ClinVar Miner

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

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

Total variants with conflicting interpretations: 3237

HGVS dbSNP
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1
GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1
Multiple alleles
NC_000019.9:g.(11200292_11210898)_(11222316_11223953)dup
NC_000019.9:g.(11211022_11213339)_(11216277_11217240)dup
NC_000019.9:g.(11213463_11215895)_(11222316_11223953)dup
NM_000016.5(ACADM):c.134A>G (p.Gln45Arg) rs757434857
NM_000016.5(ACADM):c.177A>C (p.Glu59Asp) rs1057520214
NM_000016.5(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.5(ACADM):c.320T>C (p.Leu107Ser) rs746136472
NM_000016.5(ACADM):c.387+1delG rs786204424
NM_000016.5(ACADM):c.388-3T>G rs764942250
NM_000016.5(ACADM):c.395C>G (p.Pro132Arg) rs875989854
NM_000016.5(ACADM):c.430_432del (p.Lys144del) rs875989857
NM_000016.5(ACADM):c.503A>C (p.Asp168Ala) rs745844469
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.580A>G (p.Asn194Asp) rs773677327
NM_000016.5(ACADM):c.599+5G>A rs875989861
NM_000016.5(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) rs768884003
NM_000016.5(ACADM):c.928G>A (p.Gly310Arg) rs747268471
NM_000017.2(ACADS):c.328G>A (p.Ala110Thr) rs780571371
NM_000017.2(ACADS):c.815G>A (p.Arg272His) rs374726386
NM_000017.2(ACADS):c.910dupC (p.Leu304Profs) rs1057516606
NM_000017.2(ACADS):c.974G>A (p.Arg325Gln) rs932525260
NM_000017.3(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.3(ACADS):c.1130C>T (p.Pro377Leu) rs183161718
NM_000017.3(ACADS):c.1156C>T (p.Arg386Cys) rs537072819
NM_000017.3(ACADS):c.1192C>T (p.Gln398Ter) rs767774362
NM_000017.3(ACADS):c.814C>T (p.Arg272Cys) rs539219309
NM_000018.3(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866
NM_000018.3(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083
NM_000018.3(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.3(ACADVL):c.138+2dup rs1555527548
NM_000018.3(ACADVL):c.1468G>C (p.Ala490Pro) rs759775666
NM_000018.3(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970
NM_000018.3(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648
NM_000018.3(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.3(ACADVL):c.482C>T (p.Ala161Val) rs796051908
NM_000018.3(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.3(ACADVL):c.578G>A (p.Gly193Asp) rs1220348903
NM_000018.3(ACADVL):c.62+6T>C rs1555527495
NM_000018.3(ACADVL):c.829_831delGAG (p.Glu277del) rs796051913
NM_000018.3(ACADVL):c.896_898delAGA (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.105_109dup (p.Arg37Leufs) rs1555527532
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_000020.2(ACVRL1):c.772G>A (p.Gly258Ser) rs1555152966
NM_000022.2(ADA):c.58G>A (p.Gly20Arg) rs121908724
NM_000022.2(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000023.2(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.2(SGCA):c.541C>A (p.Arg181Ser) rs574376340
NM_000023.2(SGCA):c.614C>A (p.Pro205His) rs757481230
NM_000023.3(SGCA):c.307A>G (p.Ile103Val) rs370819630
NM_000023.4(SGCA):c.278_283delCCACCC (p.Thr94_Pro95del) rs1555568383
NM_000026.2(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
NM_000026.2(ADSL):c.1400C>G (p.Pro467Arg) rs1057521071
NM_000026.2(ADSL):c.953C>T (p.Pro318Leu) rs202064195
NM_000027.3(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000027.3(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.3(AGA):c.698+1G>T rs1057517175
NM_000033.3(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.3(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.3(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.3(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810
NM_000036.2(AMPD1):c.1261C>T (p.Arg421Trp) rs35859650
NM_000036.2(AMPD1):c.1373G>A (p.Arg458His) rs121912682
NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile) rs34526199
NM_000038.5(APC):c.1867C>T (p.Arg623Trp) rs730881238
NM_000038.5(APC):c.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.5(APC):c.3084T>A (p.Ser1028Arg) rs876660265
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.423-3T>A rs587782293
NM_000038.5(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.5(APC):c.531+3A>C rs1114167550
NM_000038.5(APC):c.835-4T>G rs756807560
NM_000038.5(APC):c.934-2A>G rs1554079938
NM_000046.4(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027
NM_000046.4(ARSB):c.1450A>G (p.Arg484Gly) rs201101343
NM_000046.4(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000048.3(ASL):c.332G>A (p.Arg111Gln) rs561367199
NM_000048.3(ASL):c.839G>A (p.Gly280Glu) rs1085307952
NM_000049.2(ASPA):c.237-2A>T rs780936696
NM_000049.2(ASPA):c.770C>G (p.Pro257Arg) rs377217076
NM_000050.4(ASS1):c.-4C>T rs138350285
NM_000050.4(ASS1):c.262C>A (p.Leu88Ile) rs895822620
NM_000050.4(ASS1):c.805G>A (p.Val269Met) rs370595480
NM_000050.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875
NM_000051.3(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.3(ATM):c.3848T>C (p.Leu1283Pro) rs730881389
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.4397_4398delGAinsCG (p.Arg1466Pro) rs886038217
NM_000051.3(ATM):c.5177+5G>A rs759373136
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415
NM_000051.3(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6385T>G (p.Tyr2129Asp) rs876658542
NM_000051.3(ATM):c.6452+2T>C rs1064795006
NM_000051.3(ATM):c.6975+2T>C rs879254199
NM_000051.3(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.3(ATM):c.7328G>A (p.Arg2443Gln) rs587782310
NM_000051.3(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del) rs587776547
NM_000051.3(ATM):c.7816A>G (p.Ile2606Val) rs376824528
NM_000051.3(ATM):c.7927+5delG rs786204437
NM_000051.3(ATM):c.7989_7991delTGT (p.Val2664del) rs876660743
NM_000051.3(ATM):c.7997C>A (p.Thr2666Asn) rs730881384
NM_000051.3(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.3(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000051.3(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.3(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.3(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.3(ATM):c.8988-2A>G rs786202087
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511
NM_000052.6(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000053.3(ATP7B):c.-676A>G rs1021025464
NM_000053.3(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.3(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.3(ATP7B):c.1946+6T>C rs751287778
NM_000053.3(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.3(ATP7B):c.19_20delCA (p.Gln7Aspfs) rs749363958
NM_000053.3(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.3(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.3(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.3(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.3(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.3(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.3(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.3(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827
NM_000053.3(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.3(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.3(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000053.3(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000055.2(BCHE):c.1584T>A (p.Tyr528Ter) rs760485585
NM_000055.3(BCHE):c.884A>G (p.Lys295Arg) rs115624085
NM_000057.3(BLM):c.2015A>G (p.Gln672Arg) rs747281324
NM_000057.3(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.3(BLM):c.3558+1G>T rs148969222
NM_000057.3(BLM):c.3751G>C (p.Glu1251Gln) rs587779888
NM_000059.3(BRCA2):c.-39-2A>G rs1555280053
NM_000059.3(BRCA2):c.229A>G (p.Thr77Ala) rs80358500
NM_000059.3(BRCA2):c.2482T>C (p.Tyr828His) rs1060502466
NM_000059.3(BRCA2):c.316+5G>A rs81002840
NM_000059.3(BRCA2):c.425G>A (p.Ser142Asn) rs397507713
NM_000059.3(BRCA2):c.426-12_426-8del5 rs276174844
NM_000059.3(BRCA2):c.4478_4481delAAAG (p.Glu1493Valfs) rs80359454
NM_000059.3(BRCA2):c.475+4delT rs276174848
NM_000059.3(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.3(BRCA2):c.5961G>T (p.Gln1987His) rs387907575
NM_000059.3(BRCA2):c.632-3C>G rs568027879
NM_000059.3(BRCA2):c.67G>A (p.Asp23Asn) rs397507881
NM_000059.3(BRCA2):c.68-1G>T rs1060502376
NM_000059.3(BRCA2):c.681+2dupT rs587781486
NM_000059.3(BRCA2):c.681+4A>G rs397507884
NM_000059.3(BRCA2):c.6842-2A>G rs1555285132
NM_000059.3(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.3(BRCA2):c.7753G>A (p.Gly2585Arg) rs80359002
NM_000059.3(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340
NM_000059.3(BRCA2):c.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.3(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.3(BRCA2):c.7857G>C (p.Trp2619Cys) rs80359011
NM_000059.3(BRCA2):c.7865A>G (p.Asn2622Ser) rs142899125
NM_000059.3(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.3(BRCA2):c.7876T>C (p.Trp2626Arg) rs1060502459
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.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.3(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.3(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
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.7978T>G (p.Tyr2660Asp) rs80359029
NM_000059.3(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.3(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000059.3(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045
NM_000059.3(BRCA2):c.8084C>T (p.Ser2695Leu) rs80359048
NM_000059.3(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.3(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.3(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.3(BRCA2):c.8169T>A (p.Asp2723Glu) rs1060502432
NM_000059.3(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064
NM_000059.3(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066
NM_000059.3(BRCA2):c.8229_8243del15 (p.Arg2744_Gly2748del) rs80359698
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075
NM_000059.3(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076
NM_000059.3(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082
NM_000059.3(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.3(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.3(BRCA2):c.8487+3A>G rs81002806
NM_000059.3(BRCA2):c.8632G>A (p.Glu2878Lys) rs398122710
NM_000059.3(BRCA2):c.8754+4A>G rs81002893
NM_000059.3(BRCA2):c.8754+4A>T rs81002893
NM_000059.3(BRCA2):c.8754+5G>A rs81002813
NM_000059.3(BRCA2):c.8755-1G>A rs81002812
NM_000059.3(BRCA2):c.8954-5A>G rs886040949
NM_000059.3(BRCA2):c.8975_9100del126 (p.Pro2992_Thr3033del) rs80359736
NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.3(BRCA2):c.9082G>C (p.Ala3028Pro) rs80359161
NM_000059.3(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.3(BRCA2):c.9227G>T (p.Gly3076Val) rs80359187
NM_000059.3(BRCA2):c.9256+2T>C rs1555288591
NM_000059.3(BRCA2):c.9284A>G (p.Asp3095Gly) rs1060502443
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.93G>T (p.Trp31Cys) rs80359214
NM_000059.3(BRCA2):c.9699_9702delTATG (p.Cys3233Trpfs) rs80359775
NM_000070.2(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.2(CAPN3):c.1069C>T (p.Arg357Trp) rs774273767
NM_000070.2(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905
NM_000070.2(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.2(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.2(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001
NM_000070.2(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512
NM_000070.2(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.2(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842
NM_000070.2(CAPN3):c.2258_2260delACG (p.Asp753del) rs886043333
NM_000070.2(CAPN3):c.2329A>G (p.Ile777Val) rs149969786
NM_000070.2(CAPN3):c.338T>C (p.Ile113Thr) rs747026964
NM_000070.2(CAPN3):c.371G>C (p.Gly124Ala) rs587780291
NM_000070.2(CAPN3):c.956C>T (p.Pro319Leu) rs121434547
NM_000070.2(CAPN3):c.964T>C (p.Tyr322His) rs149591108
NM_000070.2(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895
NM_000071.2(CBS):c.1553-1G>C rs1555869979
NM_000071.2(CBS):c.1553-2A>C rs760609383
NM_000071.2(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.2(CBS):c.457G>A (p.Gly153Arg)
NM_000071.2(CBS):c.536_553del18 (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.667-14_667-7del8 rs764160782
NM_000071.2(CBS):c.904G>A (p.Glu302Lys) rs779270933
NM_000077.4(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548
NM_000077.4(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.4(CDKN2A):c.203C>T (p.Ala68Val) rs1060501260
NM_000077.4(CDKN2A):c.206A>G (p.Glu69Gly) rs372670098
NM_000077.4(CDKN2A):c.212A>G (p.Asn71Ser) rs559848002
NM_000077.4(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
NM_000077.4(CDKN2A):c.249C>A (p.His83Gln) rs34968276
NM_000077.4(CDKN2A):c.250G>T (p.Asp84Tyr) rs11552822
NM_000077.4(CDKN2A):c.251A>C (p.Asp84Ala) rs587782792
NM_000077.4(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.4(CDKN2A):c.67G>T (p.Gly23Cys) rs1131691186
NM_000080.3(CHRNE):c.103T>C (p.Tyr35His) rs144169073
NM_000080.3(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000080.3(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000080.4(CHRNE):c.1480_*48del51insC rs1555546038
NM_000081.3(LYST):c.5719A>G (p.Ile1907Val)
NM_000081.3(LYST):c.7780+2C>T rs760108842
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000083.2(CLCN1):c.2403+5G>A rs1474520642
NM_000083.2(CLCN1):c.2831dupC (p.Gly945Argfs) rs755176513
NM_000083.2(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.2(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.2(CLCN1):c.568_569delGGinsTC (p.Gly190Ser) rs797045032
NM_000083.2(CLCN1):c.592C>G (p.Leu198Val) rs80356685
NM_000083.2(CLCN1):c.895G>C (p.Val299Leu) rs202179484
NM_000086.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) rs144751329
NM_000088.3(COL1A1):c.1691G>A (p.Arg564His) rs1800211
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000089.3(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000090.3(COL3A1):c.1204G>A (p.Gly402Ser) rs1064797017
NM_000091.4(COL4A3):c.172G>A (p.Gly58Ser) rs184730597
NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000091.4(COL4A3):c.2954G>T (p.Gly985Val) rs121912827
NM_000091.4(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291
NM_000091.4(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779
NM_000091.4(COL4A3):c.5010_*14del18 rs765655100
NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000092.4(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711
NM_000092.4(COL4A4):c.81_86delACTCAT (p.Ile29_Leu30del) rs771943519
NM_000093.4(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874
NM_000093.4(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_000093.4(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193
NM_000098.2(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856
NM_000098.2(CPT2):c.371G>C (p.Arg124Pro) rs1131691925
NM_000100.3(CSTB):c.1_2insAT (p.Met1Asnfs) rs1044894207
NM_000108.3(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.3(DLD):c.161A>G (p.Tyr54Cys) rs763303046
NM_000109.3(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000110.3(DPYD):c.220C>T (p.Arg74Ter) rs189768576
NM_000110.3(DPYD):c.2846A>T (p.Asp949Val) rs67376798
NM_000111.2(SLC26A3):c.392C>G (p.Pro131Arg) rs386833481
NM_000112.3(SLC26A2):c.1650delG (p.Ser551Valfs) rs386833497
NM_000117.2(EMD):c.470G>A (p.Arg157Gln) rs148515772
NM_000118.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_000126.3(ETFA):c.2T>C (p.Met1Thr) rs727503918
NM_000128.3(F11):c.1481-1G>T rs1057516506
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000135.2(FANCA):c.3624C>T (p.Ser1208=) rs149797103
NM_000135.2(FANCA):c.3G>T (p.Met1Ile) rs1555581729
NM_000135.3(FANCA):c.2728C>T (p.Leu910Phe) rs1216426444
NM_000135.3(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_000135.3(FANCA):c.4261-2A>C rs915983602
NM_000135.3(FANCA):c.863_866dup (p.Ser290Valfs) rs1348367722
NM_000135.3(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000137.2(FAH):c.107T>C (p.Ile36Thr) rs774648934
NM_000137.2(FAH):c.81+2T>A rs772895065
NM_000138.4(FBN1):c.1147G>A (p.Glu383Lys) rs794728325
NM_000138.4(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.4(FBN1):c.1481G>C (p.Cys494Ser) rs1057518881
NM_000138.4(FBN1):c.1537T>C (p.Cys513Arg) rs1555400279
NM_000138.4(FBN1):c.1538G>T (p.Cys513Phe) rs1060501036
NM_000138.4(FBN1):c.1678G>A (p.Gly560Ser) rs1064794283
NM_000138.4(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.4(FBN1):c.1850G>A (p.Cys617Tyr) rs1555399836
NM_000138.4(FBN1):c.185G>A (p.Arg62His) rs145942328
NM_000138.4(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.4(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.4(FBN1):c.2287T>C (p.Cys763Arg) rs1555399361
NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly) rs1555399361
NM_000138.4(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.4(FBN1):c.2861G>A (p.Arg954His) rs112911555
NM_000138.4(FBN1):c.287G>C (p.Arg96Thr) rs794728291
NM_000138.4(FBN1):c.3374G>A (p.Arg1125Gln) rs768831064
NM_000138.4(FBN1):c.3379G>A (p.Gly1127Ser) rs137854468
NM_000138.4(FBN1):c.338C>G (p.Ser113Cys) rs869025403
NM_000138.4(FBN1):c.3457T>C (p.Cys1153Arg) rs886038877
NM_000138.4(FBN1):c.3508C>T (p.Arg1170Cys) rs1366894709
NM_000138.4(FBN1):c.3557A>G (p.Tyr1186Cys) rs1555398511
NM_000138.4(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408
NM_000138.4(FBN1):c.3974A>C (p.Glu1325Ala) rs794728331
NM_000138.4(FBN1):c.4146T>A (p.Asn1382Lys) rs794728218
NM_000138.4(FBN1):c.4243T>C (p.Cys1415Arg) rs1555397557
NM_000138.4(FBN1):c.4331G>A (p.Cys1444Tyr) rs886038940
NM_000138.4(FBN1):c.433T>C (p.Cys145Arg) rs1555405031
NM_000138.4(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.4(FBN1):c.5076_5078delAAG (p.Arg1692del) rs1555396789
NM_000138.4(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.4(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.4(FBN1):c.5443G>A (p.Gly1815Ser) rs745680336
NM_000138.4(FBN1):c.5495G>A (p.Arg1832His) rs764203302
NM_000138.4(FBN1):c.5587G>A (p.Gly1863Arg) rs1555395987
NM_000138.4(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.4(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.4(FBN1):c.5747G>A (p.Cys1916Tyr) rs397515827
NM_000138.4(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.4(FBN1):c.59A>G (p.Tyr20Cys) rs201309310
NM_000138.4(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.4(FBN1):c.6403G>A (p.Asp2135Asn) rs746167150
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.6491G>A (p.Cys2164Tyr) rs1555395189
NM_000138.4(FBN1):c.6503A>G (p.Asp2168Gly) rs1555395015
NM_000138.4(FBN1):c.6541T>C (p.Cys2181Arg) rs1131691373
NM_000138.4(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.6917G>A (p.Arg2306His) rs770443276
NM_000138.4(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709
NM_000138.4(FBN1):c.701G>A (p.Gly234Asp) rs1555401670
NM_000138.4(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.4(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.4(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.4(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.4(FBN1):c.7775G>T (p.Cys2592Phe) rs112118237
NM_000138.4(FBN1):c.7879G>C (p.Gly2627Arg) rs193922239
NM_000138.4(FBN1):c.7892G>A (p.Cys2631Tyr) rs111856492
NM_000138.4(FBN1):c.7994A>G (p.Asn2665Ser) rs763173031
NM_000138.4(FBN1):c.8002G>T (p.Gly2668Cys) rs1057521100
NM_000138.4(FBN1):c.8006G>T (p.Gly2669Val) rs886038869
NM_000138.4(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_000138.4(FBN1):c.8378A>G (p.Tyr2793Cys) rs397515863
NM_000138.4(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
NM_000138.4(FBN1):c.911G>A (p.Cys304Tyr) rs1555401011
NM_000141.4(FGFR2):c.1144T>C (p.Cys382Arg) rs121913474
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000143.3(FH):c.1048C>T (p.Arg350Trp) rs755436052
NM_000143.3(FH):c.1144A>G (p.Met382Val) rs886039365
NM_000143.3(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.3(FH):c.1256C>T (p.Ser419Leu) rs1131691244
NM_000143.3(FH):c.1301G>A (p.Cys434Tyr) rs398123164
NM_000143.3(FH):c.1431_1433dupAAA (p.Lys477_Asn478insLys) rs367543046
NM_000143.3(FH):c.208G>A (p.Ala70Thr) rs587782207
NM_000143.3(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.3(FH):c.473G>A (p.Ser158Asn) rs1060500902
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000143.3(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.3(FH):c.597_599delTGC (p.Ala200del) rs786202907
NM_000143.3(FH):c.817G>A (p.Ala273Thr) rs772190176
NM_000143.3(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.3(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.3(FH):c.937G>A (p.Glu313Lys) rs863224001
NM_000143.3(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000143.3(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000146.3(FTL):c.169G>A (p.Glu57Lys) rs201241191
NM_000151.3(G6PC):c.943C>G (p.Pro315Ala) rs143321486
NM_000152.3(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000152.3(GAA):c.1392G>C (p.Arg464Ser) rs372786811
NM_000152.3(GAA):c.1552-3C>G rs375470378
NM_000152.3(GAA):c.2316G>T (p.Trp772Cys) rs1057524664
NM_000152.3(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.3(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000152.3(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000152.4(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.4(GAA):c.1556T>C (p.Met519Thr) rs786204720
NM_000152.4(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.4(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000153.3(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.3(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.3(GALC):c.2041G>A (p.Val681Met) rs200607029
NM_000153.3(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000155.3(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.3(GALT):c.157T>A (p.Trp53Arg) rs1131691837
NM_000155.3(GALT):c.329G>A (p.Gly110Glu) rs1057523885
NM_000155.3(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.3(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.3(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.3(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.3(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.3(GALT):c.814C>T (p.Arg272Cys) rs111033766
NM_000155.3(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.3(GALT):c.893T>C (p.Met298Thr) rs886042064
NM_000155.3(GALT):c.958G>A (p.Ala320Thr) rs111033795
NM_000155.3(GALT):c.982C>T (p.Arg328Cys) rs144993986
NM_000156.5(GAMT):c.507_521dup (p.Ser173_Trp174insCysAsnLeuThrSer) rs779931959
NM_000158.3(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000159.2(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.2(GCDH):c.641C>T (p.Thr214Met) rs1131692030
NM_000159.2(GCDH):c.997C>G (p.Gln333Glu) rs794726972
NM_000159.3(GCDH):c.356C>T (p.Ser119Leu) rs886043840
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890
NM_000161.2(GCH1):c.343G>A (p.Asp115Asn) rs1393095176
NM_000161.2(GCH1):c.400G>A (p.Asp134Asn) rs1353623780
NM_000161.2(GCH1):c.610G>A (p.Val204Ile) rs200891969
NM_000161.2(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000162.3(GCK):c.1020-10C>A rs193922257
NM_000162.3(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.3(GCK):c.1130_1138delGCGCTGCGC (p.Arg377_Ala379del) rs1131691505
NM_000162.3(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.3(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.3(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.3(GCK):c.146C>A (p.Thr49Asn) rs193922286
NM_000162.3(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.3(GCK):c.370G>A (p.Asp124Asn) rs759072800
NM_000162.3(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.4(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000166.5(GJB1):c.113T>G (p.Val38Gly) rs863224612
NM_000166.5(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.5(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.5(GJB1):c.178T>C (p.Cys60Arg) rs1060501004
NM_000166.5(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.5(GJB1):c.542T>A (p.Val181Glu) rs876661252
NM_000166.5(GJB1):c.610C>A (p.Leu204Ile) rs1064795540
NM_000168.5(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000168.5(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000169.2(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) rs869312163
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.619T>C (p.Tyr207His) rs372416832
NM_000170.2(GLDC):c.1926+5G>A rs1554644678
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000170.2(GLDC):c.2519T>A (p.Met840Lys) rs386833561
NM_000170.2(GLDC):c.2521G>C (p.Ala841Pro) rs386833562
NM_000170.2(GLDC):c.2607C>A (p.Pro869=) rs386833565
NM_000170.2(GLDC):c.2938A>G (p.Asn980Asp) rs772574530
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.1296T>G (p.Phe432Leu) rs863224614
NM_000179.2(MSH6):c.1304T>C (p.Leu435Pro) rs63751405
NM_000179.2(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.2(MSH6):c.2302_2304delCCT (p.Pro768del) rs63750647
NM_000179.2(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.2(MSH6):c.2926C>T (p.Arg976Cys) rs587782386
NM_000179.2(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.2(MSH6):c.3163G>C (p.Ala1055Pro) rs587779254
NM_000179.2(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.2(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.2(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.2(MSH6):c.3400G>C (p.Gly1134Arg) rs1114167697
NM_000179.2(MSH6):c.3431T>G (p.Met1144Arg) rs864622607
NM_000179.2(MSH6):c.3485_3487delCTG (p.Ala1162del) rs63751427
NM_000179.2(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000179.2(MSH6):c.3601C>G (p.Leu1201Val) rs182024561
NM_000179.2(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.2(MSH6):c.3656C>T (p.Thr1219Ile) rs63750949
NM_000179.2(MSH6):c.3722G>A (p.Cys1241Tyr) rs1021631442
NM_000179.2(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.3744_3773del30 (p.His1248_Ser1257del) rs863225412
NM_000179.2(MSH6):c.3802-7_3802-4delTCTT rs876661171
NM_000179.2(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.2(MSH6):c.4001G>C (p.Arg1334Pro) rs267608122
NM_000179.2(MSH6):c.4004_4007dupAAGT (p.Cys1337Serfs) rs876658497
NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) rs552184470
NM_000182.4(HADHA):c.1637A>G (p.Tyr546Cys) rs370170143
NM_000182.4(HADHA):c.2107G>A (p.Gly703Arg) rs200438844
NM_000182.4(HADHA):c.2114T>A (p.Val705Asp) rs1240187200
NM_000182.4(HADHA):c.403A>G (p.Lys135Glu) rs794727700
NM_000182.4(HADHA):c.914T>C (p.Ile305Thr) rs137852774
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000191.2(HMGCL):c.497+4A>G rs568718845
NM_000192.3(TBX5):c.510+5G>A rs1555226301
NM_000199.3(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.3(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.3(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000203.4(IDUA):c.1163C>A (p.Thr388Lys) rs794727896
NM_000209.3(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000214.2(JAG1):c.1339T>C (p.Cys447Arg) rs863223651
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968
NM_000215.3(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000218.2(KCNQ1):c.1029_1031dupAGC (p.Ala344_Gly345insAla) rs794728559
NM_000218.2(KCNQ1):c.1031C>A (p.Ala344Glu) rs199472763
NM_000218.2(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.2(KCNQ1):c.1135T>C (p.Trp379Arg) rs199472768
NM_000218.2(KCNQ1):c.1178A>T (p.Lys393Met) rs199472775
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1552C>G (p.Arg518Gly) rs17215500
NM_000218.2(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.2(KCNQ1):c.1697C>A (p.Ser566Tyr) rs199472804
NM_000218.2(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813
NM_000218.2(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.2(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322
NM_000218.2(KCNQ1):c.31G>A (p.Glu11Lys) rs959449103
NM_000218.2(KCNQ1):c.377A>T (p.His126Leu) rs794728579
NM_000218.2(KCNQ1):c.430A>G (p.Thr144Ala) rs199473451
NM_000218.2(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.2(KCNQ1):c.580G>C (p.Ala194Pro) rs199472699
NM_000218.2(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632
NM_000218.2(KCNQ1):c.757T>C (p.Ser253Pro) rs764781840
NM_000218.2(KCNQ1):c.820A>G (p.Ile274Val) rs199472728
NM_000218.2(KCNQ1):c.850G>A (p.Glu284Lys) rs199472734
NM_000218.2(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737
NM_000218.2(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187
NM_000219.5(KCNE1):c.173C>T (p.Thr58Ile) rs747321794
NM_000219.5(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.5(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.5(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000222.2(KIT):c.154G>A (p.Asp52Asn) rs121913505
NM_000222.2(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.2(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000227.4(LAMA3):c.2632A>T (p.Met878Leu) rs1085308017
NM_000227.4(LAMA3):c.3001C>T (p.Arg1001Ter) rs768415785
NM_000228.2(LAMB3):c.2011delC (p.Leu671Trpfs) rs1057516822
NM_000228.2(LAMB3):c.225_226delCA (p.His75Glnfs) rs886045870
NM_000228.2(LAMB3):c.298+2T>C rs1057517312
NM_000228.2(LAMB3):c.978delC (p.Phe327Leufs) rs763559509
NM_000238.3(KCNH2):c.1262C>T (p.Thr421Met) rs199472894
NM_000238.3(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_000238.3(KCNH2):c.1600C>A (p.Arg534Ser) rs199472916
NM_000238.3(KCNH2):c.188C>A (p.Pro63His) rs766379103
NM_000238.3(KCNH2):c.1954_1956delTATinsCAC (p.Tyr652His) rs794728490
NM_000238.3(KCNH2):c.1973A>G (p.Asn658Ser) rs1057523338
NM_000238.3(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979
NM_000238.3(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438
NM_000238.3(KCNH2):c.2078T>C (p.Leu693Pro) rs199472983
NM_000238.3(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.3(KCNH2):c.2204C>T (p.Ser735Leu) rs199472988
NM_000238.3(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512
NM_000238.3(KCNH2):c.2360T>A (p.Ile787Asn) rs794728387
NM_000238.3(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_000238.3(KCNH2):c.2536C>T (p.Pro846Ser) rs199473006
NM_000238.3(KCNH2):c.2660G>A (p.Arg887His) rs199473432
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803
NM_000238.3(KCNH2):c.2863C>G (p.Leu955Val) rs199473012
NM_000238.3(KCNH2):c.3099_3109delGCCCCGGGGCG (p.Pro1034Argfs) rs794728466
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.2084A>G rs104895094
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000245.3(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000245.3(MET):c.2975C>T (p.Thr992Ile) rs56391007
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.109G>C (p.Glu37Gln) rs63751012
NM_000249.3(MLH1):c.116+5G>A rs267607710
NM_000249.3(MLH1):c.117T>G (p.Cys39Trp) rs1305605404
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1637A>G (p.Lys546Arg) rs587779954
NM_000249.3(MLH1):c.1668-3C>A rs267607844
NM_000249.3(MLH1):c.1731+1G>C rs267607853
NM_000249.3(MLH1):c.1757C>A (p.Ala586Asp) rs63750587
NM_000249.3(MLH1):c.1835_1837delTTG (p.Val612del) rs63750486
NM_000249.3(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.3(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.3(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.3(MLH1):c.191A>G (p.Asn64Ser) rs63750952
NM_000249.3(MLH1):c.194G>A (p.Gly65Asp) rs63751465
NM_000249.3(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.3(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2048T>C (p.Phe683Ser) rs587778972
NM_000249.3(MLH1):c.2103+3A>G rs587778976
NM_000249.3(MLH1):c.2103G>A (p.Gln701=) rs63750603
NM_000249.3(MLH1):c.2153A>C (p.His718Pro) rs587778983
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.2262del (p.Arg755Glyfs) rs267607904
NM_000249.3(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.3(MLH1):c.292G>A (p.Gly98Ser) rs267607725
NM_000249.3(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.306G>A (p.Glu102=) rs63751665
NM_000249.3(MLH1):c.440G>A (p.Gly147Glu)
NM_000249.3(MLH1):c.492A>C (p.Lys164Asn) rs765014361
NM_000249.3(MLH1):c.545G>C (p.Arg182Thr) rs587779021
NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.3(MLH1):c.790+4A>G rs267607786
NM_000249.3(MLH1):c.884+3A>G rs267607803
NM_000249.3(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000251.2(MSH2):c.1012G>C (p.Gly338Arg) rs63751004
NM_000251.2(MSH2):c.10C>T (p.Gln4Ter)
NM_000251.2(MSH2):c.1316_1318delCTC (p.Pro439del) rs587779082
NM_000251.2(MSH2):c.1319T>C (p.Leu440Pro) rs587779084
NM_000251.2(MSH2):c.1661+5G>C rs267607972
NM_000251.2(MSH2):c.1807G>A (p.Asp603Asn) rs63750657
NM_000251.2(MSH2):c.1815_1817delTGT (p.Val606del) rs267607978
NM_000251.2(MSH2):c.1861C>G (p.Arg621Gly) rs63750508
NM_000251.2(MSH2):c.1862G>T (p.Arg621Leu) rs759263820
NM_000251.2(MSH2):c.1864C>A (p.Pro622Thr) rs63750280
NM_000251.2(MSH2):c.1865C>G (p.Pro622Arg) rs28929483
NM_000251.2(MSH2):c.1979A>G (p.Asp660Gly) rs1085308057
NM_000251.2(MSH2):c.2005+2dupT rs541623924
NM_000251.2(MSH2):c.2005+3_2005+14del12 rs587779125
NM_000251.2(MSH2):c.2005G>T (p.Gly669Cys) rs63751668
NM_000251.2(MSH2):c.2013T>A (p.Asn671Lys) rs587779127
NM_000251.2(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000251.2(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.2(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.2(MSH2):c.2087C>T (p.Pro696Leu) rs267607994
NM_000251.2(MSH2):c.2211-10T>A rs267608006
NM_000251.2(MSH2):c.2320A>G (p.Ile774Val) rs775464903
NM_000251.2(MSH2):c.2459-12A>G rs267608012
NM_000251.2(MSH2):c.2634+5G>T rs267608017
NM_000251.2(MSH2):c.2635-1G>T rs267608020
NM_000251.2(MSH2):c.2680dupA (p.Met894Asnfs) rs876658211
NM_000251.2(MSH2):c.301_306delGAAGTT (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.2(MSH2):c.997T>C (p.Cys333Arg) rs63750468
NM_000252.2(MTM1):c.1291G>A (p.Asp431Asn) rs886044782
NM_000252.2(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000255.3(MMUT):c.1084-10A>G rs777031588
NM_000255.3(MMUT):c.1956+2T>C rs750619189
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) rs397515884
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893
NM_000256.3(MYBPC3):c.1238A>G (p.Glu413Gly) rs730880532
NM_000256.3(MYBPC3):c.1418T>C (p.Phe473Ser) rs397515900
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1513_1515delAAG (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1654G>T (p.Ala552Ser) rs727504887
NM_000256.3(MYBPC3):c.1720C>T (p.Arg574Trp) rs61897383
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195
NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val) rs730880553
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys) rs727503194
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met) rs564378953
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2441_2443delAGA (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln) rs397515964
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His) rs730880568
NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp) rs727504418
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.2942A>C (p.Gln981Pro) rs730880582
NM_000256.3(MYBPC3):c.2994G>A (p.Gln998=) rs1555120639
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln) rs727504235
NM_000256.3(MYBPC3):c.3019T>C (p.Trp1007Arg) rs730880585
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile) rs397516002
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770
NM_000256.3(MYBPC3):c.3407_3409delACT (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3491-3C>G rs730880592
NM_000256.3(MYBPC3):c.3581C>T (p.Ala1194Val) rs730880594
NM_000256.3(MYBPC3):c.3584G>T (p.Gly1195Val) rs730880595
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171
NM_000256.3(MYBPC3):c.3627G>A (p.Lys1209=) rs1555120261
NM_000256.3(MYBPC3):c.3628-41_3628-17delAGCCTGGATGGCTTCCCTCCCTCTC rs36212066
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr) rs397516041
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser) rs730880573
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln) rs730880623
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) rs769167548
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.721G>C (p.Val241Leu) rs886039000
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000257.2(MYH7):c.1148A>G (p.Lys383Arg) rs397516092
NM_000257.2(MYH7):c.1273G>A (p.Gly425Arg) rs397516097
NM_000257.2(MYH7):c.1370T>C (p.Ile457Thr) rs397516103
NM_000257.2(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.2(MYH7):c.1888+1G>A rs113186231
NM_000257.2(MYH7):c.2149G>A (p.Asp717Asn) rs1057524857
NM_000257.2(MYH7):c.2206A>G (p.Ile736Val) rs397516138
NM_000257.2(MYH7):c.2332G>A (p.Asp778Asn) rs730880895
NM_000257.2(MYH7):c.2525G>A (p.Ser842Asn) rs397516154
NM_000257.2(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.2(MYH7):c.3020T>C (p.Leu1007Pro) rs730880763
NM_000257.2(MYH7):c.3645G>C (p.Gln1215His) rs863225096
NM_000257.2(MYH7):c.3883G>A (p.Glu1295Lys) rs730880785
NM_000257.2(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.2(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.2(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647
NM_000257.2(MYH7):c.5380C>A (p.Gln1794Lys) rs397516247
NM_000257.2(MYH7):c.5380C>G (p.Gln1794Glu) rs397516247
NM_000257.2(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000257.2(MYH7):c.758G>T (p.Gly253Val) rs730880853
NM_000257.2(MYH7):c.848A>G (p.Tyr283Cys) rs727503274
NM_000257.3(MYH7):c.1003G>C (p.Ala335Pro) rs727503272
NM_000257.3(MYH7):c.1013T>C (p.Val338Ala) rs397516087
NM_000257.3(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.3(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.3(MYH7):c.1106G>C (p.Arg369Pro) rs397516089
NM_000257.3(MYH7):c.1193G>A (p.Gly398Glu) rs730880158
NM_000257.3(MYH7):c.1220G>T (p.Gly407Val) rs397516095
NM_000257.3(MYH7):c.1231G>A (p.Val411Ile) rs730880868
NM_000257.3(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.3(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.3(MYH7):c.1477_1478delAT (p.Met493Valfs) rs727504336
NM_000257.3(MYH7):c.1532T>C (p.Ile511Thr) rs397516110
NM_000257.3(MYH7):c.1633G>A (p.Asp545Asn) rs564101364
NM_000257.3(MYH7):c.1826A>G (p.Tyr609Cys) rs727504925
NM_000257.3(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.3(MYH7):c.2012G>A (p.Arg671His) rs730880883
NM_000257.3(MYH7):c.2080C>T (p.Arg694Cys) rs727504240
NM_000257.3(MYH7):c.2081G>A (p.Arg694His) rs886039030
NM_000257.3(MYH7):c.2153T>G (p.Phe718Cys) rs1060501432
NM_000257.3(MYH7):c.2156G>C (p.Arg719Pro) rs121913641
NM_000257.3(MYH7):c.2213G>C (p.Ser738Thr) rs730880894
NM_000257.3(MYH7):c.2348G>A (p.Arg783His) rs397516142
NM_000257.3(MYH7):c.2378G>A (p.Arg793Gln) rs730880896
NM_000257.3(MYH7):c.2464A>T (p.Met822Leu) rs730880742
NM_000257.3(MYH7):c.2471T>C (p.Val824Ala) rs727503255
NM_000257.3(MYH7):c.2536G>C (p.Glu846Gln) rs730880748
NM_000257.3(MYH7):c.2539_2541delAAG (p.Lys847del) rs397516155
NM_000257.3(MYH7):c.2543A>G (p.Glu848Gly) rs727504311
NM_000257.3(MYH7):c.2606G>A (p.Arg869His) rs202141173
NM_000257.3(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.3(MYH7):c.2761G>A (p.Glu921Lys) rs730880759
NM_000257.3(MYH7):c.2863G>A (p.Asp955Asn) rs886039204
NM_000257.3(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.3(MYH7):c.298G>A (p.Ala100Thr) rs730880154
NM_000257.3(MYH7):c.3337G>A (p.Ala1113Thr) rs193922388
NM_000257.3(MYH7):c.341T>C (p.Ile114Thr) rs730880833
NM_000257.3(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000257.3(MYH7):c.3621C>G (p.Ile1207Met) rs529700838
NM_000257.3(MYH7):c.3622G>A (p.Asp1208Asn) rs730880781
NM_000257.3(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097
NM_000257.3(MYH7):c.4076G>A (p.Arg1359His) rs750836033
NM_000257.3(MYH7):c.427C>T (p.Arg143Trp) rs727503278
NM_000257.3(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244
NM_000257.3(MYH7):c.4470G>C (p.Glu1490Asp) rs730880911
NM_000257.3(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218
NM_000257.3(MYH7):c.452C>T (p.Pro151Leu) rs730880837
NM_000257.3(MYH7):c.4817G>A (p.Arg1606His) rs373514686
NM_000257.3(MYH7):c.4954G>T (p.Asp1652Tyr) rs397516233
NM_000257.3(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000257.3(MYH7):c.511A>C (p.Asn171His) rs730880842
NM_000257.3(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.3(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340
NM_000257.3(MYH7):c.5305C>A (p.Leu1769Met) rs139222507
NM_000257.3(MYH7):c.5342G>A (p.Arg1781His) rs397516246
NM_000257.3(MYH7):c.5344A>G (p.Met1782Val) rs727504385
NM_000257.3(MYH7):c.5399C>T (p.Ala1800Val) rs730880817
NM_000257.3(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645
NM_000257.3(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072
NM_000257.3(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.3(MYH7):c.5530G>A (p.Glu1844Lys) rs730880821
NM_000257.3(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000257.3(MYH7):c.5561C>T (p.Thr1854Met) rs372381770
NM_000257.3(MYH7):c.5690G>A (p.Arg1897His) rs727503240
NM_000257.3(MYH7):c.611G>A (p.Arg204His) rs397516260
NM_000257.3(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.3(MYH7):c.619A>C (p.Lys207Gln) rs727504273
NM_000257.3(MYH7):c.676G>A (p.Ala226Thr) rs1057517773
NM_000257.3(MYH7):c.725C>G (p.Ser242Cys) rs730880921
NM_000257.3(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000257.3(MYH7):c.732+2T>G rs1555338658
NM_000257.3(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.3(MYH7):c.789A>G (p.Ile263Met) rs730880855
NM_000257.3(MYH7):c.872C>T (p.Ser291Phe) rs397516272
NM_000257.3(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000257.3(MYH7):c.964T>A (p.Ser322Thr) rs730880859
NM_000257.3(MYH7):c.976G>C (p.Ala326Pro) rs372731424
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1498_1500del (p.Glu500del) rs1555338254
NM_000257.4(MYH7):c.2510A>T (p.Lys837Met) rs1060501439
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) rs727503254
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) rs397516179
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys) rs397516241
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.2(MYL3):c.184G>A (p.Asp62Asn) rs730880954
NM_000258.2(MYL3):c.235G>A (p.Val79Ile) rs150634297
NM_000258.2(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000258.2(MYL3):c.451G>A (p.Ala151Thr) rs869025486
NM_000258.2(MYL3):c.454G>A (p.Glu152Lys) rs199474705
NM_000258.2(MYL3):c.461G>A (p.Arg154His) rs104893749
NM_000258.2(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000260.3(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511
NM_000260.3(MYO7A):c.132+5G>A rs397516284
NM_000260.3(MYO7A):c.1403_1404insGCA (p.Arg467_His468insGln) rs111033219
NM_000260.3(MYO7A):c.1619C>A (p.Pro540His) rs782607566
NM_000260.3(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.3(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.3(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.3(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.3(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.3(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838
NM_000260.3(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.3(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322
NM_000260.3(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323
NM_000260.3(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.3(MYO7A):c.631A>G (p.Ser211Gly) rs111033486
NM_000260.3(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513
NM_000260.3(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.3(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000263.3(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000264.3(PTCH1):c.395-1G>A rs368869806
NM_000264.4(PTCH1):c.297C>T (p.Gly99=) rs772407797
NM_000264.4(PTCH1):c.3191C>T (p.Thr1064Met) rs368417828
NM_000264.4(PTCH1):c.3241G>A (p.Val1081Met) rs587778629
NM_000264.4(PTCH1):c.3889C>T (p.Arg1297Trp) rs372027952
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000267.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_000267.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_000267.3(NF1):c.2990+5G>A rs1555614464
NM_000267.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_000267.3(NF1):c.3502G>C (p.Gly1168Arg) rs878853883
NM_000267.3(NF1):c.4172G>C (p.Arg1391Thr) rs1555618516
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4310A>G (p.Glu1437Gly) rs878853894
NM_000267.3(NF1):c.4973_4978delTCTATA (p.Ile1658_Tyr1659del) rs1135402868
NM_000267.3(NF1):c.5648A>G (p.Asn1883Ser) rs864622647
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.6858+3A>G rs1085307885
NM_000267.3(NF1):c.959C>A (p.Ala320Asp) rs1555610884
NM_000271.4(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232
NM_000271.4(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.4(NPC1):c.1301C>T (p.Pro434Leu) rs774333145
NM_000271.4(NPC1):c.1947+5G>C rs770321568
NM_000271.4(NPC1):c.2849T>G (p.Val950Gly) rs1057517978
NM_000271.4(NPC1):c.2972_2973delAG (p.Gln991Argfs) rs756815030
NM_000271.4(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.4(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.4(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.4(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.4(NPC1):c.3493G>A (p.Val1165Met) rs748862167
NM_000271.4(NPC1):c.410C>T (p.Thr137Met) rs372947142
NM_000271.4(NPC1):c.813_815delCAT (p.Ile271del) rs1243863645
NM_000274.3(OAT):c.1311G>T (p.Leu437Phe) rs1800456
NM_000274.3(OAT):c.192_193delAG (p.Gly65Lysfs) rs386833600
NM_000275.2(OCA2):c.1183A>C (p.Met395Leu) rs757286784
NM_000275.2(OCA2):c.1322A>G (p.Asp441Gly) rs147816326
NM_000275.2(OCA2):c.2020C>G (p.Leu674Val) rs371412500
NM_000275.2(OCA2):c.2207C>T (p.Ser736Leu) rs780296175
NM_000275.2(OCA2):c.2425T>A (p.Phe809Ile) rs765779905
NM_000275.2(OCA2):c.593C>T (p.Pro198Leu) rs183487020
NM_000275.2(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459
NM_000277.1(PAH):c.212G>A (p.Arg71His) rs62508695
NM_000277.1(PAH):c.559T>C (p.Trp187Arg) rs62507272
NM_000277.1(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.2(PAH):c.1200-8G>A rs62507261
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) rs281865431
NM_000277.2(PAH):c.441+4A>G rs62508586
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.464G>C (p.Arg155Pro) rs199475663
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.511G>A (p.Gly171Arg) rs199475613
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn) rs199475671
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.800A>T (p.Gln267Leu) rs778154939
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.812A>T (p.His271Leu) rs199475692
NM_000277.3(PAH):c.841C>T (p.Pro281Ser) rs199475654
NM_000277.3(PAH):c.842+4A>G rs1555204434
NM_000282.3(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000282.3(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000282.3(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981
NM_000283.3(PDE6B):c.739T>A (p.Phe247Ile) rs780521818
NM_000284.3(PDHA1):c.311T>C (p.Leu104Pro) rs794727621
NM_000286.2(PEX12):c.1009C>T (p.Gln337Ter) rs760739894
NM_000286.2(PEX12):c.681-2A>C rs187526749
NM_000287.3(PEX6):c.1130+2T>C rs1416001981
NM_000287.3(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000288.3(PEX7):c.340-10A>G rs267608255
NM_000288.3(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000291.3(PGK1):c.639C>T (p.Gly213=) rs797044505
NM_000295.4(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869
NM_000295.4(SERPINA1):c.745G>C (p.Gly249Arg) rs764220898
NM_000296.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_000296.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419
NM_000296.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_000297.3:c.2208_2213delAAACTT
NM_000299.3(PKP1):c.1199C>T (p.Pro400Leu) rs483352688
NM_000302.3(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000303.2(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.2(PMM2):c.91T>C (p.Phe31Leu) rs749720760
NM_000304.2(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.2(PMP22):c.308A>G (p.Gln103Arg) rs786204064
NM_000304.3(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.3(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000310.3(PPT1):c.272A>C (p.Gln91Pro) rs386833639
NM_000310.3(PPT1):c.287G>A (p.Cys96Tyr) rs386833640
NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) rs386833646
NM_000314.4(PTEN):c.1133_1136delGATA (p.Arg378Ilefs) rs1064794878
NM_000314.4(PTEN):c.44G>A (p.Arg15Lys) rs398123324
NM_000314.4(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.4(PTEN):c.610C>G (p.Pro204Ala) rs786204868
NM_000314.4(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.4(PTEN):c.802-2delA rs886047397
NM_000314.4(PTEN):c.947T>C (p.Leu316Pro) rs1064793345
NM_000314.6(PTEN):c.-1195_-1184delAAGCCGCAGCAA rs587781340
NM_000314.6(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.6(PTEN):c.1A>G (p.Met1Val) rs1554890324
NM_000314.6(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.6(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.6(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.6(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.6(PTEN):c.635-3C>G rs1085308056
NM_000314.6(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.6(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.6(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.6(PTEN):c.97_99delATT (p.Ile33del) rs1554893765
NM_000314.7(PTEN):c.1027-1G>A rs1057517809
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.112C>T (p.Pro38Ser) rs587780004
NM_000314.7(PTEN):c.170T>G (p.Leu57Trp) rs786202398
NM_000314.7(PTEN):c.181C>G (p.His61Asp) rs121909236
NM_000314.7(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.7(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000317.2(PTS):c.347A>G (p.Asp116Gly) rs104894279
NM_000317.2(PTS):c.83+1G>A rs927103678
NM_000321.2(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000329.2(RPE65):c.419G>A (p.Gly140Glu) rs1191496583
NM_000329.2(RPE65):c.499G>T (p.Asp167Tyr) rs61752883
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu) rs121908552
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) rs121908552
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met) rs778820577
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000339.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380
NM_000339.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000344.3(SMN1):c.818A>T (p.His273Leu) rs1554082114
NM_000350.2(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420
NM_000350.2(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.2(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.2(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.2(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.2(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559
NM_000350.2(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410
NM_000350.2(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.2(ABCA4):c.2023G>A (p.Val675Ile) rs575453437
NM_000350.2(ABCA4):c.203C>T (p.Pro68Leu) rs62654397
NM_000350.2(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437
NM_000350.2(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.2(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.2(ABCA4):c.2966T>C (p.Val989Ala) rs61749454
NM_000350.2(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.2(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060
NM_000350.2(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368
NM_000350.2(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402
NM_000350.2(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.2(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.2(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.2(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.2(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.2(ABCA4):c.656G>C (p.Arg219Thr) rs61748537
NM_000350.2(ABCA4):c.6729+5_6729+19delGTTGGCCCTGGGGCA rs749526785
NM_000350.2(ABCA4):c.71G>A (p.Arg24His) rs62645958
NM_000352.4(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790
NM_000352.4(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.4(ABCC8):c.4178G>A (p.Arg1393His) rs769279368
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.3(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000359.2(TGM1):c.967C>T (p.Arg323Trp) rs771820315
NM_000360.3(TH):c.1400A>G (p.Asp467Gly) rs771351747
NM_000363.4(TNNI3):c.204delG (p.Arg69Alafs) rs727504872
NM_000363.4(TNNI3):c.302A>G (p.His101Arg) rs730881087
NM_000363.4(TNNI3):c.370G>C (p.Glu124Gln) rs727503506
NM_000363.4(TNNI3):c.407G>A (p.Arg136Gln) rs730881069
NM_000363.4(TNNI3):c.421C>T (p.Arg141Trp) rs730881071
NM_000363.4(TNNI3):c.428C>A (p.Thr143Asn) rs397516348
NM_000363.4(TNNI3):c.451G>A (p.Ala151Thr) rs730881072
NM_000363.4(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000363.4(TNNI3):c.497C>T (p.Ser166Phe) rs727504242
NM_000363.4(TNNI3):c.508C>G (p.Arg170Gly) rs727503504
NM_000363.4(TNNI3):c.526G>A (p.Val176Met) rs727503501
NM_000363.4(TNNI3):c.562G>A (p.Val188Met) rs193922409
NM_000363.4(TNNI3):c.592C>G (p.Leu198Val) rs727504285
NM_000363.4(TNNI3):c.596G>A (p.Ser199Asn) rs730881091
NM_000363.4(TNNI3):c.610C>T (p.Arg204Cys) rs727504243
NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000364.3(TNNT2):c.877C>T (p.Arg293Cys) rs367785431
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000369.2(TSHR):c.202C>T (p.Pro68Ser) rs142063461
NM_000369.2(TSHR):c.394G>C (p.Gly132Arg) rs760874290
NM_000371.3(TTR):c.130C>T (p.Pro44Ser) rs11541790
NM_000371.3(TTR):c.165G>T (p.Lys55Asn)
NM_000371.3(TTR):c.239C>T (p.Thr80Ile)
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.4(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000373.3(UMPS):c.857T>A (p.Ile286Asn) rs200305064
NM_000379.3(XDH):c.1686+1G>C rs148412639
NM_000380.3(XPA):c.323G>A (p.Cys108Tyr) rs104894131
NM_000381.3(MID1):c.1361A>G (p.Gln454Arg) rs1556004400
NM_000382.2(ALDH3A2):c.28C>T (p.Gln10Ter)
NM_000384.2(APOB):c.10579C>T (p.Arg3527Trp) rs144467873
NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.2(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.2(APOB):c.13480_13482delCAG (p.Gln4494del) rs562574661
NM_000384.2(APOB):c.3491G>C (p.Arg1164Thr) rs759845943
NM_000384.2(APOB):c.9175C>T (p.Arg3059Cys) rs146377316
NM_000388.3(CASR):c.1189G>A (p.Gly397Arg) rs1064794291
NM_000388.3(CASR):c.206G>A (p.Arg69His) rs193922432
NM_000388.3(CASR):c.659G>A (p.Arg220Gln) rs1202110240
NM_000391.3(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.3(TPP1):c.1058C>A (p.Thr353Asn) rs145966505
NM_000391.3(TPP1):c.887-18A>G rs935526225
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000393.3(COL5A2):c.1A>G (p.Met1Val) rs563606558
NM_000393.3(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317
NM_000393.3(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.4(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000396.3(CTSK):c.541T>C (p.Tyr181His) rs868112062
NM_000397.3(CYBB):c.1231A>T (p.Ile411Phe) rs1057521937
NM_000399.3(EGR2):c.1066G>C (p.Glu356Gln) rs751448371
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000404.2(GLB1):c.1343A>T (p.Asp448Val) rs757926581
NM_000404.3(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.3(GLB1):c.145C>T (p.Arg49Cys) rs72555358
NM_000404.3(GLB1):c.481T>G (p.Trp161Gly) rs398123355
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000411.6(HLCS):c.1533dupT (p.Val512Cysfs) rs767533946
NM_000411.7(HLCS):c.1680+1G>A rs1175936807
NM_000414.3(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413
NM_000414.3(HSD17B4):c.394C>T (p.Arg132Trp) rs773305477
NM_000414.3(HSD17B4):c.743G>A (p.Arg248His) rs748057401
NM_000414.3(HSD17B4):c.868+1delG
NM_000426.3(LAMA2):c.149C>T (p.Ala50Val)
NM_000426.3(LAMA2):c.6992+5G>A rs1221715098
NM_000426.3(LAMA2):c.715C>T (p.Arg239Cys) rs145465528
NM_000426.3(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000428.2(LTBP2):c.3571G>A (p.Glu1191Lys) rs137854862
NM_000429.2(MAT1A):c.529C>T (p.Arg177Trp) rs376757912
NM_000431.2(MVK):c.904C>T (p.Gln302Ter) rs886048933
NM_000431.3(MVK):c.1139A>G (p.His380Arg) rs104895324
NM_000432.3(MYL2):c.163G>T (p.Ala55Ser) rs727504425
NM_000432.3(MYL2):c.170G>A (p.Gly57Glu) rs199474809
NM_000432.3(MYL2):c.260G>C (p.Gly87Ala) rs397516399
NM_000432.3(MYL2):c.308T>G (p.Phe103Cys) rs547860537
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000432.3(MYL2):c.3G>A (p.Met1Ile) rs1555258369
NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000432.3(MYL2):c.426delC (p.Pro144Leufs) rs786205430
NM_000432.3(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000432.3(MYL2):c.488A>G (p.Glu163Gly) rs397516407
NM_000435.2(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101
NM_000440.2(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207
NM_000440.2(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000441.1(SLC26A4):c.-103T>C rs60284988
NM_000441.1(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.1(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.1(SLC26A4):c.1522A>G (p.Thr508Ala) rs727505088
NM_000441.1(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421
NM_000441.1(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424
NM_000441.1(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.1(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119
NM_000441.1(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.1(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454
NM_000443.3(ABCB4):c.959C>T (p.Ser320Phe) rs72552778
NM_000444.5(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000447.2(PSEN2):c.448G>A (p.Val150Met) rs866044092
NM_000448.2(RAG1):c.2981A>G (p.His994Arg) rs775412266
NM_000448.2(RAG1):c.335G>A (p.Arg112His) rs749223640
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_000455.4(STK11):c.1088C>T (p.Thr363Ile) rs587778695
NM_000455.4(STK11):c.155_157delGGG (p.Gly52del) rs1131690917
NM_000455.4(STK11):c.159_170delCCTGCTGGGGGA (p.Asp53_Gly56del) rs1131690953
NM_000455.4(STK11):c.407T>C (p.Met136Thr) rs1060499958
NM_000455.4(STK11):c.481A>T (p.Ile161Phe) rs1131690938
NM_000455.4(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_000455.4(STK11):c.725G>A (p.Gly242Glu)
NM_000455.4(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000455.4(STK11):c.971C>T (p.Pro324Leu) rs367807476
NM_000457.4(HNF4A):c.991C>T (p.Arg331Cys) rs193922479
NM_000458.3(HNF1B):c.884G>A (p.Arg295His) rs886043813
NM_000463.2(UGT1A1):c.674T>G (p.Val225Gly) rs35003977
NM_000465.3(BARD1):c.2002-2A>C rs876658260
NM_000465.3(BARD1):c.2002-2A>T rs876658260
NM_000465.3(BARD1):c.2300_2301delTG (p.Val767Aspfs) rs750413473
NM_000466.2:c.1743_1796del rs1554372756
NM_000478.5(ALPL):c.550C>T (p.Arg184Trp) rs763159520
NM_000481.3(AMT):c.217C>T (p.Arg73Cys) rs386833679
NM_000481.3(AMT):c.887G>A (p.Arg296His) rs386833690
NM_000487.5(ARSA):c.1174C>T (p.Arg392Trp) rs74315480
NM_000487.5(ARSA):c.1175G>A (p.Arg392Gln) rs199476391
NM_000487.5(ARSA):c.931G>A (p.Gly311Ser) rs74315459
NM_000487.6(ARSA):c.369_374delCGGCAAinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) rs786200965
NM_000492.3(CFTR):c.-165G>A rs145483167
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.137C>T (p.Ala46Val)
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.1684G>C (p.Val562Leu) rs1800097
NM_000492.3(CFTR):c.1826A>T (p.His609Leu) rs397508310
NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
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.2252G>T (p.Arg751Leu) rs397508357
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
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.2936A>C (p.Asp979Ala) rs397508462
NM_000492.3(CFTR):c.2939T>A (p.Ile980Lys) rs397508463
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3200C>T (p.Ala1067Val) rs1800114
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.3468G>A (p.Leu1156=) rs139729994
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3717+40A>G rs397508595
NM_000492.3(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000492.3(CFTR):c.592G>A (p.Ala198Thr) rs193922529
NM_000492.3(CFTR):c.601G>A (p.Val201Met) rs138338446
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.846A>T (p.Glu282Asp) rs142864834
NM_000492.3(CFTR):c.869+5G>A rs533959068
NM_000501.3(ELN):c.659C>T (p.Pro220Leu) rs201012726
NM_000512.4(GALNS):c.181C>T (p.Arg61Trp) rs145798311
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.-75G>C rs63750400
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000520.5(HEXA):c.1549dup (p.Leu517Profs) rs1555472161
NM_000520.5(HEXA):c.530C>G (p.Ser177Cys) rs1064794856
NM_000520.5(HEXA):c.536A>G (p.His179Arg) rs747372270
NM_000520.5(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000521.3(HEXB):c.1509-26G>A rs201580118
NM_000523.3(HOXD13):c.820C>T (p.Arg274Ter) rs200750564
NM_000525.3(KCNJ11):c.718dup (p.Met240Asnfs) rs1554901718
NM_000525.3(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753
NM_000527.4(LDLR):c.-101T>C rs747068848
NM_000527.4(LDLR):c.-121T>C rs777716188
NM_000527.4(LDLR):c.-136C>G rs879254374
NM_000527.4(LDLR):c.-138T>C rs879254372
NM_000527.4(LDLR):c.-140C>A rs875989887
NM_000527.4(LDLR):c.-140C>G rs875989887
NM_000527.4(LDLR):c.-140C>T rs875989887
NM_000527.4(LDLR):c.-149C>A rs879254368
NM_000527.4(LDLR):c.-153C>T rs879254366
NM_000527.4(LDLR):c.-155_-154delACinsTTCTGCAAACTCCT rs879254365
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.4(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.4(LDLR):c.1060+10G>A rs12710260
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1066G>C (p.Asp356His) 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.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.1088C>A (p.Thr363Asn) rs200533979
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.1166C>T (p.Thr389Met) rs149227308
NM_000527.4(LDLR):c.1167G>A (p.Thr389=) rs139066906
NM_000527.4(LDLR):c.1186+5G>A rs879254821
NM_000527.4(LDLR):c.1186+5G>C rs879254821
NM_000527.4(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1207_1209del (p.Phe403del) rs879254830
NM_000527.4(LDLR):c.1210A>C (p.Thr404Pro) rs879254834
NM_000527.4(LDLR):c.1217G>A (p.Arg406Gln) rs552422789
NM_000527.4(LDLR):c.1230G>C (p.Arg410Ser) rs879254839
NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) rs368562025
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.1307T>C (p.Val436Ala) rs779732323
NM_000527.4(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.4(LDLR):c.1359-5C>G rs531005522
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.1403T>A (p.Val468Asp) rs879254890
NM_000527.4(LDLR):c.1418T>A (p.Ile473Asn) rs879254895
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1455C>G (p.His485Gln) rs879254908
NM_000527.4(LDLR):c.1460A>G (p.Asn487Ser) rs879254912
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.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.4(LDLR):c.1552A>G (p.Lys518Glu) rs879254937
NM_000527.4(LDLR):c.1567G>T (p.Val523Leu) rs28942080
NM_000527.4(LDLR):c.1570G>A (p.Val524Met) rs730882105
NM_000527.4(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.4(LDLR):c.1585G>C (p.Gly529Arg) rs730882108
NM_000527.4(LDLR):c.1586+5G>A rs781362878
NM_000527.4(LDLR):c.1640T>C (p.Leu547Pro) rs879254968
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.171_173delTGA (p.Asp57del) rs879254421
NM_000527.4(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.4(LDLR):c.1721G>A (p.Arg574His) rs777188764
NM_000527.4(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.4(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.4(LDLR):c.1750T>C (p.Ser584Pro) rs879255010
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.1796T>C (p.Leu599Ser) rs879255025
NM_000527.4(LDLR):c.1800G>C (p.Glu600Asp) rs764104777
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1840T>A (p.Phe614Ile) rs879255043
NM_000527.4(LDLR):c.1845+15C>A rs759867686
NM_000527.4(LDLR):c.1845G>A (p.Glu615=) rs879255047
NM_000527.4(LDLR):c.1846-10G>T rs368243304
NM_000527.4(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.4(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.4(LDLR):c.188G>A (p.Cys63Tyr) rs879254427
NM_000527.4(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.1907G>A (p.Gly636Asp) rs879255072
NM_000527.4(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.4(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.4(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.4(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.4(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.4(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.4(LDLR):c.1958T>G (p.Val653Gly) rs879255086
NM_000527.4(LDLR):c.1960C>T (p.Leu654Phe) rs879255087
NM_000527.4(LDLR):c.1982C>T (p.Pro661Leu) rs1057519680
NM_000527.4(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.4(LDLR):c.202T>C (p.Cys68Arg) rs1057519652
NM_000527.4(LDLR):c.2041T>A (p.Cys681Ser) rs879255118
NM_000527.4(LDLR):c.2041T>G (p.Cys681Gly) rs879255118
NM_000527.4(LDLR):c.2094C>G (p.Cys698Trp) rs879255137
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.2113G>C (p.Ala705Pro) rs193922570
NM_000527.4(LDLR):c.2119G>T (p.Asp707Tyr) rs879255142
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.4(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.4(LDLR):c.232C>T (p.Arg78Cys) rs370860696
NM_000527.4(LDLR):c.233G>A (p.Arg78His) rs146675823
NM_000527.4(LDLR):c.2375T>C (p.Ile792Thr) rs764493597
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.2395_2397del (p.Leu799del) rs879255195
NM_000527.4(LDLR):c.2397_2405delCGTCTTCCT (p.Val800_Leu802del) rs875989944
NM_000527.4(LDLR):c.240C>A (p.Asn80Lys) rs879254444
NM_000527.4(LDLR):c.2416dupG (p.Val806Glyfs) rs773618064
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.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.257_265delTCTGGAGGT (p.Phe86_Arg88del) rs879254451
NM_000527.4(LDLR):c.283T>G (p.Cys95Gly) rs879254456
NM_000527.4(LDLR):c.284G>A (p.Cys95Tyr) rs879254457
NM_000527.4(LDLR):c.292G>C (p.Gly98Arg) rs750474121
NM_000527.4(LDLR):c.299A>T (p.Asp100Val) rs879254460
NM_000527.4(LDLR):c.2T>C (p.Met1Thr) rs1555800701
NM_000527.4(LDLR):c.311G>T (p.Cys104Phe) rs875989895
NM_000527.4(LDLR):c.313+5G>A rs879254467
NM_000527.4(LDLR):c.313+6T>C rs879254468
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.370C>T (p.Arg124Trp) rs879254498
NM_000527.4(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.4(LDLR):c.479G>A (p.Cys160Tyr) rs879254541
NM_000527.4(LDLR):c.47T>C (p.Leu16Pro) rs879254391
NM_000527.4(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.4(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000527.4(LDLR):c.632A>T (p.His211Leu) rs879254603
NM_000527.4(LDLR):c.664T>C (p.Cys222Arg) rs577934998
NM_000527.4(LDLR):c.709C>T (p.Arg237Cys) rs879254657
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.4(LDLR):c.737G>A (p.Gly246Glu) rs879254661
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
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.800A>C (p.Glu267Ala) rs879254680
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000527.4(LDLR):c.846C>A (p.Phe282Leu) rs730882090
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.865T>C (p.Cys289Arg) rs879254697
NM_000527.4(LDLR):c.898A>G (p.Arg300Gly) rs767618089
NM_000527.4(LDLR):c.905G>A (p.Cys302Tyr) rs879254715
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.919G>A (p.Asp307Asn) rs879254719
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.941-12G>A rs879254734
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.967G>A (p.Gly323Ser) rs373869746
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000528.3(MAN2B1):c.159+2T>C rs1057516501
NM_000528.3(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000528.3(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.3(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568
NM_000530.6(MPZ):c.706_708delAAG (p.Lys236del) rs755446743
NM_000530.7(MPZ):c.385G>A (p.Val129Ile) rs201156403
NM_000531.6(OTC):c.-106C>A rs749748052
NM_000535.5(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.5(PMS2):c.2186_2187delTC (p.Leu729Glnfs) rs587779335
NM_000535.5(PMS2):c.2249G>A (p.Gly750Asp) rs587779337
NM_000535.5(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.5(PMS2):c.2521delT (p.Trp841Glyfs) rs886039646
NM_000535.5(PMS2):c.804-1G>A
NM_000535.6(PMS2):c.123_131delGTTAGTAGA (p.Leu42_Glu44del) rs863224676
NM_000535.6(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.6(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.6(PMS2):c.220G>C (p.Gly74Arg) rs1554304979
NM_000535.6(PMS2):c.2534A>T (p.His845Leu) rs1554292741
NM_000535.6(PMS2):c.319C>T (p.Arg107Trp) rs188006077
NM_000535.6(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000536.3(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.3(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000536.3(RAG2):c.1309G>A (p.Glu437Lys) rs193922573
NM_000536.3(RAG2):c.218G>A (p.Arg73His) rs762407838
NM_000536.3(RAG2):c.328A>C (p.Met110Leu) rs193922575
NM_000536.3(RAG2):c.479C>T (p.Ser160Leu) rs756694972
NM_000540.2(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839
NM_000540.2(RYR1):c.122T>C (p.Phe41Ser) rs766407858
NM_000540.2(RYR1):c.1250T>C (p.Leu417Pro) rs764262446
NM_000540.2(RYR1):c.12727G>A (p.Glu4243Lys) rs1555799628
NM_000540.2(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.1438G>A (p.Glu480Lys) rs878854375
NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.2(RYR1):c.14524G>A rs193922879
NM_000540.2(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373
NM_000540.2(RYR1):c.14642T>C (p.Met4881Thr)
NM_000540.2(RYR1):c.14672G>A (p.Gly4891Asp) rs398123470
NM_000540.2(RYR1):c.14801A>G (p.Gln4934Arg)
NM_000540.2(RYR1):c.14928C>G (p.Phe4976Leu) rs368874586
NM_000540.2(RYR1):c.14929G>C (p.Glu4977Gln) rs200777598
NM_000540.2(RYR1):c.15016G>A (p.Gly5006Ser)
NM_000540.2(RYR1):c.1589G>A (p.Arg530His) rs111888148
NM_000540.2(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) rs200069592
NM_000540.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_000540.2(RYR1):c.2682G>A (p.Pro894=) rs919322708
NM_000540.2(RYR1):c.328C>T (p.His110Tyr) rs767777113
NM_000540.2(RYR1):c.3301G>A (p.Val1101Met) rs145088074
NM_000540.2(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266
NM_000540.2(RYR1):c.5634_5636delGGA (p.Glu1878del) rs371047178
NM_000540.2(RYR1):c.6599C>T (p.Ala2200Val) rs193922791
NM_000540.2(RYR1):c.6838G>A (p.Val2280Ile) rs193922797
NM_000540.2(RYR1):c.7027G>A (p.Gly2343Ser) rs536596969
NM_000540.2(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934
NM_000540.2(RYR1):c.844C>T (p.Arg282Trp) rs1057518970
NM_000543.4(SMPD1):c.56delA (p.Gln19Argfs) rs1554933746
NM_000543.4(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000546.5(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.5(TP53):c.1101-1G>A rs876658982
NM_000546.5(TP53):c.313G>C (p.Gly105Arg) rs1060501195
NM_000546.5(TP53):c.314G>A (p.Gly105Asp) rs587781504
NM_000546.5(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.5(TP53):c.358A>G (p.Lys120Glu) rs121912658
NM_000546.5(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.5(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.375+5G>A rs1555526466
NM_000546.5(TP53):c.376T>G (p.Tyr126Asp) rs886039483
NM_000546.5(TP53):c.377A>G (p.Tyr126Cys) rs1555526335
NM_000546.5(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.5(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.5(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_000546.5(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.5(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.5(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.5(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.5(TP53):c.431A>C (p.Gln144Pro) rs786203071
NM_000546.5(TP53):c.434T>A (p.Leu145Gln) rs587782197
NM_000546.5(TP53):c.434T>C (p.Leu145Pro) rs587782197
NM_000546.5(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.5(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.5(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.5(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_000546.5(TP53):c.467G>A (p.Arg156His) rs371524413
NM_000546.5(TP53):c.472C>T (p.Arg158Cys) rs587780068
NM_000546.5(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_000546.5(TP53):c.475G>C (p.Ala159Pro) rs730882000
NM_000546.5(TP53):c.482C>A (p.Ala161Asp) rs1064795691
NM_000546.5(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.5(TP53):c.503A>G (p.His168Arg) rs867114783
NM_000546.5(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.5(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_000546.5(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.5(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.5(TP53):c.530C>G (p.Pro177Arg) rs751477326
NM_000546.5(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.5(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_000546.5(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.5(TP53):c.541C>T (p.Arg181Cys) rs587782596
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_000546.5(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_000546.5(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.5(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.5(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.5(TP53):c.587G>T (p.Arg196Leu) rs483352697
NM_000546.5(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.5(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.5(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.5(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.5(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.5(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.5(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.5(TP53):c.695T>C (p.Ile232Thr) rs587781589
NM_000546.5(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.5(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_000546.5(TP53):c.709A>G (p.Met237Val) rs730882004
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_000546.5(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.5(TP53):c.716A>C (p.Asn239Thr) rs1057519999
NM_000546.5(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.5(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.5(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_000546.5(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_000546.5(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_000546.5(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_000546.5(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.5(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_000546.5(TP53):c.738G>A (p.Met246Ile) rs1019340046
NM_000546.5(TP53):c.740A>T (p.Asn247Ile) rs786201762
NM_000546.5(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.5(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.5(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_000546.5(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.5(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.5(TP53):c.749C>T (p.Pro250Leu) rs1064794311
NM_000546.5(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.5(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_000546.5(TP53):c.766A>G (p.Thr256Ala) rs587781433
NM_000546.5(TP53):c.770T>A (p.Leu257Gln) rs28934577
NM_000546.5(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.5(TP53):c.796G>A (p.Gly266Arg) rs1057519990
NM_000546.5(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_000546.5(TP53):c.800G>C (p.Arg267Pro) rs587780075
NM_000546.5(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.5(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.5(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.5(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_000546.5(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.5(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.5(TP53):c.826G>C (p.Ala276Pro) rs1131691029
NM_000546.5(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.5(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.5(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.5(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.5(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.5(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.5(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.5(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.5(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.5(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_000546.5(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000546.5(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000548.3(TSC2):c.3599G>A (p.Arg1200Gln) rs397515225
NM_000548.3(TSC2):c.5260-1G>C rs1057518103
NM_000548.4(TSC2):c.4747G>A (p.Glu1583Lys) rs886039446
NM_000548.4(TSC2):c.886G>A (p.Val296Met) rs747237113
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.3(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.3(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.3(VHL):c.341-25_370dup rs1553619923
NM_000551.3(VHL):c.341-3T>G rs1131690965
NM_000551.3(VHL):c.393C>A (p.Asn131Lys) rs1064794272
NM_000551.3(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.3(VHL):c.483_500dup (p.Arg167_Ser168insCysLeuGlnValValArg) rs1553620312
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.3(VHL):c.581T>G (p.Val194Gly) rs1131690963
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.5191T>A (p.Ser1731Thr) rs61750603
NM_000642.2(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.2(AGL):c.1078C>T (p.His360Tyr) rs763554006
NM_000642.2(AGL):c.3816_3817delAG (p.Gly1273Asnfs) rs867341758
NM_000642.2(AGL):c.4459C>T (p.Arg1487Ter) rs12118058
NM_000642.2(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_000687.3(AHCY):c.266C>T (p.Ala89Val) rs755222515
NM_000702.3(ATP1A2):c.2438T>A (p.Met813Lys) rs796052277
NM_000709.3(BCKDHA):c.1037G>A (p.Arg346His) rs398123486
NM_000719.6(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711
NM_000719.6(CACNA1C):c.6031G>A (p.Val2011Ile) rs193922615
NM_000721.3(CACNA1E):c.4777A>G (p.Ile1593Val) rs1159957403
NM_000747.2(CHRNB1):c.1218-9_1218-7delCTC rs781689096
NM_000748.2(CHRNB2):c.1291G>C (p.Val431Leu) rs1064796396
NM_000784.3(CYP27A1):c.1184G>A (p.Arg395His) rs587778778
NM_000784.3(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.3(CYP27A1):c.435G>T (p.Gly145=) rs587778796
NM_000806.5(GABRA1):c.851T>C (p.Val284Ala) rs794727962
NM_000806.5(GABRA1):c.94C>T (p.Gln32Ter) rs769743354
NM_000816.3(GABRG2):c.1000G>A (p.Ala334Thr) rs398123523
NM_000816.3(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_000828.4(GRIA3):c.1957G>A (p.Ala653Thr) rs1057521721
NM_000833.4(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_000833.4(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_000833.4(GRIN2A):c.2452G>A (p.Ala818Thr) rs1555483699
NM_000834.4(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.4(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_000834.4(GRIN2B):c.2450A>G (p.Asn817Ser) rs1555103159
NM_000891.2(KCNJ2):c.226T>G (p.Cys76Gly) rs786205812
NM_000891.2(KCNJ2):c.277G>A (p.Val93Ile) rs147750704
NM_000891.2(KCNJ2):c.919A>G (p.Met307Val) rs1555603994
NM_000920.3(PC):c.1181T>C (p.Ile394Thr) rs1057520687
NM_000920.3(PC):c.1185+5_1185+8delGCGG rs748620956
NM_000920.3(PC):c.2723C>T (p.Thr908Met) rs796052032
NM_000920.3(PC):c.786G>T (p.Glu262Asp) rs200030109
NM_000920.3(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_000920.3(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001001430.2(TNNT2):c.247G>A (p.Glu83Lys) rs727504244
NM_001001430.2(TNNT2):c.251G>C (p.Arg84Thr) rs397516452
NM_001001430.2(TNNT2):c.257A>C (p.Asp86Ala) rs397516455
NM_001001430.2(TNNT2):c.281G>T (p.Arg94Leu) rs397516457
NM_001001430.2(TNNT2):c.291G>T (p.Lys97Asn) rs397516459
NM_001001430.2(TNNT2):c.311C>T (p.Ala104Val) rs727504245
NM_001001430.2(TNNT2):c.392G>C (p.Arg131Pro) rs397516464
NM_001001430.2(TNNT2):c.415C>T (p.Arg139Cys) rs397516465
NM_001001430.2(TNNT2):c.422G>A (p.Arg141Gln) rs730881101
NM_001001430.2(TNNT2):c.430C>T (p.Arg144Trp) rs483352832
NM_001001430.2(TNNT2):c.476G>A (p.Arg159Gln) rs45501500
NM_001001430.2(TNNT2):c.514G>T (p.Ala172Ser) rs730881097
NM_001001430.2(TNNT2):c.571-1G>A rs483352835
NM_001001430.2(TNNT2):c.613C>T (p.Arg205Trp) rs45586240
NM_001001430.2(TNNT2):c.614G>A (p.Arg205Gln) rs121964860
NM_001001430.2(TNNT2):c.745G>A (p.Asp249Asn) rs141805127
NM_001001430.2(TNNT2):c.754G>A (p.Glu252Lys) rs727504488
NM_001001430.2(TNNT2):c.773A>T (p.Lys258Ile) rs397516482
NM_001001430.2(TNNT2):c.780+5G>A rs730881113
NM_001001430.2(TNNT2):c.833G>C (p.Arg278Pro) rs397516484
NM_001001430.2(TNNT2):c.836G>A (p.Gly279Glu) rs727505233
NM_001001430.2(TNNT2):c.857G>A (p.Arg286His) rs141121678
NM_001001432.2(TNNT2):c.803+5G>A rs193922620
NM_001001547.2(CD36):c.1254+1G>A rs148051111
NM_001005242.2(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001005271.2(CHD3):c.3130C>T (p.Arg1044Trp) rs1555611722
NM_001005741.2(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_001005741.2(GBA):c.1227C>A (p.Asn409Lys)
NM_001005741.2(GBA):c.535G>C (p.Asp179His) rs147138516
NM_001005862.2(ERBB2):c.2239G>T (p.Val747Leu) rs121913471
NM_001006657.1(WDR35):c.3203A>G (p.Tyr1068Cys) rs541910371
NM_001006658.2(CR2):c.2298G>A (p.Trp766Ter) rs151093663
NM_001007026.1(ATN1):c.3178C>T (p.His1060Tyr) rs797044566
NM_001007228.1(SPOP):c.305T>G (p.Phe102Cys) rs193920894
NM_001007228.1(SPOP):c.399C>G (p.Phe133Leu) rs193921065
NM_001009994.2(RIPPLY2):c.299delT (p.Leu100Argfs) rs864309489
NM_001018005.1(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.1(TPM1):c.457C>G (p.His153Asp) rs397516372
NM_001018005.1(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001018005.1(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.1(TPM1):c.62G>T (p.Arg21Leu) rs730881151
NM_001018005.1(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.1(TPM1):c.64G>A (p.Ala22Thr) rs397516382
NM_001018005.1(TPM1):c.712C>T (p.Arg238Trp) rs397516386
NM_001018005.1(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001018005.1(TPM1):c.98A>C (p.Glu33Ala) rs886039444
NM_001024943.1(ASL):c.918+5G>A rs781331391
NM_001030311.2(CERKL):c.1381C>T (p.Arg461Ter) rs1187839124
NM_001030311.2(CERKL):c.613+4_613+5delAG rs766131721
NM_001032221.3(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_001033855.2(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102
NM_001035.2(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.2(RYR2):c.11570A>G (p.Tyr3857Cys) rs587782975
NM_001035.2(RYR2):c.12326T>C (p.Met4109Thr) rs1373714510
NM_001035.2(RYR2):c.12545A>C (p.Glu4182Ala) rs794728788
NM_001035.2(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.2(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.2(RYR2):c.14173T>A (p.Tyr4725Asn) rs876661387
NM_001035.2(RYR2):c.14635C>A (p.Gln4879Lys) rs730880200
NM_001035.2(RYR2):c.14845T>C (p.Trp4949Arg) rs794728810
NM_001035.2(RYR2):c.1847C>T (p.Ser616Leu) rs730880187
NM_001035.2(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.2(RYR2):c.365G>A (p.Arg122His) rs727503396
NM_001035.2(RYR2):c.4040T>G (p.Met1347Arg) rs193922625
NM_001035.2(RYR2):c.4069G>C (p.Asp1357His) rs193922626
NM_001035.2(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001035.2(RYR2):c.6829T>C (p.Cys2277Arg) rs794727676
NM_001035.2(RYR2):c.818C>T (p.Ser273Phe) rs794728715
NM_001037.4(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001040113.1(MYH11):c.5294G>A (p.Arg1765Gln) rs142546324
NM_001040114.1(MYH11):c.3254T>C (p.Ile1085Thr) rs193922629
NM_001040114.1(MYH11):c.3787_3789delAAG (p.Lys1263del) rs730880147
NM_001041.3(SI):c.3186_3187delTT (p.Tyr1063Terfs) rs776569472
NM_001042432.1(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_001042432.1(CLN3):c.47-1G>A rs1555469477
NM_001042432.1(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_001042432.1(CLN3):c.790+3A>C rs386833738
NM_001042432.1(CLN3):c.837+5G>A rs756848924
NM_001042492.2(NF1):c.1063-13G>A rs1131691066
NM_001042492.2(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_001042492.2(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_001042492.2(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_001042492.2(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_001042492.2(NF1):c.4330A>C (p.Lys1444Gln) rs137854550
NM_001042492.2(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.2(NF1):c.7700C>T (p.Pro2567Leu) rs754511534
NM_001065.3(TNFRSF1A):c.265T>C (p.Phe89Leu) rs104895245
NM_001065.3(TNFRSF1A):c.282C>G (p.Asn94Lys) rs876661014
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001076683.1(UBTF):c.2053G>T (p.Asp685Tyr) rs483352703
NM_001079802.1(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_001080116.1(LDB3):c.321+1523C>T rs45487699
NM_001080463.1(DYNC2H1):c.12431C>G (p.Pro4144Arg) rs761765709
NM_001080463.1(DYNC2H1):c.5114T>C (p.Leu1705Pro) rs878854166
NM_001080463.1(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001080463.1(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001080463.1(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001080522.2(CC2D2A):c.3594+5G>A rs863225181
NM_001081.3(CUBN):c.348+2T>C
NM_001081.3(CUBN):c.6125-2A>G rs75386064
NM_001083116.1(PRF1):c.1310C>T (p.Ala437Val) rs138126912
NM_001083614.1(EARS2):c.322C>T (p.Arg108Trp) rs376103091
NM_001083614.1(EARS2):c.667G>A (p.Asp223Asn) rs746087016
NM_001083961.1(WDR62):c.1576G>A (p.Glu526Lys) rs147875659
NM_001083962.1(TCF4):c.1741G>T (p.Val581Phe) rs587784460
NM_001098.2(ACO2):c.220C>G (p.Leu74Val) rs141772938
NM_001100.3(ACTA1):c.478G>A (p.Gly160Ser) rs1064794652
NM_001100.3(ACTA1):c.676G>C (p.Glu226Gln) rs1057521118
NM_001100112.1(MYH2):c.2414T>C (p.Val805Ala) rs200662973
NM_001101362.2(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093
NM_001101426.3(CRPPA):c.277_279delATT (p.Ile93del) rs397515398
NM_001103.3(ACTN2):c.427A>G (p.Ile143Val) rs786205453
NM_001105243.1(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001110556.1(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110792.1(MECP2):c.1200A>C (p.Pro400=) rs797044732
NM_001110792.1(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001126105.2(SLC7A7):c.1013G>A (p.Gly338Asp) rs386833795
NM_001126106.2(SLC7A7):c.475C>T (p.Arg159Cys) rs11568437
NM_001126115.1(TP53):c.401G>A (p.Gly134Glu) rs193920774
NM_001126115.1(TP53):c.443G>T (p.Arg148Ile) rs121912660
NM_001126115.1(TP53):c.85G>A (p.Ala29Thr) rs193920817
NM_001127180.1(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886
NM_001127221.1(CACNA1A):c.1060C>T (p.Leu354Phe) rs1555767914
NM_001127221.1(CACNA1A):c.1364G>A (p.Arg455Gln) rs561858384
NM_001127221.1(CACNA1A):c.3686C>T (p.Thr1229Met) rs1057518532
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.5263G>A (p.Gly1755Arg) rs1555737113
NM_001127464.2(ZNF469):c.2699C>T (p.Pro900Leu) rs273585618
NM_001127464.2(ZNF469):c.7747G>A (p.Glu2583Lys) rs281865151
NM_001127464.2(ZNF469):c.9835A>G (p.Thr3279Ala) rs273585627
NM_001127493.1(ANK2):c.4400-4039G>A rs193922637
NM_001127500.2(MET):c.3742T>C (p.Tyr1248His) rs121913247
NM_001127660.1(MFN2):c.404G>A (p.Arg135Gln) rs1443036026
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_001128227.2(GNE):c.1163+2dupT rs886043636
NM_001128227.2(GNE):c.1891G>A (p.Ala631Thr) rs387906347
NM_001128227.2(GNE):c.18T>A (p.Tyr6Ter)
NM_001128227.2(GNE):c.815T>G (p.Ile272Ser) rs759945787
NM_001128303.2(LACC1):c.850T>C (p.Cys284Arg) rs730880295
NM_001128425.1(MUTYH):c.1038G>A (p.Ser346=) rs372673338
NM_001128425.1(MUTYH):c.1163T>C (p.Leu388Pro) rs1060501335
NM_001128425.1(MUTYH):c.1342C>G (p.His448Asp) rs786202133
NM_001128425.1(MUTYH):c.254A>G (p.His85Arg) rs558707786
NM_001128425.1(MUTYH):c.309G>A (p.Trp103Ter) rs748170941
NM_001128425.1(MUTYH):c.37-2A>G
NM_001128425.1(MUTYH):c.391T>A (p.Trp131Arg) rs730881832
NM_001128425.1(MUTYH):c.401A>T (p.Glu134Val) rs864622450
NM_001128425.1(MUTYH):c.548G>A (p.Gly183Asp) rs587781864
NM_001128425.1(MUTYH):c.553C>T (p.Arg185Trp) rs750592289
NM_001128425.1(MUTYH):c.700G>A (p.Val234Met) rs200165598
NM_001128425.1(MUTYH):c.736G>T (p.Val246Phe) rs587780749
NM_001128425.1(MUTYH):c.820C>T (p.Arg274Trp) rs769237459
NM_001128425.1(MUTYH):c.934-2A>G rs77542170
NM_001128849.1(SMARCA4):c.2936G>A (p.Arg979Gln) rs797045981
NM_001128849.1(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_001128849.1(SMARCA4):c.4309C>T (p.Arg1437Trp) rs1057518049
NM_001129838.1(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_001130144.2(LTBP3):c.1550C>T (p.Pro517Leu) rs145001056
NM_001134363.2(RBM20):c.1898C>T (p.Pro633Leu)
NM_001134363.2(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.2(RBM20):c.3261_3262delCCinsG (p.Ser1087Argfs) rs727504763
NM_001134363.2(RBM20):c.3545G>A (p.Arg1182His) rs563762318
NM_001135659.2(NRXN1):c.3619C>T (p.Arg1207Ter) rs199546979
NM_001141945.1(ACTA2):c.419C>T (p.Ala140Val) rs397516683
NM_001142763.1(PCDH15):c.5385_5394delTCCTCTTCCT (p.Pro1796Leufs) rs753690225
NM_001142800.1(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.1(EYS):c.2137+1G>A rs199740930
NM_001142800.1(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.1(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001143779.1(IFT81):c.1303_1305delCTT rs1555266475
NM_001143996.1(OGDHL):c.2162C>T (p.Ser721Leu) rs773888308
NM_001148.4(ANK2):c.10708G>A (p.Glu3570Lys) rs180843436
NM_001148.4(ANK2):c.2474C>T (p.Thr825Ile) rs786205420
NM_001148.4(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001148.4(ANK2):c.7255G>A (p.Glu2419Lys) rs752704424
NM_001148.4(ANK2):c.8324A>G (p.His2775Arg) rs534934297
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met) rs142534126
NM_001151.3(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683
NM_001159508.2(IVD):c.367-2A>G rs771914739
NM_001160036.1(RHOBTB2):c.1528A>G (p.Asn510Asp) rs1554504678
NM_001160160.1(SCN5A):c.4900G>A (p.Val1634Ile) rs199473293
NM_001163213.1(FGFR3):c.1663G>A (p.Val555Met) rs199544087
NM_001163817.1(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976
NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) rs186476316
NM_001164277.1(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889
NM_001164675.1(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_001165963.1(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.1(SCN1A):c.2594G>A (p.Arg865Gln) rs1057517862
NM_001165963.1(SCN1A):c.2729A>G (p.Gln910Arg) rs1064795735
NM_001165963.1(SCN1A):c.2839G>A (p.Val947Met) rs796052986
NM_001165963.1(SCN1A):c.2941C>A (p.Leu981Ile) rs1057518112
NM_001165963.1(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591
NM_001165963.1(SCN1A):c.3879+5G>A rs796052999
NM_001165963.1(SCN1A):c.4321G>A (p.Ala1441Thr) rs121917974
NM_001165963.1(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715
NM_001165963.1(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.1(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001165963.1(SCN1A):c.4793A>T (p.Tyr1598Phe) rs377325221
NM_001165963.1(SCN1A):c.5306A>G (p.Tyr1769Cys) rs886039460
NM_001165963.1(SCN1A):c.5563C>T (p.Pro1855Ser) rs794727415
NM_001165963.1(SCN1A):c.791T>C (p.Ile264Thr) rs745664511
NM_001165963.2(SCN1A):c.2665G>A (p.Ala889Thr) rs1266877537
NM_001165963.2(SCN1A):c.3698G>A (p.Gly1233Asp) rs1553532470
NM_001165963.2(SCN1A):c.4171A>C (p.Asn1391His) rs1295072436
NM_001165963.2(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001166111.1(PNPLA6):c.4075C>T (p.Arg1359Trp) rs374434303
NM_001167819.1(FHL1):c.764G>C (p.Cys255Ser) rs869025431
NM_001170535.2(ATAD3A):c.158C>T (p.Thr53Ile) rs1057517687
NM_001171.5(ABCC6):c.496C>T (p.Arg166Cys) rs201766106
NM_001182.4(ALDH7A1):c.1232C>T (p.Pro411Leu) rs780233639
NM_001182.4(ALDH7A1):c.1301A>G (p.Tyr434Cys) rs747597620
NM_001182.4(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645
NM_001182.4(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351
NM_001184880.1(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.1(PCDH19):c.697G>T (p.Asp233Tyr) rs1555985482
NM_001184880.1(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001193416.2(DDX3X):c.1226G>A (p.Gly409Asp) rs1057523822
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_001198896.1(ACY1):c.841C>T (p.Arg281Cys) rs121912698
NM_001199107.1(TBC1D24):c.241_252delATCGTGGGCAAG (p.Ile81_Lys84del) rs761918906
NM_001199107.1(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.1(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001199107.1(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886
NM_001199107.1(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906
NM_001199917.1(PGM3):c.1049T>C (p.Ile350Thr) rs745508510
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) rs1057523275
NM_001201401.1(GALC):c.1918T>G (p.Trp640Gly) rs1060499761
NM_001242785.2(HLCS):c.1711G>A (p.Asp571Asn) rs119103228
NM_001242875.2(ELP2):c.1579C>T (p.Arg527Trp) rs767713084
NM_001243133.1(NLRP3):c.1306A>G (p.Thr436Ala) rs180177465
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_001244008.1(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter) rs200468440
NM_001256850.1(TTN):c.100562G>A (p.Trp33521Ter) rs886042795
NM_001256850.1(TTN):c.102712C>T (p.Gln34238Ter) rs757082154
NM_001256850.1(TTN):c.102917T>G (p.Ile34306Ser) rs281864928
NM_001256850.1(TTN):c.11454delT (p.Asn3818Lysfs) rs727503658
NM_001256850.1(TTN):c.1800+1G>A rs397517497
NM_001256850.1(TTN):c.21794_21795delCT (p.Ser7265Trpfs) rs779549899
NM_001256850.1(TTN):c.28091-2A>C rs6716782
NM_001256850.1(TTN):c.30812-1G>A rs202234172
NM_001256850.1(TTN):c.3295G>A (p.Val1099Met) rs368282893
NM_001256850.1(TTN):c.36687delA (p.Val12230Serfs) rs397517565
NM_001256850.1(TTN):c.37675_37676insG (p.Met12559Serfs) rs1553742630
NM_001256850.1(TTN):c.38621dupT (p.Phe12875Ilefs) rs752856716
NM_001256850.1(TTN):c.38677C>T (p.Gln12893Ter) rs727504499
NM_001256850.1(TTN):c.39349C>T (p.Arg13117Ter) rs140743001
NM_001256850.1(TTN):c.39361C>T (p.Arg13121Ter) rs770767998
NM_001256850.1(TTN):c.39976C>T (p.Arg13326Ter) rs727505350
NM_001256850.1(TTN):c.43715+5G>T rs397517594
NM_001256850.1(TTN):c.4724_4728delTGAAA (p.Met1575Serfs) rs756433029
NM_001256850.1(TTN):c.49243C>T (p.Arg16415Ter) rs768431507
NM_001256850.1(TTN):c.53272C>T (p.Arg17758Ter) rs768073446
NM_001256850.1(TTN):c.78358G>A (p.Val26120Ile) rs371788070
NM_001256850.1(TTN):c.83086+5G>A rs148231754
NM_001256850.1(TTN):c.8687C>T (p.Thr2896Ile) rs72647884
NM_001256850.1(TTN):c.93098G>A (p.Arg31033His) rs750969198
NM_001258332.1(GALT):c.485A>G (p.Glu162Gly) rs111033765
NM_001267550.1(TTN):c.32471-1G>A rs371725574
NM_001267550.2(TTN):c.10303+2T>C rs371596417
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184
NM_001267550.2(TTN):c.107223+1G>A rs876658102
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623
NM_001267550.2(TTN):c.107460_107463dupAGTC (p.Gln35822Serfs) rs886042246
NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter) rs869312102
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401
NM_001267550.2(TTN):c.12870dupA (p.Val4291Serfs) rs869025556
NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter) rs869312103
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107
NM_001267550.2(TTN):c.31846+1G>A rs794727043
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.41609-2A>C rs730880244
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580
NM_001267550.2(TTN):c.50858-3C>T rs587782987
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.59531_59570dup (p.Leu19857Phefs) rs1064792914
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr) rs786205539
NM_001267550.2(TTN):c.76115dupA (p.Asn25372Lysfs) rs774604740
NM_001267550.2(TTN):c.87716delG (p.Gly29239Aspfs) rs869312028
NM_001267609.1(GPR161):c.56T>A (p.Leu19Gln) rs200635937
NM_001270448.1(ACADVL):c.1147C>T (p.Arg383Trp) rs766742117
NM_001270448.1(ACADVL):c.725C>T (p.Pro242Leu) rs201676770
NM_001270448.1(ACADVL):c.875A>C (p.Gln292Pro) rs776063244
NM_001270448.1(ACADVL):c.955-15A>G rs765390290
NM_001271.3(CHD2):c.2095C>T (p.Arg699Trp) rs1131691515
NM_001271208.1(NEB):c.11341C>T (p.Arg3781Trp) rs533027587
NM_001271208.1(NEB):c.11581G>T (p.Ala3861Ser) rs750748717
NM_001271208.1(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.1(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.5031+1G>A rs1553495140
NM_001281723.2(BTD):c.1399G>T (p.Gly467Cys) rs746099217
NM_001281723.2(BTD):c.1618C>A (p.Arg540Ser) rs80338686
NM_001281723.2(BTD):c.589A>G (p.Asn197Asp) rs397514370
NM_001281723.2(BTD):c.740G>A (p.Cys247Tyr) rs397507175
NM_001281724.2(BTD):c.1336G>C (p.Asp446His) rs13078881
NM_001281724.2(BTD):c.670G>A (p.Asp224Asn) rs200337373
NM_001281724.2(BTD):c.749T>C (p.Ile250Thr) rs397514382
NM_001281725.2(BTD):c.1301A>G (p.Tyr434Cys) rs397514345
NM_001281725.2(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001281725.2(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001281726.1(BTD):c.442C>T (p.Arg148Cys) rs137877018
NM_001282534.1(KCNK9):c.392G>A (p.Arg131His) rs867543866
NM_001282625.1(LMNA):c.448A>G (p.Thr150Ala) rs58917027
NM_001293212.1(TUBB):c.920C>T (p.Pro307Leu) rs1554202416
NM_001297.4(CNGB1):c.2893-7G>A rs749199721
NM_001297.4(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001298.2(CNGA3):c.101+1G>A rs147118493
NM_001298.2(CNGA3):c.967G>C (p.Ala323Pro) rs146195955
NM_001317040.1(GLB1):c.745C>T (p.Arg249Cys) rs72555360
NM_001323374.1(CAMK4):c.981+1G>A
NM_001323582.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715
NM_001360.2(DHCR7):c.1348delC (p.Arg450Alafs) rs886042362
NM_001360.2(DHCR7):c.1384T>C (p.Tyr462His) rs201270451
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001360.2(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782
NM_001360.2(DHCR7):c.841G>A (p.Val281Met) rs398123607
NM_001360.2(DHCR7):c.862G>A (p.Glu288Lys) rs565893436
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001360.2(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001369.2(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170
NM_001369.2(DNAH5):c.962C>T (p.Ser321Leu) rs201077964
NM_001376.4(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.4(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.4(DYNC1H1):c.7918G>A (p.Glu2640Lys) rs797045535
NM_001382.3(DPAGT1):c.1A>C (p.Met1Leu) rs1057521151
NM_001383.4(DPH1):c.374T>C (p.Leu125Pro) rs200530055
NM_001396.3(DYRK1A):c.734T>G (p.Leu245Arg) rs797044525
NM_001399.4(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001429.3(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe) rs121909338
NM_001456.3(FLNA):c.7755_7756insTTCGGGG (p.Val2586Phefs) rs1557175195
NM_001458.4(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001540.4(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001558.3(IL10RA):c.170A>G (p.Tyr57Cys) rs201643277
NM_001605.2(AARS):c.259G>A (p.Asp87Asn) rs763757370
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001613.2(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.2(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001698.2(AUH):c.824C>T (p.Ala275Val) rs748318386
NM_001701.3(BAAT):c.761C>T (p.Thr254Met) rs768526453
NM_001723.5(DST):c.22delT (p.Tyr8Thrfs) rs775912185
NM_001743.5(CALM2):c.328A>T (p.Met110Leu) rs1553431711
NM_001743.5(CALM2):c.400G>A (p.Asp134Asn) rs398124650
NM_001754.4(RUNX1):c.1412_1413dup (p.Leu472Alafs) rs1555884790
NM_001830.3(CLCN4):c.2183C>T (p.Thr728Met) rs483352716
NM_001830.3(CLCN4):c.43G>A (p.Asp15Asn) rs879255591
NM_001844.4(COL2A1):c.1266+5G>A rs1064794958
NM_001844.4(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898
NM_001844.4(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886
NM_001845.4(COL4A1):c.2096G>A (p.Gly699Asp) rs1064795935
NM_001848.2(COL6A1):c.1425delA (p.Gly476Alafs) rs878854398
NM_001848.2(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.2(COL6A1):c.1666G>A (p.Gly556Arg) rs886043521
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) rs137964147
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_001848.2(COL6A1):c.814G>A (p.Gly272Ser) rs398123640
NM_001848.2(COL6A1):c.846_854delAGCCGGAGA (p.Glu282_Gly284del) rs1556425474
NM_001849.3(COL6A2):c.1037_1038delGAinsTT (p.Gly346Val)
NM_001849.3(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501
NM_001849.3(COL6A2):c.1496G>A (p.Gly499Glu) rs886042332
NM_001849.3(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_001849.3(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443
NM_001849.3(COL6A2):c.2489G>A (p.Arg830Gln) rs139552940
NM_001849.3(COL6A2):c.2627G>A (p.Arg876His) rs1012567148
NM_001849.3(COL6A2):c.2633C>T (p.Ala878Val) rs774521989
NM_001849.3(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001851.4(COL9A1):c.876+1G>C rs202232444
NM_001875.4(CPS1):c.2809_2810delAT (p.Ile937Profs) rs1318756445
NM_001875.4(CPS1):c.4274+2T>C rs1374322297
NM_001885.2(CRYAB):c.325-2A>G rs202024436
NM_001885.2(CRYAB):c.3G>A (p.Met1Ile) rs397516686
NM_001904.3(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.3(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001909.4(CTSD):c.751G>A (p.Asp251Asn) rs763407972
NM_001918.3(DBT):c.827T>G (p.Phe276Cys) rs121964999
NM_001918.3(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001918.4(DBT):c.1400G>A (p.Trp467Ter) rs767760099
NM_001927.3(DES):c.1048C>T (p.Arg350Trp) rs62636492
NM_001927.3(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001927.3(DES):c.1371+1G>A rs748323823
NM_001927.3(DES):c.295C>G (p.Gln99Glu) rs794728992
NM_001927.3(DES):c.380G>C (p.Arg127Pro) rs397516694
NM_001927.3(DES):c.893C>T (p.Ser298Leu) rs62636491
NM_001943.3(DSG2):c.1072G>A (p.Ala358Thr) rs758537946
NM_001943.3(DSG2):c.2434G>A (p.Gly812Ser) rs121913010
NM_001943.3(DSG2):c.875G>T (p.Arg292Leu) rs185821167
NM_001943.4(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.4(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.4(DSG2):c.2305G>A (p.Glu769Lys) rs371146201
NM_001943.4(DSG2):c.3061_3062delAG (p.Ser1021Leufs) rs397516706
NM_001943.4(DSG2):c.391G>A (p.Ala131Thr) rs373542380
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357
NM_001953.4(TYMP):c.1159+5G>A rs748559929
NM_001953.4(TYMP):c.437G>A (p.Arg146His) rs188802138
NM_001958.3(EEF1A2):c.1267C>T (p.Arg423Cys) rs886039346
NM_001958.3(EEF1A2):c.1375_1383delCAGAAGGCG (p.Gln459_Ala461del) rs879255373
NM_001972.2(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_002016.1(FLG):c.12064A>T (p.Lys4022Ter) rs146466242
NM_002074.4(GNB1):c.346G>A (p.Gly116Ser) rs1231842600
NM_002109.5(HARS):c.1361A>C (p.Tyr454Ser) rs387906639
NM_002136.3(HNRNPA1):c.898C>T (p.Arg300Ter) rs483353037
NM_002140.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.2(IGHMBP2):c.1616C>T (p.Ser539Leu) rs879253887
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639
NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.2(IGHMBP2):c.2911_2912delAG (p.Arg971Glufs) rs724159994
NM_002185.2(IL7R):c.662G>T (p.Ser221Ile) rs587778405
NM_002185.4(IL7R):c.214G>C (p.Glu72Gln) rs148001159
NM_002206.2(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529
NM_002222.5(ITPR1):c.107G>A (p.Arg36His) rs1057518026
NM_002222.5(ITPR1):c.731A>G (p.His244Arg) rs1085308010
NM_002225.3(IVD):c.1241G>A (p.Arg414Gln) rs143348838
NM_002225.3(IVD):c.716C>T (p.Thr239Ile) rs146861563
NM_002225.4(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.4(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002225.4(IVD):c.1205T>C (p.Ile402Thr) rs763422682
NM_002230.2(JUP):c.902A>G (p.Glu301Gly) rs782058451
NM_002241.4(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074
NM_002241.4(KCNJ10):c.221C>T (p.Thr74Ile) rs796052604
NM_002241.4(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405
NM_002310.5(LIFR):c.1937C>A (p.Thr646Asn) rs79040751
NM_002310.5(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_002312.3(LIG4):c.563G>A (p.Arg188Gln) rs748385144
NM_002386.3(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.3(MC1R):c.67C>T (p.Gln23Ter) rs201533137
NM_002420.5(TRPM1):c.3004A>T (p.Ile1002Phe) rs369484186
NM_002430.2(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002437.4(MPV17):c.275A>C (p.Asp92Ala) rs1057524366
NM_002437.5(MPV17):c.376-9T>G
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) rs387907272
NM_002470.3(MYH3):c.875C>G (p.Ser292Cys) rs139480342
NM_002471.3(MYH6):c.1108C>T (p.Arg370Trp) rs753444140
NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002474.2(MYH11):c.1202T>C (p.Ile401Thr) rs773998062
NM_002474.2(MYH11):c.3125G>A (p.Arg1042Gln) rs771297865
NM_002474.2(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002485.4(NBN):c.2070+1G>A rs1554556454
NM_002485.4(NBN):c.2184+1G>T rs756363734
NM_002485.4(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002496.3(NDUFS8):c.299C>T (p.Ala100Val) rs748754134
NM_002499.3(NEO1):c.2935C>G (p.Pro979Ala) rs483352721
NM_002524.4(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002529.3(NTRK1):c.2281C>T (p.Arg761Trp) rs759637817
NM_002618.3(PEX13):c.880C>T (p.Arg294Trp) rs373118250
NM_002642.3(PIGC):c.61C>T (p.Arg21Ter) rs115209243
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.1763G>A (p.Gly588Asp) rs371334941
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.2264A>C (p.Lys755Thr) rs770438363
NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) rs769827124
NM_002693.2(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.2(POLG):c.2620T>A (p.Leu874Met) rs758402960
NM_002693.2(POLG):c.2642C>T (p.Pro881Leu) rs375935084
NM_002693.2(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3151G>A (p.Gly1051Arg)
NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002693.2(POLG):c.3383G>A (p.Arg1128His)
NM_002693.2(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.2(POLG):c.3527C>T (p.Ser1176Leu) rs776031396
NM_002693.2(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.2(POLG):c.488C>T (p.Pro163Leu) rs752892262
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.2(POLG):c.855G>C (p.Gln285His) rs141367015
NM_002734.4(PRKAR1A):c.545C>T (p.Thr182Met) rs199801675
NM_002755.3(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.3(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_002834.4(PTPN11):c.166A>G (p.Ile56Val) rs397507504
NM_002834.4(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.827A>G (p.Lys276Arg) rs777603059
NM_002838.4(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039
NM_002878.3(RAD51D):c.1A>T (p.Met1Leu) rs561425038
NM_002878.3(RAD51D):c.493C>T (p.Arg165Trp) rs544654228
NM_002878.3(RAD51D):c.620C>G (p.Ser207Trp) rs370228071
NM_002878.3(RAD51D):c.620C>T (p.Ser207Leu) rs370228071
NM_002878.3(RAD51D):c.901C>T (p.Gln301Ter) rs1060502959
NM_002878.3(RAD51D):c.904-2A>T rs1403784434
NM_002880.3(RAF1):c.1871C>G (p.Ser624Cys) rs1057524239
NM_002880.3(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002977.3(SCN9A):c.1314+1G>T
NM_002977.3(SCN9A):c.2686C>T (p.Arg896Trp) rs202152511
NM_002977.3(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_003000.2(SDHB):c.143A>T (p.Asp48Val) rs202101384
NM_003000.2(SDHB):c.203G>A (p.Cys68Tyr) rs587782904
NM_003000.2(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.2(SDHB):c.269G>A (p.Arg90Gln) rs570278423
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.415C>T (p.Leu139Phe) rs397516834
NM_003000.2(SDHB):c.634C>T (p.Leu212Phe) rs1228560456
NM_003000.2(SDHB):c.650G>A (p.Arg217His) rs747518441
NM_003001.3(SDHC):c.148C>T (p.Arg50Cys) rs587778661
NM_003001.3(SDHC):c.224G>A (p.Gly75Asp) rs786205147
NM_003001.3(SDHC):c.377A>G (p.Tyr126Cys) rs898854295
NM_003001.3(SDHC):c.380A>G (p.His127Arg) rs786203457
NM_003002.3(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.3(SDHD):c.205G>A (p.Glu69Lys) rs202198133
NM_003002.3(SDHD):c.275A>T (p.Asp92Val) rs786205436
NM_003002.3(SDHD):c.304C>A (p.His102Asn) rs786202403
NM_003002.3(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003035.2(STIL):c.1229C>G (p.Pro410Arg) rs202194355
NM_003035.2(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_003036.3(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003036.3(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003060.3(SLC22A5):c.1052+5G>A rs927950152
NM_003060.3(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734
NM_003060.3(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652
NM_003060.3(SLC22A5):c.455G>A (p.Gly152Asp) rs747821417
NM_003060.3(SLC22A5):c.529A>G (p.Met177Val) rs145068530
NM_003060.3(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003098.2(SNTA1):c.1498C>T (p.Arg500Cys) rs786205426
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.3(SPG7):c.1586C>T (p.Ala529Val) rs748600162
NM_003119.3(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.3(SPG7):c.2084T>C (p.Leu695Pro) rs864622094
NM_003126.3(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522
NM_003156.3(STIM1):c.1588C>T (p.Arg530Cys) rs142239530
NM_003165.3(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_003165.3(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_003238.4(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003239.4(TGFB3):c.442C>T (p.Arg148Ter) rs1057523647
NM_003239.4(TGFB3):c.886_893dup (p.Lys298Asnfs) rs1555360368
NM_003239.4(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003242.5(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_003242.5(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.5(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_003280.2(TNNC1):c.161C>A (p.Pro54His) rs876661393
NM_003280.2(TNNC1):c.23C>T (p.Ala8Val) rs267607125
NM_003280.2(TNNC1):c.262G>A (p.Asp88Asn) rs730881058
NM_003280.2(TNNC1):c.435C>A (p.Asp145Glu) rs267607124
NM_003319.4(TTN):c.19942_19943delAG (p.Ser6648Leufs) rs886039125
NM_003319.4(TTN):c.35311C>T (p.Arg11771Ter) rs757231565
NM_003361.3(UMOD):c.317G>T (p.Cys106Phe) rs398123697
NM_003384.2(VRK1):c.266G>A (p.Arg89Gln) rs773138218
NM_003384.2(VRK1):c.961C>T (p.Arg321Cys) rs772731615
NM_003467.2(CXCR4):c.1003G>A (p.Gly335Ser) rs147214773
NM_003476.4(CSRP3):c.131T>C (p.Leu44Pro) rs104894205
NM_003476.4(CSRP3):c.365G>A (p.Arg122Gln) rs193922667
NM_003476.4(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504
NM_003476.4(CSRP3):c.536C>T (p.Thr179Met) rs142019584
NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.3(KMT2D):c.16489_16491delATC (p.Ile5497del) rs587783704
NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.3(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003491.3(NAA10):c.440T>C (p.Met147Thr) rs1057518605
NM_003494.3(DYSF):c.1180+5G>A rs766433603
NM_003494.3(DYSF):c.1668_1669insGTT (p.Leu556_Leu557insVal) rs1446214240
NM_003494.3(DYSF):c.1852G>A (p.Gly618Arg) rs201049092
NM_003494.3(DYSF):c.1966A>G (p.Lys656Glu) rs139754493
NM_003494.3(DYSF):c.206T>G (p.Val69Gly) rs886042878
NM_003494.3(DYSF):c.401C>T (p.Pro134Leu) rs773837400
NM_003494.3(DYSF):c.4199C>G (p.Pro1400Arg) rs138268837
NM_003494.3(DYSF):c.5026G>T (p.Ala1676Ser) rs141137410
NM_003494.3(DYSF):c.5078G>A rs779987458
NM_003494.3(DYSF):c.5303G>A (p.Arg1768Gln) rs148860301
NM_003494.3(DYSF):c.5444G>T (p.Cys1815Phe) rs886042584
NM_003494.3(DYSF):c.5629T>C (p.Tyr1877His) rs762258343
NM_003494.3(DYSF):c.5999G>A (p.Arg2000Gln) rs115407852
NM_003560.3(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113
NM_003593.2(FOXN1):c.1201_1216del16 (p.Pro401Alafs) rs1064793129
NM_003630.2(PEX3):c.389G>A (p.Arg130Gln) rs758701470
NM_003632.2(CNTNAP1):c.1163G>C (p.Arg388Pro) rs779027563
NM_003640.4(ELP1):c.1461-2A>G rs866046915
NM_003673.3(TCAP):c.209G>A (p.Arg70Gln) rs552865793
NM_003673.3(TCAP):c.472C>A (p.Arg158Ser) rs397516863
NM_003682.3(MADD):c.979C>T (p.Arg327Ter) rs147179561
NM_003722.4(TP63):c.517G>C (p.Gly173Arg) rs1057521750
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058
NM_003748.3(ALDH4A1):c.866+1G>A rs78532707
NM_003896.3(ST3GAL5):c.82+1G>C rs878854615
NM_003900.4(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941
NM_003919.2(SGCE):c.551T>C (p.Leu184Pro) rs1064794321
NM_003977.2(AIP):c.174G>C (p.Lys58Asn) rs267606539
NM_003977.3(AIP):c.591G>A (p.Glu197=) rs202006716
NM_004004.5(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.5(GJB2):c.110T>C (p.Val37Ala) rs141774369
NM_004004.5(GJB2):c.2T>C (p.Met1Thr) rs371086981
NM_004004.5(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.5(GJB2):c.488T>C (p.Met163Thr) rs1273330603
NM_004004.5(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.5(GJB2):c.583A>G (p.Met195Val) rs532203068
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004006.2(DMD):c.2117C>A (p.Pro706Gln) rs781015830
NM_004006.2(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_004092.3(ECHS1):c.88+5G>A rs761464256
NM_004100.4(EYA4):c.1109G>A (p.Arg370His) rs143936434
NM_004168.3(SDHA):c.1340A>G (p.His447Arg) rs779151375
NM_004168.3(SDHA):c.150+1G>A rs1057523165
NM_004168.3(SDHA):c.1660C>T (p.Arg554Trp) rs9809219
NM_004168.3(SDHA):c.1751C>T (p.Ala584Val) rs201068049
NM_004168.3(SDHA):c.1753C>T (p.Arg585Trp) rs200397144
NM_004168.3(SDHA):c.1909-2A>G rs747939816
NM_004168.3(SDHA):c.818C>T (p.Thr273Ile) rs587781720
NM_004183.3(BEST1):c.584C>T (p.Ala195Val) rs200277476
NM_004183.3(BEST1):c.602T>C (p.Ile201Thr) rs199529046
NM_004183.3(BEST1):c.89A>G (p.Lys30Arg) rs281865218
NM_004208.3(AIFM1):c.452G>A (p.Arg151Gln) rs752742151
NM_004239.4(TRIP11):c.5719+2T>C rs199736345
NM_004260.3(RECQL4):c.2091T>G (p.Phe697Leu) rs386833850
NM_004278.3(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004281.3(BAG3):c.1630G>C (p.Asp544His) rs786205466
NM_004321.7(KIF1A):c.223C>T (p.Arg75Trp) rs778224699
NM_004321.7(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_004328.4(BCS1L):c.-50+155T>A rs386833855
NM_004328.4(BCS1L):c.205C>T (p.Arg69Cys) rs377025174
NM_004328.4(BCS1L):c.269G>A (p.Arg90His) rs747956412
NM_004328.4(BCS1L):c.320+1G>T rs386833856
NM_004328.4(BCS1L):c.547C>T (p.Arg183Cys) rs144885874
NM_004328.4(BCS1L):c.550C>T (p.Arg184Cys) rs121908578
NM_004328.4(BCS1L):c.703G>A (p.Gly235Arg) rs368486097
NM_004328.4(BCS1L):c.871C>T (p.Arg291Ter) rs201454788
NM_004329.2(BMPR1A):c.1217G>T (p.Arg406Leu) rs587780107
NM_004329.2(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.2(BMPR1A):c.170C>G (p.Pro57Arg) rs1057517610
NM_004329.2(BMPR1A):c.355C>T (p.Arg119Cys) rs587782494
NM_004333.4(BRAF):c.1411G>T (p.Val471Phe) rs121913376
NM_004333.4(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.4(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.5(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.5(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.5(BRAF):c.1756G>A (p.Glu586Lys) rs121913340
NM_004360.3(CDH1):c.1057G>A (p.Glu353Lys) rs876661091
NM_004360.4(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.5(CDH1):c.1296C>G (p.Asn432Lys) rs187862045
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg) rs746481984
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004366.5(CLCN2):c.597dupG (p.Met200Aspfs) rs515726131
NM_004369.3(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004369.3(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017
NM_004369.3(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.3(COL6A3):c.6799G>A (p.Gly2267Ser) rs749855513
NM_004369.3(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222
NM_004369.3(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335
NM_004370.5(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277
NM_004376.6(COX15):c.452C>G (p.Ser151Ter) rs149718203
NM_004380.2(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.2(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004387.3(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000
NM_004403.3(GSDME):c.1277_1279delATG (p.Asp426del) rs374353052
NM_004415.2(DSP):c.2684A>G (p.Tyr895Cys) rs367752002
NM_004415.2(DSP):c.2985G>A (p.Glu995=) rs768858918
NM_004415.2(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004415.3(DSP):c.8188delC (p.Gln2730Serfs) rs886038929
NM_004453.2(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015
NM_004463.2(FGD1):c.1564C>T (p.Arg522Cys) rs398124159
NM_004543.4(NEB):c.18024+2T>C rs112610938
NM_004543.4(NEB):c.2211+5G>T rs797045736
NM_004544.3(NDUFA10):c.1000-3C>G rs199648872
NM_004550.4(NDUFS2):c.875T>C (p.Met292Thr) rs150667550
NM_004560.3(ROR2):c.1970G>A (p.Arg657His) rs529829552
NM_004560.3(ROR2):c.2239C>T (p.Arg747Ter) rs374646337
NM_004562.2(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_004563.3(PCK2):c.68C>G (p.Ser23Ter) rs61752842
NM_004572.3(PKP2):c.1170+4_1170+7delAGTG rs397516988
NM_004572.3(PKP2):c.1547A>G (p.Lys516Arg) rs749926313
NM_004572.3(PKP2):c.2484C>T (p.Gly828=) rs727504509
NM_004572.3(PKP2):c.2489+5G>A rs1555141020
NM_004580.4(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_004612.2(TGFBR1):c.679G>A (p.Glu227Lys) rs1060502042
NM_004612.2(TGFBR1):c.707C>T (p.Ser236Phe) rs863223812
NM_004612.2(TGFBR1):c.733G>A (p.Glu245Lys) rs1057524497
NM_004612.3(TGFBR1):c.935G>A (p.Gly312Asp) rs869025535
NM_004628.4(XPC):c.2194dup (p.Leu732Profs) rs1309116467
NM_004646.3(NPHS1):c.319G>A (p.Ala107Thr) rs386833933
NM_004656.3(BAP1):c.256-3C>A rs752536342
NM_004656.3(BAP1):c.659+3A>C rs878854741
NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys) rs956666801
NM_004737.6(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461
NM_004820.3(CYP7B1):c.440G>A (p.Gly147Asp) rs754730601
NM_004820.4(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274
NM_004870.3(MPDU1):c.218G>A (p.Gly73Glu) rs104894586
NM_004937.2(CTNS):c.329+2T>C rs955833453
NM_004937.2(CTNS):c.944A>G (p.Gln315Arg) rs1064795587
NM_004949.4(DSC2):c.2125+1delG rs794728072
NM_004959.4(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004974.3(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004975.3(KCNB1):c.908G>A (p.Arg303Gln) rs1057518621
NM_004980.4(KCND3):c.1174G>A (p.Val392Ile) rs786205867
NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe) rs150401343
NM_004985.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_004985.4(KRAS):c.57G>C (p.Leu19Phe) rs121913538
NM_004990.3(MARS):c.1852C>T (p.Arg618Cys) rs587777718
NM_004992.3(MECP2):c.1006C>G (p.Leu336Val) rs587783104
NM_004992.3(MECP2):c.343C>T (p.Arg115Cys) rs267608388
NM_004992.3(MECP2):c.380C>T (p.Pro127Leu) rs267608387
NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) rs61748403
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) rs61748420
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_005002.4(NDUFA9):c.224G>T (p.Arg75Leu) rs35263902
NM_005120.2(MED12):c.1849A>G (p.Thr617Ala) rs765417606
NM_005120.2(MED12):c.3844G>A (p.Val1282Met) rs398124197
NM_005159.4(ACTC1):c.1112T>C (p.Ile371Thr) rs730880407
NM_005159.4(ACTC1):c.309C>A (p.His103Gln) rs769303249
NM_005159.4(ACTC1):c.310C>T (p.Pro104Ser) rs397517059
NM_005159.4(ACTC1):c.475G>A (p.Asp159Asn) rs397517063
NM_005159.4(ACTC1):c.500T>C (p.Ile167Thr) rs730880409
NM_005159.4(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005159.4(ACTC1):c.806T>C (p.Ile269Thr) rs397517071
NM_005159.4(ACTC1):c.812T>C (p.Met271Thr) rs730880401
NM_005188.3(CBL):c.1228-2A>G rs727504426
NM_005188.3(CBL):c.1754G>T (p.Arg585Leu) rs727504640
NM_005198.4(CHKB):c.940C>T (p.Arg314Cys) rs200919604
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005228.4(EGFR):c.2240T>C (p.Leu747Ser) rs397517097
NM_005228.4(EGFR):c.2248G>C (p.Ala750Pro) rs121913229
NM_005228.4(EGFR):c.2281G>T (p.Asp761Tyr) rs121913418
NM_005228.4(EGFR):c.2572C>A (p.Leu858Met) rs121913443
NM_005228.4(EGFR):c.2582T>G (p.Leu861Arg) rs121913444
NM_005249.4(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.4(FOXG1):c.685A>C (p.Ile229Leu) rs1064797186
NM_005343.3(HRAS):c.367C>T (p.Arg123Cys) rs369106578
NM_005359.5(SMAD4):c.1495T>C (p.Cys499Arg) rs1060500738
NM_005397.3(PODXL):c.89_90insGTCGCCCC (p.Gln32Profs) rs1554391082
NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) rs140236996
NM_005431.1(XRCC2):c.378_381delACTT (p.Leu126Phefs) rs763401560
NM_005431.1(XRCC2):c.96delT (p.Phe32Leufs) rs730882048
NM_005472.4(KCNE3):c.10A>G (p.Thr4Ala) rs200856070
NM_005476.5(GNE):c.612G>A (p.Trp204Ter) rs786204476
NM_005518.3(HMGCS2):c.1499G>A (p.Arg500His) rs137852639
NM_005518.3(HMGCS2):c.346C>T (p.Arg116Cys) rs200607527
NM_005529.6(HSPG2):c.4233C>T (p.Tyr1411=) rs745452577
NM_005562.2(LAMC2):c.1A>G (p.Met1Val) rs886045625
NM_005572.3(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_005585.4(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005591.3(MRE11):c.1516G>T (p.Glu506Ter) rs587781384
NM_005591.3(MRE11):c.2070+2T>A rs786202801
NM_005591.3(MRE11):c.21-6_26delATATAGTGATGA rs587780138
NM_005591.3(MRE11):c.350A>G (p.Asn117Ser) rs137852760
NM_005591.3(MRE11):c.77T>C (p.Met26Thr) rs372068015
NM_005591.3(MRE11):c.913C>T (p.Arg305Trp) rs372000848
NM_005592.3(MUSK):c.2291T>C (p.Ile764Thr) rs1554757211
NM_005592.3(MUSK):c.374G>T (p.Arg125Leu) rs375737188
NM_005609.2(PYGM):c.425_528del rs764313717
NM_005609.3(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.3(PYGM):c.1465C>T (p.Pro489Ser) rs752622662
NM_005609.3(PYGM):c.2312G>A (p.Arg771Gln) rs150911354
NM_005633.3(SOS1):c.1269C>G (p.Asn423Lys) rs138459502
NM_005633.3(SOS1):c.1646C>A (p.Thr549Lys) rs730881046
NM_005633.3(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.3(SOS1):c.2105A>G (p.Tyr702Cys) rs757094189
NM_005633.3(SOS1):c.512T>G (p.Val171Gly) rs397517174
NM_005687.4(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_005732.3(RAD50):c.1245+2C>G rs776276760
NM_005732.3(RAD50):c.3G>A (p.Met1Ile) rs377260382
NM_005862.2(STAG1):c.659A>G (p.His220Arg) rs1057519153
NM_005902.3(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.3(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005902.3(SMAD3):c.772G>C (p.Asp258His) rs863223738
NM_005902.3(SMAD3):c.859C>T (p.Arg287Trp) rs387906850
NM_005902.3(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) rs886039177
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_005910.5(MAPT):c.1087G>A (p.Val363Ile) rs63750869
NM_005912.2(MC4R):c.380C>T (p.Ser127Leu) rs13447331
NM_005912.2(MC4R):c.749T>A (p.Leu250Gln) rs772393451
NM_005989.3(AKR1D1):c.593C>T (p.Pro198Leu) rs121918342
NM_005989.4(AKR1D1):c.261+1G>T rs201988060
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) rs149013740
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026
NM_006005.3(WFS1):c.911_914dupTTGA (p.Met306Terfs) rs863224264
NM_006009.3(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.3(TUBA1A):c.53A>G (p.Asn18Ser) rs1064795213
NM_006009.3(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) rs1085308005
NM_006017.2(PROM1):c.604C>G (p.Arg202Gly) rs140872693
NM_006019.3(TCIRG1):c.117+1G>A rs377303800
NM_006019.3(TCIRG1):c.303_309delGGAGCGC (p.Glu102Trpfs) rs886048594
NM_006214.3(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis) rs566116760
NM_006214.3(PHYH):c.678+5G>T rs201499815
NM_006214.3(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006218.3(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
NM_006231.3(POLE):c.5912A>G (p.Asn1971Ser) rs772127913
NM_006231.3(POLE):c.6623delA (p.Gln2208Argfs) rs1555301070
NM_006231.3(POLE):c.857C>G (p.Pro286Arg) rs1057519943
NM_006245.3(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266
NM_006269.1(RP1):c.515T>G (p.Leu172Arg) rs180729424
NM_006269.1(RP1):c.616-6T>C rs186571865
NM_006306.3(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.3(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.3(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006343.2(MERTK):c.1450G>A (p.Gly484Ser) rs527236084
NM_006343.2(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_006359.2(SLC9A6):c.430-9_430-5delTTTTA rs796053290
NM_006371.4(CRTAP):c.634C>T (p.Arg212Ter) rs137853944
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967
NM_006493.2(CLN5):c.1121A>G (p.Tyr374Cys) rs148862100
NM_006493.2(CLN5):c.334C>T (p.Arg112Cys) rs786205211
NM_006516.3(SLC2A1):c.400G>A (p.Gly134Ser) rs1057518953
NM_006567.4(FARS2):c.1082C>T (p.Pro361Leu) rs751459058
NM_006567.4(FARS2):c.1220C>T (p.Thr407Met) rs372054960
NM_006567.4(FARS2):c.1268G>A (p.Arg423Gln) rs148921184
NM_006567.4(FARS2):c.476A>C (p.His159Pro)
NM_006567.4(FARS2):c.550G>A (p.Asp184Asn) rs554931092
NM_006567.4(FARS2):c.667C>T (p.Arg223Cys) rs202060864
NM_006567.4(FARS2):c.971A>G (p.Tyr324Cys) rs142073519
NM_006612.5(KIF1C):c.2099C>T (p.Pro700Leu) rs148934699
NM_006612.5(KIF1C):c.2734C>T (p.Arg912Trp) rs202232792
NM_006657.2(FTCD):c.1358C>T (p.Thr453Met) rs200283734
NM_006657.2(FTCD):c.990dupG (p.Pro331Alafs) rs398124234
NM_006702.4(PNPLA6):c.3404G>A (p.Arg1135Gln) rs1057517802
NM_006731.2(FKTN):c.748T>C (p.Cys250Arg) rs398123558
NM_006755.1(TALDO1):c.575G>A (p.Arg192His) rs151052416
NM_006767.3(LZTR1):c.848G>A (p.Arg283Gln)
NM_006783.4(GJB6):c.60_61delCGinsT (p.Lys22Argfs) rs397517206
NM_006783.4(GJB6):c.63delG (p.Lys22Argfs) rs770612890
NM_006859.3(LIAS):c.983T>A (p.Phe328Tyr) rs1064793165
NM_006892.3(DNMT3B):c.1957G>A (p.Asp653Asn) rs1438362757
NM_006912.5(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006920.5(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_007055.3(POLR3A):c.1771-7C>G rs201314157
NM_007075.3(WDR45):c.161_163delTGG (p.Val54del) rs864309661
NM_007077.4(AP4S1):c.289C>T (p.Arg97Ter) rs200440467
NM_007078.2(LDB3):c.1609delC (p.Gln537Argfs) rs727503129
NM_007098.3(CLTCL1):c.988G>A (p.Glu330Lys) rs199652160
NM_007118.3(TRIO):c.3232C>T (p.Arg1078Trp) rs1554065887
NM_007123.5(USH2A):c.3547_3548delAT (p.Ile1183Phefs) rs397518013
NM_007126.3(VCP):c.278G>A (p.Arg93His) rs779959657
NM_007171.3(POMT1):c.2163C>A (p.Tyr721Ter) rs138902646
NM_007194.3(CHEK2):c.1417_1428del12 (p.Ala473_Thr476del) rs876659422
NM_007194.3(CHEK2):c.1567delC (p.Arg523Valfs) rs587782684
NM_007194.3(CHEK2):c.483_485delAGA (p.Glu161del) rs587782008
NM_007194.3(CHEK2):c.846+4_846+7delAGTA rs764884641
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192
NM_007215.3(POLG2):c.1417G>A (p.Asp473Asn) rs563130304
NM_007254.3(PNKP):c.1029+2T>C rs199919568
NM_007254.3(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.3(PNKP):c.968C>T (p.Thr323Met) rs372148913
NM_007255.2(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833
NM_007272.2(CTRC):c.746C>T (p.Pro249Leu)
NM_007294.3(BRCA1):c.110C>G (p.Thr37Arg) rs80356880
NM_007294.3(BRCA1):c.115T>A (p.Cys39Ser) rs80357164
NM_007294.3(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.3(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498
NM_007294.3(BRCA1):c.116G>T (p.Cys39Phe) rs80357498
NM_007294.3(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.3(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.3(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.134+5G>A rs80358038
NM_007294.3(BRCA1):c.139T>G (p.Cys47Gly) rs80357370
NM_007294.3(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.3(BRCA1):c.181T>C (p.Cys61Arg) rs28897672
NM_007294.3(BRCA1):c.192T>G (p.Cys64Trp) rs587781632
NM_007294.3(BRCA1):c.212+3A>G rs80358083
NM_007294.3(BRCA1):c.212G>T (p.Arg71Met) rs80356913
NM_007294.3(BRCA1):c.213-15A>G rs886040903
NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.3(BRCA1):c.301+1G>A rs587782173
NM_007294.3(BRCA1):c.301+1G>C rs587782173
NM_007294.3(BRCA1):c.3179A>C (p.Glu1060Ala) rs80357184
NM_007294.3(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.441G>C (p.Leu147Phe) rs748876625
NM_007294.3(BRCA1):c.442-1G>T rs1351019392
NM_007294.3(BRCA1):c.442-22_442-13delTGTTCTTTAC rs879254224
NM_007294.3(BRCA1):c.442-?_547+?(2)
NM_007294.3(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.3(BRCA1):c.4485-2A>G rs80358054
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.3(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.3(BRCA1):c.4986+5G>A rs397509211
NM_007294.3(BRCA1):c.5017_5019delCAC (p.His1673del) rs80358343
NM_007294.3(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.3(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.3(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.3(BRCA1):c.5074+3A>G rs80358181
NM_007294.3(BRCA1):c.5078_5080delCTG (p.Ala1693del) rs80358345
NM_007294.3(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.3(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5116G>A (p.Gly1706Arg) rs886040864
NM_007294.3(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.3(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.3(BRCA1):c.5141T>G (p.Val1714Gly) rs80357243
NM_007294.3(BRCA1):c.5143A>T (p.Ser1715Cys) rs80357222
NM_007294.3(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.3(BRCA1):c.5152+5G>A rs80358165
NM_007294.3(BRCA1):c.5153G>C (p.Trp1718Ser) rs41293461
NM_007294.3(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.3(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.3(BRCA1):c.5194-12G>A rs80358079
NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.3(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.3(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.3(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.3(BRCA1):c.5216A>T (p.Asp1739Val) rs80357227
NM_007294.3(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.3(BRCA1):c.5252G>C (p.Arg1751Pro) rs80357442
NM_007294.3(BRCA1):c.5254G>C (p.Ala1752Pro) rs80357074
NM_007294.3(BRCA1):c.5258G>C (p.Arg1753Thr) rs397509246
NM_007294.3(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_007294.3(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.3(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.3(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.3(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474
NM_007294.3(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_007294.3(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.3(BRCA1):c.5406+5G>T rs80358073
NM_007294.3(BRCA1):c.5425G>T (p.Val1809Phe) rs28897698
NM_007294.3(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.3(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.3(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.3(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.3(BRCA1):c.5511G>T (p.Trp1837Cys) rs80356914
NM_007294.3(BRCA1):c.5513T>G (p.Val1838Gly) rs80357107
NM_007294.3(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.3(BRCA1):c.5527G>C (p.Ala1843Pro) rs80357019
NM_007294.3(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.3(BRCA1):c.5564delT (p.Ile1855Asnfs) rs1555574355
NM_007294.3(BRCA1):c.5578dupC (p.His1860Profs) rs397507254
NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.3(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.3(BRCA1):c.80+5G>A rs80358045
NM_007327.3(GRIN1):c.1974C>G (p.Asp658Glu) rs1064795712
NM_007375.3(TARDBP):c.859G>A (p.Gly287Ser) rs80356719
NM_012144.3(DNAI1):c.370C>T (p.Arg124Cys) rs116938457
NM_012144.3(DNAI1):c.389-1G>C rs200488444
NM_012144.3(DNAI1):c.862C>T (p.Arg288Trp) rs202213517
NM_012160.4(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_012160.4(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042
NM_012203.1(GRHPR):c.598+1G>T rs111256477
NM_012208.3(HARS2):c.448C>T (p.Arg150Cys) rs140540222
NM_012210.3(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835
NM_012224.2(NEK1):c.1705T>A (p.Phe569Ile) rs776098853
NM_012224.2(NEK1):c.695G>A (p.Arg232His) rs772747361
NM_012224.2(NEK1):c.782G>A (p.Arg261His) rs200161705
NM_012275.2(IL36RN):c.227C>T (p.Pro76Leu)
NM_012414.3(RAB3GAP2):c.713-2A>G rs797045103
NM_012434.4(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916
NM_012452.2(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883
NM_012470.3(TNPO3):c.2542delT (p.Tyr848Ilefs) rs773574448
NM_013254.3(TBK1):c.829C>G (p.Leu277Val) rs905184241
NM_013275.5(ANKRD11):c.2684G>A (p.Arg895Gln) rs199800166
NM_013334.3(GMPPB):c.1069G>A (p.Val357Ile) rs199922550
NM_013339.3(ALG6):c.908_910delGTT (p.Cys303del) rs1057517952
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716
NM_013382.5(POMT2):c.1006+5G>A rs587780422
NM_014000.2(VCL):c.1713delA (p.Ala573Hisfs) rs779488376
NM_014000.2(VCL):c.2828_2829delCT (p.Pro943Argfs) rs781036800
NM_014000.2(VCL):c.562C>T (p.Arg188Ter) rs397517244
NM_014014.4(SNRNP200):c.1871G>A (p.Arg624Lys) rs527236115
NM_014053.3(FLVCR1):c.1092+5G>A rs556788423
NM_014080.4(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510
NM_014080.4(DUOX2):c.4171C>G (p.Pro1391Ala) rs771198569
NM_014191.3(SCN8A):c.1250A>C (p.Gln417Pro) rs878854973
NM_014191.3(SCN8A):c.1445A>G (p.Lys482Arg) rs769520392
NM_014191.3(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_014191.3(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_014191.3(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_014191.3(SCN8A):c.4877G>A (p.Arg1626His) rs886044328
NM_014191.3(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_014191.3(SCN8A):c.632T>C (p.Val211Ala) rs1057518487
NM_014249.3(NR2E3):c.364C>T (p.Arg122Cys) rs527236086
NM_014251.2(SLC25A13):c.1505C>T (p.Pro502Leu) rs139149160
NM_014254.2(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997
NM_014363.4(SACS):c.1607C>T (p.Pro536Leu) rs1440541889
NM_014363.4(SACS):c.623G>T (p.Ser208Ile) rs911764681
NM_014363.5(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014363.5(SACS):c.5629C>T (p.Arg1877Ter) rs761089024
NM_014363.5(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014384.2(ACAD8):c.337G>A (p.Ala113Thr) rs751633406
NM_014384.2(ACAD8):c.400G>T (p.Asp134Tyr) rs367857040
NM_014384.2(ACAD8):c.958G>A (p.Ala320Thr) rs200620279
NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp) rs121908420
NM_014467.2(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_014625.3(NPHS2):c.790G>C (p.Glu264Gln) rs369697947
NM_014629.3(ARHGEF10):c.1013G>C (p.Arg338Thr) rs587777712
NM_014714.3(IFT140):c.3955_3960delGCCAAG (p.Ala1319_Lys1320del) rs746697405
NM_014780.4(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334
NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327
NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014874.3(MFN2):c.725A>G (p.His242Arg) rs863224065
NM_014874.3(MFN2):c.818T>G (p.Val273Gly) rs1458700065
NM_014874.3(MFN2):c.828_830dupGCA (p.Gln276_His277insGln) rs1553143791
NM_014941.3(MORC2):c.995A>G (p.Tyr332Cys) rs1555938796
NM_014946.3(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
NM_014946.3(SPAST):c.1477G>C (p.Asp493His) rs1060499939
NM_014946.3(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.3(SPAST):c.1625A>G (p.Asp542Gly) rs142053576
NM_014946.3(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.3(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014956.4(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904
NM_014985.3(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_015046.5(SETX):c.7121_7122delTG (p.Val2374Glyfs) rs765371601
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) rs373698346
NM_015102.4(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678
NM_015120.4(ALMS1):c.11086delA (p.Ser3696Alafs) rs1412574975
NM_015120.4(ALMS1):c.5179dup (p.Leu1727Profs) rs1553404020
NM_015120.4(ALMS1):c.8793dup (p.Glu2932Terfs) rs1553409778
NM_015141.3(GPD1L):c.839C>T (p.Ala280Val) rs72552291
NM_015166.3(MLC1):c.65G>A (p.Arg22Gln) rs184241759
NM_015272.2(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203
NM_015284.3(SZT2):c.6553C>T (p.Arg2185Trp) rs765848129
NM_015294.3(TRIM37):c.745C>T (p.Gln249Ter) rs386834005
NM_015338.5(ASXL1):c.1544_1545delTG (p.Val515Glyfs) rs777537805
NM_015340.3(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_015346.3(ZFYVE26):c.3139+2T>G rs767164213
NM_015450.2(POT1):c.1071dup (p.Gln358Serfs) rs750470470
NM_015450.2(POT1):c.147delT (p.Ile49Metfs) rs1064794328
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_015506.2(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982
NM_015506.2(MMACHC):c.616C>T (p.Arg206Trp) rs538023671
NM_015531.5(C2CD3):c.5227G>T (p.Gly1743Cys) rs1064793399
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015560.2(OPA1):c.1301T>C (p.Leu434Pro) rs1553877946
NM_015570.3(AUTS2):c.1295C>A (p.Pro432His) rs767529359
NM_015713.4(RRM2B):c.662A>G (p.Asn221Ser) rs863224193
NM_015869.4(PPARG):c.1484C>T (p.Pro495Leu) rs121909244
NM_015922.2(NSDHL):c.595C>T (p.Arg199Cys) rs587784223
NM_015922.2(NSDHL):c.727G>A (p.Val243Met) rs587784224
NM_016035.4(COQ4):c.202G>C (p.Asp68His) rs758522459
NM_016035.4(COQ4):c.356C>T (p.Pro119Leu) rs773943371
NM_016035.4(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016042.3(EXOSC3):c.572G>A (p.Gly191Asp) rs797045567
NM_016180.4(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593
NM_016203.3(PRKAG2):c.1030C>T (p.His344Tyr) rs727504392
NM_016239.3(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200
NM_016239.3(MYO15A):c.6764+2T>A rs763975867
NM_016239.3(MYO15A):c.6863C>T (p.Ser2288Leu) rs886052676
NM_016239.3(MYO15A):c.8050T>C (p.Tyr2684His) rs376351191
NM_016239.3(MYO15A):c.9620G>A (p.Arg3207His) rs199621031
NM_016335.4(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_016373.3(WWOX):c.410G>A (p.Gly137Glu) rs761879076
NM_016373.3(WWOX):c.605+5G>A rs1039151413
NM_016529.4(ATP8A2):c.145G>T (p.Asp49Tyr) rs864309608
NM_016579.3(CD320):c.262_264delGAG (p.Glu88del) rs150384171
NM_016952.4(CDON):c.3395C>T (p.Pro1132Leu) rs754025360
NM_017534.5(MYH2):c.1160C>T (p.Ala387Val) rs527337606
NM_017547.3(FOXRED1):c.612_615dupAGTG (p.Ala206Serfs) rs398124308
NM_017563.4(IL17RD):c.392A>C (p.Lys131Thr) rs184758350
NM_017613.3(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg) rs754529382
NM_017636.3(TRPM4):c.1150+1G>A rs200132598
NM_017646.5(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_017739.3(POMGNT1):c.1285-2A>G rs386834012
NM_017739.3(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
NM_017745.5(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_017777.3(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017777.3(MKS1):c.493C>T (p.Arg165Cys) rs779953982
NM_017777.3(MKS1):c.958G>A (p.Val320Ile) rs386834053
NM_017780.3(CHD7):c.6184C>T (p.Arg2062Trp) rs886063038
NM_017841.2(SDHAF2):c.165G>A (p.Trp55Ter) rs774508076
NM_017841.2(SDHAF2):c.347G>A (p.Trp116Ter) rs876658350
NM_017841.2(SDHAF2):c.371-2A>G rs375280597
NM_017849.3(TMEM127):c.158G>C (p.Trp53Ser) rs121908818
NM_017849.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_017849.3(TMEM127):c.280C>T (p.Arg94Trp) rs121908824
NM_017866.5(TMEM70):c.718_721delAAAG (p.Glu241Asnfs) rs746973761
NM_017882.2(CLN6):c.407G>A (p.Arg136His) rs769701646
NM_017882.2(CLN6):c.898T>C (p.Trp300Arg) rs750937323
NM_017890.4(VPS13B):c.11825_11827dupATG (p.Asp3942_Gly3943insAsp) rs386834068
NM_017890.4(VPS13B):c.3240delT (p.Pro1081Glnfs) rs764544747
NM_017890.4(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622
NM_017890.4(VPS13B):c.6370_6371delAT rs748404277
NM_017890.4(VPS13B):c.7126-1G>A rs930144563
NM_017946.3(FKBP14):c.467_468delCT (p.Ser156Terfs) rs753775062
NM_018006.4(TRMU):c.37_48dupGGCGGCGTGGAC (p.Asp16_Ser17insGlyGlyValAsp) rs863224243
NM_018062.3(FANCL):c.1007_1009delTAT (p.Ile336_Cys337delinsSer) rs747253294
NM_018062.3(FANCL):c.1051_1052delAG (p.Ser351Phefs) rs750871999
NM_018075.4(ANO10):c.1843G>A (p.Asp615Asn) rs138000380
NM_018105.2(THAP1):c.505C>T (p.Arg169Ter) rs1131691345
NM_018109.3(MTPAP):c.1072C>T (p.Arg358Trp) rs918158750
NM_018127.6(ELAC2):c.2342G>A (p.Arg781His) rs119484086
NM_018238.4(AGK):c.1141_1142dup (p.Ser382Alafs) rs1554405928
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) rs145475623
NM_018389.4(SLC35C1):c.503_505delTCT (p.Phe168del) rs587777655
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_018486.2(HDAC8):c.1112-2A>G rs1131690790
NM_018486.2(HDAC8):c.416G>C (p.Gly139Ala) rs878853048
NM_018699.3(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_018848.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398
NM_018849.2(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619
NM_018849.2(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.3(CLN8):c.611G>T (p.Arg204Leu) rs386834134
NM_018941.3(CLN8):c.661G>A (p.Gly221Ser) rs386834136
NM_018972.3(GDAP1):c.1019dup (p.Arg341Glnfs) rs756461496
NM_018972.3(GDAP1):c.109T>A (p.Ser37Thr) rs756121249
NM_018972.3(GDAP1):c.399G>A (p.Met133Ile) rs139808557
NM_018972.3(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.3(GDAP1):c.818G>A (p.Arg273Gln) rs879254192
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019098.4(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764
NM_019109.4(ALG1):c.149A>G (p.Gln50Arg) rs794726944
NM_019109.4(ALG1):c.827G>A (p.Arg276Gln) rs201975029
NM_020247.4(COQ8A):c.1229G>A (p.Arg410Gln) rs763311061
NM_020247.4(COQ8A):c.1665G>A (p.Met555Ile) rs199874519
NM_020247.4(COQ8A):c.811C>T (p.Arg271Cys) rs145034527
NM_020247.4(COQ8A):c.911C>T (p.Ala304Val) rs748118737
NM_020320.3(RARS2):c.1679G>A (p.Arg560His) rs756502974
NM_020320.3(RARS2):c.442A>G (p.Thr148Ala) rs143389605
NM_020320.3(RARS2):c.472_474delAAA (p.Lys158del) rs757743894
NM_020320.4(RARS2):c.1366C>T (p.Arg456Cys) rs147844153
NM_020361.4(CPA6):c.544C>T (p.Arg182Ter) rs773734224
NM_020361.4(CPA6):c.931C>T (p.Arg311Ter) rs139145929
NM_020366.3(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766
NM_020433.4(JPH2):c.1213G>T (p.Ala405Ser) rs557878787
NM_020433.4(JPH2):c.482C>A (p.Thr161Lys) rs587782951
NM_020549.4(CHAT):c.1840-9A>G rs1279554995
NM_020549.4(CHAT):c.406G>A (p.Val136Met) rs201479289
NM_020549.4(CHAT):c.620G>A (p.Arg207His) rs764497513
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020631.4(PLEKHG5):c.440-2A>G rs144750655
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His)
NM_020638.2(FGF23):c.211A>G (p.Ser71Gly) rs104894342
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_020745.2(AARS2):c.2728_2755del28 (p.Thr910Profs) rs780343109
NM_020745.3(AARS2):c.1534G>C (p.Asp512His) rs146512155
NM_020745.3(AARS2):c.985C>T (p.Arg329Cys) rs200187887
NM_020774.3(MIB1):c.1588C>T (p.Arg530Ter) rs201850378
NM_020800.2(IFT80):c.721G>C (p.Gly241Arg) rs138004478
NM_020822.2(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020919.3(ALS2):c.2479A>T (p.Thr827Ser) rs202219507
NM_020975.4(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.4(RET):c.2607+5G>A rs143862573
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538
NM_020988.2(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_021007.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_021007.2(SCN2A):c.2657T>C (p.Leu886Ser) rs796053118
NM_021007.2(SCN2A):c.4782G>C (p.Trp1594Cys) rs1057521747
NM_021007.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_021007.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_021008.3(DEAF1):c.676C>T (p.Arg226Trp) rs587777623
NM_021830.4(TWNK):c.1366C>G (p.Leu456Val) rs386834145
NM_021830.4(TWNK):c.247C>T (p.Pro83Ser) rs386834147
NM_021911.2(GABRB2):c.902A>G (p.Tyr301Cys) rs1064794996
NM_021922.2(FANCE):c.598C>T (p.Arg200Cys) rs763151358
NM_021942.5(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563
NM_021980.4(OPTN):c.127C>T (p.Gln43Ter) rs934287314
NM_021991.3(JUP):c.773A>G (p.Glu258Gly) rs794729052
NM_022041.3(GAN):c.944C>T (p.Pro315Leu) rs144486241
NM_022089.3(ATP13A2):c.477+2T>G rs758014228
NM_022124.5(CDH23):c.1515-12G>A rs369396703
NM_022124.5(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811
NM_022124.5(CDH23):c.5131G>A (p.Val1711Ile) rs181611778
NM_022124.5(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349
NM_022124.5(CDH23):c.6866A>G (p.Asn2289Ser) rs876657756
NM_022124.5(CDH23):c.8083G>A (p.Asp2695Asn) rs369501114
NM_022132.4(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.4(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718
NM_022132.4(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278