Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51790406T>ACA479795112SCN8Ac.4428T>A (p.Gly1476=)
c.2492T>A
c.4305T>A (p.Gly1435=)
c.4461T>A (p.Gly1487=)
12g.51790406T>CCA479795113SCN8Ac.4428T>C (p.Gly1476=)
c.2492T>C
c.4305T>C (p.Gly1435=)
c.4461T>C (p.Gly1487=)
12g.51790406T>GCA479795114SCN8Ac.4428T>G (p.Gly1476=)
c.2492T>G
c.4305T>G (p.Gly1435=)
c.4461T>G (p.Gly1487=)
12g.51790407C>ACA384909017SCN8Ac.4429C>A (p.Gln1477Lys)
c.2493C>A
c.4306C>A (p.Gln1436Lys)
c.4462C>A (p.Gln1488Lys)
12g.51790407C=CA2036173380SCN8Ac.4429C= (p.Gln1477=)
c.2493C=
c.4306C= (p.Gln1436=)
c.4462C= (p.Gln1488=)
12g.51790407C>GCA384909018SCN8Ac.4429C>G (p.Gln1477Glu)
c.2493C>G
c.4306C>G (p.Gln1436Glu)
c.4462C>G (p.Gln1488Glu)
12g.51790407C>TCA384909019SCN8Ac.4429C>T (p.Gln1477Ter)
c.2493C>T
c.4306C>T (p.Gln1436Ter)
c.4462C>T (p.Gln1488Ter)
 dbSNP
12g.51790408A>CCA384909020SCN8Ac.4430A>C (p.Gln1477Pro)
c.2494A>C
c.4307A>C (p.Gln1436Pro)
c.4463A>C (p.Gln1488Pro)
12g.51790408A>GCA384909021SCN8Ac.4430A>G (p.Gln1477Arg)
c.2494A>G
c.4307A>G (p.Gln1436Arg)
c.4463A>G (p.Gln1488Arg)
12g.51790408A>TCA384909022SCN8Ac.4430A>T (p.Gln1477Leu)
c.2494A>T
c.4307A>T (p.Gln1436Leu)
c.4463A>T (p.Gln1488Leu)
12g.51790409G>ACA6571818SCN8Ac.4431G>A (p.Gln1477=)
c.2495G>A
c.4308G>A (p.Gln1436=)
c.4464G>A (p.Gln1488=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51790409G>CCA384909023SCN8Ac.4431G>C (p.Gln1477His)
c.2495G>C
c.4308G>C (p.Gln1436His)
c.4464G>C (p.Gln1488His)
12g.51790409G=CA2036173383SCN8Ac.4431G= (p.Gln1477=)
c.2495G=
c.4308G= (p.Gln1436=)
c.4464G= (p.Gln1488=)
12g.51790409G>TCA384909024SCN8Ac.4431G>T (p.Gln1477His)
c.2495G>T
c.4308G>T (p.Gln1436His)
c.4464G>T (p.Gln1488His)
12g.51790410G>ACA384909026SCN8Ac.4432G>A (p.Asp1478Asn)
c.2496G>A
c.4309G>A (p.Asp1437Asn)
c.4465G>A (p.Asp1489Asn)
 ClinVar dbSNP
12g.51790410G>CCA384909027SCN8Ac.4432G>C (p.Asp1478His)
c.2496G>C
c.4309G>C (p.Asp1437His)
c.4465G>C (p.Asp1489His)
12g.51790410G>TCA384909025SCN8Ac.4432G>T (p.Asp1478Tyr)
c.2496G>T
c.4309G>T (p.Asp1437Tyr)
c.4465G>T (p.Asp1489Tyr)
12g.51790411A>CCA384909028SCN8Ac.4433A>C (p.Asp1478Ala)
c.2497A>C
c.4310A>C (p.Asp1437Ala)
c.4466A>C (p.Asp1489Ala)
12g.51790411A>GCA384909029SCN8Ac.4433A>G (p.Asp1478Gly)
c.2497A>G
c.4310A>G (p.Asp1437Gly)
c.4466A>G (p.Asp1489Gly)
12g.51790411A>TCA384909030SCN8Ac.4433A>T (p.Asp1478Val)
c.2497A>T
c.4310A>T (p.Asp1437Val)
c.4466A>T (p.Asp1489Val)
12g.51790412C>ACA384909031SCN8Ac.4434C>A (p.Asp1478Glu)
c.2498C>A
c.4311C>A (p.Asp1437Glu)
c.4467C>A (p.Asp1489Glu)
12g.51790412C>GCA384909032SCN8Ac.4434C>G (p.Asp1478Glu)
c.2498C>G
c.4311C>G (p.Asp1437Glu)
c.4467C>G (p.Asp1489Glu)
12g.51790412C>TCA479795116SCN8Ac.4434C>T (p.Asp1478=)
c.2498C>T
c.4311C>T (p.Asp1437=)
c.4467C>T (p.Asp1489=)
12g.51790413A=CA2036173427SCN8Ac.4435A= (p.Ile1479=)
c.2499A=
c.4312A= (p.Ile1438=)
c.4468A= (p.Ile1490=)
12g.51790413A>CCA384909033SCN8Ac.4435A>C (p.Ile1479Leu)
c.2499A>C
c.4312A>C (p.Ile1438Leu)
c.4468A>C (p.Ile1490Leu)
 ClinVar dbSNP
12g.51790413A>GCA318278SCN8Ac.4435A>G (p.Ile1479Val)
c.2499A>G
c.4312A>G (p.Ile1438Val)
c.4468A>G (p.Ile1490Val)
 ClinVar dbSNP
12g.51790413A>TCA384909034SCN8Ac.4435A>T (p.Ile1479Phe)
c.2499A>T
c.4312A>T (p.Ile1438Phe)
c.4468A>T (p.Ile1490Phe)
12g.51790414T>ACA384909035SCN8Ac.4436T>A (p.Ile1479Asn)
c.2500T>A
c.4313T>A (p.Ile1438Asn)
c.4469T>A (p.Ile1490Asn)
12g.51790414T>CCA384909036SCN8Ac.4436T>C (p.Ile1479Thr)
c.2500T>C
c.4313T>C (p.Ile1438Thr)
c.4469T>C (p.Ile1490Thr)
 ClinVar dbSNP
12g.51790414T>GCA384909037SCN8Ac.4436T>G (p.Ile1479Ser)
c.2500T>G
c.4313T>G (p.Ile1438Ser)
c.4469T>G (p.Ile1490Ser)
12g.51790414T=CA2036173436SCN8Ac.4436T= (p.Ile1479=)
c.2500T=
c.4313T= (p.Ile1438=)
c.4469T= (p.Ile1490=)
12g.51790415C>ACA479795117SCN8Ac.4437C>A (p.Ile1479=)
c.2501C>A
c.4314C>A (p.Ile1438=)
c.4470C>A (p.Ile1490=)
 gnomAD v4
12g.51790415C>GCA384909038SCN8Ac.4437C>G (p.Ile1479Met)
c.2501C>G
c.4314C>G (p.Ile1438Met)
c.4470C>G (p.Ile1490Met)
12g.51790415C>TCA479795118SCN8Ac.4437C>T (p.Ile1479=)
c.2501C>T
c.4314C>T (p.Ile1438=)
c.4470C>T (p.Ile1490=)
 ClinVar
12g.51790416T>ACA16606654SCN8Ac.4438T>A (p.Phe1480Ile)
c.2502T>A
c.4315T>A (p.Phe1439Ile)
c.4471T>A (p.Phe1491Ile)
 ClinVar dbSNP
12g.51790416T>CCA318280SCN8Ac.4438T>C (p.Phe1480Leu)
c.2502T>C
c.4315T>C (p.Phe1439Leu)
c.4471T>C (p.Phe1491Leu)
 ClinVar dbSNP
12g.51790416T>GCA384909039SCN8Ac.4438T>G (p.Phe1480Val)
c.2502T>G
c.4315T>G (p.Phe1439Val)
c.4471T>G (p.Phe1491Val)
 ClinVar
12g.51790416T=CA2036173444SCN8Ac.4438T= (p.Phe1480=)
c.2502T=
c.4315T= (p.Phe1439=)
c.4471T= (p.Phe1491=)
12g.51790417T>ACA384909040SCN8Ac.4439T>A (p.Phe1480Tyr)
c.2503T>A
c.4316T>A (p.Phe1439Tyr)
c.4472T>A (p.Phe1491Tyr)
12g.51790417T>CCA384909041SCN8Ac.4439T>C (p.Phe1480Ser)
c.2503T>C
c.4316T>C (p.Phe1439Ser)
c.4472T>C (p.Phe1491Ser)
12g.51790417T>GCA384909042SCN8Ac.4439T>G (p.Phe1480Cys)
c.2503T>G
c.4316T>G (p.Phe1439Cys)
c.4472T>G (p.Phe1491Cys)
12g.51790418C>ACA384909043SCN8Ac.4440C>A (p.Phe1480Leu)
c.2504C>A
c.4317C>A (p.Phe1439Leu)
c.4473C>A (p.Phe1491Leu)
12g.51790418C>GCA384909044SCN8Ac.4440C>G (p.Phe1480Leu)
c.2504C>G
c.4317C>G (p.Phe1439Leu)
c.4473C>G (p.Phe1491Leu)
12g.51790418C>TCA479795119SCN8Ac.4440C>T (p.Phe1480=)
c.2504C>T
c.4317C>T (p.Phe1439=)
c.4473C>T (p.Phe1491=)
 gnomAD v4
12g.51790419A=CA2036173454SCN8Ac.4441A= (p.Met1481=)
c.2505A=
c.4318A= (p.Met1440=)
c.4474A= (p.Met1492=)
12g.51790419A>CCA384909046SCN8Ac.4441A>C (p.Met1481Leu)
c.2505A>C
c.4318A>C (p.Met1440Leu)
c.4474A>C (p.Met1492Leu)
12g.51790419A>GCA10603278SCN8Ac.4441A>G (p.Met1481Val)
c.2505A>G
c.4318A>G (p.Met1440Val)
c.4474A>G (p.Met1492Val)
 ClinVar dbSNP
12g.51790419A>TCA384909045SCN8Ac.4441A>T (p.Met1481Leu)
c.2505A>T
c.4318A>T (p.Met1440Leu)
c.4474A>T (p.Met1492Leu)
 gnomAD v4
12g.51790420T>ACA318282SCN8Ac.4442T>A (p.Met1481Lys)
c.2506T>A
c.4319T>A (p.Met1440Lys)
c.4475T>A (p.Met1492Lys)
 dbSNP
12g.51790420T>CCA384909047SCN8Ac.4442T>C (p.Met1481Thr)
c.2506T>C
c.4319T>C (p.Met1440Thr)
c.4475T>C (p.Met1492Thr)

Number of alleles fetched