716G= | |
7 | g.21636060G>T | CA155066370 | DNAH11 | c.4690G>T (p.Ala1564Ser) c.4705G>T (p.Ala1569Ser) n.716G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21636061C>A | CA366933657 | DNAH11 | c.4691C>A (p.Ala1564Asp) c.4706C>A (p.Ala1569Asp) n.717C>A | |
7 | g.21636061C= | CA1693586376 | DNAH11 | c.4691C= (p.Ala1564=) c.4706C= (p.Ala1569=) n.717C= | |
7 | g.21636061C>G | CA155066380 | DNAH11 | c.4691C>G (p.Ala1564Gly) c.4706C>G (p.Ala1569Gly) n.717C>G | dbSNP gnomAD v4 |
7 | g.21636061C>T | CA366933660 | DNAH11 | c.4691C>T (p.Ala1564Val) c.4706C>T (p.Ala1569Val) n.717C>T | |
7 | g.21636062T>A | CA454139695 | DNAH11 | c.4692T>A (p.Ala1564=) c.4707T>A (p.Ala1569=) n.718T>A | |
7 | g.21636062T>C | CA454139696 | DNAH11 | c.4692T>C (p.Ala1564=) c.4707T>C (p.Ala1569=) n.718T>C | dbSNP |
7 | g.21636062T>G | CA454139697 | DNAH11 | c.4692T>G (p.Ala1564=) c.4707T>G (p.Ala1569=) n.718T>G | |
7 | g.21636062T= | CA1693586377 | DNAH11 | c.4692T= (p.Ala1564=) c.4707T= (p.Ala1569=) n.718T= | |
7 | g.21636063A= | CA1693586378 | DNAH11 | c.4693A= (p.Arg1565=) c.4708A= (p.Arg1570=) n.719A= | |
7 | g.21636063A>C | CA454139699 | DNAH11 | c.4693A>C (p.Arg1565=) c.4708A>C (p.Arg1570=) n.719A>C | |
7 | g.21636063A>G | CA366933664 | DNAH11 | c.4693A>G (p.Arg1565Gly) c.4708A>G (p.Arg1570Gly) n.719A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21636063A>T | CA366933662 | DNAH11 | c.4693A>T (p.Arg1565Ter) c.4708A>T (p.Arg1570Ter) n.719A>T | |
7 | g.21636064G>A | CA366933668 | DNAH11 | c.4694G>A (p.Arg1565Lys) c.4709G>A (p.Arg1570Lys) n.720G>A | |
7 | g.21636064G>C | CA366933672 | DNAH11 | c.4694G>C (p.Arg1565Thr) c.4709G>C (p.Arg1570Thr) n.720G>C | |
7 | g.21636064G>T | CA366933670 | DNAH11 | c.4694G>T (p.Arg1565Ile) c.4709G>T (p.Arg1570Ile) n.720G>T | |
7 | g.21636065A>C | CA366933675 | DNAH11 | c.4695A>C (p.Arg1565Ser) c.4710A>C (p.Arg1570Ser) n.721A>C | |
7 | g.21636065A>G | CA454139701 | DNAH11 | c.4695A>G (p.Arg1565=) c.4710A>G (p.Arg1570=) n.721A>G | gnomAD v4 |
7 | g.21636065A>T | CA366933677 | DNAH11 | c.4695A>T (p.Arg1565Ser) c.4710A>T (p.Arg1570Ser) n.721A>T | |
7 | g.21636066A>C | CA454139702 | DNAH11 | c.4696A>C (p.Arg1566=) c.4711A>C (p.Arg1571=) n.722A>C | |
7 | g.21636066A>G | CA366933680 | DNAH11 | c.4696A>G (p.Arg1566Gly) c.4711A>G (p.Arg1571Gly) n.722A>G | gnomAD v4 |
7 | g.21636066A>T | CA366933682 | DNAH11 | c.4696A>T (p.Arg1566Ter) c.4711A>T (p.Arg1571Ter) n.722A>T | |
7 | g.21636067G>A | CA366933685 | DNAH11 | c.4697G>A (p.Arg1566Lys) c.4712G>A (p.Arg1571Lys) n.723G>A | |
7 | g.21636067G>C | CA366933688 | DNAH11 | c.4697G>C (p.Arg1566Thr) c.4712G>C (p.Arg1571Thr) n.723G>C | |
7 | g.21636067G>T | CA366933690 | DNAH11 | c.4697G>T (p.Arg1566Ile) c.4712G>T (p.Arg1571Ile) n.723G>T | |
7 | g.21636068A>C | CA366933693 | DNAH11 | c.4698A>C (p.Arg1566Ser) c.4713A>C (p.Arg1571Ser) n.724A>C | |
7 | g.21636068A>G | CA454139703 | DNAH11 | c.4698A>G (p.Arg1566=) c.4713A>G (p.Arg1571=) n.724A>G | |
7 | g.21636068A>T | CA366933694 | DNAH11 | c.4698A>T (p.Arg1566Ser) c.4713A>T (p.Arg1571Ser) n.724A>T | |
7 | g.21636069T>A | CA366933698 | DNAH11 | c.4699T>A (p.Phe1567Ile) c.4714T>A (p.Phe1572Ile) n.725T>A | |
7 | g.21636069T>C | CA366933700 | DNAH11 | c.4699T>C (p.Phe1567Leu) c.4714T>C (p.Phe1572Leu) n.725T>C | |
7 | g.21636069T>G | CA366933702 | DNAH11 | c.4699T>G (p.Phe1567Val) c.4714T>G (p.Phe1572Val) n.725T>G | |
7 | g.21636070T>A | CA366933703 | DNAH11 | c.4700T>A (p.Phe1567Tyr) c.4715T>A (p.Phe1572Tyr) n.726T>A | |
7 | g.21636070T>C | CA4180126 | DNAH11 | c.4700T>C (p.Phe1567Ser) c.4715T>C (p.Phe1572Ser) n.726T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21636070T>G | CA366933706 | DNAH11 | c.4700T>G (p.Phe1567Cys) c.4715T>G (p.Phe1572Cys) n.726T>G | |
7 | g.21636070T= | CA1693586379 | DNAH11 | c.4700T= (p.Phe1567=) c.4715T= (p.Phe1572=) n.726T= | |
7 | g.21636071T>A | CA366933710 | DNAH11 | c.4701T>A (p.Phe1567Leu) c.4716T>A (p.Phe1572Leu) n.727T>A | |
7 | g.21636071T>C | CA454139704 | DNAH11 | c.4701T>C (p.Phe1567=) c.4716T>C (p.Phe1572=) n.727T>C | |
7 | g.21636071T>G | CA366933712 | DNAH11 | c.4701T>G (p.Phe1567Leu) c.4716T>G (p.Phe1572Leu) n.727T>G | |
7 | g.21636072G>A | CA366933714 | DNAH11 | c.4702G>A (p.Asp1568Asn) c.4717G>A (p.Asp1573Asn) n.728G>A | dbSNP gnomAD v2 |
7 | g.21636072G>C | CA366933715 | DNAH11 | c.4702G>C (p.Asp1568His) c.4717G>C (p.Asp1573His) n.728G>C | dbSNP |
7 | g.21636072G= | CA1693586380 | DNAH11 | c.4702G= (p.Asp1568=) c.4717G= (p.Asp1573=) n.728G= | |
7 | g.21636072G>T | CA366933717 | DNAH11 | c.4702G>T (p.Asp1568Tyr) c.4717G>T (p.Asp1573Tyr) n.728G>T | |
7 | g.21636073A= | CA1693586381 | DNAH11 | c.4703A= (p.Asp1568=) c.4718A= (p.Asp1573=) n.729A= | |
7 | g.21636073A>C | CA366933720 | DNAH11 | c.4703A>C (p.Asp1568Ala) c.4718A>C (p.Asp1573Ala) n.729A>C | |
7 | g.21636073A>G | CA366933722 | DNAH11 | c.4703A>G (p.Asp1568Gly) c.4718A>G (p.Asp1573Gly) n.729A>G | gnomAD v4 |
7 | g.21636073A>T | CA4180127 | DNAH11 | c.4703A>T (p.Asp1568Val) c.4718A>T (p.Asp1573Val) n.729A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21636074T>A | CA366933727 | DNAH11 | c.4704T>A (p.Asp1568Glu) c.4719T>A (p.Asp1573Glu) n.730T>A | gnomAD v4 |
7 | g.21636074T>C | CA4180128 | DNAH11 | c.4704T>C (p.Asp1568=) c.4719T>C (p.Asp1573=) n.730T>C | dbSNP ExAC gnomAD v2 |
7 | g.21636074T>G | CA366933731 | DNAH11 | c.4704T>G (p.Asp1568Glu) c.4719T>G (p.Asp1573Glu) n.730T>G | |
7 | g.21636074T= | CA1693586382 | DNAH11 | c.4704T= (p.Asp1568=) c.4719T= (p.Asp1573=) n.730T= | |
7 | g.21636075G>A | CA366933734 | DNAH11 | c.4705G>A (p.Gly1569Arg) c.4720G>A (p.Gly1574Arg) n.731G>A | |
7 | g.21636075G>C | CA366933736 | DNAH11 | c.4705G>C (p.Gly1569Arg) c.4720G>C (p.Gly1574Arg) n.731G>C | |
7 | g.21636075G>T | CA366933738 | DNAH11 | c.4705G>T (p.Gly1569Trp) c.4720G>T (p.Gly1574Trp) n.731G>T | |
7 | g.21636076G>A | CA366933741 | DNAH11 | c.4706G>A (p.Gly1569Glu) c.4721G>A (p.Gly1574Glu) n.732G>A | |
7 | g.21636076G>C | CA366933745 | DNAH11 | c.4706G>C (p.Gly1569Ala) c.4721G>C (p.Gly1574Ala) n.732G>C | |
7 | g.21636076G>T | CA366933743 | DNAH11 | c.4706G>T (p.Gly1569Val) c.4721G>T (p.Gly1574Val) n.732G>T | |
7 | g.21636077G>A | CA454139705 | DNAH11 | c.4707G>A (p.Gly1569=) c.4722G>A (p.Gly1574=) n.733G>A | gnomAD v4 |
7 | g.21636077G>C | CA454139706 | DNAH11 | c.4707G>C (p.Gly1569=) c.4722G>C (p.Gly1574=) n.733G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21636077G= | CA1693586383 | DNAH11 | c.4707G= (p.Gly1569=) c.4722G= (p.Gly1574=) n.733G= | |
7 | g.21636077G>T | CA4180129 | DNAH11 | c.4707G>T (p.Gly1569=) c.4722G>T (p.Gly1574=) n.733G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21636078G>A | CA4180130 | DNAH11 | c.4708G>A (p.Val1570Met) c.4723G>A (p.Val1575Met) n.734G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21636078G>C | CA366933750 | DNAH11 | c.4708G>C (p.Val1570Leu) c.4723G>C (p.Val1575Leu) n.734G>C | |
7 | g.21636078G= | CA1693586384 | DNAH11 | c.4708G= (p.Val1570=) c.4723G= (p.Val1575=) n.734G= | |
7 | g.21636078G>T | CA366933752 | DNAH11 | c.4708G>T (p.Val1570Leu) c.4723G>T (p.Val1575Leu) n.734G>T | |
7 | g.21636079T>A | CA366933755 | DNAH11 | c.4709T>A (p.Val1570Glu) c.4724T>A (p.Val1575Glu) | |
7 | g.21636079T>C | CA366933757 | DNAH11 | c.4709T>C (p.Val1570Ala) c.4724T>C (p.Val1575Ala) | |
7 | g.21636079T>G | CA366933759 | DNAH11 | c.4709T>G (p.Val1570Gly) c.4724T>G (p.Val1575Gly) | |
7 | g.21636080G>A | CA454139708 | DNAH11 | c.4710G>A (p.Val1570=) c.4725G>A (p.Val1575=) | gnomAD v4 |
7 | g.21636080G>C | CA454139707 | DNAH11 | c.4710G>C (p.Val1570=) c.4725G>C (p.Val1575=) | |
7 | g.21636080G>T | CA454139709 | DNAH11 | c.4710G>T (p.Val1570=) c.4725G>T (p.Val1575=) | |
7 | g.21636081G>A | CA366933762 | DNAH11 | c.4711G>A (p.Asp1571Asn) c.4726G>A (p.Asp1576Asn) | gnomAD v4 |
7 | g.21636081G>C | CA366933764 | DNAH11 | c.4711G>C (p.Asp1571His) c.4726G>C (p.Asp1576His) | COSMIC COSMIC |
7 | g.21636081G>T | CA366933766 | DNAH11 | c.4711G>T (p.Asp1571Tyr) c.4726G>T (p.Asp1576Tyr) | |
7 | g.21636082A>C | CA366933769 | DNAH11 | c.4712A>C (p.Asp1571Ala) c.4727A>C (p.Asp1576Ala) | |
7 | g.21636082A>G | CA366933771 | DNAH11 | c.4712A>G (p.Asp1571Gly) c.4727A>G (p.Asp1576Gly) | gnomAD v4 |
7 | g.21636082A>T | CA366933773 | DNAH11 | c.4712A>T (p.Asp1571Val) c.4727A>T (p.Asp1576Val) | gnomAD v4 |
7 | g.21636083T>A | CA366933774 | DNAH11 | c.4713T>A (p.Asp1571Glu) c.4728T>A (p.Asp1576Glu) | |
7 | g.21636083T>C | CA4180131 | DNAH11 | c.4713T>C (p.Asp1571=) c.4728T>C (p.Asp1576=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21636083T>G | CA366933776 | DNAH11 | c.4713T>G (p.Asp1571Glu) c.4728T>G (p.Asp1576Glu) | |
7 | g.21636083T= | CA1693586385 | DNAH11 | c.4713T= (p.Asp1571=) c.4728T= (p.Asp1576=) | |
7 | g.21636084G>A | CA366933782 | DNAH11 | c.4714G>A (p.Ala1572Thr) c.4729G>A (p.Ala1577Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21636084G>C | CA366933784 | DNAH11 | c.4714G>C (p.Ala1572Pro) c.4729G>C (p.Ala1577Pro) | |
7 | g.21636084G= | CA1693586386 | DNAH11 | c.4714G= (p.Ala1572=) c.4729G= (p.Ala1577=) | |
7 | g.21636084G>T | CA366933786 | DNAH11 | c.4714G>T (p.Ala1572Ser) c.4729G>T (p.Ala1577Ser) | |
7 | g.21636085C>A | CA366933788 | DNAH11 | c.4715C>A (p.Ala1572Asp) c.4730C>A (p.Ala1577Asp) | |
7 | g.21636085C= | CA1693586387 | DNAH11 | c.4715C= (p.Ala1572=) c.4730C= (p.Ala1577=) | |
7 | g.21636085C>G | CA366933789 | DNAH11 | c.4715C>G (p.Ala1572Gly) c.4730C>G (p.Ala1577Gly) | gnomAD v4 |
7 | g.21636085C>T | CA366933791 | DNAH11 | c.4715C>T (p.Ala1572Val) c.4730C>T (p.Ala1577Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21636086T>A | CA4180132 | DNAH11 | c.4716T>A (p.Ala1572=) c.4731T>A (p.Ala1577=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21636086T>C | CA454139398 | DNAH11 | c.4716T>C (p.Ala1572=) c.4731T>C (p.Ala1577=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21636086T>G | CA454139400 | DNAH11 | c.4716T>G (p.Ala1572=) c.4731T>G (p.Ala1577=) | |
7 | g.21636086T= | CA1693586388 | DNAH11 | c.4716T= (p.Ala1572=) c.4731T= (p.Ala1577=) | |
7 | g.21636087G>A | CA366933796 | DNAH11 | c.4717G>A (p.Glu1573Lys) c.4732G>A (p.Glu1578Lys) | gnomAD v4 COSMIC COSMIC |
7 | g.21636087G>C | CA366933798 | DNAH11 | c.4717G>C (p.Glu1573Gln) c.4732G>C (p.Glu1578Gln) | |
7 | g.21636087G>T | CA366933800 | DNAH11 | c.4717G>T (p.Glu1573Ter) c.4732G>T (p.Glu1578Ter) | gnomAD v4 |
7 | g.21636088A>C | CA366933805 | DNAH11 | c.4718A>C (p.Glu1573Ala) c.4733A>C (p.Glu1578Ala) | |
7 | g.21636088A>G | CA366933807 | DNAH11 | c.4718A>G (p.Glu1573Gly) c.4733A>G (p.Glu1578Gly) | |
7 | g.21636088A>T | CA366933803 | DNAH11 | c.4718A>T (p.Glu1573Val) c.4733A>T (p.Glu1578Val) | |
7 | g.21636089A= | CA1693586389 | DNAH11 | c.4719A= (p.Glu1573=) c.4734A= (p.Glu1578=) | |
7 | g.21636089A>C | CA366933811 | DNAH11 | c.4719A>C (p.Glu1573Asp) c.4734A>C (p.Glu1578Asp) | |
7 | g.21636089A>G | CA454139404 | DNAH11 | c.4719A>G (p.Glu1573=) c.4734A>G (p.Glu1578=) | |
7 | g.21636089A>T | CA366933809 | DNAH11 | c.4719A>T (p.Glu1573Asp) c.4734A>T (p.Glu1578Asp) | dbSNP gnomAD v4 |
7 | g.21636090T>A | CA366933813 | DNAH11 | c.4720T>A (p.Phe1574Ile) c.4735T>A (p.Phe1579Ile) | |
7 | g.21636090T>C | CA366933815 | DNAH11 | c.4720T>C (p.Phe1574Leu) c.4735T>C (p.Phe1579Leu) | |
7 | g.21636090T>G | CA366933817 | DNAH11 | c.4720T>G (p.Phe1574Val) c.4735T>G (p.Phe1579Val) | |
7 | g.21636091T>A | CA366933820 | DNAH11 | c.4721T>A (p.Phe1574Tyr) c.4736T>A (p.Phe1579Tyr) | |
7 | g.21636091T>C | CA366933822 | DNAH11 | c.4721T>C (p.Phe1574Ser) c.4736T>C (p.Phe1579Ser) | |
7 | g.21636091T>G | CA366933825 | DNAH11 | c.4721T>G (p.Phe1574Cys) c.4736T>G (p.Phe1579Cys) |