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.13717313A>C | CA359205821 | DNAH5 | c.12705+2T>G (n.12705+2T>G) c.12660+2T>G (n.12660+2T>G) c.12813+2T>G (n.12813+2T>G) c.11718+2T>G (n.11718+2T>G) c.7902+2T>G (n.7902+2T>G) c.7455+2T>G (n.7455+2T>G) c.6792+2T>G (n.6792+2T>G) c.11307+2T>G (n.11307+2T>G) | |
| 5 | g.13717313A>G | CA359205815 | DNAH5 | c.12705+2T>C (n.12705+2T>C) c.12660+2T>C (n.12660+2T>C) c.12813+2T>C (n.12813+2T>C) c.11718+2T>C (n.11718+2T>C) c.7902+2T>C (n.7902+2T>C) c.7455+2T>C (n.7455+2T>C) c.6792+2T>C (n.6792+2T>C) c.11307+2T>C (n.11307+2T>C) | gnomAD v4 |
| 5 | g.13717313A>T | CA359205813 | DNAH5 | c.12705+2T>A (n.12705+2T>A) c.12660+2T>A (n.12660+2T>A) c.12813+2T>A (n.12813+2T>A) c.11718+2T>A (n.11718+2T>A) c.7902+2T>A (n.7902+2T>A) c.7455+2T>A (n.7455+2T>A) c.6792+2T>A (n.6792+2T>A) c.11307+2T>A (n.11307+2T>A) | |
| 5 | g.13717314C>A | CA3201563 | DNAH5 | c.12705+1G>T (n.12705+1G>T) c.12660+1G>T (n.12660+1G>T) c.12813+1G>T (n.12813+1G>T) c.11718+1G>T (n.11718+1G>T) c.7902+1G>T (n.7902+1G>T) c.7455+1G>T (n.7455+1G>T) c.6792+1G>T (n.6792+1G>T) c.11307+1G>T (n.11307+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13717314C= | CA1528406996 | DNAH5 | c.12705+1G= (n.12705+1G=) c.12660+1G= (n.12660+1G=) c.12813+1G= (n.12813+1G=) c.11718+1G= (n.11718+1G=) c.7902+1G= (n.7902+1G=) c.7455+1G= (n.7455+1G=) c.6792+1G= (n.6792+1G=) c.11307+1G= (n.11307+1G=) | |
| 5 | g.13717314C>G | CA359205865 | DNAH5 | c.12705+1G>C (n.12705+1G>C) c.12660+1G>C (n.12660+1G>C) c.12813+1G>C (n.12813+1G>C) c.11718+1G>C (n.11718+1G>C) c.7902+1G>C (n.7902+1G>C) c.7455+1G>C (n.7455+1G>C) c.6792+1G>C (n.6792+1G>C) c.11307+1G>C (n.11307+1G>C) | |
| 5 | g.13717314C>T | CA359205872 | DNAH5 | c.12705+1G>A (n.12705+1G>A) c.12660+1G>A (n.12660+1G>A) c.12813+1G>A (n.12813+1G>A) c.11718+1G>A (n.11718+1G>A) c.7902+1G>A (n.7902+1G>A) c.7455+1G>A (n.7455+1G>A) c.6792+1G>A (n.6792+1G>A) c.11307+1G>A (n.11307+1G>A) | ClinVar |
| 5 | g.13717314_13717315delinsAA | CA645541013 | DNAH5 | c.12705_12705+1delinsTT c.12660_12660+1delinsTT c.12813_12813+1delinsTT c.11718_11718+1delinsTT c.7902_7902+1delinsTT c.7455_7455+1delinsTT c.6792_6792+1delinsTT c.11307_11307+1delinsTT | COSMIC |
| 5 | g.13717315C>A | CA359205873 | DNAH5 | c.12705G>T (p.Lys4235Asn) c.12660G>T (p.Lys4220Asn) c.12813G>T (p.Lys4271Asn) c.11718G>T (p.Lys3906Asn) c.7902G>T (p.Lys2634Asn) c.7455G>T (p.Lys2485Asn) c.6792G>T (p.Lys2264Asn) c.11307G>T (p.Lys3769Asn) | |
| 5 | g.13717315C>G | CA359205879 | DNAH5 | c.12705G>C (p.Lys4235Asn) c.12660G>C (p.Lys4220Asn) c.12813G>C (p.Lys4271Asn) c.11718G>C (p.Lys3906Asn) c.7902G>C (p.Lys2634Asn) c.7455G>C (p.Lys2485Asn) c.6792G>C (p.Lys2264Asn) c.11307G>C (p.Lys3769Asn) | |
| 5 | g.13717315C>T | CA443254326 | DNAH5 | c.12705G>A (p.Lys4235=) c.12660G>A (p.Lys4220=) c.12813G>A (p.Lys4271=) c.11718G>A (p.Lys3906=) c.7902G>A (p.Lys2634=) c.7455G>A (p.Lys2485=) c.6792G>A (p.Lys2264=) c.11307G>A (p.Lys3769=) | gnomAD v4 COSMIC |
| 5 | g.13717315_13717320del | CA2673267151 | DNAH5 | c.12700_12705del (p.Lys4234_Lys4235del) c.12655_12660del (p.Lys4219_Lys4220del) c.12808_12813del (p.Lys4270_Lys4271del) c.11713_11718del (p.Lys3905_Lys3906del) c.7897_7902del (p.Lys2633_Lys2634del) c.7450_7455del (p.Lys2484_Lys2485del) c.6787_6792del (p.Lys2263_Lys2264del) c.11302_11307del (p.Lys3768_Lys3769del) | gnomAD v4 |
| 5 | g.13717316T>A | CA359205889 | DNAH5 | c.12704A>T (p.Lys4235Met) c.12659A>T (p.Lys4220Met) c.12812A>T (p.Lys4271Met) c.11717A>T (p.Lys3906Met) c.7901A>T (p.Lys2634Met) c.7454A>T (p.Lys2485Met) c.6791A>T (p.Lys2264Met) c.11306A>T (p.Lys3769Met) | |
| 5 | g.13717316T>C | CA359205891 | DNAH5 | c.12704A>G (p.Lys4235Arg) c.12659A>G (p.Lys4220Arg) c.12812A>G (p.Lys4271Arg) c.11717A>G (p.Lys3906Arg) c.7901A>G (p.Lys2634Arg) c.7454A>G (p.Lys2485Arg) c.6791A>G (p.Lys2264Arg) c.11306A>G (p.Lys3769Arg) | gnomAD v4 |
| 5 | g.13717316T>G | CA359205892 | DNAH5 | c.12704A>C (p.Lys4235Thr) c.12659A>C (p.Lys4220Thr) c.12812A>C (p.Lys4271Thr) c.11717A>C (p.Lys3906Thr) c.7901A>C (p.Lys2634Thr) c.7454A>C (p.Lys2485Thr) c.6791A>C (p.Lys2264Thr) c.11306A>C (p.Lys3769Thr) | |
| 5 | g.13717317T>A | CA359205894 | DNAH5 | c.12703A>T (p.Lys4235Ter) c.12658A>T (p.Lys4220Ter) c.12811A>T (p.Lys4271Ter) c.11716A>T (p.Lys3906Ter) c.7900A>T (p.Lys2634Ter) c.7453A>T (p.Lys2485Ter) c.6790A>T (p.Lys2264Ter) c.11305A>T (p.Lys3769Ter) | |
| 5 | g.13717317T>C | CA359205896 | DNAH5 | c.12703A>G (p.Lys4235Glu) c.12658A>G (p.Lys4220Glu) c.12811A>G (p.Lys4271Glu) c.11716A>G (p.Lys3906Glu) c.7900A>G (p.Lys2634Glu) c.7453A>G (p.Lys2485Glu) c.6790A>G (p.Lys2264Glu) c.11305A>G (p.Lys3769Glu) | |
| 5 | g.13717317T>G | CA359205898 | DNAH5 | c.12703A>C (p.Lys4235Gln) c.12658A>C (p.Lys4220Gln) c.12811A>C (p.Lys4271Gln) c.11716A>C (p.Lys3906Gln) c.7900A>C (p.Lys2634Gln) c.7453A>C (p.Lys2485Gln) c.6790A>C (p.Lys2264Gln) c.11305A>C (p.Lys3769Gln) | |
| 5 | g.13717318T>A | CA359205904 | DNAH5 | c.12702A>T (p.Lys4234Asn) c.12657A>T (p.Lys4219Asn) c.12810A>T (p.Lys4270Asn) c.11715A>T (p.Lys3905Asn) c.7899A>T (p.Lys2633Asn) c.7452A>T (p.Lys2484Asn) c.6789A>T (p.Lys2263Asn) c.11304A>T (p.Lys3768Asn) | |
| 5 | g.13717318T>C | CA443254331 | DNAH5 | c.12702A>G (p.Lys4234=) c.12657A>G (p.Lys4219=) c.12810A>G (p.Lys4270=) c.11715A>G (p.Lys3905=) c.7899A>G (p.Lys2633=) c.7452A>G (p.Lys2484=) c.6789A>G (p.Lys2263=) c.11304A>G (p.Lys3768=) | |
| 5 | g.13717318T>G | CA359205915 | DNAH5 | c.12702A>C (p.Lys4234Asn) c.12657A>C (p.Lys4219Asn) c.12810A>C (p.Lys4270Asn) c.11715A>C (p.Lys3905Asn) c.7899A>C (p.Lys2633Asn) c.7452A>C (p.Lys2484Asn) c.6789A>C (p.Lys2263Asn) c.11304A>C (p.Lys3768Asn) | |
| 5 | g.13717319T>A | CA359205936 | DNAH5 | c.12701A>T (p.Lys4234Ile) c.12656A>T (p.Lys4219Ile) c.12809A>T (p.Lys4270Ile) c.11714A>T (p.Lys3905Ile) c.7898A>T (p.Lys2633Ile) c.7451A>T (p.Lys2484Ile) c.6788A>T (p.Lys2263Ile) c.11303A>T (p.Lys3768Ile) | |
| 5 | g.13717319T>C | CA359205938 | DNAH5 | c.12701A>G (p.Lys4234Arg) c.12656A>G (p.Lys4219Arg) c.12809A>G (p.Lys4270Arg) c.11714A>G (p.Lys3905Arg) c.7898A>G (p.Lys2633Arg) c.7451A>G (p.Lys2484Arg) c.6788A>G (p.Lys2263Arg) c.11303A>G (p.Lys3768Arg) | gnomAD v4 |
| 5 | g.13717319T>G | CA359205934 | DNAH5 | c.12701A>C (p.Lys4234Thr) c.12656A>C (p.Lys4219Thr) c.12809A>C (p.Lys4270Thr) c.11714A>C (p.Lys3905Thr) c.7898A>C (p.Lys2633Thr) c.7451A>C (p.Lys2484Thr) c.6788A>C (p.Lys2263Thr) c.11303A>C (p.Lys3768Thr) | |
| 5 | g.13717320T>A | CA359205945 | DNAH5 | c.12700A>T (p.Lys4234Ter) c.12655A>T (p.Lys4219Ter) c.12808A>T (p.Lys4270Ter) c.11713A>T (p.Lys3905Ter) c.7897A>T (p.Lys2633Ter) c.7450A>T (p.Lys2484Ter) c.6787A>T (p.Lys2263Ter) c.11302A>T (p.Lys3768Ter) | |
| 5 | g.13717320T>C | CA359205944 | DNAH5 | c.12700A>G (p.Lys4234Glu) c.12655A>G (p.Lys4219Glu) c.12808A>G (p.Lys4270Glu) c.11713A>G (p.Lys3905Glu) c.7897A>G (p.Lys2633Glu) c.7450A>G (p.Lys2484Glu) c.6787A>G (p.Lys2263Glu) c.11302A>G (p.Lys3768Glu) | |
| 5 | g.13717320T>G | CA3201564 | DNAH5 | c.12700A>C (p.Lys4234Gln) c.12655A>C (p.Lys4219Gln) c.12808A>C (p.Lys4270Gln) c.11713A>C (p.Lys3905Gln) c.7897A>C (p.Lys2633Gln) c.7450A>C (p.Lys2484Gln) c.6787A>C (p.Lys2263Gln) c.11302A>C (p.Lys3768Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13717320T= | CA1528406997 | DNAH5 | c.12700A= (p.Lys4234=) c.12655A= (p.Lys4219=) c.12808A= (p.Lys4270=) c.11713A= (p.Lys3905=) c.7897A= (p.Lys2633=) c.7450A= (p.Lys2484=) c.6787A= (p.Lys2263=) c.11302A= (p.Lys3768=) | |
| 5 | g.13717321G>A | CA443254356 | DNAH5 | c.12699C>T (p.Val4233=) c.12654C>T (p.Val4218=) c.12807C>T (p.Val4269=) c.11712C>T (p.Val3904=) c.7896C>T (p.Val2632=) c.7449C>T (p.Val2483=) c.6786C>T (p.Val2262=) c.11301C>T (p.Val3767=) | |
| 5 | g.13717321G>C | CA443254351 | DNAH5 | c.12699C>G (p.Val4233=) c.12654C>G (p.Val4218=) c.12807C>G (p.Val4269=) c.11712C>G (p.Val3904=) c.7896C>G (p.Val2632=) c.7449C>G (p.Val2483=) c.6786C>G (p.Val2262=) c.11301C>G (p.Val3767=) | |
| 5 | g.13717321G>T | CA443254353 | DNAH5 | c.12699C>A (p.Val4233=) c.12654C>A (p.Val4218=) c.12807C>A (p.Val4269=) c.11712C>A (p.Val3904=) c.7896C>A (p.Val2632=) c.7449C>A (p.Val2483=) c.6786C>A (p.Val2262=) c.11301C>A (p.Val3767=) | |
| 5 | g.13717322A= | CA1528406998 | DNAH5 | c.12698T= (p.Val4233=) c.12653T= (p.Val4218=) c.12806T= (p.Val4269=) c.11711T= (p.Val3904=) c.7895T= (p.Val2632=) c.7448T= (p.Val2483=) c.6785T= (p.Val2262=) c.11300T= (p.Val3767=) | |
| 5 | g.13717322A>C | CA359205947 | DNAH5 | c.12698T>G (p.Val4233Gly) c.12653T>G (p.Val4218Gly) c.12806T>G (p.Val4269Gly) c.11711T>G (p.Val3904Gly) c.7895T>G (p.Val2632Gly) c.7448T>G (p.Val2483Gly) c.6785T>G (p.Val2262Gly) c.11300T>G (p.Val3767Gly) | |
| 5 | g.13717322A>G | CA3201565 | DNAH5 | c.12698T>C (p.Val4233Ala) c.12653T>C (p.Val4218Ala) c.12806T>C (p.Val4269Ala) c.11711T>C (p.Val3904Ala) c.7895T>C (p.Val2632Ala) c.7448T>C (p.Val2483Ala) c.6785T>C (p.Val2262Ala) c.11300T>C (p.Val3767Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13717322A>T | CA359205952 | DNAH5 | c.12698T>A (p.Val4233Asp) c.12653T>A (p.Val4218Asp) c.12806T>A (p.Val4269Asp) c.11711T>A (p.Val3904Asp) c.7895T>A (p.Val2632Asp) c.7448T>A (p.Val2483Asp) c.6785T>A (p.Val2262Asp) c.11300T>A (p.Val3767Asp) | |
| 5 | g.13717323C>A | CA359205955 | DNAH5 | c.12697G>T (p.Val4233Phe) c.12652G>T (p.Val4218Phe) c.12805G>T (p.Val4269Phe) c.11710G>T (p.Val3904Phe) c.7894G>T (p.Val2632Phe) c.7447G>T (p.Val2483Phe) c.6784G>T (p.Val2262Phe) c.11299G>T (p.Val3767Phe) | |
| 5 | g.13717323C>G | CA359205956 | DNAH5 | c.12697G>C (p.Val4233Leu) c.12652G>C (p.Val4218Leu) c.12805G>C (p.Val4269Leu) c.11710G>C (p.Val3904Leu) c.7894G>C (p.Val2632Leu) c.7447G>C (p.Val2483Leu) c.6784G>C (p.Val2262Leu) c.11299G>C (p.Val3767Leu) | |
| 5 | g.13717323C>T | CA359205963 | DNAH5 | c.12697G>A (p.Val4233Ile) c.12652G>A (p.Val4218Ile) c.12805G>A (p.Val4269Ile) c.11710G>A (p.Val3904Ile) c.7894G>A (p.Val2632Ile) c.7447G>A (p.Val2483Ile) c.6784G>A (p.Val2262Ile) c.11299G>A (p.Val3767Ile) | |
| 5 | g.13717324A>C | CA359205972 | DNAH5 | c.12696T>G (p.Asp4232Glu) c.12651T>G (p.Asp4217Glu) c.12804T>G (p.Asp4268Glu) c.11709T>G (p.Asp3903Glu) c.7893T>G (p.Asp2631Glu) c.7446T>G (p.Asp2482Glu) c.6783T>G (p.Asp2261Glu) c.11298T>G (p.Asp3766Glu) | gnomAD v4 |
| 5 | g.13717324A>G | CA443254368 | DNAH5 | c.12696T>C (p.Asp4232=) c.12651T>C (p.Asp4217=) c.12804T>C (p.Asp4268=) c.11709T>C (p.Asp3903=) c.7893T>C (p.Asp2631=) c.7446T>C (p.Asp2482=) c.6783T>C (p.Asp2261=) c.11298T>C (p.Asp3766=) | gnomAD v4 |
| 5 | g.13717324A>T | CA359205988 | DNAH5 | c.12696T>A (p.Asp4232Glu) c.12651T>A (p.Asp4217Glu) c.12804T>A (p.Asp4268Glu) c.11709T>A (p.Asp3903Glu) c.7893T>A (p.Asp2631Glu) c.7446T>A (p.Asp2482Glu) c.6783T>A (p.Asp2261Glu) c.11298T>A (p.Asp3766Glu) | |
| 5 | g.13717325T>A | CA359206005 | DNAH5 | c.12695A>T (p.Asp4232Val) c.12650A>T (p.Asp4217Val) c.12803A>T (p.Asp4268Val) c.11708A>T (p.Asp3903Val) c.7892A>T (p.Asp2631Val) c.7445A>T (p.Asp2482Val) c.6782A>T (p.Asp2261Val) c.11297A>T (p.Asp3766Val) | gnomAD v4 |
| 5 | g.13717325T>C | CA359206015 | DNAH5 | c.12695A>G (p.Asp4232Gly) c.12650A>G (p.Asp4217Gly) c.12803A>G (p.Asp4268Gly) c.11708A>G (p.Asp3903Gly) c.7892A>G (p.Asp2631Gly) c.7445A>G (p.Asp2482Gly) c.6782A>G (p.Asp2261Gly) c.11297A>G (p.Asp3766Gly) | |
| 5 | g.13717325T>G | CA359206019 | DNAH5 | c.12695A>C (p.Asp4232Ala) c.12650A>C (p.Asp4217Ala) c.12803A>C (p.Asp4268Ala) c.11708A>C (p.Asp3903Ala) c.7892A>C (p.Asp2631Ala) c.7445A>C (p.Asp2482Ala) c.6782A>C (p.Asp2261Ala) c.11297A>C (p.Asp3766Ala) | |
| 5 | g.13717326C>A | CA359206036 | DNAH5 | c.12694G>T (p.Asp4232Tyr) c.12649G>T (p.Asp4217Tyr) c.12802G>T (p.Asp4268Tyr) c.11707G>T (p.Asp3903Tyr) c.7891G>T (p.Asp2631Tyr) c.7444G>T (p.Asp2482Tyr) c.6781G>T (p.Asp2261Tyr) c.11296G>T (p.Asp3766Tyr) | |
| 5 | g.13717326C= | CA1528406999 | DNAH5 | c.12694G= (p.Asp4232=) c.12649G= (p.Asp4217=) c.12802G= (p.Asp4268=) c.11707G= (p.Asp3903=) c.7891G= (p.Asp2631=) c.7444G= (p.Asp2482=) c.6781G= (p.Asp2261=) c.11296G= (p.Asp3766=) | |
| 5 | g.13717326C>G | CA359206020 | DNAH5 | c.12694G>C (p.Asp4232His) c.12649G>C (p.Asp4217His) c.12802G>C (p.Asp4268His) c.11707G>C (p.Asp3903His) c.7891G>C (p.Asp2631His) c.7444G>C (p.Asp2482His) c.6781G>C (p.Asp2261His) c.11296G>C (p.Asp3766His) | |
| 5 | g.13717326C>T | CA3201566 | DNAH5 | c.12694G>A (p.Asp4232Asn) c.12649G>A (p.Asp4217Asn) c.12802G>A (p.Asp4268Asn) c.11707G>A (p.Asp3903Asn) c.7891G>A (p.Asp2631Asn) c.7444G>A (p.Asp2482Asn) c.6781G>A (p.Asp2261Asn) c.11296G>A (p.Asp3766Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13717327C>A | CA359206042 | DNAH5 | c.12693G>T (p.Met4231Ile) c.12648G>T (p.Met4216Ile) c.12801G>T (p.Met4267Ile) c.11706G>T (p.Met3902Ile) c.7890G>T (p.Met2630Ile) c.7443G>T (p.Met2481Ile) c.6780G>T (p.Met2260Ile) c.11295G>T (p.Met3765Ile) | |
| 5 | g.13717327C>G | CA359206051 | DNAH5 | c.12693G>C (p.Met4231Ile) c.12648G>C (p.Met4216Ile) c.12801G>C (p.Met4267Ile) c.11706G>C (p.Met3902Ile) c.7890G>C (p.Met2630Ile) c.7443G>C (p.Met2481Ile) c.6780G>C (p.Met2260Ile) c.11295G>C (p.Met3765Ile) |