Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51790401G>A | CA318276 | SCN8A | c.4423G>A (p.Gly1475Arg) c.2487G>A c.4300G>A (p.Gly1434Arg) c.4456G>A (p.Gly1486Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
12 | g.51790401G>C | CA384909007 | SCN8A | c.4423G>C (p.Gly1475Arg) c.2487G>C c.4300G>C (p.Gly1434Arg) c.4456G>C (p.Gly1486Arg) | ClinVar dbSNP |
12 | g.51790401G= | CA2036173366 | SCN8A | c.4423G= (p.Gly1475=) c.2487G= c.4300G= (p.Gly1434=) c.4456G= (p.Gly1486=) | |
12 | g.51790401G>T | CA384909008 | SCN8A | c.4423G>T (p.Gly1475Ter) c.2487G>T c.4300G>T (p.Gly1434Ter) c.4456G>T (p.Gly1486Ter) | dbSNP |
12 | g.51790402G>A | CA384909009 | SCN8A | c.4424G>A (p.Gly1475Glu) c.2488G>A c.4301G>A (p.Gly1434Glu) c.4457G>A (p.Gly1486Glu) | |
12 | g.51790402G>C | CA384909010 | SCN8A | c.4424G>C (p.Gly1475Ala) c.2488G>C c.4301G>C (p.Gly1434Ala) c.4457G>C (p.Gly1486Ala) | |
12 | g.51790402G>T | CA384909011 | SCN8A | c.4424G>T (p.Gly1475Val) c.2488G>T c.4301G>T (p.Gly1434Val) c.4457G>T (p.Gly1486Val) | gnomAD v4 |
12 | g.51790403A>C | CA479795108 | SCN8A | c.4425A>C (p.Gly1475=) c.2489A>C c.4302A>C (p.Gly1434=) c.4458A>C (p.Gly1486=) | |
12 | g.51790403A>G | CA479795109 | SCN8A | c.4425A>G (p.Gly1475=) c.2489A>G c.4302A>G (p.Gly1434=) c.4458A>G (p.Gly1486=) | |
12 | g.51790403A>T | CA479795110 | SCN8A | c.4425A>T (p.Gly1475=) c.2489A>T c.4302A>T (p.Gly1434=) c.4458A>T (p.Gly1486=) | |
12 | g.51790404G>A | CA16619563 | SCN8A | c.4426G>A (p.Gly1476Ser) c.2490G>A c.4303G>A (p.Gly1435Ser) c.4459G>A (p.Gly1487Ser) | ClinVar dbSNP |
12 | g.51790404G>C | CA384909013 | SCN8A | c.4426G>C (p.Gly1476Arg) c.2490G>C c.4303G>C (p.Gly1435Arg) c.4459G>C (p.Gly1487Arg) | |
12 | g.51790404G= | CA2036173375 | SCN8A | c.4426G= (p.Gly1476=) c.2490G= c.4303G= (p.Gly1435=) c.4459G= (p.Gly1487=) | |
12 | g.51790404G>T | CA384909012 | SCN8A | c.4426G>T (p.Gly1476Cys) c.2490G>T c.4303G>T (p.Gly1435Cys) c.4459G>T (p.Gly1487Cys) | ClinVar gnomAD v4 |
12 | g.51790405G>A | CA384909014 | SCN8A | c.4427G>A (p.Gly1476Asp) c.2491G>A c.4304G>A (p.Gly1435Asp) c.4460G>A (p.Gly1487Asp) | ClinVar |
12 | g.51790405G>C | CA384909015 | SCN8A | c.4427G>C (p.Gly1476Ala) c.2491G>C c.4304G>C (p.Gly1435Ala) c.4460G>C (p.Gly1487Ala) | |
12 | g.51790405G>T | CA384909016 | SCN8A | c.4427G>T (p.Gly1476Val) c.2491G>T c.4304G>T (p.Gly1435Val) c.4460G>T (p.Gly1487Val) | |
12 | g.51790406T>A | CA479795112 | SCN8A | c.4428T>A (p.Gly1476=) c.2492T>A c.4305T>A (p.Gly1435=) c.4461T>A (p.Gly1487=) | |
12 | g.51790406T>C | CA479795113 | SCN8A | c.4428T>C (p.Gly1476=) c.2492T>C c.4305T>C (p.Gly1435=) c.4461T>C (p.Gly1487=) | |
12 | g.51790406T>G | CA479795114 | SCN8A | c.4428T>G (p.Gly1476=) c.2492T>G c.4305T>G (p.Gly1435=) c.4461T>G (p.Gly1487=) | |
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) |