| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13717497C>A | CA113919295 | DNAH5 | c.12523G>T (p.Val4175Leu) c.12478G>T (p.Val4160Leu) c.12631G>T (p.Val4211Leu) c.11536G>T (p.Val3846Leu) c.7720G>T (p.Val2574Leu) c.7273G>T (p.Val2425Leu) c.6610G>T (p.Val2204Leu) c.11125G>T (p.Val3709Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13717497C= | CA1528407075 | DNAH5 | c.12523G= (p.Val4175=) c.12478G= (p.Val4160=) c.12631G= (p.Val4211=) c.11536G= (p.Val3846=) c.7720G= (p.Val2574=) c.7273G= (p.Val2425=) c.6610G= (p.Val2204=) c.11125G= (p.Val3709=) | |
| 5 | g.13717497C>G | CA359208329 | DNAH5 | c.12523G>C (p.Val4175Leu) c.12478G>C (p.Val4160Leu) c.12631G>C (p.Val4211Leu) c.11536G>C (p.Val3846Leu) c.7720G>C (p.Val2574Leu) c.7273G>C (p.Val2425Leu) c.6610G>C (p.Val2204Leu) c.11125G>C (p.Val3709Leu) | |
| 5 | g.13717497C>T | CA3201602 | DNAH5 | c.12523G>A (p.Val4175Met) c.12478G>A (p.Val4160Met) c.12631G>A (p.Val4211Met) c.11536G>A (p.Val3846Met) c.7720G>A (p.Val2574Met) c.7273G>A (p.Val2425Met) c.6610G>A (p.Val2204Met) c.11125G>A (p.Val3709Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717498G>A | CA3201603 | DNAH5 | c.12522C>T (p.Asp4174=) c.12477C>T (p.Asp4159=) c.12630C>T (p.Asp4210=) c.11535C>T (p.Asp3845=) c.7719C>T (p.Asp2573=) c.7272C>T (p.Asp2424=) c.6609C>T (p.Asp2203=) c.11124C>T (p.Asp3708=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717498G>C | CA359208340 | DNAH5 | c.12522C>G (p.Asp4174Glu) c.12477C>G (p.Asp4159Glu) c.12630C>G (p.Asp4210Glu) c.11535C>G (p.Asp3845Glu) c.7719C>G (p.Asp2573Glu) c.7272C>G (p.Asp2424Glu) c.6609C>G (p.Asp2203Glu) c.11124C>G (p.Asp3708Glu) | |
| 5 | g.13717498G= | CA1528407076 | DNAH5 | c.12522C= (p.Asp4174=) c.12477C= (p.Asp4159=) c.12630C= (p.Asp4210=) c.11535C= (p.Asp3845=) c.7719C= (p.Asp2573=) c.7272C= (p.Asp2424=) c.6609C= (p.Asp2203=) c.11124C= (p.Asp3708=) | |
| 5 | g.13717498G>T | CA359208341 | DNAH5 | c.12522C>A (p.Asp4174Glu) c.12477C>A (p.Asp4159Glu) c.12630C>A (p.Asp4210Glu) c.11535C>A (p.Asp3845Glu) c.7719C>A (p.Asp2573Glu) c.7272C>A (p.Asp2424Glu) c.6609C>A (p.Asp2203Glu) c.11124C>A (p.Asp3708Glu) | gnomAD v4 |
| 5 | g.13717499T>A | CA359208342 | DNAH5 | c.12521A>T (p.Asp4174Val) c.12476A>T (p.Asp4159Val) c.12629A>T (p.Asp4210Val) c.11534A>T (p.Asp3845Val) c.7718A>T (p.Asp2573Val) c.7271A>T (p.Asp2424Val) c.6608A>T (p.Asp2203Val) c.11123A>T (p.Asp3708Val) | |
| 5 | g.13717499T>C | CA359208347 | DNAH5 | c.12521A>G (p.Asp4174Gly) c.12476A>G (p.Asp4159Gly) c.12629A>G (p.Asp4210Gly) c.11534A>G (p.Asp3845Gly) c.7718A>G (p.Asp2573Gly) c.7271A>G (p.Asp2424Gly) c.6608A>G (p.Asp2203Gly) c.11123A>G (p.Asp3708Gly) | ClinVar dbSNP |
| 5 | g.13717499T>G | CA359208353 | DNAH5 | c.12521A>C (p.Asp4174Ala) c.12476A>C (p.Asp4159Ala) c.12629A>C (p.Asp4210Ala) c.11534A>C (p.Asp3845Ala) c.7718A>C (p.Asp2573Ala) c.7271A>C (p.Asp2424Ala) c.6608A>C (p.Asp2203Ala) c.11123A>C (p.Asp3708Ala) | |
| 5 | g.13717499T= | CA1528407077 | DNAH5 | c.12521A= (p.Asp4174=) c.12476A= (p.Asp4159=) c.12629A= (p.Asp4210=) c.11534A= (p.Asp3845=) c.7718A= (p.Asp2573=) c.7271A= (p.Asp2424=) c.6608A= (p.Asp2203=) c.11123A= (p.Asp3708=) | |
| 5 | g.13717500C>A | CA359208371 | DNAH5 | c.12520G>T (p.Asp4174Tyr) c.12475G>T (p.Asp4159Tyr) c.12628G>T (p.Asp4210Tyr) c.11533G>T (p.Asp3845Tyr) c.7717G>T (p.Asp2573Tyr) c.7270G>T (p.Asp2424Tyr) c.6607G>T (p.Asp2203Tyr) c.11122G>T (p.Asp3708Tyr) | |
| 5 | g.13717500C= | CA1528407078 | DNAH5 | c.12520G= (p.Asp4174=) c.12475G= (p.Asp4159=) c.12628G= (p.Asp4210=) c.11533G= (p.Asp3845=) c.7717G= (p.Asp2573=) c.7270G= (p.Asp2424=) c.6607G= (p.Asp2203=) c.11122G= (p.Asp3708=) | |
| 5 | g.13717500C>G | CA359208373 | DNAH5 | c.12520G>C (p.Asp4174His) c.12475G>C (p.Asp4159His) c.12628G>C (p.Asp4210His) c.11533G>C (p.Asp3845His) c.7717G>C (p.Asp2573His) c.7270G>C (p.Asp2424His) c.6607G>C (p.Asp2203His) c.11122G>C (p.Asp3708His) | |
| 5 | g.13717500C>T | CA359208374 | DNAH5 | c.12520G>A (p.Asp4174Asn) c.12475G>A (p.Asp4159Asn) c.12628G>A (p.Asp4210Asn) c.11533G>A (p.Asp3845Asn) c.7717G>A (p.Asp2573Asn) c.7270G>A (p.Asp2424Asn) c.6607G>A (p.Asp2203Asn) c.11122G>A (p.Asp3708Asn) | dbSNP |
| 5 | g.13717501C>A | CA443254957 | DNAH5 | c.12519G>T (p.Leu4173=) c.12474G>T (p.Leu4158=) c.12627G>T (p.Leu4209=) c.11532G>T (p.Leu3844=) c.7716G>T (p.Leu2572=) c.7269G>T (p.Leu2423=) c.6606G>T (p.Leu2202=) c.11121G>T (p.Leu3707=) | |
| 5 | g.13717501C>G | CA443254958 | DNAH5 | c.12519G>C (p.Leu4173=) c.12474G>C (p.Leu4158=) c.12627G>C (p.Leu4209=) c.11532G>C (p.Leu3844=) c.7716G>C (p.Leu2572=) c.7269G>C (p.Leu2423=) c.6606G>C (p.Leu2202=) c.11121G>C (p.Leu3707=) | |
| 5 | g.13717501C>T | CA443254959 | DNAH5 | c.12519G>A (p.Leu4173=) c.12474G>A (p.Leu4158=) c.12627G>A (p.Leu4209=) c.11532G>A (p.Leu3844=) c.7716G>A (p.Leu2572=) c.7269G>A (p.Leu2423=) c.6606G>A (p.Leu2202=) c.11121G>A (p.Leu3707=) | ClinVar dbSNP |
| 5 | g.13717502A= | CA1528407079 | DNAH5 | c.12518T= (p.Leu4173=) c.12473T= (p.Leu4158=) c.12626T= (p.Leu4209=) c.11531T= (p.Leu3844=) c.7715T= (p.Leu2572=) c.7268T= (p.Leu2423=) c.6605T= (p.Leu2202=) c.11120T= (p.Leu3707=) | |
| 5 | g.13717502A>C | CA359208375 | DNAH5 | c.12518T>G (p.Leu4173Arg) c.12473T>G (p.Leu4158Arg) c.12626T>G (p.Leu4209Arg) c.11531T>G (p.Leu3844Arg) c.7715T>G (p.Leu2572Arg) c.7268T>G (p.Leu2423Arg) c.6605T>G (p.Leu2202Arg) c.11120T>G (p.Leu3707Arg) | |
| 5 | g.13717502A>G | CA359208376 | DNAH5 | c.12518T>C (p.Leu4173Pro) c.12473T>C (p.Leu4158Pro) c.12626T>C (p.Leu4209Pro) c.11531T>C (p.Leu3844Pro) c.7715T>C (p.Leu2572Pro) c.7268T>C (p.Leu2423Pro) c.6605T>C (p.Leu2202Pro) c.11120T>C (p.Leu3707Pro) | dbSNP |
| 5 | g.13717502A>T | CA359208377 | DNAH5 | c.12518T>A (p.Leu4173Gln) c.12473T>A (p.Leu4158Gln) c.12626T>A (p.Leu4209Gln) c.11531T>A (p.Leu3844Gln) c.7715T>A (p.Leu2572Gln) c.7268T>A (p.Leu2423Gln) c.6605T>A (p.Leu2202Gln) c.11120T>A (p.Leu3707Gln) | |
| 5 | g.13717503G>A | CA443254960 | DNAH5 | c.12517C>T (p.Leu4173=) c.12472C>T (p.Leu4158=) c.12625C>T (p.Leu4209=) c.11530C>T (p.Leu3844=) c.7714C>T (p.Leu2572=) c.7267C>T (p.Leu2423=) c.6604C>T (p.Leu2202=) c.11119C>T (p.Leu3707=) | |
| 5 | g.13717503G>C | CA359208378 | DNAH5 | c.12517C>G (p.Leu4173Val) c.12472C>G (p.Leu4158Val) c.12625C>G (p.Leu4209Val) c.11530C>G (p.Leu3844Val) c.7714C>G (p.Leu2572Val) c.7267C>G (p.Leu2423Val) c.6604C>G (p.Leu2202Val) c.11119C>G (p.Leu3707Val) | |
| 5 | g.13717503G>T | CA359208382 | DNAH5 | c.12517C>A (p.Leu4173Met) c.12472C>A (p.Leu4158Met) c.12625C>A (p.Leu4209Met) c.11530C>A (p.Leu3844Met) c.7714C>A (p.Leu2572Met) c.7267C>A (p.Leu2423Met) c.6604C>A (p.Leu2202Met) c.11119C>A (p.Leu3707Met) | gnomAD v4 |
| 5 | g.13717504C>A | CA3201604 | DNAH5 | c.12516G>T (p.Leu4172=) c.12471G>T (p.Leu4157=) c.12624G>T (p.Leu4208=) c.11529G>T (p.Leu3843=) c.7713G>T (p.Leu2571=) c.7266G>T (p.Leu2422=) c.6603G>T (p.Leu2201=) c.11118G>T (p.Leu3706=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13717504C= | CA1528407080 | DNAH5 | c.12516G= (p.Leu4172=) c.12471G= (p.Leu4157=) c.12624G= (p.Leu4208=) c.11529G= (p.Leu3843=) c.7713G= (p.Leu2571=) c.7266G= (p.Leu2422=) c.6603G= (p.Leu2201=) c.11118G= (p.Leu3706=) | |
| 5 | g.13717504C>G | CA443254964 | DNAH5 | c.12516G>C (p.Leu4172=) c.12471G>C (p.Leu4157=) c.12624G>C (p.Leu4208=) c.11529G>C (p.Leu3843=) c.7713G>C (p.Leu2571=) c.7266G>C (p.Leu2422=) c.6603G>C (p.Leu2201=) c.11118G>C (p.Leu3706=) | dbSNP gnomAD v4 |
| 5 | g.13717504C>T | CA443254965 | DNAH5 | c.12516G>A (p.Leu4172=) c.12471G>A (p.Leu4157=) c.12624G>A (p.Leu4208=) c.11529G>A (p.Leu3843=) c.7713G>A (p.Leu2571=) c.7266G>A (p.Leu2422=) c.6603G>A (p.Leu2201=) c.11118G>A (p.Leu3706=) | |
| 5 | g.13717505A>C | CA359208398 | DNAH5 | c.12515T>G (p.Leu4172Arg) c.12470T>G (p.Leu4157Arg) c.12623T>G (p.Leu4208Arg) c.11528T>G (p.Leu3843Arg) c.7712T>G (p.Leu2571Arg) c.7265T>G (p.Leu2422Arg) c.6602T>G (p.Leu2201Arg) c.11117T>G (p.Leu3706Arg) | |
| 5 | g.13717505A>G | CA359208399 | DNAH5 | c.12515T>C (p.Leu4172Pro) c.12470T>C (p.Leu4157Pro) c.12623T>C (p.Leu4208Pro) c.11528T>C (p.Leu3843Pro) c.7712T>C (p.Leu2571Pro) c.7265T>C (p.Leu2422Pro) c.6602T>C (p.Leu2201Pro) c.11117T>C (p.Leu3706Pro) | |
| 5 | g.13717505A>T | CA359208397 | DNAH5 | c.12515T>A (p.Leu4172Gln) c.12470T>A (p.Leu4157Gln) c.12623T>A (p.Leu4208Gln) c.11528T>A (p.Leu3843Gln) c.7712T>A (p.Leu2571Gln) c.7265T>A (p.Leu2422Gln) c.6602T>A (p.Leu2201Gln) c.11117T>A (p.Leu3706Gln) | |
| 5 | g.13717506G>A | CA443254970 | DNAH5 | c.12514C>T (p.Leu4172=) c.12469C>T (p.Leu4157=) c.12622C>T (p.Leu4208=) c.11527C>T (p.Leu3843=) c.7711C>T (p.Leu2571=) c.7264C>T (p.Leu2422=) c.6601C>T (p.Leu2201=) c.11116C>T (p.Leu3706=) | |
| 5 | g.13717506G>C | CA359208400 | DNAH5 | c.12514C>G (p.Leu4172Val) c.12469C>G (p.Leu4157Val) c.12622C>G (p.Leu4208Val) c.11527C>G (p.Leu3843Val) c.7711C>G (p.Leu2571Val) c.7264C>G (p.Leu2422Val) c.6601C>G (p.Leu2201Val) c.11116C>G (p.Leu3706Val) | |
| 5 | g.13717506G>T | CA359208403 | DNAH5 | c.12514C>A (p.Leu4172Met) c.12469C>A (p.Leu4157Met) c.12622C>A (p.Leu4208Met) c.11527C>A (p.Leu3843Met) c.7711C>A (p.Leu2571Met) c.7264C>A (p.Leu2422Met) c.6601C>A (p.Leu2201Met) c.11116C>A (p.Leu3706Met) | |
| 5 | g.13717507G>A | CA113919302 | DNAH5 | c.12513C>T (p.Asp4171=) c.12468C>T (p.Asp4156=) c.12621C>T (p.Asp4207=) c.11526C>T (p.Asp3842=) c.7710C>T (p.Asp2570=) c.7263C>T (p.Asp2421=) c.6600C>T (p.Asp2200=) c.11115C>T (p.Asp3705=) | ClinVar dbSNP |
| 5 | g.13717507G>C | CA359208409 | DNAH5 | c.12513C>G (p.Asp4171Glu) c.12468C>G (p.Asp4156Glu) c.12621C>G (p.Asp4207Glu) c.11526C>G (p.Asp3842Glu) c.7710C>G (p.Asp2570Glu) c.7263C>G (p.Asp2421Glu) c.6600C>G (p.Asp2200Glu) c.11115C>G (p.Asp3705Glu) | ClinVar |
| 5 | g.13717507G= | CA1528407081 | DNAH5 | c.12513C= (p.Asp4171=) c.12468C= (p.Asp4156=) c.12621C= (p.Asp4207=) c.11526C= (p.Asp3842=) c.7710C= (p.Asp2570=) c.7263C= (p.Asp2421=) c.6600C= (p.Asp2200=) c.11115C= (p.Asp3705=) | |
| 5 | g.13717507G>T | CA3201605 | DNAH5 | c.12513C>A (p.Asp4171Glu) c.12468C>A (p.Asp4156Glu) c.12621C>A (p.Asp4207Glu) c.11526C>A (p.Asp3842Glu) c.7710C>A (p.Asp2570Glu) c.7263C>A (p.Asp2421Glu) c.6600C>A (p.Asp2200Glu) c.11115C>A (p.Asp3705Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717508T>A | CA359208410 | DNAH5 | c.12512A>T (p.Asp4171Val) c.12467A>T (p.Asp4156Val) c.12620A>T (p.Asp4207Val) c.11525A>T (p.Asp3842Val) c.7709A>T (p.Asp2570Val) c.7262A>T (p.Asp2421Val) c.6599A>T (p.Asp2200Val) c.11114A>T (p.Asp3705Val) | |
| 5 | g.13717508T>C | CA359208413 | DNAH5 | c.12512A>G (p.Asp4171Gly) c.12467A>G (p.Asp4156Gly) c.12620A>G (p.Asp4207Gly) c.11525A>G (p.Asp3842Gly) c.7709A>G (p.Asp2570Gly) c.7262A>G (p.Asp2421Gly) c.6599A>G (p.Asp2200Gly) c.11114A>G (p.Asp3705Gly) | |
| 5 | g.13717508T>G | CA359208417 | DNAH5 | c.12512A>C (p.Asp4171Ala) c.12467A>C (p.Asp4156Ala) c.12620A>C (p.Asp4207Ala) c.11525A>C (p.Asp3842Ala) c.7709A>C (p.Asp2570Ala) c.7262A>C (p.Asp2421Ala) c.6599A>C (p.Asp2200Ala) c.11114A>C (p.Asp3705Ala) | |
| 5 | g.13717509C>A | CA359208425 | DNAH5 | c.12511G>T (p.Asp4171Tyr) c.12466G>T (p.Asp4156Tyr) c.12619G>T (p.Asp4207Tyr) c.11524G>T (p.Asp3842Tyr) c.7708G>T (p.Asp2570Tyr) c.7261G>T (p.Asp2421Tyr) c.6598G>T (p.Asp2200Tyr) c.11113G>T (p.Asp3705Tyr) | |
| 5 | g.13717509C>G | CA359208429 | DNAH5 | c.12511G>C (p.Asp4171His) c.12466G>C (p.Asp4156His) c.12619G>C (p.Asp4207His) c.11524G>C (p.Asp3842His) c.7708G>C (p.Asp2570His) c.7261G>C (p.Asp2421His) c.6598G>C (p.Asp2200His) c.11113G>C (p.Asp3705His) | |
| 5 | g.13717509C>T | CA359208431 | DNAH5 | c.12511G>A (p.Asp4171Asn) c.12466G>A (p.Asp4156Asn) c.12619G>A (p.Asp4207Asn) c.11524G>A (p.Asp3842Asn) c.7708G>A (p.Asp2570Asn) c.7261G>A (p.Asp2421Asn) c.6598G>A (p.Asp2200Asn) c.11113G>A (p.Asp3705Asn) | gnomAD v4 |
| 5 | g.13717510T>A | CA359208435 | DNAH5 | c.12510A>T (p.Gln4170His) c.12465A>T (p.Gln4155His) c.12618A>T (p.Gln4206His) c.11523A>T (p.Gln3841His) c.7707A>T (p.Gln2569His) c.7260A>T (p.Gln2420His) c.6597A>T (p.Gln2199His) c.11112A>T (p.Gln3704His) | |
| 5 | g.13717510T>C | CA443254984 | DNAH5 | c.12510A>G (p.Gln4170=) c.12465A>G (p.Gln4155=) c.12618A>G (p.Gln4206=) c.11523A>G (p.Gln3841=) c.7707A>G (p.Gln2569=) c.7260A>G (p.Gln2420=) c.6597A>G (p.Gln2199=) c.11112A>G (p.Gln3704=) | |
| 5 | g.13717510T>G | CA359208438 | DNAH5 | c.12510A>C (p.Gln4170His) c.12465A>C (p.Gln4155His) c.12618A>C (p.Gln4206His) c.11523A>C (p.Gln3841His) c.7707A>C (p.Gln2569His) c.7260A>C (p.Gln2420His) c.6597A>C (p.Gln2199His) c.11112A>C (p.Gln3704His) | |
| 5 | g.13717511del | CA2739274570 | DNAH5 | c.12510del (p.Asp4171ThrfsTer5) c.12465del (p.Asp4156ThrfsTer5) c.12618del (p.Asp4207ThrfsTer5) c.11523del (p.Asp3842ThrfsTer5) c.7707del (p.Asp2570ThrfsTer5) c.7260del (p.Asp2421ThrfsTer5) c.6597del (p.Asp2200ThrfsTer5) c.11112del (p.Asp3705ThrfsTer5) | ClinVar |