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.13717402C>A | CA359207195 | DNAH5 | c.12618G>T (p.Trp4206Cys) c.12573G>T (p.Trp4191Cys) c.12726G>T (p.Trp4242Cys) c.11631G>T (p.Trp3877Cys) c.7815G>T (p.Trp2605Cys) c.7368G>T (p.Trp2456Cys) c.6705G>T (p.Trp2235Cys) c.11220G>T (p.Trp3740Cys) | dbSNP |
| 5 | g.13717402C>G | CA359207209 | DNAH5 | c.12618G>C (p.Trp4206Cys) c.12573G>C (p.Trp4191Cys) c.12726G>C (p.Trp4242Cys) c.11631G>C (p.Trp3877Cys) c.7815G>C (p.Trp2605Cys) c.7368G>C (p.Trp2456Cys) c.6705G>C (p.Trp2235Cys) c.11220G>C (p.Trp3740Cys) | |
| 5 | g.13717402C>T | CA359207201 | DNAH5 | c.12618G>A (p.Trp4206Ter) c.12573G>A (p.Trp4191Ter) c.12726G>A (p.Trp4242Ter) c.11631G>A (p.Trp3877Ter) c.7815G>A (p.Trp2605Ter) c.7368G>A (p.Trp2456Ter) c.6705G>A (p.Trp2235Ter) c.11220G>A (p.Trp3740Ter) | |
| 5 | g.13717403C>A | CA359207211 | DNAH5 | c.12617G>T (p.Trp4206Leu) c.12572G>T (p.Trp4191Leu) c.12725G>T (p.Trp4242Leu) c.11630G>T (p.Trp3877Leu) c.7814G>T (p.Trp2605Leu) c.7367G>T (p.Trp2456Leu) c.6704G>T (p.Trp2235Leu) c.11219G>T (p.Trp3740Leu) | COSMIC |
| 5 | g.13717403C= | CA1528407031 | DNAH5 | c.12617G= (p.Trp4206=) c.12572G= (p.Trp4191=) c.12725G= (p.Trp4242=) c.11630G= (p.Trp3877=) c.7814G= (p.Trp2605=) c.7367G= (p.Trp2456=) c.6704G= (p.Trp2235=) c.11219G= (p.Trp3740=) | |
| 5 | g.13717403C>G | CA359207213 | DNAH5 | c.12617G>C (p.Trp4206Ser) c.12572G>C (p.Trp4191Ser) c.12725G>C (p.Trp4242Ser) c.11630G>C (p.Trp3877Ser) c.7814G>C (p.Trp2605Ser) c.7367G>C (p.Trp2456Ser) c.6704G>C (p.Trp2235Ser) c.11219G>C (p.Trp3740Ser) | |
| 5 | g.13717403C>T | CA3201583 | DNAH5 | c.12617G>A (p.Trp4206Ter) c.12572G>A (p.Trp4191Ter) c.12725G>A (p.Trp4242Ter) c.11630G>A (p.Trp3877Ter) c.7814G>A (p.Trp2605Ter) c.7367G>A (p.Trp2456Ter) c.6704G>A (p.Trp2235Ter) c.11219G>A (p.Trp3740Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13717404A>C | CA359207225 | DNAH5 | c.12616T>G (p.Trp4206Gly) c.12571T>G (p.Trp4191Gly) c.12724T>G (p.Trp4242Gly) c.11629T>G (p.Trp3877Gly) c.7813T>G (p.Trp2605Gly) c.7366T>G (p.Trp2456Gly) c.6703T>G (p.Trp2235Gly) c.11218T>G (p.Trp3740Gly) | |
| 5 | g.13717404A>G | CA359207228 | DNAH5 | c.12616T>C (p.Trp4206Arg) c.12571T>C (p.Trp4191Arg) c.12724T>C (p.Trp4242Arg) c.11629T>C (p.Trp3877Arg) c.7813T>C (p.Trp2605Arg) c.7366T>C (p.Trp2456Arg) c.6703T>C (p.Trp2235Arg) c.11218T>C (p.Trp3740Arg) | |
| 5 | g.13717404A>T | CA359207233 | DNAH5 | c.12616T>A (p.Trp4206Arg) c.12571T>A (p.Trp4191Arg) c.12724T>A (p.Trp4242Arg) c.11629T>A (p.Trp3877Arg) c.7813T>A (p.Trp2605Arg) c.7366T>A (p.Trp2456Arg) c.6703T>A (p.Trp2235Arg) c.11218T>A (p.Trp3740Arg) | |
| 5 | g.13717405C>A | CA443254634 | DNAH5 | c.12615G>T (p.Gly4205=) c.12570G>T (p.Gly4190=) c.12723G>T (p.Gly4241=) c.11628G>T (p.Gly3876=) c.7812G>T (p.Gly2604=) c.7365G>T (p.Gly2455=) c.6702G>T (p.Gly2234=) c.11217G>T (p.Gly3739=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13717405C= | CA1528407032 | DNAH5 | c.12615G= (p.Gly4205=) c.12570G= (p.Gly4190=) c.12723G= (p.Gly4241=) c.11628G= (p.Gly3876=) c.7812G= (p.Gly2604=) c.7365G= (p.Gly2455=) c.6702G= (p.Gly2234=) c.11217G= (p.Gly3739=) | |
| 5 | g.13717405C>G | CA443254637 | DNAH5 | c.12615G>C (p.Gly4205=) c.12570G>C (p.Gly4190=) c.12723G>C (p.Gly4241=) c.11628G>C (p.Gly3876=) c.7812G>C (p.Gly2604=) c.7365G>C (p.Gly2455=) c.6702G>C (p.Gly2234=) c.11217G>C (p.Gly3739=) | |
| 5 | g.13717405C>T | CA3201584 | DNAH5 | c.12615G>A (p.Gly4205=) c.12570G>A (p.Gly4190=) c.12723G>A (p.Gly4241=) c.11628G>A (p.Gly3876=) c.7812G>A (p.Gly2604=) c.7365G>A (p.Gly2455=) c.6702G>A (p.Gly2234=) c.11217G>A (p.Gly3739=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717406C>A | CA113919224 | DNAH5 | c.12614G>T (p.Gly4205Val) c.12569G>T (p.Gly4190Val) c.12722G>T (p.Gly4241Val) c.11627G>T (p.Gly3876Val) c.7811G>T (p.Gly2604Val) c.7364G>T (p.Gly2455Val) c.6701G>T (p.Gly2234Val) c.11216G>T (p.Gly3739Val) | ClinVar dbSNP |
| 5 | g.13717406C= | CA1528407033 | DNAH5 | c.12614G= (p.Gly4205=) c.12569G= (p.Gly4190=) c.12722G= (p.Gly4241=) c.11627G= (p.Gly3876=) c.7811G= (p.Gly2604=) c.7364G= (p.Gly2455=) c.6701G= (p.Gly2234=) c.11216G= (p.Gly3739=) | |
| 5 | g.13717406C>G | CA359207250 | DNAH5 | c.12614G>C (p.Gly4205Ala) c.12569G>C (p.Gly4190Ala) c.12722G>C (p.Gly4241Ala) c.11627G>C (p.Gly3876Ala) c.7811G>C (p.Gly2604Ala) c.7364G>C (p.Gly2455Ala) c.6701G>C (p.Gly2234Ala) c.11216G>C (p.Gly3739Ala) | |
| 5 | g.13717406C>T | CA359207255 | DNAH5 | c.12614G>A (p.Gly4205Glu) c.12569G>A (p.Gly4190Glu) c.12722G>A (p.Gly4241Glu) c.11627G>A (p.Gly3876Glu) c.7811G>A (p.Gly2604Glu) c.7364G>A (p.Gly2455Glu) c.6701G>A (p.Gly2234Glu) c.11216G>A (p.Gly3739Glu) | |
| 5 | g.13717407C>A | CA359207276 | DNAH5 | c.12613G>T (p.Gly4205Trp) c.12568G>T (p.Gly4190Trp) c.12721G>T (p.Gly4241Trp) c.11626G>T (p.Gly3876Trp) c.7810G>T (p.Gly2604Trp) c.7363G>T (p.Gly2455Trp) c.6700G>T (p.Gly2234Trp) c.11215G>T (p.Gly3739Trp) | |
| 5 | g.13717407C>G | CA359207277 | DNAH5 | c.12613G>C (p.Gly4205Arg) c.12568G>C (p.Gly4190Arg) c.12721G>C (p.Gly4241Arg) c.11626G>C (p.Gly3876Arg) c.7810G>C (p.Gly2604Arg) c.7363G>C (p.Gly2455Arg) c.6700G>C (p.Gly2234Arg) c.11215G>C (p.Gly3739Arg) | |
| 5 | g.13717407C>T | CA359207260 | DNAH5 | c.12613G>A (p.Gly4205Arg) c.12568G>A (p.Gly4190Arg) c.12721G>A (p.Gly4241Arg) c.11626G>A (p.Gly3876Arg) c.7810G>A (p.Gly2604Arg) c.7363G>A (p.Gly2455Arg) c.6700G>A (p.Gly2234Arg) c.11215G>A (p.Gly3739Arg) | |
| 5 | g.13717408C>A | CA443254645 | DNAH5 | c.12612G>T (p.Leu4204=) c.12567G>T (p.Leu4189=) c.12720G>T (p.Leu4240=) c.11625G>T (p.Leu3875=) c.7809G>T (p.Leu2603=) c.7362G>T (p.Leu2454=) c.6699G>T (p.Leu2233=) c.11214G>T (p.Leu3738=) | |
| 5 | g.13717408C>G | CA443254647 | DNAH5 | c.12612G>C (p.Leu4204=) c.12567G>C (p.Leu4189=) c.12720G>C (p.Leu4240=) c.11625G>C (p.Leu3875=) c.7809G>C (p.Leu2603=) c.7362G>C (p.Leu2454=) c.6699G>C (p.Leu2233=) c.11214G>C (p.Leu3738=) | |
| 5 | g.13717408C>T | CA443254651 | DNAH5 | c.12612G>A (p.Leu4204=) c.12567G>A (p.Leu4189=) c.12720G>A (p.Leu4240=) c.11625G>A (p.Leu3875=) c.7809G>A (p.Leu2603=) c.7362G>A (p.Leu2454=) c.6699G>A (p.Leu2233=) c.11214G>A (p.Leu3738=) | |
| 5 | g.13717409A>C | CA359207280 | DNAH5 | c.12611T>G (p.Leu4204Arg) c.12566T>G (p.Leu4189Arg) c.12719T>G (p.Leu4240Arg) c.11624T>G (p.Leu3875Arg) c.7808T>G (p.Leu2603Arg) c.7361T>G (p.Leu2454Arg) c.6698T>G (p.Leu2233Arg) c.11213T>G (p.Leu3738Arg) | |
| 5 | g.13717409A>G | CA359207281 | DNAH5 | c.12611T>C (p.Leu4204Pro) c.12566T>C (p.Leu4189Pro) c.12719T>C (p.Leu4240Pro) c.11624T>C (p.Leu3875Pro) c.7808T>C (p.Leu2603Pro) c.7361T>C (p.Leu2454Pro) c.6698T>C (p.Leu2233Pro) c.11213T>C (p.Leu3738Pro) | |
| 5 | g.13717409A>T | CA359207288 | DNAH5 | c.12611T>A (p.Leu4204Gln) c.12566T>A (p.Leu4189Gln) c.12719T>A (p.Leu4240Gln) c.11624T>A (p.Leu3875Gln) c.7808T>A (p.Leu2603Gln) c.7361T>A (p.Leu2454Gln) c.6698T>A (p.Leu2233Gln) c.11213T>A (p.Leu3738Gln) | |
| 5 | g.13717410G>A | CA443254657 | DNAH5 | c.12610C>T (p.Leu4204=) c.12565C>T (p.Leu4189=) c.12718C>T (p.Leu4240=) c.11623C>T (p.Leu3875=) c.7807C>T (p.Leu2603=) c.7360C>T (p.Leu2454=) c.6697C>T (p.Leu2233=) c.11212C>T (p.Leu3738=) | |
| 5 | g.13717410G>C | CA359207292 | DNAH5 | c.12610C>G (p.Leu4204Val) c.12565C>G (p.Leu4189Val) c.12718C>G (p.Leu4240Val) c.11623C>G (p.Leu3875Val) c.7807C>G (p.Leu2603Val) c.7360C>G (p.Leu2454Val) c.6697C>G (p.Leu2233Val) c.11212C>G (p.Leu3738Val) | |
| 5 | g.13717410G>T | CA359207303 | DNAH5 | c.12610C>A (p.Leu4204Met) c.12565C>A (p.Leu4189Met) c.12718C>A (p.Leu4240Met) c.11623C>A (p.Leu3875Met) c.7807C>A (p.Leu2603Met) c.7360C>A (p.Leu2454Met) c.6697C>A (p.Leu2233Met) c.11212C>A (p.Leu3738Met) | COSMIC |
| 5 | g.13717411G>A | CA443254663 | DNAH5 | c.12609C>T (p.Ala4203=) c.12564C>T (p.Ala4188=) c.12717C>T (p.Ala4239=) c.11622C>T (p.Ala3874=) c.7806C>T (p.Ala2602=) c.7359C>T (p.Ala2453=) c.6696C>T (p.Ala2232=) c.11211C>T (p.Ala3737=) | ClinVar |
| 5 | g.13717411G>C | CA443254669 | DNAH5 | c.12609C>G (p.Ala4203=) c.12564C>G (p.Ala4188=) c.12717C>G (p.Ala4239=) c.11622C>G (p.Ala3874=) c.7806C>G (p.Ala2602=) c.7359C>G (p.Ala2453=) c.6696C>G (p.Ala2232=) c.11211C>G (p.Ala3737=) | |
| 5 | g.13717411G>T | CA443254665 | DNAH5 | c.12609C>A (p.Ala4203=) c.12564C>A (p.Ala4188=) c.12717C>A (p.Ala4239=) c.11622C>A (p.Ala3874=) c.7806C>A (p.Ala2602=) c.7359C>A (p.Ala2453=) c.6696C>A (p.Ala2232=) c.11211C>A (p.Ala3737=) | |
| 5 | g.13717412G>A | CA3201585 | DNAH5 | c.12608C>T (p.Ala4203Val) c.12563C>T (p.Ala4188Val) c.12716C>T (p.Ala4239Val) c.11621C>T (p.Ala3874Val) c.7805C>T (p.Ala2602Val) c.7358C>T (p.Ala2453Val) c.6695C>T (p.Ala2232Val) c.11210C>T (p.Ala3737Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13717412G>C | CA359207314 | DNAH5 | c.12608C>G (p.Ala4203Gly) c.12563C>G (p.Ala4188Gly) c.12716C>G (p.Ala4239Gly) c.11621C>G (p.Ala3874Gly) c.7805C>G (p.Ala2602Gly) c.7358C>G (p.Ala2453Gly) c.6695C>G (p.Ala2232Gly) c.11210C>G (p.Ala3737Gly) | |
| 5 | g.13717412G= | CA1528407034 | DNAH5 | c.12608C= (p.Ala4203=) c.12563C= (p.Ala4188=) c.12716C= (p.Ala4239=) c.11621C= (p.Ala3874=) c.7805C= (p.Ala2602=) c.7358C= (p.Ala2453=) c.6695C= (p.Ala2232=) c.11210C= (p.Ala3737=) | |
| 5 | g.13717412G>T | CA359207311 | DNAH5 | c.12608C>A (p.Ala4203Asp) c.12563C>A (p.Ala4188Asp) c.12716C>A (p.Ala4239Asp) c.11621C>A (p.Ala3874Asp) c.7805C>A (p.Ala2602Asp) c.7358C>A (p.Ala2453Asp) c.6695C>A (p.Ala2232Asp) c.11210C>A (p.Ala3737Asp) | |
| 5 | g.13717413C>A | CA359207315 | DNAH5 | c.12607G>T (p.Ala4203Ser) c.12562G>T (p.Ala4188Ser) c.12715G>T (p.Ala4239Ser) c.11620G>T (p.Ala3874Ser) c.7804G>T (p.Ala2602Ser) c.7357G>T (p.Ala2453Ser) c.6694G>T (p.Ala2232Ser) c.11209G>T (p.Ala3737Ser) | |
| 5 | g.13717413C>G | CA359207316 | DNAH5 | c.12607G>C (p.Ala4203Pro) c.12562G>C (p.Ala4188Pro) c.12715G>C (p.Ala4239Pro) c.11620G>C (p.Ala3874Pro) c.7804G>C (p.Ala2602Pro) c.7357G>C (p.Ala2453Pro) c.6694G>C (p.Ala2232Pro) c.11209G>C (p.Ala3737Pro) | |
| 5 | g.13717413C>T | CA359207320 | DNAH5 | c.12607G>A (p.Ala4203Thr) c.12562G>A (p.Ala4188Thr) c.12715G>A (p.Ala4239Thr) c.11620G>A (p.Ala3874Thr) c.7804G>A (p.Ala2602Thr) c.7357G>A (p.Ala2453Thr) c.6694G>A (p.Ala2232Thr) c.11209G>A (p.Ala3737Thr) | gnomAD v4 |
| 5 | g.13717414A>C | CA443254680 | DNAH5 | c.12606T>G (p.Gly4202=) c.12561T>G (p.Gly4187=) c.12714T>G (p.Gly4238=) c.11619T>G (p.Gly3873=) c.7803T>G (p.Gly2601=) c.7356T>G (p.Gly2452=) c.6693T>G (p.Gly2231=) c.11208T>G (p.Gly3736=) | |
| 5 | g.13717414A>G | CA443254681 | DNAH5 | c.12606T>C (p.Gly4202=) c.12561T>C (p.Gly4187=) c.12714T>C (p.Gly4238=) c.11619T>C (p.Gly3873=) c.7803T>C (p.Gly2601=) c.7356T>C (p.Gly2452=) c.6693T>C (p.Gly2231=) c.11208T>C (p.Gly3736=) | |
| 5 | g.13717414A>T | CA443254682 | DNAH5 | c.12606T>A (p.Gly4202=) c.12561T>A (p.Gly4187=) c.12714T>A (p.Gly4238=) c.11619T>A (p.Gly3873=) c.7803T>A (p.Gly2601=) c.7356T>A (p.Gly2452=) c.6693T>A (p.Gly2231=) c.11208T>A (p.Gly3736=) | gnomAD v4 |
| 5 | g.13717415C>A | CA359207338 | DNAH5 | c.12605G>T (p.Gly4202Val) c.12560G>T (p.Gly4187Val) c.12713G>T (p.Gly4238Val) c.11618G>T (p.Gly3873Val) c.7802G>T (p.Gly2601Val) c.7355G>T (p.Gly2452Val) c.6692G>T (p.Gly2231Val) c.11207G>T (p.Gly3736Val) | |
| 5 | g.13717415C>G | CA359207345 | DNAH5 | c.12605G>C (p.Gly4202Ala) c.12560G>C (p.Gly4187Ala) c.12713G>C (p.Gly4238Ala) c.11618G>C (p.Gly3873Ala) c.7802G>C (p.Gly2601Ala) c.7355G>C (p.Gly2452Ala) c.6692G>C (p.Gly2231Ala) c.11207G>C (p.Gly3736Ala) | |
| 5 | g.13717415C>T | CA359207346 | DNAH5 | c.12605G>A (p.Gly4202Asp) c.12560G>A (p.Gly4187Asp) c.12713G>A (p.Gly4238Asp) c.11618G>A (p.Gly3873Asp) c.7802G>A (p.Gly2601Asp) c.7355G>A (p.Gly2452Asp) c.6692G>A (p.Gly2231Asp) c.11207G>A (p.Gly3736Asp) | |
| 5 | g.13717416C>A | CA359207352 | DNAH5 | c.12604G>T (p.Gly4202Cys) c.12559G>T (p.Gly4187Cys) c.12712G>T (p.Gly4238Cys) c.11617G>T (p.Gly3873Cys) c.7801G>T (p.Gly2601Cys) c.7354G>T (p.Gly2452Cys) c.6691G>T (p.Gly2231Cys) c.11206G>T (p.Gly3736Cys) | |
| 5 | g.13717416C= | CA1528407035 | DNAH5 | c.12604G= (p.Gly4202=) c.12559G= (p.Gly4187=) c.12712G= (p.Gly4238=) c.11617G= (p.Gly3873=) c.7801G= (p.Gly2601=) c.7354G= (p.Gly2452=) c.6691G= (p.Gly2231=) c.11206G= (p.Gly3736=) | |
| 5 | g.13717416C>G | CA359207361 | DNAH5 | c.12604G>C (p.Gly4202Arg) c.12559G>C (p.Gly4187Arg) c.12712G>C (p.Gly4238Arg) c.11617G>C (p.Gly3873Arg) c.7801G>C (p.Gly2601Arg) c.7354G>C (p.Gly2452Arg) c.6691G>C (p.Gly2231Arg) c.11206G>C (p.Gly3736Arg) | |
| 5 | g.13717416C>T | CA3201586 | DNAH5 | c.12604G>A (p.Gly4202Ser) c.12559G>A (p.Gly4187Ser) c.12712G>A (p.Gly4238Ser) c.11617G>A (p.Gly3873Ser) c.7801G>A (p.Gly2601Ser) c.7354G>A (p.Gly2452Ser) c.6691G>A (p.Gly2231Ser) c.11206G>A (p.Gly3736Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |