Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.101412915_101412921dup	CA2660437694	RFX8	c.1051_1057dup (p.Cys353TyrfsTer?) c.712_718dup (p.Cys240TyrfsTer?) c.925_931dup (p.Cys311TyrfsTer?) c.838_844dup (p.Cys282TyrfsTer?) c.428_434dup (n.428_434dup) c.940_946dup (p.Cys316TyrfsTer?) c.622_628dup (p.Cys210TyrfsTer?) c.424_430dup (p.Cys144TyrfsTer?) n.995_1001dup c.199_205dup (p.Cys69TyrfsTer?)	gnomAD v4
2	g.101412919C>A	CA347974260	RFX8	c.1053G>T (p.Met351Ile) c.714G>T (p.Met238Ile) c.927G>T (p.Met309Ile) c.840G>T (p.Met280Ile) c.430G>T (n.430G>T) c.942G>T (p.Met314Ile) c.624G>T (p.Met208Ile) c.426G>T (p.Met142Ile) n.997G>T c.201G>T (p.Met67Ile)	gnomAD v4
2	g.101412919C>G	CA347974261	RFX8	c.1053G>C (p.Met351Ile) c.714G>C (p.Met238Ile) c.927G>C (p.Met309Ile) c.840G>C (p.Met280Ile) c.430G>C (n.430G>C) c.942G>C (p.Met314Ile) c.624G>C (p.Met208Ile) c.426G>C (p.Met142Ile) n.997G>C c.201G>C (p.Met67Ile)
2	g.101412919C>T	CA347974262	RFX8	c.1053G>A (p.Met351Ile) c.714G>A (p.Met238Ile) c.927G>A (p.Met309Ile) c.840G>A (p.Met280Ile) c.430G>A (n.430G>A) c.942G>A (p.Met314Ile) c.624G>A (p.Met208Ile) c.426G>A (p.Met142Ile) n.997G>A c.201G>A (p.Met67Ile)
2	g.101412920A>C	CA347974263	RFX8	c.1052T>G (p.Met351Arg) c.713T>G (p.Met238Arg) c.926T>G (p.Met309Arg) c.839T>G (p.Met280Arg) c.429T>G (n.429T>G) c.941T>G (p.Met314Arg) c.623T>G (p.Met208Arg) c.425T>G (p.Met142Arg) n.996T>G c.200T>G (p.Met67Arg)
2	g.101412920A>G	CA347974264	RFX8	c.1052T>C (p.Met351Thr) c.713T>C (p.Met238Thr) c.926T>C (p.Met309Thr) c.839T>C (p.Met280Thr) c.429T>C (n.429T>C) c.941T>C (p.Met314Thr) c.623T>C (p.Met208Thr) c.425T>C (p.Met142Thr) n.996T>C c.200T>C (p.Met67Thr)
2	g.101412920A>T	CA347974265	RFX8	c.1052T>A (p.Met351Lys) c.713T>A (p.Met238Lys) c.926T>A (p.Met309Lys) c.839T>A (p.Met280Lys) c.429T>A (n.429T>A) c.941T>A (p.Met314Lys) c.623T>A (p.Met208Lys) c.425T>A (p.Met142Lys) n.996T>A c.200T>A (p.Met67Lys)
2	g.101412921T>A	CA347974267	RFX8	c.1051A>T (p.Met351Leu) c.712A>T (p.Met238Leu) c.925A>T (p.Met309Leu) c.838A>T (p.Met280Leu) c.428A>T (n.428A>T) c.940A>T (p.Met314Leu) c.622A>T (p.Met208Leu) c.424A>T (p.Met142Leu) n.995A>T c.199A>T (p.Met67Leu)
2	g.101412921T>C	CA347974268	RFX8	c.1051A>G (p.Met351Val) c.712A>G (p.Met238Val) c.925A>G (p.Met309Val) c.838A>G (p.Met280Val) c.428A>G (n.428A>G) c.940A>G (p.Met314Val) c.622A>G (p.Met208Val) c.424A>G (p.Met142Val) n.995A>G c.199A>G (p.Met67Val)	gnomAD v4
2	g.101412921T>G	CA347974266	RFX8	c.1051A>C (p.Met351Leu) c.712A>C (p.Met238Leu) c.925A>C (p.Met309Leu) c.838A>C (p.Met280Leu) c.428A>C (n.428A>C) c.940A>C (p.Met314Leu) c.622A>C (p.Met208Leu) c.424A>C (p.Met142Leu) n.995A>C c.199A>C (p.Met67Leu)
2	g.101412922C>A	CA347974269	RFX8	c.1050G>T (p.Glu350Asp) c.711G>T (p.Glu237Asp) c.924G>T (p.Glu308Asp) c.837G>T (p.Glu279Asp) c.427G>T (n.427G>T) c.939G>T (p.Glu313Asp) c.621G>T (p.Glu207Asp) c.423G>T (p.Glu141Asp) n.994G>T c.198G>T (p.Glu66Asp)
2	g.101412922C=	CA1274778568	RFX8	c.1050G= (p.Glu350=) c.711G= (p.Glu237=) c.924G= (p.Glu308=) c.837G= (p.Glu279=) c.427G= (n.427G=) c.939G= (p.Glu313=) c.621G= (p.Glu207=) c.423G= (p.Glu141=) n.994G= c.198G= (p.Glu66=)
2	g.101412922C>G	CA347974270	RFX8	c.1050G>C (p.Glu350Asp) c.711G>C (p.Glu237Asp) c.924G>C (p.Glu308Asp) c.837G>C (p.Glu279Asp) c.427G>C (n.427G>C) c.939G>C (p.Glu313Asp) c.621G>C (p.Glu207Asp) c.423G>C (p.Glu141Asp) n.994G>C c.198G>C (p.Glu66Asp)
2	g.101412922C>T	CA427793050	RFX8	c.1050G>A (p.Glu350=) c.711G>A (p.Glu237=) c.924G>A (p.Glu308=) c.837G>A (p.Glu279=) c.427G>A (n.427G>A) c.939G>A (p.Glu313=) c.621G>A (p.Glu207=) c.423G>A (p.Glu141=) n.994G>A c.198G>A (p.Glu66=)	dbSNP gnomAD v4
2	g.101412923T>A	CA347974271	RFX8	c.1049A>T (p.Glu350Val) c.710A>T (p.Glu237Val) c.923A>T (p.Glu308Val) c.836A>T (p.Glu279Val) c.426A>T (n.426A>T) c.938A>T (p.Glu313Val) c.620A>T (p.Glu207Val) c.422A>T (p.Glu141Val) n.993A>T c.197A>T (p.Glu66Val)
2	g.101412923T>C	CA347974272	RFX8	c.1049A>G (p.Glu350Gly) c.710A>G (p.Glu237Gly) c.923A>G (p.Glu308Gly) c.836A>G (p.Glu279Gly) c.426A>G (n.426A>G) c.938A>G (p.Glu313Gly) c.620A>G (p.Glu207Gly) c.422A>G (p.Glu141Gly) n.993A>G c.197A>G (p.Glu66Gly)
2	g.101412923T>G	CA347974273	RFX8	c.1049A>C (p.Glu350Ala) c.710A>C (p.Glu237Ala) c.923A>C (p.Glu308Ala) c.836A>C (p.Glu279Ala) c.426A>C (n.426A>C) c.938A>C (p.Glu313Ala) c.620A>C (p.Glu207Ala) c.422A>C (p.Glu141Ala) n.993A>C c.197A>C (p.Glu66Ala)
2	g.101412924C>A	CA347974276	RFX8	c.1048G>T (p.Glu350Ter) c.709G>T (p.Glu237Ter) c.922G>T (p.Glu308Ter) c.835G>T (p.Glu279Ter) c.425G>T (n.425G>T) c.937G>T (p.Glu313Ter) c.619G>T (p.Glu207Ter) c.421G>T (p.Glu141Ter) n.992G>T c.196G>T (p.Glu66Ter)
2	g.101412924C>G	CA347974274	RFX8	c.1048G>C (p.Glu350Gln) c.709G>C (p.Glu237Gln) c.922G>C (p.Glu308Gln) c.835G>C (p.Glu279Gln) c.425G>C (n.425G>C) c.937G>C (p.Glu313Gln) c.619G>C (p.Glu207Gln) c.421G>C (p.Glu141Gln) n.992G>C c.196G>C (p.Glu66Gln)
2	g.101412924C>T	CA347974275	RFX8	c.1048G>A (p.Glu350Lys) c.709G>A (p.Glu237Lys) c.922G>A (p.Glu308Lys) c.835G>A (p.Glu279Lys) c.425G>A (n.425G>A) c.937G>A (p.Glu313Lys) c.619G>A (p.Glu207Lys) c.421G>A (p.Glu141Lys) n.992G>A c.196G>A (p.Glu66Lys)
2	g.101412925T>A	CA427793065	RFX8	c.1047A>T (p.Pro349=) c.708A>T (p.Pro236=) c.921A>T (p.Pro307=) c.834A>T (p.Pro278=) c.424A>T (n.424A>T) c.936A>T (p.Pro312=) c.618A>T (p.Pro206=) c.420A>T (p.Pro140=) n.991A>T c.195A>T (p.Pro65=)
2	g.101412925T>C	CA427793061	RFX8	c.1047A>G (p.Pro349=) c.708A>G (p.Pro236=) c.921A>G (p.Pro307=) c.834A>G (p.Pro278=) c.424A>G (n.424A>G) c.936A>G (p.Pro312=) c.618A>G (p.Pro206=) c.420A>G (p.Pro140=) n.991A>G c.195A>G (p.Pro65=)	gnomAD v4
2	g.101412925T>G	CA427793063	RFX8	c.1047A>C (p.Pro349=) c.708A>C (p.Pro236=) c.921A>C (p.Pro307=) c.834A>C (p.Pro278=) c.424A>C (n.424A>C) c.936A>C (p.Pro312=) c.618A>C (p.Pro206=) c.420A>C (p.Pro140=) n.991A>C c.195A>C (p.Pro65=)
2	g.101412926G>A	CA347974277	RFX8	c.1046C>T (p.Pro349Leu) c.707C>T (p.Pro236Leu) c.920C>T (p.Pro307Leu) c.833C>T (p.Pro278Leu) c.423C>T (n.423C>T) c.935C>T (p.Pro312Leu) c.617C>T (p.Pro206Leu) c.419C>T (p.Pro140Leu) n.990C>T c.194C>T (p.Pro65Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.101412926G>C	CA347974278	RFX8	c.1046C>G (p.Pro349Arg) c.707C>G (p.Pro236Arg) c.920C>G (p.Pro307Arg) c.833C>G (p.Pro278Arg) c.423C>G (n.423C>G) c.935C>G (p.Pro312Arg) c.617C>G (p.Pro206Arg) c.419C>G (p.Pro140Arg) n.990C>G c.194C>G (p.Pro65Arg)	gnomAD v4
2	g.101412926G=	CA1274778569	RFX8	c.1046C= (p.Pro349=) c.707C= (p.Pro236=) c.920C= (p.Pro307=) c.833C= (p.Pro278=) c.423C= (n.423C=) c.935C= (p.Pro312=) c.617C= (p.Pro206=) c.419C= (p.Pro140=) n.990C= c.194C= (p.Pro65=)
2	g.101412926G>T	CA347974279	RFX8	c.1046C>A (p.Pro349Gln) c.707C>A (p.Pro236Gln) c.920C>A (p.Pro307Gln) c.833C>A (p.Pro278Gln) c.423C>A (n.423C>A) c.935C>A (p.Pro312Gln) c.617C>A (p.Pro206Gln) c.419C>A (p.Pro140Gln) n.990C>A c.194C>A (p.Pro65Gln)	dbSNP gnomAD v4
2	g.101412927G>A	CA347974280	RFX8	c.1045C>T (p.Pro349Ser) c.706C>T (p.Pro236Ser) c.919C>T (p.Pro307Ser) c.832C>T (p.Pro278Ser) c.422C>T (n.422C>T) c.934C>T (p.Pro312Ser) c.616C>T (p.Pro206Ser) c.418C>T (p.Pro140Ser) n.989C>T c.193C>T (p.Pro65Ser)	dbSNP gnomAD v4
2	g.101412927G>C	CA347974281	RFX8	c.1045C>G (p.Pro349Ala) c.706C>G (p.Pro236Ala) c.919C>G (p.Pro307Ala) c.832C>G (p.Pro278Ala) c.422C>G (n.422C>G) c.934C>G (p.Pro312Ala) c.616C>G (p.Pro206Ala) c.418C>G (p.Pro140Ala) n.989C>G c.193C>G (p.Pro65Ala)	gnomAD v4
2	g.101412927G=	CA1274778570	RFX8	c.1045C= (p.Pro349=) c.706C= (p.Pro236=) c.919C= (p.Pro307=) c.832C= (p.Pro278=) c.422C= (n.422C=) c.934C= (p.Pro312=) c.616C= (p.Pro206=) c.418C= (p.Pro140=) n.989C= c.193C= (p.Pro65=)
2	g.101412927G>T	CA347974282	RFX8	c.1045C>A (p.Pro349Thr) c.706C>A (p.Pro236Thr) c.919C>A (p.Pro307Thr) c.832C>A (p.Pro278Thr) c.422C>A (n.422C>A) c.934C>A (p.Pro312Thr) c.616C>A (p.Pro206Thr) c.418C>A (p.Pro140Thr) n.989C>A c.193C>A (p.Pro65Thr)	gnomAD v4
2	g.101412928G>A	CA427793076	RFX8	c.1044C>T (p.Asn348=) c.705C>T (p.Asn235=) c.918C>T (p.Asn306=) c.831C>T (p.Asn277=) c.421C>T (n.421C>T) c.933C>T (p.Asn311=) c.615C>T (p.Asn205=) c.417C>T (p.Asn139=) n.988C>T c.192C>T (p.Asn64=)
2	g.101412928G>C	CA347974283	RFX8	c.1044C>G (p.Asn348Lys) c.705C>G (p.Asn235Lys) c.918C>G (p.Asn306Lys) c.831C>G (p.Asn277Lys) c.421C>G (n.421C>G) c.933C>G (p.Asn311Lys) c.615C>G (p.Asn205Lys) c.417C>G (p.Asn139Lys) n.988C>G c.192C>G (p.Asn64Lys)
2	g.101412928G>T	CA347974284	RFX8	c.1044C>A (p.Asn348Lys) c.705C>A (p.Asn235Lys) c.918C>A (p.Asn306Lys) c.831C>A (p.Asn277Lys) c.421C>A (n.421C>A) c.933C>A (p.Asn311Lys) c.615C>A (p.Asn205Lys) c.417C>A (p.Asn139Lys) n.988C>A c.192C>A (p.Asn64Lys)
2	g.101412929T>A	CA347974285	RFX8	c.1043A>T (p.Asn348Ile) c.704A>T (p.Asn235Ile) c.917A>T (p.Asn306Ile) c.830A>T (p.Asn277Ile) c.420A>T (n.420A>T) c.932A>T (p.Asn311Ile) c.614A>T (p.Asn205Ile) c.416A>T (p.Asn139Ile) n.987A>T c.191A>T (p.Asn64Ile)
2	g.101412929T>C	CA347974287	RFX8	c.1043A>G (p.Asn348Ser) c.704A>G (p.Asn235Ser) c.917A>G (p.Asn306Ser) c.830A>G (p.Asn277Ser) c.420A>G (n.420A>G) c.932A>G (p.Asn311Ser) c.614A>G (p.Asn205Ser) c.416A>G (p.Asn139Ser) n.987A>G c.191A>G (p.Asn64Ser)
2	g.101412929T>G	CA347974286	RFX8	c.1043A>C (p.Asn348Thr) c.704A>C (p.Asn235Thr) c.917A>C (p.Asn306Thr) c.830A>C (p.Asn277Thr) c.420A>C (n.420A>C) c.932A>C (p.Asn311Thr) c.614A>C (p.Asn205Thr) c.416A>C (p.Asn139Thr) n.987A>C c.191A>C (p.Asn64Thr)	dbSNP
2	g.101412929T=	CA1274778571	RFX8	c.1043A= (p.Asn348=) c.704A= (p.Asn235=) c.917A= (p.Asn306=) c.830A= (p.Asn277=) c.420A= (n.420A=) c.932A= (p.Asn311=) c.614A= (p.Asn205=) c.416A= (p.Asn139=) n.987A= c.191A= (p.Asn64=)
2	g.101412930T>A	CA347974288	RFX8	c.1042A>T (p.Asn348Tyr) c.703A>T (p.Asn235Tyr) c.916A>T (p.Asn306Tyr) c.829A>T (p.Asn277Tyr) c.419A>T (n.419A>T) c.931A>T (p.Asn311Tyr) c.613A>T (p.Asn205Tyr) c.415A>T (p.Asn139Tyr) n.986A>T c.190A>T (p.Asn64Tyr)
2	g.101412930T>C	CA347974289	RFX8	c.1042A>G (p.Asn348Asp) c.703A>G (p.Asn235Asp) c.916A>G (p.Asn306Asp) c.829A>G (p.Asn277Asp) c.419A>G (n.419A>G) c.931A>G (p.Asn311Asp) c.613A>G (p.Asn205Asp) c.415A>G (p.Asn139Asp) n.986A>G c.190A>G (p.Asn64Asp)
2	g.101412930T>G	CA347974290	RFX8	c.1042A>C (p.Asn348His) c.703A>C (p.Asn235His) c.916A>C (p.Asn306His) c.829A>C (p.Asn277His) c.419A>C (n.419A>C) c.931A>C (p.Asn311His) c.613A>C (p.Asn205His) c.415A>C (p.Asn139His) n.986A>C c.190A>C (p.Asn64His)
2	g.101412931G>A	CA427793090	RFX8	c.1041C>T (p.Asn347=) c.702C>T (p.Asn234=) c.915C>T (p.Asn305=) c.828C>T (p.Asn276=) c.418C>T (n.418C>T) c.930C>T (p.Asn310=) c.612C>T (p.Asn204=) c.414C>T (p.Asn138=) n.985C>T c.189C>T (p.Asn63=)	dbSNP
2	g.101412931G>C	CA347974291	RFX8	c.1041C>G (p.Asn347Lys) c.702C>G (p.Asn234Lys) c.915C>G (p.Asn305Lys) c.828C>G (p.Asn276Lys) c.418C>G (n.418C>G) c.930C>G (p.Asn310Lys) c.612C>G (p.Asn204Lys) c.414C>G (p.Asn138Lys) n.985C>G c.189C>G (p.Asn63Lys)
2	g.101412931G=	CA1274778572	RFX8	c.1041C= (p.Asn347=) c.702C= (p.Asn234=) c.915C= (p.Asn305=) c.828C= (p.Asn276=) c.418C= (n.418C=) c.930C= (p.Asn310=) c.612C= (p.Asn204=) c.414C= (p.Asn138=) n.985C= c.189C= (p.Asn63=)
2	g.101412931G>T	CA347974292	RFX8	c.1041C>A (p.Asn347Lys) c.702C>A (p.Asn234Lys) c.915C>A (p.Asn305Lys) c.828C>A (p.Asn276Lys) c.418C>A (n.418C>A) c.930C>A (p.Asn310Lys) c.612C>A (p.Asn204Lys) c.414C>A (p.Asn138Lys) n.985C>A c.189C>A (p.Asn63Lys)	dbSNP gnomAD v3 gnomAD v4
2	g.101412932T>A	CA347974293	RFX8	c.1040A>T (p.Asn347Ile) c.701A>T (p.Asn234Ile) c.914A>T (p.Asn305Ile) c.827A>T (p.Asn276Ile) c.417A>T (n.417A>T) c.929A>T (p.Asn310Ile) c.611A>T (p.Asn204Ile) c.413A>T (p.Asn138Ile) n.984A>T c.188A>T (p.Asn63Ile)
2	g.101412932T>C	CA347974294	RFX8	c.1040A>G (p.Asn347Ser) c.701A>G (p.Asn234Ser) c.914A>G (p.Asn305Ser) c.827A>G (p.Asn276Ser) c.417A>G (n.417A>G) c.929A>G (p.Asn310Ser) c.611A>G (p.Asn204Ser) c.413A>G (p.Asn138Ser) n.984A>G c.188A>G (p.Asn63Ser)
2	g.101412932T>G	CA347974295	RFX8	c.1040A>C (p.Asn347Thr) c.701A>C (p.Asn234Thr) c.914A>C (p.Asn305Thr) c.827A>C (p.Asn276Thr) c.417A>C (n.417A>C) c.929A>C (p.Asn310Thr) c.611A>C (p.Asn204Thr) c.413A>C (p.Asn138Thr) n.984A>C c.188A>C (p.Asn63Thr)
2	g.101412933T>A	CA347974296	RFX8	c.1039A>T (p.Asn347Tyr) c.700A>T (p.Asn234Tyr) c.913A>T (p.Asn305Tyr) c.826A>T (p.Asn276Tyr) c.416A>T (n.416A>T) c.928A>T (p.Asn310Tyr) c.610A>T (p.Asn204Tyr) c.412A>T (p.Asn138Tyr) n.983A>T c.187A>T (p.Asn63Tyr)
2	g.101412933T>C	CA347974297	RFX8	c.1039A>G (p.Asn347Asp) c.700A>G (p.Asn234Asp) c.913A>G (p.Asn305Asp) c.826A>G (p.Asn276Asp) c.416A>G (n.416A>G) c.928A>G (p.Asn310Asp) c.610A>G (p.Asn204Asp) c.412A>G (p.Asn138Asp) n.983A>G c.187A>G (p.Asn63Asp)
2	g.101412933T>G	CA347974298	RFX8	c.1039A>C (p.Asn347His) c.700A>C (p.Asn234His) c.913A>C (p.Asn305His) c.826A>C (p.Asn276His) c.416A>C (n.416A>C) c.928A>C (p.Asn310His) c.610A>C (p.Asn204His) c.412A>C (p.Asn138His) n.983A>C c.187A>C (p.Asn63His)
2	g.101412934C>A	CA347974299	RFX8	c.1038G>T (p.Glu346Asp) c.699G>T (p.Glu233Asp) c.912G>T (p.Glu304Asp) c.825G>T (p.Glu275Asp) c.415G>T (n.415G>T) c.927G>T (p.Glu309Asp) c.609G>T (p.Glu203Asp) c.411G>T (p.Glu137Asp) n.982G>T c.186G>T (p.Glu62Asp)
2	g.101412934C>G	CA347974300	RFX8	c.1038G>C (p.Glu346Asp) c.699G>C (p.Glu233Asp) c.912G>C (p.Glu304Asp) c.825G>C (p.Glu275Asp) c.415G>C (n.415G>C) c.927G>C (p.Glu309Asp) c.609G>C (p.Glu203Asp) c.411G>C (p.Glu137Asp) n.982G>C c.186G>C (p.Glu62Asp)
2	g.101412934C>T	CA427793104	RFX8	c.1038G>A (p.Glu346=) c.699G>A (p.Glu233=) c.912G>A (p.Glu304=) c.825G>A (p.Glu275=) c.415G>A (n.415G>A) c.927G>A (p.Glu309=) c.609G>A (p.Glu203=) c.411G>A (p.Glu137=) n.982G>A c.186G>A (p.Glu62=)
2	g.101412935T>A	CA347974303	RFX8	c.1037A>T (p.Glu346Val) c.698A>T (p.Glu233Val) c.911A>T (p.Glu304Val) c.824A>T (p.Glu275Val) c.414A>T (n.414A>T) c.926A>T (p.Glu309Val) c.608A>T (p.Glu203Val) c.410A>T (p.Glu137Val) n.981A>T c.185A>T (p.Glu62Val)
2	g.101412935T>C	CA347974302	RFX8	c.1037A>G (p.Glu346Gly) c.698A>G (p.Glu233Gly) c.911A>G (p.Glu304Gly) c.824A>G (p.Glu275Gly) c.414A>G (n.414A>G) c.926A>G (p.Glu309Gly) c.608A>G (p.Glu203Gly) c.410A>G (p.Glu137Gly) n.981A>G c.185A>G (p.Glu62Gly)
2	g.101412935T>G	CA347974301	RFX8	c.1037A>C (p.Glu346Ala) c.698A>C (p.Glu233Ala) c.911A>C (p.Glu304Ala) c.824A>C (p.Glu275Ala) c.414A>C (n.414A>C) c.926A>C (p.Glu309Ala) c.608A>C (p.Glu203Ala) c.410A>C (p.Glu137Ala) n.981A>C c.185A>C (p.Glu62Ala)
2	g.101412936C>A	CA347974304	RFX8	c.1036G>T (p.Glu346Ter) c.697G>T (p.Glu233Ter) c.910G>T (p.Glu304Ter) c.823G>T (p.Glu275Ter) c.413G>T (n.413G>T) c.925G>T (p.Glu309Ter) c.607G>T (p.Glu203Ter) c.409G>T (p.Glu137Ter) n.980G>T c.184G>T (p.Glu62Ter)
2	g.101412936C=	CA1274778573	RFX8	c.1036G= (p.Glu346=) c.697G= (p.Glu233=) c.910G= (p.Glu304=) c.823G= (p.Glu275=) c.413G= (n.413G=) c.925G= (p.Glu309=) c.607G= (p.Glu203=) c.409G= (p.Glu137=) n.980G= c.184G= (p.Glu62=)
2	g.101412936C>G	CA347974305	RFX8	c.1036G>C (p.Glu346Gln) c.697G>C (p.Glu233Gln) c.910G>C (p.Glu304Gln) c.823G>C (p.Glu275Gln) c.413G>C (n.413G>C) c.925G>C (p.Glu309Gln) c.607G>C (p.Glu203Gln) c.409G>C (p.Glu137Gln) n.980G>C c.184G>C (p.Glu62Gln)
2	g.101412936C>T	CA53230231	RFX8	c.1036G>A (p.Glu346Lys) c.697G>A (p.Glu233Lys) c.910G>A (p.Glu304Lys) c.823G>A (p.Glu275Lys) c.413G>A (n.413G>A) c.925G>A (p.Glu309Lys) c.607G>A (p.Glu203Lys) c.409G>A (p.Glu137Lys) n.980G>A c.184G>A (p.Glu62Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.101412937C>A	CA427793115	RFX8	c.1035G>T (p.Leu345=) c.696G>T (p.Leu232=) c.909G>T (p.Leu303=) c.822G>T (p.Leu274=) c.412G>T (n.412G>T) c.924G>T (p.Leu308=) c.606G>T (p.Leu202=) c.408G>T (p.Leu136=) n.979G>T c.183G>T (p.Leu61=)
2	g.101412937C>G	CA427793117	RFX8	c.1035G>C (p.Leu345=) c.696G>C (p.Leu232=) c.909G>C (p.Leu303=) c.822G>C (p.Leu274=) c.412G>C (n.412G>C) c.924G>C (p.Leu308=) c.606G>C (p.Leu202=) c.408G>C (p.Leu136=) n.979G>C c.183G>C (p.Leu61=)
2	g.101412937C>T	CA427793118	RFX8	c.1035G>A (p.Leu345=) c.696G>A (p.Leu232=) c.909G>A (p.Leu303=) c.822G>A (p.Leu274=) c.412G>A (n.412G>A) c.924G>A (p.Leu308=) c.606G>A (p.Leu202=) c.408G>A (p.Leu136=) n.979G>A c.183G>A (p.Leu61=)
2	g.101412938A>C	CA347974306	RFX8	c.1034T>G (p.Leu345Arg) c.695T>G (p.Leu232Arg) c.908T>G (p.Leu303Arg) c.821T>G (p.Leu274Arg) c.411T>G (n.411T>G) c.923T>G (p.Leu308Arg) c.605T>G (p.Leu202Arg) c.407T>G (p.Leu136Arg) n.978T>G c.182T>G (p.Leu61Arg)
2	g.101412938A>G	CA347974307	RFX8	c.1034T>C (p.Leu345Pro) c.695T>C (p.Leu232Pro) c.908T>C (p.Leu303Pro) c.821T>C (p.Leu274Pro) c.411T>C (n.411T>C) c.923T>C (p.Leu308Pro) c.605T>C (p.Leu202Pro) c.407T>C (p.Leu136Pro) n.978T>C c.182T>C (p.Leu61Pro)
2	g.101412938A>T	CA347974308	RFX8	c.1034T>A (p.Leu345Gln) c.695T>A (p.Leu232Gln) c.908T>A (p.Leu303Gln) c.821T>A (p.Leu274Gln) c.411T>A (n.411T>A) c.923T>A (p.Leu308Gln) c.605T>A (p.Leu202Gln) c.407T>A (p.Leu136Gln) n.978T>A c.182T>A (p.Leu61Gln)
2	g.101412939G>A	CA427793126	RFX8	c.1033C>T (p.Leu345=) c.694C>T (p.Leu232=) c.907C>T (p.Leu303=) c.820C>T (p.Leu274=) c.410C>T (n.410C>T) c.922C>T (p.Leu308=) c.604C>T (p.Leu202=) c.406C>T (p.Leu136=) n.977C>T c.181C>T (p.Leu61=)
2	g.101412939G>C	CA347974309	RFX8	c.1033C>G (p.Leu345Val) c.694C>G (p.Leu232Val) c.907C>G (p.Leu303Val) c.820C>G (p.Leu274Val) c.410C>G (n.410C>G) c.922C>G (p.Leu308Val) c.604C>G (p.Leu202Val) c.406C>G (p.Leu136Val) n.977C>G c.181C>G (p.Leu61Val)
2	g.101412939G>T	CA347974310	RFX8	c.1033C>A (p.Leu345Met) c.694C>A (p.Leu232Met) c.907C>A (p.Leu303Met) c.820C>A (p.Leu274Met) c.410C>A (n.410C>A) c.922C>A (p.Leu308Met) c.604C>A (p.Leu202Met) c.406C>A (p.Leu136Met) n.977C>A c.181C>A (p.Leu61Met)
2	g.101412940T>A	CA347974311	RFX8	c.1032A>T (p.Glu344Asp) c.693A>T (p.Glu231Asp) c.906A>T (p.Glu302Asp) c.819A>T (p.Glu273Asp) c.409A>T (n.409A>T) c.921A>T (p.Glu307Asp) c.603A>T (p.Glu201Asp) c.405A>T (p.Glu135Asp) n.976A>T c.180A>T (p.Glu60Asp)
2	g.101412940T>C	CA427793132	RFX8	c.1032A>G (p.Glu344=) c.693A>G (p.Glu231=) c.906A>G (p.Glu302=) c.819A>G (p.Glu273=) c.409A>G (n.409A>G) c.921A>G (p.Glu307=) c.603A>G (p.Glu201=) c.405A>G (p.Glu135=) n.976A>G c.180A>G (p.Glu60=)	dbSNP gnomAD v2 gnomAD v4
2	g.101412940T>G	CA347974312	RFX8	c.1032A>C (p.Glu344Asp) c.693A>C (p.Glu231Asp) c.906A>C (p.Glu302Asp) c.819A>C (p.Glu273Asp) c.409A>C (n.409A>C) c.921A>C (p.Glu307Asp) c.603A>C (p.Glu201Asp) c.405A>C (p.Glu135Asp) n.976A>C c.180A>C (p.Glu60Asp)
2	g.101412940T=	CA1274778574	RFX8	c.1032A= (p.Glu344=) c.693A= (p.Glu231=) c.906A= (p.Glu302=) c.819A= (p.Glu273=) c.409A= (n.409A=) c.921A= (p.Glu307=) c.603A= (p.Glu201=) c.405A= (p.Glu135=) n.976A= c.180A= (p.Glu60=)
2	g.101412941T>A	CA347974313	RFX8	c.1031A>T (p.Glu344Val) c.692A>T (p.Glu231Val) c.905A>T (p.Glu302Val) c.818A>T (p.Glu273Val) c.408A>T (n.408A>T) c.920A>T (p.Glu307Val) c.602A>T (p.Glu201Val) c.404A>T (p.Glu135Val) n.975A>T c.179A>T (p.Glu60Val)	dbSNP gnomAD v2
2	g.101412941T>C	CA347974314	RFX8	c.1031A>G (p.Glu344Gly) c.692A>G (p.Glu231Gly) c.905A>G (p.Glu302Gly) c.818A>G (p.Glu273Gly) c.408A>G (n.408A>G) c.920A>G (p.Glu307Gly) c.602A>G (p.Glu201Gly) c.404A>G (p.Glu135Gly) n.975A>G c.179A>G (p.Glu60Gly)
2	g.101412941T>G	CA347974315	RFX8	c.1031A>C (p.Glu344Ala) c.692A>C (p.Glu231Ala) c.905A>C (p.Glu302Ala) c.818A>C (p.Glu273Ala) c.408A>C (n.408A>C) c.920A>C (p.Glu307Ala) c.602A>C (p.Glu201Ala) c.404A>C (p.Glu135Ala) n.975A>C c.179A>C (p.Glu60Ala)
2	g.101412941T=	CA1274778575	RFX8	c.1031A= (p.Glu344=) c.692A= (p.Glu231=) c.905A= (p.Glu302=) c.818A= (p.Glu273=) c.408A= (n.408A=) c.920A= (p.Glu307=) c.602A= (p.Glu201=) c.404A= (p.Glu135=) n.975A= c.179A= (p.Glu60=)
2	g.101412942C>A	CA347974317	RFX8	c.1030G>T (p.Glu344Ter) c.691G>T (p.Glu231Ter) c.904G>T (p.Glu302Ter) c.817G>T (p.Glu273Ter) c.407G>T (n.407G>T) c.919G>T (p.Glu307Ter) c.601G>T (p.Glu201Ter) c.403G>T (p.Glu135Ter) n.974G>T c.178G>T (p.Glu60Ter)
2	g.101412942C=	CA1274778576	RFX8	c.1030G= (p.Glu344=) c.691G= (p.Glu231=) c.904G= (p.Glu302=) c.817G= (p.Glu273=) c.407G= (n.407G=) c.919G= (p.Glu307=) c.601G= (p.Glu201=) c.403G= (p.Glu135=) n.974G= c.178G= (p.Glu60=)
2	g.101412942C>G	CA347974318	RFX8	c.1030G>C (p.Glu344Gln) c.691G>C (p.Glu231Gln) c.904G>C (p.Glu302Gln) c.817G>C (p.Glu273Gln) c.407G>C (n.407G>C) c.919G>C (p.Glu307Gln) c.601G>C (p.Glu201Gln) c.403G>C (p.Glu135Gln) n.974G>C c.178G>C (p.Glu60Gln)
2	g.101412942C>T	CA347974316	RFX8	c.1030G>A (p.Glu344Lys) c.691G>A (p.Glu231Lys) c.904G>A (p.Glu302Lys) c.817G>A (p.Glu273Lys) c.407G>A (n.407G>A) c.919G>A (p.Glu307Lys) c.601G>A (p.Glu201Lys) c.403G>A (p.Glu135Lys) n.974G>A c.178G>A (p.Glu60Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.101412943A>C	CA347974319	RFX8	c.1029T>G (p.Asp343Glu) c.690T>G (p.Asp230Glu) c.903T>G (p.Asp301Glu) c.816T>G (p.Asp272Glu) c.406T>G (n.406T>G) c.918T>G (p.Asp306Glu) c.600T>G (p.Asp200Glu) c.402T>G (p.Asp134Glu) n.973T>G c.177T>G (p.Asp59Glu)
2	g.101412943A>G	CA427793142	RFX8	c.1029T>C (p.Asp343=) c.690T>C (p.Asp230=) c.903T>C (p.Asp301=) c.816T>C (p.Asp272=) c.406T>C (n.406T>C) c.918T>C (p.Asp306=) c.600T>C (p.Asp200=) c.402T>C (p.Asp134=) n.973T>C c.177T>C (p.Asp59=)
2	g.101412943A>T	CA347974320	RFX8	c.1029T>A (p.Asp343Glu) c.690T>A (p.Asp230Glu) c.903T>A (p.Asp301Glu) c.816T>A (p.Asp272Glu) c.406T>A (n.406T>A) c.918T>A (p.Asp306Glu) c.600T>A (p.Asp200Glu) c.402T>A (p.Asp134Glu) n.973T>A c.177T>A (p.Asp59Glu)
2	g.101412944T>A	CA347974321	RFX8	c.1028A>T (p.Asp343Val) c.689A>T (p.Asp230Val) c.902A>T (p.Asp301Val) c.815A>T (p.Asp272Val) c.405A>T (n.405A>T) c.917A>T (p.Asp306Val) c.599A>T (p.Asp200Val) c.401A>T (p.Asp134Val) n.972A>T c.176A>T (p.Asp59Val)	gnomAD v4
2	g.101412944T>C	CA347974322	RFX8	c.1028A>G (p.Asp343Gly) c.689A>G (p.Asp230Gly) c.902A>G (p.Asp301Gly) c.815A>G (p.Asp272Gly) c.405A>G (n.405A>G) c.917A>G (p.Asp306Gly) c.599A>G (p.Asp200Gly) c.401A>G (p.Asp134Gly) n.972A>G c.176A>G (p.Asp59Gly)
2	g.101412944T>G	CA347974323	RFX8	c.1028A>C (p.Asp343Ala) c.689A>C (p.Asp230Ala) c.902A>C (p.Asp301Ala) c.815A>C (p.Asp272Ala) c.405A>C (n.405A>C) c.917A>C (p.Asp306Ala) c.599A>C (p.Asp200Ala) c.401A>C (p.Asp134Ala) n.972A>C c.176A>C (p.Asp59Ala)
2	g.101412945C>A	CA347974324	RFX8	c.1027G>T (p.Asp343Tyr) c.688G>T (p.Asp230Tyr) c.901G>T (p.Asp301Tyr) c.814G>T (p.Asp272Tyr) c.404G>T (n.404G>T) c.916G>T (p.Asp306Tyr) c.598G>T (p.Asp200Tyr) c.400G>T (p.Asp134Tyr) n.971G>T c.175G>T (p.Asp59Tyr)
2	g.101412945C>G	CA347974325	RFX8	c.1027G>C (p.Asp343His) c.688G>C (p.Asp230His) c.901G>C (p.Asp301His) c.814G>C (p.Asp272His) c.404G>C (n.404G>C) c.916G>C (p.Asp306His) c.598G>C (p.Asp200His) c.400G>C (p.Asp134His) n.971G>C c.175G>C (p.Asp59His)	gnomAD v4
2	g.101412945C>T	CA347974326	RFX8	c.1027G>A (p.Asp343Asn) c.688G>A (p.Asp230Asn) c.901G>A (p.Asp301Asn) c.814G>A (p.Asp272Asn) c.404G>A (n.404G>A) c.916G>A (p.Asp306Asn) c.598G>A (p.Asp200Asn) c.400G>A (p.Asp134Asn) n.971G>A c.175G>A (p.Asp59Asn)
2	g.101412946T>A	CA427793153	RFX8	c.1026A>T (p.Ala342=) c.687A>T (p.Ala229=) c.900A>T (p.Ala300=) c.813A>T (p.Ala271=) c.403A>T (n.403A>T) c.915A>T (p.Ala305=) c.597A>T (p.Ala199=) c.399A>T (p.Ala133=) n.970A>T c.174A>T (p.Ala58=)
2	g.101412946T>C	CA427793154	RFX8	c.1026A>G (p.Ala342=) c.687A>G (p.Ala229=) c.900A>G (p.Ala300=) c.813A>G (p.Ala271=) c.403A>G (n.403A>G) c.915A>G (p.Ala305=) c.597A>G (p.Ala199=) c.399A>G (p.Ala133=) n.970A>G c.174A>G (p.Ala58=)
2	g.101412946T>G	CA427793157	RFX8	c.1026A>C (p.Ala342=) c.687A>C (p.Ala229=) c.900A>C (p.Ala300=) c.813A>C (p.Ala271=) c.403A>C (n.403A>C) c.915A>C (p.Ala305=) c.597A>C (p.Ala199=) c.399A>C (p.Ala133=) n.970A>C c.174A>C (p.Ala58=)
2	g.101412947G>A	CA347974327	RFX8	c.1025C>T (p.Ala342Val) c.686C>T (p.Ala229Val) c.899C>T (p.Ala300Val) c.812C>T (p.Ala271Val) c.402C>T (n.402C>T) c.914C>T (p.Ala305Val) c.596C>T (p.Ala199Val) c.398C>T (p.Ala133Val) c.99C>T (n.99C>T) n.969C>T c.173C>T (p.Ala58Val)
2	g.101412947G>C	CA347974328	RFX8	c.1025C>G (p.Ala342Gly) c.686C>G (p.Ala229Gly) c.899C>G (p.Ala300Gly) c.812C>G (p.Ala271Gly) c.402C>G (n.402C>G) c.914C>G (p.Ala305Gly) c.596C>G (p.Ala199Gly) c.398C>G (p.Ala133Gly) c.99C>G (n.99C>G) n.969C>G c.173C>G (p.Ala58Gly)
2	g.101412947G>T	CA347974329	RFX8	c.1025C>A (p.Ala342Glu) c.686C>A (p.Ala229Glu) c.899C>A (p.Ala300Glu) c.812C>A (p.Ala271Glu) c.402C>A (n.402C>A) c.914C>A (p.Ala305Glu) c.596C>A (p.Ala199Glu) c.398C>A (p.Ala133Glu) c.99C>A (n.99C>A) n.969C>A c.173C>A (p.Ala58Glu)
2	g.101412948C>A	CA347974331	RFX8	c.1024G>T (p.Ala342Ser) c.685G>T (p.Ala229Ser) c.898G>T (p.Ala300Ser) c.811G>T (p.Ala271Ser) c.401G>T (n.401G>T) c.913G>T (p.Ala305Ser) c.595G>T (p.Ala199Ser) c.397G>T (p.Ala133Ser) c.98G>T (n.98G>T) n.968G>T c.172G>T (p.Ala58Ser)
2	g.101412948C=	CA1274778577	RFX8	c.1024G= (p.Ala342=) c.685G= (p.Ala229=) c.898G= (p.Ala300=) c.811G= (p.Ala271=) c.401G= (n.401G=) c.913G= (p.Ala305=) c.595G= (p.Ala199=) c.397G= (p.Ala133=) c.98G= (n.98G=) n.968G= c.172G= (p.Ala58=)
2	g.101412948C>G	CA347974330	RFX8	c.1024G>C (p.Ala342Pro) c.685G>C (p.Ala229Pro) c.898G>C (p.Ala300Pro) c.811G>C (p.Ala271Pro) c.401G>C (n.401G>C) c.913G>C (p.Ala305Pro) c.595G>C (p.Ala199Pro) c.397G>C (p.Ala133Pro) c.98G>C (n.98G>C) n.968G>C c.172G>C (p.Ala58Pro)
2	g.101412948C>T	CA1806426	RFX8	c.1024G>A (p.Ala342Thr) c.685G>A (p.Ala229Thr) c.898G>A (p.Ala300Thr) c.811G>A (p.Ala271Thr) c.401G>A (n.401G>A) c.913G>A (p.Ala305Thr) c.595G>A (p.Ala199Thr) c.397G>A (p.Ala133Thr) c.98G>A (n.98G>A) n.968G>A c.172G>A (p.Ala58Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.101412949G>A	CA1806427	RFX8	c.1023C>T (p.Gly341=) c.684C>T (p.Gly228=) c.897C>T (p.Gly299=) c.810C>T (p.Gly270=) c.400C>T (n.400C>T) c.912C>T (p.Gly304=) c.594C>T (p.Gly198=) c.396C>T (p.Gly132=) c.97C>T (n.97C>T) n.967C>T c.171C>T (p.Gly57=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.101412949G>C	CA427793169	RFX8	c.1023C>G (p.Gly341=) c.684C>G (p.Gly228=) c.897C>G (p.Gly299=) c.810C>G (p.Gly270=) c.400C>G (n.400C>G) c.912C>G (p.Gly304=) c.594C>G (p.Gly198=) c.396C>G (p.Gly132=) c.97C>G (n.97C>G) n.967C>G c.171C>G (p.Gly57=)
2	g.101412949G=	CA1274778578	RFX8	c.1023C= (p.Gly341=) c.684C= (p.Gly228=) c.897C= (p.Gly299=) c.810C= (p.Gly270=) c.400C= (n.400C=) c.912C= (p.Gly304=) c.594C= (p.Gly198=) c.396C= (p.Gly132=) c.97C= (n.97C=) n.967C= c.171C= (p.Gly57=)
2	g.101412949G>T	CA427793172	RFX8	c.1023C>A (p.Gly341=) c.684C>A (p.Gly228=) c.897C>A (p.Gly299=) c.810C>A (p.Gly270=) c.400C>A (n.400C>A) c.912C>A (p.Gly304=) c.594C>A (p.Gly198=) c.396C>A (p.Gly132=) c.97C>A (n.97C>A) n.967C>A c.171C>A (p.Gly57=)
2	g.101412950C>A	CA347974332	RFX8	c.1022G>T (p.Gly341Val) c.683G>T (p.Gly228Val) c.896G>T (p.Gly299Val) c.809G>T (p.Gly270Val) c.399G>T (n.399G>T) c.911G>T (p.Gly304Val) c.593G>T (p.Gly198Val) c.395G>T (p.Gly132Val) c.96G>T (n.96G>T) n.966G>T c.170G>T (p.Gly57Val)
2	g.101412950C>G	CA347974333	RFX8	c.1022G>C (p.Gly341Ala) c.683G>C (p.Gly228Ala) c.896G>C (p.Gly299Ala) c.809G>C (p.Gly270Ala) c.399G>C (n.399G>C) c.911G>C (p.Gly304Ala) c.593G>C (p.Gly198Ala) c.395G>C (p.Gly132Ala) c.96G>C (n.96G>C) n.966G>C c.170G>C (p.Gly57Ala)
2	g.101412950C>T	CA347974334	RFX8	c.1022G>A (p.Gly341Asp) c.683G>A (p.Gly228Asp) c.896G>A (p.Gly299Asp) c.809G>A (p.Gly270Asp) c.399G>A (n.399G>A) c.911G>A (p.Gly304Asp) c.593G>A (p.Gly198Asp) c.395G>A (p.Gly132Asp) c.96G>A (n.96G>A) n.966G>A c.170G>A (p.Gly57Asp)
2	g.101412951C>A	CA347974335	RFX8	c.1021G>T (p.Gly341Cys) c.682G>T (p.Gly228Cys) c.895G>T (p.Gly299Cys) c.808G>T (p.Gly270Cys) c.398G>T (n.398G>T) c.910G>T (p.Gly304Cys) c.592G>T (p.Gly198Cys) c.394G>T (p.Gly132Cys) c.95G>T (n.95G>T) n.965G>T c.169G>T (p.Gly57Cys)
2	g.101412951C>G	CA347974336	RFX8	c.1021G>C (p.Gly341Arg) c.682G>C (p.Gly228Arg) c.895G>C (p.Gly299Arg) c.808G>C (p.Gly270Arg) c.398G>C (n.398G>C) c.910G>C (p.Gly304Arg) c.592G>C (p.Gly198Arg) c.394G>C (p.Gly132Arg) c.95G>C (n.95G>C) n.965G>C c.169G>C (p.Gly57Arg)
2	g.101412951C>T	CA347974337	RFX8	c.1021G>A (p.Gly341Ser) c.682G>A (p.Gly228Ser) c.895G>A (p.Gly299Ser) c.808G>A (p.Gly270Ser) c.398G>A (n.398G>A) c.910G>A (p.Gly304Ser) c.592G>A (p.Gly198Ser) c.394G>A (p.Gly132Ser) c.95G>A (n.95G>A) n.965G>A c.169G>A (p.Gly57Ser)	gnomAD v4
2	g.101412952A=	CA1274778579	RFX8	c.1020T= (p.Ser340=) c.681T= (p.Ser227=) c.894T= (p.Ser298=) c.807T= (p.Ser269=) c.397T= (n.397T=) c.909T= (p.Ser303=) c.591T= (p.Ser197=) c.393T= (p.Ser131=) c.94T= (n.94T=) n.964T= c.168T= (p.Ser56=)
2	g.101412952A>C	CA347974338	RFX8	c.1020T>G (p.Ser340Arg) c.681T>G (p.Ser227Arg) c.894T>G (p.Ser298Arg) c.807T>G (p.Ser269Arg) c.397T>G (n.397T>G) c.909T>G (p.Ser303Arg) c.591T>G (p.Ser197Arg) c.393T>G (p.Ser131Arg) c.94T>G (n.94T>G) n.964T>G c.168T>G (p.Ser56Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.101412952A>G	CA427793182	RFX8	c.1020T>C (p.Ser340=) c.681T>C (p.Ser227=) c.894T>C (p.Ser298=) c.807T>C (p.Ser269=) c.397T>C (n.397T>C) c.909T>C (p.Ser303=) c.591T>C (p.Ser197=) c.393T>C (p.Ser131=) c.94T>C (n.94T>C) n.964T>C c.168T>C (p.Ser56=)	dbSNP gnomAD v2 gnomAD v4
2	g.101412952A>T	CA347974339	RFX8	c.1020T>A (p.Ser340Arg) c.681T>A (p.Ser227Arg) c.894T>A (p.Ser298Arg) c.807T>A (p.Ser269Arg) c.397T>A (n.397T>A) c.909T>A (p.Ser303Arg) c.591T>A (p.Ser197Arg) c.393T>A (p.Ser131Arg) c.94T>A (n.94T>A) n.964T>A c.168T>A (p.Ser56Arg)
2	g.101412953C>A	CA347974340	RFX8	c.1019G>T (p.Ser340Ile) c.680G>T (p.Ser227Ile) c.893G>T (p.Ser298Ile) c.806G>T (p.Ser269Ile) c.396G>T (n.396G>T) c.908G>T (p.Ser303Ile) c.590G>T (p.Ser197Ile) c.392G>T (p.Ser131Ile) c.93G>T (n.93G>T) n.963G>T c.167G>T (p.Ser56Ile)
2	g.101412953C>G	CA347974341	RFX8	c.1019G>C (p.Ser340Thr) c.680G>C (p.Ser227Thr) c.893G>C (p.Ser298Thr) c.806G>C (p.Ser269Thr) c.396G>C (n.396G>C) c.908G>C (p.Ser303Thr) c.590G>C (p.Ser197Thr) c.392G>C (p.Ser131Thr) c.93G>C (n.93G>C) n.963G>C c.167G>C (p.Ser56Thr)
2	g.101412953C>T	CA347974342	RFX8	c.1019G>A (p.Ser340Asn) c.680G>A (p.Ser227Asn) c.893G>A (p.Ser298Asn) c.806G>A (p.Ser269Asn) c.396G>A (n.396G>A) c.908G>A (p.Ser303Asn) c.590G>A (p.Ser197Asn) c.392G>A (p.Ser131Asn) c.93G>A (n.93G>A) n.963G>A c.167G>A (p.Ser56Asn)	gnomAD v4
2	g.101412954T>A	CA347974344	RFX8	c.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)
2	g.101412954T>C	CA1806428	RFX8	c.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
2	g.101412954T>G	CA347974343	RFX8	c.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)
2	g.101412954T=	CA1274778580	RFX8	c.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=)
2	g.101412955C>A	CA427793196	RFX8	c.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=)
2	g.101412955C>G	CA427793198	RFX8	c.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=)
2	g.101412955C>T	CA427793200	RFX8	c.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
2	g.101412956C>A	CA347974345	RFX8	c.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
2	g.101412956C=	CA1274778581	RFX8	c.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=)
2	g.101412956C>G	CA347974347	RFX8	c.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)
2	g.101412956C>T	CA347974346	RFX8	c.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
2	g.101412957G>A	CA1806429	RFX8	c.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
2	g.101412957G>C	CA347974348	RFX8	c.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)
2	g.101412957G=	CA1274778582	RFX8	c.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=)
2	g.101412957G>T	CA427793208	RFX8	c.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
2	g.101412958G>A	CA53230238	RFX8	c.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
2	g.101412958G>C	CA347974349	RFX8	c.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)
2	g.101412958G=	CA1274778583	RFX8	c.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=)
2	g.101412958G>T	CA347974350	RFX8	c.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
2	g.101412959T>A	CA347974351	RFX8	c.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)
2	g.101412959T>C	CA347974352	RFX8	c.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)
2	g.101412959T>G	CA347974353	RFX8	c.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)
2	g.101412960C>A	CA347974354	RFX8	c.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
2	g.101412960C=	CA1274778584	RFX8	c.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=)
2	g.101412960C>G	CA347974355	RFX8	c.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)
2	g.101412960C>T	CA347974356	RFX8	c.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)
2	g.101412961A=	CA1274778585	RFX8	c.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=)
2	g.101412961A>C	CA347974357	RFX8	c.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)
2	g.101412961A>G	CA427793223	RFX8	c.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
2	g.101412961A>T	CA347974358	RFX8	c.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)
2	g.101412962C>A	CA347974361	RFX8	c.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)
2	g.101412962C>G	CA347974359	RFX8	c.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)
2	g.101412962C>T	CA347974360	RFX8	c.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
2	g.101412963T>A	CA347974362	RFX8	c.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)
2	g.101412963T>C	CA347974363	RFX8	c.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)
2	g.101412963T>G	CA347974364	RFX8	c.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)
2	g.101412964T>A	CA427793235	RFX8	c.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=)
2	g.101412964T>C	CA427793238	RFX8	c.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
2	g.101412964T>G	CA427793239	RFX8	c.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=)
2	g.101412965del	CA2660437695	RFX8	c.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
2	g.101412965G>A	CA347974365	RFX8	c.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)
2	g.101412965G>C	CA347974366	RFX8	c.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)
2	g.101412965G>T	CA347974367	RFX8	c.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)
2	g.101412966C>A	CA347974368	RFX8	c.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
2	g.101412966C=	CA1274778586	RFX8	c.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=)
2	g.101412966C>G	CA347974369	RFX8	c.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)
2	g.101412966C>T	CA347974370	RFX8	c.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)
2	g.101412967C>A	CA427793248	RFX8	c.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=)
2	g.101412967C>G	CA427793251	RFX8	c.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=)
2	g.101412967C>T	CA427793253	RFX8	c.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=)
2	g.101412968A=	CA1274778587	RFX8	c.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=)
2	g.101412968A>C	CA53230240	RFX8	c.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
2	g.101412968A>G	CA347974371	RFX8	c.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)
2	g.101412968A>T	CA347974372	RFX8	c.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)
2	g.101412969G>A	CA427793260	RFX8	c.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=)
2	g.101412969G>C	CA347974373	RFX8	c.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)
2	g.101412969G>T	CA347974374	RFX8	c.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
2	g.101412970G>A	CA427793264	RFX8	c.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
2	g.101412970G>C	CA427793267	RFX8	c.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=)
2	g.101412970G=	CA1274778588	RFX8	c.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=)
2	g.101412970G>T	CA427793269	RFX8	c.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=)
2	g.101412971G>A	CA347974375	RFX8	c.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
2	g.101412971G>C	CA347974376	RFX8	c.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
2	g.101412971G=	CA1274778589	RFX8	c.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=)
2	g.101412971G>T	CA347974377	RFX8	c.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
2	g.101412972C>A	CA347974378	RFX8	c.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)
2	g.101412972C=	CA1274778590	RFX8	c.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=)
2	g.101412972C>G	CA347974379	RFX8	c.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)
2	g.101412972C>T	CA347974380	RFX8	c.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
2	g.101412973T>A	CA347974381	RFX8	c.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)
2	g.101412973T>C	CA427793282	RFX8	c.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=)
2	g.101412973T>G	CA347974382	RFX8	c.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)
2	g.101412974T>A	CA347974383	RFX8	c.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
2	g.101412974T>C	CA347974384	RFX8	c.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)
2	g.101412974T>G	CA347974385	RFX8	c.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)
2	g.101412975T>A	CA347974386	RFX8	c.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)
2	g.101412975T>C	CA347974387	RFX8	c.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)
2	g.101412975T>G	CA347974388	RFX8	c.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)
2	g.101412976C>A	CA347974389	RFX8	c.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)
2	g.101412976C=	CA1274778591	RFX8	c.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=)
2	g.101412976C>G	CA347974390	RFX8	c.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)
2	g.101412976C>T	CA427793295	RFX8	c.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
2	g.101412977T>A	CA347974391	RFX8	c.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)
2	g.101412977T>C	CA347974392	RFX8	c.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)
2	g.101412977T>G	CA347974393	RFX8	c.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)
2	g.101412978T>A	CA347974394	RFX8	c.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)
2	g.101412978T>C	CA347974395	RFX8	c.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
2	g.101412978T>G	CA347974396	RFX8	c.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)
2	g.101412978T=	CA1274778592	RFX8	c.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=)
2	g.101412979A>C	CA427793307	RFX8	c.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=)
2	g.101412979A>G	CA427793310	RFX8	c.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=)
2	g.101412979A>T	CA427793309	RFX8	c.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
2	g.101412980G>A	CA347974397	RFX8	c.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)
2	g.101412980G>C	CA347974398	RFX8	c.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)
2	g.101412980G>T	CA347974399	RFX8	c.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)
2	g.101412981A>C	CA347974400	RFX8	c.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)
2	g.101412981A>G	CA347974401	RFX8	c.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)
2	g.101412981A>T	CA347974402	RFX8	c.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)
2	g.101412982A>C	CA427793323	RFX8	c.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
2	g.101412982A>G	CA427793326	RFX8	c.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
2	g.101412982A>T	CA427793328	RFX8	c.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=)
2	g.101412982_101412984delinsAGT	CA1274778593	RFX8	c.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=)
2	g.101412983G>A	CA347974405	RFX8	c.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)
2	g.101412983G>C	CA347974404	RFX8	c.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)
2	g.101412983G>T	CA347974403	RFX8	c.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)
2	g.101412983_101412984del	CA535107060	RFX8	c.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
2	g.101412984T>A	CA347974406	RFX8	c.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
2	g.101412984T>C	CA347974408	RFX8	c.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
2	g.101412984T>G	CA347974407	RFX8	c.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
2	g.101412985A=	CA1274778594	RFX8	c.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=)
2	g.101412985A>C	CA427793341	RFX8	c.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=)
2	g.101412985A>G	CA427793344	RFX8	c.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
2	g.101412985A>T	CA427793348	RFX8	c.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=)
2	g.101412986G>A	CA1806430	RFX8	c.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
2	g.101412986G>C	CA347974410	RFX8	c.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)
2	g.101412986G=	CA1274778595	RFX8	c.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=)
2	g.101412986G>T	CA347974409	RFX8	c.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)
2	g.101412987C>A	CA347974411	RFX8	c.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)
2	g.101412987C>G	CA347974413	RFX8	c.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)
2	g.101412987C>T	CA347974412	RFX8	c.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)
2	g.101412988C>A	CA347974414	RFX8	c.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)
2	g.101412988C>G	CA347974415	RFX8	c.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)
2	g.101412988C>T	CA427793371	RFX8	c.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=)
2	g.101412989A=	CA1274778596	RFX8	c.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=)
2	g.101412989A>C	CA347974416	RFX8	c.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)
2	g.101412989A>G	CA347974417	RFX8	c.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
2	g.101412989A>T	CA347974418	RFX8	c.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
2	g.101412990A>C	CA347974419	RFX8	c.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)
2	g.101412990A>G	CA427793383	RFX8	c.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=)
2	g.101412990A>T	CA347974420	RFX8	c.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)
2	g.101412991A=	CA1274778597	RFX8	c.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=)
2	g.101412991A>C	CA427793389	RFX8	c.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=)
2	g.101412991A>G	CA427793391	RFX8	c.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=)
2	g.101412991A>T	CA427793393	RFX8	c.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
2	g.101412992G>A	CA347974423	RFX8	c.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)
2	g.101412992G>C	CA347974421	RFX8	c.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
2	g.101412992G=	CA1274778598	RFX8	c.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=)
2	g.101412992G>T	CA347974422	RFX8	c.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)
2	g.101412993T>A	CA347974424	RFX8	c.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
2	g.101412993T>C	CA347974425	RFX8	c.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
2	g.101412993T>G	CA347974426	RFX8	c.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)
2	g.101412993T=	CA1274778599	RFX8	c.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=)
2	g.101412994G>A	CA427793412	RFX8	c.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
2	g.101412994G>C	CA427793417	RFX8	c.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=)
2	g.101412994G=	CA1274778600	RFX8	c.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=)
2	g.101412994G>T	CA427793413	RFX8	c.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=)
2	g.101412995C>A	CA347974427	RFX8	c.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)
2	g.101412995C=	CA1274778601	RFX8	c.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=)
2	g.101412995C>G	CA347974428	RFX8	c.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
2	g.101412995C>T	CA347974429	RFX8	c.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
2	g.101412996C>A	CA347974430	RFX8	c.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)
2	g.101412996C>G	CA347974432	RFX8	c.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)
2	g.101412996C>T	CA347974431	RFX8	c.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
2	g.101412996_101412998del	CA645513967	RFX8	c.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
2	g.101412997T>A	CA347974433	RFX8	c.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)
2	g.101412997T>C	CA427793432	RFX8	c.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
2	g.101412997T>G	CA347974434	RFX8	c.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)
2	g.101412997T=	CA1274778602	RFX8	c.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=)
2	g.101412998T>A	CA1806431	RFX8	c.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
2	g.101412998T>C	CA347974435	RFX8	c.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)
2	g.101412998T>G	CA347974436	RFX8	c.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
2	g.101412998T=	CA1274778603	RFX8	c.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=)
2	g.101412998_101412999delinsTG	CA1274778604	RFX8	c.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=)
2	g.101412999del	CA535107088	RFX8	c.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
2	g.101412999G>A	CA347974437	RFX8	c.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
2	g.101412999G>C	CA347974438	RFX8	c.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)
2	g.101412999G=	CA1274778605	RFX8	c.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=)
2	g.101412999G>T	CA347974439	RFX8	c.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)
2	g.101413000A>C	CA347974440	RFX8	c.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)
2	g.101413000A>G	CA427793450	RFX8	c.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
2	g.101413000A>T	CA347974441	RFX8	c.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)
2	g.101413001T>A	CA347974442	RFX8	c.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)
2	g.101413001T>C	CA1806432	RFX8	c.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
2	g.101413001T>G	CA347974443	RFX8	c.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)
2	g.101413001T=	CA1274778606	RFX8	c.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=)
2	g.101413002T>A	CA347974444	RFX8	c.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)
2	g.101413002T>C	CA347974446	RFX8	c.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)
2	g.101413002T>G	CA347974445	RFX8	c.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)
2	g.101413003G>A	CA427793467	RFX8	c.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=)
2	g.101413003G>C	CA347974447	RFX8	c.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)
2	g.101413003G>T	CA427793472	RFX8	c.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=)
2	g.101413004A>C	CA347974448	RFX8	c.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)
2	g.101413004A>G	CA347974449	RFX8	c.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
2	g.101413004A>T	CA347974450	RFX8	c.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)
2	g.101413005T>A	CA347974451	RFX8	c.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)
2	g.101413005T>C	CA347974452	RFX8	c.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
2	g.101413005T>G	CA347974453	RFX8	c.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)
2	g.101413006G>A	CA427793491	RFX8	c.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
2	g.101413006G>C	CA53230245	RFX8	c.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
2	g.101413006G=	CA1274778607	RFX8	c.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=)
2	g.101413006G>T	CA427793495	RFX8	c.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
2	g.101413007A>C	CA347974454	RFX8	c.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)
2	g.101413007A>G	CA347974455	RFX8	c.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)
2	g.101413007A>T	CA347974456	RFX8	c.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)
2	g.101413008T>A	CA347974457	RFX8	c.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)
2	g.101413008T>C	CA53230247	RFX8	c.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
2	g.101413008T>G	CA347974458	RFX8	c.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)
2	g.101413008T=	CA1274778608	RFX8	c.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=)
2	g.101413009G>A	CA427793513	RFX8	c.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
2	g.101413009G>C	CA427793515	RFX8	c.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=)
2	g.101413009G=	CA1274778609	RFX8	c.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=)
2	g.101413009G>T	CA427793519	RFX8	c.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=)
2	g.101413010G>A	CA347974459	RFX8	c.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
2	g.101413010G>C	CA347974461	RFX8	c.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)
2	g.101413010G>T	CA347974460	RFX8	c.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)
2	g.101413011C>A	CA347974462	RFX8	c.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)
2	g.101413011C>G	CA347974463	RFX8	c.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)
2	g.101413011C>T	CA347974464	RFX8	c.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
2	g.101413012C>A	CA347974465	RFX8	c.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
2	g.101413012C=	CA1274778610	RFX8	c.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=)
2	g.101413012C>G	CA347974466	RFX8	c.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)
2	g.101413012C>T	CA427793539	RFX8	c.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
2	g.101413013T>A	CA347974467	RFX8	c.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)
2	g.101413013T>C	CA347974468	RFX8	c.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)
2	g.101413013T>G	CA347974469	RFX8	c.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)
2	g.101413014G>A	CA347974470	RFX8	c.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
2	g.101413014G>C	CA347974471	RFX8	c.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)
2	g.101413014G>T	CA347974472	RFX8	c.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)
2	g.101413015T>A	CA427793557	RFX8	c.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=)
2	g.101413015T>C	CA427793559	RFX8	c.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
2	g.101413015T>G	CA427793556	RFX8	c.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=)
2	g.101413015_101413016dup	CA2660437696	RFX8	c.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
2	g.101413016A>C	CA347974473	RFX8	c.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)
2	g.101413016A>G	CA347974475	RFX8	c.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)
2	g.101413016A>T	CA347974474	RFX8	c.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)
2	g.101413017G>A	CA427793567	RFX8	c.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
2	g.101413017G>C	CA347974476	RFX8	c.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
2	g.101413017G=	CA1274778611	RFX8	c.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=)
2	g.101413017G>T	CA347974477	RFX8	c.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
2	g.101413018A>C	CA347974478	RFX8	c.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)
2	g.101413018A>G	CA427793574	RFX8	c.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=)
2	g.101413018A>T	CA347974479	RFX8	c.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)
2	g.101413019T>A	CA347974480	RFX8	c.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)
2	g.101413019T>C	CA347974481	RFX8	c.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)
2	g.101413019T>G	CA347974482	RFX8	c.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)

Number of alleles fetched