ClinVar Miner

Variants with conflicting interpretations "uncertain significance" and "pathogenic"

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

Total variants with conflicting interpretations: 4100

HGVS dbSNP
BRCA2: exon 2 deletion
FH Bologna 2
FH Vancouver 4
GRCh37/hg19 10q24.2(chr10:100690060-100911811)x1
GRCh37/hg19 11q22.3(chr11:103128365-103282924)x1
GRCh37/hg19 12p13.33(chr12:1949889-1986237)x1
GRCh37/hg19 12p13.33(chr12:1950037-1986237)x1
GRCh37/hg19 12q21.31(chr12:80632582-80728257)x1
GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1
GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32444044)x3
GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)x1
GRCh37/hg19 15q13.3(chr15:31352078-31392141)x1
GRCh37/hg19 16p11.2(chr16:28819028-29051191)x3
GRCh37/hg19 16p13.11(chr16:16247252-16258276)x1
GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1
GRCh37/hg19 19p13.2(chr19:11210898-11222316)
GRCh37/hg19 22q11.21(chr22:20030822-20053554)x1
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1
GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1
GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1
GRCh37/hg19 2q13(chr2:110873834-110983418)x1
GRCh37/hg19 5q14.3(chr5:89940237-89999954)x1
GRCh37/hg19 5q23.3(chr5:130138490-130513653)x1
GRCh37/hg19 6q23.3(chr6:135711485-135735779)x1
GRCh37/hg19 9q31.2(chr9:108444651-108476067)x1
GRCh38/hg38 15q13.1-13.2(chr15:28694893-30073921)x3
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32607357)x3
GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3
GRCh38/hg38 1q21.1(chr1:145705541-146009831)x1
GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1
GRCh38/hg38 22q11.21(chr22:20400132-21086225)x1
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x3
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x3
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3
GRCh38/hg38 2p25.3(chr2:30341-507042)x3
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3
NC_000002.11:g.(?_47709918)_(47710088_?)del
NC_000006.11:g.133783902_(133785996_?)del
NC_012920.1:m.3928G>C rs587776442
NC_012920.1:m.5559A>G rs1556423008
NC_012920.1:m.9176T>C rs199476135
NM_000016.5(ACADM):c.1247T>C (p.Ile416Thr) rs760892123
NM_000016.5(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000016.5(ACADM):c.134A>G (p.Gln45Arg) rs757434857
NM_000016.5(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.5(ACADM):c.253G>T (p.Gly85Cys) rs398123075
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) rs121434283
NM_000016.5(ACADM):c.387+1del rs786204424
NM_000016.5(ACADM):c.388-5G>A rs759254037
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.580A>G (p.Asn194Asp) rs773677327
NM_000016.5(ACADM):c.928G>A (p.Gly310Arg) rs747268471
NM_000016.5(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075
NM_000017.4(ACADS):c.1112G>T (p.Gly371Val) rs796051905
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser) rs202124189
NM_000017.4(ACADS):c.268G>A (p.Gly90Ser) rs121908005
NM_000017.4(ACADS):c.274G>T (p.Gly92Cys) rs121908004
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144
NM_000017.4(ACADS):c.323G>A (p.Gly108Asp) rs387906951
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser) rs746368198
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp) rs121908006
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_000018.4(ACADVL):c.890_892AGA[2] (p.Lys299del) rs387906252
NM_000020.2(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.2(ACVRL1):c.1324G>A (p.Val442Met) rs1085307421
NM_000020.2(ACVRL1):c.293A>G (p.Asn98Ser) rs1085307406
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) rs121917809
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) rs121908737
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr) rs60407644
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr) rs119450943
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
NM_000026.4(ADSL):c.153+1G>T rs1555903969
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln) rs28941471
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) rs376844297
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604
NM_000031.6(ALAD):c.718C>T (p.Arg240Trp) rs121912982
NM_000032.4(ALAS2):c.-258C>G rs140772352
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039
NM_000036.2(AMPD1):c.1261C>T (p.Arg421Trp) rs35859650
NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) rs17602729
NM_000036.2(AMPD1):c.1373G>A (p.Arg458His) rs121912682
NM_000038.6(APC):c.1121G>A (p.Arg374Gln) rs141582813
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.6(APC):c.1440A>C (p.Gln480His) rs863224537
NM_000038.6(APC):c.14C>A (p.Ser5Ter) rs373718658
NM_000038.6(APC):c.1744-2A>G rs587783035
NM_000038.6(APC):c.2105G>A (p.Gly702Glu) rs876658289
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.3920_3924del (p.Ile1307fs) rs1064794229
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.6(APC):c.4666dup (p.Thr1556fs) rs587783031
NM_000038.6(APC):c.6510del (p.Glu2172fs) rs1554087474
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000038.6(APC):c.8416C>G (p.Pro2806Ala) rs587780608
NM_000038.6(APC):c.937_938del (p.Glu313fs) rs387906239
NM_000043.6(FAS):c.695A>G (p.Tyr232Cys) rs121913079
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623
NM_000044.6(AR):c.1937C>A (p.Ala646Asp) rs1800053
NM_000044.6(AR):c.2437C>T (p.Leu813Phe) rs1555997625
NM_000044.6(AR):c.2659A>G (p.Met887Val) rs755226547
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) rs377280518
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1336+2T>G rs768012515
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.410G>T (p.Gly137Val) rs118203938
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000047.2(ARSL):c.36G>C (p.Arg12Ser) rs122460151
NM_000047.2(ARSL):c.410G>C (p.Gly137Ala) rs80338711
NM_000048.4(ASL):c.1079T>C (p.Met360Thr) rs875989948
NM_000048.4(ASL):c.280C>T (p.Arg94Cys) rs374304304
NM_000048.4(ASL):c.377G>A (p.Arg126Gln) rs777235530
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000049.3(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000051.3(ATM):c.1235+3A>G rs1417190414
NM_000051.3(ATM):c.1236-2A>T rs80159221
NM_000051.3(ATM):c.4110-9C>G rs730881367
NM_000051.3(ATM):c.4432C>T (p.Gln1478Ter) rs1368412801
NM_000051.3(ATM):c.5177+5G>A rs759373136
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.8030A>G (p.Tyr2677Cys) rs28942103
NM_000051.3(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.3(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000052.7(ATP7A):c.1707+6T>A rs797045334
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) rs267606673
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000053.4(ATP7B):c.1285+5G>T rs370579582
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg) rs372436901
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) rs28933390
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile) rs121918557
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg) rs115129687
NM_000057.4(BLM):c.3558+1G>T rs148969222
NM_000059.3(BRCA2):c.-39-2A>G rs1555280053
NM_000059.3(BRCA2):c.1763A>G (p.Asn588Ser) rs373400041
NM_000059.3(BRCA2):c.1799A>G (p.Tyr600Cys) rs397507276
NM_000059.3(BRCA2):c.1del (p.Met1fs) rs761283611
NM_000059.3(BRCA2):c.2254_2257del (p.Asp752fs) rs80359326
NM_000059.3(BRCA2):c.316+5G>A rs81002840
NM_000059.3(BRCA2):c.317-?_631+?del
NM_000059.3(BRCA2):c.3901_3903ACT[1] (p.Thr1302del) rs80359414
NM_000059.3(BRCA2):c.425G>A (p.Ser142Asn) rs397507713
NM_000059.3(BRCA2):c.426-12_426-9del rs398122778
NM_000059.3(BRCA2):c.475+3A>G rs81002795
NM_000059.3(BRCA2):c.475+3A>T rs81002795
NM_000059.3(BRCA2):c.516G>A (p.Lys172=) rs80359790
NM_000059.3(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.3(BRCA2):c.5229_5231del (p.Ser1744del) rs397507349
NM_000059.3(BRCA2):c.5428G>A (p.Val1810Ile) rs80358766
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.631+3A>G rs397507840
NM_000059.3(BRCA2):c.632-3C>G rs568027879
NM_000059.3(BRCA2):c.6449_6450insTA (p.Lys2150fs) rs276174872
NM_000059.3(BRCA2):c.6550C>T (p.Gln2184Ter) rs80358887
NM_000059.3(BRCA2):c.663T>G (p.Phe221Leu) rs80358891
NM_000059.3(BRCA2):c.68-1G>T rs1060502376
NM_000059.3(BRCA2):c.681+4A>G rs397507884
NM_000059.3(BRCA2):c.6859_6863del (p.Arg2287fs) rs398122568
NM_000059.3(BRCA2):c.6937+1G>A rs886040935
NM_000059.3(BRCA2):c.7007+4A>G rs876661201
NM_000059.3(BRCA2):c.7235C>T (p.Thr2412Ile) rs397507384
NM_000059.3(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.3(BRCA2):c.7792_7794GAA[1] (p.Glu2599del) rs80359682
NM_000059.3(BRCA2):c.7805+3A>C rs81002810
NM_000059.3(BRCA2):c.7806-9T>G rs397507939
NM_000059.3(BRCA2):c.7876T>C (p.Trp2626Arg) rs1060502459
NM_000059.3(BRCA2):c.7878G>A (p.Trp2626Ter) rs80359013
NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.3(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.3(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.3(BRCA2):c.7976+5G>A rs786201180
NM_000059.3(BRCA2):c.7976+5G>T rs786201180
NM_000059.3(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.3(BRCA2):c.7976G>C (p.Arg2659Thr) rs80359027
NM_000059.3(BRCA2):c.7977-2A>T rs276174899
NM_000059.3(BRCA2):c.7978T>G (p.Tyr2660Asp) rs80359029
NM_000059.3(BRCA2):c.7985C>A (p.Thr2662Lys) rs431825362
NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.3(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.3(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045
NM_000059.3(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8168A>G (p.Asp2723Gly) rs41293513
NM_000059.3(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082
NM_000059.3(BRCA2):c.8384_8395del (p.Phe2795_Arg2799delinsTer) rs587781689
NM_000059.3(BRCA2):c.8395del (p.Arg2799fs) rs80359709
NM_000059.3(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.3(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104
NM_000059.3(BRCA2):c.8754+4A>G rs81002893
NM_000059.3(BRCA2):c.8754+5G>A rs81002813
NM_000059.3(BRCA2):c.8954-3C>G rs81002844
NM_000059.3(BRCA2):c.8954-5A>G rs886040949
NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.3(BRCA2):c.9057A>G (p.Lys3019=) rs1799956
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.3(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.3(BRCA2):c.9466C>T (p.Gln3156Ter) rs276174925
NM_000059.3(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.3(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000060.3(BTD):c.310-15delT rs587783008
NM_000065.4(C6):c.2381+2T>C rs76202909
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132
NM_000070.3(CAPN3):c.2440-1G>A rs886044052
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr) rs794727615
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547
NM_000071.2(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.2(CBS):c.1280C>T (p.Pro427Leu) rs863223434
NM_000071.2(CBS):c.1397C>T (p.Ser466Leu) rs121964971
NM_000071.2(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.2(CBS):c.502G>A (p.Val168Met) rs121964970
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.770C>T (p.Thr257Met) rs758236584
NM_000071.2(CBS):c.904G>A (p.Glu302Lys) rs779270933
NM_000073.2(CD3G):c.213del (p.Lys71fs) rs570768621
NM_000077.4(CDKN2A):c.242C>G (p.Pro81Arg) rs11552823
NM_000077.4(CDKN2A):c.250G>T (p.Asp84Tyr) rs11552822
NM_000077.4(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000080.3(CHRNE):c.37G>A (p.Gly13Arg) rs372635387
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) rs80356685
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)
NM_000083.3(CLCN1):c.857T>C (p.Val286Ala) rs80356689
NM_000085.4(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133
NM_000086.2(CLN3):c.988G>A (p.Val330Ile) rs386833744
NM_000088.3(COL1A1):c.4239T>A (p.Asp1413Glu) rs754555549
NM_000090.3(COL3A1):c.2445+5G>A (p.Gly798_Pro815del) rs587779636
NM_000090.3(COL3A1):c.3256-43T>G (p.Pro1085_Gly1086insVCVYMTSIQNMFLK) rs587779667
NM_000090.3(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000091.4(COL4A3):c.2954G>T (p.Gly985Val) rs121912827
NM_000091.4(COL4A3):c.443G>T (p.Gly148Val) rs775373641
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000092.4(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109
NM_000092.4(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863
NM_000094.3(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838
NM_000095.3(COMP):c.1586C>T (p.Thr529Ile) rs312262903
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) rs74315297
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) rs186044004
NM_000098.3(CPT2):c.1657G>A (p.Asp553Asn) rs28936376
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000104.3(CYP1B1):c.1120G>A (p.Asp374Asn) rs104893622
NM_000104.3(CYP1B1):c.1168C>T (p.Arg390Cys) rs148542782
NM_000104.3(CYP1B1):c.155C>T (p.Pro52Leu) rs201824781
NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700
NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671
NM_000104.3(CYP1B1):c.868dup (p.Arg290fs) rs587778875
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000109.4(DMD):c.3579+2_3579+3insTA
NM_000109.4(DMD):c.5300_5301delinsGT (p.Lys1767Ser) rs1557303381
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000110.3(DPYD):c.2657G>A (p.Arg886His) rs1801267
NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val) rs104893918
NM_000112.3(SLC26A2):c.764G>A (p.Gly255Glu) rs104893917
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134
NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln) rs727502811
NM_000117.2(EMD):c.450-2A>G rs398123158
NM_000118.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_000118.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000118.3(ENG):c.788T>A (p.Ile263Asn) rs1085307431
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487
NM_000123.3(ERCC5):c.2375C>T (p.Ala792Val) rs121434571
NM_000123.3(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2599-26A>G rs4253196
NM_000126.4(ETFA):c.2T>C (p.Met1Thr) rs727503918
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586
NM_000128.3(F11):c.1325del (p.Leu442fs) rs757530565
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000129.3(F13A1):c.782G>A (p.Arg261His) rs121913071
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.4261-2A>C rs915983602
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000137.3(FAH):c.607-6T>G rs80338896
NM_000137.3(FAH):c.81+2T>A rs772895065
NM_000138.4(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.4(FBN1):c.1837+5G>A rs1445085747
NM_000138.4(FBN1):c.185G>A (p.Arg62His) rs145942328
NM_000138.4(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.4(FBN1):c.3379G>A (p.Gly1127Ser) rs137854468
NM_000138.4(FBN1):c.3476G>A (p.Cys1159Tyr) rs1555398524
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.4(FBN1):c.3974A>C (p.Glu1325Ala) rs794728331
NM_000138.4(FBN1):c.4747+5G>C rs193922209
NM_000138.4(FBN1):c.5065+2dup rs1555396835
NM_000138.4(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.4(FBN1):c.5513G>A (p.Gly1838Asp) rs78970689
NM_000138.4(FBN1):c.6163+2dup rs794728315
NM_000138.4(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.4(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.4(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.4(FBN1):c.6496G>A (p.Asp2166Asn) rs794728252
NM_000138.4(FBN1):c.6662G>A (p.Cys2221Tyr) rs137854460
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.4(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466
NM_000138.4(FBN1):c.8416dup (p.Ile2806fs) rs1555393538
NM_000138.4(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
NM_000138.4(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000140.4(FECH):c.315-48T>C rs2272783
NM_000143.3(FH):c.1118A>G (p.Asn373Ser) rs1060499643
NM_000143.3(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.3(FH):c.1301G>A (p.Cys434Tyr) rs398123164
NM_000143.3(FH):c.132G>A (p.Met44Ile) rs863223982
NM_000143.3(FH):c.1391-1G>C rs863223978
NM_000143.3(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.3(FH):c.40dup (p.Leu14fs) rs1060500900
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000143.3(FH):c.6C>G (p.Tyr2Ter) rs199971078
NM_000144.5(FXN):c.118C>T (p.Arg40Cys) rs145854903
NM_000150.2(FUT6):c.739G>A (p.Glu247Lys) rs17855739
NM_000151.4(G6PC):c.965T>A (p.Phe322Tyr) rs863224022
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) rs121907940
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000153.3(GALC):c.1158_1161+6delCATGGTAAAC rs759068540
NM_000153.4(GALC):c.136G>T (p.Asp46Tyr) rs751975987
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576
NM_000155.3(GALT):c.779_790delATGTGCGGCGGC (p.His260_Arg263del) rs111033762
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.107C>T (p.Pro36Leu) rs111033645
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819
NM_000155.4(GALT):c.134C>T (p.Ser45Leu) rs111033652
NM_000155.4(GALT):c.152G>A (p.Arg51Gln) rs111033648
NM_000155.4(GALT):c.197C>T (p.Pro66Leu) rs111033656
NM_000155.4(GALT):c.241G>A (p.Ala81Thr) rs111033665
NM_000155.4(GALT):c.247G>A (p.Gly83Arg) rs111033660
NM_000155.4(GALT):c.27G>C (p.Gln9His) rs111033637
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.367C>G (p.Arg123Gly) rs111033674
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr) rs367543255
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.496C>G (p.Pro166Ala) rs367543257
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.652C>G (p.Leu218Val) rs2070075
NM_000155.4(GALT):c.676C>G (p.Leu226Val) rs111033751
NM_000155.4(GALT):c.752A>C (p.Tyr251Ser) rs111033755
NM_000155.4(GALT):c.752A>G (p.Tyr251Cys) rs111033755
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.82G>A (p.Asp28Asn) rs111033636
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783
NM_000155.4(GALT):c.91C>A (p.His31Asn) rs111033643
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266
NM_000155.4(GALT):c.970C>T (p.Pro324Ser) rs111033798
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1060G>C (p.Asp354His) rs398123526
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000157.4(GBA):c.721G>A (p.Gly241Arg) rs409652
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu) rs886043840
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890
NM_000159.4(GCDH):c.428T>C (p.Val143Ala) rs141456457
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg) rs1176799813
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000161.3(GCH1):c.747G>C (p.Arg249Ser) rs104894442
NM_000163.5(GHR):c.484G>A (p.Val162Ile) rs6413484
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln) rs2227885
NM_000165.5(GJA1):c.605G>A (p.Arg202His) rs750294638
NM_000165.5(GJA1):c.65G>A (p.Gly22Glu) rs104893964
NM_000165.5(GJA1):c.681A>T (p.Glu227Asp) rs875989815
NM_000166.6(GJB1):c.-17G>A rs879254047
NM_000166.6(GJB1):c.100A>G (p.Met34Val) rs1569215061
NM_000166.6(GJB1):c.101T>C (p.Met34Thr) rs1060500998
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.112G>A (p.Val38Met) rs879254012
NM_000166.6(GJB1):c.116C>T (p.Ala39Val) rs786204095
NM_000166.6(GJB1):c.120_121AG[2] (p.Ser42fs)
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala) rs878853697
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter) rs879254096
NM_000166.6(GJB1):c.238C>T (p.Gln80Ter)
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) rs104894823
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro) rs1555937122
NM_000166.6(GJB1):c.281A>G (p.His94Arg)
NM_000166.6(GJB1):c.282C>A (p.His94Gln) rs756000896
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.304_306del (p.Glu102del) rs1555937135
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) rs779696968
NM_000166.6(GJB1):c.370A>G (p.Lys124Glu) rs1555937161
NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.394T>C (p.Trp132Arg) rs1569215263
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) rs1241595912
NM_000166.6(GJB1):c.515C>T (p.Pro172Leu) rs1555937218
NM_000166.6(GJB1):c.524dup (p.Asn175fs) rs1569215346
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.541G>A (p.Val181Met) rs879253909
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.556G>T (p.Glu186Ter) rs116840821
NM_000166.6(GJB1):c.590C>T (p.Ala197Val) rs1569215418
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) rs1555937270
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter) rs1569215443
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.77C>G (p.Ser26Trp) rs587777876
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000166.6(GJB1):c.8G>A (p.Trp3Ter) rs1555936989
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000169.2(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.124A>C (p.Met42Leu) rs797044613
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.639+919G>A rs199473684
NM_000169.2(GLA):c.724A>G (p.Ile242Val) rs397515873
NM_000169.2(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) rs150171524
NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000178.4(GSS):c.4del (p.Ala2fs) rs752560204
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.2(MSH6):c.2342C>T (p.Pro781Leu) rs1553413710
NM_000179.2(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.2(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.2(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.2(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.2(MSH6):c.3del (p.Met1fs) rs1553408068
NM_000179.2(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.2(MSH6):c.4028C>G (p.Ser1343Ter) rs863225420
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.3(GUCY2D):c.2598G>C (p.Lys866Asn) rs201587670
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr) rs760106433
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr) rs137853341
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp) rs1555518481
NM_000196.4(HSD11B2):c.343_348del (p.Glu115_Leu116del) rs794726669
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly) rs121965031
NM_000203.5(IDUA):c.300-3C>G rs1226056948
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030
NM_000207.2(INS):c.-152C>G rs748749585
NM_000208.4(INSR):c.1195C>T (p.Arg399Ter) rs121913151
NM_000214.3(JAG1):c.233G>A (p.Cys78Tyr) rs1555830957
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968
NM_000215.3(JAK3):c.1765G>A (p.Gly589Ser) rs886039394
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.2(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443
NM_000218.2(KCNQ1):c.211_219delGCCGCGCCC rs397508107
NM_000218.2(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) rs74315446
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000220.5(KCNJ1):c.634C>T (p.Arg212Ter) rs201707868
NM_000222.2(KIT):c.1964A>G (p.Asn655Ser) rs1057519707
NM_000222.2(KIT):c.2089C>T (p.His697Tyr) rs763308199
NM_000222.2(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.2(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000226.4(KRT9):c.488G>A (p.Arg163Gln) rs57758262
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala) rs121912486
NM_000232.4(SGCB):c.-10_22dup (p.Ala8fs) rs1553940963
NM_000236.3(LIPC):c.866C>T (p.Ser289Phe) rs121912502
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.1432C>T (p.His478Tyr) rs104895105
NM_000243.2(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.2(MEFV):c.1730C>A (p.Thr577Asn) rs1057516210
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1958G>A (p.Arg653His) rs104895085
NM_000243.2(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.2(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.2(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000243.2(MEFV):c.2082G>A (p.Met694Ile) rs28940578
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.2(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000243.2(MEFV):c.289C>T (p.Gln97Ter) rs747515115
NM_000243.2(MEFV):c.436C>T (p.Gln146Ter) rs876660990
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.443A>T (p.Glu148Val) rs104895076
NM_000243.2(MEFV):c.501G>C (p.Glu167Asp) rs104895079
NM_000243.2(MEFV):c.800C>T (p.Thr267Ile) rs104895081
NM_000244.3(MEN1):c.482G>A (p.Gly161Asp) rs794728648
NM_000244.3(MEN1):c.518T>C (p.Leu173Pro) rs386134256
NM_000244.3(MEN1):c.76G>A (p.Glu26Lys) rs28931612
NM_000246.3(CIITA):c.2888+1G>A rs372826934
NM_000248.3(MITF):c.952G>A (p.Glu318Lys) rs149617956
NM_000249.3(MLH1):c.-27C>A rs587779001
NM_000249.3(MLH1):c.-42C>T rs41285097
NM_000249.3(MLH1):c.100G>A (p.Glu34Lys) rs1559500884
NM_000249.3(MLH1):c.109G>A (p.Glu37Lys) rs63751012
NM_000249.3(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.3(MLH1):c.1731+5G>A rs267607850
NM_000249.3(MLH1):c.1865T>C (p.Leu622Pro) rs63750693
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2104_2105delAG rs63751651
NM_000249.3(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000249.3(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.3(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.3(MLH1):c.677+5G>A rs587779034
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.3(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000249.3(MLH1):c.884+3A>G rs267607803
NM_000249.3(MLH1):c.918T>A (p.Asn306Lys) rs587779054
NM_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.2(MSH2):c.1319T>C (p.Leu440Pro) rs587779084
NM_000251.2(MSH2):c.1660A>G (p.Ser554Gly) rs63751656
NM_000251.2(MSH2):c.1661+5G>C rs267607972
NM_000251.2(MSH2):c.1784T>G (p.Leu595Arg) rs786201590
NM_000251.2(MSH2):c.2006G>T (p.Gly669Val) rs63751640
NM_000251.2(MSH2):c.2047G>A (p.Gly683Arg) rs267607995
NM_000251.2(MSH2):c.2083G>A (p.Val695Met) rs772491283
NM_000251.2(MSH2):c.2087C>T (p.Pro696Leu) rs267607994
NM_000251.2(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.490G>T (p.Gly164Trp) rs63750582
NM_000251.2(MSH2):c.599T>A (p.Val200Asp) rs587779167
NM_000251.2(MSH2):c.929T>G (p.Leu310Arg) rs63750640
NM_000252.2(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.2(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.2(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000254.2(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000255.4(MMUT):c.1084-10A>G rs777031588
NM_000255.4(MMUT):c.1849_1851CTT[1] (p.Leu618del) rs398123277
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1829A>T (p.Asp610Val) rs730880554
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly) rs727503190
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) rs371401403
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378
NM_000256.3(MYBPC3):c.3404_3406ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3628-41_3628-17del25 rs36212066
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile) rs397516045
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr) rs121913640
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser) rs121913625
NM_000257.4(MYH7):c.1681G>A (p.Ala561Thr) rs730880878
NM_000257.4(MYH7):c.1925C>T (p.Ser642Leu) rs121913646
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2069T>C (p.Met690Thr) rs397516128
NM_000257.4(MYH7):c.2093T>C (p.Val698Ala) rs397516130
NM_000257.4(MYH7):c.2129C>A (p.Pro710His) rs727504272
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln) rs730880748
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro) rs727504356
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_000257.4(MYH7):c.2714G>C (p.Cys905Ser) rs730880757
NM_000257.4(MYH7):c.2792A>G (p.Glu931Gly) rs730880760
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys) rs121913629
NM_000257.4(MYH7):c.2858A>T (p.Asp953Val) rs730880901
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys) rs730880800
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225
NM_000257.4(MYH7):c.4835T>C (p.Leu1612Pro) rs587779392
NM_000257.4(MYH7):c.4855G>A (p.Glu1619Lys) rs45442096
NM_000257.4(MYH7):c.5005_5007del (p.Glu1669del) rs587779394
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753
NM_000257.4(MYH7):c.5399C>T (p.Ala1800Val) rs730880817
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770
NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys) rs121913652
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp) rs367543053
NM_000257.4(MYH7):c.610C>T (p.Arg204Cys) rs397516259
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.677C>T (p.Ala226Val) rs876657887
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000258.2(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000258.2(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000258.2(MYL3):c.461G>A (p.Arg154His) rs104893749
NM_000258.2(MYL3):c.518T>A (p.Met173Lys) rs730880962
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.2011G>A (p.Gly671Ser) rs387906699
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257
NM_000262.3(NAGA):c.986G>A (p.Arg329Gln) rs121434533
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000267.3(NF1):c.1063-13G>A rs1131691066
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1527+5G>A rs1060500352
NM_000267.3(NF1):c.1642-3C>G
NM_000267.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_000267.3(NF1):c.1919C>T (p.Thr640Ile)
NM_000267.3(NF1):c.2326-3T>G rs876658946
NM_000267.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_000267.3(NF1):c.2410-18C>G rs533210843
NM_000267.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_000267.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728
NM_000267.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_000267.3(NF1):c.2851-6_2851-3del
NM_000267.3(NF1):c.3197G>C (p.Arg1066Thr) rs1555614652
NM_000267.3(NF1):c.3446T>C (p.Met1149Thr)
NM_000267.3(NF1):c.3790G>A (p.Glu1264Lys) rs863224660
NM_000267.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_000267.3(NF1):c.4172G>C (p.Arg1391Thr) rs1555618516
NM_000267.3(NF1):c.4267A>C (p.Lys1423Gln) rs137854550
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4278G>C (p.Gln1426His) rs876660206
NM_000267.3(NF1):c.4289A>C (p.Asn1430Thr) rs199474754
NM_000267.3(NF1):c.4289A>T (p.Asn1430Ile) rs199474754
NM_000267.3(NF1):c.4515-19A>G rs1555618994
NM_000267.3(NF1):c.5206-14C>G rs753463683
NM_000267.3(NF1):c.5206-8C>G
NM_000267.3(NF1):c.5446G>A (p.Asp1816Asn) rs771597781
NM_000267.3(NF1):c.587-3C>G rs375188075
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.6642-3C>G rs1131691079
NM_000267.3(NF1):c.7126G>A (p.Gly2376Arg) rs1135402900
NM_000267.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_000271.5(NPC1):c.2292G>A (p.Ala764=) rs772565983
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000276.4(OCRL):c.1498C>G (p.Arg500Gly) rs398123287
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1304A>T (p.Asp435Val)
NM_000277.3(PAH):c.1352_1356TAAAG[1] (p.Ter453ProextTer?) rs794727086
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.441+4A>G rs62508586
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.800A>G (p.Gln267Arg) rs778154939
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958
NM_000277.3(PAH):c.969+6T>A rs62517196
NM_000280.4(PAX6):c.34G>C (p.Gly12Arg) rs1565246499
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000286.3(PEX12):c.681-2A>C rs187526749
NM_000286.3(PEX12):c.949C>T (p.Leu317Phe) rs61752112
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) rs28936697
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp) rs104894034
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter) rs758004953
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro) rs121918022
NM_000294.3(PHKG2):c.926G>A (p.Arg309Gln) rs572115942
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) rs1802959
NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr) rs61761869
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000301.3(PLG):c.1858G>A (p.Ala620Thr) rs121918027
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.19_20del (p.Ser7fs) rs587776691
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.307C>T (p.Gln103Ter) rs1567704621
NM_000304.4(PMP22):c.320G>T (p.Gly107Val)
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) rs786205111
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg) rs775019409
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys) rs104894624
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp) rs879253954
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000306.4(POU1F1):c.811C>T (p.Arg271Trp) rs104893755
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu) rs1060499806
NM_000311.5(PRNP):c.623G>A (p.Arg208His) rs74315412
NM_000311.5(PRNP):c.695T>G (p.Met232Arg) rs74315409
NM_000312.3(PROC):c.565C>T (p.Arg189Trp) rs146922325
NM_000312.3(PROC):c.574_576AAG[1] (p.Lys193del) rs199469469
NM_000312.3(PROC):c.629C>T (p.Pro210Leu) rs121918145
NM_000314.7(PTEN):c.-764G>A rs587776674
NM_000314.7(PTEN):c.-861G>T rs587776675
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.7(PTEN):c.284C>T (p.Pro95Leu) rs786204856
NM_000314.7(PTEN):c.320A>T (p.Asp107Val) rs786204858
NM_000314.7(PTEN):c.338G>T (p.Ser113Ile) rs587781254
NM_000314.7(PTEN):c.422A>C (p.His141Pro) rs863224666
NM_000314.7(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.7(PTEN):c.470A>G (p.Glu157Gly) rs1085308051
NM_000314.7(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.7(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.7(PTEN):c.545T>C (p.Leu182Ser) rs794729664
NM_000314.7(PTEN):c.633C>G (p.Cys211Trp) rs121909232
NM_000314.7(PTEN):c.634+5G>C rs138336847
NM_000314.7(PTEN):c.635-3C>G rs1085308056
NM_000314.7(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.7(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.7(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.7(PTEN):c.79+7A>G rs374331677
NM_000316.3(PTH1R):c.103G>A (p.Glu35Lys) rs1559532562
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279
NM_000317.3(PTS):c.46C>T (p.Arg16Cys) rs104894274
NM_000321.2(RB1):c.1472T>C (p.Leu491Pro) rs587778848
NM_000321.2(RB1):c.1973C>A (p.Ala658Asp) rs587778834
NM_000321.2(RB1):c.2325+5G>A rs886042249
NM_000321.2(RB1):c.69_71GCC[3] (p.Pro29del) rs587778823
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149
NM_000334.4(SCN4A):c.3424C>T (p.Arg1142Ter) rs912001256
NM_000335.4(SCN5A):c.2861_2862GA[2] (p.Glu955fs) rs756159737
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser) rs137852706
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153
NM_000336.3(SCNN1B):c.880G>A (p.Gly294Ser) rs72654338
NM_000337.5(SGCD):c.4-1G>A rs1554094927
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000339.3(SLC12A3):c.1964G>A (p.Arg655His) rs121909380
NM_000339.3(SLC12A3):c.2573T>A (p.Leu858His) rs185927948
NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile) rs121909741
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759
NM_000344.3(SMN1):c.419A>T (p.Asp140Val) rs1554081968
NM_000344.3(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000344.3(SMN1):c.835-3C>T rs772466166
NM_000345.4(SNCA):c.150T>G (p.His50Gln) rs201106962
NM_000346.4(SOX9):c.507C>G (p.His169Gln) rs2229989
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250
NM_000349.3(STAR):c.466-11T>A rs1053284504
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559
NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys) rs779426136
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.4773+3A>G rs759672616
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) rs2234036
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp) rs121918729
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524
NM_000360.4(TH):c.1388C>T (p.Thr463Met) rs45471299
NM_000360.4(TH):c.848C>T (p.Thr283Met) rs121917764
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242
NM_000363.5(TNNI3):c.511G>A (p.Ala171Thr) rs121917761
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys) rs727504243
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249
NM_000364.4(TNNT2):c.281dup (p.Val95fs) rs780087395
NM_000364.4(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_000364.4(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_000364.4(TNNT2):c.460C>T (p.Arg154Trp) rs483352832
NM_000364.4(TNNT2):c.635G>A (p.Arg212Gln) rs121964860
NM_000368.4(TSC1):c.610C>T (p.Arg204Cys) rs1060505021
NM_000368.4(TSC1):c.64C>T (p.Arg22Trp) rs749030456
NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp) rs397515522
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840
NM_000371.3(TTR):c.116C>A (p.Ala39Asp) rs11541795
NM_000371.3(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000371.3(TTR):c.418G>T (p.Ala140Ser) rs876658108
NM_000371.3(TTR):c.88T>C (p.Cys30Arg) rs121918083
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016
NM_000380.3(XPA):c.323G>T (p.Cys108Phe) rs104894131
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys) rs12713559
NM_000384.3(APOB):c.10700C>T (p.Thr3567Met) rs368278927
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr) rs201736972
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg) rs61744288
NM_000384.3(APOB):c.13026_13027AT[1] (p.Tyr4343fs) rs760832994
NM_000384.3(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys) rs146377316
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) rs104893716
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) rs104893690
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser) rs140022350
NM_000388.4(CASR):c.2641T>C (p.Phe881Leu) rs104893704
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.4(TPP1):c.887-10A>G rs755445790
NM_000392.5(ABCC2):c.1325G>A (p.Trp442Ter) rs776087856
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs) rs772673105
NM_000393.5(COL5A2):c.2627G>A (p.Gly876Glu) rs886039694
NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)
NM_000397.3(CYBB):c.170C>A (p.Ala57Glu) rs151344481
NM_000397.3(CYBB):c.389G>C (p.Arg130Pro) rs193922448
NM_000398.7(CYB5R3):c.352C>T (p.His118Tyr)
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) rs281865136
NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys)
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) rs281865139
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.3(ERCC2):c.776G>A (p.Cys259Tyr) rs370454709
NM_000401.3(EXT2):c.1118T>A (p.Val373Asp) rs371996957
NM_000401.3(EXT2):c.1492C>T (p.Arg498Ter) rs772690312
NM_000401.3(EXT2):c.2015C>T (p.Thr672Met) rs138722406
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro) rs72555369
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) rs72555365
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) rs72555371
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) rs572237881
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) rs778700089
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360
NM_000404.4(GLB1):c.75+1G>C rs398123358
NM_000409.4(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968
NM_000410.3(HFE):c.193A>T (p.Ser65Cys) rs1800730
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000411.8(HLCS):c.1533dup (p.Val512fs) rs767533946
NM_000411.8(HLCS):c.1711G>A (p.Asp571Asn) rs119103228
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) rs587777442
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu) rs587777444
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) rs201009485
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000416.2(IFNGR1):c.653_655del (p.Glu218del) rs587776858
NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln) rs879255514
NM_000426.3(LAMA2):c.1467+1G>A rs1554234161
NM_000426.3(LAMA2):c.1580G>A (p.Cys527Tyr) rs121913574
NM_000426.3(LAMA2):c.2049_2050delAG rs202247790
NM_000426.3(LAMA2):c.2584T>C (p.Cys862Arg) rs121913573
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000426.3(LAMA2):c.8244+3_8244+6del rs746678525
NM_000426.3(LAMA2):c.9253C>T rs121913571
NM_000429.3(MAT1A):c.964A>T (p.Ile322Phe) rs1057517759
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000432.3(MYL2):c.141C>A (p.Asn47Lys) rs199474808
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000432.3(MYL2):c.403-1G>T rs199474813
NM_000432.3(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000434.4(NEU1):c.779T>A (p.Phe260Tyr) rs104893977
NM_000435.3(NOTCH3):c.1426A>T (p.Ser476Cys) rs886054260
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.2(SLC26A4):c.-103T>C rs60284988
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000445.5(PLEC):c.2668_2676CAGGAGGCC[1] (p.890_892QEA[1]) rs786205252
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) rs63750110
NM_000448.2(RAG1):c.2923C>T (p.Arg975Trp) rs121918570
NM_000449.3(RFX5):c.446G>A (p.Arg149Gln) rs137853099
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_000454.4(SOD1):c.289G>A (p.Asp97Asn) rs121912459
NM_000455.4(STK11):c.407T>C (p.Met136Thr) rs1060499958
NM_000455.4(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_000455.4(STK11):c.543C>G (p.Asn181Lys) rs730881973
NM_000455.4(STK11):c.890G>A (p.Arg297Lys) rs1568710381
NM_000458.4(HNF1B):c.884G>A (p.Arg295His) rs886043813
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs) rs786203811
NM_000465.4(BARD1):c.2296_2297TG[2] (p.Val767fs) rs750413473
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter) rs752514155
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000478.6(ALPL):c.485G>T (p.Gly162Val) rs121918012
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000481.3(AMT):c.139G>A (p.Gly47Arg) rs121964982
NM_000481.3(AMT):c.350C>T (p.Ser117Leu) rs769468125
NM_000481.3(AMT):c.887G>A (p.Arg296His) rs386833690
NM_000481.3(AMT):c.958C>T (p.Arg320Cys) rs866625610
NM_000483.5(APOC2):c.178G>A (p.Glu60Lys) rs5122
NM_000484.4(APP):c.1995G>C (p.Glu665Asp) rs63750363
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln) rs74315477
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu) rs74315462
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys) rs527640350
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459
NM_000488.3(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548
NM_000488.3(SERPINC1):c.1256C>T (p.Ala419Val) rs121909568
NM_000488.3(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551
NM_000488.3(SERPINC1):c.236G>A (p.Arg79His) rs121909552
NM_000488.3(SERPINC1):c.482G>A (p.Arg161Gln) rs121909563
NM_000488.3(SERPINC1):c.89T>A (p.Val30Glu) rs2227624
NM_000489.5(ATRX):c.4620_4625TGAAGA[1] (p.1540_1541DE[1]) rs797045406
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.3(CFTR):c.1517T>C (p.Ile506Thr) rs397508224
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1584+18672A>G rs397508229
NM_000492.3(CFTR):c.1601C>A (p.Ala534Glu) rs387906368
NM_000492.3(CFTR):c.164+2dup rs1554375870
NM_000492.3(CFTR):c.1658G>A (p.Arg553Gln) rs121909044
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) rs75789129
NM_000492.3(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1766G>A (p.Ser589Asn) rs397508300
NM_000492.3(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.3(CFTR):c.1841A>G (p.Asp614Gly) rs201124247
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys) rs199791061
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs144055758
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.3(CFTR):c.2706C>G (p.Ser902Arg) rs397508422
NM_000492.3(CFTR):c.2797A>G (p.Arg933Gly) rs397508436
NM_000492.3(CFTR):c.2813T>G (p.Val938Gly) rs193922511
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.2909-15T>G rs397508455
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.3(CFTR):c.2939T>A (p.Ile980Lys) rs397508463
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.3(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988
NM_000492.3(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.3(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.3(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623
NM_000492.3(CFTR):c.330C>A (p.Asp110Glu) rs397508537
NM_000492.3(CFTR):c.331C>G (p.Pro111Ala) rs397508541
NM_000492.3(CFTR):c.332C>T (p.Pro111Leu) rs140502196
NM_000492.3(CFTR):c.3410T>G (p.Met1137Arg) rs397508555
NM_000492.3(CFTR):c.3458T>A (p.Val1153Glu) rs397508567
NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123
NM_000492.3(CFTR):c.3717+40A>G rs397508595
NM_000492.3(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3872A>G (p.Gln1291Arg) rs397508621
NM_000492.3(CFTR):c.3873G>C (p.Gln1291His) rs121909015
NM_000492.3(CFTR):c.3874-4522A>G rs895394181
NM_000492.3(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.3(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.3(CFTR):c.410T>C (p.Leu137Pro) rs397508674
NM_000492.3(CFTR):c.4129G>C (p.Asp1377His) rs150683293
NM_000492.3(CFTR):c.4243-7del rs878854021
NM_000492.3(CFTR):c.4276T>C (p.Ser1426Pro) rs397508708
NM_000492.3(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725
NM_000492.3(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585
NM_000492.3(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.3(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.3(CFTR):c.581G>T (p.Gly194Val) rs397508763
NM_000492.3(CFTR):c.598T>A (p.Phe200Ile) rs397508766
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.3(CFTR):c.794T>G (p.Met265Arg) rs148519623
NM_000492.3(CFTR):c.869+5G>A rs533959068
NM_000492.3(CFTR):c.941G>A (p.Gly314Glu) rs75763344
NM_000495.5(COL4A5):c.1032+5G>T rs104886315
NM_000495.5(COL4A5):c.2510-33A>G rs104886358
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266
NM_000505.3(F12):c.158A>G (p.Tyr53Cys) rs118204455
NM_000506.3(F2):c.598G>A (p.Glu200Lys) rs62623459
NM_000506.4(F2):c.1787G>T (p.Arg596Leu) rs387907201
NM_000512.5(GALNS):c.953T>G (p.Met318Arg) rs746756997
NM_000517.6(HBA2):c.420del (p.Lys140fs) rs63750520
NM_000517.6(HBA2):c.98T>G (p.Met33Arg) rs1468615416
NM_000518.4(HBB):c.-82C>T rs34500389
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.374C>A (p.Pro125Gln) rs33983276
NM_000518.5(HBB):c.-106G>C rs63750681
NM_000518.5(HBB):c.-142C>T rs34883338
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) rs35537181
NM_000518.5(HBB):c.315G>C (p.Arg105Ser) rs33914944
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071
NM_000520.5(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.5(HEXA):c.1496G>A (p.Arg499His) rs121907956
NM_000520.5(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000520.5(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.5(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val) rs28940871
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000520.6(HEXA):c.806-7G>A rs770932296
NM_000521.4(HEXB):c.1169+3_1169+10del rs398123444
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000523.4(HOXD13):c.32G>C (p.Gly11Ala) rs536639583
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564
NM_000527.4(LDLR):c.-187_-185del rs1270618112
NM_000527.4(LDLR):c.-188C>T rs878854023
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.4(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.4(LDLR):c.1057G>A (p.Glu353Lys) rs370471092
NM_000527.4(LDLR):c.1066G>A (p.Asp356Asn) rs767767730
NM_000527.4(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.4(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.4(LDLR):c.1090T>C (p.Cys364Arg) rs879254787
NM_000527.4(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352
NM_000527.4(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.4(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356
NM_000527.4(LDLR):c.1166C>T (p.Thr389Met) rs149227308
NM_000527.4(LDLR):c.1175G>A (p.Cys392Tyr) rs1060500986
NM_000527.4(LDLR):c.1186+5G>A rs879254821
NM_000527.4(LDLR):c.1186+5G>C rs879254821
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1217G>A (p.Arg406Gln) rs552422789
NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.4(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.4(LDLR):c.1285G>C (p.Val429Leu) rs28942078
NM_000527.4(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.4(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.4(LDLR):c.1301C>T (p.Thr434Met) rs745343524
NM_000527.4(LDLR):c.1307T>C (p.Val436Ala) rs779732323
NM_000527.4(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.4(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.4(LDLR):c.1359-5C>G rs531005522
NM_000527.4(LDLR):c.1367T>C (p.Leu456Pro) rs200143634
NM_000527.4(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101
NM_000527.4(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.4(LDLR):c.139G>A (p.Asp47Asn) rs778284147
NM_000527.4(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1435C>G (p.Leu479Val) rs1254928151
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1449G>C (p.Trp483Cys) rs879254907
NM_000527.4(LDLR):c.1449G>T (p.Trp483Cys) rs879254907
NM_000527.4(LDLR):c.1463T>C (p.Ile488Thr) rs879254913
NM_000527.4(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1474G>C (p.Asp492His) rs373646964
NM_000527.4(LDLR):c.1504G>T (p.Asp502Tyr) rs879254925
NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.4(LDLR):c.1516G>A (p.Val506Met) rs373848925
NM_000527.4(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.4(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.4(LDLR):c.1586+5G>A rs781362878
NM_000527.4(LDLR):c.1587-?_2140+?del
NM_000527.4(LDLR):c.1588T>G (p.Phe530Val) rs875989924
NM_000527.4(LDLR):c.1598G>A (p.Trp533Ter) rs746939188
NM_000527.4(LDLR):c.1618G>T (p.Ala540Ser) rs769370816
NM_000527.4(LDLR):c.1634G>A (p.Gly545Glu) rs759876319
NM_000527.4(LDLR):c.1658A>G (p.Tyr553Cys) rs879254974
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.4(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.4(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.4(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.4(LDLR):c.1793T>A (p.Ile598Asn) rs879255024
NM_000527.4(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.4(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.4(LDLR):c.1829_1831del (p.Ser610del) rs879255037
NM_000527.4(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1837G>A (p.Val613Ile) rs148181903
NM_000527.4(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.4(LDLR):c.1845+15C>A rs759867686
NM_000527.4(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.4(LDLR):c.1868T>C (p.Ile623Thr) rs141155833
NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.4(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.191-?_940+?del
NM_000527.4(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.4(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.4(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.4(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.4(LDLR):c.2068C>G (p.His690Asp) rs757009067
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2099A>G (p.Asp700Gly) rs879255139
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.2113G>C (p.Ala705Pro) rs193922570
NM_000527.4(LDLR):c.2206G>A (p.Val736Ile) rs547268730
NM_000527.4(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.4(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.4(LDLR):c.2252G>A (p.Arg751Gln) rs200142970
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2297C>T (p.Thr766Ile) rs879255173
NM_000527.4(LDLR):c.2311+1941_*1216dup
NM_000527.4(LDLR):c.2312-?_2547+?del
NM_000527.4(LDLR):c.232C>T (p.Arg78Cys) rs370860696
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.4(LDLR):c.2390-?_2547+?del
NM_000527.4(LDLR):c.2397_2412del (p.Val800fs) rs879255197
NM_000527.4(LDLR):c.2407_2424dup (p.Cys803_Leu808dup) rs879255201
NM_000527.4(LDLR):c.2411T>C (p.Leu804Pro) rs879255203
NM_000527.4(LDLR):c.241C>T (p.Arg81Cys) rs730882078
NM_000527.4(LDLR):c.2441G>A (p.Arg814Gln) rs5928
NM_000527.4(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294
NM_000527.4(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.4(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.4(LDLR):c.283T>G (p.Cys95Gly) rs879254456
NM_000527.4(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.4(LDLR):c.314-3C>T rs879254469
NM_000527.4(LDLR):c.337G>A (p.Glu113Lys) rs769383881
NM_000527.4(LDLR):c.343C>T (p.Arg115Cys) rs774723292
NM_000527.4(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.4(LDLR):c.352G>T (p.Asp118Tyr) rs730882080
NM_000527.4(LDLR):c.451G>C (p.Ala151Pro) rs763233960
NM_000527.4(LDLR):c.508G>A (p.Asp170Asn) rs139089530
NM_000527.4(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.4(LDLR):c.551G>C (p.Cys184Ser) rs121908039
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000527.4(LDLR):c.664T>C (p.Cys222Arg) rs577934998
NM_000527.4(LDLR):c.695-?_817+?del
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.799G>A (p.Glu267Lys) rs879254679
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.846C>A (p.Phe282Leu) rs730882090
NM_000527.4(LDLR):c.853C>T (p.His285Tyr) rs730882091
NM_000527.4(LDLR):c.859G>A (p.Gly287Ser) rs375495026
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.889A>C (p.Asn297His) rs879254709
NM_000527.4(LDLR):c.898A>G (p.Arg300Gly) rs767618089
NM_000527.4(LDLR):c.907C>T (p.Arg303Trp) rs151207122
NM_000527.4(LDLR):c.914G>C (p.Trp305Ser) rs879254717
NM_000527.4(LDLR):c.91G>A (p.Glu31Lys) rs776421777
NM_000527.4(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.4(LDLR):c.937T>C (p.Cys313Arg) rs879254728
NM_000527.4(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.941-?_1060+?del
NM_000527.4(LDLR):c.941-?_1586+?del
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg) rs121434333
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) rs121913596
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) rs864622732
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe) rs1553259790
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) rs281865133
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) rs786204119
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) rs121913585
NM_000530.8(MPZ):c.188_190del (p.Ser63del) rs879254109
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) rs121913601
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.276G>A (p.Val92=) rs1558154193
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) rs121913583
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr)
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter) rs1553259683
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter) rs1017715903
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) rs121913608
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) rs879253858
NM_000530.8(MPZ):c.411C>T (p.Gly137=) rs1558153994
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.431del (p.Leu144fs) rs1182353109
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.584+2T>G rs879254054
NM_000530.8(MPZ):c.645+1G>T rs281865131
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) rs281865132
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655
NM_000531.6(OTC):c.158T>C (p.Ile53Thr) rs66677059
NM_000531.6(OTC):c.292G>A (p.Glu98Lys) rs72554347
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356
NM_000531.6(OTC):c.572T>G (p.Leu191Arg) rs72556297
NM_000531.6(OTC):c.814_816GAG[1] (p.Glu273del) rs72558452
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000533.5(PLP1):c.409C>T (p.Arg137Trp) rs132630295
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) rs121918573
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000540.2(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.2(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839
NM_000540.2(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.13910C>T (p.Thr4637Ile) rs118192134
NM_000540.2(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860
NM_000540.2(RYR1):c.14378T>C (p.Leu4793Pro) rs118192179
NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.2(RYR1):c.14471T>C (p.Leu4824Pro) rs193922874
NM_000540.2(RYR1):c.14524G>A rs193922879
NM_000540.2(RYR1):c.14555A>G (p.Tyr4852Cys) rs886042826
NM_000540.2(RYR1):c.14645C>T rs193922884
NM_000540.2(RYR1):c.14717C>T (p.Ala4906Val) rs118192153
NM_000540.2(RYR1):c.14814C>G (p.Ile4938Met) rs118192159
NM_000540.2(RYR1):c.14928C>G (p.Phe4976Leu) rs368874586
NM_000540.2(RYR1):c.1589G>A (p.Arg530His) rs111888148
NM_000540.2(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.2(RYR1):c.4729G>A (p.Ala1577Thr) rs118192120
NM_000540.2(RYR1):c.528G>T (p.Glu176Asp) rs1568436081
NM_000540.2(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826
NM_000540.2(RYR1):c.97A>G (p.Lys33Glu) rs193922746
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000545.6(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242
NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) rs137853247
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.2859dup (p.Lys954fs) rs796053504
NM_000548.5(TSC2):c.3106T>C (p.Ser1036Pro) rs45517281
NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile) rs745895675
NM_000551.3(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.3(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.3(VHL):c.407T>G (p.Phe136Cys) rs5030833
NM_000551.3(VHL):c.463+3A>G rs1131690954
NM_000551.3(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.3(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.3(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.4(VHL):c.548C>T (p.Ser183Leu) rs5030823
NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000552.4(VWF):c.658-3C>A
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp) rs121918365
NM_000639.3(FASLG):c.466A>G (p.Arg156Gly) rs80358238
NM_000642.3(AGL):c.3814_3815AG[1] (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_000666.3(ACY1):c.1178G>A (p.Arg393His) rs121912701
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met) rs121918618
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp) rs886039530
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) rs121918619
NM_000709.4(BCKDHA):c.288+9C>T rs398123497
NM_000709.4(BCKDHA):c.782_784TCT[2] (p.Phe263del) rs398123505
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) rs1805031
NM_000744.6(CHRNA4):c.1007G>A (p.Arg336His) rs281865068
NM_000747.3(CHRNB1):c.516C>G (p.Tyr172Ter) rs201033437
NM_000747.3(CHRNB1):c.727C>T (p.Arg243Cys) rs199875082
NM_000751.3(CHRND):c.127C>T (p.Arg43Trp) rs55868108
NM_000756.4(CRH):c.89C>G (p.Pro30Arg) rs748404250
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) rs1567053134
NM_000782.5(CYP24A1):c.425_427AAG[1] (p.Glu143del) rs777676129
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter) rs367797185
NM_000807.4(GABRA2):c.1003A>C (p.Asn335His) rs1560442716
NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg) rs1057519201
NM_000834.4(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.4(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.4(GRIN2B):c.1721_1726TCTTTG[1] (p.574_575VF[1]) rs1555111511
NM_000834.4(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_000834.4(GRIN2B):c.2053A>C (p.Thr685Pro) rs869312669
NM_000834.4(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.4(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000834.4(GRIN2B):c.3332G>A (p.Arg1111His) rs876661167
NM_000891.2(KCNJ2):c.277G>A (p.Val93Ile) rs147750704
NM_000891.2(KCNJ2):c.901A>C (p.Met301Leu) rs786205818
NM_000891.2(KCNJ2):c.901A>G (p.Met301Val) rs786205818
NM_000891.2(KCNJ2):c.935G>A (p.Arg312His) rs786205820
NM_000891.2(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052
NM_000892.5(KLKB1):c.1643G>A (p.Cys548Tyr) rs121964951
NM_000941.3(POR):c.859G>C (p.Ala287Pro) rs121912974
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406
NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg) rs1554571225
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352
NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro) rs63751220
NM_001002294.3(FMO3):c.1302G>A (p.Met434Ile) rs72549332
NM_001004334.3(GPR179):c.984delC (p.Ser329Leufs) rs770066665
NM_001005271.3(CHD3):c.3130C>T (p.Arg1044Trp) rs1555611722
NM_001005360.2(DNM2):c.1609G>T (p.Gly537Cys) rs121909093
NM_001005360.2(DNM2):c.1684A>G (p.Lys562Glu) rs121909088
NM_001005360.2(DNM2):c.1709T>A (p.Leu570His) rs121909094
NM_001005373.3(LRSAM1):c.2093_2104del (p.Gln698_Gln701del) rs1554763017
NM_001006657.2(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_001006658.2(CR2):c.2298G>A (p.Trp766Ter) rs151093663
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) rs142812715
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)
NM_001009994.2(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367
NM_001009999.3(KDM1A):c.1739A>G (p.Asp580Gly) rs864309716
NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter) rs756868889
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) rs104894187
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp) rs138943074
NM_001017535.1(VDR):c.218G>A (p.Arg73Gln) rs121909791
NM_001018005.2(TPM1):c.240+1G>A rs730881146
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001024630.4(RUNX2):c.217del (p.Ala73fs) rs1554384228
NM_001029896.2(WDR45):c.500G>A (p.Gly167Glu) rs1131691592
NM_001031710.3(KLHL7):c.178_180GTT[1] (p.Val61del) rs1554286093
NM_001031717.4(CRELD1):c.320G>A (p.Arg107His) rs28941780
NM_001031734.4(FDX2):c.10A>T (p.Met4Leu) rs587777600
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145
NM_001034116.1(EIF2B4):c.1070G>A (p.Arg357Gln) rs113994033
NM_001034850.2(RETREG1):c.18_19del (p.Pro7fs) rs137852736
NM_001034850.2(RETREG1):c.433C>T (p.Gln145Ter) rs137852737
NM_001034850.2(RETREG1):c.826del (p.Ser276fs) rs886037748
NM_001034850.2(RETREG1):c.873+2T>C rs137852738
NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001035.3(RYR2):c.11814C>A (p.Ser3938Arg) rs794728704
NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln) rs794728786
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) rs121918602
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750
NM_001035.3(RYR2):c.848+1G>A rs772984053
NM_001037.5(SCN1B):c.448+88G>A rs267607028
NM_001037.5(SCN1B):c.449-2A>G
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247
NM_001037811.2(HSD17B10):c.194T>C (p.Val65Ala) rs104886492
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032
NM_001039523.3(CHRNA1):c.1072C>T (p.Arg358Trp) rs374391312
NM_001039550.2(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_001039550.2(DNAJB2):c.229+1G>A rs730882139
NM_001039550.2(DNAJB2):c.352+1G>A rs756614404
NM_001039591.3(USP9X):c.7431+9dup rs774054468
NM_001040108.1(MLH3):c.3826T>C (p.Trp1276Arg) rs121908439
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His) rs796053157
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_001040716.2(PC):c.467G>A (p.Arg156Gln) rs119103241
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001041.4(SI):c.5110C>T (p.Arg1704Ter) rs779803851
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys) rs79717168
NM_001042384.2(CEP63):c.31C>T (p.Arg11Ter) rs763001827
NM_001042472.3(ABHD12):c.557G>C (p.Arg186Pro) rs587777604
NM_001042492.3(NF1):c.2410-13A>G
NM_001042537.1(SLC9A6):c.526-9_526-5del rs796053290
NM_001042646.3(TRAK1):c.986T>C (p.Leu329Pro) rs770281448
NM_001042681.2(RERE):c.3249dup (p.Ser1084fs) rs745806637
NM_001042723.2(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379
NM_001042750.2(STAG2):c.1811G>A (p.Arg604Gln) rs1569515797
NM_001048171.1(MUTYH):c.1076C>T (p.Ala359Val) rs35352891
NM_001048171.1(MUTYH):c.267G>A (p.Trp89Ter) rs748170941
NM_001048171.1(MUTYH):c.891+3A>C rs587780751
NM_001048171.1(MUTYH):c.892-2A>G rs77542170
NM_001063.4(TF):c.956A>G (p.His319Arg) rs41295774
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001065.3(TNFRSF1A):c.596T>C (p.Ile199Thr) rs104895247
NM_001065.3(TNFRSF1A):c.935G>A (p.Arg312Lys) rs200900510
NM_001072.4(UGT1A6):c.1081G>A (p.Gly361Ser) rs755218546
NM_001072.4(UGT1A6):c.1195A>G (p.Asn399Asp) rs28934877
NM_001072.4(UGT1A6):c.862-5912A>T rs397978903
NM_001072.4(UGT1A6):c.862-6073T>G rs35003977
NM_001077182.3(FSCN2):c.72del (p.Thr25fs) rs376633374
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769
NM_001077488.4(GNAS):c.775C>T (p.Arg259Trp) rs137854535
NM_001077620.3(PRCD):c.2T>C (p.Met1Thr) rs527236092
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val) rs537209983
NM_001079846.1(CREBBP):c.5242C>T (p.Arg1748Cys) rs1555471394
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) rs369691608
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.399del (p.Glu133fs) rs751484879
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788
NM_001079878.2(CNGA3):c.101+1G>A rs147118493
NM_001079878.2(CNGA3):c.1225C>T (p.Arg409Cys) rs141386891
NM_001079878.2(CNGA3):c.1615G>A (p.Gly539Arg) rs104893615
NM_001079878.2(CNGA3):c.628G>A (p.Glu210Lys) rs147415641
NM_001079878.2(CNGA3):c.913G>C (p.Ala305Pro) rs146195955
NM_001080116.1(LDB3):c.383A>T (p.Lys128Met) rs121908339
NM_001080116.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001080116.1(LDB3):c.440C>T (p.Ala147Val) rs281865143
NM_001080116.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001080116.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His) rs587782989
NM_001080424.2(KDM6B):c.1081_1082AG[2] (p.Glu362fs)
NM_001080424.2(KDM6B):c.3330_3331AG[2] (p.Ser1112fs)
NM_001080424.2(KDM6B):c.3730G>T (p.Glu1244Ter) rs1567801402
NM_001080424.2(KDM6B):c.3992A>G (p.Asn1331Ser) rs1567802147
NM_001080424.2(KDM6B):c.4136A>C (p.Tyr1379Ser) rs1567802439
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
NM_001080508.3(TBX18):c.1285C>T (p.Arg429Ter) rs886041719
NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752
NM_001080522.2(CC2D2A):c.3347C>T (p.Thr1116Met) rs267606709
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001080522.2(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829
NM_001080522.2(CC2D2A):c.4340A>C (p.Glu1447Ala) rs387907058
NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132
NM_001083602.2(PTCH1):c.1124G>A (p.Arg375His) rs767273237
NM_001083602.2(PTCH1):c.197-1G>A rs368869806
NM_001083602.2(PTCH1):c.1985C>T (p.Thr662Met) rs115556836
NM_001083602.2(PTCH1):c.2281A>G (p.Ser761Gly) rs199476092
NM_001083602.2(PTCH1):c.2957C>T (p.Thr986Met) rs138911275
NM_001083602.2(PTCH1):c.491C>T (p.Thr164Ile) rs1554700630
NM_001083961.2(WDR62):c.1521G>A (p.Leu507=) rs778207666
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659
NM_001085.4(SERPINA3):c.1240A>G (p.Met414Val) rs116929575
NM_001085.4(SERPINA3):c.754C>G (p.Pro252Ala) rs17473
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260
NM_001089.3(ABCA3):c.977T>C (p.Leu326Pro) rs121909185
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) rs116840823
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938
NM_001099271.2(POC5):c.304_305del (p.Thr101_Asp102insTer) rs1561480377
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) rs199422322
NM_001101.5(ACTB):c.1078dup (p.Gln360fs) rs1562718649
NM_001101.5(ACTB):c.1097dup (p.Ser368fs) rs1554329078
NM_001101.5(ACTB):c.307G>C (p.Val103Leu) rs587779772
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001101362.2(KBTBD13):c.244G>A (p.Val82Met) rs1303411209
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile) rs397515409
NM_001101802.2(PHF21A):c.1738C>T (p.Arg580Ter) rs1565138763
NM_001103.3(ACTN2):c.1484C>T (p.Thr495Met) rs200248944
NM_001103.3(ACTN2):c.2578C>T (p.Gln860Ter) rs763078071
NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) rs121434525
NM_001103.3(ACTN2):c.574C>T (p.Arg192Ter)
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val) rs1554033934
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter) rs372615994
NM_001105537.3(ZNF142):c.3698G>T (p.Cys1233Phe) rs1275959058
NM_001105537.3(ZNF142):c.4498C>T (p.Arg1500Trp) rs367658234
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.623-3C>G rs398123622
NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys) rs1557179536
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp) rs267607186
NM_001111125.3(IQSEC2):c.4015C>T (p.Pro1339Ser)
NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001114636.1(FANCL):c.1022_1024del (p.Ile341_Cys342delinsSer) rs747253294
NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) rs759217526
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723
NM_001124758.3(SPNS2):c.952_954TCC[1] (p.Ser319del) rs749994718
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195
NM_001126112.2(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_001126112.2(TP53):c.358A>G (p.Lys120Glu) rs121912658
NM_001126112.2(TP53):c.427G>A (p.Val143Met) rs587782620
NM_001126112.2(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_001126112.2(TP53):c.530C>G (p.Pro177Arg) rs751477326
NM_001126112.2(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_001126112.2(TP53):c.541C>T (p.Arg181Cys) rs587782596
NM_001126112.2(TP53):c.566C>T (p.Ala189Val) rs121912665
NM_001126112.2(TP53):c.646G>A (p.Val216Met) rs730882025
NM_001126112.2(TP53):c.706T>C (p.Tyr236His) rs587782289
NM_001126112.2(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_001126112.2(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_001126112.2(TP53):c.714T>G (p.Cys238Trp) rs193920789
NM_001126112.2(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_001126112.2(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_001126112.2(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_001126112.2(TP53):c.770T>A (p.Leu257Gln) rs28934577
NM_001126112.2(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_001126112.2(TP53):c.796G>A (p.Gly266Arg) rs1057519990
NM_001126112.2(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_001126112.2(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_001126112.2(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_001126112.2(TP53):c.826G>C (p.Ala276Pro) rs1131691029
NM_001126112.2(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_001126112.2(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_001126112.2(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_001126112.2(TP53):c.974G>T (p.Gly325Val) rs121912659
NM_001126131.2(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127221.1(CACNA1A):c.4058C>T (p.Pro1353Leu) rs1064794808
NM_001127221.1(CACNA1A):c.4105T>C (p.Cys1369Arg) rs886041909
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001127221.1(CACNA1A):c.4900G>A (p.Asp1634Asn) rs1555740805
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127392.3(MYRF):c.2336+1G>A rs1057518279
NM_001127511.3(APC):c.-192A>G rs879253784
NM_001127593.1(FCGR3A):c.197T>A (p.Leu66His) rs10127939
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127660.1(MFN2):c.107_109AGA[2] (p.Lys38del) rs1478175861
NM_001127660.1(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_001127660.1(MFN2):c.617C>T (p.Thr206Ile) rs119103266
NM_001127671.2(LIFR):c.28C>T (p.Arg10Ter) rs3729732
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714
NM_001127713.1(ATL1):c.1065C>A (p.Asn355Lys) rs1555365597
NM_001127713.1(ATL1):c.196G>C (p.Glu66Gln) rs200314808
NM_001127713.1(ATL1):c.478T>C (p.Ser160Pro) rs886041897
NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp) rs149660944
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) rs151340624
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His) rs863225436
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627
NM_001128425.1(MUTYH):c.1163T>C (p.Leu388Pro) rs1060501335
NM_001128425.1(MUTYH):c.391T>A (p.Trp131Arg) rs730881832
NM_001128425.1(MUTYH):c.548G>A (p.Gly183Asp) rs587781864
NM_001128849.2(SMARCA4):c.4930G>A (p.Gly1644Ser) rs372319442
NM_001130144.2(LTBP3):c.2087C>G (p.Ser696Cys) rs1554974135
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[3] (p.2300_2302DQL[3]) rs587784440
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130987.2(DYSF):c.1274_1276+4dup rs1553530017
NM_001130987.2(DYSF):c.1276+5G>A rs766433603
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606
NM_001130987.2(DYSF):c.410del (p.Pro137fs) rs886043342
NM_001134363.3(RBM20):c.1156C>T (p.Gln386Ter) rs794729143
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) rs267607002
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.2927A>G (p.Asn976Ser) rs886039239
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791
NM_001135599.3(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_001136473.1(LITAF):c.*24G>A rs797044847
NM_001136473.1(LITAF):c.*42C>A rs281865135
NM_001136473.1(LITAF):c.*42C>T rs281865135
NM_001136473.1(LITAF):c.*43C>G rs797044848
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001139.3(ALOX12B):c.410T>A (p.Ile137Asn) rs397514530
NM_001142519.3(FAM111A):c.1531T>C (p.Tyr511His) rs587777012
NM_001142519.3(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_001142633.2(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863
NM_001144967.3(NEDD4L):c.2677G>A (p.Glu893Lys) rs879255597
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) rs1555214288
NM_001145112.1(PATL2):c.1108G>A (p.Gly370Arg) rs1397500378
NM_001145112.1(PATL2):c.839G>A (p.Arg280Gln) rs569729547
NM_001145112.1(PATL2):c.953T>C (p.Ile318Thr) rs1011539285
NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe) rs1560070780
NM_001145319.2(PLS1):c.713T>G (p.Leu238Arg)
NM_001145319.2(PLS1):c.805G>A (p.Glu269Lys)
NM_001145536.2(C17orf107):c.*1478G>T rs483353045
NM_001145536.2(C17orf107):c.*549C>A rs201434993
NM_001145715.2(KPNA7):c.106C>T (p.Arg36Ter) rs760378316
NM_001145847.2(PROM1):c.1552-1G>C rs372513650
NM_001146040.2(GLRA1):c.299G>A (p.Arg100His) rs281864914
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431
NM_001160036.2(RHOBTB2):c.1528A>G (p.Asn510Asp) rs1554504678
NM_001160301.1(DPYD):c.220C>T (p.Arg74Ter) rs189768576
NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg) rs1554829003
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001163213.1(FGFR3):c.1124A>G (p.Tyr375Cys) rs121913485
NM_001163213.1(FGFR3):c.1144G>A (p.Gly382Arg) rs28931614
NM_001163213.1(FGFR3):c.1625A>G (p.Asn542Ser) rs77722678
NM_001163213.1(FGFR3):c.1954A>C (p.Lys652Gln) rs78311289
NM_001163213.1(FGFR3):c.598C>T (p.Arg200Cys) rs886043613
NM_001163817.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001163817.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976
NM_001164731.2(REEP1):c.*43G>T rs377637314
NM_001164731.2(REEP1):c.223-2A>G rs387907242
NM_001164731.2(REEP1):c.524A>G (p.Ter175Trp) rs587781248
NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu) rs773684291
NM_001165927.1(MKS1):c.1352A>G (p.Tyr451Cys) rs730882120
NM_001165927.1(MKS1):c.1378-34_1378-6del rs386834043
NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp) rs137853105
NM_001165927.1(MKS1):c.1571G>A (p.Arg524Gln) rs199910690
NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser) rs786204222
NM_001165927.1(MKS1):c.387G>A (p.Glu129=) rs386834048
NM_001166107.1(HMGCS2):c.1144C>T (p.Arg382Ter) rs137852637
NM_001166107.1(HMGCS2):c.1373G>A (p.Arg458His) rs137852639
NM_001167617.2(MLH1):c.1206_1208del (p.Ile403del) rs587778920
NM_001168272.1(ITPR1):c.508C>T (p.Arg170Ter) rs886058579
NM_001168272.1(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_001168272.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile) rs1057517687
NM_001171.5(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762
NM_001171.5(ABCC6):c.2247+22T>G rs72664298
NM_001171.5(ABCC6):c.2428G>A (p.Val810Met) rs72653795
NM_001171.5(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689
NM_001171.5(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086
NM_001171.5(ABCC6):c.4253G>A (p.Arg1418Gln) rs63751262
NM_001171.5(ABCC6):c.4375C>T (p.Arg1459Cys) rs72547524
NM_001171.5(ABCC6):c.4441G>A (p.Gly1481Ser) rs63751279
NM_001171.5(ABCC6):c.496C>T (p.Arg166Cys) rs201766106
NM_001171.5(ABCC6):c.742C>T (p.Leu248Phe) rs72653756
NM_001171814.1(OAT):c.-215-3019AG[2] rs386833600
NM_001172477.1(RRM2B):c.1033G>A (p.Gly345Ser) rs387906891
NM_001172477.1(RRM2B):c.313C>T (p.Pro105Ser) rs387906892
NM_001172477.1(RRM2B):c.647C>T (p.Thr216Ile) rs515726189
NM_001172477.1(RRM2B):c.822T>A (p.Phe274Leu) rs515726194
NM_001172509.2(SATB2):c.674G>A (p.Trp225Ter) rs1553493553
NM_001172567.2(MYD88):c.779T>C (p.Leu260Pro) rs387907272
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456
NM_001174051.3(CACNA2D2):c.782C>T (p.Pro261Leu) rs1211603072
NM_001178010.2(CDC45):c.1756C>T (p.Arg586Trp) rs778665661
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001185012.1(NDUFA2):c.*41del rs863224084
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter) rs764333096
NM_001193466.2(KANSL1):c.868C>T (p.Arg290Ter) rs149830411
NM_001193466.2(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) rs1426679303
NM_001195553.2(DCX):c.557G>A (p.Arg186His) rs587783563
NM_001195553.2(DCX):c.667G>A (p.Gly223Arg) rs587783577
NM_001195573.1(DICER1):c.5365-142del rs1555366197
NM_001195794.1(CLRN1):c.118T>G (p.Cys40Gly) rs121908143
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_001195798.2(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_001195798.2(LDLR):c.1658_1660del (p.Tyr553del) rs1555806019
NM_001195798.2(LDLR):c.2397_2405del (p.Val800_Leu802del) rs875989944
NM_001195798.2(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_001195800.2(LDLR):c.314-1855C>G rs771917370
NM_001197104.1(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001198536.1(MEFV):c.*280_*282del rs104895093
NM_001198536.1(MEFV):c.*282_*284TGA[1] rs104895091
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys) rs1057519629
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224
NM_001199771.2(RDH5):c.572G>A (p.Arg191Gln) rs367757406
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163
NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp) rs1060502583
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) rs137852754
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591
NM_001204.7(BMPR2):c.968-5A>G rs1060502584
NM_001204401.1(XIAP):c.1045_1047GAG[1] (p.Glu350del) rs199683465
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001206927.2(DNAH8):c.2419C>T (p.Arg807Ter) rs567050969
NM_001211.5(BUB1B):c.2441G>A (p.Arg814His) rs28989182
NM_001211.5(BUB1B):c.2763G>C (p.Gln921His) rs28989183
NM_001220.5(CAMK2B):c.901A>G (p.Lys301Glu) rs1554385111
NM_001230.5(CASP10):c.440T>C (p.Met147Thr) rs121909776
NM_001234.5(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_001234.5(CAV3):c.290_292del (p.Phe97del) rs199476335
NM_001234.5(CAV3):c.6_7del (p.Met2fs) rs1060502318
NM_001242897.2(DEPDC5):c.1870+3527A>C rs370940232
NM_001242897.2(DEPDC5):c.2357C>T (p.Thr786Met) rs564667614
NM_001242897.2(DEPDC5):c.268G>A (p.Val90Ile) rs768456731
NM_001242897.2(DEPDC5):c.3007A>C (p.Thr1003Pro) rs142540948
NM_001242897.2(DEPDC5):c.3184A>G (p.Ser1062Gly) rs886039280
NM_001242897.2(DEPDC5):c.814G>T (p.Val272Leu) rs187334123
NM_001243766.1(POMGNT1):c.1869+27G>T rs386834024
NM_001256007.3(PNPLA8):c.2273_2274CT[1] (p.Leu759fs) rs774184465
NM_001256047.1(C19orf12):c.391A>G (p.Lys131Glu) rs146170087
NM_001256715.2(DNAAF3):c.997dup (p.Asp333fs) rs756430359
NM_001256850.1(TTN):c.39893-1G>A rs749705939
NM_001256864.2(DNAJC6):c.454C>T (p.Arg152Ter) rs864622011
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855
NM_001267550.1(TTN):c.45599C>G rs201057307
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154
NM_001267550.2(TTN):c.107788T>C (p.Trp35930Arg) rs1018591024
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn) rs147879266
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) rs372277017
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter) rs768431507
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032
NM_001267550.2(TTN):c.92279_92283AAAAG[3] (p.Ser30763fs) rs756367933
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp) rs869320744
NM_001270.2(CHD1):c.421A>G (p.Arg141Gly) rs1064795875
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320
NM_001271208.2(NEB):c.19101+5G>A rs374929094
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.2(NEB):c.2211+5G>A rs797045736
NM_001271208.2(NEB):c.24072_24075del (p.Pro8025fs) rs756384471
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.25319del (p.Gly8440fs) rs1553520266
NM_001271696.3(ABCB7):c.2044G>A (p.Gly682Ser) rs797044558
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) rs45586240
NM_001276345.2(TNNT2):c.852-2A>C rs111692981
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001277115.2(DNAH11):c.10691+2T>C rs886039341
NM_001277115.2(DNAH11):c.6664C>T (p.Arg2222Ter) rs773498002
NM_001277115.2(DNAH11):c.7772C>T (p.Pro2591Leu) rs387907258
NM_001278116.2(L1CAM):c.1939+5G>A rs879253716
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042
NM_001281463.1(SMC1A):c.3080G>A (p.Arg1027Gln) rs587784416
NM_001281492.1(MSH6):c.1225_1227CTT[1] (p.Leu410del) rs1064793600
NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp) rs202134424
NM_001282225.2(ADA2):c.145C>T (p.Arg49Trp) rs199614299
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile) rs146597836
NM_001286577.1(C2CD3):c.5267G>A (p.Gly1756Glu) rs150291837
NM_001287174.2(ABCC8):c.1672-20A>G rs931436550
NM_001287174.2(ABCC8):c.2995C>T (p.Arg999Ter) rs769518471
NM_001287174.2(ABCC8):c.4135G>C (p.Gly1379Arg) rs925231098
NM_001287174.2(ABCC8):c.4379T>G (p.Leu1460Arg) rs971604271
NM_001287344.1(BTK):c.278_280AGA[1] (p.Lys94del)
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His) rs141638421
NM_001292043.2(SETD5):c.3562del (p.Ser1188fs) rs587777329
NM_001293192.1(MUTYH):c.-3del rs786203213
NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg) rs201553871
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter) rs372504780
NM_001301365.1(LYST):c.10127A>G (p.Asn3376Ser)
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu) rs864309504
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly) rs886037934
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001304480.1(FGD4):c.1962_1963AG[1] (p.Glu655fs) rs1565921326
NM_001304480.1(FGD4):c.2213_2217AAAAG[2] (p.Lys742fs) rs751035912
NM_001304718.2(PTEN):c.-612_-610ATT[1] rs1554893765
NM_001308164.1(GFM1):c.424del (p.Val142fs) rs886058120
NM_001308211.1(EARS2):c.322C>T (p.Arg108Trp) rs376103091
NM_001308240.1(MICOS13):c.110del (p.Gly37fs) rs1568293814
NM_001314077.1(PROS1):c.1597T>C (p.Ser533Pro) rs121918472
NM_001314077.1(PROS1):c.1777C>G (p.Arg593Gly) rs121918476
NM_001318381.1(INVS):c.2494C>T (p.Arg832Ter) rs376879175
NM_001321120.2(TBX4):c.557T>G (p.Leu186Arg) rs886041115
NM_001321120.2(TBX4):c.702+1G>A rs1555883342
NM_001321851.1(TRIP11):c.583C>T (p.Gln195Ter) rs149079426
NM_001321969.1(ATAD1):c.-286G>C rs1554884979
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001330260.2(SCN8A):c.1588C>T (p.Arg530Trp) rs761336234
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_001330260.2(SCN8A):c.3955G>T (p.Ala1319Ser) rs796053214
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330368.2(C11orf65):c.641-22822_641-22814del rs587776547
NM_001330368.2(C11orf65):c.641-36828_641-36826del rs786203976
NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly) rs878854424
NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro) rs141686175
NM_001351834.2(ATM):c.5763-1050A>G rs774925473
NM_001354712.2(THRB):c.1029T>G (p.Asn343Lys) rs1354053223
NM_001354712.2(THRB):c.959G>A (p.Arg320His) rs121918693
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg) rs28999969
NM_001354723.2(VHL):c.*94_*97del rs869025664
NM_001354726.1(XPC):c.-16_-15AT[1] rs752088918
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg) rs121918649
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.841G>A (p.Val281Met) rs398123607
NM_001360.2(DHCR7):c.902A>G (p.His301Arg) rs1565586067
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001360.2(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693
NM_001361.5(DHODH):c.454G>A (p.Gly152Arg) rs267606766
NM_001361.5(DHODH):c.56G>A (p.Gly19Glu) rs267606765
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_001363.5(DKC1):c.472C>T (p.Arg158Trp) rs199422246
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812
NM_001363734.1(ASXL1):c.1359_1360TG[1] (p.Val454fs) rs777537805
NM_001365068.1(ASTN2):c.2806+26848C>T rs121434447
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) rs606231158
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) rs606231229
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) rs121908429
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) rs606231157
NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met) rs121912575
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643
NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val) rs121908920
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr) rs121908918
NM_001365536.1(SCN9A):c.1979C>T (p.Thr660Met) rs200965749
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186
NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) rs200817435
NM_001365536.1(SCN9A):c.377+5C>T rs200972952
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748
NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs) rs606231279
NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr) rs80356470
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) rs143880787
NM_001365999.1(SZT2):c.5165G>A (p.Arg1722His) rs562214305
NM_001365999.1(SZT2):c.5515C>T (p.Arg1839Cys) rs147748994
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001366385.1(CARD14):c.356T>C (p.Met119Thr)
NM_001367624.1(ZNF469):c.2699C>T (p.Pro900Leu) rs273585618
NM_001367624.1(ZNF469):c.9131C>T (p.Thr3044Met) rs273585626
NM_001369.2(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872
NM_001369.2(DNAH5):c.11653C>T (p.Arg3885Ter) rs756032160
NM_001369.2(DNAH5):c.8030G>A (p.Arg2677Gln) rs886043448
NM_001369848.1(PRSS56):c.904G>T (p.Val302Phe) rs74703359
NM_001370595.1(COA8):c.314T>C (p.Phe105Ser) rs587777786
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu) rs397514400
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val) rs1553654107
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu) rs397514402
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr) rs397514421
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys) rs750598655
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys) rs397514431
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser) rs397514347
NM_001370658.1(BTD):c.239C>T (p.Ala80Val) rs1553652171
NM_001370658.1(BTD):c.261T>G (p.Ile87Met) rs1024847163
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser) rs397514353
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.40_41del (p.Gly14fs) rs765906887
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser) rs397514366
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser) rs397514396
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_001376.5(DYNC1H1):c.1750A>C (p.Ile584Leu) rs387906741
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val) rs369614706
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) rs201479015
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys) rs755441612
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399
NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly) rs864622357
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) rs431905498
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) rs1555062849
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) rs200614421
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001377.3(DYNC2H1):c.9045T>G (p.Asp3015Glu) rs794727767
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) rs28934876
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp) rs886039347
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001414.4(EIF2B1):c.252+1G>A rs113994006
NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg) rs1057515578
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001447.2(FAT2):c.10758G>C (p.Lys3586Asn) rs770597316
NM_001447.2(FAT2):c.10946G>A (p.Arg3649Gln) rs201335279
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe) rs121909338
NM_001458.4(FLNC):c.1444C>T (p.Arg482Ter) rs1420159591
NM_001458.4(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.4(FLNC):c.6893C>T (p.Pro2298Leu) rs1382734231
NM_001492.6(GDF1):c.485G>A (p.Gly162Asp) rs121434424
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) rs28939680
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) rs28939680
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) rs863225023
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001604.5(PAX6):c.192C>A (p.Asn64Lys) rs727504064
NM_001605.2(AARS1):c.2251A>G (p.Arg751Gly) rs143370729
NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala) rs797044801
NM_001605.2(AARS1):c.2738G>A (p.Gly913Asp) rs369774476
NM_001605.2(AARS1):c.976C>T (p.Arg326Trp) rs777601008
NM_001606.5(ABCA2):c.4903del (p.Val1635fs)
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.303+1G>A rs147936696
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001611.5(ACP5):c.791T>A (p.Met264Lys) rs387906670
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu)
NM_001698.2(AUH):c.991A>T (p.Lys331Ter) rs387906757
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736
NM_001715.3(BLK):c.713G>A (p.Arg238Gln) rs141865425
NM_001734.5(C1S):c.1600C>T (p.Arg534Trp) rs121909582
NM_001754.4(RUNX1):c.1408_1409GC[4] (p.Leu472fs) rs1555884790
NM_001754.4(RUNX1):c.253C>A (p.His85Asn) rs121912500
NM_001756.4(SERPINA6):c.344T>A (p.Leu115His) rs113418909
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys)
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534
NM_001830.4(CLCN4):c.1389+5G>A rs879255590
NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val) rs879255583
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=) rs794727533
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886
NM_001846.4(COL4A2):c.1776+1G>A rs886039602
NM_001848.2(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001849.3(COL6A2):c.1493G>A (p.Arg498His) rs267606749
NM_001849.3(COL6A2):c.1496G>A (p.Gly499Glu) rs886042332
NM_001849.3(COL6A2):c.1870G>A (p.Glu624Lys) rs387906607
NM_001849.3(COL6A2):c.847G>A (p.Gly283Arg) rs267606748
NM_001849.4(COL6A2):c.2795C>T rs117725825
NM_001851.5(COL9A1):c.876+2T>A rs149830493
NM_001851.5(COL9A1):c.876+2dup rs672601329
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys) rs80356775
NM_001876.4(CPT1A):c.946C>G (p.Arg316Gly) rs80356796
NM_001902.6(CTH):c.200C>T (p.Thr67Ile) rs28941785
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409
NM_001918.4(DBT):c.1018-550A>G rs796052135
NM_001918.4(DBT):c.1430T>G (p.Met477Arg) rs398123662
NM_001918.4(DBT):c.827T>G (p.Phe276Cys) rs121964999
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001930.4(DHPS):c.1014+1G>A rs142633494
NM_001930.4(DHPS):c.1A>G (p.Met1Val) rs1306390986
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser) rs758100382
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del) rs1568317152
NM_001931.4(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_001940.4(ATN1):c.3177_3178insAACCTG (p.His1060_Leu1061insAsnLeu) rs1064795494
NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr) rs797044566
NM_001943.4(DSG2):c.829_840delCTTGAAGGGATG (p.Leu277_Met280del) rs794728093
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) rs786204291
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001958.4(EEF1A2):c.1267C>T (p.Arg423Cys) rs886039346
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.4(ELANE):c.558C>A (p.Val186=) rs878855317
NM_001972.4(ELANE):c.598-1G>A rs201117839
NM_001976.5(ENO3):c.1121G>A (p.Gly374Glu) rs121918404
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg) rs111405756
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005
NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg) rs1554122857
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr) rs794727560
NM_002016.1(FLG):c.2282_2285delCAGT rs558269137
NM_002016.2(FLG):c.2476C>T rs115746363
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg) rs137852646
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro) rs137852644
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002052.5(GATA4):c.1220C>A (p.Pro407Gln) rs115099192
NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn) rs56208331
NM_002052.5(GATA4):c.127C>T (p.Arg43Trp) rs387906770
NM_002052.5(GATA4):c.487C>T (p.Pro163Ser) rs387906769
NM_002052.5(GATA4):c.839C>T (p.Thr280Met) rs387906771
NM_002052.5(GATA4):c.909+25G>A rs147860174
NM_002052.5(GATA4):c.997+56C>A rs804280
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln) rs267607510
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084
NM_002055.5(GFAP):c.715C>G (p.Arg239Gly) rs58064122
NM_002055.5(GFAP):c.934G>T (p.Glu312Ter) rs763868966
NM_002056.4(GFPT1):c.*22C>A rs199678034
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg) rs121909124
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414
NM_002111.8(HTT):c.4463+1G>A rs1060505027
NM_002150.3(HPD):c.1005C>G (p.Ile335Met) rs137852868
NM_002163.4(IRF8):c.1279dup (p.Ter427LeuextTer?) rs1567479117
NM_002163.4(IRF8):c.602C>T (p.Ala201Val) rs144424711
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927
NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431
NM_002180.2(IGHMBP2):c.2611+1G>T rs786205090
NM_002180.2(IGHMBP2):c.2784+1G>T rs797044803
NM_002180.2(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958
NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)
NM_002185.5(IL7R):c.83-2A>T rs886060531
NM_002187.2(IL12B):c.320dup (p.Glu108fs) rs587776807
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002234.4(KCNA5):c.1580C>T (p.Thr527Met) rs121908591
NM_002234.4(KCNA5):c.913G>A (p.Ala305Thr) rs199794307
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074
NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln) rs397514673
NM_002273.4(KRT8):c.160T>C (p.Tyr54His) rs57749775
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln) rs754049402
NM_002334.4(LRP4):c.3557G>C (p.Trp1186Ser) rs387906883
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) rs746136135
NM_002354.2(EPCAM):c.426-1G>A rs373597944
NM_002386.3(MC1R):c.456C>A (p.Tyr152Ter) rs201326893
NM_002386.3(MC1R):c.464T>C (p.Ile155Thr) rs1110400
NM_002420.6(TRPM1):c.2998C>T (p.Arg1000Ter) rs369742878
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002437.5(MPV17):c.234_242del (p.Gly79_Thr81del) rs267607262
NM_002437.5(MPV17):c.268_270TTG[1] (p.Leu91del) rs267607264
NM_002437.5(MPV17):c.376-9T>G rs368900406
NM_002437.5(MPV17):c.451dup (p.Leu151fs) rs267607267
NM_002437.5(MPV17):c.70G>T (p.Gly24Trp) rs121909725
NM_002454.2(MTRR):c.1678_1681delGAGA (p.Glu560Asnfs) rs768980918
NM_002465.4(MYBPC1):c.2566T>C (p.Tyr856His) rs387906658
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) rs121913621
NM_002470.4(MYH3):c.1385A>G (p.Asp462Gly) rs121913622
NM_002470.4(MYH3):c.1986_1990del (p.Asn662fs) rs771300756
NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro) rs1567553806
NM_002471.3(MYH6):c.2384G>A (p.Arg795Gln) rs267606907
NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002471.3(MYH6):c.3195G>C (p.Gln1065His) rs267606904
NM_002471.3(MYH6):c.4369G>A (p.Glu1457Lys) rs267606905
NM_002485.4(NBN):c.171+3A>G rs1487002693
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002496.4(NDUFS8):c.229C>T (p.Arg77Trp) rs146766138
NM_002496.4(NDUFS8):c.305G>A (p.Arg102His) rs121912638
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139
NM_002529.3(NTRK1):c.1076A>G (p.Tyr359Cys) rs121964869
NM_002529.3(NTRK1):c.1804C>T (p.Arg602Ter) rs763758904
NM_002529.3(NTRK1):c.2303C>T (p.Pro768Leu)
NM_002529.3(NTRK1):c.253C>A (p.Arg85Ser) rs543320028
NM_002529.3(NTRK1):c.543del (p.Leu183fs)
NM_002529.3(NTRK1):c.638T>C (p.Leu213Pro) rs747711259
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) rs201765587
NM_002591.4(PCK1):c.134T>C (p.Ile45Thr) rs202197769
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) rs1060499542
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.1790G>A (p.Arg597Gln) rs1001570418
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) rs769827124
NM_002693.2(POLG):c.2554C>T rs144500145
NM_002693.2(POLG):c.2557C>T (p.Arg853Trp) rs121918053
NM_002693.2(POLG):c.2636A>G (p.Gln879Arg) rs368587966
NM_002693.2(POLG):c.2663G>A (p.Gly888Asp) rs878854560
NM_002693.2(POLG):c.2665G>A (p.Ala889Thr) rs763393580
NM_002693.2(POLG):c.2740A>C (p.Thr914Pro) rs139590686
NM_002693.2(POLG):c.2857C>T (p.Arg953Cys) rs11546842
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.2(POLG):c.3242G>A (p.Arg1081Gln) rs140079523
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002693.2(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.2(POLG):c.3640C>T (p.Gln1214Ter) rs781256643
NM_002693.2(POLG):c.428C>T (p.Ala143Val) rs796052899
NM_002693.2(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.2(POLG):c.844T>G (p.Tyr282Asp)
NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly) rs78437096
NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr) rs386134167
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) rs80338676
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys) rs111033564
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu) rs587776446
NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582
NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His) rs768323248
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter) rs149096315
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr) rs113993987
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) rs756205397
NM_002863.5(PYGL):c.38A>C (p.Gln13Pro) rs113993972
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp) rs113993975
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) rs121917739
NM_002878.3(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_002880.3(RAF1):c.1877A>G (p.His626Arg) rs1553609795
NM_002880.3(RAF1):c.775T>G (p.Ser259Ala) rs3730271
NM_002880.3(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_002894.3(RBBP8):c.1009A>G (p.Lys337Glu) rs121434388
NM_002937.5(RNASE4):c.-17-5583A>G rs121909541
NM_002937.5(RNASE4):c.-17-5669A>T rs121909536
NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.2(SALL1):c.949C>T (p.Pro317Ser) rs864621971
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_003000.2(SDHB):c.136C>T (p.Arg46Ter) rs74315370
NM_003000.2(SDHB):c.200+5G>C rs1553178726
NM_003000.2(SDHB):c.221A>C (p.Asp74Ala) rs876658713
NM_003000.2(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.2(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.2(SDHB):c.287G>A (p.Gly96Asp) rs778952116
NM_003000.2(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003000.2(SDHB):c.445C>T (p.Gln149Ter) rs876658451
NM_003000.2(SDHB):c.649C>G (p.Arg217Gly) rs200245469
NM_003000.2(SDHB):c.80G>A (p.Arg27Gln) rs373976827
NM_003001.3(SDHC):c.377A>G (p.Tyr126Cys) rs898854295
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys) rs202198133
NM_003002.4(SDHD):c.209G>A (p.Arg70Lys) rs755047928
NM_003002.4(SDHD):c.304C>A (p.His102Asn) rs786202403
NM_003002.4(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601
NM_003018.4(SFTPC):c.500G>A (p.Arg167Gln) rs34957318
NM_003036.4(SKI):c.103C>T (p.Pro35Ser) rs397514590
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser) rs61742739
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met) rs1064794981
NM_003051.3(SLC16A1):c.1414G>A (p.Gly472Arg) rs72552271
NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup) rs896634334
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652
NM_003060.4(SLC22A5):c.394-16T>A rs775097754
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro) rs72552723
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1130G>A (p.Arg377His) rs387906812
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu) rs779769475
NM_003098.2(SNTA1):c.770C>G (p.Ala257Gly) rs56157422
NM_003106.4(SOX2):c.571G>A (p.Ala191Thr) rs104893808
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) rs774774648
NM_003122.4(SPINK1):c.101A>G (p.Asn34Ser) rs17107315
NM_003122.4(SPINK1):c.198A>C (p.Lys66Asn) rs143014431
NM_003122.4(SPINK1):c.199C>T (p.Arg67Cys) rs515726208
NM_003122.4(SPINK1):c.1A>T (p.Met1Leu) rs369163833
NM_003122.4(SPINK1):c.206C>T (p.Thr69Ile) rs576564400
NM_003126.4(SPTA1):c.143A>G (p.Lys48Arg) rs121918644
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) rs121918639
NM_003165.4(STXBP1):c.124T>C (p.Ser42Pro) rs886041668
NM_003165.4(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_003165.4(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) rs782161777
NM_003227.4(TFR2):c.1403G>A (p.Arg468His) rs80338885
NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter) rs1051249273
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837
NM_003235.5(TG):c.6379C>T (p.Arg2127Ter) rs375424292
NM_003235.5(TG):c.638+5G>A rs774274702
NM_003239.4(TGFB3):c.-30G>A rs770828281
NM_003239.4(TGFB3):c.442C>T (p.Arg148Ter) rs1057523647
NM_003239.4(TGFB3):c.787G>C (p.Asp263His) rs796051886
NM_003239.4(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln) rs121918714
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125
NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp) rs730881061
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) rs267607124
NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln) rs267607123
NM_003283.6(TNNT1):c.31_32+1del rs944152647
NM_003380.5(VIM):c.623A>G (p.Gln208Arg) rs1085307141
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) rs387906830
NM_003384.3(VRK1):c.656G>T (p.Arg219Ile)
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003384.3(VRK1):c.761G>T (p.Trp254Leu)
NM_003392.4(WNT5A):c.206G>A (p.Cys69Tyr) rs786204837
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) rs137852765
NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg) rs137852764
NM_003476.5(CSRP3):c.233G>T (p.Gly78Val) rs963128995
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998
NM_003482.3(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.3(KMT2D):c.16295G>A (p.Arg5432Gln) rs398123734
NM_003482.3(KMT2D):c.16391C>T (p.Thr5464Met) rs267607238
NM_003482.3(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys) rs797044868
NM_003506.4(FZD6):c.286C>T (p.Arg96Cys) rs981045005
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln) rs587784332
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) rs121908685
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn) rs199935023
NM_003593.2(FOXN1):c.1201_1216del (p.Pro401fs) rs1064793129
NM_003593.2(FOXN1):c.1392_1401del (p.Pro465fs)
NM_003593.2(FOXN1):c.907del (p.Glu303fs) rs1064796115
NM_003593.2(FOXN1):c.961C>A (p.His321Asn)
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) rs749448671
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) rs312262864
NM_003620.3(PPM1D):c.1714C>T (p.Arg572Ter) rs765769406
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro) rs779027563
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2204+6T>C rs111033171
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) rs28939712
NM_003665.3(FCN3):c.349del (p.Leu117fs) rs532781899
NM_003673.3(TCAP):c.208C>T (p.Arg70Trp) rs775636212
NM_003673.3(TCAP):c.458G>A (p.Arg153His) rs149585781
NM_003676.4(DEGS1):c.395A>G (p.His132Arg) rs1558209997
NM_003680.3(YARS1):c.121G>A (p.Gly41Arg) rs121908833
NM_003680.3(YARS1):c.176T>C (p.Ile59Thr) rs774466323
NM_003680.3(YARS1):c.586G>A (p.Glu196Lys) rs121908834
NM_003688.3(CASK):c.1186C>T (p.Pro396Ser) rs137852820
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His) rs369091875
NM_003738.5(PTCH2):c.1170_1171CT[1] (p.Phe390_Ser391insTer) rs56126236
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707
NM_003764.4(STX11):c.173T>C (p.Leu58Pro) rs431905512
NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn) rs1554763777
NM_003829.4(MPDZ):c.5278G>A (p.Ala1760Thr) rs1554644827
NM_003839.4(TNFRSF11A):c.385C>T (p.Arg129Cys) rs121908657
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu) rs28936703
NM_003865.3(HESX1):c.509_510CA[1] (p.Gln171fs) rs752434998
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala) rs28936704
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941
NM_003900.5(SQSTM1):c.711_713GAA[1] (p.Lys238del) rs796052214
NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe) rs113994048
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro) rs1064794321
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_003978.5(PSTPIP1):c.364G>A (p.Val122Ile) rs886041107
NM_004004.5(GJB2):c.-260C>T rs886037626
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) rs1131691709
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004006.2(DMD):c.1329C>T (p.Ser443=) rs1060502631
NM_004006.2(DMD):c.4675-11A>G rs1557316295
NM_004006.2(DMD):c.5899C>T (p.Arg1967Ter) rs128626249
NM_004006.2(DMD):c.799C>T (p.Gln267Ter) rs878854383
NM_004006.2(DMD):c.93+5590T>A rs1557211730
NM_004017.3(DMD):c.1019+737C>T rs104894791
NM_004064.4(CDKN1B):c.-29_-26delAGAG rs774454456
NM_004064.4(CDKN1B):c.-80C>T rs551236750
NM_004082.4(DCTN1):c.167A>G (p.Lys56Arg) rs566433112
NM_004082.4(DCTN1):c.175G>A (p.Gly59Ser) rs121909342
NM_004086.3(COCH):c.355G>A (p.Ala119Thr) rs121908931
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter) rs778207102
NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu) rs397514541
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val) rs137852767
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144
NM_004168.4(SDHA):c.775del (p.Tyr259fs) rs1553998606
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln) rs138085358
NM_004183.4(BEST1):c.324C>G (p.Ser108Arg) rs1565388478
NM_004183.4(BEST1):c.418C>G (p.Leu140Val) rs267606678
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676
NM_004204.4(PIGQ):c.942+1G>A rs200661329
NM_004204.4(PIGQ):c.968_969del (p.Leu323fs) rs747661902
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.4(AIFM1):c.720C>T (p.Asp240=) rs1569418673
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448
NM_004252.5(SLC9A3R1):c.328C>G (p.Leu110Val) rs35910969
NM_004252.5(SLC9A3R1):c.458G>A (p.Arg153Gln) rs41282065
NM_004260.3(RECQL4):c.219_220AG[1] (p.Glu74fs) rs773325186
NM_004273.5(CHST3):c.475T>A (p.Phe159Ile) rs145538723
NM_004273.5(CHST3):c.911G>A (p.Arg304Gln) rs28937593
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004281.3(BAG3):c.211C>T (p.Arg71Trp) rs387906874
NM_004281.3(BAG3):c.652C>T (p.Arg218Trp) rs397514506
NM_004304.5(ALK):c.3260C>T (p.Thr1087Ile) rs113994090
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn) rs864309584
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met) rs113994091
NM_004311.4(ARL3):c.269A>G (p.Tyr90Cys) rs1564730440
NM_004311.4(ARL3):c.446G>A (p.Arg149His) rs770782663
NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro) rs147896487
NM_004320.5(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558
NM_004320.5(ATP2A1):c.2595del (p.Asn866fs) rs398124554
NM_004320.5(ATP2A1):c.2774dup (p.Met925fs) rs398124555
NM_004321.7(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_004329.2(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022
NM_004333.6(BRAF):c.722C>A (p.Thr241Lys) rs387906660
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg) rs746481984
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) rs121964871
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004366.6(CLCN2):c.1795G>A (p.Asp599Asn) rs141242566
NM_004369.3(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335
NM_004369.3(COL6A3):c.7660G>A (p.Ala2554Thr) rs786205870
NM_004369.3(COL6A3):c.9128G>A (p.Arg3043His) rs552651651
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396
NM_004376.6(COX15):c.396-3C>G rs200910834
NM_004376.6(COX15):c.452C>G (p.Ser151Ter) rs149718203
NM_004387.4(NKX2-5):c.334+1G>T rs876661380
NM_004387.4(NKX2-5):c.566G>C (p.Arg189Pro) rs786205824
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) rs104893902
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln) rs375086983
NM_004387.4(NKX2-5):c.865_867AAC[2] (p.Asn291del) rs756974215
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys) rs28931610
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg) rs1562974383
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg) rs201816920
NM_004448.3(ERBB2):c.2329G>T (p.Val777Leu) rs121913471
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) rs767795266
NM_004453.4(ETFDH):c.405+3A>T rs796051965
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly) rs538912281
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) rs118192252
NM_004519.4(KCNQ3):c.1599dup (p.Phe534fs) rs762289015
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254
NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr)
NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys) rs387906642
NM_004523.4(KIF11):c.2922G>A (p.Pro974=) rs1554863201
NM_004531.5(MOCS2):c.346_349del (p.Val116fs) rs398122798
NM_004562.3(PRKN):c.167T>A (p.Val56Glu) rs137853059
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) rs55774500
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_004563.4(PCK2):c.577C>T (p.Arg193Ter) rs753706965
NM_004586.3(RPS6KA3):c.1959+2dup rs1057518853
NM_004588.5(SCN2B):c.82C>T (p.Arg28Trp) rs17121819
NM_004614.5(TK2):c.191C>T (p.Thr64Met) rs281865487
NM_004614.5(TK2):c.547C>G (p.Arg183Gly) rs137886900
NM_004614.5(TK2):c.760C>T (p.Arg254Ter) rs281865498
NM_004615.3(TSPAN7):c.515C>A (p.Pro172His) rs104894951
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser) rs121434391
NM_004628.4(XPC):c.1001C>A (p.Pro334His) rs74737358
NM_004629.1(FANCG):c.161dup (p.His55fs) rs886063898
NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe) rs121909078
NM_004637.5(RAB7A):c.471G>C (p.Lys157Asn) rs121909081
NM_004637.5(RAB7A):c.482A>C (p.Asn161Thr) rs121909080
NM_004637.5(RAB7A):c.484G>A (p.Val162Met) rs121909079
NM_004646.3(NPHS1):c.2335-1G>A rs150038620
NM_004646.3(NPHS1):c.2464G>A (p.Val822Met) rs267606918
NM_004656.4(BAP1):c.1202_1203del (p.Asp400_Tyr401insTer) rs886058705
NM_004656.4(BAP1):c.1203T>G (p.Tyr401Ter) rs200156887
NM_004700.4(KCNQ4):c.803_805CCT[1] (p.Ser269del) rs797044966
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys) rs387906838
NM_004752.3(GCM2):c.1181A>C (p.Tyr394Ser) rs142287570
NM_004771.4(MMP20):c.954-2A>T rs140213840
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004787.4(SLIT2):c.1697G>A (p.Ser566Asn) rs200151302
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter) rs928915940
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274
NM_004855.5(PIGB):c.1220A>G (p.His407Arg) rs1566960044
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu) rs1555606635
NM_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe)
NM_004863.3(SPTLC2):c.529A>G (p.Asn177Asp) rs1131691917
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586
NM_004895.4(NLRP3):c.2759G>A (p.Arg920Gln) rs1553293095
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_004928.3(CFAP410):c.182G>A (p.Cys61Tyr) rs1057518441
NM_004933.3(CDH15):c.274C>T (p.Arg92Trp) rs121434540
NM_004946.3(DOCK2):c.3310C>T (p.Arg1104Trp) rs780318765
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004960.3(FUS):c.1292C>T (p.Pro431Leu) rs186547381
NM_004960.3(FUS):c.1564A>G (p.Arg522Gly) rs1555509693
NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter) rs763353895
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004975.4(KCNB1):c.1105T>C (p.Trp369Arg) rs1569017174
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004980.4(KCND3):c.1174G>A (p.Val392Ile) rs786205867
NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe) rs150401343
NM_004980.4(KCND3):c.1798G>A (p.Gly600Arg) rs149344567
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys) rs387907286
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp) rs864309724
NM_004992.3(MECP2):c.-99+1G>A rs786205048
NM_004992.3(MECP2):c.298C>G (p.Leu100Val) rs28935168
NM_004992.3(MECP2):c.301C>T (p.Pro101Ser) rs61754452
NM_004992.3(MECP2):c.364G>A (p.Val122Met) rs267608455
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004992.3(MECP2):c.380C>T (p.Pro127Leu) rs267608387
NM_004992.3(MECP2):c.398G>A (p.Arg133His) rs61748389
NM_004992.3(MECP2):c.401C>T (p.Ser134Phe) rs61748390
NM_004992.3(MECP2):c.403A>G (p.Lys135Glu) rs61748391
NM_004992.3(MECP2):c.454C>G (p.Pro152Ala) rs179363900
NM_004992.3(MECP2):c.472A>G (p.Thr158Ala) rs61748411
NM_004992.3(MECP2):c.568C>T (p.Arg190Cys) rs587783137
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.965C>T (p.Pro322Leu) rs61751450
NM_004994.3(MMP9):c.2T>A (p.Met1Lys) rs121434556
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_004999.4(MYO6):c.647A>T (p.Glu216Val) rs121912559
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479
NM_005045.4(RELN):c.8843+3A>C rs200124755
NM_005052.3(RAC3):c.184G>A (p.Glu62Lys) rs1064797229
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu) rs375218091
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005141.4(FGB):c.794C>T (p.Pro265Leu) rs6054
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) rs121434322
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter) rs200197424
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr) rs121912676
NM_005159.5(ACTC1):c.894C>G (p.Asn298Lys) rs863225303
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005188.3(CBL):c.1228-2A>G rs727504426
NM_005188.3(CBL):c.1259G>A (p.Arg420Gln) rs267606708
NM_005198.4(CHKB):c.1129C>T (p.Arg377Trp)
NM_005211.3(CSF1R):c.1879_1881del (p.Lys627del) rs1554101963
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp) rs606231422
NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005269.3(GLI1):c.1517T>A (p.Leu506Gln) rs753690500
NM_005272.4(GNAT2):c.461+24G>A rs397515384
NM_005359.5(SMAD4):c.1139G>A (p.Arg380Lys) rs377767353
NM_005359.5(SMAD4):c.425-6A>G rs377767327
NM_005359.5(SMAD4):c.970T>C (p.Cys324Arg) rs377767339
NM_005373.2(MPL):c.391+5G>C rs752453717
NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531
NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) rs140236996
NM_005422.2(TECTA):c.6062G>A (p.Arg2021His) rs121909062
NM_005430.4(WNT1):c.1063G>T (p.Val355Phe) rs387907358
NM_005431.2(XRCC2):c.374_377ACTT[1] (p.Leu126fs) rs763401560
NM_005431.2(XRCC2):c.96del (p.Phe32fs) rs730882048
NM_005448.2(BMP15):c.202C>T (p.Arg68Trp) rs104894763
NM_005448.2(BMP15):c.538G>A (p.Ala180Thr) rs104894767
NM_005472.4(KCNE3):c.296G>A (p.Arg99His) rs121908441
NM_005475.2(SH2B3):c.622G>C (p.Glu208Gln) rs202080221
NM_005476.7(GNE):c.1379C>T (p.Ala460Val) rs121908631
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630
NM_005477.3(HCN4):c.1209+2_1209+3insGTGA rs786205418
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His) rs1057519275
NM_005502.4(ABCA1):c.1769G>C (p.Trp590Ser) rs137854496
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) rs147324129
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) rs368906199
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005589.4(ALDH6A1):c.1603C>T (p.Arg535Cys) rs367863044
NM_005590.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384
NM_005590.4(MRE11):c.229G>T (p.Glu77Ter) rs779269083
NM_005591.4(MRE11):c.140C>T (p.Ala47Val) rs730880378
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083
NM_005603.6(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) rs1565538121
NM_005609.4(PYGM):c.425-26A>G rs764313717
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005633.3(SOS1):c.1655G>T (p.Arg552Met) rs397517154
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) rs143766249
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_005691.3(ABCC9):c.4572_4573insT (p.Val1525fs) rs761784169
NM_005691.3(ABCC9):c.4640C>T (p.Thr1547Ile) rs387906805
NM_005726.6(TSFM):c.57+4A>G rs587777689
NM_005751.4(AKAP9):c.4709C>T (p.Ser1570Leu) rs121908566
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273
NM_005861.4(STUB1):c.737C>T (p.Thr246Met) rs587777343
NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly) rs886038836
NM_005902.4(SMAD3):c.335C>T (p.Ala112Val) rs387906854
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys) rs794727798
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591
NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu) rs1057518741
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp) rs779598020
NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg) rs1057518739
NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln) rs1057518740
NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe) rs143912947
NM_005957.4(MTHFR):c.1004G>A (p.Arg335His) rs543016186
NM_005957.4(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296
NM_005957.4(MTHFR):c.548G>A (p.Arg183Gln) rs574132670
NM_005957.4(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser)
NM_005989.4(AKR1D1):c.583G>T (p.Glu195Ter) rs1433614577
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu) rs121918342
NM_005994.4(TBX2):c.914G>A (p.Arg305His) rs1555877071
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) rs28937894
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890
NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp) rs28937895
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618
NM_006009.4(TUBA1A):c.1224C>A (p.Tyr408Ter) rs753719501
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) rs1085308005
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser) rs1064795213
NM_006013.4(RPL10):c.232A>G (p.Lys78Glu) rs1131692040
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526
NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser) rs587779413
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006086.4(TUBB3):c.533C>T (p.Thr178Met) rs747480526
NM_006096.3(NDRG1):c.538-1G>A rs11575976
NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys) rs769068305
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.4(NEFL):c.48_60dup (p.Thr21fs) rs58640772
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg) rs61757261
NM_006179.4(NTF4):c.616C>T (p.Arg206Trp) rs121918427
NM_006194.3(PAX9):c.259A>T (p.Ile87Phe) rs104894468
NM_006194.3(PAX9):c.271A>G (p.Lys91Glu) rs28933373
NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr) rs121908588
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) rs777367269
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr) rs374270497
NM_006218.4(PIK3CA):c.1145G>A (p.Arg382Lys) rs587777794
NM_006231.3(POLE):c.1420G>A (p.Val474Ile) rs980578884
NM_006231.3(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.3(POLE):c.2049C>G (p.Tyr683Ter) rs1196356920
NM_006231.3(POLE):c.3019G>C (p.Ala1007Pro) rs747692201
NM_006231.3(POLE):c.4444+3A>G rs398122515
NM_006231.3(POLE):c.5265del (p.Ile1756fs) rs1555222342
NM_006260.5(DNAJC3):c.580C>T (p.Arg194Ter) rs727502865
NM_006261.4(PROP1):c.296G>A (p.Arg99Gln) rs137853100
NM_006295.3(VARS1):c.1210C>T (p.Arg404Trp) rs749228986
NM_006303.4(AIMP2):c.105C>A (p.Tyr35Ter) rs529613640
NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073
NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser) rs144288844
NM_006329.3(FBLN5):c.376G>A (p.Val126Met) rs61734479
NM_006329.3(FBLN5):c.604G>A (p.Gly202Arg) rs80338765
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782
NM_006397.2(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.2(RNASEH2A):c.635A>T (p.Asn212Ile) rs377244188
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu) rs886063722
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) rs119482081
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr) rs267607087
NM_006432.4(NPC2):c.190+5G>A rs80358268
NM_006432.4(NPC2):c.332del (p.Asn111fs) rs80358265
NM_006432.4(NPC2):c.441+1G>A rs140130028
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967