| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.38842668G>A | CA3789180 | DNAH8 | c.4610G>A (p.Arg1537His) c.3959G>A (p.Arg1320His) c.4547G>A (p.Arg1516His) c.4373G>A (p.Arg1458His) n.4727G>A n.4731G>A n.4730G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 6 | g.38842668G>C | CA364003360 | DNAH8 | c.4610G>C (p.Arg1537Pro) c.3959G>C (p.Arg1320Pro) c.4547G>C (p.Arg1516Pro) c.4373G>C (p.Arg1458Pro) n.4727G>C n.4731G>C n.4730G>C | |
| 6 | g.38842668G= | CA1622424060 | DNAH8 | c.4610G= (p.Arg1537=) c.3959G= (p.Arg1320=) c.4547G= (p.Arg1516=) c.4373G= (p.Arg1458=) n.4727G= n.4731G= n.4730G= | |
| 6 | g.38842668G>T | CA3789181 | DNAH8 | c.4610G>T (p.Arg1537Leu) c.3959G>T (p.Arg1320Leu) c.4547G>T (p.Arg1516Leu) c.4373G>T (p.Arg1458Leu) n.4727G>T n.4731G>T n.4730G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.38842669T>A | CA450134069 | DNAH8 | c.4611T>A (p.Arg1537=) c.3960T>A (p.Arg1320=) c.4548T>A (p.Arg1516=) c.4374T>A (p.Arg1458=) n.4728T>A n.4732T>A n.4731T>A | |
| 6 | g.38842669T>C | CA450134070 | DNAH8 | c.4611T>C (p.Arg1537=) c.3960T>C (p.Arg1320=) c.4548T>C (p.Arg1516=) c.4374T>C (p.Arg1458=) n.4728T>C n.4732T>C n.4731T>C | |
| 6 | g.38842669T>G | CA450134071 | DNAH8 | c.4611T>G (p.Arg1537=) c.3960T>G (p.Arg1320=) c.4548T>G (p.Arg1516=) c.4374T>G (p.Arg1458=) n.4728T>G n.4732T>G n.4731T>G | |
| 6 | g.38842670A>C | CA364003371 | DNAH8 | c.4612A>C (p.Lys1538Gln) c.3961A>C (p.Lys1321Gln) c.4549A>C (p.Lys1517Gln) c.4375A>C (p.Lys1459Gln) n.4729A>C n.4733A>C n.4732A>C | |
| 6 | g.38842670A>G | CA364003368 | DNAH8 | c.4612A>G (p.Lys1538Glu) c.3961A>G (p.Lys1321Glu) c.4549A>G (p.Lys1517Glu) c.4375A>G (p.Lys1459Glu) n.4729A>G n.4733A>G n.4732A>G | |
| 6 | g.38842670A>T | CA364003366 | DNAH8 | c.4612A>T (p.Lys1538Ter) c.3961A>T (p.Lys1321Ter) c.4549A>T (p.Lys1517Ter) c.4375A>T (p.Lys1459Ter) n.4729A>T n.4733A>T n.4732A>T | |
| 6 | g.38842671A>C | CA364003375 | DNAH8 | c.4613A>C (p.Lys1538Thr) c.3962A>C (p.Lys1321Thr) c.4550A>C (p.Lys1517Thr) c.4376A>C (p.Lys1459Thr) n.4730A>C n.4734A>C n.4733A>C | gnomAD v4 |
| 6 | g.38842671A>G | CA364003376 | DNAH8 | c.4613A>G (p.Lys1538Arg) c.3962A>G (p.Lys1321Arg) c.4550A>G (p.Lys1517Arg) c.4376A>G (p.Lys1459Arg) n.4730A>G n.4734A>G n.4733A>G | |
| 6 | g.38842671A>T | CA364003379 | DNAH8 | c.4613A>T (p.Lys1538Ile) c.3962A>T (p.Lys1321Ile) c.4550A>T (p.Lys1517Ile) c.4376A>T (p.Lys1459Ile) n.4730A>T n.4734A>T n.4733A>T | |
| 6 | g.38842672A>C | CA364003383 | DNAH8 | c.4614A>C (p.Lys1538Asn) c.3963A>C (p.Lys1321Asn) c.4551A>C (p.Lys1517Asn) c.4377A>C (p.Lys1459Asn) n.4731A>C n.4735A>C n.4734A>C | |
| 6 | g.38842672A>G | CA450134072 | DNAH8 | c.4614A>G (p.Lys1538=) c.3963A>G (p.Lys1321=) c.4551A>G (p.Lys1517=) c.4377A>G (p.Lys1459=) n.4731A>G n.4735A>G n.4734A>G | |
| 6 | g.38842672A>T | CA364003387 | DNAH8 | c.4614A>T (p.Lys1538Asn) c.3963A>T (p.Lys1321Asn) c.4551A>T (p.Lys1517Asn) c.4377A>T (p.Lys1459Asn) n.4731A>T n.4735A>T n.4734A>T | |
| 6 | g.38842673C>A | CA364003395 | DNAH8 | c.4615C>A (p.Leu1539Ile) c.3964C>A (p.Leu1322Ile) c.4552C>A (p.Leu1518Ile) c.4378C>A (p.Leu1460Ile) n.4732C>A n.4736C>A n.4735C>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.38842673C= | CA1622424067 | DNAH8 | c.4615C= (p.Leu1539=) c.3964C= (p.Leu1322=) c.4552C= (p.Leu1518=) c.4378C= (p.Leu1460=) n.4732C= n.4736C= n.4735C= | |
| 6 | g.38842673C>G | CA364003393 | DNAH8 | c.4615C>G (p.Leu1539Val) c.3964C>G (p.Leu1322Val) c.4552C>G (p.Leu1518Val) c.4378C>G (p.Leu1460Val) n.4732C>G n.4736C>G n.4735C>G | |
| 6 | g.38842673C>T | CA364003391 | DNAH8 | c.4615C>T (p.Leu1539Phe) c.3964C>T (p.Leu1322Phe) c.4552C>T (p.Leu1518Phe) c.4378C>T (p.Leu1460Phe) n.4732C>T n.4736C>T n.4735C>T | |
| 6 | g.38842674T>A | CA364003399 | DNAH8 | c.4616T>A (p.Leu1539His) c.3965T>A (p.Leu1322His) c.4553T>A (p.Leu1518His) c.4379T>A (p.Leu1460His) n.4733T>A n.4737T>A n.4736T>A | |
| 6 | g.38842674T>C | CA364003402 | DNAH8 | c.4616T>C (p.Leu1539Pro) c.3965T>C (p.Leu1322Pro) c.4553T>C (p.Leu1518Pro) c.4379T>C (p.Leu1460Pro) n.4733T>C n.4737T>C n.4736T>C | |
| 6 | g.38842674T>G | CA364003405 | DNAH8 | c.4616T>G (p.Leu1539Arg) c.3965T>G (p.Leu1322Arg) c.4553T>G (p.Leu1518Arg) c.4379T>G (p.Leu1460Arg) n.4733T>G n.4737T>G n.4736T>G | |
| 6 | g.38842675T>A | CA450134073 | DNAH8 | c.4617T>A (p.Leu1539=) c.3966T>A (p.Leu1322=) c.4554T>A (p.Leu1518=) c.4380T>A (p.Leu1460=) n.4734T>A n.4738T>A n.4737T>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.38842675T>C | CA450134074 | DNAH8 | c.4617T>C (p.Leu1539=) c.3966T>C (p.Leu1322=) c.4554T>C (p.Leu1518=) c.4380T>C (p.Leu1460=) n.4734T>C n.4738T>C n.4737T>C | |
| 6 | g.38842675T>G | CA450134075 | DNAH8 | c.4617T>G (p.Leu1539=) c.3966T>G (p.Leu1322=) c.4554T>G (p.Leu1518=) c.4380T>G (p.Leu1460=) n.4734T>G n.4738T>G n.4737T>G | COSMIC COSMIC |
| 6 | g.38842675T= | CA1622424071 | DNAH8 | c.4617T= (p.Leu1539=) c.3966T= (p.Leu1322=) c.4554T= (p.Leu1518=) c.4380T= (p.Leu1460=) n.4734T= n.4738T= n.4737T= | |
| 6 | g.38842676C>A | CA364003407 | DNAH8 | c.4618C>A (p.Pro1540Thr) c.3967C>A (p.Pro1323Thr) c.4555C>A (p.Pro1519Thr) c.4381C>A (p.Pro1461Thr) n.4735C>A n.4739C>A n.4738C>A | |
| 6 | g.38842676C= | CA1622424075 | DNAH8 | c.4618C= (p.Pro1540=) c.3967C= (p.Pro1323=) c.4555C= (p.Pro1519=) c.4381C= (p.Pro1461=) n.4735C= n.4739C= n.4738C= | |
| 6 | g.38842676C>G | CA364003409 | DNAH8 | c.4618C>G (p.Pro1540Ala) c.3967C>G (p.Pro1323Ala) c.4555C>G (p.Pro1519Ala) c.4381C>G (p.Pro1461Ala) n.4735C>G n.4739C>G n.4738C>G | |
| 6 | g.38842676C>T | CA364003411 | DNAH8 | c.4618C>T (p.Pro1540Ser) c.3967C>T (p.Pro1323Ser) c.4555C>T (p.Pro1519Ser) c.4381C>T (p.Pro1461Ser) n.4735C>T n.4739C>T n.4738C>T | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 6 | g.38842677C>A | CA364003413 | DNAH8 | c.4619C>A (p.Pro1540Gln) c.3968C>A (p.Pro1323Gln) c.4556C>A (p.Pro1519Gln) c.4382C>A (p.Pro1461Gln) n.4736C>A n.4740C>A n.4739C>A | |
| 6 | g.38842677C>G | CA364003417 | DNAH8 | c.4619C>G (p.Pro1540Arg) c.3968C>G (p.Pro1323Arg) c.4556C>G (p.Pro1519Arg) c.4382C>G (p.Pro1461Arg) n.4736C>G n.4740C>G n.4739C>G | |
| 6 | g.38842677C>T | CA364003415 | DNAH8 | c.4619C>T (p.Pro1540Leu) c.3968C>T (p.Pro1323Leu) c.4556C>T (p.Pro1519Leu) c.4382C>T (p.Pro1461Leu) n.4736C>T n.4740C>T n.4739C>T | |
| 6 | g.38842678A>C | CA450134076 | DNAH8 | c.4620A>C (p.Pro1540=) c.3969A>C (p.Pro1323=) c.4557A>C (p.Pro1519=) c.4383A>C (p.Pro1461=) n.4737A>C n.4741A>C n.4740A>C | |
| 6 | g.38842678A>G | CA450134077 | DNAH8 | c.4620A>G (p.Pro1540=) c.3969A>G (p.Pro1323=) c.4557A>G (p.Pro1519=) c.4383A>G (p.Pro1461=) n.4737A>G n.4741A>G n.4740A>G | gnomAD v4 |
| 6 | g.38842678A>T | CA450134078 | DNAH8 | c.4620A>T (p.Pro1540=) c.3969A>T (p.Pro1323=) c.4557A>T (p.Pro1519=) c.4383A>T (p.Pro1461=) n.4737A>T n.4741A>T n.4740A>T | |
| 6 | g.38842679A= | CA1622424081 | DNAH8 | c.4621A= (p.Lys1541=) c.3970A= (p.Lys1324=) c.4558A= (p.Lys1520=) c.4384A= (p.Lys1462=) n.4738A= n.4742A= n.4741A= | |
| 6 | g.38842679A>C | CA364003419 | DNAH8 | c.4621A>C (p.Lys1541Gln) c.3970A>C (p.Lys1324Gln) c.4558A>C (p.Lys1520Gln) c.4384A>C (p.Lys1462Gln) n.4738A>C n.4742A>C n.4741A>C | |
| 6 | g.38842679A>G | CA3789182 | DNAH8 | c.4621A>G (p.Lys1541Glu) c.3970A>G (p.Lys1324Glu) c.4558A>G (p.Lys1520Glu) c.4384A>G (p.Lys1462Glu) n.4738A>G n.4742A>G n.4741A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.38842679A>T | CA364003422 | DNAH8 | c.4621A>T (p.Lys1541Ter) c.3970A>T (p.Lys1324Ter) c.4558A>T (p.Lys1520Ter) c.4384A>T (p.Lys1462Ter) n.4738A>T n.4742A>T n.4741A>T | |
| 6 | g.38842680A>C | CA364003424 | DNAH8 | c.4622A>C (p.Lys1541Thr) c.3971A>C (p.Lys1324Thr) c.4559A>C (p.Lys1520Thr) c.4385A>C (p.Lys1462Thr) n.4739A>C n.4743A>C n.4742A>C | |
| 6 | g.38842680A>G | CA364003427 | DNAH8 | c.4622A>G (p.Lys1541Arg) c.3971A>G (p.Lys1324Arg) c.4559A>G (p.Lys1520Arg) c.4385A>G (p.Lys1462Arg) n.4739A>G n.4743A>G n.4742A>G | gnomAD v4 |
| 6 | g.38842680A>T | CA364003428 | DNAH8 | c.4622A>T (p.Lys1541Ile) c.3971A>T (p.Lys1324Ile) c.4559A>T (p.Lys1520Ile) c.4385A>T (p.Lys1462Ile) n.4739A>T n.4743A>T n.4742A>T | |
| 6 | g.38842681A>C | CA364003431 | DNAH8 | c.4623A>C (p.Lys1541Asn) c.3972A>C (p.Lys1324Asn) c.4560A>C (p.Lys1520Asn) c.4386A>C (p.Lys1462Asn) n.4740A>C n.4744A>C n.4743A>C | gnomAD v4 |
| 6 | g.38842681A>G | CA450134079 | DNAH8 | c.4623A>G (p.Lys1541=) c.3972A>G (p.Lys1324=) c.4560A>G (p.Lys1520=) c.4386A>G (p.Lys1462=) n.4740A>G n.4744A>G n.4743A>G | |
| 6 | g.38842681A>T | CA364003433 | DNAH8 | c.4623A>T (p.Lys1541Asn) c.3972A>T (p.Lys1324Asn) c.4560A>T (p.Lys1520Asn) c.4386A>T (p.Lys1462Asn) n.4740A>T n.4744A>T n.4743A>T | |
| 6 | g.38842682G>A | CA364003435 | DNAH8 | c.4624G>A (p.Gly1542Arg) c.3973G>A (p.Gly1325Arg) c.4561G>A (p.Gly1521Arg) c.4387G>A (p.Gly1463Arg) n.4741G>A n.4745G>A n.4744G>A | gnomAD v4 |
| 6 | g.38842682G>C | CA364003436 | DNAH8 | c.4624G>C (p.Gly1542Arg) c.3973G>C (p.Gly1325Arg) c.4561G>C (p.Gly1521Arg) c.4387G>C (p.Gly1463Arg) n.4741G>C n.4745G>C n.4744G>C | dbSNP |
| 6 | g.38842682G= | CA1622424084 | DNAH8 | c.4624G= (p.Gly1542=) c.3973G= (p.Gly1325=) c.4561G= (p.Gly1521=) c.4387G= (p.Gly1463=) n.4741G= n.4745G= n.4744G= |