ClinVar Miner

List of variants reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8387
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HGVS dbSNP
GRCh37/hg19 12q24.21(chr12:116497982-116534949)x1
GRCh37/hg19 14q11.2(chr14:23859940-23889004)x1
GRCh37/hg19 15q13.2-13.3(chr15:31115047-32917857)x3
GRCh37/hg19 15q13.3(chr15:32024132-32418279)x1
GRCh37/hg19 17p13.3(chr17:961016-1641881)x3
GRCh37/hg19 17q22(chr17:55916829-56770618)x1
GRCh37/hg19 19q13.33(chr19:50364553-50365166)x1
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3
GRCh37/hg19 1p36.33(chr1:1309373-2043694)x4
GRCh37/hg19 1q21.1(chr1:145291030-145735385)x3
GRCh37/hg19 1q21.1(chr1:145368848-145735385)x3
GRCh37/hg19 1q21.1(chr1:145387945-145735385)x3
GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3
GRCh37/hg19 21q22.3(chr21:47550596-48080926)x1
GRCh37/hg19 22q11.21(chr22:21074920-21440514)x1
GRCh37/hg19 22q11.21-11.22(chr22:21923858-22963000)x1
GRCh37/hg19 22q11.22-11.23(chr22:23258229-23654222)x1
GRCh37/hg19 22q13.31-13.33(chr22:46316673-50357320)x1
GRCh37/hg19 2q23.1(chr2:148778595-148799306)x1
GRCh37/hg19 2q23.1(chr2:148957572-149027461)x1
GRCh37/hg19 2q31.1(chr2:174586724-176423918)x1
GRCh37/hg19 2q33.1(chr2:201949918-201950495)x1
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3
GRCh37/hg19 3p25.3(chr3:9405337-10168892)x3
GRCh37/hg19 3p26.3-26.2(chr3:270649-3927005)x1
GRCh37/hg19 3q13.31(chr3:114260384-116691114)x1
GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3
GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3
GRCh37/hg19 3q29(chr3:193360287-193360759)x1
GRCh37/hg19 3q29(chr3:196281672-197681798)x3
GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1
GRCh37/hg19 7q21.11(chr7:77972816-78186999)x1
GRCh37/hg19 7q21.11(chr7:77972816-79082129)x1
GRCh37/hg19 7q35(chr7:147006667-147101307)x1
GRCh37/hg19 7q36.3(chr7:156431577-157598312)x1
GRCh37/hg19 8q12.1(chr8:56405320-57358911)x1
GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3
GRCh37/hg19 Xp21.3(chrX:28803130-28903570)x2
GRCh37/hg19 Xp22.33(chrX:2873380-2878978)x2
GRCh38/hg38 10p13(chr10:12333253-13948472)x1
GRCh38/hg38 12p13.1(chr12:13634987-13726033)x3
GRCh38/hg38 12q24.13(chr12:112416863-112426595)x3
GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3
GRCh38/hg38 16p13.3(chr16:979282-1005769)x3
GRCh38/hg38 17p13.3(chr17:1348488-1358016)x3
GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1
GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1
GRCh38/hg38 20q11.22(chr20:35051855-35438457)x1
GRCh38/hg38 21q22.11(chr21:33361172-34048047)x1
GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1
GRCh38/hg38 2q13-14.1(chr2:110684553-112344958)x1
GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1
GRCh38/hg38 3p24.2(chr3:24295007-24410563)x1
GRCh38/hg38 3q28(chr3:191142435-192393271)x1
GRCh38/hg38 4p16.3(chr4:1825301-1859026)x1
GRCh38/hg38 4q22.1(chr4:89537501-90291933)x1
GRCh38/hg38 4q31.23(chr4:147920951-148356485)x1
GRCh38/hg38 5q12.3(chr5:65413763-66430722)x1
GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1
GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1
GRCh38/hg38 Xp11.4(chrX:40165688-40662855)x2
GRCh38/hg38 Xp22.11(chrX:22774924-23081201)x0
GRCh38/hg38 Xp22.2(chrX:11108228-11121175)x3
NC_000011.10:g.67519163_67519164del rs1591077467
NM_000016.5(ACADM):c.1052C>T (p.Thr351Ile) rs766140986
NM_000016.5(ACADM):c.177A>C (p.Glu59Asp) rs1057520214
NM_000016.5(ACADM):c.218A>G (p.Tyr73Cys) rs1057521114
NM_000016.5(ACADM):c.503A>C (p.Asp168Ala) rs745844469
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.708+1G>A rs1553124803
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.739A>G (p.Thr247Ala) rs1057518408
NM_000016.5(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu) rs183161718
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362
NM_000017.4(ACADS):c.302C>T (p.Ala101Val) rs1001298373
NM_000017.4(ACADS):c.313A>T (p.Ile105Phe) rs767155955
NM_000017.4(ACADS):c.322G>A (p.Gly108Ser) rs117356004
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr) rs780571371
NM_000017.4(ACADS):c.812G>T (p.Gly271Val) rs796051902
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309
NM_000017.4(ACADS):c.815G>A (p.Arg272His) rs374726386
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln) rs932525260
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His) rs1555244280
NM_000018.4(ACADVL):c.1013A>G (p.Asn338Ser) rs956279629
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr) rs1064793382
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn) rs1057523504
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828
NM_000018.4(ACADVL):c.1612del (p.Arg538fs) rs1555528937
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648
NM_000018.4(ACADVL):c.482C>T (p.Ala161Val) rs796051908
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro) rs1131691808
NM_000018.4(ACADVL):c.554G>C (p.Gly185Ala) rs1555528181
NM_000018.4(ACADVL):c.573_580delinsTTT (p.Gly193fs) rs1555528188
NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp) rs1220348903
NM_000018.4(ACADVL):c.602_603del (p.Tyr201fs) rs1064796104
NM_000018.4(ACADVL):c.62+6T>C rs1555527495
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.889_891del (p.Glu297del) rs796051914
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093
NM_000020.2(ACVRL1):c.1048+2T>G rs1555153172
NM_000020.2(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686
NM_000020.2(ACVRL1):c.1285G>T (p.Val429Leu) rs1131691286
NM_000020.2(ACVRL1):c.1336C>T (p.Gln446Ter) rs1064794217
NM_000020.2(ACVRL1):c.154A>G (p.Thr52Ala) rs1131691346
NM_000020.2(ACVRL1):c.302del (p.Leu101fs) rs1064794791
NM_000020.2(ACVRL1):c.598C>T (p.Arg200Trp) rs999380946
NM_000020.2(ACVRL1):c.682G>A (p.Val228Ile) rs138048445
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227
NM_000021.4(PSEN1):c.505T>C (p.Ser169Pro) rs63750418
NM_000022.4(ADA):c.362+5_362+8del rs763595926
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe) rs1555568335
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081
NM_000023.4(SGCA):c.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser) rs574376340
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter) rs879257322
NM_000026.4(ADSL):c.1123C>T (p.Gln375Ter) rs1555908924
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg) rs1057521071
NM_000026.4(ADSL):c.1414T>C (p.Tyr472His) rs1057521795
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter) rs1036185928
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln) rs28941471
NM_000026.4(ADSL):c.775G>T (p.Gly259Trp) rs796052244
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000027.4(AGA):c.508-2A>G rs986682657
NM_000031.6(ALAD):c.36C>G (p.Phe12Leu) rs121912984
NM_000032.5(ALAS2):c.1093T>C (p.Tyr365His) rs863223902
NM_000032.5(ALAS2):c.1136T>C (p.Met379Thr) rs863223903
NM_000032.5(ALAS2):c.1160G>C (p.Gly387Ala) rs1057522832
NM_000032.5(ALAS2):c.1676G>C (p.Arg559Pro) rs145704441
NM_000033.4(ABCD1):c.1082-1G>A rs1557054153
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1933del (p.Gln645fs) rs1603236013
NM_000033.4(ABCD1):c.2037G>A (p.Trp679Ter) rs1557055406
NM_000033.4(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810
NM_000035.4(ALDOB):c.800-2A>C rs199965465
NM_000036.2(AMPD1):c.1261C>T (p.Arg421Trp) rs35859650
NM_000036.2(AMPD1):c.1464G>A (p.Trp488Ter) rs1447749222
NM_000036.2(AMPD1):c.567G>T (p.Gln189His) rs139582106
NM_000037.4(ANK1):c.328-2A>G rs1064795837
NM_000038.6(APC):c.1246dup (p.Tyr416fs) rs1060503366
NM_000038.6(APC):c.1312+5G>C rs886039507
NM_000038.6(APC):c.1377_1383del (p.Glu460fs) rs1554080716
NM_000038.6(APC):c.1409-6A>G rs886039508
NM_000038.6(APC):c.1522_1523del (p.Leu508fs) rs886039509
NM_000038.6(APC):c.1548+3_1548+4del rs886039510
NM_000038.6(APC):c.1715T>A (p.Leu572Ter) rs886039511
NM_000038.6(APC):c.1743+1G>A rs761458613
NM_000038.6(APC):c.1956C>T (p.His652=) rs1064793716
NM_000038.6(APC):c.1958+3A>T rs879254032
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.220G>T (p.Glu74Ter) rs876658941
NM_000038.6(APC):c.298del (p.Glu100fs) rs1064794224
NM_000038.6(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000038.6(APC):c.3569C>A (p.Ser1190Ter) rs886039618
NM_000038.6(APC):c.3607G>T (p.Gly1203Ter) rs1057518472
NM_000038.6(APC):c.422+2T>C rs879254169
NM_000038.6(APC):c.4647del (p.Glu1550fs) rs879254283
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.4741del (p.Ser1581fs) rs886039682
NM_000038.6(APC):c.4793_4800delinsTGG (p.Ala1598fs) rs886039641
NM_000038.6(APC):c.508_509del (p.Ile169_Asp170insTer) rs886039642
NM_000038.6(APC):c.5234dup (p.Ile1746fs) rs1554086550
NM_000038.6(APC):c.5569del (p.Ser1857fs) rs1064795688
NM_000038.6(APC):c.573T>A (p.Tyr191Ter) rs185154886
NM_000038.6(APC):c.6010dup (p.Ala2004fs) rs879254226
NM_000038.6(APC):c.6059_6062del (p.Cys2020fs) rs876660174
NM_000038.6(APC):c.6093_6095delinsAC (p.Ser2031fs) rs879254155
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000038.6(APC):c.7143_7146del (p.Thr2382fs) rs886039687
NM_000038.6(APC):c.7393_7394del (p.Leu2465fs) rs1554088313
NM_000038.6(APC):c.7891del (p.Ser2631fs) rs1554088726
NM_000038.6(APC):c.7931_7937del (p.Ile2644fs) rs886039639
NM_000038.6(APC):c.800dup (p.Glu268fs) rs863225372
NM_000043.6(FAS):c.661del (p.Ala221fs) rs1085307626
NM_000043.6(FAS):c.664del (p.Ala221_Ile222insTer) rs1554852090
NM_000043.6(FAS):c.785T>A (p.Ile262Asn) rs483352683
NM_000044.6(AR):c.1720G>C (p.Ala574Pro) rs1057521121
NM_000044.6(AR):c.1813G>C (p.Asp605His) rs1266872442
NM_000044.6(AR):c.1823G>A (p.Arg608Gln) rs137852573
NM_000044.6(AR):c.1888C>T (p.Arg630Trp) rs1085307962
NM_000044.6(AR):c.2137C>A (p.Leu713Ile) rs137852595
NM_000044.6(AR):c.2258G>T (p.Arg753Leu) rs1057523747
NM_000044.6(AR):c.2504A>G (p.Tyr835Cys) rs1057521122
NM_000044.6(AR):c.2668G>C (p.Val890Leu) rs886041133
NM_000044.6(AR):c.2723T>A (p.Leu908His) rs1131691681
NM_000044.6(AR):c.2740C>A (p.Pro914Thr) rs1064795250
NM_000045.4(ARG1):c.709G>A (p.Asp237Asn) rs764273304
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027
NM_000046.5(ARSB):c.200T>A (p.Ile67Asn) rs1064793026
NM_000046.5(ARSB):c.317G>C (p.Arg106Pro) rs150087888
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000047.2(ARSL):c.1387G>A (p.Ala463Thr) rs1131691809
NM_000047.2(ARSL):c.331C>T (p.Arg111Cys) rs1085307895
NM_000047.2(ARSL):c.332G>A (p.Arg111His) rs122460153
NM_000047.2(ARSL):c.513C>A (p.Tyr171Ter) rs143383382
NM_000047.2(ARSL):c.977T>C (p.Met326Thr) rs1555909466
NM_000048.4(ASL):c.1141G>C (p.Gly381Arg) rs1301059768
NM_000048.4(ASL):c.175G>A (p.Glu59Lys) rs869312985
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199
NM_000048.4(ASL):c.539T>G (p.Leu180Arg) rs1057141162
NM_000048.4(ASL):c.839G>A (p.Gly280Glu) rs1085307952
NM_000048.4(ASL):c.978G>C (p.Gln326His) rs764356037
NM_000049.3(ASPA):c.368G>A (p.Gly123Glu) rs1057521115
NM_000049.3(ASPA):c.770C>G (p.Pro257Arg) rs377217076
NM_000051.3(ATM):c.-30-1G>T rs869312754
NM_000051.3(ATM):c.1066-2A>T rs1555069514
NM_000051.3(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.3(ATM):c.1139_1142dup (p.Ser381fs) rs886041340
NM_000051.3(ATM):c.119_122del (p.Ile40fs) rs876659116
NM_000051.3(ATM):c.1235+1del rs886039640
NM_000051.3(ATM):c.1264A>T (p.Lys422Ter) rs1555070678
NM_000051.3(ATM):c.1285_1288del (p.Asn429fs) rs1555070694
NM_000051.3(ATM):c.1348G>T (p.Glu450Ter) rs1555070786
NM_000051.3(ATM):c.1367del (p.Leu456fs) rs1555070832
NM_000051.3(ATM):c.1435_1436del (p.Asp479fs) rs1555070947
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1487_1495delinsTTTCTGAGT (p.Ser496_Gln499delinsIleSerGluTer) rs1064795556
NM_000051.3(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.3(ATM):c.1692T>A (p.Cys564Ter) rs886039644
NM_000051.3(ATM):c.1697_1706del (p.Val566fs) rs1064794468
NM_000051.3(ATM):c.1749_1750delinsAT (p.Tyr583_Gln584delinsTer) rs1064796083
NM_000051.3(ATM):c.1915_1916insT (p.Asp639fs) rs1060501610
NM_000051.3(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.3(ATM):c.193C>T (p.Gln65Ter) rs775248597
NM_000051.3(ATM):c.1960C>T (p.Gln654Ter) rs528165789
NM_000051.3(ATM):c.2080_2081del (p.Leu694fs) rs886039591
NM_000051.3(ATM):c.2115C>G (p.Tyr705Ter) rs876659149
NM_000051.3(ATM):c.2124+1G>T rs1555073553
NM_000051.3(ATM):c.2147T>A (p.Val716Asp) rs864622294
NM_000051.3(ATM):c.2200_2204dup (p.Ile735delinsMetTer) rs1555074976
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2286_2287del (p.Leu762_Phe763insTer) rs1064795831
NM_000051.3(ATM):c.2571_2572del (p.Leu857_Phe858insTer) rs1555082257
NM_000051.3(ATM):c.2583C>A (p.Tyr861Ter) rs886039633
NM_000051.3(ATM):c.2662G>T (p.Glu888Ter) rs879254083
NM_000051.3(ATM):c.2730_2731insAG (p.Ala911fs) rs1064794437
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.3(ATM):c.3284+1G>A rs864622129
NM_000051.3(ATM):c.332-1G>A rs747855862
NM_000051.3(ATM):c.3435_3436delinsA (p.Asp1145fs) rs886039632
NM_000051.3(ATM):c.3532A>T (p.Lys1178Ter) rs1555091359
NM_000051.3(ATM):c.3631del (p.Ala1211fs) rs1064795885
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.3764dup (p.Leu1255fs) rs1555093303
NM_000051.3(ATM):c.3841del (p.Ser1281fs) rs886039621
NM_000051.3(ATM):c.3848T>C (p.Leu1283Pro) rs730881389
NM_000051.3(ATM):c.3852del (p.Asp1285fs) rs886039605
NM_000051.3(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.3(ATM):c.392C>G (p.Ser131Ter) rs1363726955
NM_000051.3(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.3(ATM):c.3996del (p.Ile1332fs) rs1555095807
NM_000051.3(ATM):c.4109+1G>T rs879254034
NM_000051.3(ATM):c.432dup (p.Leu145fs) rs1555059330
NM_000051.3(ATM):c.4332_4337delinsTAAAA (p.Phe1445fs) rs1064795394
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.4405del (p.Ile1469fs) rs886041938
NM_000051.3(ATM):c.4437-1G>A rs759520465
NM_000051.3(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164
NM_000051.3(ATM):c.4776+2_4776+13del rs762838462
NM_000051.3(ATM):c.4879C>T (p.Gln1627Ter) rs886039592
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.5102_5106del (p.Lys1701fs) rs1555104693
NM_000051.3(ATM):c.5192C>G (p.Ser1731Ter) rs886039627
NM_000051.3(ATM):c.5209_5210del (p.Leu1737fs) rs1555105660
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.5416del (p.Trp1805_Ile1806insTer) rs879254041
NM_000051.3(ATM):c.5496+1G>A rs879254180
NM_000051.3(ATM):c.5497-1G>A rs876660245
NM_000051.3(ATM):c.5516dup (p.Thr1840fs) rs879254242
NM_000051.3(ATM):c.5521_5522del (p.Val1841fs) rs1555107293
NM_000051.3(ATM):c.5534del (p.Tyr1844_Leu1845insTer) rs1555107315
NM_000051.3(ATM):c.5745del (p.Asp1914_Tyr1915insTer) rs1555109147
NM_000051.3(ATM):c.5763-2A>T rs876659489
NM_000051.3(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.3(ATM):c.5894_5900dup (p.Met1967fs) rs1555110517
NM_000051.3(ATM):c.5982del (p.Glu1995fs) rs1555111855
NM_000051.3(ATM):c.6013delinsAA (p.Leu2005fs) rs1555113523
NM_000051.3(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.3(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6238T>G (p.Tyr2080Asp) rs1064795467
NM_000051.3(ATM):c.6312G>A (p.Trp2104Ter) rs1555114766
NM_000051.3(ATM):c.6490G>T (p.Glu2164Ter) rs1317619286
NM_000051.3(ATM):c.652C>T (p.Gln218Ter) rs1555066551
NM_000051.3(ATM):c.663-2A>G rs886041931
NM_000051.3(ATM):c.680del (p.Ser226_Ser227insTer) rs879254070
NM_000051.3(ATM):c.6975+2T>C rs879254199
NM_000051.3(ATM):c.6976-2A>C rs587782403
NM_000051.3(ATM):c.7066_7081del (p.Val2355_Ile2356insTer) rs886039502
NM_000051.3(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.3(ATM):c.7328G>A (p.Arg2443Gln) rs587782310
NM_000051.3(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788
NM_000051.3(ATM):c.7629+2T>C rs786203059
NM_000051.3(ATM):c.7699_7702del (p.Asn2567fs) rs1060501547
NM_000051.3(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.3(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.3(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.3(ATM):c.7997C>A (p.Thr2666Asn) rs730881384
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8149A>T (p.Lys2717Ter) rs774334667
NM_000051.3(ATM):c.8152-1G>A rs1398616877
NM_000051.3(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.3(ATM):c.829G>T (p.Glu277Ter) rs876660933
NM_000051.3(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000051.3(ATM):c.8585-13_8598del rs1555139443
NM_000051.3(ATM):c.8585-2A>C rs1060501700
NM_000051.3(ATM):c.875C>T (p.Pro292Leu) rs747727055
NM_000051.3(ATM):c.8793T>A (p.Cys2931Ter) rs1555143494
NM_000051.3(ATM):c.8814_8824del (p.Met2938fs) rs758814126
NM_000051.3(ATM):c.8851-2A>G rs886039647
NM_000051.3(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.3(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000051.3(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511
NM_000051.4(ATM):c.3279_3282del (p.Asn1094fs) rs879254281
NM_000051.4(ATM):c.3926_3929dup (p.Gln1310fs) rs1555093659
NM_000051.4(ATM):c.4084_4085del (p.Ser1362fs) rs886039488
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6866_6867del (p.Val2288_Ser2289insTer) rs886039701
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894
NM_000052.7(ATP7A):c.3137C>T (p.Thr1046Ile) rs1064796648
NM_000052.7(ATP7A):c.3812del (p.Thr1271fs) rs1557238569
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs) rs1176709391
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr) rs1057520235
NM_000053.4(ATP7B):c.2901del (p.Ile968fs) rs1064796054
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser) rs1131691741
NM_000053.4(ATP7B):c.399del (p.Trp133fs) rs1345848733
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110
NM_000053.4(ATP7B):c.697_698del (p.Lys233fs) rs1023530194
NM_000057.4(BLM):c.3445del (p.Lys1148_Leu1149insTer) rs1555424298
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888
NM_000059.3(BRCA2):c.-39-1_-39del rs758732038
NM_000059.3(BRCA2):c.1211dup (p.Asn404fs) rs1555281775
NM_000059.3(BRCA2):c.17_18del (p.Lys6fs) rs80359298
NM_000059.3(BRCA2):c.1909+1G>A rs587781629
NM_000059.3(BRCA2):c.317-2A>G rs1477341630
NM_000059.3(BRCA2):c.425+2T>C rs876661045
NM_000059.3(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.3(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.3(BRCA2):c.7876T>C (p.Trp2626Arg) rs1060502459
NM_000059.3(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.3(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.3(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000059.3(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.3(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.3(BRCA2):c.8170G>T (p.Gly2724Trp) rs1057521184
NM_000059.3(BRCA2):c.8344_8351delinsCA (p.Ser2782_Arg2784delinsGln) rs1064795286
NM_000059.3(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075
NM_000059.3(BRCA2):c.8754+3G>C rs397508007
NM_000059.3(BRCA2):c.8755-1G>C rs81002812
NM_000059.3(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del) rs80359736
NM_000059.3(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.3(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.3(BRCA2):c.9513_9516del (p.Leu3172fs) rs80359769
NM_000059.3(BRCA2):c.9588del (p.Asp3197fs) rs876661285
NM_000059.3(BRCA2):c.9591del (p.Cys3198fs) rs1555289787
NM_000059.3(BRCA2):c.9633dup (p.Gly3212fs) rs1555289805
NM_000059.3(BRCA2):c.9676del (p.Tyr3226fs) rs80359774
NM_000059.3(BRCA2):c.9711del (p.Lys3238fs) rs1555289923
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=) rs80359803
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter) rs80359230
NM_000061.2(BTK):c.-31+5G>T rs1131691354
NM_000061.2(BTK):c.1688G>T (p.Trp563Leu) rs1555977474
NM_000061.2(BTK):c.1697C>T (p.Pro566Leu) rs1057521814
NM_000061.2(BTK):c.1757T>C (p.Leu586Ser) rs1064796809
NM_000061.2(BTK):c.1760T>C (p.Met587Thr) rs886039321
NM_000061.2(BTK):c.1771del (p.Tyr591fs) rs1555977341
NM_000061.2(BTK):c.1805C>T (p.Thr602Ile) rs1057521116
NM_000061.2(BTK):c.1888A>C (p.Met630Leu) rs1064794904
NM_000061.2(BTK):c.1978T>G (p.Ter660Gly) rs1085307927
NM_000061.2(BTK):c.370T>C (p.Trp124Arg) rs7474275
NM_000061.3(BTK):c.903AGG[1] (p.Gly303del) rs1064794285
NM_000062.2(SERPING1):c.1458_1465delinsA (p.His486fs) rs1554996859
NM_000062.2(SERPING1):c.51+5G>T rs1554994665
NM_000062.2(SERPING1):c.512C>T (p.Pro171Leu) rs1064793350
NM_000062.2(SERPING1):c.550G>A (p.Gly184Arg) rs281875170
NM_000062.2(SERPING1):c.752T>C (p.Leu251Pro) rs1554995774
NM_000062.2(SERPING1):c.871A>C (p.Asn291His) rs1057520366
NM_000062.3(SERPING1):c.1353_1354del (p.Glu451fs) rs1554996833
NM_000062.3(SERPING1):c.1409del (p.Val470fs) rs1590831492
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721
NM_000069.3(CACNA1S):c.1269G>A (p.Trp423Ter) rs1558075630
NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs) rs1553248947
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter) rs148317787
NM_000070.3(CAPN3):c.1053del (p.Lys352fs) rs1595828589
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905
NM_000070.3(CAPN3):c.1115+5G>C rs886039597
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.3(CAPN3):c.1722del (p.Ser575fs) rs1366387924
NM_000070.3(CAPN3):c.2327A>G (p.Asn776Ser) rs1085307534
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964
NM_000070.3(CAPN3):c.742_743del (p.Met248fs) rs1064793620
NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg) rs1085307995
NM_000071.2(CBS):c.1051G>C (p.Gly351Arg) rs774926464
NM_000071.2(CBS):c.1087del (p.Glu363fs) rs1064794540
NM_000071.2(CBS):c.1109G>A (p.Cys370Tyr) rs757920190
NM_000071.2(CBS):c.1223G>A (p.Trp408Ter) rs863223433
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.340G>A (p.Ala114Thr) rs377708532
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.572C>A (p.Thr191Lys) rs121964973
NM_000074.2(CD40LG):c.107T>A (p.Met36Lys) rs104894774
NM_000074.2(CD40LG):c.418T>G (p.Trp140Gly) rs104894777
NM_000074.2(CD40LG):c.431G>A (p.Gly144Glu) rs886039326
NM_000074.2(CD40LG):c.440C>A (p.Thr147Asn) rs1057521127
NM_000074.2(CD40LG):c.464T>A (p.Leu155Gln) rs104894769
NM_000074.2(CD40LG):c.478del (p.Gln160fs) rs1057518628
NM_000074.2(CD40LG):c.767T>C (p.Phe256Ser) rs1057521128
NM_000074.3(CD40LG):c.375del (p.His125fs) rs1603321154
NM_000077.4(CDKN2A):c.146T>G (p.Ile49Ser) rs199907548
NM_000077.4(CDKN2A):c.212A>G (p.Asn71Ser) rs559848002
NM_000077.4(CDKN2A):c.251A>C (p.Asp84Ala) rs587782792
NM_000077.4(CDKN2A):c.259C>T (p.Arg87Trp) rs749714198
NM_000077.4(CDKN2A):c.68G>A (p.Gly23Asp) rs1064794292
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000078.3(CETP):c.953_962del (p.Phe318fs) rs779824367
NM_000080.4(CHRNE):c.1244_1257del (p.Ala415fs) rs1555546224
NM_000080.4(CHRNE):c.1434C>A (p.Tyr478Ter) rs763943642
NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?) rs1555546038
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000080.4(CHRNE):c.587_588del (p.Thr196fs) rs1555546858
NM_000080.4(CHRNE):c.715A>C (p.Lys239Gln) rs746993242
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000080.4(CHRNE):c.853del (p.Val285fs) rs1445801336
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000080.4(CHRNE):c.914G>A (p.Gly305Asp) rs919271118
NM_000082.3(ERCC8):c.400-1G>A rs1057520280
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.580T>C (p.Trp194Arg) rs1554073311
NM_000082.4(ERCC8):c.350C>A (p.Ser117Ter) rs545036754
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala) rs1085307989
NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter) rs1554436799
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.3(CLCN1):c.1663C>T (p.His555Tyr) rs201850090
NM_000083.3(CLCN1):c.1966del (p.Glu656fs) rs1586514992
NM_000083.3(CLCN1):c.2017_2018del (p.Ala673fs) rs1586515112
NM_000083.3(CLCN1):c.2058C>G (p.Tyr686Ter) rs1417174086
NM_000083.3(CLCN1):c.2403+5G>A rs1474520642
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.378dup (p.Leu127fs) rs1320040467
NM_000083.3(CLCN1):c.707T>C (p.Val236Ala) rs1064794643
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly) rs1554436427
NM_000085.4(CLCNKB):c.359G>T (p.Gly120Val) rs1057521154
NM_000086.2(CLN3):c.1004C>A (p.Ser335Tyr) rs765157752
NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_000086.2(CLN3):c.141del (p.Leu46_Cys47insTer) rs1064795153
NM_000086.2(CLN3):c.750del (p.Gln251fs) rs1064796502
NM_000086.2(CLN3):c.962+3A>T rs796052336
NM_000087.4(CNGA1):c.830G>A (p.Arg277Gln) rs371238926
NM_000088.3(COL1A1):c.1155+3_1155+6del rs72648316
NM_000088.3(COL1A1):c.1462G>A (p.Gly488Ser) rs1328384458
NM_000088.3(COL1A1):c.1547del (p.Pro516fs) rs1555573734
NM_000088.3(COL1A1):c.1635_1643del (p.543_545SPG[1]) rs1064796341
NM_000088.3(COL1A1):c.2049_2050del (p.Glu684fs) rs1555573111
NM_000088.3(COL1A1):c.3099+1G>A rs1555572316
NM_000088.3(COL1A1):c.3106C>T (p.Arg1036Cys) rs72653177
NM_000088.3(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799
NM_000088.3(COL1A1):c.4245C>A (p.Cys1415Ter) rs1555571589
NM_000088.4(COL1A1):c.1044del (p.Val349fs) rs1598297666
NM_000089.3(COL1A2):c.226-2A>G rs72656355
NM_000089.3(COL1A2):c.2531G>C (p.Gly844Ala) rs928361235
NM_000089.3(COL1A2):c.2584G>A (p.Gly862Ser) rs1554398126
NM_000089.3(COL1A2):c.2958del (p.Val987fs) rs1064793527
NM_000089.3(COL1A2):c.401del (p.Pro134fs) rs1057518136
NM_000089.3(COL1A2):c.432+1G>A rs1554395431
NM_000089.4(COL1A2):c.1069_1070del (p.Ser357fs) rs1131691888
NM_000089.4(COL1A2):c.2533dup (p.Glu845fs) rs1584328014
NM_000089.4(COL1A2):c.3765del (p.Phe1256fs) rs1584332692
NM_000090.3(COL3A1):c.1061_1062insTA (p.Pro355fs) rs1553507793
NM_000090.3(COL3A1):c.1223G>A (p.Gly408Glu) rs794728043
NM_000090.3(COL3A1):c.1267G>A (p.Gly423Ser) rs587779631
NM_000090.3(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000090.3(COL3A1):c.1484G>C (p.Gly495Ala) rs1057524653
NM_000090.3(COL3A1):c.1673_1722del (p.Gly558fs) rs1553508231
NM_000090.3(COL3A1):c.1978-1G>C rs1064796733
NM_000090.3(COL3A1):c.1988G>T (p.Gly663Val) rs587779454
NM_000090.3(COL3A1):c.2123G>C (p.Gly708Ala) rs111929073
NM_000090.3(COL3A1):c.2132G>T (p.Gly711Val) rs794728049
NM_000090.3(COL3A1):c.2464G>A (p.Gly822Ser) rs794728051
NM_000090.3(COL3A1):c.2582G>A (p.Gly861Asp) rs1064796468
NM_000090.3(COL3A1):c.2608-2A>C rs1057523593
NM_000090.3(COL3A1):c.2689G>A (p.Gly897Ser) rs794728054
NM_000090.3(COL3A1):c.2752G>A (p.Gly918Arg) rs1085307896
NM_000090.3(COL3A1):c.282+1G>C rs1131692024
NM_000090.3(COL3A1):c.2996G>T (p.Gly999Val) rs1085307964
NM_000090.3(COL3A1):c.3077G>T (p.Gly1026Val) rs1553509404
NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG
NM_000090.3(COL3A1):c.3329G>A (p.Gly1110Glu) rs794728055
NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp) rs587779639
NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
NM_000090.3(COL3A1):c.4175T>G (p.Leu1392Arg) rs1553509934
NM_000090.3(COL3A1):c.528+5G>C rs794728038
NM_000090.3(COL3A1):c.565G>A (p.Gly189Ser) rs587779507
NM_000090.3(COL3A1):c.622C>T (p.Gln208Ter) rs746358771
NM_000090.3(COL3A1):c.798_799delAG
NM_000090.3(COL3A1):c.842C>A (p.Pro281His) rs794728039
NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp) rs587779588
NM_000091.4(COL4A3):c.1184G>A (p.Gly395Glu) rs1131691738
NM_000091.4(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668
NM_000091.4(COL4A3):c.2012G>A (p.Gly671Asp) rs1085307955
NM_000091.4(COL4A3):c.3068_3069del (p.Pro1023fs) rs1064796094
NM_000091.4(COL4A3):c.3643C>T (p.Arg1215Ter) rs368434069
NM_000091.4(COL4A3):c.3882+5G>A rs1553764454
NM_000092.4(COL4A4):c.1033delG rs1553681700
NM_000092.4(COL4A4):c.675dup (p.Gly226fs) rs1553688335
NM_000092.5(COL4A4):c.4216+1del rs1064796549
NM_000093.5(COL5A1):c.4844_4845del (p.Leu1615fs) rs1554808136
NM_000094.3(COL7A1):c.3551-3T>G rs773263825
NM_000094.3(COL7A1):c.4600G>A (p.Gly1534Arg) rs1553860378
NM_000094.3(COL7A1):c.6005G>A (p.Arg2002His) rs768326843
NM_000094.3(COL7A1):c.6855_6881del (p.Val2286_Pro2294del) rs1553853012
NM_000094.3(COL7A1):c.846G>A (p.Glu282=) rs770216458
NM_000094.4(COL7A1):c.7349del (p.Pro2450fs) rs1575425011
NM_000094.4(COL7A1):c.7864C>T rs139318843
NM_000095.3(COMP):c.1021_1026del (p.Glu341_Asp342del) rs1064794294
NM_000095.3(COMP):c.1112G>A (p.Cys371Tyr) rs1057521130
NM_000095.3(COMP):c.1195G>A (p.Asp399Asn) rs1555791490
NM_000095.3(COMP):c.1222G>A (p.Asp408Asn) rs886042932
NM_000095.3(COMP):c.1322A>G (p.His441Arg) rs1131691682
NM_000095.3(COMP):c.1502G>A (p.Gly501Asp) rs1555791425
NM_000095.3(COMP):c.1533C>G (p.Asp511Glu) rs1064794293
NM_000095.3(COMP):c.1569C>A (p.Asn523Lys) rs137852654
NM_000095.3(COMP):c.1760A>G (p.His587Arg) rs312262901
NM_000095.3(COMP):c.762+1G>A rs755374221
NM_000095.3(COMP):c.811G>C (p.Asp271His) rs1131691835
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158
NM_000096.4(CP):c.607+1del rs753254095
NM_000096.4(CP):c.928C>G (p.Arg310Gly) rs767161351
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu) rs121917868
NM_000097.7(CPOX):c.939dup (p.Lys314fs) rs1553696121
NM_000098.3(CPT2):c.371G>C (p.Arg124Pro) rs1131691925
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177
NM_000100.3(CSTB):c.1_2insAT (p.Met1fs) rs1044894207
NM_000103.4(CYP19A1):c.380T>C (p.Met127Thr) rs1057518574
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys) rs763303046
NM_000108.5(DLD):c.182C>T (p.Ala61Val) rs796051947
NM_000108.5(DLD):c.185A>G (p.Gln62Arg) rs796051948
NM_000110.3(DPYD):c.1243G>T (p.Glu415Ter) rs755031341
NM_000110.3(DPYD):c.1681C>T (p.Arg561Ter) rs1057516968
NM_000110.3(DPYD):c.2135del (p.Pro712fs) rs1064796552
NM_000110.3(DPYD):c.2767-1G>A rs377221676
NM_000112.3(SLC26A2):c.1831del (p.Val611fs) rs1057518327
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg) rs794729173
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.778-2A>G rs876661112
NM_000118.3(ENG):c.1145G>A (p.Cys382Tyr) rs1131691931
NM_000118.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_000118.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_000118.3(ENG):c.1657del (p.Leu553fs) rs1064794218
NM_000118.3(ENG):c.360+5G>C rs1060501417
NM_000118.3(ENG):c.374T>A (p.Val125Asp) rs750115837
NM_000118.3(ENG):c.583del (p.Glu195fs) rs1554810413
NM_000118.3(ENG):c.895del (p.Leu299fs) rs1064795636
NM_000118.3(ENG):c.896_991+90del rs1554810125
NM_000121.4(EPOR):c.244C>T (p.Gln82Ter) rs370865377
NM_000121.4(EPOR):c.465_481dup (p.His161fs) rs1555716523
NM_000122.1(ERCC3):c.325C>T (p.Arg109Ter) rs34295337
NM_000124.4(ERCC6):c.1646T>C (p.Leu549Pro) rs1064795562
NM_000124.4(ERCC6):c.1820A>G (p.Lys607Arg) rs200832611
NM_000124.4(ERCC6):c.4415del (p.Asn1472fs) rs1131691890
NM_000127.2(EXT1):c.1015_1017del (p.Gly339del) rs1057518031
NM_000127.2(EXT1):c.1021A>T (p.Arg341Trp) rs1554580149
NM_000127.2(EXT1):c.1164+1del rs1057518623
NM_000127.2(EXT1):c.1537-2A>C rs1554578710
NM_000127.2(EXT1):c.579dup (p.Asn194Ter) rs1554601519
NM_000127.2(EXT1):c.802G>C (p.Gly268Arg) rs1554601492
NM_000127.2(EXT1):c.803G>A (p.Gly268Glu) rs886039352
NM_000128.3(F11):c.1199C>T (p.Pro400Leu) rs533335580
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000130.4(F5):c.5403dup (p.Ser1802fs) rs757917115
NM_000135.4(FANCA):c.1489C>T (p.Pro497Ser) rs1057521855
NM_000135.4(FANCA):c.1776+1G>A rs756140957
NM_000135.4(FANCA):c.2667del (p.Ser890fs) rs1555545517
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062
NM_000135.4(FANCA):c.709+1G>C rs753211631
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs) rs1064795597
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) rs867319477
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.175dup (p.Thr59fs) rs1554857855
NM_000136.3(FANCC):c.368C>G (p.Ser123Ter) rs1554842855
NM_000136.3(FANCC):c.388G>T (p.Glu130Ter) rs876661231
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987
NM_000136.3(FANCC):c.595del (p.Leu199fs) rs1057519366
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter) rs776054094
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_000137.3(FAH):c.107T>C (p.Ile36Thr) rs774648934
NM_000138.4(FBN1):c.1091G>C (p.Arg364Pro) rs536588176
NM_000138.4(FBN1):c.1148-1G>A rs1555400431
NM_000138.4(FBN1):c.1420T>C (p.Cys474Arg) rs1555400380
NM_000138.4(FBN1):c.1481G>A (p.Cys494Tyr) rs1057518881
NM_000138.4(FBN1):c.1522C>T (p.Gln508Ter) rs1057521859
NM_000138.4(FBN1):c.1552G>A (p.Gly518Arg) rs794728168
NM_000138.4(FBN1):c.1570dup (p.Thr524fs) rs1555400274
NM_000138.4(FBN1):c.1606C>T (p.Gln536Ter) rs1479709398
NM_000138.4(FBN1):c.1670G>A (p.Cys557Tyr) rs1057521102
NM_000138.4(FBN1):c.1774G>T (p.Gly592Cys) rs1057521211
NM_000138.4(FBN1):c.1783A>T (p.Lys595Ter) rs1555399958
NM_000138.4(FBN1):c.1846G>T (p.Glu616Ter) rs397515764
NM_000138.4(FBN1):c.2113+2T>G rs730880105
NM_000138.4(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.4(FBN1):c.2153C>T (p.Thr718Met) rs777526851
NM_000138.4(FBN1):c.2227C>T (p.Arg743Cys) rs794728188
NM_000138.4(FBN1):c.2243G>A (p.Cys748Tyr) rs1064794282
NM_000138.4(FBN1):c.2293+5G>A rs794728327
NM_000138.4(FBN1):c.2627G>A (p.Cys876Tyr) rs794728193
NM_000138.4(FBN1):c.2639G>A (p.Gly880Asp) rs886038953
NM_000138.4(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.4(FBN1):c.2677+5G>C rs1085307946
NM_000138.4(FBN1):c.2723G>C (p.Cys908Ser) rs1057523406
NM_000138.4(FBN1):c.2737G>A (p.Glu913Lys) rs1555398996
NM_000138.4(FBN1):c.287G>C (p.Arg96Thr) rs794728291
NM_000138.4(FBN1):c.2934dup (p.Ala979fs) rs1555398821
NM_000138.4(FBN1):c.2945G>C (p.Cys982Ser) rs1057524458
NM_000138.4(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.4(FBN1):c.305G>T (p.Cys102Phe) rs794728292
NM_000138.4(FBN1):c.306C>A (p.Cys102Ter) rs25388
NM_000138.4(FBN1):c.3082G>A (p.Asp1028Asn) rs1555398769
NM_000138.4(FBN1):c.3083A>G (p.Asp1028Gly) rs1131691317
NM_000138.4(FBN1):c.3094T>C (p.Cys1032Arg) rs1555398684
NM_000138.4(FBN1):c.3131G>T (p.Cys1044Phe) rs730880100
NM_000138.4(FBN1):c.3145G>T (p.Gly1049Cys) rs778181932
NM_000138.4(FBN1):c.3184G>A (p.Asp1062Asn) rs758366498
NM_000138.4(FBN1):c.3283T>A (p.Cys1095Ser) rs1064793113
NM_000138.4(FBN1):c.3289T>C (p.Cys1097Arg) rs1131691578
NM_000138.4(FBN1):c.3374G>A (p.Arg1125Gln) rs768831064
NM_000138.4(FBN1):c.3380G>T (p.Gly1127Val) rs1064794882
NM_000138.4(FBN1):c.3401dup (p.Ser1135fs) rs794728342
NM_000138.4(FBN1):c.3450_3458delinsGTCCGCGTT (p.Ile1150_Cys1153delinsMetSerAlaPhe) rs1064796522
NM_000138.4(FBN1):c.3475T>A (p.Cys1159Ser) rs794728205
NM_000138.4(FBN1):c.3496T>C (p.Cys1166Arg) rs1064794796
NM_000138.4(FBN1):c.3596A>G (p.Asp1199Gly) rs794728206
NM_000138.4(FBN1):c.3635G>C (p.Cys1212Ser) rs1057522908
NM_000138.4(FBN1):c.3668G>T (p.Cys1223Phe) rs137854469
NM_000138.4(FBN1):c.3761G>A (p.Cys1254Tyr) rs1131691805
NM_000138.4(FBN1):c.3789C>G (p.Cys1263Trp) rs1057518444
NM_000138.4(FBN1):c.3838G>A (p.Asp1280Asn) rs794728210
NM_000138.4(FBN1):c.3839-5_3842del rs1555398178
NM_000138.4(FBN1):c.3851G>A (p.Cys1284Tyr) rs1555398173
NM_000138.4(FBN1):c.386del (p.Cys129fs) rs1555405046
NM_000138.4(FBN1):c.3977G>A (p.Cys1326Tyr) rs1555397738
NM_000138.4(FBN1):c.4094A>G (p.Asp1365Gly) rs794728217
NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.4(FBN1):c.4138T>C (p.Cys1380Arg) rs1131691588
NM_000138.4(FBN1):c.4146T>A (p.Asn1382Lys) rs794728218
NM_000138.4(FBN1):c.4210G>A (p.Asp1404Asn) rs794728220
NM_000138.4(FBN1):c.4211-1G>A rs1057523796
NM_000138.4(FBN1):c.4252G>T (p.Gly1418Cys) rs1064793114
NM_000138.4(FBN1):c.4259G>T (p.Cys1420Phe) rs397515804
NM_000138.4(FBN1):c.4265A>G (p.Asn1422Ser) rs1057517910
NM_000138.4(FBN1):c.4280A>G (p.Tyr1427Cys) rs1555397548
NM_000138.4(FBN1):c.4331G>A (p.Cys1444Tyr) rs886038940
NM_000138.4(FBN1):c.4336G>A (p.Asp1446Asn) rs794728221
NM_000138.4(FBN1):c.4382G>C (p.Cys1461Ser) rs1057522902
NM_000138.4(FBN1):c.4382G>T (p.Cys1461Phe) rs1057522902
NM_000138.4(FBN1):c.442+1G>A rs868403743
NM_000138.4(FBN1):c.4447G>A (p.Gly1483Arg) rs794728223
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.4489T>C (p.Cys1497Arg) rs1555397213
NM_000138.4(FBN1):c.4520G>A (p.Gly1507Asp) rs794728225
NM_000138.4(FBN1):c.4532G>A (p.Cys1511Tyr) rs1060501074
NM_000138.4(FBN1):c.4575del (p.Cys1526fs) rs1555397198
NM_000138.4(FBN1):c.461G>C (p.Cys154Ser) rs1057521103
NM_000138.4(FBN1):c.4688G>C (p.Cys1563Ser) rs1131691871
NM_000138.4(FBN1):c.4831C>T (p.Gln1611Ter) rs1555397004
NM_000138.4(FBN1):c.4936T>G (p.Cys1646Gly) rs1064793115
NM_000138.4(FBN1):c.5177G>A (p.Gly1726Asp) rs1064797059
NM_000138.4(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.4(FBN1):c.5285G>T (p.Gly1762Val) rs1057524697
NM_000138.4(FBN1):c.5422+1G>A rs1064793116
NM_000138.4(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.4(FBN1):c.5443G>A (p.Gly1815Ser) rs745680336
NM_000138.4(FBN1):c.5470T>C (p.Cys1824Arg) rs1131691478
NM_000138.4(FBN1):c.5680G>A (p.Glu1894Lys) rs1057521101
NM_000138.4(FBN1):c.5767T>C (p.Ser1923Pro) rs794728239
NM_000138.4(FBN1):c.5825G>T (p.Cys1942Phe) rs794728241
NM_000138.4(FBN1):c.5839T>C (p.Cys1947Arg) rs1131691938
NM_000138.4(FBN1):c.5993G>A (p.Cys1998Tyr) rs1085307531
NM_000138.4(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.4(FBN1):c.6037+2_6037+24del rs1555395636
NM_000138.4(FBN1):c.6086G>A (p.Cys2029Tyr) rs1057517855
NM_000138.4(FBN1):c.60C>A (p.Tyr20Ter) rs1057524735
NM_000138.4(FBN1):c.6112T>G (p.Cys2038Gly) rs1064796731
NM_000138.4(FBN1):c.6113G>A (p.Cys2038Tyr) rs363804
NM_000138.4(FBN1):c.6206del (p.Lys2069fs) rs1057518034
NM_000138.4(FBN1):c.6277G>A (p.Gly2093Arg) rs1064793117
NM_000138.4(FBN1):c.629G>A (p.Cys210Tyr) rs1085307468
NM_000138.4(FBN1):c.6332G>A (p.Cys2111Tyr) rs1131691467
NM_000138.4(FBN1):c.6403G>A (p.Asp2135Asn) rs746167150
NM_000138.4(FBN1):c.6418G>A (p.Gly2140Arg) rs794728249
NM_000138.4(FBN1):c.6419G>A (p.Gly2140Glu) rs1064793118
NM_000138.4(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.4(FBN1):c.6496G>T (p.Asp2166Tyr) rs794728252
NM_000138.4(FBN1):c.6499A>C (p.Thr2167Pro) rs373510719
NM_000138.4(FBN1):c.6503A>G (p.Asp2168Gly) rs1555395015
NM_000138.4(FBN1):c.6541T>C (p.Cys2181Arg) rs1131691373
NM_000138.4(FBN1):c.6596del (p.Gly2199fs) rs1555395004
NM_000138.4(FBN1):c.6628T>C (p.Cys2210Arg) rs794728253
NM_000138.4(FBN1):c.6650G>A (p.Cys2217Tyr) rs794728254
NM_000138.4(FBN1):c.6656T>G (p.Phe2219Cys) rs397515837
NM_000138.4(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.4(FBN1):c.6724C>T (p.Arg2242Cys) rs779749926
NM_000138.4(FBN1):c.6793T>G (p.Cys2265Gly) rs1057522272
NM_000138.4(FBN1):c.6794G>A (p.Cys2265Tyr) rs1057520679
NM_000138.4(FBN1):c.6917G>A (p.Arg2306His) rs770443276
NM_000138.4(FBN1):c.6982C>T (p.Gln2328Ter) rs371097218
NM_000138.4(FBN1):c.700_702delinsTGT (p.Gly234Cys) rs794728293
NM_000138.4(FBN1):c.7132T>C (p.Cys2378Arg) rs794728267
NM_000138.4(FBN1):c.7204G>C (p.Asp2402His) rs1057524757
NM_000138.4(FBN1):c.7217G>A (p.Cys2406Tyr) rs1131691479
NM_000138.4(FBN1):c.722C>T (p.Thr241Met) rs747049980
NM_000138.4(FBN1):c.7246G>A (p.Gly2416Arg) rs794728269
NM_000138.4(FBN1):c.7253G>A (p.Cys2418Tyr) rs794728270
NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464
NM_000138.4(FBN1):c.736+1G>A rs1064796866
NM_000138.4(FBN1):c.7364G>A (p.Cys2455Tyr) rs1555394409
NM_000138.4(FBN1):c.737-2A>G rs1131691772
NM_000138.4(FBN1):c.7376G>A (p.Cys2459Tyr) rs1555394406
NM_000138.4(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.4(FBN1):c.7432_7435del (p.Glu2478fs) rs1057518012
NM_000138.4(FBN1):c.7454A>G (p.Asp2485Gly) rs1085307921
NM_000138.4(FBN1):c.7499G>A (p.Cys2500Tyr) rs794728160
NM_000138.4(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.4(FBN1):c.7531T>C (p.Cys2511Arg) rs794728272
NM_000138.4(FBN1):c.7600C>A (p.Leu2534Met) rs794728274
NM_000138.4(FBN1):c.7708G>A (p.Glu2570Lys) rs886038786
NM_000138.4(FBN1):c.7770C>G (p.Cys2590Trp) rs1064796667
NM_000138.4(FBN1):c.7775G>T (p.Cys2592Phe) rs112118237
NM_000138.4(FBN1):c.7832G>A (p.Cys2611Tyr) rs794728337
NM_000138.4(FBN1):c.7862C>G (p.Ser2621Cys) rs1085307887
NM_000138.4(FBN1):c.7879G>C (p.Gly2627Arg) rs193922239
NM_000138.4(FBN1):c.7880G>A (p.Gly2627Glu) rs1555393875
NM_000138.4(FBN1):c.7931_7934dup (p.Cys2646fs) rs1555393865
NM_000138.4(FBN1):c.8002G>T (p.Gly2668Cys) rs1057521100
NM_000138.4(FBN1):c.8005G>T (p.Gly2669Cys) rs794728281
NM_000138.4(FBN1):c.8006G>T (p.Gly2669Val) rs886038869
NM_000138.4(FBN1):c.8021G>A (p.Cys2674Tyr) rs1555393827
NM_000138.4(FBN1):c.8021G>C (p.Cys2674Ser) rs1555393827
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.4(FBN1):c.811T>G (p.Cys271Gly) rs1060501019
NM_000138.4(FBN1):c.8170C>T (p.Pro2724Ser) rs1085307904
NM_000138.4(FBN1):c.8275G>T (p.Glu2759Ter) rs1057518023
NM_000138.4(FBN1):c.8360dup (p.Thr2788fs) rs1555393548
NM_000138.4(FBN1):c.8422del (p.Gln2808fs) rs1131691692
NM_000138.4(FBN1):c.8521G>T (p.Glu2841Ter) rs587782948
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.2645C>T rs794728195
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg) rs397515797
NM_000138.5(FBN1):c.4036_4037insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT (p.Phe1346delinsTyrIleTer) rs1597554086
NM_000138.5(FBN1):c.6119_6120del (p.Cys2040fs) rs1057517851
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=) rs112989722
NM_000138.5(FBN1):c.6453C>T rs794728251
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr) rs397515859
NM_000141.5(FGFR2):c.1142A>G (p.Tyr381Cys) rs1064796452
NM_000141.5(FGFR2):c.1757_1758delinsGA (p.Tyr586Ter) rs1554914180
NM_000141.5(FGFR2):c.1925T>A (p.Ile642Lys) rs1064796413
NM_000142.5(FGFR3):c.1052C>G (p.Ser351Cys) rs1057517964
NM_000142.5(FGFR3):c.2407_*5delinsCCCTG (p.Gly803_Ter807delinsProXaa) rs1064796266
NM_000143.3(FH):c.1020T>A (p.Asn340Lys) rs398123159
NM_000143.3(FH):c.1048C>T (p.Arg350Trp) rs755436052
NM_000143.3(FH):c.1104_1106delinsACT (p.Met368_Pro369delinsIleLeu) rs863223987
NM_000143.3(FH):c.1108+1G>T rs1057517734
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.3(FH):c.1144A>G (p.Met382Val) rs886039365
NM_000143.3(FH):c.1146G>A (p.Met382Ile) rs863224006
NM_000143.3(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.3(FH):c.1250T>G (p.Leu417Ter) rs1553340709
NM_000143.3(FH):c.1268T>G (p.Leu423Arg) rs863224009
NM_000143.3(FH):c.1302C>A (p.Cys434Ter) rs2070080
NM_000143.3(FH):c.1391-2del rs1064795320
NM_000143.3(FH):c.1394A>G (p.Tyr465Cys) rs863224010
NM_000143.3(FH):c.1445T>G (p.Leu482Ter) rs1064796708
NM_000143.3(FH):c.1446A>C (p.Leu482Phe) rs863223979
NM_000143.3(FH):c.1486C>T (p.Gln496Ter) rs1553340506
NM_000143.3(FH):c.1A>G (p.Met1Val) rs776806414
NM_000143.3(FH):c.302G>C (p.Arg101Pro) rs75086406
NM_000143.3(FH):c.473G>A (p.Ser158Asn) rs1060500902
NM_000143.3(FH):c.504del (p.Glu168fs) rs776190273
NM_000143.3(FH):c.527A>G (p.His176Arg) rs1158759883
NM_000143.3(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.3(FH):c.555+1G>A rs1375252870
NM_000143.3(FH):c.555+5G>C rs1553341582
NM_000143.3(FH):c.566A>T (p.Asp189Val) rs1064793125
NM_000143.3(FH):c.584T>C (p.Met195Thr) rs863223965
NM_000143.3(FH):c.703C>T (p.His235Tyr) rs863223968
NM_000143.3(FH):c.706A>G (p.Thr236Ala) rs1064793126
NM_000143.3(FH):c.774_794dup (p.Thr260_Met266dup) rs863223984
NM_000143.3(FH):c.809_810del (p.Ile269_Tyr270insTer) rs1553341163
NM_000143.3(FH):c.81delinsAT (p.Leu28fs) rs1553342155
NM_000143.3(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.3(FH):c.923C>G (p.Ala308Gly) rs1057524385
NM_000143.3(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.3(FH):c.937G>A (p.Glu313Lys) rs863224001
NM_000143.3(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000143.3(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000145.3(FSHR):c.479T>C (p.Ile160Thr) rs121909659
NM_000146.4(FTL):c.370_373del (p.Pro124fs) rs1555797129
NM_000147.4(FUCA1):c.1034G>A (p.Gly345Glu) rs1057521087
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275
NM_000152.5(GAA):c.1501_1515del (p.Asp501_Glu505del) rs1064794524
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr) rs892129065
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter) rs1057518106
NM_000152.5(GAA):c.2061del (p.Phe687fs) rs1064796706
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys) rs1057524664
NM_000152.5(GAA):c.727G>A (p.Asp243Asn) rs1555599600
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000153.4(GALC):c.1031C>G (p.Ser344Ter) rs1555381559
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.155del (p.Gly52fs) rs1064793131
NM_000153.4(GALC):c.173del (p.Ile58fs) rs1064795927
NM_000153.4(GALC):c.1897dup (p.Thr633fs) rs1555378538
NM_000153.4(GALC):c.195+1G>A rs1009872980
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.157T>A (p.Trp53Arg) rs1131691837
NM_000155.4(GALT):c.299C>G (p.Pro100Arg) rs1057524572
NM_000155.4(GALT):c.329G>A (p.Gly110Glu) rs1057523885
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.893T>C (p.Met298Thr) rs886042064
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986
NM_000156.6(GAMT):c.317A>C (p.Gln106Pro) rs145817990
NM_000156.6(GAMT):c.328G>T (p.Val110Phe) rs753198836
NM_000156.6(GAMT):c.410A>C (p.Tyr137Ser) rs1131691930
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter) rs1057524499
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup) rs779931959
NM_000156.6(GAMT):c.526G>T (p.Glu176Ter) rs796052525
NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA):c.764T>A (p.Phe255Tyr) rs74500255
NM_000157.4(GBA):c.860G>T (p.Cys287Phe) rs1057524702
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694
NM_000159.4(GCDH):c.1173del (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430
NM_000159.4(GCDH):c.956+5G>A rs1131691319
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) rs794726972
NM_000161.3(GCH1):c.301G>A (p.Ala101Thr) rs1064796560
NM_000161.3(GCH1):c.395T>C (p.Val132Ala) rs1555360034
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969
NM_000161.3(GCH1):c.610del (p.Gly203_Val204insTer) rs886039378
NM_000162.3:c.1255_1264delTTCAAGGAGC
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1099G>A (p.Val367Met) rs1057521092
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del) rs1131691505
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1155del (p.Leu386fs) rs1400535021
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1339del (p.Arg447fs) rs1064795242
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.171G>A (p.Met57Ile) rs1057520109
NM_000162.5(GCK):c.238G>A (p.Gly80Ser) rs1554335761
NM_000162.5(GCK):c.25G>T (p.Glu9Ter) rs1131691483
NM_000162.5(GCK):c.364-1G>A rs1057521094
NM_000162.5(GCK):c.635_637del (p.Ser212del) rs193922314
NM_000162.5(GCK):c.703A>G (p.Met235Val) rs1057521093
NM_000162.5(GCK):c.730G>A (p.Val244Met) rs1240035630
NM_000162.5(GCK):c.757G>A (p.Val253Ile) rs748964205
NM_000162.5(GCK):c.757G>T (p.Val253Phe) rs748964205
NM_000162.5(GCK):c.762T>A (p.Asn254Lys) rs1554335141
NM_000162.5(GCK):c.766G>C (p.Glu256Gln) rs769268803
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331
NM_000162.5(GCK):c.871A>G (p.Lys291Glu) rs193922335
NM_000163.5(GHR):c.555_558delinsGGG (p.Trp187fs) rs1579636931
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000165.5(GJA1):c.991del (p.His331fs) rs1554201088
NM_000166.6(GJB1):c.113T>G (p.Val38Gly) rs863224612
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys) rs879253935
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu) rs876661269
NM_000166.6(GJB1):c.178T>C (p.Cys60Arg) rs1060501004
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala) rs878853697
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.241C>G (p.Leu81Val) rs876661143
NM_000166.6(GJB1):c.307A>G (p.Lys103Glu) rs1131691322
NM_000166.6(GJB1):c.324dup (p.Glu109Ter) rs1555937143
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn) rs876661119
NM_000166.6(GJB1):c.376C>T (p.His126Tyr) rs879253995
NM_000166.6(GJB1):c.392T>G (p.Leu131Arg) rs1555937166
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu) rs1555937180
NM_000166.6(GJB1):c.439G>A (p.Ala147Thr) rs760123011
NM_000166.6(GJB1):c.526_555dup (p.Thr176_Thr185dup) rs1555937221
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.542T>A (p.Val181Glu) rs876661252
NM_000166.6(GJB1):c.566T>G (p.Val189Gly) rs1064794244
NM_000166.6(GJB1):c.605T>A (p.Ile202Asn) rs1131691258
NM_000166.6(GJB1):c.610C>A (p.Leu204Ile) rs1064795540
NM_000166.6(GJB1):c.626T>G (p.Val209Gly) rs1064795785
NM_000166.6(GJB1):c.644G>C (p.Arg215Pro) rs864622215
NM_000166.6(GJB1):c.83T>C (p.Ile28Thr) rs768834663
NM_000167.5(GK):c.385del (p.Arg129fs) rs1601910946
NM_000168.6(GLI3):c.2901del (p.Val968fs) rs1064796278
NM_000168.6(GLI3):c.3771del (p.Leu1258fs) rs1554304508
NM_000168.6(GLI3):c.4317C>A (p.Tyr1439Ter) rs1562656975
NM_000169.2(GLA):c.1018T>C (p.Trp340Arg) rs1555984869
NM_000169.2(GLA):c.1019_1020insA (p.Trp340Ter) rs398123197
NM_000169.2(GLA):c.1241T>C (p.Leu414Ser) rs869312246
NM_000169.2(GLA):c.607G>A (p.Glu203Lys) rs869312345
NM_000169.2(GLA):c.619T>C (p.Tyr207His) rs372416832
NM_000170.2(GLDC):c.1166C>T (p.Ala389Val) rs121964979
NM_000170.2(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.2(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.2(GLDC):c.2474G>A (p.Gly825Asp) rs906049409
NM_000170.2(GLDC):c.2919+5G>T rs768091555
NM_000171.4(GLRA1):c.139G>A (p.Gly47Arg) rs759998394
NM_000171.4(GLRA1):c.284A>C (p.Gln95Pro) rs1131691474
NM_000171.4(GLRA1):c.705C>G (p.Phe235Leu) rs1057517994
NM_000171.4(GLRA1):c.869C>T (p.Thr290Ile) rs1064795411
NM_000171.4(GLRA1):c.947C>A (p.Ala316Glu) rs1064795797
NM_000173.7(GP1BA):c.586C>T (p.Gln196Ter) rs371226354
NM_000178.4(GSS):c.3G>A (p.Met1Ile) rs1131691975
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.1296T>G (p.Phe432Leu) rs863224614
NM_000179.2(MSH6):c.1304T>C (p.Leu435Pro) rs63751405
NM_000179.2(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.2(MSH6):c.3134_3140del (p.Lys1045fs) rs1553414544
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.2(MSH6):c.3G>T (p.Met1Ile) rs876660095
NM_000179.2(MSH6):c.457+1del rs876661125
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285
NM_000179.3(MSH6):c.3724_3726del rs63749942
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys) rs370170143
NM_000182.5(HADHA):c.1814_1815del (p.Lys605fs) rs1553312033
NM_000182.5(HADHA):c.1885G>A (p.Gly629Ser) rs1131691348
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg) rs200438844
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp) rs1240187200
NM_000182.5(HADHA):c.407C>G (p.Pro136Arg) rs796051972
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) rs786204607
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr) rs137852774
NM_000183.3(HADHB):c.1258T>G (p.Trp420Gly) rs1131691427
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys) rs780351691
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132
NM_000183.3(HADHB):c.210-1G>T rs200777054
NM_000183.3(HADHB):c.686G>A (p.Arg229Gln) rs375654005
NM_000183.3(HADHB):c.740G>A (p.Arg247His) rs121913133
NM_000184.3(HBG2):c.151TCTGCC[3] (p.51SA[3]) rs1554922455
NM_000188.3(HK1):c.1241G>A (p.Gly414Glu) rs1064795154
NM_000188.3(HK1):c.1252A>G (p.Lys418Glu) rs1564557037
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000190.4(HMBS):c.104C>T (p.Thr35Met) rs974712040
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109
NM_000190.4(HMBS):c.655G>A (p.Ala219Thr) rs767103817
NM_000190.4(HMBS):c.799G>A (p.Val267Met) rs1057521126
NM_000191.3(HMGCL):c.497+4A>G rs568718845
NM_000192.3(TBX5):c.1158del (p.Ser387fs) rs1064795870
NM_000192.3(TBX5):c.188del (p.Leu63fs) rs1555226584
NM_000192.3(TBX5):c.250T>C (p.Phe84Leu) rs1131691460
NM_000192.3(TBX5):c.376_402del (p.Lys126_Arg134del) rs863223782
NM_000192.3(TBX5):c.676A>G (p.Lys226Glu) rs1131691932
NM_000192.3(TBX5):c.755G>C (p.Ser252Thr) rs863223776
NM_000193.4(SHH):c.1028G>A (p.Gly343Asp) rs1057518056
NM_000193.4(SHH):c.1116G>A (p.Trp372Ter) rs1554493722
NM_000193.4(SHH):c.84G>T (p.Arg28Ser) rs1085307689
NM_000193.4(SHH):c.866C>A (p.Ser289Ter) rs1131691966
NM_000194.3(HPRT1):c.566T>C (p.Val189Ala) rs1131691486
NM_000195.5(HPS1):c.1989del (p.Arg663fs) rs1591003183
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.5(SGSH):c.1429G>A (p.Asp477Asn) rs1064795109
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro) rs779703983
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) rs1057521801
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000202.8(IDS):c.1027G>A (p.Gly343Arg) rs1557338153
NM_000202.8(IDS):c.1046G>A (p.Ser349Asn) rs138918423
NM_000202.8(IDS):c.1393C>A (p.Gln465Lys) rs864622772
NM_000202.8(IDS):c.688A>T (p.Ile230Phe) rs1557339507
NM_000202.8(IDS):c.806A>T (p.Asp269Val) rs1085308006
NM_000203.5(IDUA):c.1914C>A (p.Tyr638Ter) rs768467230
NM_000203.5(IDUA):c.554A>C (p.His185Pro) rs1064796754
NM_000204.4(CFI):c.1233C>A (p.Tyr411Ter) rs752671716
NM_000204.4(CFI):c.452A>G (p.Asn151Ser) rs772044176
NM_000206.2(IL2RG):c.460C>T (p.Pro154Ser) rs1064793153
NM_000206.2(IL2RG):c.467C>T (p.Ala156Val) rs1057521062
NM_000206.2(IL2RG):c.718T>C (p.Trp240Arg) rs1057517950
NM_000206.2(IL2RG):c.980A>G (p.Glu327Gly) rs1064794631
NM_000206.2(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
NM_000208.4(INSR):c.1573C>T (p.Arg525Ter) rs1599937180
NM_000208.4(INSR):c.2275C>T (p.Arg759Trp) rs752552480
NM_000208.4(INSR):c.2929_2932del (p.Leu977fs) rs1555736246
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) rs137852785
NM_000211.5(ITGB2):c.1768T>C (p.Cys590Arg) rs1064794298
NM_000211.5(ITGB2):c.2146G>C (p.Gly716Arg) rs1064794297
NM_000213.5(ITGB4):c.3977-30_3977-17del rs1064795468
NM_000213.5(ITGB4):c.599C>A (p.Pro200His) rs148770294
NM_000214.3(JAG1):c.1339T>C (p.Cys447Arg) rs863223651
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265
NM_000214.3(JAG1):c.2045G>A (p.Cys682Tyr) rs876661229
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro) rs876660977
NM_000214.3(JAG1):c.97G>A (p.Gly33Ser) rs876661123
NM_000215.3(JAK3):c.218T>G (p.Leu73Arg) rs1064793156
NM_000215.3(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.3(JAK3):c.307C>T (p.Arg103Cys) rs761583890
NM_000215.3(JAK3):c.349C>T (p.Arg117Cys) rs201233697
NM_000215.3(JAK3):c.424C>T (p.Arg142Cys) rs773590163
NM_000215.3(JAK3):c.431A>T (p.Asp144Val) rs1486760100
NM_000215.3(JAK3):c.862-2A>G rs1057523762
NM_000215.4(JAK3):c.527_528del (p.Glu176fs) rs1064795657
NM_000217.3(KCNA1):c.941T>C (p.Ile314Thr) rs1085308020
NM_000218.2(KCNQ1):c.124G>T (p.Glu42Ter) rs1554958047
NM_000218.2(KCNQ1):c.1686delG rs794728562
NM_000218.2(KCNQ1):c.20del (p.Pro7fs) rs1554958030
NM_000218.2(KCNQ1):c.31G>A (p.Glu11Lys) rs959449103
NM_000218.2(KCNQ1):c.373T>G (p.Tyr125Asp) rs794728578
NM_000218.2(KCNQ1):c.374A>G (p.Tyr125Cys) rs1131691513
NM_000218.2(KCNQ1):c.377A>T (p.His126Leu) rs794728579
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959
NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs) rs1064795333
NM_000218.3(KCNQ1):c.496TTC[1] (p.Phe167del) rs794728555
NM_000218.3(KCNQ1):c.603_604+9del rs794728580
NM_000218.3(KCNQ1):c.692_693dup (p.Phe232fs) rs1589957697
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.200G>T (p.Arg67Leu) rs79654911
NM_000219.6(KCNE1):c.217C>T (p.His73Tyr) rs1064793159
NM_000219.6(KCNE1):c.268A>T (p.Lys90Ter) rs1568835906
NM_000220.5(KCNJ1):c.1012C>T (p.Arg338Ter) rs377205432
NM_000222.2(KIT):c.1279C>T (p.Gln427Ter) rs1306680919
NM_000227.5(LAMA3):c.2632A>T (p.Met878Leu) rs1085308017
NM_000227.5(LAMA3):c.3481G>C (p.Ala1161Pro) rs1131691680
NM_000228.3(LAMB3):c.1127G>C (p.Cys376Ser) rs1085307994
NM_000233.4(LHCGR):c.1471T>C (p.Trp491Arg) rs1064796476
NM_000238.3(KCNH2):c.2415del (p.Phe805fs) rs1064793368
NM_000238.3(KCNH2):c.2468G>A (p.Arg823Gln) rs1064793147
NM_000238.3(KCNH2):c.2536C>T (p.Pro846Ser) rs199473006
NM_000238.3(KCNH2):c.2660G>A (p.Arg887His) rs199473432
NM_000238.3(KCNH2):c.2692+5G>T rs1057522921
NM_000238.3(KCNH2):c.2863C>G (p.Leu955Val) rs199473012
NM_000238.3(KCNH2):c.2887_2888delinsA (p.Pro963fs) rs1064795287
NM_000238.3(KCNH2):c.3060dup (p.Ser1021fs) rs864622174
NM_000238.3(KCNH2):c.3106_3107dup (p.Asp1037fs) rs794728469
NM_000238.3(KCNH2):c.3106_3112dup (p.Val1038fs) rs1554424042
NM_000238.3(KCNH2):c.3255del (p.Pro1086fs) rs1064795855
NM_000238.4(KCNH2):c.1102del (p.His368fs) rs1584863723
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del) rs794728442
NM_000238.4(KCNH2):c.2464G>C (p.Val822Leu) rs121912506
NM_000238.4(KCNH2):c.2504G>A (p.Arg835Gln) rs794728395
NM_000238.4(KCNH2):c.2779_2786dup (p.Glu929fs) rs1584845045
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803
NM_000238.4(KCNH2):c.3007G>T (p.Asp1003Tyr) rs794728402
NM_000243.2(MEFV):c.2040G>T (p.Met680Ile) rs28940580
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000244.3(MEN1):c.1028T>C (p.Leu343Pro) rs1114167480
NM_000244.3(MEN1):c.1132C>G (p.Pro378Ala) rs794728627
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
NM_000244.3(MEN1):c.1617_1633del (p.Ala540fs) rs794728660
NM_000244.3(MEN1):c.168del (p.Asn57fs) rs1060499990
NM_000244.3(MEN1):c.1745T>C (p.Leu582Pro) rs794728634
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.266_286del (p.Leu89_Ala95del) rs1064792906
NM_000244.3(MEN1):c.481G>C (p.Gly161Arg) rs1085307471
NM_000244.3(MEN1):c.482G>A (p.Gly161Asp) rs794728648
NM_000244.3(MEN1):c.530A>T (p.Asp177Val) rs794728618
NM_000244.3(MEN1):c.541G>C (p.Ala181Pro) rs376872829
NM_000244.3(MEN1):c.550G>A (p.Glu184Lys) rs1064793167
NM_000244.3(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_000244.3(MEN1):c.673T>C (p.Trp225Arg) rs1085307971
NM_000244.3(MEN1):c.688G>A (p.Gly230Arg) rs1057521110
NM_000244.3(MEN1):c.699del (p.Met233fs) rs1064795635
NM_000244.3(MEN1):c.703T>C (p.Cys235Arg) rs1555165570
NM_000244.3(MEN1):c.76G>A (p.Glu26Lys) rs28931612
NM_000244.3(MEN1):c.788_790dup (p.Gln263dup) rs1057517760
NM_000244.3(MEN1):c.798+2T>G rs1057524571
NM_000244.3(MEN1):c.839+5G>A rs1064793398
NM_000244.3(MEN1):c.937T>C (p.Ser313Pro) rs1064793169
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1520_1521insTA (p.Leu507fs) rs1553653135
NM_000249.3(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.3(MLH1):c.1676T>C (p.Leu559Pro) rs63750059
NM_000249.3(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.3(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.3(MLH1):c.1896+1G>T rs267607867
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.208-3C>G rs267607720
NM_000249.3(MLH1):c.2103+1G>T rs267607888
NM_000249.3(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.3(MLH1):c.230G>C (p.Cys77Ser) rs63750437
NM_000249.3(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.3(MLH1):c.302G>A (p.Gly101Asp) rs267607727
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.306G>A (p.Glu102=) rs63751665
NM_000249.3(MLH1):c.307-2A>G rs267607732
NM_000249.3(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.3(MLH1):c.380G>T (p.Arg127Ile) rs63751595
NM_000249.3(MLH1):c.453+1G>T rs267607750
NM_000249.3(MLH1):c.454-13A>G rs267607749
NM_000249.3(MLH1):c.554T>G (p.Val185Gly) rs63750515
NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.3(MLH1):c.885-2A>G rs267607805
NM_000250.2(MPO):c.1281del (p.Thr428fs) rs762933005
NM_000250.2(MPO):c.1621+2T>C rs1555607599
NM_000250.2(MPO):c.604G>T (p.Glu202Ter) rs778013714
NM_000251.2(MSH2):c.1045C>A (p.Pro349Thr) rs267607939
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1760-1G>A rs587779110
NM_000251.2(MSH2):c.1760-2_1783del rs1064795329
NM_000251.2(MSH2):c.1864C>A (p.Pro622Thr) rs63750280
NM_000251.2(MSH2):c.1865C>G (p.Pro622Arg) rs28929483
NM_000251.2(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.2(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.2(MSH2):c.2588dup (p.Tyr863Ter) rs1553370435
NM_000251.2(MSH2):c.2634G>A (p.Glu878=) rs63751624
NM_000251.2(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.645+2T>C rs876658996
NM_000252.2(MTM1):c.1291G>A (p.Asp431Asn) rs886044782
NM_000254.2(MTR):c.2003del (p.Asn668fs) rs1064796330
NM_000254.3(MTR):c.3518C>T rs121913578
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro) rs368790885
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) rs143023066
NM_000255.4(MMUT):c.295A>G (p.Met99Val) rs1467385866
NM_000255.4(MMUT):c.372_374dup (p.Asp125_Asn126insGlu) rs796052009
NM_000255.4(MMUT):c.410C>G (p.Ala137Gly) rs941483851
NM_000255.4(MMUT):c.571G>A (p.Ala191Thr) rs1313120333
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.917C>A (p.Ser306Tyr) rs1085307929
NM_000255.4(MMUT):c.976A>G (p.Arg326Gly) rs1085308002
NM_000256.3(MYBPC3):c.1029_1032del (p.Asp344fs) rs1595847753
NM_000256.3(MYBPC3):c.1080G>C (p.Lys360Asn) rs730880632
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly) rs730880633
NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val) rs11570077
NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs) rs730880724
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1238A>G (p.Glu413Gly) rs730880532
NM_000256.3(MYBPC3):c.1256G>A (p.Arg419His) rs770030288
NM_000256.3(MYBPC3):c.1291G>A (p.Asp431Asn) rs753321277
NM_000256.3(MYBPC3):c.1418T>C (p.Phe473Ser) rs397515900
NM_000256.3(MYBPC3):c.1504del (p.Arg502fs) rs1555122188
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1624+3G>C rs730880690
NM_000256.3(MYBPC3):c.1644C>G (p.Tyr548Ter) rs1565627615
NM_000256.3(MYBPC3):c.1654G>T (p.Ala552Ser) rs727504887
NM_000256.3(MYBPC3):c.165C>A (p.Tyr55Ter) rs780012957
NM_000256.3(MYBPC3):c.1669G>A (p.Gly557Ser) rs730880693
NM_000256.3(MYBPC3):c.1685C>A (p.Ala562Glu) rs730880694
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg) rs730880695
NM_000256.3(MYBPC3):c.1720C>T (p.Arg574Trp) rs61897383
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) rs730880551
NM_000256.3(MYBPC3):c.1809del (p.Ile603fs) rs1064794471
NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val) rs730880553
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200
NM_000256.3(MYBPC3):c.1897+4A>C rs730880557
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.1978G>A (p.Val660Met) rs730880560
NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs) rs397515943
NM_000256.3(MYBPC3):c.208G>T (p.Glu70Ter) rs11570045
NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met) rs564378953
NM_000256.3(MYBPC3):c.230G>A (p.Gly77Glu) rs730880580
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302
NM_000256.3(MYBPC3):c.2324C>G (p.Pro775Arg) rs730880564
NM_000256.3(MYBPC3):c.2334del (p.Lys779fs) rs1057518030
NM_000256.3(MYBPC3):c.235T>A (p.Tyr79Asn) rs730880581
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2414-2_2414-1delinsTCCA rs1555121260
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs) rs730880653
NM_000256.3(MYBPC3):c.2532_2538del (p.Met844fs) rs730880654
NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His) rs730880568
NM_000256.3(MYBPC3):c.25G>C (p.Val9Leu) rs1064793201
NM_000256.3(MYBPC3):c.2602+2T>G rs1555121145
NM_000256.3(MYBPC3):c.2610dup (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2739del (p.Ser914fs) rs730880660
NM_000256.3(MYBPC3):c.275_276del (p.Leu92fs) rs1057517766
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.2906-1G>C rs1409755826
NM_000256.3(MYBPC3):c.2942A>C (p.Gln981Pro) rs730880582
NM_000256.3(MYBPC3):c.2965dup (p.Glu989fs) rs1595842017
NM_000256.3(MYBPC3):c.3019T>C (p.Trp1007Arg) rs730880585
NM_000256.3(MYBPC3):c.3217del (p.Arg1073fs) rs730880668
NM_000256.3(MYBPC3):c.3305T>A (p.Val1102Glu) rs730880590
NM_000256.3(MYBPC3):c.3491-3C>A rs730880592
NM_000256.3(MYBPC3):c.3491-3C>G rs730880592
NM_000256.3(MYBPC3):c.3541C>G (p.Pro1181Ala) rs730880593
NM_000256.3(MYBPC3):c.3581C>T (p.Ala1194Val) rs730880594
NM_000256.3(MYBPC3):c.3584G>T (p.Gly1195Val) rs730880595
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro) rs730880702
NM_000256.3(MYBPC3):c.3716A>G (p.Glu1239Gly) rs1085308024
NM_000256.3(MYBPC3):c.3726del (p.Lys1242fs) rs1064796231
NM_000256.3(MYBPC3):c.373_374del (p.Ala124_Ala125insTer) rs1057517767
NM_000256.3(MYBPC3):c.3740A>G (p.Asp1247Gly) rs1085307978
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3781G>T (p.Glu1261Ter) rs730880141
NM_000256.3(MYBPC3):c.3782_3792delinsCCTG (p.Glu1261fs) rs1085307897
NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) rs397514751
NM_000256.3(MYBPC3):c.3814+1G>A rs1057521823
NM_000256.3(MYBPC3):c.3814G>A (p.Val1272Met) rs730880609
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.450del (p.Asp151fs) rs730880677
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser) rs730880573
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp) rs730880619
NM_000256.3(MYBPC3):c.571T>C (p.Trp191Arg) rs730880622
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln) rs730880623
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000256.3(MYBPC3):c.721G>C (p.Val241Leu) rs886039000
NM_000256.3(MYBPC3):c.747C>A (p.Cys249Ter) rs771929829
NM_000256.3(MYBPC3):c.98_99del (p.Thr33fs) rs745811346
NM_000257.4(MYH7):c.1003G>C (p.Ala335Pro) rs727503272
NM_000257.4(MYH7):c.1012G>A (p.Val338Met) rs727503271
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1130G>A (p.Gly377Asp) rs1085307959
NM_000257.4(MYH7):c.1148A>G (p.Lys383Arg) rs397516092
NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) rs727503269
NM_000257.4(MYH7):c.1316T>G (p.Met439Arg) rs730880927
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1396G>C (p.Glu466Gln) rs4981473
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.1479G>A (p.Met493Ile) rs730880876
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911
NM_000257.4(MYH7):c.1571T>C (p.Ile524Thr) rs730880929
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238
NM_000257.4(MYH7):c.1801C>G (p.Leu601Val) rs1131691685
NM_000257.4(MYH7):c.1831A>C (p.Lys611Gln) rs876661200
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2018T>G (p.Ile673Ser) rs730880884
NM_000257.4(MYH7):c.2063T>C (p.Leu688Pro) rs730880731
NM_000257.4(MYH7):c.2081G>A (p.Arg694His) rs886039030
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) rs397516132
NM_000257.4(MYH7):c.2123G>C (p.Gly708Ala) rs397516134
NM_000257.4(MYH7):c.2149G>A (p.Asp717Asn) rs1057524857
NM_000257.4(MYH7):c.2153T>G (p.Phe718Cys) rs1060501432
NM_000257.4(MYH7):c.2160G>C (p.Gln720His) rs730880733
NM_000257.4(MYH7):c.2198G>T (p.Gly733Val) rs727504241
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138
NM_000257.4(MYH7):c.2212A>T (p.Ser738Cys) rs1064796729
NM_000257.4(MYH7):c.2213G>C (p.Ser738Thr) rs730880894
NM_000257.4(MYH7):c.2222G>A (p.Gly741Glu) rs1057520814
NM_000257.4(MYH7):c.2229G>C (p.Glu743Asp) rs397516139
NM_000257.4(MYH7):c.2282C>A (p.Thr761Asn) rs1555337846
NM_000257.4(MYH7):c.2346C>A (p.Ser782Arg) rs730880736
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142
NM_000257.4(MYH7):c.2378G>A (p.Arg793Gln) rs730880896
NM_000257.4(MYH7):c.2455C>T (p.Arg819Trp) rs1064793206
NM_000257.4(MYH7):c.2464A>C (p.Met822Leu) rs730880742
NM_000257.4(MYH7):c.2464A>T (p.Met822Leu) rs730880742
NM_000257.4(MYH7):c.2473A>C (p.Lys825Gln) rs730880743
NM_000257.4(MYH7):c.2478T>A (p.Asn826Lys) rs730880898
NM_000257.4(MYH7):c.2495T>C (p.Leu832Pro) rs730880745
NM_000257.4(MYH7):c.2518C>A (p.Leu840Met) rs730880747
NM_000257.4(MYH7):c.2519T>C (p.Leu840Pro) rs1131691577
NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn) rs397516154
NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly) rs727504311
NM_000257.4(MYH7):c.2555T>A (p.Met852Lys) rs397516157
NM_000257.4(MYH7):c.2560GAG[1] (p.Glu855del) rs730880887
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2666_2667delinsAA (p.Leu889Gln) rs730880888
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) rs727503254
NM_000257.4(MYH7):c.2696C>A (p.Ala899Glu) rs730880753
NM_000257.4(MYH7):c.2698G>A (p.Asp900Asn) rs730880754
NM_000257.4(MYH7):c.2734A>C (p.Lys912Gln) rs730880758
NM_000257.4(MYH7):c.2785G>A (p.Glu929Lys) rs730880161
NM_000257.4(MYH7):c.2791G>A (p.Glu931Lys) rs1131691514
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761
NM_000257.4(MYH7):c.2822G>C (p.Arg941Pro) rs765458590
NM_000257.4(MYH7):c.2893G>A (p.Glu965Lys) rs863225100
NM_000257.4(MYH7):c.2959G>A (p.Glu987Lys) rs730880902
NM_000257.4(MYH7):c.2974C>A (p.Leu992Met) rs149840927
NM_000257.4(MYH7):c.29G>C (p.Gly10Ala) rs730880826
NM_000257.4(MYH7):c.3020T>C (p.Leu1007Pro) rs730880763
NM_000257.4(MYH7):c.3037G>A (p.Glu1013Lys) rs730880764
NM_000257.4(MYH7):c.3094G>A (p.Asp1032Asn) rs730880765
NM_000257.4(MYH7):c.3126G>T (p.Lys1042Asn) rs730880766
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033
NM_000257.4(MYH7):c.3160A>G (p.Lys1054Glu) rs730880768
NM_000257.4(MYH7):c.3163C>A (p.Leu1055Met) rs730880769
NM_000257.4(MYH7):c.3337G>A (p.Ala1113Thr) rs193922388
NM_000257.4(MYH7):c.3341G>A (p.Arg1114His) rs730880773
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr) rs730880833
NM_000257.4(MYH7):c.3597C>G (p.Ser1199Arg) rs730880779
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met) rs529700838
NM_000257.4(MYH7):c.3627C>G (p.Asn1209Lys) rs730880782
NM_000257.4(MYH7):c.3705_3716del (p.Met1235_Ile1238del) rs730880890
NM_000257.4(MYH7):c.3812_3823del (p.Asn1271_Thr1274del) rs1555337023
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn) rs730880906
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys) rs730880785
NM_000257.4(MYH7):c.3901_3903del (p.Leu1301del) rs730880934
NM_000257.4(MYH7):c.3991C>G (p.His1331Asp) rs1057517881
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.4070T>C (p.Leu1357Pro) rs730880788
NM_000257.4(MYH7):c.4093A>G (p.Asn1365Asp) rs730880907
NM_000257.4(MYH7):c.4126G>A (p.Glu1376Lys) rs730880791
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201
NM_000257.4(MYH7):c.4238C>T (p.Ser1413Leu) rs730880796
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.4(MYH7):c.442A>C (p.Ser148Arg) rs730880836
NM_000257.4(MYH7):c.4470G>C (p.Glu1490Asp) rs730880911
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu) rs730880837
NM_000257.4(MYH7):c.4643A>C (p.Glu1548Ala) rs730880804
NM_000257.4(MYH7):c.4772T>C (p.Leu1591Pro) rs730880808
NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln) rs730880810
NM_000257.4(MYH7):c.485A>G (p.Tyr162Cys) rs1057517771
NM_000257.4(MYH7):c.494T>A (p.Met165Lys) rs730880920
NM_000257.4(MYH7):c.511A>C (p.Asn171His) rs730880842
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.5254G>A (p.Glu1752Lys) rs730880916
NM_000257.4(MYH7):c.5359G>C (p.Glu1787Gln) rs1085308025
NM_000257.4(MYH7):c.5364_5366del (p.Gln1788_Thr1789delinsHis) rs876661179
NM_000257.4(MYH7):c.5380C>A (p.Gln1794Lys) rs397516247
NM_000257.4(MYH7):c.5380C>G (p.Gln1794Glu) rs397516247
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000257.4(MYH7):c.5398G>C (p.Ala1800Pro) rs730880917
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.550A>C (p.Lys184Gln) rs730880843
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys) rs730880821
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000257.4(MYH7):c.5659del (p.Glu1887fs) rs730880892
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His) rs727503240
NM_000257.4(MYH7):c.596C>T (p.Ala199Val) rs727504283
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000257.4(MYH7):c.617A>G (p.Lys206Arg) rs730880846
NM_000257.4(MYH7):c.649G>C (p.Glu217Gln) rs730880847
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000257.4(MYH7):c.725C>G (p.Ser242Cys) rs730880921
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000257.4(MYH7):c.748A>T (p.Ile250Phe) rs397516268
NM_000257.4(MYH7):c.758G>T (p.Gly253Val) rs730880853
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr) rs730880856
NM_000257.4(MYH7):c.848A>G (p.Tyr283Cys) rs727503274
NM_000257.4(MYH7):c.871T>C (p.Ser291Pro) rs730880857
NM_000257.4(MYH7):c.964T>A (p.Ser322Thr) rs730880859
NM_000258.2(MYL3):c.193C>T (p.Pro65Ser) rs730880960
NM_000258.2(MYL3):c.194C>G (p.Pro65Arg) rs730880955
NM_000258.2(MYL3):c.447G>T (p.Met149Ile) rs730880162
NM_000258.2(MYL3):c.451G>A (p.Ala151Thr) rs869025486
NM_000258.2(MYL3):c.454G>A (p.Glu152Lys) rs199474705
NM_000258.3(MYL3):c.184G>A (p.Asp62Asn) rs730880954
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000260.4(MYO7A):c.1652T>C (p.Ile551Thr) rs1131691833
NM_000260.4(MYO7A):c.1820C>A (p.Ser607Ter) rs782598897
NM_000260.4(MYO7A):c.2187+1G>A rs111033290
NM_000260.4(MYO7A):c.2219G>C (p.Arg740Pro) rs782276748
NM_000260.4(MYO7A):c.285+2T>C rs782292032
NM_000260.4(MYO7A):c.3064_3067del (p.Leu1022fs) rs1064796130
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu) rs750358148
NM_000260.4(MYO7A):c.4074del (p.Glu1359fs) rs754104546
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter) rs530520654
NM_000260.4(MYO7A):c.5636+2T>A rs1057518040
NM_000263.4(NAGLU):c.928G>A (p.Gly310Arg) rs1480640960
NM_000264.5(PTCH1):c.114dup (p.Leu39fs) rs751977093
NM_000264.5(PTCH1):c.1503G>A (p.Gln501=) rs1085307511
NM_000264.5(PTCH1):c.1504-1G>C rs1057518400
NM_000264.5(PTCH1):c.3169-1G>A rs1060502285
NM_000264.5(PTCH1):c.564_569del (p.His189_Val190del) rs1554702032
NM_000264.5(PTCH1):c.945+3_945+6del rs1064795637
NM_000266.4(NDP):c.125A>G (p.His42Arg) rs104894874
NM_000266.4(NDP):c.155T>A (p.Leu52Ter) rs886043097
NM_000266.4(NDP):c.267C>G (p.Phe89Leu) rs1057520333
NM_000266.4(NDP):c.361C>T (p.Arg121Trp) rs104894878
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000267.3(NF1):c.1063-2A>G rs1060500358
NM_000267.3(NF1):c.1070T>G (p.Leu357Arg) rs137854563
NM_000267.3(NF1):c.1527+1G>A rs1060500331
NM_000267.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_000267.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.1721G>T (p.Ser574Ile) rs1555613206
NM_000267.3(NF1):c.1722-1G>A rs1567845818
NM_000267.3(NF1):c.1801_1803del (p.Arg601del) rs1555613421
NM_000267.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_000267.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_000267.3(NF1):c.277T>C (p.Cys93Arg) rs1555605398
NM_000267.3(NF1):c.2791_2800del (p.Pro931fs) rs1064795730
NM_000267.3(NF1):c.2850+1G>T rs1131691122
NM_000267.3(NF1):c.2975T>A (p.Met992Lys) rs1567849596
NM_000267.3(NF1):c.2991G>T (p.Arg997Ser) rs755501749
NM_000267.3(NF1):c.3002T>A (p.Val1001Glu) rs1131691844
NM_000267.3(NF1):c.3114-2A>G rs1428885377
NM_000267.3(NF1):c.3197+1G>A rs1555614653
NM_000267.3(NF1):c.3197G>A (p.Arg1066Lys) rs1555614652
NM_000267.3(NF1):c.31C>T (p.Gln11Ter) rs876658658
NM_000267.3(NF1):c.3239T>C (p.Leu1080Pro) rs1555614833
NM_000267.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_000267.3(NF1):c.3611G>T (p.Arg1204Leu) rs1057521848
NM_000267.3(NF1):c.3706T>C (p.Trp1236Arg) rs1555615111
NM_000267.3(NF1):c.3728T>C (p.Leu1243Pro) rs137854564
NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe) rs199474789
NM_000267.3(NF1):c.4255A>C (p.Lys1419Gln) rs199474790
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4515-1G>C rs1555618999
NM_000267.3(NF1):c.4772+1G>T rs1085307819
NM_000267.3(NF1):c.5184dup (p.Asp1729fs) rs1555533409
NM_000267.3(NF1):c.5248A>G (p.Lys1750Glu) rs1131691103
NM_000267.3(NF1):c.5547-1G>C rs1567613569
NM_000267.3(NF1):c.5589T>A (p.Phe1863Leu) rs1567613616
NM_000267.3(NF1):c.586delinsTTAA (p.Glu196delinsLeuLys) rs1555607123
NM_000267.3(NF1):c.5944-1G>C rs1555534596
NM_000267.3(NF1):c.6287_6290del (p.Ser2096fs) rs1064795492
NM_000267.3(NF1):c.660_665del (p.Asn222_Trp223del) rs1064796137
NM_000267.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_000267.3(NF1):c.6801A>G (p.Gln2267=) rs1064794756
NM_000267.3(NF1):c.7514dup (p.Met2505fs) rs1555536367
NM_000267.3(NF1):c.7907+5G>T rs1567627286
NM_000268.4(NF2):c.2T>C (p.Met1Thr) rs1555978325
NM_000268.4(NF2):c.655G>A (p.Val219Met) rs1555994816
NM_000270.3(PNP):c.701G>C (p.Arg234Pro) rs104894451
NM_000271.5(NPC1):c.1020_1021del (p.Arg341fs) rs1555637255
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu) rs774333145
NM_000271.5(NPC1):c.1547G>A (p.Cys516Tyr) rs751951695
NM_000271.5(NPC1):c.2103C>G (p.Asn701Lys) rs7227375
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter) rs1064795718
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del) rs1243863645
NM_000273.3(GPR143):c.232G>A (p.Asp78Asn) rs62635024
NM_000273.3(GPR143):c.686G>T (p.Gly229Val) rs62635037
NM_000274.3(OAT):c.1186C>T (p.Arg396Ter) rs121965036
NM_000275.3(OCA2):c.1075G>C (p.Gly359Arg) rs1555368749
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs) rs1595660890
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755
NM_000275.3(OCA2):c.565_566del (p.Leu189fs) rs1312967591
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000276.4(OCRL):c.1040G>A (p.Gly347Glu) rs1057521742
NM_000276.4(OCRL):c.1124A>G (p.His375Arg) rs1057518276
NM_000276.4(OCRL):c.1570C>T (p.His524Tyr) rs1057521952
NM_000276.4(OCRL):c.723-2dup rs1556345557
NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys) rs62507265
NM_000277.3(PAH):c.1162G>C (p.Val388Leu) rs62516101
NM_000277.3(PAH):c.1199+17G>A rs62508613
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.559T>C (p.Trp187Arg) rs62507272
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.757G>A (p.Asp253Asn) rs765533320
NM_000277.3(PAH):c.806T>A (p.Ile269Asn) rs199475644
NM_000280.4(PAX6):c.146C>A (p.Ser49Tyr) rs1554985430
NM_000280.4(PAX6):c.255C>T (p.Ser85=) rs1064793223
NM_000280.4(PAX6):c.365C>A (p.Ser122Ter) rs1554985100
NM_000280.4(PAX6):c.917-9T>A rs1057517784
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro) rs774457925
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys) rs1064793224
NM_000282.4(PCCA):c.806A>G (p.His269Arg) rs886039751
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000283.3(PDE6B):c.1468-2A>G rs763371769
NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981
NM_000283.3(PDE6B):c.1726G>A (p.Gly576Ser) rs753925314
NM_000284.4(PDHA1):c.1025T>G (p.Val342Gly) rs1057523018
NM_000284.4(PDHA1):c.1046C>T (p.Ala349Val) rs1131691952
NM_000284.4(PDHA1):c.1100A>C (p.His367Pro) rs1131691584
NM_000284.4(PDHA1):c.311T>C (p.Leu104Pro) rs794727621
NM_000284.4(PDHA1):c.364G>A (p.Gly122Ser) rs1555933643
NM_000284.4(PDHA1):c.409G>A (p.Glu137Lys) rs1555933663
NM_000284.4(PDHA1):c.642G>A (p.Trp214Ter) rs1569191659
NM_000284.4(PDHA1):c.707C>A (p.Ala236Glu) rs863224145
NM_000284.4(PDHA1):c.738C>T (p.Gly246=) rs1555934379
NM_000284.4(PDHA1):c.746T>G (p.Ile249Ser) rs1064793225
NM_000284.4(PDHA1):c.754C>G (p.Leu252Val) rs1555934383
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg) rs1057521993
NM_000285.4(PEPD):c.977G>A (p.Trp326Ter) rs529315200
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894
NM_000286.3(PEX12):c.744dup (p.Thr249fs) rs61752108
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000288.4(PEX7):c.922G>T (p.Asp308Tyr) rs1131691868
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000290.4(PGAM2):c.20del (p.Val7fs) rs764567774
NM_000291.4(PGK1):c.185G>A (p.Ser62Asn) rs1057524140
NM_000291.4(PGK1):c.639C>T (p.Gly213=) rs797044505
NM_000292.3(PHKA2):c.1144dup (p.Glu382fs) rs1601748177
NM_000292.3(PHKA2):c.3599_3601del (p.Phe1200del) rs1064794657
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter) rs1273669177
NM_000293.3(PHKB):c.2725C>T (p.Gln909Ter) rs748262135
NM_000297.4(PKD2):c.2020-1_2020del rs1553927436
NM_000302.4(PLOD1):c.2114C>T (p.Thr705Met) rs377406897
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105
NM_000303.3(PMM2):c.447+5G>A rs367852554
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.308A>G (p.Gln103Arg) rs786204064
NM_000304.4(PMP22):c.390C>G (p.Tyr130Ter) rs1555564050
NM_000306.4(POU1F1):c.143-64T>G rs1064796954
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln) rs104893765
NM_000307.5(POU3F4):c.385C>T (p.Gln129Ter) rs1569280197
NM_000307.5(POU3F4):c.410del (p.Pro137fs) rs1555984518
NM_000307.5(POU3F4):c.647G>A (p.Gly216Glu) rs866754647
NM_000310.3(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000310.3(PPT1):c.740A>G (p.Tyr247Cys) rs764051026
NM_000312.3(PROC):c.-97_-91delGTTATGG rs1553423061
NM_000312.3(PROC):c.1216A>G (p.Met406Val) rs1553425459
NM_000312.3(PROC):c.169C>T (p.Arg57Trp) rs757583846
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.113C>G (p.Pro38Arg) rs1064796886
NM_000314.7(PTEN):c.1212A>G (p.Ter404Trp) rs876660879
NM_000314.7(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.7(PTEN):c.209+2dup rs1064794925
NM_000314.7(PTEN):c.242T>G (p.Phe81Cys) rs876661177
NM_000314.7(PTEN):c.287C>T (p.Pro96Leu) rs1554898074
NM_000314.7(PTEN):c.379G>A (p.Gly127Arg) rs587781255
NM_000314.7(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.7(PTEN):c.401T>G (p.Met134Arg) rs1085308046
NM_000314.7(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.7(PTEN):c.44G>A (p.Arg15Lys) rs398123324
NM_000314.7(PTEN):c.46T>G (p.Tyr16Asp) rs1064796078
NM_000314.7(PTEN):c.479C>T (p.Thr160Ile) rs1554898225
NM_000314.7(PTEN):c.487A>T (p.Lys163Ter) rs1554898235
NM_000314.7(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.7(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.7(PTEN):c.610C>G (p.Pro204Ala) rs786204868
NM_000314.7(PTEN):c.702_703delinsC (p.Glu235fs) rs1131691831
NM_000314.7(PTEN):c.76A>C (p.Thr26Pro) rs876661010
NM_000314.8(PTEN):c.112C>T (p.Pro38Ser) rs587780004
NM_000314.8(PTEN):c.1133_1136del (p.Arg378fs) rs1064794878
NM_000314.8(PTEN):c.673del (p.Tyr225fs) rs1589663253
NM_000314.8(PTEN):c.944_945del (p.Tyr315fs) rs1064796128
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
NM_000315.4(PTH):c.166C>T (p.Arg56Cys) rs199955107
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000317.3(PTS):c.248C>A (p.Ala83Glu) rs775426269
NM_000317.3(PTS):c.281A>G (p.Asp94Gly) rs1057517811
NM_000317.3(PTS):c.44C>T (p.Ser15Phe) rs1555197885
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000318.3(PEX2):c.624dup (p.Pro209fs) rs1438831421
NM_000320.3(QDPR):c.44T>C (p.Val15Ala) rs750513275
NM_000320.3(QDPR):c.79G>A (p.Val27Met) rs762772317
NM_000321.2(RB1):c.1960+5G>A rs587778871
NM_000321.3(RB1):c.335_339del (p.Glu112fs) rs1064795438
NM_000322.5(PRPH2):c.174_184del (p.His58fs) rs1554270848
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) rs554945964
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys) rs1064793237
NM_000322.5(PRPH2):c.587T>A (p.Ile196Asn) rs1131691378
NM_000326.5(RLBP1):c.141+2T>C rs760650165
NM_000328.3(RPGR):c.1905+165del rs1601924055
NM_000328.3(RPGR):c.1905+736G>T rs1569236609
NM_000329.3(RPE65):c.1244C>T (p.Ala415Val) rs1064795255
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883
NM_000330.3(RS1):c.452A>C (p.Tyr151Ser) rs1131691380
NM_000330.3(RS1):c.625C>T (p.Arg209Cys) rs281865361
NM_000334.4(SCN4A):c.1996_2001dup (p.Ser666_Val667dup) rs1555603364
NM_000334.4(SCN4A):c.2011T>C (p.Phe671Leu) rs1057524290
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) rs121908546
NM_000334.4(SCN4A):c.2874T>A (p.Tyr958Ter) rs1567819954
NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met) rs778820577
NM_000334.4(SCN4A):c.4427T>C (p.Met1476Thr) rs1064795409
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.749T>C (p.Leu250Pro) rs1057521065
NM_000335.4(SCN5A):c.1428_1431del (p.Ser476fs) rs794728906
NM_000335.4(SCN5A):c.2103del (p.Leu702fs) rs794728911
NM_000335.4(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.4(SCN5A):c.3010_3022del (p.Cys1004fs) rs1064792926
NM_000335.4(SCN5A):c.3992_3996del (p.Pro1331fs) rs1553695398
NM_000335.4(SCN5A):c.4191del (p.Val1399fs) rs1064796233
NM_000335.4(SCN5A):c.5187del (p.Thr1730fs) rs1085307527
NM_000335.4(SCN5A):c.5282del (p.Ile1761fs) rs886039455
NM_000335.4(SCN5A):c.5458_5459del (p.Leu1820fs) rs1553692660
NM_000335.4(SCN5A):c.5527_5530dup (p.Gly1844fs) rs1064794424
NM_000335.4(SCN5A):c.5822_5823del (p.Pro1941fs) rs1553692416
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs) rs756159737
NM_000335.5(SCN5A):c.3937_3938del (p.Leu1313fs) rs1575728590
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.5(SCN5A):c.4745G>A (p.Arg1582His) rs199473621
NM_000335.5(SCN5A):c.483-1G>A rs794728846
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000336.3(SCNN1B):c.1738G>T (p.Glu580Ter) rs80311498
NM_000337.5(SGCD):c.192+4A>G rs750150347
NM_000346.4(SOX9):c.1018C>T (p.Gln340Ter) rs1339655148
NM_000346.4(SOX9):c.1100dup (p.Gln368fs) rs1555629370
NM_000346.4(SOX9):c.1418A>G (p.Gln473Arg) rs1064796718
NM_000346.4(SOX9):c.272dup (p.Met91fs) rs1555629028
NM_000346.4(SOX9):c.413C>A (p.Thr138Lys) rs1555629043
NM_000346.4(SOX9):c.479G>C (p.Arg160Pro) rs1057518419
NM_000346.4(SOX9):c.526C>T (p.Pro176Ser) rs1555629169
NM_000346.4(SOX9):c.527C>G (p.Pro176Arg) rs1555629170
NM_000346.4(SOX9):c.723del (p.Thr243fs) rs1598176416
NM_000346.4(SOX9):c.825dup (p.Gly276fs) rs1598176495
NM_000346.4(SOX9):c.888_889dup (p.Tyr297fs) rs1598176531
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979
NM_000350.3(ABCA4):c.1529T>C (p.Leu510Pro) rs886039299
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) rs752786160
NM_000350.3(ABCA4):c.160+5G>C rs1064793004
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His) rs1064793006
NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu) rs61751394
NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu) rs760790294
NM_000350.3(ABCA4):c.1958G>A (p.Arg653His) rs141823837
NM_000350.3(ABCA4):c.2182A>G (p.Ser728Gly) rs1064793007
NM_000350.3(ABCA4):c.2249T>C (p.Leu750Pro) rs1064793008
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp) rs61751395
NM_000350.3(ABCA4):c.2353C>G (p.Arg785Gly) rs781254854
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val) rs779466403
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu) rs746566873
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454
NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg) rs61749456
NM_000350.3(ABCA4):c.3051-16T>A rs1064793009
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) rs61750065
NM_000350.3(ABCA4):c.3268T>C (p.Ser1090Pro) rs1131691351
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) rs756840095
NM_000350.3(ABCA4):c.3389T>C (p.Ile1130Thr) rs1064793010
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg) rs1064793011
NM_000350.3(ABCA4):c.37A>G (p.Lys13Glu) rs1131691262
NM_000350.3(ABCA4):c.4049T>C (p.Leu1350Pro) rs1064793012
NM_000350.3(ABCA4):c.4124C>T (p.Ala1375Val) rs1267585230
NM_000350.3(ABCA4):c.4220C>T (p.Pro1407Leu) rs1064797091
NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys) rs762150575
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368
NM_000350.3(ABCA4):c.4532C>A (p.Pro1511His) rs886046564
NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr) rs1085307968
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563
NM_000350.3(ABCA4):c.5128A>C (p.Lys1710Gln) rs778747291
NM_000350.3(ABCA4):c.5282C>G (p.Pro1761Arg) rs1057520212
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861
NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu) rs1553187939
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn) rs371489809
NM_000350.3(ABCA4):c.5646G>A (p.Met1882Ile) rs752160946
NM_000350.3(ABCA4):c.5714+5G>T rs61751407
NM_000350.3(ABCA4):c.5836-3C>A rs1064793013
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu) rs1064793014
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) rs886044758
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6284A>T (p.Asp2095Val) rs1064793015
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His) rs1057520213
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) rs61748537
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg) rs61748545
NM_000351.6(STS):c.1124G>C (p.Gly375Ala) rs1555967260
NM_000351.6(STS):c.1129C>T (p.Arg377Trp) rs1064795456
NM_000353.3(TAT):c.340G>A (p.Gly114Ser) rs759311161
NM_000353.3(TAT):c.452G>A (p.Cys151Tyr) rs1357257156
NM_000356.4(TCOF1):c.1217_1220del (p.Asp406fs) rs1064794474
NM_000356.4(TCOF1):c.4119dup (p.Asp1374fs) rs1266047546
NM_000356.4(TCOF1):c.4124_4125del (p.Lys1375fs) rs1554081108
NM_000356.4(TCOF1):c.50A>G (p.His17Arg) rs1057521108
NM_000356.4(TCOF1):c.640-1946C>T rs748805008
NM_000356.4(TCOF1):c.640-2006G>T rs377241141
NM_000359.3(TGM1):c.1055C>T (p.Pro352Leu) rs1085308001
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu) rs121918721
NM_000359.3(TGM1):c.1303T>C (p.Phe435Leu) rs754922174
NM_000359.3(TGM1):c.1407_1416delinsGCTCTGT (p.Ile469_Cys471delinsMetLeu) rs1064794422
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806
NM_000359.3(TGM1):c.817G>A (p.Gly273Arg) rs1555306238
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp) rs771820315
NM_000360.4(TH):c.1103C>T (p.Thr368Met) rs1057520384
NM_000360.4(TH):c.656T>C (p.Ile219Thr) rs1064795631
NM_000363.5(TNNI3):c.114A>T (p.Lys38Asn) rs730881066
NM_000363.5(TNNI3):c.131C>G (p.Ser44Trp) rs730881085
NM_000363.5(TNNI3):c.302A>G (p.His101Arg) rs730881087
NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp) rs730881071
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn) rs397516348
NM_000363.5(TNNI3):c.451G>A (p.Ala151Thr) rs730881072
NM_000363.5(TNNI3):c.493G>T (p.Glu165Ter) rs1057521530
NM_000363.5(TNNI3):c.502G>A (p.Asp168Asn) rs1085308019
NM_000363.5(TNNI3):c.514C>G (p.His172Asp) rs730881075
NM_000363.5(TNNI3):c.521A>C (p.Lys174Thr) rs730881076
NM_000363.5(TNNI3):c.554A>G (p.Asn185Ser) rs730881079
NM_000363.5(TNNI3):c.562G>A (p.Val188Met) rs193922409
NM_000363.5(TNNI3):c.579G>T (p.Lys193Asn) rs397516358
NM_000363.5(TNNI3):c.581A>G (p.Asn194Ser) rs730881081
NM_000363.5(TNNI3):c.582C>G (p.Asn194Lys) rs730881090
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285
NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn) rs730881091
NM_000368.4(TSC1):c.2338A>T (p.Arg780Ter) rs1564477162
NM_000368.4(TSC1):c.569G>C (p.Arg190Pro) rs118203402
NM_000368.4(TSC1):c.572T>C (p.Leu191Pro) rs118203403
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.5(TSC1):c.1326_1327del (p.Gly443fs) rs1064795285
NM_000369.5(TSHR):c.1523C>T (p.Ser508Leu) rs772490052
NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro) rs1064794318
NM_000369.5(TSHR):c.394G>C (p.Gly132Arg) rs760874290
NM_000369.5(TSHR):c.418del (p.Met140fs) rs1085307573
NM_000371.3(TTR):c.220_221inv (p.Glu74Ser)
NM_000371.3(TTR):c.236C>A (p.Thr79Lys) rs730881163
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317
NM_000372.5(TYR):c.138T>A (p.Cys46Ter) rs1565386338
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185
NM_000372.5(TYR):c.239G>A (p.Trp80Ter) rs1183890194
NM_000372.5(TYR):c.524T>C (p.Leu175Pro) rs1064795343
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.5(TYR):c.803TCT[1] (p.Phe269del) rs1064796028
NM_000372.5(TYR):c.938_939dup (p.Ser314fs) rs867751958
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) rs200305064
NM_000376.3(VDR):c.1027C>T (p.Arg343Cys) rs1057521095
NM_000377.2(WAS):c.160_164delinsAACCTGGCGCTGCCCCC (p.Tyr54_Leu55delinsAsnLeuAlaLeuProPro) rs1557006316
NM_000377.2(WAS):c.173C>A (p.Pro58His) rs132630275
NM_000377.2(WAS):c.559+5G>C rs886039451
NM_000377.2(WAS):c.91G>A (p.Glu31Lys) rs1557006239
NM_000380.3(XPA):c.284-31_284-8delinsGTC rs1554701985
NM_000380.3(XPA):c.323G>A (p.Cys108Tyr) rs104894131
NM_000382.3(ALDH3A2):c.1069A>T (p.Lys357Ter) rs1555534472
NM_000382.3(ALDH3A2):c.681-14T>G rs1400349287
NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn) rs72547569
NM_000382.3(ALDH3A2):c.835T>A (p.Tyr279Asn) rs72547570
NM_000383.4(AIRE):c.1214_1215delinsT (p.Pro405fs) rs1601969230
NM_000383.4(AIRE):c.26G>C (p.Arg9Pro) rs1057517878
NM_000383.4(AIRE):c.34A>G (p.Arg12Gly) rs1131691636
NM_000384.3(APOB):c.4471A>T (p.Arg1491Ter) rs1558565733
NM_000384.3(APOB):c.7851del (p.Phe2617fs) rs1220363895
NM_000388.4(CASR):c.1183T>C (p.Cys395Arg) rs1057517712
NM_000388.4(CASR):c.1673A>G (p.Glu558Gly) rs1553768726
NM_000388.4(CASR):c.1750A>T (p.Lys584Ter) rs1057523748
NM_000388.4(CASR):c.1837G>A (p.Gly613Arg) rs1060502842
NM_000388.4(CASR):c.196C>T (p.Arg66Cys) rs121909266
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432
NM_000388.4(CASR):c.2243C>A (p.Pro748Gln) rs193922433
NM_000388.4(CASR):c.2431A>G (p.Met811Val) rs1057521129
NM_000388.4(CASR):c.380A>G (p.Glu127Gly) rs121909260
NM_000388.4(CASR):c.649G>T (p.Asp217Tyr) rs201091657
NM_000388.4(CASR):c.659G>A (p.Arg220Gln) rs1202110240
NM_000388.4(CASR):c.679C>G (p.Arg227Gly) rs1085307984
NM_000390.4(CHM):c.1680del (p.Ser561fs) rs1556207100
NM_000390.4(CHM):c.49+5G>A rs1057521475
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn) rs145966505
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.1146-1G>A rs1131691676
NM_000391.4(TPP1):c.845G>A (p.Ser282Asn) rs796053440
NM_000391.4(TPP1):c.887-18A>G rs935526225
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=) rs1553515794
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg) rs1040238147
NM_000393.5(COL5A2):c.322+1G>C rs770598613
NM_000393.5(COL5A2):c.329G>A (p.Gly110Glu) rs863223501
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.5(COL5A2):c.3544G>T (p.Gly1182Cys) rs1057524163
NM_000396.4(CTSK):c.541T>C (p.Tyr181His) rs868112062
NM_000397.3(CYBB):c.1169C>T (p.Pro390Leu) rs1131691836
NM_000397.3(CYBB):c.1231A>T (p.Ile411Phe) rs1057521937
NM_000397.3(CYBB):c.141+1G>T rs1556464581
NM_000397.3(CYBB):c.1618del (p.Glu540fs) rs1556473078
NM_000397.3(CYBB):c.343C>T (p.His115Tyr) rs1131691401
NM_000397.3(CYBB):c.599C>T (p.Ser200Phe) rs1556468360
NM_000397.3(CYBB):c.626A>G (p.His209Arg) rs151344482
NM_000397.4(CYBB):c.988_989del (p.Pro330fs) rs1602183161
NM_000398.7(CYB5R3):c.535G>C (p.Ala179Pro) rs530251354
NM_000399.5(EGR2):c.1066G>C (p.Glu356Gln) rs751448371
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln) rs864622273
NM_000400.3(ERCC2):c.1339_1341delinsTT (p.Val447fs) rs1555776677
NM_000400.3(ERCC2):c.1666-2A>T rs199658345
NM_000400.3(ERCC2):c.1906C>T (p.Arg636Trp) rs773359656
NM_000400.3(ERCC2):c.594+2_594+5del rs762309206
NM_000401.3(EXT2):c.725+1G>T rs1057521132
NM_000404.2(GLB1):c.367G>A rs28934274
NM_000404.4(GLB1):c.1696C>T (p.Pro566Ser) rs1057524868
NM_000404.4(GLB1):c.902_914+17delinsAGGCAAGTATATACTTGCC rs1064794737
NM_000406.3(GNRHR):c.413A>G (p.Asp138Gly) rs1064793140
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000419.5(ITGA2B):c.2944G>A (p.Val982Met) rs78657866
NM_000419.5(ITGA2B):c.89G>A (p.Trp30Ter) rs1131692013
NM_000421.4(KRT10):c.494G>C (p.Arg165Pro) rs755924637
NM_000423.3(KRT2):c.566T>C (p.Phe189Ser) rs1064795317
NM_000424.4(KRT5):c.1273_1299del (p.Leu425_Ala433del) rs1555156100
NM_000424.4(KRT5):c.1402G>T (p.Ala468Ser) rs1131691471
NM_000424.4(KRT5):c.1474+3A>C rs111448623
NM_000424.4(KRT5):c.434T>A (p.Val145Asp) rs1555156480
NM_000424.4(KRT5):c.482T>A (p.Ile161Asn) rs58058996
NM_000426.3(LAMA2):c.12del (p.Ala5fs) rs1554312639
NM_000426.3(LAMA2):c.1499G>A (p.Cys500Tyr) rs1064794941
NM_000426.3(LAMA2):c.1657C>T (p.Arg553Ter) rs1303773212
NM_000426.3(LAMA2):c.3555+1G>A rs1057518119
NM_000426.3(LAMA2):c.3636del (p.Gln1213fs) rs1064795451
NM_000426.3(LAMA2):c.397-35_397del rs1554217476
NM_000426.3(LAMA2):c.4002T>G (p.Tyr1334Ter) rs1562451730
NM_000426.3(LAMA2):c.4436+5G>T rs1057524616
NM_000426.3(LAMA2):c.4523G>A (p.Arg1508Lys) rs770084568
NM_000426.3(LAMA2):c.4682del (p.Lys1561fs) rs1246940477
NM_000426.3(LAMA2):c.6062dup (p.Leu2023fs) rs1554297242
NM_000426.3(LAMA2):c.61_62del (p.Gln21fs) rs1554312687
NM_000426.3(LAMA2):c.6605G>T (p.Gly2202Val) rs1554299897
NM_000426.3(LAMA2):c.6992+5G>A rs1221715098
NM_000426.3(LAMA2):c.8452C>G (p.Leu2818Val) rs1064795750
NM_000427.3(LORICRIN):c.673dup (p.Tyr225fs) rs1571081028
NM_000428.3(LTBP2):c.2628C>G (p.Tyr876Ter) rs1566622093
NM_000429.3(MAT1A):c.292G>A (p.Gly98Ser) rs1554841212
NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp) rs376757912
NM_000429.3(MAT1A):c.740G>A (p.Ser247Asn) rs1131691739
NM_000429.3(MAT1A):c.763C>T (p.Pro255Ser) rs913435613
NM_000430.4(PAFAH1B1):c.117+5G>C rs1555526248
NM_000430.4(PAFAH1B1):c.117_117+2del rs1064796229
NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys) rs587784250
NM_000430.4(PAFAH1B1):c.33-1G>C rs1057521243
NM_000431.4(MVK):c.1189T>C (p.Ter397Arg) rs1555279757
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300
NM_000431.4(MVK):c.802A>G (p.Ile268Val) rs759997079
NM_000431.4(MVK):c.904C>T (p.Gln302Ter) rs886048933
NM_000432.3(MYL2):c.113A>G (p.Gln38Arg) rs730880947
NM_000432.3(MYL2):c.257T>C (p.Phe86Ser) rs730880950
NM_000432.3(MYL2):c.308T>G (p.Phe103Cys) rs547860537
NM_000432.3(MYL2):c.403-1G>C rs199474813
NM_000432.3(MYL2):c.488A>G (p.Glu163Gly) rs397516407
NM_000432.3(MYL2):c.496G>T (p.Asp166Tyr) rs730880952
NM_000432.3(MYL2):c.53T>C (p.Phe18Ser) rs730880944
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser) rs727504425
NM_000434.4(NEU1):c.544A>G (p.Ser182Gly) rs398123392
NM_000435.3(NOTCH3):c.1235A>G (p.Gln412Arg) rs1131691934
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr) rs1064794216
NM_000435.3(NOTCH3):c.5926dup (p.Leu1976fs) rs1555725170
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.3(NOTCH3):c.6692del (p.Pro2231fs) rs773656789
NM_000440.3(PDE6A):c.1097del (p.Asp366fs) rs1581186849
NM_000441.2(SLC26A4):c.-103T>C rs60284988
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000441.2(SLC26A4):c.1085C>A (p.Ala362Asp) rs1057518006
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) rs1057520369
NM_000441.2(SLC26A4):c.1544+5G>A rs1057521147
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421
NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser) rs750834241
NM_000441.2(SLC26A4):c.537_538delinsC (p.Ala180fs) rs1584306754
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp) rs754287486
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys) rs1556026033
NM_000444.6(PHEX):c.1302+1G>T rs1131691841
NM_000444.6(PHEX):c.1313T>C (p.Leu438Ser) rs1057517904
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg) rs1085308012
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000444.6(PHEX):c.1482+1G>A rs1064793228
NM_000444.6(PHEX):c.1586+6T>G rs1057518214
NM_000444.6(PHEX):c.1645+5G>C rs1085307522
NM_000444.6(PHEX):c.1658G>A (p.Gly553Glu) rs1064794306
NM_000444.6(PHEX):c.1700G>C (p.Arg567Pro) rs760870713
NM_000444.6(PHEX):c.1714G>A (p.Gly572Ser) rs1064795106
NM_000444.6(PHEX):c.1715G>A (p.Gly572Asp) rs1057517795
NM_000444.6(PHEX):c.1715G>T (p.Gly572Val) rs1057517795
NM_000444.6(PHEX):c.1723G>A (p.Gly575Arg) rs1131692029
NM_000444.6(PHEX):c.1736G>A (p.Gly579Glu) rs1057517980
NM_000444.6(PHEX):c.1736G>T (p.Gly579Val) rs1057517980
NM_000444.6(PHEX):c.1739A>G (p.His580Arg) rs1057521800
NM_000444.6(PHEX):c.1768+2dup rs1057517796
NM_000444.6(PHEX):c.1768+5G>T rs1057524608
NM_000444.6(PHEX):c.1900-1G>A rs755406730
NM_000444.6(PHEX):c.1966-1G>C rs1064795147
NM_000444.6(PHEX):c.2061T>G (p.Ser687Arg) rs1064794849
NM_000444.6(PHEX):c.2070+1G>A rs1057518596
NM_000444.6(PHEX):c.2070+5G>C rs1057517797
NM_000444.6(PHEX):c.2077T>C (p.Cys693Arg) rs1064794999
NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp) rs1064796845
NM_000444.6(PHEX):c.2118_2119del (p.Gln706fs) rs1064796540
NM_000444.6(PHEX):c.2138del (p.Pro713fs) rs886041375
NM_000444.6(PHEX):c.2138dup (p.Gln714fs) rs886041375
NM_000444.6(PHEX):c.2159C>A (p.Ala720Glu) rs1057517798
NM_000444.6(PHEX):c.2171_2172del (p.Asn723_Phe724insTer) rs1556205980
NM_000444.6(PHEX):c.2198G>A (p.Cys733Tyr) rs1057517981
NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe) rs1057517799
NM_000444.6(PHEX):c.2244_2245del (p.Trp749fs) rs1057517800
NM_000444.6(PHEX):c.332_334del (p.Val111del) rs1064795949
NM_000444.6(PHEX):c.349+1G>C rs193922459
NM_000444.6(PHEX):c.436+1G>C rs1057517788
NM_000444.6(PHEX):c.611T>A (p.Ile204Asn) rs1085307950
NM_000444.6(PHEX):c.664-2A>C rs1131692026
NM_000444.6(PHEX):c.758TGG[1] (p.Val254del) rs1064796391
NM_000448.2(RAG1):c.1178G>T (p.Gly393Val) rs1554944856
NM_000448.2(RAG1):c.2147G>A (p.Arg716Gln) rs1064793248
NM_000448.2(RAG1):c.2442G>T (p.Glu814Asp) rs768860215
NM_000448.2(RAG1):c.2564A>G (p.Asn855Ser) rs199474690
NM_000448.2(RAG1):c.2690G>A (p.Arg897Gln) rs1064793249
NM_000448.2(RAG1):c.2981A>G (p.His994Arg) rs775412266
NM_000448.2(RAG1):c.335G>A (p.Arg112His) rs749223640
NM_000448.2(RAG1):c.527G>T (p.Cys176Phe) rs149229197
NM_000455.4(STK11):c.407T>C (p.Met136Thr) rs1060499958
NM_000455.4(STK11):c.481A>T (p.Ile161Phe) rs1131690938
NM_000455.4(STK11):c.527A>G (p.Asp176Gly) rs1064794805
NM_000455.4(STK11):c.630C>A (p.Cys210Ter) rs786201213
NM_000455.4(STK11):c.711C>G (p.Asp237Glu) rs1057520379
NM_000455.4(STK11):c.869T>C (p.Leu290Pro) rs1057524439
NM_000458.4(HNF1B):c.1006del (p.His336fs)
NM_000458.4(HNF1B):c.1561C>T (p.Gln521Ter)
NM_000458.4(HNF1B):c.755G>C (p.Arg252Pro)
NM_000460.4(THPO):c.247G>A (p.Asp83Asn) rs1005731602
NM_000465.4(BARD1):c.102G>A (p.Trp34Ter) rs879254280
NM_000465.4(BARD1):c.1224_1227del (p.Met408fs) rs1553622164
NM_000465.4(BARD1):c.1284del (p.Glu429fs) rs879253879
NM_000465.4(BARD1):c.1325del (p.Pro442fs) rs1060501287
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1811-10_1811-2del rs879254264
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) rs587782504
NM_000465.4(BARD1):c.1935_1954del (p.Cys645_Glu652delinsTer) rs587780024
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter) rs730881422
NM_000465.4(BARD1):c.2002-1G>A rs762601855
NM_000465.4(BARD1):c.2002-2A>C rs876658260
NM_000465.4(BARD1):c.2063dup (p.Asp689fs) rs1064796026
NM_000465.4(BARD1):c.2113A>T (p.Arg705Ter) rs1064795005
NM_000465.4(BARD1):c.627_628del (p.Lys209fs) rs864622223
NM_000465.4(BARD1):c.632T>A (p.Leu211Ter) rs762171436
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418
NM_000466.3(PEX1):c.2926+1G>A rs267608179
NM_000466.3(PEX1):c.3208-1G>A rs1057517518
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer) rs1585214453
NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter) rs1563160116
NM_000474.4(TWIST1):c.96del (p.Lys33fs) rs1585617794
NM_000478.6(ALPL):c.1171dup (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1343C>T (p.Pro448Leu) rs1131691372
NM_000478.6(ALPL):c.205_212del (p.Ala69fs) rs1553411896
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) rs199665722
NM_000481.4(AMT):c.1034-1dup rs1238918084
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer) rs755635209
NM_000487.6(ARSA):c.495_501del (p.Pro166fs) rs1057517429
NM_000487.6(ARSA):c.926A>T (p.Glu309Val) rs1085308016
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382
NM_000488.3(SERPINC1):c.166C>T (p.Arg56Cys) rs28929469
NM_000488.3(SERPINC1):c.572A>G (p.Gln191Arg) rs1131691435
NM_000489.5(ATRX):c.371-2A>G rs1557148369
NM_000489.5(ATRX):c.4509A>T (p.Arg1503Ser) rs1057517997
NM_000489.5(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000489.5(ATRX):c.6532C>T (p.Arg2178Trp) rs1057517707
NM_000489.5(ATRX):c.668G>A (p.Cys223Tyr) rs1557142844
NM_000489.5(ATRX):c.7147G>C (p.Asp2383His) rs1057518225
NM_000489.5(ATRX):c.7219C>T (p.Arg2407Ter) rs1557034957
NM_000489.5(ATRX):c.729C>G (p.Cys243Trp) rs1057524153
NM_000492.3(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000493.4(COL10A1):c.1766_1767insAA (p.Phe589fs) rs1582812173
NM_000493.4(COL10A1):c.1796T>C (p.Phe599Ser) rs1554192923
NM_000494.4(COL17A1):c.1141+5G>A rs201940939
NM_000494.4(COL17A1):c.1650del (p.Met550fs) rs1589567772
NM_000494.4(COL17A1):c.2578G>A (p.Gly860Ser) rs1554847822
NM_000497.3(CYP11B1):c.52del (p.Leu18fs) rs1131691992
NM_000501.4(ELN):c.164-2A>C rs782096458
NM_000501.4(ELN):c.1859-1G>A rs863223516
NM_000501.4(ELN):c.2031C>G (p.Tyr677Ter) rs1554688700
NM_000501.4(ELN):c.295_296del (p.Ala99fs) rs1554669297
NM_000501.4(ELN):c.618T>A (p.Tyr206Ter) rs863223513
NM_000501.4(ELN):c.643+1G>A rs1131691482
NM_000501.4(ELN):c.659C>T (p.Pro220Leu) rs201012726
NM_000501.4(ELN):c.728_729del (p.Gly243fs) rs863223527
NM_000501.4(ELN):c.889+1G>A rs782238674
NM_000503.6(EYA1):c.1714dup (p.Trp572fs) rs1064795739
NM_000503.6(EYA1):c.202+1G>A rs753245290
NM_000504.4(F10):c.1105G>A (p.Glu369Lys) rs1085307979
NM_000507.4(FBP1):c.355G>A (p.Asp119Asn) rs758609113
NM_000507.4(FBP1):c.495C>A (p.Tyr165Ter) rs139264724
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp) rs200679026
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000507.4(FBP1):c.880G>A (p.Gly294Arg) rs1064795826
NM_000507.4(FBP1):c.970G>A (p.Asp324Asn) rs201508880
NM_000510.3(FSHB):c.236_237del (p.Val79fs) rs5030646
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311
NM_000512.5(GALNS):c.539T>C (p.Val180Ala) rs886039376
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) rs569725936
NM_000516.6(GNAS):c.1136G>A (p.Cys379Tyr) rs1064795798
NM_000516.6(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.6(GNAS):c.257+1G>T rs111541229
NM_000516.6(GNAS):c.305C>T (p.Ala102Val) rs1131691999
NM_000516.6(GNAS):c.773G>A (p.Arg258Gln) rs1555891584
NM_000520.6(HEXA):c.1142_1146del (p.Val381fs) rs1595798033
NM_000520.6(HEXA):c.21G>A (p.Trp7Ter) rs1407480461
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys) rs1064794856
NM_000520.6(HEXA):c.536A>G (p.His179Arg) rs747372270
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564
NM_000523.4(HOXD13):c.894_896del (p.Asn298del) rs749985629
NM_000526.5(KRT14):c.1109T>C (p.Leu370Pro) rs1555571799
NM_000526.5(KRT14):c.1161_1165del (p.Cys389fs) rs1597798429
NM_000526.5(KRT14):c.353C>T (p.Thr118Ile) rs1064794983
NM_000527.4(LDLR):c.1186+5G>C rs879254821
NM_000527.4(LDLR):c.1222G>C (p.Glu408Gln) rs137943601
NM_000527.4(LDLR):c.1659C>G (p.Tyr553Ter) rs564258872
NM_000527.4(LDLR):c.1808dup (p.Arg604fs) rs1555806526
NM_000527.4(LDLR):c.2233_2291del (p.Pro745fs) rs1555808094
NM_000527.4(LDLR):c.865T>G (p.Cys289Gly) rs879254697
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323
NM_000527.5(LDLR):c.1330T>C (p.Ser444Pro) rs875989919
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663
NM_000527.5(LDLR):c.190+4A>T rs769446356
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) rs879254451
NM_000527.5(LDLR):c.779_782del (p.Asp260fs) rs1600713742
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro) rs1555706137
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) rs864622732
NM_000530.8(MPZ):c.149_151dup (p.Cys50dup) rs1553259792
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu) rs879254297
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) rs786204119
NM_000530.8(MPZ):c.26del (p.Ser9fs) rs1064795521
NM_000530.8(MPZ):c.309G>T (p.Gly103=) rs1131691852
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr) rs121913609
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys) rs1553259663
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) rs1553259656
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.424G>T (p.Val142Phe) rs876661257
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.615_617delinsC (p.Gly206fs) rs1571817544
NM_000530.8(MPZ):c.699_702del (p.Ser233fs) rs1571817103
NM_000531.6(OTC):c.365A>G (p.Glu122Gly) rs1131691517
NM_000531.6(OTC):c.494A>G (p.Asp165Gly) rs1555975685
NM_000531.6(OTC):c.596A>G (p.Asn199Ser) rs72558406
NM_000531.6(OTC):c.673C>T (p.Pro225Ser) rs72558428
NM_000531.6(OTC):c.709_712delinsCCT (p.Ala237fs) rs1602033095
NM_000531.6(OTC):c.868-2A>T rs1064796335
NM_000531.6(OTC):c.988A>G (p.Arg330Gly) rs72558478
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367
NM_000532.5(PCCB):c.972TGA[1] (p.Asp325del) rs796052023
NM_000533.5(PLP1):c.453+3G>C rs112667596
NM_000533.5(PLP1):c.531C>A (p.Tyr177Ter) rs1064796350
NM_000533.5(PLP1):c.739del (p.Ala247fs) rs1602385699
NM_000533.5(PLP1):c.789C>A (p.Tyr263Ter) rs1556273075
NM_000533.5(PLP1):c.98G>A (p.Cys33Tyr) rs1064794255
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.139_146del (p.Leu47fs) rs886039615
NM_000535.7(PMS2):c.163+1G>A rs1064795705
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.2446-2A>G rs886039709
NM_000535.7(PMS2):c.2500_2501del (p.Met834fs) rs876661042
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter) rs786201039
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter) rs876661203
NM_000535.7(PMS2):c.2533del (p.His845fs) rs1064796500
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000535.7(PMS2):c.537+1G>C rs863224450
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) rs193922573
NM_000536.4(RAG2):c.464T>C (p.Leu155Pro) rs1064793250
NM_000536.4(RAG2):c.479C>T (p.Ser160Leu) rs756694972
NM_000536.4(RAG2):c.518A>G (p.Asn173Ser) rs766735610
NM_000536.4(RAG2):c.539C>A (p.Pro180His) rs1064793251
NM_000539.3(RHO):c.263T>C (p.Leu88Pro) rs1057521112
NM_000539.3(RHO):c.745G>T (p.Glu249Ter) rs104893783
NM_000540.2(RYR1):c.10749_10753del (p.Glu3584fs) rs1412691915
NM_000540.2(RYR1):c.11908-2A>T rs763146574
NM_000540.2(RYR1):c.12110del (p.Gly4037fs) rs1555795308
NM_000540.2(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953
NM_000540.2(RYR1):c.13654T>A (p.Phe4552Ile) rs1085307909
NM_000540.2(RYR1):c.13764del (p.Glu4590fs) rs1555801843
NM_000540.2(RYR1):c.13909A>G (p.Thr4637Ala) rs118192166
NM_000540.2(RYR1):c.14573A>G (p.Asn4858Ser) rs1555803933
NM_000540.2(RYR1):c.14672G>A (p.Gly4891Asp) rs398123470
NM_000540.2(RYR1):c.14815G>A (p.Asp4939Asn) rs760010175
NM_000540.2(RYR1):c.14929G>C (p.Glu4977Gln) rs200777598
NM_000540.2(RYR1):c.2361-1G>C rs113379223
NM_000540.2(RYR1):c.2682G>A (p.Pro894=) rs919322708
NM_000540.2(RYR1):c.2706del (p.His903fs) rs747409654
NM_000540.2(RYR1):c.328C>T (p.His110Tyr) rs767777113
NM_000540.2(RYR1):c.3362A>G (p.Tyr1121Cys) rs756138074
NM_000540.2(RYR1):c.3964_3982dup (p.Asp1328fs) rs1281542312
NM_000540.2(RYR1):c.4094del (p.Gly1365fs) rs587784375
NM_000540.2(RYR1):c.4590del (p.Asn1531fs) rs1064793254
NM_000540.2(RYR1):c.5309C>A (p.Ser1770Ter) rs398123472
NM_000540.2(RYR1):c.5509_5510del (p.Gln1837fs) rs1555779450
NM_000540.2(RYR1):c.6566_6567del (p.Lys2189fs) rs1064794845
NM_000540.2(RYR1):c.6631A>C (p.Met2211Leu) rs1131691876
NM_000540.2(RYR1):c.7835+1G>A rs1057524858
NM_000540.2(RYR1):c.8400+2T>A rs1057517909
NM_000540.2(RYR1):c.8692+1G>T rs1057523844
NM_000540.2(RYR1):c.9472+1G>A rs776697656
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.3(RYR1):c.12495_12496insT (p.Ala4166fs) rs1599625856
NM_000540.3(RYR1):c.14385G>A (p.Trp4795Ter) rs565173276
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser) rs1554935136
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874
NM_000543.5(SMPD1):c.1562T>G (p.Leu521Arg) rs1057517826
NM_000543.5(SMPD1):c.649G>T (p.Glu217Ter) rs1064795484
NM_000545.6(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.6(HNF1A):c.55T>G (p.Ser19Ala) rs1064793150
NM_000545.6(HNF1A):c.599G>A (p.Arg200Gln) rs893256143
NM_000545.6(HNF1A):c.608G>A (p.Arg203His) rs587780357
NM_000545.6(HNF1A):c.827C>A (p.Ala276Asp) rs137853245
NM_000545.6(HNF1A):c.827C>G (p.Ala276Gly) rs137853245
NM_000545.8(HNF1A):c.1193_1195delinsGGT (p.Gln398_Gln399delinsArgTer) rs1593060966
NM_000546.5(TP53):c.1101-2A>G rs587781664
NM_000546.5(TP53):c.128T>A (p.Leu43Ter) rs1555526777
NM_000546.5(TP53):c.247_256del (p.Ala83fs) rs1555526635
NM_000546.5(TP53):c.273_279del (p.Trp91fs) rs1064796124
NM_000546.5(TP53):c.314G>A (p.Gly105Asp) rs587781504
NM_000546.5(TP53):c.322_339del (p.Gly108_Phe113del) rs886039495
NM_000546.5(TP53):c.325T>G (p.Phe109Val) rs1057523496
NM_000546.5(TP53):c.327_328del (p.Phe109fs) rs1064795434
NM_000546.5(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.5(TP53):c.376-2A>G rs786202799
NM_000546.5(TP53):c.376T>G (p.Tyr126Asp) rs886039483
NM_000546.5(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.5(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_000546.5(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.5(TP53):c.482C>A (p.Ala161Asp) rs1064795691
NM_000546.5(TP53):c.514_517dup (p.Val173fs) rs1555526064
NM_000546.5(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.5(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.5(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.5(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.5(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.5(TP53):c.596G>T (p.Gly199Val) rs1555525857
NM_000546.5(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_000546.5(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.5(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_000546.5(TP53):c.749C>T (p.Pro250Leu) rs1064794311
NM_000546.5(TP53):c.752T>G (p.Ile251Ser) rs730882027
NM_000546.5(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.5(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_000546.5(TP53):c.827C>A (p.Ala276Asp) rs786202082
NM_000546.5(TP53):c.829T>C (p.Cys277Arg) rs1064795369
NM_000546.5(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.5(TP53):c.853G>A (p.Glu285Lys) rs112431538
NM_000546.5(TP53):c.981T>G (p.Tyr327Ter) rs879254077
NM_000546.5(TP53):c.993G>A (p.Gln331=) rs11575996
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.761TCA[1] (p.Ile255del) rs1064794309
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.949C>T (p.Gln317Ter) rs764735889
NM_000548.5(TSC2):c.-30+1G>C rs587778004
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro) rs137854345
NM_000548.5(TSC2):c.1096_1116del (p.Glu366_Leu372del) rs1085307591
NM_000548.5(TSC2):c.1119G>C (p.Gln373His) rs1057523727
NM_000548.5(TSC2):c.11dup (p.Thr5fs) rs1596233685
NM_000548.5(TSC2):c.1240T>G (p.Cys414Gly) rs1057523509
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg) rs45481199
NM_000548.5(TSC2):c.1443+5G>C rs1057521562
NM_000548.5(TSC2):c.2386_2457del (p.Leu796_Ile819del) rs1555507504
NM_000548.5(TSC2):c.2528T>C (p.Leu843Pro) rs1057522911
NM_000548.5(TSC2):c.2545+5G>C rs1131691965
NM_000548.5(TSC2):c.2742G>A (p.Lys914=) rs137854877
NM_000548.5(TSC2):c.2743-9C>G rs397515319
NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro) rs397515207
NM_000548.5(TSC2):c.3599G>A (p.Arg1200Gln) rs397515225
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys) rs45517355
NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys) rs886039446
NM_000548.5(TSC2):c.4859A>T (p.His1620Leu) rs397515177
NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile) rs397515220
NM_000548.5(TSC2):c.5122del (p.Leu1708fs) rs137854336
NM_000548.5(TSC2):c.5138_5149del (p.Arg1713_Ala1716del) rs1064795156
NM_000548.5(TSC2):c.5259+2T>G rs1555440894
NM_000548.5(TSC2):c.5260-1G>C rs1057518103
NM_000548.5(TSC2):c.791T>C (p.Leu264Pro) rs45517131
NM_000548.5(TSC2):c.976-10C>A rs765990217
NM_000549.5(TSHB):c.373del (p.Cys125fs) rs755485552
NM_000551.3(VHL):c.179_192del (p.Arg60fs) rs1064796408
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.356_357insGG (p.Phe119fs) rs1131691526
NM_000551.3(VHL):c.393C>A (p.Asn131Lys) rs1064794272
NM_000551.3(VHL):c.556G>T (p.Glu186Ter) rs367545984
NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.4(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.4(VWF):c.5191T>A (p.Ser1731Thr) rs61750603
NM_000552.4(VWF):c.7390C>T (p.Arg2464Cys) rs61751286
NM_000554.6(CRX):c.100+3_100+5delinsTTA rs1064796109
NM_000554.6(CRX):c.164dup (p.Ala56fs) rs1555801777
NM_000557.5(GDF5):c.466C>T (p.Arg156Ter) rs1194065564
NM_000557.5(GDF5):c.628C>T (p.Gln210Ter)
NM_000557.5(GDF5):c.788_810dup (p.Gly271Ter) rs764122274
NM_000587.4(C7):c.1490-4_1490-2delinsTT rs1064794728
NM_000587.4(C7):c.405del (p.Asn136fs) rs139491301
NM_000612.6(IGF2):c.97T>C (p.Cys33Arg) rs1057518115
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.1423+1G>T rs751952198
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112
NM_000642.3(AGL):c.2977_2982del (p.Phe993_Tyr994del) rs1064795630
NM_000642.3(AGL):c.4506_4510del (p.Glu1502fs) rs1064795728
NM_000660.7(TGFB1):c.897C>G (p.Tyr299Ter) rs1057521741
NM_000692.5(ALDH1B1):c.764T>C (p.Val255Ala) rs201458895
NM_000693.4(ALDH1A3):c.845G>A (p.Gly282Glu) rs547918064
NM_000702.4(ATP1A2):c.1017+5G>A rs1085307953
NM_000702.4(ATP1A2):c.1022G>T (p.Cys341Phe) rs1057521630
NM_000702.4(ATP1A2):c.1135del (p.Leu379fs) rs1570988755
NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His) rs765909830
NM_000702.4(ATP1A2):c.2102del (p.Gly701fs) rs1064794725
NM_000702.4(ATP1A2):c.2438T>A (p.Met813Lys) rs796052277
NM_000702.4(ATP1A2):c.835del (p.Arg279fs) rs1558005340
NM_000702.4(ATP1A2):c.882_897del (p.Gly295fs) rs1064796771
NM_000709.4(BCKDHA):c.1168-2A>G rs1555767285
NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met) rs1555968941
NM_000722.4(CACNA2D1):c.1848_1863del (p.Glu617fs) rs1554338713
NM_000744.7(CHRNA4):c.544T>C (p.Trp182Arg) rs796052317
NM_000747.3(CHRNB1):c.1218-9_1218-7del rs781689096
NM_000748.3(CHRNB2):c.923T>C (p.Val308Ala) rs281865070
NM_000751.3(CHRND):c.1345_1346del (p.Met449fs) rs1553575435
NM_000751.3(CHRND):c.933-2A>G rs1064795719
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs) rs1575206357
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) rs755532803
NM_000784.4(CYP27A1):c.67dup (p.His23fs) rs1559384522
NM_000785.4(CYP27B1):c.373G>A (p.Gly125Arg) rs1555202494
NM_000789.4(ACE):c.12_31del (p.Ser5fs) rs797045079
NM_000789.4(ACE):c.1487G>A (p.Arg496Gln) rs761345398
NM_000789.4(ACE):c.817C>T (p.Leu273Phe) rs1357918249
NM_000813.3(GABRB2):c.950_951delinsCA (p.Phe317Ser) rs1554093882
NM_000814.6(GABRB3):c.239T>C (p.Met80Thr) rs1064794797
NM_000814.6(GABRB3):c.485T>C (p.Met162Thr) rs1555368636
NM_000814.6(GABRB3):c.509T>G (p.Leu170Arg) rs1555368626
NM_000814.6(GABRB3):c.554C>T (p.Thr185Ile) rs1131691481
NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln) rs797045045
NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu)
NM_000814.6(GABRB3):c.838A>T (p.Ile280Phe) rs1057518036
NM_000814.6(GABRB3):c.881G>C (p.Arg294Pro) rs1085308023
NM_000814.6(GABRB3):c.914C>A (p.Ala305Asp) rs1555401425
NM_000834.4(GRIN2B):c.1858G>A (p.Val620Met) rs796052571
NM_000834.4(GRIN2B):c.1955C>G (p.Ala652Gly) rs879253912
NM_000834.4(GRIN2B):c.1970A>G (p.Glu657Gly) rs876661041
NM_000834.4(GRIN2B):c.2002G>T (p.Asp668Tyr) rs876661151
NM_000834.4(GRIN2B):c.2084T>G (p.Ile695Ser) rs876661219
NM_000834.4(GRIN2B):c.2201C>T (p.Ala734Val) rs876661064
NM_000834.4(GRIN2B):c.2251A>C (p.Ile751Leu) rs879254013
NM_000834.4(GRIN2B):c.2341C>G (p.Leu781Val) rs1064796752
NM_000834.4(GRIN2B):c.2450A>G (p.Asn817Ser) rs1555103159
NM_000834.4(GRIN2B):c.2452A>C (p.Met818Leu) rs876661076
NM_000834.4(GRIN2B):c.2515G>A (p.Glu839Lys) rs1085307547
NM_000834.4(GRIN2B):c.2589del (p.Ile864fs) rs796052578
NM_000834.4(GRIN2B):c.2926_2928del (p.Lys976del) rs876661102
NM_000834.4(GRIN2B):c.3006_3009dup (p.Tyr1004fs) rs1057518520
NM_000834.4(GRIN2B):c.99dup (p.Ser34fs) rs398122823
NM_000834.5(GRIN2B):c.2486dup (p.Met829fs) rs1591609065
NM_000834.5(GRIN2B):c.3915dup (p.Thr1306fs) rs1591605549
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr) rs121434304
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu) rs62638197
NM_000875.5(IGF1R):c.1862C>T (p.Ser621Leu) rs1131691583
NM_000875.5(IGF1R):c.1997-6G>A rs750280055
NM_000875.5(IGF1R):c.3087_3088del (p.Arg1029fs) rs1596468621
NM_000875.5(IGF1R):c.323del (p.Gly108fs) rs1064793151
NM_000891.2(KCNJ2):c.211G>A (p.Asp71Asn) rs199473369
NM_000891.2(KCNJ2):c.226T>G (p.Cys76Gly) rs786205812
NM_000891.2(KCNJ2):c.236T>C (p.Ile79Thr) rs786205813
NM_000891.2(KCNJ2):c.277G>A (p.Val93Ile) rs147750704
NM_000891.2(KCNJ2):c.565A>G (p.Arg189Gly) rs1131691475
NM_000891.2(KCNJ2):c.566G>A (p.Arg189Lys) rs199473381
NM_000891.2(KCNJ2):c.566G>T (p.Arg189Ile) rs199473381
NM_000891.2(KCNJ2):c.653G>C (p.Arg218Pro) rs199473384
NM_000891.2(KCNJ2):c.665T>C (p.Leu222Ser) rs1555603968
NM_000891.2(KCNJ2):c.896A>T (p.Glu299Val) rs786205817
NM_000891.2(KCNJ2):c.934C>T (p.Arg312Cys) rs199473389
NM_000900.5(MGP):c.94+1G>A rs111320759
NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter) rs1131691921
NM_000901.5(NR3C2):c.2903dup (p.Pro969fs) rs1578859390
NM_000925.4(PDHB):c.419T>A (p.Val140Glu) rs863224158
NM_000933.3(PLCB4):c.1889A>T (p.Asp630Val) rs1555839474
NM_000933.3(PLCB4):c.453G>T (p.Trp151Cys) rs1057521489
NM_000942.5(PPIB):c.414_417dup (p.Met140fs) rs1555496051
NM_000944.5(PPP3CA):c.1340-2A>G rs1553920188
NM_000944.5(PPP3CA):c.1394del (p.His465fs) rs1578382902
NM_000965.4(RARB):c.1160G>T (p.Arg387Leu) rs1131691740
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del) rs116840807
NM_001001331.4(ATP2B2):c.1369G>A (p.Glu457Lys) rs1064795322
NM_001001344.2(ATP2B3):c.3320G>A (p.Gly1107Asp) rs397514619
NM_001001412.3(CALHM1):c.461G>A (p.Arg154His) rs371900329
NM_001001547.3(CD36):c.1200-1G>C rs1064795310
NM_001001547.3(CD36):c.701+1G>C rs1064795836
NM_001002294.3(FMO3):c.1160G>A (p.Arg387His) rs72549331
NM_001002295.2(GATA3):c.1055del (p.Asn352fs) rs1564405153
NM_001002295.2(GATA3):c.1130_1139dup (p.His380fs) rs1588391546
NM_001002295.2(GATA3):c.1201_1202del (p.Met401fs) rs1085307641
NM_001002295.2(GATA3):c.242-1G>C rs1085307633
NM_001002295.2(GATA3):c.790T>C (p.Cys264Arg) rs767074039
NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp) rs377381866
NM_001003679.3(LEPR):c.93G>A (p.Trp31Ter) rs945135468
NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del) rs1553697341
NM_001003722.1(GLE1):c.1997G>T (p.Gly666Val) rs1064793630
NM_001003722.1(GLE1):c.2084T>C (p.Phe695Ser) rs762503273
NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del) rs1064795760
NM_001003800.2(BICD2):c.1646C>T (p.Pro549Leu) rs1064795764
NM_001003800.2(BICD2):c.2231C>T (p.Ser744Phe) rs1064793875
NM_001003800.2(BICD2):c.2320G>A (p.Glu774Lys) rs1131691347
NM_001003841.3(SLC6A19):c.180C>G (p.Tyr60Ter) rs1554033750
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346
NM_001003841.3(SLC6A19):c.941C>A (p.Ser314Ter) rs369804798
NM_001004127.3(ALG11):c.1223T>G (p.Met408Arg) rs1064795803
NM_001004127.3(ALG11):c.1402C>T (p.Arg468Cys) rs886039306
NM_001004127.3(ALG11):c.935A>G (p.Glu312Gly) rs1064795802
NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del) rs1064794465
NM_001004334.4(GPR179):c.2427dup (p.Pro810fs) rs757246221
NM_001004334.4(GPR179):c.3138_3139del (p.Glu1046fs) rs776189685
NM_001005242.2(PKP2):c.1807_1829del (p.Cys603fs) rs1555142963
NM_001005242.3(PKP2):c.1139del (p.Glu380fs) rs1592758957
NM_001005242.3(PKP2):c.1378+1G>C rs397516994
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) rs1064794350
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509
NM_001005271.3(CHD3):c.3073C>T (p.Arg1025Trp) rs1064795892
NM_001005360.2(DNM2):c.1070C>T (p.Ser357Phe) rs1064793101
NM_001005360.2(DNM2):c.1106G>T (p.Arg369Leu) rs121909089
NM_001005360.2(DNM2):c.1565G>T (p.Arg522Leu) rs587783595
NM_001005463.3(EBF3):c.1183C>T (p.Arg395Ter) rs1564816319
NM_001005463.3(EBF3):c.1330C>T (p.Gln444Ter) rs1172303286
NM_001005463.3(EBF3):c.191A>C (p.Lys64Thr) rs1131692262
NM_001005463.3(EBF3):c.471C>A (p.His157Gln) rs1131692260
NM_001005463.3(EBF3):c.716A>G (p.Lys239Arg) rs1554902885
NM_001006658.2(CR2):c.2298G>A (p.Trp766Ter) rs151093663
NM_001007792.1(NTRK1):c.123-3301_123-3300insT rs1131691595
NM_001007792.1(NTRK1):c.542T>A (p.Val181Glu) rs1064793219
NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter) rs934287314
NM_001008212.2(OPTN):c.1304dup (p.Ala436fs) rs1588449569
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.10961T>A (p.Leu3654His) rs1555446828
NM_001009944.3(PKD1):c.11251_11265dup (p.Gln3751_Gln3755dup) rs1057518104
NM_001009944.3(PKD1):c.12165del (p.Trp4056fs) rs1596474136
NM_001009944.3(PKD1):c.1259A>G (p.Tyr420Cys) rs755878230
NM_001009944.3(PKD1):c.1523G>T (p.Cys508Phe) rs1057518001
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del) rs1555454460
NM_001009944.3(PKD1):c.9398-1G>A rs1555449642
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) rs777024498
NM_001009999.3(KDM1A):c.1196A>G (p.Asp399Gly) rs1553130904
NM_001010867.4(IBA57):c.257_260del (p.Ala86fs) rs1002617439
NM_001010867.4(IBA57):c.625_650del (p.Pro209fs) rs1364436691
NM_001012763.1(GNRHR):c.30_31delinsAA (p.Asn10_Gln11delinsLysLys)
NM_001013703.4(EIF2AK4):c.1576_1580del (p.Glu526fs) rs1555417104
NM_001013838.3(CARMIL2):c.731C>G (p.Ser244Ter) rs751102649
NM_001015877.2(PHF6):c.556G>T (p.Gly186Ter) rs1569343210
NM_001015877.2(PHF6):c.875G>A (p.Cys292Tyr) rs1064795103
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.289G>C (p.Glu97Gln) rs1064793284
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.2(TPM1):c.410A>T (p.Asp137Val) rs730881134
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.592A>G (p.Lys198Glu) rs730881140
NM_001018005.2(TPM1):c.625G>A (p.Ala209Thr) rs730881159
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.2(TPM1):c.712C>T (p.Arg238Trp) rs397516386
NM_001018005.2(TPM1):c.743A>C (p.Lys248Thr) rs730881160
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001018005.2(TPM1):c.98A>C (p.Glu33Ala) rs886039444
NM_001022.4(RPS19):c.178A>C (p.Thr60Pro) rs782637049
NM_001022.4(RPS19):c.335TGG[1] (p.Val113del) rs1064794604
NM_001022.4(RPS19):c.49G>C (p.Ala17Pro) rs782329429
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter) rs779858591
NM_001024688.2(NBN):c.-141_-140del rs767454740
NM_001024688.2(NBN):c.-23del rs1554568344
NM_001024688.2(NBN):c.-286del rs1064793210
NM_001024688.2(NBN):c.-35_-32del rs1064795634
NM_001024688.2(NBN):c.495_496dup (p.Glu166fs) rs864309670
NM_001024845.3(SLC6A9):c.1492_1493del (p.Phe498fs) rs1553160504
NM_001024845.3(SLC6A9):c.290G>A (p.Gly97Glu) rs201267211
NM_001029882.3(AHDC1):c.1167del (p.Arg389fs) rs1553159581
NM_001029882.3(AHDC1):c.1169del (p.Pro390fs) rs1553159575
NM_001029882.3(AHDC1):c.1546G>T (p.Glu516Ter) rs1013039657
NM_001029882.3(AHDC1):c.2380C>T (p.Gln794Ter) rs1553158947
NM_001029883.3(PCARE):c.2298del (p.Arg767fs) rs1553354660
NM_001029883.3(PCARE):c.2393G>A (p.Trp798Ter) rs780585710
NM_001029883.3(PCARE):c.3717_3718del (p.Cys1240fs) rs1407602065
NM_001029896.2(WDR45):c.38G>C (p.Arg13Pro) rs201177026
NM_001029896.2(WDR45):c.41T>C (p.Phe14Ser) rs1064794744
NM_001029896.2(WDR45):c.436+5G>A rs1057521933
NM_001029896.2(WDR45):c.487G>T (p.Gly163Ter) rs1557084127
NM_001029896.2(WDR45):c.760G>A (p.Ala254Thr) rs1557083979
NM_001029896.2(WDR45):c.827+5G>A rs1557083956
NM_001030001.4(RPS29):c.63-3C>A rs1474053113
NM_001030001.4(RPS29):c.73T>C (p.Ser25Pro) rs1064795244
NM_001031726.3(C19orf12):c.187G>C (p.Ala63Pro) rs376103979
NM_001032221.6(STXBP1):c.767TGC[3] (p.Leu257dup) rs1554777488
NM_001033044.4(GLUL):c.1A>T (p.Met1Leu) rs1131691970
NM_001035.3(RYR2):c.1066T>G (p.Tyr356Asp) rs794728718
NM_001035.3(RYR2):c.11588G>A (p.Gly3863Asp) rs794728775
NM_001035.3(RYR2):c.11914A>G (p.Met3972Val) rs1085307997
NM_001035.3(RYR2):c.11959G>A (p.Glu3987Lys) rs794728778
NM_001035.3(RYR2):c.11995A>G (p.Met3999Val) rs794728780
NM_001035.3(RYR2):c.12002A>G (p.Asp4001Gly) rs1064793256
NM_001035.3(RYR2):c.12268C>T (p.Pro4090Ser) rs794728782
NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser) rs753850982
NM_001035.3(RYR2):c.12298G>A (p.Val4100Ile) rs758785338
NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe) rs794728785
NM_001035.3(RYR2):c.12326T>C (p.Met4109Thr) rs1373714510
NM_001035.3(RYR2):c.1250G>T (p.Arg417Leu) rs751428303
NM_001035.3(RYR2):c.12526G>A (p.Val4176Met) rs794728828
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) rs794728787
NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln) rs397516508
NM_001035.3(RYR2):c.12545A>C (p.Glu4182Ala) rs794728788
NM_001035.3(RYR2):c.12569T>G (p.Val4190Gly) rs1064794753
NM_001035.3(RYR2):c.12583G>A (p.Asp4195Asn) rs794728791
NM_001035.3(RYR2):c.13528G>T (p.Ala4510Ser) rs397516510
NM_001035.3(RYR2):c.13748C>A (p.Ser4583Tyr) rs886039458
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001035.3(RYR2):c.14159T>C (p.Leu4720Pro) rs794728801
NM_001035.3(RYR2):c.14173T>A (p.Tyr4725Asn) rs876661387
NM_001035.3(RYR2):c.14278G>A (p.Val4760Ile) rs794728831
NM_001035.3(RYR2):c.14341T>C (p.Tyr4781His) rs1553335836
NM_001035.3(RYR2):c.14600T>C (p.Ile4867Thr) rs1064796516
NM_001035.3(RYR2):c.14623G>C (p.Asp4875His) rs794728806
NM_001035.3(RYR2):c.14695G>A (p.Asp4899Asn) rs794728807
NM_001035.3(RYR2):c.14804G>C (p.Gly4935Ala) rs794728809
NM_001035.3(RYR2):c.14849A>G (p.Glu4950Gly) rs1057517873
NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu) rs1553343100
NM_001035.3(RYR2):c.14869T>A (p.Cys4957Ser) rs758500988
NM_001035.3(RYR2):c.14884T>A (p.Tyr4962Asn) rs748937501
NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys) rs794728832
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu) rs730880187
NM_001035.3(RYR2):c.218T>G (p.Leu73Arg) rs794728705
NM_001035.3(RYR2):c.499A>G (p.Lys167Glu) rs794728707
NM_001035.3(RYR2):c.502C>G (p.Gln168Glu) rs1085308008
NM_001035.3(RYR2):c.512_514del (p.Glu171del) rs794728812
NM_001035.3(RYR2):c.527G>T (p.Arg176Leu) rs794728708
NM_001035.3(RYR2):c.6598C>T (p.Leu2200Phe) rs794728743
NM_001035.3(RYR2):c.6683G>T (p.Gly2228Val) rs794728744
NM_001035.3(RYR2):c.6829T>C (p.Cys2277Arg) rs794727676
NM_001035.3(RYR2):c.6883G>A (p.Gly2295Arg) rs794728745
NM_001035.3(RYR2):c.6940G>A (p.Glu2314Lys) rs794728748
NM_001035.3(RYR2):c.6940_6942delinsAAA (p.Glu2314Lys) rs1553263732
NM_001035.3(RYR2):c.6950C>A (p.Ala2317Glu) rs794728750
NM_001035.3(RYR2):c.6957_6959del (p.Val2321del) rs794728834
NM_001035.3(RYR2):c.7025G>A (p.Gly2342Glu) rs794728751
NM_001035.3(RYR2):c.704G>A (p.Arg235Lys) rs794728711
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) rs794728753
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) rs794728754
NM_001035.3(RYR2):c.719A>C (p.His240Pro) rs369512347
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001035.3(RYR2):c.7385C>T (p.Pro2462Leu) rs794728757
NM_001035.3(RYR2):c.818C>T (p.Ser273Phe) rs794728715
NM_001037.5(SCN1B):c.108del (p.Phe36fs) rs1064794589
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001037.5(SCN1B):c.590+1G>A rs112767703
NM_001037811.2(HSD17B10):c.439C>T (p.Arg147Cys) rs1064794694
NM_001038603.3(MARVELD2):c.296G>A (p.Trp99Ter) rs993107184
NM_001038603.3(MARVELD2):c.595del (p.Val199fs) rs1554046316
NM_001038603.3(MARVELD2):c.880_890del (p.Phe294fs) rs770042200
NM_001039.4(SCNN1G):c.1278_1288del (p.Gln427fs) rs1596777509
NM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter) rs377748152
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs) rs750744696
NM_001039141.3(TRIOBP):c.4130G>A (p.Trp1377Ter) rs747619979
NM_001039141.3(TRIOBP):c.4232_4233del (p.Arg1411fs) rs1233777224
NM_001039141.3(TRIOBP):c.4526_4527del (p.Arg1509fs) rs1601639680
NM_001039141.3(TRIOBP):c.5488-2A>G rs776720591
NM_001039523.3(CHRNA1):c.1021A>C (p.Ile341Leu) rs1291364532
NM_001039523.3(CHRNA1):c.1396G>A (p.Gly466Arg) rs768407867
NM_001039523.3(CHRNA1):c.310-1G>A rs1064795046
NM_001039523.3(CHRNA1):c.593dup (p.Ser199fs) rs1064793397
NM_001039523.3(CHRNA1):c.697G>A (p.Val233Met) rs199470445
NM_001039523.3(CHRNA1):c.853G>T (p.Gly285Trp) rs1131691893
NM_001039591.3(USP9X):c.1303T>C (p.Trp435Arg) rs1064795608
NM_001039591.3(USP9X):c.1315-4A>G rs1057522024
NM_001039591.3(USP9X):c.392T>A (p.Ile131Asn) rs1085307914
NM_001039591.3(USP9X):c.517CTT[1] (p.Leu174del) rs1057518114
NM_001039591.3(USP9X):c.5216C>A (p.Thr1739Asn) rs1064795335
NM_001039591.3(USP9X):c.562A>G (p.Asn188Asp) rs757903212
NM_001039876.3(SYNE4):c.559C>T (p.Arg187Ter) rs750797779
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521