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 |
|---|---|---|---|---|---|
| 12 | g.51790411A>C | CA384909028 | SCN8A | c.4433A>C (p.Asp1478Ala) c.2497A>C c.4310A>C (p.Asp1437Ala) c.4466A>C (p.Asp1489Ala) | |
| 12 | g.51790411A>G | CA384909029 | SCN8A | c.4433A>G (p.Asp1478Gly) c.2497A>G c.4310A>G (p.Asp1437Gly) c.4466A>G (p.Asp1489Gly) | |
| 12 | g.51790411A>T | CA384909030 | SCN8A | c.4433A>T (p.Asp1478Val) c.2497A>T c.4310A>T (p.Asp1437Val) c.4466A>T (p.Asp1489Val) | |
| 12 | g.51790412C>A | CA384909031 | SCN8A | c.4434C>A (p.Asp1478Glu) c.2498C>A c.4311C>A (p.Asp1437Glu) c.4467C>A (p.Asp1489Glu) | |
| 12 | g.51790412C>G | CA384909032 | SCN8A | c.4434C>G (p.Asp1478Glu) c.2498C>G c.4311C>G (p.Asp1437Glu) c.4467C>G (p.Asp1489Glu) | |
| 12 | g.51790412C>T | CA479795116 | SCN8A | c.4434C>T (p.Asp1478=) c.2498C>T c.4311C>T (p.Asp1437=) c.4467C>T (p.Asp1489=) | |
| 12 | g.51790413A= | CA2036173427 | SCN8A | c.4435A= (p.Ile1479=) c.2499A= c.4312A= (p.Ile1438=) c.4468A= (p.Ile1490=) | |
| 12 | g.51790413A>C | CA384909033 | SCN8A | c.4435A>C (p.Ile1479Leu) c.2499A>C c.4312A>C (p.Ile1438Leu) c.4468A>C (p.Ile1490Leu) | ClinVar dbSNP |
| 12 | g.51790413A>G | CA318278 | SCN8A | c.4435A>G (p.Ile1479Val) c.2499A>G c.4312A>G (p.Ile1438Val) c.4468A>G (p.Ile1490Val) | ClinVar dbSNP |
| 12 | g.51790413A>T | CA384909034 | SCN8A | c.4435A>T (p.Ile1479Phe) c.2499A>T c.4312A>T (p.Ile1438Phe) c.4468A>T (p.Ile1490Phe) | |
| 12 | g.51790414T>A | CA384909035 | SCN8A | c.4436T>A (p.Ile1479Asn) c.2500T>A c.4313T>A (p.Ile1438Asn) c.4469T>A (p.Ile1490Asn) | |
| 12 | g.51790414T>C | CA384909036 | SCN8A | c.4436T>C (p.Ile1479Thr) c.2500T>C c.4313T>C (p.Ile1438Thr) c.4469T>C (p.Ile1490Thr) | ClinVar dbSNP |
| 12 | g.51790414T>G | CA384909037 | SCN8A | c.4436T>G (p.Ile1479Ser) c.2500T>G c.4313T>G (p.Ile1438Ser) c.4469T>G (p.Ile1490Ser) | |
| 12 | g.51790414T= | CA2036173436 | SCN8A | c.4436T= (p.Ile1479=) c.2500T= c.4313T= (p.Ile1438=) c.4469T= (p.Ile1490=) | |
| 12 | g.51790415C>A | CA479795117 | SCN8A | c.4437C>A (p.Ile1479=) c.2501C>A c.4314C>A (p.Ile1438=) c.4470C>A (p.Ile1490=) | gnomAD v4 |
| 12 | g.51790415C>G | CA384909038 | SCN8A | c.4437C>G (p.Ile1479Met) c.2501C>G c.4314C>G (p.Ile1438Met) c.4470C>G (p.Ile1490Met) | |
| 12 | g.51790415C>T | CA479795118 | SCN8A | c.4437C>T (p.Ile1479=) c.2501C>T c.4314C>T (p.Ile1438=) c.4470C>T (p.Ile1490=) | ClinVar |
| 12 | g.51790416T>A | CA16606654 | SCN8A | c.4438T>A (p.Phe1480Ile) c.2502T>A c.4315T>A (p.Phe1439Ile) c.4471T>A (p.Phe1491Ile) | ClinVar dbSNP |
| 12 | g.51790416T>C | CA318280 | SCN8A | c.4438T>C (p.Phe1480Leu) c.2502T>C c.4315T>C (p.Phe1439Leu) c.4471T>C (p.Phe1491Leu) | ClinVar dbSNP |
| 12 | g.51790416T>G | CA384909039 | SCN8A | c.4438T>G (p.Phe1480Val) c.2502T>G c.4315T>G (p.Phe1439Val) c.4471T>G (p.Phe1491Val) | ClinVar |
| 12 | g.51790416T= | CA2036173444 | SCN8A | c.4438T= (p.Phe1480=) c.2502T= c.4315T= (p.Phe1439=) c.4471T= (p.Phe1491=) | |
| 12 | g.51790417T>A | CA384909040 | SCN8A | c.4439T>A (p.Phe1480Tyr) c.2503T>A c.4316T>A (p.Phe1439Tyr) c.4472T>A (p.Phe1491Tyr) | |
| 12 | g.51790417T>C | CA384909041 | SCN8A | c.4439T>C (p.Phe1480Ser) c.2503T>C c.4316T>C (p.Phe1439Ser) c.4472T>C (p.Phe1491Ser) | |
| 12 | g.51790417T>G | CA384909042 | SCN8A | c.4439T>G (p.Phe1480Cys) c.2503T>G c.4316T>G (p.Phe1439Cys) c.4472T>G (p.Phe1491Cys) | |
| 12 | g.51790418C>A | CA384909043 | SCN8A | c.4440C>A (p.Phe1480Leu) c.2504C>A c.4317C>A (p.Phe1439Leu) c.4473C>A (p.Phe1491Leu) | |
| 12 | g.51790418C>G | CA384909044 | SCN8A | c.4440C>G (p.Phe1480Leu) c.2504C>G c.4317C>G (p.Phe1439Leu) c.4473C>G (p.Phe1491Leu) | |
| 12 | g.51790418C>T | CA479795119 | SCN8A | c.4440C>T (p.Phe1480=) c.2504C>T c.4317C>T (p.Phe1439=) c.4473C>T (p.Phe1491=) | gnomAD v4 |
| 12 | g.51790419A= | CA2036173454 | SCN8A | c.4441A= (p.Met1481=) c.2505A= c.4318A= (p.Met1440=) c.4474A= (p.Met1492=) | |
| 12 | g.51790419A>C | CA384909046 | SCN8A | c.4441A>C (p.Met1481Leu) c.2505A>C c.4318A>C (p.Met1440Leu) c.4474A>C (p.Met1492Leu) | |
| 12 | g.51790419A>G | CA10603278 | SCN8A | c.4441A>G (p.Met1481Val) c.2505A>G c.4318A>G (p.Met1440Val) c.4474A>G (p.Met1492Val) | ClinVar dbSNP |
| 12 | g.51790419A>T | CA384909045 | SCN8A | c.4441A>T (p.Met1481Leu) c.2505A>T c.4318A>T (p.Met1440Leu) c.4474A>T (p.Met1492Leu) | gnomAD v4 |
| 12 | g.51790420T>A | CA318282 | SCN8A | c.4442T>A (p.Met1481Lys) c.2506T>A c.4319T>A (p.Met1440Lys) c.4475T>A (p.Met1492Lys) | dbSNP |
| 12 | g.51790420T>C | CA384909047 | SCN8A | c.4442T>C (p.Met1481Thr) c.2506T>C c.4319T>C (p.Met1440Thr) c.4475T>C (p.Met1492Thr) | |
| 12 | g.51790420T>G | CA384909048 | SCN8A | c.4442T>G (p.Met1481Arg) c.2506T>G c.4319T>G (p.Met1440Arg) c.4475T>G (p.Met1492Arg) | |
| 12 | g.51790420T= | CA2036173460 | SCN8A | c.4442T= (p.Met1481=) c.2506T= c.4319T= (p.Met1440=) c.4475T= (p.Met1492=) | |
| 12 | g.51790421G>A | CA384909049 | SCN8A | c.4443G>A (p.Met1481Ile) c.2507G>A c.4320G>A (p.Met1440Ile) c.4476G>A (p.Met1492Ile) | |
| 12 | g.51790421G>C | CA384909050 | SCN8A | c.4443G>C (p.Met1481Ile) c.2507G>C c.4320G>C (p.Met1440Ile) c.4476G>C (p.Met1492Ile) | |
| 12 | g.51790421G>T | CA384909051 | SCN8A | c.4443G>T (p.Met1481Ile) c.2507G>T c.4320G>T (p.Met1440Ile) c.4476G>T (p.Met1492Ile) | dbSNP gnomAD v4 |
| 12 | g.51790421_51790422delinsT | CA2695216830 | SCN8A | c.4443_4444delinsT (p.Met1481IlefsTer12) c.2507_2508delinsT c.4320_4321delinsT (p.Met1440IlefsTer12) c.4476_4477delinsT (p.Met1492IlefsTer12) | |
| 12 | g.51790421_51790422delinsGA | CA2036173463 | SCN8A | c.4443_4444delinsGA (p.Met1481=) c.2507_2508delinsGA c.4320_4321delinsGA (p.Met1440=) c.4476_4477delinsGA (p.Met1492=) | |
| 12 | g.51790421_51790422delinsTG | CA916083312 | SCN8A | c.4443_4444delinsTG (p.Met1481_Thr1482delinsIleAla) c.2507_2508delinsTG c.4320_4321delinsTG (p.Met1440_Thr1441delinsIleAla) c.4476_4477delinsTG (p.Met1492_Thr1493delinsIleAla) | ClinVar dbSNP |
| 12 | g.51790422A>C | CA384909054 | SCN8A | c.4444A>C (p.Thr1482Pro) c.2508A>C c.4321A>C (p.Thr1441Pro) c.4477A>C (p.Thr1493Pro) | |
| 12 | g.51790422A>G | CA384909053 | SCN8A | c.4444A>G (p.Thr1482Ala) c.2508A>G c.4321A>G (p.Thr1441Ala) c.4477A>G (p.Thr1493Ala) | ClinVar |
| 12 | g.51790422A>T | CA384909052 | SCN8A | c.4444A>T (p.Thr1482Ser) c.2508A>T c.4321A>T (p.Thr1441Ser) c.4477A>T (p.Thr1493Ser) | |
| 12 | g.51790423C>A | CA384909055 | SCN8A | c.4445C>A (p.Thr1482Asn) c.2509C>A c.4322C>A (p.Thr1441Asn) c.4478C>A (p.Thr1493Asn) | ClinVar |
| 12 | g.51790423C>G | CA384909057 | SCN8A | c.4445C>G (p.Thr1482Ser) c.2509C>G c.4322C>G (p.Thr1441Ser) c.4478C>G (p.Thr1493Ser) | |
| 12 | g.51790423C>T | CA384909056 | SCN8A | c.4445C>T (p.Thr1482Ile) c.2509C>T c.4322C>T (p.Thr1441Ile) c.4478C>T (p.Thr1493Ile) | |
| 12 | g.51790424C>A | CA479795120 | SCN8A | c.4446C>A (p.Thr1482=) c.2510C>A c.4323C>A (p.Thr1441=) c.4479C>A (p.Thr1493=) | gnomAD v4 |
| 12 | g.51790424C= | CA2036173467 | SCN8A | c.4446C= (p.Thr1482=) c.2510C= c.4323C= (p.Thr1441=) c.4479C= (p.Thr1493=) | |
| 12 | g.51790424C>G | CA479795121 | SCN8A | c.4446C>G (p.Thr1482=) c.2510C>G c.4323C>G (p.Thr1441=) c.4479C>G (p.Thr1493=) |