Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.38842672A>CCA364003383DNAH8c.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
6g.38842672A>GCA450134072DNAH8c.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
6g.38842672A>TCA364003387DNAH8c.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
6g.38842673C>ACA364003395DNAH8c.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
6g.38842673C=CA1622424067DNAH8c.4615C= (p.Leu1539=)
c.3964C= (p.Leu1322=)
c.4552C= (p.Leu1518=)
c.4378C= (p.Leu1460=)
n.4732C=
n.4736C=
n.4735C=
6g.38842673C>GCA364003393DNAH8c.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
6g.38842673C>TCA364003391DNAH8c.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
6g.38842674T>ACA364003399DNAH8c.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
6g.38842674T>CCA364003402DNAH8c.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
6g.38842674T>GCA364003405DNAH8c.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
6g.38842675T>ACA450134073DNAH8c.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
6g.38842675T>CCA450134074DNAH8c.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
6g.38842675T>GCA450134075DNAH8c.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
6g.38842675T=CA1622424071DNAH8c.4617T= (p.Leu1539=)
c.3966T= (p.Leu1322=)
c.4554T= (p.Leu1518=)
c.4380T= (p.Leu1460=)
n.4734T=
n.4738T=
n.4737T=
6g.38842676C>ACA364003407DNAH8c.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
6g.38842676C=CA1622424075DNAH8c.4618C= (p.Pro1540=)
c.3967C= (p.Pro1323=)
c.4555C= (p.Pro1519=)
c.4381C= (p.Pro1461=)
n.4735C=
n.4739C=
n.4738C=
6g.38842676C>GCA364003409DNAH8c.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
6g.38842676C>TCA364003411DNAH8c.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
6g.38842677C>ACA364003413DNAH8c.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
6g.38842677C>GCA364003417DNAH8c.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
6g.38842677C>TCA364003415DNAH8c.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
6g.38842678A>CCA450134076DNAH8c.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
6g.38842678A>GCA450134077DNAH8c.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
6g.38842678A>TCA450134078DNAH8c.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
6g.38842679A=CA1622424081DNAH8c.4621A= (p.Lys1541=)
c.3970A= (p.Lys1324=)
c.4558A= (p.Lys1520=)
c.4384A= (p.Lys1462=)
n.4738A=
n.4742A=
n.4741A=
6g.38842679A>CCA364003419DNAH8c.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
6g.38842679A>GCA3789182DNAH8c.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
6g.38842679A>TCA364003422DNAH8c.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
6g.38842680A>CCA364003424DNAH8c.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
6g.38842680A>GCA364003427DNAH8c.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
6g.38842680A>TCA364003428DNAH8c.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
6g.38842681A>CCA364003431DNAH8c.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
6g.38842681A>GCA450134079DNAH8c.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
6g.38842681A>TCA364003433DNAH8c.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
6g.38842682G>ACA364003435DNAH8c.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
6g.38842682G>CCA364003436DNAH8c.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
6g.38842682G=CA1622424084DNAH8c.4624G= (p.Gly1542=)
c.3973G= (p.Gly1325=)
c.4561G= (p.Gly1521=)
c.4387G= (p.Gly1463=)
n.4741G=
n.4745G=
n.4744G=
6g.38842682G>TCA364003438DNAH8c.4624G>T (p.Gly1542Ter)
c.3973G>T (p.Gly1325Ter)
c.4561G>T (p.Gly1521Ter)
c.4387G>T (p.Gly1463Ter)
n.4741G>T
n.4745G>T
n.4744G>T
6g.38842683G>ACA3789183DNAH8c.4625G>A (p.Gly1542Glu)
c.3974G>A (p.Gly1325Glu)
c.4562G>A (p.Gly1521Glu)
c.4388G>A (p.Gly1463Glu)
n.4742G>A
n.4746G>A
n.4745G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.38842683G>CCA364003442DNAH8c.4625G>C (p.Gly1542Ala)
c.3974G>C (p.Gly1325Ala)
c.4562G>C (p.Gly1521Ala)
c.4388G>C (p.Gly1463Ala)
n.4742G>C
n.4746G>C
n.4745G>C
6g.38842683G=CA1622424087DNAH8c.4625G= (p.Gly1542=)
c.3974G= (p.Gly1325=)
c.4562G= (p.Gly1521=)
c.4388G= (p.Gly1463=)
n.4742G=
n.4746G=
n.4745G=
6g.38842683G>TCA3789184DNAH8c.4625G>T (p.Gly1542Val)
c.3974G>T (p.Gly1325Val)
c.4562G>T (p.Gly1521Val)
c.4388G>T (p.Gly1463Val)
n.4742G>T
n.4746G>T
n.4745G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.38842684A=CA1622424091DNAH8c.4626A= (p.Gly1542=)
c.3975A= (p.Gly1325=)
c.4563A= (p.Gly1521=)
c.4389A= (p.Gly1463=)
n.4743A=
n.4747A=
n.4746A=
6g.38842684A>CCA450134080DNAH8c.4626A>C (p.Gly1542=)
c.3975A>C (p.Gly1325=)
c.4563A>C (p.Gly1521=)
c.4389A>C (p.Gly1463=)
n.4743A>C
n.4747A>C
n.4746A>C
6g.38842684A>GCA3789185DNAH8c.4626A>G (p.Gly1542=)
c.3975A>G (p.Gly1325=)
c.4563A>G (p.Gly1521=)
c.4389A>G (p.Gly1463=)
n.4743A>G
n.4747A>G
n.4746A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.38842684A>TCA450134081DNAH8c.4626A>T (p.Gly1542=)
c.3975A>T (p.Gly1325=)
c.4563A>T (p.Gly1521=)
c.4389A>T (p.Gly1463=)
n.4743A>T
n.4747A>T
n.4746A>T
6g.38842685C>ACA364003448DNAH8c.4627C>A (p.Leu1543Ile)
c.3976C>A (p.Leu1326Ile)
c.4564C>A (p.Leu1522Ile)
c.4390C>A (p.Leu1464Ile)
n.4744C>A
n.4748C>A
n.4747C>A
 gnomAD v4
6g.38842685C>GCA364003446DNAH8c.4627C>G (p.Leu1543Val)
c.3976C>G (p.Leu1326Val)
c.4564C>G (p.Leu1522Val)
c.4390C>G (p.Leu1464Val)
n.4744C>G
n.4748C>G
n.4747C>G
 dbSNP
6g.38842685C>TCA364003449DNAH8c.4627C>T (p.Leu1543Phe)
c.3976C>T (p.Leu1326Phe)
c.4564C>T (p.Leu1522Phe)
c.4390C>T (p.Leu1464Phe)
n.4744C>T
n.4748C>T
n.4747C>T
6g.38842686T>ACA364003452DNAH8c.4628T>A (p.Leu1543His)
c.3977T>A (p.Leu1326His)
c.4565T>A (p.Leu1522His)
c.4391T>A (p.Leu1464His)
n.4745T>A
n.4749T>A
n.4748T>A
6g.38842686T>CCA364003453DNAH8c.4628T>C (p.Leu1543Pro)
c.3977T>C (p.Leu1326Pro)
c.4565T>C (p.Leu1522Pro)
c.4391T>C (p.Leu1464Pro)
n.4745T>C
n.4749T>C
n.4748T>C
6g.38842686T>GCA364003456DNAH8c.4628T>G (p.Leu1543Arg)
c.3977T>G (p.Leu1326Arg)
c.4565T>G (p.Leu1522Arg)
c.4391T>G (p.Leu1464Arg)
n.4745T>G
n.4749T>G
n.4748T>G
6g.38842687T>ACA450134084DNAH8c.4629T>A (p.Leu1543=)
c.3978T>A (p.Leu1326=)
c.4566T>A (p.Leu1522=)
c.4392T>A (p.Leu1464=)
n.4746T>A
n.4750T>A
n.4749T>A
6g.38842687T>CCA450134083DNAH8c.4629T>C (p.Leu1543=)
c.3978T>C (p.Leu1326=)
c.4566T>C (p.Leu1522=)
c.4392T>C (p.Leu1464=)
n.4746T>C
n.4750T>C
n.4749T>C
6g.38842687T>GCA450134082DNAH8c.4629T>G (p.Leu1543=)
c.3978T>G (p.Leu1326=)
c.4566T>G (p.Leu1522=)
c.4392T>G (p.Leu1464=)
n.4746T>G
n.4750T>G
n.4749T>G
6g.38842687_38842688dupCA2770720185DNAH8c.4629_4630dup (p.Lys1544IlefsTer26)
c.3978_3979dup (p.Lys1327IlefsTer26)
c.4566_4567dup (p.Lys1523IlefsTer26)
c.4392_4393dup (p.Lys1465IlefsTer26)
n.4746_4747dup
n.4750_4751dup
n.4749_4750dup
6g.38842688A=CA1622424094DNAH8c.4630A= (p.Lys1544=)
c.3979A= (p.Lys1327=)
c.4567A= (p.Lys1523=)
c.4393A= (p.Lys1465=)
n.4747A=
n.4751A=
n.4750A=
6g.38842688A>CCA364003458DNAH8c.4630A>C (p.Lys1544Gln)
c.3979A>C (p.Lys1327Gln)
c.4567A>C (p.Lys1523Gln)
c.4393A>C (p.Lys1465Gln)
n.4747A>C
n.4751A>C
n.4750A>C
 dbSNP gnomAD v3 gnomAD v4
6g.38842688A>GCA364003460DNAH8c.4630A>G (p.Lys1544Glu)
c.3979A>G (p.Lys1327Glu)
c.4567A>G (p.Lys1523Glu)
c.4393A>G (p.Lys1465Glu)
n.4747A>G
n.4751A>G
n.4750A>G
6g.38842688A>TCA364003462DNAH8c.4630A>T (p.Lys1544Ter)
c.3979A>T (p.Lys1327Ter)
c.4567A>T (p.Lys1523Ter)
c.4393A>T (p.Lys1465Ter)
n.4747A>T
n.4751A>T
n.4750A>T
6g.38842689A>CCA364003468DNAH8c.4631A>C (p.Lys1544Thr)
c.3980A>C (p.Lys1327Thr)
c.4568A>C (p.Lys1523Thr)
c.4394A>C (p.Lys1465Thr)
n.4748A>C
n.4752A>C
n.4751A>C
 gnomAD v4
6g.38842689A>GCA364003465DNAH8c.4631A>G (p.Lys1544Arg)
c.3980A>G (p.Lys1327Arg)
c.4568A>G (p.Lys1523Arg)
c.4394A>G (p.Lys1465Arg)
n.4748A>G
n.4752A>G
n.4751A>G
6g.38842689A>TCA364003467DNAH8c.4631A>T (p.Lys1544Ile)
c.3980A>T (p.Lys1327Ile)
c.4568A>T (p.Lys1523Ile)
c.4394A>T (p.Lys1465Ile)
n.4748A>T
n.4752A>T
n.4751A>T
6g.38842690A>CCA364003470DNAH8c.4632A>C (p.Lys1544Asn)
c.3981A>C (p.Lys1327Asn)
c.4569A>C (p.Lys1523Asn)
c.4395A>C (p.Lys1465Asn)
n.4749A>C
n.4753A>C
n.4752A>C
6g.38842690A>GCA450134085DNAH8c.4632A>G (p.Lys1544=)
c.3981A>G (p.Lys1327=)
c.4569A>G (p.Lys1523=)
c.4395A>G (p.Lys1465=)
n.4749A>G
n.4753A>G
n.4752A>G
6g.38842690A>TCA364003472DNAH8c.4632A>T (p.Lys1544Asn)
c.3981A>T (p.Lys1327Asn)
c.4569A>T (p.Lys1523Asn)
c.4395A>T (p.Lys1465Asn)
n.4749A>T
n.4753A>T
n.4752A>T
6g.38842691G>ACA364003474DNAH8c.4633G>A (p.Asp1545Asn)
c.3982G>A (p.Asp1328Asn)
c.4570G>A (p.Asp1524Asn)
c.4396G>A (p.Asp1466Asn)
n.4750G>A
n.4754G>A
n.4753G>A
6g.38842691G>CCA364003476DNAH8c.4633G>C (p.Asp1545His)
c.3982G>C (p.Asp1328His)
c.4570G>C (p.Asp1524His)
c.4396G>C (p.Asp1466His)
n.4750G>C
n.4754G>C
n.4753G>C
6g.38842691G>TCA364003478DNAH8c.4633G>T (p.Asp1545Tyr)
c.3982G>T (p.Asp1328Tyr)
c.4570G>T (p.Asp1524Tyr)
c.4396G>T (p.Asp1466Tyr)
n.4750G>T
n.4754G>T
n.4753G>T
6g.38842692A>CCA364003480DNAH8c.4634A>C (p.Asp1545Ala)
c.3983A>C (p.Asp1328Ala)
c.4571A>C (p.Asp1524Ala)
c.4397A>C (p.Asp1466Ala)
n.4751A>C
n.4755A>C
n.4754A>C
6g.38842692A>GCA364003484DNAH8c.4634A>G (p.Asp1545Gly)
c.3983A>G (p.Asp1328Gly)
c.4571A>G (p.Asp1524Gly)
c.4397A>G (p.Asp1466Gly)
n.4751A>G
n.4755A>G
n.4754A>G
6g.38842692A>TCA364003482DNAH8c.4634A>T (p.Asp1545Val)
c.3983A>T (p.Asp1328Val)
c.4571A>T (p.Asp1524Val)
c.4397A>T (p.Asp1466Val)
n.4751A>T
n.4755A>T
n.4754A>T
 ClinVar gnomAD v4
6g.38842693T>ACA364003486DNAH8c.4635T>A (p.Asp1545Glu)
c.3984T>A (p.Asp1328Glu)
c.4572T>A (p.Asp1524Glu)
c.4398T>A (p.Asp1466Glu)
n.4752T>A
n.4756T>A
n.4755T>A
6g.38842693T>CCA450134086DNAH8c.4635T>C (p.Asp1545=)
c.3984T>C (p.Asp1328=)
c.4572T>C (p.Asp1524=)
c.4398T>C (p.Asp1466=)
n.4752T>C
n.4756T>C
n.4755T>C
6g.38842693T>GCA364003488DNAH8c.4635T>G (p.Asp1545Glu)
c.3984T>G (p.Asp1328Glu)
c.4572T>G (p.Asp1524Glu)
c.4398T>G (p.Asp1466Glu)
n.4752T>G
n.4756T>G
n.4755T>G
6g.38842694T>ACA364003490DNAH8c.4636T>A (p.Trp1546Arg)
c.3985T>A (p.Trp1329Arg)
c.4573T>A (p.Trp1525Arg)
c.4399T>A (p.Trp1467Arg)
n.4753T>A
n.4757T>A
n.4756T>A
6g.38842694T>CCA364003492DNAH8c.4636T>C (p.Trp1546Arg)
c.3985T>C (p.Trp1329Arg)
c.4573T>C (p.Trp1525Arg)
c.4399T>C (p.Trp1467Arg)
n.4753T>C
n.4757T>C
n.4756T>C
6g.38842694T>GCA364003494DNAH8c.4636T>G (p.Trp1546Gly)
c.3985T>G (p.Trp1329Gly)
c.4573T>G (p.Trp1525Gly)
c.4399T>G (p.Trp1467Gly)
n.4753T>G
n.4757T>G
n.4756T>G
6g.38842695G>ACA137569354DNAH8c.4637G>A (p.Trp1546Ter)
c.3986G>A (p.Trp1329Ter)
c.4574G>A (p.Trp1525Ter)
c.4400G>A (p.Trp1467Ter)
n.4754G>A
n.4758G>A
n.4757G>A
 dbSNP gnomAD v4
6g.38842695G>CCA364003497DNAH8c.4637G>C (p.Trp1546Ser)
c.3986G>C (p.Trp1329Ser)
c.4574G>C (p.Trp1525Ser)
c.4400G>C (p.Trp1467Ser)
n.4754G>C
n.4758G>C
n.4757G>C
6g.38842695G=CA1622424099DNAH8c.4637G= (p.Trp1546=)
c.3986G= (p.Trp1329=)
c.4574G= (p.Trp1525=)
c.4400G= (p.Trp1467=)
n.4754G=
n.4758G=
n.4757G=
6g.38842695G>TCA364003499DNAH8c.4637G>T (p.Trp1546Leu)
c.3986G>T (p.Trp1329Leu)
c.4574G>T (p.Trp1525Leu)
c.4400G>T (p.Trp1467Leu)
n.4754G>T
n.4758G>T
n.4757G>T
6g.38842696G>ACA3789186DNAH8c.4638G>A (p.Trp1546Ter)
c.3987G>A (p.Trp1329Ter)
c.4575G>A (p.Trp1525Ter)
c.4401G>A (p.Trp1467Ter)
n.4755G>A
n.4759G>A
n.4758G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
6g.38842696G>CCA364003502DNAH8c.4638G>C (p.Trp1546Cys)
c.3987G>C (p.Trp1329Cys)
c.4575G>C (p.Trp1525Cys)
c.4401G>C (p.Trp1467Cys)
n.4755G>C
n.4759G>C
n.4758G>C
6g.38842696G=CA1622424105DNAH8c.4638G= (p.Trp1546=)
c.3987G= (p.Trp1329=)
c.4575G= (p.Trp1525=)
c.4401G= (p.Trp1467=)
n.4755G=
n.4759G=
n.4758G=
6g.38842696G>TCA364003504DNAH8c.4638G>T (p.Trp1546Cys)
c.3987G>T (p.Trp1329Cys)
c.4575G>T (p.Trp1525Cys)
c.4401G>T (p.Trp1467Cys)
n.4755G>T
n.4759G>T
n.4758G>T
6g.38842697C>ACA364003506DNAH8c.4639C>A (p.Gln1547Lys)
c.3988C>A (p.Gln1330Lys)
c.4576C>A (p.Gln1526Lys)
c.4402C>A (p.Gln1468Lys)
n.4756C>A
n.4760C>A
n.4759C>A
6g.38842697C>GCA364003509DNAH8c.4639C>G (p.Gln1547Glu)
c.3988C>G (p.Gln1330Glu)
c.4576C>G (p.Gln1526Glu)
c.4402C>G (p.Gln1468Glu)
n.4756C>G
n.4760C>G
n.4759C>G
6g.38842697C>TCA364003508DNAH8c.4639C>T (p.Gln1547Ter)
c.3988C>T (p.Gln1330Ter)
c.4576C>T (p.Gln1526Ter)
c.4402C>T (p.Gln1468Ter)
n.4756C>T
n.4760C>T
n.4759C>T
6g.38842698A>CCA364003511DNAH8c.4640A>C (p.Gln1547Pro)
c.3989A>C (p.Gln1330Pro)
c.4577A>C (p.Gln1526Pro)
c.4403A>C (p.Gln1468Pro)
n.4757A>C
n.4761A>C
n.4760A>C
6g.38842698A>GCA364003512DNAH8c.4640A>G (p.Gln1547Arg)
c.3989A>G (p.Gln1330Arg)
c.4577A>G (p.Gln1526Arg)
c.4403A>G (p.Gln1468Arg)
n.4757A>G
n.4761A>G
n.4760A>G
6g.38842698A>TCA364003514DNAH8c.4640A>T (p.Gln1547Leu)
c.3989A>T (p.Gln1330Leu)
c.4577A>T (p.Gln1526Leu)
c.4403A>T (p.Gln1468Leu)
n.4757A>T
n.4761A>T
n.4760A>T
6g.38842699A=CA1622424107DNAH8c.4641A= (p.Gln1547=)
c.3990A= (p.Gln1330=)
c.4578A= (p.Gln1526=)
c.4404A= (p.Gln1468=)
n.4758A=
n.4762A=
n.4761A=
6g.38842699A>CCA364003517DNAH8c.4641A>C (p.Gln1547His)
c.3990A>C (p.Gln1330His)
c.4578A>C (p.Gln1526His)
c.4404A>C (p.Gln1468His)
n.4758A>C
n.4762A>C
n.4761A>C
 ClinVar dbSNP
6g.38842699A>GCA450134087DNAH8c.4641A>G (p.Gln1547=)
c.3990A>G (p.Gln1330=)
c.4578A>G (p.Gln1526=)
c.4404A>G (p.Gln1468=)
n.4758A>G
n.4762A>G
n.4761A>G
6g.38842699A>TCA364003519DNAH8c.4641A>T (p.Gln1547His)
c.3990A>T (p.Gln1330His)
c.4578A>T (p.Gln1526His)
c.4404A>T (p.Gln1468His)
n.4758A>T
n.4762A>T
n.4761A>T
6g.38842700G>ACA364003521DNAH8c.4642G>A (p.Ala1548Thr)
c.3991G>A (p.Ala1331Thr)
c.4579G>A (p.Ala1527Thr)
c.4405G>A (p.Ala1469Thr)
n.4759G>A
n.4763G>A
n.4762G>A
 dbSNP gnomAD v4
6g.38842700G>CCA364003523DNAH8c.4642G>C (p.Ala1548Pro)
c.3991G>C (p.Ala1331Pro)
c.4579G>C (p.Ala1527Pro)
c.4405G>C (p.Ala1469Pro)
n.4759G>C
n.4763G>C
n.4762G>C
6g.38842700G=CA1622424109DNAH8c.4642G= (p.Ala1548=)
c.3991G= (p.Ala1331=)
c.4579G= (p.Ala1527=)
c.4405G= (p.Ala1469=)
n.4759G=
n.4763G=
n.4762G=
6g.38842700G>TCA364003525DNAH8c.4642G>T (p.Ala1548Ser)
c.3991G>T (p.Ala1331Ser)
c.4579G>T (p.Ala1527Ser)
c.4405G>T (p.Ala1469Ser)
n.4759G>T
n.4763G>T
n.4762G>T
6g.38842701delCA2678595848DNAH8c.4643del (p.Ala1548ValfsTer21)
c.3992del (p.Ala1331ValfsTer21)
c.4580del (p.Ala1527ValfsTer21)
c.4406del (p.Ala1469ValfsTer21)
n.4760del
n.4764del
n.4763del
 gnomAD v4
6g.38842701C>ACA364003527DNAH8c.4643C>A (p.Ala1548Asp)
c.3992C>A (p.Ala1331Asp)
c.4580C>A (p.Ala1527Asp)
c.4406C>A (p.Ala1469Asp)
n.4760C>A
n.4764C>A
n.4763C>A
 gnomAD v4
6g.38842701C>GCA364003529DNAH8c.4643C>G (p.Ala1548Gly)
c.3992C>G (p.Ala1331Gly)
c.4580C>G (p.Ala1527Gly)
c.4406C>G (p.Ala1469Gly)
n.4760C>G
n.4764C>G
n.4763C>G
6g.38842701C>TCA364003531DNAH8c.4643C>T (p.Ala1548Val)
c.3992C>T (p.Ala1331Val)
c.4580C>T (p.Ala1527Val)
c.4406C>T (p.Ala1469Val)
n.4760C>T
n.4764C>T
n.4763C>T
 gnomAD v4
6g.38842702T>ACA450134090DNAH8c.4644T>A (p.Ala1548=)
c.3993T>A (p.Ala1331=)
c.4581T>A (p.Ala1527=)
c.4407T>A (p.Ala1469=)
n.4761T>A
n.4765T>A
n.4764T>A
 dbSNP gnomAD v4
6g.38842702T>CCA450134091DNAH8c.4644T>C (p.Ala1548=)
c.3993T>C (p.Ala1331=)
c.4581T>C (p.Ala1527=)
c.4407T>C (p.Ala1469=)
n.4761T>C
n.4765T>C
n.4764T>C
6g.38842702T>GCA450134089DNAH8c.4644T>G (p.Ala1548=)
c.3993T>G (p.Ala1331=)
c.4581T>G (p.Ala1527=)
c.4407T>G (p.Ala1469=)
n.4761T>G
n.4765T>G
n.4764T>G
6g.38842702T=CA1622424113DNAH8c.4644T= (p.Ala1548=)
c.3993T= (p.Ala1331=)
c.4581T= (p.Ala1527=)
c.4407T= (p.Ala1469=)
n.4761T=
n.4765T=
n.4764T=
6g.38842707dupCA450134088DNAH8c.4649dup (p.Leu1550PhefsTer8)
c.3998dup (p.Leu1333PhefsTer8)
c.4586dup (p.Leu1529PhefsTer8)
c.4412dup (p.Leu1471PhefsTer8)
n.4766dup
n.4770dup
n.4769dup
 COSMIC COSMIC COSMIC
6g.38842707delCA645546517DNAH8c.4649del (p.Leu1550TrpfsTer19)
c.3998del (p.Leu1333TrpfsTer19)
c.4586del (p.Leu1529TrpfsTer19)
c.4412del (p.Leu1471TrpfsTer19)
n.4766del
n.4770del
n.4769del
 gnomAD v4 COSMIC COSMIC COSMIC
6g.38842703T>ACA364003536DNAH8c.4645T>A (p.Phe1549Ile)
c.3994T>A (p.Phe1332Ile)
c.4582T>A (p.Phe1528Ile)
c.4408T>A (p.Phe1470Ile)
n.4762T>A
n.4766T>A
n.4765T>A
6g.38842703T>CCA364003534DNAH8c.4645T>C (p.Phe1549Leu)
c.3994T>C (p.Phe1332Leu)
c.4582T>C (p.Phe1528Leu)
c.4408T>C (p.Phe1470Leu)
n.4762T>C
n.4766T>C
n.4765T>C
 dbSNP gnomAD v2 gnomAD v4
6g.38842703T>GCA3789187DNAH8c.4645T>G (p.Phe1549Val)
c.3994T>G (p.Phe1332Val)
c.4582T>G (p.Phe1528Val)
c.4408T>G (p.Phe1470Val)
n.4762T>G
n.4766T>G
n.4765T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.38842703T=CA1622424117DNAH8c.4645T= (p.Phe1549=)
c.3994T= (p.Phe1332=)
c.4582T= (p.Phe1528=)
c.4408T= (p.Phe1470=)
n.4762T=
n.4766T=
n.4765T=
6g.38842704T>ACA364003538DNAH8c.4646T>A (p.Phe1549Tyr)
c.3995T>A (p.Phe1332Tyr)
c.4583T>A (p.Phe1528Tyr)
c.4409T>A (p.Phe1470Tyr)
n.4763T>A
n.4767T>A
n.4766T>A
6g.38842704T>CCA364003539DNAH8c.4646T>C (p.Phe1549Ser)
c.3995T>C (p.Phe1332Ser)
c.4583T>C (p.Phe1528Ser)
c.4409T>C (p.Phe1470Ser)
n.4763T>C
n.4767T>C
n.4766T>C
6g.38842704T>GCA364003540DNAH8c.4646T>G (p.Phe1549Cys)
c.3995T>G (p.Phe1332Cys)
c.4583T>G (p.Phe1528Cys)
c.4409T>G (p.Phe1470Cys)
n.4763T>G
n.4767T>G
n.4766T>G
6g.38842705T>ACA364003543DNAH8c.4647T>A (p.Phe1549Leu)
c.3996T>A (p.Phe1332Leu)
c.4584T>A (p.Phe1528Leu)
c.4410T>A (p.Phe1470Leu)
n.4764T>A
n.4768T>A
n.4767T>A
6g.38842705T>CCA450134092DNAH8c.4647T>C (p.Phe1549=)
c.3996T>C (p.Phe1332=)
c.4584T>C (p.Phe1528=)
c.4410T>C (p.Phe1470=)
n.4764T>C
n.4768T>C
n.4767T>C
6g.38842705T>GCA364003545DNAH8c.4647T>G (p.Phe1549Leu)
c.3996T>G (p.Phe1332Leu)
c.4584T>G (p.Phe1528Leu)
c.4410T>G (p.Phe1470Leu)
n.4764T>G
n.4768T>G
n.4767T>G
6g.38842706T>ACA364003546DNAH8c.4648T>A (p.Leu1550Met)
c.3997T>A (p.Leu1333Met)
c.4585T>A (p.Leu1529Met)
c.4411T>A (p.Leu1471Met)
n.4765T>A
n.4769T>A
n.4768T>A
6g.38842706T>CCA450134093DNAH8c.4648T>C (p.Leu1550=)
c.3997T>C (p.Leu1333=)
c.4585T>C (p.Leu1529=)
c.4411T>C (p.Leu1471=)
n.4765T>C
n.4769T>C
n.4768T>C
 dbSNP gnomAD v4
6g.38842706T>GCA364003548DNAH8c.4648T>G (p.Leu1550Val)
c.3997T>G (p.Leu1333Val)
c.4585T>G (p.Leu1529Val)
c.4411T>G (p.Leu1471Val)
n.4765T>G
n.4769T>G
n.4768T>G
6g.38842706T=CA1622424119DNAH8c.4648T= (p.Leu1550=)
c.3997T= (p.Leu1333=)
c.4585T= (p.Leu1529=)
c.4411T= (p.Leu1471=)
n.4765T=
n.4769T=
n.4768T=
6g.38842707T>ACA364003550DNAH8c.4649T>A (p.Leu1550Ter)
c.3998T>A (p.Leu1333Ter)
c.4586T>A (p.Leu1529Ter)
c.4412T>A (p.Leu1471Ter)
n.4766T>A
n.4770T>A
n.4769T>A
6g.38842707T>CCA364003551DNAH8c.4649T>C (p.Leu1550Ser)
c.3998T>C (p.Leu1333Ser)
c.4586T>C (p.Leu1529Ser)
c.4412T>C (p.Leu1471Ser)
n.4766T>C
n.4770T>C
n.4769T>C
6g.38842707T>GCA364003553DNAH8c.4649T>G (p.Leu1550Trp)
c.3998T>G (p.Leu1333Trp)
c.4586T>G (p.Leu1529Trp)
c.4412T>G (p.Leu1471Trp)
n.4766T>G
n.4770T>G
n.4769T>G
 COSMIC COSMIC COSMIC
6g.38842708G>ACA450134094DNAH8c.4650G>A (p.Leu1550=)
c.3999G>A (p.Leu1333=)
c.4587G>A (p.Leu1529=)
c.4413G>A (p.Leu1471=)
n.4767G>A
n.4771G>A
n.4770G>A
 gnomAD v4
6g.38842708G>CCA364003556DNAH8c.4650G>C (p.Leu1550Phe)
c.3999G>C (p.Leu1333Phe)
c.4587G>C (p.Leu1529Phe)
c.4413G>C (p.Leu1471Phe)
n.4767G>C
n.4771G>C
n.4770G>C
6g.38842708G>TCA364003557DNAH8c.4650G>T (p.Leu1550Phe)
c.3999G>T (p.Leu1333Phe)
c.4587G>T (p.Leu1529Phe)
c.4413G>T (p.Leu1471Phe)
n.4767G>T
n.4771G>T
n.4770G>T
6g.38842709G>ACA364003560DNAH8c.4651G>A (p.Asp1551Asn)
c.4000G>A (p.Asp1334Asn)
c.4588G>A (p.Asp1530Asn)
c.4414G>A (p.Asp1472Asn)
n.4768G>A
n.4772G>A
n.4771G>A
 COSMIC COSMIC COSMIC
6g.38842709G>CCA364003562DNAH8c.4651G>C (p.Asp1551His)
c.4000G>C (p.Asp1334His)
c.4588G>C (p.Asp1530His)
c.4414G>C (p.Asp1472His)
n.4768G>C
n.4772G>C
n.4771G>C
 gnomAD v4
6g.38842709G>TCA364003558DNAH8c.4651G>T (p.Asp1551Tyr)
c.4000G>T (p.Asp1334Tyr)
c.4588G>T (p.Asp1530Tyr)
c.4414G>T (p.Asp1472Tyr)
n.4768G>T
n.4772G>T
n.4771G>T
6g.38842710A>CCA364003564DNAH8c.4652A>C (p.Asp1551Ala)
c.4001A>C (p.Asp1334Ala)
c.4589A>C (p.Asp1530Ala)
c.4415A>C (p.Asp1472Ala)
n.4769A>C
n.4773A>C
n.4772A>C
6g.38842710A>GCA364003565DNAH8c.4652A>G (p.Asp1551Gly)
c.4001A>G (p.Asp1334Gly)
c.4589A>G (p.Asp1530Gly)
c.4415A>G (p.Asp1472Gly)
n.4769A>G
n.4773A>G
n.4772A>G
6g.38842710A>TCA364003567DNAH8c.4652A>T (p.Asp1551Val)
c.4001A>T (p.Asp1334Val)
c.4589A>T (p.Asp1530Val)
c.4415A>T (p.Asp1472Val)
n.4769A>T
n.4773A>T
n.4772A>T
6g.38842711T>ACA3789188DNAH8c.4653T>A (p.Asp1551Glu)
c.4002T>A (p.Asp1334Glu)
c.4590T>A (p.Asp1530Glu)
c.4416T>A (p.Asp1472Glu)
n.4770T>A
n.4774T>A
n.4773T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.38842711T>CCA450134095DNAH8c.4653T>C (p.Asp1551=)
c.4002T>C (p.Asp1334=)
c.4590T>C (p.Asp1530=)
c.4416T>C (p.Asp1472=)
n.4770T>C
n.4774T>C
n.4773T>C
6g.38842711T>GCA364003570DNAH8c.4653T>G (p.Asp1551Glu)
c.4002T>G (p.Asp1334Glu)
c.4590T>G (p.Asp1530Glu)
c.4416T>G (p.Asp1472Glu)
n.4770T>G
n.4774T>G
n.4773T>G
6g.38842711T=CA1622424121DNAH8c.4653T= (p.Asp1551=)
c.4002T= (p.Asp1334=)
c.4590T= (p.Asp1530=)
c.4416T= (p.Asp1472=)
n.4770T=
n.4774T=
n.4773T=
6g.38842712C>ACA364003576DNAH8c.4654C>A (p.Leu1552Ile)
c.4003C>A (p.Leu1335Ile)
c.4591C>A (p.Leu1531Ile)
c.4417C>A (p.Leu1473Ile)
n.4771C>A
n.4775C>A
n.4774C>A
6g.38842712C>GCA364003575DNAH8c.4654C>G (p.Leu1552Val)
c.4003C>G (p.Leu1335Val)
c.4591C>G (p.Leu1531Val)
c.4417C>G (p.Leu1473Val)
n.4771C>G
n.4775C>G
n.4774C>G
6g.38842712C>TCA364003573DNAH8c.4654C>T (p.Leu1552Phe)
c.4003C>T (p.Leu1335Phe)
c.4591C>T (p.Leu1531Phe)
c.4417C>T (p.Leu1473Phe)
n.4771C>T
n.4775C>T
n.4774C>T
 gnomAD v4
6g.38842713T>ACA364003577DNAH8c.4655T>A (p.Leu1552His)
c.4004T>A (p.Leu1335His)
c.4592T>A (p.Leu1531His)
c.4418T>A (p.Leu1473His)
n.4772T>A
n.4776T>A
n.4775T>A
6g.38842713T>CCA364003579DNAH8c.4655T>C (p.Leu1552Pro)
c.4004T>C (p.Leu1335Pro)
c.4592T>C (p.Leu1531Pro)
c.4418T>C (p.Leu1473Pro)
n.4772T>C
n.4776T>C
n.4775T>C
6g.38842713T>GCA364003580DNAH8c.4655T>G (p.Leu1552Arg)
c.4004T>G (p.Leu1335Arg)
c.4592T>G (p.Leu1531Arg)
c.4418T>G (p.Leu1473Arg)
n.4772T>G
n.4776T>G
n.4775T>G
6g.38842714C>ACA450134096DNAH8c.4656C>A (p.Leu1552=)
c.4005C>A (p.Leu1335=)
c.4593C>A (p.Leu1531=)
c.4419C>A (p.Leu1473=)
n.4773C>A
n.4777C>A
n.4776C>A
 gnomAD v4
6g.38842714C>GCA450134097DNAH8c.4656C>G (p.Leu1552=)
c.4005C>G (p.Leu1335=)
c.4593C>G (p.Leu1531=)
c.4419C>G (p.Leu1473=)
n.4773C>G
n.4777C>G
n.4776C>G
6g.38842714C>TCA450134098DNAH8c.4656C>T (p.Leu1552=)
c.4005C>T (p.Leu1335=)
c.4593C>T (p.Leu1531=)
c.4419C>T (p.Leu1473=)
n.4773C>T
n.4777C>T
n.4776C>T
6g.38842715A>CCA364003583DNAH8c.4657A>C (p.Lys1553Gln)
c.4006A>C (p.Lys1336Gln)
c.4594A>C (p.Lys1532Gln)
c.4420A>C (p.Lys1474Gln)
n.4774A>C
n.4778A>C
n.4777A>C
6g.38842715A>GCA364003585DNAH8c.4657A>G (p.Lys1553Glu)
c.4006A>G (p.Lys1336Glu)
c.4594A>G (p.Lys1532Glu)
c.4420A>G (p.Lys1474Glu)
n.4774A>G
n.4778A>G
n.4777A>G
6g.38842715A>TCA364003586DNAH8c.4657A>T (p.Lys1553Ter)
c.4006A>T (p.Lys1336Ter)
c.4594A>T (p.Lys1532Ter)
c.4420A>T (p.Lys1474Ter)
n.4774A>T
n.4778A>T
n.4777A>T
6g.38842716A=CA1622424124DNAH8c.4658A= (p.Lys1553=)
c.4007A= (p.Lys1336=)
c.4595A= (p.Lys1532=)
c.4421A= (p.Lys1474=)
n.4775A=
n.4779A=
n.4778A=
6g.38842716A>CCA364003588DNAH8c.4658A>C (p.Lys1553Thr)
c.4007A>C (p.Lys1336Thr)
c.4595A>C (p.Lys1532Thr)
c.4421A>C (p.Lys1474Thr)
n.4775A>C
n.4779A>C
n.4778A>C
6g.38842716A>GCA3789189DNAH8c.4658A>G (p.Lys1553Arg)
c.4007A>G (p.Lys1336Arg)
c.4595A>G (p.Lys1532Arg)
c.4421A>G (p.Lys1474Arg)
n.4775A>G
n.4779A>G
n.4778A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.38842716A>TCA364003590DNAH8c.4658A>T (p.Lys1553Ile)
c.4007A>T (p.Lys1336Ile)
c.4595A>T (p.Lys1532Ile)
c.4421A>T (p.Lys1474Ile)
n.4775A>T
n.4779A>T
n.4778A>T
6g.38842717A>CCA364003592DNAH8c.4659A>C (p.Lys1553Asn)
c.4008A>C (p.Lys1336Asn)
c.4596A>C (p.Lys1532Asn)
c.4422A>C (p.Lys1474Asn)
n.4776A>C
n.4780A>C
n.4779A>C
 gnomAD v4
6g.38842717A>GCA450134099DNAH8c.4659A>G (p.Lys1553=)
c.4008A>G (p.Lys1336=)
c.4596A>G (p.Lys1532=)
c.4422A>G (p.Lys1474=)
n.4776A>G
n.4780A>G
n.4779A>G
6g.38842717A>TCA364003594DNAH8c.4659A>T (p.Lys1553Asn)
c.4008A>T (p.Lys1336Asn)
c.4596A>T (p.Lys1532Asn)
c.4422A>T (p.Lys1474Asn)
n.4776A>T
n.4780A>T
n.4779A>T
6g.38842718A>CCA364003596DNAH8c.4660A>C (p.Lys1554Gln)
c.4009A>C (p.Lys1337Gln)
c.4597A>C (p.Lys1533Gln)
c.4423A>C (p.Lys1475Gln)
n.4777A>C
n.4781A>C
n.4780A>C
6g.38842718A>GCA364003598DNAH8c.4660A>G (p.Lys1554Glu)
c.4009A>G (p.Lys1337Glu)
c.4597A>G (p.Lys1533Glu)
c.4423A>G (p.Lys1475Glu)
n.4777A>G
n.4781A>G
n.4780A>G
6g.38842718A>TCA364003600DNAH8c.4660A>T (p.Lys1554Ter)
c.4009A>T (p.Lys1337Ter)
c.4597A>T (p.Lys1533Ter)
c.4423A>T (p.Lys1475Ter)
n.4777A>T
n.4781A>T
n.4780A>T
6g.38842719A>CCA364003601DNAH8c.4661A>C (p.Lys1554Thr)
c.4010A>C (p.Lys1337Thr)
c.4598A>C (p.Lys1533Thr)
c.4424A>C (p.Lys1475Thr)
n.4778A>C
n.4782A>C
n.4781A>C
6g.38842719A>GCA364003603DNAH8c.4661A>G (p.Lys1554Arg)
c.4010A>G (p.Lys1337Arg)
c.4598A>G (p.Lys1533Arg)
c.4424A>G (p.Lys1475Arg)
n.4778A>G
n.4782A>G
n.4781A>G
6g.38842719A>TCA364003604DNAH8c.4661A>T (p.Lys1554Met)
c.4010A>T (p.Lys1337Met)
c.4598A>T (p.Lys1533Met)
c.4424A>T (p.Lys1475Met)
n.4778A>T
n.4782A>T
n.4781A>T
6g.38842720G>ACA450134100DNAH8c.4662G>A (p.Lys1554=)
c.4011G>A (p.Lys1337=)
c.4599G>A (p.Lys1533=)
c.4425G>A (p.Lys1475=)
n.4779G>A
n.4783G>A
n.4782G>A
6g.38842720G>CCA364003606DNAH8c.4662G>C (p.Lys1554Asn)
c.4011G>C (p.Lys1337Asn)
c.4599G>C (p.Lys1533Asn)
c.4425G>C (p.Lys1475Asn)
n.4779G>C
n.4783G>C
n.4782G>C
 dbSNP gnomAD v3 gnomAD v4
6g.38842720G=CA1622424126DNAH8c.4662G= (p.Lys1554=)
c.4011G= (p.Lys1337=)
c.4599G= (p.Lys1533=)
c.4425G= (p.Lys1475=)
n.4779G=
n.4783G=
n.4782G=
6g.38842720G>TCA364003608DNAH8c.4662G>T (p.Lys1554Asn)
c.4011G>T (p.Lys1337Asn)
c.4599G>T (p.Lys1533Asn)
c.4425G>T (p.Lys1475Asn)
n.4779G>T
n.4783G>T
n.4782G>T
6g.38842721A>CCA450134101DNAH8c.4663A>C (p.Arg1555=)
c.4012A>C (p.Arg1338=)
c.4600A>C (p.Arg1534=)
c.4426A>C (p.Arg1476=)
n.4780A>C
n.4784A>C
n.4783A>C
6g.38842721A>GCA364003609DNAH8c.4663A>G (p.Arg1555Gly)
c.4012A>G (p.Arg1338Gly)
c.4600A>G (p.Arg1534Gly)
c.4426A>G (p.Arg1476Gly)
n.4780A>G
n.4784A>G
n.4783A>G
6g.38842721A>TCA364003610DNAH8c.4663A>T (p.Arg1555Ter)
c.4012A>T (p.Arg1338Ter)
c.4600A>T (p.Arg1534Ter)
c.4426A>T (p.Arg1476Ter)
n.4780A>T
n.4784A>T
n.4783A>T
6g.38842722G>ACA364003612DNAH8c.4664G>A (p.Arg1555Lys)
c.4013G>A (p.Arg1338Lys)
c.4601G>A (p.Arg1534Lys)
c.4427G>A (p.Arg1476Lys)
n.4781G>A
n.4785G>A
n.4784G>A
 COSMIC COSMIC COSMIC
6g.38842722G>CCA364003616DNAH8c.4664G>C (p.Arg1555Thr)
c.4013G>C (p.Arg1338Thr)
c.4601G>C (p.Arg1534Thr)
c.4427G>C (p.Arg1476Thr)
n.4781G>C
n.4785G>C
n.4784G>C
6g.38842722G>TCA364003614DNAH8c.4664G>T (p.Arg1555Ile)
c.4013G>T (p.Arg1338Ile)
c.4601G>T (p.Arg1534Ile)
c.4427G>T (p.Arg1476Ile)
n.4781G>T
n.4785G>T
n.4784G>T
6g.38842723A=CA1622424127DNAH8c.4665A= (p.Arg1555=)
c.4014A= (p.Arg1338=)
c.4602A= (p.Arg1534=)
c.4428A= (p.Arg1476=)
n.4782A=
n.4786A=
n.4785A=
6g.38842723A>CCA364003617DNAH8c.4665A>C (p.Arg1555Ser)
c.4014A>C (p.Arg1338Ser)
c.4602A>C (p.Arg1534Ser)
c.4428A>C (p.Arg1476Ser)
n.4782A>C
n.4786A>C
n.4785A>C
6g.38842723A>GCA450134102DNAH8c.4665A>G (p.Arg1555=)
c.4014A>G (p.Arg1338=)
c.4602A>G (p.Arg1534=)
c.4428A>G (p.Arg1476=)
n.4782A>G
n.4786A>G
n.4785A>G
6g.38842723A>TCA137569373DNAH8c.4665A>T (p.Arg1555Ser)
c.4014A>T (p.Arg1338Ser)
c.4602A>T (p.Arg1534Ser)
c.4428A>T (p.Arg1476Ser)
n.4782A>T
n.4786A>T
n.4785A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.38842724A>CCA364003621DNAH8c.4666A>C (p.Ile1556Leu)
c.4015A>C (p.Ile1339Leu)
c.4603A>C (p.Ile1535Leu)
c.4429A>C (p.Ile1477Leu)
n.4783A>C
n.4787A>C
n.4786A>C
6g.38842724A>GCA364003622DNAH8c.4666A>G (p.Ile1556Val)
c.4015A>G (p.Ile1339Val)
c.4603A>G (p.Ile1535Val)
c.4429A>G (p.Ile1477Val)
n.4783A>G
n.4787A>G
n.4786A>G
6g.38842724A>TCA364003624DNAH8c.4666A>T (p.Ile1556Phe)
c.4015A>T (p.Ile1339Phe)
c.4603A>T (p.Ile1535Phe)
c.4429A>T (p.Ile1477Phe)
n.4783A>T
n.4787A>T
n.4786A>T
6g.38842725T>ACA364003626DNAH8c.4667T>A (p.Ile1556Asn)
c.4016T>A (p.Ile1339Asn)
c.4604T>A (p.Ile1535Asn)
c.4430T>A (p.Ile1477Asn)
n.4784T>A
n.4788T>A
n.4787T>A
6g.38842725T>CCA364003628DNAH8c.4667T>C (p.Ile1556Thr)
c.4016T>C (p.Ile1339Thr)
c.4604T>C (p.Ile1535Thr)
c.4430T>C (p.Ile1477Thr)
n.4784T>C
n.4788T>C
n.4787T>C
6g.38842725T>GCA364003630DNAH8c.4667T>G (p.Ile1556Ser)
c.4016T>G (p.Ile1339Ser)
c.4604T>G (p.Ile1535Ser)
c.4430T>G (p.Ile1477Ser)
n.4784T>G
n.4788T>G
n.4787T>G
6g.38842726T>ACA450134103DNAH8c.4668T>A (p.Ile1556=)
c.4017T>A (p.Ile1339=)
c.4605T>A (p.Ile1535=)
c.4431T>A (p.Ile1477=)
n.4785T>A
n.4789T>A
n.4788T>A
6g.38842726T>CCA450134104DNAH8c.4668T>C (p.Ile1556=)
c.4017T>C (p.Ile1339=)
c.4605T>C (p.Ile1535=)
c.4431T>C (p.Ile1477=)
n.4785T>C
n.4789T>C
n.4788T>C
6g.38842726T>GCA364003632DNAH8c.4668T>G (p.Ile1556Met)
c.4017T>G (p.Ile1339Met)
c.4605T>G (p.Ile1535Met)
c.4431T>G (p.Ile1477Met)
n.4785T>G
n.4789T>G
n.4788T>G
6g.38842727G>ACA364003634DNAH8c.4669G>A (p.Asp1557Asn)
c.4018G>A (p.Asp1340Asn)
c.4606G>A (p.Asp1536Asn)
c.4432G>A (p.Asp1478Asn)
n.4786G>A
n.4790G>A
n.4789G>A
6g.38842727G>CCA364003636DNAH8c.4669G>C (p.Asp1557His)
c.4018G>C (p.Asp1340His)
c.4606G>C (p.Asp1536His)
c.4432G>C (p.Asp1478His)
n.4786G>C
n.4790G>C
n.4789G>C
6g.38842727G>TCA364003638DNAH8c.4669G>T (p.Asp1557Tyr)
c.4018G>T (p.Asp1340Tyr)
c.4606G>T (p.Asp1536Tyr)
c.4432G>T (p.Asp1478Tyr)
n.4786G>T
n.4790G>T
n.4789G>T
6g.38842728A>CCA364003644DNAH8c.4670A>C (p.Asp1557Ala)
c.4019A>C (p.Asp1340Ala)
c.4607A>C (p.Asp1536Ala)
c.4433A>C (p.Asp1478Ala)
n.4787A>C
n.4791A>C
n.4790A>C
6g.38842728A>GCA364003642DNAH8c.4670A>G (p.Asp1557Gly)
c.4019A>G (p.Asp1340Gly)
c.4607A>G (p.Asp1536Gly)
c.4433A>G (p.Asp1478Gly)
n.4787A>G
n.4791A>G
n.4790A>G
 gnomAD v4
6g.38842728A>TCA364003640DNAH8c.4670A>T (p.Asp1557Val)
c.4019A>T (p.Asp1340Val)
c.4607A>T (p.Asp1536Val)
c.4433A>T (p.Asp1478Val)
n.4787A>T
n.4791A>T
n.4790A>T
 gnomAD v4
6g.38842729T>ACA364003645DNAH8c.4671T>A (p.Asp1557Glu)
c.4020T>A (p.Asp1340Glu)
c.4608T>A (p.Asp1536Glu)
c.4434T>A (p.Asp1478Glu)
n.4788T>A
n.4792T>A
n.4791T>A
 dbSNP
6g.38842729T>CCA450134105DNAH8c.4671T>C (p.Asp1557=)
c.4020T>C (p.Asp1340=)
c.4608T>C (p.Asp1536=)
c.4434T>C (p.Asp1478=)
n.4788T>C
n.4792T>C
n.4791T>C
6g.38842729T>GCA364003647DNAH8c.4671T>G (p.Asp1557Glu)
c.4020T>G (p.Asp1340Glu)
c.4608T>G (p.Asp1536Glu)
c.4434T>G (p.Asp1478Glu)
n.4788T>G
n.4792T>G
n.4791T>G
6g.38842730G>ACA364003649DNAH8c.4672G>A (p.Asp1558Asn)
c.4021G>A (p.Asp1341Asn)
c.4609G>A (p.Asp1537Asn)
c.4435G>A (p.Asp1479Asn)
n.4789G>A
n.4793G>A
n.4792G>A
6g.38842730G>CCA364003650DNAH8c.4672G>C (p.Asp1558His)
c.4021G>C (p.Asp1341His)
c.4609G>C (p.Asp1537His)
c.4435G>C (p.Asp1479His)
n.4789G>C
n.4793G>C
n.4792G>C
6g.38842730G>TCA364003652DNAH8c.4672G>T (p.Asp1558Tyr)
c.4021G>T (p.Asp1341Tyr)
c.4609G>T (p.Asp1537Tyr)
c.4435G>T (p.Asp1479Tyr)
n.4789G>T
n.4793G>T
n.4792G>T
6g.38842731A>CCA364003654DNAH8c.4673A>C (p.Asp1558Ala)
c.4022A>C (p.Asp1341Ala)
c.4610A>C (p.Asp1537Ala)
c.4436A>C (p.Asp1479Ala)
n.4790A>C
n.4794A>C
n.4793A>C
6g.38842731A>GCA364003655DNAH8c.4673A>G (p.Asp1558Gly)
c.4022A>G (p.Asp1341Gly)
c.4610A>G (p.Asp1537Gly)
c.4436A>G (p.Asp1479Gly)
n.4790A>G
n.4794A>G
n.4793A>G
6g.38842731A>TCA364003656DNAH8c.4673A>T (p.Asp1558Val)
c.4022A>T (p.Asp1341Val)
c.4610A>T (p.Asp1537Val)
c.4436A>T (p.Asp1479Val)
n.4790A>T
n.4794A>T
n.4793A>T
6g.38842732T>ACA3789190DNAH8c.4674T>A (p.Asp1558Glu)
c.4023T>A (p.Asp1341Glu)
c.4611T>A (p.Asp1537Glu)
c.4437T>A (p.Asp1479Glu)
n.4791T>A
n.4795T>A
n.4794T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.38842732T>CCA450134106DNAH8c.4674T>C (p.Asp1558=)
c.4023T>C (p.Asp1341=)
c.4611T>C (p.Asp1537=)
c.4437T>C (p.Asp1479=)
n.4791T>C
n.4795T>C
n.4794T>C
6g.38842732T>GCA364003658DNAH8c.4674T>G (p.Asp1558Glu)
c.4023T>G (p.Asp1341Glu)
c.4611T>G (p.Asp1537Glu)
c.4437T>G (p.Asp1479Glu)
n.4791T>G
n.4795T>G
n.4794T>G
6g.38842732T=CA1622424129DNAH8c.4674T= (p.Asp1558=)
c.4023T= (p.Asp1341=)
c.4611T= (p.Asp1537=)
c.4437T= (p.Asp1479=)
n.4791T=
n.4795T=
n.4794T=
6g.38842733T>ACA364003661DNAH8c.4675T>A (p.Phe1559Ile)
c.4024T>A (p.Phe1342Ile)
c.4612T>A (p.Phe1538Ile)
c.4438T>A (p.Phe1480Ile)
n.4792T>A
n.4796T>A
n.4795T>A
6g.38842733T>CCA364003663DNAH8c.4675T>C (p.Phe1559Leu)
c.4024T>C (p.Phe1342Leu)
c.4612T>C (p.Phe1538Leu)
c.4438T>C (p.Phe1480Leu)
n.4792T>C
n.4796T>C
n.4795T>C
6g.38842733T>GCA364003664DNAH8c.4675T>G (p.Phe1559Val)
c.4024T>G (p.Phe1342Val)
c.4612T>G (p.Phe1538Val)
c.4438T>G (p.Phe1480Val)
n.4792T>G
n.4796T>G
n.4795T>G
6g.38842734T>ACA364003668DNAH8c.4676T>A (p.Phe1559Tyr)
c.4025T>A (p.Phe1342Tyr)
c.4613T>A (p.Phe1538Tyr)
c.4439T>A (p.Phe1480Tyr)
n.4793T>A
n.4797T>A
n.4796T>A
6g.38842734T>CCA364003670DNAH8c.4676T>C (p.Phe1559Ser)
c.4025T>C (p.Phe1342Ser)
c.4613T>C (p.Phe1538Ser)
c.4439T>C (p.Phe1480Ser)
n.4793T>C
n.4797T>C
n.4796T>C
6g.38842734T>GCA364003666DNAH8c.4676T>G (p.Phe1559Cys)
c.4025T>G (p.Phe1342Cys)
c.4613T>G (p.Phe1538Cys)
c.4439T>G (p.Phe1480Cys)
n.4793T>G
n.4797T>G
n.4796T>G
6g.38842735C>ACA364003672DNAH8c.4677C>A (p.Phe1559Leu)
c.4026C>A (p.Phe1342Leu)
c.4614C>A (p.Phe1538Leu)
c.4440C>A (p.Phe1480Leu)
n.4794C>A
n.4798C>A
n.4797C>A
 dbSNP
6g.38842735C>GCA364003671DNAH8c.4677C>G (p.Phe1559Leu)
c.4026C>G (p.Phe1342Leu)
c.4614C>G (p.Phe1538Leu)
c.4440C>G (p.Phe1480Leu)
n.4794C>G
n.4798C>G
n.4797C>G
6g.38842735C>TCA450134107DNAH8c.4677C>T (p.Phe1559=)
c.4026C>T (p.Phe1342=)
c.4614C>T (p.Phe1538=)
c.4440C>T (p.Phe1480=)
n.4794C>T
n.4798C>T
n.4797C>T
 gnomAD v4 COSMIC COSMIC
6g.38842736A>CCA364003675DNAH8c.4678A>C (p.Ser1560Arg)
c.4027A>C (p.Ser1343Arg)
c.4615A>C (p.Ser1539Arg)
c.4441A>C (p.Ser1481Arg)
n.4795A>C
n.4799A>C
n.4798A>C
6g.38842736A>GCA364003676DNAH8c.4678A>G (p.Ser1560Gly)
c.4027A>G (p.Ser1343Gly)
c.4615A>G (p.Ser1539Gly)
c.4441A>G (p.Ser1481Gly)
n.4795A>G
n.4799A>G
n.4798A>G
6g.38842736A>TCA364003678DNAH8c.4678A>T (p.Ser1560Cys)
c.4027A>T (p.Ser1343Cys)
c.4615A>T (p.Ser1539Cys)
c.4441A>T (p.Ser1481Cys)
n.4795A>T
n.4799A>T
n.4798A>T
 dbSNP
6g.38842737G>ACA364003681DNAH8c.4679G>A (p.Ser1560Asn)
c.4028G>A (p.Ser1343Asn)
c.4616G>A (p.Ser1539Asn)
c.4442G>A (p.Ser1481Asn)
n.4796G>A
n.4800G>A
n.4799G>A
 dbSNP gnomAD v2 gnomAD v4
6g.38842737G>CCA364003682DNAH8c.4679G>C (p.Ser1560Thr)
c.4028G>C (p.Ser1343Thr)
c.4616G>C (p.Ser1539Thr)
c.4442G>C (p.Ser1481Thr)
n.4796G>C
n.4800G>C
n.4799G>C
6g.38842737G=CA1622424132DNAH8c.4679G= (p.Ser1560=)
c.4028G= (p.Ser1343=)
c.4616G= (p.Ser1539=)
c.4442G= (p.Ser1481=)
n.4796G=
n.4800G=
n.4799G=
6g.38842737G>TCA364003684DNAH8c.4679G>T (p.Ser1560Ile)
c.4028G>T (p.Ser1343Ile)
c.4616G>T (p.Ser1539Ile)
c.4442G>T (p.Ser1481Ile)
n.4796G>T
n.4800G>T
n.4799G>T
6g.38842737_38842738delinsGTCA1622424133DNAH8c.4679_4680delinsGT (p.Ser1560=)
c.4028_4029delinsGT (p.Ser1343=)
c.4616_4617delinsGT (p.Ser1539=)
c.4442_4443delinsGT (p.Ser1481=)
n.4796_4797delinsGT
n.4800_4801delinsGT
n.4799_4800delinsGT
6g.38842738delCA566705642DNAH8c.4680del (p.Ser1560ArgfsTer9)
c.4029del (p.Ser1343ArgfsTer9)
c.4617del (p.Ser1539ArgfsTer9)
c.4443del (p.Ser1481ArgfsTer9)
n.4797del
n.4801del
n.4800del
 dbSNP gnomAD v2 gnomAD v4
6g.38842738T>ACA364003686DNAH8c.4680T>A (p.Ser1560Arg)
c.4029T>A (p.Ser1343Arg)
c.4617T>A (p.Ser1539Arg)
c.4443T>A (p.Ser1481Arg)
n.4797T>A
n.4801T>A
n.4800T>A
6g.38842738T>CCA3789191DNAH8c.4680T>C (p.Ser1560=)
c.4029T>C (p.Ser1343=)
c.4617T>C (p.Ser1539=)
c.4443T>C (p.Ser1481=)
n.4797T>C
n.4801T>C
n.4800T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.38842738T>GCA364003689DNAH8c.4680T>G (p.Ser1560Arg)
c.4029T>G (p.Ser1343Arg)
c.4617T>G (p.Ser1539Arg)
c.4443T>G (p.Ser1481Arg)
n.4797T>G
n.4801T>G
n.4800T>G
6g.38842738T=CA1622424138DNAH8c.4680T= (p.Ser1560=)
c.4029T= (p.Ser1343=)
c.4617T= (p.Ser1539=)
c.4443T= (p.Ser1481=)
n.4797T=
n.4801T=
n.4800T=
6g.38842739G>ACA137569389DNAH8c.4681G>A (p.Glu1561Lys)
c.4030G>A (p.Glu1344Lys)
c.4618G>A (p.Glu1540Lys)
c.4444G>A (p.Glu1482Lys)
n.4798G>A
n.4802G>A
n.4801G>A
 dbSNP
6g.38842739G>CCA364003692DNAH8c.4681G>C (p.Glu1561Gln)
c.4030G>C (p.Glu1344Gln)
c.4618G>C (p.Glu1540Gln)
c.4444G>C (p.Glu1482Gln)
n.4798G>C
n.4802G>C
n.4801G>C
6g.38842739G=CA1622424141DNAH8c.4681G= (p.Glu1561=)
c.4030G= (p.Glu1344=)
c.4618G= (p.Glu1540=)
c.4444G= (p.Glu1482=)
n.4798G=
n.4802G=
n.4801G=
6g.38842739G>TCA364003694DNAH8c.4681G>T (p.Glu1561Ter)
c.4030G>T (p.Glu1344Ter)
c.4618G>T (p.Glu1540Ter)
c.4444G>T (p.Glu1482Ter)
n.4798G>T
n.4802G>T
n.4801G>T
6g.38842740A>CCA364003698DNAH8c.4682A>C (p.Glu1561Ala)
c.4031A>C (p.Glu1344Ala)
c.4619A>C (p.Glu1540Ala)
c.4445A>C (p.Glu1482Ala)
n.4799A>C
n.4803A>C
n.4802A>C
6g.38842740A>GCA364003700DNAH8c.4682A>G (p.Glu1561Gly)
c.4031A>G (p.Glu1344Gly)
c.4619A>G (p.Glu1540Gly)
c.4445A>G (p.Glu1482Gly)
n.4799A>G
n.4803A>G
n.4802A>G
6g.38842740A>TCA364003697DNAH8c.4682A>T (p.Glu1561Val)
c.4031A>T (p.Glu1344Val)
c.4619A>T (p.Glu1540Val)
c.4445A>T (p.Glu1482Val)
n.4799A>T
n.4803A>T
n.4802A>T
6g.38842741G>ACA450134108DNAH8c.4683G>A (p.Glu1561=)
c.4032G>A (p.Glu1344=)
c.4620G>A (p.Glu1540=)
c.4446G>A (p.Glu1482=)
n.4800G>A
n.4804G>A
n.4803G>A
6g.38842741G>CCA364003702DNAH8c.4683G>C (p.Glu1561Asp)
c.4032G>C (p.Glu1344Asp)
c.4620G>C (p.Glu1540Asp)
c.4446G>C (p.Glu1482Asp)
n.4800G>C
n.4804G>C
n.4803G>C
 dbSNP gnomAD v2 gnomAD v4
6g.38842741G=CA1622424143DNAH8c.4683G= (p.Glu1561=)
c.4032G= (p.Glu1344=)
c.4620G= (p.Glu1540=)
c.4446G= (p.Glu1482=)
n.4800G=
n.4804G=
n.4803G=
6g.38842741G>TCA364003703DNAH8c.4683G>T (p.Glu1561Asp)
c.4032G>T (p.Glu1344Asp)
c.4620G>T (p.Glu1540Asp)
c.4446G>T (p.Glu1482Asp)
n.4800G>T
n.4804G>T
n.4803G>T
6g.38842742T>ACA364003705DNAH8c.4684T>A (p.Ser1562Thr)
c.4033T>A (p.Ser1345Thr)
c.4621T>A (p.Ser1541Thr)
c.4447T>A (p.Ser1483Thr)
n.4801T>A
n.4805T>A
n.4804T>A
 dbSNP gnomAD v4
6g.38842742T>CCA364003707DNAH8c.4684T>C (p.Ser1562Pro)
c.4033T>C (p.Ser1345Pro)
c.4621T>C (p.Ser1541Pro)
c.4447T>C (p.Ser1483Pro)
n.4801T>C
n.4805T>C
n.4804T>C
6g.38842742T>GCA364003708DNAH8c.4684T>G (p.Ser1562Ala)
c.4033T>G (p.Ser1345Ala)
c.4621T>G (p.Ser1541Ala)
c.4447T>G (p.Ser1483Ala)
n.4801T>G
n.4805T>G
n.4804T>G
6g.38842742T=CA1622424145DNAH8c.4684T= (p.Ser1562=)
c.4033T= (p.Ser1345=)
c.4621T= (p.Ser1541=)
c.4447T= (p.Ser1483=)
n.4801T=
n.4805T=
n.4804T=
6g.38842743C>ACA364003715DNAH8c.4685C>A (p.Ser1562Ter)
c.4034C>A (p.Ser1345Ter)
c.4622C>A (p.Ser1541Ter)
c.4448C>A (p.Ser1483Ter)
n.4802C>A
n.4806C>A
n.4805C>A
 gnomAD v4
6g.38842743C=CA1622424149DNAH8c.4685C= (p.Ser1562=)
c.4034C= (p.Ser1345=)
c.4622C= (p.Ser1541=)
c.4448C= (p.Ser1483=)
n.4802C=
n.4806C=
n.4805C=
6g.38842743C>GCA364003711DNAH8c.4685C>G (p.Ser1562Ter)
c.4034C>G (p.Ser1345Ter)
c.4622C>G (p.Ser1541Ter)
c.4448C>G (p.Ser1483Ter)
n.4802C>G
n.4806C>G
n.4805C>G
 dbSNP gnomAD v2 gnomAD v4
6g.38842743C>TCA364003712DNAH8c.4685C>T (p.Ser1562Leu)
c.4034C>T (p.Ser1345Leu)
c.4622C>T (p.Ser1541Leu)
c.4448C>T (p.Ser1483Leu)
n.4802C>T
n.4806C>T
n.4805C>T
 gnomAD v4 COSMIC COSMIC COSMIC
6g.38842744A>CCA450134109DNAH8c.4686A>C (p.Ser1562=)
c.4035A>C (p.Ser1345=)
c.4623A>C (p.Ser1541=)
c.4449A>C (p.Ser1483=)
n.4803A>C
n.4807A>C
n.4806A>C
6g.38842744A>GCA450134110DNAH8c.4686A>G (p.Ser1562=)
c.4035A>G (p.Ser1345=)
c.4623A>G (p.Ser1541=)
c.4449A>G (p.Ser1483=)
n.4803A>G
n.4807A>G
n.4806A>G
6g.38842744A>TCA450134111DNAH8c.4686A>T (p.Ser1562=)
c.4035A>T (p.Ser1345=)
c.4623A>T (p.Ser1541=)
c.4449A>T (p.Ser1483=)
n.4803A>T
n.4807A>T
n.4806A>T
 gnomAD v4
6g.38842745T>ACA364003719DNAH8c.4687T>A (p.Cys1563Ser)
c.4036T>A (p.Cys1346Ser)
c.4624T>A (p.Cys1542Ser)
c.4450T>A (p.Cys1484Ser)
n.4804T>A
n.4808T>A
n.4807T>A
 gnomAD v4
6g.38842745T>CCA364003722DNAH8c.4687T>C (p.Cys1563Arg)
c.4036T>C (p.Cys1346Arg)
c.4624T>C (p.Cys1542Arg)
c.4450T>C (p.Cys1484Arg)
n.4804T>C
n.4808T>C
n.4807T>C
 dbSNP gnomAD v2 gnomAD v4
6g.38842745T>GCA364003726DNAH8c.4687T>G (p.Cys1563Gly)
c.4036T>G (p.Cys1346Gly)
c.4624T>G (p.Cys1542Gly)
c.4450T>G (p.Cys1484Gly)
n.4804T>G
n.4808T>G
n.4807T>G
6g.38842745T=CA1622424153DNAH8c.4687T= (p.Cys1563=)
c.4036T= (p.Cys1346=)
c.4624T= (p.Cys1542=)
c.4450T= (p.Cys1484=)
n.4804T=
n.4808T=
n.4807T=
6g.38842746G>ACA364003729DNAH8c.4688G>A (p.Cys1563Tyr)
c.4037G>A (p.Cys1346Tyr)
c.4625G>A (p.Cys1542Tyr)
c.4451G>A (p.Cys1484Tyr)
n.4805G>A
n.4809G>A
n.4808G>A
 gnomAD v4
6g.38842746G>CCA364003732DNAH8c.4688G>C (p.Cys1563Ser)
c.4037G>C (p.Cys1346Ser)
c.4625G>C (p.Cys1542Ser)
c.4451G>C (p.Cys1484Ser)
n.4805G>C
n.4809G>C
n.4808G>C
6g.38842746G>TCA364003736DNAH8c.4688G>T (p.Cys1563Phe)
c.4037G>T (p.Cys1346Phe)
c.4625G>T (p.Cys1542Phe)
c.4451G>T (p.Cys1484Phe)
n.4805G>T
n.4809G>T
n.4808G>T
6g.38842747T>ACA364003739DNAH8c.4689T>A (p.Cys1563Ter)
c.4038T>A (p.Cys1346Ter)
c.4626T>A (p.Cys1542Ter)
c.4452T>A (p.Cys1484Ter)
n.4806T>A
n.4810T>A
n.4809T>A
6g.38842747T>CCA450134112DNAH8c.4689T>C (p.Cys1563=)
c.4038T>C (p.Cys1346=)
c.4626T>C (p.Cys1542=)
c.4452T>C (p.Cys1484=)
n.4806T>C
n.4810T>C
n.4809T>C
 dbSNP
6g.38842747T>GCA364003743DNAH8c.4689T>G (p.Cys1563Trp)
c.4038T>G (p.Cys1346Trp)
c.4626T>G (p.Cys1542Trp)
c.4452T>G (p.Cys1484Trp)
n.4806T>G
n.4810T>G
n.4809T>G
6g.38842748C>ACA364003747DNAH8c.4690C>A (p.Pro1564Thr)
c.4039C>A (p.Pro1347Thr)
c.4627C>A (p.Pro1543Thr)
c.4453C>A (p.Pro1485Thr)
n.4807C>A
n.4811C>A
n.4810C>A
6g.38842748C=CA1622424155DNAH8c.4690C= (p.Pro1564=)
c.4039C= (p.Pro1347=)
c.4627C= (p.Pro1543=)
c.4453C= (p.Pro1485=)
n.4807C=
n.4811C=
n.4810C=
6g.38842748C>GCA364003750DNAH8c.4690C>G (p.Pro1564Ala)
c.4039C>G (p.Pro1347Ala)
c.4627C>G (p.Pro1543Ala)
c.4453C>G (p.Pro1485Ala)
n.4807C>G
n.4811C>G
n.4810C>G
6g.38842748C>TCA3789192DNAH8c.4690C>T (p.Pro1564Ser)
c.4039C>T (p.Pro1347Ser)
c.4627C>T (p.Pro1543Ser)
c.4453C>T (p.Pro1485Ser)
n.4807C>T
n.4811C>T
n.4810C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.38842749C>ACA364003756DNAH8c.4691C>A (p.Pro1564His)
c.4040C>A (p.Pro1347His)
c.4628C>A (p.Pro1543His)
c.4454C>A (p.Pro1485His)
n.4808C>A
n.4812C>A
n.4811C>A
6g.38842749C=CA1622424159DNAH8c.4691C= (p.Pro1564=)
c.4040C= (p.Pro1347=)
c.4628C= (p.Pro1543=)
c.4454C= (p.Pro1485=)
n.4808C=
n.4812C=
n.4811C=
6g.38842749C>GCA364003759DNAH8c.4691C>G (p.Pro1564Arg)
c.4040C>G (p.Pro1347Arg)
c.4628C>G (p.Pro1543Arg)
c.4454C>G (p.Pro1485Arg)
n.4808C>G
n.4812C>G
n.4811C>G
6g.38842749C>TCA364003760DNAH8c.4691C>T (p.Pro1564Leu)
c.4040C>T (p.Pro1347Leu)
c.4628C>T (p.Pro1543Leu)
c.4454C>T (p.Pro1485Leu)
n.4808C>T
n.4812C>T
n.4811C>T
 dbSNP
6g.38842750T>ACA450134113DNAH8c.4692T>A (p.Pro1564=)
c.4041T>A (p.Pro1347=)
c.4629T>A (p.Pro1543=)
c.4455T>A (p.Pro1485=)
n.4809T>A
n.4813T>A
n.4812T>A
6g.38842750T>CCA450134114DNAH8c.4692T>C (p.Pro1564=)
c.4041T>C (p.Pro1347=)
c.4629T>C (p.Pro1543=)
c.4455T>C (p.Pro1485=)
n.4809T>C
n.4813T>C
n.4812T>C
6g.38842750T>GCA450134115DNAH8c.4692T>G (p.Pro1564=)
c.4041T>G (p.Pro1347=)
c.4629T>G (p.Pro1543=)
c.4455T>G (p.Pro1485=)
n.4809T>G
n.4813T>G
n.4812T>G
 dbSNP
6g.38842750T=CA1622424162DNAH8c.4692T= (p.Pro1564=)
c.4041T= (p.Pro1347=)
c.4629T= (p.Pro1543=)
c.4455T= (p.Pro1485=)
n.4809T=
n.4813T=
n.4812T=
6g.38842751C>ACA364003762DNAH8c.4693C>A (p.Leu1565Ile)
c.4042C>A (p.Leu1348Ile)
c.4630C>A (p.Leu1544Ile)
c.4456C>A (p.Leu1486Ile)
n.4810C>A
n.4814C>A
n.4813C>A
6g.38842751C=CA1622424164DNAH8c.4693C= (p.Leu1565=)
c.4042C= (p.Leu1348=)
c.4630C= (p.Leu1544=)
c.4456C= (p.Leu1486=)
n.4810C=
n.4814C=
n.4813C=
6g.38842751C>GCA364003761DNAH8c.4693C>G (p.Leu1565Val)
c.4042C>G (p.Leu1348Val)
c.4630C>G (p.Leu1544Val)
c.4456C>G (p.Leu1486Val)
n.4810C>G
n.4814C>G
n.4813C>G
 gnomAD v4
6g.38842751C>TCA3789193DNAH8c.4693C>T (p.Leu1565=)
c.4042C>T (p.Leu1348=)
c.4630C>T (p.Leu1544=)
c.4456C>T (p.Leu1486=)
n.4810C>T
n.4814C>T
n.4813C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.38842753_38842755delCA2770720186DNAH8c.4695_4697del (p.Leu1566del)
c.4044_4046del (p.Leu1349del)
c.4632_4634del (p.Leu1545del)
c.4458_4460del (p.Leu1487del)
n.4812_4814del
n.4816_4818del
n.4815_4817del
6g.38842752T>ACA364003766DNAH8c.4694T>A (p.Leu1565Gln)
c.4043T>A (p.Leu1348Gln)
c.4631T>A (p.Leu1544Gln)
c.4457T>A (p.Leu1486Gln)
n.4811T>A
n.4815T>A
n.4814T>A
6g.38842752T>CCA364003768DNAH8c.4694T>C (p.Leu1565Pro)
c.4043T>C (p.Leu1348Pro)
c.4631T>C (p.Leu1544Pro)
c.4457T>C (p.Leu1486Pro)
n.4811T>C
n.4815T>C
n.4814T>C
 dbSNP gnomAD v2 gnomAD v4
6g.38842752T>GCA364003771DNAH8c.4694T>G (p.Leu1565Arg)
c.4043T>G (p.Leu1348Arg)
c.4631T>G (p.Leu1544Arg)
c.4457T>G (p.Leu1486Arg)
n.4811T>G
n.4815T>G
n.4814T>G
6g.38842752T=CA1622424168DNAH8c.4694T= (p.Leu1565=)
c.4043T= (p.Leu1348=)
c.4631T= (p.Leu1544=)
c.4457T= (p.Leu1486=)
n.4811T=
n.4815T=
n.4814T=
6g.38842753A=CA1622424172DNAH8c.4695A= (p.Leu1565=)
c.4044A= (p.Leu1348=)
c.4632A= (p.Leu1544=)
c.4458A= (p.Leu1486=)
n.4812A=
n.4816A=
n.4815A=
6g.38842753A>CCA450134116DNAH8c.4695A>C (p.Leu1565=)
c.4044A>C (p.Leu1348=)
c.4632A>C (p.Leu1544=)
c.4458A>C (p.Leu1486=)
n.4812A>C
n.4816A>C
n.4815A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.38842753A>GCA3789194DNAH8c.4695A>G (p.Leu1565=)
c.4044A>G (p.Leu1348=)
c.4632A>G (p.Leu1544=)
c.4458A>G (p.Leu1486=)
n.4812A>G
n.4816A>G
n.4815A>G
 dbSNP ExAC gnomAD v2
6g.38842753A>TCA450134117DNAH8c.4695A>T (p.Leu1565=)
c.4044A>T (p.Leu1348=)
c.4632A>T (p.Leu1544=)
c.4458A>T (p.Leu1486=)
n.4812A>T
n.4816A>T
n.4815A>T
6g.38842754C>ACA364003777DNAH8c.4696C>A (p.Leu1566Met)
c.4045C>A (p.Leu1349Met)
c.4633C>A (p.Leu1545Met)
c.4459C>A (p.Leu1487Met)
n.4813C>A
n.4817C>A
n.4816C>A
6g.38842754C=CA1622424174DNAH8c.4696C= (p.Leu1566=)
c.4045C= (p.Leu1349=)
c.4633C= (p.Leu1545=)
c.4459C= (p.Leu1487=)
n.4813C=
n.4817C=
n.4816C=
6g.38842754C>GCA364003780DNAH8c.4696C>G (p.Leu1566Val)
c.4045C>G (p.Leu1349Val)
c.4633C>G (p.Leu1545Val)
c.4459C>G (p.Leu1487Val)
n.4813C>G
n.4817C>G
n.4816C>G
6g.38842754C>TCA450134118DNAH8c.4696C>T (p.Leu1566=)
c.4045C>T (p.Leu1349=)
c.4633C>T (p.Leu1545=)
c.4459C>T (p.Leu1487=)
n.4813C>T
n.4817C>T
n.4816C>T
 dbSNP gnomAD v4
6g.38842755T>ACA364003781DNAH8c.4697T>A (p.Leu1566Gln)
c.4046T>A (p.Leu1349Gln)
c.4634T>A (p.Leu1545Gln)
c.4460T>A (p.Leu1487Gln)
n.4814T>A
n.4818T>A
n.4817T>A
6g.38842755T>CCA364003783DNAH8c.4697T>C (p.Leu1566Pro)
c.4046T>C (p.Leu1349Pro)
c.4634T>C (p.Leu1545Pro)
c.4460T>C (p.Leu1487Pro)
n.4814T>C
n.4818T>C
n.4817T>C
 gnomAD v4
6g.38842755T>GCA364003782DNAH8c.4697T>G (p.Leu1566Arg)
c.4046T>G (p.Leu1349Arg)
c.4634T>G (p.Leu1545Arg)
c.4460T>G (p.Leu1487Arg)
n.4814T>G
n.4818T>G
n.4817T>G
6g.38842756G>ACA450134120DNAH8c.4698G>A (p.Leu1566=)
c.4047G>A (p.Leu1349=)
c.4635G>A (p.Leu1545=)
c.4461G>A (p.Leu1487=)
n.4815G>A
n.4819G>A
n.4818G>A
 dbSNP
6g.38842756G>CCA450134121DNAH8c.4698G>C (p.Leu1566=)
c.4047G>C (p.Leu1349=)
c.4635G>C (p.Leu1545=)
c.4461G>C (p.Leu1487=)
n.4815G>C
n.4819G>C
n.4818G>C
6g.38842756G>TCA450134119DNAH8c.4698G>T (p.Leu1566=)
c.4047G>T (p.Leu1349=)
c.4635G>T (p.Leu1545=)
c.4461G>T (p.Leu1487=)
n.4815G>T
n.4819G>T
n.4818G>T
 gnomAD v4
6g.38842757G>ACA364003785DNAH8c.4699G>A (p.Glu1567Lys)
c.4048G>A (p.Glu1350Lys)
c.4636G>A (p.Glu1546Lys)
c.4462G>A (p.Glu1488Lys)
n.4816G>A
n.4820G>A
n.4819G>A
 COSMIC COSMIC COSMIC
6g.38842757G>CCA364003795DNAH8c.4699G>C (p.Glu1567Gln)
c.4048G>C (p.Glu1350Gln)
c.4636G>C (p.Glu1546Gln)
c.4462G>C (p.Glu1488Gln)
n.4816G>C
n.4820G>C
n.4819G>C
6g.38842757G>TCA364003798DNAH8c.4699G>T (p.Glu1567Ter)
c.4048G>T (p.Glu1350Ter)
c.4636G>T (p.Glu1546Ter)
c.4462G>T (p.Glu1488Ter)
n.4816G>T
n.4820G>T
n.4819G>T
6g.38842758A=CA1622424178DNAH8c.4700A= (p.Glu1567=)
c.4049A= (p.Glu1350=)
c.4637A= (p.Glu1546=)
c.4463A= (p.Glu1488=)
n.4817A=
n.4821A=
n.4820A=
6g.38842758A>CCA364003802DNAH8c.4700A>C (p.Glu1567Ala)
c.4049A>C (p.Glu1350Ala)
c.4637A>C (p.Glu1546Ala)
c.4463A>C (p.Glu1488Ala)
n.4817A>C
n.4821A>C
n.4820A>C
 ClinVar dbSNP gnomAD v4
6g.38842758A>GCA364003805DNAH8c.4700A>G (p.Glu1567Gly)
c.4049A>G (p.Glu1350Gly)
c.4637A>G (p.Glu1546Gly)
c.4463A>G (p.Glu1488Gly)
n.4817A>G
n.4821A>G
n.4820A>G
6g.38842758A>TCA364003809DNAH8c.4700A>T (p.Glu1567Val)
c.4049A>T (p.Glu1350Val)
c.4637A>T (p.Glu1546Val)
c.4463A>T (p.Glu1488Val)
n.4817A>T
n.4821A>T
n.4820A>T
6g.38842759A>CCA364003814DNAH8c.4701A>C (p.Glu1567Asp)
c.4050A>C (p.Glu1350Asp)
c.4638A>C (p.Glu1546Asp)
c.4464A>C (p.Glu1488Asp)
n.4818A>C
n.4822A>C
n.4821A>C
6g.38842759A>GCA450134122DNAH8c.4701A>G (p.Glu1567=)
c.4050A>G (p.Glu1350=)
c.4638A>G (p.Glu1546=)
c.4464A>G (p.Glu1488=)
n.4818A>G
n.4822A>G
n.4821A>G
6g.38842759A>TCA364003823DNAH8c.4701A>T (p.Glu1567Asp)
c.4050A>T (p.Glu1350Asp)
c.4638A>T (p.Glu1546Asp)
c.4464A>T (p.Glu1488Asp)
n.4818A>T
n.4822A>T
n.4821A>T
6g.38842760A>CCA364003827DNAH8c.4702A>C (p.Met1568Leu)
c.4051A>C (p.Met1351Leu)
c.4639A>C (p.Met1547Leu)
c.4465A>C (p.Met1489Leu)
n.4819A>C
n.4823A>C
n.4822A>C
6g.38842760A>GCA364003829DNAH8c.4702A>G (p.Met1568Val)
c.4051A>G (p.Met1351Val)
c.4639A>G (p.Met1547Val)
c.4465A>G (p.Met1489Val)
n.4819A>G
n.4823A>G
n.4822A>G
6g.38842760A>TCA364003832DNAH8c.4702A>T (p.Met1568Leu)
c.4051A>T (p.Met1351Leu)
c.4639A>T (p.Met1547Leu)
c.4465A>T (p.Met1489Leu)
n.4819A>T
n.4823A>T
n.4822A>T
6g.38842761T>ACA364003833DNAH8c.4703T>A (p.Met1568Lys)
c.4052T>A (p.Met1351Lys)
c.4640T>A (p.Met1547Lys)
c.4466T>A (p.Met1489Lys)
n.4820T>A
n.4824T>A
n.4823T>A
6g.38842761T>CCA364003839DNAH8c.4703T>C (p.Met1568Thr)
c.4052T>C (p.Met1351Thr)
c.4640T>C (p.Met1547Thr)
c.4466T>C (p.Met1489Thr)
n.4820T>C
n.4824T>C
n.4823T>C
 gnomAD v4
6g.38842761T>GCA364003836DNAH8c.4703T>G (p.Met1568Arg)
c.4052T>G (p.Met1351Arg)
c.4640T>G (p.Met1547Arg)
c.4466T>G (p.Met1489Arg)
n.4820T>G
n.4824T>G
n.4823T>G
6g.38842762G>ACA364003841DNAH8c.4704G>A (p.Met1568Ile)
c.4053G>A (p.Met1351Ile)
c.4641G>A (p.Met1547Ile)
c.4467G>A (p.Met1489Ile)
n.4821G>A
n.4825G>A
n.4824G>A
 gnomAD v4
6g.38842762G>CCA364003845DNAH8c.4704G>C (p.Met1568Ile)
c.4053G>C (p.Met1351Ile)
c.4641G>C (p.Met1547Ile)
c.4467G>C (p.Met1489Ile)
n.4821G>C
n.4825G>C
n.4824G>C
6g.38842762G>TCA364003843DNAH8c.4704G>T (p.Met1568Ile)
c.4053G>T (p.Met1351Ile)
c.4641G>T (p.Met1547Ile)
c.4467G>T (p.Met1489Ile)
n.4821G>T
n.4825G>T
n.4824G>T
6g.38842763A>CCA364003847DNAH8c.4705A>C (p.Met1569Leu)
c.4054A>C (p.Met1352Leu)
c.4642A>C (p.Met1548Leu)
c.4468A>C (p.Met1490Leu)
n.4822A>C
n.4826A>C
n.4825A>C
6g.38842763A>GCA364003849DNAH8c.4705A>G (p.Met1569Val)
c.4054A>G (p.Met1352Val)
c.4642A>G (p.Met1548Val)
c.4468A>G (p.Met1490Val)
n.4822A>G
n.4826A>G
n.4825A>G
6g.38842763A>TCA364003852DNAH8c.4705A>T (p.Met1569Leu)
c.4054A>T (p.Met1352Leu)
c.4642A>T (p.Met1548Leu)
c.4468A>T (p.Met1490Leu)
n.4822A>T
n.4826A>T
n.4825A>T
6g.38842764T>ACA364003854DNAH8c.4706T>A (p.Met1569Lys)
c.4055T>A (p.Met1352Lys)
c.4643T>A (p.Met1548Lys)
c.4469T>A (p.Met1490Lys)
n.4823T>A
n.4827T>A
n.4826T>A
 gnomAD v4
6g.38842764T>CCA364003855DNAH8c.4706T>C (p.Met1569Thr)
c.4055T>C (p.Met1352Thr)
c.4643T>C (p.Met1548Thr)
c.4469T>C (p.Met1490Thr)
n.4823T>C
n.4827T>C
n.4826T>C
 dbSNP
6g.38842764T>GCA364003856DNAH8c.4706T>G (p.Met1569Arg)
c.4055T>G (p.Met1352Arg)
c.4643T>G (p.Met1548Arg)
c.4469T>G (p.Met1490Arg)
n.4823T>G
n.4827T>G
n.4826T>G
6g.38842764T=CA1622424180DNAH8c.4706T= (p.Met1569=)
c.4055T= (p.Met1352=)
c.4643T= (p.Met1548=)
c.4469T= (p.Met1490=)
n.4823T=
n.4827T=
n.4826T=
6g.38842765G>ACA364003857DNAH8c.4707G>A (p.Met1569Ile)
c.4056G>A (p.Met1352Ile)
c.4644G>A (p.Met1548Ile)
c.4470G>A (p.Met1490Ile)
n.4824G>A
n.4828G>A
n.4827G>A
 COSMIC COSMIC COSMIC
6g.38842765G>CCA364003858DNAH8c.4707G>C (p.Met1569Ile)
c.4056G>C (p.Met1352Ile)
c.4644G>C (p.Met1548Ile)
c.4470G>C (p.Met1490Ile)
n.4824G>C
n.4828G>C
n.4827G>C
6g.38842765G>TCA364003861DNAH8c.4707G>T (p.Met1569Ile)
c.4056G>T (p.Met1352Ile)
c.4644G>T (p.Met1548Ile)
c.4470G>T (p.Met1490Ile)
n.4824G>T
n.4828G>T
n.4827G>T
6g.38842766A>CCA364003865DNAH8c.4708A>C (p.Thr1570Pro)
c.4057A>C (p.Thr1353Pro)
c.4645A>C (p.Thr1549Pro)
c.4471A>C (p.Thr1491Pro)
n.4825A>C
n.4829A>C
n.4828A>C
6g.38842766A>GCA364003867DNAH8c.4708A>G (p.Thr1570Ala)
c.4057A>G (p.Thr1353Ala)
c.4645A>G (p.Thr1549Ala)
c.4471A>G (p.Thr1491Ala)
n.4825A>G
n.4829A>G
n.4828A>G
 gnomAD v4
6g.38842766A>TCA364003868DNAH8c.4708A>T (p.Thr1570Ser)
c.4057A>T (p.Thr1353Ser)
c.4645A>T (p.Thr1549Ser)
c.4471A>T (p.Thr1491Ser)
n.4825A>T
n.4829A>T
n.4828A>T
6g.38842767C>ACA364003876DNAH8c.4709C>A (p.Thr1570Asn)
c.4058C>A (p.Thr1353Asn)
c.4646C>A (p.Thr1549Asn)
c.4472C>A (p.Thr1491Asn)
n.4826C>A
n.4830C>A
n.4829C>A
6g.38842767C>GCA364003871DNAH8c.4709C>G (p.Thr1570Ser)
c.4058C>G (p.Thr1353Ser)
c.4646C>G (p.Thr1549Ser)
c.4472C>G (p.Thr1491Ser)
n.4826C>G
n.4830C>G
n.4829C>G
6g.38842767C>TCA364003873DNAH8c.4709C>T (p.Thr1570Ile)
c.4058C>T (p.Thr1353Ile)
c.4646C>T (p.Thr1549Ile)
c.4472C>T (p.Thr1491Ile)
n.4826C>T
n.4830C>T
n.4829C>T
6g.38842768C>ACA450134123DNAH8c.4710C>A (p.Thr1570=)
c.4059C>A (p.Thr1353=)
c.4647C>A (p.Thr1549=)
c.4473C>A (p.Thr1491=)
n.4827C>A
n.4831C>A
n.4830C>A
6g.38842768C=CA1622424183DNAH8c.4710C= (p.Thr1570=)
c.4059C= (p.Thr1353=)
c.4647C= (p.Thr1549=)
c.4473C= (p.Thr1491=)
n.4827C=
n.4831C=
n.4830C=
6g.38842768C>GCA450134125DNAH8c.4710C>G (p.Thr1570=)
c.4059C>G (p.Thr1353=)
c.4647C>G (p.Thr1549=)
c.4473C>G (p.Thr1491=)
n.4827C>G
n.4831C>G
n.4830C>G
6g.38842768C>TCA450134124DNAH8c.4710C>T (p.Thr1570=)
c.4059C>T (p.Thr1353=)
c.4647C>T (p.Thr1549=)
c.4473C>T (p.Thr1491=)
n.4827C>T
n.4831C>T
n.4830C>T
 dbSNP gnomAD v3 gnomAD v4
6g.38842769A=CA1622424185DNAH8c.4711A= (p.Asn1571=)
c.4060A= (p.Asn1354=)
c.4648A= (p.Asn1550=)
c.4474A= (p.Asn1492=)
n.4828A=
n.4832A=
n.4831A=
6g.38842769A>CCA364003879DNAH8c.4711A>C (p.Asn1571His)
c.4060A>C (p.Asn1354His)
c.4648A>C (p.Asn1550His)
c.4474A>C (p.Asn1492His)
n.4828A>C
n.4832A>C
n.4831A>C
 gnomAD v4
6g.38842769A>GCA364003881DNAH8c.4711A>G (p.Asn1571Asp)
c.4060A>G (p.Asn1354Asp)
c.4648A>G (p.Asn1550Asp)
c.4474A>G (p.Asn1492Asp)
n.4828A>G
n.4832A>G
n.4831A>G
 dbSNP gnomAD v2 gnomAD v4
6g.38842769A>TCA364003882DNAH8c.4711A>T (p.Asn1571Tyr)
c.4060A>T (p.Asn1354Tyr)
c.4648A>T (p.Asn1550Tyr)
c.4474A>T (p.Asn1492Tyr)
n.4828A>T
n.4832A>T
n.4831A>T
6g.38842770A=CA1622424188DNAH8c.4712A= (p.Asn1571=)
c.4061A= (p.Asn1354=)
c.4649A= (p.Asn1550=)
c.4475A= (p.Asn1492=)
n.4829A=
n.4833A=
n.4832A=
6g.38842770A>CCA364003884DNAH8c.4712A>C (p.Asn1571Thr)
c.4061A>C (p.Asn1354Thr)
c.4649A>C (p.Asn1550Thr)
c.4475A>C (p.Asn1492Thr)
n.4829A>C
n.4833A>C
n.4832A>C
6g.38842770A>GCA364003885DNAH8c.4712A>G (p.Asn1571Ser)
c.4061A>G (p.Asn1354Ser)
c.4649A>G (p.Asn1550Ser)
c.4475A>G (p.Asn1492Ser)
n.4829A>G
n.4833A>G
n.4832A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.38842770A>TCA364003886DNAH8c.4712A>T (p.Asn1571Ile)
c.4061A>T (p.Asn1354Ile)
c.4649A>T (p.Asn1550Ile)
c.4475A>T (p.Asn1492Ile)
n.4829A>T
n.4833A>T
n.4832A>T
6g.38842771T>ACA364003887DNAH8c.4713T>A (p.Asn1571Lys)
c.4062T>A (p.Asn1354Lys)
c.4650T>A (p.Asn1550Lys)
c.4476T>A (p.Asn1492Lys)
n.4830T>A
n.4834T>A
n.4833T>A
6g.38842771T>CCA450134126DNAH8c.4713T>C (p.Asn1571=)
c.4062T>C (p.Asn1354=)
c.4650T>C (p.Asn1550=)
c.4476T>C (p.Asn1492=)
n.4830T>C
n.4834T>C
n.4833T>C
6g.38842771T>GCA364003888DNAH8c.4713T>G (p.Asn1571Lys)
c.4062T>G (p.Asn1354Lys)
c.4650T>G (p.Asn1550Lys)
c.4476T>G (p.Asn1492Lys)
n.4830T>G
n.4834T>G
n.4833T>G
 dbSNP gnomAD v2 gnomAD v4
6g.38842771T=CA1622424191DNAH8c.4713T= (p.Asn1571=)
c.4062T= (p.Asn1354=)
c.4650T= (p.Asn1550=)
c.4476T= (p.Asn1492=)
n.4830T=
n.4834T=
n.4833T=
6g.38842772A>CCA364003890DNAH8c.4714A>C (p.Lys1572Gln)
c.4063A>C (p.Lys1355Gln)
c.4651A>C (p.Lys1551Gln)
c.4477A>C (p.Lys1493Gln)
n.4831A>C
n.4835A>C
n.4834A>C
6g.38842772A>GCA364003892DNAH8c.4714A>G (p.Lys1572Glu)
c.4063A>G (p.Lys1355Glu)
c.4651A>G (p.Lys1551Glu)
c.4477A>G (p.Lys1493Glu)
n.4831A>G
n.4835A>G
n.4834A>G
 gnomAD v4
6g.38842772A>TCA364003893DNAH8c.4714A>T (p.Lys1572Ter)
c.4063A>T (p.Lys1355Ter)
c.4651A>T (p.Lys1551Ter)
c.4477A>T (p.Lys1493Ter)
n.4831A>T
n.4835A>T
n.4834A>T

Number of alleles fetched