Gene	Genetic Variant	Protein Variant	Variant type	Biallelic	Monoallelic	Described >1 patient	Functional studies	Bibliography
PRF1	c.1A>G	p.Met1Val	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/12716377, https://www.ncbi.nlm.nih.gov/pubmed/26199792
PRF1	c.3G>A	p.Met1Ile	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/12060139
PRF1	c.10C>T	p.Arg4Cys	missense	Yes	Yes	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/19863536, https://www.ncbi.nlm.nih.gov/pubmed/21881043, https://www.ncbi.nlm.nih.gov/pubmed/24916509
PRF1	c.50del	p.Leu17Argfs*34	frameshift	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/10583959
PRF1	c.65del	p.Pro22Argfs*29	frameshift	Yes	-	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/21600143, https://www.ncbi.nlm.nih.gov/pubmed/25104007
PRF1	c.83G>A	p.Arg28His	missense	-	Yes	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/21674762
PRF1	c.91T>G	p.Cys31Gly	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/25577959
PRF1	c.93C>G	p.Cys31Trp	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/21674762, https://www.ncbi.nlm.nih.gov/pubmed/25577959
PRF1	c.98G>A	p.Arg33His	missense	Yes	-	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/21881043
PRF1	c.112G>A	p.Val38Met	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/16278825
PRF1	c.116C>A	p.Pro39His	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/11756153, https://www.ncbi.nlm.nih.gov/pubmed/19487666
PRF1	c.133G>A	p.Gly45Arg	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/11756153
PRF1	c.134G>A	p.Gly45Glu	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/14757862, https://www.ncbi.nlm.nih.gov/pubmed/15755897
PRF1	c.136G>T	p.Glu46*	nonsense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/17328077, https://www.ncbi.nlm.nih.gov/pubmed/28936583
PRF1	c.140G>T	p.Gly47Val	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/25975970
PRF1	c.145G>A	p.Asp49Asn	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/22186995
PRF1	c.148G>A	p.Val50Met	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/11179007
PRF1	c.148G>C	p.Val50Leu	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/27033761
PRF1	c.150del	p.Thr51Profs*56	frameshift	-	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/17873118
PRF1	c.160C>T	p.Arg54Cys	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/14757862, https://www.ncbi.nlm.nih.gov/pubmed/11756153
PRF1	c.185_195del	p.Asp62Valfs*12	frameshift	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/16278825
PRF1	c.190C>T	p.Gln64*	nonsense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/10583959
PRF1	c.207del	p.Asp70Thrfs*37	frameshift	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/11841437
PRF1	c.208G>T	p.Asp70Tyr	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/14757862
PRF1	c.209A>T	p.Asp70Val	missense	-	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/17873118
PRF1	c.214A>C	p.Thr72Pro	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/28248119
PRF1	c.217T>C	p.Cys73Arg	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/14757862, https://www.ncbi.nlm.nih.gov/pubmed/15755897
PRF1	c.218G>A	p.Cys73Tyr	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/31388699
PRF1	c.265C>A	p.Pro89Thr	missense	Yes	-	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/14578030, https://www.ncbi.nlm.nih.gov/pubmed/17674359
PRF1	c.272C>T	p.Ala91Val	missense	Yes	Yes	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/12060139, https://www.ncbi.nlm.nih.gov/pubmed/12229880, https://www.ncbi.nlm.nih.gov/pubmed/27622035
PRF1	c.283T>C	p.Trp95Arg	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/11565555, https://www.ncbi.nlm.nih.gov/pubmed/15755897
PRF1	c.284G>A	p.Trp95*	nonsense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/28353193
PRF1	c.285G>T	p.Trp95Cys	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26450956
PRF1	c.305G>T	p.Cys102Phe	missense	-	Yes	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/20092789
PRF1	c.350_356delinsATGC	p.Val117Aspfs*439	frameshift	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26450956
PRF1	c.355C>T	p.Arg119Trp	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/17328077, https://www.ncbi.nlm.nih.gov/pubmed/28936583
PRF1	c.382G>T	p.Asp128Tyr	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26450956
PRF1	c.386G>C	p.Trp129Ser	missense	Yes	Yes	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/22186995, https://www.ncbi.nlm.nih.gov/pubmed/25577959
PRF1	c.394G>A	p.Gly132Arg	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/21600143, https://www.ncbi.nlm.nih.gov/pubmed/26184781
PRF1	c.443C>A	p.Ala148Asp	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26450956
PRF1	c.445G>C	p.Gly149Arg	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/17873118
PRF1	c.445G>A	p.Gly149Ser	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/11756153, https://www.ncbi.nlm.nih.gov/pubmed/19487666
PRF1	c.449C>A	p.Ser150*	nonsense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/14757862
PRF1	c.452A>T	p.His151Leu	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/22970278
PRF1	c.469T>G	p.Phe157Val	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/14757862
PRF1	c.490C>T	p.Gln164*	nonsense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/25577959
PRF1	c.503G>A	p.Ser168Asn	missense	-	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/20092789
PRF1	c.508A>C	p.Ser170Arg	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/17715280
PRF1	c.512C>A	p.Thr171Asn	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26450956
PRF1	c.528_529delinsAA	p.Cys176*	nonsense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/25577959
PRF1	c.548T>G	p.Val183Gly	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/10583959
PRF1	c.563C>T	p.Pro188Leu	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/21881043
PRF1	c.577T>C	p.Phe193Leu	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/14576041, https://www.ncbi.nlm.nih.gov/pubmed/19487666
PRF1	c.590T>G	p.Leu197Arg	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26450956
PRF1	c.601C>A	p.Pro201Thr	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/16278825, https://www.ncbi.nlm.nih.gov/pubmed/19487666
PRF1	c.614A>G	p.Asn205Ser	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26450956
PRF1	c.626A>C	p.Gln209Pro	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26450956
PRF1	c.632C>T	p.Ala211Val	missense	-	Yes	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/21674762
PRF1	c.643C>A	p.Leu215Ile	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/15165642, https://www.ncbi.nlm.nih.gov/pubmed/23592409
PRF1	c.655T>A	p.Tyr219Asn	missense	-	Yes	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/24916509
PRF1	c.657C>A	p.Tyr219*	nonsense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/11179007
PRF1	c.658G>A	p.Gly220Ser	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/11565555, https://www.ncbi.nlm.nih.gov/pubmed/15755897, https://www.ncbi.nlm.nih.gov/pubmed/25577959
PRF1	c.658G>C	p.Gly220Arg	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/17873118
PRF1	c.659G>A	p.Gly220Asp	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/26684649
PRF1	c.662C>T	p.Thr221Ile	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/11565555, https://www.ncbi.nlm.nih.gov/pubmed/15755897
PRF1	c.665A>G	p.His222Arg	missense	Yes	Yes	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/14757862, https://www.ncbi.nlm.nih.gov/pubmed/23073042
PRF1	c.666C>A	p.His222Gln	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/14757862, https://www.ncbi.nlm.nih.gov/pubmed/19487666
PRF1	c.671T>A	p.Ile224Asn	missense	Yes	-	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/11179007, https://www.ncbi.nlm.nih.gov/pubmed/17873118
PRF1	c.673C>T	p.Arg225Trp	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/10583959
PRF1	c.674G>C	p.Arg225Pro	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/17674359
PRF1	c.694C>T	p.Arg232Cys	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/11565555, https://www.ncbi.nlm.nih.gov/pubmed/15755897
PRF1	c.695G>A	p.Arg232His	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/17477373, https://www.ncbi.nlm.nih.gov/pubmed/14739222
PRF1	c.718C>G	p.Arg240Gly	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/16278825
PRF1	c.727G>T	p.Glu243*	nonsense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/17715280
PRF1	c.755A>G	p.Asn252Ser	missense	Yes	Yes	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/10583959, https://www.ncbi.nlm.nih.gov/pubmed/15755897, https://www.ncbi.nlm.nih.gov/pubmed/23592409
PRF1	c.757G>A	p.Glu253Lys	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/17356398, https://www.ncbi.nlm.nih.gov/pubmed/21959744
PRF1	c.781G>A	p.Glu261Lys	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/12060139
PRF1	c.785C>A	p.Ala262Asp	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/15165642, https://www.ncbi.nlm.nih.gov/pubmed/23592409
PRF1	c.785C>T	p.Ala262Val	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26450956
PRF1	c.786_801del	p.Gln263Serfs*21	frameshift	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/16278825
PRF1	c.797T>C	p.Ile266Thr	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26184781
PRF1	c.833C>A	p.Ala278Asp	missense	-	Yes	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/25577959
PRF1	c.836G>A	p.Cys279Tyr	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/10583959
PRF1	c.851_862del	p.Lys284_Lys287del	in-frame deletion	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/15609274
PRF1	c.853_855del	p.Lys285del	in-frame deletion	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/11179007, https://www.ncbi.nlm.nih.gov/pubmed/28936583, https://www.ncbi.nlm.nih.gov/pubmed/19487666
PRF1	c.879del	p.Gln294Lysfs*36	frameshift	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/23160464
PRF1	c.886T>C	p.Tyr296His	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26450956
PRF1	c.893A>G	p.Glu298Gly	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/17873118, https://www.ncbi.nlm.nih.gov/pubmed/23592409
PRF1	c.895C>A	p.Arg299Ser	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26450956
PRF1	c.895C>T	p.Arg299Cys	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/14757862
PRF1	c.902C>A	p.Ser301*	nonsense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/18799942
PRF1	c.916G>A	p.Gly306Ser	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/17606450, https://www.ncbi.nlm.nih.gov/pubmed/26739415
PRF1	c.916G>T	p.Gly306Cys	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/15840696
PRF1	c.938A>T	p.Asp313Val	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/14757862
PRF1	c.941_948delinsA	p.Leu314Glnfs*14	frameshift	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26450956
PRF1	c.949G>A	p.Gly317Arg	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/12716377, https://www.ncbi.nlm.nih.gov/pubmed/19487666
PRF1	c.992C>T	p.Ser331Leu	missense	-	Yes	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/24916509
PRF1	c.1000G>A	p.Gly334Ser	missense	-	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/19484379
PRF1	c.1018G>A	p.Asp340Asn	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/25577959
PRF1	c.1034C>G	p.Pro345Arg	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/28750028
PRF1	c.1034C>T	p.Pro345Leu	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/10583959
PRF1	c.1042G>A	p.Val348Met	missense	Yes	Yes	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/21881043, https://www.ncbi.nlm.nih.gov/pubmed/28353193
PRF1	c.1066C>T	p.Arg356Trp	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/17873118, https://www.ncbi.nlm.nih.gov/pubmed/19487666
PRF1	c.1081A>T	p.Arg361Trp	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/14757862
PRF1	c.1083del	p.Arg362Glyfs*3	frameshift	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/11841437
PRF1	c.1090_1091del	p.Leu364Glufs*93	frameshift	Yes	-	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/11841437
PRF1	c.1091T>G	p.Leu364Arg	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/28029005
PRF1	c.1099T>C	p.Tyr367His	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/22970278
PRF1	c.1120T>G	p.Trp374Gly	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/28468610
PRF1	c.1122G>A	p.Trp374*	nonsense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/10583959
PRF1	c.1122G>T	p.Trp374Cys	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/25901543
PRF1	c.1146_1168del	p.Pro383Argfs*67	frameshift	-	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/21600143
PRF1	c.1168C>T	p.Arg390*	nonsense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/17601962
PRF1	c.1177T>C	p.Cys393Arg	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/21418834
PRF1	c.1179C>A	p.Cys393*	nonsense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/26684649
PRF1	c.1181_1182insT	p.Gln394Hisfs*64	frameshift	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/11565555
PRF1	c.1183T>C	p.Cys395Arg	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/25577959
PRF1	c.1189_1190dup	p.His398Alafs*23	frameshift	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/15840696
PRF1	c.1220G>A	p.Cys407Tyr	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/28936583
PRF1	c.1226C>A	p.Pro409His	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26450956
PRF1	c.1228C>T	p.Arg410Trp	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/17266056
PRF1	c.1229G>A	p.Arg410Gln	missense	-	Yes	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/21881043
PRF1	c.1243G>A	p.Ala415Thr	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/25577959
PRF1	c.1246C>T	p.Gln416*	nonsense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/12716377
PRF1	c.1283G>A	p.Trp428*	nonsense	-	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/19484379
PRF1	c.1284G>C	p.Trp428Cys	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/25901543
PRF1	c.1284G>A	p.Trp428*	nonsense	-	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/17873118
PRF1	c.1286G>A	p.Gly429Glu	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/10583959
PRF1	c.1288dup	p.Asp430Glyfs*28	frameshift	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/16443553, https://www.ncbi.nlm.nih.gov/pubmed/25577959
PRF1	c.1288G>A	p.Asp430Asn	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/28936583
PRF1	c.1288G>T	p.Asp430Tyr	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/17525286, https://www.ncbi.nlm.nih.gov/pubmed/23592409
PRF1	c.1297A>C	p.Thr433Pro	missense	-	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/22186995
PRF1	c.1304C>T	p.Thr435Met	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/12599189, https://www.ncbi.nlm.nih.gov/pubmed/19487666
PRF1	c.1310C>T	p.Ala437Val	missense	-	Yes	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/21881043
PRF1	c.1313A>G	p.Tyr438Cys	missense	-	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/18927437
PRF1	c.1314T>A	p.Tyr438*	nonsense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/17873118
PRF1	c.1337A>C	p.Gln446Pro	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26450956
PRF1	c.1337A>G	p.Gln446Arg	missense	-	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/17873118
PRF1	c.1349C>T	p.Thr450Met	missense	Yes	Yes	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/17266056, https://www.ncbi.nlm.nih.gov/pubmed/20092789, https://www.ncbi.nlm.nih.gov/pubmed/19487666
PRF1	c.1361G>A	p.Trp454*	nonsense	-	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/17873118
PRF1	c.1376C>T	p.Pro459Leu	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/15598808
PRF1	c.1385C>A	p.Ser462*	nonsense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26450956
PRF1	c.1423del	p.Leu478*	nonsense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/23160464
PRF1	c.1433T>G	p.Leu478Arg	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/26684649
PRF1	c.1442A>C	p.Gln481Pro	missense	Yes	Yes	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/14757862, https://www.ncbi.nlm.nih.gov/pubmed/19639728
PRF1	c.1450G>T	p.Asp484Tyr	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/28353193
PRF1	c.1450G>A	p.Asp484Asn	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/31388699
PRF1	c.1451del	p.Asp484Valfs*25	frameshift	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/20055781
PRF1	c.1465A>T	p.Arg489Trp	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/27033761
PRF1	c.1471G>A	p.Asp491Asn	missense	Yes	Yes	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/25577959, https://www.ncbi.nlm.nih.gov/pubmed/23592409
PRF1	c.1491T>A	p.Cys497*	nonsense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/11841437
PRF1	c.1535T>G	p.Leu512Arg	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/31388699
PRF1	c.1568C>A	p.Ala523Asp	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/18190960
PRF1	c.1574G>C	p.Cys525Ser	missense	-	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/17873118
PRF1	c.1577del	p.Leu526Cysfs*87	frameshift	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/16278825
PRF1	c.1628dup	p.Glu545Glyfs*41	frameshift	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/14757862
PRF1	c.1637del	p.Pro546Leufs*67	frameshift	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/14757862