ClinVar Miner

List of variants reported as likely pathogenic by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8068
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HGVS dbSNP
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_000016.5(ACADM):c.1045C>T (p.Arg349Ter) rs148207467
NM_000016.5(ACADM):c.1045del (p.Arg349fs) rs1057516463
NM_000016.5(ACADM):c.1073del (p.Lys358fs) rs1057517411
NM_000016.5(ACADM):c.1114dup (p.Ala372fs) rs1057516278
NM_000016.5(ACADM):c.1150G>T (p.Glu384Ter) rs748110745
NM_000016.5(ACADM):c.118+1G>T rs113887538
NM_000016.5(ACADM):c.1195-1G>C rs1553127378
NM_000016.5(ACADM):c.1195-2A>T rs879234543
NM_000016.5(ACADM):c.1207A>G (p.Thr403Ala) rs1462472677
NM_000016.5(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.1A>G (p.Met1Val) rs1057516778
NM_000016.5(ACADM):c.216+1G>T rs1057516801
NM_000016.5(ACADM):c.250C>T (p.Leu84Phe) rs762114560
NM_000016.5(ACADM):c.286+2T>G rs1553122996
NM_000016.5(ACADM):c.30+2T>C rs768596219
NM_000016.5(ACADM):c.320T>C (p.Leu107Ser) rs746136472
NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr) rs875989859
NM_000016.5(ACADM):c.387+1G>T rs1057516983
NM_000016.5(ACADM):c.387+1del rs786204424
NM_000016.5(ACADM):c.3G>C (p.Met1Ile) rs1553121887
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.469-2A>C rs1553123857
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+1G>A rs866388216
NM_000016.5(ACADM):c.599+2T>C rs148260275
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.617G>T (p.Arg206Leu) rs200724875
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_000016.5(ACADM):c.708+2T>G rs1553124805
NM_000016.5(ACADM):c.709-1G>A rs941714381
NM_000016.5(ACADM):c.709-2A>C rs1553125211
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) rs768884003
NM_000016.5(ACADM):c.817_829del (p.Ala273fs) rs875989872
NM_000016.5(ACADM):c.826_828delinsCC (p.Ala276fs) rs1553125264
NM_000016.5(ACADM):c.843A>T (p.Arg281Ser) rs780504551
NM_000016.5(ACADM):c.850-2A>G rs761317029
NM_000016.5(ACADM):c.926dup (p.Gly310fs) rs875989864
NM_000016.5(ACADM):c.949C>T (p.Gln317Ter) rs1057516564
NM_000016.5(ACADM):c.959C>A (p.Ser320Ter) rs1057516485
NM_000016.5(ACADM):c.977T>C (p.Met326Thr) rs786204631
NM_000016.5(ACADM):c.984del (p.Met328fs) rs747610156
NM_000016.5(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_000016.6(ACADM):c.173_174del (p.Glu58fs) rs1057517179
NM_000016.6(ACADM):c.270_271del (p.Ile91fs) rs766173642
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000016.6(ACADM):c.957_958del (p.Ser320fs) rs1057517103
NM_000017.4(ACADS):c.1029+1G>A rs1057516639
NM_000017.4(ACADS):c.1030-1G>A rs1226857910
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950
NM_000017.4(ACADS):c.1031del (p.Glu344fs) rs1057517155
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.4(ACADS):c.107dup (p.Thr37fs) rs750941135
NM_000017.4(ACADS):c.1084C>T (p.Gln362Ter) rs541587321
NM_000017.4(ACADS):c.1086+1G>A rs1555244367
NM_000017.4(ACADS):c.1086+1G>T rs1555244367
NM_000017.4(ACADS):c.1086+1del rs1555244366
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872
NM_000017.4(ACADS):c.1164_1165del (p.Glu389fs) rs1057516421
NM_000017.4(ACADS):c.125_135del (p.Leu42fs) rs1057516733
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) rs147442301
NM_000017.4(ACADS):c.1A>G (p.Met1Val) rs1291226969
NM_000017.4(ACADS):c.211-1G>A rs1057516566
NM_000017.4(ACADS):c.29_35dup (p.Ala13fs) rs765758808
NM_000017.4(ACADS):c.315del (p.Ser106fs) rs1057516385
NM_000017.4(ACADS):c.32del (p.Gly11fs) rs1057516967
NM_000017.4(ACADS):c.369C>G (p.Tyr123Ter) rs749491616
NM_000017.4(ACADS):c.409C>T (p.Gln137Ter) rs752677472
NM_000017.4(ACADS):c.417G>A (p.Trp139Ter) rs149107232
NM_000017.4(ACADS):c.473-2A>G rs1057516231
NM_000017.4(ACADS):c.527C>A (p.Ser176Ter) rs1057516848
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665
NM_000017.4(ACADS):c.593_594del (p.Phe198fs) rs1057516685
NM_000017.4(ACADS):c.675dup (p.Lys226fs) rs1057516436
NM_000017.4(ACADS):c.682_683del (p.Glu228fs) rs786204691
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys) rs796051906
NM_000018.2(ACADVL):c.343delG (p.Glu115Lysfs) rs387906249
NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer) rs1555528508
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs) rs1555527532
NM_000018.4(ACADVL):c.1077+1G>A rs140989450
NM_000018.4(ACADVL):c.1077+1G>T rs140989450
NM_000018.4(ACADVL):c.1077+2T>C rs1057516370
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105
NM_000018.4(ACADVL):c.1113del (p.Ile373fs) rs1057517416
NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del) rs1057517281
NM_000018.4(ACADVL):c.1182+1G>A rs113690956
NM_000018.4(ACADVL):c.1182+2T>C rs1555528635
NM_000018.4(ACADVL):c.1183-1G>A rs1057516818
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter) rs1057516519
NM_000018.4(ACADVL):c.1283del (p.Lys428fs) rs1555528745
NM_000018.4(ACADVL):c.1333-2A>T rs1057517280
NM_000018.4(ACADVL):c.1355dup (p.Arg453fs) rs1057517331
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000018.4(ACADVL):c.138+1G>A rs747351687
NM_000018.4(ACADVL):c.138+2T>C rs1057516817
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083
NM_000018.4(ACADVL):c.1434+2T>G rs1555528804
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) rs759775666
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val) rs779901247
NM_000018.4(ACADVL):c.1532+2T>C rs111851815
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970
NM_000018.4(ACADVL):c.1606-1G>A rs1057517386
NM_000018.4(ACADVL):c.1606-2A>C rs113467582
NM_000018.4(ACADVL):c.1679-6G>A rs113994171
NM_000018.4(ACADVL):c.16_32del (p.Met6fs) rs1555527450
NM_000018.4(ACADVL):c.1714dup (p.Ala572fs) rs1555529004
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648
NM_000018.4(ACADVL):c.1765del (p.Ser588_Leu589insTer) rs1057516226
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs) rs1555529048
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer) rs796051917
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs) rs1555529204
NM_000018.4(ACADVL):c.192del (p.Lys64fs) rs771055189
NM_000018.4(ACADVL):c.251_252del (p.Thr84fs) rs1452339268
NM_000018.4(ACADVL):c.256C>T (p.Gln86Ter) rs1555527732
NM_000018.4(ACADVL):c.266del (p.Pro89fs) rs771808680
NM_000018.4(ACADVL):c.277+1G>T rs1057517012
NM_000018.4(ACADVL):c.277+1del rs1555527741
NM_000018.4(ACADVL):c.277+2T>G rs1555527745
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs) rs786204713
NM_000018.4(ACADVL):c.299_305del (p.Gln100fs) rs1555527806
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs) rs1057516979
NM_000018.4(ACADVL):c.33del (p.Arg12fs) rs1555527464
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.398G>A (p.Trp133Ter) rs1555527907
NM_000018.4(ACADVL):c.3G>A (p.Met1Ile) rs768236474
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs) rs758144859
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter) rs786204738
NM_000018.4(ACADVL):c.478-1G>C rs1057517130
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs) rs1057516369
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.603C>G (p.Tyr201Ter) rs371407903
NM_000018.4(ACADVL):c.623-2_623-1del rs1555528265
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer) rs1057516714
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) rs786204536
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs) rs1555528304
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168
NM_000018.4(ACADVL):c.799_802del (p.Val267fs) rs761204548
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs) rs766192888
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.891del (p.Lys298fs) rs1057517180
NM_000018.4(ACADVL):c.932del (p.Phe311fs) rs764488310
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter) rs149467828
NM_000018.4(ACADVL):c.996del (p.Ala333fs) rs1057516843
NM_000018.4(ACADVL):c.996dup (p.Ala333fs) rs1057516843
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.4(ADA):c.1078+2T>A rs1555843178
NM_000022.4(ADA):c.218+1G>A rs528390681
NM_000022.4(ADA):c.218+2T>G rs1555845120
NM_000022.4(ADA):c.219-1G>A rs751147673
NM_000022.4(ADA):c.219-2A>G rs387906267
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.4(ADA):c.350G>A (p.Trp117Ter) rs749484894
NM_000022.4(ADA):c.383_404dup (p.Leu137fs) rs1555844616
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.603C>G (p.Tyr201Ter) rs1555844395
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338
NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs) rs757796081
NM_000022.4(ADA):c.790del (p.Trp264fs) rs1555844006
NM_000022.4(ADA):c.845+1G>C rs766590645
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000023.4(SGCA):c.-1_9del (p.Met1fs) rs1057517107
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter) rs763372958
NM_000023.4(SGCA):c.158-2A>G rs1057516300
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) rs757888349
NM_000023.4(SGCA):c.220del (p.Arg74fs) rs1555568325
NM_000023.4(SGCA):c.290A>G (p.Asp97Gly) rs1555568396
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621
NM_000023.4(SGCA):c.313-2A>G rs1057516650
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292
NM_000023.4(SGCA):c.464del (p.Ser155fs) rs1555568775
NM_000023.4(SGCA):c.480_481del (p.Leu161fs) rs1057517142
NM_000023.4(SGCA):c.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.489del (p.Leu164fs) rs753650776
NM_000023.4(SGCA):c.511C>T (p.Gln171Ter) rs1057516242
NM_000023.4(SGCA):c.559del (p.Leu187fs) rs1057516888
NM_000023.4(SGCA):c.580G>T (p.Glu194Ter) rs1057516664
NM_000023.4(SGCA):c.584+1del rs1555568876
NM_000023.4(SGCA):c.585-2A>T rs1555568965
NM_000023.4(SGCA):c.748-2A>T rs1412537279
NM_000023.4(SGCA):c.754_755del (p.Lys252fs) rs1057517377
NM_000023.4(SGCA):c.755del (p.Lys252fs) rs1057516548
NM_000023.4(SGCA):c.846_847delinsT (p.Asp283fs) rs1057516729
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000023.4(SGCA):c.949G>T (p.Glu317Ter) rs1555569339
NM_000023.4(SGCA):c.956+2_956+19del rs1555569342
NM_000027.4(AGA):c.127+1G>A rs1057516565
NM_000027.4(AGA):c.192del (p.Cys64fs) rs1553994830
NM_000027.4(AGA):c.1A>G (p.Met1Val) rs1054938291
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000027.4(AGA):c.28del (p.Leu10fs) rs1057517062
NM_000027.4(AGA):c.299G>A (p.Gly100Glu) rs386833421
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743
NM_000027.4(AGA):c.333del (p.Ile112fs) rs1057517223
NM_000027.4(AGA):c.376del (p.Leu126fs) rs1553994755
NM_000027.4(AGA):c.3G>C (p.Met1Ile) rs937973897
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989
NM_000027.4(AGA):c.490C>T (p.Gln164Ter) rs1057517329
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430
NM_000027.4(AGA):c.508-2A>G rs986682657
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.623-2A>G rs1483909684
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.70del (p.Ser24fs) rs1057517239
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436
NM_000027.4(AGA):c.86del (p.Leu29fs) rs764598121
NM_000027.4(AGA):c.940+1G>A rs386833437
NM_000027.4(AGA):c.940+1G>T rs386833437
NM_000027.4(AGA):c.941-2A>G rs1553993921
NM_000027.4(AGA):c.993T>G (p.Tyr331Ter) rs1201784742
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) rs180177168
NM_000030.3(AGXT):c.126dup (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.3(AGXT):c.221_227dup (p.Val77fs) rs180177183
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207
NM_000030.3(AGXT):c.423+1G>A rs1553648493
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) rs180177227
NM_000030.3(AGXT):c.524+2T>A rs1553648568
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) rs180177238
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) rs180177253
NM_000030.3(AGXT):c.673_676del (p.Lys225fs) rs1057516896
NM_000030.3(AGXT):c.681-1G>T rs112673831
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter) rs180177259
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter) rs786204545
NM_000030.3(AGXT):c.776+2T>G rs1553649007
NM_000030.3(AGXT):c.777-1G>C rs180177267
NM_000030.3(AGXT):c.847-1G>C rs180177285
NM_000030.3(AGXT):c.847-2_847-1del rs1553649375
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter) rs180177292
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter) rs180177294
NM_000030.3(AGXT):c.943-1G>T rs180177298
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) rs796052064
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000035.4(ALDOB):c.-11+1G>C rs181639417
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.1095G>C (p.Ter365Tyr) rs900220679
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.112+1del rs1057516534
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.287del (p.Asn96fs) rs1554702890
NM_000035.4(ALDOB):c.324+2T>A rs1057516379
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.325-1G>A rs1402966846
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.379+1G>A rs138121153
NM_000035.4(ALDOB):c.380-1G>A rs1554702666
NM_000035.4(ALDOB):c.380-2A>G rs1300461861
NM_000035.4(ALDOB):c.420del (p.Asp141fs) rs1057517421
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter) rs1057516902
NM_000035.4(ALDOB):c.546del (p.Leu183fs) rs1057517091
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.625-2A>G rs786204503
NM_000035.4(ALDOB):c.712dup (p.His238fs) rs1554702425
NM_000035.4(ALDOB):c.800-2A>C rs199965465
NM_000035.4(ALDOB):c.812del (p.Leu271fs) rs1554702353
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter) rs1057517133
NM_000035.4(ALDOB):c.940dup (p.Trp314fs) rs1554702328
NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter) rs1554702325
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter) rs1172384674
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1530dup (p.Gly511fs) rs1554081749
NM_000038.6(APC):c.1548+2T>C rs1057517561
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer) rs1554082135
NM_000038.6(APC):c.1917dup (p.Arg640fs) rs397515732
NM_000038.6(APC):c.2804dup (p.Tyr935Ter) rs863225332
NM_000038.6(APC):c.3013_3019del (p.Ala1005fs) rs1057517553
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter) rs863225345
NM_000038.6(APC):c.388del (p.Ser130fs) rs1554069828
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.422+2T>C rs879254169
NM_000038.6(APC):c.4619_4620del (p.Glu1540fs) rs1554086015
NM_000038.6(APC):c.476dup (p.Tyr159Ter) rs878853451
NM_000038.6(APC):c.531+1G>C rs876659973
NM_000038.6(APC):c.5659_5663del (p.Asn1887fs) rs1554086854
NM_000038.6(APC):c.5669C>G (p.Ser1890Ter) rs1554086862
NM_000038.6(APC):c.5952_5955del (p.Glu1985fs) rs1057517544
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter) rs1057517568
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.6(APC):c.933+2T>C rs1057517559
NM_000045.4(ARG1):c.129del (p.Glu44fs) rs1169538148
NM_000045.4(ARG1):c.130+1G>T rs113767658
NM_000045.4(ARG1):c.272dup (p.Arg92fs) rs796051923
NM_000045.4(ARG1):c.2T>C (p.Met1Thr) rs1554249332
NM_000045.4(ARG1):c.372dup (p.Ala125fs) rs776939220
NM_000045.4(ARG1):c.466-2A>G rs1554251045
NM_000045.4(ARG1):c.58-2A>C rs1554250040
NM_000045.4(ARG1):c.640_643dup (p.Thr215fs) rs1554251158
NM_000045.4(ARG1):c.693del (p.Phe231fs) rs1554251191
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg) rs104893948
NM_000045.4(ARG1):c.787G>T (p.Glu263Ter) rs747579073
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter) rs104893940
NM_000045.4(ARG1):c.874del (p.Thr292fs) rs771395982
NM_000048.4(ASL):c.1062+1G>T rs1554327825
NM_000048.4(ASL):c.1105del (p.Leu369fs) rs1554328206
NM_000048.4(ASL):c.111_133del (p.Asp38fs) rs1554326267
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286
NM_000048.4(ASL):c.1207del (p.Val403fs) rs1554328363
NM_000048.4(ASL):c.1249_1250+12del rs1554328381
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353
NM_000048.4(ASL):c.13-1G>C rs1554326239
NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter) rs932494060
NM_000048.4(ASL):c.1325del (p.Gly442fs) rs1554328479
NM_000048.4(ASL):c.260A>G (p.Asp87Gly) rs752100894
NM_000048.4(ASL):c.283_285delinsGGCG (p.Arg95fs) rs1554326365
NM_000048.4(ASL):c.291+1G>T rs201523601
NM_000048.4(ASL):c.292G>T (p.Glu98Ter) rs770375565
NM_000048.4(ASL):c.299T>C (p.Ile100Thr) rs202142867
NM_000048.4(ASL):c.337C>T (p.Arg113Trp) rs767543051
NM_000048.4(ASL):c.338G>A (p.Arg113Gln) rs752783461
NM_000048.4(ASL):c.446+2T>C rs1268519003
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073
NM_000048.4(ASL):c.566A>G (p.Glu189Gly) rs756363516
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663
NM_000048.4(ASL):c.602+1G>A rs398123127
NM_000048.4(ASL):c.631_647del (p.Val211fs) rs1554327181
NM_000048.4(ASL):c.735G>A (p.Trp245Ter) rs1554327573
NM_000048.4(ASL):c.973_976del (p.Leu325fs) rs763407938
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.236+1G>A rs1555538157
NM_000049.3(ASPA):c.237-1G>A rs1057517291
NM_000049.3(ASPA):c.237-1G>T rs1057517291
NM_000049.3(ASPA):c.237-2A>T rs780936696
NM_000049.3(ASPA):c.2T>C (p.Met1Thr) rs1057516879
NM_000049.3(ASPA):c.340G>T (p.Asp114Tyr) rs1446467099
NM_000049.3(ASPA):c.47T>C (p.Ile16Thr) rs769653717
NM_000049.3(ASPA):c.503G>A (p.Arg168His) rs770706390
NM_000049.3(ASPA):c.527-2A>C rs778385612
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.548C>A (p.Pro183His) rs1555539857
NM_000049.3(ASPA):c.640G>T (p.Glu214Ter) rs1057516416
NM_000049.3(ASPA):c.731A>G (p.His244Arg) rs1057516995
NM_000049.3(ASPA):c.745-1G>A rs1555541278
NM_000049.3(ASPA):c.745-2A>G rs1057517066
NM_000049.3(ASPA):c.746A>T (p.Asp249Val) rs104894552
NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000049.3(ASPA):c.820G>A (p.Gly274Arg) rs761064915
NM_000049.3(ASPA):c.859G>A (p.Ala287Thr) rs774323189
NM_000049.3(ASPA):c.867C>A (p.Tyr289Ter) rs375736464
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_000050.4(ASS1):c.366delG rs1057516544
NM_000050.4(ASS1):c.970+5G>A rs372128852
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.1065+1G>C rs201089102
NM_000051.3(ATM):c.1066-1G>T rs876660038
NM_000051.3(ATM):c.1066-2A>C rs1555069514
NM_000051.3(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.3(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.3(ATM):c.1235+1G>A rs1555069881
NM_000051.3(ATM):c.1236-1G>A rs1408719214
NM_000051.3(ATM):c.1305del (p.Leu435fs) rs1555070719
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.3(ATM):c.153dup (p.Gly52fs) rs1555054197
NM_000051.3(ATM):c.1607+1G>T rs772926890
NM_000051.3(ATM):c.1655del (p.Pro552fs) rs1057516876
NM_000051.3(ATM):c.1741_1742del (p.Leu581fs) rs1057516721
NM_000051.3(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.3(ATM):c.1754dup (p.Leu585fs) rs1555072012
NM_000051.3(ATM):c.1803-2A>G rs1057517358
NM_000051.3(ATM):c.1856del (p.Asn619fs) rs1057517300
NM_000051.3(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) rs768362387
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.2125-1G>A rs1402299151
NM_000051.3(ATM):c.2125del (p.Ile709fs) rs1057517248
NM_000051.3(ATM):c.2135C>G (p.Ser712Ter) rs1057516620
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.3(ATM):c.2377-2A>G rs1057516553
NM_000051.3(ATM):c.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.3(ATM):c.2467-2A>C rs1555082050
NM_000051.3(ATM):c.2542G>T (p.Glu848Ter) rs879254046
NM_000051.3(ATM):c.2606_2607del (p.Ala869fs) rs1057516944
NM_000051.3(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.2877C>G (p.Tyr959Ter) rs1057517253
NM_000051.3(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2921+1G>C rs587781558
NM_000051.3(ATM):c.2922-1G>T rs1555084931
NM_000051.3(ATM):c.2966dup (p.Ile990fs) rs1555085060
NM_000051.3(ATM):c.2999dup (p.Asn1000fs) rs1057516250
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3024dup (p.Glu1009Ter) rs1555085172
NM_000051.3(ATM):c.3068del (p.Gly1023fs) rs1057516590
NM_000051.3(ATM):c.3078-1G>A rs750663117
NM_000051.3(ATM):c.3102T>G (p.Tyr1034Ter) rs780240314
NM_000051.3(ATM):c.3154-1G>A rs1555085973
NM_000051.3(ATM):c.3231dup (p.Leu1078fs) rs1057517097
NM_000051.3(ATM):c.3284+1G>A rs864622129
NM_000051.3(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.3(ATM):c.331+1G>A rs1555055356
NM_000051.3(ATM):c.331+5G>A rs752135143
NM_000051.3(ATM):c.3315dup (p.Arg1106fs) rs1057516301
NM_000051.3(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer) rs1555090139
NM_000051.3(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833
NM_000051.3(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.3(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.3(ATM):c.3577-1G>C rs1057517226
NM_000051.3(ATM):c.3603del (p.Phe1201fs) rs1057517129
NM_000051.3(ATM):c.3747-2A>G rs1057517213
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.3(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.3(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.3(ATM):c.3990del (p.Lys1330fs) rs1057517100
NM_000051.3(ATM):c.3993+1G>T rs200196781
NM_000051.3(ATM):c.3994-1G>T rs1057516238
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.3(ATM):c.4007del (p.Phe1336fs) rs1555095841
NM_000051.3(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.3(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640
NM_000051.3(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.3(ATM):c.4236+1G>T rs876660674
NM_000051.3(ATM):c.4246C>T (p.Gln1416Ter) rs1057516311
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.4436+1G>T rs1555097894
NM_000051.3(ATM):c.4437-1G>C rs759520465
NM_000051.3(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.3(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.3(ATM):c.4612-1G>A rs1555100351
NM_000051.3(ATM):c.4612-2A>C rs1555100347
NM_000051.3(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.3(ATM):c.4695del (p.Pro1566fs) rs1057517452
NM_000051.3(ATM):c.4732C>T (p.Gln1578Ter) rs746499337
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+2T>A rs587781927
NM_000051.3(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.3(ATM):c.495_496+16del rs1555059522
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.5005+1G>T rs1057517427
NM_000051.3(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer) rs1057516358
NM_000051.3(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.3(ATM):c.5178-1G>A rs1555105579
NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter) rs764389018
NM_000051.3(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
NM_000051.3(ATM):c.5319+1G>T rs876660175
NM_000051.3(ATM):c.5320-4_5323del rs1057516540
NM_000051.3(ATM):c.5320-5_5320-2del rs730881310
NM_000051.3(ATM):c.5351del (p.Asn1784fs) rs1057517101
NM_000051.3(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.3(ATM):c.5433T>A (p.Cys1811Ter) rs1555106493
NM_000051.3(ATM):c.5460dup (p.Cys1821fs) 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.5549del (p.Leu1850fs) rs876658287
NM_000051.3(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
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.5712del (p.Lys1904fs) rs587781730
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.3(ATM):c.5762+1G>T rs869312756
NM_000051.3(ATM):c.5763-2A>T rs876659489
NM_000051.3(ATM):c.5798G>A (p.Trp1933Ter) rs876658740
NM_000051.3(ATM):c.588del (p.Gly197fs) rs1057516683
NM_000051.3(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.3(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.3(ATM):c.5919-2A>C rs746623393
NM_000051.3(ATM):c.5919-2A>G rs746623393
NM_000051.3(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.3(ATM):c.6095+2T>C rs1057516525
NM_000051.3(ATM):c.6347+1G>A rs1057517120
NM_000051.3(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.3(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.3(ATM):c.6452+2T>C rs1064795006
NM_000051.3(ATM):c.6572+1G>A rs587779856
NM_000051.3(ATM):c.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.3(ATM):c.663-2A>G rs886041931
NM_000051.3(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.3(ATM):c.6850del (p.Val2284fs) rs876659569
NM_000051.3(ATM):c.6976-2A>C rs587782403
NM_000051.3(ATM):c.7089+2T>G rs1057516235
NM_000051.3(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.3(ATM):c.7141_7151del (p.Asn2381fs) rs1555122030
NM_000051.3(ATM):c.7166C>G (p.Ser2389Ter) rs1018140779
NM_000051.3(ATM):c.72+1G>A rs786204088
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.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.7629_7629+4del rs876660041
NM_000051.3(ATM):c.7630-2A>G rs587779866
NM_000051.3(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.3(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.3(ATM):c.7880del (p.Tyr2627fs) rs1057516599
NM_000051.3(ATM):c.7927+5del rs786204437
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.7998dup (p.Met2667fs) rs587779869
NM_000051.3(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.3(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
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.829G>T (p.Glu277Ter) rs876660933
NM_000051.3(ATM):c.8307G>A (p.Trp2769Ter) rs778269655
NM_000051.3(ATM):c.8418+1G>A rs766533795
NM_000051.3(ATM):c.8535G>A (p.Trp2845Ter) rs1555138291
NM_000051.3(ATM):c.8585-2A>G rs1060501700
NM_000051.3(ATM):c.8671+2T>C rs1057516229
NM_000051.3(ATM):c.8725A>T (p.Arg2909Ter) rs1555142845
NM_000051.3(ATM):c.875C>T (p.Pro292Leu) rs747727055
NM_000051.3(ATM):c.877A>T (p.Lys293Ter) rs1057516442
NM_000051.3(ATM):c.8786+1G>A rs17174393
NM_000051.3(ATM):c.8786+1G>T rs17174393
NM_000051.3(ATM):c.8814_8824del (p.Met2938fs) rs758814126
NM_000051.3(ATM):c.8851-1G>T rs1057516537
NM_000051.3(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.3(ATM):c.8988-1G>A rs730881386
NM_000051.3(ATM):c.8988-2A>C rs786202087
NM_000051.3(ATM):c.8998C>T (p.Gln3000Ter) rs587781698
NM_000051.3(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.3(ATM):c.9109C>T (p.Gln3037Ter) rs1555152009
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer) rs1555096057
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000051.4(ATM):c.6348-1G>A rs1057517302
NM_000051.4(ATM):c.6482_6483dup (p.Ser2162fs) rs1057516905
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer) rs747057367
NM_000051.4(ATM):c.6997dup rs587781299
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs) rs786203421
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.4(ATM):c.8584+2T>C rs730881326
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000053.3(ATP7B):c.-676A>G rs1021025464
NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter) rs1057516516
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter) rs778490238
NM_000053.4(ATP7B):c.1221_1223delinsTATA (p.Ile408_Ser409insTer) rs1555296015
NM_000053.4(ATP7B):c.1285+2T>A rs759749626
NM_000053.4(ATP7B):c.1337_1338insTT (p.Gln447fs) rs1057517141
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs) rs1057517444
NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter) rs1057516305
NM_000053.4(ATP7B):c.1392dup (p.Arg465fs) rs1555295017
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter) rs778675259
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter) rs1057516418
NM_000053.4(ATP7B):c.1544-2A>C rs1555294398
NM_000053.4(ATP7B):c.1568T>A (p.Leu523Ter) rs773385516
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter) rs996419100
NM_000053.4(ATP7B):c.1700_1707+16del rs1555294199
NM_000053.4(ATP7B):c.1708-1G>C rs137853280
NM_000053.4(ATP7B):c.1708-2A>G rs1057517024
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.1739del (p.His580fs) rs1555293357
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.174dup (p.Thr59fs) rs1057516561
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer) rs780327716
NM_000053.4(ATP7B):c.1820dup (p.Phe608fs) rs1057516940
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter) rs1474837260
NM_000053.4(ATP7B):c.2011_2012dup (p.Met671fs) rs1555291870
NM_000053.4(ATP7B):c.2035del (p.His679fs) rs786204764
NM_000053.4(ATP7B):c.2038C>T (p.Gln680Ter) rs1555291848
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801
NM_000053.4(ATP7B):c.2097_2100del (p.Phe699fs) rs1555291784
NM_000053.4(ATP7B):c.2121+3A>G rs1248002612
NM_000053.4(ATP7B):c.2122-1G>A rs1319653818
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter) rs1057516380
NM_000053.4(ATP7B):c.2217dup (p.Ala740fs) rs1555291207
NM_000053.4(ATP7B):c.2222dup (p.Tyr741Ter) rs1180133690
NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs) rs1555291195
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu) rs1057516844
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly) rs751798708
NM_000053.4(ATP7B):c.2356-1G>A rs1555290925
NM_000053.4(ATP7B):c.2356-1G>C rs1555290925
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter) rs770020484
NM_000053.4(ATP7B):c.2438_2440delinsAT (p.Leu813fs) rs1555290810
NM_000053.4(ATP7B):c.2447+1del rs1057516732
NM_000053.4(ATP7B):c.2447+2T>G rs1555290800
NM_000053.4(ATP7B):c.2513del (p.Lys838fs) rs777362050
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile) rs777629392
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val) rs786204643
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr) rs1057520235
NM_000053.4(ATP7B):c.2575+1G>A rs766149114
NM_000053.4(ATP7B):c.2575+1G>C rs766149114
NM_000053.4(ATP7B):c.2576-2A>G rs757265256
NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro) rs376355660
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.4(ATP7B):c.2730+1G>A rs1057516425
NM_000053.4(ATP7B):c.2731-2A>G rs367956522
NM_000053.4(ATP7B):c.2743C>T (p.Gln915Ter) rs1555288479
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn) rs540935874
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452
NM_000053.4(ATP7B):c.2810del (p.Val937fs) rs1057516643
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys) rs1057517310
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs) rs1555288385
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689
NM_000053.4(ATP7B):c.2865+1G>A rs587783306
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr) rs1038582488
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg) rs199623434
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3074T>G (p.Met1025Arg) rs1555286633
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile) rs1555286628
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val) rs753594031
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro) rs1412025509
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.4(ATP7B):c.3157dup (p.Leu1053fs) rs1555286522
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) rs376910645
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.4(ATP7B):c.3243+1G>A rs748819198
NM_000053.4(ATP7B):c.3244-2A>G rs786204584
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) rs1286080173
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser) rs761632029
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp) rs775541743
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter) rs774221179
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs) rs1555285830
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563
NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met) rs1213481140
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs) rs1555285380
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr) rs1555285311
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter) rs1057516479
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter) rs748924063
NM_000053.4(ATP7B):c.3556+1G>A rs184388696
NM_000053.4(ATP7B):c.3556+1G>T rs184388696
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter) rs786204658
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu) rs1486594906
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs) rs886042519
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) rs568009639
NM_000053.4(ATP7B):c.3700-1G>A rs1555284021
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) rs769484789
NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala) rs1555283916
NM_000053.4(ATP7B):c.3800del (p.Asp1267fs) rs1057516740
NM_000053.4(ATP7B):c.3809del (p.Asn1270fs) rs1555283900
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln) rs758355520
NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs) rs1057517384
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs) rs1057516227
NM_000053.4(ATP7B):c.3948del (p.Thr1317fs) rs1057516228
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile) rs750530407
NM_000053.4(ATP7B):c.4022-2A>C rs1555282816
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe) rs776848753
NM_000053.4(ATP7B):c.4125-2A>G rs1555282347
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs) rs1555282316
NM_000053.4(ATP7B):c.4242del (p.Arg1415fs) rs1057517191
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs) rs1555282191
NM_000053.4(ATP7B):c.51+4A>T rs369488210
NM_000053.4(ATP7B):c.52-1G>T rs1057517351
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter) rs1412593296
NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter) rs1555296472
NM_000053.4(ATP7B):c.738dup (p.Glu247Ter) rs1555296414
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter) rs1555296356
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro) rs104893684
NM_000055.4(BCHE):c.1015C>T (p.Gln339Ter) rs1057517265
NM_000055.4(BCHE):c.1027dup (p.Thr343fs) rs754214624
NM_000055.4(BCHE):c.1030C>T (p.Gln344Ter) rs1553778114
NM_000055.4(BCHE):c.1073dup (p.Leu358fs) rs1057516450
NM_000055.4(BCHE):c.110del (p.Lys37fs) rs1057517439
NM_000055.4(BCHE):c.1183G>T (p.Glu395Ter) rs1057517221
NM_000055.4(BCHE):c.1222C>T (p.Gln408Ter) rs1278095773
NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys) rs745364489
NM_000055.4(BCHE):c.1240del (p.Arg414fs) rs1057517288
NM_000055.4(BCHE):c.1284C>A (p.Cys428Ter) rs762341786
NM_000055.4(BCHE):c.1372dup (p.Trp458fs) rs1553778044
NM_000055.4(BCHE):c.1497G>A (p.Trp499Ter) rs1553778017
NM_000055.4(BCHE):c.149del (p.Gly50fs) rs762189020
NM_000055.4(BCHE):c.1517+1G>T rs1057517218
NM_000055.4(BCHE):c.1528G>T (p.Glu510Ter) rs1057516482
NM_000055.4(BCHE):c.1576C>T (p.Gln526Ter) rs1057517144
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter) rs760485585
NM_000055.4(BCHE):c.1627C>T (p.Arg543Cys) rs199660374
NM_000055.4(BCHE):c.1684+1G>T rs1057516496
NM_000055.4(BCHE):c.1685-2A>G rs779366544
NM_000055.4(BCHE):c.206_207del (p.Leu69fs) rs1057516784
NM_000055.4(BCHE):c.295C>T (p.Gln99Ter) rs990121358
NM_000055.4(BCHE):c.382C>T (p.Pro128Ser) rs3732880
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp) rs201820739
NM_000055.4(BCHE):c.439C>T (p.Gln147Ter) rs760182781
NM_000055.4(BCHE):c.44G>A (p.Trp15Ter) rs1553778291
NM_000055.4(BCHE):c.493del (p.Glu165fs) rs1057516707
NM_000055.4(BCHE):c.495_498del (p.Arg166fs) rs772259613
NM_000055.4(BCHE):c.611del (p.Gln204fs) rs1553778198
NM_000055.4(BCHE):c.615G>A (p.Trp205Ter) rs568724445
NM_000055.4(BCHE):c.619C>T (p.Gln207Ter) rs1057517208
NM_000055.4(BCHE):c.635C>T (p.Ala212Val) rs114706984
NM_000055.4(BCHE):c.662del (p.Thr221fs) rs1553778185
NM_000055.4(BCHE):c.666_667del (p.Phe223fs) rs747983616
NM_000055.4(BCHE):c.687del (p.Ala230fs) rs1553778179
NM_000055.4(BCHE):c.757G>T (p.Gly253Ter) rs140080572
NM_000055.4(BCHE):c.793del (p.Tyr265fs) rs778568717
NM_000055.4(BCHE):c.895G>T (p.Glu299Ter) rs747196387
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer) rs1057517359
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer) rs1057517030
NM_000057.4(BLM):c.1087+1G>A rs1179486581
NM_000057.4(BLM):c.1088-1G>A rs1555419696
NM_000057.4(BLM):c.1114del (p.Ile373fs) rs1555419704
NM_000057.4(BLM):c.1151del (p.Asp384fs) rs1555419724
NM_000057.4(BLM):c.1210del (p.Arg404fs) rs1555419742
NM_000057.4(BLM):c.1220+1G>A rs1555419748
NM_000057.4(BLM):c.1221-2A>C rs1555419779
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833
NM_000057.4(BLM):c.1316del (p.Met439fs) rs1555419829
NM_000057.4(BLM):c.1399dup (p.Asp467fs) rs1555419862
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs) rs1555419873
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1549dup (p.Ser517fs) rs1555419902
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs) rs1057516361
NM_000057.4(BLM):c.1722_1725delinsGGC (p.Ala576fs) rs1057517266
NM_000057.4(BLM):c.1740del (p.Thr581fs) rs1057517432
NM_000057.4(BLM):c.1752del (p.Gln585fs) rs1555419961
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs) rs1057516956
NM_000057.4(BLM):c.1795del (p.Arg599fs) rs1057517431
NM_000057.4(BLM):c.1817_1820del (p.Asp606fs) rs1555419980
NM_000057.4(BLM):c.1883-2A>G rs1555420142
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079
NM_000057.4(BLM):c.1A>C (p.Met1Leu) rs1215497457
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324
NM_000057.4(BLM):c.2074+1G>T rs367543036
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2349_2350dup (p.Tyr784fs) rs1555420844
NM_000057.4(BLM):c.2407-1G>A rs1555420871
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019
NM_000057.4(BLM):c.2555+1G>T rs1555420917
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.4(BLM):c.2720_2726del (p.Thr907fs) rs1057516452
NM_000057.4(BLM):c.2807del (p.Asn936fs) rs1245531016
NM_000057.4(BLM):c.2821C>T (p.Gln941Ter) rs1057516700
NM_000057.4(BLM):c.2824-1G>C rs1555423062
NM_000057.4(BLM):c.2824-2A>T rs745538883
NM_000057.4(BLM):c.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.2T>C (p.Met1Thr) rs1057516593
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs) rs1555423119
NM_000057.4(BLM):c.3022del (p.Glu1008fs) rs1057516719
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs) rs1555423753
NM_000057.4(BLM):c.3305_3306del (p.His1102fs) rs1057516253
NM_000057.4(BLM):c.3400G>T (p.Gly1134Ter) rs1057516774
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.3499del (p.Ala1167fs) rs1555424305
NM_000057.4(BLM):c.3508del (p.Tyr1170fs) rs1555424311
NM_000057.4(BLM):c.3558+1G>T rs148969222
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs) rs1555424372
NM_000057.4(BLM):c.3589del (p.Ser1197fs) rs1555424376
NM_000057.4(BLM):c.3638del (p.Glu1213fs) rs1057516547
NM_000057.4(BLM):c.3667dup (p.Thr1223fs) rs1057517154
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs) rs1234064430
NM_000057.4(BLM):c.3753del (p.Glu1251fs) rs1275708646
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.3855C>A (p.Tyr1285Ter) rs1057516728
NM_000057.4(BLM):c.3874+2T>C rs1555424890
NM_000057.4(BLM):c.3875-2A>G rs150421256
NM_000057.4(BLM):c.3890del (p.Pro1297fs) rs1555425062
NM_000057.4(BLM):c.3901del (p.Leu1301fs) rs1555425063
NM_000057.4(BLM):c.3917del (p.Gly1306fs) rs764086459
NM_000057.4(BLM):c.3937G>T (p.Glu1313Ter) rs1555425074
NM_000057.4(BLM):c.3956del (p.Ile1319fs) rs1555425080
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.443dup (p.Leu148fs) rs1057516297
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.543del (p.Ser181fs) rs1555418380
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) rs367543026
NM_000057.4(BLM):c.608_609del (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.662_665del (p.Thr221fs) rs1057517229
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.942del (p.Ser315fs) rs1555418701
NM_000057.4(BLM):c.959+1_959+9del rs765061205
NM_000057.4(BLM):c.98+1G>A rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.99-1G>C rs897262346
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000059.3(BRCA2):c.1054dup (p.Tyr352fs) rs80359261
NM_000059.3(BRCA2):c.1062dup (p.Val355fs) rs1555281716
NM_000059.3(BRCA2):c.1189C>T (p.Gln397Ter) rs760815829
NM_000059.3(BRCA2):c.1753A>T (p.Lys585Ter) rs1555282048
NM_000059.3(BRCA2):c.1910-2A>T rs1228762581
NM_000059.3(BRCA2):c.2380dup (p.Met794fs) rs730881602
NM_000059.3(BRCA2):c.2689G>T (p.Glu897Ter) rs979372317
NM_000059.3(BRCA2):c.2881C>T (p.Gln961Ter) rs80358538
NM_000059.3(BRCA2):c.3076_3077del (p.Lys1026fs) rs1057517566
NM_000059.3(BRCA2):c.308dup (p.Leu103fs) rs1057517572
NM_000059.3(BRCA2):c.3167_3170del (p.Gln1056fs) rs80359372
NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs) rs80359380
NM_000059.3(BRCA2):c.3336del (p.Glu1113fs) rs398122763
NM_000059.3(BRCA2):c.3401del (p.Ser1134fs) rs1555283219
NM_000059.3(BRCA2):c.3477C>A (p.Cys1159Ter) rs431825307
NM_000059.3(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.3(BRCA2):c.3767del (p.His1256fs) rs1555283393
NM_000059.3(BRCA2):c.3774_3775del (p.Ile1258fs) rs886038094
NM_000059.3(BRCA2):c.3779T>G (p.Leu1260Ter) rs1555283397
NM_000059.3(BRCA2):c.3779dup (p.Leu1260fs) rs397507686
NM_000059.3(BRCA2):c.3859_3860del (p.Lys1286_Asn1287insTer) rs80359406
NM_000059.3(BRCA2):c.3871C>T (p.Gln1291Ter) rs80358631
NM_000059.3(BRCA2):c.3967A>T (p.Lys1323Ter) rs80358648
NM_000059.3(BRCA2):c.4058_4062del (p.Glu1353fs) rs397507322
NM_000059.3(BRCA2):c.4127_4130del (p.Gly1376fs) rs397507323
NM_000059.3(BRCA2):c.425+2T>C rs876661045
NM_000059.3(BRCA2):c.4258del (p.Asp1420fs) rs80359436
NM_000059.3(BRCA2):c.4474A>T (p.Lys1492Ter) rs1057517636
NM_000059.3(BRCA2):c.4552del (p.Glu1518fs) rs398122783
NM_000059.3(BRCA2):c.4554del (p.Glu1518fs) rs80359458
NM_000059.3(BRCA2):c.4570_4573del (p.Phe1524fs) rs1057517565
NM_000059.3(BRCA2):c.4624_4625insCG (p.Val1542fs) rs1555283876
NM_000059.3(BRCA2):c.4731del (p.Glu1577fs) rs397507740
NM_000059.3(BRCA2):c.5035del (p.Thr1679fs) rs80359477
NM_000059.3(BRCA2):c.5159C>A (p.Ser1720Ter) rs80358740
NM_000059.3(BRCA2):c.5216_5217insAATA (p.Tyr1739Ter) rs1555284111
NM_000059.3(BRCA2):c.5223dup (p.Asn1742Ter) rs1555284120
NM_000059.3(BRCA2):c.5270_5286del (p.Tyr1757fs) rs80359502
NM_000059.3(BRCA2):c.5487_5488del (p.Leu1829fs) rs1057517595
NM_000059.3(BRCA2):c.5542del (p.Ser1848fs) rs80359519
NM_000059.3(BRCA2):c.5590_5591del (p.Asp1864fs) rs886040598
NM_000059.3(BRCA2):c.5631del (p.Asn1877fs) rs397507357
NM_000059.3(BRCA2):c.5653del (p.Cys1885fs) rs886040602
NM_000059.3(BRCA2):c.5715dup (p.Asn1906Ter) rs587782901
NM_000059.3(BRCA2):c.5803delinsTT (p.Asn1935fs) rs1555284402
NM_000059.3(BRCA2):c.5925del (p.Cys1975fs) rs1555284465
NM_000059.3(BRCA2):c.6089dup (p.Asn2030fs) rs1555284538
NM_000059.3(BRCA2):c.631+1G>A rs81002897
NM_000059.3(BRCA2):c.631+2T>A rs81002899
NM_000059.3(BRCA2):c.6712_6713insGG (p.Asp2238fs) rs1555284811
NM_000059.3(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.3(BRCA2):c.6849del (p.Ser2284fs) rs761744738
NM_000059.3(BRCA2):c.6879del (p.Phe2293fs) rs886040932
NM_000059.3(BRCA2):c.6944_6947del (p.Ile2315fs) rs80359629
NM_000059.3(BRCA2):c.7008-2A>T rs81002823
NM_000059.3(BRCA2):c.71_96del (p.Asp23_Leu24insTer) rs80359637
NM_000059.3(BRCA2):c.7230del (p.Phe2410fs) 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.7525dup (p.Ser2509fs) rs80359656
NM_000059.3(BRCA2):c.764dup (p.Asn255fs) rs1555281474
NM_000059.3(BRCA2):c.7847del (p.Ser2616fs) rs80359685
NM_000059.3(BRCA2):c.793+1G>C rs81002846
NM_000059.3(BRCA2):c.7946del (p.Pro2649fs) rs863224828
NM_000059.3(BRCA2):c.7979_7991del (p.Tyr2660fs) rs730881614
NM_000059.3(BRCA2):c.8143A>T (p.Lys2715Ter) rs863224469
NM_000059.3(BRCA2):c.8145del (p.Val2716fs) rs1135401923
NM_000059.3(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.3(BRCA2):c.8332-2A>G rs587782774
NM_000059.3(BRCA2):c.8478C>A (p.Tyr2826Ter) rs776353983
NM_000059.3(BRCA2):c.8754+4A>G rs81002893
NM_000059.3(BRCA2):c.8755-1G>C rs81002812
NM_000059.3(BRCA2):c.880G>T (p.Glu294Ter) rs397508009
NM_000059.3(BRCA2):c.9148C>T (p.Gln3050Ter) rs80359170
NM_000059.3(BRCA2):c.9235del (p.Val3079fs) rs397507422
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.3(BRCA2):c.9254_9256+11del rs1555288584
NM_000059.3(BRCA2):c.9256+1G>A rs81002883
NM_000059.3(BRCA2):c.9648+1G>A rs730881573
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter) rs80358434
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter) rs80358456
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs) rs786204752
NM_000059.4(BRCA2):c.3009_3010del (p.His1003fs) rs397507300
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs) rs397507331
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.5110_5113del (p.Glu1703_Arg1704insTer) rs879254123
NM_000059.4(BRCA2):c.5851_5854del rs80359543
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.4(BRCA2):c.9699_9702del rs80359775
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1030-1G>A rs1555421263
NM_000070.3(CAPN3):c.1061T>G (p.Val354Gly) rs1555421271
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp) rs774273767
NM_000070.3(CAPN3):c.1115+1G>A rs1555421293
NM_000070.3(CAPN3):c.1194-9A>G rs374665929
NM_000070.3(CAPN3):c.1198del (p.Ser400fs) rs1555421842
NM_000070.3(CAPN3):c.1234G>T (p.Glu412Ter) rs1555421847
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556
NM_000070.3(CAPN3):c.1276_1277del (p.Leu426fs) rs1555421854
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs) rs1293496023
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly) rs776043976
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del) rs746075428
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.3(CAPN3):c.1642del (p.Arg548fs) rs1555422293
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys) rs767739787
NM_000070.3(CAPN3):c.1690_1693dup (p.Gln565fs) rs1555422298
NM_000070.3(CAPN3):c.1711del (p.Leu571fs) rs1334369407
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs) rs886042573
NM_000070.3(CAPN3):c.1801-1G>A rs886043752
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879
NM_000070.3(CAPN3):c.1858G>T (p.Glu620Ter) rs1555422839
NM_000070.3(CAPN3):c.1882del (p.Thr628fs) rs1555422847
NM_000070.3(CAPN3):c.1914+2T>C rs1555422856
NM_000070.3(CAPN3):c.1944_1945del (p.Ser648fs) rs1555422954
NM_000070.3(CAPN3):c.1948G>T (p.Glu650Ter) rs777636094
NM_000070.3(CAPN3):c.1993-1G>A rs369552114
NM_000070.3(CAPN3):c.2007T>A (p.Cys669Ter) rs1555423015
NM_000070.3(CAPN3):c.2035_2036insAAACA (p.Thr679fs) rs1555423021
NM_000070.3(CAPN3):c.2050+1del rs1555423027
NM_000070.3(CAPN3):c.2051-1G>C rs886042108
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val) rs886042557
NM_000070.3(CAPN3):c.2115+1G>A rs766917640
NM_000070.3(CAPN3):c.2115+1_2115+2dup rs760919949
NM_000070.3(CAPN3):c.212del (p.Lys71fs) rs1555417321
NM_000070.3(CAPN3):c.2184+2T>C rs1555423146
NM_000070.3(CAPN3):c.2185-2A>G rs886041335
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs) rs587780289
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.2290del (p.Asp764fs) rs886044527
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter) rs1447774727
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.3(CAPN3):c.2380+1G>T rs1555423222
NM_000070.3(CAPN3):c.2381-2A>G rs863224962
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128
NM_000070.3(CAPN3):c.2440-1G>A rs886044052
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000070.3(CAPN3):c.2T>C (p.Met1Thr) rs1555417257
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) rs797045427
NM_000070.3(CAPN3):c.369del (p.Gly124fs) rs1555420083
NM_000070.3(CAPN3):c.380-8_395del rs1555420302
NM_000070.3(CAPN3):c.402del (p.Ile135fs) rs746935735
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.580del (p.Ser194fs) rs398123149
NM_000070.3(CAPN3):c.59del (p.Pro20fs) rs1555417271
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg) rs1345121557
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.3(CAPN3):c.717del (p.Phe239fs) rs776059672
NM_000070.3(CAPN3):c.741_751del (p.Met248fs) rs1555420647
NM_000070.3(CAPN3):c.802-9G>A rs761211705
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr) rs1555420765
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986
NM_000070.3(CAPN3):c.946-1_948del rs766156798
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547
NM_000071.2(CBS):c.1007G>A (p.Arg336His) rs760417941
NM_000071.2(CBS):c.1009_1012del (p.Arg336_Met337insTer) rs1555873925
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.1136G>A (p.Arg379Gln) rs763036586
NM_000071.2(CBS):c.1218del (p.Lys406fs) rs794727083
NM_000071.2(CBS):c.1219_1223+8del rs1555872787
NM_000071.2(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.2(CBS):c.1321A>T (p.Lys441Ter) rs1057516645
NM_000071.2(CBS):c.1358+1G>A rs786204679
NM_000071.2(CBS):c.1358+2T>C rs866630296
NM_000071.2(CBS):c.1359-1G>C rs865990681
NM_000071.2(CBS):c.1468-1G>A rs1057516895
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.153_165del (p.Arg51fs) rs1555876784
NM_000071.2(CBS):c.1545del (p.Ile516fs) rs1555871095
NM_000071.2(CBS):c.1552+1G>A rs1434118781
NM_000071.2(CBS):c.1553-1G>C rs1555869979
NM_000071.2(CBS):c.1553-2A>C rs760609383
NM_000071.2(CBS):c.1566del (p.Lys523fs) rs786204466
NM_000071.2(CBS):c.1576C>T (p.Gln526Ter) rs1555869958
NM_000071.2(CBS):c.1603_1604del (p.Thr535fs) rs1555869934
NM_000071.2(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.2(CBS):c.18_36del (p.Glu9fs) rs1057516552
NM_000071.2(CBS):c.209+1G>C rs751464024
NM_000071.2(CBS):c.209+2T>C rs1555876755
NM_000071.2(CBS):c.233C>G (p.Pro78Arg) rs786204608
NM_000071.2(CBS):c.28del (p.Val10fs) rs779250698
NM_000071.2(CBS):c.302T>C (p.Leu101Pro) rs786204757
NM_000071.2(CBS):c.306G>C (p.Lys102Asn) rs786204609
NM_000071.2(CBS):c.316+1G>A rs1057516256
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.346G>A (p.Gly116Arg) rs760214620
NM_000071.2(CBS):c.362G>A (p.Arg121His) rs770095972
NM_000071.2(CBS):c.371_374dup (p.Met126fs) rs755625628
NM_000071.2(CBS):c.373C>T (p.Arg125Trp) rs886057100
NM_000071.2(CBS):c.374G>A (p.Arg125Gln) rs781444670
NM_000071.2(CBS):c.402del (p.Thr135fs) rs1057517083
NM_000071.2(CBS):c.403_404delinsG (p.Thr135fs) rs1555875325
NM_000071.2(CBS):c.430G>A (p.Glu144Lys) rs121964966
NM_000071.2(CBS):c.442G>A (p.Gly148Arg) rs755952006
NM_000071.2(CBS):c.451+1G>T rs1555875292
NM_000071.2(CBS):c.467del (p.Leu156fs) rs767036273
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.667-14_667-7del rs764160782
NM_000071.2(CBS):c.676G>A (p.Ala226Thr) rs763835246
NM_000071.2(CBS):c.689del (p.Leu230fs) rs775351239
NM_000071.2(CBS):c.707_708delinsGGTG (p.Thr236fs) rs1057517435
NM_000071.2(CBS):c.737-1G>C rs757428597
NM_000071.2(CBS):c.738delG 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.816T>A (p.Cys272Ter) rs528689432
NM_000071.2(CBS):c.829-1G>C rs1555874263
NM_000071.2(CBS):c.903C>G (p.Tyr301Ter) rs746575551
NM_000071.2(CBS):c.954+2T>G rs1555874121
NM_000071.2(CBS):c.959T>C (p.Val320Ala) rs781567152
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs) rs1555871188
NM_000077.4(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.4(CDKN2A):c.457G>T (p.Asp153Tyr) rs45476696
NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097
NM_000082.3(ERCC8):c.1042-1G>A rs897535441
NM_000082.3(ERCC8):c.1042-1G>C rs897535441
NM_000082.3(ERCC8):c.1042-2A>G rs372237310
NM_000082.3(ERCC8):c.1122+1G>A rs1482664387
NM_000082.3(ERCC8):c.173+1G>A rs1476095782
NM_000082.3(ERCC8):c.276-2A>G rs1554074597
NM_000082.3(ERCC8):c.399+1G>A rs774047625
NM_000082.3(ERCC8):c.482-2A>G rs1554073420
NM_000082.3(ERCC8):c.600dup (p.Ile201fs) rs1468231556
NM_000082.3(ERCC8):c.647_651dup (p.Arg218Ter) rs1554073177
NM_000082.3(ERCC8):c.679del (p.Asp227fs) rs1554073175
NM_000082.3(ERCC8):c.719-2A>G rs1554073117
NM_000082.3(ERCC8):c.719-2A>T rs1554073117
NM_000082.3(ERCC8):c.77+2T>G rs1554076239
NM_000082.3(ERCC8):c.843+1G>T rs1305258765
NM_000082.3(ERCC8):c.928del (p.Val310fs) rs1554072713
NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.1059C>A (p.Cys353Ter) rs1057516677
NM_000086.2(CLN3):c.1067dup (p.Val357fs) rs1555467473
NM_000086.2(CLN3):c.1116C>G (p.Tyr372Ter) rs142456044
NM_000086.2(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_000086.2(CLN3):c.125+1del rs1555469452
NM_000086.2(CLN3):c.195dup (p.Lys66fs) rs1555469159
NM_000086.2(CLN3):c.1A>G (p.Met1Val) rs386833708
NM_000086.2(CLN3):c.223-1G>A rs1555469089
NM_000086.2(CLN3):c.233dup (p.Thr80fs) rs386833712
NM_000086.2(CLN3):c.295-2A>C rs1478660606
NM_000086.2(CLN3):c.2T>C (p.Met1Thr) rs777625354
NM_000086.2(CLN3):c.46+1G>A rs1057516343
NM_000086.2(CLN3):c.46+1G>C rs1057516343
NM_000086.2(CLN3):c.47-1G>A rs1555469477
NM_000086.2(CLN3):c.533+1G>C rs386833728
NM_000086.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_000086.2(CLN3):c.677+1G>T rs1057517287
NM_000086.2(CLN3):c.683dup (p.Leu230fs) rs1057516335
NM_000086.2(CLN3):c.790+1del rs1555468374
NM_000086.2(CLN3):c.791-1G>A rs1057517350
NM_000086.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_000086.2(CLN3):c.906+2T>A rs771788391
NM_000086.2(CLN3):c.962+1G>A rs1057516267
NM_000086.2(CLN3):c.963-1G>A rs386833742
NM_000086.2(CLN3):c.963-2A>C rs1418997146
NM_000091.4(COL4A3):c.1143_1150+1del rs1274459294
NM_000091.4(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239
NM_000091.4(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.4(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.4(COL4A3):c.1370_1378del (p.Leu457_Ser459del) rs1553755767
NM_000091.4(COL4A3):c.145-2_145-1del rs1491486533
NM_000091.4(COL4A3):c.1758+1G>A rs1553757096
NM_000091.4(COL4A3):c.1806_1814del (p.603_605SPG[1]) rs1444785718
NM_000091.4(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668
NM_000091.4(COL4A3):c.1927+2T>C rs1158937060
NM_000091.4(COL4A3):c.1A>C (p.Met1Leu) rs1396602090
NM_000091.4(COL4A3):c.2065G>A (p.Gly689Arg) rs1553758919
NM_000091.4(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.4(COL4A3):c.2223+1G>A rs1553759476
NM_000091.4(COL4A3):c.2323_2340del (p.772_774LPG[1]) rs1306992119
NM_000091.4(COL4A3):c.2328_2336del (p.772_774LPG[2]) rs1553759665
NM_000091.4(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.4(COL4A3):c.2535del (p.Leu846fs) rs993103826
NM_000091.4(COL4A3):c.2747-1G>C rs1196996393
NM_000091.4(COL4A3):c.279+1G>A rs202001097
NM_000091.4(COL4A3):c.2954G>T (p.Gly985Val) rs121912827
NM_000091.4(COL4A3):c.2T>C (p.Met1Thr) rs1553725815
NM_000091.4(COL4A3):c.309_317del (p.Ser104_Gly106del) rs1553750572
NM_000091.4(COL4A3):c.3148C>T (p.Gln1050Ter) rs1553762279
NM_000091.4(COL4A3):c.3210+1G>A rs1553762314
NM_000091.4(COL4A3):c.3211-1G>C rs1553762936
NM_000091.4(COL4A3):c.325-1G>A rs762518741
NM_000091.4(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.4(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176
NM_000091.4(COL4A3):c.3751+1G>A rs781566652
NM_000091.4(COL4A3):c.388-1G>T rs1553750900
NM_000091.4(COL4A3):c.3883-2A>G rs1553765265
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513
NM_000091.4(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.4(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.4(COL4A3):c.4640+1G>A rs1553766404
NM_000091.4(COL4A3):c.468+1G>A rs1553751122
NM_000091.4(COL4A3):c.468+1G>T rs1553751122
NM_000091.4(COL4A3):c.4756-1G>A rs1553766735
NM_000091.4(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590
NM_000091.4(COL4A3):c.4802del (p.Pro1601fs) rs867868993
NM_000091.4(COL4A3):c.4803del (p.Gly1602fs) rs760846085
NM_000091.4(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749
NM_000091.4(COL4A3):c.4872C>G (p.Tyr1624Ter) rs1351781261
NM_000091.4(COL4A3):c.645+2T>C rs1553752199
NM_000091.4(COL4A3):c.713dup (p.Pro240fs) rs988439345
NM_000091.4(COL4A3):c.829-2A>C rs1553753119
NM_000091.4(COL4A3):c.890G>A (p.Gly297Glu) rs1422638161
NM_000091.4(COL4A3):c.949_950del (p.Arg317fs) rs756133651
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs) rs1553760802
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.468+1del rs1553751120
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000092.4(COL4A4):c.1029+2T>C rs1553682895
NM_000092.4(COL4A4):c.1030-2A>C rs1553681714
NM_000092.4(COL4A4):c.1033_1050del (p.Asp345_Gly350del) rs990679247
NM_000092.4(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235
NM_000092.4(COL4A4):c.114+1G>C rs1553712110
NM_000092.4(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.4(COL4A4):c.1369+1G>A rs1553676230
NM_000092.4(COL4A4):c.1405G>T (p.Gly469Ter) rs926605269
NM_000092.4(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511
NM_000092.4(COL4A4):c.1696+1G>A rs954701825
NM_000092.4(COL4A4):c.1696+1G>T rs954701825
NM_000092.4(COL4A4):c.1715G>C (p.Gly572Ala) rs1446915781
NM_000092.4(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.4(COL4A4):c.2084G>A (p.Gly695Asp) rs1553644402
NM_000092.4(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460
NM_000092.4(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.4(COL4A4):c.2320G>C rs569681869
NM_000092.4(COL4A4):c.2374G>A (p.Gly792Arg) rs768003309
NM_000092.4(COL4A4):c.2510G>C (p.Gly837Ala) rs201648982
NM_000092.4(COL4A4):c.2546-1G>C rs1553641728
NM_000092.4(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597
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.3151-2A>G rs1369097739
NM_000092.4(COL4A4):c.328-1G>A rs754669149
NM_000092.4(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357
NM_000092.4(COL4A4):c.372+2T>G rs1553696207
NM_000092.4(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.4(COL4A4):c.4002_4005dup (p.His1336fs) rs1553624127
NM_000092.4(COL4A4):c.4333+2T>C rs755927061
NM_000092.4(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.4(COL4A4):c.4623C>G (p.Tyr1541Ter) rs891854419
NM_000092.4(COL4A4):c.4679_4683del (p.Arg1560fs) rs1553612499
NM_000092.4(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.4(COL4A4):c.4809+1G>A rs1553612309
NM_000092.4(COL4A4):c.4903C>T (p.Gln1635Ter) rs1553611947
NM_000092.4(COL4A4):c.4932delinsTT (p.Ala1645fs) rs1553611909
NM_000092.4(COL4A4):c.559_562dup (p.Asp188Glyfs) rs1553690604
NM_000092.4(COL4A4):c.644_646del (p.Glu215_Pro216delinsAla) rs1553688712
NM_000092.4(COL4A4):c.657+1G>T rs1553688696
NM_000092.4(COL4A4):c.673_680del (p.Pro225fs) rs1553688330
NM_000092.4(COL4A4):c.71G>A (p.Trp24Ter) rs1201925443
NM_000092.4(COL4A4):c.871-1G>C rs375450996
NM_000092.4(COL4A4):c.975+1G>A rs1553683192
NM_000092.4(COL4A4):c.975+1G>C rs1553683192
NM_000092.5(COL4A4):c.1323_1340del rs773081522
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer) rs748473278
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000098.3(CPT2):c.1021_1024delinsTTG (p.Asn341fs) rs1553169720
NM_000098.3(CPT2):c.102C>G (p.Tyr34Ter) rs1317793581
NM_000098.3(CPT2):c.1046_1047del (p.Asn349fs) rs1553169726
NM_000098.3(CPT2):c.1046dup (p.Asn349fs) rs1057517515
NM_000098.3(CPT2):c.1053G>A (p.Trp351Ter) rs761438840
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs) rs754363068
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295
NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter) rs1057517492
NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter) rs1057517525
NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter) rs755395180
NM_000098.3(CPT2):c.1359_1362del (p.Lys453fs) rs1057517507
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) rs756931329
NM_000098.3(CPT2):c.1375C>T (p.Gln459Ter) rs1553169771
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) rs754386565
NM_000098.3(CPT2):c.1432C>T (p.Gln478Ter) rs1469108369
NM_000098.3(CPT2):c.1446_1447del (p.Val483fs) rs1553169787
NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs) rs1057517477
NM_000098.3(CPT2):c.1563del (p.Arg522fs) rs1229197873
NM_000098.3(CPT2):c.1608dup (p.Lys537fs) rs1553169813
NM_000098.3(CPT2):c.1614C>A (p.Tyr538Ter) rs1057517517
NM_000098.3(CPT2):c.1645+2T>G rs1057517473
NM_000098.3(CPT2):c.1767del (p.Ser590fs) rs1553169973
NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs) rs767004984
NM_000098.3(CPT2):c.1859G>A (p.Trp620Ter) rs1553170005
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer) rs1553170029
NM_000098.3(CPT2):c.1933dup (p.Glu645fs) rs1553170033
NM_000098.3(CPT2):c.302del (p.Ala101fs) rs1553169106
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226
NM_000098.3(CPT2):c.38del (p.Gly13fs) rs786204647
NM_000098.3(CPT2):c.401_404del (p.Phe134fs) rs1553169598
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674
NM_000098.3(CPT2):c.520G>T (p.Glu174Ter) rs28936674
NM_000098.3(CPT2):c.54_72dup (p.Leu25fs) rs1057517510
NM_000098.3(CPT2):c.606T>A (p.Tyr202Ter) rs755830520
NM_000098.3(CPT2):c.606T>G (p.Tyr202Ter) rs755830520
NM_000098.3(CPT2):c.627_630dup (p.Pro211fs) rs1553169629
NM_000098.3(CPT2):c.670del (p.Thr224fs) rs762366252
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298
NM_000098.3(CPT2):c.725del (p.His242fs) rs1553169666
NM_000098.3(CPT2):c.72_97del (p.Leu25fs) rs1553168850
NM_000098.3(CPT2):c.748_749del (p.Asn250fs) rs1187631754
NM_000098.3(CPT2):c.75del (p.Ser26fs) rs1057517493
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000098.3(CPT2):c.879_880del (p.Ser293fs) rs1195259425
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887
NM_000098.3(CPT2):c.95del (p.Gly32fs) rs1057517494
NM_000098.3(CPT2):c.989dup (p.Ile332fs) rs1553169716
NM_000098.3(CPT2):c.98del (p.Gln33fs) rs917744011
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.5(DLD):c.118+1G>T rs1554396908
NM_000108.5(DLD):c.1236+1G>T rs1554400483
NM_000108.5(DLD):c.1421del (p.Gly474fs) rs1554400699
NM_000108.5(DLD):c.1429_1432del (p.Cys477fs) rs1554400704
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs) rs1554400713
NM_000108.5(DLD):c.1520_1523del (p.Ile507fs) rs777884525
NM_000108.5(DLD):c.198+1G>A rs1554398193
NM_000108.5(DLD):c.199-1G>A rs1554398264
NM_000108.5(DLD):c.223dup (p.Thr75fs) rs1057517214
NM_000108.5(DLD):c.268-2A>G rs1554398461
NM_000108.5(DLD):c.338-2_338-1delinsT rs1554398624
NM_000108.5(DLD):c.345del (p.Val116fs) rs1554398625
NM_000108.5(DLD):c.39+1G>A rs111257462
NM_000108.5(DLD):c.633dup (p.Val212fs) rs1040811473
NM_000108.5(DLD):c.803_804del (p.Gln268fs) rs764611160
NM_000108.5(DLD):c.82del (p.Ser28fs) rs764704217
NM_000108.5(DLD):c.865dup (p.Ile289fs) rs1554400179
NM_000110.3(DPYD):c.1121del (p.Pro374fs) rs1553201443
NM_000110.3(DPYD):c.1178del (p.Pro393fs) rs1553197926
NM_000110.3(DPYD):c.1311del (p.Phe438fs) rs1057517189
NM_000110.3(DPYD):c.1316del (p.Gly439fs) rs1057516761
NM_000110.3(DPYD):c.1339+1G>T rs1057516357
NM_000110.3(DPYD):c.1340-2A>G rs1057516713
NM_000110.3(DPYD):c.1379dup (p.Leu461fs) rs779948148
NM_000110.3(DPYD):c.1518del (p.Lys505_Tyr506insTer) rs1057516615
NM_000110.3(DPYD):c.1524+1G>A rs1057517126
NM_000110.3(DPYD):c.1671del (p.Ser558fs) rs1057517018
NM_000110.3(DPYD):c.1681C>T (p.Arg561Ter) rs1057516968
NM_000110.3(DPYD):c.1727del (p.Phe576fs) rs764584080
NM_000110.3(DPYD):c.1831G>T (p.Glu611Ter) rs1057516671
NM_000110.3(DPYD):c.1863G>A (p.Trp621Ter) rs1057516388
NM_000110.3(DPYD):c.1970del (p.Ser657fs) rs1057516710
NM_000110.3(DPYD):c.2003del (p.Asn668fs) rs1057517055
NM_000110.3(DPYD):c.2039dup (p.Met680fs) rs1057517396
NM_000110.3(DPYD):c.2043_2058del (p.Leu682fs) rs773499329
NM_000110.3(DPYD):c.2058+1G>C rs769167857
NM_000110.3(DPYD):c.2178del (p.Gly727fs) rs1553251907
NM_000110.3(DPYD):c.2275C>T (p.Arg759Ter) rs759372918
NM_000110.3(DPYD):c.2286_2287insA (p.Gly763fs) rs1057516828
NM_000110.3(DPYD):c.2335_2338delinsGC (p.Thr779fs) rs1057516510
NM_000110.3(DPYD):c.2554C>T (p.Gln852Ter) rs1057517271
NM_000110.3(DPYD):c.2579del (p.Gln860fs) rs746991079
NM_000110.3(DPYD):c.2589dup (p.Pro864fs) rs1057517327
NM_000110.3(DPYD):c.2622+1G>A rs1057517095
NM_000110.3(DPYD):c.2680A>T (p.Lys894Ter) rs1057516873
NM_000110.3(DPYD):c.2722A>T (p.Lys908Ter) rs1553212596
NM_000110.3(DPYD):c.2748del (p.Arg916fs) rs1057517230
NM_000110.3(DPYD):c.2754del (p.Pro919fs) rs1057516894
NM_000110.3(DPYD):c.523del (p.Ser175fs) rs1057516997
NM_000110.3(DPYD):c.661G>T (p.Glu221Ter) rs146170505
NM_000110.3(DPYD):c.680+1G>A rs867460475
NM_000110.3(DPYD):c.762+2T>C rs1057517065
NM_000110.3(DPYD):c.763-2A>G rs1300669537
NM_000110.3(DPYD):c.851-1G>C rs1057516696
NM_000110.3(DPYD):c.910del (p.Tyr304fs) rs1057516711
NM_000110.4(DPYD):c.1041_1042del (p.Ala348fs) rs1553201476
NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs) rs749571474
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062
NM_000110.4(DPYD):c.2177_2179+1del rs1553251903
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798
NM_000112.3(SLC26A2):c.1060G>T (p.Glu354Ter) rs1057517532
NM_000112.3(SLC26A2):c.1311dup (p.Ala438fs) rs1057517471
NM_000112.3(SLC26A2):c.1338del (p.Glu447fs) rs1057517502
NM_000112.3(SLC26A2):c.1394del (p.Leu465fs) rs386833495
NM_000112.3(SLC26A2):c.1441del (p.Ser481fs) rs745774620
NM_000112.3(SLC26A2):c.1537_1541dup (p.Ile514fs) rs1057517511
NM_000112.3(SLC26A2):c.1596del (p.Val533fs) rs1554095356
NM_000112.3(SLC26A2):c.1649del (p.Lys550fs) rs1057517482
NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) rs386833497
NM_000112.3(SLC26A2):c.1764C>A (p.Tyr588Ter) rs1554095364
NM_000112.3(SLC26A2):c.1806_1809del (p.Thr603fs) rs1057517530
NM_000112.3(SLC26A2):c.1817del (p.Pro606fs) rs1554095374
NM_000112.3(SLC26A2):c.1859del (p.Lys620fs) rs1554095381
NM_000112.3(SLC26A2):c.185C>G (p.Ser62Ter) rs1057517523
NM_000112.3(SLC26A2):c.188del (p.Asp63fs) rs1057517496
NM_000112.3(SLC26A2):c.1926del (p.Leu644fs) rs1481910744
NM_000112.3(SLC26A2):c.1955_1958del (p.Asp652fs) rs1057517474
NM_000112.3(SLC26A2):c.1956_1957dup (p.Cys653fs) rs1554095395
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000112.3(SLC26A2):c.1976del (p.Phe658_Leu659insTer) rs386833499
NM_000112.3(SLC26A2):c.1982del (p.Thr661fs) rs762137330
NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val) rs104893916
NM_000112.3(SLC26A2):c.207del (p.Phe69fs) rs1057517462
NM_000112.3(SLC26A2):c.239_243dup (p.Pro82fs) rs1057517504
NM_000112.3(SLC26A2):c.325_326del (p.Leu109fs) rs1554095125
NM_000112.3(SLC26A2):c.387T>G (p.Tyr129Ter) rs1554095137
NM_000112.3(SLC26A2):c.391del (p.Leu131fs) rs786200881
NM_000112.3(SLC26A2):c.3G>T (p.Met1Ile) rs1554095084
NM_000112.3(SLC26A2):c.438del (p.Phe146fs) rs769859976
NM_000112.3(SLC26A2):c.451del (p.Tyr151fs) rs786204675
NM_000112.3(SLC26A2):c.499del (p.Val167fs) rs1554095145
NM_000112.3(SLC26A2):c.541C>T (p.Gln181Ter) rs1057517483
NM_000112.3(SLC26A2):c.611T>G (p.Leu204Ter) rs1554095156
NM_000112.3(SLC26A2):c.63_64del (p.Asp21fs) rs1554095097
NM_000112.3(SLC26A2):c.642_643del (p.Ser215fs) rs1554095167
NM_000112.3(SLC26A2):c.700-1G>C rs200963884
NM_000112.3(SLC26A2):c.700-2A>G rs1554095266
NM_000112.3(SLC26A2):c.736_739del (p.Val246fs) rs1057517524
NM_000112.3(SLC26A2):c.746C>G (p.Ser249Ter) rs1057517514
NM_000112.3(SLC26A2):c.870del (p.Thr289_Trp290insTer) rs1225601391
NM_000112.3(SLC26A2):c.918del (p.Thr307fs) rs1057517526
NM_000112.3(SLC26A2):c.922del (p.Ser308fs) rs1057517495
NM_000112.3(SLC26A2):c.925del (p.Leu309fs) rs1554095296
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del) rs121908077
NM_000112.4(SLC26A2):c.1607_1610del (p.Cys536fs) rs769657401
NM_000112.4(SLC26A2):c.1998_1999del (p.Leu667fs) rs1057517513
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs) rs763198695
NM_000112.4(SLC26A2):c.578_581del (p.Pro192_Ser193insTer) rs1554095154
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter) rs1554793270
NM_000124.4(ERCC6):c.1397+1G>C rs1554793174
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066
NM_000124.4(ERCC6):c.1526+1G>T rs371739894
NM_000124.4(ERCC6):c.1527-2A>G rs768608345
NM_000124.4(ERCC6):c.1821+1G>A rs1228919836
NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs) rs1554789393
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374
NM_000124.4(ERCC6):c.214del (p.Leu72fs) rs1554794640
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354
NM_000124.4(ERCC6):c.2169+1G>A rs1441655600
NM_000124.4(ERCC6):c.2286+1G>A rs1362935450
NM_000124.4(ERCC6):c.2287-2A>G rs754978734
NM_000124.4(ERCC6):c.2383-1G>A rs1554787554
NM_000124.4(ERCC6):c.259_260del (p.Ala87fs) rs1554794620
NM_000124.4(ERCC6):c.2829+1G>A rs1554875522
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254
NM_000124.4(ERCC6):c.3071-1G>A rs1554875287
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171
NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs) rs1287286877
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs) rs1554875155
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter) rs1554875154
NM_000124.4(ERCC6):c.3778+1G>C rs1554875114
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs) rs1386369933
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs) rs1554874073
NM_000124.4(ERCC6):c.3984-2A>G rs1554873973
NM_000124.4(ERCC6):c.4062+2T>A rs1554873950
NM_000124.4(ERCC6):c.4063-1G>C rs766980240
NM_000124.4(ERCC6):c.422+1G>A rs1198472093
NM_000124.4(ERCC6):c.422+1G>C rs1198472093
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter) rs762976316
NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer) rs1554794360
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694
NM_000124.4(ERCC6):c.544-2A>G rs1554794073
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter) rs577021605
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter) rs875989810
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs) rs1254008304
NM_000128.3(F11):c.1028+1G>A rs1316806485
NM_000128.3(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.3(F11):c.1107C>A (p.Tyr369Ter) rs773905328
NM_000128.3(F11):c.1136-7_1136-4del rs1439195599
NM_000128.3(F11):c.1186C>T (p.Arg396Cys) rs771896253
NM_000128.3(F11):c.1232_1235del (p.Thr411fs) rs1057517446
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.1305-1G>A rs1057517204
NM_000128.3(F11):c.1313C>A (p.Ser438Ter) rs786204724
NM_000128.3(F11):c.1329del (p.Val444fs) rs1554083727
NM_000128.3(F11):c.1362_1375del (p.Lys455fs) rs1554083734
NM_000128.3(F11):c.1390C>T (p.Gln464Ter) rs1057517035
NM_000128.3(F11):c.1432G>A (p.Gly478Arg) rs542967227
NM_000128.3(F11):c.1472dup (p.Asn491fs) rs1554083753
NM_000128.3(F11):c.1478C>T (p.Thr493Ile) rs1554083754
NM_000128.3(F11):c.1480+2T>C rs1554083758
NM_000128.3(F11):c.1481-1G>C rs1057516506
NM_000128.3(F11):c.1481-1G>T rs1057516506
NM_000128.3(F11):c.1556G>A (p.Trp519Ter) rs201007090
NM_000128.3(F11):c.155dup (p.Tyr52Ter) rs1554081886
NM_000128.3(F11):c.1560dup (p.Tyr521fs) rs1057516777
NM_000128.3(F11):c.1613C>T (p.Pro538Leu) rs139695003
NM_000128.3(F11):c.1620_1621dup (p.Thr541fs) rs1554084031
NM_000128.3(F11):c.166T>C (p.Cys56Arg) rs121965069
NM_000128.3(F11):c.1676_1682del (p.Ile559fs) rs1057517171
NM_000128.3(F11):c.1693G>A (p.Glu565Lys) rs281875275
NM_000128.3(F11):c.16C>T (p.Gln6Ter) rs1554081288
NM_000128.3(F11):c.1724C>A (p.Ser575Ter) rs281875250
NM_000128.3(F11):c.1778C>T (p.Thr593Met) rs145906668
NM_000128.3(F11):c.1789G>T (p.Glu597Ter) rs281875251
NM_000128.3(F11):c.218+1G>A rs1057516738
NM_000128.3(F11):c.219G>A (p.Trp73Ter) rs762013077
NM_000128.3(F11):c.25_28del (p.His9fs) rs1057516616
NM_000128.3(F11):c.291del (p.Tyr98fs) rs1057517151
NM_000128.3(F11):c.2T>A (p.Met1Lys) rs1554081281
NM_000128.3(F11):c.325G>A (p.Ala109Thr) rs768474112
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.408C>A (p.Cys136Ter) rs143648758
NM_000128.3(F11):c.486-2A>G rs1057516695
NM_000128.3(F11):c.596-7_600del rs1057517116
NM_000128.3(F11):c.644_649del (p.Ile215_Asp216del) rs1459304265
NM_000128.3(F11):c.67C>T (p.Gln23Ter) rs768409400
NM_000128.3(F11):c.682C>T (p.Arg228Ter) rs752907087
NM_000128.3(F11):c.730C>T (p.Gln244Ter) rs747702749
NM_000128.3(F11):c.751C>T (p.Gln251Ter) rs754087775
NM_000128.3(F11):c.755+2T>C rs1220869989
NM_000128.3(F11):c.769del (p.Thr259fs) rs1554082832
NM_000128.3(F11):c.865+1G>C rs1349655563
NM_000128.3(F11):c.908del (p.Gly303fs) rs786204722
NM_000128.3(F11):c.964_965del (p.Thr322fs) rs1057516431
NM_000128.3(F11):c.990del (p.Phe330fs) rs1554082938
NM_000128.3(F11):c.990dup (p.Thr331fs) rs1554082938
NM_000128.4(F11):c.1380_1383del (p.Phe460fs) rs1554083736
NM_000128.4(F11):c.961_962del (p.Cys321fs) rs786204449
NM_000135.4(FANCA):c.1006+1G>T rs1555564436
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140
NM_000135.4(FANCA):c.1470+1G>A rs1555556175
NM_000135.4(FANCA):c.1476_1477del (p.Ile493fs) rs1555554788
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter) rs1555580427
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102
NM_000135.4(FANCA):c.1777-1G>C rs755104393
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs) rs1555552006
NM_000135.4(FANCA):c.1844dup (p.Ser616fs) rs779375100
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.190-1G>T rs765277254
NM_000135.4(FANCA):c.190-2A>T rs183350210
NM_000135.4(FANCA):c.1901-1G>A rs1485075318
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
NM_000135.4(FANCA):c.1944del (p.Glu648fs) rs1555549451
NM_000135.4(FANCA):c.1A>C (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.2015-1G>A rs1555548632
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro) rs762526878
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs) rs754104046
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2151+2T>C rs937874201
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.2222+1G>C rs775388912
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099
NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer) rs1555545553
NM_000135.4(FANCA):c.2667del (p.Ser890fs) rs1555545517
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs) rs1555545421
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2853-2A>C rs947311062
NM_000135.4(FANCA):c.2910del (p.Gly972fs) rs1278836130
NM_000135.4(FANCA):c.2981+1G>A rs1555542860
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2990_2993del (p.Ser997fs) rs1555540048
NM_000135.4(FANCA):c.2T>A (p.Met1Lys) rs769479800
NM_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter) rs1439817346
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs) rs1555537347
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter) rs1381684916
NM_000135.4(FANCA):c.3610_3613del (p.Arg1204fs) rs1555536361
NM_000135.4(FANCA):c.3626+1G>T rs34885858
NM_000135.4(FANCA):c.3696del (p.Phe1232fs) rs1555535527
NM_000135.4(FANCA):c.3745del (p.Leu1249fs) rs1555535472
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.3828+1G>A rs1432988639
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3890dup (p.Arg1298fs) rs1555534060
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179
NM_000135.4(FANCA):c.3934+2T>C rs771775516
NM_000135.4(FANCA):c.3935-1G>T rs1555533693
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) rs940187828
NM_000135.4(FANCA):c.4257dup (p.Glu1420fs) rs1555532946
NM_000135.4(FANCA):c.4260+1G>A rs1060501887
NM_000135.4(FANCA):c.4260+2T>A rs1555532943
NM_000135.4(FANCA):c.513dup (p.Lys172fs) rs1555574913
NM_000135.4(FANCA):c.522+1G>T rs1365019056
NM_000135.4(FANCA):c.523-1G>T rs1477653630
NM_000135.4(FANCA):c.523-2A>G rs746518509
NM_000135.4(FANCA):c.596+2T>C rs1555573118
NM_000135.4(FANCA):c.597-1G>C rs147945881
NM_000135.4(FANCA):c.709+2T>C rs1555571116
NM_000135.4(FANCA):c.709+5G>A rs759877008
NM_000135.4(FANCA):c.710-1G>C rs1388128874
NM_000135.4(FANCA):c.79+1G>C rs1483028018
NM_000135.4(FANCA):c.80-1G>T rs751076878
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487
NM_000135.4(FANCA):c.827-1G>C rs753728435
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.894-2A>G rs976556567
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.989_995del (p.His330fs) rs1555564451
NM_000136.3(FANCC):c.-79+1G>A rs1228886763
NM_000136.3(FANCC):c.1037dup (p.Ser347fs) rs1057516248
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1072+1G>A rs1554830789
NM_000136.3(FANCC):c.1073-1G>C rs1554830249
NM_000136.3(FANCC):c.108_109dup (p.His37fs) rs1057517131
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs) rs1057516919
NM_000136.3(FANCC):c.1144del (p.Gln382fs) rs1057516313
NM_000136.3(FANCC):c.1151_1152del (p.His384fs) rs1554830220
NM_000136.3(FANCC):c.1155-1G>A rs1554829575
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs) rs1554829561
NM_000136.3(FANCC):c.117del (p.Gln40fs) rs1057517147
NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter) rs1554829555
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter) rs200719554
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625
NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter) rs1057516963
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter) rs1057516488
NM_000136.3(FANCC):c.1533+1G>C rs753885687
NM_000136.3(FANCC):c.1533+2T>C rs1057517170
NM_000136.3(FANCC):c.1534-1G>T rs1364238660
NM_000136.3(FANCC):c.1534-2A>G rs1554827166
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs) rs1554827159
NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs) rs1554827136
NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter) rs1057516455
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) rs867319477
NM_000136.3(FANCC):c.165+1del rs1554858249
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.251-2A>C rs1057517219
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter) rs1057516384
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
NM_000136.3(FANCC):c.345+1del rs1057516247
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.3G>T (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.457-1G>T rs1057516917
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.640dup (p.Ile214fs) rs1057517203
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000136.3(FANCC):c.686+1G>T rs1057517125
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter) rs776054094
NM_000136.3(FANCC):c.831del (p.Asp278fs) rs1057516792
NM_000136.3(FANCC):c.843+1G>A rs587779909
NM_000136.3(FANCC):c.843+1G>C rs587779909
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_000137.3(FAH):c.1009G>A (p.Gly337Ser) rs80338900
NM_000137.3(FAH):c.1027G>A (p.Gly343Arg) rs970505762
NM_000137.3(FAH):c.1063-2A>G rs1555442385
NM_000137.3(FAH):c.1181-1G>A rs1057516333
NM_000137.3(FAH):c.1190del (p.Gln397fs) rs786204551
NM_000137.3(FAH):c.1258T>C (p.Ter420Arg) rs1057516631
NM_000137.3(FAH):c.1258T>G (p.Ter420Gly) rs1057516631
NM_000137.3(FAH):c.14del (p.Pro5fs) rs1057517341
NM_000137.3(FAH):c.192+1G>T rs786204683
NM_000137.3(FAH):c.193-2A>G rs1555440522
NM_000137.3(FAH):c.1A>G (p.Met1Val) rs1057517972
NM_000137.3(FAH):c.2T>A (p.Met1Lys) rs1057516934
NM_000137.3(FAH):c.314+1G>A rs1057516408
NM_000137.3(FAH):c.315-2A>G rs1555440603
NM_000137.3(FAH):c.401C>A (p.Ala134Asp) rs121965074
NM_000137.3(FAH):c.438del (p.Asn146fs) rs779642226
NM_000137.3(FAH):c.455G>A (p.Trp152Ter) rs1057516679
NM_000137.3(FAH):c.456-2A>G rs1555441251
NM_000137.3(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.3(FAH):c.461_491del (p.His154fs) rs1057516684
NM_000137.3(FAH):c.492del (p.Ser165fs) rs1057517113
NM_000137.3(FAH):c.497T>G (p.Val166Gly) rs778387055
NM_000137.3(FAH):c.520C>T (p.Arg174Ter) rs781496816
NM_000137.3(FAH):c.607-1G>A rs771712041
NM_000137.3(FAH):c.615del (p.Phe205fs) rs1057517084
NM_000137.3(FAH):c.706+2T>G rs1555441597
NM_000137.3(FAH):c.744del (p.Pro249fs) rs750741137
NM_000137.3(FAH):c.81+2T>A rs772895065
NM_000137.3(FAH):c.81+2T>C rs772895065
NM_000137.3(FAH):c.82-1G>A rs1247460110
NM_000137.3(FAH):c.854_855insTGGCCCCTGCC (p.Tyr286fs) rs1555441852
NM_000137.3(FAH):c.885dup (p.Asp296Ter) rs1555441861
NM_000137.3(FAH):c.960+1G>A rs1057517201
NM_000137.3(FAH):c.961-2A>C rs1555442289
NM_000137.3(FAH):c.963C>A (p.Tyr321Ter) rs886044640
NM_000137.4(FAH):c.553+2_553+3del rs1555441272
NM_000137.4(FAH):c.780_781del (p.Pro261fs) rs1057517436
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC1):c.136del (p.Leu46fs) rs1057517227
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro) rs1057517008
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) rs764920787
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC1):c.230+1G>C rs863224023
NM_000151.4(G6PC1):c.231-1G>A rs1555559279
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter) rs142917638
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567
NM_000151.4(G6PC1):c.381C>A (p.Tyr127Ter) rs1555559741
NM_000151.4(G6PC1):c.447-1G>A rs1411037881
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu) rs1189630738
NM_000151.4(G6PC1):c.499dup (p.Cys167fs) rs1057516630
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs) rs1555558920
NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter) rs1485038937
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.707G>A (p.Trp236Ter) rs1457925404
NM_000151.4(G6PC1):c.731G>A (p.Trp244Ter) rs1555560140
NM_000151.4(G6PC1):c.798del (p.Thr267fs) rs749323139
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter) rs1057516367
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC1):c.858del (p.Lys287fs) rs1057516858
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC1):c.952_953insGT (p.Val318fs) rs1555560185
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) rs80356486
NM_000152.5(GAA):c.-32-1G>C rs1555598460
NM_000152.5(GAA):c.-32-3C>A rs1055945806
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1076-1G>A rs1555600050
NM_000152.5(GAA):c.1076-22T>G rs762260678
NM_000152.5(GAA):c.1076-2A>G rs1057516290
NM_000152.5(GAA):c.1099del (p.Trp367fs) rs1057516785
NM_000152.5(GAA):c.1115A>T (p.His372Leu) rs1057516520
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter) rs786204517
NM_000152.5(GAA):c.1165del (p.Glu389fs) rs1555600111
NM_000152.5(GAA):c.1192dup (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1194+2T>C rs1057516215
NM_000152.5(GAA):c.1195-1G>A rs1555600166
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) rs996798292
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090
NM_000152.5(GAA):c.1326+2T>C rs1434761678
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-2A>G rs1555600730
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.5(GAA):c.1552-2A>G rs1555600846
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1567del (p.Ser523fs) rs1057517267
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter) rs1057516426
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) rs201185475
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs) rs1057516826
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) rs914396317
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del) rs786204621
NM_000152.5(GAA):c.2040+1G>T rs1057516928
NM_000152.5(GAA):c.2040+1del rs1555601662
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs) rs1555601780
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2161dup (p.Glu721fs) rs1555601802
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2189+1G>T rs1209887739
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter) rs1057516327
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) rs1057516277
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter) rs1057516363
NM_000152.5(GAA):c.2242del (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2300del (p.Phe767fs) rs1555602692
NM_000152.5(GAA):c.2332-1G>C rs1555602832
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) rs1555598687
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs) rs1057516704
NM_000152.5(GAA):c.258del (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.5(GAA):c.2617dup (p.Tyr873fs) rs1555603131
NM_000152.5(GAA):c.2646+2T>A rs786204561
NM_000152.5(GAA):c.2647-1_2648del rs1555603216
NM_000152.5(GAA):c.2647-7G>A rs192679574
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter) rs1057516341
NM_000152.5(GAA):c.2706del (p.Lys903fs) rs1428358278
NM_000152.5(GAA):c.2799+2C>A rs1555603318
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503
NM_000152.5(GAA):c.2853del (p.Trp951fs) rs1555603434
NM_000152.5(GAA):c.343C>T (p.Gln115Ter) rs786204614
NM_000152.5(GAA):c.352C>T (p.Gln118Ter) rs1555598800
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661
NM_000152.5(GAA):c.376del (p.Trp126fs) rs1555598824
NM_000152.5(GAA):c.393del (p.Ser132fs) rs1057517381
NM_000152.5(GAA):c.437del (p.Met146fs) rs1555598869
NM_000152.5(GAA):c.448dup (p.Ala150fs) rs1555598880
NM_000152.5(GAA):c.471del (p.Thr158fs) rs1057517320
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000152.5(GAA):c.546G>T (p.Thr182=) rs143523371
NM_000152.5(GAA):c.55del (p.Val19fs) rs1555598544
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.5(GAA):c.692+2T>C rs1555599171
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) rs1555599586
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.755dup (p.Pro253fs) rs1555599619
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000152.5(GAA):c.766_767insC (p.Tyr256fs) rs1555599637
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.768dup (p.Ile257fs) rs1555599644
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) rs1555599667
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs) rs886043419
NM_000153.4(GALC):c.1012del (p.Glu338fs) rs1057516469
NM_000153.4(GALC):c.1021del (p.Val341fs) rs1057517382
NM_000153.4(GALC):c.1065G>A (p.Trp355Ter) rs1057516270
NM_000153.4(GALC):c.110_123dup (p.Ala42fs) rs1555384342
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731
NM_000153.4(GALC):c.1272_1273insTAG (p.Val425Ter) rs1057517372
NM_000153.4(GALC):c.1273del (p.Val425fs) rs1057516394
NM_000153.4(GALC):c.1273dup (p.Val425fs) rs1057516394
NM_000153.4(GALC):c.129C>A (p.Tyr43Ter) rs1057516816
NM_000153.4(GALC):c.129C>G (p.Tyr43Ter) rs1057516816
NM_000153.4(GALC):c.1338+1G>C rs1555379669
NM_000153.4(GALC):c.141_143delinsG (p.Asp47fs) rs1555384335
NM_000153.4(GALC):c.1426dup (p.Ser476fs) rs1057517082
NM_000153.4(GALC):c.155del (p.Gly52fs) rs1064793131
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys) rs749893889
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754
NM_000153.4(GALC):c.1670+1G>A rs749597090
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer) rs1555378701
NM_000153.4(GALC):c.1763del (p.Ile587_Leu588insTer) rs751283440
NM_000153.4(GALC):c.1835-1G>A rs1555378562
NM_000153.4(GALC):c.1837G>T (p.Gly613Ter) rs1057517033
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer) rs1057516433
NM_000153.4(GALC):c.1884dup (p.Trp629fs) rs1336726861
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) rs1057516453
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs) rs749708827
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer) rs1555378534
NM_000153.4(GALC):c.190_195+9del rs1057517187
NM_000153.4(GALC):c.1911+1_1911+5del rs777955784
NM_000153.4(GALC):c.1912-1G>C rs1555377947
NM_000153.4(GALC):c.195+1G>A rs1009872980
NM_000153.4(GALC):c.195+1G>C rs1009872980
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.4(GALC):c.1978A>T (p.Lys660Ter) rs762034337
NM_000153.4(GALC):c.1A>G (p.Met1Val) rs1555384382
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145
NM_000153.4(GALC):c.222C>G (p.Tyr74Ter) rs959445153
NM_000153.4(GALC):c.2T>A (p.Met1Lys) rs780972896
NM_000153.4(GALC):c.2T>C (p.Met1Thr) rs780972896
NM_000153.4(GALC):c.328+1G>T rs779701490
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter) rs1240965365
NM_000153.4(GALC):c.388G>A (p.Glu130Lys) rs374635469
NM_000153.4(GALC):c.3G>A (p.Met1Ile) rs758685128
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000153.4(GALC):c.415A>T (p.Lys139Ter) rs1057516673
NM_000153.4(GALC):c.433dup (p.Thr145fs) rs1555383679
NM_000153.4(GALC):c.442+2T>G rs1057516632
NM_000153.4(GALC):c.467_468dup (p.Leu157fs) rs1057517185
NM_000153.4(GALC):c.489G>A (p.Trp163Ter) rs761550284
NM_000153.4(GALC):c.49_50del (p.Met17fs) rs1555384360
NM_000153.4(GALC):c.521del (p.Tyr174fs) rs1555383517
NM_000153.4(GALC):c.533G>A (p.Trp178Ter) rs968905231
NM_000153.4(GALC):c.583-1G>C rs1555383310
NM_000153.4(GALC):c.591dup (p.Glu198Ter) rs1555383308
NM_000153.4(GALC):c.599C>A (p.Ser200Ter) rs786204618
NM_000153.4(GALC):c.621+1G>A rs759511006
NM_000153.4(GALC):c.621+5G>A rs1555383306
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.4(GALC):c.7dup (p.Glu3fs) rs1555384381
NM_000153.4(GALC):c.827_828del (p.Asp275_Phe276insTer) rs1555381958
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983
NM_000153.4(GALC):c.884A>C (p.Asn295Thr) rs746922378
NM_000153.4(GALC):c.908+1G>A rs750524447
NM_000153.4(GALC):c.908+1G>T rs750524447
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952
NM_000153.4(GALC):c.946C>T (p.Gln316Ter) rs776368825
NM_000153.4(GALC):c.952C>G (p.Pro318Ala) rs1057516642
NM_000153.4(GALC):c.955del (p.Tyr319fs) rs786204454
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer) rs1057516808
NM_000153.4(GALC):c.9del (p.Glu3fs) rs1555384380
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter) rs1026685248
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs) rs771067891
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491
NM_000154.2(GALK1):c.1A>C (p.Met1Leu) rs1311294794
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.612-1G>A rs1555748556
NM_000154.2(GALK1):c.689_711dup (p.Val238fs) rs1555748534
NM_000154.2(GALK1):c.79G>T (p.Glu27Ter) rs1555748940
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000154.2(GALK1):c.944+1G>T rs113464656
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1048del (p.Thr350fs) rs775762045
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.4(GALT):c.1059+1G>T rs1554709516
NM_000155.4(GALT):c.1060-1G>A rs367543268
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys) rs111033827
NM_000155.4(GALT):c.132del (p.Ser45fs) rs1554709139
NM_000155.4(GALT):c.14_23dup (p.Gln9fs) rs1554709110
NM_000155.4(GALT):c.164del (p.Gly55fs) rs1554709146
NM_000155.4(GALT):c.180del (p.Gln60fs) rs1554709148
NM_000155.4(GALT):c.189dup (p.Thr64fs) rs1554709151
NM_000155.4(GALT):c.18del (p.Asp7fs) rs111033638
NM_000155.4(GALT):c.238C>T (p.Arg80Ter) rs111033664
NM_000155.4(GALT):c.25C>T (p.Gln9Ter) rs111033848
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.307C>T (p.Gln103Ter) rs1225091358
NM_000155.4(GALT):c.378-2A>T rs1554709280
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.4(GALT):c.404C>G (p.Ser135Trp) rs111033690
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs) rs111033634
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.4(GALT):c.502G>A (p.Val168Met) rs367543258
NM_000155.4(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.4(GALT):c.513dup (p.Glu172Ter) rs886044409
NM_000155.4(GALT):c.561_564+9del rs1554709342
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.564+1G>T rs111033723
NM_000155.4(GALT):c.565-2A>G rs111033731
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter) rs1057516720
NM_000155.4(GALT):c.634C>T (p.Gln212Ter) rs111033746
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) rs111033742
NM_000155.4(GALT):c.670del (p.Gln224fs) rs1057516883
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.83-2A>G rs1057517415
NM_000155.4(GALT):c.912dup (p.Thr305fs) rs746285782
NM_000155.4(GALT):c.938G>A (p.Trp313Ter) rs1410159094
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794
NM_000155.4(GALT):c.979_986del (p.Leu327fs) rs1554709502
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808
NM_000157.4(GBA):c.1343A>T (p.Asp448Val) rs77369218
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser) rs768925619
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694
NM_000159.4(GCDH):c.1082+1G>T rs1555751109
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141
NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala) rs778153326
NM_000159.4(GCDH):c.1173del (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1173dup (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter) rs776082304
NM_000159.4(GCDH):c.1239C>G (p.Tyr413Ter) rs776082304
NM_000159.4(GCDH):c.1244-2A>G rs199999619
NM_000159.4(GCDH):c.1317A>G (p.Ter439Trp) rs1555751995
NM_000159.4(GCDH):c.172G>T (p.Glu58Ter) rs1006150317
NM_000159.4(GCDH):c.192G>T (p.Glu64Asp) rs1555749239
NM_000159.4(GCDH):c.198del (p.Ile67fs) rs1057517088
NM_000159.4(GCDH):c.1A>C (p.Met1Leu) rs1197426645
NM_000159.4(GCDH):c.219del (p.Tyr74fs) rs1057516521
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter) rs898043081
NM_000159.4(GCDH):c.271+1G>A rs786204639
NM_000159.4(GCDH):c.272-2A>C rs1555749369
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg) rs1273164833
NM_000159.4(GCDH):c.329_332del (p.Ile110fs) rs1555749434
NM_000159.4(GCDH):c.334G>T (p.Gly112Ter) rs758137643
NM_000159.4(GCDH):c.337T>C (p.Tyr113His) rs1555749853
NM_000159.4(GCDH):c.339T>G (p.Tyr113Ter) rs768836114
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu) rs886043840
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln) rs200639270
NM_000159.4(GCDH):c.3G>A (p.Met1Ile) rs1230368107
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890
NM_000159.4(GCDH):c.505+1_505+8del rs1057516855
NM_000159.4(GCDH):c.514G>T (p.Glu172Ter) rs1057516715
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg) rs749452002
NM_000159.4(GCDH):c.533G>A (p.Gly178Glu) rs786204627
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354
NM_000159.4(GCDH):c.636-1G>A rs398123195
NM_000159.4(GCDH):c.646_649dup (p.Pro217fs) rs1555750542
NM_000159.4(GCDH):c.665_668del (p.Leu221_Phe222insTer) rs1057516899
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) rs786205862
NM_000159.4(GCDH):c.727_730dup (p.Gly244fs) rs1555750580
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu) rs1057516344
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430
NM_000159.4(GCDH):c.79del (p.Ala27fs) rs1057516939
NM_000159.4(GCDH):c.80_81del (p.Ala27fs) rs1057516522
NM_000159.4(GCDH):c.848del (p.Leu283fs) rs761491320
NM_000159.4(GCDH):c.853-2A>G rs1057517410
NM_000159.4(GCDH):c.873del (p.Asn291fs) rs1057517407
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr) rs761765983
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter) rs794726972
NM_000169.2(GLA):c.244A>T (p.Lys82Ter) rs1057516429
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000170.2(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.2(GLDC):c.1108C>T (p.Gln370Ter) rs570097430
NM_000170.2(GLDC):c.1194C>A (p.Tyr398Ter) rs1226098656
NM_000170.2(GLDC):c.128del (p.Asp43fs) rs1251443902
NM_000170.2(GLDC):c.1342G>T (p.Glu448Ter) rs777365335
NM_000170.2(GLDC):c.1382G>A (p.Arg461Gln) rs386833524
NM_000170.2(GLDC):c.1401+1G>A rs1211616091
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1642C>G (p.Leu548Val) rs1554646653
NM_000170.2(GLDC):c.1652G>T (p.Ser551Ile) rs751822565
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.1850+1G>T rs774099283
NM_000170.2(GLDC):c.2081_2088del (p.Ala694fs) rs1196401015
NM_000170.2(GLDC):c.2281G>A (p.Gly761Arg) rs386833549
NM_000170.2(GLDC):c.2311G>A (p.Gly771Arg) rs386833553
NM_000170.2(GLDC):c.2315+2T>A rs1554643738
NM_000170.2(GLDC):c.2317A>T (p.Lys773Ter) rs373618804
NM_000170.2(GLDC):c.23G>A (p.Trp8Ter) rs1477860542
NM_000170.2(GLDC):c.2458-1G>T rs1554643370
NM_000170.2(GLDC):c.2458-2A>G rs1259354298
NM_000170.2(GLDC):c.2481_2484del (p.Gln828fs) rs766762760
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.2665+1G>C rs149070244
NM_000170.2(GLDC):c.2666-1G>A rs1429861000
NM_000170.2(GLDC):c.2838+2T>C rs1554641887
NM_000170.2(GLDC):c.2888dup (p.Tyr964fs) rs1554641737
NM_000170.2(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg) rs1406713104
NM_000170.2(GLDC):c.334+1G>C rs978795483
NM_000170.2(GLDC):c.335-1G>C rs1554649675
NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) rs191905539
NM_000170.2(GLDC):c.4C>T (p.Gln2Ter) rs1554652870
NM_000170.2(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.2(GLDC):c.806C>T (p.Thr269Met) rs386833587
NM_000170.2(GLDC):c.847G>C (p.Ala283Pro) rs386833589
NM_000170.2(GLDC):c.911C>T (p.Pro304Leu) rs1207147043
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs) rs772068893
NM_000179.2(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2692_2693del (p.Asn897_Pro898insTer) rs1553414029
NM_000179.2(MSH6):c.309C>A (p.Tyr103Ter) rs1553410230
NM_000179.2(MSH6):c.3215_3222del (p.Gly1072fs) rs1057517552
NM_000179.2(MSH6):c.3371dup (p.Asn1124fs) rs1553331659
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.3757_3767del (p.Val1253fs) rs1553333093
NM_000179.2(MSH6):c.3837_3843del (p.Ser1279fs) rs1553333370
NM_000179.2(MSH6):c.908dup (p.Met303fs) rs1057517551
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000182.5(HADHA):c.1052del (p.Lys351fs) rs1057516556
NM_000182.5(HADHA):c.1086-3_1092del rs1057516460
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) rs137852770
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049
NM_000182.5(HADHA):c.1202del (p.Gln401fs) rs1057517087
NM_000182.5(HADHA):c.1221-1G>C rs1057516233
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter) rs1057516461
NM_000182.5(HADHA):c.129dup (p.Gly44fs) rs1298883200
NM_000182.5(HADHA):c.1344_1345del (p.Val448_Phe449insTer) rs1057516734
NM_000182.5(HADHA):c.1479+1G>T rs1290945516
NM_000182.5(HADHA):c.1590del (p.Lys531fs) rs1057516991
NM_000182.5(HADHA):c.1620+2_1620+6del rs764557236
NM_000182.5(HADHA):c.1690-2A>G rs1057516217
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.180+3A>G rs781222705
NM_000182.5(HADHA):c.1811del (p.Gly604fs) rs747985669
NM_000182.5(HADHA):c.1814_1815del (p.Lys605fs) rs1553312033
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs) rs1057517397
NM_000182.5(HADHA):c.1959dup (p.Ser654Ter) rs1553311804
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) rs779113356
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.1A>G (p.Met1Val) rs1057517430
NM_000182.5(HADHA):c.2000+1G>C rs1167218743
NM_000182.5(HADHA):c.2026del (p.Arg676fs) rs1553311716
NM_000182.5(HADHA):c.2059del (p.Met687fs) rs1553311706
NM_000182.5(HADHA):c.2071G>T (p.Glu691Ter) rs1057517132
NM_000182.5(HADHA):c.2146+1G>A rs794727219
NM_000182.5(HADHA):c.2146+2T>C rs1057516350
NM_000182.5(HADHA):c.2220T>A (p.Tyr740Ter) rs142120825
NM_000182.5(HADHA):c.2222del (p.Gly741fs) rs1553311647
NM_000182.5(HADHA):c.2227_2228del (p.Gln743fs) rs1553311645
NM_000182.5(HADHA):c.240G>A (p.Trp80Ter) rs1057516326
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000182.5(HADHA):c.315-1G>A rs1458898996
NM_000182.5(HADHA):c.3G>A (p.Met1Ile) rs1237270916
NM_000182.5(HADHA):c.453+1G>A rs1057516417
NM_000182.5(HADHA):c.515del (p.Pro172fs) rs1057517282
NM_000182.5(HADHA):c.64C>T (p.Arg22Ter) rs1300516636
NM_000182.5(HADHA):c.677-1G>A rs1553314070
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) rs786204607
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer) rs1553316176
NM_000182.5(HADHA):c.800-1G>T rs1553314024
NM_000182.5(HADHA):c.800-1_801del rs1553314023
NM_000182.5(HADHA):c.844_845insA (p.Val282fs) rs774235292
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(HADHA):c.919-2A>G rs200017313
NM_000187.3(HGD):c.652delG (p.Ala218Profs) rs786204662
NM_000187.4(HGD):c.1064dup (p.Gly356fs) rs1057516847
NM_000187.4(HGD):c.1188+1G>T rs760206323
NM_000187.4(HGD):c.11T>A (p.Leu4Ter) rs786204422
NM_000187.4(HGD):c.1201G>C (p.Glu401Gln) rs767159114
NM_000187.4(HGD):c.1336T>C (p.Ter446Arg) rs143370662
NM_000187.4(HGD):c.15+1G>A rs552207335
NM_000187.4(HGD):c.158G>A (p.Arg53Gln) rs200808744
NM_000187.4(HGD):c.177-1G>A rs1057517370
NM_000187.4(HGD):c.179G>A (p.Trp60Ter) rs1057516467
NM_000187.4(HGD):c.31_32delinsATT (p.Gly11fs) rs1057516362
NM_000187.4(HGD):c.339_342+2del rs1057516662
NM_000187.4(HGD):c.342+1G>A rs397515518
NM_000187.4(HGD):c.342+1G>T rs397515518
NM_000187.4(HGD):c.346del (p.Leu116fs) rs1057516911
NM_000187.4(HGD):c.365C>T (p.Ala122Val) rs544956641
NM_000187.4(HGD):c.376_377del (p.Lys126fs) rs1057516976
NM_000187.4(HGD):c.390del (p.Ala132fs) rs1057516352
NM_000187.4(HGD):c.3G>C (p.Met1Ile) rs1057516355
NM_000187.4(HGD):c.409del (p.Leu137fs) rs1057516921
NM_000187.4(HGD):c.58del (p.Arg20fs) rs1057516849
NM_000187.4(HGD):c.649+2T>C rs1057516307
NM_000187.4(HGD):c.674G>A (p.Arg225His) rs562853291
NM_000187.4(HGD):c.781dup (p.Ser261fs) rs1057517418
NM_000187.4(HGD):c.879+1G>A rs1553716979
NM_000187.4(HGD):c.899T>G (p.Val300Gly) rs120074170
NM_000187.4(HGD):c.956del (p.Pro319fs) rs1057517089
NM_000187.4(HGD):c.970dup (p.Val324fs) rs34214309
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915
NM_000191.3(HMGCL):c.121dup (p.Arg41fs) rs1553133042
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter) rs890995574
NM_000191.3(HMGCL):c.286del (p.Gln96fs) rs1184002840
NM_000191.3(HMGCL):c.3G>T (p.Met1Ile) rs1302190999
NM_000191.3(HMGCL):c.413del (p.Asn138fs) rs1553132520
NM_000191.3(HMGCL):c.501C>G (p.Tyr167Ter) rs200189529
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter) rs112508527
NM_000191.3(HMGCL):c.528T>G (p.Tyr176Ter) rs112508527
NM_000191.3(HMGCL):c.562-2A>G rs1553131955
NM_000191.3(HMGCL):c.60+1G>T rs1324641233
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000191.3(HMGCL):c.804C>A (p.Tyr268Ter) rs765198174
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter) rs1425615804
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter) rs1424242431
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.Arg382_His383insGlnArg) rs398123244
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter) rs1323958195
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter) rs1555620141
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1429del (p.Asp477fs) rs781572815
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189
NM_000199.5(SGSH):c.216del (p.Ser73fs) rs1555622888
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006
NM_000199.5(SGSH):c.28_37del (p.Cys9_Ala10insTer) rs1555624111
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868
NM_000199.5(SGSH):c.356-1G>A rs1555621984
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638
NM_000199.5(SGSH):c.54C>A (p.Cys18Ter) rs1555624080
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370
NM_000199.5(SGSH):c.664-1G>T rs1555621425
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu) rs745884647
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys) rs746766617
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del) rs1230096882
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) rs754949360
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896
NM_000203.5(IDUA):c.1190-2A>T rs994902207
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs) rs1445719596
NM_000203.5(IDUA):c.1402+1G>A rs398123254
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs) rs761793564
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu) rs772416503
NM_000203.5(IDUA):c.1524+1G>T rs1553917483
NM_000203.5(IDUA):c.159-1G>A rs1553914935
NM_000203.5(IDUA):c.1591del (p.Arg531fs) rs1553917558
NM_000203.5(IDUA):c.1602del (p.Leu535fs) rs1553917566
NM_000203.5(IDUA):c.1650+1G>A rs1434521185
NM_000203.5(IDUA):c.1650+2C>G rs1553917580
NM_000203.5(IDUA):c.1650+5G>A rs398123256
NM_000203.5(IDUA):c.1728-2A>G rs1553917699
NM_000203.5(IDUA):c.1828+1G>C rs919151683
NM_000203.5(IDUA):c.1829-1G>A rs745915863
NM_000203.5(IDUA):c.1829-2A>G rs1553917733
NM_000203.5(IDUA):c.1832_1833del (p.Thr611fs) rs1553917735
NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs) rs1553917737
NM_000203.5(IDUA):c.1867del (p.Leu623fs) rs1553917747
NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs) rs1553917746
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.1897del (p.Ser633fs) rs1553917756
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240
NM_000203.5(IDUA):c.299+1G>T rs398123259
NM_000203.5(IDUA):c.300-1G>A rs1553916890
NM_000203.5(IDUA):c.3G>A (p.Met1Ile) rs1553914740
NM_000203.5(IDUA):c.488dup (p.Tyr163Ter) rs1553916950
NM_000203.5(IDUA):c.493+1G>A rs1553916957
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) rs776098539
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000203.5(IDUA):c.542dup (p.Asn181fs) rs1553917044
NM_000203.5(IDUA):c.589+1G>A rs1293215555
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) rs1553914762
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp) rs1430681871
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453
NM_000203.5(IDUA):c.793-1G>A rs762779421
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter) rs1553917192
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup) rs779762183
NM_000227.5(LAMA3):c.1009+2T>C rs1057516584
NM_000227.5(LAMA3):c.1439C>G (p.Ser480Ter) rs1555732032
NM_000227.5(LAMA3):c.1491+2T>C rs1057516280
NM_000227.5(LAMA3):c.1550_1553del (p.Val517fs) rs1555732431
NM_000227.5(LAMA3):c.1645G>T (p.Glu549Ter) rs1555732528
NM_000227.5(LAMA3):c.1678del (p.Val560fs) rs1057516476
NM_000227.5(LAMA3):c.1881_1884delinsCCT (p.Lys627fs) rs1057517196
NM_000227.5(LAMA3):c.1892-2A>G rs1555734356
NM_000227.5(LAMA3):c.1A>T (p.Met1Leu) rs747547191
NM_000227.5(LAMA3):c.2009-2A>G rs1555734513
NM_000227.5(LAMA3):c.2227A>T (p.Lys743Ter) rs765104557
NM_000227.5(LAMA3):c.222del (p.Cys75fs) rs752030611
NM_000227.5(LAMA3):c.2248C>T (p.Gln750Ter) rs1555735252
NM_000227.5(LAMA3):c.2331+1G>A rs1057516279
NM_000227.5(LAMA3):c.2338del (p.Val780fs) rs1555736532
NM_000227.5(LAMA3):c.2392del (p.Leu798fs) rs1555736608
NM_000227.5(LAMA3):c.2516_2519del (p.Tyr839fs) rs1555737473
NM_000227.5(LAMA3):c.2525del (p.Met842fs) rs1555737509
NM_000227.5(LAMA3):c.2634_2654+17del rs1555737629
NM_000227.5(LAMA3):c.2662C>T (p.Gln888Ter) rs1555737779
NM_000227.5(LAMA3):c.285+1G>A rs1057517023
NM_000227.5(LAMA3):c.285+1G>T rs1057517023
NM_000227.5(LAMA3):c.285+2T>G rs1555721815
NM_000227.5(LAMA3):c.2850del (p.Gly951fs) rs1057516605
NM_000227.5(LAMA3):c.286-2A>G rs1057516475
NM_000227.5(LAMA3):c.2993del (p.Gly998fs) rs1356353167
NM_000227.5(LAMA3):c.2T>C (p.Met1Thr) rs1555720521
NM_000227.5(LAMA3):c.3001C>T (p.Arg1001Ter) rs768415785
NM_000227.5(LAMA3):c.3216+2T>C rs1555740717
NM_000227.5(LAMA3):c.3217-1G>T rs141789403
NM_000227.5(LAMA3):c.3254G>A (p.Trp1085Ter) rs1555740945
NM_000227.5(LAMA3):c.325del (p.Cys109fs) rs1057517235
NM_000227.5(LAMA3):c.3275del (p.Asn1092fs) rs1555740963
NM_000227.5(LAMA3):c.3350+2T>G rs786204732
NM_000227.5(LAMA3):c.3376C>T (p.Arg1126Ter) rs774133746
NM_000227.5(LAMA3):c.3465G>A (p.Trp1155Ter) rs1555743454
NM_000227.5(LAMA3):c.3468+2T>C rs1555743457
NM_000227.5(LAMA3):c.3609G>A (p.Trp1203Ter) rs1057516764
NM_000227.5(LAMA3):c.370dup (p.Ala124fs) rs1555724066
NM_000227.5(LAMA3):c.3749+1G>A rs1555744805
NM_000227.5(LAMA3):c.3749+2T>G rs1555744812
NM_000227.5(LAMA3):c.378del (p.Cys127fs) rs1057517367
NM_000227.5(LAMA3):c.3799_3800insC (p.Lys1267fs) rs1555745207
NM_000227.5(LAMA3):c.3837_3846dup (p.Phe1283fs) rs1555745263
NM_000227.5(LAMA3):c.3881+1G>T rs754558574
NM_000227.5(LAMA3):c.3881+2T>G rs1555745317
NM_000227.5(LAMA3):c.394A>G (p.Ser132Gly) rs1555724108
NM_000227.5(LAMA3):c.3959T>G (p.Leu1320Ter) rs1401574168
NM_000227.5(LAMA3):c.4000del (p.Arg1334fs) rs1555746079
NM_000227.5(LAMA3):c.4064dup (p.Arg1356fs) rs34754160
NM_000227.5(LAMA3):c.4114C>T (p.Gln1372Ter) rs772038362
NM_000227.5(LAMA3):c.4144dup (p.Asp1382fs) rs1057517211
NM_000227.5(LAMA3):c.4287T>G (p.Tyr1429Ter) rs1555751423
NM_000227.5(LAMA3):c.42G>A (p.Trp14Ter) rs900100444
NM_000227.5(LAMA3):c.4349del (p.Ser1450fs) rs1555751482
NM_000227.5(LAMA3):c.4375del (p.Trp1459fs) rs1555751529
NM_000227.5(LAMA3):c.4525-1G>C rs1057517272
NM_000227.5(LAMA3):c.4573del (p.Asp1525fs) rs1555754450
NM_000227.5(LAMA3):c.4685-1G>T rs1555754655
NM_000227.5(LAMA3):c.4748del (p.Thr1583fs) rs1057517440
NM_000227.5(LAMA3):c.4909+1G>C rs1234435123
NM_000227.5(LAMA3):c.584-2_584-1delinsGA rs1555728297
NM_000227.5(LAMA3):c.634+1G>A rs1555728319
NM_000227.5(LAMA3):c.767_770del (p.Thr256fs) rs1555728701
NM_000227.5(LAMA3):c.861dup (p.Asp288Ter) rs1057517314
NM_000227.5(LAMA3):c.91C>T (p.Gln31Ter) rs1057516512
NM_000227.5(LAMA3):c.955C>T (p.Gln319Ter) rs1555730209
NM_000228.3(LAMB3):c.1007del (p.Gln336fs) rs1057517395
NM_000228.3(LAMB3):c.1029T>A (p.Cys343Ter) rs1057516316
NM_000228.3(LAMB3):c.1029_1030dup (p.Asp344fs) rs1057517290
NM_000228.3(LAMB3):c.1065_1066del (p.Cys355_Glu356delinsTer) rs1553277686
NM_000228.3(LAMB3):c.1283_1288+14del rs1553277432
NM_000228.3(LAMB3):c.1288+1G>A rs1186161867
NM_000228.3(LAMB3):c.1288+1G>T rs1186161867
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) rs769967565
NM_000228.3(LAMB3):c.1486-1G>A rs1418276828
NM_000228.3(LAMB3):c.1597+1G>T rs1553277072
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805
NM_000228.3(LAMB3):c.1823dup (p.Ser608fs) rs1057516219
NM_000228.3(LAMB3):c.183+2T>C rs1553281291
NM_000228.3(LAMB3):c.2011del (p.Leu671fs) rs1057516822
NM_000228.3(LAMB3):c.2108_2127del (p.Gln702_Phe703insTer) rs1553276488
NM_000228.3(LAMB3):c.2170C>T (p.Gln724Ter) rs1057517207
NM_000228.3(LAMB3):c.2182del (p.Ala728fs) rs1553276430
NM_000228.3(LAMB3):c.225_226del (p.His75fs) rs886045870
NM_000228.3(LAMB3):c.2288del (p.Gly763fs) rs886041893
NM_000228.3(LAMB3):c.2346del (p.Thr783fs) rs1057516486
NM_000228.3(LAMB3):c.2358+2T>C rs1057516838
NM_000228.3(LAMB3):c.2362_2372del (p.Cys788fs) rs1375506940
NM_000228.3(LAMB3):c.2396dup (p.Ser800fs) rs1553276268
NM_000228.3(LAMB3):c.2516del (p.Leu839fs) rs1553276216
NM_000228.3(LAMB3):c.2556+1G>A rs1178041263
NM_000228.3(LAMB3):c.2701+1G>A rs1553276110
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_000228.3(LAMB3):c.29-2A>G rs371267954
NM_000228.3(LAMB3):c.298+2T>C rs1057517312
NM_000228.3(LAMB3):c.3024del (p.Arg1009fs) rs777292177
NM_000228.3(LAMB3):c.3034C>T (p.Gln1012Ter) rs1057516756
NM_000228.3(LAMB3):c.3052-1G>A rs774472247
NM_000228.3(LAMB3):c.308del (p.Pro103fs) rs1553279073
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter) rs1057516759
NM_000228.3(LAMB3):c.3250_3251del (p.Lys1084fs) rs1553275219
NM_000228.3(LAMB3):c.3517_3518del (p.Ter1173MetextTer?) rs1057516400
NM_000228.3(LAMB3):c.372+1G>C rs1553279044
NM_000228.3(LAMB3):c.372+2T>G rs1057516675
NM_000228.3(LAMB3):c.373-2A>G rs1057517258
NM_000228.3(LAMB3):c.463dup (p.Ser155fs) rs776537364
NM_000228.3(LAMB3):c.499_500del (p.Ser167fs) rs1057516241
NM_000228.3(LAMB3):c.505C>T (p.Gln169Ter) rs1057516399
NM_000228.3(LAMB3):c.561del (p.Lys188fs) rs1057516947
NM_000228.3(LAMB3):c.565-1G>T rs1057516693
NM_000228.3(LAMB3):c.565-2A>C rs370148688
NM_000228.3(LAMB3):c.628+1G>A rs1057516539
NM_000228.3(LAMB3):c.69_70del (p.Ala25fs) rs1057516884
NM_000228.3(LAMB3):c.823-1G>T rs778372285
NM_000228.3(LAMB3):c.870T>A (p.Cys290Ter) rs1057516809
NM_000228.3(LAMB3):c.920del (p.Gly307fs) rs1057516249
NM_000228.3(LAMB3):c.943+2T>A rs1464038626
NM_000228.3(LAMB3):c.977del (p.His326fs) rs753711190
NM_000228.3(LAMB3):c.978del (p.Phe327fs) rs763559509
NM_000231.2(SGCG):c.133del (p.Ile45fs) rs1555234799
NM_000231.2(SGCG):c.186G>A (p.Trp62Ter) rs1555234810
NM_000231.2(SGCG):c.195+1G>C rs200502077
NM_000231.2(SGCG):c.195+4_195+7del rs797045106
NM_000231.2(SGCG):c.298-2A>C rs1555240119
NM_000231.2(SGCG):c.385+2T>A rs200206447
NM_000231.2(SGCG):c.386-1G>A rs913248720
NM_000231.2(SGCG):c.578+1G>C rs1555245353
NM_000231.2(SGCG):c.579-2A>G rs754415994
NM_000231.2(SGCG):c.581T>C (p.Leu194Ser) rs547818652
NM_000231.2(SGCG):c.591dup (p.Thr198fs) rs1555247973
NM_000231.2(SGCG):c.702+1G>A rs1555248000
NM_000231.2(SGCG):c.721del (p.Thr241fs) rs1555248289
NM_000231.2(SGCG):c.768del (p.Ser257fs) rs1199421806
NM_000231.3(SGCG):c.727_728del (p.Cys243fs) rs758078849
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423
NM_000231.3(SGCG):c.800_801del (p.Cys267fs) rs780348174
NM_000232.4(SGCB):c.-15_8del (p.Met1fs) rs1057517205
NM_000232.4(SGCB):c.216_219del (p.Phe73fs) rs1057516360
NM_000232.4(SGCB):c.243+1G>T rs1553940663
NM_000232.4(SGCB):c.243+2T>G rs1553940661
NM_000232.4(SGCB):c.271C>T (p.Arg91Cys) rs555514820
NM_000232.4(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.4(SGCB):c.29_33del (p.Glu10fs) rs1057517064
NM_000232.4(SGCB):c.33+1G>A rs1553940957
NM_000232.4(SGCB):c.334C>T (p.Gln112Ter) rs1553940262
NM_000232.4(SGCB):c.551_552del (p.Asp183_Tyr184insTer) rs1057517051
NM_000232.4(SGCB):c.552T>G (p.Tyr184Ter) rs104893868
NM_000232.4(SGCB):c.595_598del (p.Asn199fs) rs762114570
NM_000232.4(SGCB):c.621+1G>T rs1264362642
NM_000232.4(SGCB):c.622-2A>G rs780596734
NM_000232.4(SGCB):c.650del (p.Asn217fs) rs1553940079
NM_000232.4(SGCB):c.656_657del (p.Lys219fs) rs775458201
NM_000232.4(SGCB):c.699_702del (p.Phe233fs) rs1057516515
NM_000232.4(SGCB):c.85A>T (p.Arg29Ter) rs747809412
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg) rs776472526
NM_000235.4(LIPA):c.111+2T>G rs1554869292
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs) rs753796180
NM_000235.4(LIPA):c.428+1G>A rs1554866004
NM_000235.4(LIPA):c.482del (p.Asn161fs) rs762559980
NM_000235.4(LIPA):c.594dup (p.Ala199fs) rs780495201
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) rs121965086
NM_000235.4(LIPA):c.676-2A>G rs747508159
NM_000235.4(LIPA):c.822+1G>A rs1204744283
NM_000235.4(LIPA):c.883C>T (p.His295Tyr) rs1554865214
NM_000235.4(LIPA):c.892C>T (p.Gln298Ter) rs1554865206
NM_000235.4(LIPA):c.894+2T>C rs1554865199
NM_000235.4(LIPA):c.960C>A (p.Tyr320Ter) rs1554864404
NM_000243.2(MEFV):c.1958G>A (p.Arg653His) rs104895085
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000244.3(MEN1):c.1326dup (p.Thr443fs) rs1555164184
NM_000244.3(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_000249.3(MLH1):c.-27C>A rs587779001
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.1378G>T (p.Glu460Ter) rs756843954
NM_000249.3(MLH1):c.1409+1_1409+6del rs1057517617
NM_000249.3(MLH1):c.1731+1G>T rs267607853
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.454-1G>C rs193922370
NM_000249.3(MLH1):c.677+1G>A rs267607778
NM_000249.3(MLH1):c.884+3A>G rs267607803
NM_000251.2(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.2(MSH2):c.1276+2T>C rs267607953
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.354T>G (p.Tyr118Ter) rs1553350250
NM_000251.2(MSH2):c.806C>A (p.Ser269Ter) rs63750058
NM_000251.2(MSH2):c.943-2A>G rs587779198
NM_000253.3(MTTP):c.1558-2A>G rs1553927840
NM_000255.4(MMUT):c.1007del (p.Met336fs) rs1064796328
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1083+1G>A rs1554160198
NM_000255.4(MMUT):c.1084-10A>G rs777031588
NM_000255.4(MMUT):c.1084-2A>G rs879253839
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs) rs1476515561
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter) rs768608311
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter) rs879253844
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter) rs148285323
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.1880A>G (p.His627Arg) rs372486357
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) rs143023066
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg) rs747897332
NM_000255.4(MMUT):c.1946del (p.Pro649fs) rs1554158754
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1990del (p.Ala664fs) rs1554158372
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys) rs140600746
NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer) rs1554158325
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter) rs776176938
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) rs769348060
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249
NM_000255.4(MMUT):c.385+2T>C rs1192889987
NM_000255.4(MMUT):c.385+5G>A rs1460509686
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) rs121918248
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.654A>C (p.Gln218His) rs1446389693
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) rs1554160638
NM_000255.4(MMUT):c.754-2A>G rs1405705785
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser) rs1554160246
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr) rs780387525
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) rs796052002
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro) rs965316043
NM_000260.3(MYO7A):c.1969C>T rs878853236
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281
NM_000260.4(MYO7A):c.117_132+6del rs1555051567
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.133-2A>C rs782064437
NM_000260.4(MYO7A):c.1343+1G>A rs914189193
NM_000260.4(MYO7A):c.1555-8C>G rs1057517774
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter) rs781951909
NM_000260.4(MYO7A):c.1691-2A>G rs1555072299
NM_000260.4(MYO7A):c.1798-1G>A rs1555076948
NM_000260.4(MYO7A):c.18+2T>A rs564622720
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.1935+1G>C rs1343207038
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs) rs1555080760
NM_000260.4(MYO7A):c.224dup (p.Asp75fs) rs1224819887
NM_000260.4(MYO7A):c.2283-2_2293del rs1555082041
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter) rs1555082145
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.285+1G>C rs782661097
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter) rs782131913
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer) rs1555061466
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter) rs782468194
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter) rs1555085978
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.4(MYO7A):c.3504-2A>G rs1555090168
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.3631-1G>C rs1555090885
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs) rs1555091636
NM_000260.4(MYO7A):c.3924+1G>C rs1226046110
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) rs782787126
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs) rs1555092993
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs) rs1555093028
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs) rs1480697910
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) rs1555095933
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs) rs1555096070
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.4569-1G>A rs775792432
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs) rs1555100200
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) rs1555100273
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs) rs1555100315
NM_000260.4(MYO7A):c.471-1G>A rs548172627
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) rs1052030
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs) rs1555100603
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs) rs1555100625
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) rs1472566324
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs) rs1188637368
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs) rs1555101858
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs) rs1555102041
NM_000260.4(MYO7A):c.5043+1G>T rs1555102147
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182
NM_000260.4(MYO7A):c.5168+2T>C rs1192104600
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs) rs1555103458
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs) rs1555103532
NM_000260.4(MYO7A):c.5481-1G>C rs1555105118
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs) rs1555105135
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs) rs1555105202
NM_000260.4(MYO7A):