Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51790407C>A | CA384909017 | SCN8A | c.4429C>A (p.Gln1477Lys) c.2493C>A c.4306C>A (p.Gln1436Lys) c.4462C>A (p.Gln1488Lys) | |
12 | g.51790407C= | CA2036173380 | SCN8A | c.4429C= (p.Gln1477=) c.2493C= c.4306C= (p.Gln1436=) c.4462C= (p.Gln1488=) | |
12 | g.51790407C>G | CA384909018 | SCN8A | c.4429C>G (p.Gln1477Glu) c.2493C>G c.4306C>G (p.Gln1436Glu) c.4462C>G (p.Gln1488Glu) | |
12 | g.51790407C>T | CA384909019 | SCN8A | c.4429C>T (p.Gln1477Ter) c.2493C>T c.4306C>T (p.Gln1436Ter) c.4462C>T (p.Gln1488Ter) | dbSNP |
12 | g.51790408A>C | CA384909020 | SCN8A | c.4430A>C (p.Gln1477Pro) c.2494A>C c.4307A>C (p.Gln1436Pro) c.4463A>C (p.Gln1488Pro) | |
12 | g.51790408A>G | CA384909021 | SCN8A | c.4430A>G (p.Gln1477Arg) c.2494A>G c.4307A>G (p.Gln1436Arg) c.4463A>G (p.Gln1488Arg) | |
12 | g.51790408A>T | CA384909022 | SCN8A | c.4430A>T (p.Gln1477Leu) c.2494A>T c.4307A>T (p.Gln1436Leu) c.4463A>T (p.Gln1488Leu) | |
12 | g.51790409G>A | CA6571818 | SCN8A | c.4431G>A (p.Gln1477=) c.2495G>A c.4308G>A (p.Gln1436=) c.4464G>A (p.Gln1488=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51790409G>C | CA384909023 | SCN8A | c.4431G>C (p.Gln1477His) c.2495G>C c.4308G>C (p.Gln1436His) c.4464G>C (p.Gln1488His) | |
12 | g.51790409G= | CA2036173383 | SCN8A | c.4431G= (p.Gln1477=) c.2495G= c.4308G= (p.Gln1436=) c.4464G= (p.Gln1488=) | |
12 | g.51790409G>T | CA384909024 | SCN8A | c.4431G>T (p.Gln1477His) c.2495G>T c.4308G>T (p.Gln1436His) c.4464G>T (p.Gln1488His) | |
12 | g.51790410G>A | CA384909026 | SCN8A | c.4432G>A (p.Asp1478Asn) c.2496G>A c.4309G>A (p.Asp1437Asn) c.4465G>A (p.Asp1489Asn) | ClinVar dbSNP |
12 | g.51790410G>C | CA384909027 | SCN8A | c.4432G>C (p.Asp1478His) c.2496G>C c.4309G>C (p.Asp1437His) c.4465G>C (p.Asp1489His) | |
12 | g.51790410G>T | CA384909025 | SCN8A | c.4432G>T (p.Asp1478Tyr) c.2496G>T c.4309G>T (p.Asp1437Tyr) c.4465G>T (p.Asp1489Tyr) | |
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) |