Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.41583108T>ACA399474910KRT14c.1307A>T (p.Gln436Leu)
n.254A>T
17g.41583108T>CCA399474913KRT14c.1307A>G (p.Gln436Arg)
n.254A>G
17g.41583108T>GCA399474915KRT14c.1307A>C (p.Gln436Pro)
n.254A>C
17g.41583108_41583109delCA2637834186KRT14c.1306_1307del (p.Gln436ValfsTer?)
n.253_254del
gnomAD v4
17g.41583109G>ACA399474918KRT14c.1306C>T (p.Gln436Ter)
n.253C>T
17g.41583109G>CCA399474920KRT14c.1306C>G (p.Gln436Glu)
n.253C>G
17g.41583109G>TCA399474923KRT14c.1306C>A (p.Gln436Lys)
n.253C>A
17g.41583110C>ACA500205059KRT14c.1305G>T (p.Ser435=)
n.252G>T
17g.41583110C=CA2260085217KRT14c.1305G= (p.Ser435=)
n.252G=
17g.41583110C>GCA500205060KRT14c.1305G>C (p.Ser435=)
n.252G>C
gnomAD v4
17g.41583110C>TCA8562413KRT14c.1305G>A (p.Ser435=)
n.252G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41583110_41583121delinsCGATCCAGAGGACA2260085218KRT14c.1294_1305delinsTCCTCTGGATCG (p.Ser432=)
n.241_252delinsTCCTCTGGATCG
17g.41583111G>ACA8562416KRT14c.1304C>T (p.Ser435Leu)
n.251C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.41583111G>CCA399474931KRT14c.1304C>G (p.Ser435Trp)
n.251C>G
17g.41583111G=CA2260085219KRT14c.1304C= (p.Ser435=)
n.251C=
17g.41583111G>TCA8562415KRT14c.1304C>A (p.Ser435Ter)
n.251C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41583113_41583123delCA8562414KRT14c.1294_1304del (p.Ser432AlafsTer?)
n.241_251del
dbSNP ExAC gnomAD v3 gnomAD v4
17g.41583112A>CCA399474936KRT14c.1303T>G (p.Ser435Ala)
n.250T>G
17g.41583112A>GCA399474938KRT14c.1303T>C (p.Ser435Pro)
n.250T>C
17g.41583112A>TCA399474940KRT14c.1303T>A (p.Ser435Thr)
n.250T>A
17g.41583113T>ACA500205063KRT14c.1302A>T (p.Gly434=)
n.249A>T
17g.41583113T>CCA500205064KRT14c.1302A>G (p.Gly434=)
n.249A>G
gnomAD v4
17g.41583113T>GCA500205065KRT14c.1302A>C (p.Gly434=)
n.249A>C
17g.41583113T=CA2260085220KRT14c.1302A= (p.Gly434=)
n.249A=
17g.41583114C>ACA399474943KRT14c.1301G>T (p.Gly434Val)
n.248G>T
dbSNP gnomAD v2 gnomAD v4
17g.41583114C=CA2260085221KRT14c.1301G= (p.Gly434=)
n.248G=
17g.41583114C>GCA399474946KRT14c.1301G>C (p.Gly434Ala)
n.248G>C
17g.41583114C>TCA399474948KRT14c.1301G>A (p.Gly434Glu)
n.248G>A
17g.41583115dupCA290664724KRT14c.1301dup (p.Ser435IlefsTer?)
n.248dup
dbSNP
17g.41583115C>ACA399474949KRT14c.1300G>T (p.Gly434Ter)
n.247G>T
17g.41583115C=CA2260085222KRT14c.1300G= (p.Gly434=)
n.247G=
17g.41583115C>GCA399474950KRT14c.1300G>C (p.Gly434Arg)
n.247G>C
17g.41583115C>TCA399474951KRT14c.1300G>A (p.Gly434Arg)
n.247G>A
dbSNP COSMIC
17g.41583116A>CCA500205071KRT14c.1299T>G (p.Ser433=)
n.246T>G
17g.41583116A>GCA500205072KRT14c.1299T>C (p.Ser433=)
n.246T>C
17g.41583116A>TCA500205073KRT14c.1299T>A (p.Ser433=)
n.246T>A
17g.41583117G>ACA290664726KRT14c.1298C>T (p.Ser433Phe)
n.245C>T
17g.41583117G>CCA399474953KRT14c.1298C>G (p.Ser433Cys)
n.245C>G
17g.41583117G>TCA399474954KRT14c.1298C>A (p.Ser433Tyr)
n.245C>A
17g.41583118A>CCA399474956KRT14c.1297T>G (p.Ser433Ala)
n.244T>G
17g.41583118A>GCA399474960KRT14c.1297T>C (p.Ser433Pro)
n.244T>C
17g.41583118A>TCA399474958KRT14c.1297T>A (p.Ser433Thr)
n.244T>A
17g.41583119G>ACA500205076KRT14c.1296C>T (p.Ser432=)
n.243C>T
dbSNP gnomAD v2
17g.41583119G>CCA500205078KRT14c.1296C>G (p.Ser432=)
n.243C>G
17g.41583119G=CA2260085223KRT14c.1296C= (p.Ser432=)
n.243C=
17g.41583119G>TCA500205077KRT14c.1296C>A (p.Ser432=)
n.243C>A
17g.41583120G>ACA399474964KRT14c.1295C>T (p.Ser432Phe)
n.242C>T
gnomAD v4
17g.41583120G>CCA399474968KRT14c.1295C>G (p.Ser432Cys)
n.242C>G
17g.41583120G>TCA399474966KRT14c.1295C>A (p.Ser432Tyr)
n.242C>A
17g.41583121A>CCA399474971KRT14c.1294T>G (p.Ser432Ala)
n.241T>G

Number of alleles fetched