Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | ClinVar 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=) | |
5 | g.13735212G>C | CA359223105 | DNAH5 | c.11680C>G (p.Leu3894Val) c.11635C>G (p.Leu3879Val) c.11788C>G (p.Leu3930Val) c.10693C>G (p.Leu3565Val) c.6877C>G (p.Leu2293Val) c.6430C>G (p.Leu2144Val) c.5767C>G (p.Leu1923Val) c.10282C>G (p.Leu3428Val) | |
5 | g.13735212G>T | CA359223108 | DNAH5 | c.11680C>A (p.Leu3894Met) c.11635C>A (p.Leu3879Met) c.11788C>A (p.Leu3930Met) c.10693C>A (p.Leu3565Met) c.6877C>A (p.Leu2293Met) c.6430C>A (p.Leu2144Met) c.5767C>A (p.Leu1923Met) c.10282C>A (p.Leu3428Met) | |
5 | g.13735212_13735216dup | CA2580071990 | DNAH5 | c.11676_11680dup (p.Leu3894HisfsTer10) c.11631_11635dup (p.Leu3879HisfsTer10) c.11784_11788dup (p.Leu3930HisfsTer10) c.10689_10693dup (p.Leu3565HisfsTer10) c.6873_6877dup (p.Leu2293HisfsTer10) c.6426_6430dup (p.Leu2144HisfsTer10) c.5763_5767dup (p.Leu1923HisfsTer10) c.10278_10282dup (p.Leu3428HisfsTer10) | ClinVar |
5 | g.13735213G>A | CA443260019 | DNAH5 | c.11679C>T (p.Phe3893=) c.11634C>T (p.Phe3878=) c.11787C>T (p.Phe3929=) c.10692C>T (p.Phe3564=) c.6876C>T (p.Phe2292=) c.6429C>T (p.Phe2143=) c.5766C>T (p.Phe1922=) c.10281C>T (p.Phe3427=) | gnomAD v4 COSMIC |
5 | g.13735213G>C | CA359223110 | DNAH5 | c.11679C>G (p.Phe3893Leu) c.11634C>G (p.Phe3878Leu) c.11787C>G (p.Phe3929Leu) c.10692C>G (p.Phe3564Leu) c.6876C>G (p.Phe2292Leu) c.6429C>G (p.Phe2143Leu) c.5766C>G (p.Phe1922Leu) c.10281C>G (p.Phe3427Leu) | |
5 | g.13735213G>T | CA359223114 | DNAH5 | c.11679C>A (p.Phe3893Leu) c.11634C>A (p.Phe3878Leu) c.11787C>A (p.Phe3929Leu) c.10692C>A (p.Phe3564Leu) c.6876C>A (p.Phe2292Leu) c.6429C>A (p.Phe2143Leu) c.5766C>A (p.Phe1922Leu) c.10281C>A (p.Phe3427Leu) | |
5 | g.13735214A>C | CA359223117 | DNAH5 | c.11678T>G (p.Phe3893Cys) c.11633T>G (p.Phe3878Cys) c.11786T>G (p.Phe3929Cys) c.10691T>G (p.Phe3564Cys) c.6875T>G (p.Phe2292Cys) c.6428T>G (p.Phe2143Cys) c.5765T>G (p.Phe1922Cys) c.10280T>G (p.Phe3427Cys) | |
5 | g.13735214A>G | CA359223119 | DNAH5 | c.11678T>C (p.Phe3893Ser) c.11633T>C (p.Phe3878Ser) c.11786T>C (p.Phe3929Ser) c.10691T>C (p.Phe3564Ser) c.6875T>C (p.Phe2292Ser) c.6428T>C (p.Phe2143Ser) c.5765T>C (p.Phe1922Ser) c.10280T>C (p.Phe3427Ser) | |
5 | g.13735214A>T | CA359223121 | DNAH5 | c.11678T>A (p.Phe3893Tyr) c.11633T>A (p.Phe3878Tyr) c.11786T>A (p.Phe3929Tyr) c.10691T>A (p.Phe3564Tyr) c.6875T>A (p.Phe2292Tyr) c.6428T>A (p.Phe2143Tyr) c.5765T>A (p.Phe1922Tyr) c.10280T>A (p.Phe3427Tyr) | |
5 | g.13735215A>C | CA359223126 | DNAH5 | c.11677T>G (p.Phe3893Val) c.11632T>G (p.Phe3878Val) c.11785T>G (p.Phe3929Val) c.10690T>G (p.Phe3564Val) c.6874T>G (p.Phe2292Val) c.6427T>G (p.Phe2143Val) c.5764T>G (p.Phe1922Val) c.10279T>G (p.Phe3427Val) | |
5 | g.13735215A>G | CA359223129 | DNAH5 | c.11677T>C (p.Phe3893Leu) c.11632T>C (p.Phe3878Leu) c.11785T>C (p.Phe3929Leu) c.10690T>C (p.Phe3564Leu) c.6874T>C (p.Phe2292Leu) c.6427T>C (p.Phe2143Leu) c.5764T>C (p.Phe1922Leu) c.10279T>C (p.Phe3427Leu) | |
5 | g.13735215A>T | CA359223132 | DNAH5 | c.11677T>A (p.Phe3893Ile) c.11632T>A (p.Phe3878Ile) c.11785T>A (p.Phe3929Ile) c.10690T>A (p.Phe3564Ile) c.6874T>A (p.Phe2292Ile) c.6427T>A (p.Phe2143Ile) c.5764T>A (p.Phe1922Ile) c.10279T>A (p.Phe3427Ile) | |
5 | g.13735216T>A | CA359223137 | DNAH5 | c.11676A>T (p.Lys3892Asn) c.11631A>T (p.Lys3877Asn) c.11784A>T (p.Lys3928Asn) c.10689A>T (p.Lys3563Asn) c.6873A>T (p.Lys2291Asn) c.6426A>T (p.Lys2142Asn) c.5763A>T (p.Lys1921Asn) c.10278A>T (p.Lys3426Asn) |