Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.43100540_43100543delCA2695211966RETc.155_158del (p.Tyr52SerfsTer?)
c.57_60del
c.74-10667_74-10664del (n.74-10667_74-10664del)
c.74-11559_74-11556del (n.74-11559_74-11556del)
10g.43100540A>CCA376770209RETc.155A>C (p.Tyr52Ser)
c.57A>C
c.74-10667A>C (n.74-10667A>C)
c.74-11559A>C (n.74-11559A>C)
ClinVar dbSNP
10g.43100540A>GCA376770210RETc.155A>G (p.Tyr52Cys)
c.57A>G
c.74-10667A>G (n.74-10667A>G)
c.74-11559A>G (n.74-11559A>G)
dbSNP
10g.43100540A>TCA376770211RETc.155A>T (p.Tyr52Phe)
c.57A>T
c.74-10667A>T (n.74-10667A>T)
c.74-11559A>T (n.74-11559A>T)
dbSNP
10g.43100541C>ACA376770212RETc.156C>A (p.Tyr52Ter)
c.58C>A
c.74-10666C>A (n.74-10666C>A)
c.74-11558C>A (n.74-11558C>A)
dbSNP
10g.43100541C=CA1905836787RETc.156C= (p.Tyr52=)
c.58C=
c.74-10666C= (n.74-10666C=)
c.74-11558C= (n.74-11558C=)
10g.43100541C>GCA376770213RETc.156C>G (p.Tyr52Ter)
c.58C>G
c.74-10666C>G (n.74-10666C>G)
c.74-11558C>G (n.74-11558C>G)
dbSNP
10g.43100541C>TCA206713120RETc.156C>T (p.Tyr52=)
c.58C>T
c.74-10666C>T (n.74-10666C>T)
c.74-11558C>T (n.74-11558C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.43100542G>ACA034527RETc.157G>A (p.Val53Ile)
c.59G>A
c.74-10665G>A (n.74-10665G>A)
c.74-11557G>A (n.74-11557G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100542G>CCA376770214RETc.157G>C (p.Val53Leu)
c.59G>C
c.74-10665G>C (n.74-10665G>C)
c.74-11557G>C (n.74-11557G>C)
dbSNP
10g.43100542G=CA1905836788RETc.157G= (p.Val53=)
c.59G=
c.74-10665G= (n.74-10665G=)
c.74-11557G= (n.74-11557G=)
10g.43100542G>TCA376770215RETc.157G>T (p.Val53Phe)
c.59G>T
c.74-10665G>T (n.74-10665G>T)
c.74-11557G>T (n.74-11557G>T)
10g.43100543T>ACA376770216RETc.158T>A (p.Val53Asp)
c.60T>A
c.74-10664T>A (n.74-10664T>A)
c.74-11556T>A (n.74-11556T>A)
10g.43100543T>CCA376770217RETc.158T>C (p.Val53Ala)
c.60T>C
c.74-10664T>C (n.74-10664T>C)
c.74-11556T>C (n.74-11556T>C)
ClinVar dbSNP
10g.43100543T>GCA376770218RETc.158T>G (p.Val53Gly)
c.60T>G
c.74-10664T>G (n.74-10664T>G)
c.74-11556T>G (n.74-11556T>G)
COSMIC COSMIC
10g.43100544C>ACA469490478RETc.159C>A (p.Val53=)
c.61C>A
c.74-10663C>A (n.74-10663C>A)
c.74-11555C>A (n.74-11555C>A)
10g.43100544C=CA1905836789RETc.159C= (p.Val53=)
c.61C=
c.74-10663C= (n.74-10663C=)
c.74-11555C= (n.74-11555C=)
10g.43100544C>GCA469490479RETc.159C>G (p.Val53=)
c.61C>G
c.74-10663C>G (n.74-10663C>G)
c.74-11555C>G (n.74-11555C>G)
ClinVar
10g.43100544C>TCA034592RETc.159C>T (p.Val53=)
c.61C>T
c.74-10663C>T (n.74-10663C>T)
c.74-11555C>T (n.74-11555C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100545C>ACA376770220RETc.160C>A (p.His54Asn)
c.62C>A
c.74-10662C>A (n.74-10662C>A)
c.74-11554C>A (n.74-11554C>A)
dbSNP
10g.43100545C>GCA376770221RETc.160C>G (p.His54Asp)
c.62C>G
c.74-10662C>G (n.74-10662C>G)
c.74-11554C>G (n.74-11554C>G)
dbSNP
10g.43100545C>TCA376770219RETc.160C>T (p.His54Tyr)
c.62C>T
c.74-10662C>T (n.74-10662C>T)
c.74-11554C>T (n.74-11554C>T)
ClinVar dbSNP
10g.43100546A=CA1905836790RETc.161A= (p.His54=)
c.63A=
c.74-10661A= (n.74-10661A=)
c.74-11553A= (n.74-11553A=)
10g.43100546A>CCA376770222RETc.161A>C (p.His54Pro)
c.63A>C
c.74-10661A>C (n.74-10661A>C)
c.74-11553A>C (n.74-11553A>C)
dbSNP
10g.43100546A>GCA034670RETc.161A>G (p.His54Arg)
c.63A>G
c.74-10661A>G (n.74-10661A>G)
c.74-11553A>G (n.74-11553A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100546A>TCA376770223RETc.161A>T (p.His54Leu)
c.63A>T
c.74-10661A>T (n.74-10661A>T)
c.74-11553A>T (n.74-11553A>T)
dbSNP
10g.43100547delCA913185932RETc.162del (p.His54GlnfsTer?)
c.64del
c.74-10660del (n.74-10660del)
c.74-11552del (n.74-11552del)
10g.43100547T>ACA376770224RETc.162T>A (p.His54Gln)
c.64T>A
c.74-10660T>A (n.74-10660T>A)
c.74-11552T>A (n.74-11552T>A)
dbSNP
10g.43100547T>CCA469490485RETc.162T>C (p.His54=)
c.64T>C
c.74-10660T>C (n.74-10660T>C)
c.74-11552T>C (n.74-11552T>C)
ClinVar dbSNP
10g.43100547T>GCA376770225RETc.162T>G (p.His54Gln)
c.64T>G
c.74-10660T>G (n.74-10660T>G)
c.74-11552T>G (n.74-11552T>G)
dbSNP
10g.43100547_43100549delinsGGCA913185933RETc.162_164delinsGG (p.His54GlnfsTer?)
c.64_66delinsGG
c.74-10660_74-10658delinsGG (n.74-10660_74-10658delinsGG)
c.74-11552_74-11550delinsGG (n.74-11552_74-11550delinsGG)
10g.43100548G>ACA376770226RETc.163G>A (p.Ala55Thr)
c.65G>A
c.74-10659G>A (n.74-10659G>A)
c.74-11551G>A (n.74-11551G>A)
dbSNP
10g.43100548G>CCA376770227RETc.163G>C (p.Ala55Pro)
c.65G>C
c.74-10659G>C (n.74-10659G>C)
c.74-11551G>C (n.74-11551G>C)
dbSNP
10g.43100548G>TCA376770228RETc.163G>T (p.Ala55Ser)
c.65G>T
c.74-10659G>T (n.74-10659G>T)
c.74-11551G>T (n.74-11551G>T)
10g.43100549C>ACA376770229RETc.164C>A (p.Ala55Asp)
c.66C>A
c.74-10658C>A (n.74-10658C>A)
c.74-11550C>A (n.74-11550C>A)
dbSNP
10g.43100549C=CA1905836791RETc.164C= (p.Ala55=)
c.66C=
c.74-10658C= (n.74-10658C=)
c.74-11550C= (n.74-11550C=)
10g.43100549C>GCA376770230RETc.164C>G (p.Ala55Gly)
c.66C>G
c.74-10658C>G (n.74-10658C>G)
c.74-11550C>G (n.74-11550C>G)
dbSNP
10g.43100549C>TCA376770231RETc.164C>T (p.Ala55Val)
c.66C>T
c.74-10658C>T (n.74-10658C>T)
c.74-11550C>T (n.74-11550C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43100550C>ACA469490493RETc.165C>A (p.Ala55=)
c.67C>A
c.74-10657C>A (n.74-10657C>A)
c.74-11549C>A (n.74-11549C>A)
dbSNP
10g.43100550C=CA1905836792RETc.165C= (p.Ala55=)
c.67C=
c.74-10657C= (n.74-10657C=)
c.74-11549C= (n.74-11549C=)
10g.43100550C>GCA034946RETc.165C>G (p.Ala55=)
c.67C>G
c.74-10657C>G (n.74-10657C>G)
c.74-11549C>G (n.74-11549C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100550C>TCA469490494RETc.165C>T (p.Ala55=)
c.67C>T
c.74-10657C>T (n.74-10657C>T)
c.74-11549C>T (n.74-11549C>T)
dbSNP
10g.43100551C>ACA007702RETc.166C>A (p.Leu56Met)
c.68C>A
c.74-10656C>A (n.74-10656C>A)
c.74-11548C>A (n.74-11548C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100551C=CA1905836793RETc.166C= (p.Leu56=)
c.68C=
c.74-10656C= (n.74-10656C=)
c.74-11548C= (n.74-11548C=)
10g.43100551C>GCA376770232RETc.166C>G (p.Leu56Val)
c.68C>G
c.74-10656C>G (n.74-10656C>G)
c.74-11548C>G (n.74-11548C>G)
dbSNP
10g.43100551C>TCA035002RETc.166C>T (p.Leu56=)
c.68C>T
c.74-10656C>T (n.74-10656C>T)
c.74-11548C>T (n.74-11548C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100552T>ACA376770233RETc.167T>A (p.Leu56Gln)
c.69T>A
c.74-10655T>A (n.74-10655T>A)
c.74-11547T>A (n.74-11547T>A)
dbSNP
10g.43100552T>CCA376770234RETc.167T>C (p.Leu56Pro)
c.69T>C
c.74-10655T>C (n.74-10655T>C)
c.74-11547T>C (n.74-11547T>C)
dbSNP
10g.43100552T>GCA376770235RETc.167T>G (p.Leu56Arg)
c.69T>G
c.74-10655T>G (n.74-10655T>G)
c.74-11547T>G (n.74-11547T>G)
10g.43100553G>ACA469490504RETc.168G>A (p.Leu56=)
c.70G>A
c.74-10654G>A (n.74-10654G>A)
c.74-11546G>A (n.74-11546G>A)
dbSNP
10g.43100553G>CCA469490502RETc.168G>C (p.Leu56=)
c.70G>C
c.74-10654G>C (n.74-10654G>C)
c.74-11546G>C (n.74-11546G>C)
dbSNP
10g.43100553G>TCA469490503RETc.168G>T (p.Leu56=)
c.70G>T
c.74-10654G>T (n.74-10654G>T)
c.74-11546G>T (n.74-11546G>T)
10g.43100554C>ACA469490506RETc.169C>A (p.Arg57=)
c.71C>A
c.74-10653C>A (n.74-10653C>A)
c.74-11545C>A (n.74-11545C>A)
dbSNP
10g.43100554C=CA1905836794RETc.169C= (p.Arg57=)
c.71C=
c.74-10653C= (n.74-10653C=)
c.74-11545C= (n.74-11545C=)
10g.43100554C>GCA376770236RETc.169C>G (p.Arg57Gly)
c.71C>G
c.74-10653C>G (n.74-10653C>G)
c.74-11545C>G (n.74-11545C>G)
ClinVar dbSNP
10g.43100554C>TCA10578857RETc.169C>T (p.Arg57Trp)
c.71C>T
c.74-10653C>T (n.74-10653C>T)
c.74-11545C>T (n.74-11545C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100555G>ACA035162RETc.170G>A (p.Arg57Gln)
c.72G>A
c.74-10652G>A (n.74-10652G>A)
c.74-11544G>A (n.74-11544G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100555G>CCA376770238RETc.170G>C (p.Arg57Pro)
c.72G>C
c.74-10652G>C (n.74-10652G>C)
c.74-11544G>C (n.74-11544G>C)
10g.43100555G=CA1905836795RETc.170G= (p.Arg57=)
c.72G=
c.74-10652G= (n.74-10652G=)
c.74-11544G= (n.74-11544G=)
10g.43100555G>TCA376770237RETc.170G>T (p.Arg57Leu)
c.72G>T
c.74-10652G>T (n.74-10652G>T)
c.74-11544G>T (n.74-11544G>T)
10g.43100557delCA891842070RETc.172del (p.Asp58ThrfsTer?)
c.74del
c.74-10650del (n.74-10650del)
c.74-11542del (n.74-11542del)
10g.43100556G>ACA469490509RETc.171G>A (p.Arg57=)
c.73G>A
c.74-10651G>A (n.74-10651G>A)
c.74-11543G>A (n.74-11543G>A)
ClinVar dbSNP
10g.43100556G>CCA469490510RETc.171G>C (p.Arg57=)
c.73G>C
c.74-10651G>C (n.74-10651G>C)
c.74-11543G>C (n.74-11543G>C)
dbSNP
10g.43100556G>TCA469490512RETc.171G>T (p.Arg57=)
c.73G>T
c.74-10651G>T (n.74-10651G>T)
c.74-11543G>T (n.74-11543G>T)
dbSNP
10g.43100557G>ACA376770239RETc.172G>A (p.Asp58Asn)
c.74G>A
c.74-10650G>A (n.74-10650G>A)
c.74-11542G>A (n.74-11542G>A)
ClinVar dbSNP gnomAD v2
10g.43100557G>CCA376770240RETc.172G>C (p.Asp58His)
c.74G>C
c.74-10650G>C (n.74-10650G>C)
c.74-11542G>C (n.74-11542G>C)
dbSNP
10g.43100557G=CA1905836796RETc.172G= (p.Asp58=)
c.74G=
c.74-10650G= (n.74-10650G=)
c.74-11542G= (n.74-11542G=)
10g.43100557G>TCA376770241RETc.172G>T (p.Asp58Tyr)
c.74G>T
c.74-10650G>T (n.74-10650G>T)
c.74-11542G>T (n.74-11542G>T)
dbSNP
10g.43100558A>CCA376770242RETc.173A>C (p.Asp58Ala)
c.75A>C
c.74-10649A>C (n.74-10649A>C)
c.74-11541A>C (n.74-11541A>C)
dbSNP
10g.43100558A>GCA376770243RETc.173A>G (p.Asp58Gly)
c.75A>G
c.74-10649A>G (n.74-10649A>G)
c.74-11541A>G (n.74-11541A>G)
dbSNP
10g.43100558A>TCA376770244RETc.173A>T (p.Asp58Val)
c.75A>T
c.74-10649A>T (n.74-10649A>T)
c.74-11541A>T (n.74-11541A>T)
dbSNP
10g.43100559C>ACA376770246RETc.174C>A (p.Asp58Glu)
c.76C>A
c.74-10648C>A (n.74-10648C>A)
c.74-11540C>A (n.74-11540C>A)
10g.43100559C=CA1905836797RETc.174C= (p.Asp58=)
c.76C=
c.74-10648C= (n.74-10648C=)
c.74-11540C= (n.74-11540C=)
10g.43100559C>GCA376770245RETc.174C>G (p.Asp58Glu)
c.76C>G
c.74-10648C>G (n.74-10648C>G)
c.74-11540C>G (n.74-11540C>G)
dbSNP
10g.43100559C>TCA035259RETc.174C>T (p.Asp58=)
c.76C>T
c.74-10648C>T (n.74-10648C>T)
c.74-11540C>T (n.74-11540C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100560G>ACA035435RETc.175G>A (p.Ala59Thr)
c.77G>A
c.74-10647G>A (n.74-10647G>A)
c.74-11539G>A (n.74-11539G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100560G>CCA376770248RETc.175G>C (p.Ala59Pro)
c.77G>C
c.74-10647G>C (n.74-10647G>C)
c.74-11539G>C (n.74-11539G>C)
dbSNP
10g.43100560G=CA1905836798RETc.175G= (p.Ala59=)
c.77G=
c.74-10647G= (n.74-10647G=)
c.74-11539G= (n.74-11539G=)
10g.43100560G>TCA376770247RETc.175G>T (p.Ala59Ser)
c.77G>T
c.74-10647G>T (n.74-10647G>T)
c.74-11539G>T (n.74-11539G>T)
gnomAD v4
10g.43100561C>ACA376770249RETc.176C>A (p.Ala59Asp)
c.78C>A
c.74-10646C>A (n.74-10646C>A)
c.74-11538C>A (n.74-11538C>A)
10g.43100561C=CA1905836799RETc.176C= (p.Ala59=)
c.78C=
c.74-10646C= (n.74-10646C=)
c.74-11538C= (n.74-11538C=)
10g.43100561C>GCA376770250RETc.176C>G (p.Ala59Gly)
c.78C>G
c.74-10646C>G (n.74-10646C>G)
c.74-11538C>G (n.74-11538C>G)
10g.43100561C>TCA376770251RETc.176C>T (p.Ala59Val)
c.78C>T
c.74-10646C>T (n.74-10646C>T)
c.74-11538C>T (n.74-11538C>T)
ClinVar dbSNP
10g.43100562C>ACA035632RETc.177C>A (p.Ala59=)
c.79C>A
c.74-10645C>A (n.74-10645C>A)
c.74-11537C>A (n.74-11537C>A)
ClinVar dbSNP ExAC gnomAD v2
10g.43100562C=CA1905836800RETc.177C= (p.Ala59=)
c.79C=
c.74-10645C= (n.74-10645C=)
c.74-11537C= (n.74-11537C=)
10g.43100562C>GCA469490525RETc.177C>G (p.Ala59=)
c.79C>G
c.74-10645C>G (n.74-10645C>G)
c.74-11537C>G (n.74-11537C>G)
ClinVar dbSNP gnomAD v4
10g.43100562C>TCA469490524RETc.177C>T (p.Ala59=)
c.79C>T
c.74-10645C>T (n.74-10645C>T)
c.74-11537C>T (n.74-11537C>T)
dbSNP
10g.43100563C>ACA16613047RETc.178C>A (p.Pro60Thr)
c.80C>A
c.74-10644C>A (n.74-10644C>A)
c.74-11536C>A (n.74-11536C>A)
ClinVar dbSNP
10g.43100563C=CA1905836801RETc.178C= (p.Pro60=)
c.80C=
c.74-10644C= (n.74-10644C=)
c.74-11536C= (n.74-11536C=)
10g.43100563C>GCA376770252RETc.178C>G (p.Pro60Ala)
c.80C>G
c.74-10644C>G (n.74-10644C>G)
c.74-11536C>G (n.74-11536C>G)
dbSNP
10g.43100563C>TCA035676RETc.178C>T (p.Pro60Ser)
c.80C>T
c.74-10644C>T (n.74-10644C>T)
c.74-11536C>T (n.74-11536C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100564C>ACA376770253RETc.179C>A (p.Pro60His)
c.81C>A
c.74-10643C>A (n.74-10643C>A)
c.74-11535C>A (n.74-11535C>A)
dbSNP
10g.43100564C=CA1905836802RETc.179C= (p.Pro60=)
c.81C=
c.74-10643C= (n.74-10643C=)
c.74-11535C= (n.74-11535C=)
10g.43100564C>GCA376770254RETc.179C>G (p.Pro60Arg)
c.81C>G
c.74-10643C>G (n.74-10643C>G)
c.74-11535C>G (n.74-11535C>G)
dbSNP
10g.43100564C>TCA376770255RETc.179C>T (p.Pro60Leu)
c.81C>T
c.74-10643C>T (n.74-10643C>T)
c.74-11535C>T (n.74-11535C>T)
ClinVar dbSNP gnomAD v4
10g.43100565delCA2695211967RETc.180del (p.Glu61ArgfsTer?)
c.82del
c.74-10642del (n.74-10642del)
c.74-11534del (n.74-11534del)
10g.43100565T>ACA469490536RETc.180T>A (p.Pro60=)
c.82T>A
c.74-10642T>A (n.74-10642T>A)
c.74-11534T>A (n.74-11534T>A)
10g.43100565T>CCA469490531RETc.180T>C (p.Pro60=)
c.82T>C
c.74-10642T>C (n.74-10642T>C)
c.74-11534T>C (n.74-11534T>C)
gnomAD v4
10g.43100565T>GCA469490533RETc.180T>G (p.Pro60=)
c.82T>G
c.74-10642T>G (n.74-10642T>G)
c.74-11534T>G (n.74-11534T>G)
ClinVar dbSNP
10g.43100566G>ACA376770256RETc.181G>A (p.Glu61Lys)
c.83G>A
c.74-10641G>A (n.74-10641G>A)
c.74-11533G>A (n.74-11533G>A)
ClinVar dbSNP
10g.43100566G>CCA376770257RETc.181G>C (p.Glu61Gln)
c.83G>C
c.74-10641G>C (n.74-10641G>C)
c.74-11533G>C (n.74-11533G>C)
dbSNP
10g.43100566G=CA1905836803RETc.181G= (p.Glu61=)
c.83G=
c.74-10641G= (n.74-10641G=)
c.74-11533G= (n.74-11533G=)
10g.43100566G>TCA376770258RETc.181G>T (p.Glu61Ter)
c.83G>T
c.74-10641G>T (n.74-10641G>T)
c.74-11533G>T (n.74-11533G>T)
dbSNP
10g.43100567A=CA1905836804RETc.182A= (p.Glu61=)
c.84A=
c.74-10640A= (n.74-10640A=)
c.74-11532A= (n.74-11532A=)
10g.43100567A>CCA376770261RETc.182A>C (p.Glu61Ala)
c.84A>C
c.74-10640A>C (n.74-10640A>C)
c.74-11532A>C (n.74-11532A>C)
ClinVar dbSNP
10g.43100567A>GCA376770260RETc.182A>G (p.Glu61Gly)
c.84A>G
c.74-10640A>G (n.74-10640A>G)
c.74-11532A>G (n.74-11532A>G)
10g.43100567A>TCA376770259RETc.182A>T (p.Glu61Val)
c.84A>T
c.74-10640A>T (n.74-10640A>T)
c.74-11532A>T (n.74-11532A>T)
dbSNP
10g.43100568G>ACA469490543RETc.183G>A (p.Glu61=)
c.85G>A
c.74-10639G>A (n.74-10639G>A)
c.74-11531G>A (n.74-11531G>A)
ClinVar dbSNP gnomAD v2
10g.43100568G>CCA16622049RETc.183G>C (p.Glu61Asp)
c.85G>C
c.74-10639G>C (n.74-10639G>C)
c.74-11531G>C (n.74-11531G>C)
ClinVar dbSNP gnomAD v4
10g.43100568G=CA1905836805RETc.183G= (p.Glu61=)
c.85G=
c.74-10639G= (n.74-10639G=)
c.74-11531G= (n.74-11531G=)
10g.43100568G>TCA376770262RETc.183G>T (p.Glu61Asp)
c.85G>T
c.74-10639G>T (n.74-10639G>T)
c.74-11531G>T (n.74-11531G>T)
dbSNP
10g.43100569G>ACA376770263RETc.184G>A (p.Glu62Lys)
c.86G>A
c.74-10638G>A (n.74-10638G>A)
c.74-11530G>A (n.74-11530G>A)
dbSNP COSMIC COSMIC
10g.43100569G>CCA376770264RETc.184G>C (p.Glu62Gln)
c.86G>C
c.74-10638G>C (n.74-10638G>C)
c.74-11530G>C (n.74-11530G>C)
dbSNP
10g.43100569G>TCA376770265RETc.184G>T (p.Glu62Ter)
c.86G>T
c.74-10638G>T (n.74-10638G>T)
c.74-11530G>T (n.74-11530G>T)
dbSNP
10g.43100570A>CCA376770266RETc.185A>C (p.Glu62Ala)
c.87A>C
c.74-10637A>C (n.74-10637A>C)
c.74-11529A>C (n.74-11529A>C)
10g.43100570A>GCA376770267RETc.185A>G (p.Glu62Gly)
c.87A>G
c.74-10637A>G (n.74-10637A>G)
c.74-11529A>G (n.74-11529A>G)
dbSNP
10g.43100570A>TCA376770268RETc.185A>T (p.Glu62Val)
c.87A>T
c.74-10637A>T (n.74-10637A>T)
c.74-11529A>T (n.74-11529A>T)
dbSNP
10g.43100571G>ACA469490547RETc.186G>A (p.Glu62=)
c.88G>A
c.74-10636G>A (n.74-10636G>A)
c.74-11528G>A (n.74-11528G>A)
ClinVar dbSNP gnomAD v4
10g.43100571G>CCA376770269RETc.186G>C (p.Glu62Asp)
c.88G>C
c.74-10636G>C (n.74-10636G>C)
c.74-11528G>C (n.74-11528G>C)
ClinVar dbSNP
10g.43100571G=CA1905836806RETc.186G= (p.Glu62=)
c.88G=
c.74-10636G= (n.74-10636G=)
c.74-11528G= (n.74-11528G=)
10g.43100571G>TCA376770270RETc.186G>T (p.Glu62Asp)
c.88G>T
c.74-10636G>T (n.74-10636G>T)
c.74-11528G>T (n.74-11528G>T)
10g.43100572G>ACA376770271RETc.187G>A (p.Val63Met)
c.89G>A
c.74-10635G>A (n.74-10635G>A)
c.74-11527G>A (n.74-11527G>A)
ClinVar dbSNP
10g.43100572G>CCA376770272RETc.187G>C (p.Val63Leu)
c.89G>C
c.74-10635G>C (n.74-10635G>C)
c.74-11527G>C (n.74-11527G>C)
dbSNP
10g.43100572G=CA1905836807RETc.187G= (p.Val63=)
c.89G=
c.74-10635G= (n.74-10635G=)
c.74-11527G= (n.74-11527G=)
10g.43100572G>TCA036079RETc.187G>T (p.Val63Leu)
c.89G>T
c.74-10635G>T (n.74-10635G>T)
c.74-11527G>T (n.74-11527G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100573T>ACA376770274RETc.188T>A (p.Val63Glu)
c.90T>A
c.74-10634T>A (n.74-10634T>A)
c.74-11526T>A (n.74-11526T>A)
dbSNP
10g.43100573T>CCA376770275RETc.188T>C (p.Val63Ala)
c.90T>C
c.74-10634T>C (n.74-10634T>C)
c.74-11526T>C (n.74-11526T>C)
dbSNP
10g.43100573T>GCA376770273RETc.188T>G (p.Val63Gly)
c.90T>G
c.74-10634T>G (n.74-10634T>G)
c.74-11526T>G (n.74-11526T>G)
dbSNP
10g.43100574G>ACA036415RETc.189G>A (p.Val63=)
c.91G>A
c.74-10633G>A (n.74-10633G>A)
c.74-11525G>A (n.74-11525G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100574G>CCA469490556RETc.189G>C (p.Val63=)
c.91G>C
c.74-10633G>C (n.74-10633G>C)
c.74-11525G>C (n.74-11525G>C)
10g.43100574G=CA1905836808RETc.189G= (p.Val63=)
c.91G=
c.74-10633G= (n.74-10633G=)
c.74-11525G= (n.74-11525G=)
10g.43100574G>TCA469490555RETc.189G>T (p.Val63=)
c.91G>T
c.74-10633G>T (n.74-10633G>T)
c.74-11525G>T (n.74-11525G>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100575C>ACA376770276RETc.190C>A (p.Pro64Thr)
c.92C>A
c.74-10632C>A (n.74-10632C>A)
c.74-11524C>A (n.74-11524C>A)
dbSNP
10g.43100575C>GCA376770277RETc.190C>G (p.Pro64Ala)
c.92C>G
c.74-10632C>G (n.74-10632C>G)
c.74-11524C>G (n.74-11524C>G)
dbSNP
10g.43100575C>TCA376770278RETc.190C>T (p.Pro64Ser)
c.92C>T
c.74-10632C>T (n.74-10632C>T)
c.74-11524C>T (n.74-11524C>T)
ClinVar dbSNP
10g.43100576C>ACA376770279RETc.191C>A (p.Pro64His)
c.93C>A
c.74-10631C>A (n.74-10631C>A)
c.74-11523C>A (n.74-11523C>A)
dbSNP
10g.43100576C=CA1905836809RETc.191C= (p.Pro64=)
c.93C=
c.74-10631C= (n.74-10631C=)
c.74-11523C= (n.74-11523C=)
10g.43100576C>GCA376770280RETc.191C>G (p.Pro64Arg)
c.93C>G
c.74-10631C>G (n.74-10631C>G)
c.74-11523C>G (n.74-11523C>G)
dbSNP
10g.43100576C>TCA008426RETc.191C>T (p.Pro64Leu)
c.93C>T
c.74-10631C>T (n.74-10631C>T)
c.74-11523C>T (n.74-11523C>T)
ClinVar dbSNP
10g.43100577C>ACA469490559RETc.192C>A (p.Pro64=)
c.94C>A
c.74-10630C>A (n.74-10630C>A)
c.74-11522C>A (n.74-11522C>A)
dbSNP
10g.43100577C=CA1905836810RETc.192C= (p.Pro64=)
c.94C=
c.74-10630C= (n.74-10630C=)
c.74-11522C= (n.74-11522C=)
10g.43100577C>GCA469490562RETc.192C>G (p.Pro64=)
c.94C>G
c.74-10630C>G (n.74-10630C>G)
c.74-11522C>G (n.74-11522C>G)
dbSNP
10g.43100577C>TCA469490564RETc.192C>T (p.Pro64=)
c.94C>T
c.74-10630C>T (n.74-10630C>T)
c.74-11522C>T (n.74-11522C>T)
ClinVar dbSNP gnomAD v4
10g.43100578A=CA1905836811RETc.193A= (p.Ser65=)
c.95A=
c.74-10629A= (n.74-10629A=)
c.74-11521A= (n.74-11521A=)
10g.43100578A>CCA376770281RETc.193A>C (p.Ser65Arg)
c.95A>C
c.74-10629A>C (n.74-10629A>C)
c.74-11521A>C (n.74-11521A>C)
dbSNP
10g.43100578A>GCA376770282RETc.193A>G (p.Ser65Gly)
c.95A>G
c.74-10629A>G (n.74-10629A>G)
c.74-11521A>G (n.74-11521A>G)
ClinVar dbSNP
10g.43100578A>TCA376770283RETc.193A>T (p.Ser65Cys)
c.95A>T
c.74-10629A>T (n.74-10629A>T)
c.74-11521A>T (n.74-11521A>T)
ClinVar dbSNP
10g.43100579G>ACA376770284RETc.194G>A (p.Ser65Asn)
c.96G>A
c.74-10628G>A (n.74-10628G>A)
c.74-11520G>A (n.74-11520G>A)
dbSNP
10g.43100579G>CCA376770285RETc.194G>C (p.Ser65Thr)
c.96G>C
c.74-10628G>C (n.74-10628G>C)
c.74-11520G>C (n.74-11520G>C)
dbSNP
10g.43100579G>TCA376770286RETc.194G>T (p.Ser65Ile)
c.96G>T
c.74-10628G>T (n.74-10628G>T)
c.74-11520G>T (n.74-11520G>T)
gnomAD v4
10g.43100580C>ACA376770287RETc.195C>A (p.Ser65Arg)
c.97C>A
c.74-10627C>A (n.74-10627C>A)
c.74-11519C>A (n.74-11519C>A)
dbSNP
10g.43100580C>GCA376770288RETc.195C>G (p.Ser65Arg)
c.97C>G
c.74-10627C>G (n.74-10627C>G)
c.74-11519C>G (n.74-11519C>G)
dbSNP
10g.43100580C>TCA469490570RETc.195C>T (p.Ser65=)
c.97C>T
c.74-10627C>T (n.74-10627C>T)
c.74-11519C>T (n.74-11519C>T)
ClinVar
10g.43100581T>ACA376770289RETc.196T>A (p.Phe66Ile)
c.98T>A
c.74-10626T>A (n.74-10626T>A)
c.74-11518T>A (n.74-11518T>A)
dbSNP
10g.43100581T>CCA376770290RETc.196T>C (p.Phe66Leu)
c.98T>C
c.74-10626T>C (n.74-10626T>C)
c.74-11518T>C (n.74-11518T>C)
dbSNP
10g.43100581T>GCA376770291RETc.196T>G (p.Phe66Val)
c.98T>G
c.74-10626T>G (n.74-10626T>G)
c.74-11518T>G (n.74-11518T>G)
10g.43100582T>ACA376770292RETc.197T>A (p.Phe66Tyr)
c.99T>A
c.74-10625T>A (n.74-10625T>A)
c.74-11517T>A (n.74-11517T>A)
dbSNP
10g.43100582T>CCA376770293RETc.197T>C (p.Phe66Ser)
c.99T>C
c.74-10625T>C (n.74-10625T>C)
c.74-11517T>C (n.74-11517T>C)
dbSNP
10g.43100582T>GCA376770294RETc.197T>G (p.Phe66Cys)
c.99T>G
c.74-10625T>G (n.74-10625T>G)
c.74-11517T>G (n.74-11517T>G)
10g.43100582_43100584dupCA2695211968RETc.197_199dup (p.Phe66_Arg67insLeu)
c.99_101dup
c.74-10625_74-10623dup (n.74-10625_74-10623dup)
c.74-11517_74-11515dup (n.74-11517_74-11515dup)
10g.43100583C>ACA376770295RETc.198C>A (p.Phe66Leu)
c.100C>A
c.74-10624C>A (n.74-10624C>A)
c.74-11516C>A (n.74-11516C>A)
10g.43100583C>GCA376770296RETc.198C>G (p.Phe66Leu)
c.100C>G
c.74-10624C>G (n.74-10624C>G)
c.74-11516C>G (n.74-11516C>G)
dbSNP
10g.43100583C>TCA469490576RETc.198C>T (p.Phe66=)
c.100C>T
c.74-10624C>T (n.74-10624C>T)
c.74-11516C>T (n.74-11516C>T)
10g.43100584C>ACA376770297RETc.199C>A (p.Arg67Ser)
c.101C>A
c.74-10623C>A (n.74-10623C>A)
c.74-11515C>A (n.74-11515C>A)
dbSNP
10g.43100584C=CA1905836812RETc.199C= (p.Arg67=)
c.101C=
c.74-10623C= (n.74-10623C=)
c.74-11515C= (n.74-11515C=)
10g.43100584C>GCA376770298RETc.199C>G (p.Arg67Gly)
c.101C>G
c.74-10623C>G (n.74-10623C>G)
c.74-11515C>G (n.74-11515C>G)
ClinVar dbSNP
10g.43100584C>TCA036802RETc.199C>T (p.Arg67Cys)
c.101C>T
c.74-10623C>T (n.74-10623C>T)
c.74-11515C>T (n.74-11515C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100585G>ACA008548RETc.200G>A (p.Arg67His)
c.102G>A
c.74-10622G>A (n.74-10622G>A)
c.74-11514G>A (n.74-11514G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.[43100585G>A;43106382G>A;43124887C>T]CA658832921RETc.[200G>A;867+1189G>A;2548C>T] (p.[Arg67His;Arg850Cys])
c.[200G>A;874G>A;2944C>T] (p.[Arg67His;Val292Met;Arg982Cys])
c.[200G>A;625+3753G>A;*1538C>T] ([p.Arg67His;n.625+3753G>A])
c.[74-10622G>A;74-4825G>A;*1538C>T] (n.[74-10622G>A;74-4825G>A;*1538C>T])
c.[200G>A;874G>A;*293C>T] ([p.Arg67His;p.Val292Met;n.*293C>T])
10g.43100585G>CCA376770300RETc.200G>C (p.Arg67Pro)
c.102G>C
c.74-10622G>C (n.74-10622G>C)
c.74-11514G>C (n.74-11514G>C)
10g.43100585G=CA1905836813RETc.200G= (p.Arg67=)
c.102G=
c.74-10622G= (n.74-10622G=)
c.74-11514G= (n.74-11514G=)
10g.43100585G>TCA376770299RETc.200G>T (p.Arg67Leu)
c.102G>T
c.74-10622G>T (n.74-10622G>T)
c.74-11514G>T (n.74-11514G>T)
dbSNP gnomAD v2 gnomAD v4
10g.43100586C>ACA036938RETc.201C>A (p.Arg67=)
c.103C>A
c.74-10621C>A (n.74-10621C>A)
c.74-11513C>A (n.74-11513C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100586C=CA1905836814RETc.201C= (p.Arg67=)
c.103C=
c.74-10621C= (n.74-10621C=)
c.74-11513C= (n.74-11513C=)
10g.43100586C>GCA469490579RETc.201C>G (p.Arg67=)
c.103C>G
c.74-10621C>G (n.74-10621C>G)
c.74-11513C>G (n.74-11513C>G)
dbSNP
10g.43100586C>TCA036950RETc.201C>T (p.Arg67=)
c.103C>T
c.74-10621C>T (n.74-10621C>T)
c.74-11513C>T (n.74-11513C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100587C>ACA376770301RETc.202C>A (p.Leu68Met)
c.104C>A
c.74-10620C>A (n.74-10620C>A)
c.74-11512C>A (n.74-11512C>A)
ClinVar dbSNP
10g.43100587C=CA1905836815RETc.202C= (p.Leu68=)
c.104C=
c.74-10620C= (n.74-10620C=)
c.74-11512C= (n.74-11512C=)
10g.43100587C>GCA376770302RETc.202C>G (p.Leu68Val)
c.104C>G
c.74-10620C>G (n.74-10620C>G)
c.74-11512C>G (n.74-11512C>G)
dbSNP
10g.43100587C>TCA469490581RETc.202C>T (p.Leu68=)
c.104C>T
c.74-10620C>T (n.74-10620C>T)
c.74-11512C>T (n.74-11512C>T)
ClinVar dbSNP gnomAD v4
10g.43100588T>ACA376770303RETc.203T>A (p.Leu68Gln)
c.105T>A
c.74-10619T>A (n.74-10619T>A)
c.74-11511T>A (n.74-11511T>A)
ClinVar
10g.43100588T>CCA376770304RETc.203T>C (p.Leu68Pro)
c.105T>C
c.74-10619T>C (n.74-10619T>C)
c.74-11511T>C (n.74-11511T>C)
10g.43100588T>GCA376770305RETc.203T>G (p.Leu68Arg)
c.105T>G
c.74-10619T>G (n.74-10619T>G)
c.74-11511T>G (n.74-11511T>G)
10g.43100589G>ACA037034RETc.204G>A (p.Leu68=)
c.106G>A
c.74-10618G>A (n.74-10618G>A)
c.74-11510G>A (n.74-11510G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100589G>CCA469490586RETc.204G>C (p.Leu68=)
c.106G>C
c.74-10618G>C (n.74-10618G>C)
c.74-11510G>C (n.74-11510G>C)
ClinVar dbSNP
10g.43100589G=CA1905836816RETc.204G= (p.Leu68=)
c.106G=
c.74-10618G= (n.74-10618G=)
c.74-11510G= (n.74-11510G=)
10g.43100589G>TCA037054RETc.204G>T (p.Leu68=)
c.106G>T
c.74-10618G>T (n.74-10618G>T)
c.74-11510G>T (n.74-11510G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100591delCA2721859111RETc.206del (p.Gly69AlafsTer?)
c.108del
c.74-10616del (n.74-10616del)
c.74-11508del (n.74-11508del)
dbSNP
10g.43100590G>ACA376770306RETc.205G>A (p.Gly69Ser)
c.107G>A
c.74-10617G>A (n.74-10617G>A)
c.74-11509G>A (n.74-11509G>A)
ClinVar dbSNP
10g.43100590G>CCA376770307RETc.205G>C (p.Gly69Arg)
c.107G>C
c.74-10617G>C (n.74-10617G>C)
c.74-11509G>C (n.74-11509G>C)
dbSNP
10g.43100590G>TCA376770308RETc.205G>T (p.Gly69Cys)
c.107G>T
c.74-10617G>T (n.74-10617G>T)
c.74-11509G>T (n.74-11509G>T)
10g.43100591G>ACA376770309RETc.206G>A (p.Gly69Asp)
c.108G>A
c.74-10616G>A (n.74-10616G>A)
c.74-11508G>A (n.74-11508G>A)
ClinVar dbSNP COSMIC COSMIC
10g.43100591G>CCA376770310RETc.206G>C (p.Gly69Ala)
c.108G>C
c.74-10616G>C (n.74-10616G>C)
c.74-11508G>C (n.74-11508G>C)
10g.43100591G>TCA376770311RETc.206G>T (p.Gly69Val)
c.108G>T
c.74-10616G>T (n.74-10616G>T)
c.74-11508G>T (n.74-11508G>T)
10g.43100592C>ACA469490595RETc.207C>A (p.Gly69=)
c.109C>A
c.74-10615C>A (n.74-10615C>A)
c.74-11507C>A (n.74-11507C>A)
dbSNP
10g.43100592C>GCA469490597RETc.207C>G (p.Gly69=)
c.109C>G
c.74-10615C>G (n.74-10615C>G)
c.74-11507C>G (n.74-11507C>G)
10g.43100592C>TCA469490599RETc.207C>T (p.Gly69=)
c.109C>T
c.74-10615C>T (n.74-10615C>T)
c.74-11507C>T (n.74-11507C>T)
10g.43100593C>ACA376770312RETc.208C>A (p.Gln70Lys)
c.110C>A
c.74-10614C>A (n.74-10614C>A)
c.74-11506C>A (n.74-11506C>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100593C=CA1905836817RETc.208C= (p.Gln70=)
c.110C=
c.74-10614C= (n.74-10614C=)
c.74-11506C= (n.74-11506C=)
10g.43100593C>GCA376770314RETc.208C>G (p.Gln70Glu)
c.110C>G
c.74-10614C>G (n.74-10614C>G)
c.74-11506C>G (n.74-11506C>G)
10g.43100593C>TCA376770313RETc.208C>T (p.Gln70Ter)
c.110C>T
c.74-10614C>T (n.74-10614C>T)
c.74-11506C>T (n.74-11506C>T)
ClinVar
10g.43100594A=CA1905836818RETc.209A= (p.Gln70=)
c.111A=
c.74-10613A= (n.74-10613A=)
c.74-11505A= (n.74-11505A=)
10g.43100594A>CCA376770315RETc.209A>C (p.Gln70Pro)
c.111A>C
c.74-10613A>C (n.74-10613A>C)
c.74-11505A>C (n.74-11505A>C)
10g.43100594A>GCA376770316RETc.209A>G (p.Gln70Arg)
c.111A>G
c.74-10613A>G (n.74-10613A>G)
c.74-11505A>G (n.74-11505A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100594A>TCA376770317RETc.209A>T (p.Gln70Leu)
c.111A>T
c.74-10613A>T (n.74-10613A>T)
c.74-11505A>T (n.74-11505A>T)
dbSNP
10g.43100595G>ACA469490605RETc.210G>A (p.Gln70=)
c.112G>A
c.74-10612G>A (n.74-10612G>A)
c.74-11504G>A (n.74-11504G>A)
dbSNP
10g.43100595G>CCA376770318RETc.210G>C (p.Gln70His)
c.112G>C
c.74-10612G>C (n.74-10612G>C)
c.74-11504G>C (n.74-11504G>C)
dbSNP
10g.43100595G>TCA376770319RETc.210G>T (p.Gln70His)
c.112G>T
c.74-10612G>T (n.74-10612G>T)
c.74-11504G>T (n.74-11504G>T)
dbSNP
10g.43100596C>ACA376770320RETc.211C>A (p.His71Asn)
c.113C>A
c.74-10611C>A (n.74-10611C>A)
c.74-11503C>A (n.74-11503C>A)
dbSNP
10g.43100596C>GCA376770321RETc.211C>G (p.His71Asp)
c.113C>G
c.74-10611C>G (n.74-10611C>G)
c.74-11503C>G (n.74-11503C>G)
dbSNP
10g.43100596C>TCA376770322RETc.211C>T (p.His71Tyr)
c.113C>T
c.74-10611C>T (n.74-10611C>T)
c.74-11503C>T (n.74-11503C>T)
dbSNP
10g.43100597A=CA1905836819RETc.212A= (p.His71=)
c.114A=
c.74-10610A= (n.74-10610A=)
c.74-11502A= (n.74-11502A=)
10g.43100597A>CCA376770323RETc.212A>C (p.His71Pro)
c.114A>C
c.74-10610A>C (n.74-10610A>C)
c.74-11502A>C (n.74-11502A>C)
10g.43100597A>GCA376770324RETc.212A>G (p.His71Arg)
c.114A>G
c.74-10610A>G (n.74-10610A>G)
c.74-11502A>G (n.74-11502A>G)
ClinVar dbSNP
10g.43100597A>TCA376770325RETc.212A>T (p.His71Leu)
c.114A>T
c.74-10610A>T (n.74-10610A>T)
c.74-11502A>T (n.74-11502A>T)
gnomAD v4
10g.43100598T>ACA376770327RETc.213T>A (p.His71Gln)
c.115T>A
c.74-10609T>A (n.74-10609T>A)
c.74-11501T>A (n.74-11501T>A)
dbSNP
10g.43100598T>CCA469490613RETc.213T>C (p.His71=)
c.115T>C
c.74-10609T>C (n.74-10609T>C)
c.74-11501T>C (n.74-11501T>C)
10g.43100598T>GCA376770326RETc.213T>G (p.His71Gln)
c.115T>G
c.74-10609T>G (n.74-10609T>G)
c.74-11501T>G (n.74-11501T>G)
10g.43100599C>ACA376770328RETc.214C>A (p.Leu72Ile)
c.116C>A
c.74-10608C>A (n.74-10608C>A)
c.74-11500C>A (n.74-11500C>A)
10g.43100599C>GCA376770329RETc.214C>G (p.Leu72Val)
c.116C>G
c.74-10608C>G (n.74-10608C>G)
c.74-11500C>G (n.74-11500C>G)
10g.43100599C>TCA376770330RETc.214C>T (p.Leu72Phe)
c.116C>T
c.74-10608C>T (n.74-10608C>T)
c.74-11500C>T (n.74-11500C>T)
ClinVar
10g.43100600T>ACA376770331RETc.215T>A (p.Leu72His)
c.117T>A
c.74-10607T>A (n.74-10607T>A)
c.74-11499T>A (n.74-11499T>A)
dbSNP
10g.43100600T>CCA376770332RETc.215T>C (p.Leu72Pro)
c.117T>C
c.74-10607T>C (n.74-10607T>C)
c.74-11499T>C (n.74-11499T>C)
dbSNP
10g.43100600T>GCA376770333RETc.215T>G (p.Leu72Arg)
c.117T>G
c.74-10607T>G (n.74-10607T>G)
c.74-11499T>G (n.74-11499T>G)
10g.43100601C>ACA469490620RETc.216C>A (p.Leu72=)
c.118C>A
c.74-10606C>A (n.74-10606C>A)
c.74-11498C>A (n.74-11498C>A)
dbSNP
10g.43100601C>GCA469490618RETc.216C>G (p.Leu72=)
c.118C>G
c.74-10606C>G (n.74-10606C>G)
c.74-11498C>G (n.74-11498C>G)
dbSNP
10g.43100601C>TCA469490619RETc.216C>T (p.Leu72=)
c.118C>T
c.74-10606C>T (n.74-10606C>T)
c.74-11498C>T (n.74-11498C>T)
dbSNP
10g.43100602T>ACA376770334RETc.217T>A (p.Tyr73Asn)
c.119T>A
c.74-10605T>A (n.74-10605T>A)
c.74-11497T>A (n.74-11497T>A)
dbSNP
10g.43100602T>CCA376770335RETc.217T>C (p.Tyr73His)
c.119T>C
c.74-10605T>C (n.74-10605T>C)
c.74-11497T>C (n.74-11497T>C)
dbSNP
10g.43100602T>GCA376770336RETc.217T>G (p.Tyr73Asp)
c.119T>G
c.74-10605T>G (n.74-10605T>G)
c.74-11497T>G (n.74-11497T>G)
10g.43100603A>CCA376770337RETc.218A>C (p.Tyr73Ser)
c.120A>C
c.74-10604A>C (n.74-10604A>C)
c.74-11496A>C (n.74-11496A>C)
dbSNP
10g.43100603A>GCA376770338RETc.218A>G (p.Tyr73Cys)
c.120A>G
c.74-10604A>G (n.74-10604A>G)
c.74-11496A>G (n.74-11496A>G)
10g.43100603A>TCA376770339RETc.218A>T (p.Tyr73Phe)
c.120A>T
c.74-10604A>T (n.74-10604A>T)
c.74-11496A>T (n.74-11496A>T)
10g.43100604C>ACA376770340RETc.219C>A (p.Tyr73Ter)
c.121C>A
c.74-10603C>A (n.74-10603C>A)
c.74-11495C>A (n.74-11495C>A)
dbSNP
10g.43100604C=CA1905836820RETc.219C= (p.Tyr73=)
c.121C=
c.74-10603C= (n.74-10603C=)
c.74-11495C= (n.74-11495C=)
10g.43100604C>GCA376770341RETc.219C>G (p.Tyr73Ter)
c.121C>G
c.74-10603C>G (n.74-10603C>G)
c.74-11495C>G (n.74-11495C>G)
dbSNP
10g.43100604C>TCA037767RETc.219C>T (p.Tyr73=)
c.121C>T
c.74-10603C>T (n.74-10603C>T)
c.74-11495C>T (n.74-11495C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.43100605G>ACA037807RETc.220G>A (p.Gly74Ser)
c.122G>A
c.74-10602G>A (n.74-10602G>A)
c.74-11494G>A (n.74-11494G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100605G>CCA376770342RETc.220G>C (p.Gly74Arg)
c.122G>C
c.74-10602G>C (n.74-10602G>C)
c.74-11494G>C (n.74-11494G>C)
dbSNP
10g.43100605G=CA1905836821RETc.220G= (p.Gly74=)
c.122G=
c.74-10602G= (n.74-10602G=)
c.74-11494G= (n.74-11494G=)
10g.43100605G>TCA376770343RETc.220G>T (p.Gly74Cys)
c.122G>T
c.74-10602G>T (n.74-10602G>T)
c.74-11494G>T (n.74-11494G>T)
10g.43100606G>ACA376770344RETc.221G>A (p.Gly74Asp)
c.123G>A
c.74-10601G>A (n.74-10601G>A)
c.74-11493G>A (n.74-11493G>A)
dbSNP
10g.43100606G>CCA376770345RETc.221G>C (p.Gly74Ala)
c.123G>C
c.74-10601G>C (n.74-10601G>C)
c.74-11493G>C (n.74-11493G>C)
dbSNP
10g.43100606G>TCA376770346RETc.221G>T (p.Gly74Val)
c.123G>T
c.74-10601G>T (n.74-10601G>T)
c.74-11493G>T (n.74-11493G>T)
dbSNP
10g.43100607C>ACA469490633RETc.222C>A (p.Gly74=)
c.124C>A
c.74-10600C>A (n.74-10600C>A)
c.74-11492C>A (n.74-11492C>A)
10g.43100607C>GCA469490634RETc.222C>G (p.Gly74=)
c.124C>G
c.74-10600C>G (n.74-10600C>G)
c.74-11492C>G (n.74-11492C>G)
dbSNP
10g.43100607C>TCA469490635RETc.222C>T (p.Gly74=)
c.124C>T
c.74-10600C>T (n.74-10600C>T)
c.74-11492C>T (n.74-11492C>T)
dbSNP
10g.43100608A=CA1905836822RETc.223A= (p.Thr75=)
c.125A=
c.74-10599A= (n.74-10599A=)
c.74-11491A= (n.74-11491A=)
10g.43100608A>CCA376770347RETc.223A>C (p.Thr75Pro)
c.125A>C
c.74-10599A>C (n.74-10599A>C)
c.74-11491A>C (n.74-11491A>C)
dbSNP
10g.43100608A>GCA376770349RETc.223A>G (p.Thr75Ala)
c.125A>G
c.74-10599A>G (n.74-10599A>G)
c.74-11491A>G (n.74-11491A>G)
dbSNP
10g.43100608A>TCA376770348RETc.223A>T (p.Thr75Ser)
c.125A>T
c.74-10599A>T (n.74-10599A>T)
c.74-11491A>T (n.74-11491A>T)
dbSNP
10g.43100609C>ACA376770350RETc.224C>A (p.Thr75Lys)
c.126C>A
c.74-10598C>A (n.74-10598C>A)
c.74-11490C>A (n.74-11490C>A)
dbSNP
10g.43100609C=CA1905836823RETc.224C= (p.Thr75=)
c.126C=
c.74-10598C= (n.74-10598C=)
c.74-11490C= (n.74-11490C=)
10g.43100609C>GCA376770351RETc.224C>G (p.Thr75Arg)
c.126C>G
c.74-10598C>G (n.74-10598C>G)
c.74-11490C>G (n.74-11490C>G)
dbSNP
10g.43100609C>TCA038004RETc.224C>T (p.Thr75Met)
c.126C>T
c.74-10598C>T (n.74-10598C>T)
c.74-11490C>T (n.74-11490C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100610G>ACA008616RETc.225G>A (p.Thr75=)
c.127G>A
c.74-10597G>A (n.74-10597G>A)
c.74-11489G>A (n.74-11489G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100610G>CCA469490642RETc.225G>C (p.Thr75=)
c.127G>C
c.74-10597G>C (n.74-10597G>C)
c.74-11489G>C (n.74-11489G>C)
dbSNP
10g.43100610G=CA1905836824RETc.225G= (p.Thr75=)
c.127G=
c.74-10597G= (n.74-10597G=)
c.74-11489G= (n.74-11489G=)
10g.43100610G>TCA469490641RETc.225G>T (p.Thr75=)
c.127G>T
c.74-10597G>T (n.74-10597G>T)
c.74-11489G>T (n.74-11489G>T)
ClinVar dbSNP
10g.43100611T>ACA376770354RETc.226T>A (p.Tyr76Asn)
c.128T>A
c.74-10596T>A (n.74-10596T>A)
c.74-11488T>A (n.74-11488T>A)
10g.43100611T>CCA376770353RETc.226T>C (p.Tyr76His)
c.128T>C
c.74-10596T>C (n.74-10596T>C)
c.74-11488T>C (n.74-11488T>C)
10g.43100611T>GCA376770352RETc.226T>G (p.Tyr76Asp)
c.128T>G
c.74-10596T>G (n.74-10596T>G)
c.74-11488T>G (n.74-11488T>G)
gnomAD v4
10g.43100612A>CCA376770355RETc.227A>C (p.Tyr76Ser)
c.129A>C
c.74-10595A>C (n.74-10595A>C)
c.74-11487A>C (n.74-11487A>C)
dbSNP
10g.43100612A>GCA376770357RETc.227A>G (p.Tyr76Cys)
c.129A>G
c.74-10595A>G (n.74-10595A>G)
c.74-11487A>G (n.74-11487A>G)
10g.43100612A>TCA376770356RETc.227A>T (p.Tyr76Phe)
c.129A>T
c.74-10595A>T (n.74-10595A>T)
c.74-11487A>T (n.74-11487A>T)
dbSNP
10g.43100613C>ACA376770358RETc.228C>A (p.Tyr76Ter)
c.130C>A
c.74-10594C>A (n.74-10594C>A)
c.74-11486C>A (n.74-11486C>A)
dbSNP
10g.43100613C>GCA376770359RETc.228C>G (p.Tyr76Ter)
c.130C>G
c.74-10594C>G (n.74-10594C>G)
c.74-11486C>G (n.74-11486C>G)
dbSNP
10g.43100613C>TCA469490649RETc.228C>T (p.Tyr76=)
c.130C>T
c.74-10594C>T (n.74-10594C>T)
c.74-11486C>T (n.74-11486C>T)
dbSNP
10g.43100614C>ACA376770360RETc.229C>A (p.Arg77Ser)
c.131C>A
c.74-10593C>A (n.74-10593C>A)
c.74-11485C>A (n.74-11485C>A)
ClinVar dbSNP gnomAD v4
10g.43100614C=CA1905836825RETc.229C= (p.Arg77=)
c.131C=
c.74-10593C= (n.74-10593C=)
c.74-11485C= (n.74-11485C=)
10g.43100614C>GCA376770361RETc.229C>G (p.Arg77Gly)
c.131C>G
c.74-10593C>G (n.74-10593C>G)
c.74-11485C>G (n.74-11485C>G)
ClinVar dbSNP
10g.43100614C>TCA376770362RETc.229C>T (p.Arg77Cys)
c.131C>T
c.74-10593C>T (n.74-10593C>T)
c.74-11485C>T (n.74-11485C>T)
ClinVar dbSNP COSMIC COSMIC
10g.43100615G>ACA038543RETc.230G>A (p.Arg77His)
c.132G>A
c.74-10592G>A (n.74-10592G>A)
c.74-11484G>A (n.74-11484G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.43100615G>CCA376770363RETc.230G>C (p.Arg77Pro)
c.132G>C
c.74-10592G>C (n.74-10592G>C)
c.74-11484G>C (n.74-11484G>C)
dbSNP
10g.43100615G=CA1905836826RETc.230G= (p.Arg77=)
c.132G=
c.74-10592G= (n.74-10592G=)
c.74-11484G= (n.74-11484G=)
10g.43100615G>TCA376770364RETc.230G>T (p.Arg77Leu)
c.132G>T
c.74-10592G>T (n.74-10592G>T)
c.74-11484G>T (n.74-11484G>T)
dbSNP COSMIC COSMIC
10g.43100616C>ACA206713121RETc.231C>A (p.Arg77=)
c.133C>A
c.74-10591C>A (n.74-10591C>A)
c.74-11483C>A (n.74-11483C>A)
dbSNP
10g.43100616C=CA1905836827RETc.231C= (p.Arg77=)
c.133C=
c.74-10591C= (n.74-10591C=)
c.74-11483C= (n.74-11483C=)
10g.43100616C>GCA469490655RETc.231C>G (p.Arg77=)
c.133C>G
c.74-10591C>G (n.74-10591C>G)
c.74-11483C>G (n.74-11483C>G)
dbSNP
10g.43100616C>TCA469490656RETc.231C>T (p.Arg77=)
c.133C>T
c.74-10591C>T (n.74-10591C>T)
c.74-11483C>T (n.74-11483C>T)
ClinVar dbSNP
10g.43100617A>CCA376770365RETc.232A>C (p.Thr78Pro)
c.134A>C
c.74-10590A>C (n.74-10590A>C)
c.74-11482A>C (n.74-11482A>C)
ClinVar dbSNP
10g.43100617A>GCA376770366RETc.232A>G (p.Thr78Ala)
c.134A>G
c.74-10590A>G (n.74-10590A>G)
c.74-11482A>G (n.74-11482A>G)
10g.43100617A>TCA376770367RETc.232A>T (p.Thr78Ser)
c.134A>T
c.74-10590A>T (n.74-10590A>T)
c.74-11482A>T (n.74-11482A>T)
dbSNP
10g.43100618C>ACA376770368RETc.233C>A (p.Thr78Lys)
c.135C>A
c.74-10589C>A (n.74-10589C>A)
c.74-11481C>A (n.74-11481C>A)
dbSNP
10g.43100618C>GCA376770369RETc.233C>G (p.Thr78Arg)
c.135C>G
c.74-10589C>G (n.74-10589C>G)
c.74-11481C>G (n.74-11481C>G)
dbSNP
10g.43100618C>TCA376770370RETc.233C>T (p.Thr78Ile)
c.135C>T
c.74-10589C>T (n.74-10589C>T)
c.74-11481C>T (n.74-11481C>T)
dbSNP
10g.43100619A>CCA469490664RETc.234A>C (p.Thr78=)
c.136A>C
c.74-10588A>C (n.74-10588A>C)
c.74-11480A>C (n.74-11480A>C)
dbSNP
10g.43100619A>GCA469490665RETc.234A>G (p.Thr78=)
c.136A>G
c.74-10588A>G (n.74-10588A>G)
c.74-11480A>G (n.74-11480A>G)
dbSNP
10g.43100619A>TCA469490666RETc.234A>T (p.Thr78=)
c.136A>T
c.74-10588A>T (n.74-10588A>T)
c.74-11480A>T (n.74-11480A>T)
dbSNP
10g.43100620C>ACA469490667RETc.235C>A (p.Arg79=)
c.137C>A
c.74-10587C>A (n.74-10587C>A)
c.74-11479C>A (n.74-11479C>A)
ClinVar dbSNP
10g.43100620C=CA1905836828RETc.235C= (p.Arg79=)
c.137C=
c.74-10587C= (n.74-10587C=)
c.74-11479C= (n.74-11479C=)
10g.43100620C>GCA376770371RETc.235C>G (p.Arg79Gly)
c.137C>G
c.74-10587C>G (n.74-10587C>G)
c.74-11479C>G (n.74-11479C>G)
dbSNP
10g.43100620C>TCA038673RETc.235C>T (p.Arg79Trp)
c.137C>T
c.74-10587C>T (n.74-10587C>T)
c.74-11479C>T (n.74-11479C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100621_43100623dupCA2608894272RETc.236_238dup (p.Arg79_Leu80insArg)
c.138_140dup
c.74-10586_74-10584dup (n.74-10586_74-10584dup)
c.74-11478_74-11476dup (n.74-11478_74-11476dup)
gnomAD v4
10g.43100621G>ACA376770372RETc.236G>A (p.Arg79Gln)
c.138G>A
c.74-10586G>A (n.74-10586G>A)
c.74-11478G>A (n.74-11478G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43100621G>CCA376770373RETc.236G>C (p.Arg79Pro)
c.138G>C
c.74-10586G>C (n.74-10586G>C)
c.74-11478G>C (n.74-11478G>C)
dbSNP
10g.43100621G=CA1905836829RETc.236G= (p.Arg79=)
c.138G=
c.74-10586G= (n.74-10586G=)
c.74-11478G= (n.74-11478G=)
10g.43100621G>TCA376770374RETc.236G>T (p.Arg79Leu)
c.138G>T
c.74-10586G>T (n.74-10586G>T)
c.74-11478G>T (n.74-11478G>T)
dbSNP
10g.43100622G>ACA469490671RETc.237G>A (p.Arg79=)
c.139G>A
c.74-10585G>A (n.74-10585G>A)
c.74-11477G>A (n.74-11477G>A)
dbSNP
10g.43100622G>CCA469490673RETc.237G>C (p.Arg79=)
c.139G>C
c.74-10585G>C (n.74-10585G>C)
c.74-11477G>C (n.74-11477G>C)
dbSNP
10g.43100622G=CA1905836830RETc.237G= (p.Arg79=)
c.139G=
c.74-10585G= (n.74-10585G=)
c.74-11477G= (n.74-11477G=)
10g.43100622G>TCA469490672RETc.237G>T (p.Arg79=)
c.139G>T
c.74-10585G>T (n.74-10585G>T)
c.74-11477G>T (n.74-11477G>T)
ClinVar dbSNP gnomAD v4
10g.43100623C>ACA376770375RETc.238C>A (p.Leu80Met)
c.140C>A
c.74-10584C>A (n.74-10584C>A)
c.74-11476C>A (n.74-11476C>A)
dbSNP
10g.43100623C=CA1905836831RETc.238C= (p.Leu80=)
c.140C=
c.74-10584C= (n.74-10584C=)
c.74-11476C= (n.74-11476C=)
10g.43100623C>GCA376770376RETc.238C>G (p.Leu80Val)
c.140C>G
c.74-10584C>G (n.74-10584C>G)
c.74-11476C>G (n.74-11476C>G)
dbSNP
10g.43100623C>TCA469490675RETc.238C>T (p.Leu80=)
c.140C>T
c.74-10584C>T (n.74-10584C>T)
c.74-11476C>T (n.74-11476C>T)
ClinVar dbSNP
10g.43100624T>ACA376770377RETc.239T>A (p.Leu80Gln)
c.141T>A
c.74-10583T>A (n.74-10583T>A)
c.74-11475T>A (n.74-11475T>A)
dbSNP
10g.43100624T>CCA376770378RETc.239T>C (p.Leu80Pro)
c.141T>C
c.74-10583T>C (n.74-10583T>C)
c.74-11475T>C (n.74-11475T>C)
10g.43100624T>GCA376770379RETc.239T>G (p.Leu80Arg)
c.141T>G
c.74-10583T>G (n.74-10583T>G)
c.74-11475T>G (n.74-11475T>G)
10g.43100625G>ACA469490678RETc.240G>A (p.Leu80=)
c.142G>A
c.74-10582G>A (n.74-10582G>A)
c.74-11474G>A (n.74-11474G>A)
dbSNP
10g.43100625G>CCA469490679RETc.240G>C (p.Leu80=)
c.142G>C
c.74-10582G>C (n.74-10582G>C)
c.74-11474G>C (n.74-11474G>C)
dbSNP
10g.43100625G>TCA469490681RETc.240G>T (p.Leu80=)
c.142G>T
c.74-10582G>T (n.74-10582G>T)
c.74-11474G>T (n.74-11474G>T)
10g.43100626C>ACA376770380RETc.241C>A (p.His81Asn)
c.143C>A
c.74-10581C>A (n.74-10581C>A)
c.74-11473C>A (n.74-11473C>A)
dbSNP
10g.43100626C=CA1905836832RETc.241C= (p.His81=)
c.143C=
c.74-10581C= (n.74-10581C=)
c.74-11473C= (n.74-11473C=)
10g.43100626C>GCA376770381RETc.241C>G (p.His81Asp)
c.143C>G
c.74-10581C>G (n.74-10581C>G)
c.74-11473C>G (n.74-11473C>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.43100626C>TCA376770382RETc.241C>T (p.His81Tyr)
c.143C>T
c.74-10581C>T (n.74-10581C>T)
c.74-11473C>T (n.74-11473C>T)
ClinVar dbSNP
10g.43100627A=CA1905836833RETc.242A= (p.His81=)
c.144A=
c.74-10580A= (n.74-10580A=)
c.74-11472A= (n.74-11472A=)
10g.43100627A>CCA376770385RETc.242A>C (p.His81Pro)
c.144A>C
c.74-10580A>C (n.74-10580A>C)
c.74-11472A>C (n.74-11472A>C)
10g.43100627A>GCA376770384RETc.242A>G (p.His81Arg)
c.144A>G
c.74-10580A>G (n.74-10580A>G)
c.74-11472A>G (n.74-11472A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100627A>TCA376770383RETc.242A>T (p.His81Leu)
c.144A>T
c.74-10580A>T (n.74-10580A>T)
c.74-11472A>T (n.74-11472A>T)
dbSNP
10g.43100628T>ACA376770387RETc.243T>A (p.His81Gln)
c.145T>A
c.74-10579T>A (n.74-10579T>A)
c.74-11471T>A (n.74-11471T>A)
ClinVar
10g.43100628T>CCA469490689RETc.243T>C (p.His81=)
c.145T>C
c.74-10579T>C (n.74-10579T>C)
c.74-11471T>C (n.74-11471T>C)
10g.43100628T>GCA376770386RETc.243T>G (p.His81Gln)
c.145T>G
c.74-10579T>G (n.74-10579T>G)
c.74-11471T>G (n.74-11471T>G)
gnomAD v4
10g.43100629G>ACA376770388RETc.244G>A (p.Glu82Lys)
c.146G>A
c.74-10578G>A (n.74-10578G>A)
c.74-11470G>A (n.74-11470G>A)
gnomAD v4 COSMIC COSMIC
10g.43100629G>CCA376770389RETc.244G>C (p.Glu82Gln)
c.146G>C
c.74-10578G>C (n.74-10578G>C)
c.74-11470G>C (n.74-11470G>C)
10g.43100629G>TCA376770390RETc.244G>T (p.Glu82Ter)
c.146G>T
c.74-10578G>T (n.74-10578G>T)
c.74-11470G>T (n.74-11470G>T)
10g.43100630A>CCA376770391RETc.245A>C (p.Glu82Ala)
c.147A>C
c.74-10577A>C (n.74-10577A>C)
c.74-11469A>C (n.74-11469A>C)
10g.43100630A>GCA376770392RETc.245A>G (p.Glu82Gly)
c.147A>G
c.74-10577A>G (n.74-10577A>G)
c.74-11469A>G (n.74-11469A>G)
gnomAD v4
10g.43100630A>TCA376770393RETc.245A>T (p.Glu82Val)
c.147A>T
c.74-10577A>T (n.74-10577A>T)
c.74-11469A>T (n.74-11469A>T)
dbSNP
10g.43100631G>ACA469490691RETc.246G>A (p.Glu82=)
c.148G>A
c.74-10576G>A (n.74-10576G>A)
c.74-11468G>A (n.74-11468G>A)
ClinVar dbSNP
10g.43100631G>CCA376770394RETc.246G>C (p.Glu82Asp)
c.148G>C
c.74-10576G>C (n.74-10576G>C)
c.74-11468G>C (n.74-11468G>C)
dbSNP
10g.43100631G>TCA376770395RETc.246G>T (p.Glu82Asp)
c.148G>T
c.74-10576G>T (n.74-10576G>T)
c.74-11468G>T (n.74-11468G>T)
10g.43100632A>CCA376770396RETc.247A>C (p.Asn83His)
c.149A>C
c.74-10575A>C (n.74-10575A>C)
c.74-11467A>C (n.74-11467A>C)
dbSNP
10g.43100632A>GCA376770397RETc.247A>G (p.Asn83Asp)
c.149A>G
c.74-10575A>G (n.74-10575A>G)
c.74-11467A>G (n.74-11467A>G)
10g.43100632A>TCA376770398RETc.247A>T (p.Asn83Tyr)
c.149A>T
c.74-10575A>T (n.74-10575A>T)
c.74-11467A>T (n.74-11467A>T)
dbSNP
10g.43100633A>CCA376770401RETc.248A>C (p.Asn83Thr)
c.150A>C
c.74-10574A>C (n.74-10574A>C)
c.74-11466A>C (n.74-11466A>C)
dbSNP
10g.43100633A>GCA376770400RETc.248A>G (p.Asn83Ser)
c.150A>G
c.74-10574A>G (n.74-10574A>G)
c.74-11466A>G (n.74-11466A>G)
10g.43100633A>TCA376770399RETc.248A>T (p.Asn83Ile)
c.150A>T
c.74-10574A>T (n.74-10574A>T)
c.74-11466A>T (n.74-11466A>T)
dbSNP
10g.43100634C>ACA376770402RETc.249C>A (p.Asn83Lys)
c.151C>A
c.74-10573C>A (n.74-10573C>A)
c.74-11465C>A (n.74-11465C>A)
dbSNP
10g.43100634C=CA1905836834RETc.249C= (p.Asn83=)
c.151C=
c.74-10573C= (n.74-10573C=)
c.74-11465C= (n.74-11465C=)
10g.43100634C>GCA376770403RETc.249C>G (p.Asn83Lys)
c.151C>G
c.74-10573C>G (n.74-10573C>G)
c.74-11465C>G (n.74-11465C>G)
dbSNP
10g.43100634C>TCA16613048RETc.249C>T (p.Asn83=)
c.151C>T
c.74-10573C>T (n.74-10573C>T)
c.74-11465C>T (n.74-11465C>T)
ClinVar dbSNP
10g.43100635A>CCA376770404RETc.250A>C (p.Asn84His)
c.152A>C
c.74-10572A>C (n.74-10572A>C)
c.74-11464A>C (n.74-11464A>C)
10g.43100635A>GCA376770405RETc.250A>G (p.Asn84Asp)
c.152A>G
c.74-10572A>G (n.74-10572A>G)
c.74-11464A>G (n.74-11464A>G)
10g.43100635A>TCA376770406RETc.250A>T (p.Asn84Tyr)
c.152A>T
c.74-10572A>T (n.74-10572A>T)
c.74-11464A>T (n.74-11464A>T)
dbSNP
10g.43100636A>CCA376770407RETc.251A>C (p.Asn84Thr)
c.153A>C
c.74-10571A>C (n.74-10571A>C)
c.74-11463A>C (n.74-11463A>C)
dbSNP
10g.43100636A>GCA376770408RETc.251A>G (p.Asn84Ser)
c.153A>G
c.74-10571A>G (n.74-10571A>G)
c.74-11463A>G (n.74-11463A>G)
dbSNP
10g.43100636A>TCA376770409RETc.251A>T (p.Asn84Ile)
c.153A>T
c.74-10571A>T (n.74-10571A>T)
c.74-11463A>T (n.74-11463A>T)
dbSNP
10g.43100637C>ACA376770410RETc.252C>A (p.Asn84Lys)
c.154C>A
c.74-10570C>A (n.74-10570C>A)
c.74-11462C>A (n.74-11462C>A)
dbSNP
10g.43100637C=CA1905836835RETc.252C= (p.Asn84=)
c.154C=
c.74-10570C= (n.74-10570C=)
c.74-11462C= (n.74-11462C=)
10g.43100637C>GCA039590RETc.252C>G (p.Asn84Lys)
c.154C>G
c.74-10570C>G (n.74-10570C>G)
c.74-11462C>G (n.74-11462C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100637C>TCA469490704RETc.252C>T (p.Asn84=)
c.154C>T
c.74-10570C>T (n.74-10570C>T)
c.74-11462C>T (n.74-11462C>T)
ClinVar dbSNP gnomAD v4
10g.43100638T>ACA376770411RETc.253T>A (p.Trp85Arg)
c.155T>A
c.74-10569T>A (n.74-10569T>A)
c.74-11461T>A (n.74-11461T>A)
10g.43100638T>CCA376770412RETc.253T>C (p.Trp85Arg)
c.155T>C
c.74-10569T>C (n.74-10569T>C)
c.74-11461T>C (n.74-11461T>C)
10g.43100638T>GCA376770413RETc.253T>G (p.Trp85Gly)
c.155T>G
c.74-10569T>G (n.74-10569T>G)
c.74-11461T>G (n.74-11461T>G)
10g.43100639G>ACA376770415RETc.254G>A (p.Trp85Ter)
c.156G>A
c.74-10568G>A (n.74-10568G>A)
c.74-11460G>A (n.74-11460G>A)
COSMIC COSMIC
10g.43100639G>CCA376770416RETc.254G>C (p.Trp85Ser)
c.156G>C
c.74-10568G>C (n.74-10568G>C)
c.74-11460G>C (n.74-11460G>C)
10g.43100639G>TCA376770414RETc.254G>T (p.Trp85Leu)
c.156G>T
c.74-10568G>T (n.74-10568G>T)
c.74-11460G>T (n.74-11460G>T)
10g.43100640G>ACA376770417RETc.255G>A (p.Trp85Ter)
c.157G>A
c.74-10567G>A (n.74-10567G>A)
c.74-11459G>A (n.74-11459G>A)
ClinVar dbSNP
10g.43100640G>CCA376770419RETc.255G>C (p.Trp85Cys)
c.157G>C
c.74-10567G>C (n.74-10567G>C)
c.74-11459G>C (n.74-11459G>C)
dbSNP
10g.43100640G>TCA376770418RETc.255G>T (p.Trp85Cys)
c.157G>T
c.74-10567G>T (n.74-10567G>T)
c.74-11459G>T (n.74-11459G>T)
dbSNP

Number of alleles fetched