Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13735198C>A | CA3201872 | DNAH5 | c.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 |
5 | g.13735198C= | CA1528414830 | DNAH5 | c.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=) | |
5 | g.13735198C>G | CA113926929 | DNAH5 | c.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 |
5 | g.13735198C>T | CA443260007 | DNAH5 | c.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=) | |
5 | g.13735199A>C | CA359223016 | DNAH5 | c.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 |
5 | g.13735199A>G | CA359223012 | DNAH5 | c.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) | |
5 | g.13735199A>T | CA359223014 | DNAH5 | c.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) | |
5 | g.13735200A>C | CA359223020 | DNAH5 | c.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) | |
5 | g.13735200A>G | CA443260008 | DNAH5 | c.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=) | |
5 | g.13735200A>T | CA359223023 | DNAH5 | c.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) | |
5 | g.13735201C>A | CA359223026 | DNAH5 | c.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) | |
5 | g.13735201C>G | CA359223027 | DNAH5 | c.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) | |
5 | g.13735201C>T | CA443260009 | DNAH5 | c.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=) | |
5 | g.13735202A>C | CA359223029 | DNAH5 | c.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) | |
5 | g.13735202A>G | CA359223032 | DNAH5 | c.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) | |
5 | g.13735202A>T | CA359223035 | DNAH5 | c.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) | |
5 | g.13735203A>C | CA359223036 | DNAH5 | c.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) | |
5 | g.13735203A>G | CA443260011 | DNAH5 | c.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=) | |
5 | g.13735203A>T | CA359223037 | DNAH5 | c.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) | |
5 | g.13735204G>A | CA443260012 | DNAH5 | c.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 |
5 | g.13735204G>C | CA443260013 | DNAH5 | c.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=) | |
5 | g.13735204G= | CA1528414831 | DNAH5 | c.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=) | |
5 | g.13735204G>T | CA443260014 | DNAH5 | c.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=) | |
5 | g.13735205G>A | CA3201873 | DNAH5 | c.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 |
5 | g.13735205G>C | CA359223040 | DNAH5 | c.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 |
5 | g.13735205G= | CA1528414832 | DNAH5 | c.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=) | |
5 | g.13735205G>T | CA359223041 | DNAH5 | c.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) | |
5 | g.13735206T>A | CA359223042 | DNAH5 | c.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) | |
5 | g.13735206T>C | CA3201874 | DNAH5 | c.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 |
5 | g.13735206T>G | CA359223044 | DNAH5 | c.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) | |
5 | g.13735206T= | CA1528414833 | DNAH5 | c.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=) | |
5 | g.13735207G>A | CA443260015 | DNAH5 | c.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 |
5 | g.13735207G>C | CA3201875 | DNAH5 | c.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 |
5 | g.13735207G= | CA1528414834 | DNAH5 | c.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=) | |
5 | g.13735207G>T | CA359223080 | DNAH5 | c.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) | |
5 | g.13735208A>C | CA359223082 | DNAH5 | c.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) | |
5 | g.13735208A>G | CA359223083 | DNAH5 | c.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) | |
5 | g.13735208A>T | CA359223085 | DNAH5 | c.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) | |
5 | g.13735209A>C | CA359223087 | DNAH5 | c.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) | |
5 | g.13735209A>G | CA359223091 | DNAH5 | c.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) | |
5 | g.13735209A>T | CA359223093 | DNAH5 | c.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) | |
5 | g.13735210C>A | CA113926944 | DNAH5 | c.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 |
5 | g.13735210C= | CA1528414835 | DNAH5 | c.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=) | |
5 | g.13735210C>G | CA443260017 | DNAH5 | c.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=) | |
5 | g.13735210C>T | CA443260016 | DNAH5 | c.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=) | |
5 | g.13735211A= | CA1528414836 | DNAH5 | c.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=) | |
5 | g.13735211A>C | CA359223098 | DNAH5 | c.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) | |
5 | g.13735211A>G | CA3201876 | DNAH5 | c.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 |
5 | g.13735211A>T | CA3201877 | DNAH5 | c.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 |
5 | g.13735212G>A | CA443260018 | DNAH5 | c.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=) |