ClinVar Miner

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

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

Total variants with conflicting interpretations: 4190

HGVS dbSNP
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3
GRCh37/hg19 19p13.2(chr19:11210898-11222316)
GRCh37/hg19 22q11.22(chr22:22320654-22566334)x1
GRCh37/hg19 9p24.3(chr9:209753-236828)x1
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
NC_000012.11:g.88465636C>G
NC_012920.1:m.14597A>G rs797045055
NC_012920.1:m.15060G>A rs1057516072
NC_012920.1:m.15246G>A rs1057516075
NC_012920.1:m.15453T>C rs527236184
NC_012920.1:m.9166T>C rs1057516063
NM_000016.5(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772
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+1del 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.447G>T (p.Met149Ile) rs121434277
NM_000016.5(ACADM):c.503A>C (p.Asp168Ala) rs745844469
NM_000016.5(ACADM):c.526G>A (p.Ala176Thr) rs200754053
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.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_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu) rs183161718
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr) rs780571371
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000017.4(ACADS):c.596C>T (p.Ala199Val) rs766579880
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309
NM_000017.4(ACADS):c.815G>A (p.Arg272His) rs374726386
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln) rs932525260
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His) rs1555244280
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs) rs1555527532
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866
NM_000018.4(ACADVL):c.1183-15A>G rs765390290
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp) rs766742117
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) rs759775666
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser) rs398123088
NM_000018.4(ACADVL):c.482C>T (p.Ala161Val) rs796051908
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp) rs1220348903
NM_000018.4(ACADVL):c.62+6T>C rs1555527495
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.830_832AGA[1] (p.Lys278del) rs769280599
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_000018.4(ACADVL):c.890_892AGA[2] (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu) rs201676770
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) rs370720208
NM_000020.2(ACVRL1):c.1313T>C (p.Met438Thr) rs1555153828
NM_000020.2(ACVRL1):c.772G>A (p.Gly258Ser) rs1555152966
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del) rs1555568383
NM_000023.4(SGCA):c.307A>G (p.Ile103Val) rs370819630
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser) rs574376340
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg) rs1057521071
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln) rs28941471
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)
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.567G>T (p.Gln189His) rs139582106
NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile) rs34526199
NM_000038.6(APC):c.1867C>T (p.Arg623Trp) rs730881238
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.6(APC):c.3084T>A (p.Ser1028Arg) rs876660265
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.531+3A>C rs1114167550
NM_000038.6(APC):c.835-4T>G rs756807560
NM_000038.6(APC):c.835-7T>G rs1554079128
NM_000038.6(APC):c.934-2A>G rs1554079938
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000048.4(ASL):c.839G>A (p.Gly280Glu) rs1085307952
NM_000048.4(ASL):c.918+5G>A rs781331391
NM_000049.3(ASPA):c.237-2A>T rs780936696
NM_000049.3(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.3(ASPA):c.770C>G (p.Pro257Arg) rs377217076
NM_000051.3(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.3(ATM):c.2921+2dup rs1565424654
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.5177+5G>A rs759373136
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.5821G>C (p.Val1941Leu) rs147187700
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.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.3(ATM):c.6975+2T>C rs879254199
NM_000051.3(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.3(ATM):c.73-3C>G rs1555054039
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.7775C>G (p.Ser2592Cys) rs755009196
NM_000051.3(ATM):c.7816A>G (p.Ile2606Val) rs376824528
NM_000051.3(ATM):c.7927+5del rs786204437
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.967A>G (p.Ile323Val) rs587781511
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000053.3(ATP7B):c.-676A>G rs1021025464
NM_000053.4(ATP7B):c.1285+5G>T rs370579582
NM_000053.4(ATP7B):c.1707+2dup
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.1946+6T>C rs751287778
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2355+4A>G rs776572343
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser) rs1131691741
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter) rs760485585
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg) rs115624085
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.3558+1G>T rs148969222
NM_000057.4(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.475+4del 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+2dup rs587781486
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.7792_7794GAA[1] (p.Glu2599del) rs80359682
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.7988A>T (p.Glu2663Val) rs80359031
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_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
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.8954-5A>G rs886040949
NM_000059.3(BRCA2):c.8975_9100del (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.9374T>A (p.Leu3125His) rs80359209
NM_000059.3(BRCA2):c.93G>T (p.Trp31Cys) rs80359214
NM_000059.3(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.3(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000060.3(BTD):c.310-15delT rs587783008
NM_000061.2(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
NM_000061.2(BTK):c.1697C>T (p.Pro566Leu) rs1057521814
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp) rs774273767
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905
NM_000070.3(CAPN3):c.1115+5G>C rs886039597
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) rs139836397
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2255_2257ACG[1] (p.Asp753del) rs886043333
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786
NM_000070.3(CAPN3):c.2440-1G>A rs886044052
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995
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) rs745704046
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.667-14_667-7del rs764160782
NM_000071.2(CBS):c.770C>T (p.Thr257Met) rs758236584
NM_000074.2(CD40LG):c.440C>A (p.Thr147Asn) rs1057521127
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>A (p.Asp84Asn) rs11552822
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.341C>T (p.Pro114Leu) rs121913386
NM_000077.4(CDKN2A):c.67G>T (p.Gly23Cys) rs1131691186
NM_000080.3(CHRNE):c.37G>A (p.Gly13Arg) rs372635387
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778
NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?) rs1555546038
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.2403+5G>A rs1474520642
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) rs80356685
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)
NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_000086.2(CLN3):c.47-1G>A rs1555469477
NM_000086.2(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_000086.2(CLN3):c.790+3A>C rs386833738
NM_000086.2(CLN3):c.837+5G>A rs756848924
NM_000086.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_000086.2(CLN3):c.988G>A (p.Val330Ile) rs386833744
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_000088.3(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799
NM_000089.3(COL1A2):c.1148C>A (p.Pro383His) rs193922159
NM_000089.3(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000090.3(COL3A1):c.1204G>A (p.Gly402Ser) rs1064797017
NM_000090.3(COL3A1):c.1232G>A (p.Gly411Glu) rs886038816
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.361G>A (p.Gly121Ser) rs778886174
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_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000092.4(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123
NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000092.4(COL4A4):c.4708G>A (p.Glu1570Lys)
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_86del (p.27_28IL[1]) rs771943519
NM_000094.3(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838
NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193
NM_000096.4(CP):c.583G>A (p.Gly195Arg) rs750451693
NM_000097.7(CPOX):c.995G>A (p.Arg332Gln) rs781627991
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000098.3(CPT2):c.371G>C (p.Arg124Pro) rs1131691925
NM_000100.3(CSTB):c.1_2insAT (p.Met1fs) rs1044894207
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys) rs763303046
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000110.3(DPYD):c.1774C>T (p.Arg592Trp) rs59086055
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.1650del (p.Ser551fs) rs386833497
NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val) rs104893918
NM_000112.3(SLC26A2):c.403C>A (p.Gln135Lys) rs386833504
NM_000116.5(TAZ):c.790A>G (p.Lys264Glu) rs1557194488
NM_000118.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_000126.4(ETFA):c.2T>C (p.Met1Thr) rs727503918
NM_000127.2(EXT1):c.1021A>G (p.Arg341Gly) rs1554580149
NM_000128.3(F11):c.1481-1G>T rs1057516506
NM_000128.3(F11):c.302A>G (p.Lys101Arg) rs281875272
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.3(F11):c.599G>A (p.Cys200Tyr) rs757817254
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000129.3(F13A1):c.1777G>A (p.Gly593Ser)
NM_000130.4(F5):c.1321C>T (p.Arg441Cys) rs747006175
NM_000130.4(F5):c.911G>A (p.Gly304Glu)
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000132.3(F8):c.599A>G (p.Glu200Gly) rs782158761
NM_000132.3(F8):c.6623A>G (p.Gln2208Arg) rs782198570
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe) rs1216426444
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_000135.4(FANCA):c.3602_3604AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729
NM_000135.4(FANCA):c.4261-2A>C rs915983602
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000137.3(FAH):c.107T>C (p.Ile36Thr) rs774648934
NM_000137.3(FAH):c.398A>T (p.His133Leu) rs775152764
NM_000137.3(FAH):c.696C>T (p.Asn232=) rs533540262
NM_000137.3(FAH):c.81+2T>A rs772895065
NM_000138.4(FBN1):c.1147G>A (p.Glu383Lys) rs794728325
NM_000138.4(FBN1):c.1390C>T (p.Arg464Cys) rs587782943
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.1634G>A (p.Arg545His) rs193922179
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.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.3020T>G (p.Leu1007Arg) rs794728200
NM_000138.4(FBN1):c.3184G>A (p.Asp1062Asn) rs758366498
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.3650G>A (p.Gly1217Asp) rs1555398397
NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
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.4022A>G (p.Asn1341Ser) rs140638
NM_000138.4(FBN1):c.4146T>A (p.Asn1382Lys) rs794728218
NM_000138.4(FBN1):c.4151T>C (p.Met1384Thr) rs1555397658
NM_000138.4(FBN1):c.4243T>C (p.Cys1415Arg) rs1555397557
NM_000138.4(FBN1):c.4330T>A (p.Cys1444Ser) rs869025406
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.5073_5075AAG[1] (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.7016G>A (p.Cys2339Tyr) rs1555394580
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.7784G>A (p.Gly2595Asp) rs397515857
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.8005G>A (p.Gly2669Ser) rs794728281
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.8447A>C (p.His2816Pro) rs1555393532
NM_000138.4(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
NM_000138.4(FBN1):c.911G>A (p.Cys304Tyr) rs1555401011
NM_000140.4(FECH):c.315-48T>C rs2272783
NM_000142.4(FGFR3):c.1052C>G (p.Ser351Cys) rs1057517964
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.4(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000142.4(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
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.132G>A (p.Met44Ile) rs863223982
NM_000143.3(FH):c.1431_1433dup (p.Lys477dup) 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.591_593TGC[2] (p.Ala200del) rs786202907
NM_000143.3(FH):c.700A>G (p.Thr234Ala) rs372505976
NM_000143.3(FH):c.782G>T (p.Arg261Ile) rs61736558
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.965T>G (p.Val322Gly) rs863224003
NM_000146.4(FTL):c.169G>A (p.Glu57Lys) rs201241191
NM_000151.4(G6PC):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC):c.943C>G (p.Pro315Ala) rs143321486
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys) rs1057524664
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly) rs1060499761
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.157T>A (p.Trp53Arg) rs1131691837
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.329G>A (p.Gly110Glu) rs1057523885
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.617A>G (p.Gln206Arg)
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.893T>C (p.Met298Thr) rs886042064
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup) rs779931959
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1102C>T (p.Arg368Cys) rs374306700
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000157.4(GBA):c.1227C>A (p.Asn409Lys) rs749227753
NM_000157.4(GBA):c.535G>C (p.Asp179His) rs147138516
NM_000157.4(GBA):c.637C>T (p.Leu213Phe) rs374591570
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro) rs398123190
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu) rs886043840
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp) rs964724051
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) rs794726972
NM_000161.3(GCH1):c.343G>A (p.Asp115Asn) rs1393095176
NM_000161.3(GCH1):c.400G>A (p.Asp134Asn) rs1353623780
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del) rs1131691505
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.5(GCK):c.122T>C (p.Met41Thr) rs1057524906
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627
NM_000162.5(GCK):c.146C>A (p.Thr49Asn) rs193922286
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.605T>C (p.Met202Thr) rs193922311
NM_000162.5(GCK):c.730G>A (p.Val244Met) rs1240035630
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.833A>T (p.Asp278Val) rs193922333
NM_000162.5(GCK):c.917T>C (p.Leu306Pro) rs193922337
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.113T>G (p.Val38Gly) rs863224612
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys) rs879253935
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.178T>C (p.Cys60Arg) rs1060501004
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr) rs1555937082
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala) rs878853697
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.307A>G (p.Lys103Glu) rs1131691322
NM_000166.6(GJB1):c.324dup (p.Glu109Ter) rs1555937143
NM_000166.6(GJB1):c.34G>A (p.Gly12Ser) rs1555936999
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn) rs876661119
NM_000166.6(GJB1):c.376C>T (p.His126Tyr) rs879253995
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu) rs1555937180
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys)
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys) rs1555937009
NM_000166.6(GJB1):c.526_555dup (p.Thr176_Thr185dup) rs1555937221
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu) rs771022595
NM_000166.6(GJB1):c.542T>A (p.Val181Glu) rs876661252
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.566T>G (p.Val189Gly) rs1064794244
NM_000166.6(GJB1):c.610C>A (p.Leu204Ile) rs1064795540
NM_000166.6(GJB1):c.610C>G (p.Leu204Val)
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000166.6(GJB1):c.83T>C (p.Ile28Thr) rs768834663
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000168.6(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.151A>C (p.Met51Leu) rs1569306069
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_000169.2(GLA):c.692A>C (p.Asp231Ala) rs1569303295
NM_000170.2(GLDC):c.1926+5G>A rs1554644678
NM_000170.2(GLDC):c.1931G>A (p.Cys644Tyr)
NM_000170.2(GLDC):c.2033_2035del (p.Ala678del) rs769625871
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.2938A>G (p.Asn980Asp) rs772574530
NM_000175.5(GPI):c.572A>G (p.His191Arg)
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.1316A>G (p.Asp439Gly) rs786202363
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.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.3601C>G (p.Leu1201Val) rs182024561
NM_000179.2(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
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_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.2(MSH6):c.3802-7_3802-4del 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_4007dup (p.Cys1337fs) rs876658497
NM_000180.3(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357
NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) rs552184470
NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.3(GUCY2D):c.2618C>G (p.Pro873Arg) rs1567961680
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn)
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys) rs370170143
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg) rs200438844
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp) rs1240187200
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu) rs794727700
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(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_000191.3(HMGCL):c.497+4A>G rs568718845
NM_000192.3(TBX5):c.510+5G>A rs1555226301
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.Arg382_His383insGlnArg) rs398123244
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000214.3(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.31G>A (p.Glu11Lys) rs959449103
NM_000218.2(KCNQ1):c.377A>T (p.His126Leu) rs794728579
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_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_000228.3(LAMB3):c.2011del (p.Leu671fs) rs1057516822
NM_000228.3(LAMB3):c.223_224CA[1] (p.His75fs) rs886045870
NM_000228.3(LAMB3):c.298+2T>C rs1057517312
NM_000228.3(LAMB3):c.978del (p.Phe327fs) rs763559509
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro) rs772684869
NM_000235.4(LIPA):c.256C>T (p.His86Tyr) rs749180806
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg) rs1554866097
NM_000235.4(LIPA):c.294C>G (p.Asn98Lys) rs767688436
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg) rs766364179
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.1894G>A (p.Gly632Ser) rs104895128
NM_000243.2(MEFV):c.1958G>A (p.Arg653His) rs104895085
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.2(MEFV):c.800C>T (p.Thr267Ile) rs104895081
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000244.3(MEN1):c.*470A>G rs778272737
NM_000244.3(MEN1):c.1079G>A (p.Arg360Gln) rs1114167474
NM_000244.3(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_000244.3(MEN1):c.266_286del (p.Leu89_Ala95del) rs1064792906
NM_000244.3(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_000244.3(MEN1):c.482G>A (p.Gly161Asp) rs794728648
NM_000244.3(MEN1):c.737G>A (p.Cys246Tyr) rs794728624
NM_000244.3(MEN1):c.76G>A (p.Glu26Lys) rs28931612
NM_000244.3(MEN1):c.803T>C (p.Leu268Pro) rs1114167502
NM_000244.3(MEN1):c.845C>A (p.Pro282His) rs1060499973
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.1667G>C (p.Ser556Thr) rs63751596
NM_000249.3(MLH1):c.1668-3C>A rs267607844
NM_000249.3(MLH1):c.1731+1G>C rs267607853
NM_000249.3(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.3(MLH1):c.1757C>A (p.Ala586Asp) rs63750587
NM_000249.3(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.3(MLH1):c.1897-2A>G rs267607871
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.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.Arg755fs) rs267607904
NM_000249.3(MLH1):c.250A>G (p.Lys84Glu) rs63750641
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.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.440G>A (p.Gly147Glu) rs1060500702
NM_000249.3(MLH1):c.453G>A (p.Thr151=) rs369521379
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.678-3T>A rs267607785
NM_000249.3(MLH1):c.884+3A>G rs267607803
NM_000249.3(MLH1):c.884G>C (p.Ser295Thr) rs63750144
NM_000249.3(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000249.4(MLH1):c.2038T>G rs63750809
NM_000251.2(MSH2):c.1012G>C (p.Gly338Arg) rs63751004
NM_000251.2(MSH2):c.10C>T (p.Gln4Ter) rs878853797
NM_000251.2(MSH2):c.1316_1318delCTC 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.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+2dup rs541623924
NM_000251.2(MSH2):c.2005+3_2005+14del rs587779125
NM_000251.2(MSH2):c.2005G>T (p.Gly669Cys) rs63751668
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.2634G>C (p.Glu878Asp) rs63751624
NM_000251.2(MSH2):c.2635-1G>T rs267608020
NM_000251.2(MSH2):c.2635-2A>C rs1114167818
NM_000251.2(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000252.2(MTM1):c.1260+5G>A rs587783769
NM_000252.2(MTM1):c.1291G>A (p.Asp431Asn) rs886044782
NM_000255.4(MMUT):c.1084-10A>G rs777031588
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) rs397515884
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly) rs730880633
NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val) rs11570077
NM_000256.3(MYBPC3):c.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.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1510_1512AAG[1] (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.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.2432_2434AGA[3] (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.2573G>A (p.Ser858Asn) rs727503185
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.290C>T (p.Ala97Val) rs397515993
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.3404_3406ACT[1] (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_3628-17del25 rs36212066
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val) rs727504259
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.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp) rs727504380
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.495G>C (p.Glu165Asp) rs730880619
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_000257.4(MYH7):c.1003G>C (p.Ala335Pro) rs727503272
NM_000257.4(MYH7):c.1012G>A (p.Val338Met) rs727503271
NM_000257.4(MYH7):c.1013T>C (p.Val338Ala) rs397516087
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro) rs397516089
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr) rs727504753
NM_000257.4(MYH7):c.1148A>G (p.Lys383Arg) rs397516092
NM_000257.4(MYH7):c.1193G>A (p.Gly398Glu) rs730880158
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile) rs730880868
NM_000257.4(MYH7):c.1273G>A (p.Gly425Arg) rs397516097
NM_000257.4(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103
NM_000257.4(MYH7):c.1477_1478del (p.Met493fs) rs727504336
NM_000257.4(MYH7):c.1495_1497GAG[1] (p.Glu500del) rs1555338254
NM_000257.4(MYH7):c.1532T>C (p.Ile511Thr) rs397516110
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn) rs564101364
NM_000257.4(MYH7):c.1700G>A (p.Arg567His) rs377491278
NM_000257.4(MYH7):c.1888+1G>A rs113186231
NM_000257.4(MYH7):c.1969A>C (p.Lys657Gln) rs727503264
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2012G>A (p.Arg671His) rs730880883
NM_000257.4(MYH7):c.2069T>C (p.Met690Thr) rs397516128
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240
NM_000257.4(MYH7):c.2081G>A (p.Arg694His) rs886039030
NM_000257.4(MYH7):c.2149G>A (p.Asp717Asn) rs1057524857
NM_000257.4(MYH7):c.2153T>G (p.Phe718Cys) rs1060501432
NM_000257.4(MYH7):c.2156G>C (p.Arg719Pro) rs121913641
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138
NM_000257.4(MYH7):c.2213G>C (p.Ser738Thr) rs730880894
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn) rs730880895
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142
NM_000257.4(MYH7):c.2378G>A (p.Arg793Gln) rs730880896
NM_000257.4(MYH7):c.2464A>T (p.Met822Leu) rs730880742
NM_000257.4(MYH7):c.2471T>C (p.Val824Ala) rs727503255
NM_000257.4(MYH7):c.2510A>T (p.Lys837Met) rs1060501439
NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn) rs397516154
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln) rs730880748
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2572C>G (p.Arg858Gly) rs2754158
NM_000257.4(MYH7):c.2581G>A (p.Glu861Lys) rs868789318
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2649_2651GAA[1] (p.Lys884del) rs193922387
NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu) rs727503254
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.2707G>A (p.Glu903Lys) rs730880756
NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys) rs730880759
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn) rs886039204
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.298G>A (p.Ala100Thr) rs730880154
NM_000257.4(MYH7):c.29G>C (p.Gly10Ala) rs730880826
NM_000257.4(MYH7):c.3020T>C (p.Leu1007Pro) rs730880763
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) rs397516179
NM_000257.4(MYH7):c.323G>A (p.Arg108His) rs730880832
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699
NM_000257.4(MYH7):c.3337G>A (p.Ala1113Thr) rs193922388
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr) rs730880833
NM_000257.4(MYH7):c.343T>C (p.Tyr115His) rs397516183
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187
NM_000257.4(MYH7):c.3592G>T (p.Asp1198Tyr) rs730880778
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met) rs529700838
NM_000257.4(MYH7):c.3622G>A (p.Asp1208Asn) rs730880781
NM_000257.4(MYH7):c.3645G>C (p.Gln1215His) rs863225096
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn) rs730880906
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys) rs730880785
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.4(MYH7):c.4470G>C (p.Glu1490Asp) rs730880911
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu) rs730880837
NM_000257.4(MYH7):c.457del (p.His153fs) rs397516224
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) rs373514686
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000257.4(MYH7):c.511A>C (p.Asn171His) rs730880842
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340
NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys) rs397516241
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) rs139222507
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246
NM_000257.4(MYH7):c.5344A>G (p.Met1782Val) rs727504385
NM_000257.4(MYH7):c.5380C>G (p.Gln1794Glu) rs397516247
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000257.4(MYH7):c.5399C>T (p.Ala1800Val) rs730880817
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.550A>C (p.Lys184Gln) rs730880843
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys) rs730880821
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His) rs727503240
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln) rs727504273
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu) rs727503277
NM_000257.4(MYH7):c.646C>G (p.Leu216Val) rs772488436
NM_000257.4(MYH7):c.676G>A (p.Ala226Thr) rs1057517773
NM_000257.4(MYH7):c.707T>C (p.Val236Ala) rs397516262
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000257.4(MYH7):c.725C>G (p.Ser242Cys) rs730880921
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000257.4(MYH7):c.732+2T>G rs1555338658
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.758G>T (p.Gly253Val) rs730880853
NM_000257.4(MYH7):c.789A>G (p.Ile263Met) rs730880855
NM_000257.4(MYH7):c.848A>G (p.Tyr283Cys) rs727503274
NM_000257.4(MYH7):c.872C>T (p.Ser291Phe) rs397516272
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000257.4(MYH7):c.964T>A (p.Ser322Thr) rs730880859
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424
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_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511
NM_000260.4(MYO7A):c.132+5G>A rs397516284
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000267.3(NF1):c.1063-13G>A rs1131691066
NM_000267.3(NF1):c.1070T>G (p.Leu357Arg) rs137854563
NM_000267.3(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_000267.3(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_000267.3(NF1):c.1260+5G>A
NM_000267.3(NF1):c.1528-1G>T rs876660595
NM_000267.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_000267.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
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.278G>A (p.Cys93Tyr) rs199474728
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.3586C>G (p.Leu1196Val) rs1555615039
NM_000267.3(NF1):c.4172G>C (p.Arg1391Thr) rs1555618516
NM_000267.3(NF1):c.4180A>C (p.Asn1394His) rs1555618518
NM_000267.3(NF1):c.4265C>T (p.Ser1422Leu) rs1555618566
NM_000267.3(NF1):c.4267A>C (p.Lys1423Gln) rs137854550
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.4481A>G (p.Gln1494Arg) rs1135402865
NM_000267.3(NF1):c.5164G>C (p.Ala1722Pro) rs878853900
NM_000267.3(NF1):c.5248A>G (p.Lys1750Glu) rs1131691103
NM_000267.3(NF1):c.5648A>G (p.Asn1883Ser) rs864622647
NM_000267.3(NF1):c.6084G>C (p.Lys2028Asn) rs1135402882
NM_000267.3(NF1):c.647T>G (p.Leu216Arg)
NM_000267.3(NF1):c.6622T>C (p.Trp2208Arg) rs1060500342
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.6642-3C>G rs1131691079
NM_000267.3(NF1):c.6858+3A>G rs1085307885
NM_000267.3(NF1):c.7637C>T (p.Pro2546Leu) rs754511534
NM_000267.3(NF1):c.959C>A (p.Ala320Asp) rs1555610884
NM_000270.3(PNP):c.769C>G (p.His257Asp)
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu) rs774333145
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659
NM_000271.5(NPC1):c.1947+5G>C rs770321568
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000271.5(NPC1):c.810_812CAT[1] (p.Ile271del) rs1243863645
NM_000274.3(OAT):c.1311G>T (p.Leu437Phe) rs1800456
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) rs281865431
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
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.1352_1356TAAAG[1] (p.Ter453ProextTer?) rs794727086
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695
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.559T>C (p.Trp187Arg) rs62507272
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.757G>A (p.Asp253Asn) rs765533320
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_000277.3(PAH):c.887A>G (p.Asp296Gly) rs281865446
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958
NM_000280.4(PAX6):c.1033-3C>G rs886044223
NM_000280.4(PAX6):c.255C>T (p.Ser85=) rs1064793223
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981
NM_000283.3(PDE6B):c.299G>A (p.Arg100His) rs555600300
NM_000283.3(PDE6B):c.739T>A (p.Phe247Ile) rs780521818
NM_000284.4(PDHA1):c.311T>C (p.Leu104Pro) rs794727621
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894
NM_000286.3(PEX12):c.362_364TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.681-2A>C rs187526749
NM_000287.4(PEX6):c.1130+2T>C rs1416001981
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.2095-21_2095-10del rs772869377
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000291.4(PGK1):c.639C>T (p.Gly213=) rs797044505
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro) rs797044921
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg) rs764220898
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988
NM_000299.3(PKP1):c.1199C>T (p.Pro400Leu) rs483352688
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.308A>G (p.Gln103Arg) rs786204064
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(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_000312.3(PROC):c.1237A>G (p.Thr413Ala) rs572021052
NM_000312.3(PROC):c.565C>T (p.Arg189Trp) rs146922325
NM_000312.3(PROC):c.962C>T (p.Pro321Leu) rs1321566264
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.1133_1136del (p.Arg378fs) rs1064794878
NM_000314.7(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.7(PTEN):c.170T>G (p.Leu57Trp) rs786202398
NM_000314.7(PTEN):c.1A>G (p.Met1Val) rs1554890324
NM_000314.7(PTEN):c.287C>T (p.Pro96Leu) rs1554898074
NM_000314.7(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.7(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.7(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.7(PTEN):c.44G>A (p.Arg15Lys) rs398123324
NM_000314.7(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.7(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.7(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.7(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.7(PTEN):c.610C>G (p.Pro204Ala) rs786204868
NM_000314.7(PTEN):c.634+5G>C rs138336847
NM_000314.7(PTEN):c.635-3C>G rs1085308056
NM_000314.7(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.7(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.7(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.7(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.7(PTEN):c.802-2del rs886047397
NM_000314.7(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.7(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.7(PTEN):c.947T>C (p.Leu316Pro) rs1064793345
NM_000317.3(PTS):c.248C>A (p.Ala83Glu) rs775426269
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932
NM_000317.3(PTS):c.83+1G>A rs927103678
NM_000321.2(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583
NM_000329.3(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.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149
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.2861_2862GA[2] (p.Glu955fs) rs756159737
NM_000339.3(SLC12A3):c.1964G>A (p.Arg655His) rs121909380
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.2588G>C rs76157638
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) rs61748537
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln) rs775488556
NM_000353.3(TAT):c.340G>A (p.Gly114Ser) rs759311161
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp) rs771820315
NM_000360.4(TH):c.1388C>T (p.Thr463Met) rs45471299
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000363.5(TNNI3):c.302A>G (p.His101Arg) rs730881087
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln) rs727503506
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) rs730881069
NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp) rs730881071
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn) rs397516348
NM_000363.5(TNNI3):c.451G>A (p.Ala151Thr) rs730881072
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000363.5(TNNI3):c.493G>T (p.Glu165Ter) rs1057521530
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242
NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) rs727503504
NM_000363.5(TNNI3):c.526G>A (p.Val176Met) rs727503501
NM_000363.5(TNNI3):c.562G>A (p.Val188Met) rs193922409
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285
NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn) rs730881091
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys) rs727504243
NM_000363.5(TNNI3):c.624dup (p.Glu209Ter)
NM_000364.4(TNNT2):c.268C>T (p.Pro90Ser) rs397516451
NM_000364.4(TNNT2):c.277G>A (p.Glu93Lys) rs727504244
NM_000364.4(TNNT2):c.281G>C (p.Arg94Thr) rs397516452
NM_000364.4(TNNT2):c.287A>C (p.Asp96Ala) rs397516455
NM_000364.4(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_000364.4(TNNT2):c.422G>C (p.Arg141Pro) rs397516464
NM_000364.4(TNNT2):c.445C>T (p.Arg149Cys) rs397516465
NM_000364.4(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_000364.4(TNNT2):c.452G>A (p.Arg151Gln) rs730881101
NM_000364.4(TNNT2):c.460C>T (p.Arg154Trp) rs483352832
NM_000364.4(TNNT2):c.490-1G>C rs111344408
NM_000364.4(TNNT2):c.506G>A (p.Arg169Gln) rs45501500
NM_000364.4(TNNT2):c.544G>T (p.Ala182Ser) rs730881097
NM_000364.4(TNNT2):c.601-373G>A rs483352835
NM_000364.4(TNNT2):c.634C>T (p.Arg212Trp) rs45586240
NM_000364.4(TNNT2):c.635G>A (p.Arg212Gln) rs121964860
NM_000364.4(TNNT2):c.755C>T (p.Ala252Val) rs369181536
NM_000364.4(TNNT2):c.766G>A (p.Asp256Asn) rs141805127
NM_000364.4(TNNT2):c.775G>A (p.Glu259Lys) rs727504488
NM_000364.4(TNNT2):c.801+5G>A rs730881113
NM_000364.4(TNNT2):c.842+5G>A rs193922620
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000369.2(TSHR):c.394G>C (p.Gly132Arg) rs760874290
NM_000369.3(TSHR):c.202C>T rs142063461
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236
NM_000371.3(TTR):c.165G>T (p.Lys55Asn) rs1567945684
NM_000371.3(TTR):c.220_221inv (p.Glu74Ser) rs730881168
NM_000371.3(TTR):c.239C>T (p.Thr80Ile) rs1254341785
NM_000371.3(TTR):c.88T>C (p.Cys30Arg) rs121918083
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) rs200305064
NM_000379.4(XDH):c.1686+1G>C rs148412639
NM_000380.3(XPA):c.323G>A (p.Cys108Tyr) rs104894131
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) rs193922417
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.3(APOB):c.13477_13479CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.2188G>A (p.Val730Ile) rs12691202
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr) rs759845943
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys) rs146377316
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) rs1064794291
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp) rs751217000
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432
NM_000388.4(CASR):c.2243C>A (p.Pro748Gln) rs193922433
NM_000388.4(CASR):c.659G>A (p.Arg220Gln) rs1202110240
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn) rs145966505
NM_000391.4(TPP1):c.887-18A>G rs935526225
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.1A>G (p.Met1Val) rs563606558
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg) rs1040238147
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000396.4(CTSK):c.541T>C (p.Tyr181His) rs868112062
NM_000397.3(CYBB):c.1231A>T (p.Ile411Phe) rs1057521937
NM_000399.5(EGR2):c.1066G>C (p.Glu356Gln) rs751448371
NM_000400.3(ERCC2):c.1479+2dup rs776705174
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000411.8(HLCS):c.1533dup (p.Val512fs) rs767533946
NM_000411.8(HLCS):c.1680+1G>A rs1175936807
NM_000411.8(HLCS):c.1711G>A (p.Asp571Asn) rs119103228
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp) rs773305477
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000426.3(LAMA2):c.149C>T (p.Ala50Val) rs191899712
NM_000426.3(LAMA2):c.1580G>A (p.Cys527Tyr) rs121913574
NM_000426.3(LAMA2):c.2054T>C (p.Leu685Pro) rs746641607
NM_000426.3(LAMA2):c.4523G>A (p.Arg1508Lys) rs770084568
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_000426.3(LAMA2):c.8556_8558del (p.Ile2852del) rs398123389
NM_000426.3(LAMA2):c.9211+6T>C rs201375881
NM_000426.3(LAMA2):c.9253C>T rs121913571
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861
NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys) rs137854862
NM_000429.3(MAT1A):c.740G>A (p.Ser247Asn) rs1131691739
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324
NM_000431.4(MVK):c.904C>T (p.Gln302Ter) rs886048933
NM_000432.3(MYL2):c.163G>T (p.Ala55Ser) rs727504425
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.431del (p.Pro144fs) rs786205430
NM_000432.3(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000432.3(MYL2):c.488A>G (p.Glu163Gly) rs397516407
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.2(SLC26A4):c.-103T>C rs60284988
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser) rs750834241
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619
NM_000443.4(ABCB4):c.3230C>T (p.Thr1077Met) rs754565782
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000447.3(PSEN2):c.448G>A (p.Val150Met) rs866044092
NM_000448.2(RAG1):c.2603C>T (p.Ala868Val) rs193922462
NM_000448.2(RAG1):c.2981A>G (p.His994Arg) rs775412266
NM_000448.2(RAG1):c.335G>A (p.Arg112His) rs749223640
NM_000448.2(RAG1):c.527G>T (p.Cys176Phe) rs149229197
NM_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_157del (p.Gly52del) rs1131690917
NM_000455.4(STK11):c.159_170del (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) rs1568708382
NM_000455.4(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000455.4(STK11):c.971C>T (p.Pro324Leu) rs367807476
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr) rs138986885
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His) rs886043813
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser) rs193922492
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser) rs193922493
NM_000462.5(UBE3A):c.2572_2577del (p.Leu858_Lys859del) rs863225070
NM_000465.4(BARD1):c.2002-1G>A rs762601855
NM_000465.4(BARD1):c.2002-2A>C rs876658260
NM_000465.4(BARD1):c.2002-2A>T rs876658260
NM_000465.4(BARD1):c.2296_2297TG[2] (p.Val767fs) rs750413473
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del) rs1554372756
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro) rs1085307555
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000481.3(AMT):c.887G>A (p.Arg296His) rs386833690
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391
NM_000487.6(ARSA):c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) rs786200965
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459
NM_000488.3(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548
NM_000488.3(SERPINC1):c.1315C>T (p.Pro439Ser) rs1487411568
NM_000488.3(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551
NM_000488.3(SERPINC1):c.236G>A (p.Arg79His) rs121909552
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.1054C>T (p.Arg352Trp) rs193922497
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) rs151020603
NM_000492.3(CFTR):c.1394C>A (p.Thr465Asn) rs758900656
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.1580A>G (p.Glu527Gly) rs374453187
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.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.2421A>G (p.Ile807Met) rs144055758
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.3047T>C (p.Phe1016Ser) rs397508488
NM_000492.3(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
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.3485G>T (p.Arg1162Leu) rs1800120
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.38C>T (p.Ser13Phe) rs397508635
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585
NM_000492.3(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000492.3(CFTR):c.581G>T (p.Gly194Val) rs397508763
NM_000492.3(CFTR):c.592G>A (p.Ala198Thr) rs193922529
NM_000492.3(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
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.859A>T (p.Asn287Tyr) rs397508804
NM_000492.3(CFTR):c.869+5G>A rs533959068
NM_000492.3(CFTR):c.941G>A (p.Gly314Glu) rs75763344
NM_000492.3(CFTR):c.958T>G (p.Leu320Val) rs144476686
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu)
NM_000495.5(COL4A5):c.687+5G>A rs1556405930
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000501.4(ELN):c.659C>T (p.Pro220Leu) rs201012726
NM_000506.4(F2):c.1814_1815del (p.His605fs) rs776618390
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp) rs200679026
NM_000512.5(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_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys) rs1064794856
NM_000520.6(HEXA):c.536A>G (p.His179Arg) rs747372270
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.558+5G>A rs892920643
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564
NM_000525.3(KCNJ11):c.718dup (p.Met240fs) 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_-154delinsTTCTGCAAACTCCT rs879254365
NM_000527.4(LDLR):c.-156C>T rs879254364
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.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.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.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.1414G>A (p.Asp472Asn) rs730882102
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.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.1634G>A (p.Gly545Glu) rs759876319
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.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.1829_1831del (p.Ser610del) rs879255037
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.1843G>A (p.Glu615Lys) rs879255045
NM_000527.4(LDLR):c.1845G>A (p.Glu615=) rs879255047
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.2023G>A (p.Gly675Ser) rs770744861
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>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.2215C>T (p.Gln739Ter) rs370018159
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
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.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.283T>G (p.Cys95Gly) rs879254456
NM_000527.4(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.4(LDLR):c.2T>C (p.Met1Thr) rs1555800701
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.44T>C (p.Leu15Pro) rs879254390
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.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.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.939C>G (p.Cys313Trp) rs13306512
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_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) rs864622732
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) rs786204119
NM_000530.8(MPZ):c.276G>A (p.Val92=) rs1558154193
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg) rs1060503423
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys) rs1553259663
NM_000530.8(MPZ):c.335T>C (p.Ile112Thr) rs1553259662
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) rs1553259656
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn) rs267607243
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys) rs863224449
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_000531.6(OTC):c.-106C>A rs749748052
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000535.7(PMS2):c.2534A>T (p.His845Leu) rs1554292741
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.917T>A (p.Val306Glu) rs786201878
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) rs193922573
NM_000536.4(RAG2):c.218G>A (p.Arg73His) rs762407838
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575
NM_000536.4(RAG2):c.479C>T (p.Ser160Leu) rs756694972
NM_000540.2(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.2(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839
NM_000540.2(RYR1):c.122T>C (p.Phe41Ser) rs766407858
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.13724A>C (p.Asn4575Thr) rs1568591803
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) rs1568605367
NM_000540.2(RYR1):c.14672G>A (p.Gly4891Asp) rs398123470
NM_000540.2(RYR1):c.14801A>G (p.Gln4934Arg) rs1568611775
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) rs1568614042
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.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.3800C>G (p.Pro1267Arg) rs150495044
NM_000540.2(RYR1):c.5120G>A (p.Arg1707His) rs371566475
NM_000540.2(RYR1):c.6599C>T (p.Ala2200Val) rs193922791
NM_000540.2(RYR1):c.6671G>A (p.Arg2224His) rs537994744
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_000540.2(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp) rs398123475
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769
NM_000543.5(SMPD1):c.56del (p.Gln19fs) rs1554933746
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770
NM_000545.6(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.6(HNF1A):c.734G>T (p.Gly245Val) rs193922603
NM_000546.5(TP53):c.375+5G>A rs1555526466
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.3599G>A (p.Arg1200Gln) rs397515225
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys) rs886039446
NM_000548.5(TSC2):c.5260-1G>C rs1057518103
NM_000551.3(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.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.320G>C (p.Arg107Pro) rs193922609
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.Cys162_Arg167dup) rs1553620312
NM_000551.3(VHL):c.556G>A (p.Glu186Lys) rs367545984
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.1625C>G (p.Ala542Gly) rs141649383
NM_000552.4(VWF):c.1922C>T (p.Ala641Val) rs61754019
NM_000552.4(VWF):c.3613C>T (p.Arg1205Cys) rs373787920
NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.4(VWF):c.4082T>C (p.Leu1361Ser) rs61749408
NM_000552.4(VWF):c.4195C>T (p.Arg1399Cys) rs61750077
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000552.4(VWF):c.5191T>A (p.Ser1731Thr) rs61750603
NM_000552.4(VWF):c.5278G>A (p.Val1760Ile) rs61750604
NM_000552.4(VWF):c.5851A>G (p.Thr1951Ala) rs144072210
NM_000552.4(VWF):c.658-3C>A
NM_000552.4(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006
NM_000642.3(AGL):c.3814_3815AG[1] (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058
NM_000642.3(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_000687.4(AHCY):c.266C>T (p.Ala89Val) rs755222515
NM_000702.4(ATP1A2):c.2438T>A (p.Met813Lys) rs796052277
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His) rs398123486
NM_000709.4(BCKDHA):c.288+9C>T rs398123497
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp) rs373713279
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile) rs193922615
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe) rs886042322
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu) rs1064796396
NM_000751.3(CHRND):c.1345_1346del (p.Met449fs) rs1553575435
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796
NM_000814.6(GABRB3):c.239T>C (p.Met80Thr) rs1064794797
NM_000834.4(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.4(GRIN2B):c.1721_1726TCTTTG[1] (p.574_575VF[1]) rs1555111511
NM_000834.4(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_000834.4(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.4(GRIN2B):c.2450A>G (p.Asn817Ser) rs1555103159
NM_000834.4(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
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_001001547.3(CD36):c.1254+1G>A rs148051111
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys)
NM_001005271.3(CHD3):c.3130C>T (p.Arg1044Trp) rs1555611722
NM_001005273.2(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
NM_001005336.3(DNM1):c.112G>A (p.Gly38Ser) rs1131692025
NM_001006657.2(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_001006658.2(CR2):c.2298G>A (p.Trp766Ter) rs151093663
NM_001007228.2(SPOP):c.305T>G (p.Phe102Cys) rs193920894
NM_001007228.2(SPOP):c.399C>G (p.Phe133Leu) rs193921065
NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter) rs934287314
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001009894.3(C12orf29):c.*807_*808CT[1] rs569673313
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_001009994.2(RIPPLY2):c.299del (p.Leu100fs) rs864309489
NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr) rs146312522
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.457C>G (p.His153Asp) rs397516372
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382
NM_001018005.2(TPM1):c.712C>T (p.Arg238Trp) rs397516386
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001018005.2(TPM1):c.98A>C (p.Glu33Ala) rs886039444
NM_001018111.3(PODXL):c.89_90insGTCGCCCC (p.Gln32fs) rs1554391082
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401
NM_001029835.2(CCM2):c.701T>C (p.Leu234Pro)
NM_001029896.2(WDR45):c.158_160TGG[1] (p.Val54del) rs864309661
NM_001029896.2(WDR45):c.827+2dup
NM_001031681.2(CTNS):c.329+2T>C rs955833453
NM_001031681.2(CTNS):c.944A>G (p.Gln315Arg) rs1064795587
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102
NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.11570A>G (p.Tyr3857Cys) rs587782975
NM_001035.3(RYR2):c.12326T>C (p.Met4109Thr) rs1373714510
NM_001035.3(RYR2):c.12545A>C (p.Glu4182Ala) rs794728788
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr) rs876661386
NM_001035.3(RYR2):c.14173T>A (p.Tyr4725Asn) rs876661387
NM_001035.3(RYR2):c.14635C>A (p.Gln4879Lys) rs730880200
NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg) rs794728810
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu) rs730880187
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396
NM_001035.3(RYR2):c.4040T>G (p.Met1347Arg) rs193922625
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001035.3(RYR2):c.6829T>C (p.Cys2277Arg) rs794727676
NM_001035.3(RYR2):c.818C>T (p.Ser273Phe) rs794728715
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg) rs776206684
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_001040142.2(SCN2A):c.2657T>C (p.Leu886Ser) rs796053118
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001040142.2(SCN2A):c.4782G>C (p.Trp1594Cys) rs1057521747
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr) rs1057520687
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001040716.2(PC):c.2723C>T (p.Thr908Met) rs796052032
NM_001040716.2(PC):c.786G>T (p.Glu262Asp) rs200030109
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer) rs776569472
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001042537.1(SLC9A6):c.526-9_526-5del rs796053290
NM_001042723.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_001042723.2(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266
NM_001042723.2(RYR1):c.5628_5630GGA[2] (p.Glu1878del) rs371047178
NM_001048166.1(STIL):c.1229C>G (p.Pro410Arg) rs202194355
NM_001048171.1(MUTYH):c.267G>A (p.Trp89Ter) rs748170941
NM_001048171.1(MUTYH):c.534G>A (p.Lys178=) rs876660092
NM_001048171.1(MUTYH):c.658G>A (p.Val220Met) rs200165598
NM_001048171.1(MUTYH):c.694G>T (p.Val232Phe) rs587780749
NM_001048171.1(MUTYH):c.892-2A>G rs77542170
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_001069.3(TUBB2A):c.1171C>T (p.Arg391Cys) rs1554122907
NM_001072.4(UGT1A6):c.862-6073T>G rs35003977
NM_001077197.1(PDE11A):c.20_21del (p.Arg7fs) rs202117698
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896
NM_001079846.1(CREBBP):c.3386A>G (p.Tyr1129Cys) rs587783481
NM_001079846.1(CREBBP):c.4222C>T (p.Arg1408Cys) rs398124146
NM_001079846.1(CREBBP):c.4345C>T (p.His1449Tyr) rs1057519207
NM_001079846.1(CREBBP):c.5242C>T (p.Arg1748Cys) rs1555471394
NM_001079866.2(BCS1L):c.-49-539T>A rs386833855
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) rs369691608
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578
NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg) rs368486097
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788
NM_001079878.2(CNGA3):c.101+1G>A rs147118493
NM_001079878.2(CNGA3):c.1564G>A (p.Val522Ile) rs116448158
NM_001079878.2(CNGA3):c.628G>A (p.Glu210Lys) rs147415641
NM_001079878.2(CNGA3):c.757C>G (p.Pro253Ala) rs149802213
NM_001079878.2(CNGA3):c.913G>C (p.Ala305Pro) rs146195955
NM_001080442.2(SLC38A8):c.848A>C (p.Asp283Ala) rs139373929
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001080522.2(CC2D2A):c.3594+5G>A rs863225181
NM_001081.3(CUBN):c.348+2T>C rs146047781
NM_001081.3(CUBN):c.5909_5912TACC[1] (p.Thr1972fs) rs765301342
NM_001081.3(CUBN):c.6125-2A>G rs75386064
NM_001082486.1(ACD):c.137delG (p.Arg46Leufs) rs753666055
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912
NM_001083602.2(PTCH1):c.1305+3A>G rs878853846
NM_001083602.2(PTCH1):c.197-1G>A rs368869806
NM_001083602.2(PTCH1):c.2497A>G (p.Ile833Val) rs765371196
NM_001083602.2(PTCH1):c.3043G>A (p.Val1015Met) rs587778629
NM_001083602.2(PTCH1):c.3691C>T (p.Arg1231Trp) rs372027952
NM_001083602.2(PTCH1):c.3749A>G (p.Tyr1250Cys) rs147067171
NM_001083602.2(PTCH1):c.99C>T (p.Gly33=) rs772407797
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe) rs587784460
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser) rs1060499609
NM_001100.3(ACTA1):c.37G>A (p.Asp13Asn)
NM_001100.3(ACTA1):c.478G>A (p.Gly160Ser) rs1064794652
NM_001100.3(ACTA1):c.676G>C (p.Glu226Gln) rs1057521118
NM_001101.5(ACTB):c.82C>G (p.Arg28Gly) rs886041270
NM_001101362.2(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys)
NM_001102.4(ACTN1):c.1770C>A (p.Asn590Lys)
NM_001102.4(ACTN1):c.770C>G (p.Thr257Arg)
NM_001103.3(ACTN2):c.427A>G (p.Ile143Val) rs786205453
NM_001110219.3(GJB6):c.60_61delinsT (p.Lys22fs) rs397517206
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) rs1557175195
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=) rs797044732
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys) rs1064796761
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001114636.1(FANCL):c.1022_1024del (p.Ile341_Cys342delinsSer) rs747253294
NM_001114636.1(FANCL):c.1064_1065AG[1] (p.Ser356fs) rs750871999
NM_001123383.1(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_001126049.1(KLLN):c.-794_-783del rs587781340
NM_001126105.2(SLC7A7):c.1013G>A (p.Gly338Asp) rs386833795
NM_001126106.2(SLC7A7):c.475C>T (p.Arg159Cys) rs11568437
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606
NM_001126112.2(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_001126112.2(TP53):c.1101-1G>A rs876658982
NM_001126112.2(TP53):c.313G>C (p.Gly105Arg) rs1060501195
NM_001126112.2(TP53):c.314G>A (p.Gly105Asp) rs587781504
NM_001126112.2(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_001126112.2(TP53):c.358A>G (p.Lys120Glu) rs121912658
NM_001126112.2(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_001126112.2(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_001126112.2(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_001126112.2(TP53):c.376T>G (p.Tyr126Asp) rs886039483
NM_001126112.2(TP53):c.377A>G (p.Tyr126Cys) rs1555526335
NM_001126112.2(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_001126112.2(TP53):c.392A>T (p.Asn131Ile) rs1131691037
NM_001126112.2(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_001126112.2(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_001126112.2(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_001126112.2(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_001126112.2(TP53):c.396G>T (p.Lys132Asn) rs866775781
NM_001126112.2(TP53):c.403T>A (p.Cys135Ser) rs1057519975
NM_001126112.2(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_001126112.2(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_001126112.2(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_001126112.2(TP53):c.431A>C (p.Gln144Pro) rs786203071
NM_001126112.2(TP53):c.431A>T (p.Gln144Leu) rs786203071
NM_001126112.2(TP53):c.434T>A (p.Leu145Gln) rs587782197
NM_001126112.2(TP53):c.434T>C (p.Leu145Pro) rs587782197
NM_001126112.2(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_001126112.2(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_001126112.2(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_001126112.2(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_001126112.2(TP53):c.467G>A (p.Arg156His) rs371524413
NM_001126112.2(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_001126112.2(TP53):c.470T>A (p.Val157Asp) rs1131691023
NM_001126112.2(TP53):c.472C>T (p.Arg158Cys) rs587780068
NM_001126112.2(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_001126112.2(TP53):c.475G>C (p.Ala159Pro) rs730882000
NM_001126112.2(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_001126112.2(TP53):c.482C>A (p.Ala161Asp) rs1064795691
NM_001126112.2(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_001126112.2(TP53):c.503A>G (p.His168Arg) rs867114783
NM_001126112.2(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_001126112.2(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_001126112.2(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_001126112.2(TP53):c.524G>T (p.Arg175Leu) rs28934578
NM_001126112.2(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_001126112.2(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_001126112.2(TP53):c.530C>G (p.Pro177Arg) rs751477326
NM_001126112.2(TP53):c.535C>A (p.His179Asn) rs587780070
NM_001126112.2(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_001126112.2(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_001126112.2(TP53):c.541C>T (p.Arg181Cys) rs587782596
NM_001126112.2(TP53):c.578A>T (p.His193Leu) rs786201838
NM_001126112.2(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_001126112.2(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_001126112.2(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_001126112.2(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_001126112.2(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_001126112.2(TP53):c.587G>T (p.Arg196Leu) rs483352697
NM_001126112.2(TP53):c.590T>A (p.Val197Glu) rs1567551903
NM_001126112.2(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_001126112.2(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_001126112.2(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_001126112.2(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_001126112.2(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_001126112.2(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_001126112.2(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_001126112.2(TP53):c.646G>A (p.Val216Met) rs730882025
NM_001126112.2(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_001126112.2(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_001126112.2(TP53):c.695T>C (p.Ile232Thr) rs587781589
NM_001126112.2(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_001126112.2(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_001126112.2(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_001126112.2(TP53):c.709A>G (p.Met237Val) rs730882004
NM_001126112.2(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_001126112.2(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_001126112.2(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_001126112.2(TP53):c.716A>C (p.Asn239Thr) rs1057519999
NM_001126112.2(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_001126112.2(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_001126112.2(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_001126112.2(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_001126112.2(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_001126112.2(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_001126112.2(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_001126112.2(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_001126112.2(TP53):c.738G>A (p.Met246Ile) rs1019340046
NM_001126112.2(TP53):c.740A>T (p.Asn247Ile) rs786201762
NM_001126112.2(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_001126112.2(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_001126112.2(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_001126112.2(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_001126112.2(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_001126112.2(TP53):c.749C>T (p.Pro250Leu) rs1064794311
NM_001126112.2(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_001126112.2(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_001126112.2(TP53):c.766A>G (p.Thr256Ala) rs587781433
NM_001126112.2(TP53):c.770T>A (p.Leu257Gln) rs28934577
NM_001126112.2(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_001126112.2(TP53):c.796G>A (p.Gly266Arg) rs1057519990
NM_001126112.2(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_001126112.2(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_001126112.2(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_001126112.2(TP53):c.800G>C (p.Arg267Pro) rs587780075
NM_001126112.2(TP53):c.814G>A (p.Val272Met) rs121912657
NM_001126112.2(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_001126112.2(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_001126112.2(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_001126112.2(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_001126112.2(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_001126112.2(TP53):c.826G>C (p.Ala276Pro) rs1131691029
NM_001126112.2(TP53):c.829T>C (p.Cys277Arg) rs1064795369
NM_001126112.2(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_001126112.2(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_001126112.2(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_001126112.2(TP53):c.833C>A (p.Pro278His) rs876659802
NM_001126112.2(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_001126112.2(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_001126112.2(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_001126112.2(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_001126112.2(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_001126112.2(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_001126112.2(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_001126112.2(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_001126112.2(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_001126112.2(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_001126112.2(TP53):c.848G>A (p.Arg283His) rs371409680
NM_001126112.2(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_001126112.2(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127221.1(CACNA1A):c.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_001127221.1(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779
NM_001127221.1(CACNA1A):c.631+5G>A rs786200963
NM_001127221.1(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001127500.3(MET):c.2962C>T (p.Arg988Cys) rs34589476
NM_001127500.3(MET):c.3029C>T (p.Thr1010Ile) rs56391007
NM_001127500.3(MET):c.3742T>C (p.Tyr1248His) rs121913247
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001127644.2(GABRA1):c.851T>C (p.Val284Ala) rs794727962
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) rs769743354
NM_001127660.1(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_001127660.1(MFN2):c.825_827GCA[3] (p.Gln276dup) rs1553143791
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714
NM_001127713.1(ATL1):c.1024C>G (p.Pro342Ala) rs1555365509
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467
NM_001128177.2(THRB):c.994G>A (p.Gly332Arg) rs28999969
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627
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.158-2A>G rs587782066
NM_001128425.1(MUTYH):c.254A>G (p.His85Arg) rs558707786
NM_001128425.1(MUTYH):c.37-2A>G rs1383826978
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.820C>T (p.Arg274Trp) rs769237459
NM_001128425.1(MUTYH):c.890G>A (p.Cys297Tyr) rs879254257
NM_001128849.2(SMARCA4):c.2936G>A (p.Arg979Gln) rs797045981
NM_001128849.2(SMARCA4):c.3557C>T (p.Ala1186Val)
NM_001128849.2(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_001128849.2(SMARCA4):c.4309C>T (p.Arg1437Trp) rs1057518049
NM_001130089.1(KARS1):c.1577C>T (p.Ala526Val)
NM_001130144.2(LTBP3):c.1550C>T (p.Pro517Leu) rs145001056
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.1276+5G>A rs766433603
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu575_Leu576insVal) rs1446214240
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) rs886042878
NM_001130987.2(DYSF):c.2864+5G>A rs886044131
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His) rs762258343
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852
NM_001130987.2(DYSF):c.6173G>A (p.Arg2058Lys) rs886042452
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) rs141497053
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu) rs747880281
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.1913C>A (p.Pro638Gln) rs267607003
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr) rs1555483699
NM_001135599.3(TGFB2):c.989G>A (p.Arg330His) rs1553303213
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr)
NM_001142279.2(RNASEH2B):c.412C>T (p.Leu138Phe) rs78705382
NM_001142301.1(TMEM67):c.-62+714G>T rs797046045
NM_001142301.1(TMEM67):c.-8G>A rs375824494
NM_001142301.1(TMEM67):c.1076G>A (p.Arg359Gln) rs386834182
NM_001142301.1(TMEM67):c.1079G>T (p.Arg360Leu) rs386834183
NM_001142301.1(TMEM67):c.1457A>G (p.Tyr486Cys) rs148726767
NM_001142301.1(TMEM67):c.2079+2dup rs386834192
NM_001142301.1(TMEM67):c.2114G>A (p.Gly705Glu) rs386834193
NM_001142301.1(TMEM67):c.2605G>A (p.Val869Met) rs771551765
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.1459+5C>T rs200387978
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001145536.2(C17orf107):c.*272G>C rs370019023
NM_001145661.2(GATA2):c.857C>T (p.Ala286Val) rs797045592
NM_001145847.2(PROM1):c.577C>G (p.Arg193Gly) rs140872693
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys) rs180843436
NM_001148.6(ANK2):c.10858T>A (p.Trp3620Arg) rs199473346
NM_001148.6(ANK2):c.2474C>T (p.Thr825Ile) rs786205420
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met) rs142534126
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001148.6(ANK2):c.7255G>A (p.Glu2419Lys) rs752704424
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile) rs193922637
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431
NM_001160036.2(RHOBTB2):c.1528A>G (p.Asn510Asp) rs1554504678
NM_001160301.1(DPYD):c.187A>G (p.Lys63Glu) rs367619008
NM_001160301.1(DPYD):c.220C>T (p.Arg74Ter) rs189768576
NM_001163817.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001163817.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976
NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) rs186476316
NM_001164277.1(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889
NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu) rs773684291
NM_001165927.1(MKS1):c.1319T>C (p.Ile440Thr) rs200865108
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_001165927.1(MKS1):c.387G>A (p.Glu129=) rs386834048
NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys) rs779953982
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718
NM_001165927.1(MKS1):c.928G>A (p.Val310Ile) rs386834053
NM_001166107.1(HMGCS2):c.1373G>A (p.Arg458His) rs137852639
NM_001166107.1(HMGCS2):c.346C>T (p.Arg116Cys) rs200607527
NM_001168272.1(ITPR1):c.107G>A (p.Arg36His) rs1057518026
NM_001168272.1(ITPR1):c.731A>G (p.His244Arg) rs1085308010
NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile) rs1057517687
NM_001171.5(ABCC6):c.496C>T (p.Arg166Cys) rs201766106
NM_001171.5(ABCC6):c.742C>T (p.Leu248Phe) rs72653756
NM_001171814.1(OAT):c.-215-3019AG[2] rs386833600
NM_001172309.1(NEXN):c.1479_1481GGA[3] (p.Glu498del) rs397517848
NM_001172309.1(NEXN):c.1754_1756GAG[1] (p.Gly586del) rs397517853
NM_001172477.1(RRM2B):c.878A>G (p.Asn293Ser) rs863224193
NM_001172567.2(MYD88):c.779T>C (p.Leu260Pro) rs387907272
NM_001178010.2(CDC45):c.1756C>T (p.Arg586Trp) rs778665661
NM_001178098.2(CD19):c.1638del (p.Gly547fs) rs774006181
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu) rs780233639
NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys) rs747597620
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.697G>T (p.Asp233Tyr) rs1555985482
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter) rs764333096
NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp) rs1388811021
NM_001193304.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460
NM_001195794.1(CLRN1):c.118T>G (p.Cys40Gly) rs121908143
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_001195798.2(LDLR):c.1204_1206TTC[1] (p.Phe403del) rs879254830
NM_001195798.2(LDLR):c.168_170TGA[1] (p.Asp57del) rs879254421
NM_001195798.2(LDLR):c.2392_2394CTC[1] (p.Leu799del) rs879255195
NM_001195798.2(LDLR):c.2397_2405del (p.Val800_Leu802del) rs875989944
NM_001195798.2(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_001195799.2(LDLR):c.190+2368C>A rs879254444
NM_001195799.2(LDLR):c.190+2385_190+2393del rs879254451
NM_001195799.2(LDLR):c.190+2412G>A rs879254457
NM_001195799.2(LDLR):c.190+2420G>C rs750474121
NM_001195799.2(LDLR):c.191-2436G>T rs875989895
NM_001195800.2(LDLR):c.314-2007G>A rs879254541
NM_001195800.2(LDLR):c.314-2116C>T rs879254498
NM_001195800.2(LDLR):c.314-722A>C rs879254680
NM_001195800.2(LDLR):c.314-785G>A rs879254661
NM_001195803.2(LDLR):c.1606+190T>A rs879255118
NM_001195803.2(LDLR):c.1606+268G>T rs879255142
NM_001198536.1(MEFV):c.*280_*282del rs104895093
NM_001198536.1(MEFV):c.*90dup rs876660997
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906
NM_001199563.2(BVES):c.457C>T (p.Gln153Ter) rs1562137622
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) rs1057523275
NM_001205293.3(CACNA1E):c.4777A>G (p.Ile1593Val) rs1159957403
NM_001220.5(CAMK2B):c.903+1G>A rs1554385102
NM_001234.5(CAV3):c.100G>A (p.Glu34Lys) rs199476325
NM_001234.5(CAV3):c.134T>A (p.Ile45Asn) rs1553614409
NM_001234.5(CAV3):c.244G>A (p.Val82Ile) rs112626848
NM_001243766.1(POMGNT1):c.1869+27G>T rs386834024
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595
NM_001252335.2(CGNL1):c.2322T>C (p.His774=) rs483352760
NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter) rs200468440
NM_001256047.1(C19orf12):c.391A>G (p.Lys131Glu) rs146170087
NM_001256545.2(MEGF10):c.2857-2A>G rs199750143
NM_001256850.1(TTN):c.28091-2A>C rs6716782
NM_001256850.1(TTN):c.30895+1G>A rs794727043
NM_001256850.1(TTN):c.48958+5G>T rs753527304
NM_001256850.1(TTN):c.83086+5G>A rs148231754
NM_001257988.1(TYMP):c.1159+5G>A rs748559929
NM_001257988.1(TYMP):c.437G>A (p.Arg146His) rs188802138
NM_001267550.1(TTN):c.32471-1G>A rs371725574
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184
NM_001267550.2(TTN):c.104950del (p.Glu34984fs) rs727503533
NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter) rs886042795
NM_001267550.2(TTN):c.107223+1G>A rs876658102
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623
NM_001267550.2(TTN):c.107456_107459AGTC[3] (p.Gln35822fs) rs886042246
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154
NM_001267550.2(TTN):c.107840T>G (p.Ile35947Ser) rs281864928
NM_001267550.2(TTN):c.11183dup (p.Leu3729fs) rs778172350
NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter) rs869312102
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) rs727503658
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter) rs869312103
NM_001267550.2(TTN):c.22743_22744CT[1] (p.Ser7582fs) rs779549899
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983
NM_001267550.2(TTN):c.31763-1G>A rs202234172
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
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.41610del (p.Val13871fs) rs397517565
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) rs1553742630
NM_001267550.2(TTN):c.43544dup (p.Phe14516fs) rs752856716
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter) rs727504499
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter) rs770767998
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter) rs1060500405
NM_001267550.2(TTN):c.45535A>T (p.Lys15179Ter) rs1559877046
NM_001267550.2(TTN):c.47133_47134AG[2] (p.Ser15713fs) rs886039125
NM_001267550.2(TTN):c.4719_4723TGAAA[1] (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232
NM_001267550.2(TTN):c.48638+5G>T rs397517594
NM_001267550.2(TTN):c.50858-3C>T rs587782987
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585
NM_001267550.2(TTN):c.53287+1G>A rs1064794266
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter) rs768431507
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter) rs768073446
NM_001267550.2(TTN):c.59531_59570dup (p.Leu19857delinsPheSerTer) rs1064792914
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.64688del (p.Pro21563fs) rs774395395
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494
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.7469G>A (p.Arg2490His) rs148920986
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.8687C>T (p.Thr2896Ile) rs72647884
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His) rs750969198
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp) rs1131691515
NM_001271208.2(NEB):c.11341C>T (p.Arg3781Trp) rs533027587
NM_001271208.2(NEB):c.11581G>T (p.Ala3861Ser) rs750748717
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.2(NEB):c.2211+5G>T rs797045736
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.23232+2T>C rs112610938
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.24684G>A (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.5031+1G>A rs1553495140
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245
NM_001276345.2(TNNT2):c.451del (p.Arg151fs) rs730881115
NM_001276345.2(TNNT2):c.644G>C (p.Arg215Pro) rs121964860
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile) rs397516482
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001276345.2(TNNT2):c.866G>A (p.Gly289Glu) rs727505233
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) rs141121678
NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln) rs1178187217
NM_001278074.1(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874
NM_001278074.1(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_001278074.1(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_001278074.1(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_001278074.1(COL5A1):c.4765G>A (p.Ala1589Thr) rs377138881
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042
NM_001281463.1(SMC1A):c.1811G>A (p.Arg604His) rs587784407
NM_001281463.1(SMC1A):c.2012G>A (p.Arg671Gln) rs587784408
NM_001281463.1(SMC1A):c.3080G>A (p.Arg1027Gln) rs587784416
NM_001281492.1(MSH6):c.3092_3094CTG[1] (p.Ala1032del) rs63751427
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His) rs867543866
NM_001286044.1(ACADM):c.-100+1905AAG[2] rs875989857
NM_001286577.1(C2CD3):c.5227G>T (p.Gly1743Cys) rs1064793399
NM_001287174.2(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790
NM_001287174.2(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_001287174.2(ABCC8):c.2525G>A (p.Arg842Gln) rs547150342
NM_001287174.2(ABCC8):c.4181G>A (p.Arg1394His) rs769279368
NM_001287174.2(ABCC8):c.4594A>C (p.Thr1532Pro) rs796891223
NM_001287174.2(ABCC8):c.4618G>A (p.Val1540Met) rs193922408
NM_001289808.2(CRYAB):c.325-2A>G rs202024436
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile) rs397516686
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902
NM_001297.5(CNGB1):c.2893-7G>A rs749199721
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001301130.2(POLR2F):c.453-24294G>C rs533778281
NM_001301365.1(LYST):c.5719A>G (p.Ile1907Val)
NM_001301365.1(LYST):c.7780+2C>T rs760108842
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly) rs886037934
NM_001304718.2(PTEN):c.-541-5517C>G rs121909236
NM_001304718.2(PTEN):c.-612_-610ATT[1] rs1554893765
NM_001308211.1(EARS2):c.322C>T (p.Arg108Trp) rs376103091
NM_001308211.1(EARS2):c.667G>A (p.Asp223Asn) rs746087016
NM_001314077.1(PROS1):c.329C>T (p.Thr110Met) rs6122
NM_001314077.1(PROS1):c.380G>A (p.Gly127Glu) rs144526169
NM_001318836.2(BCS1L):c.-40-150G>A rs747956412
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001323289.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755
NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) rs199546979
NM_001330078.2(NRXN1):c.772+1032G>A rs771759988
NM_001330260.2(SCN8A):c.1250A>C (p.Gln417Pro) rs878854973
NM_001330260.2(SCN8A):c.1445A>G (p.Lys482Arg) rs769520392
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys) rs761386688
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu)
NM_001330260.2(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His) rs886044328
NM_001330260.2(SCN8A):c.5555C>T (p.Thr1852Ile) rs796053227
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.615-230T>C rs1057518487
NM_001330368.2(C11orf65):c.641-22822_641-22814del rs587776547
NM_001330368.2(C11orf65):c.641-24878ACA[2] rs876660743
NM_001330504.1(ALG1):c.494G>A (p.Arg165Gln) rs201975029
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg) rs797044525
NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His) rs1057519896
NM_001351834.2(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_001354630.1(MLH1):c.1732-895_1732-893del rs63750486
NM_001356.4(DDX3X):c.1226G>A (p.Gly409Asp) rs1057523822
NM_001360.2(DHCR7):c.1348del (p.Arg450fs) 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.438T>G (p.Asn146Lys) rs949177
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
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_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812
NM_001363734.1(ASXL1):c.1359_1360TG[1] (p.Val454fs) rs777537805
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)
NM_001365088.1(SLC12A6):c.1118+1G>A rs762730861
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) rs606231229
NM_001365276.2(TNXB):c.6074A>T (p.Asp2025Val) rs201397168
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp) rs202152511
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp) rs765848129
NM_001367624.1(ZNF469):c.2699C>T (p.Pro900Leu) rs273585618
NM_001367624.1(ZNF469):c.7831G>A (p.Glu2611Lys) rs281865151
NM_001367624.1(ZNF469):c.9919A>G (p.Thr3307Ala) rs273585627
NM_001369.2(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170
NM_001369.2(DNAH5):c.6791G>A (p.Ser2264Asn) rs78484669
NM_001369.2(DNAH5):c.7096C>T (p.Arg2366Trp) rs868151020
NM_001369.2(DNAH5):c.8387A>G (p.Asp2796Gly) rs727502974
NM_001369.2(DNAH5):c.962C>T (p.Ser321Leu) rs201077964
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys) rs746099217
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys) rs137877018
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn) rs200337373
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001370658.1(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001376.5(DYNC1H1):c.1195A>G (p.Arg399Gly)
NM_001376.5(DYNC1H1):c.1793G>T (p.Arg598Leu) rs879254085
NM_001376.5(DYNC1H1):c.1827C>G (p.Ile609Met) rs760971556
NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu) rs1327664377
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys) rs797045535
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709
NM_001377.3(DYNC2H1):c.5114T>C (p.Leu1705Pro) rs878854166
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu) rs1057521151
NM_001383.4(DPH1):c.374T>C (p.Leu125Pro) rs200530055
NM_001399.5(EDA):c.494G>C (p.Gly165Ala) rs1057521131
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe) rs121909338
NM_001458.4(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.4(FLNC):c.6031G>A (p.Gly2011Arg) rs1554400962
NM_001458.4(FLNC):c.7180G>C (p.Asp2394His) rs1554401561
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.512del (p.Lys171fs) rs1554614680
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) rs863225023
NM_001558.3(IL10RA):c.170A>G (p.Tyr57Cys) rs201643277
NM_001605.2(AARS1):c.259G>A (p.Asp87Asn) rs763757370
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.303+1G>A rs147936696
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.4(ACTA2):c.215C>T (p.Pro72Leu) rs1060500134
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val) rs397516683
NM_001613.4(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847
NM_001698.2(AUH):c.824C>T (p.Ala275Val) rs748318386
NM_001701.4(BAAT):c.761C>T (p.Thr254Met) rs768526453
NM_001743.6(CALM2):c.328A>T (p.Met110Leu) rs1553431711
NM_001743.6(CALM2):c.400G>A (p.Asp134Asn) rs398124650
NM_001744.6(CAMK4):c.981+1G>A rs1561515242
NM_001754.4(RUNX1):c.1408_1409GC[4] (p.Leu472fs) rs1555884790
NM_001754.4(RUNX1):c.259G>T (p.Gly87Cys) rs561166961
NM_001754.4(RUNX1):c.314A>C (p.His105Pro) rs1569084116
NM_001754.4(RUNX1):c.316T>A (p.Trp106Arg) rs1555899735
NM_001754.4(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.4(RUNX1):c.557T>A (p.Val186Asp) rs797045927
NM_001770.5(CD19):c.1303+1G>C rs372929312
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534
NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser) rs1555976973
NM_001830.4(CLCN4):c.2183C>T (p.Thr728Met) rs483352716
NM_001830.4(CLCN4):c.43G>A (p.Asp15Asn) rs879255591
NM_001844.5(COL2A1):c.1266+5G>A rs1064794958
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg) rs1565664095
NM_001845.6(COL4A1):c.2096G>A (p.Gly699Asp) rs1064795935
NM_001848.2(COL6A1):c.1425del (p.Gly476fs) 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.1945G>A (p.Glu649Lys) rs764129993
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_854del (p.Glu282_Gly284del) rs1556425474
NM_001849.3(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.3(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883
NM_001849.3(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501
NM_001849.3(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_001849.3(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
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.2593_2608dup (p.Asp870fs) rs863224243
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_001851.5(COL9A1):c.876+1G>C rs202232444
NM_001851.5(COL9A1):c.876+2T>A rs149830493
NM_001853.4(COL9A3):c.700C>T (p.Arg234Ter) rs1027769042
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs) rs1318756445
NM_001875.5(CPS1):c.4274+2T>C rs1374322297
NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu) rs1554085478
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn) rs763407972
NM_001918.4(DBT):c.1400G>A (p.Trp467Ter) rs767760099
NM_001918.4(DBT):c.401C>T (p.Pro134Leu) rs1131691488
NM_001918.4(DBT):c.827T>G (p.Phe276Cys) rs121964999
NM_001918.4(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001927.4(DES):c.1371+1G>A rs748323823
NM_001927.4(DES):c.1411T>C (p.Ter471Gln) rs886044329
NM_001927.4(DES):c.295C>G (p.Gln99Glu) rs794728992
NM_001927.4(DES):c.365A>G (p.Tyr122Cys) rs1400593451
NM_001927.4(DES):c.380G>C (p.Arg127Pro) rs397516694
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491
NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr) rs797044566
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) rs758537946
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357
NM_001943.5(DSG2):c.3055_3056AG[3] (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu) rs185821167
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726
NM_001958.4(EEF1A2):c.1267C>T (p.Arg423Cys) rs886039346
NM_001958.4(EEF1A2):c.1366_1374CAGAAGGCG[1] (p.456_458QKA[1]) rs879255373
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_002016.1(FLG):c.12064A>T (p.Lys4022Ter) rs146466242
NM_002016.1(FLG):c.2282_2285delCAGT rs558269137
NM_002016.1(FLG):c.2476C>T (p.Arg826Ter) rs115746363
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002052.5(GATA4):c.958C>T (p.Arg320Trp) rs1282433424
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser) rs1231842600
NM_002087.3(GRN):c.708+6_708+9del rs778599933
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys)
NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
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.2362C>T (p.Arg788Ter)
NM_002180.2(IGHMBP2):c.2611+1G>T rs786205090
NM_002180.2(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_002180.2(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_002180.2(IGHMBP2):c.958C>T (p.Arg320Ter) rs773690764
NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_002185.5(IL7R):c.662G>T (p.Ser221Ile) rs587778405
NM_002206.3(ITGA7):c.2357+1G>A rs200402328
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529
NM_002225.4(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266
NM_002230.4(JUP):c.773A>G (p.Glu258Gly) rs794729052
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074
NM_002241.5(KCNJ10):c.221C>T (p.Thr74Ile) rs796052604
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter) rs1057516045
NM_002312.3(LIG4):c.563G>A (p.Arg188Gln) rs748385144
NM_002334.4(LRP4):c.3557G>C (p.Trp1186Ser) rs387906883
NM_002386.3(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.3(MC1R):c.67C>T (p.Gln23Ter) rs201533137
NM_002420.6(TRPM1):c.3004A>T (p.Ile1002Phe) rs369484186
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002435.3(MPI):c.1A>G (p.Met1Val) rs528828174
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072
NM_002437.5(MPV17):c.268_270TTG[1] (p.Leu91del) rs267607264
NM_002437.5(MPV17):c.275A>C (p.Asp92Ala) rs1057524366
NM_002437.5(MPV17):c.376-9T>G rs368900406
NM_002470.4(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_002471.3(MYH6):c.4369G>A (p.Glu1457Lys) rs267606905
NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr) rs773998062
NM_002474.3(MYH11):c.3125G>A (p.Arg1042Gln) rs771297865
NM_002474.3(MYH11):c.3757_3759AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324
NM_002474.3(MYH11):c.5787-4707del rs747392139
NM_002485.4(NBN):c.1911_1914+1del rs1554556880
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_002485.4(NBN):c.2T>C (p.Met1Thr) rs746422391
NM_002485.4(NBN):c.37+2dup rs876658183
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) rs748754134
NM_002499.4(NEO1):c.2935C>G (p.Pro979Ala) rs483352721
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) rs146347092
NM_002529.3(NTRK1):c.2281C>T (p.Arg761Trp) rs759637817
NM_002529.3(NTRK1):c.253C>A (p.Arg85Ser) rs543320028
NM_002529.3(NTRK1):c.354_359+3del
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.1198G>A (p.Val400Met)
NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
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.2573C>T (p.Thr858Ile) rs759128787
NM_002693.2(POLG):c.2591A>T (p.Asn864Ile)
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.2857C>T (p.Arg953Cys) rs11546842
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3151G>A (p.Gly1051Arg) rs121918049
NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.2(POLG):c.3242G>A (p.Arg1081Gln) rs140079523
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002693.2(POLG):c.3383G>A (p.Arg1128His) rs1405268319
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.3614G>C (p.Gly1205Ala) rs772737979
NM_002693.2(POLG):c.488C>T (p.Pro163Leu) rs752892262
NM_002693.2(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.2(POLG):c.855G>C (p.Gln285His) rs141367015
NM_002715.4(PPP2CA):c.640C>T (p.Arg214Ter) rs148071386
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)
NM_002755.3(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.3(MAP2K1):c.608A>G rs727503996
NM_002834.4(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.4(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.4(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.4(PTPN11):c.782T>G (p.Leu261Arg) rs765642157
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.827A>G (p.Lys276Arg) rs777603059
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter) rs1462559161
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser) rs774047299
NM_002878.3(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_002878.3(RAD51D):c.1A>T (p.Met1Leu) rs561425038
NM_002878.3(RAD51D):c.2T>C (p.Met1Thr) rs1064794619
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_002937.5(RNASE4):c.-17-5730C>T
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_002977.3(SCN9A):c.1314+1G>T rs1295192882
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_003002.4(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys) rs202198133
NM_003002.4(SDHD):c.275A>T (p.Asp92Val) rs786205436
NM_003002.4(SDHD):c.304C>A (p.His102Asn) rs786202403
NM_003002.4(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601
NM_003036.4(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003042.4(SLC6A1):c.1000G>A (p.Ala334Thr)
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003060.4(SLC22A5):c.1052+5G>A rs927950152
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652
NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp) rs747821417
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val) rs145068530
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.842C>T (p.Pro281Leu) rs1064793269
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_003119.4(SPG7):c.1586C>T (p.Ala529Val) rs748600162
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094
NM_003122.4(SPINK1):c.1A>T (p.Met1Leu) rs369163833
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522
NM_003156.3(STIM1):c.1588C>T (p.Arg530Cys) rs142239530
NM_003165.4(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_003165.4(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_003165.4(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup) rs782488388
NM_003239.4(TGFB3):c.442C>T (p.Arg148Ter) rs1057523647
NM_003239.4(TGFB3):c.886_893dup (p.Lys298fs) rs1555360368
NM_003239.4(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003280.3(TNNC1):c.161C>A (p.Pro54His) rs876661393
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125
NM_003280.3(TNNC1):c.262G>A (p.Asp88Asn) rs730881058
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) rs267607124
NM_003283.6(TNNT1):c.32+5G>A rs1555859876
NM_003322.6(TULP1):c.1496-6C>A rs281865171
NM_003361.3(UMOD):c.317G>T (p.Cys106Phe) rs398123697
NM_003373.4(VCL):c.1713del (p.Ala573fs) rs779488376
NM_003373.4(VCL):c.2746-2193_2746-2192del rs781036800
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615
NM_003467.2(CXCR4):c.1003G>A (p.Gly335Ser) rs147214773
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln) rs193922667
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met) rs142019584
NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.3(KMT2D):c.15230T>C (p.Leu5077Pro) rs398123726
NM_003482.3(KMT2D):c.16480_16482ATC[3] (p.Ile5497del) rs587783704
NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.3(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) rs1057524031
NM_003491.4(NAA10):c.440T>C (p.Met147Thr) rs1057518605
NM_003494.3(DYSF):c.5078G>A rs779987458
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037
NM_003560.4(PLA2G6):c.2277-2A>C rs552606315
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113