Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52488359_52488362dupCA2618928177KRT6Ac.1393_1396dup (p.Arg466LeufsTer8)
gnomAD v4
12g.52488359A=CA2036520316KRT6Ac.1393T= (p.Tyr465=)
12g.52488359A>CCA384953362KRT6Ac.1393T>G (p.Tyr465Asp)
12g.52488359A>GCA217335KRT6Ac.1393T>C (p.Tyr465His)
ClinVar dbSNP
12g.52488359A>TCA384953364KRT6Ac.1393T>A (p.Tyr465Asn)
12g.52488360G>ACA479853048KRT6Ac.1392C>T (p.Thr464=)
12g.52488360G>CCA479853050KRT6Ac.1392C>G (p.Thr464=)
12g.52488360G>TCA479853049KRT6Ac.1392C>A (p.Thr464=)
12g.52488361G>ACA384953366KRT6Ac.1391C>T (p.Thr464Ile)
12g.52488361G>CCA384953368KRT6Ac.1391C>G (p.Thr464Ser)
12g.52488361G>TCA384953369KRT6Ac.1391C>A (p.Thr464Asn)
12g.52488362T>ACA384953375KRT6Ac.1390A>T (p.Thr464Ser)
12g.52488362T>CCA384953373KRT6Ac.1390A>G (p.Thr464Ala)
12g.52488362T>GCA217334KRT6Ac.1390A>C (p.Thr464Pro)
ClinVar dbSNP
12g.52488362T=CA2036520317KRT6Ac.1390A= (p.Thr464=)
12g.52488363G>ACA479853051KRT6Ac.1389C>T (p.Ala463=)
12g.52488363G>CCA479853052KRT6Ac.1389C>G (p.Ala463=)
12g.52488363G>TCA479853053KRT6Ac.1389C>A (p.Ala463=)
12g.52488364G>ACA384953378KRT6Ac.1388C>T (p.Ala463Val)
dbSNP gnomAD v3 gnomAD v4
12g.52488364G>CCA384953380KRT6Ac.1388C>G (p.Ala463Gly)
12g.52488364G=CA2036520318KRT6Ac.1388C= (p.Ala463=)
12g.52488364G>TCA384953382KRT6Ac.1388C>A (p.Ala463Asp)
12g.52488365C>ACA384953384KRT6Ac.1387G>T (p.Ala463Ser)
dbSNP gnomAD v3 gnomAD v4
12g.52488365C=CA2036520319KRT6Ac.1387G= (p.Ala463=)
12g.52488365C>GCA217333KRT6Ac.1387G>C (p.Ala463Pro)
ClinVar dbSNP
12g.52488365C>TCA384953386KRT6Ac.1387G>A (p.Ala463Thr)
dbSNP gnomAD v2 gnomAD v4
12g.52488366G>ACA6581868KRT6Ac.1386C>T (p.Ile462=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52488366G>CCA384953389KRT6Ac.1386C>G (p.Ile462Met)
12g.52488366G=CA2036520320KRT6Ac.1386C= (p.Ile462=)
12g.52488366G>TCA6581869KRT6Ac.1386C>A (p.Ile462=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52488367A=CA2036520321KRT6Ac.1385T= (p.Ile462=)
12g.52488367A>CCA217332KRT6Ac.1385T>G (p.Ile462Ser)
ClinVar dbSNP
12g.52488367A>GCA384953392KRT6Ac.1385T>C (p.Ile462Thr)
12g.52488367A>TCA217331KRT6Ac.1385T>A (p.Ile462Asn)
ClinVar dbSNP
12g.52488368T>ACA384953398KRT6Ac.1384A>T (p.Ile462Phe)
12g.52488368T>CCA384953396KRT6Ac.1384A>G (p.Ile462Val)
12g.52488368T>GCA384953395KRT6Ac.1384A>C (p.Ile462Leu)
12g.52488369C>ACA384953399KRT6Ac.1383G>T (p.Glu461Asp)
12g.52488369C=CA2036520322KRT6Ac.1383G= (p.Glu461=)
12g.52488369C>GCA384953401KRT6Ac.1383G>C (p.Glu461Asp)
12g.52488369C>TCA479853054KRT6Ac.1383G>A (p.Glu461=)
dbSNP gnomAD v2 gnomAD v4
12g.52488370T>ACA384953403KRT6Ac.1382A>T (p.Glu461Val)
12g.52488370T>CCA384953405KRT6Ac.1382A>G (p.Glu461Gly)
12g.52488370T>GCA384953407KRT6Ac.1382A>C (p.Glu461Ala)
12g.52488371C>ACA384953408KRT6Ac.1381G>T (p.Glu461Ter)
ClinVar dbSNP
12g.52488371C=CA2036520323KRT6Ac.1381G= (p.Glu461=)
12g.52488371C>GCA217329KRT6Ac.1381G>C (p.Glu461Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.52488371C>TCA217327KRT6Ac.1381G>A (p.Glu461Lys)
ClinVar dbSNP
12g.52488372C>ACA479853055KRT6Ac.1380G>T (p.Val460=)
12g.52488372C=CA2036520324KRT6Ac.1380G= (p.Val460=)

Number of alleles fetched