Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13735198C>ACA3201872DNAH5c.11694G>T (p.Leu3898Phe)
c.11649G>T (p.Leu3883Phe)
c.11802G>T (p.Leu3934Phe)
c.10707G>T (p.Leu3569Phe)
c.6891G>T (p.Leu2297Phe)
c.6444G>T (p.Leu2148Phe)
c.5781G>T (p.Leu1927Phe)
c.10296G>T (p.Leu3432Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735198C=CA1528414830DNAH5c.11694G= (p.Leu3898=)
c.11649G= (p.Leu3883=)
c.11802G= (p.Leu3934=)
c.10707G= (p.Leu3569=)
c.6891G= (p.Leu2297=)
c.6444G= (p.Leu2148=)
c.5781G= (p.Leu1927=)
c.10296G= (p.Leu3432=)
5g.13735198C>GCA113926929DNAH5c.11694G>C (p.Leu3898Phe)
c.11649G>C (p.Leu3883Phe)
c.11802G>C (p.Leu3934Phe)
c.10707G>C (p.Leu3569Phe)
c.6891G>C (p.Leu2297Phe)
c.6444G>C (p.Leu2148Phe)
c.5781G>C (p.Leu1927Phe)
c.10296G>C (p.Leu3432Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13735198C>TCA443260007DNAH5c.11694G>A (p.Leu3898=)
c.11649G>A (p.Leu3883=)
c.11802G>A (p.Leu3934=)
c.10707G>A (p.Leu3569=)
c.6891G>A (p.Leu2297=)
c.6444G>A (p.Leu2148=)
c.5781G>A (p.Leu1927=)
c.10296G>A (p.Leu3432=)
5g.13735199A>CCA359223016DNAH5c.11693T>G (p.Leu3898Trp)
c.11648T>G (p.Leu3883Trp)
c.11801T>G (p.Leu3934Trp)
c.10706T>G (p.Leu3569Trp)
c.6890T>G (p.Leu2297Trp)
c.6443T>G (p.Leu2148Trp)
c.5780T>G (p.Leu1927Trp)
c.10295T>G (p.Leu3432Trp)
gnomAD v4
5g.13735199A>GCA359223012DNAH5c.11693T>C (p.Leu3898Ser)
c.11648T>C (p.Leu3883Ser)
c.11801T>C (p.Leu3934Ser)
c.10706T>C (p.Leu3569Ser)
c.6890T>C (p.Leu2297Ser)
c.6443T>C (p.Leu2148Ser)
c.5780T>C (p.Leu1927Ser)
c.10295T>C (p.Leu3432Ser)
5g.13735199A>TCA359223014DNAH5c.11693T>A (p.Leu3898Ter)
c.11648T>A (p.Leu3883Ter)
c.11801T>A (p.Leu3934Ter)
c.10706T>A (p.Leu3569Ter)
c.6890T>A (p.Leu2297Ter)
c.6443T>A (p.Leu2148Ter)
c.5780T>A (p.Leu1927Ter)
c.10295T>A (p.Leu3432Ter)
5g.13735200A>CCA359223020DNAH5c.11692T>G (p.Leu3898Val)
c.11647T>G (p.Leu3883Val)
c.11800T>G (p.Leu3934Val)
c.10705T>G (p.Leu3569Val)
c.6889T>G (p.Leu2297Val)
c.6442T>G (p.Leu2148Val)
c.5779T>G (p.Leu1927Val)
c.10294T>G (p.Leu3432Val)
5g.13735200A>GCA443260008DNAH5c.11692T>C (p.Leu3898=)
c.11647T>C (p.Leu3883=)
c.11800T>C (p.Leu3934=)
c.10705T>C (p.Leu3569=)
c.6889T>C (p.Leu2297=)
c.6442T>C (p.Leu2148=)
c.5779T>C (p.Leu1927=)
c.10294T>C (p.Leu3432=)
5g.13735200A>TCA359223023DNAH5c.11692T>A (p.Leu3898Met)
c.11647T>A (p.Leu3883Met)
c.11800T>A (p.Leu3934Met)
c.10705T>A (p.Leu3569Met)
c.6889T>A (p.Leu2297Met)
c.6442T>A (p.Leu2148Met)
c.5779T>A (p.Leu1927Met)
c.10294T>A (p.Leu3432Met)
5g.13735201C>ACA359223026DNAH5c.11691G>T (p.Leu3897Phe)
c.11646G>T (p.Leu3882Phe)
c.11799G>T (p.Leu3933Phe)
c.10704G>T (p.Leu3568Phe)
c.6888G>T (p.Leu2296Phe)
c.6441G>T (p.Leu2147Phe)
c.5778G>T (p.Leu1926Phe)
c.10293G>T (p.Leu3431Phe)
5g.13735201C>GCA359223027DNAH5c.11691G>C (p.Leu3897Phe)
c.11646G>C (p.Leu3882Phe)
c.11799G>C (p.Leu3933Phe)
c.10704G>C (p.Leu3568Phe)
c.6888G>C (p.Leu2296Phe)
c.6441G>C (p.Leu2147Phe)
c.5778G>C (p.Leu1926Phe)
c.10293G>C (p.Leu3431Phe)
5g.13735201C>TCA443260009DNAH5c.11691G>A (p.Leu3897=)
c.11646G>A (p.Leu3882=)
c.11799G>A (p.Leu3933=)
c.10704G>A (p.Leu3568=)
c.6888G>A (p.Leu2296=)
c.6441G>A (p.Leu2147=)
c.5778G>A (p.Leu1926=)
c.10293G>A (p.Leu3431=)
5g.13735202A>CCA359223029DNAH5c.11690T>G (p.Leu3897Trp)
c.11645T>G (p.Leu3882Trp)
c.11798T>G (p.Leu3933Trp)
c.10703T>G (p.Leu3568Trp)
c.6887T>G (p.Leu2296Trp)
c.6440T>G (p.Leu2147Trp)
c.5777T>G (p.Leu1926Trp)
c.10292T>G (p.Leu3431Trp)
5g.13735202A>GCA359223032DNAH5c.11690T>C (p.Leu3897Ser)
c.11645T>C (p.Leu3882Ser)
c.11798T>C (p.Leu3933Ser)
c.10703T>C (p.Leu3568Ser)
c.6887T>C (p.Leu2296Ser)
c.6440T>C (p.Leu2147Ser)
c.5777T>C (p.Leu1926Ser)
c.10292T>C (p.Leu3431Ser)
5g.13735202A>TCA359223035DNAH5c.11690T>A (p.Leu3897Ter)
c.11645T>A (p.Leu3882Ter)
c.11798T>A (p.Leu3933Ter)
c.10703T>A (p.Leu3568Ter)
c.6887T>A (p.Leu2296Ter)
c.6440T>A (p.Leu2147Ter)
c.5777T>A (p.Leu1926Ter)
c.10292T>A (p.Leu3431Ter)
5g.13735203A>CCA359223036DNAH5c.11689T>G (p.Leu3897Val)
c.11644T>G (p.Leu3882Val)
c.11797T>G (p.Leu3933Val)
c.10702T>G (p.Leu3568Val)
c.6886T>G (p.Leu2296Val)
c.6439T>G (p.Leu2147Val)
c.5776T>G (p.Leu1926Val)
c.10291T>G (p.Leu3431Val)
5g.13735203A>GCA443260011DNAH5c.11689T>C (p.Leu3897=)
c.11644T>C (p.Leu3882=)
c.11797T>C (p.Leu3933=)
c.10702T>C (p.Leu3568=)
c.6886T>C (p.Leu2296=)
c.6439T>C (p.Leu2147=)
c.5776T>C (p.Leu1926=)
c.10291T>C (p.Leu3431=)
5g.13735203A>TCA359223037DNAH5c.11689T>A (p.Leu3897Met)
c.11644T>A (p.Leu3882Met)
c.11797T>A (p.Leu3933Met)
c.10702T>A (p.Leu3568Met)
c.6886T>A (p.Leu2296Met)
c.6439T>A (p.Leu2147Met)
c.5776T>A (p.Leu1926Met)
c.10291T>A (p.Leu3431Met)
5g.13735204G>ACA443260012DNAH5c.11688C>T (p.Thr3896=)
c.11643C>T (p.Thr3881=)
c.11796C>T (p.Thr3932=)
c.10701C>T (p.Thr3567=)
c.6885C>T (p.Thr2295=)
c.6438C>T (p.Thr2146=)
c.5775C>T (p.Thr1925=)
c.10290C>T (p.Thr3430=)
dbSNP gnomAD v2 gnomAD v4
5g.13735204G>CCA443260013DNAH5c.11688C>G (p.Thr3896=)
c.11643C>G (p.Thr3881=)
c.11796C>G (p.Thr3932=)
c.10701C>G (p.Thr3567=)
c.6885C>G (p.Thr2295=)
c.6438C>G (p.Thr2146=)
c.5775C>G (p.Thr1925=)
c.10290C>G (p.Thr3430=)
5g.13735204G=CA1528414831DNAH5c.11688C= (p.Thr3896=)
c.11643C= (p.Thr3881=)
c.11796C= (p.Thr3932=)
c.10701C= (p.Thr3567=)
c.6885C= (p.Thr2295=)
c.6438C= (p.Thr2146=)
c.5775C= (p.Thr1925=)
c.10290C= (p.Thr3430=)
5g.13735204G>TCA443260014DNAH5c.11688C>A (p.Thr3896=)
c.11643C>A (p.Thr3881=)
c.11796C>A (p.Thr3932=)
c.10701C>A (p.Thr3567=)
c.6885C>A (p.Thr2295=)
c.6438C>A (p.Thr2146=)
c.5775C>A (p.Thr1925=)
c.10290C>A (p.Thr3430=)
5g.13735205G>ACA3201873DNAH5c.11687C>T (p.Thr3896Ile)
c.11642C>T (p.Thr3881Ile)
c.11795C>T (p.Thr3932Ile)
c.10700C>T (p.Thr3567Ile)
c.6884C>T (p.Thr2295Ile)
c.6437C>T (p.Thr2146Ile)
c.5774C>T (p.Thr1925Ile)
c.10289C>T (p.Thr3430Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735205G>CCA359223040DNAH5c.11687C>G (p.Thr3896Ser)
c.11642C>G (p.Thr3881Ser)
c.11795C>G (p.Thr3932Ser)
c.10700C>G (p.Thr3567Ser)
c.6884C>G (p.Thr2295Ser)
c.6437C>G (p.Thr2146Ser)
c.5774C>G (p.Thr1925Ser)
c.10289C>G (p.Thr3430Ser)
gnomAD v4
5g.13735205G=CA1528414832DNAH5c.11687C= (p.Thr3896=)
c.11642C= (p.Thr3881=)
c.11795C= (p.Thr3932=)
c.10700C= (p.Thr3567=)
c.6884C= (p.Thr2295=)
c.6437C= (p.Thr2146=)
c.5774C= (p.Thr1925=)
c.10289C= (p.Thr3430=)
5g.13735205G>TCA359223041DNAH5c.11687C>A (p.Thr3896Asn)
c.11642C>A (p.Thr3881Asn)
c.11795C>A (p.Thr3932Asn)
c.10700C>A (p.Thr3567Asn)
c.6884C>A (p.Thr2295Asn)
c.6437C>A (p.Thr2146Asn)
c.5774C>A (p.Thr1925Asn)
c.10289C>A (p.Thr3430Asn)
5g.13735206T>ACA359223042DNAH5c.11686A>T (p.Thr3896Ser)
c.11641A>T (p.Thr3881Ser)
c.11794A>T (p.Thr3932Ser)
c.10699A>T (p.Thr3567Ser)
c.6883A>T (p.Thr2295Ser)
c.6436A>T (p.Thr2146Ser)
c.5773A>T (p.Thr1925Ser)
c.10288A>T (p.Thr3430Ser)
5g.13735206T>CCA3201874DNAH5c.11686A>G (p.Thr3896Ala)
c.11641A>G (p.Thr3881Ala)
c.11794A>G (p.Thr3932Ala)
c.10699A>G (p.Thr3567Ala)
c.6883A>G (p.Thr2295Ala)
c.6436A>G (p.Thr2146Ala)
c.5773A>G (p.Thr1925Ala)
c.10288A>G (p.Thr3430Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13735206T>GCA359223044DNAH5c.11686A>C (p.Thr3896Pro)
c.11641A>C (p.Thr3881Pro)
c.11794A>C (p.Thr3932Pro)
c.10699A>C (p.Thr3567Pro)
c.6883A>C (p.Thr2295Pro)
c.6436A>C (p.Thr2146Pro)
c.5773A>C (p.Thr1925Pro)
c.10288A>C (p.Thr3430Pro)
5g.13735206T=CA1528414833DNAH5c.11686A= (p.Thr3896=)
c.11641A= (p.Thr3881=)
c.11794A= (p.Thr3932=)
c.10699A= (p.Thr3567=)
c.6883A= (p.Thr2295=)
c.6436A= (p.Thr2146=)
c.5773A= (p.Thr1925=)
c.10288A= (p.Thr3430=)
5g.13735207G>ACA443260015DNAH5c.11685C>T (p.Phe3895=)
c.11640C>T (p.Phe3880=)
c.11793C>T (p.Phe3931=)
c.10698C>T (p.Phe3566=)
c.6882C>T (p.Phe2294=)
c.6435C>T (p.Phe2145=)
c.5772C>T (p.Phe1924=)
c.10287C>T (p.Phe3429=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13735207G>CCA3201875DNAH5c.11685C>G (p.Phe3895Leu)
c.11640C>G (p.Phe3880Leu)
c.11793C>G (p.Phe3931Leu)
c.10698C>G (p.Phe3566Leu)
c.6882C>G (p.Phe2294Leu)
c.6435C>G (p.Phe2145Leu)
c.5772C>G (p.Phe1924Leu)
c.10287C>G (p.Phe3429Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735207G=CA1528414834DNAH5c.11685C= (p.Phe3895=)
c.11640C= (p.Phe3880=)
c.11793C= (p.Phe3931=)
c.10698C= (p.Phe3566=)
c.6882C= (p.Phe2294=)
c.6435C= (p.Phe2145=)
c.5772C= (p.Phe1924=)
c.10287C= (p.Phe3429=)
5g.13735207G>TCA359223080DNAH5c.11685C>A (p.Phe3895Leu)
c.11640C>A (p.Phe3880Leu)
c.11793C>A (p.Phe3931Leu)
c.10698C>A (p.Phe3566Leu)
c.6882C>A (p.Phe2294Leu)
c.6435C>A (p.Phe2145Leu)
c.5772C>A (p.Phe1924Leu)
c.10287C>A (p.Phe3429Leu)
5g.13735208A>CCA359223082DNAH5c.11684T>G (p.Phe3895Cys)
c.11639T>G (p.Phe3880Cys)
c.11792T>G (p.Phe3931Cys)
c.10697T>G (p.Phe3566Cys)
c.6881T>G (p.Phe2294Cys)
c.6434T>G (p.Phe2145Cys)
c.5771T>G (p.Phe1924Cys)
c.10286T>G (p.Phe3429Cys)
5g.13735208A>GCA359223083DNAH5c.11684T>C (p.Phe3895Ser)
c.11639T>C (p.Phe3880Ser)
c.11792T>C (p.Phe3931Ser)
c.10697T>C (p.Phe3566Ser)
c.6881T>C (p.Phe2294Ser)
c.6434T>C (p.Phe2145Ser)
c.5771T>C (p.Phe1924Ser)
c.10286T>C (p.Phe3429Ser)
5g.13735208A>TCA359223085DNAH5c.11684T>A (p.Phe3895Tyr)
c.11639T>A (p.Phe3880Tyr)
c.11792T>A (p.Phe3931Tyr)
c.10697T>A (p.Phe3566Tyr)
c.6881T>A (p.Phe2294Tyr)
c.6434T>A (p.Phe2145Tyr)
c.5771T>A (p.Phe1924Tyr)
c.10286T>A (p.Phe3429Tyr)
5g.13735209A>CCA359223087DNAH5c.11683T>G (p.Phe3895Val)
c.11638T>G (p.Phe3880Val)
c.11791T>G (p.Phe3931Val)
c.10696T>G (p.Phe3566Val)
c.6880T>G (p.Phe2294Val)
c.6433T>G (p.Phe2145Val)
c.5770T>G (p.Phe1924Val)
c.10285T>G (p.Phe3429Val)
5g.13735209A>GCA359223091DNAH5c.11683T>C (p.Phe3895Leu)
c.11638T>C (p.Phe3880Leu)
c.11791T>C (p.Phe3931Leu)
c.10696T>C (p.Phe3566Leu)
c.6880T>C (p.Phe2294Leu)
c.6433T>C (p.Phe2145Leu)
c.5770T>C (p.Phe1924Leu)
c.10285T>C (p.Phe3429Leu)
5g.13735209A>TCA359223093DNAH5c.11683T>A (p.Phe3895Ile)
c.11638T>A (p.Phe3880Ile)
c.11791T>A (p.Phe3931Ile)
c.10696T>A (p.Phe3566Ile)
c.6880T>A (p.Phe2294Ile)
c.6433T>A (p.Phe2145Ile)
c.5770T>A (p.Phe1924Ile)
c.10285T>A (p.Phe3429Ile)
5g.13735210C>ACA113926944DNAH5c.11682G>T (p.Leu3894=)
c.11637G>T (p.Leu3879=)
c.11790G>T (p.Leu3930=)
c.10695G>T (p.Leu3565=)
c.6879G>T (p.Leu2293=)
c.6432G>T (p.Leu2144=)
c.5769G>T (p.Leu1923=)
c.10284G>T (p.Leu3428=)
dbSNP
5g.13735210C=CA1528414835DNAH5c.11682G= (p.Leu3894=)
c.11637G= (p.Leu3879=)
c.11790G= (p.Leu3930=)
c.10695G= (p.Leu3565=)
c.6879G= (p.Leu2293=)
c.6432G= (p.Leu2144=)
c.5769G= (p.Leu1923=)
c.10284G= (p.Leu3428=)
5g.13735210C>GCA443260017DNAH5c.11682G>C (p.Leu3894=)
c.11637G>C (p.Leu3879=)
c.11790G>C (p.Leu3930=)
c.10695G>C (p.Leu3565=)
c.6879G>C (p.Leu2293=)
c.6432G>C (p.Leu2144=)
c.5769G>C (p.Leu1923=)
c.10284G>C (p.Leu3428=)
5g.13735210C>TCA443260016DNAH5c.11682G>A (p.Leu3894=)
c.11637G>A (p.Leu3879=)
c.11790G>A (p.Leu3930=)
c.10695G>A (p.Leu3565=)
c.6879G>A (p.Leu2293=)
c.6432G>A (p.Leu2144=)
c.5769G>A (p.Leu1923=)
c.10284G>A (p.Leu3428=)
5g.13735211A=CA1528414836DNAH5c.11681T= (p.Leu3894=)
c.11636T= (p.Leu3879=)
c.11789T= (p.Leu3930=)
c.10694T= (p.Leu3565=)
c.6878T= (p.Leu2293=)
c.6431T= (p.Leu2144=)
c.5768T= (p.Leu1923=)
c.10283T= (p.Leu3428=)
5g.13735211A>CCA359223098DNAH5c.11681T>G (p.Leu3894Arg)
c.11636T>G (p.Leu3879Arg)
c.11789T>G (p.Leu3930Arg)
c.10694T>G (p.Leu3565Arg)
c.6878T>G (p.Leu2293Arg)
c.6431T>G (p.Leu2144Arg)
c.5768T>G (p.Leu1923Arg)
c.10283T>G (p.Leu3428Arg)
5g.13735211A>GCA3201876DNAH5c.11681T>C (p.Leu3894Pro)
c.11636T>C (p.Leu3879Pro)
c.11789T>C (p.Leu3930Pro)
c.10694T>C (p.Leu3565Pro)
c.6878T>C (p.Leu2293Pro)
c.6431T>C (p.Leu2144Pro)
c.5768T>C (p.Leu1923Pro)
c.10283T>C (p.Leu3428Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735211A>TCA3201877DNAH5c.11681T>A (p.Leu3894Gln)
c.11636T>A (p.Leu3879Gln)
c.11789T>A (p.Leu3930Gln)
c.10694T>A (p.Leu3565Gln)
c.6878T>A (p.Leu2293Gln)
c.6431T>A (p.Leu2144Gln)
c.5768T>A (p.Leu1923Gln)
c.10283T>A (p.Leu3428Gln)
dbSNP ExAC
5g.13735212G>ACA443260018DNAH5c.11680C>T (p.Leu3894=)
c.11635C>T (p.Leu3879=)
c.11788C>T (p.Leu3930=)
c.10693C>T (p.Leu3565=)
c.6877C>T (p.Leu2293=)
c.6430C>T (p.Leu2144=)
c.5767C>T (p.Leu1923=)
c.10282C>T (p.Leu3428=)

Number of alleles fetched