Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21816556C>A | CA453966621 | DNAH11 | c.10422C>A (p.Pro3474=) c.10443C>A (p.Pro3481=) | |
7 | g.21816556C= | CA1693666321 | DNAH11 | c.10422C= (p.Pro3474=) c.10443C= (p.Pro3481=) | |
7 | g.21816556C>G | CA453966622 | DNAH11 | c.10422C>G (p.Pro3474=) c.10443C>G (p.Pro3481=) | |
7 | g.21816556C>T | CA155122148 | DNAH11 | c.10422C>T (p.Pro3474=) c.10443C>T (p.Pro3481=) | dbSNP gnomAD v4 |
7 | g.21816557A= | CA1693666323 | DNAH11 | c.10423A= (p.Ser3475=) c.10444A= (p.Ser3482=) | |
7 | g.21816557A>C | CA4182359 | DNAH11 | c.10423A>C (p.Ser3475Arg) c.10444A>C (p.Ser3482Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21816557A>G | CA366948432 | DNAH11 | c.10423A>G (p.Ser3475Gly) c.10444A>G (p.Ser3482Gly) | gnomAD v4 |
7 | g.21816557A>T | CA366948433 | DNAH11 | c.10423A>T (p.Ser3475Cys) c.10444A>T (p.Ser3482Cys) | |
7 | g.21816558G>A | CA366948442 | DNAH11 | c.10424G>A (p.Ser3475Asn) c.10445G>A (p.Ser3482Asn) | |
7 | g.21816558G>C | CA366948436 | DNAH11 | c.10424G>C (p.Ser3475Thr) c.10445G>C (p.Ser3482Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816558G= | CA1693666325 | DNAH11 | c.10424G= (p.Ser3475=) c.10445G= (p.Ser3482=) | |
7 | g.21816558G>T | CA366948439 | DNAH11 | c.10424G>T (p.Ser3475Ile) c.10445G>T (p.Ser3482Ile) | |
7 | g.21816559T>A | CA4182360 | DNAH11 | c.10425T>A (p.Ser3475Arg) c.10446T>A (p.Ser3482Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21816559T>C | CA453966623 | DNAH11 | c.10425T>C (p.Ser3475=) c.10446T>C (p.Ser3482=) | dbSNP |
7 | g.21816559T>G | CA366948445 | DNAH11 | c.10425T>G (p.Ser3475Arg) c.10446T>G (p.Ser3482Arg) | |
7 | g.21816559T= | CA1693666330 | DNAH11 | c.10425T= (p.Ser3475=) c.10446T= (p.Ser3482=) | |
7 | g.21816560G>A | CA366948449 | DNAH11 | c.10426G>A (p.Asp3476Asn) c.10447G>A (p.Asp3483Asn) | |
7 | g.21816560G>C | CA366948451 | DNAH11 | c.10426G>C (p.Asp3476His) c.10447G>C (p.Asp3483His) | |
7 | g.21816560G>T | CA366948453 | DNAH11 | c.10426G>T (p.Asp3476Tyr) c.10447G>T (p.Asp3483Tyr) | |
7 | g.21816561A= | CA1693666333 | DNAH11 | c.10427A= (p.Asp3476=) c.10448A= (p.Asp3483=) | |
7 | g.21816561A>C | CA366948456 | DNAH11 | c.10427A>C (p.Asp3476Ala) c.10448A>C (p.Asp3483Ala) | |
7 | g.21816561A>G | CA366948457 | DNAH11 | c.10427A>G (p.Asp3476Gly) c.10448A>G (p.Asp3483Gly) | |
7 | g.21816561A>T | CA4182361 | DNAH11 | c.10427A>T (p.Asp3476Val) c.10448A>T (p.Asp3483Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816562C>A | CA366948462 | DNAH11 | c.10428C>A (p.Asp3476Glu) c.10449C>A (p.Asp3483Glu) | |
7 | g.21816562C>G | CA366948465 | DNAH11 | c.10428C>G (p.Asp3476Glu) c.10449C>G (p.Asp3483Glu) | |
7 | g.21816562C>T | CA453966645 | DNAH11 | c.10428C>T (p.Asp3476=) c.10449C>T (p.Asp3483=) | |
7 | g.21816563A>C | CA453966646 | DNAH11 | c.10429A>C (p.Arg3477=) c.10450A>C (p.Arg3484=) | gnomAD v4 |
7 | g.21816563A>G | CA366948467 | DNAH11 | c.10429A>G (p.Arg3477Gly) c.10450A>G (p.Arg3484Gly) | |
7 | g.21816563A>T | CA366948470 | DNAH11 | c.10429A>T (p.Arg3477Ter) c.10450A>T (p.Arg3484Ter) | |
7 | g.21816564G>A | CA366948477 | DNAH11 | c.10430G>A (p.Arg3477Lys) c.10451G>A (p.Arg3484Lys) | |
7 | g.21816564G>C | CA366948476 | DNAH11 | c.10430G>C (p.Arg3477Thr) c.10451G>C (p.Arg3484Thr) | |
7 | g.21816564G>T | CA366948474 | DNAH11 | c.10430G>T (p.Arg3477Ile) c.10451G>T (p.Arg3484Ile) | |
7 | g.21816565A= | CA1693666339 | DNAH11 | c.10431A= (p.Arg3477=) c.10452A= (p.Arg3484=) | |
7 | g.21816565A>C | CA4182362 | DNAH11 | c.10431A>C (p.Arg3477Ser) c.10452A>C (p.Arg3484Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816565A>G | CA453966647 | DNAH11 | c.10431A>G (p.Arg3477=) c.10452A>G (p.Arg3484=) | dbSNP |
7 | g.21816565A>T | CA366948479 | DNAH11 | c.10431A>T (p.Arg3477Ser) c.10452A>T (p.Arg3484Ser) | |
7 | g.21816566A>C | CA366948481 | DNAH11 | c.10432A>C (p.Met3478Leu) c.10453A>C (p.Met3485Leu) | |
7 | g.21816566A>G | CA366948482 | DNAH11 | c.10432A>G (p.Met3478Val) c.10453A>G (p.Met3485Val) | gnomAD v4 |
7 | g.21816566A>T | CA366948483 | DNAH11 | c.10432A>T (p.Met3478Leu) c.10453A>T (p.Met3485Leu) | gnomAD v4 |
7 | g.21816567T>A | CA366948484 | DNAH11 | c.10433T>A (p.Met3478Lys) c.10454T>A (p.Met3485Lys) | |
7 | g.21816567T>C | CA366948486 | DNAH11 | c.10433T>C (p.Met3478Thr) c.10454T>C (p.Met3485Thr) | |
7 | g.21816567T>G | CA366948488 | DNAH11 | c.10433T>G (p.Met3478Arg) c.10454T>G (p.Met3485Arg) | |
7 | g.21816568G>A | CA366948489 | DNAH11 | c.10434G>A (p.Met3478Ile) c.10455G>A (p.Met3485Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816568G>C | CA366948491 | DNAH11 | c.10434G>C (p.Met3478Ile) c.10455G>C (p.Met3485Ile) | |
7 | g.21816568G= | CA1693666341 | DNAH11 | c.10434G= (p.Met3478=) c.10455G= (p.Met3485=) | |
7 | g.21816568G>T | CA366948494 | DNAH11 | c.10434G>T (p.Met3478Ile) c.10455G>T (p.Met3485Ile) | |
7 | g.21816569T>A | CA366948498 | DNAH11 | c.10435T>A (p.Ser3479Thr) c.10456T>A (p.Ser3486Thr) | |
7 | g.21816569T>C | CA155122159 | DNAH11 | c.10435T>C (p.Ser3479Pro) c.10456T>C (p.Ser3486Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816569T>G | CA366948505 | DNAH11 | c.10435T>G (p.Ser3479Ala) c.10456T>G (p.Ser3486Ala) | |
7 | g.21816569T= | CA1693666343 | DNAH11 | c.10435T= (p.Ser3479=) c.10456T= (p.Ser3486=) | |
7 | g.21816570C>A | CA366948511 | DNAH11 | c.10436C>A (p.Ser3479Tyr) c.10457C>A (p.Ser3486Tyr) | |
7 | g.21816570C>G | CA366948510 | DNAH11 | c.10436C>G (p.Ser3479Cys) c.10457C>G (p.Ser3486Cys) | gnomAD v4 |
7 | g.21816570C>T | CA366948508 | DNAH11 | c.10436C>T (p.Ser3479Phe) c.10457C>T (p.Ser3486Phe) | |
7 | g.21816571C>A | CA453966650 | DNAH11 | c.10437C>A (p.Ser3479=) c.10458C>A (p.Ser3486=) | |
7 | g.21816571C= | CA1693666345 | DNAH11 | c.10437C= (p.Ser3479=) c.10458C= (p.Ser3486=) | |
7 | g.21816571C>G | CA453966649 | DNAH11 | c.10437C>G (p.Ser3479=) c.10458C>G (p.Ser3486=) | |
7 | g.21816571C>T | CA453966648 | DNAH11 | c.10437C>T (p.Ser3479=) c.10458C>T (p.Ser3486=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816572A>C | CA366948517 | DNAH11 | c.10438A>C (p.Thr3480Pro) c.10459A>C (p.Thr3487Pro) | |
7 | g.21816572A>G | CA366948521 | DNAH11 | c.10438A>G (p.Thr3480Ala) c.10459A>G (p.Thr3487Ala) | |
7 | g.21816572A>T | CA366948523 | DNAH11 | c.10438A>T (p.Thr3480Ser) c.10459A>T (p.Thr3487Ser) | |
7 | g.21816573C>A | CA366948526 | DNAH11 | c.10439C>A (p.Thr3480Asn) c.10460C>A (p.Thr3487Asn) | gnomAD v4 |
7 | g.21816573C>G | CA366948528 | DNAH11 | c.10439C>G (p.Thr3480Ser) c.10460C>G (p.Thr3487Ser) | |
7 | g.21816573C>T | CA366948531 | DNAH11 | c.10439C>T (p.Thr3480Ile) c.10460C>T (p.Thr3487Ile) | gnomAD v4 |
7 | g.21816574C>A | CA453966651 | DNAH11 | c.10440C>A (p.Thr3480=) c.10461C>A (p.Thr3487=) | ClinVar gnomAD v4 |
7 | g.21816574C= | CA1693666349 | DNAH11 | c.10440C= (p.Thr3480=) c.10461C= (p.Thr3487=) | |
7 | g.21816574C>G | CA155122168 | DNAH11 | c.10440C>G (p.Thr3480=) c.10461C>G (p.Thr3487=) | ClinVar dbSNP gnomAD v4 |
7 | g.21816574C>T | CA4182363 | DNAH11 | c.10440C>T (p.Thr3480=) c.10461C>T (p.Thr3487=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816575G>A | CA175747 | DNAH11 | c.10441G>A (p.Glu3481Lys) c.10462G>A (p.Glu3488Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21816575G>C | CA366948538 | DNAH11 | c.10441G>C (p.Glu3481Gln) c.10462G>C (p.Glu3488Gln) | |
7 | g.21816575G= | CA1693666356 | DNAH11 | c.10441G= (p.Glu3481=) c.10462G= (p.Glu3488=) | |
7 | g.21816575G>T | CA366948540 | DNAH11 | c.10441G>T (p.Glu3481Ter) c.10462G>T (p.Glu3488Ter) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816576A>C | CA366948541 | DNAH11 | c.10442A>C (p.Glu3481Ala) c.10463A>C (p.Glu3488Ala) | |
7 | g.21816576A>G | CA366948543 | DNAH11 | c.10442A>G (p.Glu3481Gly) c.10463A>G (p.Glu3488Gly) | |
7 | g.21816576A>T | CA366948545 | DNAH11 | c.10442A>T (p.Glu3481Val) c.10463A>T (p.Glu3488Val) | |
7 | g.21816579del | CA645563171 | DNAH11 | c.10445del (p.Asn3482MetfsTer5) c.10466del (p.Asn3489MetfsTer5) | COSMIC COSMIC |
7 | g.21816577A>C | CA366948548 | DNAH11 | c.10443A>C (p.Glu3481Asp) c.10464A>C (p.Glu3488Asp) | |
7 | g.21816577A>G | CA453966652 | DNAH11 | c.10443A>G (p.Glu3481=) c.10464A>G (p.Glu3488=) | gnomAD v4 |
7 | g.21816577A>T | CA366948551 | DNAH11 | c.10443A>T (p.Glu3481Asp) c.10464A>T (p.Glu3488Asp) | |
7 | g.21816578A= | CA1693666365 | DNAH11 | c.10444A= (p.Asn3482=) c.10465A= (p.Asn3489=) | |
7 | g.21816578A>C | CA366948557 | DNAH11 | c.10444A>C (p.Asn3482His) c.10465A>C (p.Asn3489His) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21816578A>G | CA366948559 | DNAH11 | c.10444A>G (p.Asn3482Asp) c.10465A>G (p.Asn3489Asp) | |
7 | g.21816578A>T | CA366948554 | DNAH11 | c.10444A>T (p.Asn3482Tyr) c.10465A>T (p.Asn3489Tyr) | |
7 | g.21816579A>C | CA366948562 | DNAH11 | c.10445A>C (p.Asn3482Thr) c.10466A>C (p.Asn3489Thr) | |
7 | g.21816579A>G | CA366948566 | DNAH11 | c.10445A>G (p.Asn3482Ser) c.10466A>G (p.Asn3489Ser) | |
7 | g.21816579A>T | CA366948567 | DNAH11 | c.10445A>T (p.Asn3482Ile) c.10466A>T (p.Asn3489Ile) | gnomAD v4 |
7 | g.21816580T>A | CA366948569 | DNAH11 | c.10446T>A (p.Asn3482Lys) c.10467T>A (p.Asn3489Lys) | dbSNP |
7 | g.21816580T>C | CA453966653 | DNAH11 | c.10446T>C (p.Asn3482=) c.10467T>C (p.Asn3489=) | |
7 | g.21816580T>G | CA366948572 | DNAH11 | c.10446T>G (p.Asn3482Lys) c.10467T>G (p.Asn3489Lys) | |
7 | g.21816580T= | CA1693666366 | DNAH11 | c.10446T= (p.Asn3482=) c.10467T= (p.Asn3489=) | |
7 | g.21816581G>A | CA366948576 | DNAH11 | c.10447G>A (p.Ala3483Thr) c.10468G>A (p.Ala3490Thr) | |
7 | g.21816581G>C | CA366948579 | DNAH11 | c.10447G>C (p.Ala3483Pro) c.10468G>C (p.Ala3490Pro) | |
7 | g.21816581G>T | CA366948581 | DNAH11 | c.10447G>T (p.Ala3483Ser) c.10468G>T (p.Ala3490Ser) | |
7 | g.21816582C>A | CA366948584 | DNAH11 | c.10448C>A (p.Ala3483Asp) c.10469C>A (p.Ala3490Asp) | |
7 | g.21816582C>G | CA366948587 | DNAH11 | c.10448C>G (p.Ala3483Gly) c.10469C>G (p.Ala3490Gly) | |
7 | g.21816582C>T | CA366948589 | DNAH11 | c.10448C>T (p.Ala3483Val) c.10469C>T (p.Ala3490Val) | gnomAD v4 COSMIC COSMIC |
7 | g.21816583C>A | CA453966655 | DNAH11 | c.10449C>A (p.Ala3483=) c.10470C>A (p.Ala3490=) | gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21816583C= | CA1693666371 | DNAH11 | c.10449C= (p.Ala3483=) c.10470C= (p.Ala3490=) | |
7 | g.21816583C>G | CA453966654 | DNAH11 | c.10449C>G (p.Ala3483=) c.10470C>G (p.Ala3490=) | gnomAD v4 |
7 | g.21816583C>T | CA4182364 | DNAH11 | c.10449C>T (p.Ala3483=) c.10470C>T (p.Ala3490=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816584G>A | CA4182365 | DNAH11 | c.10450G>A (p.Ala3484Thr) c.10471G>A (p.Ala3491Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816584G>C | CA366948596 | DNAH11 | c.10450G>C (p.Ala3484Pro) c.10471G>C (p.Ala3491Pro) | |
7 | g.21816584G= | CA1693666376 | DNAH11 | c.10450G= (p.Ala3484=) c.10471G= (p.Ala3491=) | |
7 | g.21816584G>T | CA366948593 | DNAH11 | c.10450G>T (p.Ala3484Ser) c.10471G>T (p.Ala3491Ser) | |
7 | g.21816585C>A | CA366948597 | DNAH11 | c.10451C>A (p.Ala3484Asp) c.10472C>A (p.Ala3491Asp) | |
7 | g.21816585C>G | CA366948598 | DNAH11 | c.10451C>G (p.Ala3484Gly) c.10472C>G (p.Ala3491Gly) | |
7 | g.21816585C>T | CA366948599 | DNAH11 | c.10451C>T (p.Ala3484Val) c.10472C>T (p.Ala3491Val) | gnomAD v4 |
7 | g.21816586T>A | CA453966656 | DNAH11 | c.10452T>A (p.Ala3484=) c.10473T>A (p.Ala3491=) | |
7 | g.21816586T>C | CA453966657 | DNAH11 | c.10452T>C (p.Ala3484=) c.10473T>C (p.Ala3491=) | |
7 | g.21816586T>G | CA453966658 | DNAH11 | c.10452T>G (p.Ala3484=) c.10473T>G (p.Ala3491=) | |
7 | g.21816587A= | CA1693666378 | DNAH11 | c.10453A= (p.Ile3485=) c.10474A= (p.Ile3492=) | |
7 | g.21816587A>C | CA366948600 | DNAH11 | c.10453A>C (p.Ile3485Leu) c.10474A>C (p.Ile3492Leu) | |
7 | g.21816587A>G | CA366948602 | DNAH11 | c.10453A>G (p.Ile3485Val) c.10474A>G (p.Ile3492Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816587A>T | CA366948604 | DNAH11 | c.10453A>T (p.Ile3485Phe) c.10474A>T (p.Ile3492Phe) | |
7 | g.21816588T>A | CA366948606 | DNAH11 | c.10454T>A (p.Ile3485Asn) c.10475T>A (p.Ile3492Asn) | |
7 | g.21816588T>C | CA4182366 | DNAH11 | c.10454T>C (p.Ile3485Thr) c.10475T>C (p.Ile3492Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21816588T>G | CA366948608 | DNAH11 | c.10454T>G (p.Ile3485Ser) c.10475T>G (p.Ile3492Ser) | |
7 | g.21816588T= | CA1693666381 | DNAH11 | c.10454T= (p.Ile3485=) c.10475T= (p.Ile3492=) | |
7 | g.21816589C>A | CA453966659 | DNAH11 | c.10455C>A (p.Ile3485=) c.10476C>A (p.Ile3492=) | |
7 | g.21816589C= | CA1693666383 | DNAH11 | c.10455C= (p.Ile3485=) c.10476C= (p.Ile3492=) | |
7 | g.21816589C>G | CA366948613 | DNAH11 | c.10455C>G (p.Ile3485Met) c.10476C>G (p.Ile3492Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816589C>T | CA4182367 | DNAH11 | c.10455C>T (p.Ile3485=) c.10476C>T (p.Ile3492=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21816590C>A | CA366948616 | DNAH11 | c.10456C>A (p.Leu3486Ile) c.10477C>A (p.Leu3493Ile) | |
7 | g.21816590C= | CA1693666389 | DNAH11 | c.10456C= (p.Leu3486=) c.10477C= (p.Leu3493=) | |
7 | g.21816590C>G | CA366948622 | DNAH11 | c.10456C>G (p.Leu3486Val) c.10477C>G (p.Leu3493Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816590C>T | CA453966660 | DNAH11 | c.10456C>T (p.Leu3486=) c.10477C>T (p.Leu3493=) | ClinVar |
7 | g.21816591T>A | CA366948626 | DNAH11 | c.10457T>A (p.Leu3486Gln) c.10478T>A (p.Leu3493Gln) | |
7 | g.21816591T>C | CA155122186 | DNAH11 | c.10457T>C (p.Leu3486Pro) c.10478T>C (p.Leu3493Pro) | dbSNP |
7 | g.21816591T>G | CA366948629 | DNAH11 | c.10457T>G (p.Leu3486Arg) c.10478T>G (p.Leu3493Arg) | |
7 | g.21816591T= | CA1693666394 | DNAH11 | c.10457T= (p.Leu3486=) c.10478T= (p.Leu3493=) | |
7 | g.21816592A>C | CA453966661 | DNAH11 | c.10458A>C (p.Leu3486=) c.10479A>C (p.Leu3493=) | |
7 | g.21816592A>G | CA453966662 | DNAH11 | c.10458A>G (p.Leu3486=) c.10479A>G (p.Leu3493=) | ClinVar |
7 | g.21816592A>T | CA453966663 | DNAH11 | c.10458A>T (p.Leu3486=) c.10479A>T (p.Leu3493=) | |
7 | g.21816592_21816595del | CA2681989635 | DNAH11 | c.10458_10461del (p.His3488ValfsTer7) c.10479_10482del (p.His3495ValfsTer7) | gnomAD v4 |
7 | g.21816593A>C | CA366948633 | DNAH11 | c.10459A>C (p.Thr3487Pro) c.10480A>C (p.Thr3494Pro) | |
7 | g.21816593A>G | CA366948637 | DNAH11 | c.10459A>G (p.Thr3487Ala) c.10480A>G (p.Thr3494Ala) | |
7 | g.21816593A>T | CA366948640 | DNAH11 | c.10459A>T (p.Thr3487Ser) c.10480A>T (p.Thr3494Ser) | |
7 | g.21816594C>A | CA366948643 | DNAH11 | c.10460C>A (p.Thr3487Lys) c.10481C>A (p.Thr3494Lys) | |
7 | g.21816594C>G | CA366948645 | DNAH11 | c.10460C>G (p.Thr3487Arg) c.10481C>G (p.Thr3494Arg) | |
7 | g.21816594C>T | CA366948647 | DNAH11 | c.10460C>T (p.Thr3487Ile) c.10481C>T (p.Thr3494Ile) | |
7 | g.21816595A= | CA1693666398 | DNAH11 | c.10461A= (p.Thr3487=) c.10482A= (p.Thr3494=) | |
7 | g.21816595A>C | CA453966664 | DNAH11 | c.10461A>C (p.Thr3487=) c.10482A>C (p.Thr3494=) | |
7 | g.21816595A>G | CA453966665 | DNAH11 | c.10461A>G (p.Thr3487=) c.10482A>G (p.Thr3494=) | |
7 | g.21816595A>T | CA155122189 | DNAH11 | c.10461A>T (p.Thr3487=) c.10482A>T (p.Thr3494=) | dbSNP gnomAD v4 |
7 | g.21816596C>A | CA366948656 | DNAH11 | c.10462C>A (p.His3488Asn) c.10483C>A (p.His3495Asn) | |
7 | g.21816596C>G | CA366948650 | DNAH11 | c.10462C>G (p.His3488Asp) c.10483C>G (p.His3495Asp) | gnomAD v4 |
7 | g.21816596C>T | CA366948653 | DNAH11 | c.10462C>T (p.His3488Tyr) c.10483C>T (p.His3495Tyr) | |
7 | g.21816597A= | CA1693666400 | DNAH11 | c.10463A= (p.His3488=) c.10484A= (p.His3495=) | |
7 | g.21816597A>C | CA366948658 | DNAH11 | c.10463A>C (p.His3488Pro) c.10484A>C (p.His3495Pro) | |
7 | g.21816597A>G | CA4182368 | DNAH11 | c.10463A>G (p.His3488Arg) c.10484A>G (p.His3495Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816597A>T | CA366948662 | DNAH11 | c.10463A>T (p.His3488Leu) c.10484A>T (p.His3495Leu) | gnomAD v4 |
7 | g.21816598C>A | CA366948665 | DNAH11 | c.10464C>A (p.His3488Gln) c.10485C>A (p.His3495Gln) | |
7 | g.21816598C= | CA1693666405 | DNAH11 | c.10464C= (p.His3488=) c.10485C= (p.His3495=) | |
7 | g.21816598C>G | CA4182369 | DNAH11 | c.10464C>G (p.His3488Gln) c.10485C>G (p.His3495Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816598C>T | CA453966666 | DNAH11 | c.10464C>T (p.His3488=) c.10485C>T (p.His3495=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816599T>A | CA366948673 | DNAH11 | c.10465T>A (p.Cys3489Ser) c.10486T>A (p.Cys3496Ser) | |
7 | g.21816599T>C | CA366948669 | DNAH11 | c.10465T>C (p.Cys3489Arg) c.10486T>C (p.Cys3496Arg) | |
7 | g.21816599T>G | CA366948671 | DNAH11 | c.10465T>G (p.Cys3489Gly) c.10486T>G (p.Cys3496Gly) | |
7 | g.21816600G>A | CA4182370 | DNAH11 | c.10466G>A (p.Cys3489Tyr) c.10487G>A (p.Cys3496Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21816600G>C | CA366948676 | DNAH11 | c.10466G>C (p.Cys3489Ser) c.10487G>C (p.Cys3496Ser) | COSMIC COSMIC |
7 | g.21816600G= | CA1693666410 | DNAH11 | c.10466G= (p.Cys3489=) c.10487G= (p.Cys3496=) | |
7 | g.21816600G>T | CA366948679 | DNAH11 | c.10466G>T (p.Cys3489Phe) c.10487G>T (p.Cys3496Phe) | |
7 | g.21816601T>A | CA366948682 | DNAH11 | c.10467T>A (p.Cys3489Ter) c.10488T>A (p.Cys3496Ter) | |
7 | g.21816601T>C | CA453966667 | DNAH11 | c.10467T>C (p.Cys3489=) c.10488T>C (p.Cys3496=) | |
7 | g.21816601T>G | CA366948685 | DNAH11 | c.10467T>G (p.Cys3489Trp) c.10488T>G (p.Cys3496Trp) | |
7 | g.21816602G>A | CA366948688 | DNAH11 | c.10468G>A (p.Glu3490Lys) c.10489G>A (p.Glu3497Lys) | COSMIC COSMIC |
7 | g.21816602G>C | CA366948692 | DNAH11 | c.10468G>C (p.Glu3490Gln) c.10489G>C (p.Glu3497Gln) | |
7 | g.21816602G>T | CA366948694 | DNAH11 | c.10468G>T (p.Glu3490Ter) c.10489G>T (p.Glu3497Ter) | |
7 | g.21816603A>C | CA366948699 | DNAH11 | c.10469A>C (p.Glu3490Ala) c.10490A>C (p.Glu3497Ala) | |
7 | g.21816603A>G | CA366948705 | DNAH11 | c.10469A>G (p.Glu3490Gly) c.10490A>G (p.Glu3497Gly) | gnomAD v4 |
7 | g.21816603A>T | CA366948707 | DNAH11 | c.10469A>T (p.Glu3490Val) c.10490A>T (p.Glu3497Val) | |
7 | g.21816604G>A | CA453966668 | DNAH11 | c.10470G>A (p.Glu3490=) c.10491G>A (p.Glu3497=) | dbSNP gnomAD v4 |
7 | g.21816604G>C | CA366948709 | DNAH11 | c.10470G>C (p.Glu3490Asp) c.10491G>C (p.Glu3497Asp) | |
7 | g.21816604G= | CA1693666413 | DNAH11 | c.10470G= (p.Glu3490=) c.10491G= (p.Glu3497=) | |
7 | g.21816604G>T | CA366948712 | DNAH11 | c.10470G>T (p.Glu3490Asp) c.10491G>T (p.Glu3497Asp) | |
7 | g.21816605C>A | CA366948716 | DNAH11 | c.10471C>A (p.Arg3491Ser) c.10492C>A (p.Arg3498Ser) | |
7 | g.21816605C= | CA1693666417 | DNAH11 | c.10471C= (p.Arg3491=) c.10492C= (p.Arg3498=) | |
7 | g.21816605C>G | CA366948720 | DNAH11 | c.10471C>G (p.Arg3491Gly) c.10492C>G (p.Arg3498Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816605C>T | CA366948718 | DNAH11 | c.10471C>T (p.Arg3491Cys) c.10492C>T (p.Arg3498Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21816606G>A | CA246938 | DNAH11 | c.10472G>A (p.Arg3491His) c.10493G>A (p.Arg3498His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816606G>C | CA366948724 | DNAH11 | c.10472G>C (p.Arg3491Pro) c.10493G>C (p.Arg3498Pro) | dbSNP |
7 | g.21816606G= | CA1693666423 | DNAH11 | c.10472G= (p.Arg3491=) c.10493G= (p.Arg3498=) | |
7 | g.21816606G>T | CA366948727 | DNAH11 | c.10472G>T (p.Arg3491Leu) c.10493G>T (p.Arg3498Leu) | |
7 | g.21816607C>A | CA453966669 | DNAH11 | c.10473C>A (p.Arg3491=) c.10494C>A (p.Arg3498=) | gnomAD v4 |
7 | g.21816607C= | CA1693666427 | DNAH11 | c.10473C= (p.Arg3491=) c.10494C= (p.Arg3498=) | |
7 | g.21816607C>G | CA4182371 | DNAH11 | c.10473C>G (p.Arg3491=) c.10494C>G (p.Arg3498=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816607C>T | CA453966670 | DNAH11 | c.10473C>T (p.Arg3491=) c.10494C>T (p.Arg3498=) | ClinVar gnomAD v4 |
7 | g.21816608T>A | CA366948732 | DNAH11 | c.10474T>A (p.Trp3492Arg) c.10495T>A (p.Trp3499Arg) | |
7 | g.21816608T>C | CA366948734 | DNAH11 | c.10474T>C (p.Trp3492Arg) c.10495T>C (p.Trp3499Arg) | gnomAD v4 |
7 | g.21816608T>G | CA366948735 | DNAH11 | c.10474T>G (p.Trp3492Gly) c.10495T>G (p.Trp3499Gly) | |
7 | g.21816609G>A | CA366948738 | DNAH11 | c.10475G>A (p.Trp3492Ter) c.10496G>A (p.Trp3499Ter) | |
7 | g.21816609G>C | CA366948740 | DNAH11 | c.10475G>C (p.Trp3492Ser) c.10496G>C (p.Trp3499Ser) | |
7 | g.21816609G>T | CA366948743 | DNAH11 | c.10475G>T (p.Trp3492Leu) c.10496G>T (p.Trp3499Leu) | |
7 | g.21816609_21816610insAGA | CA2774680434 | DNAH11 | c.10475_10476insAGA (p.Trp3492Ter) c.10496_10497insAGA (p.Trp3499Ter) | |
7 | g.21816610G>A | CA366948747 | DNAH11 | c.10476G>A (p.Trp3492Ter) c.10497G>A (p.Trp3499Ter) | ClinVar gnomAD v4 |
7 | g.21816610G>C | CA366948749 | DNAH11 | c.10476G>C (p.Trp3492Cys) c.10497G>C (p.Trp3499Cys) | |
7 | g.21816610G>T | CA366948754 | DNAH11 | c.10476G>T (p.Trp3492Cys) c.10497G>T (p.Trp3499Cys) | |
7 | g.21816611C>A | CA366948760 | DNAH11 | c.10477C>A (p.Pro3493Thr) c.10498C>A (p.Pro3500Thr) | |
7 | g.21816611C= | CA1693666431 | DNAH11 | c.10477C= (p.Pro3493=) c.10498C= (p.Pro3500=) | |
7 | g.21816611C>G | CA366948757 | DNAH11 | c.10477C>G (p.Pro3493Ala) c.10498C>G (p.Pro3500Ala) | |
7 | g.21816611C>T | CA155122218 | DNAH11 | c.10477C>T (p.Pro3493Ser) c.10498C>T (p.Pro3500Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21816612C>A | CA366948763 | DNAH11 | c.10478C>A (p.Pro3493His) c.10499C>A (p.Pro3500His) | |
7 | g.21816612C= | CA1693666435 | DNAH11 | c.10478C= (p.Pro3493=) c.10499C= (p.Pro3500=) | |
7 | g.21816612C>G | CA366948766 | DNAH11 | c.10478C>G (p.Pro3493Arg) c.10499C>G (p.Pro3500Arg) | |
7 | g.21816612C>T | CA366948770 | DNAH11 | c.10478C>T (p.Pro3493Leu) c.10499C>T (p.Pro3500Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.21816613T>A | CA453966671 | DNAH11 | c.10479T>A (p.Pro3493=) c.10500T>A (p.Pro3500=) | |
7 | g.21816613T>C | CA453966672 | DNAH11 | c.10479T>C (p.Pro3493=) c.10500T>C (p.Pro3500=) | |
7 | g.21816613T>G | CA453966673 | DNAH11 | c.10479T>G (p.Pro3493=) c.10500T>G (p.Pro3500=) | ClinVar gnomAD v4 |
7 | g.21816614C>A | CA366948773 | DNAH11 | c.10480C>A (p.Leu3494Met) c.10501C>A (p.Leu3501Met) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21816614C= | CA1693666449 | DNAH11 | c.10480C= (p.Leu3494=) c.10501C= (p.Leu3501=) | |
7 | g.21816614C>G | CA366948775 | DNAH11 | c.10480C>G (p.Leu3494Val) c.10501C>G (p.Leu3501Val) | ClinVar dbSNP gnomAD v4 |
7 | g.21816614C>T | CA453966674 | DNAH11 | c.10480C>T (p.Leu3494=) c.10501C>T (p.Leu3501=) | |
7 | g.21816615T>A | CA366948777 | DNAH11 | c.10481T>A (p.Leu3494Gln) c.10502T>A (p.Leu3501Gln) | |
7 | g.21816615T>C | CA4182372 | DNAH11 | c.10481T>C (p.Leu3494Pro) c.10502T>C (p.Leu3501Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21816615T>G | CA366948779 | DNAH11 | c.10481T>G (p.Leu3494Arg) c.10502T>G (p.Leu3501Arg) | |
7 | g.21816615T= | CA1693666452 | DNAH11 | c.10481T= (p.Leu3494=) c.10502T= (p.Leu3501=) | |
7 | g.21816616G>A | CA453966675 | DNAH11 | c.10482G>A (p.Leu3494=) c.10503G>A (p.Leu3501=) | |
7 | g.21816616G>C | CA453966676 | DNAH11 | c.10482G>C (p.Leu3494=) c.10503G>C (p.Leu3501=) | gnomAD v4 |
7 | g.21816616G>T | CA453966677 | DNAH11 | c.10482G>T (p.Leu3494=) c.10503G>T (p.Leu3501=) | ClinVar gnomAD v4 |
7 | g.21816617G>A | CA155122224 | DNAH11 | c.10483G>A (p.Val3495Met) c.10504G>A (p.Val3502Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816617G>C | CA366948782 | DNAH11 | c.10483G>C (p.Val3495Leu) c.10504G>C (p.Val3502Leu) | |
7 | g.21816617G= | CA1693666457 | DNAH11 | c.10483G= (p.Val3495=) c.10504G= (p.Val3502=) | |
7 | g.21816617G>T | CA366948784 | DNAH11 | c.10483G>T (p.Val3495Leu) c.10504G>T (p.Val3502Leu) | |
7 | g.21816618T>A | CA366948791 | DNAH11 | c.10484T>A (p.Val3495Glu) c.10505T>A (p.Val3502Glu) | |
7 | g.21816618T>C | CA366948788 | DNAH11 | c.10484T>C (p.Val3495Ala) c.10505T>C (p.Val3502Ala) | |
7 | g.21816618T>G | CA366948790 | DNAH11 | c.10484T>G (p.Val3495Gly) c.10505T>G (p.Val3502Gly) | |
7 | g.21816619G>A | CA4182373 | DNAH11 | c.10485G>A (p.Val3495=) c.10506G>A (p.Val3502=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21816619G>C | CA453966678 | DNAH11 | c.10485G>C (p.Val3495=) c.10506G>C (p.Val3502=) | |
7 | g.21816619G= | CA1693666462 | DNAH11 | c.10485G= (p.Val3495=) c.10506G= (p.Val3502=) | |
7 | g.21816619G>T | CA453966679 | DNAH11 | c.10485G>T (p.Val3495=) c.10506G>T (p.Val3502=) | |
7 | g.21816620A>C | CA366948801 | DNAH11 | c.10486A>C (p.Ile3496Leu) c.10507A>C (p.Ile3503Leu) | |
7 | g.21816620A>G | CA366948796 | DNAH11 | c.10486A>G (p.Ile3496Val) c.10507A>G (p.Ile3503Val) | |
7 | g.21816620A>T | CA366948799 | DNAH11 | c.10486A>T (p.Ile3496Leu) c.10507A>T (p.Ile3503Leu) | |
7 | g.21816621T>A | CA366948804 | DNAH11 | c.10487T>A (p.Ile3496Lys) c.10508T>A (p.Ile3503Lys) | |
7 | g.21816621T>C | CA366948806 | DNAH11 | c.10487T>C (p.Ile3496Thr) c.10508T>C (p.Ile3503Thr) | |
7 | g.21816621T>G | CA366948811 | DNAH11 | c.10487T>G (p.Ile3496Arg) c.10508T>G (p.Ile3503Arg) | |
7 | g.21816622A>C | CA453966680 | DNAH11 | c.10488A>C (p.Ile3496=) c.10509A>C (p.Ile3503=) | |
7 | g.21816622A>G | CA366948813 | DNAH11 | c.10488A>G (p.Ile3496Met) c.10509A>G (p.Ile3503Met) | gnomAD v4 |
7 | g.21816622A>T | CA453966681 | DNAH11 | c.10488A>T (p.Ile3496=) c.10509A>T (p.Ile3503=) | |
7 | g.21816623G>A | CA366948816 | DNAH11 | c.10489G>A (p.Asp3497Asn) c.10510G>A (p.Asp3504Asn) | dbSNP |
7 | g.21816623G>C | CA366948819 | DNAH11 | c.10489G>C (p.Asp3497His) c.10510G>C (p.Asp3504His) | |
7 | g.21816623G= | CA1693666466 | DNAH11 | c.10489G= (p.Asp3497=) c.10510G= (p.Asp3504=) | |
7 | g.21816623G>T | CA366948821 | DNAH11 | c.10489G>T (p.Asp3497Tyr) c.10510G>T (p.Asp3504Tyr) | |
7 | g.21816624A= | CA1693666470 | DNAH11 | c.10490A= (p.Asp3497=) c.10511A= (p.Asp3504=) | |
7 | g.21816624A>C | CA366948823 | DNAH11 | c.10490A>C (p.Asp3497Ala) c.10511A>C (p.Asp3504Ala) | dbSNP |
7 | g.21816624A>G | CA366948826 | DNAH11 | c.10490A>G (p.Asp3497Gly) c.10511A>G (p.Asp3504Gly) | |
7 | g.21816624A>T | CA366948828 | DNAH11 | c.10490A>T (p.Asp3497Val) c.10511A>T (p.Asp3504Val) | |
7 | g.21816625T>A | CA366948836 | DNAH11 | c.10491T>A (p.Asp3497Glu) c.10512T>A (p.Asp3504Glu) | gnomAD v4 |
7 | g.21816625T>C | CA453966682 | DNAH11 | c.10491T>C (p.Asp3497=) c.10512T>C (p.Asp3504=) | |
7 | g.21816625T>G | CA366948832 | DNAH11 | c.10491T>G (p.Asp3497Glu) c.10512T>G (p.Asp3504Glu) | |
7 | g.21816626C>A | CA366948839 | DNAH11 | c.10492C>A (p.Pro3498Thr) c.10513C>A (p.Pro3505Thr) | |
7 | g.21816626C= | CA1693666474 | DNAH11 | c.10492C= (p.Pro3498=) c.10513C= (p.Pro3505=) | |
7 | g.21816626C>G | CA366948840 | DNAH11 | c.10492C>G (p.Pro3498Ala) c.10513C>G (p.Pro3505Ala) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21816626C>T | CA366948842 | DNAH11 | c.10492C>T (p.Pro3498Ser) c.10513C>T (p.Pro3505Ser) | gnomAD v4 COSMIC COSMIC |
7 | g.21816627C>A | CA366948844 | DNAH11 | c.10493C>A (p.Pro3498His) c.10514C>A (p.Pro3505His) | |
7 | g.21816627C= | CA1693666480 | DNAH11 | c.10493C= (p.Pro3498=) c.10514C= (p.Pro3505=) | |
7 | g.21816627C>G | CA366948847 | DNAH11 | c.10493C>G (p.Pro3498Arg) c.10514C>G (p.Pro3505Arg) | |
7 | g.21816627C>T | CA366948850 | DNAH11 | c.10493C>T (p.Pro3498Leu) c.10514C>T (p.Pro3505Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21816628C>A | CA453966687 | DNAH11 | c.10494C>A (p.Pro3498=) c.10515C>A (p.Pro3505=) | COSMIC COSMIC |
7 | g.21816628C= | CA1693666487 | DNAH11 | c.10494C= (p.Pro3498=) c.10515C= (p.Pro3505=) | |
7 | g.21816628C>G | CA453966686 | DNAH11 | c.10494C>G (p.Pro3498=) c.10515C>G (p.Pro3505=) | |
7 | g.21816628C>T | CA4182374 | DNAH11 | c.10494C>T (p.Pro3498=) c.10515C>T (p.Pro3505=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21816629C>A | CA366948855 | DNAH11 | c.10495C>A (p.Gln3499Lys) c.10516C>A (p.Gln3506Lys) | |
7 | g.21816629C= | CA1693666489 | DNAH11 | c.10495C= (p.Gln3499=) c.10516C= (p.Gln3506=) | |
7 | g.21816629C>G | CA366948858 | DNAH11 | c.10495C>G (p.Gln3499Glu) c.10516C>G (p.Gln3506Glu) | |
7 | g.21816629C>T | CA155122227 | DNAH11 | c.10495C>T (p.Gln3499Ter) c.10516C>T (p.Gln3506Ter) | dbSNP |
7 | g.21816630A= | CA1693666492 | DNAH11 | c.10496A= (p.Gln3499=) c.10517A= (p.Gln3506=) | |
7 | g.21816630A>C | CA366948860 | DNAH11 | c.10496A>C (p.Gln3499Pro) c.10517A>C (p.Gln3506Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816630A>G | CA366948862 | DNAH11 | c.10496A>G (p.Gln3499Arg) c.10517A>G (p.Gln3506Arg) | |
7 | g.21816630A>T | CA366948864 | DNAH11 | c.10496A>T (p.Gln3499Leu) c.10517A>T (p.Gln3506Leu) | |
7 | g.21816631G>A | CA4182375 | DNAH11 | c.10497G>A (p.Gln3499=) c.10518G>A (p.Gln3506=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816631G>C | CA366948868 | DNAH11 | c.10497G>C (p.Gln3499His) c.10518G>C (p.Gln3506His) | |
7 | g.21816631G= | CA1693666495 | DNAH11 | c.10497G= (p.Gln3499=) c.10518G= (p.Gln3506=) | |
7 | g.21816631G>T | CA366948866 | DNAH11 | c.10497G>T (p.Gln3499His) c.10518G>T (p.Gln3506His) | |
7 | g.21816632C>A | CA366948875 | DNAH11 | c.10498C>A (p.Gln3500Lys) c.10519C>A (p.Gln3507Lys) | |
7 | g.21816632C>G | CA366948871 | DNAH11 | c.10498C>G (p.Gln3500Glu) c.10519C>G (p.Gln3507Glu) | |
7 | g.21816632C>T | CA366948873 | DNAH11 | c.10498C>T (p.Gln3500Ter) c.10519C>T (p.Gln3507Ter) | |
7 | g.21816633A>C | CA366948877 | DNAH11 | c.10499A>C (p.Gln3500Pro) c.10520A>C (p.Gln3507Pro) | |
7 | g.21816633A>G | CA366948879 | DNAH11 | c.10499A>G (p.Gln3500Arg) c.10520A>G (p.Gln3507Arg) | |
7 | g.21816633A>T | CA366948881 | DNAH11 | c.10499A>T (p.Gln3500Leu) c.10520A>T (p.Gln3507Leu) | gnomAD v4 |
7 | g.21816634A= | CA1693666498 | DNAH11 | c.10500A= (p.Gln3500=) c.10521A= (p.Gln3507=) | |
7 | g.21816634A>C | CA366948883 | DNAH11 | c.10500A>C (p.Gln3500His) c.10521A>C (p.Gln3507His) | |
7 | g.21816634A>G | CA453966689 | DNAH11 | c.10500A>G (p.Gln3500=) c.10521A>G (p.Gln3507=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816634A>T | CA366948885 | DNAH11 | c.10500A>T (p.Gln3500His) c.10521A>T (p.Gln3507His) | |
7 | g.21816635C>A | CA366948886 | DNAH11 | c.10501C>A (p.Gln3501Lys) c.10522C>A (p.Gln3508Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816635C= | CA1693666502 | DNAH11 | c.10501C= (p.Gln3501=) c.10522C= (p.Gln3508=) | |
7 | g.21816635C>G | CA366948887 | DNAH11 | c.10501C>G (p.Gln3501Glu) c.10522C>G (p.Gln3508Glu) | |
7 | g.21816635C>T | CA366948888 | DNAH11 | c.10501C>T (p.Gln3501Ter) c.10522C>T (p.Gln3508Ter) | gnomAD v4 |
7 | g.21816636A= | CA1693666504 | DNAH11 | c.10502A= (p.Gln3501=) c.10523A= (p.Gln3508=) | |
7 | g.21816636A>C | CA366948889 | DNAH11 | c.10502A>C (p.Gln3501Pro) c.10523A>C (p.Gln3508Pro) | |
7 | g.21816636A>G | CA366948890 | DNAH11 | c.10502A>G (p.Gln3501Arg) c.10523A>G (p.Gln3508Arg) | |
7 | g.21816636A>T | CA4182376 | DNAH11 | c.10502A>T (p.Gln3501Leu) c.10523A>T (p.Gln3508Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816637G>A | CA453966691 | DNAH11 | c.10503G>A (p.Gln3501=) c.10524G>A (p.Gln3508=) | gnomAD v4 |
7 | g.21816637G>C | CA366948892 | DNAH11 | c.10503G>C (p.Gln3501His) c.10524G>C (p.Gln3508His) | |
7 | g.21816637G>T | CA366948891 | DNAH11 | c.10503G>T (p.Gln3501His) c.10524G>T (p.Gln3508His) | |
7 | g.21816638G>A | CA366948893 | DNAH11 | c.10504G>A (p.Gly3502Arg) c.10525G>A (p.Gly3509Arg) | |
7 | g.21816638G>C | CA366948894 | DNAH11 | c.10504G>C (p.Gly3502Arg) c.10525G>C (p.Gly3509Arg) | |
7 | g.21816638G>T | CA366948895 | DNAH11 | c.10504G>T (p.Gly3502Ter) c.10525G>T (p.Gly3509Ter) | |
7 | g.21816639G>A | CA366948896 | DNAH11 | c.10505G>A (p.Gly3502Glu) c.10526G>A (p.Gly3509Glu) | |
7 | g.21816639G>C | CA366948897 | DNAH11 | c.10505G>C (p.Gly3502Ala) c.10526G>C (p.Gly3509Ala) | |
7 | g.21816639G>T | CA366948898 | DNAH11 | c.10505G>T (p.Gly3502Val) c.10526G>T (p.Gly3509Val) | |
7 | g.21816640A= | CA1693666508 | DNAH11 | c.10506A= (p.Gly3502=) c.10527A= (p.Gly3509=) | |
7 | g.21816640A>C | CA453966692 | DNAH11 | c.10506A>C (p.Gly3502=) c.10527A>C (p.Gly3509=) | |
7 | g.21816640A>G | CA4182377 | DNAH11 | c.10506A>G (p.Gly3502=) c.10527A>G (p.Gly3509=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21816640A>T | CA453966693 | DNAH11 | c.10506A>T (p.Gly3502=) c.10527A>T (p.Gly3509=) | |
7 | g.21816641A>C | CA366948901 | DNAH11 | c.10507A>C (p.Ile3503Leu) c.10528A>C (p.Ile3510Leu) | |
7 | g.21816641A>G | CA366948903 | DNAH11 | c.10507A>G (p.Ile3503Val) c.10528A>G (p.Ile3510Val) | gnomAD v4 |
7 | g.21816641A>T | CA366948906 | DNAH11 | c.10507A>T (p.Ile3503Phe) c.10528A>T (p.Ile3510Phe) | |
7 | g.21816642T>A | CA366948907 | DNAH11 | c.10508T>A (p.Ile3503Asn) c.10529T>A (p.Ile3510Asn) | |
7 | g.21816642T>C | CA366948908 | DNAH11 | c.10508T>C (p.Ile3503Thr) c.10529T>C (p.Ile3510Thr) | |
7 | g.21816642T>G | CA366948910 | DNAH11 | c.10508T>G (p.Ile3503Ser) c.10529T>G (p.Ile3510Ser) | |
7 | g.21816643T>A | CA453966696 | DNAH11 | c.10509T>A (p.Ile3503=) c.10530T>A (p.Ile3510=) | |
7 | g.21816643T>C | CA453966697 | DNAH11 | c.10509T>C (p.Ile3503=) c.10530T>C (p.Ile3510=) | |
7 | g.21816643T>G | CA4182378 | DNAH11 | c.10509T>G (p.Ile3503Met) c.10530T>G (p.Ile3510Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21816643T= | CA1693666511 | DNAH11 | c.10509T= (p.Ile3503=) c.10530T= (p.Ile3510=) | |
7 | g.21816644A>C | CA366948924 | DNAH11 | c.10510A>C (p.Lys3504Gln) c.10531A>C (p.Lys3511Gln) | |
7 | g.21816644A>G | CA366948921 | DNAH11 | c.10510A>G (p.Lys3504Glu) c.10531A>G (p.Lys3511Glu) | |
7 | g.21816644A>T | CA366948918 | DNAH11 | c.10510A>T (p.Lys3504Ter) c.10531A>T (p.Lys3511Ter) | |
7 | g.21816645A= | CA1693666513 | DNAH11 | c.10511A= (p.Lys3504=) c.10532A= (p.Lys3511=) | |
7 | g.21816645A>C | CA4182379 | DNAH11 | c.10511A>C (p.Lys3504Thr) c.10532A>C (p.Lys3511Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816645A>G | CA366948936 | DNAH11 | c.10511A>G (p.Lys3504Arg) c.10532A>G (p.Lys3511Arg) | COSMIC |
7 | g.21816645A>T | CA366948938 | DNAH11 | c.10511A>T (p.Lys3504Met) c.10532A>T (p.Lys3511Met) | |
7 | g.21816646G>A | CA453966699 | DNAH11 | c.10512G>A (p.Lys3504=) c.10533G>A (p.Lys3511=) | |
7 | g.21816646G>C | CA366948941 | DNAH11 | c.10512G>C (p.Lys3504Asn) c.10533G>C (p.Lys3511Asn) | gnomAD v4 |
7 | g.21816646G= | CA1693666515 | DNAH11 | c.10512G= (p.Lys3504=) c.10533G= (p.Lys3511=) | |
7 | g.21816646G>T | CA155122239 | DNAH11 | c.10512G>T (p.Lys3504Asn) c.10533G>T (p.Lys3511Asn) | dbSNP gnomAD v4 |
7 | g.21816646dup | CA2697557164 | DNAH11 | c.10512dup (p.Trp3505ValfsTer5) c.10533dup (p.Trp3512ValfsTer5) | ClinVar |
7 | g.21816647T>A | CA366948951 | DNAH11 | c.10513T>A (p.Trp3505Arg) c.10534T>A (p.Trp3512Arg) | |
7 | g.21816647T>C | CA366948949 | DNAH11 | c.10513T>C (p.Trp3505Arg) c.10534T>C (p.Trp3512Arg) | |
7 | g.21816647T>G | CA366948947 | DNAH11 | c.10513T>G (p.Trp3505Gly) c.10534T>G (p.Trp3512Gly) | ClinVar dbSNP |
7 | g.21816648G>A | CA366948954 | DNAH11 | c.10514G>A (p.Trp3505Ter) c.10535G>A (p.Trp3512Ter) | dbSNP gnomAD v3 |
7 | g.21816648G>C | CA366948957 | DNAH11 | c.10514G>C (p.Trp3505Ser) c.10535G>C (p.Trp3512Ser) | |
7 | g.21816648G>T | CA366948960 | DNAH11 | c.10514G>T (p.Trp3505Leu) c.10535G>T (p.Trp3512Leu) | |
7 | g.21816649G>A | CA366948964 | DNAH11 | c.10515G>A (p.Trp3505Ter) c.10536G>A (p.Trp3512Ter) | |
7 | g.21816649G>C | CA366948967 | DNAH11 | c.10515G>C (p.Trp3505Cys) c.10536G>C (p.Trp3512Cys) | |
7 | g.21816649G= | CA1693666518 | DNAH11 | c.10515G= (p.Trp3505=) c.10536G= (p.Trp3512=) | |
7 | g.21816649G>T | CA4182380 | DNAH11 | c.10515G>T (p.Trp3505Cys) c.10536G>T (p.Trp3512Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816650A= | CA1693666522 | DNAH11 | c.10516A= (p.Ile3506=) c.10537A= (p.Ile3513=) | |
7 | g.21816650A>C | CA366948977 | DNAH11 | c.10516A>C (p.Ile3506Leu) c.10537A>C (p.Ile3513Leu) | |
7 | g.21816650A>G | CA155122243 | DNAH11 | c.10516A>G (p.Ile3506Val) c.10537A>G (p.Ile3513Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21816650A>T | CA366948974 | DNAH11 | c.10516A>T (p.Ile3506Phe) c.10537A>T (p.Ile3513Phe) | gnomAD v4 |
7 | g.21816651T>A | CA366948980 | DNAH11 | c.10517T>A (p.Ile3506Asn) c.10538T>A (p.Ile3513Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816651T>C | CA366948983 | DNAH11 | c.10517T>C (p.Ile3506Thr) c.10538T>C (p.Ile3513Thr) | |
7 | g.21816651T>G | CA366948987 | DNAH11 | c.10517T>G (p.Ile3506Ser) c.10538T>G (p.Ile3513Ser) | |
7 | g.21816651T= | CA1693666524 | DNAH11 | c.10517T= (p.Ile3506=) c.10538T= (p.Ile3513=) | |
7 | g.21816652C>A | CA453966704 | DNAH11 | c.10518C>A (p.Ile3506=) c.10539C>A (p.Ile3513=) | |
7 | g.21816652C>G | CA366948988 | DNAH11 | c.10518C>G (p.Ile3506Met) c.10539C>G (p.Ile3513Met) | |
7 | g.21816652C>T | CA453966703 | DNAH11 | c.10518C>T (p.Ile3506=) c.10539C>T (p.Ile3513=) | |
7 | g.21816653A= | CA1693666528 | DNAH11 | c.10519A= (p.Lys3507=) c.10540A= (p.Lys3514=) | |
7 | g.21816653A>C | CA366948993 | DNAH11 | c.10519A>C (p.Lys3507Gln) c.10540A>C (p.Lys3514Gln) | |
7 | g.21816653A>G | CA366948994 | DNAH11 | c.10519A>G (p.Lys3507Glu) c.10540A>G (p.Lys3514Glu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21816653A>T | CA366948997 | DNAH11 | c.10519A>T (p.Lys3507Ter) c.10540A>T (p.Lys3514Ter) | |
7 | g.21816654A>C | CA366948998 | DNAH11 | c.10520A>C (p.Lys3507Thr) c.10541A>C (p.Lys3514Thr) | |
7 | g.21816654A>G | CA366949001 | DNAH11 | c.10520A>G (p.Lys3507Arg) c.10541A>G (p.Lys3514Arg) | gnomAD v4 |
7 | g.21816654A>T | CA366949002 | DNAH11 | c.10520A>T (p.Lys3507Met) c.10541A>T (p.Lys3514Met) | |
7 | g.21816655G>A | CA453966705 | DNAH11 | c.10521G>A (p.Lys3507=) c.10542G>A (p.Lys3514=) | |
7 | g.21816655G>C | CA366949005 | DNAH11 | c.10521G>C (p.Lys3507Asn) c.10542G>C (p.Lys3514Asn) | gnomAD v4 |
7 | g.21816655G>T | CA366949008 | DNAH11 | c.10521G>T (p.Lys3507Asn) c.10542G>T (p.Lys3514Asn) | |
7 | g.21816656A>C | CA366949019 | DNAH11 | c.10522A>C (p.Asn3508His) c.10543A>C (p.Asn3515His) | |
7 | g.21816656A>G | CA366949012 | DNAH11 | c.10522A>G (p.Asn3508Asp) c.10543A>G (p.Asn3515Asp) | |
7 | g.21816656A>T | CA366949016 | DNAH11 | c.10522A>T (p.Asn3508Tyr) c.10543A>T (p.Asn3515Tyr) |