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 |
|---|---|---|---|---|---|
| 18 | g.34794178C>A | CA402275054 | DTNA | c.290C>A (p.Pro97Gln) c.5C>A (p.Pro2Gln) c.*301C>A (n.*301C>A) c.251C>A (p.Pro84Gln) n.304C>A c.296C>A (p.Pro99Gln) n.636C>A n.470C>A | |
| 18 | g.34794178C>G | CA402275055 | DTNA | c.290C>G (p.Pro97Arg) c.5C>G (p.Pro2Arg) c.*301C>G (n.*301C>G) c.251C>G (p.Pro84Arg) n.304C>G c.296C>G (p.Pro99Arg) n.636C>G n.470C>G | |
| 18 | g.34794178C>T | CA402275056 | DTNA | c.290C>T (p.Pro97Leu) c.5C>T (p.Pro2Leu) c.*301C>T (n.*301C>T) c.251C>T (p.Pro84Leu) n.304C>T c.296C>T (p.Pro99Leu) n.636C>T n.470C>T | gnomAD v4 |
| 18 | g.34794179A>C | CA503734752 | DTNA | c.291A>C (p.Pro97=) c.6A>C (p.Pro2=) c.*302A>C (n.*302A>C) c.252A>C (p.Pro84=) n.305A>C c.297A>C (p.Pro99=) n.637A>C n.471A>C | |
| 18 | g.34794179A>G | CA503734753 | DTNA | c.291A>G (p.Pro97=) c.6A>G (p.Pro2=) c.*302A>G (n.*302A>G) c.252A>G (p.Pro84=) n.305A>G c.297A>G (p.Pro99=) n.637A>G n.471A>G | |
| 18 | g.34794179A>T | CA503734754 | DTNA | c.291A>T (p.Pro97=) c.6A>T (p.Pro2=) c.*302A>T (n.*302A>T) c.252A>T (p.Pro84=) n.305A>T c.297A>T (p.Pro99=) n.637A>T n.471A>T | |
| 18 | g.34794180A= | CA2295340820 | DTNA | c.292A= (p.Thr98=) c.7A= (p.Thr3=) c.*303A= (n.*303A=) c.253A= (p.Thr85=) n.306A= c.298A= (p.Thr100=) n.638A= n.472A= | |
| 18 | g.34794180A>C | CA402275057 | DTNA | c.292A>C (p.Thr98Pro) c.7A>C (p.Thr3Pro) c.*303A>C (n.*303A>C) c.253A>C (p.Thr85Pro) n.306A>C c.298A>C (p.Thr100Pro) n.638A>C n.472A>C | |
| 18 | g.34794180A>G | CA8935334 | DTNA | c.292A>G (p.Thr98Ala) c.7A>G (p.Thr3Ala) c.*303A>G (n.*303A>G) c.253A>G (p.Thr85Ala) n.306A>G c.298A>G (p.Thr100Ala) n.638A>G n.472A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.34794180A>T | CA402275058 | DTNA | c.292A>T (p.Thr98Ser) c.7A>T (p.Thr3Ser) c.*303A>T (n.*303A>T) c.253A>T (p.Thr85Ser) n.306A>T c.298A>T (p.Thr100Ser) n.638A>T n.472A>T | |
| 18 | g.34794181C>A | CA402275059 | DTNA | c.293C>A (p.Thr98Asn) c.8C>A (p.Thr3Asn) c.*304C>A (n.*304C>A) c.254C>A (p.Thr85Asn) n.307C>A c.299C>A (p.Thr100Asn) n.639C>A n.473C>A | |
| 18 | g.34794181C>G | CA402275060 | DTNA | c.293C>G (p.Thr98Ser) c.8C>G (p.Thr3Ser) c.*304C>G (n.*304C>G) c.254C>G (p.Thr85Ser) n.307C>G c.299C>G (p.Thr100Ser) n.639C>G n.473C>G | |
| 18 | g.34794181C>T | CA402275061 | DTNA | c.293C>T (p.Thr98Ile) c.8C>T (p.Thr3Ile) c.*304C>T (n.*304C>T) c.254C>T (p.Thr85Ile) n.307C>T c.299C>T (p.Thr100Ile) n.639C>T n.473C>T | ClinVar |
| 18 | g.34794182C>A | CA503734755 | DTNA | c.294C>A (p.Thr98=) c.9C>A (p.Thr3=) c.*305C>A (n.*305C>A) c.255C>A (p.Thr85=) n.308C>A c.300C>A (p.Thr100=) n.640C>A n.474C>A | gnomAD v4 |
| 18 | g.34794182C>G | CA503734756 | DTNA | c.294C>G (p.Thr98=) c.9C>G (p.Thr3=) c.*305C>G (n.*305C>G) c.255C>G (p.Thr85=) n.308C>G c.300C>G (p.Thr100=) n.640C>G n.474C>G | |
| 18 | g.34794182C>T | CA503734757 | DTNA | c.294C>T (p.Thr98=) c.9C>T (p.Thr3=) c.*305C>T (n.*305C>T) c.255C>T (p.Thr85=) n.308C>T c.300C>T (p.Thr100=) n.640C>T n.474C>T | |
| 18 | g.34794183A= | CA2295340821 | DTNA | c.295A= (p.Thr99=) c.10A= (p.Thr4=) c.*306A= (n.*306A=) c.256A= (p.Thr86=) n.309A= c.301A= (p.Thr101=) n.641A= n.475A= | |
| 18 | g.34794183A>C | CA402275062 | DTNA | c.295A>C (p.Thr99Pro) c.10A>C (p.Thr4Pro) c.*306A>C (n.*306A>C) c.256A>C (p.Thr86Pro) n.309A>C c.301A>C (p.Thr101Pro) n.641A>C n.475A>C | |
| 18 | g.34794183A>G | CA237145 | DTNA | c.295A>G (p.Thr99Ala) c.10A>G (p.Thr4Ala) c.*306A>G (n.*306A>G) c.256A>G (p.Thr86Ala) n.309A>G c.301A>G (p.Thr101Ala) n.641A>G n.475A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.34794183A>T | CA402275063 | DTNA | c.295A>T (p.Thr99Ser) c.10A>T (p.Thr4Ser) c.*306A>T (n.*306A>T) c.256A>T (p.Thr86Ser) n.309A>T c.301A>T (p.Thr101Ser) n.641A>T n.475A>T | |
| 18 | g.34794184C>A | CA402275064 | DTNA | c.296C>A (p.Thr99Asn) c.11C>A (p.Thr4Asn) c.*307C>A (n.*307C>A) c.257C>A (p.Thr86Asn) n.310C>A c.302C>A (p.Thr101Asn) n.642C>A n.476C>A | gnomAD v4 |
| 18 | g.34794184C>G | CA402275065 | DTNA | c.296C>G (p.Thr99Ser) c.11C>G (p.Thr4Ser) c.*307C>G (n.*307C>G) c.257C>G (p.Thr86Ser) n.310C>G c.302C>G (p.Thr101Ser) n.642C>G n.476C>G | |
| 18 | g.34794184C>T | CA402275066 | DTNA | c.296C>T (p.Thr99Ile) c.11C>T (p.Thr4Ile) c.*307C>T (n.*307C>T) c.257C>T (p.Thr86Ile) n.310C>T c.302C>T (p.Thr101Ile) n.642C>T n.476C>T | |
| 18 | g.34794185T>A | CA503734760 | DTNA | c.297T>A (p.Thr99=) c.12T>A (p.Thr4=) c.*308T>A (n.*308T>A) c.258T>A (p.Thr86=) n.311T>A c.303T>A (p.Thr101=) n.643T>A n.477T>A | |
| 18 | g.34794185T>C | CA503734758 | DTNA | c.297T>C (p.Thr99=) c.12T>C (p.Thr4=) c.*308T>C (n.*308T>C) c.258T>C (p.Thr86=) n.311T>C c.303T>C (p.Thr101=) n.643T>C n.477T>C | |
| 18 | g.34794185T>G | CA503734759 | DTNA | c.297T>G (p.Thr99=) c.12T>G (p.Thr4=) c.*308T>G (n.*308T>G) c.258T>G (p.Thr86=) n.311T>G c.303T>G (p.Thr101=) n.643T>G n.477T>G | |
| 18 | g.34794186C>A | CA298588004 | DTNA | c.298C>A (p.His100Asn) c.13C>A (p.His5Asn) c.*309C>A (n.*309C>A) c.259C>A (p.His87Asn) n.312C>A n.644C>A n.478C>A | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.34794186C= | CA2295340822 | DTNA | c.298C= (p.His100=) c.13C= (p.His5=) c.*309C= (n.*309C=) c.259C= (p.His87=) n.312C= n.644C= n.478C= | |
| 18 | g.34794186C>G | CA402275067 | DTNA | c.298C>G (p.His100Asp) c.13C>G (p.His5Asp) c.*309C>G (n.*309C>G) c.259C>G (p.His87Asp) n.312C>G n.644C>G n.478C>G | |
| 18 | g.34794186C>T | CA402275068 | DTNA | c.298C>T (p.His100Tyr) c.13C>T (p.His5Tyr) c.*309C>T (n.*309C>T) c.259C>T (p.His87Tyr) n.312C>T n.644C>T n.478C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.34794187A>C | CA402275069 | DTNA | c.299A>C (p.His100Pro) c.14A>C (p.His5Pro) c.*310A>C (n.*310A>C) c.260A>C (p.His87Pro) n.313A>C n.645A>C n.479A>C | |
| 18 | g.34794187A>G | CA402275070 | DTNA | c.299A>G (p.His100Arg) c.14A>G (p.His5Arg) c.*310A>G (n.*310A>G) c.260A>G (p.His87Arg) n.313A>G n.645A>G n.479A>G | dbSNP |
| 18 | g.34794187A>T | CA402275071 | DTNA | c.299A>T (p.His100Leu) c.14A>T (p.His5Leu) c.*310A>T (n.*310A>T) c.260A>T (p.His87Leu) n.313A>T n.645A>T n.479A>T | |
| 18 | g.34794188C>A | CA402275072 | DTNA | c.300C>A (p.His100Gln) c.15C>A (p.His5Gln) c.*311C>A (n.*311C>A) c.261C>A (p.His87Gln) n.314C>A n.646C>A n.480C>A | |
| 18 | g.34794188C= | CA2295340823 | DTNA | c.300C= (p.His100=) c.15C= (p.His5=) c.*311C= (n.*311C=) c.261C= (p.His87=) n.314C= n.646C= n.480C= | |
| 18 | g.34794188C>G | CA402275073 | DTNA | c.300C>G (p.His100Gln) c.15C>G (p.His5Gln) c.*311C>G (n.*311C>G) c.261C>G (p.His87Gln) n.314C>G n.646C>G n.480C>G | |
| 18 | g.34794188C>T | CA8935335 | DTNA | c.300C>T (p.His100=) c.15C>T (p.His5=) c.*311C>T (n.*311C>T) c.261C>T (p.His87=) n.314C>T n.646C>T n.480C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.34794189C>A | CA402275076 | DTNA | c.301C>A (p.Gln101Lys) c.16C>A (p.Gln6Lys) c.*312C>A (n.*312C>A) c.262C>A (p.Gln88Lys) n.315C>A n.647C>A n.481C>A | |
| 18 | g.34794189C>G | CA402275074 | DTNA | c.301C>G (p.Gln101Glu) c.16C>G (p.Gln6Glu) c.*312C>G (n.*312C>G) c.262C>G (p.Gln88Glu) n.315C>G n.647C>G n.481C>G | |
| 18 | g.34794189C>T | CA402275075 | DTNA | c.301C>T (p.Gln101Ter) c.16C>T (p.Gln6Ter) c.*312C>T (n.*312C>T) c.262C>T (p.Gln88Ter) n.315C>T n.647C>T n.481C>T | |
| 18 | g.34794190A>C | CA402275077 | DTNA | c.302A>C (p.Gln101Pro) c.17A>C (p.Gln6Pro) c.*313A>C (n.*313A>C) c.263A>C (p.Gln88Pro) n.316A>C n.648A>C n.482A>C | |
| 18 | g.34794190A>G | CA402275078 | DTNA | c.302A>G (p.Gln101Arg) c.17A>G (p.Gln6Arg) c.*313A>G (n.*313A>G) c.263A>G (p.Gln88Arg) n.316A>G n.648A>G n.482A>G | |
| 18 | g.34794190A>T | CA402275079 | DTNA | c.302A>T (p.Gln101Leu) c.17A>T (p.Gln6Leu) c.*313A>T (n.*313A>T) c.263A>T (p.Gln88Leu) n.316A>T n.648A>T n.482A>T | |
| 18 | g.34794191A>C | CA402275080 | DTNA | c.303A>C (p.Gln101His) c.18A>C (p.Gln6His) c.*314A>C (n.*314A>C) c.264A>C (p.Gln88His) n.317A>C n.649A>C n.483A>C | |
| 18 | g.34794191A>G | CA503734761 | DTNA | c.303A>G (p.Gln101=) c.18A>G (p.Gln6=) c.*314A>G (n.*314A>G) c.264A>G (p.Gln88=) n.317A>G n.649A>G n.483A>G | gnomAD v4 |
| 18 | g.34794191A>T | CA402275081 | DTNA | c.303A>T (p.Gln101His) c.18A>T (p.Gln6His) c.*314A>T (n.*314A>T) c.264A>T (p.Gln88His) n.317A>T n.649A>T n.483A>T | |
| 18 | g.34794192A>C | CA402275082 | DTNA | c.304A>C (p.Ile102Leu) c.19A>C (p.Ile7Leu) c.*315A>C (n.*315A>C) c.265A>C (p.Ile89Leu) n.318A>C n.650A>C n.484A>C | |
| 18 | g.34794192A>G | CA402275083 | DTNA | c.304A>G (p.Ile102Val) c.19A>G (p.Ile7Val) c.*315A>G (n.*315A>G) c.265A>G (p.Ile89Val) n.318A>G n.650A>G n.484A>G | gnomAD v4 |
| 18 | g.34794192A>T | CA402275084 | DTNA | c.304A>T (p.Ile102Phe) c.19A>T (p.Ile7Phe) c.*315A>T (n.*315A>T) c.265A>T (p.Ile89Phe) n.318A>T n.650A>T n.484A>T | |
| 18 | g.34794193T>A | CA402275085 | DTNA | c.305T>A (p.Ile102Asn) c.20T>A (p.Ile7Asn) c.*316T>A (n.*316T>A) c.266T>A (p.Ile89Asn) n.319T>A n.651T>A n.485T>A |