Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.43100431C>ACA2721852028RETc.74-28C>A (n.74-28C>A)
c.74-10776C>A (n.74-10776C>A)
c.74-11668C>A (n.74-11668C>A)
dbSNP
10g.43100431C>GCA2721852026RETc.74-28C>G (n.74-28C>G)
c.74-10776C>G (n.74-10776C>G)
c.74-11668C>G (n.74-11668C>G)
dbSNP
10g.43100431C>TCA2721852016RETc.74-28C>T (n.74-28C>T)
c.74-10776C>T (n.74-10776C>T)
c.74-11668C>T (n.74-11668C>T)
dbSNP
10g.43100432C=CA1905836734RETc.74-27C= (n.74-27C=)
c.74-10775C= (n.74-10775C=)
c.74-11667C= (n.74-11667C=)
10g.43100432C>TCA665322064RETc.74-27C>T (n.74-27C>T)
c.74-10775C>T (n.74-10775C>T)
c.74-11667C>T (n.74-11667C>T)
dbSNP
10g.43100433C>ACA2721536458RETc.74-26C>A (n.74-26C>A)
c.74-10774C>A (n.74-10774C>A)
c.74-11666C>A (n.74-11666C>A)
dbSNP
10g.43100433C=CA1905836735RETc.74-26C= (n.74-26C=)
c.74-10774C= (n.74-10774C=)
c.74-11666C= (n.74-11666C=)
10g.43100433C>GCA2608894025RETc.74-26C>G (n.74-26C>G)
c.74-10774C>G (n.74-10774C>G)
c.74-11666C>G (n.74-11666C>G)
gnomAD v4
10g.43100433C>TCA044717RETc.74-26C>T (n.74-26C>T)
c.74-10774C>T (n.74-10774C>T)
c.74-11666C>T (n.74-11666C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100435C>ACA2721852218RETc.74-24C>A (n.74-24C>A)
c.74-10772C>A (n.74-10772C>A)
c.74-11664C>A (n.74-11664C>A)
dbSNP
10g.43100435C>GCA2721852039RETc.74-24C>G (n.74-24C>G)
c.74-10772C>G (n.74-10772C>G)
c.74-11664C>G (n.74-11664C>G)
dbSNP
10g.43100435C>TCA2721852099RETc.74-24C>T (n.74-24C>T)
c.74-10772C>T (n.74-10772C>T)
c.74-11664C>T (n.74-11664C>T)
dbSNP
10g.43100435_43100439delCA2721852209RETc.74-24_74-20del (n.74-24_74-20del)
c.74-10772_74-10768del (n.74-10772_74-10768del)
c.74-11664_74-11660del (n.74-11664_74-11660del)
dbSNP
10g.43100436A>CCA2721852225RETc.74-23A>C (n.74-23A>C)
c.74-10771A>C (n.74-10771A>C)
c.74-11663A>C (n.74-11663A>C)
dbSNP
10g.43100436A>GCA2721852233RETc.74-23A>G (n.74-23A>G)
c.74-10771A>G (n.74-10771A>G)
c.74-11663A>G (n.74-11663A>G)
dbSNP
10g.43100436A>TCA927692688RETc.74-23A>T (n.74-23A>T)
c.74-10771A>T (n.74-10771A>T)
c.74-11663A>T (n.74-11663A>T)
dbSNP gnomAD v3 gnomAD v4
10g.43100437C>ACA2721617292RETc.74-22C>A (n.74-22C>A)
c.74-10770C>A (n.74-10770C>A)
c.74-11662C>A (n.74-11662C>A)
dbSNP
10g.43100437C=CA1905836736RETc.74-22C= (n.74-22C=)
c.74-10770C= (n.74-10770C=)
c.74-11662C= (n.74-11662C=)
10g.43100437C>GCA1905836737RETc.74-22C>G (n.74-22C>G)
c.74-10770C>G (n.74-10770C>G)
c.74-11662C>G (n.74-11662C>G)
dbSNP
10g.43100437C>TCA2721617291RETc.74-22C>T (n.74-22C>T)
c.74-10770C>T (n.74-10770C>T)
c.74-11662C>T (n.74-11662C>T)
dbSNP
10g.43100438T>ACA2721852240RETc.74-21T>A (n.74-21T>A)
c.74-10769T>A (n.74-10769T>A)
c.74-11661T>A (n.74-11661T>A)
dbSNP
10g.43100438T>CCA2721852271RETc.74-21T>C (n.74-21T>C)
c.74-10769T>C (n.74-10769T>C)
c.74-11661T>C (n.74-11661T>C)
dbSNP
10g.43100439C>ACA2721546143RETc.74-20C>A (n.74-20C>A)
c.74-10768C>A (n.74-10768C>A)
c.74-11660C>A (n.74-11660C>A)
dbSNP
10g.43100439C=CA1905836738RETc.74-20C= (n.74-20C=)
c.74-10768C= (n.74-10768C=)
c.74-11660C= (n.74-11660C=)
10g.43100439C>GCA2608894034RETc.74-20C>G (n.74-20C>G)
c.74-10768C>G (n.74-10768C>G)
c.74-11660C>G (n.74-11660C>G)
gnomAD v4
10g.43100439C>TCA206713117RETc.74-20C>T (n.74-20C>T)
c.74-10768C>T (n.74-10768C>T)
c.74-11660C>T (n.74-11660C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100440A>GCA2721852274RETc.74-19A>G (n.74-19A>G)
c.74-10767A>G (n.74-10767A>G)
c.74-11659A>G (n.74-11659A>G)
dbSNP
10g.43100440A>TCA2721852315RETc.74-19A>T (n.74-19A>T)
c.74-10767A>T (n.74-10767A>T)
c.74-11659A>T (n.74-11659A>T)
dbSNP
10g.43100447_43100454dupCA2608894036RETc.74-12_74-5dup (n.74-12_74-5dup)
c.74-10760_74-10753dup (n.74-10760_74-10753dup)
c.74-11652_74-11645dup (n.74-11652_74-11645dup)
gnomAD v4
10g.43100447_43100454delCA2573145048RETc.74-12_74-5del (n.74-12_74-5del)
c.74-10760_74-10753del (n.74-10760_74-10753del)
c.74-11652_74-11645del (n.74-11652_74-11645del)
ClinVar dbSNP gnomAD v4
10g.43100441C>ACA2721852405RETc.74-18C>A (n.74-18C>A)
c.74-10766C>A (n.74-10766C>A)
c.74-11658C>A (n.74-11658C>A)
dbSNP
10g.43100441C>GCA2608894038RETc.74-18C>G (n.74-18C>G)
c.74-10766C>G (n.74-10766C>G)
c.74-11658C>G (n.74-11658C>G)
dbSNP gnomAD v4
10g.43100441C>TCA2608894037RETc.74-18C>T (n.74-18C>T)
c.74-10766C>T (n.74-10766C>T)
c.74-11658C>T (n.74-11658C>T)
ClinVar dbSNP gnomAD v4
10g.43100442T>CCA1905836740RETc.74-17T>C (n.74-17T>C)
c.74-10765T>C (n.74-10765T>C)
c.74-11657T>C (n.74-11657T>C)
dbSNP gnomAD v4
10g.43100442T>GCA044697RETc.74-17T>G (n.74-17T>G)
c.74-10765T>G (n.74-10765T>G)
c.74-11657T>G (n.74-11657T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100442T=CA1905836739RETc.74-17T= (n.74-17T=)
c.74-10765T= (n.74-10765T=)
c.74-11657T= (n.74-11657T=)
10g.43100443T>ACA2721852407RETc.74-16T>A (n.74-16T>A)
c.74-10764T>A (n.74-10764T>A)
c.74-11656T>A (n.74-11656T>A)
dbSNP
10g.43100443T>CCA2721852436RETc.74-16T>C (n.74-16T>C)
c.74-10764T>C (n.74-10764T>C)
c.74-11656T>C (n.74-11656T>C)
dbSNP
10g.43100444C>ACA2721852496RETc.74-15C>A (n.74-15C>A)
c.74-10763C>A (n.74-10763C>A)
c.74-11655C>A (n.74-11655C>A)
dbSNP
10g.43100444C>GCA2721852495RETc.74-15C>G (n.74-15C>G)
c.74-10763C>G (n.74-10763C>G)
c.74-11655C>G (n.74-11655C>G)
dbSNP
10g.43100444C>TCA2721852483RETc.74-15C>T (n.74-15C>T)
c.74-10763C>T (n.74-10763C>T)
c.74-11655C>T (n.74-11655C>T)
dbSNP
10g.43100445C>ACA2721852499RETc.74-14C>A (n.74-14C>A)
c.74-10762C>A (n.74-10762C>A)
c.74-11654C>A (n.74-11654C>A)
dbSNP
10g.43100445C>GCA2721852498RETc.74-14C>G (n.74-14C>G)
c.74-10762C>G (n.74-10762C>G)
c.74-11654C>G (n.74-11654C>G)
dbSNP
10g.43100445C>TCA2721852497RETc.74-14C>T (n.74-14C>T)
c.74-10762C>T (n.74-10762C>T)
c.74-11654C>T (n.74-11654C>T)
dbSNP
10g.43100447T>ACA2721852532RETc.74-12T>A (n.74-12T>A)
c.74-10760T>A (n.74-10760T>A)
c.74-11652T>A (n.74-11652T>A)
dbSNP
10g.43100447T>CCA2721852501RETc.74-12T>C (n.74-12T>C)
c.74-10760T>C (n.74-10760T>C)
c.74-11652T>C (n.74-11652T>C)
dbSNP
10g.43100447T=CA1905836741RETc.74-12T= (n.74-12T=)
c.74-10760T= (n.74-10760T=)
c.74-11652T= (n.74-11652T=)
10g.43100448A>CCA2721852587RETc.74-11A>C (n.74-11A>C)
c.74-10759A>C (n.74-10759A>C)
c.74-11651A>C (n.74-11651A>C)
dbSNP
10g.43100448A>TCA2529098135RETc.74-11A>T (n.74-11A>T)
c.74-10759A>T (n.74-10759A>T)
c.74-11651A>T (n.74-11651A>T)
dbSNP
10g.43100448_43100449dupCA593292882RETc.74-11_74-10dup (n.74-11_74-10dup)
c.74-10759_74-10758dup (n.74-10759_74-10758dup)
c.74-11651_74-11650dup (n.74-11651_74-11650dup)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43100449C>ACA593292883RETc.74-10C>A (n.74-10C>A)
c.74-10758C>A (n.74-10758C>A)
c.74-11650C>A (n.74-11650C>A)
dbSNP gnomAD v2 gnomAD v4
10g.43100449C=CA1905836742RETc.74-10C= (n.74-10C=)
c.74-10758C= (n.74-10758C=)
c.74-11650C= (n.74-11650C=)
10g.43100449C>GCA2721550744RETc.74-10C>G (n.74-10C>G)
c.74-10758C>G (n.74-10758C>G)
c.74-11650C>G (n.74-11650C>G)
dbSNP
10g.43100449C>TCA2721550743RETc.74-10C>T (n.74-10C>T)
c.74-10758C>T (n.74-10758C>T)
c.74-11650C>T (n.74-11650C>T)
dbSNP
10g.43100450T>ACA2721535339RETc.74-9T>A (n.74-9T>A)
c.74-10757T>A (n.74-10757T>A)
c.74-11649T>A (n.74-11649T>A)
dbSNP
10g.43100450T>CCA044802RETc.74-9T>C (n.74-9T>C)
c.74-10757T>C (n.74-10757T>C)
c.74-11649T>C (n.74-11649T>C)
dbSNP ExAC gnomAD v2
10g.43100450T=CA1905836743RETc.74-9T= (n.74-9T=)
c.74-10757T= (n.74-10757T=)
c.74-11649T= (n.74-11649T=)
10g.43100451T>GCA2608894052RETc.74-8T>G (n.74-8T>G)
c.74-10756T>G (n.74-10756T>G)
c.74-11648T>G (n.74-11648T>G)
gnomAD v4
10g.43100451_43100458delinsTCCCACAGCA1905836744RETc.74-8_74-1delinsTCCCACAG (n.74-8_74-1delinsTCCCACAG)
c.74-10756_74-10749delinsTCCCACAG (n.74-10756_74-10749delinsTCCCACAG)
c.74-11648_74-11641delinsTCCCACAG (n.74-11648_74-11641delinsTCCCACAG)
10g.43100452C=CA1905836745RETc.74-7C= (n.74-7C=)
c.74-10755C= (n.74-10755C=)
c.74-11647C= (n.74-11647C=)
10g.43100452C>TCA044791RETc.74-7C>T (n.74-7C>T)
c.74-10755C>T (n.74-10755C>T)
c.74-11647C>T (n.74-11647C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100452_43100458delCA927692692RETc.74-7_74-1del (n.74-7_74-1del)
c.74-10755_74-10749del (n.74-10755_74-10749del)
c.74-11647_74-11641del (n.74-11647_74-11641del)
dbSNP gnomAD v3 gnomAD v4
10g.43100453C>ACA2721852620RETc.74-6C>A (n.74-6C>A)
c.74-10754C>A (n.74-10754C>A)
c.74-11646C>A (n.74-11646C>A)
dbSNP
10g.43100453C>GCA2721852619RETc.74-6C>G (n.74-6C>G)
c.74-10754C>G (n.74-10754C>G)
c.74-11646C>G (n.74-11646C>G)
dbSNP
10g.43100453C>TCA2721852592RETc.74-6C>T (n.74-6C>T)
c.74-10754C>T (n.74-10754C>T)
c.74-11646C>T (n.74-11646C>T)
dbSNP
10g.43100454C>ACA2721591371RETc.74-5C>A (n.74-5C>A)
c.74-10753C>A (n.74-10753C>A)
c.74-11645C>A (n.74-11645C>A)
dbSNP
10g.43100454C=CA1905836746RETc.74-5C= (n.74-5C=)
c.74-10753C= (n.74-10753C=)
c.74-11645C= (n.74-11645C=)
10g.43100454C>GCA2721591370RETc.74-5C>G (n.74-5C>G)
c.74-10753C>G (n.74-10753C>G)
c.74-11645C>G (n.74-11645C>G)
dbSNP
10g.43100454C>TCA658657959RETc.74-5C>T (n.74-5C>T)
c.74-10753C>T (n.74-10753C>T)
c.74-11645C>T (n.74-11645C>T)
ClinVar dbSNP gnomAD v4
10g.43100455A=CA1905836747RETc.74-4A= (n.74-4A=)
c.74-10752A= (n.74-10752A=)
c.74-11644A= (n.74-11644A=)
10g.43100455A>CCA927692694RETc.74-4A>C (n.74-4A>C)
c.74-10752A>C (n.74-10752A>C)
c.74-11644A>C (n.74-11644A>C)
dbSNP gnomAD v3 gnomAD v4
10g.43100455A>GCA2721617293RETc.74-4A>G (n.74-4A>G)
c.74-10752A>G (n.74-10752A>G)
c.74-11644A>G (n.74-11644A>G)
dbSNP
10g.43100455A>TCA2721617294RETc.74-4A>T (n.74-4A>T)
c.74-10752A>T (n.74-10752A>T)
c.74-11644A>T (n.74-11644A>T)
dbSNP
10g.43100456C>ACA2721852622RETc.74-3C>A (n.74-3C>A)
c.74-10751C>A (n.74-10751C>A)
c.74-11643C>A (n.74-11643C>A)
dbSNP
10g.43100456C>GCA2721852621RETc.74-3C>G (n.74-3C>G)
c.74-10751C>G (n.74-10751C>G)
c.74-11643C>G (n.74-11643C>G)
dbSNP
10g.43100456C>TCA2721852631RETc.74-3C>T (n.74-3C>T)
c.74-10751C>T (n.74-10751C>T)
c.74-11643C>T (n.74-11643C>T)
dbSNP
10g.43100457A>CCA376770026RETc.74-2A>C (n.74-2A>C)
c.74-10750A>C (n.74-10750A>C)
c.74-11642A>C (n.74-11642A>C)
10g.43100457A>GCA376770027RETc.74-2A>G (n.74-2A>G)
c.74-10750A>G (n.74-10750A>G)
c.74-11642A>G (n.74-11642A>G)
10g.43100457A>TCA376770028RETc.74-2A>T (n.74-2A>T)
c.74-10750A>T (n.74-10750A>T)
c.74-11642A>T (n.74-11642A>T)
ClinVar dbSNP
10g.43100458G>ACA376770029RETc.74-1G>A (n.74-1G>A)
c.74-10749G>A (n.74-10749G>A)
c.74-11641G>A (n.74-11641G>A)
dbSNP COSMIC COSMIC
10g.43100458G>CCA376770030RETc.74-1G>C (n.74-1G>C)
c.74-10749G>C (n.74-10749G>C)
c.74-11641G>C (n.74-11641G>C)
dbSNP
10g.43100458G>TCA376770031RETc.74-1G>T (n.74-1G>T)
c.74-10749G>T (n.74-10749G>T)
c.74-11641G>T (n.74-11641G>T)
10g.43100459T>ACA376770034RETc.74T>A (p.Val25Glu)
c.74-10748T>A (n.74-10748T>A)
c.74-11640T>A (n.74-11640T>A)
10g.43100459T>CCA376770033RETc.74T>C (p.Val25Ala)
c.74-10748T>C (n.74-10748T>C)
c.74-11640T>C (n.74-11640T>C)
10g.43100459T>GCA376770032RETc.74T>G (p.Val25Gly)
c.74-10748T>G (n.74-10748T>G)
c.74-11640T>G (n.74-11640T>G)
10g.43100460G>ACA469490280RETc.75G>A (p.Val25=)
c.74-10747G>A (n.74-10747G>A)
c.74-11639G>A (n.74-11639G>A)
dbSNP gnomAD v4
10g.43100460G>CCA469490282RETc.75G>C (p.Val25=)
c.74-10747G>C (n.74-10747G>C)
c.74-11639G>C (n.74-11639G>C)
dbSNP
10g.43100460G>TCA469490283RETc.75G>T (p.Val25=)
c.74-10747G>T (n.74-10747G>T)
c.74-11639G>T (n.74-11639G>T)
dbSNP
10g.43100461G>ACA376770035RETc.76G>A (p.Ala26Thr)
c.74-10746G>A (n.74-10746G>A)
c.74-11638G>A (n.74-11638G>A)
ClinVar dbSNP
10g.43100461G>CCA376770036RETc.76G>C (p.Ala26Pro)
c.74-10746G>C (n.74-10746G>C)
c.74-11638G>C (n.74-11638G>C)
dbSNP
10g.43100461G=CA1905836748RETc.76G= (p.Ala26=)
c.74-10746G= (n.74-10746G=)
c.74-11638G= (n.74-11638G=)
10g.43100461G>TCA376770037RETc.76G>T (p.Ala26Ser)
c.74-10746G>T (n.74-10746G>T)
c.74-11638G>T (n.74-11638G>T)
ClinVar dbSNP gnomAD v4
10g.43100462C>ACA376770038RETc.77C>A (p.Ala26Glu)
c.74-10745C>A (n.74-10745C>A)
c.74-11637C>A (n.74-11637C>A)
dbSNP
10g.43100462C>GCA376770039RETc.77C>G (p.Ala26Gly)
c.74-10745C>G (n.74-10745C>G)
c.74-11637C>G (n.74-11637C>G)
dbSNP
10g.43100462C>TCA376770040RETc.77C>T (p.Ala26Val)
c.74-10745C>T (n.74-10745C>T)
c.74-11637C>T (n.74-11637C>T)
ClinVar dbSNP gnomAD v4
10g.43100463A>CCA469490285RETc.78A>C (p.Ala26=)
c.74-10744A>C (n.74-10744A>C)
c.74-11636A>C (n.74-11636A>C)
10g.43100463A>GCA469490286RETc.78A>G (p.Ala26=)
c.74-10744A>G (n.74-10744A>G)
c.74-11636A>G (n.74-11636A>G)
10g.43100463A>TCA469490287RETc.78A>T (p.Ala26=)
c.74-10744A>T (n.74-10744A>T)
c.74-11636A>T (n.74-11636A>T)
ClinVar dbSNP
10g.43100464T>ACA376770041RETc.79T>A (p.Leu27Met)
c.74-10743T>A (n.74-10743T>A)
c.74-11635T>A (n.74-11635T>A)
dbSNP
10g.43100464T>CCA044932RETc.79T>C (p.Leu27=)
c.74-10743T>C (n.74-10743T>C)
c.74-11635T>C (n.74-11635T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100464T>GCA376770042RETc.79T>G (p.Leu27Val)
c.74-10743T>G (n.74-10743T>G)
c.74-11635T>G (n.74-11635T>G)
dbSNP
10g.43100464T=CA1905836749RETc.79T= (p.Leu27=)
c.74-10743T= (n.74-10743T=)
c.74-11635T= (n.74-11635T=)
10g.43100465T>ACA376770043RETc.80T>A (p.Leu27Ter)
c.74-10742T>A (n.74-10742T>A)
c.74-11634T>A (n.74-11634T>A)
10g.43100465T>CCA376770044RETc.80T>C (p.Leu27Ser)
c.74-10742T>C (n.74-10742T>C)
c.74-11634T>C (n.74-11634T>C)
gnomAD v4
10g.43100465T>GCA376770045RETc.80T>G (p.Leu27Trp)
c.74-10742T>G (n.74-10742T>G)
c.74-11634T>G (n.74-11634T>G)
dbSNP
10g.43100466G>ACA044971RETc.81G>A (p.Leu27=)
c.74-10741G>A (n.74-10741G>A)
c.74-11633G>A (n.74-11633G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100466G>CCA376770047RETc.81G>C (p.Leu27Phe)
c.74-10741G>C (n.74-10741G>C)
c.74-11633G>C (n.74-11633G>C)
dbSNP
10g.43100466G=CA1905836750RETc.81G= (p.Leu27=)
c.74-10741G= (n.74-10741G=)
c.74-11633G= (n.74-11633G=)
10g.43100466G>TCA376770046RETc.81G>T (p.Leu27Phe)
c.74-10741G>T (n.74-10741G>T)
c.74-11633G>T (n.74-11633G>T)
dbSNP
10g.43100467G>ACA045033RETc.82G>A (p.Gly28Ser)
c.74-10740G>A (n.74-10740G>A)
c.74-11632G>A (n.74-11632G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100467G>CCA376770048RETc.82G>C (p.Gly28Arg)
c.74-10740G>C (n.74-10740G>C)
c.74-11632G>C (n.74-11632G>C)
dbSNP
10g.43100467G=CA1905836751RETc.82G= (p.Gly28=)
c.74-10740G= (n.74-10740G=)
c.74-11632G= (n.74-11632G=)
10g.43100467G>TCA376770049RETc.82G>T (p.Gly28Cys)
c.74-10740G>T (n.74-10740G>T)
c.74-11632G>T (n.74-11632G>T)
dbSNP
10g.43100468G>ACA376770050RETc.83G>A (p.Gly28Asp)
c.74-10739G>A (n.74-10739G>A)
c.74-11631G>A (n.74-11631G>A)
dbSNP
10g.43100468G>CCA376770051RETc.83G>C (p.Gly28Ala)
c.74-10739G>C (n.74-10739G>C)
c.74-11631G>C (n.74-11631G>C)
dbSNP
10g.43100468G>TCA376770052RETc.83G>T (p.Gly28Val)
c.74-10739G>T (n.74-10739G>T)
c.74-11631G>T (n.74-11631G>T)
dbSNP
10g.43100469C>ACA469490301RETc.84C>A (p.Gly28=)
c.74-10738C>A (n.74-10738C>A)
c.74-11630C>A (n.74-11630C>A)
10g.43100469C>GCA469490303RETc.84C>G (p.Gly28=)
c.74-10738C>G (n.74-10738C>G)
c.74-11630C>G (n.74-11630C>G)
10g.43100469C>TCA469490302RETc.84C>T (p.Gly28=)
c.74-10738C>T (n.74-10738C>T)
c.74-11630C>T (n.74-11630C>T)
dbSNP
10g.43100470C>ACA376770053RETc.85C>A (p.Leu29Ile)
c.74-10737C>A (n.74-10737C>A)
c.74-11629C>A (n.74-11629C>A)
dbSNP
10g.43100470C>GCA376770054RETc.85C>G (p.Leu29Val)
c.74-10737C>G (n.74-10737C>G)
c.74-11629C>G (n.74-11629C>G)
dbSNP
10g.43100470C>TCA376770055RETc.85C>T (p.Leu29Phe)
c.74-10737C>T (n.74-10737C>T)
c.74-11629C>T (n.74-11629C>T)
dbSNP
10g.43100471T>ACA376770056RETc.86T>A (p.Leu29His)
c.74-10736T>A (n.74-10736T>A)
c.74-11628T>A (n.74-11628T>A)
dbSNP
10g.43100471T>CCA376770057RETc.86T>C (p.Leu29Pro)
c.74-10736T>C (n.74-10736T>C)
c.74-11628T>C (n.74-11628T>C)
dbSNP
10g.43100471T>GCA376770058RETc.86T>G (p.Leu29Arg)
c.74-10736T>G (n.74-10736T>G)
c.74-11628T>G (n.74-11628T>G)
10g.43100472C>ACA469490315RETc.87C>A (p.Leu29=)
c.74-10735C>A (n.74-10735C>A)
c.74-11627C>A (n.74-11627C>A)
dbSNP
10g.43100472C=CA1905836752RETc.87C= (p.Leu29=)
c.74-10735C= (n.74-10735C=)
c.74-11627C= (n.74-11627C=)
10g.43100472C>GCA469490309RETc.87C>G (p.Leu29=)
c.74-10735C>G (n.74-10735C>G)
c.74-11627C>G (n.74-11627C>G)
ClinVar dbSNP
10g.43100472C>TCA469490312RETc.87C>T (p.Leu29=)
c.74-10735C>T (n.74-10735C>T)
c.74-11627C>T (n.74-11627C>T)
dbSNP
10g.43100473T>ACA376770060RETc.88T>A (p.Tyr30Asn)
c.74-10734T>A (n.74-10734T>A)
c.74-11626T>A (n.74-11626T>A)
dbSNP
10g.43100473T>CCA376770061RETc.88T>C (p.Tyr30His)
c.74-10734T>C (n.74-10734T>C)
c.74-11626T>C (n.74-11626T>C)
dbSNP
10g.43100473T>GCA376770059RETc.88T>G (p.Tyr30Asp)
c.74-10734T>G (n.74-10734T>G)
c.74-11626T>G (n.74-11626T>G)
10g.43100473T=CA1905836753RETc.88T= (p.Tyr30=)
c.74-10734T= (n.74-10734T=)
c.74-11626T= (n.74-11626T=)
10g.43100474A>CCA376770062RETc.89A>C (p.Tyr30Ser)
c.74-10733A>C (n.74-10733A>C)
c.74-11625A>C (n.74-11625A>C)
dbSNP
10g.43100474A>GCA376770063RETc.89A>G (p.Tyr30Cys)
c.74-10733A>G (n.74-10733A>G)
c.74-11625A>G (n.74-11625A>G)
ClinVar dbSNP
10g.43100474A>TCA376770064RETc.89A>T (p.Tyr30Phe)
c.74-10733A>T (n.74-10733A>T)
c.74-11625A>T (n.74-11625A>T)
dbSNP
10g.43100475C>ACA376770065RETc.90C>A (p.Tyr30Ter)
c.74-10732C>A (n.74-10732C>A)
c.74-11624C>A (n.74-11624C>A)
dbSNP
10g.43100475C=CA1905836754RETc.90C= (p.Tyr30=)
c.74-10732C= (n.74-10732C=)
c.74-11624C= (n.74-11624C=)
10g.43100475C>GCA376770066RETc.90C>G (p.Tyr30Ter)
c.74-10732C>G (n.74-10732C>G)
c.74-11624C>G (n.74-11624C>G)
dbSNP
10g.43100475C>TCA469490319RETc.90C>T (p.Tyr30=)
c.74-10732C>T (n.74-10732C>T)
c.74-11624C>T (n.74-11624C>T)
ClinVar dbSNP gnomAD v4
10g.43100476T>ACA376770069RETc.91T>A (p.Phe31Ile)
c.74-10731T>A (n.74-10731T>A)
c.74-11623T>A (n.74-11623T>A)
dbSNP
10g.43100476T>CCA376770067RETc.91T>C (p.Phe31Leu)
c.74-10731T>C (n.74-10731T>C)
c.74-11623T>C (n.74-11623T>C)
dbSNP
10g.43100476T>GCA376770068RETc.91T>G (p.Phe31Val)
c.74-10731T>G (n.74-10731T>G)
c.74-11623T>G (n.74-11623T>G)
10g.43100477T>ACA376770070RETc.92T>A (p.Phe31Tyr)
c.74-10730T>A (n.74-10730T>A)
c.74-11622T>A (n.74-11622T>A)
10g.43100477T>CCA376770071RETc.92T>C (p.Phe31Ser)
c.74-10730T>C (n.74-10730T>C)
c.74-11622T>C (n.74-11622T>C)
dbSNP
10g.43100477T>GCA376770072RETc.92T>G (p.Phe31Cys)
c.74-10730T>G (n.74-10730T>G)
c.74-11622T>G (n.74-11622T>G)
10g.43100478C>ACA376770073RETc.93C>A (p.Phe31Leu)
c.74-10729C>A (n.74-10729C>A)
c.74-11621C>A (n.74-11621C>A)
dbSNP
10g.43100478C>GCA376770074RETc.93C>G (p.Phe31Leu)
c.74-10729C>G (n.74-10729C>G)
c.74-11621C>G (n.74-11621C>G)
dbSNP
10g.43100478C>TCA469490324RETc.93C>T (p.Phe31=)
c.74-10729C>T (n.74-10729C>T)
c.74-11621C>T (n.74-11621C>T)
dbSNP
10g.43100479T>ACA376770077RETc.94T>A (p.Ser32Thr)
c.74-10728T>A (n.74-10728T>A)
c.74-11620T>A (n.74-11620T>A)
dbSNP
10g.43100479T>CCA376770076RETc.94T>C (p.Ser32Pro)
c.74-10728T>C (n.74-10728T>C)
c.74-11620T>C (n.74-11620T>C)
dbSNP
10g.43100479T>GCA376770075RETc.94T>G (p.Ser32Ala)
c.74-10728T>G (n.74-10728T>G)
c.74-11620T>G (n.74-11620T>G)
10g.43100480C>ACA376770078RETc.95C>A (p.Ser32Ter)
c.74-10727C>A (n.74-10727C>A)
c.74-11619C>A (n.74-11619C>A)
dbSNP
10g.43100480C=CA1905836755RETc.95C= (p.Ser32=)
c.74-10727C= (n.74-10727C=)
c.74-11619C= (n.74-11619C=)
10g.43100480C>GCA376770079RETc.95C>G (p.Ser32Trp)
c.74-10727C>G (n.74-10727C>G)
c.74-11619C>G (n.74-11619C>G)
dbSNP
10g.43100480C>TCA009398RETc.95C>T (p.Ser32Leu)
c.74-10727C>T (n.74-10727C>T)
c.74-11619C>T (n.74-11619C>T)
ClinVar dbSNP gnomAD v4
10g.43100481G>ACA045653RETc.96G>A (p.Ser32=)
c.74-10726G>A (n.74-10726G>A)
c.74-11618G>A (n.74-11618G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100481G>CCA469490327RETc.96G>C (p.Ser32=)
c.74-10726G>C (n.74-10726G>C)
c.74-11618G>C (n.74-11618G>C)
dbSNP
10g.43100481G=CA1905836756RETc.96G= (p.Ser32=)
c.74-10726G= (n.74-10726G=)
c.74-11618G= (n.74-11618G=)
10g.43100481G>TCA469490328RETc.96G>T (p.Ser32=)
c.74-10726G>T (n.74-10726G>T)
c.74-11618G>T (n.74-11618G>T)
ClinVar dbSNP
10g.43100482A>CCA469490330RETc.97A>C (p.Arg33=)
c.74-10725A>C (n.74-10725A>C)
c.74-11617A>C (n.74-11617A>C)
10g.43100482A>GCA376770080RETc.97A>G (p.Arg33Gly)
c.74-10725A>G (n.74-10725A>G)
c.74-11617A>G (n.74-11617A>G)
dbSNP
10g.43100482A>TCA376770081RETc.97A>T (p.Arg33Trp)
c.74-10725A>T (n.74-10725A>T)
c.74-11617A>T (n.74-11617A>T)
dbSNP
10g.43100482_43100484delinsAGGCA1905836757RETc.97_99delinsAGG (p.Arg33=)
c.74-10725_74-10723delinsAGG (n.74-10725_74-10723delinsAGG)
c.74-11617_74-11615delinsAGG (n.74-11617_74-11615delinsAGG)
10g.43100483G>ACA376770082RETc.98G>A (p.Arg33Lys)
c.74-10724G>A (n.74-10724G>A)
c.74-11616G>A (n.74-11616G>A)
dbSNP
10g.43100483G>CCA376770083RETc.98G>C (p.Arg33Thr)
c.74-10724G>C (n.74-10724G>C)
c.74-11616G>C (n.74-11616G>C)
dbSNP
10g.43100483G>TCA376770084RETc.98G>T (p.Arg33Met)
c.74-10724G>T (n.74-10724G>T)
c.74-11616G>T (n.74-11616G>T)
dbSNP
10g.43100484_43100485delCA1905836758RETc.99_100del (p.Asp34CysfsTer27)
c.74-10723_74-10722del (n.74-10723_74-10722del)
c.74-11615_74-11614del (n.74-11615_74-11614del)
ClinVar dbSNP
10g.43100484G>ACA045766RETc.99G>A (p.Arg33=)
c.1G>A
c.74-10723G>A (n.74-10723G>A)
c.74-11615G>A (n.74-11615G>A)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.43100484G>CCA376770085RETc.99G>C (p.Arg33Ser)
c.1G>C
c.74-10723G>C (n.74-10723G>C)
c.74-11615G>C (n.74-11615G>C)
dbSNP
10g.43100484G=CA1905836759RETc.99G= (p.Arg33=)
c.1G=
c.74-10723G= (n.74-10723G=)
c.74-11615G= (n.74-11615G=)
10g.43100484G>TCA376770086RETc.99G>T (p.Arg33Ser)
c.1G>T
c.74-10723G>T (n.74-10723G>T)
c.74-11615G>T (n.74-11615G>T)
dbSNP
10g.43100485G>ACA376770087RETc.100G>A (p.Asp34Asn)
c.2G>A
c.74-10722G>A (n.74-10722G>A)
c.74-11614G>A (n.74-11614G>A)
ClinVar dbSNP
10g.43100485G>CCA376770088RETc.100G>C (p.Asp34His)
c.2G>C
c.74-10722G>C (n.74-10722G>C)
c.74-11614G>C (n.74-11614G>C)
dbSNP
10g.43100485G=CA1905836760RETc.100G= (p.Asp34=)
c.2G=
c.74-10722G= (n.74-10722G=)
c.74-11614G= (n.74-11614G=)
10g.43100485G>TCA376770089RETc.100G>T (p.Asp34Tyr)
c.2G>T
c.74-10722G>T (n.74-10722G>T)
c.74-11614G>T (n.74-11614G>T)
ClinVar dbSNP gnomAD v4
10g.43100486A>CCA376770092RETc.101A>C (p.Asp34Ala)
c.3A>C
c.74-10721A>C (n.74-10721A>C)
c.74-11613A>C (n.74-11613A>C)
10g.43100486A>GCA376770090RETc.101A>G (p.Asp34Gly)
c.3A>G
c.74-10721A>G (n.74-10721A>G)
c.74-11613A>G (n.74-11613A>G)
ClinVar dbSNP
10g.43100486A>TCA376770091RETc.101A>T (p.Asp34Val)
c.3A>T
c.74-10721A>T (n.74-10721A>T)
c.74-11613A>T (n.74-11613A>T)
dbSNP
10g.43100487T>ACA376770093RETc.102T>A (p.Asp34Glu)
c.4T>A
c.74-10720T>A (n.74-10720T>A)
c.74-11612T>A (n.74-11612T>A)
dbSNP
10g.43100487T>CCA469490341RETc.102T>C (p.Asp34=)
c.4T>C
c.74-10720T>C (n.74-10720T>C)
c.74-11612T>C (n.74-11612T>C)
ClinVar dbSNP
10g.43100487T>GCA376770094RETc.102T>G (p.Asp34Glu)
c.4T>G
c.74-10720T>G (n.74-10720T>G)
c.74-11612T>G (n.74-11612T>G)
dbSNP
10g.43100487T=CA1905836761RETc.102T= (p.Asp34=)
c.4T=
c.74-10720T= (n.74-10720T=)
c.74-11612T= (n.74-11612T=)
10g.43100488G>ACA206713118RETc.103G>A (p.Ala35Thr)
c.5G>A
c.74-10719G>A (n.74-10719G>A)
c.74-11611G>A (n.74-11611G>A)
ClinVar dbSNP
10g.43100488G>CCA376770095RETc.103G>C (p.Ala35Pro)
c.5G>C
c.74-10719G>C (n.74-10719G>C)
c.74-11611G>C (n.74-11611G>C)
dbSNP
10g.43100488G=CA1905836762RETc.103G= (p.Ala35=)
c.5G=
c.74-10719G= (n.74-10719G=)
c.74-11611G= (n.74-11611G=)
10g.43100488G>TCA376770096RETc.103G>T (p.Ala35Ser)
c.5G>T
c.74-10719G>T (n.74-10719G>T)
c.74-11611G>T (n.74-11611G>T)
dbSNP
10g.43100489C>ACA376770097RETc.104C>A (p.Ala35Asp)
c.6C>A
c.74-10718C>A (n.74-10718C>A)
c.74-11610C>A (n.74-11610C>A)
10g.43100489C=CA1905836763RETc.104C= (p.Ala35=)
c.6C=
c.74-10718C= (n.74-10718C=)
c.74-11610C= (n.74-11610C=)
10g.43100489C>GCA376770098RETc.104C>G (p.Ala35Gly)
c.6C>G
c.74-10718C>G (n.74-10718C>G)
c.74-11610C>G (n.74-11610C>G)
ClinVar
10g.43100489C>TCA376770099RETc.104C>T (p.Ala35Val)
c.6C>T
c.74-10718C>T (n.74-10718C>T)
c.74-11610C>T (n.74-11610C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43100490T>ACA469490350RETc.105T>A (p.Ala35=)
c.7T>A
c.74-10717T>A (n.74-10717T>A)
c.74-11609T>A (n.74-11609T>A)
dbSNP
10g.43100490T>CCA469490352RETc.105T>C (p.Ala35=)
c.7T>C
c.74-10717T>C (n.74-10717T>C)
c.74-11609T>C (n.74-11609T>C)
dbSNP
10g.43100490T>GCA469490355RETc.105T>G (p.Ala35=)
c.7T>G
c.74-10717T>G (n.74-10717T>G)
c.74-11609T>G (n.74-11609T>G)
10g.43100491T>ACA376770100RETc.106T>A (p.Tyr36Asn)
c.8T>A
c.74-10716T>A (n.74-10716T>A)
c.74-11608T>A (n.74-11608T>A)
dbSNP
10g.43100491T>CCA376770101RETc.106T>C (p.Tyr36His)
c.8T>C
c.74-10716T>C (n.74-10716T>C)
c.74-11608T>C (n.74-11608T>C)
dbSNP
10g.43100491T>GCA376770102RETc.106T>G (p.Tyr36Asp)
c.8T>G
c.74-10716T>G (n.74-10716T>G)
c.74-11608T>G (n.74-11608T>G)
10g.43100492A>CCA376770105RETc.107A>C (p.Tyr36Ser)
c.9A>C
c.74-10715A>C (n.74-10715A>C)
c.74-11607A>C (n.74-11607A>C)
dbSNP
10g.43100492A>GCA376770104RETc.107A>G (p.Tyr36Cys)
c.9A>G
c.74-10715A>G (n.74-10715A>G)
c.74-11607A>G (n.74-11607A>G)
dbSNP
10g.43100492A>TCA376770103RETc.107A>T (p.Tyr36Phe)
c.9A>T
c.74-10715A>T (n.74-10715A>T)
c.74-11607A>T (n.74-11607A>T)
dbSNP
10g.43100493C>ACA376770106RETc.108C>A (p.Tyr36Ter)
c.10C>A
c.74-10714C>A (n.74-10714C>A)
c.74-11606C>A (n.74-11606C>A)
dbSNP
10g.43100493C=CA1905836764RETc.108C= (p.Tyr36=)
c.10C=
c.74-10714C= (n.74-10714C=)
c.74-11606C= (n.74-11606C=)
10g.43100493C>GCA376770107RETc.108C>G (p.Tyr36Ter)
c.10C>G
c.74-10714C>G (n.74-10714C>G)
c.74-11606C>G (n.74-11606C>G)
dbSNP
10g.43100493C>TCA206713119RETc.108C>T (p.Tyr36=)
c.10C>T
c.74-10714C>T (n.74-10714C>T)
c.74-11606C>T (n.74-11606C>T)
ClinVar dbSNP COSMIC COSMIC
10g.43100494T>ACA376770108RETc.109T>A (p.Trp37Arg)
c.11T>A
c.74-10713T>A (n.74-10713T>A)
c.74-11605T>A (n.74-11605T>A)
10g.43100494T>CCA031539RETc.109T>C (p.Trp37Arg)
c.11T>C
c.74-10713T>C (n.74-10713T>C)
c.74-11605T>C (n.74-11605T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100494T>GCA376770109RETc.109T>G (p.Trp37Gly)
c.11T>G
c.74-10713T>G (n.74-10713T>G)
c.74-11605T>G (n.74-11605T>G)
10g.43100494T=CA1905836765RETc.109T= (p.Trp37=)
c.11T=
c.74-10713T= (n.74-10713T=)
c.74-11605T= (n.74-11605T=)
10g.43100495G>ACA376770112RETc.110G>A (p.Trp37Ter)
c.12G>A
c.74-10712G>A (n.74-10712G>A)
c.74-11604G>A (n.74-11604G>A)
dbSNP COSMIC COSMIC
10g.43100495G>CCA376770111RETc.110G>C (p.Trp37Ser)
c.12G>C
c.74-10712G>C (n.74-10712G>C)
c.74-11604G>C (n.74-11604G>C)
dbSNP
10g.43100495G>TCA376770110RETc.110G>T (p.Trp37Leu)
c.12G>T
c.74-10712G>T (n.74-10712G>T)
c.74-11604G>T (n.74-11604G>T)
dbSNP
10g.43100496G>ACA376770113RETc.111G>A (p.Trp37Ter)
c.13G>A
c.74-10711G>A (n.74-10711G>A)
c.74-11603G>A (n.74-11603G>A)
ClinVar dbSNP
10g.43100496G>CCA376770114RETc.111G>C (p.Trp37Cys)
c.13G>C
c.74-10711G>C (n.74-10711G>C)
c.74-11603G>C (n.74-11603G>C)
dbSNP
10g.43100496G=CA1905836766RETc.111G= (p.Trp37=)
c.13G=
c.74-10711G= (n.74-10711G=)
c.74-11603G= (n.74-11603G=)
10g.43100496G>TCA376770115RETc.111G>T (p.Trp37Cys)
c.13G>T
c.74-10711G>T (n.74-10711G>T)
c.74-11603G>T (n.74-11603G>T)
dbSNP
10g.43100497G>ACA376770116RETc.112G>A (p.Glu38Lys)
c.14G>A
c.74-10710G>A (n.74-10710G>A)
c.74-11602G>A (n.74-11602G>A)
dbSNP
10g.43100497G>CCA376770117RETc.112G>C (p.Glu38Gln)
c.14G>C
c.74-10710G>C (n.74-10710G>C)
c.74-11602G>C (n.74-11602G>C)
dbSNP
10g.43100497G>TCA376770118RETc.112G>T (p.Glu38Ter)
c.14G>T
c.74-10710G>T (n.74-10710G>T)
c.74-11602G>T (n.74-11602G>T)
dbSNP
10g.43100498A=CA1905836767RETc.113A= (p.Glu38=)
c.15A=
c.74-10709A= (n.74-10709A=)
c.74-11601A= (n.74-11601A=)
10g.43100498A>CCA376770119RETc.113A>C (p.Glu38Ala)
c.15A>C
c.74-10709A>C (n.74-10709A>C)
c.74-11601A>C (n.74-11601A>C)
10g.43100498A>GCA376770121RETc.113A>G (p.Glu38Gly)
c.15A>G
c.74-10709A>G (n.74-10709A>G)
c.74-11601A>G (n.74-11601A>G)
dbSNP
10g.43100498A>TCA376770120RETc.113A>T (p.Glu38Val)
c.15A>T
c.74-10709A>T (n.74-10709A>T)
c.74-11601A>T (n.74-11601A>T)
ClinVar dbSNP
10g.43100499G>ACA031854RETc.114G>A (p.Glu38=)
c.16G>A
c.74-10708G>A (n.74-10708G>A)
c.74-11600G>A (n.74-11600G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100499G>CCA376770122RETc.114G>C (p.Glu38Asp)
c.16G>C
c.74-10708G>C (n.74-10708G>C)
c.74-11600G>C (n.74-11600G>C)
dbSNP
10g.43100499G=CA1905836768RETc.114G= (p.Glu38=)
c.16G=
c.74-10708G= (n.74-10708G=)
c.74-11600G= (n.74-11600G=)
10g.43100499G>TCA376770123RETc.114G>T (p.Glu38Asp)
c.16G>T
c.74-10708G>T (n.74-10708G>T)
c.74-11600G>T (n.74-11600G>T)
10g.43100500A>CCA376770124RETc.115A>C (p.Lys39Gln)
c.17A>C
c.74-10707A>C (n.74-10707A>C)
c.74-11599A>C (n.74-11599A>C)
10g.43100500A>GCA376770125RETc.115A>G (p.Lys39Glu)
c.17A>G
c.74-10707A>G (n.74-10707A>G)
c.74-11599A>G (n.74-11599A>G)
dbSNP
10g.43100500A>TCA376770126RETc.115A>T (p.Lys39Ter)
c.17A>T
c.74-10707A>T (n.74-10707A>T)
c.74-11599A>T (n.74-11599A>T)
dbSNP
10g.43100501A>CCA376770127RETc.116A>C (p.Lys39Thr)
c.18A>C
c.74-10706A>C (n.74-10706A>C)
c.74-11598A>C (n.74-11598A>C)
10g.43100501A>GCA376770128RETc.116A>G (p.Lys39Arg)
c.18A>G
c.74-10706A>G (n.74-10706A>G)
c.74-11598A>G (n.74-11598A>G)
dbSNP
10g.43100501A>TCA376770129RETc.116A>T (p.Lys39Met)
c.18A>T
c.74-10706A>T (n.74-10706A>T)
c.74-11598A>T (n.74-11598A>T)
dbSNP
10g.43100502G>ACA469490376RETc.117G>A (p.Lys39=)
c.19G>A
c.74-10705G>A (n.74-10705G>A)
c.74-11597G>A (n.74-11597G>A)
ClinVar dbSNP
10g.43100502G>CCA376770130RETc.117G>C (p.Lys39Asn)
c.19G>C
c.74-10705G>C (n.74-10705G>C)
c.74-11597G>C (n.74-11597G>C)
dbSNP
10g.43100502G>TCA376770131RETc.117G>T (p.Lys39Asn)
c.19G>T
c.74-10705G>T (n.74-10705G>T)
c.74-11597G>T (n.74-11597G>T)
10g.43100503C>ACA376770132RETc.118C>A (p.Leu40Met)
c.20C>A
c.74-10704C>A (n.74-10704C>A)
c.74-11596C>A (n.74-11596C>A)
10g.43100503C=CA1905836769RETc.118C= (p.Leu40=)
c.20C=
c.74-10704C= (n.74-10704C=)
c.74-11596C= (n.74-11596C=)
10g.43100503C>GCA376770133RETc.118C>G (p.Leu40Val)
c.20C>G
c.74-10704C>G (n.74-10704C>G)
c.74-11596C>G (n.74-11596C>G)
10g.43100503C>TCA032094RETc.118C>T (p.Leu40=)
c.20C>T
c.74-10704C>T (n.74-10704C>T)
c.74-11596C>T (n.74-11596C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.43100504T>ACA376770135RETc.119T>A (p.Leu40Gln)
c.21T>A
c.74-10703T>A (n.74-10703T>A)
c.74-11595T>A (n.74-11595T>A)
dbSNP
10g.43100504T>CCA376770134RETc.119T>C (p.Leu40Pro)
c.21T>C
c.74-10703T>C (n.74-10703T>C)
c.74-11595T>C (n.74-11595T>C)
dbSNP
10g.43100504T>GCA376770136RETc.119T>G (p.Leu40Arg)
c.21T>G
c.74-10703T>G (n.74-10703T>G)
c.74-11595T>G (n.74-11595T>G)
dbSNP
10g.43100505G>ACA469490383RETc.120G>A (p.Leu40=)
c.22G>A
c.74-10702G>A (n.74-10702G>A)
c.74-11594G>A (n.74-11594G>A)
dbSNP
10g.43100505G>CCA469490386RETc.120G>C (p.Leu40=)
c.22G>C
c.74-10702G>C (n.74-10702G>C)
c.74-11594G>C (n.74-11594G>C)
dbSNP
10g.43100505G=CA1905836770RETc.120G= (p.Leu40=)
c.22G=
c.74-10702G= (n.74-10702G=)
c.74-11594G= (n.74-11594G=)
10g.43100505G>TCA469490384RETc.120G>T (p.Leu40=)
c.22G>T
c.74-10702G>T (n.74-10702G>T)
c.74-11594G>T (n.74-11594G>T)
dbSNP gnomAD v2
10g.43100506T>ACA376770137RETc.121T>A (p.Tyr41Asn)
c.23T>A
c.74-10701T>A (n.74-10701T>A)
c.74-11593T>A (n.74-11593T>A)
dbSNP
10g.43100506T>CCA376770139RETc.121T>C (p.Tyr41His)
c.23T>C
c.74-10701T>C (n.74-10701T>C)
c.74-11593T>C (n.74-11593T>C)
dbSNP
10g.43100506T>GCA376770138RETc.121T>G (p.Tyr41Asp)
c.23T>G
c.74-10701T>G (n.74-10701T>G)
c.74-11593T>G (n.74-11593T>G)
dbSNP
10g.43100507A>CCA376770140RETc.122A>C (p.Tyr41Ser)
c.24A>C
c.74-10700A>C (n.74-10700A>C)
c.74-11592A>C (n.74-11592A>C)
10g.43100507A>GCA376770142RETc.122A>G (p.Tyr41Cys)
c.24A>G
c.74-10700A>G (n.74-10700A>G)
c.74-11592A>G (n.74-11592A>G)
dbSNP
10g.43100507A>TCA376770141RETc.122A>T (p.Tyr41Phe)
c.24A>T
c.74-10700A>T (n.74-10700A>T)
c.74-11592A>T (n.74-11592A>T)
ClinVar dbSNP
10g.43100508T>ACA376770143RETc.123T>A (p.Tyr41Ter)
c.25T>A
c.74-10699T>A (n.74-10699T>A)
c.74-11591T>A (n.74-11591T>A)
dbSNP
10g.43100508T>CCA469490391RETc.123T>C (p.Tyr41=)
c.25T>C
c.74-10699T>C (n.74-10699T>C)
c.74-11591T>C (n.74-11591T>C)
ClinVar dbSNP gnomAD v4
10g.43100508T>GCA376770144RETc.123T>G (p.Tyr41Ter)
c.25T>G
c.74-10699T>G (n.74-10699T>G)
c.74-11591T>G (n.74-11591T>G)
10g.43100508T=CA1905836771RETc.123T= (p.Tyr41=)
c.25T=
c.74-10699T= (n.74-10699T=)
c.74-11591T= (n.74-11591T=)
10g.43100509G>ACA376770145RETc.124G>A (p.Val42Met)
c.26G>A
c.74-10698G>A (n.74-10698G>A)
c.74-11590G>A (n.74-11590G>A)
dbSNP
10g.43100509G>CCA376770146RETc.124G>C (p.Val42Leu)
c.26G>C
c.74-10698G>C (n.74-10698G>C)
c.74-11590G>C (n.74-11590G>C)
dbSNP
10g.43100509G>TCA376770147RETc.124G>T (p.Val42Leu)
c.26G>T
c.74-10698G>T (n.74-10698G>T)
c.74-11590G>T (n.74-11590G>T)
ClinVar dbSNP
10g.43100510T>ACA376770148RETc.125T>A (p.Val42Glu)
c.27T>A
c.74-10697T>A (n.74-10697T>A)
c.74-11589T>A (n.74-11589T>A)
10g.43100510T>CCA032341RETc.125T>C (p.Val42Ala)
c.27T>C
c.74-10697T>C (n.74-10697T>C)
c.74-11589T>C (n.74-11589T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100510T>GCA376770149RETc.125T>G (p.Val42Gly)
c.27T>G
c.74-10697T>G (n.74-10697T>G)
c.74-11589T>G (n.74-11589T>G)
10g.43100510T=CA1905836772RETc.125T= (p.Val42=)
c.27T=
c.74-10697T= (n.74-10697T=)
c.74-11589T= (n.74-11589T=)
10g.43100511G>ACA469490399RETc.126G>A (p.Val42=)
c.28G>A
c.74-10696G>A (n.74-10696G>A)
c.74-11588G>A (n.74-11588G>A)
dbSNP COSMIC COSMIC
10g.43100511G>CCA469490401RETc.126G>C (p.Val42=)
c.28G>C
c.74-10696G>C (n.74-10696G>C)
c.74-11588G>C (n.74-11588G>C)
dbSNP
10g.43100511G=CA1905836773RETc.126G= (p.Val42=)
c.28G=
c.74-10696G= (n.74-10696G=)
c.74-11588G= (n.74-11588G=)
10g.43100511G>TCA469490402RETc.126G>T (p.Val42=)
c.28G>T
c.74-10696G>T (n.74-10696G>T)
c.74-11588G>T (n.74-11588G>T)
dbSNP
10g.43100512G>ACA376770150RETc.127G>A (p.Asp43Asn)
c.29G>A
c.74-10695G>A (n.74-10695G>A)
c.74-11587G>A (n.74-11587G>A)
dbSNP
10g.43100512G>CCA376770151RETc.127G>C (p.Asp43His)
c.29G>C
c.74-10695G>C (n.74-10695G>C)
c.74-11587G>C (n.74-11587G>C)
dbSNP
10g.43100512G=CA1905836774RETc.127G= (p.Asp43=)
c.29G=
c.74-10695G= (n.74-10695G=)
c.74-11587G= (n.74-11587G=)
10g.43100512G>TCA376770152RETc.127G>T (p.Asp43Tyr)
c.29G>T
c.74-10695G>T (n.74-10695G>T)
c.74-11587G>T (n.74-11587G>T)
dbSNP
10g.43100513A>CCA376770155RETc.128A>C (p.Asp43Ala)
c.30A>C
c.74-10694A>C (n.74-10694A>C)
c.74-11586A>C (n.74-11586A>C)
dbSNP
10g.43100513A>GCA376770153RETc.128A>G (p.Asp43Gly)
c.30A>G
c.74-10694A>G (n.74-10694A>G)
c.74-11586A>G (n.74-11586A>G)
dbSNP
10g.43100513A>TCA376770154RETc.128A>T (p.Asp43Val)
c.30A>T
c.74-10694A>T (n.74-10694A>T)
c.74-11586A>T (n.74-11586A>T)
10g.43100514C>ACA376770156RETc.129C>A (p.Asp43Glu)
c.31C>A
c.74-10693C>A (n.74-10693C>A)
c.74-11585C>A (n.74-11585C>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43100514C=CA1905836775RETc.129C= (p.Asp43=)
c.31C=
c.74-10693C= (n.74-10693C=)
c.74-11585C= (n.74-11585C=)
10g.43100514C>GCA376770157RETc.129C>G (p.Asp43Glu)
c.31C>G
c.74-10693C>G (n.74-10693C>G)
c.74-11585C>G (n.74-11585C>G)
ClinVar dbSNP
10g.43100514C>TCA469490405RETc.129C>T (p.Asp43=)
c.31C>T
c.74-10693C>T (n.74-10693C>T)
c.74-11585C>T (n.74-11585C>T)
dbSNP
10g.43100515C>ACA376770158RETc.130C>A (p.Gln44Lys)
c.32C>A
c.74-10692C>A (n.74-10692C>A)
c.74-11584C>A (n.74-11584C>A)
10g.43100515C>GCA376770159RETc.130C>G (p.Gln44Glu)
c.32C>G
c.74-10692C>G (n.74-10692C>G)
c.74-11584C>G (n.74-11584C>G)
dbSNP
10g.43100515C>TCA376770160RETc.130C>T (p.Gln44Ter)
c.32C>T
c.74-10692C>T (n.74-10692C>T)
c.74-11584C>T (n.74-11584C>T)
dbSNP
10g.43100516A>CCA376770161RETc.131A>C (p.Gln44Pro)
c.33A>C
c.74-10691A>C (n.74-10691A>C)
c.74-11583A>C (n.74-11583A>C)
dbSNP
10g.43100516A>GCA376770162RETc.131A>G (p.Gln44Arg)
c.33A>G
c.74-10691A>G (n.74-10691A>G)
c.74-11583A>G (n.74-11583A>G)
dbSNP
10g.43100516A>TCA376770163RETc.131A>T (p.Gln44Leu)
c.33A>T
c.74-10691A>T (n.74-10691A>T)
c.74-11583A>T (n.74-11583A>T)
dbSNP
10g.43100517G>ACA469490414RETc.132G>A (p.Gln44=)
c.34G>A
c.74-10690G>A (n.74-10690G>A)
c.74-11582G>A (n.74-11582G>A)
dbSNP
10g.43100517G>CCA376770164RETc.132G>C (p.Gln44His)
c.34G>C
c.74-10690G>C (n.74-10690G>C)
c.74-11582G>C (n.74-11582G>C)
ClinVar dbSNP
10g.43100517G>TCA376770165RETc.132G>T (p.Gln44His)
c.34G>T
c.74-10690G>T (n.74-10690G>T)
c.74-11582G>T (n.74-11582G>T)
dbSNP
10g.43100518G>ACA376770168RETc.133G>A (p.Ala45Thr)
c.35G>A
c.74-10689G>A (n.74-10689G>A)
c.74-11581G>A (n.74-11581G>A)
ClinVar dbSNP
10g.43100518G>CCA376770167RETc.133G>C (p.Ala45Pro)
c.35G>C
c.74-10689G>C (n.74-10689G>C)
c.74-11581G>C (n.74-11581G>C)
dbSNP
10g.43100518G>TCA376770166RETc.133G>T (p.Ala45Ser)
c.35G>T
c.74-10689G>T (n.74-10689G>T)
c.74-11581G>T (n.74-11581G>T)
10g.43100519C>ACA376770169RETc.134C>A (p.Ala45Glu)
c.36C>A
c.74-10688C>A (n.74-10688C>A)
c.74-11580C>A (n.74-11580C>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.43100519C=CA1905836776RETc.134C= (p.Ala45=)
c.36C=
c.74-10688C= (n.74-10688C=)
c.74-11580C= (n.74-11580C=)
10g.43100519C>GCA376770170RETc.134C>G (p.Ala45Gly)
c.36C>G
c.74-10688C>G (n.74-10688C>G)
c.74-11580C>G (n.74-11580C>G)
10g.43100519C>TCA033180RETc.134C>T (p.Ala45Val)
c.36C>T
c.74-10688C>T (n.74-10688C>T)
c.74-11580C>T (n.74-11580C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100519_43100520delinsCACA1905836777RETc.134_135delinsCA (p.Ala45=)
c.36_37delinsCA
c.74-10688_74-10687delinsCA (n.74-10688_74-10687delinsCA)
c.74-11580_74-11579delinsCA (n.74-11580_74-11579delinsCA)
10g.43100519_43100520delinsTGCA1905836778RETc.134_135delinsTG (p.Ala45Val)
c.36_37delinsTG
c.74-10688_74-10687delinsTG (n.74-10688_74-10687delinsTG)
c.74-11580_74-11579delinsTG (n.74-11580_74-11579delinsTG)
dbSNP
10g.43100520A=CA007550RETc.135A= (p.Ala45=)
c.37A=
c.74-10687A= (n.74-10687A=)
c.74-11579A= (n.74-11579A=)
10g.43100520A>CCA469490417RETc.135A>C (p.Ala45=)
c.37A>C
c.74-10687A>C (n.74-10687A>C)
c.74-11579A>C (n.74-11579A>C)
dbSNP
10g.43100520A>GCA009515RETc.135A>G (p.Ala45=)
c.37A>G
c.74-10687A>G (n.74-10687A>G)
c.74-11579A>G (n.74-11579A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100520A>TCA469490418RETc.135A>T (p.Ala45=)
c.37A>T
c.74-10687A>T (n.74-10687A>T)
c.74-11579A>T (n.74-11579A>T)
ClinVar dbSNP
10g.43100520_43100521delinsGTCA2580081468RETc.135_136delinsGT (p.Ala46Ser)
c.37_38delinsGT
c.74-10687_74-10686delinsGT (n.74-10687_74-10686delinsGT)
c.74-11579_74-11578delinsGT (n.74-11579_74-11578delinsGT)
ClinVar
10g.43100521G>ACA376770171RETc.136G>A (p.Ala46Thr)
c.38G>A
c.74-10686G>A (n.74-10686G>A)
c.74-11578G>A (n.74-11578G>A)
dbSNP
10g.43100521G>CCA376770172RETc.136G>C (p.Ala46Pro)
c.38G>C
c.74-10686G>C (n.74-10686G>C)
c.74-11578G>C (n.74-11578G>C)
dbSNP gnomAD v2 gnomAD v4
10g.43100521G=CA1905836779RETc.136G= (p.Ala46=)
c.38G=
c.74-10686G= (n.74-10686G=)
c.74-11578G= (n.74-11578G=)
10g.43100521G>TCA376770173RETc.136G>T (p.Ala46Ser)
c.38G>T
c.74-10686G>T (n.74-10686G>T)
c.74-11578G>T (n.74-11578G>T)
ClinVar dbSNP
10g.43100522C>ACA376770174RETc.137C>A (p.Ala46Asp)
c.39C>A
c.74-10685C>A (n.74-10685C>A)
c.74-11577C>A (n.74-11577C>A)
dbSNP
10g.43100522C=CA1905836780RETc.137C= (p.Ala46=)
c.39C=
c.74-10685C= (n.74-10685C=)
c.74-11577C= (n.74-11577C=)
10g.43100522C>GCA376770175RETc.137C>G (p.Ala46Gly)
c.39C>G
c.74-10685C>G (n.74-10685C>G)
c.74-11577C>G (n.74-11577C>G)
dbSNP
10g.43100522C>TCA376770176RETc.137C>T (p.Ala46Val)
c.39C>T
c.74-10685C>T (n.74-10685C>T)
c.74-11577C>T (n.74-11577C>T)
ClinVar dbSNP
10g.43100523C>ACA469490425RETc.138C>A (p.Ala46=)
c.40C>A
c.74-10684C>A (n.74-10684C>A)
c.74-11576C>A (n.74-11576C>A)
dbSNP
10g.43100523C=CA1905836781RETc.138C= (p.Ala46=)
c.40C=
c.74-10684C= (n.74-10684C=)
c.74-11576C= (n.74-11576C=)
10g.43100523C>GCA469490426RETc.138C>G (p.Ala46=)
c.40C>G
c.74-10684C>G (n.74-10684C>G)
c.74-11576C>G (n.74-11576C>G)
dbSNP
10g.43100523C>TCA469490428RETc.138C>T (p.Ala46=)
c.40C>T
c.74-10684C>T (n.74-10684C>T)
c.74-11576C>T (n.74-11576C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100524G>ACA033463RETc.139G>A (p.Gly47Ser)
c.41G>A
c.74-10683G>A (n.74-10683G>A)
c.74-11575G>A (n.74-11575G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.43100524G>CCA376770178RETc.139G>C (p.Gly47Arg)
c.41G>C
c.74-10683G>C (n.74-10683G>C)
c.74-11575G>C (n.74-11575G>C)
ClinVar dbSNP
10g.43100524G=CA1905836782RETc.139G= (p.Gly47=)
c.41G=
c.74-10683G= (n.74-10683G=)
c.74-11575G= (n.74-11575G=)
10g.43100524G>TCA376770177RETc.139G>T (p.Gly47Cys)
c.41G>T
c.74-10683G>T (n.74-10683G>T)
c.74-11575G>T (n.74-11575G>T)
dbSNP
10g.43100525G>ACA376770179RETc.140G>A (p.Gly47Asp)
c.42G>A
c.74-10682G>A (n.74-10682G>A)
c.74-11574G>A (n.74-11574G>A)
dbSNP
10g.43100525G>CCA376770180RETc.140G>C (p.Gly47Ala)
c.42G>C
c.74-10682G>C (n.74-10682G>C)
c.74-11574G>C (n.74-11574G>C)
dbSNP
10g.43100525G>TCA376770181RETc.140G>T (p.Gly47Val)
c.42G>T
c.74-10682G>T (n.74-10682G>T)
c.74-11574G>T (n.74-11574G>T)
10g.43100526C>ACA469490440RETc.141C>A (p.Gly47=)
c.43C>A
c.74-10681C>A (n.74-10681C>A)
c.74-11573C>A (n.74-11573C>A)
dbSNP
10g.43100526C>GCA469490442RETc.141C>G (p.Gly47=)
c.43C>G
c.74-10681C>G (n.74-10681C>G)
c.74-11573C>G (n.74-11573C>G)
dbSNP
10g.43100526C>TCA469490441RETc.141C>T (p.Gly47=)
c.43C>T
c.74-10681C>T (n.74-10681C>T)
c.74-11573C>T (n.74-11573C>T)
dbSNP
10g.43100527A>CCA376770182RETc.142A>C (p.Thr48Pro)
c.44A>C
c.74-10680A>C (n.74-10680A>C)
c.74-11572A>C (n.74-11572A>C)
dbSNP
10g.43100527A>GCA376770183RETc.142A>G (p.Thr48Ala)
c.44A>G
c.74-10680A>G (n.74-10680A>G)
c.74-11572A>G (n.74-11572A>G)
dbSNP
10g.43100527A>TCA376770184RETc.142A>T (p.Thr48Ser)
c.44A>T
c.74-10680A>T (n.74-10680A>T)
c.74-11572A>T (n.74-11572A>T)
dbSNP
10g.43100528C>ACA376770185RETc.143C>A (p.Thr48Lys)
c.45C>A
c.74-10679C>A (n.74-10679C>A)
c.74-11571C>A (n.74-11571C>A)
10g.43100528C=CA1905836783RETc.143C= (p.Thr48=)
c.45C=
c.74-10679C= (n.74-10679C=)
c.74-11571C= (n.74-11571C=)
10g.43100528C>GCA376770186RETc.143C>G (p.Thr48Arg)
c.45C>G
c.74-10679C>G (n.74-10679C>G)
c.74-11571C>G (n.74-11571C>G)
dbSNP
10g.43100528C>TCA376770187RETc.143C>T (p.Thr48Met)
c.45C>T
c.74-10679C>T (n.74-10679C>T)
c.74-11571C>T (n.74-11571C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.43100529G>ACA033685RETc.144G>A (p.Thr48=)
c.46G>A
c.74-10678G>A (n.74-10678G>A)
c.74-11570G>A (n.74-11570G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.43100529G>CCA469490451RETc.144G>C (p.Thr48=)
c.46G>C
c.74-10678G>C (n.74-10678G>C)
c.74-11570G>C (n.74-11570G>C)
dbSNP
10g.43100529G=CA1905836784RETc.144G= (p.Thr48=)
c.46G=
c.74-10678G= (n.74-10678G=)
c.74-11570G= (n.74-11570G=)
10g.43100529G>TCA469490452RETc.144G>T (p.Thr48=)
c.46G>T
c.74-10678G>T (n.74-10678G>T)
c.74-11570G>T (n.74-11570G>T)
ClinVar dbSNP
10g.43100530C>ACA376770188RETc.145C>A (p.Pro49Thr)
c.47C>A
c.74-10677C>A (n.74-10677C>A)
c.74-11569C>A (n.74-11569C>A)
10g.43100530C>GCA376770189RETc.145C>G (p.Pro49Ala)
c.47C>G
c.74-10677C>G (n.74-10677C>G)
c.74-11569C>G (n.74-11569C>G)
dbSNP
10g.43100530C>TCA376770190RETc.145C>T (p.Pro49Ser)
c.47C>T
c.74-10677C>T (n.74-10677C>T)
c.74-11569C>T (n.74-11569C>T)
dbSNP
10g.43100531C>ACA376770192RETc.146C>A (p.Pro49His)
c.48C>A
c.74-10676C>A (n.74-10676C>A)
c.74-11568C>A (n.74-11568C>A)
10g.43100531C>GCA376770193RETc.146C>G (p.Pro49Arg)
c.48C>G
c.74-10676C>G (n.74-10676C>G)
c.74-11568C>G (n.74-11568C>G)
10g.43100531C>TCA376770191RETc.146C>T (p.Pro49Leu)
c.48C>T
c.74-10676C>T (n.74-10676C>T)
c.74-11568C>T (n.74-11568C>T)

Number of alleles fetched