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.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 |
| 5 | g.13717511T>A | CA359208444 | DNAH5 | c.12509A>T (p.Gln4170Leu) c.12464A>T (p.Gln4155Leu) c.12617A>T (p.Gln4206Leu) c.11522A>T (p.Gln3841Leu) c.7706A>T (p.Gln2569Leu) c.7259A>T (p.Gln2420Leu) c.6596A>T (p.Gln2199Leu) c.11111A>T (p.Gln3704Leu) | |
| 5 | g.13717511T>C | CA359208446 | DNAH5 | c.12509A>G (p.Gln4170Arg) c.12464A>G (p.Gln4155Arg) c.12617A>G (p.Gln4206Arg) c.11522A>G (p.Gln3841Arg) c.7706A>G (p.Gln2569Arg) c.7259A>G (p.Gln2420Arg) c.6596A>G (p.Gln2199Arg) c.11111A>G (p.Gln3704Arg) | gnomAD v4 |
| 5 | g.13717511T>G | CA359208448 | DNAH5 | c.12509A>C (p.Gln4170Pro) c.12464A>C (p.Gln4155Pro) c.12617A>C (p.Gln4206Pro) c.11522A>C (p.Gln3841Pro) c.7706A>C (p.Gln2569Pro) c.7259A>C (p.Gln2420Pro) c.6596A>C (p.Gln2199Pro) c.11111A>C (p.Gln3704Pro) | |
| 5 | g.13717512G>A | CA359208470 | DNAH5 | c.12508C>T (p.Gln4170Ter) c.12463C>T (p.Gln4155Ter) c.12616C>T (p.Gln4206Ter) c.11521C>T (p.Gln3841Ter) c.7705C>T (p.Gln2569Ter) c.7258C>T (p.Gln2420Ter) c.6595C>T (p.Gln2199Ter) c.11110C>T (p.Gln3704Ter) | |
| 5 | g.13717512G>C | CA359208465 | DNAH5 | c.12508C>G (p.Gln4170Glu) c.12463C>G (p.Gln4155Glu) c.12616C>G (p.Gln4206Glu) c.11521C>G (p.Gln3841Glu) c.7705C>G (p.Gln2569Glu) c.7258C>G (p.Gln2420Glu) c.6595C>G (p.Gln2199Glu) c.11110C>G (p.Gln3704Glu) | |
| 5 | g.13717512G>T | CA359208458 | DNAH5 | c.12508C>A (p.Gln4170Lys) c.12463C>A (p.Gln4155Lys) c.12616C>A (p.Gln4206Lys) c.11521C>A (p.Gln3841Lys) c.7705C>A (p.Gln2569Lys) c.7258C>A (p.Gln2420Lys) c.6595C>A (p.Gln2199Lys) c.11110C>A (p.Gln3704Lys) | |
| 5 | g.13717513G>A | CA443254991 | DNAH5 | c.12507C>T (p.Ser4169=) c.12462C>T (p.Ser4154=) c.12615C>T (p.Ser4205=) c.11520C>T (p.Ser3840=) c.7704C>T (p.Ser2568=) c.7257C>T (p.Ser2419=) c.6594C>T (p.Ser2198=) c.11109C>T (p.Ser3703=) | |
| 5 | g.13717513G>C | CA359208472 | DNAH5 | c.12507C>G (p.Ser4169Arg) c.12462C>G (p.Ser4154Arg) c.12615C>G (p.Ser4205Arg) c.11520C>G (p.Ser3840Arg) c.7704C>G (p.Ser2568Arg) c.7257C>G (p.Ser2419Arg) c.6594C>G (p.Ser2198Arg) c.11109C>G (p.Ser3703Arg) | |
| 5 | g.13717513G>T | CA359208477 | DNAH5 | c.12507C>A (p.Ser4169Arg) c.12462C>A (p.Ser4154Arg) c.12615C>A (p.Ser4205Arg) c.11520C>A (p.Ser3840Arg) c.7704C>A (p.Ser2568Arg) c.7257C>A (p.Ser2419Arg) c.6594C>A (p.Ser2198Arg) c.11109C>A (p.Ser3703Arg) | |
| 5 | g.13717514C>A | CA359208480 | DNAH5 | c.12506G>T (p.Ser4169Ile) c.12461G>T (p.Ser4154Ile) c.12614G>T (p.Ser4205Ile) c.11519G>T (p.Ser3840Ile) c.7703G>T (p.Ser2568Ile) c.7256G>T (p.Ser2419Ile) c.6593G>T (p.Ser2198Ile) c.11108G>T (p.Ser3703Ile) | gnomAD v4 |
| 5 | g.13717514C>G | CA359208482 | DNAH5 | c.12506G>C (p.Ser4169Thr) c.12461G>C (p.Ser4154Thr) c.12614G>C (p.Ser4205Thr) c.11519G>C (p.Ser3840Thr) c.7703G>C (p.Ser2568Thr) c.7256G>C (p.Ser2419Thr) c.6593G>C (p.Ser2198Thr) c.11108G>C (p.Ser3703Thr) | |
| 5 | g.13717514C>T | CA359208485 | DNAH5 | c.12506G>A (p.Ser4169Asn) c.12461G>A (p.Ser4154Asn) c.12614G>A (p.Ser4205Asn) c.11519G>A (p.Ser3840Asn) c.7703G>A (p.Ser2568Asn) c.7256G>A (p.Ser2419Asn) c.6593G>A (p.Ser2198Asn) c.11108G>A (p.Ser3703Asn) | |
| 5 | g.13717515T>A | CA359208489 | DNAH5 | c.12505A>T (p.Ser4169Cys) c.12460A>T (p.Ser4154Cys) c.12613A>T (p.Ser4205Cys) c.11518A>T (p.Ser3840Cys) c.7702A>T (p.Ser2568Cys) c.7255A>T (p.Ser2419Cys) c.6592A>T (p.Ser2198Cys) c.11107A>T (p.Ser3703Cys) | dbSNP gnomAD v2 |
| 5 | g.13717515T>C | CA359208494 | DNAH5 | c.12505A>G (p.Ser4169Gly) c.12460A>G (p.Ser4154Gly) c.12613A>G (p.Ser4205Gly) c.11518A>G (p.Ser3840Gly) c.7702A>G (p.Ser2568Gly) c.7255A>G (p.Ser2419Gly) c.6592A>G (p.Ser2198Gly) c.11107A>G (p.Ser3703Gly) | |
| 5 | g.13717515T>G | CA359208499 | DNAH5 | c.12505A>C (p.Ser4169Arg) c.12460A>C (p.Ser4154Arg) c.12613A>C (p.Ser4205Arg) c.11518A>C (p.Ser3840Arg) c.7702A>C (p.Ser2568Arg) c.7255A>C (p.Ser2419Arg) c.6592A>C (p.Ser2198Arg) c.11107A>C (p.Ser3703Arg) | |
| 5 | g.13717515T= | CA1528407082 | DNAH5 | c.12505A= (p.Ser4169=) c.12460A= (p.Ser4154=) c.12613A= (p.Ser4205=) c.11518A= (p.Ser3840=) c.7702A= (p.Ser2568=) c.7255A= (p.Ser2419=) c.6592A= (p.Ser2198=) c.11107A= (p.Ser3703=) | |
| 5 | g.13717516G>A | CA443254994 | DNAH5 | c.12504C>T (p.Val4168=) c.12459C>T (p.Val4153=) c.12612C>T (p.Val4204=) c.11517C>T (p.Val3839=) c.7701C>T (p.Val2567=) c.7254C>T (p.Val2418=) c.6591C>T (p.Val2197=) c.11106C>T (p.Val3702=) | |
| 5 | g.13717516G>C | CA443254995 | DNAH5 | c.12504C>G (p.Val4168=) c.12459C>G (p.Val4153=) c.12612C>G (p.Val4204=) c.11517C>G (p.Val3839=) c.7701C>G (p.Val2567=) c.7254C>G (p.Val2418=) c.6591C>G (p.Val2197=) c.11106C>G (p.Val3702=) | |
| 5 | g.13717516G>T | CA443254997 | DNAH5 | c.12504C>A (p.Val4168=) c.12459C>A (p.Val4153=) c.12612C>A (p.Val4204=) c.11517C>A (p.Val3839=) c.7701C>A (p.Val2567=) c.7254C>A (p.Val2418=) c.6591C>A (p.Val2197=) c.11106C>A (p.Val3702=) | |
| 5 | g.13717517A>C | CA359208503 | DNAH5 | c.12503T>G (p.Val4168Gly) c.12458T>G (p.Val4153Gly) c.12611T>G (p.Val4204Gly) c.11516T>G (p.Val3839Gly) c.7700T>G (p.Val2567Gly) c.7253T>G (p.Val2418Gly) c.6590T>G (p.Val2197Gly) c.11105T>G (p.Val3702Gly) | |
| 5 | g.13717517A>G | CA359208506 | DNAH5 | c.12503T>C (p.Val4168Ala) c.12458T>C (p.Val4153Ala) c.12611T>C (p.Val4204Ala) c.11516T>C (p.Val3839Ala) c.7700T>C (p.Val2567Ala) c.7253T>C (p.Val2418Ala) c.6590T>C (p.Val2197Ala) c.11105T>C (p.Val3702Ala) | gnomAD v4 |
| 5 | g.13717517A>T | CA359208511 | DNAH5 | c.12503T>A (p.Val4168Asp) c.12458T>A (p.Val4153Asp) c.12611T>A (p.Val4204Asp) c.11516T>A (p.Val3839Asp) c.7700T>A (p.Val2567Asp) c.7253T>A (p.Val2418Asp) c.6590T>A (p.Val2197Asp) c.11105T>A (p.Val3702Asp) | |
| 5 | g.13717518C>A | CA359208516 | DNAH5 | c.12502G>T (p.Val4168Phe) c.12457G>T (p.Val4153Phe) c.12610G>T (p.Val4204Phe) c.11515G>T (p.Val3839Phe) c.7699G>T (p.Val2567Phe) c.7252G>T (p.Val2418Phe) c.6589G>T (p.Val2197Phe) c.11104G>T (p.Val3702Phe) | gnomAD v4 |
| 5 | g.13717518C= | CA1528407083 | DNAH5 | c.12502G= (p.Val4168=) c.12457G= (p.Val4153=) c.12610G= (p.Val4204=) c.11515G= (p.Val3839=) c.7699G= (p.Val2567=) c.7252G= (p.Val2418=) c.6589G= (p.Val2197=) c.11104G= (p.Val3702=) | |
| 5 | g.13717518C>G | CA359208519 | DNAH5 | c.12502G>C (p.Val4168Leu) c.12457G>C (p.Val4153Leu) c.12610G>C (p.Val4204Leu) c.11515G>C (p.Val3839Leu) c.7699G>C (p.Val2567Leu) c.7252G>C (p.Val2418Leu) c.6589G>C (p.Val2197Leu) c.11104G>C (p.Val3702Leu) | |
| 5 | g.13717518C>T | CA3201606 | DNAH5 | c.12502G>A (p.Val4168Ile) c.12457G>A (p.Val4153Ile) c.12610G>A (p.Val4204Ile) c.11515G>A (p.Val3839Ile) c.7699G>A (p.Val2567Ile) c.7252G>A (p.Val2418Ile) c.6589G>A (p.Val2197Ile) c.11104G>A (p.Val3702Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717519A>C | CA443255003 | DNAH5 | c.12501T>G (p.Gly4167=) c.12456T>G (p.Gly4152=) c.12609T>G (p.Gly4203=) c.11514T>G (p.Gly3838=) c.7698T>G (p.Gly2566=) c.7251T>G (p.Gly2417=) c.6588T>G (p.Gly2196=) c.11103T>G (p.Gly3701=) | |
| 5 | g.13717519A>G | CA443255005 | DNAH5 | c.12501T>C (p.Gly4167=) c.12456T>C (p.Gly4152=) c.12609T>C (p.Gly4203=) c.11514T>C (p.Gly3838=) c.7698T>C (p.Gly2566=) c.7251T>C (p.Gly2417=) c.6588T>C (p.Gly2196=) c.11103T>C (p.Gly3701=) | ClinVar |
| 5 | g.13717519A>T | CA443255006 | DNAH5 | c.12501T>A (p.Gly4167=) c.12456T>A (p.Gly4152=) c.12609T>A (p.Gly4203=) c.11514T>A (p.Gly3838=) c.7698T>A (p.Gly2566=) c.7251T>A (p.Gly2417=) c.6588T>A (p.Gly2196=) c.11103T>A (p.Gly3701=) | |
| 5 | g.13717520C>A | CA359208524 | DNAH5 | c.12500G>T (p.Gly4167Val) c.12455G>T (p.Gly4152Val) c.12608G>T (p.Gly4203Val) c.11513G>T (p.Gly3838Val) c.7697G>T (p.Gly2566Val) c.7250G>T (p.Gly2417Val) c.6587G>T (p.Gly2196Val) c.11102G>T (p.Gly3701Val) | |
| 5 | g.13717520C= | CA1528407084 | DNAH5 | c.12500G= (p.Gly4167=) c.12455G= (p.Gly4152=) c.12608G= (p.Gly4203=) c.11513G= (p.Gly3838=) c.7697G= (p.Gly2566=) c.7250G= (p.Gly2417=) c.6587G= (p.Gly2196=) c.11102G= (p.Gly3701=) | |
| 5 | g.13717520C>G | CA359208525 | DNAH5 | c.12500G>C (p.Gly4167Ala) c.12455G>C (p.Gly4152Ala) c.12608G>C (p.Gly4203Ala) c.11513G>C (p.Gly3838Ala) c.7697G>C (p.Gly2566Ala) c.7250G>C (p.Gly2417Ala) c.6587G>C (p.Gly2196Ala) c.11102G>C (p.Gly3701Ala) | dbSNP gnomAD v4 |
| 5 | g.13717520C>T | CA359208520 | DNAH5 | c.12500G>A (p.Gly4167Asp) c.12455G>A (p.Gly4152Asp) c.12608G>A (p.Gly4203Asp) c.11513G>A (p.Gly3838Asp) c.7697G>A (p.Gly2566Asp) c.7250G>A (p.Gly2417Asp) c.6587G>A (p.Gly2196Asp) c.11102G>A (p.Gly3701Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13717521C>A | CA359208532 | DNAH5 | c.12500-1G>T (n.12500-1G>T) c.12455-1G>T (n.12455-1G>T) c.12608-1G>T (n.12608-1G>T) c.11513-1G>T (n.11513-1G>T) c.7697-1G>T (n.7697-1G>T) c.7250-1G>T (n.7250-1G>T) c.6587-1G>T (n.6587-1G>T) c.11102-1G>T (n.11102-1G>T) | |
| 5 | g.13717521C= | CA1528407085 | DNAH5 | c.12500-1G= (n.12500-1G=) c.12455-1G= (n.12455-1G=) c.12608-1G= (n.12608-1G=) c.11513-1G= (n.11513-1G=) c.7697-1G= (n.7697-1G=) c.7250-1G= (n.7250-1G=) c.6587-1G= (n.6587-1G=) c.11102-1G= (n.11102-1G=) | |
| 5 | g.13717521C>G | CA359208535 | DNAH5 | c.12500-1G>C (n.12500-1G>C) c.12455-1G>C (n.12455-1G>C) c.12608-1G>C (n.12608-1G>C) c.11513-1G>C (n.11513-1G>C) c.7697-1G>C (n.7697-1G>C) c.7250-1G>C (n.7250-1G>C) c.6587-1G>C (n.6587-1G>C) c.11102-1G>C (n.11102-1G>C) | |
| 5 | g.13717521C>T | CA359208538 | DNAH5 | c.12500-1G>A (n.12500-1G>A) c.12455-1G>A (n.12455-1G>A) c.12608-1G>A (n.12608-1G>A) c.11513-1G>A (n.11513-1G>A) c.7697-1G>A (n.7697-1G>A) c.7250-1G>A (n.7250-1G>A) c.6587-1G>A (n.6587-1G>A) c.11102-1G>A (n.11102-1G>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13717522T>A | CA359208541 | DNAH5 | c.12500-2A>T (n.12500-2A>T) c.12455-2A>T (n.12455-2A>T) c.12608-2A>T (n.12608-2A>T) c.11513-2A>T (n.11513-2A>T) c.7697-2A>T (n.7697-2A>T) c.7250-2A>T (n.7250-2A>T) c.6587-2A>T (n.6587-2A>T) c.11102-2A>T (n.11102-2A>T) | |
| 5 | g.13717522T>C | CA359208543 | DNAH5 | c.12500-2A>G (n.12500-2A>G) c.12455-2A>G (n.12455-2A>G) c.12608-2A>G (n.12608-2A>G) c.11513-2A>G (n.11513-2A>G) c.7697-2A>G (n.7697-2A>G) c.7250-2A>G (n.7250-2A>G) c.6587-2A>G (n.6587-2A>G) c.11102-2A>G (n.11102-2A>G) | ClinVar |
| 5 | g.13717522T>G | CA359208545 | DNAH5 | c.12500-2A>C (n.12500-2A>C) c.12455-2A>C (n.12455-2A>C) c.12608-2A>C (n.12608-2A>C) c.11513-2A>C (n.11513-2A>C) c.7697-2A>C (n.7697-2A>C) c.7250-2A>C (n.7250-2A>C) c.6587-2A>C (n.6587-2A>C) c.11102-2A>C (n.11102-2A>C) |