ClinVar Miner

Variants with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
ClinVar version:

Total variants with conflicting interpretations: 8061

HGVS dbSNP
FH Cape Town 2
GRCh37/hg19 16p11.2(chr16:29580020-30191848)x3
GRCh37/hg19 16p13.11(chr16:14897625-16516109)x1
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
Multiple alleles
NC_000006.12:g.5609990_5726136del116147
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000019.9:g.(11221448_11222189)_(11222316_11223953)del
NC_012920.1:m.14484T>C rs199476104
NM_000016.5(ACADM):c.1045C>T (p.Arg349Ter) rs148207467
NM_000016.5(ACADM):c.107_113dup (p.Ser38Argfs) rs875989875
NM_000016.5(ACADM):c.1114dup (p.Ala372Glyfs) rs1057516278
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.5(ACADM):c.244dupT (p.Trp82Leufs) rs786204566
NM_000016.5(ACADM):c.250C>T (p.Leu84Phe) rs762114560
NM_000016.5(ACADM):c.287-2A>G rs1057518677
NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr) rs875989859
NM_000016.5(ACADM):c.387+1delG rs786204424
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.449_452delCTGA (p.Thr150Argfs) rs786204642
NM_000016.5(ACADM):c.580A>G (p.Asn194Asp) rs773677327
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.599+2T>C rs148260275
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) rs373715782
NM_000016.5(ACADM):c.617G>A (p.Arg206His) rs200724875
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.817_829del (p.Ala273Leufs) rs875989872
NM_000016.5(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000016.5(ACADM):c.926dup (p.Gly310Argfs) rs875989864
NM_000016.5(ACADM):c.928G>A (p.Gly310Arg) rs747268471
NM_000016.5(ACADM):c.984del (p.Met328Ilefs) rs747610156
NM_000016.5(ACADM):c.999_1011dup (p.Gln338Terfs) rs1225471006
NM_000017.2(ACADS):c.1095G>T (p.Gln365His) rs368469075
NM_000017.2(ACADS):c.164C>T (p.Pro55Leu) rs147442301
NM_000017.2(ACADS):c.369C>G (p.Tyr123Ter) rs749491616
NM_000017.2(ACADS):c.988C>T (p.Arg330Cys) rs140853839
NM_000017.3(ACADS):c.1031A>G (p.Glu344Gly) rs387906950
NM_000017.3(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.3(ACADS):c.1138C>T (p.Arg380Trp) rs28940875
NM_000017.3(ACADS):c.1147C>T (p.Arg383Cys) rs28940872
NM_000017.3(ACADS):c.136C>T (p.Arg46Trp) rs121908003
NM_000017.3(ACADS):c.310_312delGAG (p.Glu104del) rs387906308
NM_000017.3(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000017.3(ACADS):c.529T>C (p.Trp177Arg) rs57443665
NM_000017.3(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_000017.3(ACADS):c.682_683delGA (p.Glu228Argfs) rs786204691
NM_000018.2(ACADVL):c.1182+1G>A rs113690956
NM_000018.3(ACADVL):c.1077+1G>A rs140989450
NM_000018.3(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.3(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113
NM_000018.3(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083
NM_000018.3(ACADVL):c.1679-6G>A rs113994171
NM_000018.3(ACADVL):c.1806_1807delCT (p.Cys603Terfs) rs796051917
NM_000018.3(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014
NM_000018.3(ACADVL):c.266delC (p.Pro89Hisfs) rs771808680
NM_000018.3(ACADVL):c.298_299delCA (p.Gln100Valfs) rs786204713
NM_000018.3(ACADVL):c.343delG (p.Glu115Lysfs) rs387906249
NM_000018.3(ACADVL):c.388_390delGAG (p.Glu130del) rs387906251
NM_000018.3(ACADVL):c.428_467del40 (p.Gly143Alafs) rs758144859
NM_000018.3(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.3(ACADVL):c.685C>T (p.Arg229Ter) rs786204536
NM_000018.3(ACADVL):c.779C>T (p.Thr260Met) rs113994168
NM_000018.3(ACADVL):c.799_802delGTTA (p.Val267Glnfs) rs761204548
NM_000018.3(ACADVL):c.865G>A (p.Gly289Arg) rs200788251
NM_000018.3(ACADVL):c.887_888delCT (p.Pro296Argfs) rs753108198
NM_000018.3(ACADVL):c.896_898delAGA (p.Lys299del) rs387906252
NM_000018.3(ACADVL):c.996dupT (p.Ala333Cysfs) rs1057516843
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_000019.3(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093
NM_000019.3(ACAT1):c.444_445delGG (p.Met148Ilefs) rs727503795
NM_000019.3(ACAT1):c.455G>C (p.Gly152Ala) rs762991875
NM_000019.3(ACAT1):c.472A>G (p.Asn158Asp) rs148639841
NM_000019.3(ACAT1):c.473A>G (p.Asn158Ser) rs199524907
NM_000020.2(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.2(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686
NM_000020.2(ACVRL1):c.1336C>T (p.Gln446Ter) rs1064794217
NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.2(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414
NM_000020.2(ACVRL1):c.986G>A (p.Arg329His) rs863223412
NM_000021.3(PSEN1):c.1141C>T (p.Leu381Phe) rs63750687
NM_000021.3(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.3(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.3(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000021.3(PSEN1):c.799C>T (p.Pro267Ser) rs63751229
NM_000022.2(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.2(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.2(ADA):c.466C>T (p.Arg156Cys) rs121908735
NM_000022.2(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.2(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.2(ADA):c.956_960delAAGAG (p.Glu319Glyfs) rs771266745
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.3(ADA):c.219-2A>G rs387906267
NM_000022.3(ADA):c.467G>A (p.Arg156His) rs121908722
NM_000022.3(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.3(ADA):c.704G>A (p.Arg235Gln) rs79281338
NM_000022.3(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000023.2(SGCA):c.100C>T (p.Arg34Cys) rs758647756
NM_000023.2(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.2(SGCA):c.850C>T (p.Arg284Cys) rs137852623
NM_000023.3(SGCA):c.101G>A (p.Arg34His) rs371675217
NM_000023.3(SGCA):c.292C>T (p.Arg98Cys) rs138945081
NM_000023.3(SGCA):c.293G>A (p.Arg98His) rs137852621
NM_000023.3(SGCA):c.322_325dup (p.Asn109Ilefs) rs1555568522
NM_000023.3(SGCA):c.371T>C (p.Ile124Thr) rs768814872
NM_000023.3(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.3(SGCA):c.409G>A (p.Glu137Lys) rs372210292
NM_000023.3(SGCA):c.489delA (p.Leu164Serfs) rs753650776
NM_000023.3(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000026.2(ADSL):c.1187G>A (p.Arg396His) rs763542069
NM_000026.2(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
NM_000026.2(ADSL):c.569G>A (p.Arg190Gln) rs28941471
NM_000026.3(ADSL):c.253C>T (p.Arg85Ter) rs1036185928
NM_000026.3(ADSL):c.736A>G (p.Lys246Glu) rs119450944
NM_000027.3(AGA):c.102_108delGCCCTTT (p.Trp34Terfs) rs386833417
NM_000027.3(AGA):c.127_127+1insATGCGG (p.42_43insAspAla) rs386833418
NM_000027.3(AGA):c.200_201delAG (p.Glu67Alafs) rs386833420
NM_000027.3(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.3(AGA):c.336delT (p.Ile112Metfs) rs386833422
NM_000027.3(AGA):c.373_376delACAC (p.Thr125Phefs) rs386833425
NM_000027.3(AGA):c.473G>A (p.Trp158Ter) rs745976989
NM_000027.3(AGA):c.677G>A (p.Gly226Asp) rs386833431
NM_000027.3(AGA):c.807_940del134 rs386833437
NM_000027.4(AGA):c.800dup (p.Pro268Alafs) rs386833436
NM_000030.2(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.2(AGXT):c.106C>T (p.Arg36Cys) rs180177157
NM_000030.2(AGXT):c.1079G>A (p.Arg360Gln) rs180177161
NM_000030.2(AGXT):c.116_117dupCA (p.Ala40Glnfs) rs180177166
NM_000030.2(AGXT):c.121G>A (p.Gly41Arg) rs121908523
NM_000030.2(AGXT):c.122G>T (p.Gly41Val) rs180177168
NM_000030.2(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.2(AGXT):c.221_227dupTCACACT (p.Val77Hisfs) rs180177183
NM_000030.2(AGXT):c.245G>A (p.Gly82Glu) rs121908522
NM_000030.2(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.2(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.2(AGXT):c.33delC (p.Lys12Argfs) rs180177201
NM_000030.2(AGXT):c.346G>A (p.Gly116Arg) rs180177207
NM_000030.2(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.2(AGXT):c.481G>A (p.Gly161Ser) rs180177227
NM_000030.2(AGXT):c.481G>T (p.Gly161Cys) rs180177227
NM_000030.2(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.2(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.2(AGXT):c.560C>T (p.Ser187Phe) rs180177238
NM_000030.2(AGXT):c.568G>A (p.Gly190Arg) rs180177239
NM_000030.2(AGXT):c.577delC (p.Leu193Phefs) rs180177241
NM_000030.2(AGXT):c.653C>T (p.Ser218Leu) rs180177253
NM_000030.2(AGXT):c.697C>T (p.Arg233Cys) rs121908526
NM_000030.2(AGXT):c.698G>A (p.Arg233His) rs121908527
NM_000030.2(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000030.2(AGXT):c.737G>A (p.Trp246Ter) rs180177259
NM_000030.2(AGXT):c.777-1G>C rs180177267
NM_000030.2(AGXT):c.847-1G>C rs180177285
NM_000030.2(AGXT):c.891T>G (p.Tyr297Ter) rs180177292
NM_000030.2(AGXT):c.907C>T (p.Gln303Ter) rs180177294
NM_000030.2(AGXT):c.943-1G>T rs180177298
NM_000030.2(AGXT):c.976delG (p.Val326Tyrfs) rs180177301
NM_000030.2(AGXT):c.996G>A (p.Trp332Ter) rs796052064
NM_000031.5(ALAD):c.36C>G (p.Phe12Leu) rs121912984
NM_000033.3(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.3(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.3(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.3(ABCD1):c.1866-10G>A rs398123108
NM_000033.3(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.3(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.3(ABCD1):c.874_876delGAG (p.Glu292del) rs387906496
NM_000033.3(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000035.3(ALDOB):c.360_363delCAAA (p.Asn120Lysfs) rs387906225
NM_000035.4(ALDOB):c.-11+1G>C rs181639417
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608
NM_000036.2(AMPD1):c.1261C>T (p.Arg421Trp) rs35859650
NM_000036.2(AMPD1):c.1373G>A (p.Arg458His) rs121912682
NM_000038.5(APC):c.-30416G>A rs879253785
NM_000038.5(APC):c.1229dupT (p.Leu410Phefs) rs863225308
NM_000038.5(APC):c.1246dupT (p.Tyr416Leufs) rs1060503366
NM_000038.5(APC):c.1312+3A>G rs863225311
NM_000038.5(APC):c.1626+1G>A rs1554081934
NM_000038.5(APC):c.1705delG (p.Val569Terfs) rs1554082135
NM_000038.5(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.5(APC):c.1892_1904delTTATTGAAAGTGGinsAAT (p.Ile631Lysfs) rs863225319
NM_000038.5(APC):c.1956C>T (p.His652=) rs1064793716
NM_000038.5(APC):c.1957A>G (p.Arg653Gly) rs1114167580
NM_000038.5(APC):c.1958G>A (p.Arg653Lys) rs1060503318
NM_000038.5(APC):c.1958G>T (p.Arg653Met) rs1060503318
NM_000038.5(APC):c.1959-1G>A rs863225321
NM_000038.5(APC):c.1959-2A>G rs876658214
NM_000038.5(APC):c.220+2T>A rs587781809
NM_000038.5(APC):c.220G>T (p.Glu74Ter) rs876658941
NM_000038.5(APC):c.221-1G>A rs863225327
NM_000038.5(APC):c.221-2A>G rs786201291
NM_000038.5(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.5(APC):c.2804dupA (p.Tyr935Terfs) rs863225332
NM_000038.5(APC):c.288T>A (p.Tyr96Ter) rs376213437
NM_000038.5(APC):c.298delG (p.Glu100Lysfs) rs1064794224
NM_000038.5(APC):c.301G>T (p.Gly101Ter) rs863225335
NM_000038.5(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000038.5(APC):c.3298_3301delTCTC (p.Ser1100Hisfs) rs863225341
NM_000038.5(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.5(APC):c.3785dupA (p.Tyr1262Terfs) rs863225345
NM_000038.5(APC):c.3815C>G (p.Ser1272Ter) rs863225348
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.3927_3931delAAAGA (p.Glu1309Aspfs) rs121913224
NM_000038.5(APC):c.4012C>T (p.Gln1338Ter) rs121913327
NM_000038.5(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000038.5(APC):c.475dupT (p.Tyr159Leufs) rs863225361
NM_000038.5(APC):c.476dupA (p.Tyr159Terfs) rs878853451
NM_000038.5(APC):c.4831C>T (p.Gln1611Ter) rs774847203
NM_000038.5(APC):c.508_509delGA (p.Asp170Terfs) rs886039642
NM_000038.5(APC):c.5145delC (p.Asp1715Glufs) rs863225363
NM_000038.5(APC):c.524_531+4delCTGAAAATGTAA rs863225364
NM_000038.5(APC):c.531+1G>C rs876659973
NM_000038.5(APC):c.531+2T>C rs863225365
NM_000038.5(APC):c.531+5G>C rs587779798
NM_000038.5(APC):c.532-8G>A rs1060503323
NM_000038.5(APC):c.5804dupA (p.Ser1936Valfs) rs863225367
NM_000038.5(APC):c.6059_6062delGTTT (p.Cys2020Serfs) rs876660174
NM_000038.5(APC):c.6281delC (p.Pro2094Leufs) rs876660816
NM_000038.5(APC):c.6371T>A (p.Leu2124Ter) rs1057517568
NM_000038.5(APC):c.645+1G>A rs863225370
NM_000038.5(APC):c.6610C>T (p.Arg2204Ter) rs752654519
NM_000038.5(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.5(APC):c.7477_7478delCT (p.Leu2493Ilefs) rs1554088391
NM_000038.5(APC):c.7511G>A (p.Trp2504Ter) rs755046558
NM_000038.5(APC):c.933+1G>A rs876660765
NM_000038.5(APC):c.935dupT (p.Glu313Glyfs) rs587781451
NM_000043.5(FAS):c.651+1G>A
NM_000043.5(FAS):c.749G>C (p.Arg250Pro) rs121913080
NM_000044.4(AR):c.1768+2T>C rs1555982894
NM_000044.4(AR):c.1823G>A (p.Arg608Gln) rs137852573
NM_000044.4(AR):c.2395C>G (p.Gln799Glu) rs137852591
NM_000045.3(ARG1):c.272dupG (p.Arg92Lysfs) rs796051923
NM_000045.3(ARG1):c.703G>A (p.Gly235Arg) rs104893948
NM_000045.3(ARG1):c.871C>T (p.Arg291Ter) rs104893940
NM_000046.4(ARSB):c.1143-8T>G rs431905496
NM_000046.4(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.4(ARSB):c.284G>A (p.Arg95Gln) rs118203942
NM_000046.4(ARSB):c.349T>C (p.Cys117Arg) rs118203939
NM_000046.4(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.4(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000046.4(ARSB):c.971G>T (p.Gly324Val) rs398123125
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000048.3(ASL):c.1135C>T (p.Arg379Cys) rs28940287
NM_000048.3(ASL):c.175G>A (p.Glu59Lys) rs869312985
NM_000048.3(ASL):c.299T>C (p.Ile100Thr) rs202142867
NM_000048.3(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000048.3(ASL):c.545G>A (p.Arg182Gln) rs751590073
NM_000048.3(ASL):c.578G>A (p.Arg193Gln) rs373697663
NM_000049.2(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.2(ASPA):c.244dupA (p.Met82Asnfs) rs756198538
NM_000049.2(ASPA):c.634+1G>T rs753871454
NM_000049.2(ASPA):c.746A>T (p.Asp249Val) rs104894552
NM_000049.2(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000049.2(ASPA):c.859G>A (p.Ala287Thr) rs774323189
NM_000050.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126
NM_000050.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640
NM_000050.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_000050.4(ASS1):c.1194-1G>C rs727503814
NM_000050.4(ASS1):c.256C>T (p.Arg86Cys) rs121908644
NM_000050.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636
NM_000050.4(ASS1):c.450_451delCT (p.Phe150Leufs) rs786204648
NM_000050.4(ASS1):c.496-2A>G rs398123130
NM_000050.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_000050.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000
NM_000050.4(ASS1):c.773+49C>T rs763389916
NM_000050.4(ASS1):c.787G>A (p.Val263Met) rs192838388
NM_000050.4(ASS1):c.794G>A (p.Arg265His) rs398123131
NM_000050.4(ASS1):c.805G>A (p.Val269Met) rs370595480
NM_000050.4(ASS1):c.814C>T (p.Arg272Cys) rs762387914
NM_000050.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645
NM_000050.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106
NM_000050.4(ASS1):c.892delG (p.Glu298Argfs) rs770362721
NM_000050.4(ASS1):c.970+5G>A rs372128852
NM_000050.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.3(ATM):c.1109dup (p.Tyr370Terfs) rs1555069617
NM_000051.3(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.3(ATM):c.1139_1142dupACAG (p.Ser381Argfs) rs886041340
NM_000051.3(ATM):c.119_122delTTAA (p.Ile40Asnfs) rs876659116
NM_000051.3(ATM):c.1215delT (p.Asn405Lysfs) rs1555069815
NM_000051.3(ATM):c.1236-2A>G rs80159221
NM_000051.3(ATM):c.1249delA (p.Thr417Profs) rs786203166
NM_000051.3(ATM):c.1290_1291delTG (p.Cys430Terfs) rs587781598
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.1355delC (p.Thr452Asnfs) rs587781776
NM_000051.3(ATM):c.1402_1403delAA (p.Lys468Glufs) rs587781347
NM_000051.3(ATM):c.1435_1436delGA (p.Asp479Phefs) rs1555070947
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1524delT (p.Gly509Glufs) rs786204737
NM_000051.3(ATM):c.1607+1G>T rs772926890
NM_000051.3(ATM):c.1898+2T>G rs587782124
NM_000051.3(ATM):c.1915_1916insT (p.Asp639Valfs) rs1060501610
NM_000051.3(ATM):c.192delA (p.Leu64Phefs) rs878853490
NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.3(ATM):c.1960C>T (p.Gln654Ter) rs528165789
NM_000051.3(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.3(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.3(ATM):c.2023C>T (p.Gln675Ter) rs777849257
NM_000051.3(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2251-1G>C rs876659710
NM_000051.3(ATM):c.2284_2285delCT (p.Leu762Valfs) rs587781658
NM_000051.3(ATM):c.2286_2287delGT (p.Phe763Terfs) rs1064795831
NM_000051.3(ATM):c.2295delT (p.Asn765Lysfs) rs876658583
NM_000051.3(ATM):c.2377_2378dupAA (p.Ser794Argfs) rs1057516980
NM_000051.3(ATM):c.237delA (p.Lys79Asnfs) rs730881303
NM_000051.3(ATM):c.2606_2607delCA (p.Ala869Glufs) rs1057516944
NM_000051.3(ATM):c.2638+2T>C rs587779826
NM_000051.3(ATM):c.2730_2731insAG (p.Ala911Argfs) rs1064794437
NM_000051.3(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.2880delC (p.Leu961Cysfs) rs730881300
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2921+1G>C rs587781558
NM_000051.3(ATM):c.2921+1G>T rs587781558
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3078-1G>A rs750663117
NM_000051.3(ATM):c.3218dupT (p.Phe1074Ilefs) rs876660741
NM_000051.3(ATM):c.331+5G>A rs752135143
NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833
NM_000051.3(ATM):c.3381_3384delTCAG (p.Gln1128Lysfs) rs587781971
NM_000051.3(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.3(ATM):c.3712_3716delTTATT (p.Leu1238Lysfs) rs786201675
NM_000051.3(ATM):c.3747-1G>C rs730881364
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.378delT (p.Asp126Glufs) rs587781449
NM_000051.3(ATM):c.387delA (p.Asp130Ilefs) rs745642834
NM_000051.3(ATM):c.3880dupA (p.Ile1294Asnfs) rs1057516541
NM_000051.3(ATM):c.3935dupG (p.Glu1313Argfs) rs876659672
NM_000051.3(ATM):c.3993+1G>A rs200196781
NM_000051.3(ATM):c.3994-2A>G rs587782276
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.3(ATM):c.4019_4029delTACCAGAGATT (p.Leu1340Cysfs) rs1057517140
NM_000051.3(ATM):c.4084_4085delAG (p.Ser1362Hisfs) rs886039488
NM_000051.3(ATM):c.4098_4099delTG (p.Cys1366Terfs) rs876658248
NM_000051.3(ATM):c.4104_4105delTT (p.Ser1369Argfs) rs879254189
NM_000051.3(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640
NM_000051.3(ATM):c.4111delG (p.Asp1371Ilefs) rs797045114
NM_000051.3(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.3(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.3(ATM):c.4437-1G>C rs759520465
NM_000051.3(ATM):c.4451delT (p.Met1484Argfs) rs1555099760
NM_000051.3(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164
NM_000051.3(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.3(ATM):c.4664delT (p.Leu1555Profs) rs876659039
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.4776+1G>T rs771117943
NM_000051.3(ATM):c.4776+2_4776+13delTAATAAAAATTT rs762838462
NM_000051.3(ATM):c.478_482delTCTCA (p.Ser160Alafs) rs587780624
NM_000051.3(ATM):c.4879C>T (p.Gln1627Ter) rs886039592
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter) rs764389018
NM_000051.3(ATM):c.5209_5210delTT (p.Leu1737Glufs) rs1555105660
NM_000051.3(ATM):c.5290delC (p.Leu1764Tyrfs) rs587779846
NM_000051.3(ATM):c.5320-5_5320-2delTCTA rs730881310
NM_000051.3(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.3(ATM):c.5460dupA (p.Cys1821Metfs) rs1057516760
NM_000051.3(ATM):c.5497-2A>C rs786203796
NM_000051.3(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.3(ATM):c.5549delT (p.Leu1850Tyrfs) rs876658287
NM_000051.3(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.3(ATM):c.5644C>T (p.Arg1882Ter) rs786204433
NM_000051.3(ATM):c.5712dupA (p.Ser1905Ilefs) rs587781730
NM_000051.3(ATM):c.5791delGinsCCT (p.Ala1931Profs) rs587779851
NM_000051.3(ATM):c.5798G>A (p.Trp1933Ter) rs876658740
NM_000051.3(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.3(ATM):c.5894_5900dupAAAGTAT (p.Met1967Ilefs) rs1555110517
NM_000051.3(ATM):c.5910delA (p.Glu1971Argfs) rs587782198
NM_000051.3(ATM):c.5982delA (p.Glu1995Lysfs) rs1555111855
NM_000051.3(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.3(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.3(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000051.3(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6198+1G>A rs778031266
NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.3(ATM):c.6312G>A (p.Trp2104Ter) rs1555114766
NM_000051.3(ATM):c.6347+1G>A rs1057517120
NM_000051.3(ATM):c.6404_6405insTT (p.Arg2136Terfs) rs587782554
NM_000051.3(ATM):c.640delT (p.Ser214Profs) rs786204543
NM_000051.3(ATM):c.652C>T (p.Gln218Ter) rs1555066551
NM_000051.3(ATM):c.6572+1G>A rs587779856
NM_000051.3(ATM):c.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.3(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.3(ATM):c.6850delG (p.Val2284Leufs) rs876659569
NM_000051.3(ATM):c.6976-10_6989delTCTTATACAGAACAATCCCAGCCT rs587779859
NM_000051.3(ATM):c.6997dupA (p.Thr2333Asnfs) rs587781299
NM_000051.3(ATM):c.7000_7003delTACA (p.Tyr2334Glnfs) rs786203421
NM_000051.3(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.7456C>T (p.Arg2486Ter) rs587779865
NM_000051.3(ATM):c.756_757delTG (p.Cys252Terfs) rs876659003
NM_000051.3(ATM):c.7629_7629+4delTGTAA rs876660041
NM_000051.3(ATM):c.7630-2A>G rs587779866
NM_000051.3(ATM):c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del) rs587776547
NM_000051.3(ATM):c.7699_7702delAACA (p.Asn2567Glufs) rs1060501547
NM_000051.3(ATM):c.7705_7706delGA (p.Asp2569Terfs) rs759965045
NM_000051.3(ATM):c.7767delA (p.Lys2589Asnfs) rs1057517025
NM_000051.3(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.3(ATM):c.7789-3T>G rs864622185
NM_000051.3(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.3(ATM):c.7838_7839dupGA (p.Pro2614Aspfs) rs730881293
NM_000051.3(ATM):c.7858delG (p.Val2620Leufs) rs1555125349
NM_000051.3(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.3(ATM):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7880delA (p.Tyr2627Leufs) rs1057516599
NM_000051.3(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.3(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.3(ATM):c.7951C>T (p.Gln2651Ter) rs587781994
NM_000051.3(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.3(ATM):c.7998dupT (p.Met2667Tyrfs) rs587779869
NM_000051.3(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8146G>T (p.Val2716Phe) rs730881385
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.3(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.3(ATM):c.8266A>T (p.Lys2756Ter) rs371638537
NM_000051.3(ATM):c.8292_8293delTG (p.Ser2764Argfs) rs879254036
NM_000051.3(ATM):c.8293G>A (p.Gly2765Ser) rs748634900
NM_000051.3(ATM):c.829G>T (p.Glu277Ter) rs876660933
NM_000051.3(ATM):c.8307G>A (p.Trp2769Ter) rs778269655
NM_000051.3(ATM):c.8371_8374delTACA (p.Tyr2791Glyfs) rs1064793046
NM_000051.3(ATM):c.8395_8404delTTTCAGTGCC (p.Phe2799Lysfs) rs786202800
NM_000051.3(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.3(ATM):c.8549T>A (p.Leu2850Ter) rs876658716
NM_000051.3(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.3(ATM):c.8786+1G>A rs17174393
NM_000051.3(ATM):c.8786+1G>T rs17174393
NM_000051.3(ATM):c.8793T>A (p.Cys2931Ter) rs1555143494
NM_000051.3(ATM):c.8802delC (p.Met2935Trpfs) rs876660567
NM_000051.3(ATM):c.8814_8824delGAGAAACTCTC (p.Met2938Ilefs) rs758814126
NM_000051.3(ATM):c.8876_8879delACTG (p.Asp2959Glyfs) rs786204726
NM_000051.3(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.3(ATM):c.8988-1G>A rs730881386
NM_000051.3(ATM):c.8998C>T (p.Gln3000Ter) rs587781698
NM_000051.3(ATM):c.8delT (p.Leu3Glnfs) rs879254052
NM_000051.3(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000051.3(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000051.3(ATM):c.9064dupG (p.Glu3022Glyfs) rs1057516282
NM_000051.3(ATM):c.9079dupA (p.Ser3027Lysfs) rs587780645
NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter) rs121434219
NM_000053.3(ATP7B):c.1145_1151delCCCAACT (p.Ser382Trpfs) rs1176709391
NM_000053.3(ATP7B):c.1470C>A (p.Cys490Ter) rs778675259
NM_000053.3(ATP7B):c.1708-1G>C rs137853280
NM_000053.3(ATP7B):c.1708-5T>G rs770829226
NM_000053.3(ATP7B):c.1716delG (p.Met573Terfs) rs1057516893
NM_000053.3(ATP7B):c.1745_1746delTA (p.Ile582Argfs) rs753962912
NM_000053.3(ATP7B):c.1782delT (p.Tyr594Terfs) rs780327716
NM_000053.3(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.3(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.3(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.3(ATP7B):c.19_20delCA (p.Gln7Aspfs) rs749363958
NM_000053.3(ATP7B):c.2009_2015delATATGCT (p.Tyr670Terfs) rs779904655
NM_000053.3(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.3(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801
NM_000053.3(ATP7B):c.2122-8T>G rs193922102
NM_000053.3(ATP7B):c.2293G>A (p.Asp765Asn) rs28942075
NM_000053.3(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854
NM_000053.3(ATP7B):c.2519C>T (p.Pro840Leu) rs768671894
NM_000053.3(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.3(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.3(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.3(ATP7B):c.2731-2A>G rs367956522
NM_000053.3(ATP7B):c.2755C>G (p.Arg919Gly) rs121907993
NM_000053.3(ATP7B):c.2804C>T (p.Thr935Met) rs750019452
NM_000053.3(ATP7B):c.2810delT (p.Val937Glyfs) rs1057516643
NM_000053.3(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689
NM_000053.3(ATP7B):c.2865+1G>A rs587783306
NM_000053.3(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.3(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300
NM_000053.3(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.3(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.3(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220
NM_000053.3(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989
NM_000053.3(ATP7B):c.3449delA (p.Asn1150Thrfs) rs1555285380
NM_000053.3(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120
NM_000053.3(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547
NM_000053.3(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.3(ATP7B):c.3664delG (p.Asp1222Thrfs) rs886042519
NM_000053.3(ATP7B):c.3818C>T (p.Pro1273Leu) rs758355520
NM_000053.3(ATP7B):c.388_389dupGC (p.Ala131Glnfs) rs1057517384
NM_000053.3(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.3(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109
NM_000053.3(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.3(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110
NM_000053.3(ATP7B):c.51+4A>T rs369488210
NM_000053.3(ATP7B):c.524_525delAA (p.Lys175Serfs) rs558037268
NM_000053.3(ATP7B):c.778dupC (p.Gln260Profs) rs786204570
NM_000053.3(ATP7B):c.865C>T (p.Gln289Ter) rs121907999
NM_000054.4(AVPR2):c.554delG (p.Gly185Valfs) rs193922116
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807
NM_000055.2(BCHE):c.428G>A (p.Gly143Asp) rs201820739
NM_000055.2(BCHE):c.812C>T (p.Thr271Met) rs28933389
NM_000055.3(BCHE):c.1004T>C (p.Leu335Pro) rs104893684
NM_000057.2(BLM):c.3475_3476delTT (p.Leu1159Ilefs) rs367543033
NM_000057.2(BLM):c.98+1G>T rs750293380
NM_000057.3(BLM):c.1301C>G (p.Ser434Ter) rs754203833
NM_000057.3(BLM):c.1479_1480delTA (p.Thr494Profs) rs746244182
NM_000057.3(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.3(BLM):c.2074+1G>T rs367543036
NM_000057.3(BLM):c.2250_2251insAAAT (p.Leu751Lysfs) rs786204471
NM_000057.3(BLM):c.2343_2344dupGA (p.Asn782Argfs) rs1555420842
NM_000057.3(BLM):c.2488dupA (p.Thr830Asnfs) rs367543019
NM_000057.3(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.3(BLM):c.298_299delCA (p.Gln100Glufs) rs745807085
NM_000057.3(BLM):c.3028delG (p.Asp1010Metfs) rs780379121
NM_000057.3(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.3(BLM):c.3210+2delT rs587779886
NM_000057.3(BLM):c.3558+1G>T rs148969222
NM_000057.3(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.3(BLM):c.772_773delCT (p.Leu258Glufs) rs367543013
NM_000057.3(BLM):c.991_995delAAAGA (p.Lys331Glyfs) rs786204524
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964
NM_000059.3(BRCA2):c.-39-2A>G rs1555280053
NM_000059.3(BRCA2):c.1054dupT (p.Tyr352Leufs) rs80359261
NM_000059.3(BRCA2):c.1179T>A (p.Cys393Ter) rs786201237
NM_000059.3(BRCA2):c.1189C>T (p.Gln397Ter) rs760815829
NM_000059.3(BRCA2):c.1211dupA (p.Asn404Lysfs) rs1555281775
NM_000059.3(BRCA2):c.1296_1297delGA (p.Asn433Glnfs) rs80359276
NM_000059.3(BRCA2):c.1368_1369dupGA (p.Lys457Argfs) rs397507583
NM_000059.3(BRCA2):c.1379delA (p.Asn460Metfs) rs1064793945
NM_000059.3(BRCA2):c.1456C>T (p.Gln486Ter) rs80358434
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.1689G>A (p.Trp563Ter) rs80358456
NM_000059.3(BRCA2):c.1733delG (p.Gly578Valfs) rs879255326
NM_000059.3(BRCA2):c.1792dupA (p.Thr598Asnfs) rs886040389
NM_000059.3(BRCA2):c.17_18delAA (p.Lys6Argfs) rs80359298
NM_000059.3(BRCA2):c.1850C>A (p.Ser617Ter) rs397507278
NM_000059.3(BRCA2):c.1907C>G (p.Ser636Ter) rs431825288
NM_000059.3(BRCA2):c.1909+1G>A rs587781629
NM_000059.3(BRCA2):c.1910-1G>T
NM_000059.3(BRCA2):c.2251dupA (p.Thr751Asnfs) rs886040416
NM_000059.3(BRCA2):c.2253_2254delTG (p.Asp752Leufs) rs398122744
NM_000059.3(BRCA2):c.2380dupA (p.Met794Asnfs) rs730881602
NM_000059.3(BRCA2):c.2398_2423dup (p.Leu809Valfs) rs1555282658
NM_000059.3(BRCA2):c.2480dupA (p.Asn827Lysfs) rs397507286
NM_000059.3(BRCA2):c.2581C>T (p.Gln861Ter) rs773356478
NM_000059.3(BRCA2):c.2593G>T (p.Glu865Ter) rs587782014
NM_000059.3(BRCA2):c.2731delG (p.Glu911Lysfs) rs80359344
NM_000059.3(BRCA2):c.2743_2747delACTTG (p.Thr915Cysfs) rs786204752
NM_000059.3(BRCA2):c.2748delT (p.Cys916Trpfs) rs886040443
NM_000059.3(BRCA2):c.2786delT (p.Leu929Tyrfs) rs80359347
NM_000059.3(BRCA2):c.2860G>T (p.Glu954Ter) rs1555282911
NM_000059.3(BRCA2):c.2870delA (p.Asn957Ilefs) rs397507645
NM_000059.3(BRCA2):c.2881C>T (p.Gln961Ter) rs80358538
NM_000059.3(BRCA2):c.2T>C (p.Met1Thr) rs80358547
NM_000059.3(BRCA2):c.3009_3010delCA (p.His1003Glnfs) rs397507300
NM_000059.3(BRCA2):c.308dupT (p.Leu103Phefs) rs1057517572
NM_000059.3(BRCA2):c.316+1G>A rs397507303
NM_000059.3(BRCA2):c.316+1G>T rs397507303
NM_000059.3(BRCA2):c.316+5G>A rs81002840
NM_000059.3(BRCA2):c.316+5G>C rs81002840
NM_000059.3(BRCA2):c.3167_3170delAAAA (p.Gln1056Argfs) rs80359372
NM_000059.3(BRCA2):c.3174dup (p.Leu1059Thrfs) rs1555283079
NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs) rs80359380
NM_000059.3(BRCA2):c.3273_3276delATTT (p.Leu1091Phefs) rs80359382
NM_000059.3(BRCA2):c.3328G>T (p.Glu1110Ter) rs1555283173
NM_000059.3(BRCA2):c.3336delA (p.Glu1113Asnfs) rs398122763
NM_000059.3(BRCA2):c.3376G>T (p.Glu1126Ter) rs1555283206
NM_000059.3(BRCA2):c.3385C>T (p.Gln1129Ter) rs1555283209
NM_000059.3(BRCA2):c.3401delG (p.Ser1134Thrfs) rs1555283219
NM_000059.3(BRCA2):c.3436G>T (p.Glu1146Ter) rs1237049560
NM_000059.3(BRCA2):c.3477C>A (p.Cys1159Ter) rs431825307
NM_000059.3(BRCA2):c.3481_3482dupGA (p.Asp1161Glufs) rs878853569
NM_000059.3(BRCA2):c.3545_3546delTT (p.Phe1182Terfs) rs80359388
NM_000059.3(BRCA2):c.3649delA (p.Arg1217Glyfs) rs864622134
NM_000059.3(BRCA2):c.3703C>T (p.Gln1235Ter) rs1555283366
NM_000059.3(BRCA2):c.3723delT (p.Phe1241Leufs) rs886040491
NM_000059.3(BRCA2):c.3739delA (p.Ile1247Leufs) rs886040494
NM_000059.3(BRCA2):c.3774_3775delAA (p.Ile1258Metfs) rs886038094
NM_000059.3(BRCA2):c.3779T>G (p.Leu1260Ter) rs1555283397
NM_000059.3(BRCA2):c.3779dupT (p.Leu1260Phefs) rs397507686
NM_000059.3(BRCA2):c.3859_3860delAA (p.Asn1287Terfs) rs80359406
NM_000059.3(BRCA2):c.3871C>T (p.Gln1291Ter) rs80358631
NM_000059.3(BRCA2):c.3883C>T (p.Gln1295Ter) rs879255309
NM_000059.3(BRCA2):c.3967A>T (p.Lys1323Ter) rs80358648
NM_000059.3(BRCA2):c.3968_3971delAATA (p.Lys1323Ilefs) rs886040505
NM_000059.3(BRCA2):c.3G>T (p.Met1Ile) rs80358650
NM_000059.3(BRCA2):c.4003G>T (p.Glu1335Ter) rs747070579
NM_000059.3(BRCA2):c.4007_4008insCATC (p.Asp1337Ilefs) rs878853577
NM_000059.3(BRCA2):c.4037delC (p.Thr1346Metfs) rs1162394508
NM_000059.3(BRCA2):c.4058_4062delAAACG (p.Glu1353Glyfs) rs397507322
NM_000059.3(BRCA2):c.4092_4093insAA (p.Cys1365Asnfs) rs876658329
NM_000059.3(BRCA2):c.4127_4130delGAAA (p.Gly1376Alafs) rs397507323
NM_000059.3(BRCA2):c.4218_4221delAGAA (p.Lys1406Asnfs) rs80359435
NM_000059.3(BRCA2):c.425+1G>A rs587782590
NM_000059.3(BRCA2):c.4258delG (p.Asp1420Ilefs) rs80359436
NM_000059.3(BRCA2):c.425G>A (p.Ser142Asn) rs397507713
NM_000059.3(BRCA2):c.4263dupT (p.Glu1422Terfs) rs1555283664
NM_000059.3(BRCA2):c.4284dupT (p.Gln1429Serfs) rs80359439
NM_000059.3(BRCA2):c.4376delA (p.Asn1459Thrfs) rs1555283752
NM_000059.3(BRCA2):c.4405_4409delGACAT (p.Asp1469Lysfs) rs397507331
NM_000059.3(BRCA2):c.4464_4465delCA (p.His1488Glnfs) rs397507720
NM_000059.3(BRCA2):c.4478_4481delAAAG (p.Glu1493Valfs) rs80359454
NM_000059.3(BRCA2):c.4544dup (p.Ile1516Aspfs) rs397507725
NM_000059.3(BRCA2):c.4552delG (p.Glu1518Asnfs) rs398122783
NM_000059.3(BRCA2):c.4554delA (p.Glu1518Aspfs) rs80359458
NM_000059.3(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.3(BRCA2):c.4591A>T (p.Lys1531Ter) rs1555283865
NM_000059.3(BRCA2):c.469_470delAA (p.Lys157Valfs) rs397507739
NM_000059.3(BRCA2):c.4707C>A (p.Tyr1569Ter) rs878853585
NM_000059.3(BRCA2):c.4731delA (p.Glu1577Aspfs) rs397507740
NM_000059.3(BRCA2):c.4749delT (p.Ile1583Metfs) rs1555283928
NM_000059.3(BRCA2):c.475+1G>T rs81002797
NM_000059.3(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.3(BRCA2):c.476-1G>A rs397507340
NM_000059.3(BRCA2):c.4894_4895delAG (p.Ser1632Tyrfs) rs397507748
NM_000059.3(BRCA2):c.4963delT (p.Tyr1655Thrfs) rs886040557
NM_000059.3(BRCA2):c.5035delA (p.Thr1679Leufs) rs80359477
NM_000059.3(BRCA2):c.5076delG (p.Trp1692Cysfs) rs876660524
NM_000059.3(BRCA2):c.5110_5113delAGAA (p.Arg1704Terfs) rs879254123
NM_000059.3(BRCA2):c.5159C>A (p.Ser1720Ter) rs80358740
NM_000059.3(BRCA2):c.517-2A>G rs81002858
NM_000059.3(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.3(BRCA2):c.5195delT (p.Leu1732Profs) rs587779363
NM_000059.3(BRCA2):c.5200dup (p.Glu1734Glyfs) rs1555284103
NM_000059.3(BRCA2):c.5201_5205delAAAAAinsGAAAAG (p.Glu1734Glyfs) rs483353082
NM_000059.3(BRCA2):c.5247T>G (p.Tyr1749Ter)
NM_000059.3(BRCA2):c.5270_5286del17 (p.Tyr1757Serfs) rs80359502
NM_000059.3(BRCA2):c.5362_5363delTCinsA (p.Ser1788Thrfs)
NM_000059.3(BRCA2):c.5362dupT (p.Ser1788Phefs) rs587781849
NM_000059.3(BRCA2):c.5542delA (p.Ser1848Valfs) rs80359519
NM_000059.3(BRCA2):c.5590_5591delGA (p.Asp1864Hisfs) rs886040598
NM_000059.3(BRCA2):c.5616_5620delAGTAA (p.Lys1872Asnfs) rs80359525
NM_000059.3(BRCA2):c.5631delC (p.Asn1877Lysfs) rs397507357
NM_000059.3(BRCA2):c.5653delT (p.Cys1885Alafs) rs886040602
NM_000059.3(BRCA2):c.5715dupT (p.Asn1906Terfs) rs587782901
NM_000059.3(BRCA2):c.5800C>T (p.Gln1934Ter) rs886040610
NM_000059.3(BRCA2):c.5851_5854delAGTT (p.Ser1951Trpfs) rs80359543
NM_000059.3(BRCA2):c.5855T>A (p.Leu1952Ter) rs375064902
NM_000059.3(BRCA2):c.5862_5863delTT (p.Ser1955Argfs) rs786202700
NM_000059.3(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.3(BRCA2):c.5925delT (p.Cys1975Trpfs) rs1555284465
NM_000059.3(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.3(BRCA2):c.6039delA (p.Val2014Tyrfs) rs876660637
NM_000059.3(BRCA2):c.6155dup (p.Ser2053Ilefs)
NM_000059.3(BRCA2):c.631+1G>A rs81002897
NM_000059.3(BRCA2):c.631+2T>A rs81002899
NM_000059.3(BRCA2):c.631+4A>G rs397507841
NM_000059.3(BRCA2):c.631G>C (p.Val211Leu) rs80358871
NM_000059.3(BRCA2):c.632-2A>C rs397507842
NM_000059.3(BRCA2):c.6373_6374delACinsG (p.Thr2125Alafs) rs1555284655
NM_000059.3(BRCA2):c.6393delA (p.Lys2131Asnfs) rs886038145
NM_000059.3(BRCA2):c.6474dup (p.Gln2159Serfs) rs1555284710
NM_000059.3(BRCA2):c.6502G>T (p.Gly2168Ter) rs886040660
NM_000059.3(BRCA2):c.67+1G>C rs81002796
NM_000059.3(BRCA2):c.6762delT (p.Phe2254Leufs) rs80359624
NM_000059.3(BRCA2):c.68-1G>T rs1060502376
NM_000059.3(BRCA2):c.681+1G>A rs398122565
NM_000059.3(BRCA2):c.681+4A>G rs397507884
NM_000059.3(BRCA2):c.6816_6820delAAGAG (p.Gly2274Alafs) rs587781803
NM_000059.3(BRCA2):c.682-1G>C rs81002831
NM_000059.3(BRCA2):c.6879delT (p.Phe2293Leufs) rs886040932
NM_000059.3(BRCA2):c.68_316del249 (p.Asp23_Leu105del) rs1555280328
NM_000059.3(BRCA2):c.6938-2A>G rs81002863
NM_000059.3(BRCA2):c.6944_6947delTAAA (p.Ile2315Lysfs) rs80359629
NM_000059.3(BRCA2):c.6976delT (p.Ser2326Leufs) rs886040679
NM_000059.3(BRCA2):c.6980delT (p.Leu2327Terfs) rs879255306
NM_000059.3(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.3(BRCA2):c.7008-1G>A rs786204280
NM_000059.3(BRCA2):c.7008-2A>T rs81002823
NM_000059.3(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.3(BRCA2):c.7097dupT (p.Thr2367Aspfs) rs786202600
NM_000059.3(BRCA2):c.7110dupA (p.Ser2371Ilefs) rs80359638
NM_000059.3(BRCA2):c.7147dupT (p.Tyr2383Leufs) rs878853599
NM_000059.3(BRCA2):c.718_719delCT (p.Leu240Glufs) rs1555281459
NM_000059.3(BRCA2):c.71_96del26 (p.Leu24Terfs) rs80359637
NM_000059.3(BRCA2):c.7230delT (p.Phe2410Leufs) rs1555286052
NM_000059.3(BRCA2):c.7241C>G (p.Ser2414Ter) rs80358951
NM_000059.3(BRCA2):c.7366C>T (p.Gln2456Ter) rs397507912
NM_000059.3(BRCA2):c.7414_7415delAA (p.Lys2472Valfs) rs80359650
NM_000059.3(BRCA2):c.7471delC (p.Gln2491Argfs) rs886038170
NM_000059.3(BRCA2):c.7525dup (p.Ser2509Lysfs) rs80359656
NM_000059.3(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.3(BRCA2):c.7618-2A>G rs886040940
NM_000059.3(BRCA2):c.7805+1G>A rs81002809
NM_000059.3(BRCA2):c.7806-2A>G rs81002836
NM_000059.3(BRCA2):c.7806-2A>T rs81002836
NM_000059.3(BRCA2):c.7843_7844delAT (p.Ile2615Phefs) rs886040867
NM_000059.3(BRCA2):c.7847delC (p.Ser2616Leufs) rs80359685
NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.3(BRCA2):c.793+1G>A rs81002846
NM_000059.3(BRCA2):c.7946delC (p.Pro2649Glnfs) rs863224828
NM_000059.3(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.3(BRCA2):c.7958_7959dup (p.Leu2654Phefs)
NM_000059.3(BRCA2):c.7976+2C>G rs886040943
NM_000059.3(BRCA2):c.7976+5G>A rs786201180
NM_000059.3(BRCA2):c.7977-1G>T rs81002874
NM_000059.3(BRCA2):c.7977-3_7977-2delinsAG rs1135401921
NM_000059.3(BRCA2):c.7978T>G (p.Tyr2660Asp) rs80359029
NM_000059.3(BRCA2):c.7979_7991delATGATACGGAAAT (p.Tyr2660Leufs) rs730881614
NM_000059.3(BRCA2):c.799G>T (p.Gly267Ter) rs786202796
NM_000059.3(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.3(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.3(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045
NM_000059.3(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.3(BRCA2):c.8143A>T (p.Lys2715Ter) rs863224469
NM_000059.3(BRCA2):c.8145delA (p.Val2716Trpfs) rs1135401923
NM_000059.3(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.3(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.3(BRCA2):c.81_83delAAGinsTAAGACT (p.Ser28Lysfs) rs879255300
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.8331+1G>A rs81002837
NM_000059.3(BRCA2):c.8331+2T>C rs398122602
NM_000059.3(BRCA2):c.8332-1G>T rs397507979
NM_000059.3(BRCA2):c.8332-2A>G rs587782774
NM_000059.3(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082
NM_000059.3(BRCA2):c.8470A>T (p.Arg2824Ter) rs886040778
NM_000059.3(BRCA2):c.8478C>A (p.Tyr2826Ter) rs776353983
NM_000059.3(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8501delC (p.Thr2834Asnfs) rs80359712
NM_000059.3(BRCA2):c.8533dup (p.Arg2845Lysfs) rs397507990
NM_000059.3(BRCA2):c.8632+1G>A rs397507997
NM_000059.3(BRCA2):c.8632+1G>T rs397507997
NM_000059.3(BRCA2):c.8633-1G>A rs398122711
NM_000059.3(BRCA2):c.8633-24_8634del rs886040945
NM_000059.3(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000059.3(BRCA2):c.8724delG (p.Lys2909Argfs) rs1555288172
NM_000059.3(BRCA2):c.8754+1G>T rs397508006
NM_000059.3(BRCA2):c.8754+3G>C rs397508007
NM_000059.3(BRCA2):c.8754+4A>G rs81002893
NM_000059.3(BRCA2):c.8754+5G>A rs81002813
NM_000059.3(BRCA2):c.8754G>A (p.Glu2918=) rs80359803
NM_000059.3(BRCA2):c.8755-1G>A rs81002812
NM_000059.3(BRCA2):c.880G>T (p.Glu294Ter) rs397508009
NM_000059.3(BRCA2):c.889G>T (p.Glu297Ter) rs879255298
NM_000059.3(BRCA2):c.8924delT (p.Val2975Glufs) rs397508020
NM_000059.3(BRCA2):c.8948_8953+5delATTCAGGTAAG rs276174915
NM_000059.3(BRCA2):c.8953+1G>A rs81002882
NM_000059.3(BRCA2):c.8954-5A>G rs886040949
NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.3(BRCA2):c.9041C>G (p.Ser3014Ter) rs80359156
NM_000059.3(BRCA2):c.9148C>T (p.Gln3050Ter) rs80359170
NM_000059.3(BRCA2):c.9235delG (p.Val3079Phefs) rs397507422
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.3(BRCA2):c.9256+1G>A rs81002883
NM_000059.3(BRCA2):c.9256_9256+1delGGinsTA rs587781422
NM_000059.3(BRCA2):c.9257-1G>C rs81002889
NM_000059.3(BRCA2):c.9257-2A>G rs886040954
NM_000059.3(BRCA2):c.9281C>G (p.Ser3094Ter) rs786204283
NM_000059.3(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.3(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.3(BRCA2):c.9501+1G>A rs397508058
NM_000059.3(BRCA2):c.9501+1G>T rs397508058
NM_000059.3(BRCA2):c.9502-2A>C rs81002868
NM_000059.3(BRCA2):c.9513_9516delACTT (p.Leu3172Alafs) rs80359769
NM_000059.3(BRCA2):c.9588delA (p.Asp3197Thrfs) rs876661285
NM_000059.3(BRCA2):c.9599C>G (p.Ser3200Ter) rs80359230
NM_000059.3(BRCA2):c.9633dupA (p.Gly3212Argfs) rs1555289805
NM_000059.3(BRCA2):c.9676delT (p.Tyr3226Ilefs) rs80359774
NM_000059.3(BRCA2):c.9699_9702delTATG (p.Cys3233Trpfs) rs80359775
NM_000059.3(BRCA2):c.9748dup (p.Ser3250Phefs) rs886040850
NM_000059.3(BRCA2):c.9789_9790del (p.Asn3264Leufs) rs886040851
NM_000059.3(BRCA2):c.9808delG (p.Ala3270Profs) rs398122622
NM_000059.3(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000059.3:c.6884_6888del
NM_000060.2(BTD):c.933delT (p.Ser311Argfs) rs397514395
NM_000060.4(BTD):c.1241_1252delATCTCCACGTCT (p.Tyr414_Val417del) rs397514404
NM_000060.4(BTD):c.1459del (p.Trp487Glyfs) rs397514423
NM_000061.2(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.2(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.2(BTK):c.472_475delACAG (p.Thr158Profs) rs193922128
NM_000061.2(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000062.2(SERPING1):c.1353_1354delGA (p.Glu451Aspfs) rs1554996833
NM_000062.2(SERPING1):c.550G>A (p.Gly184Arg) rs281875170
NM_000069.2(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231
NM_000070.2(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493
NM_000070.2(CAPN3):c.1194-9A>G rs374665929
NM_000070.2(CAPN3):c.1250C>T (p.Thr417Met) rs200646556
NM_000070.2(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792
NM_000070.2(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913
NM_000070.2(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.2(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.2(CAPN3):c.133G>A (p.Ala45Thr) rs774048743
NM_000070.2(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976
NM_000070.2(CAPN3):c.1343G>A (p.Arg448His) rs863224956
NM_000070.2(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359
NM_000070.2(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037
NM_000070.2(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.2(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579
NM_000070.2(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.2(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548
NM_000070.2(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.2(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.2(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143
NM_000070.2(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544
NM_000070.2(CAPN3):c.1743_1744delTG (p.Glu582Glyfs) rs886042573
NM_000070.2(CAPN3):c.1801-1G>A rs886043752
NM_000070.2(CAPN3):c.1993-1G>A rs369552114
NM_000070.2(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491
NM_000070.2(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.2(CAPN3):c.2185-2A>G rs886041335
NM_000070.2(CAPN3):c.2207_2208delCA (p.Thr736Argfs) rs587780289
NM_000070.2(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000070.2(CAPN3):c.2263+1G>A rs886044475
NM_000070.2(CAPN3):c.2279dupA (p.Asn760Lysfs) rs775130589
NM_000070.2(CAPN3):c.2288A>G (p.Tyr763Cys) rs764459544
NM_000070.2(CAPN3):c.2290delG (p.Asp764Thrfs) rs886044527
NM_000070.2(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.2(CAPN3):c.2381-2A>G rs863224962
NM_000070.2(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128
NM_000070.2(CAPN3):c.2440-1G>A rs886044052
NM_000070.2(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000070.2(CAPN3):c.327_328dupCC (p.Arg110Profs) rs797045427
NM_000070.2(CAPN3):c.402delC (p.Ile135Leufs) rs746935735
NM_000070.2(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
NM_000070.2(CAPN3):c.580delT (p.Ser194Profs) rs398123149
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.2(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.2(CAPN3):c.717delT (p.Phe239Leufs) rs776059672
NM_000070.2(CAPN3):c.741_751del11 (p.Met248Hisfs) rs1555420647
NM_000070.2(CAPN3):c.802-9G>A rs761211705
NM_000070.2(CAPN3):c.865C>T (p.Arg289Trp) rs528417986
NM_000070.2(CAPN3):c.946-4_946-1delACAG rs766156798
NM_000070.2(CAPN3):c.956C>T (p.Pro319Leu) rs121434547
NM_000070.3(CAPN3):c.549delA (p.Thr184Argfs) rs80338800
NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) rs771298943
NM_000071.2(CBS):c.1058C>T (p.Thr353Met) rs121964972
NM_000071.2(CBS):c.1111G>A (p.Val371Met) rs372010465
NM_000071.2(CBS):c.1135C>T (p.Arg379Trp) rs769080151
NM_000071.2(CBS):c.1136G>A (p.Arg379Gln) rs763036586
NM_000071.2(CBS):c.1218delG (p.Lys406Asnfs) rs794727083
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.28delG (p.Val10Trpfs) rs779250698
NM_000071.2(CBS):c.302T>C (p.Leu101Pro) rs786204757
NM_000071.2(CBS):c.325T>C (p.Cys109Arg) rs778220779
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000071.2(CBS):c.361C>T (p.Arg121Cys) rs775992753
NM_000071.2(CBS):c.374G>A (p.Arg125Gln) rs781444670
NM_000071.2(CBS):c.430G>A (p.Glu144Lys) rs121964966
NM_000071.2(CBS):c.667-14_667-7del8 rs764160782
NM_000071.2(CBS):c.689delT (p.Leu230Argfs) rs775351239
NM_000071.2(CBS):c.737-1G>C rs757428597
NM_000071.2(CBS):c.738delG (p.Lys247Serfs) rs766453711
NM_000071.2(CBS):c.770C>T (p.Thr257Met) rs758236584
NM_000071.2(CBS):c.785C>T (p.Thr262Met) rs149119723
NM_000071.2(CBS):c.797G>A (p.Arg266Lys) rs121964969
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000071.2(CBS):c.992C>A (p.Ala331Glu) rs777919630
NM_000074.2(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000074.2(CD40LG):c.418T>G (p.Trp140Gly) rs104894777
NM_000075.3(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000076.2(CDKN1C):c.845C>G (p.Ser282Ter) rs267606716
NM_000077.4(CDKN2A):c.167G>T (p.Ser56Ile) rs104894109
NM_000077.4(CDKN2A):c.172C>T (p.Arg58Ter) rs121913387
NM_000077.4(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.4(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.4(CDKN2A):c.329G>A (p.Trp110Ter) rs1057519852
NM_000077.4(CDKN2A):c.334C>G (p.Arg112Gly) rs876660436
NM_000077.4(CDKN2A):c.335_337dupGTC (p.Arg112_Leu113insArg) rs768966657
NM_000077.4(CDKN2A):c.457G>T (p.Asp153Tyr) rs45476696
NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097
NM_000077.4(CDKN2A):c.95T>C (p.Leu32Pro) rs878853650
NM_000079.3(CHRNA1):c.1321G>A (p.Gly441Arg) rs768407867
NM_000079.3(CHRNA1):c.805G>T (p.Val269Phe) rs137852803
NM_000080.3(CHRNE):c.103T>C (p.Tyr35His) rs144169073
NM_000080.3(CHRNE):c.422C>T (p.Pro141Leu) rs121909512
NM_000080.3(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000080.3(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000080.3(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000080.4(CHRNE):c.183_187dup (p.Leu63Profs) rs776927709
NM_000081.3(LYST):c.3310C>T (p.Arg1104Ter) rs80338652
NM_000082.3(ERCC8):c.1042-1G>A rs897535441
NM_000082.3(ERCC8):c.1042-2A>G rs372237310
NM_000082.3(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.647_651dupTGAGA (p.Arg218Terfs) rs1554073177
NM_000083.2(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559
NM_000083.2(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703
NM_000083.2(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881
NM_000083.2(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212
NM_000083.2(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.2(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.2(CLCN1):c.2831dupC (p.Gly945Argfs) rs755176513
NM_000083.2(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.2(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.2(CLCN1):c.568_569delGGinsTC (p.Gly190Ser) rs797045032
NM_000083.2(CLCN1):c.592C>G (p.Leu198Val) rs80356685
NM_000083.2(CLCN1):c.774+1G>A rs776073429
NM_000083.2(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.2(CLCN1):c.892G>A (p.Ala298Thr) rs764100025
NM_000083.2(CLCN1):c.920T>C (p.Phe307Ser) rs80356701
NM_000083.2(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000084.4(CLCN5):c.731C>T (p.Ser244Leu) rs151340626
NM_000087.3(CNGA1):c.959C>T rs62625014
NM_000088.3(COL1A1):c.1862_1865delCCCC (p.Pro621Leufs) rs72651620
NM_000088.3(COL1A1):c.2161C>T (p.Gln721Ter) rs193922145
NM_000088.3(COL1A1):c.2450delC (p.Pro817Leufs) rs193922149
NM_000088.3(COL1A1):c.2685delT (p.Gly896Alafs) rs193922151
NM_000088.3(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000088.3(COL1A1):c.579delT (p.Gly194Valfs) rs72667023
NM_000088.3(COL1A1):c.671G>T (p.Gly224Val) rs1555574641
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000089.3(COL1A2):c.226-2A>G rs72656355
NM_000089.3(COL1A2):c.2260G>T (p.Gly754Cys) rs72658177
NM_000089.3(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.3(COL1A2):c.432+1G>A rs1554395431
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
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.1744G>A (p.Gly582Ser) rs121912923
NM_000090.3(COL3A1):c.1761+5G>A (p.Gly555_Asp587del) rs397509372
NM_000090.3(COL3A1):c.1988G>T (p.Gly663Val) rs587779454
NM_000090.3(COL3A1):c.2123G>T (p.Gly708Val) rs111929073
NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser) rs587779723
NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.3(COL3A1):c.3112G>C (p.Gly1038Arg)
NM_000090.3(COL3A1):c.3202-2A>G (p.Gly1068_Pro1085del) rs587779682
NM_000090.3(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_000090.3(COL3A1):c.3319G>A (p.Gly1107Arg) rs587779561
NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp) rs587779639
NM_000090.3(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
NM_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp) rs587779588
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp) rs587779673
NM_000091.4(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239
NM_000091.4(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654
NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.4(COL4A3):c.2954G>T (p.Gly985Val) rs121912827
NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183_Asn1184insGly) rs1175052474
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.4(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000092.4(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235
NM_000092.4(COL4A4):c.2279dup (p.Asp761Argfs) rs1553643669
NM_000092.4(COL4A4):c.2420delG (p.Gly807Valfs) rs786205640
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985
NM_000092.4(COL4A4):c.594+1G>A rs1553690565
NM_000094.3(COL7A1):c.1637-1G>A rs886058642
NM_000094.3(COL7A1):c.3942dupG (p.Asn1315Glufs) rs747912732
NM_000094.3(COL7A1):c.5605G>C (p.Gly1869Arg) rs1057517724
NM_000094.3(COL7A1):c.5820G>A (p.Pro1940=) rs200972872
NM_000094.3(COL7A1):c.682+1G>A rs775288140
NM_000095.2(COMP):c.1760A>G (p.His587Arg) rs312262901
NM_000097.5(CPOX):c.1210A>G (p.Lys404Glu) rs121917868
NM_000098.2(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295
NM_000098.2(CPT2):c.1369A>T (p.Lys457Ter) rs756931329
NM_000098.2(CPT2):c.1507C>T (p.Arg503Cys) rs74315296
NM_000098.2(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000098.2(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000098.2(CPT2):c.359A>G (p.Tyr120Cys) rs121918528
NM_000098.2(CPT2):c.370C>T (p.Arg124Ter) rs201065226
NM_000098.2(CPT2):c.452G>A (p.Arg151Gln) rs515726177
NM_000098.2(CPT2):c.520G>A (p.Glu174Lys) rs28936674
NM_000098.2(CPT2):c.680C>T (p.Pro227Leu) rs74315298
NM_000098.2(CPT2):c.886C>T (p.Arg296Ter) rs727503887
NM_000100.3(CSTB):c.125C>A (p.Ser42Ter) rs386833439
NM_000100.3(CSTB):c.168G>A (p.Lys56=) rs386833440
NM_000100.3(CSTB):c.169-2A>G rs386833441
NM_000100.3(CSTB):c.218_219delTC (p.Leu73Profs) rs796943858
NM_000100.3(CSTB):c.66G>A (p.Gln22=) rs386833443
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000108.3(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.4(DLD):c.104dupA (p.Tyr35Terfs) rs753234219
NM_000109.3(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000109.3(DMD):c.8367-2A>G rs1556665303
NM_000110.3(DPYD):c.1679T>G (p.Ile560Ser) rs55886062
NM_000110.3(DPYD):c.208C>T (p.Arg70Ter) rs141597515
NM_000110.3(DPYD):c.2275C>T (p.Arg759Ter) rs759372918
NM_000110.3(DPYD):c.661G>T (p.Glu221Ter) rs146170505
NM_000111.2(SLC26A3):c.2024_2026dupTCA (p.Ile675_Arg676insIle) rs121913031
NM_000112.3(SLC26A2):c.1020_1022delTGT (p.Val341del) rs121908077
NM_000112.3(SLC26A2):c.1724delA (p.Lys575Serfs) rs386833498
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val) rs104893916
NM_000112.3(SLC26A2):c.391delC (p.Leu131Cysfs) rs786200881
NM_000113.2(TOR1A):c.907_909delGAG (p.Glu303del) rs80358233
NM_000117.2(EMD):c.60delC (p.Asn20Lysfs) rs886041854
NM_000118.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_000118.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_000118.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000123.3(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000124.2(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037
NM_000124.3(ERCC6):c.1518delG (p.Lys506Asnfs) rs786205168
NM_000124.3(ERCC6):c.1526+1G>T rs371739894
NM_000124.3(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904
NM_000124.3(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354
NM_000124.3(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254
NM_000124.3(ERCC6):c.3412dupA (p.Thr1138Asnfs) rs786205170
NM_000124.3(ERCC6):c.3536delA (p.Tyr1179Leufs) rs786205171
NM_000124.3(ERCC6):c.466C>T (p.Gln156Ter) rs751838040
NM_000124.3(ERCC6):c.643G>T (p.Glu215Ter) rs875989810
NM_000125.3(ESR1):c.1181G>A (p.Arg394His) rs1131692059
NM_000126.3(ETFA):c.2T>C (p.Met1Thr) rs727503918
NM_000128.3(F11):c.1107C>A (p.Tyr369Ter) rs773905328
NM_000128.3(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.3(F11):c.1247G>A (p.Cys416Tyr) rs779802284
NM_000128.3(F11):c.1253G>T (p.Gly418Val) rs121965071
NM_000128.3(F11):c.1432G>A (p.Gly478Arg) rs542967227
NM_000128.3(F11):c.1556G>A (p.Trp519Ter) rs201007090
NM_000128.3(F11):c.166T>C (p.Cys56Arg) rs121965069
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.67C>T (p.Gln23Ter) rs768409400
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064
NM_000131.4(F7):c.1109G>T (p.Cys370Phe) rs121964927
NM_000132.3(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.3(F8):c.1660A>G (p.Ser554Gly) rs137852419
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000133.3(F9):c.224G>A (p.Arg75Gln) rs137852228
NM_000135.2(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.2(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.2(FANCA):c.3066+1G>T rs587783028
NM_000135.2(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.2(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.2(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.2(FANCA):c.709+5G>A rs759877008
NM_000135.3(FANCA):c.1226-2A>G rs773906241
NM_000135.3(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.3(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.3(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.3(FANCA):c.2839dup (p.Ser947Phefs) rs756367276
NM_000135.3(FANCA):c.2852G>A (p.Arg951Gln) rs755922289
NM_000135.3(FANCA):c.4261-2A>C rs915983602
NM_000135.3(FANCA):c.916_917delAC (p.Thr306Alafs) rs764122657
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179
NM_000136.2(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.2(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.2(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.2(FANCC):c.1387_1388delTC (p.Ala464Profs) rs730881710
NM_000136.2(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.2(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.2(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.2(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
NM_000136.2(FANCC):c.355_360delTCTCATinsA (p.Ser119Asnfs) rs587779904
NM_000136.2(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.2(FANCC):c.455dupA (p.Asn152Lysfs) rs774170058
NM_000136.2(FANCC):c.487_490delGAGA (p.Glu163Ilefs) rs730881708
NM_000136.2(FANCC):c.520C>T (p.Arg174Ter) rs781542763
NM_000136.2(FANCC):c.535C>T (p.Arg179Ter) rs769039987
NM_000136.2(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000136.2(FANCC):c.844-1G>C rs774209201
NM_000136.2(FANCC):c.896+2T>G rs863224441
NM_000137.2(FAH):c.1009G>A (p.Gly337Ser) rs80338900
NM_000137.2(FAH):c.1027G>T (p.Gly343Trp)
NM_000137.2(FAH):c.1069G>T (p.Glu357Ter) rs121965075
NM_000137.2(FAH):c.401C>A (p.Ala134Asp) rs121965074
NM_000137.2(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.2(FAH):c.520C>T (p.Arg174Ter) rs781496816
NM_000137.2(FAH):c.782C>T (p.Pro261Leu) rs80338898
NM_000138.4(FBN1):c.1148-2A>G rs397515756
NM_000138.4(FBN1):c.1156_1167delAACAAGCTGTGC (p.Asn386_Cys389del) rs672601352
NM_000138.4(FBN1):c.1211delC (p.Pro404Hisfs) rs112289537
NM_000138.4(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.4(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.1496G>A (p.Cys499Tyr) rs587782944
NM_000138.4(FBN1):c.1570dup (p.Thr524Asnfs) rs1555400274
NM_000138.4(FBN1):c.1571delC (p.Thr524Serfs) rs886038817
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.4(FBN1):c.1670G>A (p.Cys557Tyr) rs1057521102
NM_000138.4(FBN1):c.1726T>G (p.Cys576Gly) rs794728174
NM_000138.4(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.4(FBN1):c.185G>A (p.Arg62His) rs145942328
NM_000138.4(FBN1):c.1879C>T (p.Arg627Cys) rs727503057
NM_000138.4(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.4(FBN1):c.1A>C (p.Met1Leu) rs730880097
NM_000138.4(FBN1):c.2051G>T (p.Cys684Phe) rs1555399763
NM_000138.4(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.4(FBN1):c.2080G>T (p.Glu694Ter) rs1060501024
NM_000138.4(FBN1):c.2216G>A (p.Cys739Tyr) rs1555399378
NM_000138.4(FBN1):c.2243G>A (p.Cys748Tyr) rs1064794282
NM_000138.4(FBN1):c.2261A>G (p.Tyr754Cys) rs137854479
NM_000138.4(FBN1):c.2306G>A (p.Cys769Tyr) rs794728190
NM_000138.4(FBN1):c.2489G>C (p.Cys830Ser) rs397515774
NM_000138.4(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.4(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.4(FBN1):c.2669G>A (p.Cys890Tyr) rs1555399144
NM_000138.4(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.4(FBN1):c.2682delC (p.Ile895Tyrfs) rs193922194
NM_000138.4(FBN1):c.2722T>C (p.Cys908Arg) rs1060501021
NM_000138.4(FBN1):c.2728+1G>C rs794728322
NM_000138.4(FBN1):c.2858delT (p.Ile953Thrfs) rs1555398836
NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys) rs397514558
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.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.4(FBN1):c.3193delG (p.Glu1065Lysfs) rs193922198
NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.4(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.4(FBN1):c.3344A>G (p.Asp1115Gly) rs794728203
NM_000138.4(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.4(FBN1):c.3379G>A (p.Gly1127Ser) rs137854468
NM_000138.4(FBN1):c.3412T>C (p.Cys1138Arg) rs1131691806
NM_000138.4(FBN1):c.3463G>A (p.Asp1155Asn) rs794728204
NM_000138.4(FBN1):c.347-2A>G rs1555405056
NM_000138.4(FBN1):c.3513C>G (p.Cys1171Trp) rs775417975
NM_000138.4(FBN1):c.3623G>T (p.Cys1208Phe) rs1555398406
NM_000138.4(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.4(FBN1):c.3725G>A (p.Cys1242Tyr) rs137854471
NM_000138.4(FBN1):c.3974A>C (p.Glu1325Ala) rs794728331
NM_000138.4(FBN1):c.3G>A (p.Met1Ile) rs886039072
NM_000138.4(FBN1):c.400T>C (p.Cys134Arg) rs1555405044
NM_000138.4(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.4(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
NM_000138.4(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
NM_000138.4(FBN1):c.406T>G (p.Cys136Gly) rs1555405041
NM_000138.4(FBN1):c.4082G>A (p.Cys1361Tyr) rs1555397704
NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.4(FBN1):c.4210+1G>A rs730880106
NM_000138.4(FBN1):c.4222T>C (p.Cys1408Arg) rs397515802
NM_000138.4(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.4(FBN1):c.4259G>T (p.Cys1420Phe) rs397515804
NM_000138.4(FBN1):c.4293C>G (p.Cys1431Trp) rs112375043
NM_000138.4(FBN1):c.4337-1G>T rs1555397424
NM_000138.4(FBN1):c.4337-2A>G rs794728216
NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.4(FBN1):c.441delA (p.Gln147Hisfs) rs1555405028
NM_000138.4(FBN1):c.4453T>C (p.Cys1485Arg) rs730880101
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.4505G>A (p.Cys1502Tyr) rs397515810
NM_000138.4(FBN1):c.4539C>G (p.Cys1513Trp) rs1555397203
NM_000138.4(FBN1):c.4562delC (p.Pro1521Glnfs) rs886039035
NM_000138.4(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.4(FBN1):c.4781G>A (p.Gly1594Asp) rs267606798
NM_000138.4(FBN1):c.4816+1G>T rs1555397014
NM_000138.4(FBN1):c.4898G>A (p.Cys1633Tyr) rs1555396993
NM_000138.4(FBN1):c.4937G>A (p.Cys1646Tyr) rs397515814
NM_000138.4(FBN1):c.4943-1G>A rs1555396863
NM_000138.4(FBN1):c.4955G>A (p.Cys1652Tyr) rs397515817
NM_000138.4(FBN1):c.503G>T (p.Cys168Phe) rs1555404803
NM_000138.4(FBN1):c.5065+1G>C rs1296209846
NM_000138.4(FBN1):c.510C>G (p.Tyr170Ter) rs111671429
NM_000138.4(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.4(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.4(FBN1):c.5330G>A (p.Cys1777Tyr) rs1060501069
NM_000138.4(FBN1):c.5371T>C (p.Cys1791Arg) rs1555396427
NM_000138.4(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.4(FBN1):c.5504G>A (p.Cys1835Tyr) rs111929350
NM_000138.4(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.4(FBN1):c.5699G>A (p.Cys1900Tyr) rs794728237
NM_000138.4(FBN1):c.5788+5G>A rs193922219
NM_000138.4(FBN1):c.5930G>A (p.Cys1977Tyr) rs1555395663
NM_000138.4(FBN1):c.5993G>A (p.Cys1998Tyr) rs1085307531
NM_000138.4(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.4(FBN1):c.6164-2A>G rs794728244
NM_000138.4(FBN1):c.6244G>T (p.Glu2082Ter) rs1052480459
NM_000138.4(FBN1):c.6313+2T>C rs1555395257
NM_000138.4(FBN1):c.6354C>T (p.Ile2118=) rs112989722
NM_000138.4(FBN1):c.6379+1G>A rs397515833
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6425G>A (p.Cys2142Tyr) rs794728335
NM_000138.4(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.4(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.4(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.4(FBN1):c.6645delG (p.Leu2216Serfs) rs1555394928
NM_000138.4(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.4(FBN1):c.6772T>C (p.Cys2258Arg) rs1057520617
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.4(FBN1):c.6904T>A (p.Cys2302Ser) rs886039092
NM_000138.4(FBN1):c.6953G>A (p.Cys2318Tyr) rs1555394626
NM_000138.4(FBN1):c.7039_7040delAT (p.Met2347Valfs) rs794728319
NM_000138.4(FBN1):c.7112G>A (p.Trp2371Ter) rs1555394567
NM_000138.4(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.4(FBN1):c.7151_7152delTG (p.Val2384Glyfs) rs869025423
NM_000138.4(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.4(FBN1):c.7205-1G>A rs794728266
NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464
NM_000138.4(FBN1):c.7410C>G (p.Cys2470Trp) rs1555394397
NM_000138.4(FBN1):c.7531T>C (p.Cys2511Arg) rs794728272
NM_000138.4(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.4(FBN1):c.762delC (p.Leu256Serfs) rs1064793559
NM_000138.4(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.4(FBN1):c.7708G>A (p.Glu2570Lys) rs886038786
NM_000138.4(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
NM_000138.4(FBN1):c.7819+1G>A rs112907302
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.4(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.4(FBN1):c.8226+1G>A rs398122833
NM_000138.4(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
NM_000138.4(FBN1):c.8521G>T (p.Glu2841Ter) rs587782948
NM_000138.4(FBN1):c.871G>T (p.Glu291Ter) rs1232880706
NM_000141.4(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.4(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.4(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_000141.4(FGFR2):c.1115C>G (p.Ser372Cys) rs121913477
NM_000141.4(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.4(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.4(FGFR2):c.1922A>G (p.Lys641Arg) rs1057519047
NM_000141.4(FGFR2):c.755_756delCGinsTT (p.Ser252Phe) rs121918498
NM_000141.4(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.4(FGFR2):c.826T>G (p.Phe276Val) rs1057519036
NM_000141.4(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.4(FGFR3):c.1111A>T (p.Ser371Cys) rs121913484
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.4(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.4(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000142.4(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000143.3(FH):c.1020T>A (p.Asn340Lys) rs398123159
NM_000143.3(FH):c.1067T>A (p.Leu356Ter) rs727503927
NM_000143.3(FH):c.1093A>G (p.Ser365Gly) rs863223966
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.3(FH):c.1255T>C (p.Ser419Pro) rs200004220
NM_000143.3(FH):c.1301G>A (p.Cys434Tyr) rs398123164
NM_000143.3(FH):c.1391-2A>T rs863224008
NM_000143.3(FH):c.1431_1433dupAAA (p.Lys477_Asn478insLys) rs367543046
NM_000143.3(FH):c.1445T>G (p.Leu482Ter) rs1064796708
NM_000143.3(FH):c.1500G>A (p.Trp500Ter) rs886039368
NM_000143.3(FH):c.302G>C (p.Arg101Pro) rs75086406
NM_000143.3(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000143.3(FH):c.689A>G (p.Lys230Arg) rs752232718
NM_000143.3(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000143.3(FH):c.786_806del21 (p.Lys263_Ile269del) rs786202220
NM_000143.3(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000145.3(FSHR):c.1760C>A (p.Pro587His) rs386833512
NM_000145.3(FSHR):c.479T>C (p.Ile160Thr) rs121909659
NM_000151.3(G6PC):c.150_151delGT (p.Trp50Cysfs) rs1057516674
NM_000151.3(G6PC):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.3(G6PC):c.328G>A (p.Glu110Lys) rs104894567
NM_000151.3(G6PC):c.379_380dupTA (p.Tyr128Thrfs) rs80356488
NM_000151.3(G6PC):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.3(G6PC):c.648G>T (p.Leu216=) rs80356484
NM_000151.3(G6PC):c.724C>T (p.Gln242Ter) rs80356485
NM_000151.3(G6PC):c.809G>T (p.Gly270Val) rs80356483
NM_000151.3(G6PC):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.3(G6PC):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.3(G6PC):c.980_982delTCT (p.Phe327del) rs80356486
NM_000152.3(GAA):c.1441T>C (p.Trp481Arg) rs772883420
NM_000152.3(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.3(GAA):c.1552-3C>G rs375470378
NM_000152.3(GAA):c.1843G>A (p.Gly615Arg) rs549029029
NM_000152.3(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.3(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.3(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.3(GAA):c.2014C>T (p.Arg672Trp) rs757111744
NM_000152.3(GAA):c.2015G>A (p.Arg672Gln) rs778418246
NM_000152.3(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.3(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.3(GAA):c.2501_2502delCA (p.Thr834Argfs) rs886043343
NM_000152.3(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.3(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.3(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.3(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.3(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.3(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000152.3(GAA):c.784G>A (p.Glu262Lys) rs201896815
NM_000152.3(GAA):c.875A>G (p.Tyr292Cys) rs1057516600
NM_000152.3(GAA):c.925G>A (p.Gly309Arg) rs543300039
NM_000152.3(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000152.4(GAA):c.1051delG (p.Val351Cysfs) rs786204507
NM_000152.4(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.4(GAA):c.1128_1129delGGinsC (p.Trp376Cysfs) rs786204646
NM_000152.4(GAA):c.1143delC (p.Ala382Leufs) rs757458607
NM_000152.4(GAA):c.1193delT (p.Leu398Argfs) rs1057517286
NM_000152.4(GAA):c.1438-1G>C rs147804176
NM_000152.4(GAA):c.1438-2A>G rs1555600730
NM_000152.4(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.4(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.4(GAA):c.1561G>A (p.Glu521Lys) rs121907937
NM_000152.4(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.4(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.4(GAA):c.1799G>A (p.Arg600His) rs377544304
NM_000152.4(GAA):c.1827delC (p.Tyr609Terfs) rs781088002
NM_000152.4(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.4(GAA):c.1941C>G (p.Cys647Trp) rs776948121
NM_000152.4(GAA):c.1942G>A (p.Gly648Ser) rs536906561
NM_000152.4(GAA):c.2140delC (p.His714Thrfs) rs786204549
NM_000152.4(GAA):c.2173C>T (p.Arg725Trp) rs121907938
NM_000152.4(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.4(GAA):c.2242dup (p.Glu748Glyfs) rs777275355
NM_000152.4(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000152.4(GAA):c.736delC (p.Leu246Phefs) rs886043920
NM_000152.4(GAA):c.766_785del20insC (p.Tyr256Argfs) rs786204532
NM_000152.5(GAA):c.1826dup (p.Tyr609Terfs) rs786204727
NM_000153.3(GALC):c.1186C>T (p.Arg396Trp) rs770485731
NM_000153.3(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.3(GALC):c.1592G>A (p.Arg531His) rs200378205
NM_000153.3(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.3(GALC):c.1890T>A (p.Tyr630Ter) rs1057516453
NM_000153.3(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000153.3(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs) rs886043419
NM_000153.3(GALC):c.433dup (p.Thr145Asnfs) rs1555383679
NM_000153.3(GALC):c.599C>A (p.Ser200Ter) rs786204618
NM_000153.3(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.3(GALC):c.850G>A (p.Gly284Ser) rs377274761
NM_000153.3(GALC):c.857G>A (p.Gly286Asp) rs199847983
NM_000153.3(GALC):c.908C>T (p.Ser303Phe) rs756352952
NM_000153.3(GALC):c.955delT (p.Tyr319Metfs) rs786204454
NM_000155.3(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.3(GALT):c.1052delC (p.Pro351Leufs) rs111033813
NM_000155.3(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.3(GALT):c.1060-1G>A rs367543268
NM_000155.3(GALT):c.1140A>C (p.Ter380Cys) rs111033827
NM_000155.3(GALT):c.18delC (p.Asp7Ilefs) rs111033638
NM_000155.3(GALT):c.238C>T (p.Arg80Ter) rs111033664
NM_000155.3(GALT):c.25C>T (p.Gln9Ter) rs111033848
NM_000155.3(GALT):c.292G>A (p.Asp98Asn) rs111033670
NM_000155.3(GALT):c.307C>T (p.Gln103Ter) rs1225091358
NM_000155.3(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.3(GALT):c.396C>A (p.His132Gln) rs367543256
NM_000155.3(GALT):c.404C>G (p.Ser135Trp) rs111033690
NM_000155.3(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.3(GALT):c.413C>T (p.Thr138Met) rs111033686
NM_000155.3(GALT):c.41delCinsTT (p.Ala14Valfs) rs111033634
NM_000155.3(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.3(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.3(GALT):c.508-1G>C rs398123181
NM_000155.3(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.3(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.3(GALT):c.564+1G>A rs111033723
NM_000155.3(GALT):c.565-2A>G rs111033731
NM_000155.3(GALT):c.598delC (p.Gln200Serfs) rs111033738
NM_000155.3(GALT):c.602G>A (p.Arg201His) rs111033735
NM_000155.3(GALT):c.610C>T (p.Arg204Ter) rs111033737
NM_000155.3(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.3(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.3(GALT):c.634C>T (p.Gln212Ter) rs111033746
NM_000155.3(GALT):c.652delC (p.Leu218Terfs) rs111033742
NM_000155.3(GALT):c.688-2A>C rs398123185
NM_000155.3(GALT):c.691C>T (p.Arg231Cys) rs111033749
NM_000155.3(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.3(GALT):c.775C>T (p.Arg259Trp) rs786204763
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.3(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.3(GALT):c.820+13A>G rs111033768
NM_000155.3(GALT):c.844C>G (p.Leu282Val) rs111033772
NM_000155.3(GALT):c.938G>A (p.Trp313Ter) rs1410159094
NM_000155.3(GALT):c.947G>A (p.Trp316Ter) rs111033790
NM_000155.3(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.3(GALT):c.958G>A (p.Ala320Thr) rs111033795
NM_000155.3(GALT):c.974C>T (p.Pro325Leu) rs111033794
NM_000155.3(GALT):c.983G>A (p.Arg328His) rs111033802
NM_000155.3(GALT):c.98G>A (p.Arg33His) rs111033829
NM_000155.3(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000155.3(GALT):c.998G>A (p.Arg333Gln) rs111033808
NM_000156.5(GAMT):c.503A>C (p.Tyr168Ser) rs1131691644
NM_000157.3(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.3(GBA):c.1448T>C rs421016
NM_000158.3(GBE1):c.1544G>A (p.Arg515His) rs201958741
NM_000158.3(GBE1):c.671T>C (p.Leu224Pro) rs137852886
NM_000158.3(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000159.2(GCDH):c.226C>T (p.Gln76Ter) rs898043081
NM_000159.2(GCDH):c.892G>A (p.Ala298Thr) rs761765983
NM_000159.2(GCDH):c.937C>T (p.Arg313Trp) rs779315456
NM_000159.3(GCDH):c.1093G>A (p.Glu365Lys) rs121434370
NM_000159.3(GCDH):c.1173delG (p.Asn392Metfs) rs754002357
NM_000159.3(GCDH):c.1198G>A (p.Val400Met) rs121434372
NM_000159.3(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000159.3(GCDH):c.262C>T (p.Arg88Cys) rs142967670
NM_000159.3(GCDH):c.271+1G>A rs786204639
NM_000159.3(GCDH):c.356C>T (p.Ser119Leu) rs886043840
NM_000159.3(GCDH):c.395G>A (p.Arg132Gln) rs200639270
NM_000159.3(GCDH):c.482G>A (p.Arg161Gln) rs777201305
NM_000159.3(GCDH):c.532G>A (p.Gly178Arg) rs749452002
NM_000159.3(GCDH):c.572T>C (p.Met191Thr) rs149120354
NM_000159.3(GCDH):c.636-1G>A rs398123195
NM_000159.3(GCDH):c.675G>A (p.Trp225Ter) rs786205862
NM_000159.3(GCDH):c.680G>C (p.Arg227Pro) rs121434373
NM_000159.3(GCDH):c.769C>T (p.Arg257Trp) rs766518430
NM_000159.3(GCDH):c.848delT (p.Leu283Argfs) rs761491320
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890
NM_000161.2(GCH1):c.323G>A (p.Gly108Asp) rs104894435
NM_000161.2(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000162.3(GCK):c.1003delG (p.Val335Cysfs) rs193922254
NM_000162.3(GCK):c.106C>T (p.Arg36Trp) rs762263694
NM_000162.3(GCK):c.1190G>T (p.Arg397Leu) rs193929375
NM_000162.3(GCK):c.175C>T (p.Pro59Ser) rs193922287
NM_000162.3(GCK):c.364-1G>A rs1057521094
NM_000162.3(GCK):c.449T>C (p.Phe150Ser) rs193922297
NM_000162.3(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.3(GCK):c.661G>A (p.Glu221Lys) rs193922317
NM_000162.3(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) rs764670582
NM_000166.5(GJB1):c.151T>C (p.Phe51Leu) rs876661269
NM_000166.5(GJB1):c.208C>G (p.Pro70Ala) rs878853697
NM_000166.5(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.5(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000166.5(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.5(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.5(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.5(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.5(GJB1):c.644G>C (p.Arg215Pro) rs864622215
NM_000166.5(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000168.5(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000169.2(GLA):c.1057_1058delAT (p.Met353Aspfs) rs886044829
NM_000169.2(GLA):c.1066C>T (p.Arg356Trp) rs104894827
NM_000169.2(GLA):c.109G>C (p.Ala37Pro)
NM_000169.2(GLA):c.1125_1140del16 (p.Val376Profs) rs876661347
NM_000169.2(GLA):c.295del (p.Gln99Lysfs)
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.2(GLA):c.484T>C (p.Trp162Arg) rs28935196
NM_000169.2(GLA):c.59_72dup (p.Asp25Profs) rs1555987175
NM_000169.2(GLA):c.605G>A (p.Cys202Tyr) rs869312344
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.2(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.2(GLA):c.640-1G>A
NM_000169.2(GLA):c.848dup (p.Met284Aspfs) rs1555985002
NM_000169.2(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1054delA (p.Thr352Glnfs) rs386833518
NM_000170.2(GLDC):c.1166C>T (p.Ala389Val) rs121964979
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) rs386833521
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1723G>T (p.Glu575Ter) rs1554646529
NM_000170.2(GLDC):c.1786C>T (p.Arg596Ter) rs386833531
NM_000170.2(GLDC):c.2186delC (p.Ala729Glufs) rs386833543
NM_000170.2(GLDC):c.2203-2A>G rs386833545
NM_000170.2(GLDC):c.2267_2269delTCT (p.Phe756del) rs121964975
NM_000170.2(GLDC):c.2284G>A (p.Gly762Arg) rs386833550
NM_000170.2(GLDC):c.2311G>A (p.Gly771Arg) rs386833553
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2423_2426dupGTTC (p.Ile810Phefs) rs755313904
NM_000170.2(GLDC):c.2527C>T (p.Arg843Ter) rs1554643360
NM_000170.2(GLDC):c.2584G>A (p.Glu862Lys) rs925908885
NM_000170.2(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530
NM_000170.2(GLDC):c.2665+1G>C rs149070244
NM_000170.2(GLDC):c.2838+2T>C rs1554641887
NM_000170.2(GLDC):c.2919+1G>A rs386833575
NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) rs191905539
NM_000170.2(GLDC):c.806C>T (p.Thr269Met) rs386833587
NM_000171.3(GLRA1):c.896G>T (p.Arg299Leu) rs121918408
NM_000174.4(GP9):c.182A>G (p.Asn61Ser) rs5030764
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.1128_1132delAAAGA (p.Arg379Terfs) rs1114167801
NM_000179.2(MSH6):c.1135_1139delAGAGA (p.Arg379Terfs) rs267608077
NM_000179.2(MSH6):c.1168_1170delGATinsAA (p.Asp390Asnfs) rs863225398
NM_000179.2(MSH6):c.1255_1268delCAGAACTTTGATCT (p.Gln419Cysfs) rs876661251
NM_000179.2(MSH6):c.1346T>C (p.Leu449Pro) rs63750741
NM_000179.2(MSH6):c.1352delT (p.Phe451Serfs) rs869312769
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.1610_1613delAGTA (p.Lys537Ilefs) rs771764652
NM_000179.2(MSH6):c.1634_1635delAA (p.Lys545Argfs) rs267608064
NM_000179.2(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.2(MSH6):c.1883G>A (p.Trp628Ter) rs863225401
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.2(MSH6):c.2230dupG (p.Glu744Glyfs) rs786201050
NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.2535dupT (p.Glu846Terfs) rs587779241
NM_000179.2(MSH6):c.260+2_260+3delTAinsAG rs1064794075
NM_000179.2(MSH6):c.261-1G>C rs863225402
NM_000179.2(MSH6):c.2805_2806delTG (p.Asp936Leufs) rs863225403
NM_000179.2(MSH6):c.2932C>T (p.Gln978Ter) rs587781372
NM_000179.2(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.2(MSH6):c.3018C>A (p.Tyr1006Ter) rs1553414395
NM_000179.2(MSH6):c.3037_3041delAAGAA (p.Lys1013Valfs) rs587782712
NM_000179.2(MSH6):c.3108_3109delGT (p.Phe1037Leufs) rs1553414519
NM_000179.2(MSH6):c.3172+1G>T rs587779255
NM_000179.2(MSH6):c.3173-1G>C rs397515875
NM_000179.2(MSH6):c.3173-1_3173delGA rs587779256
NM_000179.2(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3238_3239delCT (p.Leu1080Valfs) rs863225406
NM_000179.2(MSH6):c.3261dupC (p.Phe1088Leufs) rs267608078
NM_000179.2(MSH6):c.3439-1G>T rs587779263
NM_000179.2(MSH6):c.3439-2A>G rs267608098
NM_000179.2(MSH6):c.3463C>T (p.Gln1155Ter) rs1553332166
NM_000179.2(MSH6):c.3476dupA (p.Tyr1159Terfs) rs587782111
NM_000179.2(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.2(MSH6):c.3528_3532delACTTG (p.Leu1177Cysfs) rs863225408
NM_000179.2(MSH6):c.3556+1delG rs1064793489
NM_000179.2(MSH6):c.3574delG (p.Val1192Leufs) rs1553332671
NM_000179.2(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.2(MSH6):c.3660_3663dup (p.Phe1222Asnfs) rs752404604
NM_000179.2(MSH6):c.3699_3702dupAGAA (p.Leu1235Argfs) rs193922343
NM_000179.2(MSH6):c.3716_3717delTA (p.Ile1239Lysfs) rs1064794384
NM_000179.2(MSH6):c.3724_3726delCGT (p.Arg1242del) rs63749942
NM_000179.2(MSH6):c.3744_3773del30 (p.His1248_Ser1257del) rs863225412
NM_000179.2(MSH6):c.3753_3756dupATTA (p.Val1253Ilefs) rs876661222
NM_000179.2(MSH6):c.3798_3801+9delTATGGTATGTGCA rs1553333168
NM_000179.2(MSH6):c.3799_3800delAT (p.Met1267Glyfs) rs267608114
NM_000179.2(MSH6):c.3814_3827dup (p.Asp1277Lysfs)
NM_000179.2(MSH6):c.3840_3846delGGAGACT (p.Glu1281Leufs) rs63751319
NM_000179.2(MSH6):c.3841_3847dup (p.Ile1283Argfs) rs1114167720
NM_000179.2(MSH6):c.3850dup (p.Thr1284Asnfs) rs1553333421
NM_000179.2(MSH6):c.3878_3881dupCTTG (p.Pro1295Leufs) rs1553333500
NM_000179.2(MSH6):c.3922_3944dup (p.Lys1315Asnfs) rs1553333599
NM_000179.2(MSH6):c.3935_3954dup (p.Lys1319Leufs) rs1553333644
NM_000179.2(MSH6):c.3939_3940dupTC (p.Gln1314Leufs) rs730881830
NM_000179.2(MSH6):c.3980_3983dupATCA (p.Leu1330Valfs) rs1553333738
NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.2(MSH6):c.3999dupT (p.Arg1334Serfs) rs863225418
NM_000179.2(MSH6):c.3G>T (p.Met1Ile) rs876660095
NM_000179.2(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.2(MSH6):c.4004_4007dupAAGT (p.Cys1337Serfs) rs876658497
NM_000179.2(MSH6):c.741dupA (p.Arg248Thrfs) rs267608041
NM_000179.2(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_000179.2(MSH6):c.908dupT (p.Met303Ilefs) rs1057517551
NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000181.3(GUSB):c.1069C>T (p.Arg357Ter) rs121918185
NM_000181.3(GUSB):c.1144C>T (p.Arg382Cys) rs121918173
NM_000182.4(HADHA):c.1132C>T (p.Gln378Ter) rs137852770
NM_000182.4(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049
NM_000182.4(HADHA):c.157C>T (p.Arg53Ter) rs147103714
NM_000182.4(HADHA):c.1690-2A>G rs1057516217
NM_000182.4(HADHA):c.1793_1794delAT (p.His598Argfs) rs769580842
NM_000182.4(HADHA):c.180+1G>A rs786205088
NM_000182.4(HADHA):c.1811delG (p.Gly604Alafs) rs747985669
NM_000182.4(HADHA):c.1967delT (p.Leu656Terfs) rs779113356
NM_000182.4(HADHA):c.2000+1G>C rs1167218743
NM_000182.4(HADHA):c.2146+1G>A rs794727219
NM_000182.4(HADHA):c.274_278delTCATC (p.Ser92Lysfs) rs781205883
NM_000182.4(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.4(HADHA):c.919-2A>G rs200017313
NM_000183.2(HADHB):c.182G>A (p.Arg61His) rs121913132
NM_000183.2(HADHB):c.740G>A (p.Arg247His) rs121913133
NM_000187.3(HGD):c.342+1G>A rs397515518
NM_000187.3(HGD):c.899T>G (p.Val300Gly) rs120074170
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000191.2(HMGCL):c.206_207delCT (p.Ser69Cysfs) rs752137615
NM_000191.2(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000192.3(TBX5):c.668C>T (p.Thr223Met) rs1555225344
NM_000192.3(TBX5):c.710G>A (p.Arg237Gln) rs104894378
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000195.3(HPS1):c.1189delC (p.Gln397Serfs) rs281865084
NM_000197.1(HSD17B3):c.278-1G>C rs149607031
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077
NM_000199.3(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.3(SGSH):c.1105G>A (p.Glu369Lys) rs104894640
NM_000199.3(SGSH):c.1139A>G (p.Gln380Arg) rs144143780
NM_000199.3(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214
NM_000199.3(SGSH):c.1298G>A (p.Arg433Gln) rs104894641
NM_000199.3(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.3(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.3(SGSH):c.2T>C (p.Met1Thr) rs1488660868
NM_000199.3(SGSH):c.449G>A (p.Arg150Gln) rs104894638
NM_000199.3(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.3(SGSH):c.629G>A (p.Trp210Ter) rs886041370
NM_000199.3(SGSH):c.673T>C (p.Phe225Leu) rs1057521801
NM_000199.3(SGSH):c.697C>T (p.Arg233Ter) rs374621913
NM_000199.3(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000199.4(SGSH):c.1297C>T (p.Arg433Trp) rs777267343
NM_000199.4(SGSH):c.364G>A (p.Gly122Arg) rs761607612
NM_000203.4(IDUA):c.191_192del rs794727240
NM_000203.4(IDUA):c.46_57delTCGCTCCTGGCC (p.Ser16_Ala19del) rs398123260
NM_000203.4(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000203.5(IDUA):c.1650+5G>A rs398123256
NM_000203.5(IDUA):c.299+1G>T rs398123259
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453
NM_000206.2(IL2RG):c.202G>A (p.Glu68Lys) rs1057520644
NM_000206.2(IL2RG):c.270-1G>T rs193922346
NM_000206.2(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000206.2(IL2RG):c.758-1G>A rs886042051
NM_000211.4(ITGB2):c.817G>A (p.Gly273Arg) rs137852618
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr) rs121918353
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) rs28939668
NM_000215.3(JAK3):c.1767C>T (p.Gly589=) rs193922362
NM_000215.3(JAK3):c.678_679delCT (p.Cys227Profs) rs193922364
NM_000218.2(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.2(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.2(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458
NM_000218.2(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.2(KCNQ1):c.1135T>C (p.Trp379Arg) rs199472768
NM_000218.2(KCNQ1):c.1257delG (p.Lys422Serfs) rs1554895166
NM_000218.2(KCNQ1):c.1265delA (p.Lys422Serfs) rs397508083
NM_000218.2(KCNQ1):c.1394-1G>T rs775537394
NM_000218.2(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.2(KCNQ1):c.1559T>G (p.Met520Arg) rs199473479
NM_000218.2(KCNQ1):c.1565A>C (p.Tyr522Ser) rs199472789
NM_000218.2(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.2(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.2(KCNQ1):c.1664G>A (p.Arg555His) rs199472800
NM_000218.2(KCNQ1):c.1669A>G (p.Lys557Glu) rs199472801
NM_000218.2(KCNQ1):c.1685+1G>A rs794728531
NM_000218.2(KCNQ1):c.1686-2A>G rs878854350
NM_000218.2(KCNQ1):c.1686delG (p.Arg562Serfs) rs794728562
NM_000218.2(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.2(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854
NM_000218.2(KCNQ1):c.1762A>T (p.Ile588Phe) rs794728536
NM_000218.2(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000218.2(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815
NM_000218.2(KCNQ1):c.1893dupC (p.Arg632Glnfs) rs397508104
NM_000218.2(KCNQ1):c.421G>A (p.Val141Met) rs199472687
NM_000218.2(KCNQ1):c.425delT (p.Leu142Argfs) rs794728566
NM_000218.2(KCNQ1):c.468_469delCT (p.Phe157Leufs) rs1064795333
NM_000218.2(KCNQ1):c.488delT (p.Leu163Argfs) rs397508112
NM_000218.2(KCNQ1):c.521G>A (p.Arg174His) rs199472697
NM_000218.2(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.2(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.2(KCNQ1):c.573_577delGCGCT (p.Arg192Cysfs) rs397508118
NM_000218.2(KCNQ1):c.585delG (p.Lys196Serfs) rs397508120
NM_000218.2(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.2(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457
NM_000218.2(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.2(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.2(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.2(KCNQ1):c.776G>A (p.Arg259His) rs199472720
NM_000218.2(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.2(KCNQ1):c.830C>G (p.Ser277Trp) rs199472730
NM_000218.2(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730
NM_000218.2(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187
NM_000218.2(KCNQ1):c.905C>T (p.Ala302Val) rs193922365
NM_000218.2(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
NM_000218.2(KCNQ1):c.919_921+9delGTGGTAAGTCGG rs794728557
NM_000218.2(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.2(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000218.2(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756
NM_000219.5(KCNE1):c.12dup (p.Asn5Terfs) rs1131691762
NM_000219.5(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.5(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000222.2(KIT):c.1669T>A (p.Trp557Arg) rs121913235
NM_000222.2(KIT):c.1669T>C (p.Trp557Arg) rs121913235
NM_000222.2(KIT):c.1674G>T (p.Lys558Asn) rs200375589
NM_000222.2(KIT):c.1676T>A (p.Val559Asp) rs121913517
NM_000222.2(KIT):c.1676T>C (p.Val559Ala) rs121913517
NM_000222.2(KIT):c.1676T>G (p.Val559Gly) rs121913517
NM_000222.2(KIT):c.1679T>A (p.Val560Asp) rs121913521
NM_000222.2(KIT):c.1679T>G (p.Val560Gly) rs121913521
NM_000222.2(KIT):c.1679_1681del (p.Val560del) rs121913685
NM_000222.2(KIT):c.1727T>C (p.Leu576Pro) rs121913513
NM_000222.2(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000222.2(KIT):c.1961T>C (p.Val654Ala) rs121913523
NM_000222.2(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.2(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.2(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.2(KIT):c.2465A>T (p.Asn822Ile) rs993022333
NM_000222.2(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000222.2(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000222.2(KIT):c.2485G>C (p.Ala829Pro) rs1057519713
NM_000222.2(KIT):c.2515G>A (p.Glu839Lys) rs121913509
NM_000226.3(KRT9):c.487C>T (p.Arg163Trp) rs59616921
NM_000227.4(LAMA3):c.2248C>T (p.Gln750Ter) rs1555735252
NM_000228.2(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.2(LAMB3):c.1132+5G>A rs770302956
NM_000228.2(LAMB3):c.1365_1366delCA (p.Asn456Argfs) rs769967565
NM_000228.2(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805
NM_000228.2(LAMB3):c.1978C>T (p.Arg660Ter) rs146794392
NM_000228.2(LAMB3):c.2288delG (p.Gly763Alafs) rs886041893
NM_000228.2(LAMB3):c.2346delC (p.Thr783Profs) rs1057516486
NM_000228.2(LAMB3):c.499_500delAG (p.Ser167Leufs) rs1057516241
NM_000228.2(LAMB3):c.628+1G>A rs1057516539
NM_000231.2(SGCG):c.195+1G>C rs200502077
NM_000231.2(SGCG):c.195+4_195+7delAGTA rs797045106
NM_000231.2(SGCG):c.579-2A>G rs754415994
NM_000231.2(SGCG):c.581T>C (p.Leu194Ser) rs547818652
NM_000231.2(SGCG):c.787G>A (p.Glu263Lys) rs104894423
NM_000231.2(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000232.4(SGCB):c.1_2delAT (p.Met1Glyfs) rs886042503
NM_000232.4(SGCB):c.272G>T (p.Arg91Leu) rs104893869
NM_000232.4(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.4(SGCB):c.29_33del5 (p.Glu10Alafs) rs1057517064
NM_000232.4(SGCB):c.31C>T (p.Gln11Ter) rs752492870
NM_000232.4(SGCB):c.341C>T (p.Ser114Phe) rs150518260
NM_000232.4(SGCB):c.452C>G (p.Thr151Arg) rs28936383
NM_000232.4(SGCB):c.552T>G (p.Tyr184Ter) rs104893868
NM_000232.4(SGCB):c.656_657delAA (p.Lys219Serfs) rs775458201
NM_000233.3(LHCGR):c.1193T>C (p.Met398Thr) rs121912526
NM_000235.3(LIPA):c.350_351insCC (p.Met117Ilefs) rs753796180
NM_000235.3(LIPA):c.482del (p.Asn161Ilefs) rs762559980
NM_000235.3(LIPA):c.599T>C (p.Leu200Pro) rs121965086
NM_000235.3(LIPA):c.894G>A (p.Gln298=) rs116928232
NM_000235.4(LIPA):c.594dup (p.Ala199Cysfs) rs780495201
NM_000238.3(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.3(KCNH2):c.1129-1G>A rs794728478
NM_000238.3(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_000238.3(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.3(KCNH2):c.1701delC (p.Trp568Glyfs) rs794728440
NM_000238.3(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.3(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_000238.3(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.3(KCNH2):c.1847A>G (p.Tyr616Cys) rs199472946
NM_000238.3(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.3(KCNH2):c.1886A>C (p.Asn629Thr) rs199472957
NM_000238.3(KCNH2):c.1894C>T (p.Pro632Ser) rs199473527
NM_000238.3(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.3(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979
NM_000238.3(KCNH2):c.2083C>T (p.Gln695Ter) rs1064794793
NM_000238.3(KCNH2):c.209A>G (p.His70Arg) rs199473419
NM_000238.3(KCNH2):c.2145+1G>A rs886039385
NM_000238.3(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.3(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990
NM_000238.3(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512
NM_000238.3(KCNH2):c.2320G>T (p.Asp774Tyr) rs199472995
NM_000238.3(KCNH2):c.2398+1G>T rs794728391
NM_000238.3(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.3(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538
NM_000238.3(KCNH2):c.2509G>A (p.Asp837Asn) rs199473005
NM_000238.3(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.3(KCNH2):c.2724_2728dupGGGGC (p.Pro910Argfs) rs794728449
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.2843G>A (p.Arg948His) rs199473011
NM_000238.3(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000248.3(MITF):c.763C>T (p.Arg255Ter) rs1057517966
NM_000248.3(MITF):c.952G>A (p.Glu318Lys) rs149617956
NM_000249.3(MLH1):c.-27C>A rs587779001
NM_000249.3(MLH1):c.-42C>T rs41285097
NM_000249.3(MLH1):c.1011dupC (p.Asn338Glnfs) rs63750677
NM_000249.3(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.3(MLH1):c.1039-2A>G rs267607815
NM_000249.3(MLH1):c.116+1G>A rs267607709
NM_000249.3(MLH1):c.116+5G>C rs267607710
NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.3(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.3(MLH1):c.1409+1G>A rs267607825
NM_000249.3(MLH1):c.1409+1G>T rs267607825
NM_000249.3(MLH1):c.1410-2_1410-1delinsCC
NM_000249.3(MLH1):c.1558+1G>A rs267607832
NM_000249.3(MLH1):c.1559-1G>C rs267607837
NM_000249.3(MLH1):c.1559-2A>C rs267607836
NM_000249.3(MLH1):c.156delA (p.Glu53Argfs) rs63750028
NM_000249.3(MLH1):c.1588_1590delTTC (p.Phe530del) rs587778930
NM_000249.3(MLH1):c.1597delT (p.Cys533Valfs)
NM_000249.3(MLH1):c.1649T>C (p.Leu550Pro) rs63750193
NM_000249.3(MLH1):c.1667+2T>C rs878853780
NM_000249.3(MLH1):c.1668-1G>A rs267607845
NM_000249.3(MLH1):c.1731+2T>C rs267607856
NM_000249.3(MLH1):c.174_175delGAinsT (p.Leu58Phefs) rs876660860
NM_000249.3(MLH1):c.1896+1G>A rs267607867
NM_000249.3(MLH1):c.1896+1G>T rs267607867
NM_000249.3(MLH1):c.1913_1926dupGATTACCCCTTCTG (p.Ile643Aspfs) rs587778958
NM_000249.3(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.3(MLH1):c.1989+1G>A rs267607879
NM_000249.3(MLH1):c.1989+1G>T rs267607879
NM_000249.3(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.3(MLH1):c.1990-2A>G rs267607883
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.3(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.2070_2071insTT (p.Ile691Leufs) rs876659681
NM_000249.3(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.3(MLH1):c.2103+1G>T rs267607888
NM_000249.3(MLH1):c.2103G>C (p.Gln701His) rs63750603
NM_000249.3(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000249.3(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.3(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.3(MLH1):c.2252_2253delAA (p.Lys751Serfs) rs267607901
NM_000249.3(MLH1):c.2266_2269dupTGTT (p.Ter757Leufs) rs267607892
NM_000249.3(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.3(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.3(MLH1):c.283delT (p.Ser95Leufs) rs1064795441
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.307-1G>C rs267607736
NM_000249.3(MLH1):c.307-2A>G rs267607732
NM_000249.3(MLH1):c.347delC (p.Thr116Lysfs) rs876661159
NM_000249.3(MLH1):c.34dup (p.Asp12Glyfs) rs1553637196
NM_000249.3(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.3(MLH1):c.380+1G>A rs267607745
NM_000249.3(MLH1):c.380G>A (p.Arg127Lys) rs63751595
NM_000249.3(MLH1):c.381-1G>A rs267607744
NM_000249.3(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.3(MLH1):c.404dup (p.Lys136Glufs) rs1553642079
NM_000249.3(MLH1):c.453+1G>T rs267607750
NM_000249.3(MLH1):c.454-1G>C rs193922370
NM_000249.3(MLH1):c.469dup (p.Tyr157Leufs) rs63751101
NM_000249.3(MLH1):c.545+1G>A rs267607765
NM_000249.3(MLH1):c.546-1G>A rs587779022
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.583A>T (p.Lys195Ter) rs863225383
NM_000249.3(MLH1):c.677+1G>A rs267607778
NM_000249.3(MLH1):c.677+1G>T rs267607778
NM_000249.3(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.3(MLH1):c.678-2A>G rs587779035
NM_000249.3(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.3(MLH1):c.739T>C (p.Ser247Pro) rs63750948
NM_000249.3(MLH1):c.790+4A>G rs267607786
NM_000249.3(MLH1):c.791-1G>A rs267607795
NM_000249.3(MLH1):c.791-2A>G rs267607794
NM_000249.3(MLH1):c.791-2A>T rs267607794
NM_000249.3(MLH1):c.791-5T>G rs267607788
NM_000249.3(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.3(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000249.3(MLH1):c.84delA (p.Ala29Leufs) rs587779045
NM_000249.3(MLH1):c.860delA (p.Asn287Thrfs) rs63750034
NM_000249.3(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.3(MLH1):c.884+3A>G rs267607803
NM_000249.3(MLH1):c.885-1G>A
NM_000249.3(MLH1):c.885-2A>G rs267607805
NM_000249.3(MLH1):c.971dupA (p.Arg325Alafs) rs587781554
NM_000250.1(MPO):c.1555_1568delATGGAACCCAACCC (p.Met519Profs) rs536522394
NM_000251.2(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.2(MSH2):c.1046C>T (p.Pro349Leu) rs587779067
NM_000251.2(MSH2):c.1076+1G>T rs267607940
NM_000251.2(MSH2):c.1077-1G>C rs267607944
NM_000251.2(MSH2):c.1077-1G>T rs267607944
NM_000251.2(MSH2):c.1077-2A>G rs267607943
NM_000251.2(MSH2):c.1077-66_1146del rs193922372
NM_000251.2(MSH2):c.1224T>G (p.Tyr408Ter) rs63750132
NM_000251.2(MSH2):c.1237C>T (p.Gln413Ter) rs863225387
NM_000251.2(MSH2):c.1251_1268del18insAGTT (p.Ile418Valfs) rs863225388
NM_000251.2(MSH2):c.1276+1G>A rs267607950
NM_000251.2(MSH2):c.1276+1G>T rs267607950
NM_000251.2(MSH2):c.1276+2T>C rs267607953
NM_000251.2(MSH2):c.1277-1G>A rs267607948
NM_000251.2(MSH2):c.1319T>C (p.Leu440Pro) rs587779084
NM_000251.2(MSH2):c.1386+1G>A rs267607957
NM_000251.2(MSH2):c.1401delA (p.Glu467Aspfs) rs1553365711
NM_000251.2(MSH2):c.1481C>G (p.Ser494Ter) rs370970617
NM_000251.2(MSH2):c.1510+2T>C rs1060502023
NM_000251.2(MSH2):c.1511-1G>A
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1661+1G>A rs267607969
NM_000251.2(MSH2):c.1661+1G>T rs267607969
NM_000251.2(MSH2):c.1661+5G>C rs267607972
NM_000251.2(MSH2):c.1662-2A>G rs267607971
NM_000251.2(MSH2):c.1759+1G>A rs587779108
NM_000251.2(MSH2):c.1759+1G>T
NM_000251.2(MSH2):c.1759G>C (p.Gly587Arg) rs63751140
NM_000251.2(MSH2):c.1760-1G>A rs587779110
NM_000251.2(MSH2):c.1827delT (p.His610Thrfs) rs587779112
NM_000251.2(MSH2):c.1838dup (p.Asn613Lysfs) rs1114167815
NM_000251.2(MSH2):c.1911delC (p.Arg638Glyfs) rs63750893
NM_000251.2(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.2(MSH2):c.1982_1985delAACA (p.Lys661Argfs) rs587779120
NM_000251.2(MSH2):c.2005+1G>A rs267607986
NM_000251.2(MSH2):c.2006-1G>C rs267607988
NM_000251.2(MSH2):c.2006-2A>G rs267607991
NM_000251.2(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.2(MSH2):c.2074G>A (p.Gly692Arg) rs63750232
NM_000251.2(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.2(MSH2):c.2087C>T (p.Pro696Leu) rs267607994
NM_000251.2(MSH2):c.20delA (p.Glu7Glyfs) rs267607915
NM_000251.2(MSH2):c.212-1G>A rs267607914
NM_000251.2(MSH2):c.2210+1G>A rs267608002
NM_000251.2(MSH2):c.2211-1G>T rs267607979
NM_000251.2(MSH2):c.2211-2A>G rs267608001
NM_000251.2(MSH2):c.2211-2A>T rs267608001
NM_000251.2(MSH2):c.2251G>A (p.Gly751Arg) rs63751119
NM_000251.2(MSH2):c.2295_2296insTA (p.Ile766Terfs) rs863225393
NM_000251.2(MSH2):c.2300C>G (p.Ser767Ter) rs863225395
NM_000251.2(MSH2):c.2335dupA (p.Met779Asnfs) rs63750149
NM_000251.2(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.2(MSH2):c.2458+1G>A rs267608010
NM_000251.2(MSH2):c.2502_2508delTAATTTC (p.Asn835Leufs) rs63751447
NM_000251.2(MSH2):c.2634+1G>A rs267608019
NM_000251.2(MSH2):c.2634+1G>T rs267608019
NM_000251.2(MSH2):c.2634G>A (p.Glu878=) rs63751624
NM_000251.2(MSH2):c.2680dupA (p.Met894Asnfs) rs876658211
NM_000251.2(MSH2):c.301_306delGAAGTT (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.340G>T (p.Glu114Ter) rs878853815
NM_000251.2(MSH2):c.366+1G>A rs267607924
NM_000251.2(MSH2):c.366+1G>T rs267607924
NM_000251.2(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.2(MSH2):c.488T>A (p.Val163Asp) rs63750214
NM_000251.2(MSH2):c.528_529delTG (p.Cys176Terfs) rs587779164
NM_000251.2(MSH2):c.560T>C (p.Leu187Pro) rs63751444
NM_000251.2(MSH2):c.571_573delCTC (p.Leu191del) rs587779165
NM_000251.2(MSH2):c.645+1G>T rs267607689
NM_000251.2(MSH2):c.645+2T>C rs876658996
NM_000251.2(MSH2):c.645+2T>G rs876658996
NM_000251.2(MSH2):c.646-3T>G rs267607930
NM_000251.2(MSH2):c.646-?_792+?del
NM_000251.2(MSH2):c.75delC (p.Met26Cysfs) rs1553348760
NM_000251.2(MSH2):c.792+1delG rs1064794155
NM_000251.2(MSH2):c.793-1G>A rs863225397
NM_000251.2(MSH2):c.793-2A>C rs267607933
NM_000251.2(MSH2):c.860dupG (p.Gln288Thrfs) rs193922375
NM_000251.2(MSH2):c.871delC (p.Leu291Terfs) rs1064794809
NM_000251.2(MSH2):c.929T>C (p.Leu310Pro) rs63750640
NM_000251.2(MSH2):c.942+1G>T rs587779193
NM_000251.2(MSH2):c.942+2T>G rs587779195
NM_000251.2(MSH2):c.943-1G>A rs12476364
NM_000251.2(MSH2):c.943-1G>C rs12476364
NM_000251.2(MSH2):c.943-2A>G rs587779198
NM_000251.2(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000252.2(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) rs121913578
NM_000255.3(MMUT):c.1007delT (p.Met336Serfs) rs1064796328
NM_000255.3(MMUT):c.1038_1040delTCT (p.Leu347del) rs765373403
NM_000255.3(MMUT):c.1084-10A>G rs777031588
NM_000255.3(MMUT):c.1084-2A>G rs879253839
NM_000255.3(MMUT):c.1126_1127delGC (p.Ala376Serfs) rs1554159950
NM_000255.3(MMUT):c.1489G>T (p.Glu497Ter) rs879253844
NM_000255.3(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.3(MMUT):c.1956+2T>C rs750619189
NM_000255.3(MMUT):c.2099T>A (p.Met700Lys) rs140600746
NM_000255.3(MMUT):c.312delC (p.Trp105Glyfs) rs1064793768
NM_000255.3(MMUT):c.313T>C (p.Trp105Arg) rs121918249
NM_000255.3(MMUT):c.52C>T (p.Gln18Ter) rs121918248
NM_000255.3(MMUT):c.670G>T (p.Glu224Ter) rs1554160638
NM_000255.3(MMUT):c.982C>T (p.Leu328Phe) rs796052002
NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter) rs730880631
NM_000256.3(MYBPC3):c.1084dupA (p.Ser362Lysfs) rs730880723
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.1153_1168delGTGGAACTGGCTGACC (p.Val385Metfs) rs869025465
NM_000256.3(MYBPC3):c.1223+1G>A rs730880639
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893
NM_000256.3(MYBPC3):c.1227-2A>G rs730880531
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1358dupC (p.Val454Cysfs) rs727503203
NM_000256.3(MYBPC3):c.1404delG (p.Gln469Serfs) rs886037900
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907
NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter) rs730880544
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1577_1580dupCACT (p.Cys528Thrfs) rs730880712
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1641_1642delGT (p.Tyr548Profs) rs398123279
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000256.3(MYBPC3):c.1838dupA (p.Asp613Glufs) rs730880649
NM_000256.3(MYBPC3):c.1898-1G>A rs730880558
NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter) rs397515942
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter) rs863224483
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2394dupT (p.Gly799Trpfs) rs730880341
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655
NM_000256.3(MYBPC3):c.2490dupT (p.His831Serfs) rs397515966
NM_000256.3(MYBPC3):c.2511delC (p.Ile837Metfs) rs730880653
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.26-2A>G rs376395543
NM_000256.3(MYBPC3):c.2603-1G>C rs977277400
NM_000256.3(MYBPC3):c.2610delC (p.Ser871Alafs) rs397515979
NM_000256.3(MYBPC3):c.2610dupC (p.Ser871Glnfs) rs397515979
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2792dupT (p.Lys932Glufs) rs730880716
NM_000256.3(MYBPC3):c.2833_2834delCG (p.Arg945Glyfs) rs397515987
NM_000256.3(MYBPC3):c.2864_2865delCT (p.Pro955Argfs) rs397515990
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.299_308delCAGAGCCCAT (p.Ala100Glyfs)
NM_000256.3(MYBPC3):c.305_308dup (p.Met103Ilefs) rs1555123633
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958
NM_000256.3(MYBPC3):c.3217dupC (p.Arg1073Profs) rs730880668
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter) rs397516010
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377
NM_000256.3(MYBPC3):c.3297dupG (p.Tyr1100Valfs) rs397516014
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469
NM_000256.3(MYBPC3):c.3332_3335dupAGTG (p.Trp1112Terfs) rs730880337
NM_000256.3(MYBPC3):c.3407_3409delACT (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020
NM_000256.3(MYBPC3):c.3491-2A>T rs397516022
NM_000256.3(MYBPC3):c.357delA (p.Ala120Profs) rs869025463
NM_000256.3(MYBPC3):c.3624dupC (p.Lys1209Glnfs) rs397516029
NM_000256.3(MYBPC3):c.3628-41_3628-17delAGCCTGGATGGCTTCCCTCCCTCTC rs36212066
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000256.3(MYBPC3):c.3735delC (p.Phe1246Leufs) rs397516038
NM_000256.3(MYBPC3):c.373_374delGC (p.Ala125Terfs) rs1057517767
NM_000256.3(MYBPC3):c.3742_3759dup18 (p.Cys1253_Arg1254insGlyGlyIleTyrValCys) rs193922384
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167
NM_000256.3(MYBPC3):c.3776delA (p.Gln1259Argfs) rs727503166
NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) rs397514751
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile) rs397516045
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.459delC (p.Ile154Leufs) rs397516052
NM_000256.3(MYBPC3):c.505+1G>A rs730880620
NM_000256.3(MYBPC3):c.505+5G>C rs727503219
NM_000256.3(MYBPC3):c.551dupT (p.Lys185Glufs) rs397516059
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.747C>A (p.Cys249Ter) rs771929829
NM_000256.3(MYBPC3):c.772+1G>A rs397516072
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.821+1G>A rs397516073
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.833delG (p.Gly278Glufs) rs727503212
NM_000256.3(MYBPC3):c.852-2A>G
NM_000256.3(MYBPC3):c.897delG (p.Lys301Argfs) rs1555122928
NM_000256.3(MYBPC3):c.913_914delTT (p.Phe305Profs) rs397516080
NM_000256.3(MYBPC3):c.927-9G>A rs397516083
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000257.2(MYH7):c.1208G>T (p.Arg403Leu) rs121913624
NM_000257.2(MYH7):c.2191C>T (p.Pro731Ser) rs727504299
NM_000257.2(MYH7):c.2788G>A (p.Glu930Lys) rs397516171
NM_000257.2(MYH7):c.5378T>C (p.Leu1793Pro) rs121913654
NM_000257.2(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000257.3(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.3(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.3(MYH7):c.1491G>T (p.Glu497Asp) rs267606911
NM_000257.3(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.3(MYH7):c.1727A>G (p.His576Arg) rs727504238
NM_000257.3(MYH7):c.1750G>A (p.Gly584Ser) rs121913626
NM_000257.3(MYH7):c.1816G>A (p.Val606Met) rs121913627
NM_000257.3(MYH7):c.1954A>G (p.Arg652Gly) rs727504239
NM_000257.3(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.3(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.3(MYH7):c.2081G>A (p.Arg694His) rs886039030
NM_000257.3(MYH7):c.2221G>A (p.Gly741Arg) rs121913632
NM_000257.3(MYH7):c.2229G>C (p.Glu743Asp) rs397516139
NM_000257.3(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.3(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.3(MYH7):c.2536G>C (p.Glu846Gln) rs730880748
NM_000257.3(MYH7):c.2543A>G (p.Glu848Gly) rs727504311
NM_000257.3(MYH7):c.2555T>C (p.Met852Thr) rs397516157
NM_000257.3(MYH7):c.2644C>G (p.Gln882Glu) rs397516160
NM_000257.3(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.3(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.3(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.3(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.3(MYH7):c.2791_2793delGAG (p.Glu931del) rs397516172
NM_000257.3(MYH7):c.3346G>A (p.Glu1116Lys) rs727504274
NM_000257.3(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202
NM_000257.3(MYH7):c.438G>T (p.Lys146Asn) rs397516212
NM_000257.3(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.3(MYH7):c.4772T>C (p.Leu1591Pro) rs730880808
NM_000257.3(MYH7):c.4807G>C (p.Ala1603Pro) rs730880809
NM_000257.3(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.3(MYH7):c.5399C>T (p.Ala1800Val) rs730880817
NM_000257.3(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.3(MYH7):c.5561C>T (p.Thr1854Met) rs372381770
NM_000257.3(MYH7):c.596C>T (p.Ala199Val) rs727504283
NM_000257.3(MYH7):c.611G>A (p.Arg204His) rs397516260
NM_000257.3(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.3(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.3(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000257.3(MYH7):c.732+1G>A rs730880850
NM_000257.3(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.3(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.3(MYH7):c.767G>A (p.Gly256Glu) rs121913633
NM_000257.3(MYH7):c.842G>C (p.Arg281Thr) rs730880856
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) rs727503269
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) rs121913642
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) rs121913638
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) rs121913630
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000258.2(MYL3):c.281G>A (p.Arg94His) rs199474703
NM_000258.2(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000258.2(MYL3):c.461G>A (p.Arg154His) rs104893749
NM_000260.3(MYO7A):c.1200+1G>A rs397516283
NM_000260.3(MYO7A):c.1555-8C>G rs1057517774
NM_000260.3(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206
NM_000260.3(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.3(MYO7A):c.1969C>T rs878853236
NM_000260.3(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000260.3(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.3(MYO7A):c.2187+1G>A rs111033290
NM_000260.3(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914
NM_000260.3(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.3(MYO7A):c.285+1G>C rs782661097
NM_000260.3(MYO7A):c.285+2T>C rs782292032
NM_000260.3(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298
NM_000260.3(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.3(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214
NM_000260.3(MYO7A):c.3591_3592delCT (p.Cys1198Argfs) rs1555090368
NM_000260.3(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.3(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.3(MYO7A):c.3764delA (p.Lys1255Argfs) rs111033347
NM_000260.3(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.3(MYO7A):c.4006C>T (p.Gln1336Ter)
NM_000260.3(MYO7A):c.4544_4551delAGATCATGinsCA (p.Glu1515_Met1517delinsAla) rs111033259
NM_000260.3(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.3(MYO7A):c.494C>T (p.Thr165Met) rs111033174
NM_000260.3(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182
NM_000260.3(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015
NM_000260.3(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321
NM_000260.3(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215
NM_000260.3(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180
NM_000260.3(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192
NM_000260.3(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423
NM_000260.3(MYO7A):c.5968C>T (p.Gln1990Ter) rs773844428
NM_000260.3(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966
NM_000260.3(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.3(MYO7A):c.635G>A (p.Arg212His) rs28934610
NM_000260.3(MYO7A):c.6439-2A>G rs397516330
NM_000260.3(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448
NM_000260.3(MYO7A):c.652G>A (p.Asp218Asn) rs201539845
NM_000260.3(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000260.3(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000261.1(MYOC):c.1102C>T (p.Gln368Ter) rs74315329
NM_000262.2(NAGA):c.479C>G (p.Ser160Cys) rs121434532
NM_000262.2(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.3(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596
NM_000263.3(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820
NM_000263.3(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598
NM_000263.3(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000263.3(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.3(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000263.3(NAGLU):c.1949G>A (p.Gly650Glu) rs527236037
NM_000263.3(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.3(NAGLU):c.383+1G>T rs727504028
NM_000263.3(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000263.3(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000264.3(PTCH1):c.395-1G>A rs368869806
NM_000264.4(PTCH1):c.1503+1G>C rs864622293
NM_000266.3(NDP):c.125A>G (p.His42Arg) rs104894874
NM_000266.3(NDP):c.155T>A (p.Leu52Ter) rs886043097
NM_000266.3(NDP):c.361C>T (p.Arg121Trp) rs104894878
NM_000267.3(NF1):c.1063-2A>G rs1060500358
NM_000267.3(NF1):c.1392+1delG (p.Ser465Valfs) rs1060500347
NM_000267.3(NF1):c.1527+1G>A rs1060500331
NM_000267.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_000267.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.2002-1G>A rs1555613743
NM_000267.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_000267.3(NF1):c.2326-2A>G rs1555613975
NM_000267.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_000267.3(NF1):c.2665dupA (p.Thr889Asnfs) rs886041348
NM_000267.3(NF1):c.2850+1G>T rs1131691122
NM_000267.3(NF1):c.288+1delG (p.Gln97Asnfs) rs1057519370
NM_000267.3(NF1):c.3197+1G>A rs1555614653
NM_000267.3(NF1):c.3301_3302delCA (p.Gln1101Valfs) rs1555614866
NM_000267.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_000267.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
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.4173A>T (p.Arg1391Ser) rs137854554
NM_000267.3(NF1):c.4269+1G>A rs1555618572
NM_000267.3(NF1):c.4269G>C (p.Lys1423Asn) rs199474750
NM_000267.3(NF1):c.4312_4314delGAA (p.Glu1438del) rs267606607
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4606dup (p.Thr1536Asnfs) rs1555619033
NM_000267.3(NF1):c.4773-1G>A rs1057518326
NM_000267.3(NF1):c.4935delT (p.Pro1646Leufs) rs1135402867
NM_000267.3(NF1):c.4973_4978delTCTATA (p.Ile1658_Tyr1659del) rs1135402868
NM_000267.3(NF1):c.5425C>G (p.Arg1809Gly) rs797045139
NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) rs771529172
NM_000267.3(NF1):c.5717delT (p.Leu1906Trpfs) rs1135402880
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.5943+1G>A rs1555534433
NM_000267.3(NF1):c.5944-1G>C rs1555534596
NM_000267.3(NF1):c.61-2A>G rs1131691100
NM_000267.3(NF1):c.655-2A>C rs1555608734
NM_000267.3(NF1):c.6579+1G>A rs1060500345
NM_000267.3(NF1):c.6579+1G>T rs1060500345
NM_000267.3(NF1):c.6611G>A (p.Trp2204Ter) rs1193716348
NM_000267.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_000267.3(NF1):c.6789_6792delTTAC (p.Tyr2264Thrfs) rs1555535032
NM_000267.3(NF1):c.6801A>G (p.Gln2267=) rs1064794756
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.7096_7101delAACTTT (p.Asn2366_Phe2367del) rs864622639
NM_000267.3(NF1):c.7518delG (p.Gln2507Asnfs) rs878853917
NM_000267.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_000270.3(PNP):c.286-18G>A rs1026474882
NM_000270.3(PNP):c.701G>C (p.Arg234Pro) rs104894451
NM_000271.4(NPC1):c.1142G>A (p.Trp381Ter) rs794727897
NM_000271.4(NPC1):c.1211G>A (p.Arg404Gln) rs139751448
NM_000271.4(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.4(NPC1):c.1554-1009G>A rs1055204017
NM_000271.4(NPC1):c.1628C>T (p.Pro543Leu) rs369368181
NM_000271.4(NPC1):c.1800delC (p.Ile601Phefs) rs483352879
NM_000271.4(NPC1):c.1920delG (p.His641Thrfs) rs886042270
NM_000271.4(NPC1):c.2201G>T (p.Ser734Ile) rs757475924
NM_000271.4(NPC1):c.2230_2231delGT (p.Val744Serfs) rs483352882
NM_000271.4(NPC1):c.2604+1G>A rs1555633454
NM_000271.4(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.4(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000271.4(NPC1):c.2819C>T (p.Ser940Leu) rs143124972
NM_000271.4(NPC1):c.2848G>A (p.Val950Met) rs120074135
NM_000271.4(NPC1):c.2861C>T (p.Ser954Leu) rs543206298
NM_000271.4(NPC1):c.2932C>T (p.Arg978Cys) rs28942108
NM_000271.4(NPC1):c.2972_2973delAG (p.Gln991Argfs) rs756815030
NM_000271.4(NPC1):c.2973_2974delGGinsAT (p.Gly992Trp) rs1555632971
NM_000271.4(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.4(NPC1):c.2974G>C (p.Gly992Arg) rs80358254
NM_000271.4(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.4(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.4(NPC1):c.3044_3097del rs797044431
NM_000271.4(NPC1):c.3104C>T (p.Ala1035Val) rs28942107
NM_000271.4(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.4(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.4(NPC1):c.3557G>A (p.Arg1186His) rs200444084
NM_000271.4(NPC1):c.3570_3573dupACTT (p.Ala1192Thrfs) rs750323164
NM_000271.4(NPC1):c.3591+1G>A rs786200877
NM_000271.4(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805
NM_000271.4(NPC1):c.3734_3735delCT (p.Pro1245Argfs) rs1064794009
NM_000271.4(NPC1):c.3742_3745delCTCA (p.Leu1248Valfs) rs774943545
NM_000271.4(NPC1):c.530G>A (p.Cys177Tyr) rs80358252
NM_000271.4(NPC1):c.721C>T (p.Gln241Ter) rs1064795718
NM_000271.4(NPC1):c.839delT (p.Leu280Cysfs) rs1057518711
NM_000274.3(OAT):c.1172G>A (p.Trp391Ter) rs386833596
NM_000274.3(OAT):c.1186C>T (p.Arg396Ter) rs121965036
NM_000274.3(OAT):c.1250C>T (p.Pro417Leu) rs121965044
NM_000274.3(OAT):c.159delC (p.His53Glnfs) rs386833599
NM_000274.3(OAT):c.192_193delAG (p.Gly65Lysfs) rs386833600
NM_000274.3(OAT):c.425_520del (p.Gly142_Ala173del) rs386833609
NM_000274.3(OAT):c.722C>T (p.Pro241Leu) rs121965051
NM_000274.3(OAT):c.994G>A (p.Val332Met) rs121965047
NM_000275.2(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.2(OCA2):c.1503+5G>A rs368124046
NM_000275.2(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000275.2(OCA2):c.619_636del18 (p.Leu207_Leu212del) rs767489236
NM_000275.2(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000275.2(OCA2):c.819_822delCTGGinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000276.3(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000277.1(PAH):c.1033G>T (p.Ala345Ser) rs62516062
NM_000277.1(PAH):c.1045T>C (p.Ser349Pro) rs62508646
NM_000277.1(PAH):c.1089delG (p.Lys363Asnfs) rs5030654
NM_000277.1(PAH):c.1097C>A (p.Pro366His) rs62516098
NM_000277.1(PAH):c.1157A>G (p.Tyr386Cys) rs62516141
NM_000277.1(PAH):c.1184C>G (p.Ala395Gly) rs62508736
NM_000277.1(PAH):c.165T>G (p.Phe55Leu) rs199475598
NM_000277.1(PAH):c.204A>T (p.Arg68Ser) rs76394784
NM_000277.1(PAH):c.250G>T (p.Asp84Tyr) rs62514902
NM_000277.1(PAH):c.283A>T (p.Ile95Phe) rs62508682
NM_000277.1(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000277.1(PAH):c.611A>G (p.Tyr204Cys) rs62514927
NM_000277.1(PAH):c.664_665delGA (p.Asp222Terfs) rs62514936
NM_000277.1(PAH):c.770G>T (p.Gly257Val) rs62642908
NM_000277.1(PAH):c.842+5G>A rs62516146
NM_000277.1(PAH):c.896T>G (p.Phe299Cys) rs62642933
NM_000277.1(PAH):c.960G>C (p.Lys320Asn) rs199475615
NM_000277.2(PAH):c.1066-3C>T rs62507344
NM_000277.2(PAH):c.116_118del (p.Phe39del) rs199475565
NM_000277.2(PAH):c.1199+1G>A rs62509015
NM_000277.2(PAH):c.165delT (p.Phe55Leufs) rs199475566
NM_000277.2(PAH):c.227A>G (p.Glu76Gly) rs62507347
NM_000277.2(PAH):c.261C>A (p.Ser87Arg) rs62516151
NM_000277.2(PAH):c.284_286delTCA (p.Ile95del) rs62508727
NM_000277.2(PAH):c.357delC (p.Trp120Glyfs) rs794727619
NM_000277.2(PAH):c.440C>T (p.Pro147Leu) rs199475694
NM_000277.2(PAH):c.441+1G>A rs62517166
NM_000277.2(PAH):c.47_48delCT (p.Ser16Terfs) rs62642906
NM_000277.2(PAH):c.694C>T (p.Gln232Ter) rs62507348
NM_000277.2(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.2(PAH):c.740G>T (p.Gly247Val) rs199475579
NM_000277.2(PAH):c.764T>C (p.Leu255Ser) rs62642930
NM_000277.2(PAH):c.776C>T (p.Ala259Val) rs118203921
NM_000277.2(PAH):c.806delT (p.Ile269Thrfs) rs62508687
NM_000277.2(PAH):c.847A>T (p.Ile283Phe) rs62517168
NM_000277.2(PAH):c.913-7A>G rs62517165
NM_000277.2(PAH):c.932T>C (p.Leu311Pro) rs62642936
NM_000277.2(PAH):c.941C>A (p.Pro314His) rs62642940
NM_000277.2(PAH):c.967_969delACA (p.Thr323del) rs199475618
NM_000277.2(PAH):c.974A>G (p.Tyr325Cys) rs62508578
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.1066-2A>T rs281865447
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter) rs1037293795
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.168+1G>A rs62514898
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796
NM_000277.3(PAH):c.441+5G>T rs62507321
NM_000277.3(PAH):c.490A>G (p.Ile164Val) rs199475647
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336
NM_000277.3(PAH):c.581T>C (p.Leu194Pro) rs5030844
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.754C>G (p.Arg252Gly) rs5030847
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953
NM_000277.3(PAH):c.823C>T (p.Pro275Ser) rs62508691
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000277.3(PAH):c.842+3G>C rs62507324
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935
NM_000278.3(PAX2):c.221_226dupAGACCG (p.Thr75_Gly76insGluThr) rs387906530
NM_000280.4(PAX6):c.1268A>T (p.Ter423Leu) rs121907922
NM_000280.4(PAX6):c.52G>C (p.Gly18Arg) rs886044289
NM_000280.4(PAX6):c.622C>T (p.Arg208Trp) rs757259413
NM_000281.2(PCBD1):c.259G>T (p.Glu87Ter) rs104894172
NM_000282.3(PCCA):c.1284+1G>A rs752761437
NM_000282.3(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.3(PCCA):c.1747-1G>C rs879253803
NM_000282.3(PCCA):c.1788G>A (p.Trp596Ter) rs776496862
NM_000282.3(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272
NM_000282.3(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.3(PCCA):c.229C>T (p.Arg77Trp) rs141371306
NM_000282.3(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.3(PCCA):c.722delG (p.Gly241Valfs) rs745571507
NM_000282.3(PCCA):c.775_779delCTAAT (p.Leu259Argfs) rs794726976
NM_000282.3(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000283.3(PDE6B):c.1678C>T (p.Arg560Cys) rs201541131
NM_000283.3(PDE6B):c.1923_1969del47insTCTGGG (p.Asn643Glyfs) rs869312177
NM_000283.3(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718
NM_000284.3(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000285.3(PEPD):c.692_694delACT (p.Tyr231del) rs745834191
NM_000286.2(PEX12):c.268_271delAAGA (p.Lys90Glufs) rs61752100
NM_000286.2(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.2(PEX12):c.533_535delAAC (p.Gln178del) rs61752102
NM_000286.2(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.2(PEX12):c.681-2A>C rs187526749
NM_000286.2(PEX12):c.894delC (p.Met300Terfs) rs398123302
NM_000287.3(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.3(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.3(PEX6):c.273G>A (p.Trp91Ter) rs1010184002
NM_000287.3(PEX6):c.311delG (p.Gly104Valfs) rs61753209
NM_000287.3(PEX6):c.821C>T (p.Pro274Leu) rs61753219
NM_000287.4(PEX6):c.1841del (p.Leu614Argfs) rs863225083
NM_000288.3(PEX7):c.13_19dup (p.Gly7Valfs) rs62636519
NM_000288.3(PEX7):c.340-10A>G rs267608255
NM_000288.3(PEX7):c.345T>G (p.Tyr115Ter) rs121909154
NM_000288.3(PEX7):c.618G>A (p.Trp206Ter) rs61753245
NM_000288.3(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000288.3(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.3(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.3(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000290.3(PGAM2):c.233G>A (p.Trp78Ter) rs10250779
NM_000292.2(PHKA2):c.3341C>T (p.Thr1114Ile) rs137852293
NM_000292.2(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000292.2(PHKA2):c.557G>A (p.Arg186His) rs137852290
NM_000292.2(PHKA2):c.884G>A (p.Arg295His) rs797044877
NM_000293.2(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000295.4(SERPINA1):c.1158dupC (p.Glu387Argfs) rs764325655
NM_000295.4(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869
NM_000295.4(SERPINA1):c.538C>T (p.Gln180Ter) rs864622051
NM_000295.4(SERPINA1):c.646+1G>T rs751235320
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) rs199422211
NM_000296.3(PKD1):c.12688C>T (p.Gln4230Ter)
NM_000296.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_000296.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_000296.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_000296.3(PKD1):c.8218G>T (p.Gly2740Ter) rs1555451368
NM_000297.3(PKD2):c.2240+1G>A rs1553927783
NM_000297.3(PKD2):c.964C>T (p.Arg322Trp) rs1553925453
NM_000298.5(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000302.3(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000303.2(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.2(PMM2):c.24delC (p.Cys9Alafs) rs768021123
NM_000303.2(PMM2):c.255+1G>A rs1060499598
NM_000303.2(PMM2):c.255+2T>C rs139716296
NM_000303.2(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.2(PMM2):c.323C>T (p.Ala108Val) rs200503569
NM_000303.2(PMM2):c.324delG (p.Ile110Leufs) rs1555449314
NM_000303.2(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.2(PMM2):c.395T>C (p.Ile132Thr) rs80338702
NM_000303.2(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.2(PMM2):c.442G>A (p.Asp148Asn) rs148032587
NM_000303.2(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000303.2(PMM2):c.484C>T (p.Arg162Trp) rs104894526
NM_000303.2(PMM2):c.563A>G (p.Asp188Gly) rs80338704
NM_000303.2(PMM2):c.580C>T (p.Arg194Ter) rs199562225
NM_000303.2(PMM2):c.623G>C (p.Gly208Ala) rs398123309
NM_000303.2(PMM2):c.640-15479C>T rs1258107584
NM_000303.2(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.2(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.2(PMM2):c.95_96delTAinsGC (p.Leu32Arg) rs398123312
NM_000303.3(PMM2):c.392del (p.Pro131Leufs) rs1555449607
NM_000304.2(PMP22):c.245T>C (p.Leu82Pro) rs878853113
NM_000304.3(PMP22):c.138delC (p.Ser47Glnfs) rs864622180
NM_000304.3(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.3(PMP22):c.448G>C (p.Gly150Arg) rs104894624
NM_000306.3(POU1F1):c.515G>A (p.Arg172Gln) rs104893765
NM_000310.3(PPT1):c.169dupA (p.Met57Asnfs) rs386833634
NM_000310.3(PPT1):c.175delG (p.Glu59Argfs) rs386833635
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.2T>C (p.Met1Thr) rs796052927
NM_000310.3(PPT1):c.325T>G (p.Tyr109Asp) rs386833642
NM_000310.3(PPT1):c.424C>T (p.Gln142Ter) rs796052925
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.490C>T (p.Arg164Ter) rs386833649
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.536+1G>A rs386833651
NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) rs386833655
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000311.3(PRNP):c.538G>A (p.Val180Ile) rs74315408
NM_000312.3(PROC):c.169C>T (p.Arg57Trp) rs757583846
NM_000312.3(PROC):c.631C>T (p.Arg211Trp) rs121918143
NM_000312.3(PROC):c.935C>T (p.Ser312Leu) rs121918160
NM_000314.4(PTEN):c.165-1G>A rs786203847
NM_000314.4(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.4(PTEN):c.254-1G>A rs1057520208
NM_000314.4(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.4(PTEN):c.379G>A (p.Gly127Arg) rs587781255
NM_000314.4(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.4(PTEN):c.39_40delAA (p.Arg14Glufs) rs587776671
NM_000314.4(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.4(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.4(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.4(PTEN):c.964A>T (p.Lys322Ter) rs786202004
NM_000314.4(PTEN):c.968dupA (p.Asn323Lysfs) rs121913291
NM_000314.6(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.6(PTEN):c.1026+1G>A rs786201041
NM_000314.6(PTEN):c.1026+1G>C rs786201041
NM_000314.6(PTEN):c.1027-2A>G rs1085308041
NM_000314.6(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.6(PTEN):c.209+4_209+7delAGTA rs398123318
NM_000314.6(PTEN):c.253+1G>A rs587776667
NM_000314.6(PTEN):c.253+1dup rs876660082
NM_000314.6(PTEN):c.253+2T>A rs1224040268
NM_000314.6(PTEN):c.253+5G>A rs1554897889
NM_000314.6(PTEN):c.253+5G>T rs1554897889
NM_000314.6(PTEN):c.309delC (p.Cys105Valfs) rs1554898088
NM_000314.6(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.6(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.6(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.6(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.6(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.6(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.6(PTEN):c.518G>A (p.Arg173His) rs121913294
NM_000314.6(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.6(PTEN):c.564T>A (p.Tyr188Ter) rs606231170
NM_000314.6(PTEN):c.635-3C>G rs1085308056
NM_000314.6(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000314.6(PTEN):c.761_765delAAGTA (p.Lys254Argfs) rs606231169
NM_000314.6(PTEN):c.80-1G>C rs786204914
NM_000314.6(PTEN):c.801+1delG rs1060500110
NM_000314.6(PTEN):c.802-2A>G rs587782455
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.6(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.6(PTEN):c.865_866insCT (p.Lys289Thrfs) rs1554825530
NM_000314.6(PTEN):c.975_988delTGACAAAGCAAATAinsCGCTT (p.Asp326_Val403delinsAla) rs1114167640
NM_000314.7(PTEN):c.1027-1G>A rs1057517809
NM_000314.7(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.7(PTEN):c.270dup (p.Glu91Terfs) rs1114167678
NM_000314.7(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.7(PTEN):c.500C>A (p.Thr167Asn) rs397514559
NM_000314.7(PTEN):c.509G>T (p.Ser170Ile) rs876660507
NM_000314.7(PTEN):c.510T>A (p.Ser170Arg) rs121909221
NM_000314.7(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.7(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.7(PTEN):c.884_900del17insG (p.Leu295Argfs) rs1114167680
NM_000317.2(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.2(PTS):c.347A>G (p.Asp116Gly) rs104894279
NM_000317.2(PTS):c.84-3C>G rs1230781262
NM_000318.2(PEX2):c.339_345delCAGGTGG (p.Arg114Terfs) rs764771123
NM_000318.2(PEX2):c.373C>T (p.Arg125Ter) rs61752124
NM_000321.2(RB1):c.1049+1G>A rs587776782
NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.2(RB1):c.1363C>T (p.Arg455Ter) rs121913302
NM_000321.2(RB1):c.1390-2A>G rs1555286568
NM_000321.2(RB1):c.1421+12_1421+32delACTTTTAGTAAAAAATTTTTT rs587781256
NM_000321.2(RB1):c.1439_1441delACA (p.Asn480del) rs587776788
NM_000321.2(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.2(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.2(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.2(RB1):c.1960+5G>A rs587778871
NM_000321.2(RB1):c.1981C>T (p.Arg661Trp) rs137853294
NM_000321.2(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.2(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000321.2(RB1):c.409G>T (p.Glu137Ter) rs121913296
NM_000321.2(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000322.4(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.4(PRPH2):c.629C>G (p.Pro210Arg) rs61755798
NM_000326.4(RLBP1):c.141+2T>C rs760650165
NM_000326.4(RLBP1):c.677T>A (p.Met226Lys) rs137853291
NM_000328.2(RPGR):c.1905+500_1905+501delAG rs398122960
NM_000329.2(RPE65):c.11+5G>A rs61751276
NM_000329.2(RPE65):c.130C>T (p.Arg44Ter) rs368088025
NM_000329.2(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000329.2(RPE65):c.304G>T (p.Glu102Ter) rs62642584
NM_000330.3(RS1):c.422G>A (p.Arg141His) rs61752159
NM_000330.3(RS1):c.522+1G>A rs281865348
NM_000330.3(RS1):c.590G>A (p.Arg197His) rs281865355
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) rs121908546
NM_000334.4(SCN4A):c.4078A>G (p.Met1360Val) rs80338959
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000338.2(SLC12A1):c.1163delT (p.Phe388Serfs) rs779588655
NM_000339.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823
NM_000339.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380
NM_000339.2(SLC12A3):c.2191G>A (p.Gly731Arg)
NM_000339.2(SLC12A3):c.2576T>C (p.Leu859Pro) rs121909379
NM_000339.2(SLC12A3):c.2891G>A (p.Arg964Gln) rs202114767
NM_000339.2(SLC12A3):c.2965G>A (p.Gly989Arg)
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000344.3(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.3(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000344.3(SMN1):c.835-2A>G
NM_000344.3(SMN1):c.93_96dup (p.Ile33Terfs) rs1554081950
NM_000348.3(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000348.3(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000349.2(STAR):c.505G>A (p.Glu169Lys) rs747169620
NM_000349.2(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000349.2(STAR):c.559G>A (p.Val187Met) rs104894089
NM_000350.2(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979
NM_000350.2(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.2(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447
NM_000350.2(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.2(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.2(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559
NM_000350.2(ABCA4):c.179C>T (p.Ala60Val) rs55732384
NM_000350.2(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.2(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398
NM_000350.2(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.2(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.2(ABCA4):c.2300T>A (p.Val767Asp) rs61751395
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.2(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.2(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120
NM_000350.2(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399
NM_000350.2(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269
NM_000350.2(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.2(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.2(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573
NM_000350.2(ABCA4):c.4195G>T (p.Glu1399Ter) rs62642573
NM_000350.2(ABCA4):c.4253+4C>T rs61754044
NM_000350.2(ABCA4):c.4253+5G>A rs61750138
NM_000350.2(ABCA4):c.4253+5G>T rs61750138
NM_000350.2(ABCA4):c.4328G>A (p.Arg1443His) rs61750142
NM_000350.2(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145
NM_000350.2(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146
NM_000350.2(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.2(ABCA4):c.4537dupC (p.Gln1513Profs) rs281865377
NM_000350.2(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000350.2(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574
NM_000350.2(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.2(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155
NM_000350.2(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.2(ABCA4):c.5018+2T>C rs61750562
NM_000350.2(ABCA4):c.52C>T (p.Arg18Trp) rs121909205
NM_000350.2(ABCA4):c.5461-10T>C rs1800728
NM_000350.2(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.2(ABCA4):c.5714+5G>A rs61751407
NM_000350.2(ABCA4):c.5836-3C>A rs1064793013
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.2(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.2(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.2(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648
NM_000350.2(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.2(ABCA4):c.6342G>A (p.Val2114=) rs61748520
NM_000350.2(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000350.2(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654
NM_000350.2(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384
NM_000350.2(ABCA4):c.6729+5_6729+19delGTTGGCCCTGGGGCA rs749526785
NM_000350.2(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000352.4(ABCC8):c.1879del (p.His627Metfs) rs764613146
NM_000352.4(ABCC8):c.2222+1G>T rs1554923999
NM_000352.4(ABCC8):c.2695-1G>C rs1057517420
NM_000352.4(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678
NM_000352.4(ABCC8):c.3130_3149del rs886041392
NM_000352.4(ABCC8):c.331G>A (p.Gly111Arg) rs761749884
NM_000352.4(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.4(ABCC8):c.3574del (p.Asp1192Metfs) rs1057516317
NM_000352.4(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066
NM_000352.4(ABCC8):c.4119+1G>A rs797045211
NM_000352.4(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676
NM_000352.4(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.4(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716
NM_000352.4(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000352.4(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371
NM_000352.4(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.4(ABCC8):c.62T>A (p.Val21Asp) rs200670692
NM_000353.2(TAT):c.169C>T (p.Arg57Ter) rs118203914
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.3(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000358.2(TGFBI):c.1501C>A (p.Pro501Thr) rs121909212
NM_000359.2(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000359.2(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000359.2(TGM1):c.1187G>T (p.Arg396Leu) rs121918721
NM_000359.2(TGM1):c.1223_1227delACACA (p.Asp408Valfs) rs398122905
NM_000359.2(TGM1):c.132G>A (p.Trp44Ter) rs886039654
NM_000359.2(TGM1):c.1417G>A (p.Gly473Ser) rs904122716
NM_000359.2(TGM1):c.1744C>T (p.Gln582Ter) rs397514522
NM_000359.2(TGM1):c.184G>T (p.Gly62Ter) rs886041950
NM_000359.2(TGM1):c.377G>A (p.Arg126His) rs200491579
NM_000359.2(TGM1):c.379C>T (p.Arg127Ter) rs886041250
NM_000359.2(TGM1):c.424C>T (p.Arg142Cys) rs121918716
NM_000359.2(TGM1):c.428G>A (p.Arg143His) rs121918719
NM_000359.2(TGM1):c.652G>A (p.Gly218Ser) rs121918732
NM_000359.2(TGM1):c.790C>T (p.Arg264Trp) rs201868387
NM_000359.2(TGM1):c.832G>A (p.Gly278Arg) rs121918725
NM_000359.2(TGM1):c.872G>A (p.Gly291Asp) rs780990272
NM_000359.2(TGM1):c.876+2T>C rs151054393
NM_000359.2(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000359.2(TGM1):c.943C>T (p.Arg315Cys) rs397514525
NM_000359.2(TGM1):c.944G>T (p.Arg315Leu) rs143473912
NM_000359.2(TGM1):c.968G>A (p.Arg323Gln) rs121918717
NM_000363.4(TNNI3):c.422G>A (p.Arg141Gln) rs397516347
NM_000363.4(TNNI3):c.433C>T (p.Arg145Trp) rs104894724
NM_000363.4(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.4(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000363.4(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000363.4(TNNI3):c.485G>C (p.Arg162Pro) rs397516354
NM_000363.4(TNNI3):c.497C>T (p.Ser166Phe) rs727504242
NM_000363.4(TNNI3):c.508C>T (p.Arg170Trp) rs727503504
NM_000363.4(TNNI3):c.509G>A (p.Arg170Gln) rs727503503
NM_000363.4(TNNI3):c.523C>T (p.Gln175Ter) rs876661394
NM_000363.4(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_000363.4(TNNI3):c.557G>A (p.Arg186Gln) rs397516357
NM_000363.4(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000363.4(TNNI3):c.586G>A (p.Asp196Asn) rs104894727
NM_000363.4(TNNI3):c.610C>T (p.Arg204Cys) rs727504243
NM_000363.4(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.4(TSC1):c.2208+2T>A rs1064794132
NM_000368.4(TSC1):c.663+1G>A rs118203419
NM_000369.2(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000370.3(TTPA):c.2T>C (p.Met1Thr) rs786204758
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851
NM_000370.3(TTPA):c.487delT (p.Trp163Glyfs) rs397515378
NM_000371.3(TTR):c.130C>T (p.Pro44Ser) rs11541790
NM_000371.3(TTR):c.238A>G (p.Thr80Ala) rs121918070
NM_000371.3(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.3(TTR):c.262A>T (p.Ile88Leu) rs121918085
NM_000371.3(TTR):c.265T>C (p.Tyr89His) rs121918100
NM_000371.3(TTR):c.349G>T (p.Ala117Ser) rs267607161
NM_000371.3(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.3(TTR):c.424_426delGTC (p.Val142del) rs121918096
NM_000371.3(TTR):c.88T>C (p.Cys30Arg) rs121918083
NM_000372.4(TYR):c.1037-7T>A rs61754381
NM_000372.4(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.4(TYR):c.1199G>T (p.Trp400Leu) rs62645916
NM_000372.4(TYR):c.1204C>T (p.Arg402Ter) rs62645917
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.4(TYR):c.1209G>T (p.Arg403Ser) rs104894316
NM_000372.4(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.4(TYR):c.1255G>A (p.Gly419Arg) rs61754392
NM_000372.4(TYR):c.1336G>A (p.Gly446Ser) rs104894317
NM_000372.4(TYR):c.140G>A (p.Gly47Asp) rs61753180
NM_000372.4(TYR):c.230G>A (p.Arg77Gln) rs61753185
NM_000372.4(TYR):c.242C>T (p.Pro81Leu) rs28940876
NM_000372.4(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.4(TYR):c.650G>A (p.Arg217Gln) rs61754365
NM_000372.4(TYR):c.823G>T (p.Val275Phe) rs104894314
NM_000372.4(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000372.4(TYR):c.896G>A (p.Arg299His) rs61754375
NM_000377.2(WAS):c.91G>A (p.Glu31Lys) rs1557006239
NM_000380.3(XPA):c.631C>T (p.Arg211Ter) rs149226993
NM_000380.3(XPA):c.772_785delCGTAAGACTTGTAC (p.Arg258Tyrfs) rs778543124
NM_000382.2(ALDH3A2):c.1157A>G (p.Asn386Ser)
NM_000382.2(ALDH3A2):c.1297_1298delGA (p.Glu433Argfs) rs387906256
NM_000382.2(ALDH3A2):c.1307_1311dupACAAA (p.Leu438Thrfs) rs387906257
NM_000382.2(ALDH3A2):c.25_50del26 (p.Arg9Alafs)
NM_000382.2(ALDH3A2):c.471+1delG
NM_000382.2(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561
NM_000382.2(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562
NM_000382.2(ALDH3A2):c.574dupA (p.Ile192Asnfs) rs772967175
NM_000382.2(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568
NM_000382.2(ALDH3A2):c.798G>C (p.Lys266Asn) rs72547569
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr)
NM_000383.3(AIRE):c.1163_1164insA (p.Met388Ilefs) rs386833672
NM_000383.3(AIRE):c.1249dupC (p.Leu417Profs) rs786204567
NM_000383.3(AIRE):c.1616C>T (p.Pro539Leu) rs179363889
NM_000383.3(AIRE):c.232T>C (p.Trp78Arg) rs179363880
NM_000383.3(AIRE):c.274C>T (p.Arg92Trp) rs140630532
NM_000383.3(AIRE):c.463+2T>C rs786204478
NM_000383.3(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.3(AIRE):c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs) rs386833675
NM_000384.2(APOB):c.10182G>T (p.Lys3394Asn) rs1382988295
NM_000384.2(APOB):c.10579C>T (p.Arg3527Trp) rs144467873
NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.2(APOB):c.9175C>T (p.Arg3059Cys) rs146377316
NM_000388.3(CASR):c.196C>T (p.Arg66Cys) rs121909266
NM_000388.3(CASR):c.2657G>C (p.Arg886Pro) rs1057520791
NM_000388.3(CASR):c.413C>T (p.Thr138Met) rs121909263
NM_000388.3(CASR):c.428G>A (p.Gly143Glu) rs121909264
NM_000388.3(CASR):c.73C>T (p.Arg25Ter) rs201633414
NM_000390.2(CHM):c.1144G>T (p.Glu382Ter) rs786205604
NM_000391.3(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.3(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.3(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.3(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.3(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885
NM_000391.3(TPP1):c.1551+1G>A rs786204553
NM_000391.3(TPP1):c.229G>C (p.Gly77Arg) rs121908195
NM_000391.3(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.3(TPP1):c.509-1G>T rs56144125
NM_000391.3(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.3(TPP1):c.833A>G (p.Gln278Arg) rs796053439
NM_000391.3(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.3(TPP1):c.938_939delAT (p.Asn313Argfs) rs886041487
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter) rs72558199
NM_000396.3(CTSK):c.721C>T (p.Arg241Ter) rs74315303
NM_000396.3(CTSK):c.830C>T (p.Ala277Val) rs74315304
NM_000396.3(CTSK):c.926T>C (p.Leu309Pro) rs29001685
NM_000399.3(EGR2):c.1226G>A (p.Arg409Gln) rs864622273
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120
NM_000402.4(G6PD):c.1058T>C (p.Leu353Pro) rs76723693
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000403.3(GALE):c.280G>A (p.Val94Met) rs121908047
NM_000403.3(GALE):c.715C>T (p.Arg239Trp) rs137853860
NM_000404.2(GLB1):c.1646C>T (p.Pro549Leu) rs776327443
NM_000404.2(GLB1):c.245C>T rs72555393
NM_000404.2(GLB1):c.367G>A rs28934274
NM_000404.2(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.2(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.2(GLB1):c.464T>G (p.Leu155Arg) rs376710410
NM_000404.2(GLB1):c.602G>A (p.Arg201His) rs189115557
NM_000404.2(GLB1):c.808T>G (p.Tyr270Asp) rs376663785
NM_000404.2(GLB1):c.902C>T (p.Ala301Val) rs750531880
NM_000404.3(GLB1):c.1051C>T (p.Arg351Ter) rs72555372
NM_000404.3(GLB1):c.1174_1175delCT (p.Leu392Valfs) rs398123348
NM_000404.3(GLB1):c.1325G>A (p.Arg442Gln) rs564428355
NM_000404.3(GLB1):c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) rs398123349
NM_000404.3(GLB1):c.145C>T (p.Arg49Cys) rs72555358
NM_000404.3(GLB1):c.1479+1G>A rs1022476871
NM_000404.3(GLB1):c.1498A>G (p.Thr500Ala) rs72555368
NM_000404.3(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.3(GLB1):c.1733A>G (p.Lys578Arg) rs371582179
NM_000404.3(GLB1):c.175C>T (p.Arg59Cys) rs756878418
NM_000404.3(GLB1):c.245+1G>A rs778423653
NM_000404.3(GLB1):c.397-1G>A rs398123353
NM_000404.3(GLB1):c.443G>A (p.Arg148His) rs745864233
NM_000404.3(GLB1):c.947A>G (p.Tyr316Cys) rs72555361
NM_000405.4(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000406.2(GNRHR):c.30T>A (p.Asn10Lys) rs104893843
NM_000406.2(GNRHR):c.317A>G (p.Gln106Arg) rs104893836
NM_000409.4(GUCA1A):c.296A>G (p.Tyr99Cys) rs104893967
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000411.6(HLCS):c.1648G>A (p.Val550Met) rs119103231
NM_000411.6(HLCS):c.647T>G (p.Leu216Arg) rs28934602
NM_000411.6(HLCS):c.710T>C (p.Leu237Pro) rs119103227
NM_000411.7(HLCS):c.1135C>T (p.Gln379Ter) rs1393866282
NM_000411.7(HLCS):c.1519+5G>A rs753887925
NM_000412.4(HRG):c.271C>T (p.Pro91Ser) rs761776963
NM_000414.3(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.3(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971
NM_000414.3(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443
NM_000414.3(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_000414.3(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098
NM_000425.4(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_000426.3(LAMA2):c.112+1G>A rs398123367
NM_000426.3(LAMA2):c.1762delG (p.Ala588Leufs) rs786205654
NM_000426.3(LAMA2):c.2556delT (p.Phe852Leufs) rs750731624
NM_000426.3(LAMA2):c.2749+1G>C rs759555791
NM_000426.3(LAMA2):c.283+1G>A rs200288072
NM_000426.3(LAMA2):c.2962C>T (p.Gln988Ter) rs398123371
NM_000426.3(LAMA2):c.2T>C (p.Met1Thr) rs374403765
NM_000426.3(LAMA2):c.3623_3645del23 (p.Lys1208Argfs) rs727503992
NM_000426.3(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
NM_000426.3(LAMA2):c.396+1G>T rs770617208
NM_000426.3(LAMA2):c.4198C>T (p.Arg1400Ter) rs775112258
NM_000426.3(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373
NM_000426.3(LAMA2):c.4717+1G>T rs1131691660
NM_000426.3(LAMA2):c.498G>A (p.Trp166Ter) rs553221833
NM_000426.3(LAMA2):c.5050G>T (p.Glu1684Ter) rs201632009
NM_000426.3(LAMA2):c.5260delG (p.Val1754Terfs) rs794727594
NM_000426.3(LAMA2):c.5562+5G>C rs771046502
NM_000426.3(LAMA2):c.5706_5712delCTCATCT (p.Asp1902Glufs) rs398123377
NM_000426.3(LAMA2):c.5866-1G>A rs1064797040
NM_000426.3(LAMA2):c.5866-2A>G rs1554295204
NM_000426.3(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378
NM_000426.3(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383
NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915
NM_000426.3(LAMA2):c.7658delC (p.Ser2553Tyrfs) rs