Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
5 | g.13735216T>C | CA443260020 | DNAH5 | c.11676A>G (p.Lys3892=) c.11631A>G (p.Lys3877=) c.11784A>G (p.Lys3928=) c.10689A>G (p.Lys3563=) c.6873A>G (p.Lys2291=) c.6426A>G (p.Lys2142=) c.5763A>G (p.Lys1921=) c.10278A>G (p.Lys3426=) | |
5 | g.13735216T>G | CA359223139 | DNAH5 | c.11676A>C (p.Lys3892Asn) c.11631A>C (p.Lys3877Asn) c.11784A>C (p.Lys3928Asn) c.10689A>C (p.Lys3563Asn) c.6873A>C (p.Lys2291Asn) c.6426A>C (p.Lys2142Asn) c.5763A>C (p.Lys1921Asn) c.10278A>C (p.Lys3426Asn) | gnomAD v4 |
5 | g.13735217T>A | CA359223142 | DNAH5 | c.11675A>T (p.Lys3892Ile) c.11630A>T (p.Lys3877Ile) c.11783A>T (p.Lys3928Ile) c.10688A>T (p.Lys3563Ile) c.6872A>T (p.Lys2291Ile) c.6425A>T (p.Lys2142Ile) c.5762A>T (p.Lys1921Ile) c.10277A>T (p.Lys3426Ile) | |
5 | g.13735217T>C | CA359223146 | DNAH5 | c.11675A>G (p.Lys3892Arg) c.11630A>G (p.Lys3877Arg) c.11783A>G (p.Lys3928Arg) c.10688A>G (p.Lys3563Arg) c.6872A>G (p.Lys2291Arg) c.6425A>G (p.Lys2142Arg) c.5762A>G (p.Lys1921Arg) c.10277A>G (p.Lys3426Arg) | |
5 | g.13735217T>G | CA359223149 | DNAH5 | c.11675A>C (p.Lys3892Thr) c.11630A>C (p.Lys3877Thr) c.11783A>C (p.Lys3928Thr) c.10688A>C (p.Lys3563Thr) c.6872A>C (p.Lys2291Thr) c.6425A>C (p.Lys2142Thr) c.5762A>C (p.Lys1921Thr) c.10277A>C (p.Lys3426Thr) | |
5 | g.13735218T>A | CA359223153 | DNAH5 | c.11674A>T (p.Lys3892Ter) c.11629A>T (p.Lys3877Ter) c.11782A>T (p.Lys3928Ter) c.10687A>T (p.Lys3563Ter) c.6871A>T (p.Lys2291Ter) c.6424A>T (p.Lys2142Ter) c.5761A>T (p.Lys1921Ter) c.10276A>T (p.Lys3426Ter) | |
5 | g.13735218T>C | CA359223154 | DNAH5 | c.11674A>G (p.Lys3892Glu) c.11629A>G (p.Lys3877Glu) c.11782A>G (p.Lys3928Glu) c.10687A>G (p.Lys3563Glu) c.6871A>G (p.Lys2291Glu) c.6424A>G (p.Lys2142Glu) c.5761A>G (p.Lys1921Glu) c.10276A>G (p.Lys3426Glu) | |
5 | g.13735218T>G | CA359223152 | DNAH5 | c.11674A>C (p.Lys3892Gln) c.11629A>C (p.Lys3877Gln) c.11782A>C (p.Lys3928Gln) c.10687A>C (p.Lys3563Gln) c.6871A>C (p.Lys2291Gln) c.6424A>C (p.Lys2142Gln) c.5761A>C (p.Lys1921Gln) c.10276A>C (p.Lys3426Gln) | |
5 | g.13735219G>A | CA443260021 | DNAH5 | c.11673C>T (p.His3891=) c.11628C>T (p.His3876=) c.11781C>T (p.His3927=) c.10686C>T (p.His3562=) c.6870C>T (p.His2290=) c.6423C>T (p.His2141=) c.5760C>T (p.His1920=) c.10275C>T (p.His3425=) | |
5 | g.13735219G>C | CA359223157 | DNAH5 | c.11673C>G (p.His3891Gln) c.11628C>G (p.His3876Gln) c.11781C>G (p.His3927Gln) c.10686C>G (p.His3562Gln) c.6870C>G (p.His2290Gln) c.6423C>G (p.His2141Gln) c.5760C>G (p.His1920Gln) c.10275C>G (p.His3425Gln) | |
5 | g.13735219G>T | CA359223156 | DNAH5 | c.11673C>A (p.His3891Gln) c.11628C>A (p.His3876Gln) c.11781C>A (p.His3927Gln) c.10686C>A (p.His3562Gln) c.6870C>A (p.His2290Gln) c.6423C>A (p.His2141Gln) c.5760C>A (p.His1920Gln) c.10275C>A (p.His3425Gln) | |
5 | g.13735220T>A | CA359223171 | DNAH5 | c.11672A>T (p.His3891Leu) c.11627A>T (p.His3876Leu) c.11780A>T (p.His3927Leu) c.10685A>T (p.His3562Leu) c.6869A>T (p.His2290Leu) c.6422A>T (p.His2141Leu) c.5759A>T (p.His1920Leu) c.10274A>T (p.His3425Leu) | |
5 | g.13735220T>C | CA359223175 | DNAH5 | c.11672A>G (p.His3891Arg) c.11627A>G (p.His3876Arg) c.11780A>G (p.His3927Arg) c.10685A>G (p.His3562Arg) c.6869A>G (p.His2290Arg) c.6422A>G (p.His2141Arg) c.5759A>G (p.His1920Arg) c.10274A>G (p.His3425Arg) | |
5 | g.13735220T>G | CA359223177 | DNAH5 | c.11672A>C (p.His3891Pro) c.11627A>C (p.His3876Pro) c.11780A>C (p.His3927Pro) c.10685A>C (p.His3562Pro) c.6869A>C (p.His2290Pro) c.6422A>C (p.His2141Pro) c.5759A>C (p.His1920Pro) c.10274A>C (p.His3425Pro) | |
5 | g.13735221G>A | CA359223181 | DNAH5 | c.11671C>T (p.His3891Tyr) c.11626C>T (p.His3876Tyr) c.11779C>T (p.His3927Tyr) c.10684C>T (p.His3562Tyr) c.6868C>T (p.His2290Tyr) c.6421C>T (p.His2141Tyr) c.5758C>T (p.His1920Tyr) c.10273C>T (p.His3425Tyr) | |
5 | g.13735221G>C | CA359223184 | DNAH5 | c.11671C>G (p.His3891Asp) c.11626C>G (p.His3876Asp) c.11779C>G (p.His3927Asp) c.10684C>G (p.His3562Asp) c.6868C>G (p.His2290Asp) c.6421C>G (p.His2141Asp) c.5758C>G (p.His1920Asp) c.10273C>G (p.His3425Asp) | |
5 | g.13735221G= | CA1528414837 | DNAH5 | c.11671C= (p.His3891=) c.11626C= (p.His3876=) c.11779C= (p.His3927=) c.10684C= (p.His3562=) c.6868C= (p.His2290=) c.6421C= (p.His2141=) c.5758C= (p.His1920=) c.10273C= (p.His3425=) | |
5 | g.13735221G>T | CA113926956 | DNAH5 | c.11671C>A (p.His3891Asn) c.11626C>A (p.His3876Asn) c.11779C>A (p.His3927Asn) c.10684C>A (p.His3562Asn) c.6868C>A (p.His2290Asn) c.6421C>A (p.His2141Asn) c.5758C>A (p.His1920Asn) c.10273C>A (p.His3425Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |