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.13720916_13721033del | CA2765347320 | DNAH5 | c.12247_12279+85del c.12202_12234+85del c.12355_12387+85del c.11260_11292+85del c.7444_7476+85del c.6997_7029+85del c.6334_6366+85del c.10849_10881+85del | |
| 5 | g.13721014G>A | CA16611765 | DNAH5 | c.12265C>T (p.Gln4089Ter) c.12220C>T (p.Gln4074Ter) c.12373C>T (p.Gln4125Ter) c.11278C>T (p.Gln3760Ter) c.7462C>T (p.Gln2488Ter) c.7015C>T (p.Gln2339Ter) c.6352C>T (p.Gln2118Ter) c.10867C>T (p.Gln3623Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13721014G>C | CA359213063 | DNAH5 | c.12265C>G (p.Gln4089Glu) c.12220C>G (p.Gln4074Glu) c.12373C>G (p.Gln4125Glu) c.11278C>G (p.Gln3760Glu) c.7462C>G (p.Gln2488Glu) c.7015C>G (p.Gln2339Glu) c.6352C>G (p.Gln2118Glu) c.10867C>G (p.Gln3623Glu) | |
| 5 | g.13721014G= | CA1528408675 | DNAH5 | c.12265C= (p.Gln4089=) c.12220C= (p.Gln4074=) c.12373C= (p.Gln4125=) c.11278C= (p.Gln3760=) c.7462C= (p.Gln2488=) c.7015C= (p.Gln2339=) c.6352C= (p.Gln2118=) c.10867C= (p.Gln3623=) | |
| 5 | g.13721014G>T | CA359213073 | DNAH5 | c.12265C>A (p.Gln4089Lys) c.12220C>A (p.Gln4074Lys) c.12373C>A (p.Gln4125Lys) c.11278C>A (p.Gln3760Lys) c.7462C>A (p.Gln2488Lys) c.7015C>A (p.Gln2339Lys) c.6352C>A (p.Gln2118Lys) c.10867C>A (p.Gln3623Lys) | gnomAD v4 |
| 5 | g.13721015C>A | CA3201701 | DNAH5 | c.12264G>T (p.Gln4088His) c.12219G>T (p.Gln4073His) c.12372G>T (p.Gln4124His) c.11277G>T (p.Gln3759His) c.7461G>T (p.Gln2487His) c.7014G>T (p.Gln2338His) c.6351G>T (p.Gln2117His) c.10866G>T (p.Gln3622His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13721015C= | CA1528408676 | DNAH5 | c.12264G= (p.Gln4088=) c.12219G= (p.Gln4073=) c.12372G= (p.Gln4124=) c.11277G= (p.Gln3759=) c.7461G= (p.Gln2487=) c.7014G= (p.Gln2338=) c.6351G= (p.Gln2117=) c.10866G= (p.Gln3622=) | |
| 5 | g.13721015C>G | CA359213078 | DNAH5 | c.12264G>C (p.Gln4088His) c.12219G>C (p.Gln4073His) c.12372G>C (p.Gln4124His) c.11277G>C (p.Gln3759His) c.7461G>C (p.Gln2487His) c.7014G>C (p.Gln2338His) c.6351G>C (p.Gln2117His) c.10866G>C (p.Gln3622His) | |
| 5 | g.13721015C>T | CA443536009 | DNAH5 | c.12264G>A (p.Gln4088=) c.12219G>A (p.Gln4073=) c.12372G>A (p.Gln4124=) c.11277G>A (p.Gln3759=) c.7461G>A (p.Gln2487=) c.7014G>A (p.Gln2338=) c.6351G>A (p.Gln2117=) c.10866G>A (p.Gln3622=) | |
| 5 | g.13721016T>A | CA359213079 | DNAH5 | c.12263A>T (p.Gln4088Leu) c.12218A>T (p.Gln4073Leu) c.12371A>T (p.Gln4124Leu) c.11276A>T (p.Gln3759Leu) c.7460A>T (p.Gln2487Leu) c.7013A>T (p.Gln2338Leu) c.6350A>T (p.Gln2117Leu) c.10865A>T (p.Gln3622Leu) | |
| 5 | g.13721016T>C | CA359213081 | DNAH5 | c.12263A>G (p.Gln4088Arg) c.12218A>G (p.Gln4073Arg) c.12371A>G (p.Gln4124Arg) c.11276A>G (p.Gln3759Arg) c.7460A>G (p.Gln2487Arg) c.7013A>G (p.Gln2338Arg) c.6350A>G (p.Gln2117Arg) c.10865A>G (p.Gln3622Arg) | |
| 5 | g.13721016T>G | CA359213080 | DNAH5 | c.12263A>C (p.Gln4088Pro) c.12218A>C (p.Gln4073Pro) c.12371A>C (p.Gln4124Pro) c.11276A>C (p.Gln3759Pro) c.7460A>C (p.Gln2487Pro) c.7013A>C (p.Gln2338Pro) c.6350A>C (p.Gln2117Pro) c.10865A>C (p.Gln3622Pro) | |
| 5 | g.13721017G>A | CA359213082 | DNAH5 | c.12262C>T (p.Gln4088Ter) c.12217C>T (p.Gln4073Ter) c.12370C>T (p.Gln4124Ter) c.11275C>T (p.Gln3759Ter) c.7459C>T (p.Gln2487Ter) c.7012C>T (p.Gln2338Ter) c.6349C>T (p.Gln2117Ter) c.10864C>T (p.Gln3622Ter) | ClinVar gnomAD v4 |
| 5 | g.13721017G>C | CA359213084 | DNAH5 | c.12262C>G (p.Gln4088Glu) c.12217C>G (p.Gln4073Glu) c.12370C>G (p.Gln4124Glu) c.11275C>G (p.Gln3759Glu) c.7459C>G (p.Gln2487Glu) c.7012C>G (p.Gln2338Glu) c.6349C>G (p.Gln2117Glu) c.10864C>G (p.Gln3622Glu) | |
| 5 | g.13721017G= | CA1528408677 | DNAH5 | c.12262C= (p.Gln4088=) c.12217C= (p.Gln4073=) c.12370C= (p.Gln4124=) c.11275C= (p.Gln3759=) c.7459C= (p.Gln2487=) c.7012C= (p.Gln2338=) c.6349C= (p.Gln2117=) c.10864C= (p.Gln3622=) | |
| 5 | g.13721017G>T | CA359213087 | DNAH5 | c.12262C>A (p.Gln4088Lys) c.12217C>A (p.Gln4073Lys) c.12370C>A (p.Gln4124Lys) c.11275C>A (p.Gln3759Lys) c.7459C>A (p.Gln2487Lys) c.7012C>A (p.Gln2338Lys) c.6349C>A (p.Gln2117Lys) c.10864C>A (p.Gln3622Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13721018C>A | CA359213088 | DNAH5 | c.12261G>T (p.Leu4087Phe) c.12216G>T (p.Leu4072Phe) c.12369G>T (p.Leu4123Phe) c.11274G>T (p.Leu3758Phe) c.7458G>T (p.Leu2486Phe) c.7011G>T (p.Leu2337Phe) c.6348G>T (p.Leu2116Phe) c.10863G>T (p.Leu3621Phe) | |
| 5 | g.13721018C= | CA1528408678 | DNAH5 | c.12261G= (p.Leu4087=) c.12216G= (p.Leu4072=) c.12369G= (p.Leu4123=) c.11274G= (p.Leu3758=) c.7458G= (p.Leu2486=) c.7011G= (p.Leu2337=) c.6348G= (p.Leu2116=) c.10863G= (p.Leu3621=) | |
| 5 | g.13721018C>G | CA359213089 | DNAH5 | c.12261G>C (p.Leu4087Phe) c.12216G>C (p.Leu4072Phe) c.12369G>C (p.Leu4123Phe) c.11274G>C (p.Leu3758Phe) c.7458G>C (p.Leu2486Phe) c.7011G>C (p.Leu2337Phe) c.6348G>C (p.Leu2116Phe) c.10863G>C (p.Leu3621Phe) | |
| 5 | g.13721018C>T | CA3201702 | DNAH5 | c.12261G>A (p.Leu4087=) c.12216G>A (p.Leu4072=) c.12369G>A (p.Leu4123=) c.11274G>A (p.Leu3758=) c.7458G>A (p.Leu2486=) c.7011G>A (p.Leu2337=) c.6348G>A (p.Leu2116=) c.10863G>A (p.Leu3621=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13721019A>C | CA359213093 | DNAH5 | c.12260T>G (p.Leu4087Trp) c.12215T>G (p.Leu4072Trp) c.12368T>G (p.Leu4123Trp) c.11273T>G (p.Leu3758Trp) c.7457T>G (p.Leu2486Trp) c.7010T>G (p.Leu2337Trp) c.6347T>G (p.Leu2116Trp) c.10862T>G (p.Leu3621Trp) | |
| 5 | g.13721019A>G | CA359213094 | DNAH5 | c.12260T>C (p.Leu4087Ser) c.12215T>C (p.Leu4072Ser) c.12368T>C (p.Leu4123Ser) c.11273T>C (p.Leu3758Ser) c.7457T>C (p.Leu2486Ser) c.7010T>C (p.Leu2337Ser) c.6347T>C (p.Leu2116Ser) c.10862T>C (p.Leu3621Ser) | |
| 5 | g.13721019A>T | CA359213096 | DNAH5 | c.12260T>A (p.Leu4087Ter) c.12215T>A (p.Leu4072Ter) c.12368T>A (p.Leu4123Ter) c.11273T>A (p.Leu3758Ter) c.7457T>A (p.Leu2486Ter) c.7010T>A (p.Leu2337Ter) c.6347T>A (p.Leu2116Ter) c.10862T>A (p.Leu3621Ter) | |
| 5 | g.13721020A>C | CA359213101 | DNAH5 | c.12259T>G (p.Leu4087Val) c.12214T>G (p.Leu4072Val) c.12367T>G (p.Leu4123Val) c.11272T>G (p.Leu3758Val) c.7456T>G (p.Leu2486Val) c.7009T>G (p.Leu2337Val) c.6346T>G (p.Leu2116Val) c.10861T>G (p.Leu3621Val) | gnomAD v4 |
| 5 | g.13721020A>G | CA443536010 | DNAH5 | c.12259T>C (p.Leu4087=) c.12214T>C (p.Leu4072=) c.12367T>C (p.Leu4123=) c.11272T>C (p.Leu3758=) c.7456T>C (p.Leu2486=) c.7009T>C (p.Leu2337=) c.6346T>C (p.Leu2116=) c.10861T>C (p.Leu3621=) | |
| 5 | g.13721020A>T | CA359213104 | DNAH5 | c.12259T>A (p.Leu4087Met) c.12214T>A (p.Leu4072Met) c.12367T>A (p.Leu4123Met) c.11272T>A (p.Leu3758Met) c.7456T>A (p.Leu2486Met) c.7009T>A (p.Leu2337Met) c.6346T>A (p.Leu2116Met) c.10861T>A (p.Leu3621Met) | |
| 5 | g.13721021G>A | CA443536011 | DNAH5 | c.12258C>T (p.Leu4086=) c.12213C>T (p.Leu4071=) c.12366C>T (p.Leu4122=) c.11271C>T (p.Leu3757=) c.7455C>T (p.Leu2485=) c.7008C>T (p.Leu2336=) c.6345C>T (p.Leu2115=) c.10860C>T (p.Leu3620=) | |
| 5 | g.13721021G>C | CA113920683 | DNAH5 | c.12258C>G (p.Leu4086=) c.12213C>G (p.Leu4071=) c.12366C>G (p.Leu4122=) c.11271C>G (p.Leu3757=) c.7455C>G (p.Leu2485=) c.7008C>G (p.Leu2336=) c.6345C>G (p.Leu2115=) c.10860C>G (p.Leu3620=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13721021G= | CA1528408679 | DNAH5 | c.12258C= (p.Leu4086=) c.12213C= (p.Leu4071=) c.12366C= (p.Leu4122=) c.11271C= (p.Leu3757=) c.7455C= (p.Leu2485=) c.7008C= (p.Leu2336=) c.6345C= (p.Leu2115=) c.10860C= (p.Leu3620=) | |
| 5 | g.13721021G>T | CA443536012 | DNAH5 | c.12258C>A (p.Leu4086=) c.12213C>A (p.Leu4071=) c.12366C>A (p.Leu4122=) c.11271C>A (p.Leu3757=) c.7455C>A (p.Leu2485=) c.7008C>A (p.Leu2336=) c.6345C>A (p.Leu2115=) c.10860C>A (p.Leu3620=) | |
| 5 | g.13721022A>C | CA359213115 | DNAH5 | c.12257T>G (p.Leu4086Arg) c.12212T>G (p.Leu4071Arg) c.12365T>G (p.Leu4122Arg) c.11270T>G (p.Leu3757Arg) c.7454T>G (p.Leu2485Arg) c.7007T>G (p.Leu2336Arg) c.6344T>G (p.Leu2115Arg) c.10859T>G (p.Leu3620Arg) | |
| 5 | g.13721022A>G | CA359213112 | DNAH5 | c.12257T>C (p.Leu4086Pro) c.12212T>C (p.Leu4071Pro) c.12365T>C (p.Leu4122Pro) c.11270T>C (p.Leu3757Pro) c.7454T>C (p.Leu2485Pro) c.7007T>C (p.Leu2336Pro) c.6344T>C (p.Leu2115Pro) c.10859T>C (p.Leu3620Pro) | |
| 5 | g.13721022A>T | CA359213118 | DNAH5 | c.12257T>A (p.Leu4086His) c.12212T>A (p.Leu4071His) c.12365T>A (p.Leu4122His) c.11270T>A (p.Leu3757His) c.7454T>A (p.Leu2485His) c.7007T>A (p.Leu2336His) c.6344T>A (p.Leu2115His) c.10859T>A (p.Leu3620His) | |
| 5 | g.13721023G>A | CA359213122 | DNAH5 | c.12256C>T (p.Leu4086Phe) c.12211C>T (p.Leu4071Phe) c.12364C>T (p.Leu4122Phe) c.11269C>T (p.Leu3757Phe) c.7453C>T (p.Leu2485Phe) c.7006C>T (p.Leu2336Phe) c.6343C>T (p.Leu2115Phe) c.10858C>T (p.Leu3620Phe) | COSMIC |
| 5 | g.13721023G>C | CA359213134 | DNAH5 | c.12256C>G (p.Leu4086Val) c.12211C>G (p.Leu4071Val) c.12364C>G (p.Leu4122Val) c.11269C>G (p.Leu3757Val) c.7453C>G (p.Leu2485Val) c.7006C>G (p.Leu2336Val) c.6343C>G (p.Leu2115Val) c.10858C>G (p.Leu3620Val) | |
| 5 | g.13721023G>T | CA359213138 | DNAH5 | c.12256C>A (p.Leu4086Ile) c.12211C>A (p.Leu4071Ile) c.12364C>A (p.Leu4122Ile) c.11269C>A (p.Leu3757Ile) c.7453C>A (p.Leu2485Ile) c.7006C>A (p.Leu2336Ile) c.6343C>A (p.Leu2115Ile) c.10858C>A (p.Leu3620Ile) | |
| 5 | g.13721024C>A | CA359213142 | DNAH5 | c.12255G>T (p.Lys4085Asn) c.12210G>T (p.Lys4070Asn) c.12363G>T (p.Lys4121Asn) c.11268G>T (p.Lys3756Asn) c.7452G>T (p.Lys2484Asn) c.7005G>T (p.Lys2335Asn) c.6342G>T (p.Lys2114Asn) c.10857G>T (p.Lys3619Asn) | |
| 5 | g.13721024C= | CA1528408680 | DNAH5 | c.12255G= (p.Lys4085=) c.12210G= (p.Lys4070=) c.12363G= (p.Lys4121=) c.11268G= (p.Lys3756=) c.7452G= (p.Lys2484=) c.7005G= (p.Lys2335=) c.6342G= (p.Lys2114=) c.10857G= (p.Lys3619=) | |
| 5 | g.13721024C>G | CA359213146 | DNAH5 | c.12255G>C (p.Lys4085Asn) c.12210G>C (p.Lys4070Asn) c.12363G>C (p.Lys4121Asn) c.11268G>C (p.Lys3756Asn) c.7452G>C (p.Lys2484Asn) c.7005G>C (p.Lys2335Asn) c.6342G>C (p.Lys2114Asn) c.10857G>C (p.Lys3619Asn) | |
| 5 | g.13721024C>T | CA113920685 | DNAH5 | c.12255G>A (p.Lys4085=) c.12210G>A (p.Lys4070=) c.12363G>A (p.Lys4121=) c.11268G>A (p.Lys3756=) c.7452G>A (p.Lys2484=) c.7005G>A (p.Lys2335=) c.6342G>A (p.Lys2114=) c.10857G>A (p.Lys3619=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13721025T>A | CA359213151 | DNAH5 | c.12254A>T (p.Lys4085Met) c.12209A>T (p.Lys4070Met) c.12362A>T (p.Lys4121Met) c.11267A>T (p.Lys3756Met) c.7451A>T (p.Lys2484Met) c.7004A>T (p.Lys2335Met) c.6341A>T (p.Lys2114Met) c.10856A>T (p.Lys3619Met) | |
| 5 | g.13721025T>C | CA359213153 | DNAH5 | c.12254A>G (p.Lys4085Arg) c.12209A>G (p.Lys4070Arg) c.12362A>G (p.Lys4121Arg) c.11267A>G (p.Lys3756Arg) c.7451A>G (p.Lys2484Arg) c.7004A>G (p.Lys2335Arg) c.6341A>G (p.Lys2114Arg) c.10856A>G (p.Lys3619Arg) | |
| 5 | g.13721025T>G | CA359213157 | DNAH5 | c.12254A>C (p.Lys4085Thr) c.12209A>C (p.Lys4070Thr) c.12362A>C (p.Lys4121Thr) c.11267A>C (p.Lys3756Thr) c.7451A>C (p.Lys2484Thr) c.7004A>C (p.Lys2335Thr) c.6341A>C (p.Lys2114Thr) c.10856A>C (p.Lys3619Thr) | |
| 5 | g.13721026T>A | CA359213161 | DNAH5 | c.12253A>T (p.Lys4085Ter) c.12208A>T (p.Lys4070Ter) c.12361A>T (p.Lys4121Ter) c.11266A>T (p.Lys3756Ter) c.7450A>T (p.Lys2484Ter) c.7003A>T (p.Lys2335Ter) c.6340A>T (p.Lys2114Ter) c.10855A>T (p.Lys3619Ter) | |
| 5 | g.13721026T>C | CA359213162 | DNAH5 | c.12253A>G (p.Lys4085Glu) c.12208A>G (p.Lys4070Glu) c.12361A>G (p.Lys4121Glu) c.11266A>G (p.Lys3756Glu) c.7450A>G (p.Lys2484Glu) c.7003A>G (p.Lys2335Glu) c.6340A>G (p.Lys2114Glu) c.10855A>G (p.Lys3619Glu) | |
| 5 | g.13721026T>G | CA359213163 | DNAH5 | c.12253A>C (p.Lys4085Gln) c.12208A>C (p.Lys4070Gln) c.12361A>C (p.Lys4121Gln) c.11266A>C (p.Lys3756Gln) c.7450A>C (p.Lys2484Gln) c.7003A>C (p.Lys2335Gln) c.6340A>C (p.Lys2114Gln) c.10855A>C (p.Lys3619Gln) | |
| 5 | g.13721027C>A | CA443536013 | DNAH5 | c.12252G>T (p.Arg4084=) c.12207G>T (p.Arg4069=) c.12360G>T (p.Arg4120=) c.11265G>T (p.Arg3755=) c.7449G>T (p.Arg2483=) c.7002G>T (p.Arg2334=) c.6339G>T (p.Arg2113=) c.10854G>T (p.Arg3618=) | |
| 5 | g.13721027C>G | CA443536014 | DNAH5 | c.12252G>C (p.Arg4084=) c.12207G>C (p.Arg4069=) c.12360G>C (p.Arg4120=) c.11265G>C (p.Arg3755=) c.7449G>C (p.Arg2483=) c.7002G>C (p.Arg2334=) c.6339G>C (p.Arg2113=) c.10854G>C (p.Arg3618=) | |
| 5 | g.13721027C>T | CA443536015 | DNAH5 | c.12252G>A (p.Arg4084=) c.12207G>A (p.Arg4069=) c.12360G>A (p.Arg4120=) c.11265G>A (p.Arg3755=) c.7449G>A (p.Arg2483=) c.7002G>A (p.Arg2334=) c.6339G>A (p.Arg2113=) c.10854G>A (p.Arg3618=) | |
| 5 | g.13721028C>A | CA359213164 | DNAH5 | c.12251G>T (p.Arg4084Leu) c.12206G>T (p.Arg4069Leu) c.12359G>T (p.Arg4120Leu) c.11264G>T (p.Arg3755Leu) c.7448G>T (p.Arg2483Leu) c.7001G>T (p.Arg2334Leu) c.6338G>T (p.Arg2113Leu) c.10853G>T (p.Arg3618Leu) | ClinVar |