PRF1

see figure with all variants

Genetic Variant^a	Protein Variant^b	Variant type	Biallelic^c	Monoallelic^d	Described >1 patient	Functional studies^e	Bibliography^f	ACMG Classification^g	ClinVar	ExAC	PolyPhen-2
c.1A>G	p.Met1Val	missense	Yes	-	Yes	Yes		Pathogenic			Possibly damaging
c.3G>A	p.Met1Ile	missense	Yes	-	-	-		Pathogenic			Possibly damaging
c.10C>T	p.Arg4Cys	missense	Yes	Yes	Yes	-		Uncertain significance	Uncertain significance	1.4·10^-03	Benign
c.35_46del	p.Leu12_Leu15del	in-frame deletion	Yes	-	-	-		Uncertain significance
c.46C>T	p.Pro16Ser	missense	Yes	-	-	-		Uncertain significance			Probably damaging
c.50del	p.Leu17Argfs*34	frameshift	Yes	-	Yes	Yes	*	Pathogenic
c.65C>T	p.Pro22Leu	missense	-	Yes	-	-		Uncertain significance		7.6·10^-05	Probably damaging
c.65del	p.Pro22Argfs*29	frameshift	Yes	-	Yes	-	*	Pathogenic
c.82C>T	p.Arg28Cys	missense	Yes	-	-	Yes		Uncertain significance	Uncertain significance	1.3·10^-03	Probably damaging
c.83G>A	p.Arg28His	missense	-	Yes	Yes	-		Uncertain significance			Possibly damaging
c.91T>G	p.Cys31Gly	missense	Yes	-	Yes	Yes		Pathogenic			Probably damaging
c.93C>G	p.Cys31Trp	missense	Yes	-	Yes	Yes		Pathogenic			Probably damaging
c.98G>A	p.Arg33His	missense	Yes	-	Yes	-		Uncertain significance		1.1·10^-04	Benign
c.112G>A	p.Val38Met	missense	Yes	-	-	-		Likely pathogenic	Uncertain significance	7.1·10^-05	Probably damaging
c.116C>A	p.Pro39His	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.133G>A	p.Gly45Arg	missense	Yes	-	-	Yes		Pathogenic	Uncertain significance		Probably damaging
c.134G>A	p.Gly45Glu	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.136G>A	p.Glu46Lys	missense	Yes	-	-	Yes		Likely pathogenic			Probably damaging
c.136G>T	p.Glu46*	nonsense	Yes	-	Yes	Yes		Pathogenic
c.140G>T	p.Gly47Val	missense	Yes	-	Yes	Yes		Likely pathogenic			Probably damaging
c.145G>A	p.Asp49Asn	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.148G>A	p.Val50Met	missense	Yes	-	Yes	Yes		Likely pathogenic			Probably damaging
c.148G>C	p.Val50Leu	missense	-	Yes	-	-		Likely pathogenic		6.8·10^-05	Possibly damaging
c.150del	p.Thr51Profs*56	frameshift	-	-	-	-	*	Pathogenic
c.160C>T	p.Arg54Cys	missense	Yes	-	Yes	Yes		Pathogenic		3.4·10^-05	Probably damaging
c.163C>T	p.Arg55Cys	missense	-	-	-	-		Likely pathogenic		1.4·10^-04	Probably damaging
c.172T>C	p.Ser58Pro	missense	Yes	-	-	-		Uncertain significance			Benign
c.185_195del	p.Asp62Valfs*12	frameshift	Yes	-	-	-	*	Pathogenic
c.190C>T	p.Gln64*	nonsense	Yes	-	-	-		Pathogenic	Pathogenic
c.207del	p.Asp70Thrfs*37	frameshift	Yes	-	Yes	Yes	*	Pathogenic
c.208G>T	p.Asp70Tyr	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.209A>T	p.Asp70Val	missense	-	-	-	-		Likely pathogenic			Probably damaging
c.214A>C	p.Thr72Pro	missense	Yes	-	-	-		Likely pathogenic			Probably damaging
c.217T>C	p.Cys73Arg	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.218G>A	p.Cys73Tyr	missense	Yes	-	-	-		Likely pathogenic		8.4·10^-06	Probably damaging
c.218G>C	p.Cys73Ser	missense	Yes	-	-	-		Likely pathogenic			Probably damaging
c.227G>A	p.Cys76Tyr	missense	Yes	-	Yes	-		Likely pathogenic		8.4·10^-06	Probably damaging
c.265C>A	p.Pro89Thr	missense	Yes	-	Yes	-		Likely pathogenic			Probably damaging
c.266C>T	p.Pro89Leu	missense	Yes	-	-	-		Likely pathogenic			Probably damaging
c.272C>T	p.Ala91Val	missense	Yes	Yes	Yes	Yes		Uncertain significance	Conflicting interpretations pathogenicity	3.1·10^-02	Probably damaging
c.283T>C	p.Trp95Arg	missense	Yes	-	-	Yes	*	Pathogenic			Probably damaging
c.284G>A	p.Trp95*	nonsense	Yes	-	-	-		Pathogenic
c.285G>T	p.Trp95Cys	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.286C>G	p.Arg96Gly	missense	Yes	-	-	-	*	Likely pathogenic			Probably damaging
c.305G>T	p.Cys102Phe	missense	-	Yes	Yes	-		Likely pathogenic		8.4·10^-06	Probably damaging
c.307_308insA	p.Arg104Alafs*12	frameshift	Yes	-	-	Yes	*	Likely pathogenic
c.350_356delinsATGC	p.Val117Aspfs*439	frameshift	Yes	-	-	Yes	*	Pathogenic
c.355C>T	p.Arg119Trp	missense	Yes	-	Yes	Yes		Pathogenic		8.3·10^-06	Probably damaging
c.380A>G	p.Asn127Ser	missense	Yes	-	-	-		Likely pathogenic	Uncertain significance		Probably damaging
c.382G>A	p.Asp128Asn	missense	Yes	-	-	Yes	*	Uncertain significance	Uncertain significance	6.6·10^-05	Probably damaging
c.382G>T	p.Asp128Tyr	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.386G>C	p.Trp129Ser	missense	Yes	Yes	Yes	-		Likely pathogenic	Likely pathogenic	6.6·10^-05	Probably damaging
c.394G>A	p.Gly132Arg	missense	Yes	-	Yes	Yes		Pathogenic		8.3·10^-06	Probably damaging
c.422G>T	p.Ser141Ile	missense	-	Yes	-	-	*	Uncertain significance			Benign
c.443C>A	p.Ala148Asp	missense	Yes	-	-	Yes		Pathogenic		1.6·10^-05	Probably damaging
c.443C>G	p.Ala148Gly	missense	Yes	-	-	-		Likely pathogenic	Likely pathogenic		Probably damaging
c.443C>T	p.Ala148Val	missense	Yes	-	Yes	-	*	Likely pathogenic			Probably damaging
c.445G>A	p.Gly149Ser	missense	Yes	-	-	Yes		Likely pathogenic	Pathogenic	1.4·10^-04	Probably damaging
c.445G>C	p.Gly149Arg	missense	Yes	-	Yes	Yes		Pathogenic			Probably damaging
c.449C>A	p.Ser150*	nonsense	Yes	-	-	Yes		Pathogenic		2.5·10^-05
c.452A>T	p.His151Leu	missense	Yes	-	-	-		Likely pathogenic		8.2·10^-06	Probably damaging
c.469T>G	p.Phe157Val	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.490C>T	p.Gln164*	nonsense	Yes	-	Yes	Yes		Pathogenic
c.503G>A	p.Ser168Asn	missense	-	-	-	-	*	Uncertain significance		2.5·10^-05	Benign
c.508A>C	p.Ser170Arg	missense	Yes	-	-	Yes		Pathogenic			Possibly damaging
c.510_510del	p.Ser170Argfs*89	frameshift	Yes	-	-	Yes		Likely pathogenic
c.512C>A	p.Thr171Asn	missense	Yes	-	-	Yes		Likely pathogenic			Benign
c.527G>A	p.Cys176Tyr	missense	Yes	-	-	-		Likely pathogenic			Probably damaging
c.528_529delinsAA	p.Cys176*	nonsense	Yes	-	Yes	Yes	*	Pathogenic
c.530G>A	p.Arg177His	missense	-	Yes	-	-		Uncertain significance		1.7·10^-05	Benign
c.536_537insC	p.Ser180Glnfs*13	frameshift	Yes	-	-	-	*	-
c.548T>G	p.Val183Gly	missense	Yes	-	-	Yes		Pathogenic	Pathogenic		Possibly damaging
c.563C>T	p.Pro188Leu	missense	Yes	-	-	Yes		Likely pathogenic		1.1·10^-04	Probably damaging
c.577T>C	p.Phe193Leu	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.590T>G	p.Leu197Arg	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.601C>A	p.Pro201Thr	missense	Yes	-	Yes	Yes		Pathogenic			Probably damaging
c.614A>G	p.Asn205Ser	missense	Yes	-	-	Yes		Pathogenic		2.5·10^-05	Probably damaging
c.626A>C	p.Gln209Pro	missense	Yes	-	-	-		Uncertain significance		1.7·10^-05	Possibly damaging
c.626A>G	p.Gln209Arg	missense	Yes	-	-	-	*	Uncertain significance			Benign
c.632C>T	p.Ala211Val	missense	-	Yes	Yes	-		Likely benign	Benign	2.4·10^-03	Benign
c.635A>C	p.Tyr212Ser	missense	Yes	-	-	-		Likely pathogenic			Probably damaging
c.643C>A	p.Leu215Ile	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.647T>C	p.Ile216Thr	missense	Yes	-	-	Yes		Likely pathogenic			Probably damaging
c.655T>A	p.Tyr219Asn	missense	-	Yes	-	Yes		Likely pathogenic			Probably damaging
c.657C>A	p.Tyr219*	nonsense	Yes	-	-	-		Pathogenic		8.3·10^-06
c.658G>A	p.Gly220Ser	missense	Yes	-	Yes	Yes		Pathogenic		8.3·10^-06	Probably damaging
c.658G>C	p.Gly220Arg	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.659G>A	p.Gly220Asp	missense	Yes	-	-	-		Pathogenic		1.7·10^-05	Probably damaging
c.662C>T	p.Thr221Ile	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.665A>G	p.His222Arg	missense	Yes	Yes	Yes	Yes		Pathogenic			Probably damaging
c.666C>A	p.His222Gln	missense	Yes	-	Yes	Yes		Pathogenic	Pathogenic	2.5·10^-05	Probably damaging
c.671T>A	p.Ile224Asn	missense	Yes	-	Yes	-		Likely pathogenic			Probably damaging
c.673C>T	p.Arg225Trp	missense	Yes	-	Yes	Yes		Pathogenic	Pathogenic	2.5·10^-05	Probably damaging
c.674G>C	p.Arg225Pro	missense	Yes	-	Yes	Yes		Pathogenic	Uncertain significance		Possibly damaging
c.694C>T	p.Arg232Cys	missense	Yes	-	Yes	Yes		Pathogenic		1.7·10^-05	Probably damaging
c.695G>A	p.Arg232His	missense	Yes	-	-	Yes		Uncertain significance	Uncertain significance	9.1·10^-05	Probably damaging
c.718C>G	p.Arg240Gly	missense	Yes	-	-	-		Likely pathogenic			Probably damaging
c.727G>T	p.Glu243*	nonsense	Yes	-	-	Yes		Pathogenic
c.755A>G	p.Asn252Ser	missense	Yes	Yes	Yes	Yes		Uncertain significance	Conflicting interpretations pathogenicity	5.2·10^-03	Benign
c.757G>A	p.Glu253Lys	missense	Yes	-	Yes	Yes		Likely pathogenic		3.3·10^-05	Probably damaging
c.771C>A	p.Cys257*	nonsense	Yes	-	-	Yes		Pathogenic
c.781G>A	p.Glu261Lys	missense	Yes	-	Yes	Yes		Pathogenic		8.2·10^-06	Probably damaging
c.785C>A	p.Ala262Asp	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.785C>T	p.Ala262Val	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.786_801del	p.Gln263Serfs*21	frameshift	Yes	-	-	-	*	Pathogenic
c.797T>C	p.Ile266Thr	missense	Yes	-	-	Yes		Likely pathogenic		8.2·10^-06	Probably damaging
c.833C>A	p.Ala278Asp	missense	-	Yes	Yes	Yes		Likely pathogenic			Possibly damaging
c.836G>A	p.Cys279Tyr	missense	Yes	-	-	Yes		Pathogenic	Pathogenic	3.3·10^-05	Probably damaging
c.851_862del	p.Lys284_Lys287del	in-frame deletion	Yes	-	-	Yes	*	Likely pathogenic
c.853_855del	p.Lys285del	in-frame deletion	Yes	-	Yes	Yes	*	Likely pathogenic
c.879del	p.Gln294Lysfs*36	frameshift	Yes	-	-	-	*	Pathogenic
c.886T>C	p.Tyr296His	missense	Yes	-	Yes	Yes		Pathogenic		1.6·10^-05	Probably damaging
c.893A>G	p.Glu298Gly	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.895C>A	p.Arg299Ser	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.895C>T	p.Arg299Cys	missense	Yes	-	-	-		Likely pathogenic			Probably damaging
c.902C>A	p.Ser301*	nonsense	Yes	-	-	-		Pathogenic
c.904G>T	p.Glu302*	nonsense	Yes	-	-	-		Pathogenic
c.913G>A	p.Gly305Ser	missense	-	Yes	-	Yes		Likely pathogenic			Probably damaging
c.916G>A	p.Gly306Ser	missense	Yes	-	Yes	Yes		Likely pathogenic	Uncertain significance	2.5·10^-05	Probably damaging
c.916G>T	p.Gly306Cys	missense	Yes	-	Yes	Yes		Pathogenic			Probably damaging
c.921del	p.His308Thrfs*22	frameshift	Yes	Yes	-	-	*	Pathogenic
c.937G>A	p.Asp313Asn	missense	Yes	-	-	-	*	Likely pathogenic		2.5·10^-05	Probably damaging
c.938A>T	p.Asp313Val	missense	Yes	-	-	-		Likely pathogenic		1.6·10^-05	Probably damaging
c.941_948delinsA	p.Leu314Glnfs*14	frameshift	Yes	-	-	Yes	*	Pathogenic
c.949G>A	p.Gly317Arg	missense	Yes	-	-	-		Likely pathogenic		1.6·10^-05	Probably damaging
c.973T>C	p.Tyr325His	missense	Yes	-	-	-		Likely pathogenic			Probably damaging
c.984G>A	p.Trp328*	nonsense	Yes	-	-	-	*	Pathogenic
c.985dup	p.Val329Glyfs*129	frameshift	Yes	-	-	-	*	Pathogenic
c.992C>T	p.Ser331Leu	missense	-	Yes	-	Yes		Likely pathogenic	Uncertain significance	1.7·10^-05	Probably damaging
c.1000G>A	p.Gly334Ser	missense	-	-	-	-		Uncertain significance	Uncertain significance	3.9·10^-04	Benign
c.1005C>A	p.Ser335Arg	missense	-	Yes	-	-		Uncertain significance		8.3·10^-06	Benign
c.1018G>A	p.Asp340Asn	missense	Yes	-	Yes	Yes		Pathogenic		8.3·10^-06	Possibly damaging
c.1034C>G	p.Pro345Arg	missense	Yes	-	-	-		Likely pathogenic			Probably damaging
c.1034C>T	p.Pro345Leu	missense	Yes	-	-	-		Likely pathogenic	Pathogenic	8.4·10^-06	Probably damaging
c.1042G>A	p.Val348Met	missense	Yes	Yes	Yes	-		Uncertain significance		8.4·10^-06	Benign
c.1066C>T	p.Arg356Trp	missense	Yes	-	-	Yes		Pathogenic		8.6·10^-06	Benign
c.1070G>C	p.Arg357Pro	missense	Yes	-	-	-		Likely pathogenic			Probably damaging
c.1081A>T	p.Arg361Trp	missense	Yes	-	Yes	Yes		Pathogenic	Pathogenic	8.7·10^-06	Probably damaging
c.1083_1094del	p.Arg361_Leu364del	in-frame deletion	Yes	-	-	-	*	Likely pathogenic
c.1083del	p.Arg362Glyfs*3	frameshift	Yes	-	-	-	*	Pathogenic
c.1090_1091del	p.Leu364Glufs*93	frameshift	Yes	-	Yes	-	*	Pathogenic
c.1091T>G	p.Leu364Arg	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.1099T>C	p.Tyr367His	missense	Yes	-	-	Yes		Pathogenic			Probably damaging
c.1117C>T	p.Arg373Cys	missense	Yes	-	Yes	-		Likely pathogenic		5.3·10^-05	Probably damaging
c.1120T>G	p.Trp374Gly	missense	Yes	-	-	-		Likely pathogenic	Likely pathogenic		Probably damaging
c.1122G>A	p.Trp374*	nonsense	Yes	-	-	-		Pathogenic	Pathogenic	8.8·10^-06
c.1122G>T	p.Trp374Cys	missense	Yes	-	-	-		Likely pathogenic			Benign
c.1133G>A	p.Ser378Asn	missense	Yes	-	-	-	*	Uncertain significance			Benign
c.1139C>G	p.Pro380Arg	missense	-	Yes	-	-		Uncertain significance		8.8·10^-06	Possibly damaging
c.1146_1168del	p.Pro383Argfs*67	frameshift	-	-	-	-	*	Likely pathogenic
c.1168C>T	p.Arg390*	nonsense	-	Yes	-	-		Pathogenic		8.7·10^-06
c.1177T>C	p.Cys393Arg	missense	Yes	-	-	-		Likely pathogenic			Probably damaging
c.1179C>A	p.Cys393*	nonsense	Yes	-	-	-		Pathogenic
c.1181_1182insT	p.Gln394Hisfs*64	frameshift	Yes	-	-	Yes	*	Pathogenic
c.1183T>C	p.Cys395Arg	missense	Yes	-	Yes	Yes		Pathogenic			Probably damaging
c.1189_1190dup	p.His398Alafs*23	frameshift	Yes	-	Yes	Yes	*	Pathogenic
c.1220G>A	p.Cys407Tyr	missense	Yes	-	-	Yes		Likely pathogenic			Probably damaging
c.1226C>A	p.Pro409His	missense	Yes	-	-	Yes		Likely pathogenic			Probably damaging
c.1228C>T	p.Arg410Trp	missense	Yes	-	-	Yes		Likely pathogenic		5.1·10^-05	Probably damaging
c.1229_1230delinsCC	p.Arg410Pro	missense	Yes	-	-	-		Likely pathogenic			Probably damaging
c.1229G>A	p.Arg410Gln	missense	-	Yes	-	Yes		Uncertain significance		5.2·10^-04	Possibly damaging
c.1243G>A	p.Ala415Thr	missense	Yes	-	Yes	Yes		Likely pathogenic			Probably damaging
c.1246C>T	p.Gln416*	nonsense	Yes	-	-	Yes		Pathogenic	Pathogenic	8.5·10^-06
c.1259C>T	p.Thr420Ile	missense	Yes	-	-	-	*	Uncertain significance			Possibly damaging
c.1283G>A	p.Trp428*	nonsense	-	-	-	-		Pathogenic
c.1284G>A	p.Trp428*	nonsense	-	-	-	-		Pathogenic
c.1284G>C	p.Trp428Cys	missense	Yes	-	-	-		Uncertain significance			Probably damaging
c.1286G>A	p.Gly429Glu	missense	Yes	-	-	Yes		Likely pathogenic	Pathogenic		Probably damaging
c.1288dup	p.Asp430Glyfs*28	frameshift	Yes	-	Yes	Yes		Pathogenic
c.1288G>A	p.Asp430Asn	missense	Yes	-	-	Yes		Likely pathogenic			Probably damaging
c.1288G>T	p.Asp430Tyr	missense	Yes	-	Yes	Yes		Likely pathogenic			Probably damaging
c.1297A>C	p.Thr433Pro	missense	-	-	-	-		Uncertain significance			Probably damaging
c.1304C>T	p.Thr435Met	missense	Yes	-	Yes	Yes		Pathogenic	Pathogenic	1.7·10^-05	Probably damaging
c.1310C>T	p.Ala437Val	missense	-	Yes	-	Yes		Uncertain significance	Conflicting interpretations pathogenicity	8.1·10^-04	Probably damaging
c.1313A>G	p.Tyr438Cys	missense	-	-	-	-		Uncertain significance	Uncertain significance	8.3·10^-06	Probably damaging
c.1314T>A	p.Tyr438*	nonsense	Yes	-	-	-		Pathogenic
c.1326_1328del	p.Phe443del	in-frame deletion	Yes	-	-	-		Likely pathogenic
c.1337A>C	p.Gln446Pro	missense	Yes	-	Yes	Yes		Likely pathogenic	Likely pathogenic	8.3·10^-06	Possibly damaging
c.1337A>G	p.Gln446Arg	missense	-	-	-	-		Uncertain significance			Benign
c.1349C>T	p.Thr450Met	missense	Yes	Yes	Yes	Yes		Pathogenic	Likely pathogenic	5.0·10^-05	Probably damaging
c.1361G>A	p.Trp454*	nonsense	-	-	-	-		Pathogenic
c.1376C>T	p.Pro459Leu	missense	Yes	-	Yes	Yes		Uncertain significance			Probably damaging
c.1385C>A	p.Ser462*	nonsense	Yes	-	-	Yes		Pathogenic	Pathogenic
c.1419del	p.Thr474Glnfs*5	frameshift	Yes	-	-	-		Likely pathogenic
c.1423del	p.Leu478*	nonsense	Yes	-	-	-	*	Pathogenic
c.1433T>G	p.Leu478Arg	missense	Yes	-	-	-		Likely pathogenic			Probably damaging
c.1442A>C	p.Gln481Pro	missense	Yes	Yes	Yes	Yes		Pathogenic		8.2·10^-06	Probably damaging
c.1450G>A	p.Asp484Asn	missense	Yes	-	-	-	*	Likely pathogenic		8.2·10^-06	Probably damaging
c.1450G>T	p.Asp484Tyr	missense	Yes	-	-	-		Likely pathogenic			Probably damaging
c.1451del	p.Asp484Valfs*25	frameshift	Yes	-	-	Yes	*	Pathogenic
c.1465A>T	p.Arg489Trp	missense	-	Yes	-	-		Uncertain significance			Benign
c.1471G>A	p.Asp491Asn	missense	Yes	Yes	Yes	Yes		Likely pathogenic			Probably damaging
c.1491T>A	p.Cys497*	nonsense	Yes	-	-	-		Pathogenic
c.1519G>T	p.Glu507*	nonsense	-	Yes	-	Yes		Pathogenic		1.6·10^-05
c.1535T>G	p.Leu512Arg	missense	Yes	-	-	-		Likely pathogenic			Probably damaging
c.1568C>A	p.Ala523Asp	missense	Yes	-	-	-		Uncertain significance			Probably damaging
c.1574_1575del	p.Cys525Phefs*60	frameshift	-	Yes	-	Yes	*	Pathogenic
c.1574G>C	p.Cys525Ser	missense	-	-	-	-		Uncertain significance			Probably damaging
c.1577del	p.Leu526Cysfs*87	frameshift	Yes	-	-	-	*	Likely pathogenic
c.1628dup	p.Glu545Glyfs*41	frameshift	Yes	-	-	Yes	*	Pathogenic
c.1637del	p.Pro546Leufs*67	frameshift	Yes	-	-	Yes	*	Pathogenic

Genetic Variant^a	Protein Variant^b	Variant type	Biallelic^c	Monoallelic^d	Described >1 patient	Functional studies^e	Bibliography^f	ACMG Classification^g
c.1A>G	p.Met1Val	missense	Yes	-	Yes	Yes		Pathogenic
c.3G>A	p.Met1Ile	missense	Yes	-	-	-		Pathogenic
c.10C>T	p.Arg4Cys	missense	Yes	Yes	Yes	-		Uncertain significance
c.35_46del	p.Leu12_Leu15del	in-frame deletion	Yes	-	-	-		Uncertain significance
c.46C>T	p.Pro16Ser	missense	Yes	-	-	-		Uncertain significance
c.50del	p.Leu17Argfs*34	frameshift	Yes	-	Yes	Yes	*	Pathogenic
c.65C>T	p.Pro22Leu	missense	-	Yes	-	-		Uncertain significance
c.65del	p.Pro22Argfs*29	frameshift	Yes	-	Yes	-	*	Pathogenic
c.82C>T	p.Arg28Cys	missense	Yes	-	-	Yes		Uncertain significance
c.83G>A	p.Arg28His	missense	-	Yes	Yes	-		Uncertain significance
c.91T>G	p.Cys31Gly	missense	Yes	-	Yes	Yes		Pathogenic
c.93C>G	p.Cys31Trp	missense	Yes	-	Yes	Yes		Pathogenic
c.98G>A	p.Arg33His	missense	Yes	-	Yes	-		Uncertain significance
c.112G>A	p.Val38Met	missense	Yes	-	-	-		Likely pathogenic
c.116C>A	p.Pro39His	missense	Yes	-	-	Yes		Pathogenic
c.133G>A	p.Gly45Arg	missense	Yes	-	-	Yes		Pathogenic
c.134G>A	p.Gly45Glu	missense	Yes	-	-	Yes		Pathogenic
c.136G>A	p.Glu46Lys	missense	Yes	-	-	Yes		Likely pathogenic
c.136G>T	p.Glu46*	nonsense	Yes	-	Yes	Yes		Pathogenic
c.140G>T	p.Gly47Val	missense	Yes	-	Yes	Yes		Likely pathogenic
c.145G>A	p.Asp49Asn	missense	Yes	-	-	Yes		Pathogenic
c.148G>A	p.Val50Met	missense	Yes	-	Yes	Yes		Likely pathogenic
c.148G>C	p.Val50Leu	missense	-	Yes	-	-		Likely pathogenic
c.150del	p.Thr51Profs*56	frameshift	-	-	-	-	*	Pathogenic
c.160C>T	p.Arg54Cys	missense	Yes	-	Yes	Yes		Pathogenic
c.163C>T	p.Arg55Cys	missense	-	-	-	-		Likely pathogenic
c.172T>C	p.Ser58Pro	missense	Yes	-	-	-		Uncertain significance
c.185_195del	p.Asp62Valfs*12	frameshift	Yes	-	-	-	*	Pathogenic
c.190C>T	p.Gln64*	nonsense	Yes	-	-	-		Pathogenic
c.207del	p.Asp70Thrfs*37	frameshift	Yes	-	Yes	Yes	*	Pathogenic
c.208G>T	p.Asp70Tyr	missense	Yes	-	-	Yes		Pathogenic
c.209A>T	p.Asp70Val	missense	-	-	-	-		Likely pathogenic
c.214A>C	p.Thr72Pro	missense	Yes	-	-	-		Likely pathogenic
c.217T>C	p.Cys73Arg	missense	Yes	-	-	Yes		Pathogenic
c.218G>A	p.Cys73Tyr	missense	Yes	-	-	-		Likely pathogenic
c.218G>C	p.Cys73Ser	missense	Yes	-	-	-		Likely pathogenic
c.227G>A	p.Cys76Tyr	missense	Yes	-	Yes	-		Likely pathogenic
c.265C>A	p.Pro89Thr	missense	Yes	-	Yes	-		Likely pathogenic
c.266C>T	p.Pro89Leu	missense	Yes	-	-	-		Likely pathogenic
c.272C>T	p.Ala91Val	missense	Yes	Yes	Yes	Yes		Uncertain significance
c.283T>C	p.Trp95Arg	missense	Yes	-	-	Yes	*	Pathogenic
c.284G>A	p.Trp95*	nonsense	Yes	-	-	-		Pathogenic
c.285G>T	p.Trp95Cys	missense	Yes	-	-	Yes		Pathogenic
c.286C>G	p.Arg96Gly	missense	Yes	-	-	-	*	Likely pathogenic
c.305G>T	p.Cys102Phe	missense	-	Yes	Yes	-		Likely pathogenic
c.307_308insA	p.Arg104Alafs*12	frameshift	Yes	-	-	Yes	*	Likely pathogenic
c.350_356delinsATGC	p.Val117Aspfs*439	frameshift	Yes	-	-	Yes	*	Pathogenic
c.355C>T	p.Arg119Trp	missense	Yes	-	Yes	Yes		Pathogenic
c.380A>G	p.Asn127Ser	missense	Yes	-	-	-		Likely pathogenic
c.382G>A	p.Asp128Asn	missense	Yes	-	-	Yes	*	Uncertain significance
c.382G>T	p.Asp128Tyr	missense	Yes	-	-	Yes		Pathogenic
c.386G>C	p.Trp129Ser	missense	Yes	Yes	Yes	-		Likely pathogenic
c.394G>A	p.Gly132Arg	missense	Yes	-	Yes	Yes		Pathogenic
c.422G>T	p.Ser141Ile	missense	-	Yes	-	-	*	Uncertain significance
c.443C>A	p.Ala148Asp	missense	Yes	-	-	Yes		Pathogenic
c.443C>G	p.Ala148Gly	missense	Yes	-	-	-		Likely pathogenic
c.443C>T	p.Ala148Val	missense	Yes	-	Yes	-	*	Likely pathogenic
c.445G>A	p.Gly149Ser	missense	Yes	-	-	Yes		Likely pathogenic
c.445G>C	p.Gly149Arg	missense	Yes	-	Yes	Yes		Pathogenic
c.449C>A	p.Ser150*	nonsense	Yes	-	-	Yes		Pathogenic
c.452A>T	p.His151Leu	missense	Yes	-	-	-		Likely pathogenic
c.469T>G	p.Phe157Val	missense	Yes	-	-	Yes		Pathogenic
c.490C>T	p.Gln164*	nonsense	Yes	-	Yes	Yes		Pathogenic
c.503G>A	p.Ser168Asn	missense	-	-	-	-	*	Uncertain significance
c.508A>C	p.Ser170Arg	missense	Yes	-	-	Yes		Pathogenic
c.510_510del	p.Ser170Argfs*89	frameshift	Yes	-	-	Yes		Likely pathogenic
c.512C>A	p.Thr171Asn	missense	Yes	-	-	Yes		Likely pathogenic
c.527G>A	p.Cys176Tyr	missense	Yes	-	-	-		Likely pathogenic
c.528_529delinsAA	p.Cys176*	nonsense	Yes	-	Yes	Yes	*	Pathogenic
c.530G>A	p.Arg177His	missense	-	Yes	-	-		Uncertain significance
c.536_537insC	p.Ser180Glnfs*13	frameshift	Yes	-	-	-	*	-
c.548T>G	p.Val183Gly	missense	Yes	-	-	Yes		Pathogenic
c.563C>T	p.Pro188Leu	missense	Yes	-	-	Yes		Likely pathogenic
c.577T>C	p.Phe193Leu	missense	Yes	-	-	Yes		Pathogenic
c.590T>G	p.Leu197Arg	missense	Yes	-	-	Yes		Pathogenic
c.601C>A	p.Pro201Thr	missense	Yes	-	Yes	Yes		Pathogenic
c.614A>G	p.Asn205Ser	missense	Yes	-	-	Yes		Pathogenic
c.626A>C	p.Gln209Pro	missense	Yes	-	-	-		Uncertain significance
c.626A>G	p.Gln209Arg	missense	Yes	-	-	-	*	Uncertain significance
c.632C>T	p.Ala211Val	missense	-	Yes	Yes	-		Likely benign
c.635A>C	p.Tyr212Ser	missense	Yes	-	-	-		Likely pathogenic
c.643C>A	p.Leu215Ile	missense	Yes	-	-	Yes		Pathogenic
c.647T>C	p.Ile216Thr	missense	Yes	-	-	Yes		Likely pathogenic
c.655T>A	p.Tyr219Asn	missense	-	Yes	-	Yes		Likely pathogenic
c.657C>A	p.Tyr219*	nonsense	Yes	-	-	-		Pathogenic
c.658G>A	p.Gly220Ser	missense	Yes	-	Yes	Yes		Pathogenic
c.658G>C	p.Gly220Arg	missense	Yes	-	-	Yes		Pathogenic
c.659G>A	p.Gly220Asp	missense	Yes	-	-	-		Pathogenic
c.662C>T	p.Thr221Ile	missense	Yes	-	-	Yes		Pathogenic
c.665A>G	p.His222Arg	missense	Yes	Yes	Yes	Yes		Pathogenic
c.666C>A	p.His222Gln	missense	Yes	-	Yes	Yes		Pathogenic
c.671T>A	p.Ile224Asn	missense	Yes	-	Yes	-		Likely pathogenic
c.673C>T	p.Arg225Trp	missense	Yes	-	Yes	Yes		Pathogenic
c.674G>C	p.Arg225Pro	missense	Yes	-	Yes	Yes		Pathogenic
c.694C>T	p.Arg232Cys	missense	Yes	-	Yes	Yes		Pathogenic
c.695G>A	p.Arg232His	missense	Yes	-	-	Yes		Uncertain significance
c.718C>G	p.Arg240Gly	missense	Yes	-	-	-		Likely pathogenic
c.727G>T	p.Glu243*	nonsense	Yes	-	-	Yes		Pathogenic
c.755A>G	p.Asn252Ser	missense	Yes	Yes	Yes	Yes		Uncertain significance
c.757G>A	p.Glu253Lys	missense	Yes	-	Yes	Yes		Likely pathogenic
c.771C>A	p.Cys257*	nonsense	Yes	-	-	Yes		Pathogenic
c.781G>A	p.Glu261Lys	missense	Yes	-	Yes	Yes		Pathogenic
c.785C>A	p.Ala262Asp	missense	Yes	-	-	Yes		Pathogenic
c.785C>T	p.Ala262Val	missense	Yes	-	-	Yes		Pathogenic
c.786_801del	p.Gln263Serfs*21	frameshift	Yes	-	-	-	*	Pathogenic
c.797T>C	p.Ile266Thr	missense	Yes	-	-	Yes		Likely pathogenic
c.833C>A	p.Ala278Asp	missense	-	Yes	Yes	Yes		Likely pathogenic
c.836G>A	p.Cys279Tyr	missense	Yes	-	-	Yes		Pathogenic
c.851_862del	p.Lys284_Lys287del	in-frame deletion	Yes	-	-	Yes	*	Likely pathogenic
c.853_855del	p.Lys285del	in-frame deletion	Yes	-	Yes	Yes	*	Likely pathogenic
c.879del	p.Gln294Lysfs*36	frameshift	Yes	-	-	-	*	Pathogenic
c.886T>C	p.Tyr296His	missense	Yes	-	Yes	Yes		Pathogenic
c.893A>G	p.Glu298Gly	missense	Yes	-	-	Yes		Pathogenic
c.895C>A	p.Arg299Ser	missense	Yes	-	-	Yes		Pathogenic
c.895C>T	p.Arg299Cys	missense	Yes	-	-	-		Likely pathogenic
c.902C>A	p.Ser301*	nonsense	Yes	-	-	-		Pathogenic
c.904G>T	p.Glu302*	nonsense	Yes	-	-	-		Pathogenic
c.913G>A	p.Gly305Ser	missense	-	Yes	-	Yes		Likely pathogenic
c.916G>A	p.Gly306Ser	missense	Yes	-	Yes	Yes		Likely pathogenic
c.916G>T	p.Gly306Cys	missense	Yes	-	Yes	Yes		Pathogenic
c.921del	p.His308Thrfs*22	frameshift	Yes	Yes	-	-	*	Pathogenic
c.937G>A	p.Asp313Asn	missense	Yes	-	-	-	*	Likely pathogenic
c.938A>T	p.Asp313Val	missense	Yes	-	-	-		Likely pathogenic
c.941_948delinsA	p.Leu314Glnfs*14	frameshift	Yes	-	-	Yes	*	Pathogenic
c.949G>A	p.Gly317Arg	missense	Yes	-	-	-		Likely pathogenic
c.973T>C	p.Tyr325His	missense	Yes	-	-	-		Likely pathogenic
c.984G>A	p.Trp328*	nonsense	Yes	-	-	-	*	Pathogenic
c.985dup	p.Val329Glyfs*129	frameshift	Yes	-	-	-	*	Pathogenic
c.992C>T	p.Ser331Leu	missense	-	Yes	-	Yes		Likely pathogenic
c.1000G>A	p.Gly334Ser	missense	-	-	-	-		Uncertain significance
c.1005C>A	p.Ser335Arg	missense	-	Yes	-	-		Uncertain significance
c.1018G>A	p.Asp340Asn	missense	Yes	-	Yes	Yes		Pathogenic
c.1034C>G	p.Pro345Arg	missense	Yes	-	-	-		Likely pathogenic
c.1034C>T	p.Pro345Leu	missense	Yes	-	-	-		Likely pathogenic
c.1042G>A	p.Val348Met	missense	Yes	Yes	Yes	-		Uncertain significance
c.1066C>T	p.Arg356Trp	missense	Yes	-	-	Yes		Pathogenic
c.1070G>C	p.Arg357Pro	missense	Yes	-	-	-		Likely pathogenic
c.1081A>T	p.Arg361Trp	missense	Yes	-	Yes	Yes		Pathogenic
c.1083_1094del	p.Arg361_Leu364del	in-frame deletion	Yes	-	-	-	*	Likely pathogenic
c.1083del	p.Arg362Glyfs*3	frameshift	Yes	-	-	-	*	Pathogenic
c.1090_1091del	p.Leu364Glufs*93	frameshift	Yes	-	Yes	-	*	Pathogenic
c.1091T>G	p.Leu364Arg	missense	Yes	-	-	Yes		Pathogenic
c.1099T>C	p.Tyr367His	missense	Yes	-	-	Yes		Pathogenic
c.1117C>T	p.Arg373Cys	missense	Yes	-	Yes	-		Likely pathogenic
c.1120T>G	p.Trp374Gly	missense	Yes	-	-	-		Likely pathogenic
c.1122G>A	p.Trp374*	nonsense	Yes	-	-	-		Pathogenic
c.1122G>T	p.Trp374Cys	missense	Yes	-	-	-		Likely pathogenic
c.1133G>A	p.Ser378Asn	missense	Yes	-	-	-	*	Uncertain significance
c.1139C>G	p.Pro380Arg	missense	-	Yes	-	-		Uncertain significance
c.1146_1168del	p.Pro383Argfs*67	frameshift	-	-	-	-	*	Likely pathogenic
c.1168C>T	p.Arg390*	nonsense	-	Yes	-	-		Pathogenic
c.1177T>C	p.Cys393Arg	missense	Yes	-	-	-		Likely pathogenic
c.1179C>A	p.Cys393*	nonsense	Yes	-	-	-		Pathogenic
c.1181_1182insT	p.Gln394Hisfs*64	frameshift	Yes	-	-	Yes	*	Pathogenic
c.1183T>C	p.Cys395Arg	missense	Yes	-	Yes	Yes		Pathogenic
c.1189_1190dup	p.His398Alafs*23	frameshift	Yes	-	Yes	Yes	*	Pathogenic
c.1220G>A	p.Cys407Tyr	missense	Yes	-	-	Yes		Likely pathogenic
c.1226C>A	p.Pro409His	missense	Yes	-	-	Yes		Likely pathogenic
c.1228C>T	p.Arg410Trp	missense	Yes	-	-	Yes		Likely pathogenic
c.1229_1230delinsCC	p.Arg410Pro	missense	Yes	-	-	-		Likely pathogenic
c.1229G>A	p.Arg410Gln	missense	-	Yes	-	Yes		Uncertain significance
c.1243G>A	p.Ala415Thr	missense	Yes	-	Yes	Yes		Likely pathogenic
c.1246C>T	p.Gln416*	nonsense	Yes	-	-	Yes		Pathogenic
c.1259C>T	p.Thr420Ile	missense	Yes	-	-	-	*	Uncertain significance
c.1283G>A	p.Trp428*	nonsense	-	-	-	-		Pathogenic
c.1284G>A	p.Trp428*	nonsense	-	-	-	-		Pathogenic
c.1284G>C	p.Trp428Cys	missense	Yes	-	-	-		Uncertain significance
c.1286G>A	p.Gly429Glu	missense	Yes	-	-	Yes		Likely pathogenic
c.1288dup	p.Asp430Glyfs*28	frameshift	Yes	-	Yes	Yes		Pathogenic
c.1288G>A	p.Asp430Asn	missense	Yes	-	-	Yes		Likely pathogenic
c.1288G>T	p.Asp430Tyr	missense	Yes	-	Yes	Yes		Likely pathogenic
c.1297A>C	p.Thr433Pro	missense	-	-	-	-		Uncertain significance
c.1304C>T	p.Thr435Met	missense	Yes	-	Yes	Yes		Pathogenic
c.1310C>T	p.Ala437Val	missense	-	Yes	-	Yes		Uncertain significance
c.1313A>G	p.Tyr438Cys	missense	-	-	-	-		Uncertain significance
c.1314T>A	p.Tyr438*	nonsense	Yes	-	-	-		Pathogenic
c.1326_1328del	p.Phe443del	in-frame deletion	Yes	-	-	-		Likely pathogenic
c.1337A>C	p.Gln446Pro	missense	Yes	-	Yes	Yes		Likely pathogenic
c.1337A>G	p.Gln446Arg	missense	-	-	-	-		Uncertain significance
c.1349C>T	p.Thr450Met	missense	Yes	Yes	Yes	Yes		Pathogenic
c.1361G>A	p.Trp454*	nonsense	-	-	-	-		Pathogenic
c.1376C>T	p.Pro459Leu	missense	Yes	-	Yes	Yes		Uncertain significance
c.1385C>A	p.Ser462*	nonsense	Yes	-	-	Yes		Pathogenic
c.1419del	p.Thr474Glnfs*5	frameshift	Yes	-	-	-		Likely pathogenic
c.1423del	p.Leu478*	nonsense	Yes	-	-	-	*	Pathogenic
c.1433T>G	p.Leu478Arg	missense	Yes	-	-	-		Likely pathogenic
c.1442A>C	p.Gln481Pro	missense	Yes	Yes	Yes	Yes		Pathogenic
c.1450G>A	p.Asp484Asn	missense	Yes	-	-	-	*	Likely pathogenic
c.1450G>T	p.Asp484Tyr	missense	Yes	-	-	-		Likely pathogenic
c.1451del	p.Asp484Valfs*25	frameshift	Yes	-	-	Yes	*	Pathogenic
c.1465A>T	p.Arg489Trp	missense	-	Yes	-	-		Uncertain significance
c.1471G>A	p.Asp491Asn	missense	Yes	Yes	Yes	Yes		Likely pathogenic
c.1491T>A	p.Cys497*	nonsense	Yes	-	-	-		Pathogenic
c.1519G>T	p.Glu507*	nonsense	-	Yes	-	Yes		Pathogenic
c.1535T>G	p.Leu512Arg	missense	Yes	-	-	-		Likely pathogenic
c.1568C>A	p.Ala523Asp	missense	Yes	-	-	-		Uncertain significance
c.1574_1575del	p.Cys525Phefs*60	frameshift	-	Yes	-	Yes	*	Pathogenic
c.1574G>C	p.Cys525Ser	missense	-	-	-	-		Uncertain significance
c.1577del	p.Leu526Cysfs*87	frameshift	Yes	-	-	-	*	Likely pathogenic
c.1628dup	p.Glu545Glyfs*41	frameshift	Yes	-	-	Yes	*	Pathogenic
c.1637del	p.Pro546Leufs*67	frameshift	Yes	-	-	Yes	*	Pathogenic

^aThe coding DNA reference sequence of genetic variants (c.) is the CDS of ENST00000441259.2, which is equivalent to that of NM_001083116.3.
^bThe protein reference sequence used of protein variants (p.) is ENSP00000398568.1, which is equivalent to NP_001076585.1.
^cBiallelic variants include both homozygous and compound heterozygous variants.
^dMonoallelic variants include variants found in one allele. Caution must be exercised in evaluating the role of monoallelic variants since FHL caused by mutations in PRF1 is essentially an autosomal recessive disease. Most monoallelic variants reported in FHL are not proven to be disease causing by itself but may represent susceptibility in genetic predisposition to FHL.
^eFunctional studies mean that one or more assays (e.g. Western blot, RNA studies, flow cytometry, etc.) have been done to evaluate the functional impact of the variant.
^fBibliography marked with "*" may contain the variant in a different format. Here, we show the variant following the HGVS guidelines.
^gGenetic variants have been classified as pathogenic, likely pathogenic, uncertain significance, likely benign or benign, according to the American College of Medical Genetics (ACMG) guidelines.
- means no supporting information was found.

Disclaimer: The information on this database is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. The authors are not responsible for neither its use nor misuse. The authors have worked with care in the development of this server, but assume no liability or responsibility for any error, weakness, incompleteness or temporariness of the resource and of the data provided.