UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13708241A>C | CA359197245 | DNAH5 | n.553T>G c.13220T>G (p.Val4407Gly) c.13175T>G (p.Val4392Gly) c.13328T>G (p.Val4443Gly) c.12908T>G (p.Val4303Gly) c.12233T>G (p.Val4078Gly) c.8417T>G (p.Val2806Gly) c.7970T>G (p.Val2657Gly) c.7307T>G (p.Val2436Gly) c.11822T>G (p.Val3941Gly) | |
| 5 | g.13708241A>G | CA359197249 | DNAH5 | n.553T>C c.13220T>C (p.Val4407Ala) c.13175T>C (p.Val4392Ala) c.13328T>C (p.Val4443Ala) c.12908T>C (p.Val4303Ala) c.12233T>C (p.Val4078Ala) c.8417T>C (p.Val2806Ala) c.7970T>C (p.Val2657Ala) c.7307T>C (p.Val2436Ala) c.11822T>C (p.Val3941Ala) | gnomAD v4 |
| 5 | g.13708241A>T | CA359197253 | DNAH5 | n.553T>A c.13220T>A (p.Val4407Asp) c.13175T>A (p.Val4392Asp) c.13328T>A (p.Val4443Asp) c.12908T>A (p.Val4303Asp) c.12233T>A (p.Val4078Asp) c.8417T>A (p.Val2806Asp) c.7970T>A (p.Val2657Asp) c.7307T>A (p.Val2436Asp) c.11822T>A (p.Val3941Asp) | |
| 5 | g.13708242C>A | CA359197272 | DNAH5 | n.552G>T c.13219G>T (p.Val4407Phe) c.13174G>T (p.Val4392Phe) c.13327G>T (p.Val4443Phe) c.12907G>T (p.Val4303Phe) c.12232G>T (p.Val4078Phe) c.8416G>T (p.Val2806Phe) c.7969G>T (p.Val2657Phe) c.7306G>T (p.Val2436Phe) c.11821G>T (p.Val3941Phe) | |
| 5 | g.13708242C>G | CA359197280 | DNAH5 | n.552G>C c.13219G>C (p.Val4407Leu) c.13174G>C (p.Val4392Leu) c.13327G>C (p.Val4443Leu) c.12907G>C (p.Val4303Leu) c.12232G>C (p.Val4078Leu) c.8416G>C (p.Val2806Leu) c.7969G>C (p.Val2657Leu) c.7306G>C (p.Val2436Leu) c.11821G>C (p.Val3941Leu) | |
| 5 | g.13708242C>T | CA359197283 | DNAH5 | n.552G>A c.13219G>A (p.Val4407Ile) c.13174G>A (p.Val4392Ile) c.13327G>A (p.Val4443Ile) c.12907G>A (p.Val4303Ile) c.12232G>A (p.Val4078Ile) c.8416G>A (p.Val2806Ile) c.7969G>A (p.Val2657Ile) c.7306G>A (p.Val2436Ile) c.11821G>A (p.Val3941Ile) | gnomAD v4 |
| 5 | g.13708243A>C | CA443251291 | DNAH5 | n.551T>G c.13218T>G (p.Leu4406=) c.13173T>G (p.Leu4391=) c.13326T>G (p.Leu4442=) c.12906T>G (p.Leu4302=) c.12231T>G (p.Leu4077=) c.8415T>G (p.Leu2805=) c.7968T>G (p.Leu2656=) c.7305T>G (p.Leu2435=) c.11820T>G (p.Leu3940=) | |
| 5 | g.13708243A>G | CA443251292 | DNAH5 | n.551T>C c.13218T>C (p.Leu4406=) c.13173T>C (p.Leu4391=) c.13326T>C (p.Leu4442=) c.12906T>C (p.Leu4302=) c.12231T>C (p.Leu4077=) c.8415T>C (p.Leu2805=) c.7968T>C (p.Leu2656=) c.7305T>C (p.Leu2435=) c.11820T>C (p.Leu3940=) | |
| 5 | g.13708243A>T | CA443251293 | DNAH5 | n.551T>A c.13218T>A (p.Leu4406=) c.13173T>A (p.Leu4391=) c.13326T>A (p.Leu4442=) c.12906T>A (p.Leu4302=) c.12231T>A (p.Leu4077=) c.8415T>A (p.Leu2805=) c.7968T>A (p.Leu2656=) c.7305T>A (p.Leu2435=) c.11820T>A (p.Leu3940=) | |
| 5 | g.13708244A>C | CA359197287 | DNAH5 | n.550T>G c.13217T>G (p.Leu4406Arg) c.13172T>G (p.Leu4391Arg) c.13325T>G (p.Leu4442Arg) c.12905T>G (p.Leu4302Arg) c.12230T>G (p.Leu4077Arg) c.8414T>G (p.Leu2805Arg) c.7967T>G (p.Leu2656Arg) c.7304T>G (p.Leu2435Arg) c.11819T>G (p.Leu3940Arg) | |
| 5 | g.13708244A>G | CA359197288 | DNAH5 | n.550T>C c.13217T>C (p.Leu4406Pro) c.13172T>C (p.Leu4391Pro) c.13325T>C (p.Leu4442Pro) c.12905T>C (p.Leu4302Pro) c.12230T>C (p.Leu4077Pro) c.8414T>C (p.Leu2805Pro) c.7967T>C (p.Leu2656Pro) c.7304T>C (p.Leu2435Pro) c.11819T>C (p.Leu3940Pro) | |
| 5 | g.13708244A>T | CA359197289 | DNAH5 | n.550T>A c.13217T>A (p.Leu4406His) c.13172T>A (p.Leu4391His) c.13325T>A (p.Leu4442His) c.12905T>A (p.Leu4302His) c.12230T>A (p.Leu4077His) c.8414T>A (p.Leu2805His) c.7967T>A (p.Leu2656His) c.7304T>A (p.Leu2435His) c.11819T>A (p.Leu3940His) | COSMIC |
| 5 | g.13708245G>A | CA359197291 | DNAH5 | n.549C>T c.13216C>T (p.Leu4406Phe) c.13171C>T (p.Leu4391Phe) c.13324C>T (p.Leu4442Phe) c.12904C>T (p.Leu4302Phe) c.12229C>T (p.Leu4077Phe) c.8413C>T (p.Leu2805Phe) c.7966C>T (p.Leu2656Phe) c.7303C>T (p.Leu2435Phe) c.11818C>T (p.Leu3940Phe) | dbSNP gnomAD v4 |
| 5 | g.13708245G>C | CA359197297 | DNAH5 | n.549C>G c.13216C>G (p.Leu4406Val) c.13171C>G (p.Leu4391Val) c.13324C>G (p.Leu4442Val) c.12904C>G (p.Leu4302Val) c.12229C>G (p.Leu4077Val) c.8413C>G (p.Leu2805Val) c.7966C>G (p.Leu2656Val) c.7303C>G (p.Leu2435Val) c.11818C>G (p.Leu3940Val) | |
| 5 | g.13708245G= | CA1528403775 | DNAH5 | n.549C= c.13216C= (p.Leu4406=) c.13171C= (p.Leu4391=) c.13324C= (p.Leu4442=) c.12904C= (p.Leu4302=) c.12229C= (p.Leu4077=) c.8413C= (p.Leu2805=) c.7966C= (p.Leu2656=) c.7303C= (p.Leu2435=) c.11818C= (p.Leu3940=) | |
| 5 | g.13708245G>T | CA359197304 | DNAH5 | n.549C>A c.13216C>A (p.Leu4406Ile) c.13171C>A (p.Leu4391Ile) c.13324C>A (p.Leu4442Ile) c.12904C>A (p.Leu4302Ile) c.12229C>A (p.Leu4077Ile) c.8413C>A (p.Leu2805Ile) c.7966C>A (p.Leu2656Ile) c.7303C>A (p.Leu2435Ile) c.11818C>A (p.Leu3940Ile) | dbSNP gnomAD v2 |
| 5 | g.13708246G>A | CA443251300 | DNAH5 | n.548C>T c.13215C>T (p.Ser4405=) c.13170C>T (p.Ser4390=) c.13323C>T (p.Ser4441=) c.12903C>T (p.Ser4301=) c.12228C>T (p.Ser4076=) c.8412C>T (p.Ser2804=) c.7965C>T (p.Ser2655=) c.7302C>T (p.Ser2434=) c.11817C>T (p.Ser3939=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708246G>C | CA359197318 | DNAH5 | n.548C>G c.13215C>G (p.Ser4405Arg) c.13170C>G (p.Ser4390Arg) c.13323C>G (p.Ser4441Arg) c.12903C>G (p.Ser4301Arg) c.12228C>G (p.Ser4076Arg) c.8412C>G (p.Ser2804Arg) c.7965C>G (p.Ser2655Arg) c.7302C>G (p.Ser2434Arg) c.11817C>G (p.Ser3939Arg) | |
| 5 | g.13708246G= | CA1528403776 | DNAH5 | n.548C= c.13215C= (p.Ser4405=) c.13170C= (p.Ser4390=) c.13323C= (p.Ser4441=) c.12903C= (p.Ser4301=) c.12228C= (p.Ser4076=) c.8412C= (p.Ser2804=) c.7965C= (p.Ser2655=) c.7302C= (p.Ser2434=) c.11817C= (p.Ser3939=) | |
| 5 | g.13708246G>T | CA359197314 | DNAH5 | n.548C>A c.13215C>A (p.Ser4405Arg) c.13170C>A (p.Ser4390Arg) c.13323C>A (p.Ser4441Arg) c.12903C>A (p.Ser4301Arg) c.12228C>A (p.Ser4076Arg) c.8412C>A (p.Ser2804Arg) c.7965C>A (p.Ser2655Arg) c.7302C>A (p.Ser2434Arg) c.11817C>A (p.Ser3939Arg) | |
| 5 | g.13708247C>A | CA359197321 | DNAH5 | n.547G>T c.13214G>T (p.Ser4405Ile) c.13169G>T (p.Ser4390Ile) c.13322G>T (p.Ser4441Ile) c.12902G>T (p.Ser4301Ile) c.12227G>T (p.Ser4076Ile) c.8411G>T (p.Ser2804Ile) c.7964G>T (p.Ser2655Ile) c.7301G>T (p.Ser2434Ile) c.11816G>T (p.Ser3939Ile) | |
| 5 | g.13708247C>G | CA359197325 | DNAH5 | n.547G>C c.13214G>C (p.Ser4405Thr) c.13169G>C (p.Ser4390Thr) c.13322G>C (p.Ser4441Thr) c.12902G>C (p.Ser4301Thr) c.12227G>C (p.Ser4076Thr) c.8411G>C (p.Ser2804Thr) c.7964G>C (p.Ser2655Thr) c.7301G>C (p.Ser2434Thr) c.11816G>C (p.Ser3939Thr) | |
| 5 | g.13708247C>T | CA359197333 | DNAH5 | n.547G>A c.13214G>A (p.Ser4405Asn) c.13169G>A (p.Ser4390Asn) c.13322G>A (p.Ser4441Asn) c.12902G>A (p.Ser4301Asn) c.12227G>A (p.Ser4076Asn) c.8411G>A (p.Ser2804Asn) c.7964G>A (p.Ser2655Asn) c.7301G>A (p.Ser2434Asn) c.11816G>A (p.Ser3939Asn) | |
| 5 | g.13708248T>A | CA359197341 | DNAH5 | n.546A>T c.13213A>T (p.Ser4405Cys) c.13168A>T (p.Ser4390Cys) c.13321A>T (p.Ser4441Cys) c.12901A>T (p.Ser4301Cys) c.12226A>T (p.Ser4076Cys) c.8410A>T (p.Ser2804Cys) c.7963A>T (p.Ser2655Cys) c.7300A>T (p.Ser2434Cys) c.11815A>T (p.Ser3939Cys) | |
| 5 | g.13708248T>C | CA359197347 | DNAH5 | n.546A>G c.13213A>G (p.Ser4405Gly) c.13168A>G (p.Ser4390Gly) c.13321A>G (p.Ser4441Gly) c.12901A>G (p.Ser4301Gly) c.12226A>G (p.Ser4076Gly) c.8410A>G (p.Ser2804Gly) c.7963A>G (p.Ser2655Gly) c.7300A>G (p.Ser2434Gly) c.11815A>G (p.Ser3939Gly) | |
| 5 | g.13708248T>G | CA359197350 | DNAH5 | n.546A>C c.13213A>C (p.Ser4405Arg) c.13168A>C (p.Ser4390Arg) c.13321A>C (p.Ser4441Arg) c.12901A>C (p.Ser4301Arg) c.12226A>C (p.Ser4076Arg) c.8410A>C (p.Ser2804Arg) c.7963A>C (p.Ser2655Arg) c.7300A>C (p.Ser2434Arg) c.11815A>C (p.Ser3939Arg) | |
| 5 | g.13708249G>A | CA443251305 | DNAH5 | n.545C>T c.13212C>T (p.Leu4404=) c.13167C>T (p.Leu4389=) c.13320C>T (p.Leu4440=) c.12900C>T (p.Leu4300=) c.12225C>T (p.Leu4075=) c.8409C>T (p.Leu2803=) c.7962C>T (p.Leu2654=) c.7299C>T (p.Leu2433=) c.11814C>T (p.Leu3938=) | gnomAD v4 |
| 5 | g.13708249G>C | CA443251306 | DNAH5 | n.545C>G c.13212C>G (p.Leu4404=) c.13167C>G (p.Leu4389=) c.13320C>G (p.Leu4440=) c.12900C>G (p.Leu4300=) c.12225C>G (p.Leu4075=) c.8409C>G (p.Leu2803=) c.7962C>G (p.Leu2654=) c.7299C>G (p.Leu2433=) c.11814C>G (p.Leu3938=) | |
| 5 | g.13708249G>T | CA443251309 | DNAH5 | n.545C>A c.13212C>A (p.Leu4404=) c.13167C>A (p.Leu4389=) c.13320C>A (p.Leu4440=) c.12900C>A (p.Leu4300=) c.12225C>A (p.Leu4075=) c.8409C>A (p.Leu2803=) c.7962C>A (p.Leu2654=) c.7299C>A (p.Leu2433=) c.11814C>A (p.Leu3938=) | |
| 5 | g.13708250A>C | CA359197364 | DNAH5 | n.544T>G c.13211T>G (p.Leu4404Arg) c.13166T>G (p.Leu4389Arg) c.13319T>G (p.Leu4440Arg) c.12899T>G (p.Leu4300Arg) c.12224T>G (p.Leu4075Arg) c.8408T>G (p.Leu2803Arg) c.7961T>G (p.Leu2654Arg) c.7298T>G (p.Leu2433Arg) c.11813T>G (p.Leu3938Arg) | |
| 5 | g.13708250A>G | CA359197358 | DNAH5 | n.544T>C c.13211T>C (p.Leu4404Pro) c.13166T>C (p.Leu4389Pro) c.13319T>C (p.Leu4440Pro) c.12899T>C (p.Leu4300Pro) c.12224T>C (p.Leu4075Pro) c.8408T>C (p.Leu2803Pro) c.7961T>C (p.Leu2654Pro) c.7298T>C (p.Leu2433Pro) c.11813T>C (p.Leu3938Pro) | |
| 5 | g.13708250A>T | CA359197353 | DNAH5 | n.544T>A c.13211T>A (p.Leu4404His) c.13166T>A (p.Leu4389His) c.13319T>A (p.Leu4440His) c.12899T>A (p.Leu4300His) c.12224T>A (p.Leu4075His) c.8408T>A (p.Leu2803His) c.7961T>A (p.Leu2654His) c.7298T>A (p.Leu2433His) c.11813T>A (p.Leu3938His) | |
| 5 | g.13708251G>A | CA359197369 | DNAH5 | n.543C>T c.13210C>T (p.Leu4404Phe) c.13165C>T (p.Leu4389Phe) c.13318C>T (p.Leu4440Phe) c.12898C>T (p.Leu4300Phe) c.12223C>T (p.Leu4075Phe) c.8407C>T (p.Leu2803Phe) c.7960C>T (p.Leu2654Phe) c.7297C>T (p.Leu2433Phe) c.11812C>T (p.Leu3938Phe) | |
| 5 | g.13708251G>C | CA359197376 | DNAH5 | n.543C>G c.13210C>G (p.Leu4404Val) c.13165C>G (p.Leu4389Val) c.13318C>G (p.Leu4440Val) c.12898C>G (p.Leu4300Val) c.12223C>G (p.Leu4075Val) c.8407C>G (p.Leu2803Val) c.7960C>G (p.Leu2654Val) c.7297C>G (p.Leu2433Val) c.11812C>G (p.Leu3938Val) | |
| 5 | g.13708251G>T | CA359197380 | DNAH5 | n.543C>A c.13210C>A (p.Leu4404Ile) c.13165C>A (p.Leu4389Ile) c.13318C>A (p.Leu4440Ile) c.12898C>A (p.Leu4300Ile) c.12223C>A (p.Leu4075Ile) c.8407C>A (p.Leu2803Ile) c.7960C>A (p.Leu2654Ile) c.7297C>A (p.Leu2433Ile) c.11812C>A (p.Leu3938Ile) | |
| 5 | g.13708252T>A | CA443251314 | DNAH5 | n.542A>T c.13209A>T (p.Val4403=) c.13164A>T (p.Val4388=) c.13317A>T (p.Val4439=) c.12897A>T (p.Val4299=) c.12222A>T (p.Val4074=) c.8406A>T (p.Val2802=) c.7959A>T (p.Val2653=) c.7296A>T (p.Val2432=) c.11811A>T (p.Val3937=) | |
| 5 | g.13708252T>C | CA443251315 | DNAH5 | n.542A>G c.13209A>G (p.Val4403=) c.13164A>G (p.Val4388=) c.13317A>G (p.Val4439=) c.12897A>G (p.Val4299=) c.12222A>G (p.Val4074=) c.8406A>G (p.Val2802=) c.7959A>G (p.Val2653=) c.7296A>G (p.Val2432=) c.11811A>G (p.Val3937=) | |
| 5 | g.13708252T>G | CA443251316 | DNAH5 | n.542A>C c.13209A>C (p.Val4403=) c.13164A>C (p.Val4388=) c.13317A>C (p.Val4439=) c.12897A>C (p.Val4299=) c.12222A>C (p.Val4074=) c.8406A>C (p.Val2802=) c.7959A>C (p.Val2653=) c.7296A>C (p.Val2432=) c.11811A>C (p.Val3937=) | |
| 5 | g.13708253A>C | CA359197382 | DNAH5 | n.541T>G c.13208T>G (p.Val4403Gly) c.13163T>G (p.Val4388Gly) c.13316T>G (p.Val4439Gly) c.12896T>G (p.Val4299Gly) c.12221T>G (p.Val4074Gly) c.8405T>G (p.Val2802Gly) c.7958T>G (p.Val2653Gly) c.7295T>G (p.Val2432Gly) c.11810T>G (p.Val3937Gly) | |
| 5 | g.13708253A>G | CA359197383 | DNAH5 | n.541T>C c.13208T>C (p.Val4403Ala) c.13163T>C (p.Val4388Ala) c.13316T>C (p.Val4439Ala) c.12896T>C (p.Val4299Ala) c.12221T>C (p.Val4074Ala) c.8405T>C (p.Val2802Ala) c.7958T>C (p.Val2653Ala) c.7295T>C (p.Val2432Ala) c.11810T>C (p.Val3937Ala) | gnomAD v4 |
| 5 | g.13708253A>T | CA359197387 | DNAH5 | n.541T>A c.13208T>A (p.Val4403Glu) c.13163T>A (p.Val4388Glu) c.13316T>A (p.Val4439Glu) c.12896T>A (p.Val4299Glu) c.12221T>A (p.Val4074Glu) c.8405T>A (p.Val2802Glu) c.7958T>A (p.Val2653Glu) c.7295T>A (p.Val2432Glu) c.11810T>A (p.Val3937Glu) | |
| 5 | g.13708254C>A | CA359197391 | DNAH5 | n.540G>T c.13207G>T (p.Val4403Leu) c.13162G>T (p.Val4388Leu) c.13315G>T (p.Val4439Leu) c.12895G>T (p.Val4299Leu) c.12220G>T (p.Val4074Leu) c.8404G>T (p.Val2802Leu) c.7957G>T (p.Val2653Leu) c.7294G>T (p.Val2432Leu) c.11809G>T (p.Val3937Leu) | |
| 5 | g.13708254C= | CA1528403777 | DNAH5 | n.540G= c.13207G= (p.Val4403=) c.13162G= (p.Val4388=) c.13315G= (p.Val4439=) c.12895G= (p.Val4299=) c.12220G= (p.Val4074=) c.8404G= (p.Val2802=) c.7957G= (p.Val2653=) c.7294G= (p.Val2432=) c.11809G= (p.Val3937=) | |
| 5 | g.13708254C>G | CA359197404 | DNAH5 | n.540G>C c.13207G>C (p.Val4403Leu) c.13162G>C (p.Val4388Leu) c.13315G>C (p.Val4439Leu) c.12895G>C (p.Val4299Leu) c.12220G>C (p.Val4074Leu) c.8404G>C (p.Val2802Leu) c.7957G>C (p.Val2653Leu) c.7294G>C (p.Val2432Leu) c.11809G>C (p.Val3937Leu) | |
| 5 | g.13708254C>T | CA359197397 | DNAH5 | n.540G>A c.13207G>A (p.Val4403Ile) c.13162G>A (p.Val4388Ile) c.13315G>A (p.Val4439Ile) c.12895G>A (p.Val4299Ile) c.12220G>A (p.Val4074Ile) c.8404G>A (p.Val2802Ile) c.7957G>A (p.Val2653Ile) c.7294G>A (p.Val2432Ile) c.11809G>A (p.Val3937Ile) | dbSNP |
| 5 | g.13708255C>A | CA359197416 | DNAH5 | n.539G>T c.13206G>T (p.Arg4402Ser) c.13161G>T (p.Arg4387Ser) c.13314G>T (p.Arg4438Ser) c.12894G>T (p.Arg4298Ser) c.12219G>T (p.Arg4073Ser) c.8403G>T (p.Arg2801Ser) c.7956G>T (p.Arg2652Ser) c.7293G>T (p.Arg2431Ser) c.11808G>T (p.Arg3936Ser) | |
| 5 | g.13708255C= | CA1528403778 | DNAH5 | n.539G= c.13206G= (p.Arg4402=) c.13161G= (p.Arg4387=) c.13314G= (p.Arg4438=) c.12894G= (p.Arg4298=) c.12219G= (p.Arg4073=) c.8403G= (p.Arg2801=) c.7956G= (p.Arg2652=) c.7293G= (p.Arg2431=) c.11808G= (p.Arg3936=) | |
| 5 | g.13708255C>G | CA359197417 | DNAH5 | n.539G>C c.13206G>C (p.Arg4402Ser) c.13161G>C (p.Arg4387Ser) c.13314G>C (p.Arg4438Ser) c.12894G>C (p.Arg4298Ser) c.12219G>C (p.Arg4073Ser) c.8403G>C (p.Arg2801Ser) c.7956G>C (p.Arg2652Ser) c.7293G>C (p.Arg2431Ser) c.11808G>C (p.Arg3936Ser) | gnomAD v4 |
| 5 | g.13708255C>T | CA443251317 | DNAH5 | n.539G>A c.13206G>A (p.Arg4402=) c.13161G>A (p.Arg4387=) c.13314G>A (p.Arg4438=) c.12894G>A (p.Arg4298=) c.12219G>A (p.Arg4073=) c.8403G>A (p.Arg2801=) c.7956G>A (p.Arg2652=) c.7293G>A (p.Arg2431=) c.11808G>A (p.Arg3936=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13708256C>A | CA359197424 | DNAH5 | n.538G>T c.13205G>T (p.Arg4402Met) c.13160G>T (p.Arg4387Met) c.13313G>T (p.Arg4438Met) c.12893G>T (p.Arg4298Met) c.12218G>T (p.Arg4073Met) c.8402G>T (p.Arg2801Met) c.7955G>T (p.Arg2652Met) c.7292G>T (p.Arg2431Met) c.11807G>T (p.Arg3936Met) |