Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.131583810C>ACA452153320ARG1,MED23c.871C>A (p.Arg291=)
c.613C>A (p.Arg205=)
c.817C>A (p.Arg273=)
c.*758C>A (n.*758C>A)
c.616C>A (p.Arg206=)
c.4095+3899G>T (n.4095+3899G>T)
c.895C>A (p.Arg299=)
c.4077+3899G>T (n.4077+3899G>T)
n.855C>A
6g.131583810C=CA1664137844ARG1,MED23c.871C= (p.Arg291=)
c.613C= (p.Arg205=)
c.817C= (p.Arg273=)
c.*758C= (n.*758C=)
c.616C= (p.Arg206=)
c.4095+3899G= (n.4095+3899G=)
c.895C= (p.Arg299=)
c.4077+3899G= (n.4077+3899G=)
n.855C=
6g.131583810C>GCA365653618ARG1,MED23c.871C>G (p.Arg291Gly)
c.613C>G (p.Arg205Gly)
c.817C>G (p.Arg273Gly)
c.*758C>G (n.*758C>G)
c.616C>G (p.Arg206Gly)
c.4095+3899G>C (n.4095+3899G>C)
c.895C>G (p.Arg299Gly)
c.4077+3899G>C (n.4077+3899G>C)
n.855C>G
6g.131583810C>TCA339968ARG1,MED23c.871C>T (p.Arg291Ter)
c.613C>T (p.Arg205Ter)
c.817C>T (p.Arg273Ter)
c.*758C>T (n.*758C>T)
c.616C>T (p.Arg206Ter)
c.4095+3899G>A (n.4095+3899G>A)
c.895C>T (p.Arg299Ter)
c.4077+3899G>A (n.4077+3899G>A)
n.855C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131583811G>ACA3999394ARG1,MED23c.872G>A (p.Arg291Gln)
c.614G>A (p.Arg205Gln)
c.818G>A (p.Arg273Gln)
c.*759G>A (n.*759G>A)
c.617G>A (p.Arg206Gln)
c.4095+3898C>T (n.4095+3898C>T)
c.896G>A (p.Arg299Gln)
c.4077+3898C>T (n.4077+3898C>T)
n.856G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131583811G>CCA3999396ARG1,MED23c.872G>C (p.Arg291Pro)
c.614G>C (p.Arg205Pro)
c.818G>C (p.Arg273Pro)
c.*759G>C (n.*759G>C)
c.617G>C (p.Arg206Pro)
c.4095+3898C>G (n.4095+3898C>G)
c.896G>C (p.Arg299Pro)
c.4077+3898C>G (n.4077+3898C>G)
n.856G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.131583811G=CA1664137849ARG1,MED23c.872G= (p.Arg291=)
c.614G= (p.Arg205=)
c.818G= (p.Arg273=)
c.*759G= (n.*759G=)
c.617G= (p.Arg206=)
c.4095+3898C= (n.4095+3898C=)
c.896G= (p.Arg299=)
c.4077+3898C= (n.4077+3898C=)
n.856G=
6g.131583811G>TCA365653619ARG1,MED23c.872G>T (p.Arg291Leu)
c.614G>T (p.Arg205Leu)
c.818G>T (p.Arg273Leu)
c.*759G>T (n.*759G>T)
c.617G>T (p.Arg206Leu)
c.4095+3898C>A (n.4095+3898C>A)
c.896G>T (p.Arg299Leu)
c.4077+3898C>A (n.4077+3898C>A)
n.856G>T
 gnomAD v4
6g.131583811_131583812delCA913109529ARG1,MED23c.872_873del (p.Arg291HisfsTer20)
c.614_615del (p.Arg205HisfsTer20)
c.818_819del (p.Arg273HisfsTer20)
c.*759_*760del (n.*759_*760del)
c.617_618del (p.Arg206HisfsTer20)
c.4095+3897_4095+3898del (n.4095+3897_4095+3898del)
c.896_897del (p.Arg299HisfsTer20)
c.4077+3897_4077+3898del (n.4077+3897_4077+3898del)
n.856_857del
6g.131583811_131583812delinsGACA1664137850ARG1,MED23c.872_873delinsGA (p.Arg291=)
c.614_615delinsGA (p.Arg205=)
c.818_819delinsGA (p.Arg273=)
c.*759_*760delinsGA (n.*759_*760delinsGA)
c.617_618delinsGA (p.Arg206=)
c.4095+3897_4095+3898delinsTC (n.4095+3897_4095+3898delinsTC)
c.896_897delinsGA (p.Arg299=)
c.4077+3897_4077+3898delinsTC (n.4077+3897_4077+3898delinsTC)
n.856_857delinsGA
6g.131583812A>CCA452153323ARG1,MED23c.873A>C (p.Arg291=)
c.615A>C (p.Arg205=)
c.819A>C (p.Arg273=)
c.*760A>C (n.*760A>C)
c.618A>C (p.Arg206=)
c.4095+3897T>G (n.4095+3897T>G)
c.897A>C (p.Arg299=)
c.4077+3897T>G (n.4077+3897T>G)
n.857A>C
6g.131583812A>GCA452153321ARG1,MED23c.873A>G (p.Arg291=)
c.615A>G (p.Arg205=)
c.819A>G (p.Arg273=)
c.*760A>G (n.*760A>G)
c.618A>G (p.Arg206=)
c.4095+3897T>C (n.4095+3897T>C)
c.897A>G (p.Arg299=)
c.4077+3897T>C (n.4077+3897T>C)
n.857A>G
6g.131583812A>TCA452153322ARG1,MED23c.873A>T (p.Arg291=)
c.615A>T (p.Arg205=)
c.819A>T (p.Arg273=)
c.*760A>T (n.*760A>T)
c.618A>T (p.Arg206=)
c.4095+3897T>A (n.4095+3897T>A)
c.897A>T (p.Arg299=)
c.4077+3897T>A (n.4077+3897T>A)
n.857A>T
6g.131583813delCA3999395ARG1,MED23c.874del (p.Thr292GlnfsTer2)
c.616del (p.Thr206GlnfsTer2)
c.820del (p.Thr274GlnfsTer2)
c.*761del (n.*761del)
c.619del (p.Thr207GlnfsTer2)
c.4095+3897del (n.4095+3897del)
c.898del (p.Thr300GlnfsTer2)
c.4077+3897del (n.4077+3897del)
n.858del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.131583813A>CCA365653620ARG1,MED23c.874A>C (p.Thr292Pro)
c.616A>C (p.Thr206Pro)
c.820A>C (p.Thr274Pro)
c.*761A>C (n.*761A>C)
c.619A>C (p.Thr207Pro)
c.4095+3896T>G (n.4095+3896T>G)
c.898A>C (p.Thr300Pro)
c.4077+3896T>G (n.4077+3896T>G)
n.858A>C
6g.131583813A>GCA365653621ARG1,MED23c.874A>G (p.Thr292Ala)
c.616A>G (p.Thr206Ala)
c.820A>G (p.Thr274Ala)
c.*761A>G (n.*761A>G)
c.619A>G (p.Thr207Ala)
c.4095+3896T>C (n.4095+3896T>C)
c.898A>G (p.Thr300Ala)
c.4077+3896T>C (n.4077+3896T>C)
n.858A>G
6g.131583813A>TCA365653622ARG1,MED23c.874A>T (p.Thr292Ser)
c.616A>T (p.Thr206Ser)
c.820A>T (p.Thr274Ser)
c.*761A>T (n.*761A>T)
c.619A>T (p.Thr207Ser)
c.4095+3896T>A (n.4095+3896T>A)
c.898A>T (p.Thr300Ser)
c.4077+3896T>A (n.4077+3896T>A)
n.858A>T
6g.131583814C>ACA365653623ARG1,MED23c.875C>A (p.Thr292Lys)
c.617C>A (p.Thr206Lys)
c.821C>A (p.Thr274Lys)
c.*762C>A (n.*762C>A)
c.620C>A (p.Thr207Lys)
c.4095+3895G>T (n.4095+3895G>T)
c.899C>A (p.Thr300Lys)
c.4077+3895G>T (n.4077+3895G>T)
n.859C>A
6g.131583814C>GCA365653624ARG1,MED23c.875C>G (p.Thr292Arg)
c.617C>G (p.Thr206Arg)
c.821C>G (p.Thr274Arg)
c.*762C>G (n.*762C>G)
c.620C>G (p.Thr207Arg)
c.4095+3895G>C (n.4095+3895G>C)
c.899C>G (p.Thr300Arg)
c.4077+3895G>C (n.4077+3895G>C)
n.859C>G
 ClinVar dbSNP
6g.131583814C>TCA365653625ARG1,MED23c.875C>T (p.Thr292Ile)
c.617C>T (p.Thr206Ile)
c.821C>T (p.Thr274Ile)
c.*762C>T (n.*762C>T)
c.620C>T (p.Thr207Ile)
c.4095+3895G>A (n.4095+3895G>A)
c.899C>T (p.Thr300Ile)
c.4077+3895G>A (n.4077+3895G>A)
n.859C>T
 gnomAD v4 COSMIC
6g.131583815A>CCA452153324ARG1,MED23c.876A>C (p.Thr292=)
c.618A>C (p.Thr206=)
c.822A>C (p.Thr274=)
c.*763A>C (n.*763A>C)
c.621A>C (p.Thr207=)
c.4095+3894T>G (n.4095+3894T>G)
c.900A>C (p.Thr300=)
c.4077+3894T>G (n.4077+3894T>G)
n.860A>C
6g.131583815A>GCA452153325ARG1,MED23c.876A>G (p.Thr292=)
c.618A>G (p.Thr206=)
c.822A>G (p.Thr274=)
c.*763A>G (n.*763A>G)
c.621A>G (p.Thr207=)
c.4095+3894T>C (n.4095+3894T>C)
c.900A>G (p.Thr300=)
c.4077+3894T>C (n.4077+3894T>C)
n.860A>G
 ClinVar
6g.131583815A>TCA452153326ARG1,MED23c.876A>T (p.Thr292=)
c.618A>T (p.Thr206=)
c.822A>T (p.Thr274=)
c.*763A>T (n.*763A>T)
c.621A>T (p.Thr207=)
c.4095+3894T>A (n.4095+3894T>A)
c.900A>T (p.Thr300=)
c.4077+3894T>A (n.4077+3894T>A)
n.860A>T
 ClinVar
6g.131583816delCA2695207017ARG1,MED23c.877del (p.Val293Ter)
c.619del (p.Val207Ter)
c.823del (p.Val275Ter)
c.*764del (n.*764del)
c.622del (p.Val208Ter)
c.4095+3893del (n.4095+3893del)
c.901del (p.Val301Ter)
c.4077+3893del (n.4077+3893del)
n.861del
 ClinVar
6g.131583816G>ACA365653626ARG1,MED23c.877G>A (p.Val293Met)
c.619G>A (p.Val207Met)
c.823G>A (p.Val275Met)
c.*764G>A (n.*764G>A)
c.622G>A (p.Val208Met)
c.4095+3893C>T (n.4095+3893C>T)
c.901G>A (p.Val301Met)
c.4077+3893C>T (n.4077+3893C>T)
n.861G>A
6g.131583816G>CCA3999397ARG1,MED23c.877G>C (p.Val293Leu)
c.619G>C (p.Val207Leu)
c.823G>C (p.Val275Leu)
c.*764G>C (n.*764G>C)
c.622G>C (p.Val208Leu)
c.4095+3893C>G (n.4095+3893C>G)
c.901G>C (p.Val301Leu)
c.4077+3893C>G (n.4077+3893C>G)
n.861G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.131583816G=CA1664137857ARG1,MED23c.877G= (p.Val293=)
c.619G= (p.Val207=)
c.823G= (p.Val275=)
c.*764G= (n.*764G=)
c.622G= (p.Val208=)
c.4095+3893C= (n.4095+3893C=)
c.901G= (p.Val301=)
c.4077+3893C= (n.4077+3893C=)
n.861G=
6g.131583816G>TCA365653627ARG1,MED23c.877G>T (p.Val293Leu)
c.619G>T (p.Val207Leu)
c.823G>T (p.Val275Leu)
c.*764G>T (n.*764G>T)
c.622G>T (p.Val208Leu)
c.4095+3893C>A (n.4095+3893C>A)
c.901G>T (p.Val301Leu)
c.4077+3893C>A (n.4077+3893C>A)
n.861G>T
6g.131583817T>ACA365653630ARG1,MED23c.878T>A (p.Val293Glu)
c.620T>A (p.Val207Glu)
c.824T>A (p.Val275Glu)
c.*765T>A (n.*765T>A)
c.623T>A (p.Val208Glu)
c.4095+3892A>T (n.4095+3892A>T)
c.902T>A (p.Val301Glu)
c.4077+3892A>T (n.4077+3892A>T)
n.862T>A
 dbSNP gnomAD v4
6g.131583817T>CCA365653628ARG1,MED23c.878T>C (p.Val293Ala)
c.620T>C (p.Val207Ala)
c.824T>C (p.Val275Ala)
c.*765T>C (n.*765T>C)
c.623T>C (p.Val208Ala)
c.4095+3892A>G (n.4095+3892A>G)
c.902T>C (p.Val301Ala)
c.4077+3892A>G (n.4077+3892A>G)
n.862T>C
 dbSNP gnomAD v4
6g.131583817T>GCA365653629ARG1,MED23c.878T>G (p.Val293Gly)
c.620T>G (p.Val207Gly)
c.824T>G (p.Val275Gly)
c.*765T>G (n.*765T>G)
c.623T>G (p.Val208Gly)
c.4095+3892A>C (n.4095+3892A>C)
c.902T>G (p.Val301Gly)
c.4077+3892A>C (n.4077+3892A>C)
n.862T>G
 dbSNP gnomAD v3 gnomAD v4
6g.131583817T=CA1664137861ARG1,MED23c.878T= (p.Val293=)
c.620T= (p.Val207=)
c.824T= (p.Val275=)
c.*765T= (n.*765T=)
c.623T= (p.Val208=)
c.4095+3892A= (n.4095+3892A=)
c.902T= (p.Val301=)
c.4077+3892A= (n.4077+3892A=)
n.862T=
6g.131583818G>ACA452153327ARG1,MED23c.879G>A (p.Val293=)
c.621G>A (p.Val207=)
c.825G>A (p.Val275=)
c.*766G>A (n.*766G>A)
c.624G>A (p.Val208=)
c.4095+3891C>T (n.4095+3891C>T)
c.903G>A (p.Val301=)
c.4077+3891C>T (n.4077+3891C>T)
n.863G>A
6g.131583818G>CCA3999398ARG1,MED23c.879G>C (p.Val293=)
c.621G>C (p.Val207=)
c.825G>C (p.Val275=)
c.*766G>C (n.*766G>C)
c.624G>C (p.Val208=)
c.4095+3891C>G (n.4095+3891C>G)
c.903G>C (p.Val301=)
c.4077+3891C>G (n.4077+3891C>G)
n.863G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131583818G=CA1664137865ARG1,MED23c.879G= (p.Val293=)
c.621G= (p.Val207=)
c.825G= (p.Val275=)
c.*766G= (n.*766G=)
c.624G= (p.Val208=)
c.4095+3891C= (n.4095+3891C=)
c.903G= (p.Val301=)
c.4077+3891C= (n.4077+3891C=)
n.863G=
6g.131583818G>TCA452153328ARG1,MED23c.879G>T (p.Val293=)
c.621G>T (p.Val207=)
c.825G>T (p.Val275=)
c.*766G>T (n.*766G>T)
c.624G>T (p.Val208=)
c.4095+3891C>A (n.4095+3891C>A)
c.903G>T (p.Val301=)
c.4077+3891C>A (n.4077+3891C>A)
n.863G>T
6g.131583819A>CCA365653631ARG1,MED23c.880A>C (p.Asn294His)
c.622A>C (p.Asn208His)
c.826A>C (p.Asn276His)
c.*767A>C (n.*767A>C)
c.625A>C (p.Asn209His)
c.4095+3890T>G (n.4095+3890T>G)
c.904A>C (p.Asn302His)
c.4077+3890T>G (n.4077+3890T>G)
n.864A>C
6g.131583819A>GCA365653632ARG1,MED23c.880A>G (p.Asn294Asp)
c.622A>G (p.Asn208Asp)
c.826A>G (p.Asn276Asp)
c.*767A>G (n.*767A>G)
c.625A>G (p.Asn209Asp)
c.4095+3890T>C (n.4095+3890T>C)
c.904A>G (p.Asn302Asp)
c.4077+3890T>C (n.4077+3890T>C)
n.864A>G
6g.131583819A>TCA365653633ARG1,MED23c.880A>T (p.Asn294Tyr)
c.622A>T (p.Asn208Tyr)
c.826A>T (p.Asn276Tyr)
c.*767A>T (n.*767A>T)
c.625A>T (p.Asn209Tyr)
c.4095+3890T>A (n.4095+3890T>A)
c.904A>T (p.Asn302Tyr)
c.4077+3890T>A (n.4077+3890T>A)
n.864A>T
6g.131583820A>CCA365653634ARG1,MED23c.881A>C (p.Asn294Thr)
c.623A>C (p.Asn208Thr)
c.827A>C (p.Asn276Thr)
c.*768A>C (n.*768A>C)
c.626A>C (p.Asn209Thr)
c.4095+3889T>G (n.4095+3889T>G)
c.905A>C (p.Asn302Thr)
c.4077+3889T>G (n.4077+3889T>G)
n.865A>C
6g.131583820A>GCA365653635ARG1,MED23c.881A>G (p.Asn294Ser)
c.623A>G (p.Asn208Ser)
c.827A>G (p.Asn276Ser)
c.*768A>G (n.*768A>G)
c.626A>G (p.Asn209Ser)
c.4095+3889T>C (n.4095+3889T>C)
c.905A>G (p.Asn302Ser)
c.4077+3889T>C (n.4077+3889T>C)
n.865A>G
 COSMIC
6g.131583820A>TCA365653636ARG1,MED23c.881A>T (p.Asn294Ile)
c.623A>T (p.Asn208Ile)
c.827A>T (p.Asn276Ile)
c.*768A>T (n.*768A>T)
c.626A>T (p.Asn209Ile)
c.4095+3889T>A (n.4095+3889T>A)
c.905A>T (p.Asn302Ile)
c.4077+3889T>A (n.4077+3889T>A)
n.865A>T
6g.131583821C>ACA3999399ARG1,MED23c.882C>A (p.Asn294Lys)
c.624C>A (p.Asn208Lys)
c.828C>A (p.Asn276Lys)
c.*769C>A (n.*769C>A)
c.627C>A (p.Asn209Lys)
c.4095+3888G>T (n.4095+3888G>T)
c.906C>A (p.Asn302Lys)
c.4077+3888G>T (n.4077+3888G>T)
n.866C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131583821C=CA1664137868ARG1,MED23c.882C= (p.Asn294=)
c.624C= (p.Asn208=)
c.828C= (p.Asn276=)
c.*769C= (n.*769C=)
c.627C= (p.Asn209=)
c.4095+3888G= (n.4095+3888G=)
c.906C= (p.Asn302=)
c.4077+3888G= (n.4077+3888G=)
n.866C=
6g.131583821C>GCA365653637ARG1,MED23c.882C>G (p.Asn294Lys)
c.624C>G (p.Asn208Lys)
c.828C>G (p.Asn276Lys)
c.*769C>G (n.*769C>G)
c.627C>G (p.Asn209Lys)
c.4095+3888G>C (n.4095+3888G>C)
c.906C>G (p.Asn302Lys)
c.4077+3888G>C (n.4077+3888G>C)
n.866C>G
6g.131583821C>TCA452153329ARG1,MED23c.882C>T (p.Asn294=)
c.624C>T (p.Asn208=)
c.828C>T (p.Asn276=)
c.*769C>T (n.*769C>T)
c.627C>T (p.Asn209=)
c.4095+3888G>A (n.4095+3888G>A)
c.906C>T (p.Asn302=)
c.4077+3888G>A (n.4077+3888G>A)
n.866C>T
6g.131583822A=CA1664137871ARG1,MED23c.883A= (p.Thr295=)
c.625A= (p.Thr209=)
c.829A= (p.Thr277=)
c.*770A= (n.*770A=)
c.628A= (p.Thr210=)
c.4095+3887T= (n.4095+3887T=)
c.907A= (p.Thr303=)
c.4077+3887T= (n.4077+3887T=)
n.867A=
6g.131583822A>CCA365653638ARG1,MED23c.883A>C (p.Thr295Pro)
c.625A>C (p.Thr209Pro)
c.829A>C (p.Thr277Pro)
c.*770A>C (n.*770A>C)
c.628A>C (p.Thr210Pro)
c.4095+3887T>G (n.4095+3887T>G)
c.907A>C (p.Thr303Pro)
c.4077+3887T>G (n.4077+3887T>G)
n.867A>C
6g.131583822A>GCA3999400ARG1,MED23c.883A>G (p.Thr295Ala)
c.625A>G (p.Thr209Ala)
c.829A>G (p.Thr277Ala)
c.*770A>G (n.*770A>G)
c.628A>G (p.Thr210Ala)
c.4095+3887T>C (n.4095+3887T>C)
c.907A>G (p.Thr303Ala)
c.4077+3887T>C (n.4077+3887T>C)
n.867A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.131583822A>TCA365653639ARG1,MED23c.883A>T (p.Thr295Ser)
c.625A>T (p.Thr209Ser)
c.829A>T (p.Thr277Ser)
c.*770A>T (n.*770A>T)
c.628A>T (p.Thr210Ser)
c.4095+3887T>A (n.4095+3887T>A)
c.907A>T (p.Thr303Ser)
c.4077+3887T>A (n.4077+3887T>A)
n.867A>T

Number of alleles fetched