Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.101412954T>ACA347974344RFX8c.1018A>T (p.Ser340Cys)
c.679A>T (p.Ser227Cys)
c.892A>T (p.Ser298Cys)
c.805A>T (p.Ser269Cys)
c.*395A>T (n.*395A>T)
c.907A>T (p.Ser303Cys)
c.589A>T (p.Ser197Cys)
c.391A>T (p.Ser131Cys)
c.*92A>T (n.*92A>T)
n.962A>T
c.166A>T (p.Ser56Cys)
2g.101412954T>CCA1806428RFX8c.1018A>G (p.Ser340Gly)
c.679A>G (p.Ser227Gly)
c.892A>G (p.Ser298Gly)
c.805A>G (p.Ser269Gly)
c.*395A>G (n.*395A>G)
c.907A>G (p.Ser303Gly)
c.589A>G (p.Ser197Gly)
c.391A>G (p.Ser131Gly)
c.*92A>G (n.*92A>G)
n.962A>G
c.166A>G (p.Ser56Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.101412954T>GCA347974343RFX8c.1018A>C (p.Ser340Arg)
c.679A>C (p.Ser227Arg)
c.892A>C (p.Ser298Arg)
c.805A>C (p.Ser269Arg)
c.*395A>C (n.*395A>C)
c.907A>C (p.Ser303Arg)
c.589A>C (p.Ser197Arg)
c.391A>C (p.Ser131Arg)
c.*92A>C (n.*92A>C)
n.962A>C
c.166A>C (p.Ser56Arg)
2g.101412954T=CA1274778580RFX8c.1018A= (p.Ser340=)
c.679A= (p.Ser227=)
c.892A= (p.Ser298=)
c.805A= (p.Ser269=)
c.*395A= (n.*395A=)
c.907A= (p.Ser303=)
c.589A= (p.Ser197=)
c.391A= (p.Ser131=)
c.*92A= (n.*92A=)
n.962A=
c.166A= (p.Ser56=)
2g.101412955C>ACA427793196RFX8c.1017G>T (p.Arg339=)
c.678G>T (p.Arg226=)
c.891G>T (p.Arg297=)
c.804G>T (p.Arg268=)
c.*394G>T (n.*394G>T)
c.906G>T (p.Arg302=)
c.588G>T (p.Arg196=)
c.390G>T (p.Arg130=)
c.*91G>T (n.*91G>T)
n.961G>T
c.165G>T (p.Arg55=)
2g.101412955C>GCA427793198RFX8c.1017G>C (p.Arg339=)
c.678G>C (p.Arg226=)
c.891G>C (p.Arg297=)
c.804G>C (p.Arg268=)
c.*394G>C (n.*394G>C)
c.906G>C (p.Arg302=)
c.588G>C (p.Arg196=)
c.390G>C (p.Arg130=)
c.*91G>C (n.*91G>C)
n.961G>C
c.165G>C (p.Arg55=)
2g.101412955C>TCA427793200RFX8c.1017G>A (p.Arg339=)
c.678G>A (p.Arg226=)
c.891G>A (p.Arg297=)
c.804G>A (p.Arg268=)
c.*394G>A (n.*394G>A)
c.906G>A (p.Arg302=)
c.588G>A (p.Arg196=)
c.390G>A (p.Arg130=)
c.*91G>A (n.*91G>A)
n.961G>A
c.165G>A (p.Arg55=)
 gnomAD v4
2g.101412956C>ACA347974345RFX8c.1016G>T (p.Arg339Leu)
c.677G>T (p.Arg226Leu)
c.890G>T (p.Arg297Leu)
c.803G>T (p.Arg268Leu)
c.*393G>T (n.*393G>T)
c.905G>T (p.Arg302Leu)
c.587G>T (p.Arg196Leu)
c.389G>T (p.Arg130Leu)
c.*90G>T (n.*90G>T)
n.960G>T
c.164G>T (p.Arg55Leu)
 dbSNP gnomAD v2
2g.101412956C=CA1274778581RFX8c.1016G= (p.Arg339=)
c.677G= (p.Arg226=)
c.890G= (p.Arg297=)
c.803G= (p.Arg268=)
c.*393G= (n.*393G=)
c.905G= (p.Arg302=)
c.587G= (p.Arg196=)
c.389G= (p.Arg130=)
c.*90G= (n.*90G=)
n.960G=
c.164G= (p.Arg55=)
2g.101412956C>GCA347974347RFX8c.1016G>C (p.Arg339Pro)
c.677G>C (p.Arg226Pro)
c.890G>C (p.Arg297Pro)
c.803G>C (p.Arg268Pro)
c.*393G>C (n.*393G>C)
c.905G>C (p.Arg302Pro)
c.587G>C (p.Arg196Pro)
c.389G>C (p.Arg130Pro)
c.*90G>C (n.*90G>C)
n.960G>C
c.164G>C (p.Arg55Pro)
2g.101412956C>TCA347974346RFX8c.1016G>A (p.Arg339Gln)
c.677G>A (p.Arg226Gln)
c.890G>A (p.Arg297Gln)
c.803G>A (p.Arg268Gln)
c.*393G>A (n.*393G>A)
c.905G>A (p.Arg302Gln)
c.587G>A (p.Arg196Gln)
c.389G>A (p.Arg130Gln)
c.*90G>A (n.*90G>A)
n.960G>A
c.164G>A (p.Arg55Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.101412957G>ACA1806429RFX8c.1015C>T (p.Arg339Trp)
c.676C>T (p.Arg226Trp)
c.889C>T (p.Arg297Trp)
c.802C>T (p.Arg268Trp)
c.*392C>T (n.*392C>T)
c.904C>T (p.Arg302Trp)
c.586C>T (p.Arg196Trp)
c.388C>T (p.Arg130Trp)
c.*89C>T (n.*89C>T)
n.959C>T
c.163C>T (p.Arg55Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.101412957G>CCA347974348RFX8c.1015C>G (p.Arg339Gly)
c.676C>G (p.Arg226Gly)
c.889C>G (p.Arg297Gly)
c.802C>G (p.Arg268Gly)
c.*392C>G (n.*392C>G)
c.904C>G (p.Arg302Gly)
c.586C>G (p.Arg196Gly)
c.388C>G (p.Arg130Gly)
c.*89C>G (n.*89C>G)
n.959C>G
c.163C>G (p.Arg55Gly)
2g.101412957G=CA1274778582RFX8c.1015C= (p.Arg339=)
c.676C= (p.Arg226=)
c.889C= (p.Arg297=)
c.802C= (p.Arg268=)
c.*392C= (n.*392C=)
c.904C= (p.Arg302=)
c.586C= (p.Arg196=)
c.388C= (p.Arg130=)
c.*89C= (n.*89C=)
n.959C=
c.163C= (p.Arg55=)
2g.101412957G>TCA427793208RFX8c.1015C>A (p.Arg339=)
c.676C>A (p.Arg226=)
c.889C>A (p.Arg297=)
c.802C>A (p.Arg268=)
c.*392C>A (n.*392C>A)
c.904C>A (p.Arg302=)
c.586C>A (p.Arg196=)
c.388C>A (p.Arg130=)
c.*89C>A (n.*89C>A)
n.959C>A
c.163C>A (p.Arg55=)
 dbSNP gnomAD v3 gnomAD v4
2g.101412958G>ACA53230238RFX8c.1014C>T (p.Asp338=)
c.675C>T (p.Asp225=)
c.888C>T (p.Asp296=)
c.801C>T (p.Asp267=)
c.*391C>T (n.*391C>T)
c.903C>T (p.Asp301=)
c.585C>T (p.Asp195=)
c.387C>T (p.Asp129=)
c.*88C>T (n.*88C>T)
n.958C>T
c.162C>T (p.Asp54=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101412958G>CCA347974349RFX8c.1014C>G (p.Asp338Glu)
c.675C>G (p.Asp225Glu)
c.888C>G (p.Asp296Glu)
c.801C>G (p.Asp267Glu)
c.*391C>G (n.*391C>G)
c.903C>G (p.Asp301Glu)
c.585C>G (p.Asp195Glu)
c.387C>G (p.Asp129Glu)
c.*88C>G (n.*88C>G)
n.958C>G
c.162C>G (p.Asp54Glu)
2g.101412958G=CA1274778583RFX8c.1014C= (p.Asp338=)
c.675C= (p.Asp225=)
c.888C= (p.Asp296=)
c.801C= (p.Asp267=)
c.*391C= (n.*391C=)
c.903C= (p.Asp301=)
c.585C= (p.Asp195=)
c.387C= (p.Asp129=)
c.*88C= (n.*88C=)
n.958C=
c.162C= (p.Asp54=)
2g.101412958G>TCA347974350RFX8c.1014C>A (p.Asp338Glu)
c.675C>A (p.Asp225Glu)
c.888C>A (p.Asp296Glu)
c.801C>A (p.Asp267Glu)
c.*391C>A (n.*391C>A)
c.903C>A (p.Asp301Glu)
c.585C>A (p.Asp195Glu)
c.387C>A (p.Asp129Glu)
c.*88C>A (n.*88C>A)
n.958C>A
c.162C>A (p.Asp54Glu)
 COSMIC COSMIC
2g.101412959T>ACA347974351RFX8c.1013A>T (p.Asp338Val)
c.674A>T (p.Asp225Val)
c.887A>T (p.Asp296Val)
c.800A>T (p.Asp267Val)
c.*390A>T (n.*390A>T)
c.902A>T (p.Asp301Val)
c.584A>T (p.Asp195Val)
c.386A>T (p.Asp129Val)
c.*87A>T (n.*87A>T)
n.957A>T
c.161A>T (p.Asp54Val)
2g.101412959T>CCA347974352RFX8c.1013A>G (p.Asp338Gly)
c.674A>G (p.Asp225Gly)
c.887A>G (p.Asp296Gly)
c.800A>G (p.Asp267Gly)
c.*390A>G (n.*390A>G)
c.902A>G (p.Asp301Gly)
c.584A>G (p.Asp195Gly)
c.386A>G (p.Asp129Gly)
c.*87A>G (n.*87A>G)
n.957A>G
c.161A>G (p.Asp54Gly)
2g.101412959T>GCA347974353RFX8c.1013A>C (p.Asp338Ala)
c.674A>C (p.Asp225Ala)
c.887A>C (p.Asp296Ala)
c.800A>C (p.Asp267Ala)
c.*390A>C (n.*390A>C)
c.902A>C (p.Asp301Ala)
c.584A>C (p.Asp195Ala)
c.386A>C (p.Asp129Ala)
c.*87A>C (n.*87A>C)
n.957A>C
c.161A>C (p.Asp54Ala)
2g.101412960C>ACA347974354RFX8c.1012G>T (p.Asp338Tyr)
c.673G>T (p.Asp225Tyr)
c.886G>T (p.Asp296Tyr)
c.799G>T (p.Asp267Tyr)
c.*389G>T (n.*389G>T)
c.901G>T (p.Asp301Tyr)
c.583G>T (p.Asp195Tyr)
c.385G>T (p.Asp129Tyr)
c.*86G>T (n.*86G>T)
n.956G>T
c.160G>T (p.Asp54Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.101412960C=CA1274778584RFX8c.1012G= (p.Asp338=)
c.673G= (p.Asp225=)
c.886G= (p.Asp296=)
c.799G= (p.Asp267=)
c.*389G= (n.*389G=)
c.901G= (p.Asp301=)
c.583G= (p.Asp195=)
c.385G= (p.Asp129=)
c.*86G= (n.*86G=)
n.956G=
c.160G= (p.Asp54=)
2g.101412960C>GCA347974355RFX8c.1012G>C (p.Asp338His)
c.673G>C (p.Asp225His)
c.886G>C (p.Asp296His)
c.799G>C (p.Asp267His)
c.*389G>C (n.*389G>C)
c.901G>C (p.Asp301His)
c.583G>C (p.Asp195His)
c.385G>C (p.Asp129His)
c.*86G>C (n.*86G>C)
n.956G>C
c.160G>C (p.Asp54His)
2g.101412960C>TCA347974356RFX8c.1012G>A (p.Asp338Asn)
c.673G>A (p.Asp225Asn)
c.886G>A (p.Asp296Asn)
c.799G>A (p.Asp267Asn)
c.*389G>A (n.*389G>A)
c.901G>A (p.Asp301Asn)
c.583G>A (p.Asp195Asn)
c.385G>A (p.Asp129Asn)
c.*86G>A (n.*86G>A)
n.956G>A
c.160G>A (p.Asp54Asn)
2g.101412961A=CA1274778585RFX8c.1011T= (p.Ser337=)
c.672T= (p.Ser224=)
c.885T= (p.Ser295=)
c.798T= (p.Ser266=)
c.*388T= (n.*388T=)
c.900T= (p.Ser300=)
c.582T= (p.Ser194=)
c.384T= (p.Ser128=)
c.*85T= (n.*85T=)
n.955T=
c.159T= (p.Ser53=)
2g.101412961A>CCA347974357RFX8c.1011T>G (p.Ser337Arg)
c.672T>G (p.Ser224Arg)
c.885T>G (p.Ser295Arg)
c.798T>G (p.Ser266Arg)
c.*388T>G (n.*388T>G)
c.900T>G (p.Ser300Arg)
c.582T>G (p.Ser194Arg)
c.384T>G (p.Ser128Arg)
c.*85T>G (n.*85T>G)
n.955T>G
c.159T>G (p.Ser53Arg)
2g.101412961A>GCA427793223RFX8c.1011T>C (p.Ser337=)
c.672T>C (p.Ser224=)
c.885T>C (p.Ser295=)
c.798T>C (p.Ser266=)
c.*388T>C (n.*388T>C)
c.900T>C (p.Ser300=)
c.582T>C (p.Ser194=)
c.384T>C (p.Ser128=)
c.*85T>C (n.*85T>C)
n.955T>C
c.159T>C (p.Ser53=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101412961A>TCA347974358RFX8c.1011T>A (p.Ser337Arg)
c.672T>A (p.Ser224Arg)
c.885T>A (p.Ser295Arg)
c.798T>A (p.Ser266Arg)
c.*388T>A (n.*388T>A)
c.900T>A (p.Ser300Arg)
c.582T>A (p.Ser194Arg)
c.384T>A (p.Ser128Arg)
c.*85T>A (n.*85T>A)
n.955T>A
c.159T>A (p.Ser53Arg)
2g.101412962C>ACA347974361RFX8c.1010G>T (p.Ser337Ile)
c.671G>T (p.Ser224Ile)
c.884G>T (p.Ser295Ile)
c.797G>T (p.Ser266Ile)
c.*387G>T (n.*387G>T)
c.899G>T (p.Ser300Ile)
c.581G>T (p.Ser194Ile)
c.383G>T (p.Ser128Ile)
c.*84G>T (n.*84G>T)
n.954G>T
c.158G>T (p.Ser53Ile)
2g.101412962C>GCA347974359RFX8c.1010G>C (p.Ser337Thr)
c.671G>C (p.Ser224Thr)
c.884G>C (p.Ser295Thr)
c.797G>C (p.Ser266Thr)
c.*387G>C (n.*387G>C)
c.899G>C (p.Ser300Thr)
c.581G>C (p.Ser194Thr)
c.383G>C (p.Ser128Thr)
c.*84G>C (n.*84G>C)
n.954G>C
c.158G>C (p.Ser53Thr)
2g.101412962C>TCA347974360RFX8c.1010G>A (p.Ser337Asn)
c.671G>A (p.Ser224Asn)
c.884G>A (p.Ser295Asn)
c.797G>A (p.Ser266Asn)
c.*387G>A (n.*387G>A)
c.899G>A (p.Ser300Asn)
c.581G>A (p.Ser194Asn)
c.383G>A (p.Ser128Asn)
c.*84G>A (n.*84G>A)
n.954G>A
c.158G>A (p.Ser53Asn)
 gnomAD v4
2g.101412963T>ACA347974362RFX8c.1009A>T (p.Ser337Cys)
c.670A>T (p.Ser224Cys)
c.883A>T (p.Ser295Cys)
c.796A>T (p.Ser266Cys)
c.*386A>T (n.*386A>T)
c.898A>T (p.Ser300Cys)
c.580A>T (p.Ser194Cys)
c.382A>T (p.Ser128Cys)
c.*83A>T (n.*83A>T)
n.953A>T
c.157A>T (p.Ser53Cys)
2g.101412963T>CCA347974363RFX8c.1009A>G (p.Ser337Gly)
c.670A>G (p.Ser224Gly)
c.883A>G (p.Ser295Gly)
c.796A>G (p.Ser266Gly)
c.*386A>G (n.*386A>G)
c.898A>G (p.Ser300Gly)
c.580A>G (p.Ser194Gly)
c.382A>G (p.Ser128Gly)
c.*83A>G (n.*83A>G)
n.953A>G
c.157A>G (p.Ser53Gly)
2g.101412963T>GCA347974364RFX8c.1009A>C (p.Ser337Arg)
c.670A>C (p.Ser224Arg)
c.883A>C (p.Ser295Arg)
c.796A>C (p.Ser266Arg)
c.*386A>C (n.*386A>C)
c.898A>C (p.Ser300Arg)
c.580A>C (p.Ser194Arg)
c.382A>C (p.Ser128Arg)
c.*83A>C (n.*83A>C)
n.953A>C
c.157A>C (p.Ser53Arg)
2g.101412964T>ACA427793235RFX8c.1008A>T (p.Ala336=)
c.669A>T (p.Ala223=)
c.882A>T (p.Ala294=)
c.795A>T (p.Ala265=)
c.*385A>T (n.*385A>T)
c.897A>T (p.Ala299=)
c.579A>T (p.Ala193=)
c.381A>T (p.Ala127=)
c.*82A>T (n.*82A>T)
n.952A>T
c.156A>T (p.Ala52=)
2g.101412964T>CCA427793238RFX8c.1008A>G (p.Ala336=)
c.669A>G (p.Ala223=)
c.882A>G (p.Ala294=)
c.795A>G (p.Ala265=)
c.*385A>G (n.*385A>G)
c.897A>G (p.Ala299=)
c.579A>G (p.Ala193=)
c.381A>G (p.Ala127=)
c.*82A>G (n.*82A>G)
n.952A>G
c.156A>G (p.Ala52=)
 gnomAD v4
2g.101412964T>GCA427793239RFX8c.1008A>C (p.Ala336=)
c.669A>C (p.Ala223=)
c.882A>C (p.Ala294=)
c.795A>C (p.Ala265=)
c.*385A>C (n.*385A>C)
c.897A>C (p.Ala299=)
c.579A>C (p.Ala193=)
c.381A>C (p.Ala127=)
c.*82A>C (n.*82A>C)
n.952A>C
c.156A>C (p.Ala52=)
2g.101412965delCA2660437695RFX8c.1007del (p.Ala336GlufsTer16)
c.668del (p.Ala223GlufsTer16)
c.881del (p.Ala294GlufsTer16)
c.794del (p.Ala265GlufsTer16)
c.*384del (n.*384del)
c.896del (p.Ala299GlufsTer16)
c.578del (p.Ala193GlufsTer16)
c.380del (p.Ala127GlufsTer16)
c.*81del (n.*81del)
n.951del
c.155del (p.Ala52GlufsTer16)
 gnomAD v4
2g.101412965G>ACA347974365RFX8c.1007C>T (p.Ala336Val)
c.668C>T (p.Ala223Val)
c.881C>T (p.Ala294Val)
c.794C>T (p.Ala265Val)
c.*384C>T (n.*384C>T)
c.896C>T (p.Ala299Val)
c.578C>T (p.Ala193Val)
c.380C>T (p.Ala127Val)
c.*81C>T (n.*81C>T)
n.951C>T
c.155C>T (p.Ala52Val)
2g.101412965G>CCA347974366RFX8c.1007C>G (p.Ala336Gly)
c.668C>G (p.Ala223Gly)
c.881C>G (p.Ala294Gly)
c.794C>G (p.Ala265Gly)
c.*384C>G (n.*384C>G)
c.896C>G (p.Ala299Gly)
c.578C>G (p.Ala193Gly)
c.380C>G (p.Ala127Gly)
c.*81C>G (n.*81C>G)
n.951C>G
c.155C>G (p.Ala52Gly)
2g.101412965G>TCA347974367RFX8c.1007C>A (p.Ala336Glu)
c.668C>A (p.Ala223Glu)
c.881C>A (p.Ala294Glu)
c.794C>A (p.Ala265Glu)
c.*384C>A (n.*384C>A)
c.896C>A (p.Ala299Glu)
c.578C>A (p.Ala193Glu)
c.380C>A (p.Ala127Glu)
c.*81C>A (n.*81C>A)
n.951C>A
c.155C>A (p.Ala52Glu)
2g.101412966C>ACA347974368RFX8c.1006G>T (p.Ala336Ser)
c.667G>T (p.Ala223Ser)
c.880G>T (p.Ala294Ser)
c.793G>T (p.Ala265Ser)
c.*383G>T (n.*383G>T)
c.895G>T (p.Ala299Ser)
c.577G>T (p.Ala193Ser)
c.379G>T (p.Ala127Ser)
c.*80G>T (n.*80G>T)
n.950G>T
c.154G>T (p.Ala52Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.101412966C=CA1274778586RFX8c.1006G= (p.Ala336=)
c.667G= (p.Ala223=)
c.880G= (p.Ala294=)
c.793G= (p.Ala265=)
c.*383G= (n.*383G=)
c.895G= (p.Ala299=)
c.577G= (p.Ala193=)
c.379G= (p.Ala127=)
c.*80G= (n.*80G=)
n.950G=
c.154G= (p.Ala52=)
2g.101412966C>GCA347974369RFX8c.1006G>C (p.Ala336Pro)
c.667G>C (p.Ala223Pro)
c.880G>C (p.Ala294Pro)
c.793G>C (p.Ala265Pro)
c.*383G>C (n.*383G>C)
c.895G>C (p.Ala299Pro)
c.577G>C (p.Ala193Pro)
c.379G>C (p.Ala127Pro)
c.*80G>C (n.*80G>C)
n.950G>C
c.154G>C (p.Ala52Pro)
2g.101412966C>TCA347974370RFX8c.1006G>A (p.Ala336Thr)
c.667G>A (p.Ala223Thr)
c.880G>A (p.Ala294Thr)
c.793G>A (p.Ala265Thr)
c.*383G>A (n.*383G>A)
c.895G>A (p.Ala299Thr)
c.577G>A (p.Ala193Thr)
c.379G>A (p.Ala127Thr)
c.*80G>A (n.*80G>A)
n.950G>A
c.154G>A (p.Ala52Thr)
2g.101412967C>ACA427793248RFX8c.1005G>T (p.Leu335=)
c.666G>T (p.Leu222=)
c.879G>T (p.Leu293=)
c.792G>T (p.Leu264=)
c.*382G>T (n.*382G>T)
c.894G>T (p.Leu298=)
c.576G>T (p.Leu192=)
c.378G>T (p.Leu126=)
c.*79G>T (n.*79G>T)
n.949G>T
c.153G>T (p.Leu51=)
2g.101412967C>GCA427793251RFX8c.1005G>C (p.Leu335=)
c.666G>C (p.Leu222=)
c.879G>C (p.Leu293=)
c.792G>C (p.Leu264=)
c.*382G>C (n.*382G>C)
c.894G>C (p.Leu298=)
c.576G>C (p.Leu192=)
c.378G>C (p.Leu126=)
c.*79G>C (n.*79G>C)
n.949G>C
c.153G>C (p.Leu51=)
2g.101412967C>TCA427793253RFX8c.1005G>A (p.Leu335=)
c.666G>A (p.Leu222=)
c.879G>A (p.Leu293=)
c.792G>A (p.Leu264=)
c.*382G>A (n.*382G>A)
c.894G>A (p.Leu298=)
c.576G>A (p.Leu192=)
c.378G>A (p.Leu126=)
c.*79G>A (n.*79G>A)
n.949G>A
c.153G>A (p.Leu51=)
2g.101412968A=CA1274778587RFX8c.1004T= (p.Leu335=)
c.665T= (p.Leu222=)
c.878T= (p.Leu293=)
c.791T= (p.Leu264=)
c.*381T= (n.*381T=)
c.893T= (p.Leu298=)
c.575T= (p.Leu192=)
c.377T= (p.Leu126=)
c.*78T= (n.*78T=)
n.948T=
c.152T= (p.Leu51=)
2g.101412968A>CCA53230240RFX8c.1004T>G (p.Leu335Arg)
c.665T>G (p.Leu222Arg)
c.878T>G (p.Leu293Arg)
c.791T>G (p.Leu264Arg)
c.*381T>G (n.*381T>G)
c.893T>G (p.Leu298Arg)
c.575T>G (p.Leu192Arg)
c.377T>G (p.Leu126Arg)
c.*78T>G (n.*78T>G)
n.948T>G
c.152T>G (p.Leu51Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.101412968A>GCA347974371RFX8c.1004T>C (p.Leu335Pro)
c.665T>C (p.Leu222Pro)
c.878T>C (p.Leu293Pro)
c.791T>C (p.Leu264Pro)
c.*381T>C (n.*381T>C)
c.893T>C (p.Leu298Pro)
c.575T>C (p.Leu192Pro)
c.377T>C (p.Leu126Pro)
c.*78T>C (n.*78T>C)
n.948T>C
c.152T>C (p.Leu51Pro)
2g.101412968A>TCA347974372RFX8c.1004T>A (p.Leu335Gln)
c.665T>A (p.Leu222Gln)
c.878T>A (p.Leu293Gln)
c.791T>A (p.Leu264Gln)
c.*381T>A (n.*381T>A)
c.893T>A (p.Leu298Gln)
c.575T>A (p.Leu192Gln)
c.377T>A (p.Leu126Gln)
c.*78T>A (n.*78T>A)
n.948T>A
c.152T>A (p.Leu51Gln)
2g.101412969G>ACA427793260RFX8c.1003C>T (p.Leu335=)
c.664C>T (p.Leu222=)
c.877C>T (p.Leu293=)
c.790C>T (p.Leu264=)
c.*380C>T (n.*380C>T)
c.892C>T (p.Leu298=)
c.574C>T (p.Leu192=)
c.376C>T (p.Leu126=)
c.*77C>T (n.*77C>T)
n.947C>T
c.151C>T (p.Leu51=)
2g.101412969G>CCA347974373RFX8c.1003C>G (p.Leu335Val)
c.664C>G (p.Leu222Val)
c.877C>G (p.Leu293Val)
c.790C>G (p.Leu264Val)
c.*380C>G (n.*380C>G)
c.892C>G (p.Leu298Val)
c.574C>G (p.Leu192Val)
c.376C>G (p.Leu126Val)
c.*77C>G (n.*77C>G)
n.947C>G
c.151C>G (p.Leu51Val)
2g.101412969G>TCA347974374RFX8c.1003C>A (p.Leu335Met)
c.664C>A (p.Leu222Met)
c.877C>A (p.Leu293Met)
c.790C>A (p.Leu264Met)
c.*380C>A (n.*380C>A)
c.892C>A (p.Leu298Met)
c.574C>A (p.Leu192Met)
c.376C>A (p.Leu126Met)
c.*77C>A (n.*77C>A)
n.947C>A
c.151C>A (p.Leu51Met)
 gnomAD v4
2g.101412970G>ACA427793264RFX8c.1002C>T (p.Ala334=)
c.663C>T (p.Ala221=)
c.876C>T (p.Ala292=)
c.789C>T (p.Ala263=)
c.*379C>T (n.*379C>T)
c.891C>T (p.Ala297=)
c.573C>T (p.Ala191=)
c.375C>T (p.Ala125=)
c.*76C>T (n.*76C>T)
n.946C>T
c.150C>T (p.Ala50=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101412970G>CCA427793267RFX8c.1002C>G (p.Ala334=)
c.663C>G (p.Ala221=)
c.876C>G (p.Ala292=)
c.789C>G (p.Ala263=)
c.*379C>G (n.*379C>G)
c.891C>G (p.Ala297=)
c.573C>G (p.Ala191=)
c.375C>G (p.Ala125=)
c.*76C>G (n.*76C>G)
n.946C>G
c.150C>G (p.Ala50=)
2g.101412970G=CA1274778588RFX8c.1002C= (p.Ala334=)
c.663C= (p.Ala221=)
c.876C= (p.Ala292=)
c.789C= (p.Ala263=)
c.*379C= (n.*379C=)
c.891C= (p.Ala297=)
c.573C= (p.Ala191=)
c.375C= (p.Ala125=)
c.*76C= (n.*76C=)
n.946C=
c.150C= (p.Ala50=)
2g.101412970G>TCA427793269RFX8c.1002C>A (p.Ala334=)
c.663C>A (p.Ala221=)
c.876C>A (p.Ala292=)
c.789C>A (p.Ala263=)
c.*379C>A (n.*379C>A)
c.891C>A (p.Ala297=)
c.573C>A (p.Ala191=)
c.375C>A (p.Ala125=)
c.*76C>A (n.*76C>A)
n.946C>A
c.150C>A (p.Ala50=)
2g.101412971G>ACA347974375RFX8c.1001C>T (p.Ala334Val)
c.662C>T (p.Ala221Val)
c.875C>T (p.Ala292Val)
c.788C>T (p.Ala263Val)
c.*378C>T (n.*378C>T)
c.890C>T (p.Ala297Val)
c.572C>T (p.Ala191Val)
c.374C>T (p.Ala125Val)
c.*75C>T (n.*75C>T)
n.945C>T
c.149C>T (p.Ala50Val)
 gnomAD v4
2g.101412971G>CCA347974376RFX8c.1001C>G (p.Ala334Gly)
c.662C>G (p.Ala221Gly)
c.875C>G (p.Ala292Gly)
c.788C>G (p.Ala263Gly)
c.*378C>G (n.*378C>G)
c.890C>G (p.Ala297Gly)
c.572C>G (p.Ala191Gly)
c.374C>G (p.Ala125Gly)
c.*75C>G (n.*75C>G)
n.945C>G
c.149C>G (p.Ala50Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101412971G=CA1274778589RFX8c.1001C= (p.Ala334=)
c.662C= (p.Ala221=)
c.875C= (p.Ala292=)
c.788C= (p.Ala263=)
c.*378C= (n.*378C=)
c.890C= (p.Ala297=)
c.572C= (p.Ala191=)
c.374C= (p.Ala125=)
c.*75C= (n.*75C=)
n.945C=
c.149C= (p.Ala50=)
2g.101412971G>TCA347974377RFX8c.1001C>A (p.Ala334Asp)
c.662C>A (p.Ala221Asp)
c.875C>A (p.Ala292Asp)
c.788C>A (p.Ala263Asp)
c.*378C>A (n.*378C>A)
c.890C>A (p.Ala297Asp)
c.572C>A (p.Ala191Asp)
c.374C>A (p.Ala125Asp)
c.*75C>A (n.*75C>A)
n.945C>A
c.149C>A (p.Ala50Asp)
 gnomAD v4
2g.101412972C>ACA347974378RFX8c.1000G>T (p.Ala334Ser)
c.661G>T (p.Ala221Ser)
c.874G>T (p.Ala292Ser)
c.787G>T (p.Ala263Ser)
c.*377G>T (n.*377G>T)
c.889G>T (p.Ala297Ser)
c.571G>T (p.Ala191Ser)
c.373G>T (p.Ala125Ser)
c.*74G>T (n.*74G>T)
n.944G>T
c.148G>T (p.Ala50Ser)
2g.101412972C=CA1274778590RFX8c.1000G= (p.Ala334=)
c.661G= (p.Ala221=)
c.874G= (p.Ala292=)
c.787G= (p.Ala263=)
c.*377G= (n.*377G=)
c.889G= (p.Ala297=)
c.571G= (p.Ala191=)
c.373G= (p.Ala125=)
c.*74G= (n.*74G=)
n.944G=
c.148G= (p.Ala50=)
2g.101412972C>GCA347974379RFX8c.1000G>C (p.Ala334Pro)
c.661G>C (p.Ala221Pro)
c.874G>C (p.Ala292Pro)
c.787G>C (p.Ala263Pro)
c.*377G>C (n.*377G>C)
c.889G>C (p.Ala297Pro)
c.571G>C (p.Ala191Pro)
c.373G>C (p.Ala125Pro)
c.*74G>C (n.*74G>C)
n.944G>C
c.148G>C (p.Ala50Pro)
2g.101412972C>TCA347974380RFX8c.1000G>A (p.Ala334Thr)
c.661G>A (p.Ala221Thr)
c.874G>A (p.Ala292Thr)
c.787G>A (p.Ala263Thr)
c.*377G>A (n.*377G>A)
c.889G>A (p.Ala297Thr)
c.571G>A (p.Ala191Thr)
c.373G>A (p.Ala125Thr)
c.*74G>A (n.*74G>A)
n.944G>A
c.148G>A (p.Ala50Thr)
 dbSNP gnomAD v4
2g.101412973T>ACA347974381RFX8c.999A>T (p.Lys333Asn)
c.660A>T (p.Lys220Asn)
c.873A>T (p.Lys291Asn)
c.786A>T (p.Lys262Asn)
c.*376A>T (n.*376A>T)
c.888A>T (p.Lys296Asn)
c.570A>T (p.Lys190Asn)
c.372A>T (p.Lys124Asn)
c.*73A>T (n.*73A>T)
n.943A>T
c.147A>T (p.Lys49Asn)
2g.101412973T>CCA427793282RFX8c.999A>G (p.Lys333=)
c.660A>G (p.Lys220=)
c.873A>G (p.Lys291=)
c.786A>G (p.Lys262=)
c.*376A>G (n.*376A>G)
c.888A>G (p.Lys296=)
c.570A>G (p.Lys190=)
c.372A>G (p.Lys124=)
c.*73A>G (n.*73A>G)
n.943A>G
c.147A>G (p.Lys49=)
2g.101412973T>GCA347974382RFX8c.999A>C (p.Lys333Asn)
c.660A>C (p.Lys220Asn)
c.873A>C (p.Lys291Asn)
c.786A>C (p.Lys262Asn)
c.*376A>C (n.*376A>C)
c.888A>C (p.Lys296Asn)
c.570A>C (p.Lys190Asn)
c.372A>C (p.Lys124Asn)
c.*73A>C (n.*73A>C)
n.943A>C
c.147A>C (p.Lys49Asn)
2g.101412974T>ACA347974383RFX8c.998A>T (p.Lys333Ile)
c.659A>T (p.Lys220Ile)
c.872A>T (p.Lys291Ile)
c.785A>T (p.Lys262Ile)
c.*375A>T (n.*375A>T)
c.887A>T (p.Lys296Ile)
c.569A>T (p.Lys190Ile)
c.371A>T (p.Lys124Ile)
c.*72A>T (n.*72A>T)
n.942A>T
c.146A>T (p.Lys49Ile)
 gnomAD v4
2g.101412974T>CCA347974384RFX8c.998A>G (p.Lys333Arg)
c.659A>G (p.Lys220Arg)
c.872A>G (p.Lys291Arg)
c.785A>G (p.Lys262Arg)
c.*375A>G (n.*375A>G)
c.887A>G (p.Lys296Arg)
c.569A>G (p.Lys190Arg)
c.371A>G (p.Lys124Arg)
c.*72A>G (n.*72A>G)
n.942A>G
c.146A>G (p.Lys49Arg)
2g.101412974T>GCA347974385RFX8c.998A>C (p.Lys333Thr)
c.659A>C (p.Lys220Thr)
c.872A>C (p.Lys291Thr)
c.785A>C (p.Lys262Thr)
c.*375A>C (n.*375A>C)
c.887A>C (p.Lys296Thr)
c.569A>C (p.Lys190Thr)
c.371A>C (p.Lys124Thr)
c.*72A>C (n.*72A>C)
n.942A>C
c.146A>C (p.Lys49Thr)
2g.101412975T>ACA347974386RFX8c.997A>T (p.Lys333Ter)
c.658A>T (p.Lys220Ter)
c.871A>T (p.Lys291Ter)
c.784A>T (p.Lys262Ter)
c.*374A>T (n.*374A>T)
c.886A>T (p.Lys296Ter)
c.568A>T (p.Lys190Ter)
c.370A>T (p.Lys124Ter)
c.*71A>T (n.*71A>T)
n.941A>T
c.145A>T (p.Lys49Ter)
2g.101412975T>CCA347974387RFX8c.997A>G (p.Lys333Glu)
c.658A>G (p.Lys220Glu)
c.871A>G (p.Lys291Glu)
c.784A>G (p.Lys262Glu)
c.*374A>G (n.*374A>G)
c.886A>G (p.Lys296Glu)
c.568A>G (p.Lys190Glu)
c.370A>G (p.Lys124Glu)
c.*71A>G (n.*71A>G)
n.941A>G
c.145A>G (p.Lys49Glu)
2g.101412975T>GCA347974388RFX8c.997A>C (p.Lys333Gln)
c.658A>C (p.Lys220Gln)
c.871A>C (p.Lys291Gln)
c.784A>C (p.Lys262Gln)
c.*374A>C (n.*374A>C)
c.886A>C (p.Lys296Gln)
c.568A>C (p.Lys190Gln)
c.370A>C (p.Lys124Gln)
c.*71A>C (n.*71A>C)
n.941A>C
c.145A>C (p.Lys49Gln)
2g.101412976C>ACA347974389RFX8c.996G>T (p.Lys332Asn)
c.657G>T (p.Lys219Asn)
c.870G>T (p.Lys290Asn)
c.783G>T (p.Lys261Asn)
c.*373G>T (n.*373G>T)
c.885G>T (p.Lys295Asn)
c.567G>T (p.Lys189Asn)
c.369G>T (p.Lys123Asn)
c.*70G>T (n.*70G>T)
n.940G>T
c.144G>T (p.Lys48Asn)
2g.101412976C=CA1274778591RFX8c.996G= (p.Lys332=)
c.657G= (p.Lys219=)
c.870G= (p.Lys290=)
c.783G= (p.Lys261=)
c.*373G= (n.*373G=)
c.885G= (p.Lys295=)
c.567G= (p.Lys189=)
c.369G= (p.Lys123=)
c.*70G= (n.*70G=)
n.940G=
c.144G= (p.Lys48=)
2g.101412976C>GCA347974390RFX8c.996G>C (p.Lys332Asn)
c.657G>C (p.Lys219Asn)
c.870G>C (p.Lys290Asn)
c.783G>C (p.Lys261Asn)
c.*373G>C (n.*373G>C)
c.885G>C (p.Lys295Asn)
c.567G>C (p.Lys189Asn)
c.369G>C (p.Lys123Asn)
c.*70G>C (n.*70G>C)
n.940G>C
c.144G>C (p.Lys48Asn)
2g.101412976C>TCA427793295RFX8c.996G>A (p.Lys332=)
c.657G>A (p.Lys219=)
c.870G>A (p.Lys290=)
c.783G>A (p.Lys261=)
c.*373G>A (n.*373G>A)
c.885G>A (p.Lys295=)
c.567G>A (p.Lys189=)
c.369G>A (p.Lys123=)
c.*70G>A (n.*70G>A)
n.940G>A
c.144G>A (p.Lys48=)
 dbSNP gnomAD v2
2g.101412977T>ACA347974391RFX8c.995A>T (p.Lys332Met)
c.656A>T (p.Lys219Met)
c.869A>T (p.Lys290Met)
c.782A>T (p.Lys261Met)
c.*372A>T (n.*372A>T)
c.884A>T (p.Lys295Met)
c.566A>T (p.Lys189Met)
c.368A>T (p.Lys123Met)
c.*69A>T (n.*69A>T)
n.939A>T
c.143A>T (p.Lys48Met)
2g.101412977T>CCA347974392RFX8c.995A>G (p.Lys332Arg)
c.656A>G (p.Lys219Arg)
c.869A>G (p.Lys290Arg)
c.782A>G (p.Lys261Arg)
c.*372A>G (n.*372A>G)
c.884A>G (p.Lys295Arg)
c.566A>G (p.Lys189Arg)
c.368A>G (p.Lys123Arg)
c.*69A>G (n.*69A>G)
n.939A>G
c.143A>G (p.Lys48Arg)
2g.101412977T>GCA347974393RFX8c.995A>C (p.Lys332Thr)
c.656A>C (p.Lys219Thr)
c.869A>C (p.Lys290Thr)
c.782A>C (p.Lys261Thr)
c.*372A>C (n.*372A>C)
c.884A>C (p.Lys295Thr)
c.566A>C (p.Lys189Thr)
c.368A>C (p.Lys123Thr)
c.*69A>C (n.*69A>C)
n.939A>C
c.143A>C (p.Lys48Thr)
2g.101412978T>ACA347974394RFX8c.994A>T (p.Lys332Ter)
c.655A>T (p.Lys219Ter)
c.868A>T (p.Lys290Ter)
c.781A>T (p.Lys261Ter)
c.*371A>T (n.*371A>T)
c.883A>T (p.Lys295Ter)
c.565A>T (p.Lys189Ter)
c.367A>T (p.Lys123Ter)
c.*68A>T (n.*68A>T)
n.938A>T
c.142A>T (p.Lys48Ter)
2g.101412978T>CCA347974395RFX8c.994A>G (p.Lys332Glu)
c.655A>G (p.Lys219Glu)
c.868A>G (p.Lys290Glu)
c.781A>G (p.Lys261Glu)
c.*371A>G (n.*371A>G)
c.883A>G (p.Lys295Glu)
c.565A>G (p.Lys189Glu)
c.367A>G (p.Lys123Glu)
c.*68A>G (n.*68A>G)
n.938A>G
c.142A>G (p.Lys48Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.101412978T>GCA347974396RFX8c.994A>C (p.Lys332Gln)
c.655A>C (p.Lys219Gln)
c.868A>C (p.Lys290Gln)
c.781A>C (p.Lys261Gln)
c.*371A>C (n.*371A>C)
c.883A>C (p.Lys295Gln)
c.565A>C (p.Lys189Gln)
c.367A>C (p.Lys123Gln)
c.*68A>C (n.*68A>C)
n.938A>C
c.142A>C (p.Lys48Gln)
2g.101412978T=CA1274778592RFX8c.994A= (p.Lys332=)
c.655A= (p.Lys219=)
c.868A= (p.Lys290=)
c.781A= (p.Lys261=)
c.*371A= (n.*371A=)
c.883A= (p.Lys295=)
c.565A= (p.Lys189=)
c.367A= (p.Lys123=)
c.*68A= (n.*68A=)
n.938A=
c.142A= (p.Lys48=)
2g.101412979A>CCA427793307RFX8c.993T>G (p.Ser331=)
c.654T>G (p.Ser218=)
c.867T>G (p.Ser289=)
c.780T>G (p.Ser260=)
c.*370T>G (n.*370T>G)
c.882T>G (p.Ser294=)
c.564T>G (p.Ser188=)
c.366T>G (p.Ser122=)
c.*67T>G (n.*67T>G)
n.937T>G
c.141T>G (p.Ser47=)
2g.101412979A>GCA427793310RFX8c.993T>C (p.Ser331=)
c.654T>C (p.Ser218=)
c.867T>C (p.Ser289=)
c.780T>C (p.Ser260=)
c.*370T>C (n.*370T>C)
c.882T>C (p.Ser294=)
c.564T>C (p.Ser188=)
c.366T>C (p.Ser122=)
c.*67T>C (n.*67T>C)
n.937T>C
c.141T>C (p.Ser47=)
2g.101412979A>TCA427793309RFX8c.993T>A (p.Ser331=)
c.654T>A (p.Ser218=)
c.867T>A (p.Ser289=)
c.780T>A (p.Ser260=)
c.*370T>A (n.*370T>A)
c.882T>A (p.Ser294=)
c.564T>A (p.Ser188=)
c.366T>A (p.Ser122=)
c.*67T>A (n.*67T>A)
n.937T>A
c.141T>A (p.Ser47=)
 gnomAD v4
2g.101412980G>ACA347974397RFX8c.992C>T (p.Ser331Phe)
c.653C>T (p.Ser218Phe)
c.866C>T (p.Ser289Phe)
c.779C>T (p.Ser260Phe)
c.*369C>T (n.*369C>T)
c.881C>T (p.Ser294Phe)
c.563C>T (p.Ser188Phe)
c.365C>T (p.Ser122Phe)
c.*66C>T (n.*66C>T)
n.936C>T
c.140C>T (p.Ser47Phe)
2g.101412980G>CCA347974398RFX8c.992C>G (p.Ser331Cys)
c.653C>G (p.Ser218Cys)
c.866C>G (p.Ser289Cys)
c.779C>G (p.Ser260Cys)
c.*369C>G (n.*369C>G)
c.881C>G (p.Ser294Cys)
c.563C>G (p.Ser188Cys)
c.365C>G (p.Ser122Cys)
c.*66C>G (n.*66C>G)
n.936C>G
c.140C>G (p.Ser47Cys)
2g.101412980G>TCA347974399RFX8c.992C>A (p.Ser331Tyr)
c.653C>A (p.Ser218Tyr)
c.866C>A (p.Ser289Tyr)
c.779C>A (p.Ser260Tyr)
c.*369C>A (n.*369C>A)
c.881C>A (p.Ser294Tyr)
c.563C>A (p.Ser188Tyr)
c.365C>A (p.Ser122Tyr)
c.*66C>A (n.*66C>A)
n.936C>A
c.140C>A (p.Ser47Tyr)
2g.101412981A>CCA347974400RFX8c.991T>G (p.Ser331Ala)
c.652T>G (p.Ser218Ala)
c.865T>G (p.Ser289Ala)
c.778T>G (p.Ser260Ala)
c.*368T>G (n.*368T>G)
c.880T>G (p.Ser294Ala)
c.562T>G (p.Ser188Ala)
c.364T>G (p.Ser122Ala)
c.*65T>G (n.*65T>G)
n.935T>G
c.139T>G (p.Ser47Ala)
2g.101412981A>GCA347974401RFX8c.991T>C (p.Ser331Pro)
c.652T>C (p.Ser218Pro)
c.865T>C (p.Ser289Pro)
c.778T>C (p.Ser260Pro)
c.*368T>C (n.*368T>C)
c.880T>C (p.Ser294Pro)
c.562T>C (p.Ser188Pro)
c.364T>C (p.Ser122Pro)
c.*65T>C (n.*65T>C)
n.935T>C
c.139T>C (p.Ser47Pro)
2g.101412981A>TCA347974402RFX8c.991T>A (p.Ser331Thr)
c.652T>A (p.Ser218Thr)
c.865T>A (p.Ser289Thr)
c.778T>A (p.Ser260Thr)
c.*368T>A (n.*368T>A)
c.880T>A (p.Ser294Thr)
c.562T>A (p.Ser188Thr)
c.364T>A (p.Ser122Thr)
c.*65T>A (n.*65T>A)
n.935T>A
c.139T>A (p.Ser47Thr)
2g.101412982A>CCA427793323RFX8c.990T>G (p.Thr330=)
c.651T>G (p.Thr217=)
c.864T>G (p.Thr288=)
c.777T>G (p.Thr259=)
c.*367T>G (n.*367T>G)
c.879T>G (p.Thr293=)
c.561T>G (p.Thr187=)
c.363T>G (p.Thr121=)
c.*64T>G (n.*64T>G)
n.934T>G
c.138T>G (p.Thr46=)
 gnomAD v4
2g.101412982A>GCA427793326RFX8c.990T>C (p.Thr330=)
c.651T>C (p.Thr217=)
c.864T>C (p.Thr288=)
c.777T>C (p.Thr259=)
c.*367T>C (n.*367T>C)
c.879T>C (p.Thr293=)
c.561T>C (p.Thr187=)
c.363T>C (p.Thr121=)
c.*64T>C (n.*64T>C)
n.934T>C
c.138T>C (p.Thr46=)
 gnomAD v4
2g.101412982A>TCA427793328RFX8c.990T>A (p.Thr330=)
c.651T>A (p.Thr217=)
c.864T>A (p.Thr288=)
c.777T>A (p.Thr259=)
c.*367T>A (n.*367T>A)
c.879T>A (p.Thr293=)
c.561T>A (p.Thr187=)
c.363T>A (p.Thr121=)
c.*64T>A (n.*64T>A)
n.934T>A
c.138T>A (p.Thr46=)
2g.101412982_101412984delinsAGTCA1274778593RFX8c.988_990delinsACT (p.Thr330=)
c.649_651delinsACT (p.Thr217=)
c.862_864delinsACT (p.Thr288=)
c.775_777delinsACT (p.Thr259=)
c.*365_*367delinsACT (n.*365_*367delinsACT)
c.877_879delinsACT (p.Thr293=)
c.559_561delinsACT (p.Thr187=)
c.361_363delinsACT (p.Thr121=)
c.*62_*64delinsACT (n.*62_*64delinsACT)
n.932_934delinsACT
c.136_138delinsACT (p.Thr46=)
2g.101412983G>ACA347974405RFX8c.989C>T (p.Thr330Ile)
c.650C>T (p.Thr217Ile)
c.863C>T (p.Thr288Ile)
c.776C>T (p.Thr259Ile)
c.*366C>T (n.*366C>T)
c.878C>T (p.Thr293Ile)
c.560C>T (p.Thr187Ile)
c.362C>T (p.Thr121Ile)
c.*63C>T (n.*63C>T)
n.933C>T
c.137C>T (p.Thr46Ile)
2g.101412983G>CCA347974404RFX8c.989C>G (p.Thr330Ser)
c.650C>G (p.Thr217Ser)
c.863C>G (p.Thr288Ser)
c.776C>G (p.Thr259Ser)
c.*366C>G (n.*366C>G)
c.878C>G (p.Thr293Ser)
c.560C>G (p.Thr187Ser)
c.362C>G (p.Thr121Ser)
c.*63C>G (n.*63C>G)
n.933C>G
c.137C>G (p.Thr46Ser)
2g.101412983G>TCA347974403RFX8c.989C>A (p.Thr330Asn)
c.650C>A (p.Thr217Asn)
c.863C>A (p.Thr288Asn)
c.776C>A (p.Thr259Asn)
c.*366C>A (n.*366C>A)
c.878C>A (p.Thr293Asn)
c.560C>A (p.Thr187Asn)
c.362C>A (p.Thr121Asn)
c.*63C>A (n.*63C>A)
n.933C>A
c.137C>A (p.Thr46Asn)
2g.101412983_101412984delCA535107060RFX8c.988_989del (p.Thr330PhefsTer2)
c.649_650del (p.Thr217PhefsTer2)
c.862_863del (p.Thr288PhefsTer2)
c.775_776del (p.Thr259PhefsTer2)
c.*365_*366del (n.*365_*366del)
c.877_878del (p.Thr293PhefsTer2)
c.559_560del (p.Thr187PhefsTer2)
c.361_362del (p.Thr121PhefsTer2)
c.*62_*63del (n.*62_*63del)
n.932_933del
c.136_137del (p.Thr46PhefsTer2)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101412984T>ACA347974406RFX8c.988A>T (p.Thr330Ser)
c.649A>T (p.Thr217Ser)
c.862A>T (p.Thr288Ser)
c.775A>T (p.Thr259Ser)
c.*365A>T (n.*365A>T)
c.877A>T (p.Thr293Ser)
c.559A>T (p.Thr187Ser)
c.361A>T (p.Thr121Ser)
c.*62A>T (n.*62A>T)
n.932A>T
c.136A>T (p.Thr46Ser)
 gnomAD v4
2g.101412984T>CCA347974408RFX8c.988A>G (p.Thr330Ala)
c.649A>G (p.Thr217Ala)
c.862A>G (p.Thr288Ala)
c.775A>G (p.Thr259Ala)
c.*365A>G (n.*365A>G)
c.877A>G (p.Thr293Ala)
c.559A>G (p.Thr187Ala)
c.361A>G (p.Thr121Ala)
c.*62A>G (n.*62A>G)
n.932A>G
c.136A>G (p.Thr46Ala)
 gnomAD v4
2g.101412984T>GCA347974407RFX8c.988A>C (p.Thr330Pro)
c.649A>C (p.Thr217Pro)
c.862A>C (p.Thr288Pro)
c.775A>C (p.Thr259Pro)
c.*365A>C (n.*365A>C)
c.877A>C (p.Thr293Pro)
c.559A>C (p.Thr187Pro)
c.361A>C (p.Thr121Pro)
c.*62A>C (n.*62A>C)
n.932A>C
c.136A>C (p.Thr46Pro)
 gnomAD v4
2g.101412985A=CA1274778594RFX8c.987T= (p.Ala329=)
c.648T= (p.Ala216=)
c.861T= (p.Ala287=)
c.774T= (p.Ala258=)
c.*364T= (n.*364T=)
c.876T= (p.Ala292=)
c.558T= (p.Ala186=)
c.360T= (p.Ala120=)
c.*61T= (n.*61T=)
n.931T=
c.135T= (p.Ala45=)
2g.101412985A>CCA427793341RFX8c.987T>G (p.Ala329=)
c.648T>G (p.Ala216=)
c.861T>G (p.Ala287=)
c.774T>G (p.Ala258=)
c.*364T>G (n.*364T>G)
c.876T>G (p.Ala292=)
c.558T>G (p.Ala186=)
c.360T>G (p.Ala120=)
c.*61T>G (n.*61T>G)
n.931T>G
c.135T>G (p.Ala45=)
2g.101412985A>GCA427793344RFX8c.987T>C (p.Ala329=)
c.648T>C (p.Ala216=)
c.861T>C (p.Ala287=)
c.774T>C (p.Ala258=)
c.*364T>C (n.*364T>C)
c.876T>C (p.Ala292=)
c.558T>C (p.Ala186=)
c.360T>C (p.Ala120=)
c.*61T>C (n.*61T>C)
n.931T>C
c.135T>C (p.Ala45=)
 dbSNP
2g.101412985A>TCA427793348RFX8c.987T>A (p.Ala329=)
c.648T>A (p.Ala216=)
c.861T>A (p.Ala287=)
c.774T>A (p.Ala258=)
c.*364T>A (n.*364T>A)
c.876T>A (p.Ala292=)
c.558T>A (p.Ala186=)
c.360T>A (p.Ala120=)
c.*61T>A (n.*61T>A)
n.931T>A
c.135T>A (p.Ala45=)
2g.101412986G>ACA1806430RFX8c.986C>T (p.Ala329Val)
c.647C>T (p.Ala216Val)
c.860C>T (p.Ala287Val)
c.773C>T (p.Ala258Val)
c.*363C>T (n.*363C>T)
c.875C>T (p.Ala292Val)
c.557C>T (p.Ala186Val)
c.359C>T (p.Ala120Val)
c.*60C>T (n.*60C>T)
n.930C>T
c.134C>T (p.Ala45Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.101412986G>CCA347974410RFX8c.986C>G (p.Ala329Gly)
c.647C>G (p.Ala216Gly)
c.860C>G (p.Ala287Gly)
c.773C>G (p.Ala258Gly)
c.*363C>G (n.*363C>G)
c.875C>G (p.Ala292Gly)
c.557C>G (p.Ala186Gly)
c.359C>G (p.Ala120Gly)
c.*60C>G (n.*60C>G)
n.930C>G
c.134C>G (p.Ala45Gly)
2g.101412986G=CA1274778595RFX8c.986C= (p.Ala329=)
c.647C= (p.Ala216=)
c.860C= (p.Ala287=)
c.773C= (p.Ala258=)
c.*363C= (n.*363C=)
c.875C= (p.Ala292=)
c.557C= (p.Ala186=)
c.359C= (p.Ala120=)
c.*60C= (n.*60C=)
n.930C=
c.134C= (p.Ala45=)
2g.101412986G>TCA347974409RFX8c.986C>A (p.Ala329Asp)
c.647C>A (p.Ala216Asp)
c.860C>A (p.Ala287Asp)
c.773C>A (p.Ala258Asp)
c.*363C>A (n.*363C>A)
c.875C>A (p.Ala292Asp)
c.557C>A (p.Ala186Asp)
c.359C>A (p.Ala120Asp)
c.*60C>A (n.*60C>A)
n.930C>A
c.134C>A (p.Ala45Asp)
2g.101412987C>ACA347974411RFX8c.985G>T (p.Ala329Ser)
c.646G>T (p.Ala216Ser)
c.859G>T (p.Ala287Ser)
c.772G>T (p.Ala258Ser)
c.*362G>T (n.*362G>T)
c.874G>T (p.Ala292Ser)
c.556G>T (p.Ala186Ser)
c.358G>T (p.Ala120Ser)
c.*59G>T (n.*59G>T)
n.929G>T
c.133G>T (p.Ala45Ser)
2g.101412987C>GCA347974413RFX8c.985G>C (p.Ala329Pro)
c.646G>C (p.Ala216Pro)
c.859G>C (p.Ala287Pro)
c.772G>C (p.Ala258Pro)
c.*362G>C (n.*362G>C)
c.874G>C (p.Ala292Pro)
c.556G>C (p.Ala186Pro)
c.358G>C (p.Ala120Pro)
c.*59G>C (n.*59G>C)
n.929G>C
c.133G>C (p.Ala45Pro)
2g.101412987C>TCA347974412RFX8c.985G>A (p.Ala329Thr)
c.646G>A (p.Ala216Thr)
c.859G>A (p.Ala287Thr)
c.772G>A (p.Ala258Thr)
c.*362G>A (n.*362G>A)
c.874G>A (p.Ala292Thr)
c.556G>A (p.Ala186Thr)
c.358G>A (p.Ala120Thr)
c.*59G>A (n.*59G>A)
n.929G>A
c.133G>A (p.Ala45Thr)
2g.101412988C>ACA347974414RFX8c.984G>T (p.Leu328Phe)
c.645G>T (p.Leu215Phe)
c.858G>T (p.Leu286Phe)
c.771G>T (p.Leu257Phe)
c.*361G>T (n.*361G>T)
c.873G>T (p.Leu291Phe)
c.555G>T (p.Leu185Phe)
c.357G>T (p.Leu119Phe)
c.*58G>T (n.*58G>T)
n.928G>T
c.132G>T (p.Leu44Phe)
2g.101412988C>GCA347974415RFX8c.984G>C (p.Leu328Phe)
c.645G>C (p.Leu215Phe)
c.858G>C (p.Leu286Phe)
c.771G>C (p.Leu257Phe)
c.*361G>C (n.*361G>C)
c.873G>C (p.Leu291Phe)
c.555G>C (p.Leu185Phe)
c.357G>C (p.Leu119Phe)
c.*58G>C (n.*58G>C)
n.928G>C
c.132G>C (p.Leu44Phe)
2g.101412988C>TCA427793371RFX8c.984G>A (p.Leu328=)
c.645G>A (p.Leu215=)
c.858G>A (p.Leu286=)
c.771G>A (p.Leu257=)
c.*361G>A (n.*361G>A)
c.873G>A (p.Leu291=)
c.555G>A (p.Leu185=)
c.357G>A (p.Leu119=)
c.*58G>A (n.*58G>A)
n.928G>A
c.132G>A (p.Leu44=)
2g.101412989A=CA1274778596RFX8c.983T= (p.Leu328=)
c.644T= (p.Leu215=)
c.857T= (p.Leu286=)
c.770T= (p.Leu257=)
c.*360T= (n.*360T=)
c.872T= (p.Leu291=)
c.554T= (p.Leu185=)
c.356T= (p.Leu119=)
c.*57T= (n.*57T=)
n.927T=
c.131T= (p.Leu44=)
2g.101412989A>CCA347974416RFX8c.983T>G (p.Leu328Trp)
c.644T>G (p.Leu215Trp)
c.857T>G (p.Leu286Trp)
c.770T>G (p.Leu257Trp)
c.*360T>G (n.*360T>G)
c.872T>G (p.Leu291Trp)
c.554T>G (p.Leu185Trp)
c.356T>G (p.Leu119Trp)
c.*57T>G (n.*57T>G)
n.927T>G
c.131T>G (p.Leu44Trp)
2g.101412989A>GCA347974417RFX8c.983T>C (p.Leu328Ser)
c.644T>C (p.Leu215Ser)
c.857T>C (p.Leu286Ser)
c.770T>C (p.Leu257Ser)
c.*360T>C (n.*360T>C)
c.872T>C (p.Leu291Ser)
c.554T>C (p.Leu185Ser)
c.356T>C (p.Leu119Ser)
c.*57T>C (n.*57T>C)
n.927T>C
c.131T>C (p.Leu44Ser)
 dbSNP gnomAD v4
2g.101412989A>TCA347974418RFX8c.983T>A (p.Leu328Ter)
c.644T>A (p.Leu215Ter)
c.857T>A (p.Leu286Ter)
c.770T>A (p.Leu257Ter)
c.*360T>A (n.*360T>A)
c.872T>A (p.Leu291Ter)
c.554T>A (p.Leu185Ter)
c.356T>A (p.Leu119Ter)
c.*57T>A (n.*57T>A)
n.927T>A
c.131T>A (p.Leu44Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.101412990A>CCA347974419RFX8c.982T>G (p.Leu328Val)
c.643T>G (p.Leu215Val)
c.856T>G (p.Leu286Val)
c.769T>G (p.Leu257Val)
c.*359T>G (n.*359T>G)
c.871T>G (p.Leu291Val)
c.553T>G (p.Leu185Val)
c.355T>G (p.Leu119Val)
c.*56T>G (n.*56T>G)
n.926T>G
c.130T>G (p.Leu44Val)
2g.101412990A>GCA427793383RFX8c.982T>C (p.Leu328=)
c.643T>C (p.Leu215=)
c.856T>C (p.Leu286=)
c.769T>C (p.Leu257=)
c.*359T>C (n.*359T>C)
c.871T>C (p.Leu291=)
c.553T>C (p.Leu185=)
c.355T>C (p.Leu119=)
c.*56T>C (n.*56T>C)
n.926T>C
c.130T>C (p.Leu44=)
2g.101412990A>TCA347974420RFX8c.982T>A (p.Leu328Met)
c.643T>A (p.Leu215Met)
c.856T>A (p.Leu286Met)
c.769T>A (p.Leu257Met)
c.*359T>A (n.*359T>A)
c.871T>A (p.Leu291Met)
c.553T>A (p.Leu185Met)
c.355T>A (p.Leu119Met)
c.*56T>A (n.*56T>A)
n.926T>A
c.130T>A (p.Leu44Met)
2g.101412991A=CA1274778597RFX8c.981T= (p.Thr327=)
c.642T= (p.Thr214=)
c.855T= (p.Thr285=)
c.768T= (p.Thr256=)
c.*358T= (n.*358T=)
c.870T= (p.Thr290=)
c.552T= (p.Thr184=)
c.354T= (p.Thr118=)
c.*55T= (n.*55T=)
n.925T=
c.129T= (p.Thr43=)
2g.101412991A>CCA427793389RFX8c.981T>G (p.Thr327=)
c.642T>G (p.Thr214=)
c.855T>G (p.Thr285=)
c.768T>G (p.Thr256=)
c.*358T>G (n.*358T>G)
c.870T>G (p.Thr290=)
c.552T>G (p.Thr184=)
c.354T>G (p.Thr118=)
c.*55T>G (n.*55T>G)
n.925T>G
c.129T>G (p.Thr43=)
2g.101412991A>GCA427793391RFX8c.981T>C (p.Thr327=)
c.642T>C (p.Thr214=)
c.855T>C (p.Thr285=)
c.768T>C (p.Thr256=)
c.*358T>C (n.*358T>C)
c.870T>C (p.Thr290=)
c.552T>C (p.Thr184=)
c.354T>C (p.Thr118=)
c.*55T>C (n.*55T>C)
n.925T>C
c.129T>C (p.Thr43=)
2g.101412991A>TCA427793393RFX8c.981T>A (p.Thr327=)
c.642T>A (p.Thr214=)
c.855T>A (p.Thr285=)
c.768T>A (p.Thr256=)
c.*358T>A (n.*358T>A)
c.870T>A (p.Thr290=)
c.552T>A (p.Thr184=)
c.354T>A (p.Thr118=)
c.*55T>A (n.*55T>A)
n.925T>A
c.129T>A (p.Thr43=)
 dbSNP gnomAD v3 gnomAD v4
2g.101412992G>ACA347974423RFX8c.980C>T (p.Thr327Ile)
c.641C>T (p.Thr214Ile)
c.854C>T (p.Thr285Ile)
c.767C>T (p.Thr256Ile)
c.*357C>T (n.*357C>T)
c.869C>T (p.Thr290Ile)
c.551C>T (p.Thr184Ile)
c.353C>T (p.Thr118Ile)
c.*54C>T (n.*54C>T)
n.924C>T
c.128C>T (p.Thr43Ile)
2g.101412992G>CCA347974421RFX8c.980C>G (p.Thr327Ser)
c.641C>G (p.Thr214Ser)
c.854C>G (p.Thr285Ser)
c.767C>G (p.Thr256Ser)
c.*357C>G (n.*357C>G)
c.869C>G (p.Thr290Ser)
c.551C>G (p.Thr184Ser)
c.353C>G (p.Thr118Ser)
c.*54C>G (n.*54C>G)
n.924C>G
c.128C>G (p.Thr43Ser)
 dbSNP gnomAD v4
2g.101412992G=CA1274778598RFX8c.980C= (p.Thr327=)
c.641C= (p.Thr214=)
c.854C= (p.Thr285=)
c.767C= (p.Thr256=)
c.*357C= (n.*357C=)
c.869C= (p.Thr290=)
c.551C= (p.Thr184=)
c.353C= (p.Thr118=)
c.*54C= (n.*54C=)
n.924C=
c.128C= (p.Thr43=)
2g.101412992G>TCA347974422RFX8c.980C>A (p.Thr327Asn)
c.641C>A (p.Thr214Asn)
c.854C>A (p.Thr285Asn)
c.767C>A (p.Thr256Asn)
c.*357C>A (n.*357C>A)
c.869C>A (p.Thr290Asn)
c.551C>A (p.Thr184Asn)
c.353C>A (p.Thr118Asn)
c.*54C>A (n.*54C>A)
n.924C>A
c.128C>A (p.Thr43Asn)
2g.101412993T>ACA347974424RFX8c.979A>T (p.Thr327Ser)
c.640A>T (p.Thr214Ser)
c.853A>T (p.Thr285Ser)
c.766A>T (p.Thr256Ser)
c.*356A>T (n.*356A>T)
c.868A>T (p.Thr290Ser)
c.550A>T (p.Thr184Ser)
c.352A>T (p.Thr118Ser)
c.*53A>T (n.*53A>T)
n.923A>T
c.127A>T (p.Thr43Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.101412993T>CCA347974425RFX8c.979A>G (p.Thr327Ala)
c.640A>G (p.Thr214Ala)
c.853A>G (p.Thr285Ala)
c.766A>G (p.Thr256Ala)
c.*356A>G (n.*356A>G)
c.868A>G (p.Thr290Ala)
c.550A>G (p.Thr184Ala)
c.352A>G (p.Thr118Ala)
c.*53A>G (n.*53A>G)
n.923A>G
c.127A>G (p.Thr43Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.101412993T>GCA347974426RFX8c.979A>C (p.Thr327Pro)
c.640A>C (p.Thr214Pro)
c.853A>C (p.Thr285Pro)
c.766A>C (p.Thr256Pro)
c.*356A>C (n.*356A>C)
c.868A>C (p.Thr290Pro)
c.550A>C (p.Thr184Pro)
c.352A>C (p.Thr118Pro)
c.*53A>C (n.*53A>C)
n.923A>C
c.127A>C (p.Thr43Pro)
2g.101412993T=CA1274778599RFX8c.979A= (p.Thr327=)
c.640A= (p.Thr214=)
c.853A= (p.Thr285=)
c.766A= (p.Thr256=)
c.*356A= (n.*356A=)
c.868A= (p.Thr290=)
c.550A= (p.Thr184=)
c.352A= (p.Thr118=)
c.*53A= (n.*53A=)
n.923A=
c.127A= (p.Thr43=)
2g.101412994G>ACA427793412RFX8c.978C>T (p.Gly326=)
c.639C>T (p.Gly213=)
c.852C>T (p.Gly284=)
c.765C>T (p.Gly255=)
c.*355C>T (n.*355C>T)
c.867C>T (p.Gly289=)
c.549C>T (p.Gly183=)
c.351C>T (p.Gly117=)
c.*52C>T (n.*52C>T)
n.922C>T
c.126C>T (p.Gly42=)
 dbSNP gnomAD v2 gnomAD v4
2g.101412994G>CCA427793417RFX8c.978C>G (p.Gly326=)
c.639C>G (p.Gly213=)
c.852C>G (p.Gly284=)
c.765C>G (p.Gly255=)
c.*355C>G (n.*355C>G)
c.867C>G (p.Gly289=)
c.549C>G (p.Gly183=)
c.351C>G (p.Gly117=)
c.*52C>G (n.*52C>G)
n.922C>G
c.126C>G (p.Gly42=)
2g.101412994G=CA1274778600RFX8c.978C= (p.Gly326=)
c.639C= (p.Gly213=)
c.852C= (p.Gly284=)
c.765C= (p.Gly255=)
c.*355C= (n.*355C=)
c.867C= (p.Gly289=)
c.549C= (p.Gly183=)
c.351C= (p.Gly117=)
c.*52C= (n.*52C=)
n.922C=
c.126C= (p.Gly42=)
2g.101412994G>TCA427793413RFX8c.978C>A (p.Gly326=)
c.639C>A (p.Gly213=)
c.852C>A (p.Gly284=)
c.765C>A (p.Gly255=)
c.*355C>A (n.*355C>A)
c.867C>A (p.Gly289=)
c.549C>A (p.Gly183=)
c.351C>A (p.Gly117=)
c.*52C>A (n.*52C>A)
n.922C>A
c.126C>A (p.Gly42=)
2g.101412995C>ACA347974427RFX8c.977G>T (p.Gly326Val)
c.638G>T (p.Gly213Val)
c.851G>T (p.Gly284Val)
c.764G>T (p.Gly255Val)
c.*354G>T (n.*354G>T)
c.866G>T (p.Gly289Val)
c.548G>T (p.Gly183Val)
c.350G>T (p.Gly117Val)
c.*51G>T (n.*51G>T)
n.921G>T
c.125G>T (p.Gly42Val)
2g.101412995C=CA1274778601RFX8c.977G= (p.Gly326=)
c.638G= (p.Gly213=)
c.851G= (p.Gly284=)
c.764G= (p.Gly255=)
c.*354G= (n.*354G=)
c.866G= (p.Gly289=)
c.548G= (p.Gly183=)
c.350G= (p.Gly117=)
c.*51G= (n.*51G=)
n.921G=
c.125G= (p.Gly42=)
2g.101412995C>GCA347974428RFX8c.977G>C (p.Gly326Ala)
c.638G>C (p.Gly213Ala)
c.851G>C (p.Gly284Ala)
c.764G>C (p.Gly255Ala)
c.*354G>C (n.*354G>C)
c.866G>C (p.Gly289Ala)
c.548G>C (p.Gly183Ala)
c.350G>C (p.Gly117Ala)
c.*51G>C (n.*51G>C)
n.921G>C
c.125G>C (p.Gly42Ala)
 ClinVar dbSNP
2g.101412995C>TCA347974429RFX8c.977G>A (p.Gly326Asp)
c.638G>A (p.Gly213Asp)
c.851G>A (p.Gly284Asp)
c.764G>A (p.Gly255Asp)
c.*354G>A (n.*354G>A)
c.866G>A (p.Gly289Asp)
c.548G>A (p.Gly183Asp)
c.350G>A (p.Gly117Asp)
c.*51G>A (n.*51G>A)
n.921G>A
c.125G>A (p.Gly42Asp)
 dbSNP gnomAD v4
2g.101412996C>ACA347974430RFX8c.976G>T (p.Gly326Cys)
c.637G>T (p.Gly213Cys)
c.850G>T (p.Gly284Cys)
c.763G>T (p.Gly255Cys)
c.*353G>T (n.*353G>T)
c.865G>T (p.Gly289Cys)
c.547G>T (p.Gly183Cys)
c.349G>T (p.Gly117Cys)
c.*50G>T (n.*50G>T)
n.920G>T
c.124G>T (p.Gly42Cys)
2g.101412996C>GCA347974432RFX8c.976G>C (p.Gly326Arg)
c.637G>C (p.Gly213Arg)
c.850G>C (p.Gly284Arg)
c.763G>C (p.Gly255Arg)
c.*353G>C (n.*353G>C)
c.865G>C (p.Gly289Arg)
c.547G>C (p.Gly183Arg)
c.349G>C (p.Gly117Arg)
c.*50G>C (n.*50G>C)
n.920G>C
c.124G>C (p.Gly42Arg)
2g.101412996C>TCA347974431RFX8c.976G>A (p.Gly326Ser)
c.637G>A (p.Gly213Ser)
c.850G>A (p.Gly284Ser)
c.763G>A (p.Gly255Ser)
c.*353G>A (n.*353G>A)
c.865G>A (p.Gly289Ser)
c.547G>A (p.Gly183Ser)
c.349G>A (p.Gly117Ser)
c.*50G>A (n.*50G>A)
n.920G>A
c.124G>A (p.Gly42Ser)
 gnomAD v4
2g.101412996_101412998delCA645513967RFX8c.974_976del (p.Gln325_Gly326delinsArg)
c.635_637del (p.Gln212_Gly213delinsArg)
c.848_850del (p.Gln283_Gly284delinsArg)
c.761_763del (p.Gln254_Gly255delinsArg)
c.*351_*353del (n.*351_*353del)
c.863_865del (p.Gln288_Gly289delinsArg)
c.545_547del (p.Gln182_Gly183delinsArg)
c.347_349del (p.Gln116_Gly117delinsArg)
c.*48_*50del (n.*48_*50del)
n.918_920del
c.122_124del (p.Gln41_Gly42delinsArg)
 COSMIC COSMIC
2g.101412997T>ACA347974433RFX8c.975A>T (p.Gln325His)
c.636A>T (p.Gln212His)
c.849A>T (p.Gln283His)
c.762A>T (p.Gln254His)
c.*352A>T (n.*352A>T)
c.864A>T (p.Gln288His)
c.546A>T (p.Gln182His)
c.348A>T (p.Gln116His)
c.*49A>T (n.*49A>T)
n.919A>T
c.123A>T (p.Gln41His)
2g.101412997T>CCA427793432RFX8c.975A>G (p.Gln325=)
c.636A>G (p.Gln212=)
c.849A>G (p.Gln283=)
c.762A>G (p.Gln254=)
c.*352A>G (n.*352A>G)
c.864A>G (p.Gln288=)
c.546A>G (p.Gln182=)
c.348A>G (p.Gln116=)
c.*49A>G (n.*49A>G)
n.919A>G
c.123A>G (p.Gln41=)
 dbSNP gnomAD v2 gnomAD v4
2g.101412997T>GCA347974434RFX8c.975A>C (p.Gln325His)
c.636A>C (p.Gln212His)
c.849A>C (p.Gln283His)
c.762A>C (p.Gln254His)
c.*352A>C (n.*352A>C)
c.864A>C (p.Gln288His)
c.546A>C (p.Gln182His)
c.348A>C (p.Gln116His)
c.*49A>C (n.*49A>C)
n.919A>C
c.123A>C (p.Gln41His)
2g.101412997T=CA1274778602RFX8c.975A= (p.Gln325=)
c.636A= (p.Gln212=)
c.849A= (p.Gln283=)
c.762A= (p.Gln254=)
c.*352A= (n.*352A=)
c.864A= (p.Gln288=)
c.546A= (p.Gln182=)
c.348A= (p.Gln116=)
c.*49A= (n.*49A=)
n.919A=
c.123A= (p.Gln41=)
2g.101412998T>ACA1806431RFX8c.974A>T (p.Gln325Leu)
c.635A>T (p.Gln212Leu)
c.848A>T (p.Gln283Leu)
c.761A>T (p.Gln254Leu)
c.*351A>T (n.*351A>T)
c.863A>T (p.Gln288Leu)
c.545A>T (p.Gln182Leu)
c.347A>T (p.Gln116Leu)
c.*48A>T (n.*48A>T)
n.918A>T
c.122A>T (p.Gln41Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.101412998T>CCA347974435RFX8c.974A>G (p.Gln325Arg)
c.635A>G (p.Gln212Arg)
c.848A>G (p.Gln283Arg)
c.761A>G (p.Gln254Arg)
c.*351A>G (n.*351A>G)
c.863A>G (p.Gln288Arg)
c.545A>G (p.Gln182Arg)
c.347A>G (p.Gln116Arg)
c.*48A>G (n.*48A>G)
n.918A>G
c.122A>G (p.Gln41Arg)
2g.101412998T>GCA347974436RFX8c.974A>C (p.Gln325Pro)
c.635A>C (p.Gln212Pro)
c.848A>C (p.Gln283Pro)
c.761A>C (p.Gln254Pro)
c.*351A>C (n.*351A>C)
c.863A>C (p.Gln288Pro)
c.545A>C (p.Gln182Pro)
c.347A>C (p.Gln116Pro)
c.*48A>C (n.*48A>C)
n.918A>C
c.122A>C (p.Gln41Pro)
 dbSNP
2g.101412998T=CA1274778603RFX8c.974A= (p.Gln325=)
c.635A= (p.Gln212=)
c.848A= (p.Gln283=)
c.761A= (p.Gln254=)
c.*351A= (n.*351A=)
c.863A= (p.Gln288=)
c.545A= (p.Gln182=)
c.347A= (p.Gln116=)
c.*48A= (n.*48A=)
n.918A=
c.122A= (p.Gln41=)
2g.101412998_101412999delinsTGCA1274778604RFX8c.973_974delinsCA (p.Gln325=)
c.634_635delinsCA (p.Gln212=)
c.847_848delinsCA (p.Gln283=)
c.760_761delinsCA (p.Gln254=)
c.*350_*351delinsCA (n.*350_*351delinsCA)
c.862_863delinsCA (p.Gln288=)
c.544_545delinsCA (p.Gln182=)
c.346_347delinsCA (p.Gln116=)
c.*47_*48delinsCA (n.*47_*48delinsCA)
n.917_918delinsCA
c.121_122delinsCA (p.Gln41=)
2g.101412999delCA535107088RFX8c.973del (p.Gln325LysfsTer27)
c.634del (p.Gln212LysfsTer27)
c.847del (p.Gln283LysfsTer27)
c.760del (p.Gln254LysfsTer27)
c.*350del (n.*350del)
c.862del (p.Gln288LysfsTer27)
c.544del (p.Gln182LysfsTer27)
c.346del (p.Gln116LysfsTer27)
c.*47del (n.*47del)
n.917del
c.121del (p.Gln41LysfsTer27)
 dbSNP gnomAD v2 gnomAD v4
2g.101412999G>ACA347974437RFX8c.973C>T (p.Gln325Ter)
c.634C>T (p.Gln212Ter)
c.847C>T (p.Gln283Ter)
c.760C>T (p.Gln254Ter)
c.*350C>T (n.*350C>T)
c.862C>T (p.Gln288Ter)
c.544C>T (p.Gln182Ter)
c.346C>T (p.Gln116Ter)
c.*47C>T (n.*47C>T)
n.917C>T
c.121C>T (p.Gln41Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.101412999G>CCA347974438RFX8c.973C>G (p.Gln325Glu)
c.634C>G (p.Gln212Glu)
c.847C>G (p.Gln283Glu)
c.760C>G (p.Gln254Glu)
c.*350C>G (n.*350C>G)
c.862C>G (p.Gln288Glu)
c.544C>G (p.Gln182Glu)
c.346C>G (p.Gln116Glu)
c.*47C>G (n.*47C>G)
n.917C>G
c.121C>G (p.Gln41Glu)
2g.101412999G=CA1274778605RFX8c.973C= (p.Gln325=)
c.634C= (p.Gln212=)
c.847C= (p.Gln283=)
c.760C= (p.Gln254=)
c.*350C= (n.*350C=)
c.862C= (p.Gln288=)
c.544C= (p.Gln182=)
c.346C= (p.Gln116=)
c.*47C= (n.*47C=)
n.917C=
c.121C= (p.Gln41=)
2g.101412999G>TCA347974439RFX8c.973C>A (p.Gln325Lys)
c.634C>A (p.Gln212Lys)
c.847C>A (p.Gln283Lys)
c.760C>A (p.Gln254Lys)
c.*350C>A (n.*350C>A)
c.862C>A (p.Gln288Lys)
c.544C>A (p.Gln182Lys)
c.346C>A (p.Gln116Lys)
c.*47C>A (n.*47C>A)
n.917C>A
c.121C>A (p.Gln41Lys)
2g.101413000A>CCA347974440RFX8c.972T>G (p.Asn324Lys)
c.633T>G (p.Asn211Lys)
c.846T>G (p.Asn282Lys)
c.759T>G (p.Asn253Lys)
c.*349T>G (n.*349T>G)
c.861T>G (p.Asn287Lys)
c.543T>G (p.Asn181Lys)
c.345T>G (p.Asn115Lys)
c.*46T>G (n.*46T>G)
n.916T>G
c.120T>G (p.Asn40Lys)
2g.101413000A>GCA427793450RFX8c.972T>C (p.Asn324=)
c.633T>C (p.Asn211=)
c.846T>C (p.Asn282=)
c.759T>C (p.Asn253=)
c.*349T>C (n.*349T>C)
c.861T>C (p.Asn287=)
c.543T>C (p.Asn181=)
c.345T>C (p.Asn115=)
c.*46T>C (n.*46T>C)
n.916T>C
c.120T>C (p.Asn40=)
 gnomAD v4
2g.101413000A>TCA347974441RFX8c.972T>A (p.Asn324Lys)
c.633T>A (p.Asn211Lys)
c.846T>A (p.Asn282Lys)
c.759T>A (p.Asn253Lys)
c.*349T>A (n.*349T>A)
c.861T>A (p.Asn287Lys)
c.543T>A (p.Asn181Lys)
c.345T>A (p.Asn115Lys)
c.*46T>A (n.*46T>A)
n.916T>A
c.120T>A (p.Asn40Lys)
2g.101413001T>ACA347974442RFX8c.971A>T (p.Asn324Ile)
c.632A>T (p.Asn211Ile)
c.845A>T (p.Asn282Ile)
c.758A>T (p.Asn253Ile)
c.*348A>T (n.*348A>T)
c.860A>T (p.Asn287Ile)
c.542A>T (p.Asn181Ile)
c.344A>T (p.Asn115Ile)
c.*45A>T (n.*45A>T)
n.915A>T
c.119A>T (p.Asn40Ile)
2g.101413001T>CCA1806432RFX8c.971A>G (p.Asn324Ser)
c.632A>G (p.Asn211Ser)
c.845A>G (p.Asn282Ser)
c.758A>G (p.Asn253Ser)
c.*348A>G (n.*348A>G)
c.860A>G (p.Asn287Ser)
c.542A>G (p.Asn181Ser)
c.344A>G (p.Asn115Ser)
c.*45A>G (n.*45A>G)
n.915A>G
c.119A>G (p.Asn40Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.101413001T>GCA347974443RFX8c.971A>C (p.Asn324Thr)
c.632A>C (p.Asn211Thr)
c.845A>C (p.Asn282Thr)
c.758A>C (p.Asn253Thr)
c.*348A>C (n.*348A>C)
c.860A>C (p.Asn287Thr)
c.542A>C (p.Asn181Thr)
c.344A>C (p.Asn115Thr)
c.*45A>C (n.*45A>C)
n.915A>C
c.119A>C (p.Asn40Thr)
2g.101413001T=CA1274778606RFX8c.971A= (p.Asn324=)
c.632A= (p.Asn211=)
c.845A= (p.Asn282=)
c.758A= (p.Asn253=)
c.*348A= (n.*348A=)
c.860A= (p.Asn287=)
c.542A= (p.Asn181=)
c.344A= (p.Asn115=)
c.*45A= (n.*45A=)
n.915A=
c.119A= (p.Asn40=)
2g.101413002T>ACA347974444RFX8c.970A>T (p.Asn324Tyr)
c.631A>T (p.Asn211Tyr)
c.844A>T (p.Asn282Tyr)
c.757A>T (p.Asn253Tyr)
c.*347A>T (n.*347A>T)
c.859A>T (p.Asn287Tyr)
c.541A>T (p.Asn181Tyr)
c.343A>T (p.Asn115Tyr)
c.*44A>T (n.*44A>T)
n.914A>T
c.118A>T (p.Asn40Tyr)
2g.101413002T>CCA347974446RFX8c.970A>G (p.Asn324Asp)
c.631A>G (p.Asn211Asp)
c.844A>G (p.Asn282Asp)
c.757A>G (p.Asn253Asp)
c.*347A>G (n.*347A>G)
c.859A>G (p.Asn287Asp)
c.541A>G (p.Asn181Asp)
c.343A>G (p.Asn115Asp)
c.*44A>G (n.*44A>G)
n.914A>G
c.118A>G (p.Asn40Asp)
2g.101413002T>GCA347974445RFX8c.970A>C (p.Asn324His)
c.631A>C (p.Asn211His)
c.844A>C (p.Asn282His)
c.757A>C (p.Asn253His)
c.*347A>C (n.*347A>C)
c.859A>C (p.Asn287His)
c.541A>C (p.Asn181His)
c.343A>C (p.Asn115His)
c.*44A>C (n.*44A>C)
n.914A>C
c.118A>C (p.Asn40His)
2g.101413003G>ACA427793467RFX8c.969C>T (p.Ile323=)
c.630C>T (p.Ile210=)
c.843C>T (p.Ile281=)
c.756C>T (p.Ile252=)
c.*346C>T (n.*346C>T)
c.858C>T (p.Ile286=)
c.540C>T (p.Ile180=)
c.342C>T (p.Ile114=)
c.*43C>T (n.*43C>T)
n.913C>T
c.117C>T (p.Ile39=)
2g.101413003G>CCA347974447RFX8c.969C>G (p.Ile323Met)
c.630C>G (p.Ile210Met)
c.843C>G (p.Ile281Met)
c.756C>G (p.Ile252Met)
c.*346C>G (n.*346C>G)
c.858C>G (p.Ile286Met)
c.540C>G (p.Ile180Met)
c.342C>G (p.Ile114Met)
c.*43C>G (n.*43C>G)
n.913C>G
c.117C>G (p.Ile39Met)
2g.101413003G>TCA427793472RFX8c.969C>A (p.Ile323=)
c.630C>A (p.Ile210=)
c.843C>A (p.Ile281=)
c.756C>A (p.Ile252=)
c.*346C>A (n.*346C>A)
c.858C>A (p.Ile286=)
c.540C>A (p.Ile180=)
c.342C>A (p.Ile114=)
c.*43C>A (n.*43C>A)
n.913C>A
c.117C>A (p.Ile39=)
2g.101413004A>CCA347974448RFX8c.968T>G (p.Ile323Ser)
c.629T>G (p.Ile210Ser)
c.842T>G (p.Ile281Ser)
c.755T>G (p.Ile252Ser)
c.*345T>G (n.*345T>G)
c.857T>G (p.Ile286Ser)
c.539T>G (p.Ile180Ser)
c.341T>G (p.Ile114Ser)
c.*42T>G (n.*42T>G)
n.912T>G
c.116T>G (p.Ile39Ser)
2g.101413004A>GCA347974449RFX8c.968T>C (p.Ile323Thr)
c.629T>C (p.Ile210Thr)
c.842T>C (p.Ile281Thr)
c.755T>C (p.Ile252Thr)
c.*345T>C (n.*345T>C)
c.857T>C (p.Ile286Thr)
c.539T>C (p.Ile180Thr)
c.341T>C (p.Ile114Thr)
c.*42T>C (n.*42T>C)
n.912T>C
c.116T>C (p.Ile39Thr)
 gnomAD v4
2g.101413004A>TCA347974450RFX8c.968T>A (p.Ile323Asn)
c.629T>A (p.Ile210Asn)
c.842T>A (p.Ile281Asn)
c.755T>A (p.Ile252Asn)
c.*345T>A (n.*345T>A)
c.857T>A (p.Ile286Asn)
c.539T>A (p.Ile180Asn)
c.341T>A (p.Ile114Asn)
c.*42T>A (n.*42T>A)
n.912T>A
c.116T>A (p.Ile39Asn)
2g.101413005T>ACA347974451RFX8c.967A>T (p.Ile323Phe)
c.628A>T (p.Ile210Phe)
c.841A>T (p.Ile281Phe)
c.754A>T (p.Ile252Phe)
c.*344A>T (n.*344A>T)
c.856A>T (p.Ile286Phe)
c.538A>T (p.Ile180Phe)
c.340A>T (p.Ile114Phe)
c.*41A>T (n.*41A>T)
n.911A>T
c.115A>T (p.Ile39Phe)
2g.101413005T>CCA347974452RFX8c.967A>G (p.Ile323Val)
c.628A>G (p.Ile210Val)
c.841A>G (p.Ile281Val)
c.754A>G (p.Ile252Val)
c.*344A>G (n.*344A>G)
c.856A>G (p.Ile286Val)
c.538A>G (p.Ile180Val)
c.340A>G (p.Ile114Val)
c.*41A>G (n.*41A>G)
n.911A>G
c.115A>G (p.Ile39Val)
 gnomAD v4
2g.101413005T>GCA347974453RFX8c.967A>C (p.Ile323Leu)
c.628A>C (p.Ile210Leu)
c.841A>C (p.Ile281Leu)
c.754A>C (p.Ile252Leu)
c.*344A>C (n.*344A>C)
c.856A>C (p.Ile286Leu)
c.538A>C (p.Ile180Leu)
c.340A>C (p.Ile114Leu)
c.*41A>C (n.*41A>C)
n.911A>C
c.115A>C (p.Ile39Leu)
2g.101413006G>ACA427793491RFX8c.966C>T (p.Ile322=)
c.627C>T (p.Ile209=)
c.840C>T (p.Ile280=)
c.753C>T (p.Ile251=)
c.*343C>T (n.*343C>T)
c.855C>T (p.Ile285=)
c.537C>T (p.Ile179=)
c.339C>T (p.Ile113=)
c.*40C>T (n.*40C>T)
n.910C>T
c.114C>T (p.Ile38=)
 dbSNP gnomAD v3 gnomAD v4
2g.101413006G>CCA53230245RFX8c.966C>G (p.Ile322Met)
c.627C>G (p.Ile209Met)
c.840C>G (p.Ile280Met)
c.753C>G (p.Ile251Met)
c.*343C>G (n.*343C>G)
c.855C>G (p.Ile285Met)
c.537C>G (p.Ile179Met)
c.339C>G (p.Ile113Met)
c.*40C>G (n.*40C>G)
n.910C>G
c.114C>G (p.Ile38Met)
 dbSNP gnomAD v3 gnomAD v4
2g.101413006G=CA1274778607RFX8c.966C= (p.Ile322=)
c.627C= (p.Ile209=)
c.840C= (p.Ile280=)
c.753C= (p.Ile251=)
c.*343C= (n.*343C=)
c.855C= (p.Ile285=)
c.537C= (p.Ile179=)
c.339C= (p.Ile113=)
c.*40C= (n.*40C=)
n.910C=
c.114C= (p.Ile38=)
2g.101413006G>TCA427793495RFX8c.966C>A (p.Ile322=)
c.627C>A (p.Ile209=)
c.840C>A (p.Ile280=)
c.753C>A (p.Ile251=)
c.*343C>A (n.*343C>A)
c.855C>A (p.Ile285=)
c.537C>A (p.Ile179=)
c.339C>A (p.Ile113=)
c.*40C>A (n.*40C>A)
n.910C>A
c.114C>A (p.Ile38=)
 dbSNP gnomAD v2 gnomAD v4
2g.101413007A>CCA347974454RFX8c.965T>G (p.Ile322Ser)
c.626T>G (p.Ile209Ser)
c.839T>G (p.Ile280Ser)
c.752T>G (p.Ile251Ser)
c.*342T>G (n.*342T>G)
c.854T>G (p.Ile285Ser)
c.536T>G (p.Ile179Ser)
c.338T>G (p.Ile113Ser)
c.*39T>G (n.*39T>G)
n.909T>G
c.113T>G (p.Ile38Ser)
2g.101413007A>GCA347974455RFX8c.965T>C (p.Ile322Thr)
c.626T>C (p.Ile209Thr)
c.839T>C (p.Ile280Thr)
c.752T>C (p.Ile251Thr)
c.*342T>C (n.*342T>C)
c.854T>C (p.Ile285Thr)
c.536T>C (p.Ile179Thr)
c.338T>C (p.Ile113Thr)
c.*39T>C (n.*39T>C)
n.909T>C
c.113T>C (p.Ile38Thr)
2g.101413007A>TCA347974456RFX8c.965T>A (p.Ile322Asn)
c.626T>A (p.Ile209Asn)
c.839T>A (p.Ile280Asn)
c.752T>A (p.Ile251Asn)
c.*342T>A (n.*342T>A)
c.854T>A (p.Ile285Asn)
c.536T>A (p.Ile179Asn)
c.338T>A (p.Ile113Asn)
c.*39T>A (n.*39T>A)
n.909T>A
c.113T>A (p.Ile38Asn)
2g.101413008T>ACA347974457RFX8c.964A>T (p.Ile322Phe)
c.625A>T (p.Ile209Phe)
c.838A>T (p.Ile280Phe)
c.751A>T (p.Ile251Phe)
c.*341A>T (n.*341A>T)
c.853A>T (p.Ile285Phe)
c.535A>T (p.Ile179Phe)
c.337A>T (p.Ile113Phe)
c.*38A>T (n.*38A>T)
n.908A>T
c.112A>T (p.Ile38Phe)
2g.101413008T>CCA53230247RFX8c.964A>G (p.Ile322Val)
c.625A>G (p.Ile209Val)
c.838A>G (p.Ile280Val)
c.751A>G (p.Ile251Val)
c.*341A>G (n.*341A>G)
c.853A>G (p.Ile285Val)
c.535A>G (p.Ile179Val)
c.337A>G (p.Ile113Val)
c.*38A>G (n.*38A>G)
n.908A>G
c.112A>G (p.Ile38Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101413008T>GCA347974458RFX8c.964A>C (p.Ile322Leu)
c.625A>C (p.Ile209Leu)
c.838A>C (p.Ile280Leu)
c.751A>C (p.Ile251Leu)
c.*341A>C (n.*341A>C)
c.853A>C (p.Ile285Leu)
c.535A>C (p.Ile179Leu)
c.337A>C (p.Ile113Leu)
c.*38A>C (n.*38A>C)
n.908A>C
c.112A>C (p.Ile38Leu)
2g.101413008T=CA1274778608RFX8c.964A= (p.Ile322=)
c.625A= (p.Ile209=)
c.838A= (p.Ile280=)
c.751A= (p.Ile251=)
c.*341A= (n.*341A=)
c.853A= (p.Ile285=)
c.535A= (p.Ile179=)
c.337A= (p.Ile113=)
c.*38A= (n.*38A=)
n.908A=
c.112A= (p.Ile38=)
2g.101413009G>ACA427793513RFX8c.963C>T (p.Ala321=)
c.624C>T (p.Ala208=)
c.837C>T (p.Ala279=)
c.750C>T (p.Ala250=)
c.*340C>T (n.*340C>T)
c.852C>T (p.Ala284=)
c.534C>T (p.Ala178=)
c.336C>T (p.Ala112=)
c.*37C>T (n.*37C>T)
n.907C>T
c.111C>T (p.Ala37=)
 dbSNP gnomAD v2 gnomAD v4
2g.101413009G>CCA427793515RFX8c.963C>G (p.Ala321=)
c.624C>G (p.Ala208=)
c.837C>G (p.Ala279=)
c.750C>G (p.Ala250=)
c.*340C>G (n.*340C>G)
c.852C>G (p.Ala284=)
c.534C>G (p.Ala178=)
c.336C>G (p.Ala112=)
c.*37C>G (n.*37C>G)
n.907C>G
c.111C>G (p.Ala37=)
2g.101413009G=CA1274778609RFX8c.963C= (p.Ala321=)
c.624C= (p.Ala208=)
c.837C= (p.Ala279=)
c.750C= (p.Ala250=)
c.*340C= (n.*340C=)
c.852C= (p.Ala284=)
c.534C= (p.Ala178=)
c.336C= (p.Ala112=)
c.*37C= (n.*37C=)
n.907C=
c.111C= (p.Ala37=)
2g.101413009G>TCA427793519RFX8c.963C>A (p.Ala321=)
c.624C>A (p.Ala208=)
c.837C>A (p.Ala279=)
c.750C>A (p.Ala250=)
c.*340C>A (n.*340C>A)
c.852C>A (p.Ala284=)
c.534C>A (p.Ala178=)
c.336C>A (p.Ala112=)
c.*37C>A (n.*37C>A)
n.907C>A
c.111C>A (p.Ala37=)
2g.101413010G>ACA347974459RFX8c.962C>T (p.Ala321Val)
c.623C>T (p.Ala208Val)
c.836C>T (p.Ala279Val)
c.749C>T (p.Ala250Val)
c.*339C>T (n.*339C>T)
c.851C>T (p.Ala284Val)
c.533C>T (p.Ala178Val)
c.335C>T (p.Ala112Val)
c.*36C>T (n.*36C>T)
n.906C>T
c.110C>T (p.Ala37Val)
 gnomAD v4
2g.101413010G>CCA347974461RFX8c.962C>G (p.Ala321Gly)
c.623C>G (p.Ala208Gly)
c.836C>G (p.Ala279Gly)
c.749C>G (p.Ala250Gly)
c.*339C>G (n.*339C>G)
c.851C>G (p.Ala284Gly)
c.533C>G (p.Ala178Gly)
c.335C>G (p.Ala112Gly)
c.*36C>G (n.*36C>G)
n.906C>G
c.110C>G (p.Ala37Gly)
2g.101413010G>TCA347974460RFX8c.962C>A (p.Ala321Asp)
c.623C>A (p.Ala208Asp)
c.836C>A (p.Ala279Asp)
c.749C>A (p.Ala250Asp)
c.*339C>A (n.*339C>A)
c.851C>A (p.Ala284Asp)
c.533C>A (p.Ala178Asp)
c.335C>A (p.Ala112Asp)
c.*36C>A (n.*36C>A)
n.906C>A
c.110C>A (p.Ala37Asp)
2g.101413011C>ACA347974462RFX8c.961G>T (p.Ala321Ser)
c.622G>T (p.Ala208Ser)
c.835G>T (p.Ala279Ser)
c.748G>T (p.Ala250Ser)
c.*338G>T (n.*338G>T)
c.850G>T (p.Ala284Ser)
c.532G>T (p.Ala178Ser)
c.334G>T (p.Ala112Ser)
c.*35G>T (n.*35G>T)
n.905G>T
c.109G>T (p.Ala37Ser)
2g.101413011C>GCA347974463RFX8c.961G>C (p.Ala321Pro)
c.622G>C (p.Ala208Pro)
c.835G>C (p.Ala279Pro)
c.748G>C (p.Ala250Pro)
c.*338G>C (n.*338G>C)
c.850G>C (p.Ala284Pro)
c.532G>C (p.Ala178Pro)
c.334G>C (p.Ala112Pro)
c.*35G>C (n.*35G>C)
n.905G>C
c.109G>C (p.Ala37Pro)
2g.101413011C>TCA347974464RFX8c.961G>A (p.Ala321Thr)
c.622G>A (p.Ala208Thr)
c.835G>A (p.Ala279Thr)
c.748G>A (p.Ala250Thr)
c.*338G>A (n.*338G>A)
c.850G>A (p.Ala284Thr)
c.532G>A (p.Ala178Thr)
c.334G>A (p.Ala112Thr)
c.*35G>A (n.*35G>A)
n.905G>A
c.109G>A (p.Ala37Thr)
 gnomAD v4
2g.101413012C>ACA347974465RFX8c.960G>T (p.Gln320His)
c.621G>T (p.Gln207His)
c.834G>T (p.Gln278His)
c.747G>T (p.Gln249His)
c.*337G>T (n.*337G>T)
c.849G>T (p.Gln283His)
c.531G>T (p.Gln177His)
c.333G>T (p.Gln111His)
c.*34G>T (n.*34G>T)
n.904G>T
c.108G>T (p.Gln36His)
 dbSNP
2g.101413012C=CA1274778610RFX8c.960G= (p.Gln320=)
c.621G= (p.Gln207=)
c.834G= (p.Gln278=)
c.747G= (p.Gln249=)
c.*337G= (n.*337G=)
c.849G= (p.Gln283=)
c.531G= (p.Gln177=)
c.333G= (p.Gln111=)
c.*34G= (n.*34G=)
n.904G=
c.108G= (p.Gln36=)
2g.101413012C>GCA347974466RFX8c.960G>C (p.Gln320His)
c.621G>C (p.Gln207His)
c.834G>C (p.Gln278His)
c.747G>C (p.Gln249His)
c.*337G>C (n.*337G>C)
c.849G>C (p.Gln283His)
c.531G>C (p.Gln177His)
c.333G>C (p.Gln111His)
c.*34G>C (n.*34G>C)
n.904G>C
c.108G>C (p.Gln36His)
2g.101413012C>TCA427793539RFX8c.960G>A (p.Gln320=)
c.621G>A (p.Gln207=)
c.834G>A (p.Gln278=)
c.747G>A (p.Gln249=)
c.*337G>A (n.*337G>A)
c.849G>A (p.Gln283=)
c.531G>A (p.Gln177=)
c.333G>A (p.Gln111=)
c.*34G>A (n.*34G>A)
n.904G>A
c.108G>A (p.Gln36=)
 gnomAD v4
2g.101413013T>ACA347974467RFX8c.959A>T (p.Gln320Leu)
c.620A>T (p.Gln207Leu)
c.833A>T (p.Gln278Leu)
c.746A>T (p.Gln249Leu)
c.*336A>T (n.*336A>T)
c.848A>T (p.Gln283Leu)
c.530A>T (p.Gln177Leu)
c.332A>T (p.Gln111Leu)
c.*33A>T (n.*33A>T)
n.903A>T
c.107A>T (p.Gln36Leu)
2g.101413013T>CCA347974468RFX8c.959A>G (p.Gln320Arg)
c.620A>G (p.Gln207Arg)
c.833A>G (p.Gln278Arg)
c.746A>G (p.Gln249Arg)
c.*336A>G (n.*336A>G)
c.848A>G (p.Gln283Arg)
c.530A>G (p.Gln177Arg)
c.332A>G (p.Gln111Arg)
c.*33A>G (n.*33A>G)
n.903A>G
c.107A>G (p.Gln36Arg)
2g.101413013T>GCA347974469RFX8c.959A>C (p.Gln320Pro)
c.620A>C (p.Gln207Pro)
c.833A>C (p.Gln278Pro)
c.746A>C (p.Gln249Pro)
c.*336A>C (n.*336A>C)
c.848A>C (p.Gln283Pro)
c.530A>C (p.Gln177Pro)
c.332A>C (p.Gln111Pro)
c.*33A>C (n.*33A>C)
n.903A>C
c.107A>C (p.Gln36Pro)
2g.101413014G>ACA347974470RFX8c.958C>T (p.Gln320Ter)
c.619C>T (p.Gln207Ter)
c.832C>T (p.Gln278Ter)
c.745C>T (p.Gln249Ter)
c.*335C>T (n.*335C>T)
c.847C>T (p.Gln283Ter)
c.529C>T (p.Gln177Ter)
c.331C>T (p.Gln111Ter)
c.*32C>T (n.*32C>T)
n.902C>T
c.106C>T (p.Gln36Ter)
 gnomAD v4
2g.101413014G>CCA347974471RFX8c.958C>G (p.Gln320Glu)
c.619C>G (p.Gln207Glu)
c.832C>G (p.Gln278Glu)
c.745C>G (p.Gln249Glu)
c.*335C>G (n.*335C>G)
c.847C>G (p.Gln283Glu)
c.529C>G (p.Gln177Glu)
c.331C>G (p.Gln111Glu)
c.*32C>G (n.*32C>G)
n.902C>G
c.106C>G (p.Gln36Glu)
2g.101413014G>TCA347974472RFX8c.958C>A (p.Gln320Lys)
c.619C>A (p.Gln207Lys)
c.832C>A (p.Gln278Lys)
c.745C>A (p.Gln249Lys)
c.*335C>A (n.*335C>A)
c.847C>A (p.Gln283Lys)
c.529C>A (p.Gln177Lys)
c.331C>A (p.Gln111Lys)
c.*32C>A (n.*32C>A)
n.902C>A
c.106C>A (p.Gln36Lys)
2g.101413015T>ACA427793557RFX8c.957A>T (p.Leu319=)
c.618A>T (p.Leu206=)
c.831A>T (p.Leu277=)
c.744A>T (p.Leu248=)
c.*334A>T (n.*334A>T)
c.846A>T (p.Leu282=)
c.528A>T (p.Leu176=)
c.330A>T (p.Leu110=)
c.*31A>T (n.*31A>T)
n.901A>T
c.105A>T (p.Leu35=)
2g.101413015T>CCA427793559RFX8c.957A>G (p.Leu319=)
c.618A>G (p.Leu206=)
c.831A>G (p.Leu277=)
c.744A>G (p.Leu248=)
c.*334A>G (n.*334A>G)
c.846A>G (p.Leu282=)
c.528A>G (p.Leu176=)
c.330A>G (p.Leu110=)
c.*31A>G (n.*31A>G)
n.901A>G
c.105A>G (p.Leu35=)
 gnomAD v4
2g.101413015T>GCA427793556RFX8c.957A>C (p.Leu319=)
c.618A>C (p.Leu206=)
c.831A>C (p.Leu277=)
c.744A>C (p.Leu248=)
c.*334A>C (n.*334A>C)
c.846A>C (p.Leu282=)
c.528A>C (p.Leu176=)
c.330A>C (p.Leu110=)
c.*31A>C (n.*31A>C)
n.901A>C
c.105A>C (p.Leu35=)
2g.101413015_101413016dupCA2660437696RFX8c.956_957dup (p.Gln320TyrfsTer?)
c.617_618dup (p.Gln207TyrfsTer?)
c.830_831dup (p.Gln278TyrfsTer?)
c.743_744dup (p.Gln249TyrfsTer?)
c.*333_*334dup (n.*333_*334dup)
c.845_846dup (p.Gln283TyrfsTer?)
c.527_528dup (p.Gln177TyrfsTer?)
c.329_330dup (p.Gln111TyrfsTer?)
c.*30_*31dup (n.*30_*31dup)
n.900_901dup
c.104_105dup (p.Gln36TyrfsTer?)
 gnomAD v4
2g.101413016A>CCA347974473RFX8c.956T>G (p.Leu319Arg)
c.617T>G (p.Leu206Arg)
c.830T>G (p.Leu277Arg)
c.743T>G (p.Leu248Arg)
c.*333T>G (n.*333T>G)
c.845T>G (p.Leu282Arg)
c.527T>G (p.Leu176Arg)
c.329T>G (p.Leu110Arg)
c.*30T>G (n.*30T>G)
n.900T>G
c.104T>G (p.Leu35Arg)
2g.101413016A>GCA347974475RFX8c.956T>C (p.Leu319Pro)
c.617T>C (p.Leu206Pro)
c.830T>C (p.Leu277Pro)
c.743T>C (p.Leu248Pro)
c.*333T>C (n.*333T>C)
c.845T>C (p.Leu282Pro)
c.527T>C (p.Leu176Pro)
c.329T>C (p.Leu110Pro)
c.*30T>C (n.*30T>C)
n.900T>C
c.104T>C (p.Leu35Pro)
2g.101413016A>TCA347974474RFX8c.956T>A (p.Leu319Gln)
c.617T>A (p.Leu206Gln)
c.830T>A (p.Leu277Gln)
c.743T>A (p.Leu248Gln)
c.*333T>A (n.*333T>A)
c.845T>A (p.Leu282Gln)
c.527T>A (p.Leu176Gln)
c.329T>A (p.Leu110Gln)
c.*30T>A (n.*30T>A)
n.900T>A
c.104T>A (p.Leu35Gln)
2g.101413017G>ACA427793567RFX8c.955C>T (p.Leu319=)
c.616C>T (p.Leu206=)
c.829C>T (p.Leu277=)
c.742C>T (p.Leu248=)
c.*332C>T (n.*332C>T)
c.844C>T (p.Leu282=)
c.526C>T (p.Leu176=)
c.328C>T (p.Leu110=)
c.*29C>T (n.*29C>T)
n.899C>T
c.103C>T (p.Leu35=)
 dbSNP gnomAD v2
2g.101413017G>CCA347974476RFX8c.955C>G (p.Leu319Val)
c.616C>G (p.Leu206Val)
c.829C>G (p.Leu277Val)
c.742C>G (p.Leu248Val)
c.*332C>G (n.*332C>G)
c.844C>G (p.Leu282Val)
c.526C>G (p.Leu176Val)
c.328C>G (p.Leu110Val)
c.*29C>G (n.*29C>G)
n.899C>G
c.103C>G (p.Leu35Val)
 dbSNP gnomAD v2
2g.101413017G=CA1274778611RFX8c.955C= (p.Leu319=)
c.616C= (p.Leu206=)
c.829C= (p.Leu277=)
c.742C= (p.Leu248=)
c.*332C= (n.*332C=)
c.844C= (p.Leu282=)
c.526C= (p.Leu176=)
c.328C= (p.Leu110=)
c.*29C= (n.*29C=)
n.899C=
c.103C= (p.Leu35=)
2g.101413017G>TCA347974477RFX8c.955C>A (p.Leu319Ile)
c.616C>A (p.Leu206Ile)
c.829C>A (p.Leu277Ile)
c.742C>A (p.Leu248Ile)
c.*332C>A (n.*332C>A)
c.844C>A (p.Leu282Ile)
c.526C>A (p.Leu176Ile)
c.328C>A (p.Leu110Ile)
c.*29C>A (n.*29C>A)
n.899C>A
c.103C>A (p.Leu35Ile)
 dbSNP
2g.101413018A>CCA347974478RFX8c.954T>G (p.Asp318Glu)
c.615T>G (p.Asp205Glu)
c.828T>G (p.Asp276Glu)
c.741T>G (p.Asp247Glu)
c.*331T>G (n.*331T>G)
c.843T>G (p.Asp281Glu)
c.525T>G (p.Asp175Glu)
c.327T>G (p.Asp109Glu)
c.*28T>G (n.*28T>G)
n.898T>G
c.102T>G (p.Asp34Glu)
2g.101413018A>GCA427793574RFX8c.954T>C (p.Asp318=)
c.615T>C (p.Asp205=)
c.828T>C (p.Asp276=)
c.741T>C (p.Asp247=)
c.*331T>C (n.*331T>C)
c.843T>C (p.Asp281=)
c.525T>C (p.Asp175=)
c.327T>C (p.Asp109=)
c.*28T>C (n.*28T>C)
n.898T>C
c.102T>C (p.Asp34=)
2g.101413018A>TCA347974479RFX8c.954T>A (p.Asp318Glu)
c.615T>A (p.Asp205Glu)
c.828T>A (p.Asp276Glu)
c.741T>A (p.Asp247Glu)
c.*331T>A (n.*331T>A)
c.843T>A (p.Asp281Glu)
c.525T>A (p.Asp175Glu)
c.327T>A (p.Asp109Glu)
c.*28T>A (n.*28T>A)
n.898T>A
c.102T>A (p.Asp34Glu)
2g.101413019T>ACA347974480RFX8c.953A>T (p.Asp318Val)
c.614A>T (p.Asp205Val)
c.827A>T (p.Asp276Val)
c.740A>T (p.Asp247Val)
c.*330A>T (n.*330A>T)
c.842A>T (p.Asp281Val)
c.524A>T (p.Asp175Val)
c.326A>T (p.Asp109Val)
c.*27A>T (n.*27A>T)
n.897A>T
c.101A>T (p.Asp34Val)
2g.101413019T>CCA347974481RFX8c.953A>G (p.Asp318Gly)
c.614A>G (p.Asp205Gly)
c.827A>G (p.Asp276Gly)
c.740A>G (p.Asp247Gly)
c.*330A>G (n.*330A>G)
c.842A>G (p.Asp281Gly)
c.524A>G (p.Asp175Gly)
c.326A>G (p.Asp109Gly)
c.*27A>G (n.*27A>G)
n.897A>G
c.101A>G (p.Asp34Gly)
2g.101413019T>GCA347974482RFX8c.953A>C (p.Asp318Ala)
c.614A>C (p.Asp205Ala)
c.827A>C (p.Asp276Ala)
c.740A>C (p.Asp247Ala)
c.*330A>C (n.*330A>C)
c.842A>C (p.Asp281Ala)
c.524A>C (p.Asp175Ala)
c.326A>C (p.Asp109Ala)
c.*27A>C (n.*27A>C)
n.897A>C
c.101A>C (p.Asp34Ala)
2g.101413020C>ACA347974483RFX8c.952G>T (p.Asp318Tyr)
c.613G>T (p.Asp205Tyr)
c.826G>T (p.Asp276Tyr)
c.739G>T (p.Asp247Tyr)
c.*329G>T (n.*329G>T)
c.841G>T (p.Asp281Tyr)
c.523G>T (p.Asp175Tyr)
c.325G>T (p.Asp109Tyr)
c.*26G>T (n.*26G>T)
n.896G>T
c.100G>T (p.Asp34Tyr)
2g.101413020C=CA1274778612RFX8c.952G= (p.Asp318=)
c.613G= (p.Asp205=)
c.826G= (p.Asp276=)
c.739G= (p.Asp247=)
c.*329G= (n.*329G=)
c.841G= (p.Asp281=)
c.523G= (p.Asp175=)
c.325G= (p.Asp109=)
c.*26G= (n.*26G=)
n.896G=
c.100G= (p.Asp34=)
2g.101413020C>GCA347974484RFX8c.952G>C (p.Asp318His)
c.613G>C (p.Asp205His)
c.826G>C (p.Asp276His)
c.739G>C (p.Asp247His)
c.*329G>C (n.*329G>C)
c.841G>C (p.Asp281His)
c.523G>C (p.Asp175His)
c.325G>C (p.Asp109His)
c.*26G>C (n.*26G>C)
n.896G>C
c.100G>C (p.Asp34His)
2g.101413020C>TCA347974485RFX8c.952G>A (p.Asp318Asn)
c.613G>A (p.Asp205Asn)
c.826G>A (p.Asp276Asn)
c.739G>A (p.Asp247Asn)
c.*329G>A (n.*329G>A)
c.841G>A (p.Asp281Asn)
c.523G>A (p.Asp175Asn)
c.325G>A (p.Asp109Asn)
c.*26G>A (n.*26G>A)
n.896G>A
c.100G>A (p.Asp34Asn)
 dbSNP gnomAD v4
2g.101413021T>ACA427793594RFX8c.951A>T (p.Ser317=)
c.612A>T (p.Ser204=)
c.825A>T (p.Ser275=)
c.738A>T (p.Ser246=)
c.*328A>T (n.*328A>T)
c.840A>T (p.Ser280=)
c.522A>T (p.Ser174=)
c.324A>T (p.Ser108=)
c.*25A>T (n.*25A>T)
n.895A>T
c.99A>T (p.Ser33=)
2g.101413021T>CCA427793601RFX8c.951A>G (p.Ser317=)
c.612A>G (p.Ser204=)
c.825A>G (p.Ser275=)
c.738A>G (p.Ser246=)
c.*328A>G (n.*328A>G)
c.840A>G (p.Ser280=)
c.522A>G (p.Ser174=)
c.324A>G (p.Ser108=)
c.*25A>G (n.*25A>G)
n.895A>G
c.99A>G (p.Ser33=)
2g.101413021T>GCA427793598RFX8c.951A>C (p.Ser317=)
c.612A>C (p.Ser204=)
c.825A>C (p.Ser275=)
c.738A>C (p.Ser246=)
c.*328A>C (n.*328A>C)
c.840A>C (p.Ser280=)
c.522A>C (p.Ser174=)
c.324A>C (p.Ser108=)
c.*25A>C (n.*25A>C)
n.895A>C
c.99A>C (p.Ser33=)
2g.101413022G>ACA347974486RFX8c.950C>T (p.Ser317Leu)
c.611C>T (p.Ser204Leu)
c.824C>T (p.Ser275Leu)
c.737C>T (p.Ser246Leu)
c.*327C>T (n.*327C>T)
c.839C>T (p.Ser280Leu)
c.521C>T (p.Ser174Leu)
c.323C>T (p.Ser108Leu)
c.*24C>T (n.*24C>T)
n.894C>T
c.98C>T (p.Ser33Leu)
 dbSNP gnomAD v4
2g.101413022G>CCA347974487RFX8c.950C>G (p.Ser317Ter)
c.611C>G (p.Ser204Ter)
c.824C>G (p.Ser275Ter)
c.737C>G (p.Ser246Ter)
c.*327C>G (n.*327C>G)
c.839C>G (p.Ser280Ter)
c.521C>G (p.Ser174Ter)
c.323C>G (p.Ser108Ter)
c.*24C>G (n.*24C>G)
n.894C>G
c.98C>G (p.Ser33Ter)
2g.101413022G=CA1274778613RFX8c.950C= (p.Ser317=)
c.611C= (p.Ser204=)
c.824C= (p.Ser275=)
c.737C= (p.Ser246=)
c.*327C= (n.*327C=)
c.839C= (p.Ser280=)
c.521C= (p.Ser174=)
c.323C= (p.Ser108=)
c.*24C= (n.*24C=)
n.894C=
c.98C= (p.Ser33=)
2g.101413022G>TCA347974488RFX8c.950C>A (p.Ser317Ter)
c.611C>A (p.Ser204Ter)
c.824C>A (p.Ser275Ter)
c.737C>A (p.Ser246Ter)
c.*327C>A (n.*327C>A)
c.839C>A (p.Ser280Ter)
c.521C>A (p.Ser174Ter)
c.323C>A (p.Ser108Ter)
c.*24C>A (n.*24C>A)
n.894C>A
c.98C>A (p.Ser33Ter)
 gnomAD v4
2g.101413023A>CCA347974491RFX8c.949T>G (p.Ser317Ala)
c.610T>G (p.Ser204Ala)
c.823T>G (p.Ser275Ala)
c.736T>G (p.Ser246Ala)
c.*326T>G (n.*326T>G)
c.838T>G (p.Ser280Ala)
c.520T>G (p.Ser174Ala)
c.322T>G (p.Ser108Ala)
c.*23T>G (n.*23T>G)
n.893T>G
c.97T>G (p.Ser33Ala)
2g.101413023A>GCA347974490RFX8c.949T>C (p.Ser317Pro)
c.610T>C (p.Ser204Pro)
c.823T>C (p.Ser275Pro)
c.736T>C (p.Ser246Pro)
c.*326T>C (n.*326T>C)
c.838T>C (p.Ser280Pro)
c.520T>C (p.Ser174Pro)
c.322T>C (p.Ser108Pro)
c.*23T>C (n.*23T>C)
n.893T>C
c.97T>C (p.Ser33Pro)
2g.101413023A>TCA347974489RFX8c.949T>A (p.Ser317Thr)
c.610T>A (p.Ser204Thr)
c.823T>A (p.Ser275Thr)
c.736T>A (p.Ser246Thr)
c.*326T>A (n.*326T>A)
c.838T>A (p.Ser280Thr)
c.520T>A (p.Ser174Thr)
c.322T>A (p.Ser108Thr)
c.*23T>A (n.*23T>A)
n.893T>A
c.97T>A (p.Ser33Thr)
2g.101413024C>ACA347974492RFX8c.948G>T (p.Lys316Asn)
c.609G>T (p.Lys203Asn)
c.822G>T (p.Lys274Asn)
c.735G>T (p.Lys245Asn)
c.*325G>T (n.*325G>T)
c.837G>T (p.Lys279Asn)
c.519G>T (p.Lys173Asn)
c.321G>T (p.Lys107Asn)
c.*22G>T (n.*22G>T)
n.892G>T
c.96G>T (p.Lys32Asn)
2g.101413024C=CA1274778614RFX8c.948G= (p.Lys316=)
c.609G= (p.Lys203=)
c.822G= (p.Lys274=)
c.735G= (p.Lys245=)
c.*325G= (n.*325G=)
c.837G= (p.Lys279=)
c.519G= (p.Lys173=)
c.321G= (p.Lys107=)
c.*22G= (n.*22G=)
n.892G=
c.96G= (p.Lys32=)
2g.101413024C>GCA347974493RFX8c.948G>C (p.Lys316Asn)
c.609G>C (p.Lys203Asn)
c.822G>C (p.Lys274Asn)
c.735G>C (p.Lys245Asn)
c.*325G>C (n.*325G>C)
c.837G>C (p.Lys279Asn)
c.519G>C (p.Lys173Asn)
c.321G>C (p.Lys107Asn)
c.*22G>C (n.*22G>C)
n.892G>C
c.96G>C (p.Lys32Asn)
2g.101413024C>TCA427793624RFX8c.948G>A (p.Lys316=)
c.609G>A (p.Lys203=)
c.822G>A (p.Lys274=)
c.735G>A (p.Lys245=)
c.*325G>A (n.*325G>A)
c.837G>A (p.Lys279=)
c.519G>A (p.Lys173=)
c.321G>A (p.Lys107=)
c.*22G>A (n.*22G>A)
n.892G>A
c.96G>A (p.Lys32=)
 dbSNP gnomAD v3 gnomAD v4
2g.101413025T>ACA347974494RFX8c.947A>T (p.Lys316Met)
c.608A>T (p.Lys203Met)
c.821A>T (p.Lys274Met)
c.734A>T (p.Lys245Met)
c.*324A>T (n.*324A>T)
c.836A>T (p.Lys279Met)
c.518A>T (p.Lys173Met)
c.320A>T (p.Lys107Met)
c.*21A>T (n.*21A>T)
n.891A>T
c.95A>T (p.Lys32Met)
2g.101413025T>CCA347974495RFX8c.947A>G (p.Lys316Arg)
c.608A>G (p.Lys203Arg)
c.821A>G (p.Lys274Arg)
c.734A>G (p.Lys245Arg)
c.*324A>G (n.*324A>G)
c.836A>G (p.Lys279Arg)
c.518A>G (p.Lys173Arg)
c.320A>G (p.Lys107Arg)
c.*21A>G (n.*21A>G)
n.891A>G
c.95A>G (p.Lys32Arg)
2g.101413025T>GCA347974496RFX8c.947A>C (p.Lys316Thr)
c.608A>C (p.Lys203Thr)
c.821A>C (p.Lys274Thr)
c.734A>C (p.Lys245Thr)
c.*324A>C (n.*324A>C)
c.836A>C (p.Lys279Thr)
c.518A>C (p.Lys173Thr)
c.320A>C (p.Lys107Thr)
c.*21A>C (n.*21A>C)
n.891A>C
c.95A>C (p.Lys32Thr)
2g.101413026T>ACA347974497RFX8c.946A>T (p.Lys316Ter)
c.607A>T (p.Lys203Ter)
c.820A>T (p.Lys274Ter)
c.733A>T (p.Lys245Ter)
c.*323A>T (n.*323A>T)
c.835A>T (p.Lys279Ter)
c.517A>T (p.Lys173Ter)
c.319A>T (p.Lys107Ter)
c.*20A>T (n.*20A>T)
n.890A>T
c.94A>T (p.Lys32Ter)
2g.101413026T>CCA347974498RFX8c.946A>G (p.Lys316Glu)
c.607A>G (p.Lys203Glu)
c.820A>G (p.Lys274Glu)
c.733A>G (p.Lys245Glu)
c.*323A>G (n.*323A>G)
c.835A>G (p.Lys279Glu)
c.517A>G (p.Lys173Glu)
c.319A>G (p.Lys107Glu)
c.*20A>G (n.*20A>G)
n.890A>G
c.94A>G (p.Lys32Glu)
2g.101413026T>GCA347974499RFX8c.946A>C (p.Lys316Gln)
c.607A>C (p.Lys203Gln)
c.820A>C (p.Lys274Gln)
c.733A>C (p.Lys245Gln)
c.*323A>C (n.*323A>C)
c.835A>C (p.Lys279Gln)
c.517A>C (p.Lys173Gln)
c.319A>C (p.Lys107Gln)
c.*20A>C (n.*20A>C)
n.890A>C
c.94A>C (p.Lys32Gln)
2g.101413027C>ACA347974500RFX8c.945G>T (p.Leu315Phe)
c.606G>T (p.Leu202Phe)
c.819G>T (p.Leu273Phe)
c.732G>T (p.Leu244Phe)
c.*322G>T (n.*322G>T)
c.834G>T (p.Leu278Phe)
c.516G>T (p.Leu172Phe)
c.318G>T (p.Leu106Phe)
c.*19G>T (n.*19G>T)
n.889G>T
c.93G>T (p.Leu31Phe)
2g.101413027C=CA1274778615RFX8c.945G= (p.Leu315=)
c.606G= (p.Leu202=)
c.819G= (p.Leu273=)
c.732G= (p.Leu244=)
c.*322G= (n.*322G=)
c.834G= (p.Leu278=)
c.516G= (p.Leu172=)
c.318G= (p.Leu106=)
c.*19G= (n.*19G=)
n.889G=
c.93G= (p.Leu31=)
2g.101413027C>GCA1806433RFX8c.945G>C (p.Leu315Phe)
c.606G>C (p.Leu202Phe)
c.819G>C (p.Leu273Phe)
c.732G>C (p.Leu244Phe)
c.*322G>C (n.*322G>C)
c.834G>C (p.Leu278Phe)
c.516G>C (p.Leu172Phe)
c.318G>C (p.Leu106Phe)
c.*19G>C (n.*19G>C)
n.889G>C
c.93G>C (p.Leu31Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.101413027C>TCA427793639RFX8c.945G>A (p.Leu315=)
c.606G>A (p.Leu202=)
c.819G>A (p.Leu273=)
c.732G>A (p.Leu244=)
c.*322G>A (n.*322G>A)
c.834G>A (p.Leu278=)
c.516G>A (p.Leu172=)
c.318G>A (p.Leu106=)
c.*19G>A (n.*19G>A)
n.889G>A
c.93G>A (p.Leu31=)
2g.101413028A>CCA347974501RFX8c.944T>G (p.Leu315Trp)
c.605T>G (p.Leu202Trp)
c.818T>G (p.Leu273Trp)
c.731T>G (p.Leu244Trp)
c.*321T>G (n.*321T>G)
c.833T>G (p.Leu278Trp)
c.515T>G (p.Leu172Trp)
c.317T>G (p.Leu106Trp)
c.*18T>G (n.*18T>G)
n.888T>G
c.92T>G (p.Leu31Trp)
2g.101413028A>GCA347974502RFX8c.944T>C (p.Leu315Ser)
c.605T>C (p.Leu202Ser)
c.818T>C (p.Leu273Ser)
c.731T>C (p.Leu244Ser)
c.*321T>C (n.*321T>C)
c.833T>C (p.Leu278Ser)
c.515T>C (p.Leu172Ser)
c.317T>C (p.Leu106Ser)
c.*18T>C (n.*18T>C)
n.888T>C
c.92T>C (p.Leu31Ser)
 gnomAD v4
2g.101413028A>TCA347974503RFX8c.944T>A (p.Leu315Ter)
c.605T>A (p.Leu202Ter)
c.818T>A (p.Leu273Ter)
c.731T>A (p.Leu244Ter)
c.*321T>A (n.*321T>A)
c.833T>A (p.Leu278Ter)
c.515T>A (p.Leu172Ter)
c.317T>A (p.Leu106Ter)
c.*18T>A (n.*18T>A)
n.888T>A
c.92T>A (p.Leu31Ter)
2g.101413029A>CCA347974505RFX8c.943T>G (p.Leu315Val)
c.604T>G (p.Leu202Val)
c.817T>G (p.Leu273Val)
c.730T>G (p.Leu244Val)
c.*320T>G (n.*320T>G)
c.832T>G (p.Leu278Val)
c.514T>G (p.Leu172Val)
c.316T>G (p.Leu106Val)
c.*17T>G (n.*17T>G)
n.887T>G
c.91T>G (p.Leu31Val)
2g.101413029A>GCA427793656RFX8c.943T>C (p.Leu315=)
c.604T>C (p.Leu202=)
c.817T>C (p.Leu273=)
c.730T>C (p.Leu244=)
c.*320T>C (n.*320T>C)
c.832T>C (p.Leu278=)
c.514T>C (p.Leu172=)
c.316T>C (p.Leu106=)
c.*17T>C (n.*17T>C)
n.887T>C
c.91T>C (p.Leu31=)
2g.101413029A>TCA347974504RFX8c.943T>A (p.Leu315Met)
c.604T>A (p.Leu202Met)
c.817T>A (p.Leu273Met)
c.730T>A (p.Leu244Met)
c.*320T>A (n.*320T>A)
c.832T>A (p.Leu278Met)
c.514T>A (p.Leu172Met)
c.316T>A (p.Leu106Met)
c.*17T>A (n.*17T>A)
n.887T>A
c.91T>A (p.Leu31Met)
2g.101413030A>CCA427793661RFX8c.942T>G (p.Val314=)
c.603T>G (p.Val201=)
c.816T>G (p.Val272=)
c.729T>G (p.Val243=)
c.*319T>G (n.*319T>G)
c.831T>G (p.Val277=)
c.513T>G (p.Val171=)
c.315T>G (p.Val105=)
c.*16T>G (n.*16T>G)
n.886T>G
c.90T>G (p.Val30=)
2g.101413030A>GCA427793664RFX8c.942T>C (p.Val314=)
c.603T>C (p.Val201=)
c.816T>C (p.Val272=)
c.729T>C (p.Val243=)
c.*319T>C (n.*319T>C)
c.831T>C (p.Val277=)
c.513T>C (p.Val171=)
c.315T>C (p.Val105=)
c.*16T>C (n.*16T>C)
n.886T>C
c.90T>C (p.Val30=)
2g.101413030A>TCA427793666RFX8c.942T>A (p.Val314=)
c.603T>A (p.Val201=)
c.816T>A (p.Val272=)
c.729T>A (p.Val243=)
c.*319T>A (n.*319T>A)
c.831T>A (p.Val277=)
c.513T>A (p.Val171=)
c.315T>A (p.Val105=)
c.*16T>A (n.*16T>A)
n.886T>A
c.90T>A (p.Val30=)
2g.101413031A>CCA347974506RFX8c.941T>G (p.Val314Gly)
c.602T>G (p.Val201Gly)
c.815T>G (p.Val272Gly)
c.728T>G (p.Val243Gly)
c.*318T>G (n.*318T>G)
c.830T>G (p.Val277Gly)
c.512T>G (p.Val171Gly)
c.314T>G (p.Val105Gly)
c.*15T>G (n.*15T>G)
n.885T>G
c.89T>G (p.Val30Gly)
2g.101413031A>GCA347974507RFX8c.941T>C (p.Val314Ala)
c.602T>C (p.Val201Ala)
c.815T>C (p.Val272Ala)
c.728T>C (p.Val243Ala)
c.*318T>C (n.*318T>C)
c.830T>C (p.Val277Ala)
c.512T>C (p.Val171Ala)
c.314T>C (p.Val105Ala)
c.*15T>C (n.*15T>C)
n.885T>C
c.89T>C (p.Val30Ala)
2g.101413031A>TCA347974508RFX8c.941T>A (p.Val314Asp)
c.602T>A (p.Val201Asp)
c.815T>A (p.Val272Asp)
c.728T>A (p.Val243Asp)
c.*318T>A (n.*318T>A)
c.830T>A (p.Val277Asp)
c.512T>A (p.Val171Asp)
c.314T>A (p.Val105Asp)
c.*15T>A (n.*15T>A)
n.885T>A
c.89T>A (p.Val30Asp)
2g.101413032C>ACA347974509RFX8c.940G>T (p.Val314Phe)
c.601G>T (p.Val201Phe)
c.814G>T (p.Val272Phe)
c.727G>T (p.Val243Phe)
c.*317G>T (n.*317G>T)
c.829G>T (p.Val277Phe)
c.511G>T (p.Val171Phe)
c.313G>T (p.Val105Phe)
c.*14G>T (n.*14G>T)
n.884G>T
c.88G>T (p.Val30Phe)
2g.101413032C=CA1274778616RFX8c.940G= (p.Val314=)
c.601G= (p.Val201=)
c.814G= (p.Val272=)
c.727G= (p.Val243=)
c.*317G= (n.*317G=)
c.829G= (p.Val277=)
c.511G= (p.Val171=)
c.313G= (p.Val105=)
c.*14G= (n.*14G=)
n.884G=
c.88G= (p.Val30=)
2g.101413032C>GCA347974510RFX8c.940G>C (p.Val314Leu)
c.601G>C (p.Val201Leu)
c.814G>C (p.Val272Leu)
c.727G>C (p.Val243Leu)
c.*317G>C (n.*317G>C)
c.829G>C (p.Val277Leu)
c.511G>C (p.Val171Leu)
c.313G>C (p.Val105Leu)
c.*14G>C (n.*14G>C)
n.884G>C
c.88G>C (p.Val30Leu)
2g.101413032C>TCA53230250RFX8c.940G>A (p.Val314Ile)
c.601G>A (p.Val201Ile)
c.814G>A (p.Val272Ile)
c.727G>A (p.Val243Ile)
c.*317G>A (n.*317G>A)
c.829G>A (p.Val277Ile)
c.511G>A (p.Val171Ile)
c.313G>A (p.Val105Ile)
c.*14G>A (n.*14G>A)
n.884G>A
c.88G>A (p.Val30Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101413033G>ACA427793685RFX8c.939C>T (p.Ser313=)
c.600C>T (p.Ser200=)
c.813C>T (p.Ser271=)
c.726C>T (p.Ser242=)
c.*316C>T (n.*316C>T)
c.828C>T (p.Ser276=)
c.510C>T (p.Ser170=)
c.312C>T (p.Ser104=)
c.*13C>T (n.*13C>T)
n.883C>T
c.87C>T (p.Ser29=)
 gnomAD v4
2g.101413033G>CCA347974512RFX8c.939C>G (p.Ser313Arg)
c.600C>G (p.Ser200Arg)
c.813C>G (p.Ser271Arg)
c.726C>G (p.Ser242Arg)
c.*316C>G (n.*316C>G)
c.828C>G (p.Ser276Arg)
c.510C>G (p.Ser170Arg)
c.312C>G (p.Ser104Arg)
c.*13C>G (n.*13C>G)
n.883C>G
c.87C>G (p.Ser29Arg)
2g.101413033G>TCA347974511RFX8c.939C>A (p.Ser313Arg)
c.600C>A (p.Ser200Arg)
c.813C>A (p.Ser271Arg)
c.726C>A (p.Ser242Arg)
c.*316C>A (n.*316C>A)
c.828C>A (p.Ser276Arg)
c.510C>A (p.Ser170Arg)
c.312C>A (p.Ser104Arg)
c.*13C>A (n.*13C>A)
n.883C>A
c.87C>A (p.Ser29Arg)
2g.101413034C>ACA347974513RFX8c.938G>T (p.Ser313Ile)
c.599G>T (p.Ser200Ile)
c.812G>T (p.Ser271Ile)
c.725G>T (p.Ser242Ile)
c.*315G>T (n.*315G>T)
c.827G>T (p.Ser276Ile)
c.509G>T (p.Ser170Ile)
c.311G>T (p.Ser104Ile)
c.*12G>T (n.*12G>T)
n.882G>T
c.86G>T (p.Ser29Ile)
2g.101413034C>GCA347974514RFX8c.938G>C (p.Ser313Thr)
c.599G>C (p.Ser200Thr)
c.812G>C (p.Ser271Thr)
c.725G>C (p.Ser242Thr)
c.*315G>C (n.*315G>C)
c.827G>C (p.Ser276Thr)
c.509G>C (p.Ser170Thr)
c.311G>C (p.Ser104Thr)
c.*12G>C (n.*12G>C)
n.882G>C
c.86G>C (p.Ser29Thr)
2g.101413034C>TCA347974515RFX8c.938G>A (p.Ser313Asn)
c.599G>A (p.Ser200Asn)
c.812G>A (p.Ser271Asn)
c.725G>A (p.Ser242Asn)
c.*315G>A (n.*315G>A)
c.827G>A (p.Ser276Asn)
c.509G>A (p.Ser170Asn)
c.311G>A (p.Ser104Asn)
c.*12G>A (n.*12G>A)
n.882G>A
c.86G>A (p.Ser29Asn)
 gnomAD v4
2g.101413035T>ACA347974516RFX8c.937A>T (p.Ser313Cys)
c.598A>T (p.Ser200Cys)
c.811A>T (p.Ser271Cys)
c.724A>T (p.Ser242Cys)
c.*314A>T (n.*314A>T)
c.826A>T (p.Ser276Cys)
c.508A>T (p.Ser170Cys)
c.310A>T (p.Ser104Cys)
c.*11A>T (n.*11A>T)
n.881A>T
c.85A>T (p.Ser29Cys)
2g.101413035T>CCA347974517RFX8c.937A>G (p.Ser313Gly)
c.598A>G (p.Ser200Gly)
c.811A>G (p.Ser271Gly)
c.724A>G (p.Ser242Gly)
c.*314A>G (n.*314A>G)
c.826A>G (p.Ser276Gly)
c.508A>G (p.Ser170Gly)
c.310A>G (p.Ser104Gly)
c.*11A>G (n.*11A>G)
n.881A>G
c.85A>G (p.Ser29Gly)
2g.101413035T>GCA347974518RFX8c.937A>C (p.Ser313Arg)
c.598A>C (p.Ser200Arg)
c.811A>C (p.Ser271Arg)
c.724A>C (p.Ser242Arg)
c.*314A>C (n.*314A>C)
c.826A>C (p.Ser276Arg)
c.508A>C (p.Ser170Arg)
c.310A>C (p.Ser104Arg)
c.*11A>C (n.*11A>C)
n.881A>C
c.85A>C (p.Ser29Arg)
2g.101413036G>ACA427793732RFX8c.936C>T (p.Val312=)
c.597C>T (p.Val199=)
c.810C>T (p.Val270=)
c.723C>T (p.Val241=)
c.*313C>T (n.*313C>T)
c.825C>T (p.Val275=)
c.507C>T (p.Val169=)
c.309C>T (p.Val103=)
c.*10C>T (n.*10C>T)
n.880C>T
c.84C>T (p.Val28=)
2g.101413036G>CCA427793729RFX8c.936C>G (p.Val312=)
c.597C>G (p.Val199=)
c.810C>G (p.Val270=)
c.723C>G (p.Val241=)
c.*313C>G (n.*313C>G)
c.825C>G (p.Val275=)
c.507C>G (p.Val169=)
c.309C>G (p.Val103=)
c.*10C>G (n.*10C>G)
n.880C>G
c.84C>G (p.Val28=)
 gnomAD v4
2g.101413036G>TCA427793719RFX8c.936C>A (p.Val312=)
c.597C>A (p.Val199=)
c.810C>A (p.Val270=)
c.723C>A (p.Val241=)
c.*313C>A (n.*313C>A)
c.825C>A (p.Val275=)
c.507C>A (p.Val169=)
c.309C>A (p.Val103=)
c.*10C>A (n.*10C>A)
n.880C>A
c.84C>A (p.Val28=)
 gnomAD v4
2g.101413037A=CA1274778617RFX8c.935T= (p.Val312=)
c.596T= (p.Val199=)
c.809T= (p.Val270=)
c.722T= (p.Val241=)
c.*312T= (n.*312T=)
c.824T= (p.Val275=)
c.506T= (p.Val169=)
c.308T= (p.Val103=)
c.*9T= (n.*9T=)
n.879T=
c.83T= (p.Val28=)
2g.101413037A>CCA347974519RFX8c.935T>G (p.Val312Gly)
c.596T>G (p.Val199Gly)
c.809T>G (p.Val270Gly)
c.722T>G (p.Val241Gly)
c.*312T>G (n.*312T>G)
c.824T>G (p.Val275Gly)
c.506T>G (p.Val169Gly)
c.308T>G (p.Val103Gly)
c.*9T>G (n.*9T>G)
n.879T>G
c.83T>G (p.Val28Gly)
2g.101413037A>GCA347974521RFX8c.935T>C (p.Val312Ala)
c.596T>C (p.Val199Ala)
c.809T>C (p.Val270Ala)
c.722T>C (p.Val241Ala)
c.*312T>C (n.*312T>C)
c.824T>C (p.Val275Ala)
c.506T>C (p.Val169Ala)
c.308T>C (p.Val103Ala)
c.*9T>C (n.*9T>C)
n.879T>C
c.83T>C (p.Val28Ala)
 gnomAD v4
2g.101413037A>TCA347974520RFX8c.935T>A (p.Val312Asp)
c.596T>A (p.Val199Asp)
c.809T>A (p.Val270Asp)
c.722T>A (p.Val241Asp)
c.*312T>A (n.*312T>A)
c.824T>A (p.Val275Asp)
c.506T>A (p.Val169Asp)
c.308T>A (p.Val103Asp)
c.*9T>A (n.*9T>A)
n.879T>A
c.83T>A (p.Val28Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.101413038C>ACA347974522RFX8c.934G>T (p.Val312Phe)
c.595G>T (p.Val199Phe)
c.808G>T (p.Val270Phe)
c.721G>T (p.Val241Phe)
c.*311G>T (n.*311G>T)
c.823G>T (p.Val275Phe)
c.505G>T (p.Val169Phe)
c.307G>T (p.Val103Phe)
c.*8G>T (n.*8G>T)
n.878G>T
c.82G>T (p.Val28Phe)
2g.101413038C>GCA347974523RFX8c.934G>C (p.Val312Leu)
c.595G>C (p.Val199Leu)
c.808G>C (p.Val270Leu)
c.721G>C (p.Val241Leu)
c.*311G>C (n.*311G>C)
c.823G>C (p.Val275Leu)
c.505G>C (p.Val169Leu)
c.307G>C (p.Val103Leu)
c.*8G>C (n.*8G>C)
n.878G>C
c.82G>C (p.Val28Leu)
2g.101413038C>TCA347974524RFX8c.934G>A (p.Val312Ile)
c.595G>A (p.Val199Ile)
c.808G>A (p.Val270Ile)
c.721G>A (p.Val241Ile)
c.*311G>A (n.*311G>A)
c.823G>A (p.Val275Ile)
c.505G>A (p.Val169Ile)
c.307G>A (p.Val103Ile)
c.*8G>A (n.*8G>A)
n.878G>A
c.82G>A (p.Val28Ile)
2g.101413039A=CA1274778618RFX8c.933T= (p.Arg311=)
c.594T= (p.Arg198=)
c.807T= (p.Arg269=)
c.720T= (p.Arg240=)
c.*310T= (n.*310T=)
c.822T= (p.Arg274=)
c.504T= (p.Arg168=)
c.306T= (p.Arg102=)
c.*7T= (n.*7T=)
n.877T=
c.81T= (p.Arg27=)
2g.101413039A>CCA427793748RFX8c.933T>G (p.Arg311=)
c.594T>G (p.Arg198=)
c.807T>G (p.Arg269=)
c.720T>G (p.Arg240=)
c.*310T>G (n.*310T>G)
c.822T>G (p.Arg274=)
c.504T>G (p.Arg168=)
c.306T>G (p.Arg102=)
c.*7T>G (n.*7T>G)
n.877T>G
c.81T>G (p.Arg27=)
2g.101413039A>GCA427793756RFX8c.933T>C (p.Arg311=)
c.594T>C (p.Arg198=)
c.807T>C (p.Arg269=)
c.720T>C (p.Arg240=)
c.*310T>C (n.*310T>C)
c.822T>C (p.Arg274=)
c.504T>C (p.Arg168=)
c.306T>C (p.Arg102=)
c.*7T>C (n.*7T>C)
n.877T>C
c.81T>C (p.Arg27=)
2g.101413039A>TCA427793752RFX8c.933T>A (p.Arg311=)
c.594T>A (p.Arg198=)
c.807T>A (p.Arg269=)
c.720T>A (p.Arg240=)
c.*310T>A (n.*310T>A)
c.822T>A (p.Arg274=)
c.504T>A (p.Arg168=)
c.306T>A (p.Arg102=)
c.*7T>A (n.*7T>A)
n.877T>A
c.81T>A (p.Arg27=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101413040C>ACA347974525RFX8c.932G>T (p.Arg311Leu)
c.593G>T (p.Arg198Leu)
c.806G>T (p.Arg269Leu)
c.719G>T (p.Arg240Leu)
c.*309G>T (n.*309G>T)
c.821G>T (p.Arg274Leu)
c.503G>T (p.Arg168Leu)
c.305G>T (p.Arg102Leu)
c.*6G>T (n.*6G>T)
n.876G>T
c.80G>T (p.Arg27Leu)
2g.101413040C=CA1274778619RFX8c.932G= (p.Arg311=)
c.593G= (p.Arg198=)
c.806G= (p.Arg269=)
c.719G= (p.Arg240=)
c.*309G= (n.*309G=)
c.821G= (p.Arg274=)
c.503G= (p.Arg168=)
c.305G= (p.Arg102=)
c.*6G= (n.*6G=)
n.876G=
c.80G= (p.Arg27=)
2g.101413040C>GCA347974526RFX8c.932G>C (p.Arg311Pro)
c.593G>C (p.Arg198Pro)
c.806G>C (p.Arg269Pro)
c.719G>C (p.Arg240Pro)
c.*309G>C (n.*309G>C)
c.821G>C (p.Arg274Pro)
c.503G>C (p.Arg168Pro)
c.305G>C (p.Arg102Pro)
c.*6G>C (n.*6G>C)
n.876G>C
c.80G>C (p.Arg27Pro)
2g.101413040C>TCA53230252RFX8c.932G>A (p.Arg311His)
c.593G>A (p.Arg198His)
c.806G>A (p.Arg269His)
c.719G>A (p.Arg240His)
c.*309G>A (n.*309G>A)
c.821G>A (p.Arg274His)
c.503G>A (p.Arg168His)
c.305G>A (p.Arg102His)
c.*6G>A (n.*6G>A)
n.876G>A
c.80G>A (p.Arg27His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101413041G>ACA347974527RFX8c.931C>T (p.Arg311Cys)
c.592C>T (p.Arg198Cys)
c.805C>T (p.Arg269Cys)
c.718C>T (p.Arg240Cys)
c.*308C>T (n.*308C>T)
c.820C>T (p.Arg274Cys)
c.502C>T (p.Arg168Cys)
c.304C>T (p.Arg102Cys)
c.*5C>T (n.*5C>T)
n.875C>T
c.79C>T (p.Arg27Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.101413041G>CCA347974528RFX8c.931C>G (p.Arg311Gly)
c.592C>G (p.Arg198Gly)
c.805C>G (p.Arg269Gly)
c.718C>G (p.Arg240Gly)
c.*308C>G (n.*308C>G)
c.820C>G (p.Arg274Gly)
c.502C>G (p.Arg168Gly)
c.304C>G (p.Arg102Gly)
c.*5C>G (n.*5C>G)
n.875C>G
c.79C>G (p.Arg27Gly)
2g.101413041G=CA1274778620RFX8c.931C= (p.Arg311=)
c.592C= (p.Arg198=)
c.805C= (p.Arg269=)
c.718C= (p.Arg240=)
c.*308C= (n.*308C=)
c.820C= (p.Arg274=)
c.502C= (p.Arg168=)
c.304C= (p.Arg102=)
c.*5C= (n.*5C=)
n.875C=
c.79C= (p.Arg27=)
2g.101413041G>TCA347974529RFX8c.931C>A (p.Arg311Ser)
c.592C>A (p.Arg198Ser)
c.805C>A (p.Arg269Ser)
c.718C>A (p.Arg240Ser)
c.*308C>A (n.*308C>A)
c.820C>A (p.Arg274Ser)
c.502C>A (p.Arg168Ser)
c.304C>A (p.Arg102Ser)
c.*5C>A (n.*5C>A)
n.875C>A
c.79C>A (p.Arg27Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.101413042C>ACA347974530RFX8c.930G>T (p.Arg310Ser)
c.591G>T (p.Arg197Ser)
c.804G>T (p.Arg268Ser)
c.717G>T (p.Arg239Ser)
c.*307G>T (n.*307G>T)
c.819G>T (p.Arg273Ser)
c.501G>T (p.Arg167Ser)
c.303G>T (p.Arg101Ser)
c.*4G>T (n.*4G>T)
n.874G>T
c.78G>T (p.Arg26Ser)
2g.101413042C=CA1274778621RFX8c.930G= (p.Arg310=)
c.591G= (p.Arg197=)
c.804G= (p.Arg268=)
c.717G= (p.Arg239=)
c.*307G= (n.*307G=)
c.819G= (p.Arg273=)
c.501G= (p.Arg167=)
c.303G= (p.Arg101=)
c.*4G= (n.*4G=)
n.874G=
c.78G= (p.Arg26=)
2g.101413042C>GCA347974531RFX8c.930G>C (p.Arg310Ser)
c.591G>C (p.Arg197Ser)
c.804G>C (p.Arg268Ser)
c.717G>C (p.Arg239Ser)
c.*307G>C (n.*307G>C)
c.819G>C (p.Arg273Ser)
c.501G>C (p.Arg167Ser)
c.303G>C (p.Arg101Ser)
c.*4G>C (n.*4G>C)
n.874G>C
c.78G>C (p.Arg26Ser)
 dbSNP
2g.101413042C>TCA427793782RFX8c.930G>A (p.Arg310=)
c.591G>A (p.Arg197=)
c.804G>A (p.Arg268=)
c.717G>A (p.Arg239=)
c.*307G>A (n.*307G>A)
c.819G>A (p.Arg273=)
c.501G>A (p.Arg167=)
c.303G>A (p.Arg101=)
c.*4G>A (n.*4G>A)
n.874G>A
c.78G>A (p.Arg26=)
 gnomAD v4
2g.101413043C>ACA347974532RFX8c.929G>T (p.Arg310Met)
c.590G>T (p.Arg197Met)
c.803G>T (p.Arg268Met)
c.716G>T (p.Arg239Met)
c.*306G>T (n.*306G>T)
c.818G>T (p.Arg273Met)
c.500G>T (p.Arg167Met)
c.302G>T (p.Arg101Met)
c.*3G>T (n.*3G>T)
n.873G>T
c.77G>T (p.Arg26Met)
2g.101413043C=CA1274778622RFX8c.929G= (p.Arg310=)
c.590G= (p.Arg197=)
c.803G= (p.Arg268=)
c.716G= (p.Arg239=)
c.*306G= (n.*306G=)
c.818G= (p.Arg273=)
c.500G= (p.Arg167=)
c.302G= (p.Arg101=)
c.*3G= (n.*3G=)
n.873G=
c.77G= (p.Arg26=)
2g.101413043C>GCA347974534RFX8c.929G>C (p.Arg310Thr)
c.590G>C (p.Arg197Thr)
c.803G>C (p.Arg268Thr)
c.716G>C (p.Arg239Thr)
c.*306G>C (n.*306G>C)
c.818G>C (p.Arg273Thr)
c.500G>C (p.Arg167Thr)
c.302G>C (p.Arg101Thr)
c.*3G>C (n.*3G>C)
n.873G>C
c.77G>C (p.Arg26Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.101413043C>TCA347974533RFX8c.929G>A (p.Arg310Lys)
c.590G>A (p.Arg197Lys)
c.803G>A (p.Arg268Lys)
c.716G>A (p.Arg239Lys)
c.*306G>A (n.*306G>A)
c.818G>A (p.Arg273Lys)
c.500G>A (p.Arg167Lys)
c.302G>A (p.Arg101Lys)
c.*3G>A (n.*3G>A)
n.873G>A
c.77G>A (p.Arg26Lys)
2g.101413044T>ACA347974535RFX8c.928A>T (p.Arg310Trp)
c.589A>T (p.Arg197Trp)
c.802A>T (p.Arg268Trp)
c.715A>T (p.Arg239Trp)
c.*305A>T (n.*305A>T)
c.817A>T (p.Arg273Trp)
c.499A>T (p.Arg167Trp)
c.301A>T (p.Arg101Trp)
c.*2A>T (n.*2A>T)
n.872A>T
c.76A>T (p.Arg26Trp)
2g.101413044T>CCA347974536RFX8c.928A>G (p.Arg310Gly)
c.589A>G (p.Arg197Gly)
c.802A>G (p.Arg268Gly)
c.715A>G (p.Arg239Gly)
c.*305A>G (n.*305A>G)
c.817A>G (p.Arg273Gly)
c.499A>G (p.Arg167Gly)
c.301A>G (p.Arg101Gly)
c.*2A>G (n.*2A>G)
n.872A>G
c.76A>G (p.Arg26Gly)
2g.101413044T>GCA427793796RFX8c.928A>C (p.Arg310=)
c.589A>C (p.Arg197=)
c.802A>C (p.Arg268=)
c.715A>C (p.Arg239=)
c.*305A>C (n.*305A>C)
c.817A>C (p.Arg273=)
c.499A>C (p.Arg167=)
c.301A>C (p.Arg101=)
c.*2A>C (n.*2A>C)
n.872A>C
c.76A>C (p.Arg26=)
2g.101413045C>ACA347974537RFX8c.927G>T (p.Lys309Asn)
c.588G>T (p.Lys196Asn)
c.801G>T (p.Lys267Asn)
c.714G>T (p.Lys238Asn)
c.*304G>T (n.*304G>T)
c.816G>T (p.Lys272Asn)
c.498G>T (p.Lys166Asn)
c.300G>T (p.Lys100Asn)
c.*1G>T (n.*1G>T)
n.871G>T
c.75G>T (p.Lys25Asn)
2g.101413045C>GCA347974538RFX8c.927G>C (p.Lys309Asn)
c.588G>C (p.Lys196Asn)
c.801G>C (p.Lys267Asn)
c.714G>C (p.Lys238Asn)
c.*304G>C (n.*304G>C)
c.816G>C (p.Lys272Asn)
c.498G>C (p.Lys166Asn)
c.300G>C (p.Lys100Asn)
c.*1G>C (n.*1G>C)
n.871G>C
c.75G>C (p.Lys25Asn)
2g.101413045C>TCA427793801RFX8c.927G>A (p.Lys309=)
c.588G>A (p.Lys196=)
c.801G>A (p.Lys267=)
c.714G>A (p.Lys238=)
c.*304G>A (n.*304G>A)
c.816G>A (p.Lys272=)
c.498G>A (p.Lys166=)
c.300G>A (p.Lys100=)
c.*1G>A (n.*1G>A)
n.871G>A
c.75G>A (p.Lys25=)
2g.101413048_101413051delCA427793805RFX8c.924_927del (p.Ser308ArgfsTer7)
c.585_588del (p.Ser195ArgfsTer7)
c.798_801del (p.Ser266ArgfsTer7)
c.711_714del (p.Ser237ArgfsTer7)
c.*301_*304del (n.*301_*304del)
c.813_816del (p.Ser271ArgfsTer7)
c.495_498del (p.Ser165ArgfsTer7)
c.297_300del (p.Ser99ArgfsTer7)
c.754_*1del (n.[c.754_*1del;Ter252ArgextTer?])
n.868_871del
c.72_75del (p.Ser24ArgfsTer7)
2g.101413046T>ACA347974539RFX8c.926A>T (p.Lys309Met)
c.587A>T (p.Lys196Met)
c.800A>T (p.Lys267Met)
c.713A>T (p.Lys238Met)
c.*303A>T (n.*303A>T)
c.815A>T (p.Lys272Met)
c.497A>T (p.Lys166Met)
c.299A>T (p.Lys100Met)
c.756A>T (p.Ter252Tyr)
n.870A>T
c.74A>T (p.Lys25Met)
2g.101413046T>CCA347974540RFX8c.926A>G (p.Lys309Arg)
c.587A>G (p.Lys196Arg)
c.800A>G (p.Lys267Arg)
c.713A>G (p.Lys238Arg)
c.*303A>G (n.*303A>G)
c.815A>G (p.Lys272Arg)
c.497A>G (p.Lys166Arg)
c.299A>G (p.Lys100Arg)
c.756A>G (p.Ter252=)
n.870A>G
c.74A>G (p.Lys25Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.101413046T>GCA347974541RFX8c.926A>C (p.Lys309Thr)
c.587A>C (p.Lys196Thr)
c.800A>C (p.Lys267Thr)
c.713A>C (p.Lys238Thr)
c.*303A>C (n.*303A>C)
c.815A>C (p.Lys272Thr)
c.497A>C (p.Lys166Thr)
c.299A>C (p.Lys100Thr)
c.756A>C (p.Ter252Tyr)
n.870A>C
c.74A>C (p.Lys25Thr)
2g.101413046T=CA1274778623RFX8c.926A= (p.Lys309=)
c.587A= (p.Lys196=)
c.800A= (p.Lys267=)
c.713A= (p.Lys238=)
c.*303A= (n.*303A=)
c.815A= (p.Lys272=)
c.497A= (p.Lys166=)
c.299A= (p.Lys100=)
c.756A= (p.Ter252=)
n.870A=
c.74A= (p.Lys25=)
2g.101413047T>ACA347974542RFX8c.925A>T (p.Lys309Ter)
c.586A>T (p.Lys196Ter)
c.799A>T (p.Lys267Ter)
c.712A>T (p.Lys238Ter)
c.*302A>T (n.*302A>T)
c.814A>T (p.Lys272Ter)
c.496A>T (p.Lys166Ter)
c.298A>T (p.Lys100Ter)
c.755A>T (p.Ter252Leu)
n.869A>T
c.73A>T (p.Lys25Ter)
2g.101413047T>CCA347974543RFX8c.925A>G (p.Lys309Glu)
c.586A>G (p.Lys196Glu)
c.799A>G (p.Lys267Glu)
c.712A>G (p.Lys238Glu)
c.*302A>G (n.*302A>G)
c.814A>G (p.Lys272Glu)
c.496A>G (p.Lys166Glu)
c.298A>G (p.Lys100Glu)
c.755A>G (p.Ter252=)
n.869A>G
c.73A>G (p.Lys25Glu)
2g.101413047T>GCA347974544RFX8c.925A>C (p.Lys309Gln)
c.586A>C (p.Lys196Gln)
c.799A>C (p.Lys267Gln)
c.712A>C (p.Lys238Gln)
c.*302A>C (n.*302A>C)
c.814A>C (p.Lys272Gln)
c.496A>C (p.Lys166Gln)
c.298A>C (p.Lys100Gln)
c.755A>C (p.Ter252Ser)
n.869A>C
c.73A>C (p.Lys25Gln)
2g.101413048A>CCA347974545RFX8c.924T>G (p.Ser308Arg)
c.585T>G (p.Ser195Arg)
c.798T>G (p.Ser266Arg)
c.711T>G (p.Ser237Arg)
c.*301T>G (n.*301T>G)
c.813T>G (p.Ser271Arg)
c.495T>G (p.Ser165Arg)
c.297T>G (p.Ser99Arg)
c.754T>G (p.Ter252Glu)
n.868T>G
c.72T>G (p.Ser24Arg)
2g.101413048A>GCA427793829RFX8c.924T>C (p.Ser308=)
c.585T>C (p.Ser195=)
c.798T>C (p.Ser266=)
c.711T>C (p.Ser237=)
c.*301T>C (n.*301T>C)
c.813T>C (p.Ser271=)
c.495T>C (p.Ser165=)
c.297T>C (p.Ser99=)
c.754T>C (p.Ter252Gln)
n.868T>C
c.72T>C (p.Ser24=)
2g.101413048A>TCA347974546RFX8c.924T>A (p.Ser308Arg)
c.585T>A (p.Ser195Arg)
c.798T>A (p.Ser266Arg)
c.711T>A (p.Ser237Arg)
c.*301T>A (n.*301T>A)
c.813T>A (p.Ser271Arg)
c.495T>A (p.Ser165Arg)
c.297T>A (p.Ser99Arg)
c.754T>A (p.Ter252Lys)
n.868T>A
c.72T>A (p.Ser24Arg)
2g.101413049C>ACA347974547RFX8c.923G>T (p.Ser308Ile)
c.584G>T (p.Ser195Ile)
c.797G>T (p.Ser266Ile)
c.710G>T (p.Ser237Ile)
c.*300G>T (n.*300G>T)
c.812G>T (p.Ser271Ile)
c.494G>T (p.Ser165Ile)
c.296G>T (p.Ser99Ile)
c.753G>T (p.Lys251Asn)
n.867G>T
c.71G>T (p.Ser24Ile)
 gnomAD v4
2g.101413049C=CA1274778624RFX8c.923G= (p.Ser308=)
c.584G= (p.Ser195=)
c.797G= (p.Ser266=)
c.710G= (p.Ser237=)
c.*300G= (n.*300G=)
c.812G= (p.Ser271=)
c.494G= (p.Ser165=)
c.296G= (p.Ser99=)
c.753G= (p.Lys251=)
n.867G=
c.71G= (p.Ser24=)
2g.101413049C>GCA1806434RFX8c.923G>C (p.Ser308Thr)
c.584G>C (p.Ser195Thr)
c.797G>C (p.Ser266Thr)
c.710G>C (p.Ser237Thr)
c.*300G>C (n.*300G>C)
c.812G>C (p.Ser271Thr)
c.494G>C (p.Ser165Thr)
c.296G>C (p.Ser99Thr)
c.753G>C (p.Lys251Asn)
n.867G>C
c.71G>C (p.Ser24Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.101413049C>TCA347974548RFX8c.923G>A (p.Ser308Asn)
c.584G>A (p.Ser195Asn)
c.797G>A (p.Ser266Asn)
c.710G>A (p.Ser237Asn)
c.*300G>A (n.*300G>A)
c.812G>A (p.Ser271Asn)
c.494G>A (p.Ser165Asn)
c.296G>A (p.Ser99Asn)
c.753G>A (p.Lys251=)
n.867G>A
c.71G>A (p.Ser24Asn)
2g.101413050T>ACA347974551RFX8c.922A>T (p.Ser308Cys)
c.583A>T (p.Ser195Cys)
c.796A>T (p.Ser266Cys)
c.709A>T (p.Ser237Cys)
c.*299A>T (n.*299A>T)
c.811A>T (p.Ser271Cys)
c.493A>T (p.Ser165Cys)
c.295A>T (p.Ser99Cys)
c.752A>T (p.Lys251Met)
n.866A>T
c.70A>T (p.Ser24Cys)
2g.101413050T>CCA347974550RFX8c.922A>G (p.Ser308Gly)
c.583A>G (p.Ser195Gly)
c.796A>G (p.Ser266Gly)
c.709A>G (p.Ser237Gly)
c.*299A>G (n.*299A>G)
c.811A>G (p.Ser271Gly)
c.493A>G (p.Ser165Gly)
c.295A>G (p.Ser99Gly)
c.752A>G (p.Lys251Arg)
n.866A>G
c.70A>G (p.Ser24Gly)
2g.101413050T>GCA347974549RFX8c.922A>C (p.Ser308Arg)
c.583A>C (p.Ser195Arg)
c.796A>C (p.Ser266Arg)
c.709A>C (p.Ser237Arg)
c.*299A>C (n.*299A>C)
c.811A>C (p.Ser271Arg)
c.493A>C (p.Ser165Arg)
c.295A>C (p.Ser99Arg)
c.752A>C (p.Lys251Thr)
n.866A>C
c.70A>C (p.Ser24Arg)
2g.101413051T>ACA347974552RFX8c.921A>T (p.Lys307Asn)
c.582A>T (p.Lys194Asn)
c.795A>T (p.Lys265Asn)
c.708A>T (p.Lys236Asn)
c.*298A>T (n.*298A>T)
c.810A>T (p.Lys270Asn)
c.492A>T (p.Lys164Asn)
c.294A>T (p.Lys98Asn)
c.751A>T (p.Lys251Ter)
n.865A>T
c.69A>T (p.Lys23Asn)
2g.101413051T>CCA427793850RFX8c.921A>G (p.Lys307=)
c.582A>G (p.Lys194=)
c.795A>G (p.Lys265=)
c.708A>G (p.Lys236=)
c.*298A>G (n.*298A>G)
c.810A>G (p.Lys270=)
c.492A>G (p.Lys164=)
c.294A>G (p.Lys98=)
c.751A>G (p.Lys251Glu)
n.865A>G
c.69A>G (p.Lys23=)
2g.101413051T>GCA347974553RFX8c.921A>C (p.Lys307Asn)
c.582A>C (p.Lys194Asn)
c.795A>C (p.Lys265Asn)
c.708A>C (p.Lys236Asn)
c.*298A>C (n.*298A>C)
c.810A>C (p.Lys270Asn)
c.492A>C (p.Lys164Asn)
c.294A>C (p.Lys98Asn)
c.751A>C (p.Lys251Gln)
n.865A>C
c.69A>C (p.Lys23Asn)
2g.101413052T>ACA347974554RFX8c.920A>T (p.Lys307Ile)
c.581A>T (p.Lys194Ile)
c.794A>T (p.Lys265Ile)
c.707A>T (p.Lys236Ile)
c.*297A>T (n.*297A>T)
c.809A>T (p.Lys270Ile)
c.491A>T (p.Lys164Ile)
c.293A>T (p.Lys98Ile)
c.750A>T (p.Glu250Asp)
n.864A>T
c.68A>T (p.Lys23Ile)
2g.101413052T>CCA347974555RFX8c.920A>G (p.Lys307Arg)
c.581A>G (p.Lys194Arg)
c.794A>G (p.Lys265Arg)
c.707A>G (p.Lys236Arg)
c.*297A>G (n.*297A>G)
c.809A>G (p.Lys270Arg)
c.491A>G (p.Lys164Arg)
c.293A>G (p.Lys98Arg)
c.750A>G (p.Glu250=)
n.864A>G
c.68A>G (p.Lys23Arg)
2g.101413052T>GCA347974556RFX8c.920A>C (p.Lys307Thr)
c.581A>C (p.Lys194Thr)
c.794A>C (p.Lys265Thr)
c.707A>C (p.Lys236Thr)
c.*297A>C (n.*297A>C)
c.809A>C (p.Lys270Thr)
c.491A>C (p.Lys164Thr)
c.293A>C (p.Lys98Thr)
c.750A>C (p.Glu250Asp)
n.864A>C
c.68A>C (p.Lys23Thr)
2g.101413053T>ACA347974557RFX8c.919A>T (p.Lys307Ter)
c.580A>T (p.Lys194Ter)
c.793A>T (p.Lys265Ter)
c.706A>T (p.Lys236Ter)
c.*296A>T (n.*296A>T)
c.808A>T (p.Lys270Ter)
c.490A>T (p.Lys164Ter)
c.292A>T (p.Lys98Ter)
c.749A>T (p.Glu250Val)
n.863A>T
c.67A>T (p.Lys23Ter)
2g.101413053T>CCA347974558RFX8c.919A>G (p.Lys307Glu)
c.580A>G (p.Lys194Glu)
c.793A>G (p.Lys265Glu)
c.706A>G (p.Lys236Glu)
c.*296A>G (n.*296A>G)
c.808A>G (p.Lys270Glu)
c.490A>G (p.Lys164Glu)
c.292A>G (p.Lys98Glu)
c.749A>G (p.Glu250Gly)
n.863A>G
c.67A>G (p.Lys23Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.101413053T>GCA347974559RFX8c.919A>C (p.Lys307Gln)
c.580A>C (p.Lys194Gln)
c.793A>C (p.Lys265Gln)
c.706A>C (p.Lys236Gln)
c.*296A>C (n.*296A>C)
c.808A>C (p.Lys270Gln)
c.490A>C (p.Lys164Gln)
c.292A>C (p.Lys98Gln)
c.749A>C (p.Glu250Ala)
n.863A>C
c.67A>C (p.Lys23Gln)
2g.101413053T=CA1274778625RFX8c.919A= (p.Lys307=)
c.580A= (p.Lys194=)
c.793A= (p.Lys265=)
c.706A= (p.Lys236=)
c.*296A= (n.*296A=)
c.808A= (p.Lys270=)
c.490A= (p.Lys164=)
c.292A= (p.Lys98=)
c.749A= (p.Glu250=)
n.863A=
c.67A= (p.Lys23=)
2g.101413054C>ACA347974560RFX8c.918G>T (p.Leu306Phe)
c.579G>T (p.Leu193Phe)
c.792G>T (p.Leu264Phe)
c.705G>T (p.Leu235Phe)
c.*295G>T (n.*295G>T)
c.807G>T (p.Leu269Phe)
c.489G>T (p.Leu163Phe)
c.291G>T (p.Leu97Phe)
c.748G>T (p.Glu250Ter)
n.862G>T
c.66G>T (p.Leu22Phe)
2g.101413054C>GCA347974561RFX8c.918G>C (p.Leu306Phe)
c.579G>C (p.Leu193Phe)
c.792G>C (p.Leu264Phe)
c.705G>C (p.Leu235Phe)
c.*295G>C (n.*295G>C)
c.807G>C (p.Leu269Phe)
c.489G>C (p.Leu163Phe)
c.291G>C (p.Leu97Phe)
c.748G>C (p.Glu250Gln)
n.862G>C
c.66G>C (p.Leu22Phe)
2g.101413054C>TCA427793866RFX8c.918G>A (p.Leu306=)
c.579G>A (p.Leu193=)
c.792G>A (p.Leu264=)
c.705G>A (p.Leu235=)
c.*295G>A (n.*295G>A)
c.807G>A (p.Leu269=)
c.489G>A (p.Leu163=)
c.291G>A (p.Leu97=)
c.748G>A (p.Glu250Lys)
n.862G>A
c.66G>A (p.Leu22=)

Number of alleles fetched