Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.151181424_151181434delCA2685657246ASB10c.613_623del (p.Ala205TrpfsTer?)
c.568_578del (p.Ala190TrpfsTer?)
c.748_758del (p.Ala250TrpfsTer?)
gnomAD v4
7g.151181424C>ACA370034653ASB10c.619G>T (p.Val207Leu)
c.574G>T (p.Val192Leu)
c.754G>T (p.Val252Leu)
7g.151181424C=CA1752540193ASB10c.619G= (p.Val207=)
c.574G= (p.Val192=)
c.754G= (p.Val252=)
7g.151181424C>GCA143899ASB10c.619G>C (p.Val207Leu)
c.574G>C (p.Val192Leu)
c.754G>C (p.Val252Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151181424C>TCA370034655ASB10c.619G>A (p.Val207Met)
c.574G>A (p.Val192Met)
c.754G>A (p.Val252Met)
7g.151181425T>ACA370034657ASB10c.618A>T (p.Arg206Ser)
c.573A>T (p.Arg191Ser)
c.753A>T (p.Arg251Ser)
7g.151181425T>CCA4573813ASB10c.618A>G (p.Arg206=)
c.573A>G (p.Arg191=)
c.753A>G (p.Arg251=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.151181425T>GCA370034659ASB10c.618A>C (p.Arg206Ser)
c.573A>C (p.Arg191Ser)
c.753A>C (p.Arg251Ser)
7g.151181425T=CA1752540199ASB10c.618A= (p.Arg206=)
c.573A= (p.Arg191=)
c.753A= (p.Arg251=)
7g.151181426C>ACA370034661ASB10c.617G>T (p.Arg206Ile)
c.572G>T (p.Arg191Ile)
c.752G>T (p.Arg251Ile)
7g.151181426C=CA1752540203ASB10c.617G= (p.Arg206=)
c.572G= (p.Arg191=)
c.752G= (p.Arg251=)
7g.151181426C>GCA370034662ASB10c.617G>C (p.Arg206Thr)
c.572G>C (p.Arg191Thr)
c.752G>C (p.Arg251Thr)
gnomAD v4
7g.151181426C>TCA4573814ASB10c.617G>A (p.Arg206Lys)
c.572G>A (p.Arg191Lys)
c.752G>A (p.Arg251Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.151181427T>ACA370034664ASB10c.616A>T (p.Arg206Ter)
c.571A>T (p.Arg191Ter)
c.751A>T (p.Arg251Ter)
7g.151181427T>CCA370034666ASB10c.616A>G (p.Arg206Gly)
c.571A>G (p.Arg191Gly)
c.751A>G (p.Arg251Gly)
dbSNP
7g.151181427T>GCA458881274ASB10c.616A>C (p.Arg206=)
c.571A>C (p.Arg191=)
c.751A>C (p.Arg251=)
7g.151181427T=CA1752540208ASB10c.616A= (p.Arg206=)
c.571A= (p.Arg191=)
c.751A= (p.Arg251=)
7g.151181427_151181428delinsTCCA1752540206ASB10c.615_616delinsGA (p.Ala205=)
c.570_571delinsGA (p.Ala190=)
c.750_751delinsGA (p.Ala250=)
7g.151181428delCA579077205ASB10c.615del (p.Arg206GlufsTer?)
c.570del (p.Arg191GlufsTer?)
c.750del (p.Arg251GlufsTer?)
dbSNP gnomAD v2 gnomAD v4
7g.151181428C>ACA458881275ASB10c.615G>T (p.Ala205=)
c.570G>T (p.Ala190=)
c.750G>T (p.Ala250=)
dbSNP gnomAD v2 gnomAD v4
7g.151181428C=CA1752540212ASB10c.615G= (p.Ala205=)
c.570G= (p.Ala190=)
c.750G= (p.Ala250=)
7g.151181428C>GCA458881277ASB10c.615G>C (p.Ala205=)
c.570G>C (p.Ala190=)
c.750G>C (p.Ala250=)
7g.151181428C>TCA4573815ASB10c.615G>A (p.Ala205=)
c.570G>A (p.Ala190=)
c.750G>A (p.Ala250=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
7g.151181429delCA2579066536ASB10c.614del (p.Ala205GlyfsTer?)
c.569del (p.Ala190GlyfsTer?)
c.749del (p.Ala250GlyfsTer?)
7g.151181429G>ACA4573816ASB10c.614C>T (p.Ala205Val)
c.569C>T (p.Ala190Val)
c.749C>T (p.Ala250Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151181429G>CCA370034669ASB10c.614C>G (p.Ala205Gly)
c.569C>G (p.Ala190Gly)
c.749C>G (p.Ala250Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151181429G=CA1752540216ASB10c.614C= (p.Ala205=)
c.569C= (p.Ala190=)
c.749C= (p.Ala250=)
7g.151181429G>TCA4573817ASB10c.614C>A (p.Ala205Glu)
c.569C>A (p.Ala190Glu)
c.749C>A (p.Ala250Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151181430C>ACA370034671ASB10c.613G>T (p.Ala205Ser)
c.568G>T (p.Ala190Ser)
c.748G>T (p.Ala250Ser)
gnomAD v4
7g.151181430C>GCA370034673ASB10c.613G>C (p.Ala205Pro)
c.568G>C (p.Ala190Pro)
c.748G>C (p.Ala250Pro)
7g.151181430C>TCA370034674ASB10c.613G>A (p.Ala205Thr)
c.568G>A (p.Ala190Thr)
c.748G>A (p.Ala250Thr)
7g.151181431delCA2685657247ASB10c.612del (p.Ala205ArgfsTer?)
c.567del (p.Ala190ArgfsTer?)
c.747del (p.Ala250ArgfsTer?)
gnomAD v4
7g.151181431T>ACA458881281ASB10c.612A>T (p.Gly204=)
c.567A>T (p.Gly189=)
c.747A>T (p.Gly249=)
dbSNP gnomAD v2 gnomAD v4
7g.151181431T>CCA458881282ASB10c.612A>G (p.Gly204=)
c.567A>G (p.Gly189=)
c.747A>G (p.Gly249=)
dbSNP
7g.151181431T>GCA458881284ASB10c.612A>C (p.Gly204=)
c.567A>C (p.Gly189=)
c.747A>C (p.Gly249=)
7g.151181431T=CA1752540225ASB10c.612A= (p.Gly204=)
c.567A= (p.Gly189=)
c.747A= (p.Gly249=)
7g.151181432C>ACA370034676ASB10c.611G>T (p.Gly204Val)
c.566G>T (p.Gly189Val)
c.746G>T (p.Gly249Val)
7g.151181432C>GCA370034678ASB10c.611G>C (p.Gly204Ala)
c.566G>C (p.Gly189Ala)
c.746G>C (p.Gly249Ala)
7g.151181432C>TCA370034679ASB10c.611G>A (p.Gly204Glu)
c.566G>A (p.Gly189Glu)
c.746G>A (p.Gly249Glu)
gnomAD v4
7g.151181434_151181438delCA2685657248ASB10c.607_611del (p.Phe203SerfsTer?)
c.562_566del (p.Phe188SerfsTer?)
c.742_746del (p.Phe248SerfsTer?)
gnomAD v4
7g.151181433C>ACA370034681ASB10c.610G>T (p.Gly204Ter)
c.565G>T (p.Gly189Ter)
c.745G>T (p.Gly249Ter)
7g.151181433C=CA1752540230ASB10c.610G= (p.Gly204=)
c.565G= (p.Gly189=)
c.745G= (p.Gly249=)
7g.151181433C>GCA370034682ASB10c.610G>C (p.Gly204Arg)
c.565G>C (p.Gly189Arg)
c.745G>C (p.Gly249Arg)
7g.151181433C>TCA370034684ASB10c.610G>A (p.Gly204Arg)
c.565G>A (p.Gly189Arg)
c.745G>A (p.Gly249Arg)
dbSNP
7g.151181434A>CCA370034686ASB10c.609T>G (p.Phe203Leu)
c.564T>G (p.Phe188Leu)
c.744T>G (p.Phe248Leu)
7g.151181434A>GCA458881290ASB10c.609T>C (p.Phe203=)
c.564T>C (p.Phe188=)
c.744T>C (p.Phe248=)
7g.151181434A>TCA370034687ASB10c.609T>A (p.Phe203Leu)
c.564T>A (p.Phe188Leu)
c.744T>A (p.Phe248Leu)
7g.151181435A=CA1752540233ASB10c.608T= (p.Phe203=)
c.563T= (p.Phe188=)
c.743T= (p.Phe248=)
7g.151181435A>CCA4573818ASB10c.608T>G (p.Phe203Cys)
c.563T>G (p.Phe188Cys)
c.743T>G (p.Phe248Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.151181435A>GCA370034690ASB10c.608T>C (p.Phe203Ser)
c.563T>C (p.Phe188Ser)
c.743T>C (p.Phe248Ser)
gnomAD v4

Number of alleles fetched