Suspected Non-Pathogenic SETBP1 Mutations - SETBP1 Society

Suspected Non-Pathogenic SETBP1 Mutations

Suspected Non-Pathogenic SETBP1 Mutations

SETBP1 protein variant (p.xxx)	SETBP1 Location/Coding DNA c.xxx	Type of mutatin	Frequency in healthy population
p.Arg11Trp	c.31C>T	missense	Rare mutation - Seen in 1 in 40,000 healthy people	11
p.Gly15Asp	c.44G>A	missense	Very rare mutation - Seen in 1 in 80,000 healthy people	15
p.Ser17Ala	c.49T>G	missense	Very rare mutation - Seen in 1 in 80,000 healthy people	17
p.Asp18Glu	c.54C>A	missense	Very rare mutation - Seen in 1 in 90,000 healthy people	18
p.Pro21Leu	c.62C>T	missense	Rare mutation - Seen in 1 in 20,000 healthy people	21
p.Val22Ile	c.64G>A	missense	Rare mutation - Seen in 1 in 15,000 healthy people	22
p.Val22Phe	c.64G>T	missense	Extremely rare mutation - Seen in 1 in 100,000 healthy people	22
p.Val22Asp	c.65T>A	missense	Extremely rare mutation - Seen in 1 in 100,000 healthy people	22
p.Pro27Ser	c.79C>T	missense	Extremely rare mutation - Seen in 1 in 110,000 healthy people	27
p.Ala29Asp	c.86C>A	missense	Extremely rare mutation - Seen in 1 in 110,000 healthy people	29
p.Ala34Ser	c.100G>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	34
p.Gly35Glu	c.104G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	35
p.Glu36Gln	c.106G>C	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	36
p.Gly45Arg	c.133G>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	45
p.Ile48Met	c.144C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	48
p.Pro49Leu	c.146C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	49
p.Pro49Thr	c.145C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	49
p.Val50Met	c.148G>A	missense	Rare mutation - Seen in 1 in 10,000 healthy people	50
p.Gly52Arg	c.154G>A	missense	Rare mutation - Seen in 1 in 40,000 healthy people	52
p.Gly52Glu	c.155G>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	52
p.Arg54Leu	c.161G>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	54
p.Arg54Cys	c.160C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	54
p.Pro57Leu	c.170C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	57
p.Glu62Val	c.185A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	62
p.Gly64Asp	c.191G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	64
p.Arg67Gln	c.200G>A	missense	Rare mutation - Seen in 1 in 15,000 healthy people	67
p.Asp68Glu	c.204T>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	68
p.Val69Gly	c.206T>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	69
p.Asp70Glu	c.210T>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	70
p.Asn72Ser	c.215A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	72
p.Ser73Cys	c.218C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	73
p.Asn74Tyr	c.220A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	74
p.Ala75Thr	c.223G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	75
p.Ala75Val	c.224C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	75
p.Asp84Tyr	c.250G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	84
p.Asn97Asp	c.289A>G	missense	Rare mutation - Seen in 1 in 15,000 healthy people	97
p.Glu100Lys	c.298G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	100
p.Ile107Phe	c.319A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	107
p.Thr109Ala	c.325A>G	missense	Rare mutation - Seen in 1 in 15,000 healthy people	109
p.Lys118Glu	c.352A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	118
p.Asn119Lys	c.357T>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	119
p.Ile124Val	c.370A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	124
p.Pro126Ser	c.376C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	126
p.Ile129Val	c.385A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	129
p.Lys130Arg	c.389A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	130
p.Ile133Val	c.397A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	133
p.Asp138Tyr	c.412G>T	missense	Rare mutation - Seen in 1 in 10,000 healthy people	138
p.Ser142Pro	c.424T>C	missense	Rare mutation - Seen in 1 in 20,000 healthy people	142
p.Arg143His	c.428G>A	missense	Rare mutation - Seen in 1 in 20,000 healthy people	143
p.Gly145Arg	c.433G>A	missense	Rare mutation - Seen in 1 in 15,000 healthy people	145
p.Ser148Asn	c.443G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	148
p.Ala150Thr	c.448G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	150
p.Thr151Met	c.452C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	151
p.Lys152Gln	c.454A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	152
p.Ser157Asn	c.470G>A	missense	Rare mutation - Seen in 1 in 40,000 healthy people	157
p.Ser157Thr	c.470G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	157
p.Lys161Arg	c.482A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	161
	c.487-1G>A	splice acceptor	Rare mutation - Seen in 1 in 20,000 healthy people	2000
p.Thr165Ala	c.493A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	165
p.Thr165Ile	c.494C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	165
p.Ala166Thr	c.496G>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	166
p.Ser167Gly	c.499A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	167
p.Asp168Tyr	c.502G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	168
p.Ala170Val	c.509C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	170
p.Asp173Gly	c.518A>G	missense	Rare mutation - Seen in 1 in 15,000 healthy people	173
p.Pro179Ser	c.535C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	179
p.Glu183Lys	c.547G>A	missense	Rare mutation - Seen in 1 in 20,000 healthy people	183
p.Glu183Gln	c.547G>C	missense	Rare mutation - Seen in 1 in 30,000 healthy people	183
p.Glu183Gly	c.548A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	183
p.Gln186Arg	c.557A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	186
p.Thr190Ala	c.568A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	190
p.Leu191Phe	c.571C>T	missense	Rare mutation - Seen in 1 in 20,000 healthy people	191
p.Thr195Met	c.584C>T	missense	Rare mutation - Seen in 1 in 10,000 healthy people	195
p.Thr195Pro	c.583A>C	missense	Rare mutation - Seen in 1 in 15,000 healthy people	195
p.Thr195Lys	c.584C>A	missense	Rare mutation - Seen in 1 in 30,000 healthy people	195
p.Leu197Pro	c.590T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	197
p.Gln199Pro	c.596A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	199
p.Asp200Asn	c.598G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	200
p.Asp200Val	c.599A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	200
p.Thr202Ser	c.605C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	202
p.Asp204Glu	c.612C>G	missense	Rare mutation - Seen in 1 in 30,000 healthy people	204
p.Thr205Asn	c.614C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	205
p.Gln211His	c.633G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	211
p.Gln212Pro	c.635A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	212
p.Lys213Glu	c.637A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	213
p.Ser215Arg	c.643A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	215
p.His219Tyr	c.655C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	219
p.His219Arg	c.656A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	219
p.Trp222Ser	c.665G>C	missense	Rare mutation - Seen in 1 in 20,000 healthy people	222
p.Ser226Cys	c.677C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	226
p.Pro230Thr	c.688C>A	missense	Rare mutation - Seen in 1 in 30,000 healthy people	230
p.Pro230Ser	c.688C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	230
p.Thr232Ile	c.695C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	232
p.Gln233His	c.699G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	233
p.Cys235Phe	c.704G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	235
p.Ile237Leu	c.709A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	237
p.Ile237Phe	c.709A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	237
p.Ser238Ile	c.713G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	238
p.Pro239Ala	c.715C>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	239
p.Pro239Thr	c.715C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	239
p.Glu240Gly	c.719A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	240
p.Gly242Ser	c.724G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	242
p.Thr245Ile	c.734C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	245
p.Thr248Ser	c.743C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	248
p.Ile251Asn	c.752T>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	251
p.Ile251Val	c.751A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	251
p.Ala253Thr	c.757G>A	missense	Rare mutation - Seen in 1 in 15,000 healthy people	253
p.Ala261Thr	c.781G>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	261
p.Ala263Val	c.788C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	263
p.Lys267Asn	c.801A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	267
p.Ala270Thr	c.808G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	270
p.Gly271Ala	c.812G>C	missense	Rare mutation - Seen in 1 in 40,000 healthy people	271
p.Asn272Asp	c.814A>G	missense	Rare mutation - Seen in 1 in 30,000 healthy people	272
p.Thr273Met	c.818C>T	missense	Rare mutation - Seen in 1 in 40,000 healthy people	273
p.Thr273Lys	c.818C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	273
p.Thr273Ala	c.817A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	273
p.Leu277Val	c.829T>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	277
p.Asn279Lys	c.837C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	279
p.Asn281Lys	c.843C>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	281
p.Asn281Ser	c.842A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	281
p.Lys282Arg	c.845A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	282
p.Leu284Pro	c.851T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	284
p.Leu285Pro	c.854T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	285
p.Gly287Arg	c.859G>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	287
p.Gly288Ala	c.863G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	288
p.Ala290Ser	c.868G>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	290
p.Pro293Arg	c.878C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	293
p.Ser295Arg	c.883A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	295
p.Pro299Leu	c.896C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	299
p.Pro301Ser	c.901C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	301
p.Pro302His	c.905C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	302
p.Ser304Arg	c.910A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	304
p.Ser304Asn	c.911G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	304
p.Glu307Gly	c.920A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	307
p.Gly310Arg	c.928G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	310
p.Pro313Leu	c.938C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	313
p.Val315Ala	c.944T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	315
p.Asp316Asn	c.946G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	316
p.Thr322Ile	c.965C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	322
p.Lys323Glu	c.967A>G	missense	Rare mutation - Seen in 1 in 15,000 healthy people	323
p.Pro328Thr	c.982C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	328
p.Pro329Ser	c.985C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	329
p.Thr330Met	c.989C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	330
p.Val331Met	c.991G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	331
p.Ser337Cys	c.1010C>G	missense	Rare mutation - Seen in 1 in 15,000 healthy people	337
p.Ser337Pro	c.1009T>C	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	337
p.Ser338Gly	c.1012A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	338
p.Lys340Asn	c.1020A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	340
p.Asp341Glu	c.1023T>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	341
p.Val342Met	c.1024G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	342
p.Ile343Val	c.1027A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	343
p.Ile343del	c.1026_1028delGAT	inframe deletion	Extremely rare mutation - Seen in 1 in 120,000 healthy people	343
p.Ser344Asn	c.1031G>A	missense	Rare mutation - Seen in 1 in 40,000 healthy people	344
p.Ser344Gly	c.1030A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	344
p.Gln345Lys	c.1033C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	345
p.Pro350Ser	c.1048C>T	missense	Rare mutation - Seen in 1 in 40,000 healthy people	350
p.Asp351Tyr	c.1051G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	351
p.Asp353Gly	c.1058A>G	missense	Rare mutation - Seen in 1 in 15,000 healthy people	353
p.Asp353Val	c.1058A>T	missense	Rare mutation - Seen in 1 in 40,000 healthy people	353
p.Asp353Asn	c.1057G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	353
p.Val355Ile	c.1063G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	355
p.Val355Phe	c.1063G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	355
p.Lys356Gln	c.1066A>C	missense	Rare mutation - Seen in 1 in 15,000 healthy people	356
p.Ala358Gly	c.1073C>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	358
p.Ala361Ser	c.1081G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	361
p.Asp363Tyr	c.1087G>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	363
p.Asn364Ser	c.1091A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	364
p.Asn364His	c.1090A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	364
p.Asn364Ile	c.1091A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	364
p.Gly367Trp	c.1099G>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	367
p.Gly367Ala	c.1100G>C	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	367
p.Lys368Glu	c.1102A>G	missense	Rare mutation - Seen in 1 in 20,000 healthy people	368
p.Gly371Ala	c.1112G>C	missense	Rare mutation - Seen in 1 in 40,000 healthy people	371
p.Ser373Phe	c.1118C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	373
p.Ser373Pro	c.1117T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	373
p.Ser373Ala	c.1117T>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	373
p.Ala374Thr	c.1120G>A	missense	Rare mutation - Seen in 1 in 10,000 healthy people	374
p.Gln378Arg	c.1133A>G	missense	Rare mutation - Seen in 1 in 40,000 healthy people	378
p.Glu379Gly	c.1136A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	379
p.Ala380Ser	c.1138G>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	380
p.Ala380Thr	c.1138G>A	missense	Rare mutation - Seen in 1 in 20,000 healthy people	380
p.Ser381Leu	c.1142C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	381
p.Ser381Ala	c.1141T>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	381
p.Pro382Ser	c.1144C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	382
p.Pro382Leu	c.1145C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	382
p.Val387Met	c.1159G>A	missense	Rare mutation - Seen in 1 in 20,000 healthy people	387
p.Ala390Val	c.1169C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	390
p.Ser391Asn	c.1172G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	391
p.His399Arg	c.1196A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	399
p.Val400Ile	c.1198G>A	missense	Rare mutation - Seen in 1 in 10,000 healthy people	400
p.Arg401Trp	c.1201C>T	missense	Rare mutation - Seen in 1 in 20,000 healthy people	401
p.Ile404Val	c.1210A>G	missense	Rare mutation - Seen in 1 in 30,000 healthy people	404
p.Ile406Val	c.1216A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	406
p.Ala408Ser	c.1222G>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	408
p.Ala408Gly	c.1223C>G	missense	Rare mutation - Seen in 1 in 20,000 healthy people	408
p.Ser410Pro	c.1228T>C	missense	Rare mutation - Seen in 1 in 30,000 healthy people	410
p.Asp412Glu	c.1236T>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	412
p.Asn415Asp	c.1243A>G	missense	Rare mutation - Seen in 1 in 20,000 healthy people	415
p.Asn415Tyr	c.1243A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	415
p.His416Arg	c.1247A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	416
p.His416Gln	c.1248T>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	416
p.Arg418Lys	c.1253G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	418
p.Lys419Arg	c.1256A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	419
p.Ile424Met	c.1272T>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	424
p.Lys425Asn	c.1275A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	425
p.Ala426Val	c.1277C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	426
p.Glu429Gly	c.1286A>G	missense	Rare mutation - Seen in 1 in 10,000 healthy people	429
p.Lys430Asn	c.1290G>C	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	430
p.Ala438Pro	c.1312G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	438
p.Ala438Val	c.1313C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	438
p.Ser444Thr	c.1331G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	444
p.Val447Leu	c.1339G>T	missense	Rare mutation - Seen in 1 in 30,000 healthy people	447
p.Arg450Gly	c.1348A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	450
p.Ile451Thr	c.1352T>C	missense	Rare mutation - Seen in 1 in 15,000 healthy people	451
p.Leu452Pro	c.1355T>C	missense	Rare mutation - Seen in 1 in 15,000 healthy people	452
p.Leu452Phe	c.1354C>T	missense	Rare mutation - Seen in 1 in 20,000 healthy people	452
p.Leu452His	c.1355T>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	452
p.Asn454Asp	c.1360A>G	missense	Rare mutation - Seen in 1 in 40,000 healthy people	454
p.Asn454Lys	c.1362C>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	454
p.Ser455Phe	c.1364C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	455
p.Glu456Ala	c.1367A>C	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	456
p.Asn458Ser	c.1373A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	458
p.Asp461Gly	c.1382A>G	missense	Rare mutation - Seen in 1 in 10,000 healthy people	461
p.Pro462Leu	c.1385C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	462
p.Pro465Leu	c.1394C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	465
p.Met470Thr	c.1409T>C	missense	Rare mutation - Seen in 1 in 30,000 healthy people, recently moved to suspected pathogenic list	470
p.Ile471Val	c.1411A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	471
p.Glu472Ala	c.1415A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	472
p.Ser475Tyr	c.1424C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	475
p.Pro476Ser	c.1426C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	476
p.Val478Ile	c.1432G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	478
p.Val478Ala	c.1433T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	478
p.Gly479Asp	c.1436G>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	479
p.Thr482Ala	c.1444A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	482
p.Gly483Ala	c.1448G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	483
p.Pro491Ser	c.1471C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	491
p.Gly492Glu	c.1475G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	492
p.Lys496Asn	c.1488G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	496
p.Pro497Ser	c.1489C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	497
p.Arg498Gly	c.1492C>G	missense	Rare mutation - Seen in 1 in 15,000 healthy people	498
p.Arg498Trp	c.1492C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	498
p.Pro500Leu	c.1499C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	500
p.Pro501Leu	c.1502C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	501
p.Met502Ile	c.1506G>T	missense	Rare mutation - Seen in 1 in 30,000 healthy people	502
p.Met502Thr	c.1505T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	502
p.Met504Ile	c.1512G>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	504
p.Met504Ile	c.1512G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	504
p.Pro506Ser	c.1516C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	506
p.Thr508Met	c.1523C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	508
p.Thr508Lys	c.1523C>A	missense	Rare mutation - Seen in 1 in 40,000 healthy people	508
p.Cys509Tyr	c.1526G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	509
p.His512Pro	c.1535A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	512
p.His512Arg	c.1535A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	512
p.Ser513Pro	c.1537T>C	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	513
p.Ser513Tyr	c.1538C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	513
p.Pro514Ala	c.1540C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	514
p.Leu518Pro	c.1553T>C	missense	Rare mutation - Seen in 1 in 40,000 healthy people	518
p.Pro524Ala	c.1570C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	524
p.Arg530Gln	c.1589G>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	530
p.Pro537Gln	c.1610C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	537
p.Pro539Ala	c.1615C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	539
p.Ser540Cys	c.1618A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	540
p.Arg544Gln	c.1631G>A	missense	Rare mutation - Seen in 1 in 40,000 healthy people	544
p.Arg544Pro	c.1631G>C	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	544
p.Glu545Asp	c.1635G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	545
p.Ala546Gly	c.1637C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	546
p.Val547Ile	c.1639G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	547
p.Met548Val	c.1642A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	548
p.Ala549Thr	c.1645G>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	549
p.Thr550Ile	c.1649C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	550
p.Ser551Phe	c.1652C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	551
p.Asp552Glu	c.1656T>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	552
p.Asp552Asn	c.1654G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	552
p.Leu556Val	c.1666C>G	missense	Rare mutation - Seen in 1 in 40,000 healthy people	556
p.Glu557Asp	c.1671G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	557
p.Pro558Ser	c.1672C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	558
p.Pro558Leu	c.1673C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	558
p.Ser567Phe	c.1700C>T	missense	Rare mutation - Seen in 1 in 20,000 healthy people	567
p.Thr572Ser	c.1715C>G	missense	Rare mutation - Seen in 1 in 40,000 healthy people	572
p.Thr572Ile	c.1715C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	572
p.Thr574Ile	c.1721C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	574
p.Thr581Asn	c.1742C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	581
p.Val583Ile	c.1747G>A	missense	Rare mutation - Seen in 1 in 15,000 healthy people	583
p.Arg587Gln	c.1760G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	587
p.His602Gln	c.1806T>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	602
p.Glu603Ala	c.1808A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	603
p.Thr605Asn	c.1814C>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	605
p.Ile613Val	c.1837A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	613
p.Arg615Gly	c.1843C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	615
p.Arg615Gln	c.1844G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	615
p.Arg615Pro	c.1844G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	615
p.Phe617Ile	c.1849T>A	missense	Rare mutation - Seen in 1 in 15,000 healthy people	617
p.Gly619Asp	c.1856G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	619
p.Gly619Ser	c.1855G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	619
p.Arg625Gln	c.1874G>A	missense	Rare mutation - Seen in 1 in 20,000 healthy people	625
p.Ala630Glu	c.1889C>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	630
p.Lys631Glu	c.1891A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	631
p.Ala633Gly	c.1898C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	633
p.Gln634Arg	c.1901A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	634
p.Val636Glu	c.1907T>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	636
p.Pro637Leu	c.1910C>T	missense	Rare mutation - Seen in 1 in 40,000 healthy people	637
p.Glu639Gly	c.1916A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	639
p.Asp640Asn	c.1918G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	640
p.Met643Val	c.1927A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	643
p.Met643Ile	c.1929G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	643
p.Glu645Lys	c.1933G>A	missense	Rare mutation - Seen in 1 in 15,000 healthy people	645
p.Met646Thr	c.1937T>C	missense	Rare mutation - Seen in 1 in 40,000 healthy people	646
p.Lys647Gln	c.1939A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	647
p.Phe648Cys	c.1943T>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	648
p.His649Tyr	c.1945C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	649
p.Lys651Glu	c.1951A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	651
p.Leu655Phe	c.1963C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	655
p.Gly656Ser	c.1966G>A	missense	Rare mutation - Seen in 1 in 10,000 healthy people	656
p.Leu658Met	c.1972T>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	658
p.Lys661del	c.1982_1984delAGA	inframe deletion	Rare mutation - Seen in 1 in 40,000 healthy people	661
p.Ile663Val	c.1987A>G	missense	Rare mutation - Seen in 1 in 20,000 healthy people	663
p.Lys664Thr	c.1991A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	664
p.Asn667Lys	c.2001T>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	667
p.Lys670Arg	c.2009A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	670
p.Ser683Phe	c.2048C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	683
p.Cys684Tyr	c.2051G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	684
p.Ser686Cys	c.2056A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	686
p.Lys693Thr	c.2078A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	693
p.Pro695Ser	c.2083C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	695
p.Pro700Arg	c.2099C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	700
p.Ala702Val	c.2105C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	702
p.Ala703Ser	c.2107G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	703
p.Glu706Gly	c.2117A>G	missense	Rare mutation - Seen in 1 in 20,000 healthy people	706
p.Arg732Lys	c.2195G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	732
p.Pro737Leu	c.2210C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	737
p.Pro738Ser	c.2212C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	738
p.Ile746Thr	c.2237T>C	missense	Rare mutation - Seen in 1 in 40,000 healthy people	746
p.Ile746Val	c.2236A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	746
p.Arg750Ser	c.2250G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	750
p.Ser753Pro	c.2257T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	753
p.Ser754Asn	c.2261G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	754
p.Pro756Gln	c.2267C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	756
p.Val761Met	c.2281G>A	missense	Rare mutation - Seen in 1 in 40,000 healthy people	761
p.Gln766Arg	c.2297A>G	missense	Rare mutation - Seen in 1 in 30,000 healthy people	766
p.Ser771Phe	c.2312C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	771
p.Ser772Leu	c.2315C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	772
p.Ala775Gly	c.2324C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	775
p.Met776Arg	c.2327T>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	776
p.Ser780Ala	c.2338T>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	780
p.Ser780Leu	c.2339C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	780
p.Thr781Ile	c.2342C>T	missense	Rare mutation - Seen in 1 in 40,000 healthy people	781
p.Thr781Pro	c.2341A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	781
p.Asn787Ser	c.2360A>G	missense	Rare mutation - Seen in 1 in 40,000 healthy people	787
p.Asn789Asp	c.2365A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	789
p.Ala793Ser	c.2377G>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	793
p.Thr797Asn	c.2390C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	797
p.Asn798Ser	c.2393A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	798
p.Pro806Ser	c.2416C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	806
p.Pro806Arg	c.2417C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	806
p.Asn807Asp	c.2419A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	807
p.Ser812Cys	c.2434A>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	812
p.Ser812Asn	c.2435G>A	missense	Rare mutation - Seen in 1 in 40,000 healthy people	812
p.Ala813Val	c.2438C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	813
p.Thr816Asn	c.2447C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	816
p.Thr816Ser	c.2447C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	816
p.His823Gln	c.2469C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	823
p.Ser824Gly	c.2470A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	824
p.Pro832Ser	c.2494C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	832
p.His841Arg	c.2522A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	841
p.His841Pro	c.2522A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	841
p.Cys843Tyr	c.2528G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	843
p.Gly846Asp	c.2537G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	846
p.Ser847Phe	c.2540C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	847
p.Thr852Met	c.2555C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	852
p.Asn876del	c.2627_2629delACA	inframe deletion	Very rare mutation - Seen in 1 in 60,000 healthy people	876
p.Thr878Ala	c.2632A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	878
p.Ala882Val	c.2645C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	882
p.Ala882Glu	c.2645C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	882
p.Ser885Arg	c.2655C>G	missense	Rare mutation - Seen in 1 in 30,000 healthy people	885
p.Ser888Tyr	c.2663C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	888
p.Arg889Gln	c.2666G>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	889
p.Arg891Lys	c.2672G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	891
p.Arg891Met	c.2672G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	891
p.Pro902Arg	c.2705C>G	missense	Rare mutation - Seen in 1 in 40,000 healthy people	902
p.Pro902Leu	c.2705C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	902
p.Ile905Thr	c.2714T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	905
p.Pro906Arg	c.2717C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	906
p.Ser907Cys	c.2720C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	907
p.Asp908Asn	c.2722G>A	missense	Rare mutation - Seen in 1 in 20,000 healthy people	908
p.Thr911Pro	c.2731A>C	missense	Rare mutation - Seen in 1 in 15,000 healthy people	911
p.Arg914Trp	c.2740C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	914
p.Arg914Gln	c.2741G>A	missense	Rare mutation - Seen in 1 in 40,000 healthy people	914
p.His915Asp	c.2743C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	915
p.Gly916Val	c.2747G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	916
p.Arg918Gln	c.2753G>A	missense	Rare mutation - Seen in 1 in 30,000 healthy people	918
p.Arg918Trp	c.2752C>T	missense	Rare mutation - Seen in 1 in 40,000 healthy people	918
p.Gln919Arg	c.2756A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	919
p.Lys920Asn	c.2760G>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	920
p.Lys920Asn	c.2760G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	920
p.His921Gln	c.2763T>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	921
p.His921Tyr	c.2761C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	921
p.His921Arg	c.2762A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	921
p.Ile923Thr	c.2768T>C	missense	Rare mutation - Seen in 1 in 40,000 healthy people	923
p.Ile923Ser	c.2768T>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	923
p.Val924Met	c.2770G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	924
p.Phe927Val	c.2779T>G	missense	Rare mutation - Seen in 1 in 15,000 healthy people	927
p.Leu928Met	c.2782C>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	928
p.Leu928Val	c.2782C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	928
p.Glu931Lys	c.2791G>A	missense	Rare mutation - Seen in 1 in 30,000 healthy people	931
p.Glu931Ala	c.2792A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	931
p.Ser932Asn	c.2795G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	932
p.Leu933Val	c.2797C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	933
p.Lys934Arg	c.2801A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	934
p.Arg942Trp	c.2824C>T	missense	Rare mutation - Seen in 1 in 10,000 healthy people	942
p.Arg942Gln	c.2825G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	942
p.Ser944Arg	c.2832C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	944
p.Asp949Asn	c.2845G>A	missense	Rare mutation - Seen in 1 in 30,000 healthy people	949
p.Asp949Val	c.2846A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	949
p.Asp950Glu	c.2850C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	950
p.Ala955Glu	c.2864C>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	955
p.Asp956Val	c.2867A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	956
p.Glu959Lys	c.2875G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	959
p.Thr962Ile	c.2885C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	962
p.His971Gln	c.2913C>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	971
p.His971Gln	c.2913C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	971
p.Arg972Gln	c.2915G>A	missense	Rare mutation - Seen in 1 in 40,000 healthy people	972
p.Arg972Trp	c.2914C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	972
p.Thr975Ala	c.2923A>G	missense	Rare mutation - Seen in 1 in 15,000 healthy people	975
p.Thr975Ser	c.2924C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	975
p.Glu979Lys	c.2935G>A	missense	Rare mutation - Seen in 1 in 30,000 healthy people	979
p.Glu979Gln	c.2935G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	979
p.Asn980Asp	c.2938A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	980
p.Ser984Arg	c.2952C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	984
p.Ile985Val	c.2953A>G	missense	Rare mutation - Seen in 1 in 20,000 healthy people	985
p.Arg987Gln	c.2960G>A	missense	Rare mutation - Seen in 1 in 30,000 healthy people	987
p.Arg987Trp	c.2959C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	987
p.Phe990Ile	c.2968T>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	990
p.Tyr993Cys	c.2978A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	993
p.Pro995Ala	c.2983C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	995
p.Tyr998His	c.2992T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	998
p.Tyr1001Cys	c.3002A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1001
p.Pro1003Leu	c.3008C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1003
p.Leu1004Phe	c.3012G>C	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1004
p.Tyr1006Cys	c.3017A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1006
p.Leu1007Ile	c.3019C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1007
p.Arg1008Cys	c.3022C>T	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1008
p.Arg1008Ser	c.3022C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1008
p.Lys1018del	c.3052_3054delAAG	inframe deletion	Very rare mutation - Seen in 1 in 60,000 healthy people	1018
p.Arg1019Cys	c.3055C>T	missense	Rare mutation - Seen in 1 in 30,000 healthy people	1019
p.Arg1019His	c.3056G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1019
p.Pro1022Leu	c.3065C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1022
p.Thr1025Asn	c.3074C>A	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1025
p.Asp1027Asn	c.3079G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1027
p.Thr1028Ser	c.3083C>G	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1028
p.Met1029Val	c.3085A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1029
p.Thr1030Lys	c.3089C>A	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1030
p.Thr1030Ile	c.3089C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1030
p.Val1032Met	c.3094G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1032
p.Gly1037Ala	c.3110G>C	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1037
p.Tyr1040Cys	c.3119A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1040
p.Pro1041Ser	c.3121C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1041
p.Pro1043Leu	c.3128C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1043
p.Gly1052Val	c.3155G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1052
p.Met1053Lys	c.3158T>A	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1053
p.Tyr1055Cys	c.3164A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1055
p.Pro1059Ser	c.3175C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1059
p.Met1060Val	c.3178A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1060
p.Gly1067Ser	c.3199G>A	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1067
p.Pro1070Ser	c.3208C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1070
p.Ala1071Val	c.3212C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1071
p.Ala1071Thr	c.3211G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1071
p.Pro1072Ser	c.3214C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1072
p.Leu1073Phe	c.3219G>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1073
p.Ser1076Leu	c.3227C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1076
p.Leu1079Phe	c.3235C>T	missense	Rare mutation - Seen in 1 in 40,000 healthy people	1079
p.Pro1084Arg	c.3251C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1084
p.Phe1085Leu	c.3255C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1085
p.Pro1088Gln	c.3263C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1088
p.Thr1089Ile	c.3266C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1089
p.Pro1091Leu	c.3272C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1091
p.Pro1092Leu	c.3275C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1092
p.Pro1093Ser	c.3277C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1093
p.Pro1093His	c.3278C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1093
p.His1109Arg	c.3326A>G	missense	Rare mutation - Seen in 1 in 30,000 healthy people	1109
p.Ala1111Asp	c.3332C>A	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1111
p.Val1115Ile	c.3343G>A	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1115
p.Leu1117Pro	c.3350T>C	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1117
p.Gly1119Arg	c.3355G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1119
p.Pro1120His	c.3359C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1120
p.Val1121Ala	c.3362T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1121
p.Ser1122Cys	c.3364A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1122
p.Met1123Leu	c.3367A>C	missense	Rare mutation - Seen in 1 in 40,000 healthy people	1123
p.Gly1124Asp	c.3371G>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1124
p.Gly1124Val	c.3371G>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1124
p.Gly1126Ser	c.3376G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1126
p.Met1128Leu	c.3382A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1128
p.Met1128Thr	c.3383T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1128
p.Gln1129Glu	c.3385C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1129
p.Pro1130Ala	c.3388C>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1130
p.Pro1130Leu	c.3389C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1130
p.Ser1131Pro	c.3391T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1131
p.Pro1134Thr	c.3400C>A	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1134
p.Pro1135Ser	c.3403C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1135
p.Lys1136Met	c.3407A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1136
p.Ser1139Thr	c.3416G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1139
p.Ala1140Ser	c.3418G>T	missense	Rare mutation - Seen in 1 in 40,000 healthy people	1140
p.Ser1141Gly	c.3421A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1141
p.Ser1143Pro	c.3427T>C	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1143
p.Arg1146Gln	c.3437G>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1146
p.Leu1147Pro	c.3440T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1147
p.His1148Tyr	c.3442C>T	missense	Rare mutation - Seen in 1 in 10,000 healthy people	1148
p.Lys1149Thr	c.3446A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1149
p.Lys1149Arg	c.3446A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1149
p.Arg1150Ser	c.3450G>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1150
p.His1152Tyr	c.3454C>T	missense	Rare mutation - Seen in 1 in 30,000 healthy people	1152
p.Lys1157Arg	c.3470A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1157
p.Arg1162Trp	c.3484C>T	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1162
p.Arg1162Gln	c.3485G>A	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1162
p.Ile1163Val	c.3487A>G	missense	Rare mutation - Seen in 1 in 40,000 healthy people	1163
p.Asp1168Glu	c.3504C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1168
p.Ser1171Arg	c.3511A>C	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1171
p.Gly1172Val	c.3515G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1172
p.Phe1174Leu	c.3522T>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1174
p.Gly1176Ser	c.3526G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1176
p.Gly1176Asp	c.3527G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1176
p.Gly1180Ala	c.3539G>C	missense	Rare mutation - Seen in 1 in 40,000 healthy people	1180
p.Ser1182Cys	c.3545C>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1182
p.Ser1187Gly	c.3559A>G	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1187
p.Ser1187Arg	c.3561C>G	missense	Rare mutation - Seen in 1 in 30,000 healthy people	1187
p.Ser1187Arg	c.3561C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1187
p.Arg1189Gln	c.3566G>A	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1189
p.Arg1189Trp	c.3565C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1189
p.Leu1190Pro	c.3569T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1190
p.Ser1191Asn	c.3572G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1191
p.Ala1193Ser	c.3577G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1193
p.Ala1193Val	c.3578C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1193
p.Glu1196Gln	c.3586G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1196
p.Glu1196Val	c.3587A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1196
p.Glu1196Asp	c.3588G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1196
p.Leu1197Phe	c.3589C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1197
p.Val1200Leu	c.3598G>C	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1200
p.Lys1203Glu	c.3607A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1203
p.Asn1204Lys	c.3612C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1204
p.His1206Leu	c.3617A>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1206
p.Lys1207Met	c.3620A>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1207
p.Lys1211Arg	c.3632A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1211
p.His1212Asn	c.3634C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1212
p.His1214Asn	c.3640C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1214
p.His1214Arg	c.3641A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1214
p.Glu1216Lys	c.3646G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1216
p.Ala1217Pro	c.3649G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1217
p.Gly1218Ser	c.3652G>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1218
p.Lys1220Arg	c.3659A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1220
p.Ala1221Pro	c.3661G>C	missense	Rare mutation - Seen in 1 in 40,000 healthy people	1221
p.Ala1221Thr	c.3661G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1221
p.Lys1223Asn	c.3669G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1223
p.Asn1225Ser	c.3674A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1225
p.Thr1230Ile	c.3689C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1230
p.Ser1232Pro	c.3694T>C	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1232
p.Thr1233Ile	c.3698C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1233
p.Leu1236Phe	c.3706C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1236
p.Asp1238Asn	c.3712G>A	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1238
p.Asp1238Tyr	c.3712G>T	missense	Rare mutation - Seen in 1 in 40,000 healthy people	1238
p.Ala1239Thr	c.3715G>A	missense	Rare mutation - Seen in 1 in 30,000 healthy people	1239
p.His1241Arg	c.3722A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1241
p.Trp1242Cys	c.3726G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1242
p.Thr1243Ile	c.3728C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1243
p.Ala1245Val	c.3734C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1245
p.Lys1246Glu	c.3736A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1246
p.Lys1246Arg	c.3737A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1246
p.Ser1252Asn	c.3755G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1252
p.Ser1253Asn	c.3758G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1253
p.Glu1254Lys	c.3760G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1254
p.Pro1255Ser	c.3763C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1255
p.Val1256Ala	c.3767T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1256
p.Asp1257Gly	c.3770A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1257
p.Ser1258Leu	c.3773C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1258
p.Cys1259Phe	c.3776G>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1259
p.Lys1261Arg	c.3782A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1261
p.Gly1268Arg	c.3802G>A	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1268
p.Asp1269Val	c.3806A>T	missense	Extremely rare mutation - Seen in 1 in 110,000 healthy people	1269
p.Gly1270Asp	c.3809G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1270
p.Thr1273Met	c.3818C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1273
p.Glu1276Lys	c.3826G>A	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1276
p.Asn1277Asp	c.3829A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1277
p.Leu1278Val	c.3832C>G	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1278
p.Asp1279Glu	c.3837C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1279
p.Val1280Met	c.3838G>A	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1280
p.Ser1282Arg	c.3846T>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1282
p.Glu1283Gln	c.3847G>C	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1283
p.Glu1283Ala	c.3848A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1283
p.Met1284Ile	c.3852G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1284
p.Asn1285Thr	c.3854A>C	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1285
p.Pro1286Ser	c.3856C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1286
p.Ser1287Leu	c.3860C>T	missense	Rare mutation - Seen in 1 in 40,000 healthy people	1287
p.Asn1288Ser	c.3863A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1288
p.Lys1290Arg	c.3869A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1290
p.Lys1290Asn	c.3870G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1290
p.Asp1292Glu	c.3876C>G	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1292
p.Ser1296Asn	c.3887G>A	missense	Rare mutation - Seen in 1 in 40,000 healthy people	1296
p.Arg1301Ser	c.3903G>T	missense	Rare mutation - Seen in 1 in 30,000 healthy people	1301
p.Arg1301del	c.3903_3905delGAG	inframe deletion	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1301
p.Ser1302Asn	c.3905G>A	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1302
p.Glu1304Asp	c.3912A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1304
p.Gly1305Val	c.3914G>T	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1305
p.Thr1308Met	c.3923C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1308
p.Tyr1309Cys	c.3926A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1309
p.Arg1310Gly	c.3928A>G	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1310
p.Arg1310Lys	c.3929G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1310
p.Glu1311Asp	c.3933A>C	missense	Rare mutation - Seen in 1 in 40,000 healthy people	1311
p.Asp1313Gly	c.3938A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1313
p.Asp1313Val	c.3938A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1313
p.Ile1314Val	c.3940A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1314
p.Ile1314Phe	c.3940A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1314
p.Met1319Val	c.3955A>G	missense	Rare mutation - Seen in 1 in 40,000 healthy people	1319
p.Arg1321Cys	c.3961C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1321
p.Arg1321Leu	c.3962G>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1321
p.Ser1325Arg	c.3975T>A	missense	Rare mutation - Seen in 1 in 10,000 healthy people	1325
p.Ser1325Gly	c.3973A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1325
p.Tyr1327Cys	c.3980A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1327
p.Tyr1327His	c.3979T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1327
p.Tyr1327Phe	c.3980A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1327
p.Met1331Val	c.3991A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1331
p.Met1331Ile	c.3993G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1331
p.Ser1332Cys	c.3995C>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1332
p.Gly1334Glu	c.4001G>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1334
p.Met1335Leu	c.4003A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1335
p.Ser1337Cys	c.4009A>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1337
p.Ser1337Gly	c.4009A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1337
p.His1339Arg	c.4016A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1339
p.Lys1341Glu	c.4021A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1341
p.Val1342Met	c.4024G>A	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1342
p.Gln1344Arg	c.4031A>G	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1344
p.Gln1344Leu	c.4031A>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1344
p.Thr1345Arg	c.4034C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1345
p.Ala1346Thr	c.4036G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1346
p.Ala1346Val	c.4037C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1346
p.Val1347Met	c.4039G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1347
p.Lys1350Thr	c.4049A>C	missense	Rare mutation - Seen in 1 in 30,000 healthy people	1350
p.Lys1350Gln	c.4048A>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1350
p.Glu1352Lys	c.4054G>A	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1352
p.Met1358Thr	c.4073T>C	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1358
p.Met1358Val	c.4072A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1358
p.Ala1366Ser	c.4096G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1366
p.Asp1368Asn	c.4102G>A	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1368
p.Asp1368Glu	c.4104C>G	missense	Rare mutation - Seen in 1 in 30,000 healthy people	1368
p.Ile1372Val	c.4114A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1372
p.Pro1374Thr	c.4120C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1374
p.Leu1378Ile	c.4132T>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1378
p.Leu1381Arg	c.4142T>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1381
p.Ser1384Cys	c.4151C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1384
p.Thr1387Met	c.4160C>T	missense	Rare mutation - Seen in 1 in 10,000 healthy people	1387
p.Thr1387Lys	c.4160C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1387
p.Ser1388Leu	c.4163C>T	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1388
p.Ala1390Thr	c.4168G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1390
p.Ala1390Gly	c.4169C>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1390
p.Val1391Asp	c.4172T>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1391
p.Gly1392Ala	c.4175G>C	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1392
p.Gly1392Ser	c.4174G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1392
p.Lys1396Met	c.4187A>T	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1396
p.Arg1401Gly	c.4201C>G	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1401
p.Arg1401Leu	c.4202G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1401
p.Arg1402Trp	c.4204C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1402
p.Arg1402Gln	c.4205G>A	missense	Rare mutation - Seen in 1 in 30,000 healthy people	1402
p.Glu1403Gln	c.4207G>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1403
p.Glu1403Asp	c.4209G>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1403
p.Ile1404Thr	c.4211T>C	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1404
p.Ala1406Asp	c.4217C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1406
p.Arg1412Trp	c.4234C>T	missense	Rare mutation - Seen in 1 in 40,000 healthy people	1412
p.Arg1412Gly	c.4234C>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1412
p.Asn1416Ser	c.4247A>G	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1416
p.Asn1416Asp	c.4246A>G	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1416
p.Ser1422Phe	c.4265C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1422
p.Asn1426Lys	c.4278C>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1426
p.His1429Tyr	c.4285C>T	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1429
p.Ala1436Thr	c.4306G>A	missense	Extremely rare mutation - Seen in 1 in 120,000 healthy people	1436
p.Leu1439Met	c.4315C>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1439
p.Gly1446Ala	c.4337G>C	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1446
p.Val1450Met	c.4348G>A	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1450
p.Arg1453Gly	c.4357A>G	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1453
p.Gln1463His	c.4389G>C	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1463
p.Asp1465His	c.4393G>C	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1465
p.Ile1479Val	c.4435A>G	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1479
p.Ile1479Ser	c.4436T>G	missense	Very rare mutation - Seen in 1 in 90,000 healthy people	1479
p.Lys1484Gln	c.4450A>C	missense	Very rare mutation - Seen in 1 in 80,000 healthy people	1484
p.Met1515Val	c.4543A>G	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1515
p.Pro1540Leu	c.4619C>T	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1540
p.Pro1542Ser	c.4624C>T	missense	Rare mutation - Seen in 1 in 10,000 healthy people	1542
p.Pro1542Ala	c.4624C>G	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1542
p.Pro1545Ser	c.4633C>T	missense	Rare mutation - Seen in 1 in 20,000 healthy people	1545
p.Pro1545Ala	c.4633C>G	missense	Rare mutation - Seen in 1 in 40,000 healthy people	1545
p.Pro1548Ser	c.4642C>T	missense	Rare mutation - Seen in 1 in 10,000 healthy people	1548
p.Pro1548Ala	c.4642C>G	missense	Very rare mutation - Seen in 1 in 50,000 healthy people	1548
p.Gly1550Ala	c.4649G>C	missense	Very rare mutation - Seen in 1 in 60,000 healthy people	1550
p.Pro1557Leu	c.4670C>T	missense	Very rare mutation - Seen in 1 in 80,000 healthy people	1557
p.Ala1561Pro	c.4681G>C	missense	Rare mutation - Seen in 1 in 10,000 healthy people	1561
p.Pro1564Leu	c.4691C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1564
p.Pro1564Arg	c.4691C>G	missense	Extremely rare mutation - Seen in 1 in 100,000 healthy people	1564
p.Glu1576Ala	c.4727A>C	missense	Extremely rare mutation - Seen in 1 in 110,000 healthy people	1576
p.Glu1577Lys	c.4729G>A	missense	Very rare mutation - Seen in 1 in 50,000 healthy people	1577
p.Ser1587Ala	c.4759T>G	missense	Extremely rare mutation - Seen in 1 in 110,000 healthy people	1587
p.Gly1589Glu	c.4766G>A	missense	Extremely rare mutation - Seen in 1 in 110,000 healthy people	1589
p.Leu1595Phe	c.4783C>T	missense	Rare mutation - Seen in 1 in 15,000 healthy people	1595
p.Ser1215_His1219del	c.3644_3658delGCGAAGCCGGCCACA	inframe deletion	Rare mutation - Seen in 1 in 15,000 healthy people	1215
p.Ala170_Leu174dup	c.508_522dupGCAGCCAGTGACCTC	inframe insertion	Extremely rare mutation - Seen in 1 in 120,000 healthy people	170
p.Ser495Thr	c.1483T>A	missense	Invitae/Children's Mercy	495
p.His1100Arg	c.3299A>G	missense	Invitae/Chrildren' Mercy/GeneDX	1100
p.Thr1547Asn	c.4640C>A	missense	Children's Mercy/University of Chicago	1547

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