Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178740480A>CCA430296077TTNn.12240T>G (p.Thr4080=)
n.12039T>G (p.Thr4013=)
c.12240T>G (p.Thr4080=)
c.10361-2120T>G (p.=)
c.12039T>G (p.Thr4013=)
c.11664T>G (p.Thr3888=)
c.12753T>G (p.Thr4251=)
c.11802T>G (p.Thr3934=)
c.11850T>G (p.Thr3950=)
c.11709T>G (p.Thr3903=)
c.11805T>G (p.Thr3935=)
c.10364-2120T>G (p.=)
2g.178740480A>GCA430296078TTNn.12240T>C (p.Thr4080=)
n.12039T>C (p.Thr4013=)
c.12240T>C (p.Thr4080=)
c.10361-2120T>C (p.=)
c.12039T>C (p.Thr4013=)
c.11664T>C (p.Thr3888=)
c.12753T>C (p.Thr4251=)
c.11802T>C (p.Thr3934=)
c.11850T>C (p.Thr3950=)
c.11709T>C (p.Thr3903=)
c.11805T>C (p.Thr3935=)
c.10364-2120T>C (p.=)
2g.178740480A>TCA430296079TTNn.12240T>A (p.Thr4080=)
n.12039T>A (p.Thr4013=)
c.12240T>A (p.Thr4080=)
c.10361-2120T>A (p.=)
c.12039T>A (p.Thr4013=)
c.11664T>A (p.Thr3888=)
c.12753T>A (p.Thr4251=)
c.11802T>A (p.Thr3934=)
c.11850T>A (p.Thr3950=)
c.11709T>A (p.Thr3903=)
c.11805T>A (p.Thr3935=)
c.10364-2120T>A (p.=)
2g.178740481G>ACA349610566TTNn.12239C>T (p.Thr4080Ile)
n.12038C>T (p.Thr4013Ile)
c.12239C>T (p.Thr4080Ile)
c.10361-2121C>T (p.=)
c.12038C>T (p.Thr4013Ile)
c.11663C>T (p.Thr3888Ile)
c.12752C>T (p.Thr4251Ile)
c.11801C>T (p.Thr3934Ile)
c.11849C>T (p.Thr3950Ile)
c.11708C>T (p.Thr3903Ile)
c.11804C>T (p.Thr3935Ile)
c.10364-2121C>T (p.=)
2g.178740481G>CCA349610567TTNn.12239C>G (p.Thr4080Ser)
n.12038C>G (p.Thr4013Ser)
c.12239C>G (p.Thr4080Ser)
c.10361-2121C>G (p.=)
c.12038C>G (p.Thr4013Ser)
c.11663C>G (p.Thr3888Ser)
c.12752C>G (p.Thr4251Ser)
c.11801C>G (p.Thr3934Ser)
c.11849C>G (p.Thr3950Ser)
c.11708C>G (p.Thr3903Ser)
c.11804C>G (p.Thr3935Ser)
c.10364-2121C>G (p.=)
2g.178740481G>TCA349610569TTNn.12239C>A (p.Thr4080Asn)
n.12038C>A (p.Thr4013Asn)
c.12239C>A (p.Thr4080Asn)
c.10361-2121C>A (p.=)
c.12038C>A (p.Thr4013Asn)
c.11663C>A (p.Thr3888Asn)
c.12752C>A (p.Thr4251Asn)
c.11801C>A (p.Thr3934Asn)
c.11849C>A (p.Thr3950Asn)
c.11708C>A (p.Thr3903Asn)
c.11804C>A (p.Thr3935Asn)
c.10364-2121C>A (p.=)
2g.178740482T>ACA349610575TTNn.12238A>T (p.Thr4080Ser)
n.12037A>T (p.Thr4013Ser)
c.12238A>T (p.Thr4080Ser)
c.10361-2122A>T (p.=)
c.12037A>T (p.Thr4013Ser)
c.11662A>T (p.Thr3888Ser)
c.12751A>T (p.Thr4251Ser)
c.11800A>T (p.Thr3934Ser)
c.11848A>T (p.Thr3950Ser)
c.11707A>T (p.Thr3903Ser)
c.11803A>T (p.Thr3935Ser)
c.10364-2122A>T (p.=)
2g.178740482T>CCA349610574TTNn.12238A>G (p.Thr4080Ala)
n.12037A>G (p.Thr4013Ala)
c.12238A>G (p.Thr4080Ala)
c.10361-2122A>G (p.=)
c.12037A>G (p.Thr4013Ala)
c.11662A>G (p.Thr3888Ala)
c.12751A>G (p.Thr4251Ala)
c.11800A>G (p.Thr3934Ala)
c.11848A>G (p.Thr3950Ala)
c.11707A>G (p.Thr3903Ala)
c.11803A>G (p.Thr3935Ala)
c.10364-2122A>G (p.=)
2g.178740482T>GCA349610571TTNn.12238A>C (p.Thr4080Pro)
n.12037A>C (p.Thr4013Pro)
c.12238A>C (p.Thr4080Pro)
c.10361-2122A>C (p.=)
c.12037A>C (p.Thr4013Pro)
c.11662A>C (p.Thr3888Pro)
c.12751A>C (p.Thr4251Pro)
c.11800A>C (p.Thr3934Pro)
c.11848A>C (p.Thr3950Pro)
c.11707A>C (p.Thr3903Pro)
c.11803A>C (p.Thr3935Pro)
c.10364-2122A>C (p.=)
2g.178740483C>ACA430296080TTNn.12237G>T (p.Val4079=)
n.12036G>T (p.Val4012=)
c.12237G>T (p.Val4079=)
c.10361-2123G>T (p.=)
c.12036G>T (p.Val4012=)
c.11661G>T (p.Val3887=)
c.12750G>T (p.Val4250=)
c.11799G>T (p.Val3933=)
c.11847G>T (p.Val3949=)
c.11706G>T (p.Val3902=)
c.11802G>T (p.Val3934=)
c.10364-2123G>T (p.=)
2g.178740483C>GCA430296081TTNn.12237G>C (p.Val4079=)
n.12036G>C (p.Val4012=)
c.12237G>C (p.Val4079=)
c.10361-2123G>C (p.=)
c.12036G>C (p.Val4012=)
c.11661G>C (p.Val3887=)
c.12750G>C (p.Val4250=)
c.11799G>C (p.Val3933=)
c.11847G>C (p.Val3949=)
c.11706G>C (p.Val3902=)
c.11802G>C (p.Val3934=)
c.10364-2123G>C (p.=)
2g.178740483C>TCA430296082TTNn.12237G>A (p.Val4079=)
n.12036G>A (p.Val4012=)
c.12237G>A (p.Val4079=)
c.10361-2123G>A (p.=)
c.12036G>A (p.Val4012=)
c.11661G>A (p.Val3887=)
c.12750G>A (p.Val4250=)
c.11799G>A (p.Val3933=)
c.11847G>A (p.Val3949=)
c.11706G>A (p.Val3902=)
c.11802G>A (p.Val3934=)
c.10364-2123G>A (p.=)
2g.178740484A=CA1310601404TTNn.12236T= (p.Val4079=)
n.12035T= (p.Val4012=)
c.12236T= (p.Val4079=)
c.10361-2124T= (p.=)
c.12035T= (p.Val4012=)
c.11660T= (p.Val3887=)
c.12749T= (p.Val4250=)
c.11798T= (p.Val3933=)
c.11846T= (p.Val3949=)
c.11705T= (p.Val3902=)
c.11801T= (p.Val3934=)
c.10364-2124T= (p.=)
2g.178740484A>CCA349610577TTNn.12236T>G (p.Val4079Gly)
n.12035T>G (p.Val4012Gly)
c.12236T>G (p.Val4079Gly)
c.10361-2124T>G (p.=)
c.12035T>G (p.Val4012Gly)
c.11660T>G (p.Val3887Gly)
c.12749T>G (p.Val4250Gly)
c.11798T>G (p.Val3933Gly)
c.11846T>G (p.Val3949Gly)
c.11705T>G (p.Val3902Gly)
c.11801T>G (p.Val3934Gly)
c.10364-2124T>G (p.=)
2g.178740484A>GCA349610583TTNn.12236T>C (p.Val4079Ala)
n.12035T>C (p.Val4012Ala)
c.12236T>C (p.Val4079Ala)
c.10361-2124T>C (p.=)
c.12035T>C (p.Val4012Ala)
c.11660T>C (p.Val3887Ala)
c.12749T>C (p.Val4250Ala)
c.11798T>C (p.Val3933Ala)
c.11846T>C (p.Val3949Ala)
c.11705T>C (p.Val3902Ala)
c.11801T>C (p.Val3934Ala)
c.10364-2124T>C (p.=)
ClinVar
2g.178740484A>TCA349610584TTNn.12236T>A (p.Val4079Glu)
n.12035T>A (p.Val4012Glu)
c.12236T>A (p.Val4079Glu)
c.10361-2124T>A (p.=)
c.12035T>A (p.Val4012Glu)
c.11660T>A (p.Val3887Glu)
c.12749T>A (p.Val4250Glu)
c.11798T>A (p.Val3933Glu)
c.11846T>A (p.Val3949Glu)
c.11705T>A (p.Val3902Glu)
c.11801T>A (p.Val3934Glu)
c.10364-2124T>A (p.=)
2g.178740485C>ACA349610586TTNn.12235G>T (p.Val4079Leu)
n.12034G>T (p.Val4012Leu)
c.12235G>T (p.Val4079Leu)
c.10361-2125G>T (p.=)
c.12034G>T (p.Val4012Leu)
c.11659G>T (p.Val3887Leu)
c.12748G>T (p.Val4250Leu)
c.11797G>T (p.Val3933Leu)
c.11845G>T (p.Val3949Leu)
c.11704G>T (p.Val3902Leu)
c.11800G>T (p.Val3934Leu)
c.10364-2125G>T (p.=)
2g.178740485C=CA1310601406TTNn.12235G= (p.Val4079=)
n.12034G= (p.Val4012=)
c.12235G= (p.Val4079=)
c.10361-2125G= (p.=)
c.12034G= (p.Val4012=)
c.11659G= (p.Val3887=)
c.12748G= (p.Val4250=)
c.11797G= (p.Val3933=)
c.11845G= (p.Val3949=)
c.11704G= (p.Val3902=)
c.11800G= (p.Val3934=)
c.10364-2125G= (p.=)
2g.178740485C>GCA349610587TTNn.12235G>C (p.Val4079Leu)
n.12034G>C (p.Val4012Leu)
c.12235G>C (p.Val4079Leu)
c.10361-2125G>C (p.=)
c.12034G>C (p.Val4012Leu)
c.11659G>C (p.Val3887Leu)
c.12748G>C (p.Val4250Leu)
c.11797G>C (p.Val3933Leu)
c.11845G>C (p.Val3949Leu)
c.11704G>C (p.Val3902Leu)
c.11800G>C (p.Val3934Leu)
c.10364-2125G>C (p.=)
2g.178740485C>TCA181936TTNn.12235G>A (p.Val4079Met)
n.12034G>A (p.Val4012Met)
c.12235G>A (p.Val4079Met)
c.10361-2125G>A (p.=)
c.12034G>A (p.Val4012Met)
c.11659G>A (p.Val3887Met)
c.12748G>A (p.Val4250Met)
c.11797G>A (p.Val3933Met)
c.11845G>A (p.Val3949Met)
c.11704G>A (p.Val3902Met)
c.11800G>A (p.Val3934Met)
c.10364-2125G>A (p.=)
ClinVar dbSNP ExAC gnomAD
2g.178740486T>ACA349610590TTNn.12234A>T (p.Arg4078Ser)
n.12033A>T (p.Arg4011Ser)
c.12234A>T (p.Arg4078Ser)
c.10361-2126A>T (p.=)
c.12033A>T (p.Arg4011Ser)
c.11658A>T (p.Arg3886Ser)
c.12747A>T (p.Arg4249Ser)
c.11796A>T (p.Arg3932Ser)
c.11844A>T (p.Arg3948Ser)
c.11703A>T (p.Arg3901Ser)
c.11799A>T (p.Arg3933Ser)
c.10364-2126A>T (p.=)
2g.178740486T>CCA430296083TTNn.12234A>G (p.Arg4078=)
n.12033A>G (p.Arg4011=)
c.12234A>G (p.Arg4078=)
c.10361-2126A>G (p.=)
c.12033A>G (p.Arg4011=)
c.11658A>G (p.Arg3886=)
c.12747A>G (p.Arg4249=)
c.11796A>G (p.Arg3932=)
c.11844A>G (p.Arg3948=)
c.11703A>G (p.Arg3901=)
c.11799A>G (p.Arg3933=)
c.10364-2126A>G (p.=)
2g.178740486T>GCA349610591TTNn.12234A>C (p.Arg4078Ser)
n.12033A>C (p.Arg4011Ser)
c.12234A>C (p.Arg4078Ser)
c.10361-2126A>C (p.=)
c.12033A>C (p.Arg4011Ser)
c.11658A>C (p.Arg3886Ser)
c.12747A>C (p.Arg4249Ser)
c.11796A>C (p.Arg3932Ser)
c.11844A>C (p.Arg3948Ser)
c.11703A>C (p.Arg3901Ser)
c.11799A>C (p.Arg3933Ser)
c.10364-2126A>C (p.=)
2g.178740487C>ACA349610594TTNn.12233G>T (p.Arg4078Ile)
n.12032G>T (p.Arg4011Ile)
c.12233G>T (p.Arg4078Ile)
c.10361-2127G>T (p.=)
c.12032G>T (p.Arg4011Ile)
c.11657G>T (p.Arg3886Ile)
c.12746G>T (p.Arg4249Ile)
c.11795G>T (p.Arg3932Ile)
c.11843G>T (p.Arg3948Ile)
c.11702G>T (p.Arg3901Ile)
c.11798G>T (p.Arg3933Ile)
c.10364-2127G>T (p.=)
2g.178740487C>GCA349610595TTNn.12233G>C (p.Arg4078Thr)
n.12032G>C (p.Arg4011Thr)
c.12233G>C (p.Arg4078Thr)
c.10361-2127G>C (p.=)
c.12032G>C (p.Arg4011Thr)
c.11657G>C (p.Arg3886Thr)
c.12746G>C (p.Arg4249Thr)
c.11795G>C (p.Arg3932Thr)
c.11843G>C (p.Arg3948Thr)
c.11702G>C (p.Arg3901Thr)
c.11798G>C (p.Arg3933Thr)
c.10364-2127G>C (p.=)
2g.178740487C>TCA349610596TTNn.12233G>A (p.Arg4078Lys)
n.12032G>A (p.Arg4011Lys)
c.12233G>A (p.Arg4078Lys)
c.10361-2127G>A (p.=)
c.12032G>A (p.Arg4011Lys)
c.11657G>A (p.Arg3886Lys)
c.12746G>A (p.Arg4249Lys)
c.11795G>A (p.Arg3932Lys)
c.11843G>A (p.Arg3948Lys)
c.11702G>A (p.Arg3901Lys)
c.11798G>A (p.Arg3933Lys)
c.10364-2127G>A (p.=)
2g.178740488T>ACA349610598TTNn.12232A>T (p.Arg4078Ter)
n.12031A>T (p.Arg4011Ter)
c.12232A>T (p.Arg4078Ter)
c.10361-2128A>T (p.=)
c.12031A>T (p.Arg4011Ter)
c.11656A>T (p.Arg3886Ter)
c.12745A>T (p.Arg4249Ter)
c.11794A>T (p.Arg3932Ter)
c.11842A>T (p.Arg3948Ter)
c.11701A>T (p.Arg3901Ter)
c.11797A>T (p.Arg3933Ter)
c.10364-2128A>T (p.=)
2g.178740488T>CCA349610599TTNn.12232A>G (p.Arg4078Gly)
n.12031A>G (p.Arg4011Gly)
c.12232A>G (p.Arg4078Gly)
c.10361-2128A>G (p.=)
c.12031A>G (p.Arg4011Gly)
c.11656A>G (p.Arg3886Gly)
c.12745A>G (p.Arg4249Gly)
c.11794A>G (p.Arg3932Gly)
c.11842A>G (p.Arg3948Gly)
c.11701A>G (p.Arg3901Gly)
c.11797A>G (p.Arg3933Gly)
c.10364-2128A>G (p.=)
2g.178740488T>GCA430296084TTNn.12232A>C (p.Arg4078=)
n.12031A>C (p.Arg4011=)
c.12232A>C (p.Arg4078=)
c.10361-2128A>C (p.=)
c.12031A>C (p.Arg4011=)
c.11656A>C (p.Arg3886=)
c.12745A>C (p.Arg4249=)
c.11794A>C (p.Arg3932=)
c.11842A>C (p.Arg3948=)
c.11701A>C (p.Arg3901=)
c.11797A>C (p.Arg3933=)
c.10364-2128A>C (p.=)
2g.178740489T>ACA349610604TTNn.12231A>T (p.Gln4077His)
n.12030A>T (p.Gln4010His)
c.12231A>T (p.Gln4077His)
c.10361-2129A>T (p.=)
c.12030A>T (p.Gln4010His)
c.11655A>T (p.Gln3885His)
c.12744A>T (p.Gln4248His)
c.11793A>T (p.Gln3931His)
c.11841A>T (p.Gln3947His)
c.11700A>T (p.Gln3900His)
c.11796A>T (p.Gln3932His)
c.10364-2129A>T (p.=)
2g.178740489T>CCA60984074TTNn.12231A>G (p.Gln4077=)
n.12030A>G (p.Gln4010=)
c.12231A>G (p.Gln4077=)
c.10361-2129A>G (p.=)
c.12030A>G (p.Gln4010=)
c.11655A>G (p.Gln3885=)
c.12744A>G (p.Gln4248=)
c.11793A>G (p.Gln3931=)
c.11841A>G (p.Gln3947=)
c.11700A>G (p.Gln3900=)
c.11796A>G (p.Gln3932=)
c.10364-2129A>G (p.=)
dbSNP gnomAD
2g.178740489T>GCA349610602TTNn.12231A>C (p.Gln4077His)
n.12030A>C (p.Gln4010His)
c.12231A>C (p.Gln4077His)
c.10361-2129A>C (p.=)
c.12030A>C (p.Gln4010His)
c.11655A>C (p.Gln3885His)
c.12744A>C (p.Gln4248His)
c.11793A>C (p.Gln3931His)
c.11841A>C (p.Gln3947His)
c.11700A>C (p.Gln3900His)
c.11796A>C (p.Gln3932His)
c.10364-2129A>C (p.=)
2g.178740489T=CA1310601408TTNn.12231A= (p.Gln4077=)
n.12030A= (p.Gln4010=)
c.12231A= (p.Gln4077=)
c.10361-2129A= (p.=)
c.12030A= (p.Gln4010=)
c.11655A= (p.Gln3885=)
c.12744A= (p.Gln4248=)
c.11793A= (p.Gln3931=)
c.11841A= (p.Gln3947=)
c.11700A= (p.Gln3900=)
c.11796A= (p.Gln3932=)
c.10364-2129A= (p.=)
2g.178740490T>ACA349610607TTNn.12230A>T (p.Gln4077Leu)
n.12029A>T (p.Gln4010Leu)
c.12230A>T (p.Gln4077Leu)
c.10361-2130A>T (p.=)
c.12029A>T (p.Gln4010Leu)
c.11654A>T (p.Gln3885Leu)
c.12743A>T (p.Gln4248Leu)
c.11792A>T (p.Gln3931Leu)
c.11840A>T (p.Gln3947Leu)
c.11699A>T (p.Gln3900Leu)
c.11795A>T (p.Gln3932Leu)
c.10364-2130A>T (p.=)
2g.178740490T>CCA2002676TTNn.12230A>G (p.Gln4077Arg)
n.12029A>G (p.Gln4010Arg)
c.12230A>G (p.Gln4077Arg)
c.10361-2130A>G (p.=)
c.12029A>G (p.Gln4010Arg)
c.11654A>G (p.Gln3885Arg)
c.12743A>G (p.Gln4248Arg)
c.11792A>G (p.Gln3931Arg)
c.11840A>G (p.Gln3947Arg)
c.11699A>G (p.Gln3900Arg)
c.11795A>G (p.Gln3932Arg)
c.10364-2130A>G (p.=)
dbSNP ExAC gnomAD
2g.178740490T>GCA238159TTNn.12230A>C (p.Gln4077Pro)
n.12029A>C (p.Gln4010Pro)
c.12230A>C (p.Gln4077Pro)
c.10361-2130A>C (p.=)
c.12029A>C (p.Gln4010Pro)
c.11654A>C (p.Gln3885Pro)
c.12743A>C (p.Gln4248Pro)
c.11792A>C (p.Gln3931Pro)
c.11840A>C (p.Gln3947Pro)
c.11699A>C (p.Gln3900Pro)
c.11795A>C (p.Gln3932Pro)
c.10364-2130A>C (p.=)
ClinVar dbSNP ExAC gnomAD
2g.178740490T=CA1310601410TTNn.12230A= (p.Gln4077=)
n.12029A= (p.Gln4010=)
c.12230A= (p.Gln4077=)
c.10361-2130A= (p.=)
c.12029A= (p.Gln4010=)
c.11654A= (p.Gln3885=)
c.12743A= (p.Gln4248=)
c.11792A= (p.Gln3931=)
c.11840A= (p.Gln3947=)
c.11699A= (p.Gln3900=)
c.11795A= (p.Gln3932=)
c.10364-2130A= (p.=)
2g.178740491G>ACA309383TTNn.12229C>T (p.Gln4077Ter)
n.12028C>T (p.Gln4010Ter)
c.12229C>T (p.Gln4077Ter)
c.10361-2131C>T (p.=)
c.12028C>T (p.Gln4010Ter)
c.11653C>T (p.Gln3885Ter)
c.12742C>T (p.Gln4248Ter)
c.11791C>T (p.Gln3931Ter)
c.11839C>T (p.Gln3947Ter)
c.11698C>T (p.Gln3900Ter)
c.11794C>T (p.Gln3932Ter)
c.10364-2131C>T (p.=)
ClinVar dbSNP gnomAD
2g.178740491G>CCA349610612TTNn.12229C>G (p.Gln4077Glu)
n.12028C>G (p.Gln4010Glu)
c.12229C>G (p.Gln4077Glu)
c.10361-2131C>G (p.=)
c.12028C>G (p.Gln4010Glu)
c.11653C>G (p.Gln3885Glu)
c.12742C>G (p.Gln4248Glu)
c.11791C>G (p.Gln3931Glu)
c.11839C>G (p.Gln3947Glu)
c.11698C>G (p.Gln3900Glu)
c.11794C>G (p.Gln3932Glu)
c.10364-2131C>G (p.=)
2g.178740491G=CA1310601413TTNn.12229C= (p.Gln4077=)
n.12028C= (p.Gln4010=)
c.12229C= (p.Gln4077=)
c.10361-2131C= (p.=)
c.12028C= (p.Gln4010=)
c.11653C= (p.Gln3885=)
c.12742C= (p.Gln4248=)
c.11791C= (p.Gln3931=)
c.11839C= (p.Gln3947=)
c.11698C= (p.Gln3900=)
c.11794C= (p.Gln3932=)
c.10364-2131C= (p.=)
2g.178740491G>TCA60984092TTNn.12229C>A (p.Gln4077Lys)
n.12028C>A (p.Gln4010Lys)
c.12229C>A (p.Gln4077Lys)
c.10361-2131C>A (p.=)
c.12028C>A (p.Gln4010Lys)
c.11653C>A (p.Gln3885Lys)
c.12742C>A (p.Gln4248Lys)
c.11791C>A (p.Gln3931Lys)
c.11839C>A (p.Gln3947Lys)
c.11698C>A (p.Gln3900Lys)
c.11794C>A (p.Gln3932Lys)
c.10364-2131C>A (p.=)
dbSNP
2g.178740492C>ACA349610615TTNn.12228G>T (p.Glu4076Asp)
n.12027G>T (p.Glu4009Asp)
c.12228G>T (p.Glu4076Asp)
c.10361-2132G>T (p.=)
c.12027G>T (p.Glu4009Asp)
c.11652G>T (p.Glu3884Asp)
c.12741G>T (p.Glu4247Asp)
c.11790G>T (p.Glu3930Asp)
c.11838G>T (p.Glu3946Asp)
c.11697G>T (p.Glu3899Asp)
c.11793G>T (p.Glu3931Asp)
c.10364-2132G>T (p.=)
2g.178740492C=CA1310601415TTNn.12228G= (p.Glu4076=)
n.12027G= (p.Glu4009=)
c.12228G= (p.Glu4076=)
c.10361-2132G= (p.=)
c.12027G= (p.Glu4009=)
c.11652G= (p.Glu3884=)
c.12741G= (p.Glu4247=)
c.11790G= (p.Glu3930=)
c.11838G= (p.Glu3946=)
c.11697G= (p.Glu3899=)
c.11793G= (p.Glu3931=)
c.10364-2132G= (p.=)
2g.178740492C>GCA349610617TTNn.12228G>C (p.Glu4076Asp)
n.12027G>C (p.Glu4009Asp)
c.12228G>C (p.Glu4076Asp)
c.10361-2132G>C (p.=)
c.12027G>C (p.Glu4009Asp)
c.11652G>C (p.Glu3884Asp)
c.12741G>C (p.Glu4247Asp)
c.11790G>C (p.Glu3930Asp)
c.11838G>C (p.Glu3946Asp)
c.11697G>C (p.Glu3899Asp)
c.11793G>C (p.Glu3931Asp)
c.10364-2132G>C (p.=)
2g.178740492C>TCA16604240TTNn.12228G>A (p.Glu4076=)
n.12027G>A (p.Glu4009=)
c.12228G>A (p.Glu4076=)
c.10361-2132G>A (p.=)
c.12027G>A (p.Glu4009=)
c.11652G>A (p.Glu3884=)
c.12741G>A (p.Glu4247=)
c.11790G>A (p.Glu3930=)
c.11838G>A (p.Glu3946=)
c.11697G>A (p.Glu3899=)
c.11793G>A (p.Glu3931=)
c.10364-2132G>A (p.=)
ClinVar dbSNP
2g.178740493T>ACA349610620TTNn.12227A>T (p.Glu4076Val)
n.12026A>T (p.Glu4009Val)
c.12227A>T (p.Glu4076Val)
c.10361-2133A>T (p.=)
c.12026A>T (p.Glu4009Val)
c.11651A>T (p.Glu3884Val)
c.12740A>T (p.Glu4247Val)
c.11789A>T (p.Glu3930Val)
c.11837A>T (p.Glu3946Val)
c.11696A>T (p.Glu3899Val)
c.11792A>T (p.Glu3931Val)
c.10364-2133A>T (p.=)
2g.178740493T>CCA60984099TTNn.12227A>G (p.Glu4076Gly)
n.12026A>G (p.Glu4009Gly)
c.12227A>G (p.Glu4076Gly)
c.10361-2133A>G (p.=)
c.12026A>G (p.Glu4009Gly)
c.11651A>G (p.Glu3884Gly)
c.12740A>G (p.Glu4247Gly)
c.11789A>G (p.Glu3930Gly)
c.11837A>G (p.Glu3946Gly)
c.11696A>G (p.Glu3899Gly)
c.11792A>G (p.Glu3931Gly)
c.10364-2133A>G (p.=)
ClinVar dbSNP gnomAD
2g.178740493T>GCA349610622TTNn.12227A>C (p.Glu4076Ala)
n.12026A>C (p.Glu4009Ala)
c.12227A>C (p.Glu4076Ala)
c.10361-2133A>C (p.=)
c.12026A>C (p.Glu4009Ala)
c.11651A>C (p.Glu3884Ala)
c.12740A>C (p.Glu4247Ala)
c.11789A>C (p.Glu3930Ala)
c.11837A>C (p.Glu3946Ala)
c.11696A>C (p.Glu3899Ala)
c.11792A>C (p.Glu3931Ala)
c.10364-2133A>C (p.=)
2g.178740493T=CA1310601416TTNn.12227A= (p.Glu4076=)
n.12026A= (p.Glu4009=)
c.12227A= (p.Glu4076=)
c.10361-2133A= (p.=)
c.12026A= (p.Glu4009=)
c.11651A= (p.Glu3884=)
c.12740A= (p.Glu4247=)
c.11789A= (p.Glu3930=)
c.11837A= (p.Glu3946=)
c.11696A= (p.Glu3899=)
c.11792A= (p.Glu3931=)
c.10364-2133A= (p.=)
2g.178740494C>ACA349610627TTNn.12226G>T (p.Glu4076Ter)
n.12025G>T (p.Glu4009Ter)
c.12226G>T (p.Glu4076Ter)
c.10361-2134G>T (p.=)
c.12025G>T (p.Glu4009Ter)
c.11650G>T (p.Glu3884Ter)
c.12739G>T (p.Glu4247Ter)
c.11788G>T (p.Glu3930Ter)
c.11836G>T (p.Glu3946Ter)
c.11695G>T (p.Glu3899Ter)
c.11791G>T (p.Glu3931Ter)
c.10364-2134G>T (p.=)

Number of alleles fetched