| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13708223_13708238del | CA2673266640 | DNAH5 | n.558_573del c.13225_13240del (p.Ser4409Ter) c.13180_13195del (p.Ser4394Ter) c.13333_13348del (p.Ser4445Ter) c.12913_12928del (p.Ser4305Ter) c.12238_12253del (p.Ser4080Ter) c.8422_8437del (p.Ser2808Ter) c.7975_7990del (p.Ser2659Ter) c.7312_7327del (p.Ser2438Ter) c.11827_11842del (p.Ser3943Ter) | gnomAD v4 |
| 5 | g.13708237G>A | CA443251276 | DNAH5 | n.557C>T c.13224C>T (p.Arg4408=) c.13179C>T (p.Arg4393=) c.13332C>T (p.Arg4444=) c.12912C>T (p.Arg4304=) c.12237C>T (p.Arg4079=) c.8421C>T (p.Arg2807=) c.7974C>T (p.Arg2658=) c.7311C>T (p.Arg2437=) c.11826C>T (p.Arg3942=) | |
| 5 | g.13708237G>C | CA443251277 | DNAH5 | n.557C>G c.13224C>G (p.Arg4408=) c.13179C>G (p.Arg4393=) c.13332C>G (p.Arg4444=) c.12912C>G (p.Arg4304=) c.12237C>G (p.Arg4079=) c.8421C>G (p.Arg2807=) c.7974C>G (p.Arg2658=) c.7311C>G (p.Arg2437=) c.11826C>G (p.Arg3942=) | |
| 5 | g.13708237G>T | CA443251278 | DNAH5 | n.557C>A c.13224C>A (p.Arg4408=) c.13179C>A (p.Arg4393=) c.13332C>A (p.Arg4444=) c.12912C>A (p.Arg4304=) c.12237C>A (p.Arg4079=) c.8421C>A (p.Arg2807=) c.7974C>A (p.Arg2658=) c.7311C>A (p.Arg2437=) c.11826C>A (p.Arg3942=) | |
| 5 | g.13708238C>A | CA359197228 | DNAH5 | n.556G>T c.13223G>T (p.Arg4408Leu) c.13178G>T (p.Arg4393Leu) c.13331G>T (p.Arg4444Leu) c.12911G>T (p.Arg4304Leu) c.12236G>T (p.Arg4079Leu) c.8420G>T (p.Arg2807Leu) c.7973G>T (p.Arg2658Leu) c.7310G>T (p.Arg2437Leu) c.11825G>T (p.Arg3942Leu) | gnomAD v4 |
| 5 | g.13708238C= | CA1528403773 | DNAH5 | n.556G= c.13223G= (p.Arg4408=) c.13178G= (p.Arg4393=) c.13331G= (p.Arg4444=) c.12911G= (p.Arg4304=) c.12236G= (p.Arg4079=) c.8420G= (p.Arg2807=) c.7973G= (p.Arg2658=) c.7310G= (p.Arg2437=) c.11825G= (p.Arg3942=) | |
| 5 | g.13708238C>G | CA359197229 | DNAH5 | n.556G>C c.13223G>C (p.Arg4408Pro) c.13178G>C (p.Arg4393Pro) c.13331G>C (p.Arg4444Pro) c.12911G>C (p.Arg4304Pro) c.12236G>C (p.Arg4079Pro) c.8420G>C (p.Arg2807Pro) c.7973G>C (p.Arg2658Pro) c.7310G>C (p.Arg2437Pro) c.11825G>C (p.Arg3942Pro) | |
| 5 | g.13708238C>T | CA3201418 | DNAH5 | n.556G>A c.13223G>A (p.Arg4408His) c.13178G>A (p.Arg4393His) c.13331G>A (p.Arg4444His) c.12911G>A (p.Arg4304His) c.12236G>A (p.Arg4079His) c.8420G>A (p.Arg2807His) c.7973G>A (p.Arg2658His) c.7310G>A (p.Arg2437His) c.11825G>A (p.Arg3942His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708239G>A | CA3201419 | DNAH5 | n.555C>T c.13222C>T (p.Arg4408Cys) c.13177C>T (p.Arg4393Cys) c.13330C>T (p.Arg4444Cys) c.12910C>T (p.Arg4304Cys) c.12235C>T (p.Arg4079Cys) c.8419C>T (p.Arg2807Cys) c.7972C>T (p.Arg2658Cys) c.7309C>T (p.Arg2437Cys) c.11824C>T (p.Arg3942Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708239G>C | CA3201420 | DNAH5 | n.555C>G c.13222C>G (p.Arg4408Gly) c.13177C>G (p.Arg4393Gly) c.13330C>G (p.Arg4444Gly) c.12910C>G (p.Arg4304Gly) c.12235C>G (p.Arg4079Gly) c.8419C>G (p.Arg2807Gly) c.7972C>G (p.Arg2658Gly) c.7309C>G (p.Arg2437Gly) c.11824C>G (p.Arg3942Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13708239G= | CA1528403774 | DNAH5 | n.555C= c.13222C= (p.Arg4408=) c.13177C= (p.Arg4393=) c.13330C= (p.Arg4444=) c.12910C= (p.Arg4304=) c.12235C= (p.Arg4079=) c.8419C= (p.Arg2807=) c.7972C= (p.Arg2658=) c.7309C= (p.Arg2437=) c.11824C= (p.Arg3942=) | |
| 5 | g.13708239G>T | CA359197232 | DNAH5 | n.555C>A c.13222C>A (p.Arg4408Ser) c.13177C>A (p.Arg4393Ser) c.13330C>A (p.Arg4444Ser) c.12910C>A (p.Arg4304Ser) c.12235C>A (p.Arg4079Ser) c.8419C>A (p.Arg2807Ser) c.7972C>A (p.Arg2658Ser) c.7309C>A (p.Arg2437Ser) c.11824C>A (p.Arg3942Ser) | |
| 5 | g.13708240G>A | CA443251285 | DNAH5 | n.554C>T c.13221C>T (p.Val4407=) c.13176C>T (p.Val4392=) c.13329C>T (p.Val4443=) c.12909C>T (p.Val4303=) c.12234C>T (p.Val4078=) c.8418C>T (p.Val2806=) c.7971C>T (p.Val2657=) c.7308C>T (p.Val2436=) c.11823C>T (p.Val3941=) | ClinVar gnomAD v4 |
| 5 | g.13708240G>C | CA443251286 | DNAH5 | n.554C>G c.13221C>G (p.Val4407=) c.13176C>G (p.Val4392=) c.13329C>G (p.Val4443=) c.12909C>G (p.Val4303=) c.12234C>G (p.Val4078=) c.8418C>G (p.Val2806=) c.7971C>G (p.Val2657=) c.7308C>G (p.Val2436=) c.11823C>G (p.Val3941=) | |
| 5 | g.13708240G>T | CA443251287 | DNAH5 | n.554C>A c.13221C>A (p.Val4407=) c.13176C>A (p.Val4392=) c.13329C>A (p.Val4443=) c.12909C>A (p.Val4303=) c.12234C>A (p.Val4078=) c.8418C>A (p.Val2806=) c.7971C>A (p.Val2657=) c.7308C>A (p.Val2436=) c.11823C>A (p.Val3941=) | |
| 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) |