Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51789402A=CA2036172296SCN8Ac.4403A= (p.Asn1468=)
c.2467A=
c.4280A= (p.Asn1427=)
c.4436A= (p.Asn1479=)
12g.51789402A>CCA384908584SCN8Ac.4403A>C (p.Asn1468Thr)
c.2467A>C
c.4280A>C (p.Asn1427Thr)
c.4436A>C (p.Asn1479Thr)
12g.51789402A>GCA16043682SCN8Ac.4403A>G (p.Asn1468Ser)
c.2467A>G
c.4280A>G (p.Asn1427Ser)
c.4436A>G (p.Asn1479Ser)
 ClinVar dbSNP dbSNP gnomAD v4
12g.51789402A>TCA384908583SCN8Ac.4403A>T (p.Asn1468Ile)
c.2467A>T
c.4280A>T (p.Asn1427Ile)
c.4436A>T (p.Asn1479Ile)
12g.51789403T>ACA384908585SCN8Ac.4404T>A (p.Asn1468Lys)
c.2468T>A
c.4281T>A (p.Asn1427Lys)
c.4437T>A (p.Asn1479Lys)
12g.51789403T>CCA479795026SCN8Ac.4404T>C (p.Asn1468=)
c.2468T>C
c.4281T>C (p.Asn1427=)
c.4437T>C (p.Asn1479=)
 ClinVar gnomAD v4
12g.51789403T>GCA384908586SCN8Ac.4404T>G (p.Asn1468Lys)
c.2468T>G
c.4281T>G (p.Asn1427Lys)
c.4437T>G (p.Asn1479Lys)
12g.51789404C>ACA384908587SCN8Ac.4405C>A (p.Gln1469Lys)
c.2469C>A
c.4282C>A (p.Gln1428Lys)
c.4438C>A (p.Gln1480Lys)
 COSMIC COSMIC
12g.51789404C=CA2036172301SCN8Ac.4405C= (p.Gln1469=)
c.2469C=
c.4282C= (p.Gln1428=)
c.4438C= (p.Gln1480=)
12g.51789404C>GCA384908588SCN8Ac.4405C>G (p.Gln1469Glu)
c.2469C>G
c.4282C>G (p.Gln1428Glu)
c.4438C>G (p.Gln1480Glu)
12g.51789404C>TCA384908589SCN8Ac.4405C>T (p.Gln1469Ter)
c.2469C>T
c.4282C>T (p.Gln1428Ter)
c.4438C>T (p.Gln1480Ter)
 dbSNP
12g.51789405A>CCA384908592SCN8Ac.4406A>C (p.Gln1469Pro)
c.2470A>C
c.4283A>C (p.Gln1428Pro)
c.4439A>C (p.Gln1480Pro)
12g.51789405A>GCA384908590SCN8Ac.4406A>G (p.Gln1469Arg)
c.2470A>G
c.4283A>G (p.Gln1428Arg)
c.4439A>G (p.Gln1480Arg)
12g.51789405A>TCA384908591SCN8Ac.4406A>T (p.Gln1469Leu)
c.2470A>T
c.4283A>T (p.Gln1428Leu)
c.4439A>T (p.Gln1480Leu)
12g.51789406A>CCA384908593SCN8Ac.4407A>C (p.Gln1469His)
c.2471A>C
c.4284A>C (p.Gln1428His)
c.4440A>C (p.Gln1480His)
12g.51789406A>GCA479795028SCN8Ac.4407A>G (p.Gln1469=)
c.2471A>G
c.4284A>G (p.Gln1428=)
c.4440A>G (p.Gln1480=)
12g.51789406A>TCA384908594SCN8Ac.4407A>T (p.Gln1469His)
c.2471A>T
c.4284A>T (p.Gln1428His)
c.4440A>T (p.Gln1480His)
12g.51789407C>ACA384908595SCN8Ac.4408C>A (p.Gln1470Lys)
c.2472C>A
c.4285C>A (p.Gln1429Lys)
c.4441C>A (p.Gln1481Lys)
 ClinVar
12g.51789407C=CA2036172307SCN8Ac.4408C= (p.Gln1470=)
c.2472C=
c.4285C= (p.Gln1429=)
c.4441C= (p.Gln1481=)
12g.51789407C>GCA384908596SCN8Ac.4408C>G (p.Gln1470Glu)
c.2472C>G
c.4285C>G (p.Gln1429Glu)
c.4441C>G (p.Gln1481Glu)
 ClinVar
12g.51789407C>TCA384908597SCN8Ac.4408C>T (p.Gln1470Ter)
c.2472C>T
c.4285C>T (p.Gln1429Ter)
c.4441C>T (p.Gln1481Ter)
 dbSNP gnomAD v4
12g.51789407_51789408delinsCACA2036172308SCN8Ac.4408_4409delinsCA (p.Gln1470=)
c.2472_2473delinsCA
c.4285_4286delinsCA (p.Gln1429=)
c.4441_4442delinsCA (p.Gln1481=)
12g.51789408A=CA2036172315SCN8Ac.4409A= (p.Gln1470=)
c.2473A=
c.4286A= (p.Gln1429=)
c.4442A= (p.Gln1481=)
12g.51789408A>CCA384908600SCN8Ac.4409A>C (p.Gln1470Pro)
c.2473A>C
c.4286A>C (p.Gln1429Pro)
c.4442A>C (p.Gln1481Pro)
 ClinVar dbSNP
12g.51789408A>GCA384908599SCN8Ac.4409A>G (p.Gln1470Arg)
c.2473A>G
c.4286A>G (p.Gln1429Arg)
c.4442A>G (p.Gln1481Arg)
 ClinVar dbSNP
12g.51789408A>TCA384908598SCN8Ac.4409A>T (p.Gln1470Leu)
c.2473A>T
c.4286A>T (p.Gln1429Leu)
c.4442A>T (p.Gln1481Leu)
12g.51789411delCA1139662691SCN8Ac.4412del (p.Lys1471ArgfsTer11)
c.2476del
c.4289del (p.Lys1430ArgfsTer11)
c.4445del (p.Lys1482ArgfsTer11)
 ClinVar dbSNP
12g.51789409A>CCA384908601SCN8Ac.4410A>C (p.Gln1470His)
c.2474A>C
c.4287A>C (p.Gln1429His)
c.4443A>C (p.Gln1481His)
12g.51789409A>GCA479795031SCN8Ac.4410A>G (p.Gln1470=)
c.2474A>G
c.4287A>G (p.Gln1429=)
c.4443A>G (p.Gln1481=)
12g.51789409A>TCA384908602SCN8Ac.4410A>T (p.Gln1470His)
c.2474A>T
c.4287A>T (p.Gln1429His)
c.4443A>T (p.Gln1481His)
12g.51789410A=CA2036172323SCN8Ac.4411A= (p.Lys1471=)
c.2475A=
c.4288A= (p.Lys1430=)
c.4444A= (p.Lys1482=)
12g.51789410A>CCA16606653SCN8Ac.4411A>C (p.Lys1471Gln)
c.2475A>C
c.4288A>C (p.Lys1430Gln)
c.4444A>C (p.Lys1482Gln)
 ClinVar dbSNP
12g.51789410A>GCA384908603SCN8Ac.4411A>G (p.Lys1471Glu)
c.2475A>G
c.4288A>G (p.Lys1430Glu)
c.4444A>G (p.Lys1482Glu)
12g.51789410A>TCA384908604SCN8Ac.4411A>T (p.Lys1471Ter)
c.2475A>T
c.4288A>T (p.Lys1430Ter)
c.4444A>T (p.Lys1482Ter)
 dbSNP
12g.51789411A=CA2036172326SCN8Ac.4412A= (p.Lys1471=)
c.2476A=
c.4289A= (p.Lys1430=)
c.4445A= (p.Lys1482=)
12g.51789411A>CCA384908606SCN8Ac.4412A>C (p.Lys1471Thr)
c.2476A>C
c.4289A>C (p.Lys1430Thr)
c.4445A>C (p.Lys1482Thr)
12g.51789411A>GCA384908605SCN8Ac.4412A>G (p.Lys1471Arg)
c.2476A>G
c.4289A>G (p.Lys1430Arg)
c.4445A>G (p.Lys1482Arg)
12g.51789411A>TCA16043756SCN8Ac.4412A>T (p.Lys1471Met)
c.2476A>T
c.4289A>T (p.Lys1430Met)
c.4445A>T (p.Lys1482Met)
 ClinVar dbSNP
12g.51789412G>ACA6571801SCN8Ac.4413G>A (p.Lys1471=)
c.2477G>A
c.4290G>A (p.Lys1430=)
c.4446G>A (p.Lys1482=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789412G>CCA384908607SCN8Ac.4413G>C (p.Lys1471Asn)
c.2477G>C
c.4290G>C (p.Lys1430Asn)
c.4446G>C (p.Lys1482Asn)
12g.51789412G=CA2036172330SCN8Ac.4413G= (p.Lys1471=)
c.2477G=
c.4290G= (p.Lys1430=)
c.4446G= (p.Lys1482=)
12g.51789412G>TCA384908608SCN8Ac.4413G>T (p.Lys1471Asn)
c.2477G>T
c.4290G>T (p.Lys1430Asn)
c.4446G>T (p.Lys1482Asn)
 ClinVar dbSNP
12g.51789413A=CA2036172339SCN8Ac.4414A= (p.Lys1472=)
c.2478A=
c.4291A= (p.Lys1431=)
c.4447A= (p.Lys1483=)
12g.51789413A>CCA384908609SCN8Ac.4414A>C (p.Lys1472Gln)
c.2478A>C
c.4291A>C (p.Lys1431Gln)
c.4447A>C (p.Lys1483Gln)
12g.51789413A>GCA384908610SCN8Ac.4414A>G (p.Lys1472Glu)
c.2478A>G
c.4291A>G (p.Lys1431Glu)
c.4447A>G (p.Lys1483Glu)
12g.51789413A>TCA384908611SCN8Ac.4414A>T (p.Lys1472Ter)
c.2478A>T
c.4291A>T (p.Lys1431Ter)
c.4447A>T (p.Lys1483Ter)
 dbSNP
12g.51789414A>CCA384908612SCN8Ac.4415A>C (p.Lys1472Thr)
c.2479A>C
c.4292A>C (p.Lys1431Thr)
c.4448A>C (p.Lys1483Thr)
12g.51789414A>GCA384908614SCN8Ac.4415A>G (p.Lys1472Arg)
c.2479A>G
c.4292A>G (p.Lys1431Arg)
c.4448A>G (p.Lys1483Arg)
12g.51789414A>TCA384908613SCN8Ac.4415A>T (p.Lys1472Ile)
c.2479A>T
c.4292A>T (p.Lys1431Ile)
c.4448A>T (p.Lys1483Ile)
12g.51789415A=CA2036172343SCN8Ac.4416A= (p.Lys1472=)
c.2480A=
c.4293A= (p.Lys1431=)
c.4449A= (p.Lys1483=)

Number of alleles fetched