Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21864574G>A | CA366961637 | DNAH11 | c.11413G>A (p.Asp3805Asn) c.11434G>A (p.Asp3812Asn) | |
7 | g.21864574G>C | CA366961638 | DNAH11 | c.11413G>C (p.Asp3805His) c.11434G>C (p.Asp3812His) | |
7 | g.21864574G>T | CA366961639 | DNAH11 | c.11413G>T (p.Asp3805Tyr) c.11434G>T (p.Asp3812Tyr) | |
7 | g.21864575A= | CA1693722428 | DNAH11 | c.11414A= (p.Asp3805=) c.11435A= (p.Asp3812=) | |
7 | g.21864575A>C | CA366961640 | DNAH11 | c.11414A>C (p.Asp3805Ala) c.11435A>C (p.Asp3812Ala) | |
7 | g.21864575A>G | CA4182742 | DNAH11 | c.11414A>G (p.Asp3805Gly) c.11435A>G (p.Asp3812Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21864575A>T | CA366961641 | DNAH11 | c.11414A>T (p.Asp3805Val) c.11435A>T (p.Asp3812Val) | |
7 | g.21864576T>A | CA366961643 | DNAH11 | c.11415T>A (p.Asp3805Glu) c.11436T>A (p.Asp3812Glu) | |
7 | g.21864576T>C | CA453966360 | DNAH11 | c.11415T>C (p.Asp3805=) c.11436T>C (p.Asp3812=) | |
7 | g.21864576T>G | CA366961642 | DNAH11 | c.11415T>G (p.Asp3805Glu) c.11436T>G (p.Asp3812Glu) | |
7 | g.21864577T>A | CA4182743 | DNAH11 | c.11416T>A (p.Phe3806Ile) c.11437T>A (p.Phe3813Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21864577T>C | CA366961644 | DNAH11 | c.11416T>C (p.Phe3806Leu) c.11437T>C (p.Phe3813Leu) | |
7 | g.21864577T>G | CA366961645 | DNAH11 | c.11416T>G (p.Phe3806Val) c.11437T>G (p.Phe3813Val) | |
7 | g.21864577T= | CA1693722433 | DNAH11 | c.11416T= (p.Phe3806=) c.11437T= (p.Phe3813=) | |
7 | g.21864578T>A | CA366961646 | DNAH11 | c.11417T>A (p.Phe3806Tyr) c.11438T>A (p.Phe3813Tyr) | |
7 | g.21864578T>C | CA366961647 | DNAH11 | c.11417T>C (p.Phe3806Ser) c.11438T>C (p.Phe3813Ser) | |
7 | g.21864578T>G | CA366961648 | DNAH11 | c.11417T>G (p.Phe3806Cys) c.11438T>G (p.Phe3813Cys) | |
7 | g.21864579C>A | CA155138023 | DNAH11 | c.11418C>A (p.Phe3806Leu) c.11439C>A (p.Phe3813Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21864579C= | CA1693722449 | DNAH11 | c.11418C= (p.Phe3806=) c.11439C= (p.Phe3813=) | |
7 | g.21864579C>G | CA366961649 | DNAH11 | c.11418C>G (p.Phe3806Leu) c.11439C>G (p.Phe3813Leu) | |
7 | g.21864579C>T | CA182906 | DNAH11 | c.11418C>T (p.Phe3806=) c.11439C>T (p.Phe3813=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864580C>A | CA366961650 | DNAH11 | c.11419C>A (p.Leu3807Met) c.11440C>A (p.Leu3814Met) | |
7 | g.21864580C= | CA1693722460 | DNAH11 | c.11419C= (p.Leu3807=) c.11440C= (p.Leu3814=) | |
7 | g.21864580C>G | CA366961651 | DNAH11 | c.11419C>G (p.Leu3807Val) c.11440C>G (p.Leu3814Val) | |
7 | g.21864580C>T | CA453966361 | DNAH11 | c.11419C>T (p.Leu3807=) c.11440C>T (p.Leu3814=) | dbSNP gnomAD v4 |
7 | g.21864581T>A | CA366961652 | DNAH11 | c.11420T>A (p.Leu3807Gln) c.11441T>A (p.Leu3814Gln) | |
7 | g.21864581T>C | CA366961653 | DNAH11 | c.11420T>C (p.Leu3807Pro) c.11441T>C (p.Leu3814Pro) | |
7 | g.21864581T>G | CA366961654 | DNAH11 | c.11420T>G (p.Leu3807Arg) c.11441T>G (p.Leu3814Arg) | |
7 | g.21864582G>A | CA453966362 | DNAH11 | c.11421G>A (p.Leu3807=) c.11442G>A (p.Leu3814=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21864582G>C | CA453966363 | DNAH11 | c.11421G>C (p.Leu3807=) c.11442G>C (p.Leu3814=) | gnomAD v4 |
7 | g.21864582G= | CA1693722464 | DNAH11 | c.11421G= (p.Leu3807=) c.11442G= (p.Leu3814=) | |
7 | g.21864582G>T | CA453966364 | DNAH11 | c.11421G>T (p.Leu3807=) c.11442G>T (p.Leu3814=) | |
7 | g.21864583C>A | CA366961655 | DNAH11 | c.11422C>A (p.Leu3808Ile) c.11443C>A (p.Leu3815Ile) | |
7 | g.21864583C>G | CA366961656 | DNAH11 | c.11422C>G (p.Leu3808Val) c.11443C>G (p.Leu3815Val) | |
7 | g.21864583C>T | CA366961657 | DNAH11 | c.11422C>T (p.Leu3808Phe) c.11443C>T (p.Leu3815Phe) | |
7 | g.21864584T>A | CA366961658 | DNAH11 | c.11423T>A (p.Leu3808His) c.11444T>A (p.Leu3815His) | |
7 | g.21864584T>C | CA366961659 | DNAH11 | c.11423T>C (p.Leu3808Pro) c.11444T>C (p.Leu3815Pro) | |
7 | g.21864584T>G | CA366961660 | DNAH11 | c.11423T>G (p.Leu3808Arg) c.11444T>G (p.Leu3815Arg) | |
7 | g.21864585T>A | CA453966365 | DNAH11 | c.11424T>A (p.Leu3808=) c.11445T>A (p.Leu3815=) | |
7 | g.21864585T>C | CA453966366 | DNAH11 | c.11424T>C (p.Leu3808=) c.11445T>C (p.Leu3815=) | |
7 | g.21864585T>G | CA453966368 | DNAH11 | c.11424T>G (p.Leu3808=) c.11445T>G (p.Leu3815=) | |
7 | g.21864586C>A | CA453966369 | DNAH11 | c.11425C>A (p.Arg3809=) c.11446C>A (p.Arg3816=) | |
7 | g.21864586C= | CA1693722470 | DNAH11 | c.11425C= (p.Arg3809=) c.11446C= (p.Arg3816=) | |
7 | g.21864586C>G | CA366961661 | DNAH11 | c.11425C>G (p.Arg3809Gly) c.11446C>G (p.Arg3816Gly) | dbSNP |
7 | g.21864586C>T | CA4182744 | DNAH11 | c.11425C>T (p.Arg3809Ter) c.11446C>T (p.Arg3816Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.21864587G>A | CA4182745 | DNAH11 | c.11426G>A (p.Arg3809Gln) c.11447G>A (p.Arg3816Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21864587G>C | CA366961663 | DNAH11 | c.11426G>C (p.Arg3809Pro) c.11447G>C (p.Arg3816Pro) | gnomAD v4 |
7 | g.21864587G= | CA1693722479 | DNAH11 | c.11426G= (p.Arg3809=) c.11447G= (p.Arg3816=) | |
7 | g.21864587G>T | CA366961662 | DNAH11 | c.11426G>T (p.Arg3809Leu) c.11447G>T (p.Arg3816Leu) | COSMIC COSMIC |
7 | g.21864588A>C | CA453966370 | DNAH11 | c.11427A>C (p.Arg3809=) c.11448A>C (p.Arg3816=) | |
7 | g.21864588A>G | CA453966371 | DNAH11 | c.11427A>G (p.Arg3809=) c.11448A>G (p.Arg3816=) | |
7 | g.21864588A>T | CA453966372 | DNAH11 | c.11427A>T (p.Arg3809=) c.11448A>T (p.Arg3816=) | gnomAD v4 |
7 | g.21864589T>A | CA366961664 | DNAH11 | c.11428T>A (p.Phe3810Ile) c.11449T>A (p.Phe3817Ile) | |
7 | g.21864589T>C | CA366961665 | DNAH11 | c.11428T>C (p.Phe3810Leu) c.11449T>C (p.Phe3817Leu) | |
7 | g.21864589T>G | CA4182746 | DNAH11 | c.11428T>G (p.Phe3810Val) c.11449T>G (p.Phe3817Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21864589T= | CA1693722486 | DNAH11 | c.11428T= (p.Phe3810=) c.11449T= (p.Phe3817=) | |
7 | g.21864590T>A | CA366961666 | DNAH11 | c.11429T>A (p.Phe3810Tyr) c.11450T>A (p.Phe3817Tyr) | |
7 | g.21864590T>C | CA366961667 | DNAH11 | c.11429T>C (p.Phe3810Ser) c.11450T>C (p.Phe3817Ser) | |
7 | g.21864590T>G | CA366961668 | DNAH11 | c.11429T>G (p.Phe3810Cys) c.11450T>G (p.Phe3817Cys) | |
7 | g.21864591C>A | CA366961670 | DNAH11 | c.11430C>A (p.Phe3810Leu) c.11451C>A (p.Phe3817Leu) | |
7 | g.21864591C>G | CA366961669 | DNAH11 | c.11430C>G (p.Phe3810Leu) c.11451C>G (p.Phe3817Leu) | |
7 | g.21864591C>T | CA453966373 | DNAH11 | c.11430C>T (p.Phe3810=) c.11451C>T (p.Phe3817=) | |
7 | g.21864592A>C | CA366961671 | DNAH11 | c.11431A>C (p.Thr3811Pro) c.11452A>C (p.Thr3818Pro) | |
7 | g.21864592A>G | CA366961672 | DNAH11 | c.11431A>G (p.Thr3811Ala) c.11452A>G (p.Thr3818Ala) | |
7 | g.21864592A>T | CA366961673 | DNAH11 | c.11431A>T (p.Thr3811Ser) c.11452A>T (p.Thr3818Ser) | |
7 | g.21864593C>A | CA366961674 | DNAH11 | c.11432C>A (p.Thr3811Lys) c.11453C>A (p.Thr3818Lys) | |
7 | g.21864593C>G | CA366961675 | DNAH11 | c.11432C>G (p.Thr3811Arg) c.11453C>G (p.Thr3818Arg) | |
7 | g.21864593C>T | CA366961676 | DNAH11 | c.11432C>T (p.Thr3811Ile) c.11453C>T (p.Thr3818Ile) | |
7 | g.21864594A= | CA1693722493 | DNAH11 | c.11433A= (p.Thr3811=) c.11454A= (p.Thr3818=) | |
7 | g.21864594A>C | CA453966374 | DNAH11 | c.11433A>C (p.Thr3811=) c.11454A>C (p.Thr3818=) | |
7 | g.21864594A>G | CA453966375 | DNAH11 | c.11433A>G (p.Thr3811=) c.11454A>G (p.Thr3818=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21864594A>T | CA453966376 | DNAH11 | c.11433A>T (p.Thr3811=) c.11454A>T (p.Thr3818=) | dbSNP |
7 | g.21864595G>A | CA366961677 | DNAH11 | c.11434G>A (p.Val3812Ile) c.11455G>A (p.Val3819Ile) | |
7 | g.21864595G>C | CA155138031 | DNAH11 | c.11434G>C (p.Val3812Leu) c.11455G>C (p.Val3819Leu) | dbSNP gnomAD v4 |
7 | g.21864595G= | CA1693722502 | DNAH11 | c.11434G= (p.Val3812=) c.11455G= (p.Val3819=) | |
7 | g.21864595G>T | CA366961678 | DNAH11 | c.11434G>T (p.Val3812Phe) c.11455G>T (p.Val3819Phe) | |
7 | g.21864596T>A | CA366961679 | DNAH11 | c.11435T>A (p.Val3812Asp) c.11456T>A (p.Val3819Asp) | |
7 | g.21864596T>C | CA366961680 | DNAH11 | c.11435T>C (p.Val3812Ala) c.11456T>C (p.Val3819Ala) | dbSNP gnomAD v4 |
7 | g.21864596T>G | CA366961681 | DNAH11 | c.11435T>G (p.Val3812Gly) c.11456T>G (p.Val3819Gly) | |
7 | g.21864596T= | CA1693722512 | DNAH11 | c.11435T= (p.Val3812=) c.11456T= (p.Val3819=) | |
7 | g.21864597T>A | CA453966377 | DNAH11 | c.11436T>A (p.Val3812=) c.11457T>A (p.Val3819=) | |
7 | g.21864597T>C | CA453966378 | DNAH11 | c.11436T>C (p.Val3812=) c.11457T>C (p.Val3819=) | gnomAD v4 |
7 | g.21864597T>G | CA453966379 | DNAH11 | c.11436T>G (p.Val3812=) c.11457T>G (p.Val3819=) | |
7 | g.21864598G>A | CA4182747 | DNAH11 | c.11437G>A (p.Glu3813Lys) c.11458G>A (p.Glu3820Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21864598G>C | CA4182748 | DNAH11 | c.11437G>C (p.Glu3813Gln) c.11458G>C (p.Glu3820Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864598G= | CA1693722517 | DNAH11 | c.11437G= (p.Glu3813=) c.11458G= (p.Glu3820=) | |
7 | g.21864598G>T | CA366961682 | DNAH11 | c.11437G>T (p.Glu3813Ter) c.11458G>T (p.Glu3820Ter) | |
7 | g.21864599A>C | CA366961683 | DNAH11 | c.11438A>C (p.Glu3813Ala) c.11459A>C (p.Glu3820Ala) | |
7 | g.21864599A>G | CA366961684 | DNAH11 | c.11438A>G (p.Glu3813Gly) c.11459A>G (p.Glu3820Gly) | |
7 | g.21864599A>T | CA366961685 | DNAH11 | c.11438A>T (p.Glu3813Val) c.11459A>T (p.Glu3820Val) | |
7 | g.21864600A= | CA1693722522 | DNAH11 | c.11439A= (p.Glu3813=) c.11460A= (p.Glu3820=) | |
7 | g.21864600A>C | CA366961686 | DNAH11 | c.11439A>C (p.Glu3813Asp) c.11460A>C (p.Glu3820Asp) | |
7 | g.21864600A>G | CA453966380 | DNAH11 | c.11439A>G (p.Glu3813=) c.11460A>G (p.Glu3820=) | dbSNP |
7 | g.21864600A>T | CA366961687 | DNAH11 | c.11439A>T (p.Glu3813Asp) c.11460A>T (p.Glu3820Asp) | |
7 | g.21864601C>A | CA366961689 | DNAH11 | c.11440C>A (p.His3814Asn) c.11461C>A (p.His3821Asn) | |
7 | g.21864601C>G | CA366961690 | DNAH11 | c.11440C>G (p.His3814Asp) c.11461C>G (p.His3821Asp) | |
7 | g.21864601C>T | CA366961688 | DNAH11 | c.11440C>T (p.His3814Tyr) c.11461C>T (p.His3821Tyr) | |
7 | g.21864602A>C | CA366961693 | DNAH11 | c.11441A>C (p.His3814Pro) c.11462A>C (p.His3821Pro) | |
7 | g.21864602A>G | CA366961691 | DNAH11 | c.11441A>G (p.His3814Arg) c.11462A>G (p.His3821Arg) | |
7 | g.21864602A>T | CA366961692 | DNAH11 | c.11441A>T (p.His3814Leu) c.11462A>T (p.His3821Leu) | gnomAD v4 |
7 | g.21864603C>A | CA366961694 | DNAH11 | c.11442C>A (p.His3814Gln) c.11463C>A (p.His3821Gln) | |
7 | g.21864603C= | CA1693722536 | DNAH11 | c.11442C= (p.His3814=) c.11463C= (p.His3821=) | |
7 | g.21864603C>G | CA4182749 | DNAH11 | c.11442C>G (p.His3814Gln) c.11463C>G (p.His3821Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864603C>T | CA4182750 | DNAH11 | c.11442C>T (p.His3814=) c.11463C>T (p.His3821=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864604A= | CA1693722546 | DNAH11 | c.11443A= (p.Thr3815=) c.11464A= (p.Thr3822=) | |
7 | g.21864604A>C | CA366961697 | DNAH11 | c.11443A>C (p.Thr3815Pro) c.11464A>C (p.Thr3822Pro) | |
7 | g.21864604A>G | CA366961696 | DNAH11 | c.11443A>G (p.Thr3815Ala) c.11464A>G (p.Thr3822Ala) | ClinVar dbSNP |
7 | g.21864604A>T | CA366961695 | DNAH11 | c.11443A>T (p.Thr3815Ser) c.11464A>T (p.Thr3822Ser) | |
7 | g.21864605C>A | CA366961698 | DNAH11 | c.11444C>A (p.Thr3815Asn) c.11465C>A (p.Thr3822Asn) | dbSNP |
7 | g.21864605C= | CA1693722557 | DNAH11 | c.11444C= (p.Thr3815=) c.11465C= (p.Thr3822=) | |
7 | g.21864605C>G | CA366961699 | DNAH11 | c.11444C>G (p.Thr3815Ser) c.11465C>G (p.Thr3822Ser) | |
7 | g.21864605C>T | CA366961700 | DNAH11 | c.11444C>T (p.Thr3815Ile) c.11465C>T (p.Thr3822Ile) | gnomAD v4 COSMIC COSMIC |
7 | g.21864606T>A | CA453966382 | DNAH11 | c.11445T>A (p.Thr3815=) c.11466T>A (p.Thr3822=) | |
7 | g.21864606T>C | CA453966384 | DNAH11 | c.11445T>C (p.Thr3815=) c.11466T>C (p.Thr3822=) | |
7 | g.21864606T>G | CA453966383 | DNAH11 | c.11445T>G (p.Thr3815=) c.11466T>G (p.Thr3822=) | |
7 | g.21864607C>A | CA366961701 | DNAH11 | c.11446C>A (p.His3816Asn) c.11467C>A (p.His3823Asn) | |
7 | g.21864607C= | CA1693722565 | DNAH11 | c.11446C= (p.His3816=) c.11467C= (p.His3823=) | |
7 | g.21864607C>G | CA366961702 | DNAH11 | c.11446C>G (p.His3816Asp) c.11467C>G (p.His3823Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864607C>T | CA4182751 | DNAH11 | c.11446C>T (p.His3816Tyr) c.11467C>T (p.His3823Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21864608A= | CA1693722572 | DNAH11 | c.11447A= (p.His3816=) c.11468A= (p.His3823=) | |
7 | g.21864608A>C | CA366961704 | DNAH11 | c.11447A>C (p.His3816Pro) c.11468A>C (p.His3823Pro) | |
7 | g.21864608A>G | CA366961703 | DNAH11 | c.11447A>G (p.His3816Arg) c.11468A>G (p.His3823Arg) | |
7 | g.21864608A>T | CA155138048 | DNAH11 | c.11447A>T (p.His3816Leu) c.11468A>T (p.His3823Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21864609T>A | CA366961705 | DNAH11 | c.11448T>A (p.His3816Gln) c.11469T>A (p.His3823Gln) | dbSNP gnomAD v4 |
7 | g.21864609T>C | CA453966385 | DNAH11 | c.11448T>C (p.His3816=) c.11469T>C (p.His3823=) | ClinVar gnomAD v4 |
7 | g.21864609T>G | CA366961706 | DNAH11 | c.11448T>G (p.His3816Gln) c.11469T>G (p.His3823Gln) | |
7 | g.21864609T= | CA1693722579 | DNAH11 | c.11448T= (p.His3816=) c.11469T= (p.His3823=) | |
7 | g.21864610C>A | CA366961707 | DNAH11 | c.11449C>A (p.Leu3817Met) c.11470C>A (p.Leu3824Met) | |
7 | g.21864610C= | CA1693722584 | DNAH11 | c.11449C= (p.Leu3817=) c.11470C= (p.Leu3824=) | |
7 | g.21864610C>G | CA366961708 | DNAH11 | c.11449C>G (p.Leu3817Val) c.11470C>G (p.Leu3824Val) | gnomAD v4 |
7 | g.21864610C>T | CA155138051 | DNAH11 | c.11449C>T (p.Leu3817=) c.11470C>T (p.Leu3824=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21864611T>A | CA366961709 | DNAH11 | c.11450T>A (p.Leu3817Gln) c.11471T>A (p.Leu3824Gln) | |
7 | g.21864611T>C | CA366961710 | DNAH11 | c.11450T>C (p.Leu3817Pro) c.11471T>C (p.Leu3824Pro) | COSMIC COSMIC |
7 | g.21864611T>G | CA366961711 | DNAH11 | c.11450T>G (p.Leu3817Arg) c.11471T>G (p.Leu3824Arg) | gnomAD v4 |
7 | g.21864611dup | CA572924847 | DNAH11 | c.11450dup (p.Ser3818GlufsTer4) c.11471dup (p.Ser3825GlufsTer4) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864612G>A | CA453966386 | DNAH11 | c.11451G>A (p.Leu3817=) c.11472G>A (p.Leu3824=) | |
7 | g.21864612G>C | CA453966387 | DNAH11 | c.11451G>C (p.Leu3817=) c.11472G>C (p.Leu3824=) | |
7 | g.21864612G>T | CA453966388 | DNAH11 | c.11451G>T (p.Leu3817=) c.11472G>T (p.Leu3824=) | |
7 | g.21864613A>C | CA366961712 | DNAH11 | c.11452A>C (p.Ser3818Arg) c.11473A>C (p.Ser3825Arg) | |
7 | g.21864613A>G | CA366961713 | DNAH11 | c.11452A>G (p.Ser3818Gly) c.11473A>G (p.Ser3825Gly) | |
7 | g.21864613A>T | CA366961714 | DNAH11 | c.11452A>T (p.Ser3818Cys) c.11473A>T (p.Ser3825Cys) | |
7 | g.21864614G>A | CA366961715 | DNAH11 | c.11453G>A (p.Ser3818Asn) c.11474G>A (p.Ser3825Asn) | dbSNP |
7 | g.21864614G>C | CA366961716 | DNAH11 | c.11453G>C (p.Ser3818Thr) c.11474G>C (p.Ser3825Thr) | |
7 | g.21864614G= | CA1693722598 | DNAH11 | c.11453G= (p.Ser3818=) c.11474G= (p.Ser3825=) | |
7 | g.21864614G>T | CA366961717 | DNAH11 | c.11453G>T (p.Ser3818Ile) c.11474G>T (p.Ser3825Ile) | |
7 | g.21864616_21864620del | CA2681991235 | DNAH11 | c.11455_11459del (p.Pro3819Ter) c.11476_11480del (p.Pro3826Ter) | gnomAD v4 |
7 | g.21864615T>A | CA366961718 | DNAH11 | c.11454T>A (p.Ser3818Arg) c.11475T>A (p.Ser3825Arg) | |
7 | g.21864615T>C | CA4182752 | DNAH11 | c.11454T>C (p.Ser3818=) c.11475T>C (p.Ser3825=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864615T>G | CA366961719 | DNAH11 | c.11454T>G (p.Ser3818Arg) c.11475T>G (p.Ser3825Arg) | |
7 | g.21864615T= | CA1693722603 | DNAH11 | c.11454T= (p.Ser3818=) c.11475T= (p.Ser3825=) | |
7 | g.21864616C>A | CA366961720 | DNAH11 | c.11455C>A (p.Pro3819Thr) c.11476C>A (p.Pro3826Thr) | |
7 | g.21864616C>G | CA366961721 | DNAH11 | c.11455C>G (p.Pro3819Ala) c.11476C>G (p.Pro3826Ala) | |
7 | g.21864616C>T | CA366961722 | DNAH11 | c.11455C>T (p.Pro3819Ser) c.11476C>T (p.Pro3826Ser) | ClinVar |
7 | g.21864617C>A | CA4182753 | DNAH11 | c.11456C>A (p.Pro3819His) c.11477C>A (p.Pro3826His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864617C= | CA1693722611 | DNAH11 | c.11456C= (p.Pro3819=) c.11477C= (p.Pro3826=) | |
7 | g.21864617C>G | CA155138062 | DNAH11 | c.11456C>G (p.Pro3819Arg) c.11477C>G (p.Pro3826Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864617C>T | CA366961723 | DNAH11 | c.11456C>T (p.Pro3819Leu) c.11477C>T (p.Pro3826Leu) | |
7 | g.21864618C>A | CA453966389 | DNAH11 | c.11457C>A (p.Pro3819=) c.11478C>A (p.Pro3826=) | |
7 | g.21864618C= | CA1693722622 | DNAH11 | c.11457C= (p.Pro3819=) c.11478C= (p.Pro3826=) | |
7 | g.21864618C>G | CA453966390 | DNAH11 | c.11457C>G (p.Pro3819=) c.11478C>G (p.Pro3826=) | dbSNP gnomAD v2 |
7 | g.21864618C>T | CA337366 | DNAH11 | c.11457C>T (p.Pro3819=) c.11478C>T (p.Pro3826=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864619G>A | CA4182754 | DNAH11 | c.11458G>A (p.Val3820Ile) c.11479G>A (p.Val3827Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864619G>C | CA366961724 | DNAH11 | c.11458G>C (p.Val3820Leu) c.11479G>C (p.Val3827Leu) | |
7 | g.21864619G= | CA1693722634 | DNAH11 | c.11458G= (p.Val3820=) c.11479G= (p.Val3827=) | |
7 | g.21864619G>T | CA4182755 | DNAH11 | c.11458G>T (p.Val3820Phe) c.11479G>T (p.Val3827Phe) | dbSNP ExAC gnomAD v2 |
7 | g.21864620T>A | CA366961725 | DNAH11 | c.11459T>A (p.Val3820Asp) c.11480T>A (p.Val3827Asp) | |
7 | g.21864620T>C | CA4182756 | DNAH11 | c.11459T>C (p.Val3820Ala) c.11480T>C (p.Val3827Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864620T>G | CA366961726 | DNAH11 | c.11459T>G (p.Val3820Gly) c.11480T>G (p.Val3827Gly) | |
7 | g.21864620T= | CA1693722642 | DNAH11 | c.11459T= (p.Val3820=) c.11480T= (p.Val3827=) | |
7 | g.21864621T>A | CA453966391 | DNAH11 | c.11460T>A (p.Val3820=) c.11481T>A (p.Val3827=) | |
7 | g.21864621T>C | CA453966392 | DNAH11 | c.11460T>C (p.Val3820=) c.11481T>C (p.Val3827=) | |
7 | g.21864621T>G | CA453966393 | DNAH11 | c.11460T>G (p.Val3820=) c.11481T>G (p.Val3827=) | |
7 | g.21864622G>A | CA366961727 | DNAH11 | c.11461G>A (p.Asp3821Asn) c.11482G>A (p.Asp3828Asn) | gnomAD v4 |
7 | g.21864622G>C | CA366961729 | DNAH11 | c.11461G>C (p.Asp3821His) c.11482G>C (p.Asp3828His) | |
7 | g.21864622G>T | CA366961728 | DNAH11 | c.11461G>T (p.Asp3821Tyr) c.11482G>T (p.Asp3828Tyr) | gnomAD v4 |
7 | g.21864623A>C | CA366961730 | DNAH11 | c.11462A>C (p.Asp3821Ala) c.11483A>C (p.Asp3828Ala) | |
7 | g.21864623A>G | CA366961731 | DNAH11 | c.11462A>G (p.Asp3821Gly) c.11483A>G (p.Asp3828Gly) | |
7 | g.21864623A>T | CA366961732 | DNAH11 | c.11462A>T (p.Asp3821Val) c.11483A>T (p.Asp3828Val) | |
7 | g.21864623_21864624insAATAGGGAAT | CA2572687503 | DNAH11 | c.11462_11463insAATAGGGAAT (p.Asp3821GlufsTer?) c.11483_11484insAATAGGGAAT (p.Asp3828GlufsTer?) | |
7 | g.21864624C>A | CA366961733 | DNAH11 | c.11463C>A (p.Asp3821Glu) c.11484C>A (p.Asp3828Glu) | |
7 | g.21864624C>G | CA366961734 | DNAH11 | c.11463C>G (p.Asp3821Glu) c.11484C>G (p.Asp3828Glu) | gnomAD v4 |
7 | g.21864624C>T | CA453966394 | DNAH11 | c.11463C>T (p.Asp3821=) c.11484C>T (p.Asp3828=) | |
7 | g.21864625T>A | CA366961735 | DNAH11 | c.11464T>A (p.Phe3822Ile) c.11485T>A (p.Phe3829Ile) | |
7 | g.21864625T>C | CA366961736 | DNAH11 | c.11464T>C (p.Phe3822Leu) c.11485T>C (p.Phe3829Leu) | |
7 | g.21864625T>G | CA4182757 | DNAH11 | c.11464T>G (p.Phe3822Val) c.11485T>G (p.Phe3829Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21864625T= | CA1693722647 | DNAH11 | c.11464T= (p.Phe3822=) c.11485T= (p.Phe3829=) | |
7 | g.21864626T>A | CA366961737 | DNAH11 | c.11465T>A (p.Phe3822Tyr) c.11486T>A (p.Phe3829Tyr) | |
7 | g.21864626T>C | CA366961738 | DNAH11 | c.11465T>C (p.Phe3822Ser) c.11486T>C (p.Phe3829Ser) | |
7 | g.21864626T>G | CA366961739 | DNAH11 | c.11465T>G (p.Phe3822Cys) c.11486T>G (p.Phe3829Cys) | |
7 | g.21864627C>A | CA366961741 | DNAH11 | c.11466C>A (p.Phe3822Leu) c.11487C>A (p.Phe3829Leu) | |
7 | g.21864627C>G | CA366961740 | DNAH11 | c.11466C>G (p.Phe3822Leu) c.11487C>G (p.Phe3829Leu) | |
7 | g.21864627C>T | CA453966395 | DNAH11 | c.11466C>T (p.Phe3822=) c.11487C>T (p.Phe3829=) | |
7 | g.21864628C>A | CA366961742 | DNAH11 | c.11467C>A (p.Leu3823Ile) c.11488C>A (p.Leu3830Ile) | gnomAD v4 |
7 | g.21864628C>G | CA366961743 | DNAH11 | c.11467C>G (p.Leu3823Val) c.11488C>G (p.Leu3830Val) | |
7 | g.21864628C>T | CA453966396 | DNAH11 | c.11467C>T (p.Leu3823=) c.11488C>T (p.Leu3830=) | gnomAD v4 |
7 | g.21864629T>A | CA366961744 | DNAH11 | c.11468T>A (p.Leu3823Gln) c.11489T>A (p.Leu3830Gln) | |
7 | g.21864629T>C | CA366961745 | DNAH11 | c.11468T>C (p.Leu3823Pro) c.11489T>C (p.Leu3830Pro) | gnomAD v4 |
7 | g.21864629T>G | CA366961746 | DNAH11 | c.11468T>G (p.Leu3823Arg) c.11489T>G (p.Leu3830Arg) | |
7 | g.21864630A= | CA1693722653 | DNAH11 | c.11469A= (p.Leu3823=) c.11490A= (p.Leu3830=) | |
7 | g.21864630A>C | CA4182758 | DNAH11 | c.11469A>C (p.Leu3823=) c.11490A>C (p.Leu3830=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864630A>G | CA453966398 | DNAH11 | c.11469A>G (p.Leu3823=) c.11490A>G (p.Leu3830=) | dbSNP gnomAD v4 |
7 | g.21864630A>T | CA453966397 | DNAH11 | c.11469A>T (p.Leu3823=) c.11490A>T (p.Leu3830=) | gnomAD v4 |
7 | g.21864631A>C | CA366961747 | DNAH11 | c.11470A>C (p.Thr3824Pro) c.11491A>C (p.Thr3831Pro) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21864631A>G | CA366961748 | DNAH11 | c.11470A>G (p.Thr3824Ala) c.11491A>G (p.Thr3831Ala) | |
7 | g.21864631A>T | CA366961749 | DNAH11 | c.11470A>T (p.Thr3824Ser) c.11491A>T (p.Thr3831Ser) | |
7 | g.21864632C>A | CA366961750 | DNAH11 | c.11471C>A (p.Thr3824Asn) c.11492C>A (p.Thr3831Asn) | |
7 | g.21864632C>G | CA366961751 | DNAH11 | c.11471C>G (p.Thr3824Ser) c.11492C>G (p.Thr3831Ser) | |
7 | g.21864632C>T | CA366961752 | DNAH11 | c.11471C>T (p.Thr3824Ile) c.11492C>T (p.Thr3831Ile) | gnomAD v4 |
7 | g.21864633T>A | CA453966399 | DNAH11 | c.11472T>A (p.Thr3824=) c.11493T>A (p.Thr3831=) | |
7 | g.21864633T>C | CA453966400 | DNAH11 | c.11472T>C (p.Thr3824=) c.11493T>C (p.Thr3831=) | |
7 | g.21864633T>G | CA453966401 | DNAH11 | c.11472T>G (p.Thr3824=) c.11493T>G (p.Thr3831=) | |
7 | g.21864634T>A | CA366961753 | DNAH11 | c.11473T>A (p.Ser3825Thr) c.11494T>A (p.Ser3832Thr) | |
7 | g.21864634T>C | CA366961754 | DNAH11 | c.11473T>C (p.Ser3825Pro) c.11494T>C (p.Ser3832Pro) | dbSNP gnomAD v4 |
7 | g.21864634T>G | CA366961755 | DNAH11 | c.11473T>G (p.Ser3825Ala) c.11494T>G (p.Ser3832Ala) | |
7 | g.21864634T= | CA1693722658 | DNAH11 | c.11473T= (p.Ser3825=) c.11494T= (p.Ser3832=) | |
7 | g.21864635C>A | CA366961756 | DNAH11 | c.11474C>A (p.Ser3825Tyr) c.11495C>A (p.Ser3832Tyr) | |
7 | g.21864635C>G | CA366961758 | DNAH11 | c.11474C>G (p.Ser3825Cys) c.11495C>G (p.Ser3832Cys) | |
7 | g.21864635C>T | CA366961757 | DNAH11 | c.11474C>T (p.Ser3825Phe) c.11495C>T (p.Ser3832Phe) | COSMIC |
7 | g.21864636T>A | CA453966402 | DNAH11 | c.11475T>A (p.Ser3825=) c.11496T>A (p.Ser3832=) | |
7 | g.21864636T>C | CA453966403 | DNAH11 | c.11475T>C (p.Ser3825=) c.11496T>C (p.Ser3832=) | |
7 | g.21864636T>G | CA453966404 | DNAH11 | c.11475T>G (p.Ser3825=) c.11496T>G (p.Ser3832=) | |
7 | g.21864637C>A | CA366961759 | DNAH11 | c.11476C>A (p.Gln3826Lys) c.11497C>A (p.Gln3833Lys) | |
7 | g.21864637C>G | CA366961760 | DNAH11 | c.11476C>G (p.Gln3826Glu) c.11497C>G (p.Gln3833Glu) | |
7 | g.21864637C>T | CA366961761 | DNAH11 | c.11476C>T (p.Gln3826Ter) c.11497C>T (p.Gln3833Ter) | |
7 | g.21864638A>C | CA366961762 | DNAH11 | c.11477A>C (p.Gln3826Pro) c.11498A>C (p.Gln3833Pro) | |
7 | g.21864638A>G | CA366961763 | DNAH11 | c.11477A>G (p.Gln3826Arg) c.11498A>G (p.Gln3833Arg) | |
7 | g.21864638A>T | CA366961764 | DNAH11 | c.11477A>T (p.Gln3826Leu) c.11498A>T (p.Gln3833Leu) | |
7 | g.21864639G>A | CA453966405 | DNAH11 | c.11478G>A (p.Gln3826=) c.11499G>A (p.Gln3833=) | gnomAD v4 |
7 | g.21864639G>C | CA366961765 | DNAH11 | c.11478G>C (p.Gln3826His) c.11499G>C (p.Gln3833His) | |
7 | g.21864639G>T | CA366961766 | DNAH11 | c.11478G>T (p.Gln3826His) c.11499G>T (p.Gln3833His) | |
7 | g.21864640T>A | CA366961767 | DNAH11 | c.11479T>A (p.Ser3827Thr) c.11500T>A (p.Ser3834Thr) | |
7 | g.21864640T>C | CA366961768 | DNAH11 | c.11479T>C (p.Ser3827Pro) c.11500T>C (p.Ser3834Pro) | |
7 | g.21864640T>G | CA366961769 | DNAH11 | c.11479T>G (p.Ser3827Ala) c.11500T>G (p.Ser3834Ala) | gnomAD v4 |
7 | g.21864641C>A | CA366961772 | DNAH11 | c.11480C>A (p.Ser3827Ter) c.11501C>A (p.Ser3834Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864641C= | CA1693722667 | DNAH11 | c.11480C= (p.Ser3827=) c.11501C= (p.Ser3834=) | |
7 | g.21864641C>G | CA366961771 | DNAH11 | c.11480C>G (p.Ser3827Ter) c.11501C>G (p.Ser3834Ter) | |
7 | g.21864641C>T | CA366961770 | DNAH11 | c.11480C>T (p.Ser3827Leu) c.11501C>T (p.Ser3834Leu) | dbSNP gnomAD v4 |
7 | g.21864642A>C | CA453966406 | DNAH11 | c.11481A>C (p.Ser3827=) c.11502A>C (p.Ser3834=) | |
7 | g.21864642A>G | CA453966407 | DNAH11 | c.11481A>G (p.Ser3827=) c.11502A>G (p.Ser3834=) | |
7 | g.21864642A>T | CA453966408 | DNAH11 | c.11481A>T (p.Ser3827=) c.11502A>T (p.Ser3834=) | |
7 | g.21864643T>A | CA366961775 | DNAH11 | c.11482T>A (p.Trp3828Arg) c.11503T>A (p.Trp3835Arg) | |
7 | g.21864643T>C | CA366961773 | DNAH11 | c.11482T>C (p.Trp3828Arg) c.11503T>C (p.Trp3835Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21864643T>G | CA366961774 | DNAH11 | c.11482T>G (p.Trp3828Gly) c.11503T>G (p.Trp3835Gly) | gnomAD v4 |
7 | g.21864643T= | CA1693722694 | DNAH11 | c.11482T= (p.Trp3828=) c.11503T= (p.Trp3835=) | |
7 | g.21864644G>A | CA366961776 | DNAH11 | c.11483G>A (p.Trp3828Ter) c.11504G>A (p.Trp3835Ter) | |
7 | g.21864644G>C | CA366961777 | DNAH11 | c.11483G>C (p.Trp3828Ser) c.11504G>C (p.Trp3835Ser) | |
7 | g.21864644G= | CA1693722704 | DNAH11 | c.11483G= (p.Trp3828=) c.11504G= (p.Trp3835=) | |
7 | g.21864644G>T | CA366961778 | DNAH11 | c.11483G>T (p.Trp3828Leu) c.11504G>T (p.Trp3835Leu) | ClinVar dbSNP |
7 | g.21864645G>A | CA366961779 | DNAH11 | c.11484G>A (p.Trp3828Ter) c.11505G>A (p.Trp3835Ter) | |
7 | g.21864645G>C | CA366961780 | DNAH11 | c.11484G>C (p.Trp3828Cys) c.11505G>C (p.Trp3835Cys) | |
7 | g.21864645G= | CA1693722715 | DNAH11 | c.11484G= (p.Trp3828=) c.11505G= (p.Trp3835=) | |
7 | g.21864645G>T | CA366961781 | DNAH11 | c.11484G>T (p.Trp3828Cys) c.11505G>T (p.Trp3835Cys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21864646A>C | CA366961782 | DNAH11 | c.11485A>C (p.Ser3829Arg) c.11506A>C (p.Ser3836Arg) | COSMIC |
7 | g.21864646A>G | CA366961783 | DNAH11 | c.11485A>G (p.Ser3829Gly) c.11506A>G (p.Ser3836Gly) | |
7 | g.21864646A>T | CA366961784 | DNAH11 | c.11485A>T (p.Ser3829Cys) c.11506A>T (p.Ser3836Cys) | |
7 | g.21864647G>A | CA366961785 | DNAH11 | c.11486G>A (p.Ser3829Asn) c.11507G>A (p.Ser3836Asn) | |
7 | g.21864647G>C | CA366961786 | DNAH11 | c.11486G>C (p.Ser3829Thr) c.11507G>C (p.Ser3836Thr) | |
7 | g.21864647G>T | CA366961787 | DNAH11 | c.11486G>T (p.Ser3829Ile) c.11507G>T (p.Ser3836Ile) | |
7 | g.21864647_21864648insCTG | CA2681991236 | DNAH11 | c.11486_11487insCTG (p.Ser3829_Ala3830insCys) c.11507_11508insCTG (p.Ser3836_Ala3837insCys) | gnomAD v4 |
7 | g.21864648_21864649del | CA2681991237 | DNAH11 | c.11487_11488del (p.Ala3830TyrfsTer?) c.11508_11509del (p.Ala3837TyrfsTer?) | gnomAD v4 |
7 | g.21864648T>A | CA366961788 | DNAH11 | c.11487T>A (p.Ser3829Arg) c.11508T>A (p.Ser3836Arg) | |
7 | g.21864648T>C | CA453966409 | DNAH11 | c.11487T>C (p.Ser3829=) c.11508T>C (p.Ser3836=) | |
7 | g.21864648T>G | CA4182759 | DNAH11 | c.11487T>G (p.Ser3829Arg) c.11508T>G (p.Ser3836Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21864648T= | CA1693722722 | DNAH11 | c.11487T= (p.Ser3829=) c.11508T= (p.Ser3836=) | |
7 | g.21864649G>A | CA366961790 | DNAH11 | c.11488G>A (p.Ala3830Thr) c.11509G>A (p.Ala3837Thr) | gnomAD v4 |
7 | g.21864649G>C | CA366961791 | DNAH11 | c.11488G>C (p.Ala3830Pro) c.11509G>C (p.Ala3837Pro) | |
7 | g.21864649G>T | CA366961792 | DNAH11 | c.11488G>T (p.Ala3830Ser) c.11509G>T (p.Ala3837Ser) | |
7 | g.21864650C>A | CA366961793 | DNAH11 | c.11489C>A (p.Ala3830Asp) c.11510C>A (p.Ala3837Asp) | COSMIC COSMIC |
7 | g.21864650C= | CA1693722731 | DNAH11 | c.11489C= (p.Ala3830=) c.11510C= (p.Ala3837=) | |
7 | g.21864650C>G | CA366961794 | DNAH11 | c.11489C>G (p.Ala3830Gly) c.11510C>G (p.Ala3837Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21864650C>T | CA366961795 | DNAH11 | c.11489C>T (p.Ala3830Val) c.11510C>T (p.Ala3837Val) | ClinVar dbSNP |
7 | g.21864651T>A | CA453966410 | DNAH11 | c.11490T>A (p.Ala3830=) c.11511T>A (p.Ala3837=) | |
7 | g.21864651T>C | CA453966411 | DNAH11 | c.11490T>C (p.Ala3830=) c.11511T>C (p.Ala3837=) | |
7 | g.21864651T>G | CA453966412 | DNAH11 | c.11490T>G (p.Ala3830=) c.11511T>G (p.Ala3837=) | |
7 | g.21864652A= | CA1693722736 | DNAH11 | c.11491A= (p.Ile3831=) c.11512A= (p.Ile3838=) | |
7 | g.21864652A>C | CA366961796 | DNAH11 | c.11491A>C (p.Ile3831Leu) c.11512A>C (p.Ile3838Leu) | |
7 | g.21864652A>G | CA366961797 | DNAH11 | c.11491A>G (p.Ile3831Val) c.11512A>G (p.Ile3838Val) | dbSNP gnomAD v4 |
7 | g.21864652A>T | CA366961798 | DNAH11 | c.11491A>T (p.Ile3831Phe) c.11512A>T (p.Ile3838Phe) | |
7 | g.21864653T>A | CA366961799 | DNAH11 | c.11492T>A (p.Ile3831Asn) c.11513T>A (p.Ile3838Asn) | |
7 | g.21864653T>C | CA366961800 | DNAH11 | c.11492T>C (p.Ile3831Thr) c.11513T>C (p.Ile3838Thr) | gnomAD v4 |
7 | g.21864653T>G | CA366961801 | DNAH11 | c.11492T>G (p.Ile3831Ser) c.11513T>G (p.Ile3838Ser) | |
7 | g.21864654C>A | CA453966413 | DNAH11 | c.11493C>A (p.Ile3831=) c.11514C>A (p.Ile3838=) | dbSNP gnomAD v4 |
7 | g.21864654C= | CA1693722740 | DNAH11 | c.11493C= (p.Ile3831=) c.11514C= (p.Ile3838=) | |
7 | g.21864654C>G | CA366961802 | DNAH11 | c.11493C>G (p.Ile3831Met) c.11514C>G (p.Ile3838Met) | gnomAD v4 |
7 | g.21864654C>T | CA453966414 | DNAH11 | c.11493C>T (p.Ile3831=) c.11514C>T (p.Ile3838=) | |
7 | g.21864655A>C | CA366961804 | DNAH11 | c.11494A>C (p.Lys3832Gln) c.11515A>C (p.Lys3839Gln) | |
7 | g.21864655A>G | CA366961805 | DNAH11 | c.11494A>G (p.Lys3832Glu) c.11515A>G (p.Lys3839Glu) | |
7 | g.21864655A>T | CA366961803 | DNAH11 | c.11494A>T (p.Lys3832Ter) c.11515A>T (p.Lys3839Ter) | |
7 | g.21864656A= | CA1693722761 | DNAH11 | c.11495A= (p.Lys3832=) c.11516A= (p.Lys3839=) | |
7 | g.21864656A>C | CA366961806 | DNAH11 | c.11495A>C (p.Lys3832Thr) c.11516A>C (p.Lys3839Thr) | |
7 | g.21864656A>G | CA366961808 | DNAH11 | c.11495A>G (p.Lys3832Arg) c.11516A>G (p.Lys3839Arg) | gnomAD v4 |
7 | g.21864656A>T | CA366961807 | DNAH11 | c.11495A>T (p.Lys3832Met) c.11516A>T (p.Lys3839Met) | |
7 | g.21864656_21864657insTT | CA155138147 | DNAH11 | c.11495_11496insTT (p.Lys3832AsnfsTer13) c.11516_11517insTT (p.Lys3839AsnfsTer13) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21864657G>A | CA453966415 | DNAH11 | c.11496G>A (p.Lys3832=) c.11517G>A (p.Lys3839=) | |
7 | g.21864657G>C | CA366961809 | DNAH11 | c.11496G>C (p.Lys3832Asn) c.11517G>C (p.Lys3839Asn) | |
7 | g.21864657G>T | CA366961810 | DNAH11 | c.11496G>T (p.Lys3832Asn) c.11517G>T (p.Lys3839Asn) | gnomAD v4 |
7 | g.21864658G>A | CA366961811 | DNAH11 | c.11496+1G>A (n.11496+1G>A) c.11517+1G>A (n.11517+1G>A) | |
7 | g.21864658G>C | CA366961812 | DNAH11 | c.11496+1G>C (n.11496+1G>C) c.11517+1G>C (n.11517+1G>C) | |
7 | g.21864658G>T | CA366961813 | DNAH11 | c.11496+1G>T (n.11496+1G>T) c.11517+1G>T (n.11517+1G>T) | ClinVar |
7 | g.21864659T>A | CA366961814 | DNAH11 | c.11496+2T>A (n.11496+2T>A) c.11517+2T>A (n.11517+2T>A) | |
7 | g.21864659T>C | CA366961815 | DNAH11 | c.11496+2T>C (n.11496+2T>C) c.11517+2T>C (n.11517+2T>C) | |
7 | g.21864659T>G | CA366961816 | DNAH11 | c.11496+2T>G (n.11496+2T>G) c.11517+2T>G (n.11517+2T>G) | |
7 | g.21864660A>G | CA2514813673 | DNAH11 | c.11496+3A>G (n.11496+3A>G) c.11517+3A>G (n.11517+3A>G) | gnomAD v4 |
7 | g.21864661T>A | CA572924856 | DNAH11 | c.11496+4T>A (n.11496+4T>A) c.11517+4T>A (n.11517+4T>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21864661T= | CA1693722764 | DNAH11 | c.11496+4T= (n.11496+4T=) c.11517+4T= (n.11517+4T=) | |
7 | g.21864662G>A | CA572924858 | DNAH11 | c.11496+5G>A (n.11496+5G>A) c.11517+5G>A (n.11517+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21864662G= | CA1693722765 | DNAH11 | c.11496+5G= (n.11496+5G=) c.11517+5G= (n.11517+5G=) | |
7 | g.21864662G>T | CA2681991238 | DNAH11 | c.11496+5G>T (n.11496+5G>T) c.11517+5G>T (n.11517+5G>T) | gnomAD v4 |
7 | g.21864663T>C | CA2681991240 | DNAH11 | c.11496+6T>C (n.11496+6T>C) c.11517+6T>C (n.11517+6T>C) | gnomAD v4 |
7 | g.21864664del | CA2681991239 | DNAH11 | c.11496+7del (n.11496+7del) c.11517+7del (n.11517+7del) | gnomAD v4 |
7 | g.21864664T>G | CA1693722772 | DNAH11 | c.11496+7T>G (n.11496+7T>G) c.11517+7T>G (n.11517+7T>G) | ClinVar dbSNP gnomAD v4 |
7 | g.21864664T= | CA1693722770 | DNAH11 | c.11496+7T= (n.11496+7T=) c.11517+7T= (n.11517+7T=) | |
7 | g.21864665A>G | CA2681991241 | DNAH11 | c.11496+8A>G (n.11496+8A>G) c.11517+8A>G (n.11517+8A>G) | gnomAD v4 |
7 | g.21864666G>A | CA155138150 | DNAH11 | c.11496+9G>A (n.11496+9G>A) c.11517+9G>A (n.11517+9G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864666G>C | CA155138151 | DNAH11 | c.11496+9G>C (n.11496+9G>C) c.11517+9G>C (n.11517+9G>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21864666G= | CA1693722776 | DNAH11 | c.11496+9G= (n.11496+9G=) c.11517+9G= (n.11517+9G=) | |
7 | g.21864667G>A | CA836666235 | DNAH11 | c.11496+10G>A (n.11496+10G>A) c.11517+10G>A (n.11517+10G>A) | dbSNP gnomAD v4 |
7 | g.21864667G= | CA1693722782 | DNAH11 | c.11496+10G= (n.11496+10G=) c.11517+10G= (n.11517+10G=) | |
7 | g.21864668A>T | CA2549044488 | DNAH11 | c.11496+11A>T (n.11496+11A>T) c.11517+11A>T (n.11517+11A>T) | |
7 | g.21864669A>T | CA2774681720 | DNAH11 | c.11496+12A>T (n.11496+12A>T) c.11517+12A>T (n.11517+12A>T) | |
7 | g.21864669_21864678del | CA2578843797 | DNAH11 | c.11496+12_11496+21del (n.11496+12_11496+21del) c.11517+12_11517+21del (n.11517+12_11517+21del) | |
7 | g.21864670T>A | CA4182760 | DNAH11 | c.11496+13T>A (n.11496+13T>A) c.11517+13T>A (n.11517+13T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864670T>C | CA155138170 | DNAH11 | c.11496+13T>C (n.11496+13T>C) c.11517+13T>C (n.11517+13T>C) | dbSNP |
7 | g.21864670T= | CA1693722789 | DNAH11 | c.11496+13T= (n.11496+13T=) c.11517+13T= (n.11517+13T=) | |
7 | g.21864672_21864673del | CA2681991242 | DNAH11 | c.11496+15_11496+16del (n.11496+15_11496+16del) c.11517+15_11517+16del (n.11517+15_11517+16del) | ClinVar gnomAD v4 |
7 | g.21864672C>A | CA2681991243 | DNAH11 | c.11496+15C>A (n.11496+15C>A) c.11517+15C>A (n.11517+15C>A) | gnomAD v4 |
7 | g.21864672C= | CA1693722794 | DNAH11 | c.11496+15C= (n.11496+15C=) c.11517+15C= (n.11517+15C=) | |
7 | g.21864672C>G | CA1693722797 | DNAH11 | c.11496+15C>G (n.11496+15C>G) c.11517+15C>G (n.11517+15C>G) | dbSNP |
7 | g.21864672C>T | CA4182761 | DNAH11 | c.11496+15C>T (n.11496+15C>T) c.11517+15C>T (n.11517+15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21864673A= | CA1693722801 | DNAH11 | c.11496+16A= (n.11496+16A=) c.11517+16A= (n.11517+16A=) | |
7 | g.21864673A>C | CA2681991244 | DNAH11 | c.11496+16A>C (n.11496+16A>C) c.11517+16A>C (n.11517+16A>C) | gnomAD v4 |
7 | g.21864673A>G | CA1099233067 | DNAH11 | c.11496+16A>G (n.11496+16A>G) c.11517+16A>G (n.11517+16A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21864674G>A | CA836666239 | DNAH11 | c.11496+17G>A (n.11496+17G>A) c.11517+17G>A (n.11517+17G>A) | dbSNP gnomAD v4 |
7 | g.21864674G= | CA1693722803 | DNAH11 | c.11496+17G= (n.11496+17G=) c.11517+17G= (n.11517+17G=) |