Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.131583810C>ACA452153320ARG1,MED23c.871C>A (p.Arg291=)
n.613C>A (p.Arg205=)
c.817C>A (p.Arg273=)
c.*758C>A (p.=)
c.616C>A (p.Arg206=)
c.4095+3899G>T (p.=)
c.895C>A (p.Arg299=)
c.4077+3899G>T (p.=)
n.855C>A
6g.131583810C>GCA365653618ARG1,MED23c.871C>G (p.Arg291Gly)
n.613C>G (p.Arg205Gly)
c.817C>G (p.Arg273Gly)
c.*758C>G (p.=)
c.616C>G (p.Arg206Gly)
c.4095+3899G>C (p.=)
c.895C>G (p.Arg299Gly)
c.4077+3899G>C (p.=)
n.855C>G
6g.131583810C>TCA339968ARG1,MED23c.871C>T (p.Arg291Ter)
n.613C>T (p.Arg205Ter)
c.817C>T (p.Arg273Ter)
c.*758C>T (p.=)
c.616C>T (p.Arg206Ter)
c.4095+3899G>A (p.=)
c.895C>T (p.Arg299Ter)
c.4077+3899G>A (p.=)
n.855C>T
ClinVar dbSNP ExAC gnomAD
6g.131583811G>ACA3999394ARG1,MED23c.872G>A (p.Arg291Gln)
n.614G>A (p.Arg205Gln)
c.818G>A (p.Arg273Gln)
c.*759G>A (p.=)
c.617G>A (p.Arg206Gln)
c.4095+3898C>T (p.=)
c.896G>A (p.Arg299Gln)
c.4077+3898C>T (p.=)
n.856G>A
ExAC gnomAD
6g.131583811G>CCA3999396ARG1,MED23c.872G>C (p.Arg291Pro)
n.614G>C (p.Arg205Pro)
c.818G>C (p.Arg273Pro)
c.*759G>C (p.=)
c.617G>C (p.Arg206Pro)
c.4095+3898C>G (p.=)
c.896G>C (p.Arg299Pro)
c.4077+3898C>G (p.=)
n.856G>C
dbSNP ExAC gnomAD
6g.131583811G>TCA365653619ARG1,MED23c.872G>T (p.Arg291Leu)
n.614G>T (p.Arg205Leu)
c.818G>T (p.Arg273Leu)
c.*759G>T (p.=)
c.617G>T (p.Arg206Leu)
c.4095+3898C>A (p.=)
c.896G>T (p.Arg299Leu)
c.4077+3898C>A (p.=)
n.856G>T
6g.131583811_131583812delCA913109529ARG1,MED23c.872_873del (p.Arg291HisfsTer20)
n.614_615del (p.Arg205HisfsTer20)
c.818_819del (p.Arg273HisfsTer20)
c.*759_*760del (p.=)
c.617_618del (p.Arg206HisfsTer20)
c.4095+3897_4095+3898del (p.=)
c.896_897del (p.Arg299HisfsTer20)
c.4077+3897_4077+3898del (p.=)
n.856_857del
6g.131583812A>CCA452153323ARG1,MED23c.873A>C (p.Arg291=)
n.615A>C (p.Arg205=)
c.819A>C (p.Arg273=)
c.*760A>C (p.=)
c.618A>C (p.Arg206=)
c.4095+3897T>G (p.=)
c.897A>C (p.Arg299=)
c.4077+3897T>G (p.=)
n.857A>C
6g.131583812A>GCA452153321ARG1,MED23c.873A>G (p.Arg291=)
n.615A>G (p.Arg205=)
c.819A>G (p.Arg273=)
c.*760A>G (p.=)
c.618A>G (p.Arg206=)
c.4095+3897T>C (p.=)
c.897A>G (p.Arg299=)
c.4077+3897T>C (p.=)
n.857A>G
6g.131583812A>TCA452153322ARG1,MED23c.873A>T (p.Arg291=)
n.615A>T (p.Arg205=)
c.819A>T (p.Arg273=)
c.*760A>T (p.=)
c.618A>T (p.Arg206=)
c.4095+3897T>A (p.=)
c.897A>T (p.Arg299=)
c.4077+3897T>A (p.=)
n.857A>T
6g.131583813delCA3999395ARG1,MED23c.874del (p.Thr292GlnfsTer2)
n.616del (p.Thr206GlnfsTer2)
c.820del (p.Thr274GlnfsTer2)
c.*761del (p.=)
c.619del (p.Thr207GlnfsTer2)
c.4095+3897del (p.=)
c.898del (p.Thr300GlnfsTer2)
c.4077+3897del (p.=)
n.858del
ClinVar dbSNP ExAC gnomAD
6g.131583813A>CCA365653620ARG1,MED23c.874A>C (p.Thr292Pro)
n.616A>C (p.Thr206Pro)
c.820A>C (p.Thr274Pro)
c.*761A>C (p.=)
c.619A>C (p.Thr207Pro)
c.4095+3896T>G (p.=)
c.898A>C (p.Thr300Pro)
c.4077+3896T>G (p.=)
n.858A>C
6g.131583813A>GCA365653621ARG1,MED23c.874A>G (p.Thr292Ala)
n.616A>G (p.Thr206Ala)
c.820A>G (p.Thr274Ala)
c.*761A>G (p.=)
c.619A>G (p.Thr207Ala)
c.4095+3896T>C (p.=)
c.898A>G (p.Thr300Ala)
c.4077+3896T>C (p.=)
n.858A>G
6g.131583813A>TCA365653622ARG1,MED23c.874A>T (p.Thr292Ser)
n.616A>T (p.Thr206Ser)
c.820A>T (p.Thr274Ser)
c.*761A>T (p.=)
c.619A>T (p.Thr207Ser)
c.4095+3896T>A (p.=)
c.898A>T (p.Thr300Ser)
c.4077+3896T>A (p.=)
n.858A>T
6g.131583814C>ACA365653623ARG1,MED23c.875C>A (p.Thr292Lys)
n.617C>A (p.Thr206Lys)
c.821C>A (p.Thr274Lys)
c.*762C>A (p.=)
c.620C>A (p.Thr207Lys)
c.4095+3895G>T (p.=)
c.899C>A (p.Thr300Lys)
c.4077+3895G>T (p.=)
n.859C>A
6g.131583814C>GCA365653624ARG1,MED23c.875C>G (p.Thr292Arg)
n.617C>G (p.Thr206Arg)
c.821C>G (p.Thr274Arg)
c.*762C>G (p.=)
c.620C>G (p.Thr207Arg)
c.4095+3895G>C (p.=)
c.899C>G (p.Thr300Arg)
c.4077+3895G>C (p.=)
n.859C>G
6g.131583814C>TCA365653625ARG1,MED23c.875C>T (p.Thr292Ile)
n.617C>T (p.Thr206Ile)
c.821C>T (p.Thr274Ile)
c.*762C>T (p.=)
c.620C>T (p.Thr207Ile)
c.4095+3895G>A (p.=)
c.899C>T (p.Thr300Ile)
c.4077+3895G>A (p.=)
n.859C>T
COSMIC
6g.131583815A>CCA452153324ARG1,MED23c.876A>C (p.Thr292=)
n.618A>C (p.Thr206=)
c.822A>C (p.Thr274=)
c.*763A>C (p.=)
c.621A>C (p.Thr207=)
c.4095+3894T>G (p.=)
c.900A>C (p.Thr300=)
c.4077+3894T>G (p.=)
n.860A>C
6g.131583815A>GCA452153325ARG1,MED23c.876A>G (p.Thr292=)
n.618A>G (p.Thr206=)
c.822A>G (p.Thr274=)
c.*763A>G (p.=)
c.621A>G (p.Thr207=)
c.4095+3894T>C (p.=)
c.900A>G (p.Thr300=)
c.4077+3894T>C (p.=)
n.860A>G
6g.131583815A>TCA452153326ARG1,MED23c.876A>T (p.Thr292=)
n.618A>T (p.Thr206=)
c.822A>T (p.Thr274=)
c.*763A>T (p.=)
c.621A>T (p.Thr207=)
c.4095+3894T>A (p.=)
c.900A>T (p.Thr300=)
c.4077+3894T>A (p.=)
n.860A>T
6g.131583816G>ACA365653626ARG1,MED23c.877G>A (p.Val293Met)
n.619G>A (p.Val207Met)
c.823G>A (p.Val275Met)
c.*764G>A (p.=)
c.622G>A (p.Val208Met)
c.4095+3893C>T (p.=)
c.901G>A (p.Val301Met)
c.4077+3893C>T (p.=)
n.861G>A
6g.131583816G>CCA3999397ARG1,MED23c.877G>C (p.Val293Leu)
n.619G>C (p.Val207Leu)
c.823G>C (p.Val275Leu)
c.*764G>C (p.=)
c.622G>C (p.Val208Leu)
c.4095+3893C>G (p.=)
c.901G>C (p.Val301Leu)
c.4077+3893C>G (p.=)
n.861G>C
dbSNP ExAC gnomAD
6g.131583816G>TCA365653627ARG1,MED23c.877G>T (p.Val293Leu)
n.619G>T (p.Val207Leu)
c.823G>T (p.Val275Leu)
c.*764G>T (p.=)
c.622G>T (p.Val208Leu)
c.4095+3893C>A (p.=)
c.901G>T (p.Val301Leu)
c.4077+3893C>A (p.=)
n.861G>T
6g.131583817T>ACA365653630ARG1,MED23c.878T>A (p.Val293Glu)
n.620T>A (p.Val207Glu)
c.824T>A (p.Val275Glu)
c.*765T>A (p.=)
c.623T>A (p.Val208Glu)
c.4095+3892A>T (p.=)
c.902T>A (p.Val301Glu)
c.4077+3892A>T (p.=)
n.862T>A
6g.131583817T>CCA365653628ARG1,MED23c.878T>C (p.Val293Ala)
n.620T>C (p.Val207Ala)
c.824T>C (p.Val275Ala)
c.*765T>C (p.=)
c.623T>C (p.Val208Ala)
c.4095+3892A>G (p.=)
c.902T>C (p.Val301Ala)
c.4077+3892A>G (p.=)
n.862T>C
6g.131583817T>GCA365653629ARG1,MED23c.878T>G (p.Val293Gly)
n.620T>G (p.Val207Gly)
c.824T>G (p.Val275Gly)
c.*765T>G (p.=)
c.623T>G (p.Val208Gly)
c.4095+3892A>C (p.=)
c.902T>G (p.Val301Gly)
c.4077+3892A>C (p.=)
n.862T>G
6g.131583818G>ACA452153327ARG1,MED23c.879G>A (p.Val293=)
n.621G>A (p.Val207=)
c.825G>A (p.Val275=)
c.*766G>A (p.=)
c.624G>A (p.Val208=)
c.4095+3891C>T (p.=)
c.903G>A (p.Val301=)
c.4077+3891C>T (p.=)
n.863G>A
6g.131583818G>CCA3999398ARG1,MED23c.879G>C (p.Val293=)
n.621G>C (p.Val207=)
c.825G>C (p.Val275=)
c.*766G>C (p.=)
c.624G>C (p.Val208=)
c.4095+3891C>G (p.=)
c.903G>C (p.Val301=)
c.4077+3891C>G (p.=)
n.863G>C
dbSNP ExAC gnomAD
6g.131583818G>TCA452153328ARG1,MED23c.879G>T (p.Val293=)
n.621G>T (p.Val207=)
c.825G>T (p.Val275=)
c.*766G>T (p.=)
c.624G>T (p.Val208=)
c.4095+3891C>A (p.=)
c.903G>T (p.Val301=)
c.4077+3891C>A (p.=)
n.863G>T
6g.131583819A>CCA365653631ARG1,MED23c.880A>C (p.Asn294His)
n.622A>C (p.Asn208His)
c.826A>C (p.Asn276His)
c.*767A>C (p.=)
c.625A>C (p.Asn209His)
c.4095+3890T>G (p.=)
c.904A>C (p.Asn302His)
c.4077+3890T>G (p.=)
n.864A>C
6g.131583819A>GCA365653632ARG1,MED23c.880A>G (p.Asn294Asp)
n.622A>G (p.Asn208Asp)
c.826A>G (p.Asn276Asp)
c.*767A>G (p.=)
c.625A>G (p.Asn209Asp)
c.4095+3890T>C (p.=)
c.904A>G (p.Asn302Asp)
c.4077+3890T>C (p.=)
n.864A>G
6g.131583819A>TCA365653633ARG1,MED23c.880A>T (p.Asn294Tyr)
n.622A>T (p.Asn208Tyr)
c.826A>T (p.Asn276Tyr)
c.*767A>T (p.=)
c.625A>T (p.Asn209Tyr)
c.4095+3890T>A (p.=)
c.904A>T (p.Asn302Tyr)
c.4077+3890T>A (p.=)
n.864A>T
6g.131583820A>CCA365653634ARG1,MED23c.881A>C (p.Asn294Thr)
n.623A>C (p.Asn208Thr)
c.827A>C (p.Asn276Thr)
c.*768A>C (p.=)
c.626A>C (p.Asn209Thr)
c.4095+3889T>G (p.=)
c.905A>C (p.Asn302Thr)
c.4077+3889T>G (p.=)
n.865A>C
6g.131583820A>GCA365653635ARG1,MED23c.881A>G (p.Asn294Ser)
n.623A>G (p.Asn208Ser)
c.827A>G (p.Asn276Ser)
c.*768A>G (p.=)
c.626A>G (p.Asn209Ser)
c.4095+3889T>C (p.=)
c.905A>G (p.Asn302Ser)
c.4077+3889T>C (p.=)
n.865A>G
COSMIC
6g.131583820A>TCA365653636ARG1,MED23c.881A>T (p.Asn294Ile)
n.623A>T (p.Asn208Ile)
c.827A>T (p.Asn276Ile)
c.*768A>T (p.=)
c.626A>T (p.Asn209Ile)
c.4095+3889T>A (p.=)
c.905A>T (p.Asn302Ile)
c.4077+3889T>A (p.=)
n.865A>T
6g.131583821C>ACA3999399ARG1,MED23c.882C>A (p.Asn294Lys)
n.624C>A (p.Asn208Lys)
c.828C>A (p.Asn276Lys)
c.*769C>A (p.=)
c.627C>A (p.Asn209Lys)
c.4095+3888G>T (p.=)
c.906C>A (p.Asn302Lys)
c.4077+3888G>T (p.=)
n.866C>A
dbSNP ExAC gnomAD
6g.131583821C>GCA365653637ARG1,MED23c.882C>G (p.Asn294Lys)
n.624C>G (p.Asn208Lys)
c.828C>G (p.Asn276Lys)
c.*769C>G (p.=)
c.627C>G (p.Asn209Lys)
c.4095+3888G>C (p.=)
c.906C>G (p.Asn302Lys)
c.4077+3888G>C (p.=)
n.866C>G
6g.131583821C>TCA452153329ARG1,MED23c.882C>T (p.Asn294=)
n.624C>T (p.Asn208=)
c.828C>T (p.Asn276=)
c.*769C>T (p.=)
c.627C>T (p.Asn209=)
c.4095+3888G>A (p.=)
c.906C>T (p.Asn302=)
c.4077+3888G>A (p.=)
n.866C>T
6g.131583822A>CCA365653638ARG1,MED23c.883A>C (p.Thr295Pro)
n.625A>C (p.Thr209Pro)
c.829A>C (p.Thr277Pro)
c.*770A>C (p.=)
c.628A>C (p.Thr210Pro)
c.4095+3887T>G (p.=)
c.907A>C (p.Thr303Pro)
c.4077+3887T>G (p.=)
n.867A>C
6g.131583822A>GCA3999400ARG1,MED23c.883A>G (p.Thr295Ala)
n.625A>G (p.Thr209Ala)
c.829A>G (p.Thr277Ala)
c.*770A>G (p.=)
c.628A>G (p.Thr210Ala)
c.4095+3887T>C (p.=)
c.907A>G (p.Thr303Ala)
c.4077+3887T>C (p.=)
n.867A>G
dbSNP ExAC gnomAD
6g.131583822A>TCA365653639ARG1,MED23c.883A>T (p.Thr295Ser)
n.625A>T (p.Thr209Ser)
c.829A>T (p.Thr277Ser)
c.*770A>T (p.=)
c.628A>T (p.Thr210Ser)
c.4095+3887T>A (p.=)
c.907A>T (p.Thr303Ser)
c.4077+3887T>A (p.=)
n.867A>T
6g.131583823C>ACA365653642ARG1,MED23c.884C>A (p.Thr295Lys)
n.626C>A (p.Thr209Lys)
c.830C>A (p.Thr277Lys)
c.*771C>A (p.=)
c.629C>A (p.Thr210Lys)
c.4095+3886G>T (p.=)
c.908C>A (p.Thr303Lys)
c.4077+3886G>T (p.=)
n.868C>A
6g.131583823C>GCA365653641ARG1,MED23c.884C>G (p.Thr295Arg)
n.626C>G (p.Thr209Arg)
c.830C>G (p.Thr277Arg)
c.*771C>G (p.=)
c.629C>G (p.Thr210Arg)
c.4095+3886G>C (p.=)
c.908C>G (p.Thr303Arg)
c.4077+3886G>C (p.=)
n.868C>G
6g.131583823C>TCA365653640ARG1,MED23c.884C>T (p.Thr295Ile)
n.626C>T (p.Thr209Ile)
c.830C>T (p.Thr277Ile)
c.*771C>T (p.=)
c.629C>T (p.Thr210Ile)
c.4095+3886G>A (p.=)
c.908C>T (p.Thr303Ile)
c.4077+3886G>A (p.=)
n.868C>T
6g.131583824A>CCA452153330ARG1,MED23c.885A>C (p.Thr295=)
n.627A>C (p.Thr209=)
c.831A>C (p.Thr277=)
c.*772A>C (p.=)
c.630A>C (p.Thr210=)
c.4095+3885T>G (p.=)
c.909A>C (p.Thr303=)
c.4077+3885T>G (p.=)
n.869A>C
6g.131583824A>GCA3999401ARG1,MED23c.885A>G (p.Thr295=)
n.627A>G (p.Thr209=)
c.831A>G (p.Thr277=)
c.*772A>G (p.=)
c.630A>G (p.Thr210=)
c.4095+3885T>C (p.=)
c.909A>G (p.Thr303=)
c.4077+3885T>C (p.=)
n.869A>G
dbSNP ExAC gnomAD
6g.131583824A>TCA452153331ARG1,MED23c.885A>T (p.Thr295=)
n.627A>T (p.Thr209=)
c.831A>T (p.Thr277=)
c.*772A>T (p.=)
c.630A>T (p.Thr210=)
c.4095+3885T>A (p.=)
c.909A>T (p.Thr303=)
c.4077+3885T>A (p.=)
n.869A>T
6g.131583825G>ACA365653643ARG1,MED23c.886G>A (p.Ala296Thr)
n.628G>A (p.Ala210Thr)
c.832G>A (p.Ala278Thr)
c.*773G>A (p.=)
c.631G>A (p.Ala211Thr)
c.4095+3884C>T (p.=)
c.910G>A (p.Ala304Thr)
c.4077+3884C>T (p.=)
n.870G>A
6g.131583825G>CCA365653645ARG1,MED23c.886G>C (p.Ala296Pro)
n.628G>C (p.Ala210Pro)
c.832G>C (p.Ala278Pro)
c.*773G>C (p.=)
c.631G>C (p.Ala211Pro)
c.4095+3884C>G (p.=)
c.910G>C (p.Ala304Pro)
c.4077+3884C>G (p.=)
n.870G>C
6g.131583825G>TCA365653644ARG1,MED23c.886G>T (p.Ala296Ser)
n.628G>T (p.Ala210Ser)
c.832G>T (p.Ala278Ser)
c.*773G>T (p.=)
c.631G>T (p.Ala211Ser)
c.4095+3884C>A (p.=)
c.910G>T (p.Ala304Ser)
c.4077+3884C>A (p.=)
n.870G>T

Number of alleles fetched