ClinVar Miner

List of variants reported as likely pathogenic by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1965
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HGVS dbSNP
NC_000004.11:g.15589466_15589468delGAA rs794729225
NM_000038.6(APC):c.1312+3A>C rs863225311
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.135+1G>T rs750508765
NM_000038.6(APC):c.136-1G>A rs1554069481
NM_000038.6(APC):c.1409-3T>G rs1554081629
NM_000038.6(APC):c.1626+2T>G rs876658858
NM_000038.6(APC):c.1743+1G>T rs761458613
NM_000038.6(APC):c.1743G>C (p.Lys581Asn) rs1114167592
NM_000038.6(APC):c.1902T>G (p.Ser634Arg) rs876659460
NM_000038.6(APC):c.1958G>A (p.Arg653Lys) rs1060503318
NM_000038.6(APC):c.1959-2A>G rs876658214
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.221-1G>A rs863225327
NM_000038.6(APC):c.221-1G>C rs863225327
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.6(APC):c.3083G>A (p.Ser1028Asn) rs1114167617
NM_000038.6(APC):c.3084T>A (p.Ser1028Arg) rs876660265
NM_000038.6(APC):c.422+2T>G rs879254169
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+2T>A rs863225365
NM_000038.6(APC):c.531+3A>C rs1114167550
NM_000038.6(APC):c.531+5G>C rs587779798
NM_000038.6(APC):c.6281del (p.Pro2094fs) rs876660816
NM_000038.6(APC):c.645+2T>G rs786202351
NM_000038.6(APC):c.7692dup (p.Arg2565fs) rs1554088600
NM_000038.6(APC):c.834G>A (p.Gln278=) rs1060503261
NM_000038.6(APC):c.8514C>A (p.Tyr2838Ter) rs876660375
NM_000038.6(APC):c.8514C>G (p.Tyr2838Ter) rs876660375
NM_000038.6(APC):c.933+2T>C rs1057517559
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.1066-1G>A rs876660038
NM_000051.3(ATM):c.1547T>C (p.Leu516Ser) rs786202195
NM_000051.3(ATM):c.186-1G>A rs1259911051
NM_000051.3(ATM):c.2250+2T>C rs1555075037
NM_000051.3(ATM):c.2251-1G>C rs876659710
NM_000051.3(ATM):c.2376+1G>C rs730881347
NM_000051.3(ATM):c.2377-2A>G rs1057516553
NM_000051.3(ATM):c.2638+1delG rs1131691153
NM_000051.3(ATM):c.2638+2T>C rs587779826
NM_000051.3(ATM):c.2639-384A>G rs1131691154
NM_000051.3(ATM):c.2838+1G>T rs1555083469
NM_000051.3(ATM):c.2839-2A>G rs1060501703
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.3(ATM):c.2921+1G>C rs587781558
NM_000051.3(ATM):c.3284+1G>A rs864622129
NM_000051.3(ATM):c.3284G>A (p.Arg1095Lys) rs587781815
NM_000051.3(ATM):c.332-1G>A rs747855862
NM_000051.3(ATM):c.3402+2T>C rs876659430
NM_000051.3(ATM):c.3403-1G>A rs1555091120
NM_000051.3(ATM):c.3576+1G>A rs876660621
NM_000051.3(ATM):c.3576+1G>T rs876660621
NM_000051.3(ATM):c.3747-1G>C rs730881364
NM_000051.3(ATM):c.3848T>C (p.Leu1283Pro) rs730881389
NM_000051.3(ATM):c.3994-1G>T rs1057516238
NM_000051.3(ATM):c.4236+1G>T rs876660674
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_000051.3(ATM):c.4436+2T>C rs1555097898
NM_000051.3(ATM):c.496+1G>A rs876658500
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.5319+1G>A rs876660175
NM_000051.3(ATM):c.5319+2T>C rs1555105842
NM_000051.3(ATM):c.5497-1G>A rs876660245
NM_000051.3(ATM):c.5497-2A>G rs786203796
NM_000051.3(ATM):c.5762+1G>A rs869312756
NM_000051.3(ATM):c.5762+1G>T rs869312756
NM_000051.3(ATM):c.5763-2A>C rs876659489
NM_000051.3(ATM):c.5763-2A>G rs876659489
NM_000051.3(ATM):c.5858C>T (p.Thr1953Ile) rs587781963
NM_000051.3(ATM):c.5919-2A>G rs746623393
NM_000051.3(ATM):c.6006+1G>A rs786202016
NM_000051.3(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.3(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415
NM_000051.3(ATM):c.6095+1G>A rs587781584
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.3(ATM):c.6572+1G>A rs587779856
NM_000051.3(ATM):c.6976-2A>C rs587782403
NM_000051.3(ATM):c.6976-2A>G rs587782403
NM_000051.3(ATM):c.7089+1G>A rs777741666
NM_000051.3(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.3(ATM):c.73-1G>A rs1555054043
NM_000051.3(ATM):c.73-3C>G rs1555054039
NM_000051.3(ATM):c.7308-1G>C rs1555122941
NM_000051.3(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.3(ATM):c.7570G>C (p.Ala2524Pro) rs769142993
NM_000051.3(ATM):c.7629+2T>C rs786203059
NM_000051.3(ATM):c.7630-2A>G rs587779866
NM_000051.3(ATM):c.7789-3T>G rs864622185
NM_000051.3(ATM):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.3(ATM):c.7928-1G>A rs1555126163
NM_000051.3(ATM):c.7983_7985TGT[2] (p.Val2664del) rs876660743
NM_000051.3(ATM):c.8010+1delG rs876659350
NM_000051.3(ATM):c.8011-1G>C rs1555127017
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8146G>T (p.Val2716Phe) rs730881385
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.3(ATM):c.8152-1G>A rs1398616877
NM_000051.3(ATM):c.8268+1G>T rs876658957
NM_000051.3(ATM):c.8418+2T>C rs1060501713
NM_000051.3(ATM):c.8495G>C (p.Arg2832Pro) rs529296539
NM_000051.3(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.3(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.3(ATM):c.8584+1G>A rs876658182
NM_000051.3(ATM):c.8584+2T>C rs730881326
NM_000051.3(ATM):c.8585-1G>A rs876660066
NM_000051.3(ATM):c.8672-1G>T rs876660088
NM_000051.3(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.3(ATM):c.8737G>T (p.Asp2913Tyr) rs756899044
NM_000051.3(ATM):c.875C>T (p.Pro292Leu) rs747727055
NM_000051.3(ATM):c.8850+1G>A rs1555143620
NM_000051.3(ATM):c.8850+2T>C rs1555143623
NM_000051.3(ATM):c.8988-1G>A rs730881386
NM_000051.3(ATM):c.8988-2A>G rs786202087
NM_000051.3(ATM):c.9023G>A (p.Arg3008His) rs587781894
NM_000054.6(AVPR2):c.382_384del (p.Tyr128del) rs1557100594
NM_000054.6(AVPR2):c.857C>T (p.Pro286Leu) rs1557100917
NM_000057.4(BLM):c.3558+1G>T rs148969222
NM_000059.3(BRCA2):c.1909+1G>A rs587781629
NM_000059.3(BRCA2):c.1909+2T>A rs876658577
NM_000059.3(BRCA2):c.316+1G>T rs397507303
NM_000059.3(BRCA2):c.425+1G>A rs587782590
NM_000059.3(BRCA2):c.425G>A (p.Ser142Asn) rs397507713
NM_000059.3(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.3(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.3(BRCA2):c.476-4_476-1delCCAGinsT rs587782880
NM_000059.3(BRCA2):c.517-2A>G rs81002858
NM_000059.3(BRCA2):c.631G>C (p.Val211Leu) rs80358871
NM_000059.3(BRCA2):c.632-1G>T rs81002820
NM_000059.3(BRCA2):c.632-2A>C rs397507842
NM_000059.3(BRCA2):c.68-1G>A rs1060502376
NM_000059.3(BRCA2):c.68-2A>G rs769152395
NM_000059.3(BRCA2):c.681+2dupT rs587781486
NM_000059.3(BRCA2):c.682-1G>C rs81002831
NM_000059.3(BRCA2):c.6938-2A>G rs81002863
NM_000059.3(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.3(BRCA2):c.7435+2T>C rs1434072252
NM_000059.3(BRCA2):c.7436-2_7437delAGAT rs876659229
NM_000059.3(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.3(BRCA2):c.7618-2A>G rs886040940
NM_000059.3(BRCA2):c.7805+1G>A rs81002809
NM_000059.3(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.3(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.3(BRCA2):c.793+1G>A rs81002846
NM_000059.3(BRCA2):c.793+1G>C rs81002846
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.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.3(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
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.8165C>A (p.Thr2722Lys) rs80359062
NM_000059.3(BRCA2):c.8167G>A (p.Asp2723Asn) rs41293511
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.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.8331+1G>A rs81002837
NM_000059.3(BRCA2):c.8331+2T>G rs398122602
NM_000059.3(BRCA2):c.8332-2A>G rs587782774
NM_000059.3(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075
NM_000059.3(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.3(BRCA2):c.8487+3A>G rs81002806
NM_000059.3(BRCA2):c.8488-1_8496del10insCT rs1555287731
NM_000059.3(BRCA2):c.8754+1G>T rs397508006
NM_000059.3(BRCA2):c.8754+3G>C rs397508007
NM_000059.3(BRCA2):c.8754+4A>T rs81002893
NM_000059.3(BRCA2):c.8754+5G>A rs81002813
NM_000059.3(BRCA2):c.8754G>A (p.Glu2918=) rs80359803
NM_000059.3(BRCA2):c.8755-1G>C rs81002812
NM_000059.3(BRCA2):c.8948_8953+5delATTCAGGTAAG rs276174915
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.9117+1delG rs869320801
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.9257-1G>A rs81002889
NM_000059.3(BRCA2):c.9257-2A>G rs886040954
NM_000059.3(BRCA2):c.9502-2A>C rs81002868
NM_000059.3(BRCA2):c.9561T>A (p.Asn3187Lys) rs587782612
NM_000059.3(BRCA2):c.9649-1G>C rs1555289898
NM_000077.4(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548
NM_000077.4(CDKN2A):c.149A>C (p.Gln50Pro) rs587778189
NM_000077.4(CDKN2A):c.151-2A>G rs1554654224
NM_000077.4(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.4(CDKN2A):c.179C>A (p.Ala60Glu) rs36204594
NM_000077.4(CDKN2A):c.202_203delinsTT (p.Ala68Leu) rs876658534
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.212del (p.Asn71fs) rs876658220
NM_000077.4(CDKN2A):c.249C>A (p.His83Gln) rs34968276
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.322G>T (p.Asp108Tyr) rs121913381
NM_000077.4(CDKN2A):c.334C>G (p.Arg112Gly) rs876660436
NM_000077.4(CDKN2A):c.341C>T (p.Pro114Leu) rs121913386
NM_000077.4(CDKN2A):c.67G>A (p.Gly23Ser) rs1131691186
NM_000077.4(CDKN2A):c.67G>T (p.Gly23Cys) rs1131691186
NM_000077.4(CDKN2A):c.95T>C (p.Leu32Pro) rs878853650
NM_000088.3(COL1A1):c.388G>T (p.Gly130Cys) rs1555575085
NM_000089.3(COL1A2):c.1576G>A (p.Gly526Arg) rs72658129
NM_000089.3(COL1A2):c.596G>A (p.Gly199Asp) rs1554395833
NM_000090.3(COL3A1):c.1421G>T (p.Gly474Val) rs1553507991
NM_000090.3(COL3A1):c.1761+5G>A (p.Gly555_Asp587del) rs397509372
NM_000090.3(COL3A1):c.1762G>A (p.Gly588Ser) rs1553508338
NM_000090.3(COL3A1):c.2069G>A (p.Gly690Glu) rs587779458
NM_000090.3(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.3(COL3A1):c.3229G>A (p.Gly1077Ser) rs886038892
NM_000090.3(COL3A1):c.898-2A>G rs1553507574
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000093.4(COL5A1):c.5165dup (p.Val1723fs) rs1554726251
NM_000093.4(COL5A1):c.655-1G>C rs1554787526
NM_000096.4(CP):c.583G>A (p.Gly195Arg) rs750451693
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000132.3(F8):c.7031G>A (p.Gly2344Asp) rs1557271042
NM_000133.3(F9):c.1115T>C (p.Leu372Pro) rs1556008584
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_000138.4(FBN1):c.1129T>C (p.Cys377Arg) rs886039066
NM_000138.4(FBN1):c.1147G>A (p.Glu383Lys) rs794728325
NM_000138.4(FBN1):c.202T>A (p.Cys68Ser) rs113604459
NM_000138.4(FBN1):c.2050T>C (p.Cys684Arg) rs1555399764
NM_000138.4(FBN1):c.2201G>A (p.Cys734Tyr) rs794728187
NM_000138.4(FBN1):c.2287T>C (p.Cys763Arg) rs1555399361
NM_000138.4(FBN1):c.2419+1G>A rs1555399257
NM_000138.4(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.4(FBN1):c.2639G>A (p.Gly880Asp) rs886038953
NM_000138.4(FBN1):c.2673A>G (p.Gln891=) rs1555399143
NM_000138.4(FBN1):c.2728+2T>C rs886038898
NM_000138.4(FBN1):c.2740T>G (p.Cys914Gly) rs1555398994
NM_000138.4(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.4(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.4(FBN1):c.3125G>A (p.Gly1042Asp) rs1555398680
NM_000138.4(FBN1):c.3344A>G (p.Asp1115Gly) rs794728203
NM_000138.4(FBN1):c.3457T>C (p.Cys1153Arg) rs886038877
NM_000138.4(FBN1):c.3584G>A (p.Cys1195Tyr) rs886038802
NM_000138.4(FBN1):c.3963A>G (p.Thr1321=) rs140648
NM_000138.4(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
NM_000138.4(FBN1):c.4367G>A (p.Cys1456Tyr) rs397515805
NM_000138.4(FBN1):c.448T>C (p.Cys150Arg) rs1555404819
NM_000138.4(FBN1):c.4577G>A (p.Cys1526Tyr) rs886039120
NM_000138.4(FBN1):c.4589G>C (p.Arg1530Pro) rs778710767
NM_000138.4(FBN1):c.496T>A (p.Cys166Ser) rs363852
NM_000138.4(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.4(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
NM_000138.4(FBN1):c.5371T>C (p.Cys1791Arg) rs1555396427
NM_000138.4(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.4(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.4(FBN1):c.5683T>C (p.Cys1895Arg) rs878853686
NM_000138.4(FBN1):c.5698T>A (p.Cys1900Ser) rs1555395840
NM_000138.4(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.4(FBN1):c.5951G>A (p.Cys1984Tyr) rs1555395658
NM_000138.4(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.4(FBN1):c.5967T>G (p.Cys1989Trp) rs1555395652
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6410G>C (p.Cys2137Ser) rs1555395206
NM_000138.4(FBN1):c.6430A>C (p.Asn2144His) rs886038943
NM_000138.4(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.4(FBN1):c.6628T>C (p.Cys2210Arg) rs794728253
NM_000138.4(FBN1):c.6689G>A (p.Cys2230Tyr) rs1555394904
NM_000138.4(FBN1):c.6694T>C (p.Cys2232Arg) rs869025411
NM_000138.4(FBN1):c.6751T>A (p.Cys2251Ser) rs112836174
NM_000138.4(FBN1):c.6773G>A (p.Cys2258Tyr) rs886039047
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.6904T>A (p.Cys2302Ser) rs886039092
NM_000138.4(FBN1):c.7363T>C (p.Cys2455Arg) rs886038930
NM_000138.4(FBN1):c.7403G>A (p.Cys2468Tyr) rs1555394400
NM_000138.4(FBN1):c.7649G>C (p.Cys2550Ser) rs1555394196
NM_000138.4(FBN1):c.7708G>A (p.Glu2570Lys) rs886038786
NM_000138.4(FBN1):c.7742G>T (p.Cys2581Phe) rs1555394149
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.4(FBN1):c.8003G>A (p.Gly2668Asp) rs1555393837
NM_000138.4(FBN1):c.8005G>T (p.Gly2669Cys) rs794728281
NM_000138.4(FBN1):c.8006G>T (p.Gly2669Val) rs886038869
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000141.4(FGFR2):c.940-165_978del204 rs1554928978
NM_000143.3(FH):c.1000A>C (p.Ser334Arg) rs587782216
NM_000143.3(FH):c.1007T>G (p.Met336Arg) rs863223972
NM_000143.3(FH):c.1020T>A (p.Asn340Lys) rs398123159
NM_000143.3(FH):c.1023T>G (p.Asp341Glu) rs863223973
NM_000143.3(FH):c.1093A>G (p.Ser365Gly) rs863223966
NM_000143.3(FH):c.1094G>A (p.Ser365Asn) rs1131691238
NM_000143.3(FH):c.1120C>A (p.Pro374Thr) rs876660446
NM_000143.3(FH):c.1144A>G (p.Met382Val) rs886039365
NM_000143.3(FH):c.1157A>G (p.Gln386Arg) rs750447792
NM_000143.3(FH):c.1255T>C (p.Ser419Pro) rs200004220
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.1339A>T (p.Lys447Ter) rs863223977
NM_000143.3(FH):c.1391-2A>T rs863224008
NM_000143.3(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.3(FH):c.1439C>G (p.Ser480Ter) rs1131691245
NM_000143.3(FH):c.1500G>A (p.Trp500Ter) rs886039368
NM_000143.3(FH):c.378+2T>C rs1131691241
NM_000143.3(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.3(FH):c.539A>G (p.His180Arg) rs863224015
NM_000143.3(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.3(FH):c.557G>A (p.Ser186Asn) rs587782618
NM_000143.3(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.3(FH):c.578_583del (p.Thr193_Ala194del) rs1060499635
NM_000143.3(FH):c.591_593TGC[2] (p.Ala200del) rs786202907
NM_000143.3(FH):c.786_806del (p.Lys263_Ile269del) rs786202220
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.905-1G>C rs797044973
NM_000143.3(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.3(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000144.5(FXN):c.9_10TC[1] (p.Leu4fs) rs143232208
NM_000156.6(GAMT):c.59G>T (p.Trp20Leu)
NM_000158.4(GBE1):c.1064G>A (p.Arg355His) rs869312919
NM_000161.3(GCH1):c.343G>A (p.Asp115Asn) rs1393095176
NM_000162.5(GCK):c.1324G>A (p.Glu442Lys) rs758737171
NM_000165.5(GJA1):c.113G>C (p.Gly38Ala) rs1554200990
NM_000169.2(GLA):c.667T>C (p.Cys223Arg) rs869312381
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.1304T>C (p.Leu435Pro) rs63751405
NM_000179.2(MSH6):c.1621A>C (p.Ser541Arg) rs587779778
NM_000179.2(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.2(MSH6):c.2302_2304del (p.Pro768del) rs63750647
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.260+1G>C rs1553408467
NM_000179.2(MSH6):c.260+2_260+3delTAinsAG rs1064794075
NM_000179.2(MSH6):c.260G>C (p.Ser87Thr) rs1114167734
NM_000179.2(MSH6):c.261-1G>C rs863225402
NM_000179.2(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.2(MSH6):c.2926C>T (p.Arg976Cys) rs587782386
NM_000179.2(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.2(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.2(MSH6):c.3173-1G>A rs397515875
NM_000179.2(MSH6):c.3173-1_3173delGA rs587779256
NM_000179.2(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.2(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3356_3358delinsGAT (p.Glu1119_Glu1120delinsGlyTer) rs1114167695
NM_000179.2(MSH6):c.3400G>C (p.Gly1134Arg) rs1114167697
NM_000179.2(MSH6):c.3416G>T (p.Gly1139Val) rs1316409501
NM_000179.2(MSH6):c.3417C>T (p.Gly1139=) rs876660283
NM_000179.2(MSH6):c.3439-2A>T rs267608098
NM_000179.2(MSH6):c.3452C>A (p.Ala1151Asp) rs587782625
NM_000179.2(MSH6):c.3482_3484CTG[1] (p.Ala1162del) rs63751427
NM_000179.2(MSH6):c.3556+1delG rs1064793489
NM_000179.2(MSH6):c.3557-1G>C rs1114167723
NM_000179.2(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000179.2(MSH6):c.3601C>G (p.Leu1201Val) rs182024561
NM_000179.2(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.2(MSH6):c.3646+2T>C rs1553332776
NM_000179.2(MSH6):c.3656C>T (p.Thr1219Ile) rs63750949
NM_000179.2(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup) rs63750523
NM_000179.2(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285
NM_000179.2(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.3801+1G>T rs876660943
NM_000179.2(MSH6):c.3802-7_3802-4delTCTT rs876661171
NM_000179.2(MSH6):c.3935_3954dup (p.Lys1319fs) rs1553333644
NM_000179.2(MSH6):c.4001+1G>C rs1114167729
NM_000179.2(MSH6):c.4001G>C (p.Arg1334Pro) rs267608122
NM_000179.2(MSH6):c.4002-1G>A rs1302369946
NM_000179.2(MSH6):c.628-2A>G rs1114167725
NM_000194.3(HPRT1):c.148G>C (p.Ala50Pro) rs1556026984
NM_000197.2(HSD17B3):c.278-1G>C rs149607031
NM_000218.2(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.2(KCNQ1):c.1031C>A (p.Ala344Glu) rs199472763
NM_000218.2(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.2(KCNQ1):c.1559T>G (p.Met520Arg) rs199473479
NM_000218.2(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.2(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.2(KCNQ1):c.1664G>A (p.Arg555His) rs199472800
NM_000218.2(KCNQ1):c.1669A>G (p.Lys557Glu) rs199472801
NM_000218.2(KCNQ1):c.1686-2A>G rs878854350
NM_000218.2(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.2(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.2(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.2(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.2(KCNQ1):c.568C>T (p.Arg190Trp) rs199473662
NM_000218.2(KCNQ1):c.692G>T (p.Arg231Leu) rs199472709
NM_000218.2(KCNQ1):c.760G>T (p.Val254Leu) rs120074179
NM_000218.2(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.2(KCNQ1):c.902A>T (p.Asp301Val) rs1554893260
NM_000218.2(KCNQ1):c.905C>T (p.Ala302Val) rs193922365
NM_000218.2(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000223.4(KRT12):c.385A>G (p.Met129Val) rs267607387
NM_000238.3(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.3(KCNH2):c.1280A>C (p.Tyr427Ser) rs199472897
NM_000238.3(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_000238.3(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.3(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_000238.3(KCNH2):c.1894C>T (p.Pro632Ser) rs199473527
NM_000238.3(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.3(KCNH2):c.212G>A (p.Gly71Glu) rs886039183
NM_000238.3(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990
NM_000238.3(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.3(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538
NM_000238.3(KCNH2):c.3125T>C (p.Leu1042Pro) rs886039064
NM_000244.3(MEN1):c.1028T>C (p.Leu343Pro) rs1114167480
NM_000244.3(MEN1):c.1064+1G>C rs1114167489
NM_000244.3(MEN1):c.1079G>A (p.Arg360Gln) rs1114167474
NM_000244.3(MEN1):c.1117G>A (p.Ala373Thr) rs1114167473
NM_000244.3(MEN1):c.1117G>C (p.Ala373Pro) rs1114167473
NM_000244.3(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_000244.3(MEN1):c.1142T>C (p.Leu381Pro) rs1114167471
NM_000244.3(MEN1):c.1273A>T (p.Ile425Phe) rs1114167526
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
NM_000244.3(MEN1):c.1296T>A (p.Ser432Arg) rs1114167528
NM_000244.3(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_000244.3(MEN1):c.1679G>A (p.Ser560Asn) rs863224527
NM_000244.3(MEN1):c.1684A>G (p.Lys562Glu) rs1114167517
NM_000244.3(MEN1):c.1723_1743del (p.Ile575_Lys581del) rs1555163115
NM_000244.3(MEN1):c.1740del (p.Lys581fs) rs1555163124
NM_000244.3(MEN1):c.1745T>C (p.Leu582Pro) rs794728634
NM_000244.3(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_000244.3(MEN1):c.461-2A>G rs886042035
NM_000244.3(MEN1):c.529G>T (p.Asp177Tyr) rs1114167494
NM_000244.3(MEN1):c.530A>T (p.Asp177Val) rs794728618
NM_000244.3(MEN1):c.541G>C (p.Ala181Pro) rs376872829
NM_000244.3(MEN1):c.683T>C (p.Leu228Pro) rs886039415
NM_000244.3(MEN1):c.718G>A (p.Glu240Lys) rs1114167488
NM_000244.3(MEN1):c.737G>A (p.Cys246Tyr) rs794728624
NM_000244.3(MEN1):c.803T>C (p.Leu268Pro) rs1114167502
NM_000244.3(MEN1):c.839+1G>C rs1060499976
NM_000244.3(MEN1):c.840-1G>A rs1114167505
NM_000244.3(MEN1):c.845C>A (p.Pro282His) rs1060499973
NM_000244.3(MEN1):c.856G>A (p.Gly286Arg) rs1114167493
NM_000244.3(MEN1):c.928-2A>G rs1114167498
NM_000244.3(MEN1):c.937T>C (p.Ser313Pro) rs1064793169
NM_000244.3(MEN1):c.965A>G (p.His322Arg) rs1114167495
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.122A>T (p.Asp41Val) rs63751094
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1588_1590del (p.Phe530del) rs587778930
NM_000249.3(MLH1):c.1649T>C (p.Leu550Pro) rs63750193
NM_000249.3(MLH1):c.1667+1delG rs1553658246
NM_000249.3(MLH1):c.1667G>C (p.Ser556Thr) rs63751596
NM_000249.3(MLH1):c.1832_1834TTG[1] (p.Val612del) rs63750486
NM_000249.3(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.3(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.3(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.3(MLH1):c.1943C>G (p.Pro648Arg) rs63750610
NM_000249.3(MLH1):c.194G>A (p.Gly65Asp) rs63751465
NM_000249.3(MLH1):c.1989+2T>C rs1553664119
NM_000249.3(MLH1):c.2041G>C (p.Ala681Pro) rs63750217
NM_000249.3(MLH1):c.2048_2050del (p.Phe683del) rs1553664506
NM_000249.3(MLH1):c.208-3C>G rs267607720
NM_000249.3(MLH1):c.2103+3A>G rs587778976
NM_000249.3(MLH1):c.2162del (p.Tyr721fs) rs786202767
NM_000249.3(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000249.3(MLH1):c.2236dup (p.Leu746fs) rs1553665977
NM_000249.3(MLH1):c.2246_2247TA[1] (p.Tyr750fs) rs786202326
NM_000249.3(MLH1):c.242_244CTA[1] (p.Thr82del) rs786202328
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.3(MLH1):c.302G>A (p.Gly101Asp) rs267607727
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.305A>C (p.Glu102Ala) rs1553640334
NM_000249.3(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.3(MLH1):c.380G>A (p.Arg127Lys) rs63751595
NM_000249.3(MLH1):c.380G>T (p.Arg127Ile) rs63751595
NM_000249.3(MLH1):c.454-13A>G rs267607749
NM_000249.3(MLH1):c.454-2A>G rs267607753
NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.3(MLH1):c.677+3A>T rs267607780
NM_000249.3(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.3(MLH1):c.790+1G>T rs267607789
NM_000249.3(MLH1):c.790+4A>C rs267607786
NM_000249.3(MLH1):c.791-2A>T rs267607794
NM_000249.3(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.3(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.3(MLH1):c.885-2A>G rs267607805
NM_000251.2(MSH2):c.1012G>C (p.Gly338Arg) rs63751004
NM_000251.2(MSH2):c.1046C>T (p.Pro349Leu) rs587779067
NM_000251.2(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000251.2(MSH2):c.1313_1315CTC[1] (p.Pro439del) rs587779082
NM_000251.2(MSH2):c.1319T>C (p.Leu440Pro) rs587779084
NM_000251.2(MSH2):c.1355A>T (p.Glu452Val) rs1553361274
NM_000251.2(MSH2):c.1510+1G>A rs1114167852
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1661+5G>C rs267607972
NM_000251.2(MSH2):c.1759G>A (p.Gly587Ser) rs63751140
NM_000251.2(MSH2):c.1759G>T (p.Gly587Cys) rs63751140
NM_000251.2(MSH2):c.1812_1814TGT[1] (p.Val606del) rs267607978
NM_000251.2(MSH2):c.1861C>G (p.Arg621Gly) rs63750508
NM_000251.2(MSH2):c.1862G>T (p.Arg621Leu) rs759263820
NM_000251.2(MSH2):c.1865C>G (p.Pro622Arg) rs28929483
NM_000251.2(MSH2):c.1871T>G (p.Ile624Ser) rs1114167870
NM_000251.2(MSH2):c.1979A>G (p.Asp660Gly) rs1085308057
NM_000251.2(MSH2):c.2005+3_2005+14del rs587779125
NM_000251.2(MSH2):c.2006-3T>G rs1553368975
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.2081T>C (p.Phe694Ser) rs1114167857
NM_000251.2(MSH2):c.2087C>T (p.Pro696Leu) rs267607994
NM_000251.2(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.2(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.2(MSH2):c.2210_2210+1delinsTA rs1114167890
NM_000251.2(MSH2):c.2211-10T>A rs267608006
NM_000251.2(MSH2):c.2245G>A (p.Glu749Lys) rs63751477
NM_000251.2(MSH2):c.2251G>A (p.Gly751Arg) rs63751119
NM_000251.2(MSH2):c.2320A>G (p.Ile774Val) rs775464903
NM_000251.2(MSH2):c.2458+1G>T rs267608010
NM_000251.2(MSH2):c.2459-6_2459-2delTTATA rs1114167841
NM_000251.2(MSH2):c.2635-1G>A rs267608020
NM_000251.2(MSH2):c.2635-2A>C rs1114167818
NM_000251.2(MSH2):c.2635-2A>T rs1114167818
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.367-1G>A rs267607925
NM_000251.2(MSH2):c.488T>A (p.Val163Asp) rs63750214
NM_000251.2(MSH2):c.491G>A (p.Gly164Glu) rs786204082
NM_000251.2(MSH2):c.792+2T>C rs587782408
NM_000251.2(MSH2):c.929T>C (p.Leu310Pro) rs63750640
NM_000251.2(MSH2):c.997T>C (p.Cys333Arg) rs63750468
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
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.2603-1G>C rs977277400
NM_000256.3(MYBPC3):c.3330+1G>T rs1298025872
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3491-2A>C rs397516022
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053
NM_000256.3(MYBPC3):c.772+1G>A rs397516072
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile) rs730880868
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn) rs564101364
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.2345G>A (p.Ser782Asn) rs886039185
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln) rs730880748
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2573G>C (p.Arg858Pro) rs2856897
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys) rs397516171
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn) rs886039204
NM_000257.4(MYH7):c.2886del (p.Val964fs) rs886038901
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) rs397516190
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.2(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000267.3(NF1):c.1062G>A (p.Lys354=) rs1131691118
NM_000267.3(NF1):c.1063-13G>A rs1131691066
NM_000267.3(NF1):c.1070T>G (p.Leu357Arg) rs137854563
NM_000267.3(NF1):c.1186-1G>T rs876660782
NM_000267.3(NF1):c.1393-1G>T rs1131691131
NM_000267.3(NF1):c.1528-1G>A rs876660595
NM_000267.3(NF1):c.1528-1G>T rs876660595
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.1733T>C (p.Leu578Pro) rs199474774
NM_000267.3(NF1):c.2002-2A>C rs1555613741
NM_000267.3(NF1):c.2252-1G>C rs587781577
NM_000267.3(NF1):c.2252-2A>G rs1131691105
NM_000267.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_000267.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_000267.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_000267.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_000267.3(NF1):c.2509T>A (p.Trp837Arg) rs587781747
NM_000267.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_000267.3(NF1):c.3044T>C (p.Leu1015Pro) rs1131691112
NM_000267.3(NF1):c.3315-2A>G rs1555614914
NM_000267.3(NF1):c.3502G>C (p.Gly1168Arg) rs878853883
NM_000267.3(NF1):c.3587T>G (p.Leu1196Arg) rs199474741
NM_000267.3(NF1):c.3871-2A>G rs1131691077
NM_000267.3(NF1):c.4111-2A>G rs1555618489
NM_000267.3(NF1):c.4269G>C (p.Lys1423Asn) rs199474750
NM_000267.3(NF1):c.4276C>A (p.Gln1426Lys) rs1135402857
NM_000267.3(NF1):c.4277A>C (p.Gln1426Pro) rs786204157
NM_000267.3(NF1):c.4307A>G (p.Lys1436Arg) rs1555618656
NM_000267.3(NF1):c.4662-1G>A rs1555619391
NM_000267.3(NF1):c.479G>A (p.Arg160Lys) rs199474752
NM_000267.3(NF1):c.4867G>T (p.Asp1623Tyr) rs1131691123
NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) rs771529172
NM_000267.3(NF1):c.5681T>C (p.Leu1894Pro) rs1555533875
NM_000267.3(NF1):c.5791T>C (p.Trp1931Arg) rs199474791
NM_000267.3(NF1):c.60+2del rs1131691101
NM_000267.3(NF1):c.6642-3C>A rs1131691079
NM_000267.3(NF1):c.6642-3C>G rs1131691079
NM_000267.3(NF1):c.6856_6858del (p.Lys2286del) rs587782819
NM_000267.3(NF1):c.889-1G>T rs587781517
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000302.4(PLOD1):c.1471-2A>G rs1401035675
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100
NM_000314.7(PTEN):c.1026+1G>A rs786201041
NM_000314.7(PTEN):c.1026+1G>C rs786201041
NM_000314.7(PTEN):c.1034T>C (p.Leu345Pro) rs1554826024
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.104T>C (p.Met35Thr) rs121909225
NM_000314.7(PTEN):c.1127_1128insAT (p.His376fs) rs1554826052
NM_000314.7(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.7(PTEN):c.144C>G (p.Asn48Lys) rs762518389
NM_000314.7(PTEN):c.157_159GTA[1] (p.Val54del) rs1554893831
NM_000314.7(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.7(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.7(PTEN):c.203A>C (p.Tyr68Ser) rs876660634
NM_000314.7(PTEN):c.209+1G>T rs1554897280
NM_000314.7(PTEN):c.210-1G>C rs1114167621
NM_000314.7(PTEN):c.210-1G>T rs1114167621
NM_000314.7(PTEN):c.275A>C (p.Asp92Ala) rs1114167623
NM_000314.7(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.7(PTEN):c.355G>C (p.Val119Leu) rs139767111
NM_000314.7(PTEN):c.355G>T (p.Val119Phe) rs139767111
NM_000314.7(PTEN):c.359C>A (p.Ala120Glu) rs1114167647
NM_000314.7(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.7(PTEN):c.370T>G (p.Cys124Gly) rs121909223
NM_000314.7(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.7(PTEN):c.377C>T (p.Ala126Val) rs1114167656
NM_000314.7(PTEN):c.380G>A (p.Gly127Glu) rs398123322
NM_000314.7(PTEN):c.384G>C (p.Lys128Asn) rs1114167645
NM_000314.7(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.7(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.7(PTEN):c.39_41del (p.Arg15del) rs1114167625
NM_000314.7(PTEN):c.402G>T (p.Met134Ile) rs1114167676
NM_000314.7(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.7(PTEN):c.45A>C (p.Arg15Ser) rs1064794096
NM_000314.7(PTEN):c.46T>C (p.Tyr16His) rs1064796078
NM_000314.7(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.7(PTEN):c.476G>T (p.Arg159Met) rs1114167673
NM_000314.7(PTEN):c.493-2A>T rs587781784
NM_000314.7(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.7(PTEN):c.497T>A (p.Val166Glu) rs1554900515
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.518G>C (p.Arg173Pro) rs121913294
NM_000314.7(PTEN):c.518G>T (p.Arg173Leu) rs121913294
NM_000314.7(PTEN):c.520T>A (p.Tyr174Asn) rs587782316
NM_000314.7(PTEN):c.598T>G (p.Phe200Val) rs587782473
NM_000314.7(PTEN):c.635-3C>G rs1085308056
NM_000314.7(PTEN):c.70G>A (p.Asp24Asn) rs786201995
NM_000314.7(PTEN):c.738_743del (p.Leu247_Pro248del) rs1114167666
NM_000314.7(PTEN):c.752_753delinsTG (p.Gly251Val) rs1114167664
NM_000314.7(PTEN):c.761A>C (p.Lys254Thr) rs1114167633
NM_000314.7(PTEN):c.802-2A>G rs587782455
NM_000314.7(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.7(PTEN):c.815A>C (p.His272Pro) rs1114167648
NM_000314.7(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.7(PTEN):c.865A>G (p.Lys289Glu) rs562015640
NM_000321.2(RB1):c.1049+1G>A rs587776782
NM_000321.2(RB1):c.1389+4A>C rs1131690879
NM_000321.2(RB1):c.1421+1G>C rs1131690886
NM_000321.2(RB1):c.1466G>A (p.Cys489Tyr) rs1131690877
NM_000321.2(RB1):c.1498+1G>A rs1131690909
NM_000321.2(RB1):c.2094G>C (p.Arg698Ser) rs1131690891
NM_000321.2(RB1):c.2107-1G>A rs587778860
NM_000321.2(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.2(RB1):c.2325+1G>C rs1131690882
NM_000321.2(RB1):c.2520+5G>A rs1131690881
NM_000321.2(RB1):c.380G>A (p.Ser127Asn) rs1131690843
NM_000321.2(RB1):c.380G>C (p.Ser127Thr) rs1131690843
NM_000321.2(RB1):c.500+1G>T rs1131690880
NM_000321.2(RB1):c.607+2dup rs1131690895
NM_000321.2(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000328.3(RPGR):c.1905+500_1905+501del rs398122960
NM_000334.4(SCN4A):c.692C>T (p.Thr231Met) rs867587467
NM_000335.4(SCN5A):c.1127G>A (p.Arg376His) rs199473101
NM_000335.4(SCN5A):c.1890G>A (p.Thr630=) rs1204915217
NM_000335.4(SCN5A):c.2023+1G>A rs1553703211
NM_000335.4(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584
NM_000335.4(SCN5A):c.2632C>T (p.Arg878Cys) rs199473168
NM_000335.4(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_000335.4(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_000335.4(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.4(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.4(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220
NM_000335.4(SCN5A):c.4134_4136CAA[1] (p.Asn1379del) rs794728922
NM_000335.4(SCN5A):c.4318G>C (p.Glu1440Gln) rs199473249
NM_000335.4(SCN5A):c.4490T>C (p.Met1497Thr) rs199473263
NM_000335.4(SCN5A):c.4716C>T (p.Gly1572=) rs754221948
NM_000335.4(SCN5A):c.4874G>A (p.Arg1625His) rs199473283
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_000335.4(SCN5A):c.5461_5464del (p.Glu1822fs) rs794728924
NM_000335.4(SCN5A):c.612-233G>C rs1553706324
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000346.4(SOX9):c.331G>A (p.Ala111Thr) rs1425166755
NM_000350.3(ABCA4):c.4253+4C>T rs61754044
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000364.4(TNNT2):c.311G>A (p.Arg104His) rs397516457
NM_000364.4(TNNT2):c.418C>T (p.Arg140Cys) rs397516463
NM_000364.4(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_000364.4(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_000364.4(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000368.4(TSC1):c.2208+2T>A rs1064794132
NM_000369.2(TSHR):c.1342G>A (p.Val448Ile) rs201889708
NM_000388.4(CASR):c.649G>T (p.Asp217Tyr) rs201091657
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu) rs397515616
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000432.3(MYL2):c.173G>A (p.Arg58Gln) rs104894369
NM_000432.3(MYL2):c.431del (p.Pro144fs) rs786205430
NM_000432.3(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000455.4(STK11):c.151_162del (p.Met51_Leu54del) rs1131690916
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.200T>C (p.Leu67Pro) rs137853077
NM_000455.4(STK11):c.465-2A>C rs1131690931
NM_000455.4(STK11):c.487G>C (p.Gly163Arg) rs730881972
NM_000455.4(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.4(STK11):c.582C>A (p.Asp194Glu) rs786202134
NM_000455.4(STK11):c.597+1G>T rs886039554
NM_000455.4(STK11):c.709G>C (p.Asp237His) rs878853247
NM_000455.4(STK11):c.719C>G (p.Ser240Trp) rs730881976
NM_000455.4(STK11):c.734+2T>C rs1131690941
NM_000455.4(STK11):c.863-2A>G rs1131690944
NM_000455.4(STK11):c.890_907del (p.Arg297_Gln302del) rs1131690935
NM_000455.4(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000460.4(THPO):c.112C>T (p.Arg38Cys) rs760797899
NM_000465.3(BARD1):c.1395+1dupG rs1553619688
NM_000465.3(BARD1):c.1678-1_1678delGA rs1553615184
NM_000465.4(BARD1):c.1314+1G>A rs753785671
NM_000465.4(BARD1):c.1568+2T>C rs1553619196
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1810+1G>A rs876659894
NM_000465.4(BARD1):c.1810+2T>G rs1234033325
NM_000465.4(BARD1):c.1903+1G>T rs876660237
NM_000465.4(BARD1):c.1904-2del rs876659560
NM_000465.4(BARD1):c.2001+1G>C rs768490891
NM_000465.4(BARD1):c.2002-1G>C rs762601855
NM_000465.4(BARD1):c.2002-2A>T rs876658260
NM_000465.4(BARD1):c.216-1G>A rs876658905
NM_000465.4(BARD1):c.2296_2297TG[2] (p.Val767fs) rs750413473
NM_000489.5(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000489.5(ATRX):c.740A>G (p.Asn247Ser) rs797044865
NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000501.4(ELN):c.1357+1G>T rs1554680190
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe) rs149239881
NM_000520.5(HEXA):c.915_917del (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406
NM_000527.4(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457
NM_000530.8(MPZ):c.600dup (p.Lys201fs) rs1553259529
NM_000535.6(PMS2):c.988+1delG rs876660075
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.163+1G>A rs1064795705
NM_000535.7(PMS2):c.164-1G>A rs763308607
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.2007-2A>C rs587782336
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.220G>C (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337
NM_000535.7(PMS2):c.2275+1G>A rs1554294393
NM_000535.7(PMS2):c.23+1G>T rs587782074
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.2445+1G>A rs876661113
NM_000535.7(PMS2):c.2446-1G>T rs774583397
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.706-2A>C rs745487791
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736
NM_000535.7(PMS2):c.903G>A (p.Lys301=) rs267608153
NM_000535.7(PMS2):c.904-2A>C rs587781339
NM_000540.2(RYR1):c.10347+1G>A rs111436401
NM_000540.2(RYR1):c.10348-6C>G rs193922837
NM_000540.2(RYR1):c.13882_13896dup (p.Met4628_Phe4632dup) rs1555801872
NM_000540.2(RYR1):c.14928C>G (p.Phe4976Leu) rs368874586
NM_000540.2(RYR1):c.3362A>G (p.Tyr1121Cys) rs756138074
NM_000546.5(TP53):c.1000G>T (p.Gly334Trp) rs730882028
NM_000546.5(TP53):c.1010G>T (p.Arg337Leu) rs121912664
NM_000546.5(TP53):c.1025G>C (p.Arg342Pro) rs375338359
NM_000546.5(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.5(TP53):c.1101-1G>A rs876658982
NM_000546.5(TP53):c.313G>A (p.Gly105Ser) rs1060501195
NM_000546.5(TP53):c.313G>C (p.Gly105Arg) rs1060501195
NM_000546.5(TP53):c.314G>A (p.Gly105Asp) rs587781504
NM_000546.5(TP53):c.328_339del (p.Arg110_Phe113del) rs587782490
NM_000546.5(TP53):c.329G>C (p.Arg110Pro) rs11540654
NM_000546.5(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.5(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.375+2T>G rs1555526469
NM_000546.5(TP53):c.375G>C (p.Thr125=) rs55863639
NM_000546.5(TP53):c.376-1G>A rs868137297
NM_000546.5(TP53):c.376-2A>G rs786202799
NM_000546.5(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.5(TP53):c.392A>T (p.Asn131Ile) rs1131691037
NM_000546.5(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.5(TP53):c.401T>G (p.Phe134Cys) rs780442292
NM_000546.5(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.5(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.5(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.5(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.5(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.5(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_000546.5(TP53):c.467G>A (p.Arg156His) rs371524413
NM_000546.5(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.5(TP53):c.470T>A (p.Val157Asp) rs1131691023
NM_000546.5(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.5(TP53):c.472C>T (p.Arg158Cys) rs587780068
NM_000546.5(TP53):c.487T>G (p.Tyr163Asp) rs786203436
NM_000546.5(TP53):c.503A>G (p.His168Arg) rs867114783
NM_000546.5(TP53):c.514G>T (p.Val172Phe) rs1131691043
NM_000546.5(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.5(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.5(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.5(TP53):c.524G>T (p.Arg175Leu) rs28934578
NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.5(TP53):c.530C>G (p.Pro177Arg) rs751477326
NM_000546.5(TP53):c.532C>G (p.His178Asp) rs1064795203
NM_000546.5(TP53):c.533A>C (p.His178Pro) rs1555526004
NM_000546.5(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.5(TP53):c.537T>A (p.His179Gln) rs876660821
NM_000546.5(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.5(TP53):c.541C>T (p.Arg181Cys) rs587782596
NM_000546.5(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.5(TP53):c.559+1G>A rs1131691042
NM_000546.5(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.5(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.5(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.5(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.5(TP53):c.657_665del (p.Tyr220_Pro222del) rs876658144
NM_000546.5(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_000546.5(TP53):c.672G>A (p.Glu224=) rs267605076
NM_000546.5(TP53):c.695T>C (p.Ile232Thr) rs587781589
NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_000546.5(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.5(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_000546.5(TP53):c.716_736del (p.Asn239_Gly245del) rs876659260
NM_000546.5(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.5(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_000546.5(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.5(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.5(TP53):c.736A>C (p.Met246Leu) rs483352695
NM_000546.5(TP53):c.737T>A (p.Met246Lys) rs587780074
NM_000546.5(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_000546.5(TP53):c.738G>A (p.Met246Ile) rs1019340046
NM_000546.5(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.5(TP53):c.75-2A>G rs1131691020
NM_000546.5(TP53):c.751A>C (p.Ile251Leu) rs730882007
NM_000546.5(TP53):c.766A>G (p.Thr256Ala) rs587781433
NM_000546.5(TP53):c.770T>G (p.Leu257Arg) rs28934577
NM_000546.5(TP53):c.782+2T>G rs876659076
NM_000546.5(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.5(TP53):c.800G>C (p.Arg267Pro) rs587780075
NM_000546.5(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.5(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_000546.5(TP53):c.825T>G (p.Cys275Trp) rs1555525279
NM_000546.5(TP53):c.827C>A (p.Ala276Asp) rs786202082
NM_000546.5(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.5(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.5(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.5(TP53):c.838_848delinsCA (p.Arg280_Arg283delinsHis) rs587781564
NM_000546.5(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.5(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.5(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000546.5(TP53):c.853G>A (p.Glu285Lys) rs112431538
NM_000546.5(TP53):c.919+1G>C rs1131691039
NM_000546.5(TP53):c.920-2A>G rs397516439
NM_000546.5(TP53):c.96+1G>T rs1131691003
NM_000546.5(TP53):c.96+2dup rs1131691015
NM_000546.5(TP53):c.993G>A (p.Gln331=) rs11575996
NM_000546.5(TP53):c.994-2A>G rs867389695
NM_000548.5(TSC2):c.1600-2A>G rs1114167466
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr) rs45486196
NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro) rs397514919
NM_000548.5(TSC2):c.5069-3_5069-2del rs1114167460
NM_000551.3(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.3(VHL):c.214T>C (p.Ser72Pro) rs869025618
NM_000551.3(VHL):c.232A>T (p.Asn78Tyr) rs869025621
NM_000551.3(VHL):c.238A>G (p.Ser80Gly) rs786202787
NM_000551.3(VHL):c.242C>T (p.Pro81Leu) rs193922608
NM_000551.3(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.3(VHL):c.263_265dup (p.Leu89_Asn90insArg) rs1131690960
NM_000551.3(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.3(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.3(VHL):c.341-3T>G rs1131690965
NM_000551.3(VHL):c.397A>C (p.Thr133Pro) rs1131690961
NM_000551.3(VHL):c.452T>C (p.Ile151Thr) rs869025655
NM_000551.3(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.3(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
NM_000551.3(VHL):c.487C>T (p.Leu163Phe) rs1553620318
NM_000551.3(VHL):c.506T>C (p.Leu169Pro) rs1131690962
NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.3(VHL):c.533T>C (p.Leu178Pro) rs5030822
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.4789C>T (p.Arg1597Trp) rs61750117
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608
NM_000702.4(ATP1A2):c.2810G>A (p.Arg937His) rs1553245943
NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp) rs1467561684
NM_000720.4(CACNA1D):c.4422+1G>C rs1553676901
NM_000748.3(CHRNB2):c.139C>T (p.Arg47Cys) rs746480833
NM_000814.6(GABRB3):c.863C>T (p.Thr288Ile) rs1555401440
NM_000829.4(GRIA4):c.1921A>G (p.Asn641Asp) rs1555050165
NM_000834.4(GRIN2B):c.4015_4016del (p.Met1339fs) rs1565453023
NM_000891.2(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.2(KCNJ2):c.919A>G (p.Met307Val) rs1555603994
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) rs1553923787
NM_000969.5(RPL5):c.73+1G>A rs1553284965
NM_001001344.2(ATP2B3):c.3338C>T (p.Thr1113Met) rs368215361
NM_001003800.2(BICD2):c.1589T>C (p.Phe530Ser) rs797044920
NM_001005336.3(DNM1):c.1190G>A (p.Gly397Asp) rs1554774708
NM_001005336.3(DNM1):c.134G>A (p.Ser45Asn) rs1554767317
NM_001005336.3(DNM1):c.1610G>A (p.Gly537Asp) rs1554781552
NM_001005369.1(MTIF2):c.899_909del (p.Val300fs) rs1281877795
NM_001005463.3(EBF3):c.488G>A (p.Arg163Gln) rs1057519389
NM_001005463.3(EBF3):c.626G>A (p.Arg209Gln) rs1131692261
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn) rs754664923
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) rs730880196
NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln) rs794728802
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) rs794728804
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.527G>T (p.Arg176Leu) rs794728708
NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg) rs1553263907
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001039523.3(CHRNA1):c.880G>T (p.Val294Phe) rs137852803
NM_001039591.3(USP9X):c.1763+1G>A rs1555922391
NM_001040142.2(SCN2A):c.2636G>C (p.Gly879Ala) rs1559376694
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5737C>T (p.Gln1913Ter) rs1553463850
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001042681.2(RERE):c.1920del (p.Ser641fs) rs1553155778
NM_001048166.1(STIL):c.1229C>G (p.Pro410Arg) rs202194355
NM_001048166.1(STIL):c.3010A>G (p.Arg1004Gly) rs370465985
NM_001065.3(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001065.3(TNFRSF1A):c.184T>G (p.Cys62Gly) rs104895225
NM_001065.3(TNFRSF1A):c.250T>C (p.Cys84Arg) rs104895253
NM_001077416.2(TMEM231):c.949G>A (p.Glu317Lys) rs797044954
NM_001077488.4(GNAS):c.163A>G (p.Thr55Ala) rs797044895
NM_001077488.4(GNAS):c.745G>A (p.Val249Met) rs1555891562
NM_001079515.3(TBCE):c.101G>C (p.Gly34Ala) rs1283368278
NM_001079515.3(TBCE):c.1491_1491+4dup rs746593718
NM_001079846.1(CREBBP):c.4379G>A (p.Arg1460Gln) rs1567269945
NM_001079846.1(CREBBP):c.6210C>A (p.Tyr2070Ter) rs199821421
NM_001080517.2(SETD5):c.1783-2A>T rs797044953
NM_001080522.2(CC2D2A):c.4497-2A>G rs1553845569
NM_001083602.2(PTCH1):c.1264T>C (p.Cys422Arg) rs1131690999
NM_001083602.2(PTCH1):c.3206T>C (p.Leu1069Pro) rs1131690989
NM_001083602.2(PTCH1):c.3242T>C (p.Phe1081Ser) rs1131690990
NM_001083602.2(PTCH1):c.3301G>A (p.Gly1101Arg) rs1131690985
NM_001083602.2(PTCH1):c.4-1561G>A rs1131690967
NM_001083602.2(PTCH1):c.870-1G>T rs1085307752
NM_001083602.2(PTCH1):c.99C>T (p.Gly33=) rs772407797
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543
NM_001083962.2(TCF4):c.1486+2T>C rs1555721921
NM_001083962.2(TCF4):c.1772_1776delinsCT (p.Leu591_Gly592delinsPro) rs1555710416
NM_001083962.2(TCF4):c.1811_1822del (p.Pro604_Lys607del) rs1555710171
NM_001098.3(ACO2):c.1181G>A (p.Gly394Glu) rs761368190
NM_001098.3(ACO2):c.1722G>C (p.Trp574Cys) rs869312927
NM_001098.3(ACO2):c.988C>T (p.Pro330Ser) rs150129663
NM_001100.3(ACTA1):c.218T>G (p.Ile73Ser) rs1553255501
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001101.5(ACTB):c.888C>G (p.Asn296Lys) rs769182426
NM_001101802.2(PHF21A):c.1168C>T (p.Arg390Ter) rs1554988946
NM_001102398.3(HNRNPR):c.1663C>T (p.Gln555Ter) rs1553153365
NM_001103.3(ACTN2):c.683T>C (p.Met228Thr) rs786205144
NM_001110556.2(FLNA):c.415G>C (p.Gly139Arg) rs1557179684
NM_001110556.2(FLNA):c.521G>A (p.Gly174Asp) rs1557179659
NM_001124758.2(SPNS2):c.1065_1067delCCCinsCT (p.Pro356Cysfs) rs1555537637
NM_001127221.1(CACNA1A):c.2137G>A (p.Ala713Thr) rs886037945
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001128126.3(AP4S1):c.17T>C (p.Leu6Pro) rs1335804396
NM_001128126.3(AP4S1):c.2T>C (p.Met1Thr) rs755820725
NM_001128425.1(MUTYH):c.1186+1G>A rs587781337
NM_001128425.1(MUTYH):c.1324-1G>T rs876660837
NM_001128425.1(MUTYH):c.1337_1338TC[2] (p.Ile449fs) rs876659414
NM_001128425.1(MUTYH):c.1476_1476+6delGGCACTA rs864621967
NM_001128425.1(MUTYH):c.1477G>T (p.Val493Phe) rs587782228
NM_001128425.1(MUTYH):c.1518+1G>T rs876659420
NM_001128425.1(MUTYH):c.325C>T (p.Arg109Trp) rs765123255
NM_001128425.1(MUTYH):c.348+1G>T rs1553130042
NM_001128425.1(MUTYH):c.401A>T (p.Glu134Val) rs864622450
NM_001128425.1(MUTYH):c.453_458dup (p.Met153_Gln154insIleTrp) rs876660190
NM_001128425.1(MUTYH):c.462+2T>G rs1553129521
NM_001128425.1(MUTYH):c.504+2T>C rs587782730
NM_001128425.1(MUTYH):c.505-2A>C rs786203161
NM_001128425.1(MUTYH):c.576+1delG rs1553128712
NM_001128425.1(MUTYH):c.577-2A>G rs1553128663
NM_001128425.1(MUTYH):c.690G>A (p.Gln230=) rs199989617
NM_001128425.1(MUTYH):c.721C>T (p.Arg241Trp) rs34126013
NM_001128425.1(MUTYH):c.736G>T (p.Val246Phe) rs587780749
NM_001128425.1(MUTYH):c.820C>T (p.Arg274Trp) rs769237459
NM_001128425.1(MUTYH):c.847A>G (p.Met283Val) rs876659676
NM_001128425.1(MUTYH):c.857G>A (p.Gly286Glu) rs730881833
NM_001128425.1(MUTYH):c.933_933+1delAG rs1553127514
NM_001128849.2(SMARCA4):c.2859+1G>C rs797044856
NM_001130089.1(KARS1):c.-75G>T rs869312925
NM_001130089.1(KARS1):c.683C>T (p.Pro228Leu) rs201650281
NM_001131005.2(MEF2C):c.58A>T (p.Thr20Ser) rs1554139870
NM_001145358.2(SIN3A):c.2478_2479del (p.Gln827fs) rs1555443682
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089
NM_001164277.1(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491
NM_001168272.1(ITPR1):c.4639G>A (p.Val1547Met) rs397514535
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys) rs1057521083
NM_001172509.2(SATB2):c.1253T>G (p.Met418Arg) rs1553547885
NM_001172509.2(SATB2):c.1730_1731del (p.Glu577fs) rs1553544102
NM_001172646.1(PLCB4):c.1898G>A (p.Arg633His) rs397514481
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.593G>C (p.Arg198Pro)
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299
NM_001190919.1(THRA):c.788C>T (p.Ala263Val) rs1555545033
NM_001197293.3(DPYSL2):c.357C>A (p.Ser119Arg) rs138340807
NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser) rs869312920
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001232.3(CASQ2):c.164A>G (p.Tyr55Cys) rs1436844070
NM_001232.3(CASQ2):c.235-2A>G rs1060502164
NM_001232.3(CASQ2):c.923C>T (p.Pro308Leu) rs139228801
NM_001253816.1(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln) rs149705131
NM_001258392.3(CLPB):c.1066+1G>A rs1555087619
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter) rs1260821931
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs) rs794729367
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) rs794729305
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) rs727503658
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.2089A>T (p.Lys697Ter) rs1554023044
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs) rs794729390
NM_001267550.2(TTN):c.45616G>T (p.Glu15206Ter) rs796314079
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter) rs751746401
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs) rs794729319
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736
NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter) rs1553699454
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter) rs1471414348
NM_001267550.2(TTN):c.50487_50490dup (p.Glu16831delinsLysTer) rs1553696967
NM_001267550.2(TTN):c.50661C>A (p.Tyr16887Ter) rs1553696233
NM_001267550.2(TTN):c.53288-1G>C rs1553685927
NM_001267550.2(TTN):c.54112del (p.Glu18038fs) rs794729325
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter) rs1250461669
NM_001267550.2(TTN):c.61637dup (p.Tyr20547fs) rs886039084
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter) rs878854324
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.62627del (p.Val20876fs) rs1553640190
NM_001267550.2(TTN):c.64688del (p.Pro21563fs) rs774395395
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494
NM_001267550.2(TTN):c.67637-1G>C rs886038831
NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs) rs1553614347
NM_001267550.2(TTN):c.70794del (p.Glu23599fs) rs1553612904
NM_001267550.2(TTN):c.72645delinsCTGCAA (p.Ala24216fs) rs1553609137
NM_001267550.2(TTN):c.73508del (p.Asn24503fs) rs886038839
NM_001267550.2(TTN):c.75479_75482del (p.Ile25160fs) rs1553603364
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter) rs1553602546
NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter) rs765997807
NM_001267550.2(TTN):c.77646_77662delinsAGA (p.Ile25883fs) rs794729345
NM_001267550.2(TTN):c.79447dup (p.Asp26483fs) rs886039211
NM_001267550.2(TTN):c.81126del (p.Glu27042fs) rs1553579429
NM_001267550.2(TTN):c.81335_81339AAGAA[1] (p.Lys27114fs) rs886038928
NM_001267550.2(TTN):c.84476del (p.Gly28159fs) rs1553564694
NM_001267550.2(TTN):c.84557dup (p.Ile28187fs) rs1553564589
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577
NM_001267550.2(TTN):c.86620G>T (p.Gly28874Ter) rs765852996
NM_001267550.2(TTN):c.88184del (p.Phe29395fs) rs1553551651
NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter) rs1553547657
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter) rs886038916
NM_001267550.2(TTN):c.89197+1G>C rs1131691873
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs) rs1064794472
NM_001267550.2(TTN):c.91113G>A (p.Trp30371Ter) rs1553538469
NM_001267550.2(TTN):c.91565-1G>A rs775248181
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs) rs886039145
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs) rs748382770
NM_001267550.2(TTN):c.97405_97410delinsAC (p.Glu32469fs) rs1553515430
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085
NM_001267550.2(TTN):c.99496G>T (p.Glu33166Ter) rs886038825
NM_001271.4(CHD2):c.1532T>C (p.Met511Thr) rs1555440555
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val) rs1555442813
NM_001271.4(CHD2):c.3221G>A (p.Arg1074Gln) rs1567152270
NM_001271.4(CHD2):c.4602G>T (p.Trp1534Cys) rs1555445563
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.2(NEB):c.5344-1G>C rs1197561990
NM_001273.5(CHD4):c.3659A>C (p.Lys1220Thr) rs1377989582
NM_001278204.1(KCNN2):c.-44+40816_-44+40818del rs1554086554
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter) rs587777526
NM_001283106.2(TANGO2):c.605+1G>C rs372949028
NM_001313726.1(ANO3):c.1105A>C (p.Ile369Leu) rs869312951
NM_001318836.2(BCS1L):c.-40-214C>T rs377025174
NM_001320.6(CSNK2B):c.73-2A>G rs1554169967
NM_001321729.2(EXOC6B):c.1801-2A>G rs1553417206
NM_001332.4(CTNND2):c.1629-2A>G rs1554008611
NM_001348768.2(HECW2):c.3583G>C (p.Ala1195Pro) rs1553635778
NM_001348768.2(HECW2):c.3989G>A (p.Arg1330Gln) rs1553633403
NM_001348768.2(HECW2):c.4485G>T (p.Arg1495Ser) rs774316240
NM_001348768.2(HECW2):c.4714G>A (p.Glu1572Lys) rs1553629086
NM_001348803.2(ZBTB20):c.1256dup (p.Gly420fs) rs1553794464
NM_001348803.2(ZBTB20):c.1811A>C (p.Lys604Thr) rs483353069
NM_001356.4(DDX3X):c.1498-2A>G rs1131691608
NM_001356.4(DDX3X):c.1538T>C (p.Val513Ala) rs1569240261
NM_001356.4(DDX3X):c.536_543+5inv rs1569237262
NM_001356.4(DDX3X):c.976C>T (p.Arg326Cys) rs1555953548
NM_001360.2(DHCR7):c.1190C>T (p.Ser397Leu)
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001369.2(DNAH5):c.10226G>C (p.Trp3409Ser) rs755407407
NM_001376.5(DYNC1H1):c.10051A>T (p.Ile3351Phe) rs1567018763
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.6989G>A (p.Gly2330Glu) rs1555410010
NM_001380.4(DOCK1):c.1990dup (p.Glu664fs) rs767858333
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp) rs772988029
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654
NM_001429.4(EP300):c.4026-2A>G rs1555911098
NM_001493.3(GDI1):c.819+1G>A rs1557198821
NM_001499.2(GLE1):c.1706G>A (p.Arg569His) rs121434407
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001613.4(ACTA2):c.146T>C (p.Met49Thr) rs869025352
NM_001613.4(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys) rs121434528
NM_001698.2(AUH):c.824C>T (p.Ala275Val) rs748318386
NM_001759.4(CCND2):c.838A>G (p.Thr280Ala) rs587777618
NM_001830.4(CLCN4):c.1634G>A (p.Gly545Asp) rs1555977164
NM_001844.5(COL2A1):c.1061G>T (p.Gly354Val) rs1555167847
NM_001844.5(COL2A1):c.1528G>T (p.Gly510Cys) rs1555167157
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser) rs886044555
NM_001844.5(COL2A1):c.2789G>A (p.Gly930Asp) rs1555165501
NM_001844.5(COL2A1):c.3077G>C (p.Gly1026Ala) rs1555165336
NM_001845.6(COL4A1):c.2096G>A (p.Gly699Asp) rs1064795935
NM_001845.6(COL4A1):c.3032G>A (p.Gly1011Glu) rs1555303010
NM_001845.6(COL4A1):c.3674G>A (p.Gly1225Glu) rs1555302454
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947
NM_001848.2(COL6A1):c.824G>T (p.Gly275Val) rs1556425468
NM_001851.5(COL9A1):c.876+1G>C rs202232444
NM_001854.4(COL11A1):c.1629+1G>A rs1553234339
NM_001904.4(CTNNB1):c.1139A>T (p.Asn380Ile) rs1553631770
NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg) rs797044875
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.3055_3056AG[2] (p.Glu1020fs) rs397516706
NM_001958.4(EEF1A2):c.364G>A (p.Glu122Lys) rs786205866
NM_001999.4(FBN2):c.3486T>G (p.Cys1162Trp) rs1554123064
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr) rs1554122896
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg) rs886038942
NM_001999.4(FBN2):c.539G>A (p.Cys180Tyr) rs1554075372
NM_001999.4(FBN2):c.6638-2A>C rs886039200
NM_002024.5(FMR1):c.797G>A (p.Gly266Glu) rs1569545763
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471
NM_002107.6(H3-3A):c.377A>G (p.Gln126Arg) rs1276519904
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639
NM_002140.4(HNRNPK):c.859C>T (p.Arg287Ter) rs1554698878
NM_002180.2(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp) rs869312953
NM_002335.4(LRP5):c.1709G>A (p.Arg570Gln) rs80358312
NM_002382.5(MAX):c.171+2T>A rs786203009
NM_002382.5(MAX):c.212T>A (p.Ile71Asn) rs876659610
NM_002397.4(MEF2C):c.401_402+2delGTGT rs1561875779
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002470.4(MYH3):c.3269A>C (p.Gln1090Pro) rs1555525941
NM_002471.3(MYH6):c.2462_2469del (p.Arg821fs) rs1555334047
NM_002485.4(NBN):c.1124+1G>C rs1057517209
NM_002485.4(NBN):c.1397+1_1397+9delGTCTGTTTTinsACA rs876659666
NM_002485.4(NBN):c.163_171+3del rs1057516772
NM_002485.4(NBN):c.1846-1G>A rs61753717
NM_002485.4(NBN):c.2070+2T>G rs786203223
NM_002485.4(NBN):c.2071-1G>A rs786201965
NM_002485.4(NBN):c.2071-1G>C rs786201965
NM_002485.4(NBN):c.2184+1G>A rs756363734
NM_002485.4(NBN):c.2184+1G>T rs756363734
NM_002485.4(NBN):c.2234+2T>G rs142301194
NM_002485.4(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002485.4(NBN):c.320+1G>A rs1364533250
NM_002485.4(NBN):c.37+1G>A rs574673404
NM_002485.4(NBN):c.37+2dupT rs876658183
NM_002485.4(NBN):c.481-2A>T rs751567476
NM_002485.4(NBN):c.897-2A>T rs864622090
NM_002485.4(NBN):c.995-2A>G rs876659521
NM_002529.3(NTRK1):c.2206-11G>A rs1553263326
NM_002529.3(NTRK1):c.571T>C (p.Cys191Arg) rs1026300967
NM_002547.3(OPHN1):c.1362-2A>G rs1569215808
NM_002578.5(PAK3):c.276+5G>A rs1569398792
NM_002609.4(PDGFRB):c.1996A>C (p.Asn666His) rs797044887
NM_002641.3(PIGA):c.98A>G (p.His33Arg) rs797044924
NM_002662.5(PLD1):c.2531A>G (p.His844Arg) rs556433569
NM_002693.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002764.3(PRPS1):c.341A>G (p.Asn114Ser) rs137852540
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002878.3(RAD51D):c.263+1G>A rs1555570242
NM_002878.3(RAD51D):c.264-2A>C rs1555568514
NM_002878.3(RAD51D):c.335G>C (p.Gly112Ala) rs587782848
NM_002878.3(RAD51D):c.345+2T>C rs876659394
NM_002878.3(RAD51D):c.346-1G>C rs1555568386
NM_002878.3(RAD51D):c.473_480+1delAGGAACAGG rs786202819
NM_002878.3(RAD51D):c.577-2A>G rs1555567649
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.623dup (p.Thr209fs) rs1555567610
NM_002878.3(RAD51D):c.738G>A (p.Val246=) rs1210620444
NM_002878.3(RAD51D):c.739-1G>A rs1555567202
NM_002878.3(RAD51D):c.772_778del (p.Gly258fs) rs1064795045
NM_002878.3(RAD51D):c.82+1G>A rs786202788
NM_002878.3(RAD51D):c.898C>T (p.Arg300Ter) rs750621215
NM_002878.3(RAD51D):c.898del (p.Arg300fs) rs786202251
NM_002878.3(RAD51D):c.904-2A>T rs1403784434
NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.3(RAF1):c.1837C>A (p.Leu613Ile) rs80338797
NM_002880.3(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_003000.2(SDHB):c.137G>T (p.Arg46Leu) rs772551056
NM_003000.2(SDHB):c.194T>A (p.Leu65His) rs876659329
NM_003000.2(SDHB):c.200+3G>C rs876659330
NM_003000.2(SDHB):c.203G>A (p.Cys68Tyr) rs587782904
NM_003000.2(SDHB):c.238A>G (p.Lys80Glu) rs1131691051
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.278G>T (p.Cys93Phe) rs1131691054
NM_003000.2(SDHB):c.286+1G>A rs786201063
NM_003000.2(SDHB):c.286G>A (p.Gly96Ser) rs587782243
NM_003000.2(SDHB):c.287G>A (p.Gly96Asp) rs778952116
NM_003000.2(SDHB):c.296G>A (p.Gly99Asp) rs878854576
NM_003000.2(SDHB):c.415C>T (p.Leu139Phe) rs397516834
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003000.2(SDHB):c.566G>T (p.Cys189Phe) rs876658540
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.2(SDHB):c.634C>T (p.Leu212Phe) rs1228560456
NM_003000.2(SDHB):c.642+1G>C rs1131691052
NM_003000.2(SDHB):c.642G>T (p.Gln214His) rs1278834014
NM_003000.2(SDHB):c.643-1G>A rs1553177292
NM_003000.2(SDHB):c.649C>T (p.Arg217Cys) rs200245469
NM_003000.2(SDHB):c.653G>C (p.Trp218Ser) rs1553177290
NM_003000.2(SDHB):c.689G>T (p.Arg230Leu) rs587782604
NM_003000.2(SDHB):c.73-1G>A rs1131691055
NM_003000.2(SDHB):c.758G>A (p.Cys253Tyr) rs786201085
NM_003001.3(SDHC):c.148C>T (p.Arg50Cys) rs587778661
NM_003001.3(SDHC):c.179+1G>C rs1057517818
NM_003001.3(SDHC):c.21-2A>G rs1131691062
NM_003001.3(SDHC):c.223G>C (p.Gly75Arg) rs867966048
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_003001.3(SDHC):c.78-1G>A rs786202200
NM_003002.4(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.4(SDHD):c.209G>T (p.Arg70Met) rs755047928
NM_003002.4(SDHD):c.213_215del (p.Val72del) rs1555186992
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.305A>T (p.His102Leu) rs104894302
NM_003002.4(SDHD):c.314+1G>T rs1555187083
NM_003002.4(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003002.4(SDHD):c.340T>A (p.Tyr114Asn) rs876659276
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg) rs786203932
NM_003002.4(SDHD):c.443_444delinsTT (p.Gly148Val) rs1555187635
NM_003018.4(SFTPC):c.397A>C (p.Ser133Arg) rs1554476282
NM_003024.3(ITSN1):c.2227G>T (p.Val743Leu) rs755276554
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003047.5(SLC9A1):c.1351A>C (p.Ile451Leu) rs1553175089
NM_003054.6(SLC18A2):c.895G>C (p.Gly299Arg) rs1293033867
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732
NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp) rs747821417
NM_003070.5(SMARCA2):c.2737T>C (p.Phe913Leu) rs1554623885
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003079.5(SMARCE1):c.227A>G (p.Tyr76Cys) rs1555605893
NM_003106.4(SOX2):c.334C>G (p.Pro112Ala) rs1553862987
NM_003159.2(CDKL5):c.656A>C (p.Gln219Pro) rs786204963
NM_003172.4(SURF1):c.240G>C (p.Gln80His) rs1554768709
NM_003220.3(TFAP2A):c.761G>A (p.Arg254Gln) rs151344530
NM_003220.3(TFAP2A):c.763A>T (p.Arg255Trp) rs121909574
NM_003238.5(TGFB2):c.1139G>T (p.Cys380Phe) rs1553303745
NM_003238.5(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003239.4(TGFB3):c.1102_1105del (p.Leu368fs) rs1555360047
NM_003242.6(TGFBR2):c.1051G>C (p.Gly351Arg) rs1553630221
NM_003289.3(TPM2):c.26A>C (p.Gln9Pro) rs1554659746
NM_003336.4(UBE2A):c.1A>G (p.Met1Val) rs1556235119
NM_003579.4(RAD54L):c.1033G>T (p.Gly345Cys) rs797044888
NM_003579.4(RAD54L):c.1624C>T (p.Arg542Cys) rs374567435
NM_003588.3(CUL4B):c.1258C>G (p.Arg420Gly) rs1260356990
NM_003588.3(CUL4B):c.1906+1G>A rs797044862
NM_003588.3(CUL4B):c.1906+1delG rs1556200443
NM_003611.3(OFD1):c.929T>C (p.Phe310Ser) rs797044917
NM_003620.3(PPM1D):c.1226_1227del (p.Met409fs) rs1555648564
NM_003688.3(CASK):c.2471A>G (p.Gln824Arg) rs759736132
NM_003722.5(TP63):c.500C>T (p.Ser167Phe) rs1553845515
NM_003883.4(HDAC3):c.893A>G (p.Tyr298Cys) rs1554216308
NM_003883.4(HDAC3):c.902G>A (p.Arg301Gln) rs1554216303
NM_003924.3(PHOX2B):c.945A>G (p.Ter315Trp) rs1553897738
NM_003995.3(NPR2):c.668-1G>C rs1554672061
NM_004037.9(AMPD2):c.1070A>G (p.Asn357Ser) rs869312928
NM_004037.9(AMPD2):c.971G>C (p.Arg324Pro) rs746332433
NM_004153.4(ORC1):c.2392-1G>T rs869312969
NM_004153.4(ORC1):c.721+1G>C rs869312957
NM_004168.4(SDHA):c.1064+2T>A rs1553999072
NM_004168.4(SDHA):c.1340A>G (p.His447Arg) rs779151375
NM_004168.4(SDHA):c.150+1G>A rs1057523165
NM_004168.4(SDHA):c.151-1G>C rs1458851277
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144
NM_004168.4(SDHA):c.1794+1G>A rs876659595
NM_004168.4(SDHA):c.1909-1G>A rs1159597886
NM_004168.4(SDHA):c.1909-2A>G rs747939816
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) rs587781720
NM_004187.4(KDM5C):c.1162G>C (p.Ala388Pro) rs199422235
NM_004187.4(KDM5C):c.1499C>T (p.Pro500Leu) rs1569273900
NM_004187.4(KDM5C):c.2092G>A (p.Glu698Lys) rs1057517955
NM_004204.4(PIGQ):c.1199_1201del (p.Tyr400del) rs766667249
NM_004247.4(EFTUD2):c.1465_1466del (p.Gln489fs) rs1555565807
NM_004247.4(EFTUD2):c.702+1G>T rs1085307457
NM_004287.3(GOSR2):c.336+1G>A rs141554661
NM_004321.7(KIF1A):c.641G>A (p.Ser214Asn) rs1553638309
NM_004329.2(BMPR1A):c.1013C>A (p.Ala338Asp) rs199476086
NM_004329.2(BMPR1A):c.1021G>T (p.Gly341Cys) rs1554891077
NM_004329.2(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.2(BMPR1A):c.1474-2A>G rs587781407
NM_004329.2(BMPR1A):c.170C>G (p.Pro57Arg) rs1057517610
NM_004329.2(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.2(BMPR1A):c.245G>T (p.Cys82Phe) rs1554888310
NM_004329.2(BMPR1A):c.355C>T (p.Arg119Cys) rs587782494
NM_004329.2(BMPR1A):c.370T>C (p.Cys124Arg) rs199476087
NM_004329.2(BMPR1A):c.371G>A (p.Cys124Tyr) rs587782388
NM_004329.2(BMPR1A):c.67G>A (p.Gly23Arg) rs1131691171
NM_004329.2(BMPR1A):c.68-1G>A rs1131691174
NM_004329.2(BMPR1A):c.68-1G>C rs1131691174
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_004360.5(CDH1):c.1057G>A (p.Glu353Lys) rs876661091
NM_004360.5(CDH1):c.1137+2T>C rs786202817
NM_004360.5(CDH1):c.1553_1565+39del rs1555516191
NM_004360.5(CDH1):c.1566-1G>C rs113583899
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg) rs746481984
NM_004360.5(CDH1):c.1703C>G (p.Thr568Arg) rs786202712
NM_004360.5(CDH1):c.1711+1G>A rs886041161
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser) rs786202290
NM_004360.5(CDH1):c.2272G>A (p.Glu758Lys) rs786202785
NM_004360.5(CDH1):c.2296-2A>G rs876660393
NM_004360.5(CDH1):c.2440-2A>G rs1555518210
NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter) rs1555518211
NM_004360.5(CDH1):c.2474dup (p.Pro826fs) rs1555518221
NM_004360.5(CDH1):c.2490dup (p.Leu831fs) rs1131690822
NM_004360.5(CDH1):c.2506G>T (p.Glu836Ter) rs1555518239
NM_004369.3(COL6A3):c.6354+1G>A rs886042883
NM_004370.6(COL12A1):c.8453G>A (p.Gly2818Glu) rs1554168326
NM_004415.4(DSP):c.6950_6951AG[2] (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.8188del (p.Gln2730fs) rs886038929
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004456.4(EZH2):c.406G>C (p.Asp136His) rs1554499814
NM_004463.3(FGD1):c.1328G>A (p.Arg443His) rs137853266
NM_004463.3(FGD1):c.1555C>T (p.Arg519Cys) rs1557189252
NM_004484.3(GPC3):c.1666G>A (p.Gly556Arg) rs267606850
NM_004493.2(HSD17B10):c.439C>T (p.Arg147Cys) rs1064794694
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His) rs749205120
NM_004541.4(NDUFA1):c.127T>C (p.Tyr43His) rs797044914
NM_004572.3(PKP2):c.2299+1G>A rs794729116
NM_004572.3(PKP2):c.2509del (p.Ser837fs) rs727504432
NM_004586.3(RPS6KA3):c.326-11A>G rs1555943503
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636
NM_004656.4(BAP1):c.38-1G>A rs1553646367
NM_004656.4(BAP1):c.659+3A>C rs878854741
NM_004859.4(CLTC):c.2204C>T (p.Ala735Val) rs1555605688
NM_004859.4(CLTC):c.4904-1G>A rs781677731
NM_004947.5(DOCK3):c.382C>T (p.Gln128Ter) rs1553749681
NM_004964.3(HDAC1):c.461A>G (p.Asn154Ser) rs797044931
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004975.4(KCNB1):c.988G>A (p.Glu330Lys) rs1555889114
NM_004992.3(MECP2):c.1163dup (p.Pro389fs) rs267608339
NM_004992.3(MECP2):c.312G>T (p.Trp104Cys) rs1557137745
NM_004992.3(MECP2):c.917G>C (p.Arg306Pro) rs61751443
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_005045.4(RELN):c.812G>T (p.Gly271Val) rs1554404338
NM_005120.3(MED12):c.1300del (p.Ala434fs) rs1556334793
NM_005120.3(MED12):c.6358C>T (p.Gln2120Ter) rs1556340124
NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp) rs397517065
NM_005183.4(CACNA1F):c.1639G>A (p.Ala547Thr) rs781923856
NM_005235.3(ERBB4):c.111_112CT[4] (p.Leu39_Ser40insTer) rs1553563398
NM_005267.5(GJA8):c.136G>A (p.Gly46Arg) rs1553242554
NM_005267.5(GJA8):c.151G>T (p.Asp51Tyr) rs864309703
NM_005270.4(GLI2):c.3689delC (p.Ala1230Glufs) rs1553479405
NM_005276.4(GPD1):c.866_867del (p.Lys289fs) rs746781699
NM_005321.2(H1-4):c.425_426insG rs1131690805
NM_005349.3(RBPJ):c.169C>G (p.Gln57Glu) rs1553878198
NM_005359.5(SMAD4):c.1088G>A (p.Cys363Tyr) rs876660556
NM_005359.5(SMAD4):c.1308+1G>A rs587781618
NM_005359.5(SMAD4):c.1308+1G>T rs587781618
NM_005359.5(SMAD4):c.250-1G>C rs1555685149
NM_005359.5(SMAD4):c.905-1G>A rs1555686070
NM_005359.5(SMAD4):c.989A>G (p.Glu330Gly) rs281875324
NM_005402.4(RALA):c.73G>A (p.Val25Met) rs1554297905
NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) rs140236996
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu) rs762770081
NM_005559.4(LAMA1):c.7870T>C (p.Tyr2624His) rs797044940
NM_005591.3(MRE11):c.1018-1G>A rs1555012083
NM_005591.3(MRE11):c.1098+2T>C rs876659343
NM_005591.3(MRE11):c.1225+1G>A rs876658665
NM_005591.3(MRE11):c.1226-2A>C rs1555009945
NM_005591.3(MRE11):c.154-1G>A rs1555017290
NM_005591.3(MRE11):c.1784-2A>G rs201572020
NM_005591.3(MRE11):c.1867+2T>C rs745677716
NM_005591.3(MRE11):c.1868-2A>C rs1555002450
NM_005591.3(MRE11):c.1926+2T>C rs1555002390
NM_005591.3(MRE11):c.1926+2_1926+5delTAAG rs1555002387
NM_005591.3(MRE11):c.1927-1G>T rs1295485913
NM_005591.3(MRE11):c.1927-2A>G rs587781822
NM_005591.3(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442
NM_005591.3(MRE11):c.2070+2T>A rs786202801
NM_005591.3(MRE11):c.21-6_26delATATAGTGATGA rs587780138
NM_005591.3(MRE11):c.315-2A>G rs876659145
NM_005591.3(MRE11):c.3G>T (p.Met1Ile) rs1555018818
NM_005591.3(MRE11):c.402+2_402+3delTAinsGGG rs1555015413
NM_005591.3(MRE11):c.545-1G>A rs1451215042
NM_005591.3(MRE11):c.660-1G>A rs876658917
NM_005629.4(SLC6A8):c.1016+2T>C rs1557045066
NM_005629.4(SLC6A8):c.318_320CTT[1] (p.Phe107del) rs80338739
NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.3(SOS1):c.2207T>G (p.Ile736Arg) rs1553354396
NM_005633.3(SOS1):c.512T>G (p.Val171Gly) rs397517174
NM_005639.3(SYT1):c.1090G>A (p.Asp364Asn) rs1555226395
NM_005654.6(NR2F1):c.425G>T (p.Arg142Leu) rs1554074684
NM_005682.7(ADGRG1):c.1370A>G (p.Asp457Gly) rs142684762
NM_005691.3(ABCC9):c.3796G>A (p.Val1266Met) rs1555179320
NM_005710.2(PQBP1):c.232C>T (p.Pro78Ser) rs1557041239
NM_005732.3(RAD50):c.1631_1635+1delACAAAG rs1235022794
NM_005732.3(RAD50):c.2718+1_2718+5delGTAAG rs876659158
NM_005732.4(RAD50):c.1052-2A>C rs876660957
NM_005732.4(RAD50):c.129+2T>A rs748086984
NM_005732.4(RAD50):c.130-1G>T rs876658784
NM_005732.4(RAD50):c.1794-1G>A rs587781742
NM_005732.4(RAD50):c.1794-1G>T rs587781742
NM_005732.4(RAD50):c.1969+1G>A rs587782078
NM_005732.4(RAD50):c.1970-2A>G rs876660728
NM_005732.4(RAD50):c.1A>G (p.Met1Val) rs876658212
NM_005732.4(RAD50):c.213+1G>T rs765484171
NM_005732.4(RAD50):c.2829+5G>C rs1446519890
NM_005732.4(RAD50):c.2830-2A>C rs1554099356
NM_005732.4(RAD50):c.3164+1G>A rs786203805
NM_005732.4(RAD50):c.3164+1G>C rs786203805
NM_005732.4(RAD50):c.3164+1G>T rs786203805
NM_005732.4(RAD50):c.3389+1G>A rs762648843
NM_005732.4(RAD50):c.3475+2T>C rs761168506
NM_005732.4(RAD50):c.3476-10_3480del rs587782866
NM_005732.4(RAD50):c.3612_3618+5del rs995265408
NM_005732.4(RAD50):c.3618+1G>A rs587781925
NM_005732.4(RAD50):c.366-2A>G rs1554097755
NM_005732.4(RAD50):c.3G>A (p.Met1Ile) rs377260382
NM_005732.4(RAD50):c.552-1G>A rs1236278956
NM_005732.4(RAD50):c.756+2T>C rs764122619
NM_005732.4(RAD50):c.756_756+2delinsTG rs1554097840
NM_005732.4(RAD50):c.886-4_890delinsCAAATAAA rs1554098191
NM_005850.5(SF3B4):c.164-1G>A rs797044869
NM_005859.5(PURA):c.472G>T (p.Asp158Tyr) rs797044866
NM_005859.5(PURA):c.563T>C (p.Ile188Thr) rs793888527
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005902.4(SMAD3):c.1154G>C (p.Arg385Thr) rs886038770
NM_005902.4(SMAD3):c.1A>C (p.Met1Leu) rs1555405092
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp) rs387906850
NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln) rs387906788
NM_006009.4(TUBA1A):c.1055A>T (p.Lys352Met) rs1555162303
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006009.4(TUBA1A):c.959G>A (p.Arg320His) rs1555162323
NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys) rs869312956
NM_006037.3(HDAC4):c.743C>T (p.Pro248Leu) rs1064797002
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly) rs1057519927
NM_006236.3(POU3F3):c.1197del (p.Ile400fs) rs1553426479
NM_006236.3(POU3F3):c.992_1006del (p.Gln331_Lys335del) rs1553426462
NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys) rs863225080
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_006306.3(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.3(SMC1A):c.3197G>A (p.Arg1066His) rs1556886034
NM_006306.3(SMC1A):c.3578T>G (p.Phe1193Cys) rs869312954
NM_006361.5(HOXB13):c.251G>A (p.Gly84Glu) rs138213197
NM_006516.3(SLC2A1):c.680-11G>A rs1259158687
NM_006516.3(SLC2A1):c.881C>T (p.Ser294Phe) rs1557645723
NM_006565.4(CTCF):c.782-2A>G rs1555534189
NM_006648.3(WNK2):c.4801dupG rs757473977
NM_006744.4(RBP4):c.223G>A (p.Ala75Thr) rs794726861
NM_006745.5(MSMO1):c.731A>G (p.Tyr244Cys) rs760048191
NM_006767.4(LZTR1):c.400+1G>C rs1555927561
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006772.3(SYNGAP1):c.1718G>T (p.Arg573Leu) rs1554121685
NM_006772.3(SYNGAP1):c.3794+2T>C rs1395368098
NM_006852.4(TLK2):c.1746del (p.Ala583fs) rs1555661506
NM_006885.4(ZFHX3):c.6850C>T (p.Arg2284Ter) rs869312913
NM_006914.4(RORB):c.1249_1251del (p.Thr417del) rs869312972
NM_006920.6(SCN1A):c.1663-2A>G
NM_006920.6(SCN1A):c.2591C>T (p.Thr864Met) rs121918623
NM_006920.6(SCN1A):c.2603T>G (p.Leu868Arg) rs1559200901
NM_006920.6(SCN1A):c.3935C>A (p.Pro1312His) rs1057521746
NM_006920.6(SCN1A):c.4874G>A (p.Arg1625Gln) rs121917995
NM_006920.6(SCN1A):c.5273A>G (p.Tyr1758Cys) rs886039460
NM_006920.6(SCN1A):c.652T>C (p.Phe218Leu)
NM_006920.6(SCN1A):c.841C>A (p.Pro281Thr) rs1553549660
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala) rs1553517274
NM_006946.3(SPTBN2):c.1915G>T (p.Glu639Ter) rs769987150
NM_006950.3(SYN1):c.635G>T (p.Ser212Ile) rs1556860638
NM_007194.3(CHEK2):c.1096-3_1098delTAGATT rs876659838
NM_007194.4(CHEK2):c.1008+1G>A rs1555915298
NM_007194.4(CHEK2):c.1008+1G>T rs1555915298
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.1009-2A>G rs766158073
NM_007194.4(CHEK2):c.1095+1G>A rs768172525
NM_007194.4(CHEK2):c.1096-1G>A rs1060502716
NM_007194.4(CHEK2):c.1096-1G>C rs1060502716
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1259+1G>C rs121908707
NM_007194.4(CHEK2):c.1260-1G>A rs786201906
NM_007194.4(CHEK2):c.1375+1_1375+2del rs876660801
NM_007194.4(CHEK2):c.1376-1G>A rs876659287
NM_007194.4(CHEK2):c.1376-1G>C rs876659287
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1558_1559insC (p.Lys520fs) rs876658646
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) rs587782684
NM_007194.4(CHEK2):c.319+1G>A rs765080766
NM_007194.4(CHEK2):c.319+2T>A rs587782401
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.445-1G>C rs587782830
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.593-1G>A rs786203229
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.683+1G>A rs786203650
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.684-1G>A rs1298667185
NM_007194.4(CHEK2):c.792+2T>C rs545982789
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.846+1G>A rs864622149
NM_007194.4(CHEK2):c.846+1G>C rs864622149
NM_007194.4(CHEK2):c.908+1G>A rs587781699
NM_007194.4(CHEK2):c.909-1G>A rs886039721
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.937-2A>G rs1568660279
NM_007294.3(BRCA1):c.*1271T>C rs1555574034
NM_007294.3(BRCA1):c.110C>G (p.Thr37Arg) rs80356880
NM_007294.3(BRCA1):c.115T>A (p.Cys39Ser) rs80357164
NM_007294.3(BRCA1):c.116G>T (p.Cys39Phe) rs80357498
NM_007294.3(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.3(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.3(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.3(BRCA1):c.212+1delG rs786203526
NM_007294.3(BRCA1):c.212G>T (p.Arg71Met) rs80356913
NM_007294.3(BRCA1):c.301+1G>A rs587782173
NM_007294.3(BRCA1):c.301+1G>C rs587782173
NM_007294.3(BRCA1):c.301+1G>T rs587782173
NM_007294.3(BRCA1):c.302-1G>T rs80358116
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4185G>C (p.Gln1395His) rs80356857
NM_007294.3(BRCA1):c.4357+1G>C rs80358027
NM_007294.3(BRCA1):c.441+1G>A rs397509172
NM_007294.3(BRCA1):c.441+2T>C rs397509173
NM_007294.3(BRCA1):c.441G>C (p.Leu147Phe) rs748876625
NM_007294.3(BRCA1):c.4485-2A>G rs80358054
NM_007294.3(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.3(BRCA1):c.4676-1G>A rs80358008
NM_007294.3(BRCA1):c.4676-1G>C rs80358008
NM_007294.3(BRCA1):c.4676-2A>G rs80358096
NM_007294.3(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.3(BRCA1):c.4986+3G>C rs80358023
NM_007294.3(BRCA1):c.4986+4A>T rs80358087
NM_007294.3(BRCA1):c.4986+6T>G rs80358086
NM_007294.3(BRCA1):c.4987-1G>C rs730881495
NM_007294.3(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.3(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.3(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.3(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.3(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.3(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.3(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.3(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.3(BRCA1):c.5141T>G (p.Val1714Gly) rs80357243
NM_007294.3(BRCA1):c.5143A>T (p.Ser1715Cys) rs80357222
NM_007294.3(BRCA1):c.5153-16_5156del20insAATA rs587781526
NM_007294.3(BRCA1):c.5153-2A>G rs786202545
NM_007294.3(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.3(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.3(BRCA1):c.5194-2A>C rs80358069
NM_007294.3(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.3(BRCA1):c.5252G>C (p.Arg1751Pro) rs80357442
NM_007294.3(BRCA1):c.5254G>C (p.Ala1752Pro) rs80357074
NM_007294.3(BRCA1):c.5277G>T (p.Lys1759Asn) rs80356854
NM_007294.3(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_007294.3(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.3(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.3(BRCA1):c.5362G>T (p.Gly1788Cys) rs397509271
NM_007294.3(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.3(BRCA1):c.5406+5G>C rs80358073
NM_007294.3(BRCA1):c.5406+5G>T rs80358073
NM_007294.3(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.3(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.3(BRCA1):c.5467+2T>C rs80358009
NM_007294.3(BRCA1):c.547+1G>A rs80358030
NM_007294.3(BRCA1):c.547+1G>T rs80358030
NM_007294.3(BRCA1):c.547+2T>A rs80358047
NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.3(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.3(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.3(BRCA1):c.5527G>C (p.Ala1843Pro) rs80357019
NM_007294.3(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.3(BRCA1):c.5578dup (p.His1860fs) rs397507254
NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.3(BRCA1):c.671-1G>T rs80358020
NM_007294.3(BRCA1):c.80+1G>C rs80358010
NM_007294.3(BRCA1):c.80+5G>A rs80358045
NM_007294.3(BRCA1):c.80+5G>T rs80358045
NM_007325.5(GRIA3):c.1502G>C (p.Arg501Thr) rs1556317780
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) rs797045047
NM_013227.3(ACAN):c.6127G>T (p.Glu2043Ter) rs267604368
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr) rs1468358104
NM_014053.4(FLVCR1):c.3G>T (p.Met1Ile) rs899735028
NM_014080.4(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_014191.4(SCN8A):c.5279T>C (p.Met1760Thr) rs1555231012
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014362.4(HIBCH):c.371T>C (p.Leu124Pro) rs1553505302
NM_014516.4(CNOT3):c.1440dup (p.Gly481fs) rs1555806893
NM_014727.2(KMT2B):c.5724_5751del (p.Pro1909fs) rs1555732564
NM_014780.4(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334
NM_014783.6(ARHGAP11A):c.2370_2371del (p.Thr790_Cys791insTer) rs555387669
NM_014845.5(FIG4):c.2459+1G>A rs747768373
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014946.3(SPAST):c.1206_1208CTT[1] (p.Phe404del) rs1553317028
NM_014946.3(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.3(SPAST):c.1634C>G (p.Ser545Ter) rs869312949
NM_014965.5(TRAK1):c.1236_1237AG[1] (p.Glu413fs) rs1553608726
NM_015039.4(NMNAT2):c.403dup (p.Gln135fs) rs775499191
NM_015039.4(NMNAT2):c.695G>A (p.Arg232Gln) rs768849266
NM_015046.7(SETX):c.340_342CTT[1] (p.Leu115del) rs587776537
NM_015047.3(EMC1):c.1751C>A (p.Pro584His) rs1553252938
NM_015125.4(CIC):c.4040+2T>C rs1555773152
NM_015141.3(GPD1L):c.839C>T (p.Ala280Val) rs72552291
NM_015160.3(PMPCA):c.1130C>T (p.Ala377Val) rs963172852
NM_015185.3(ARHGEF9):c.1012C>T (p.Arg338Trp) rs869312941
NM_015215.4(CAMTA1):c.766C>T (p.Gln256Ter) rs1553238271
NM_015259.6(ICOSLG):c.55+1G>T rs1165558487
NM_015335.4(MED13L):c.3935-2A>G rs1555244216
NM_015335.4(MED13L):c.5033T>A (p.Val1678Asp) rs1555243099
NM_015338.5(ASXL1):c.1542_1543TG[1] (p.Val515fs) rs777537805
NM_015346.4(ZFYVE26):c.3935C>A (p.Ser1312Ter) rs752283089
NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter) rs869312914
NM_015915.4(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.4(ATL1):c.1483C>T (p.Arg495Trp) rs864622269
NM_016035.5(COQ4):c.202G>C (p.Asp68His) rs758522459
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys) rs1045118320
NM_016219.4(MAN1B1):c.620+1del rs1564278864
NM_016239.3(MYO15A):c.8183G>A rs184435771
NM_016239.4(MYO15A):c.4547T>G (p.Leu1516Arg) rs1555543296
NM_016401.4(HIKESHI):c.164A>G (p.Tyr55Cys) rs1387003933
NM_016729.3(FOLR1):c.639G>A (p.Trp213Ter)
NM_016955.4(SEPSECS):c.355A>G (p.Asn119Asp) rs1553881788
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017635.5(KMT5B):c.970T>G (p.Cys324Gly) rs1555027828
NM_017739.3(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562
NM_017780.4(CHD7):c.5050G>A (p.Gly1684Ser) rs1554602465
NM_017807.4(OSGEP):c.319G>A (p.Val107Met) rs140583554
NM_017841.2(SDHAF2):c.347G>A (p.Trp116Ter) rs876658350
NM_017841.2(SDHAF2):c.371-2A>G rs375280597
NM_017849.3(TMEM127):c.570del (p.Thr191fs) rs1215337884
NM_017882.3(CLN6):c.486+1G>A rs756522171
NM_017890.4(VPS13B):c.3397C>T (p.Pro1133Ser) rs781781537
NM_017909.4(RMND1):c.1348T>C (p.Ter450Arg) rs1554340243
NM_017946.3(FKBP14):c.463_464CT[2] (p.Leu155_Ser156insTer) rs753775062
NM_018006.5(TRMU):c.671T>G (p.Ile224Ser) rs926748713
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283
NM_018122.5(DARS2):c.549G>A (p.Met183Ile) rs869312930
NM_018131.5(CEP55):c.1191+2T>C rs1002854345
NM_018136.5(ASPM):c.8988-1G>C rs1553326645
NM_018194.6(HHAT):c.1A>T (p.Met1Leu) rs1340611668
NM_018206.6(VPS35):c.1463A>G (p.Gln488Arg) rs797044948
NM_018486.3(HDAC8):c.416G>C (p.Gly139Ala) rs878853048
NM_018668.4(VPS33B):c.1225+5G>C rs398122407
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.92G>A (p.Gly31Asp) rs1366421988
NM_019074.4(DLL4):c.1679_1689del (p.Pro560fs) rs1555393172
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr) rs755933881
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter) rs201618750
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) rs772887102
NM_020376.4(PNPLA2):c.187+1G>C rs1554975332
NM_020435.4(GJC2):c.83T>C (p.Leu28Pro) rs1553262430
NM_020442.5(VARS2):c.511C>T (p.Arg171Trp) rs139515727
NM_020732.3(ARID1B):c.1762G>T (p.Glu588Ter) rs201653711
NM_020732.3(ARID1B):c.6454C>T (p.Gln2152Ter) rs1554238093
NM_020732.3(ARID1B):c.6547C>T (p.Gln2183Ter) rs1308155037
NM_020812.3(DOCK6):c.4650+1_4650+3delGTG rs1280482569
NM_020822.3(KCNT1):c.1429G>A (p.Ala477Thr) rs1564367605
NM_020920.4(CHD8):c.3045+1G>A rs1555314736
NM_020971.3(SPTBN4):c.2052_2071dup (p.Leu691fs) rs1555815437
NM_020988.3(GNAO1):c.520G>A (p.Asp174Asn) rs1567488305
NM_021005.4(NR2F2):c.940T>C (p.Cys314Arg) rs1555447237
NM_021008.3(DEAF1):c.658G>A (p.Gly220Ser) rs751569402
NM_021008.3(DEAF1):c.676C>T (p.Arg226Trp) rs587777623
NM_021083.4(XK):c.1015A>T (p.Lys339Ter) rs1556450491
NM_021625.4(TRPV4):c.842A>C (p.Tyr281Ser) rs1555208063
NM_021911.2(GABRB2):c.626A>C (p.Gln209Pro) rs1554094278
NM_022089.4(ATP13A2):c.477+2T>G rs758014228
NM_022095.4(ZNF335):c.3092G>A (p.Arg1031Gln) rs1350201776
NM_022166.4(XYLT1):c.2560G>T (p.Glu854Ter) rs769391314
NM_022455.4(NSD1):c.4756T>C (p.Cys1586Arg) rs1554198434
NM_022893.4(BCL11A):c.56-1G>C rs1553353092
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr) rs531254130
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu) rs372350326
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) rs138632121
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) rs200426926
NM_024422.6(DSC2):c.1521-1G>A rs886039128
NM_024496.4(IRF2BPL):c.2152del (p.Cys718fs) rs1555377234
NM_024665.6(TBL1XR1):c.991A>T (p.Ile331Phe) rs1553810244
NM_024675.3(PALB2):c.108+1G>A rs1060499814
NM_024675.3(PALB2):c.109-2A>G rs730881897
NM_024675.3(PALB2):c.1684+1G>A rs1555461148
NM_024675.3(PALB2):c.1684+1G>T rs1555461148
NM_024675.3(PALB2):c.1685-2A>G rs754660432
NM_024675.3(PALB2):c.212-2A>G rs730881879
NM_024675.3(PALB2):c.2559C>T (p.Gly853=) rs180177115
NM_024675.3(PALB2):c.2748+1G>A rs753153576
NM_024675.3(PALB2):c.2748+1G>T rs753153576
NM_024675.3(PALB2):c.2748+2T>C rs1060499821
NM_024675.3(PALB2):c.2749-2A>C rs1555459747
NM_024675.3(PALB2):c.2834+1G>C rs587776419
NM_024675.3(PALB2):c.2834+1G>T rs587776419
NM_024675.3(PALB2):c.2835-1G>A rs515726099
NM_024675.3(PALB2):c.2835-1G>C rs515726099
NM_024675.3(PALB2):c.2997-2A>C rs1555459421
NM_024675.3(PALB2):c.3113+5G>C rs876659463
NM_024675.3(PALB2):c.3114-1G>A rs886039619
NM_024675.3(PALB2):c.3201+1G>T rs587776423
NM_024675.3(PALB2):c.3202-2A>C rs1060499827
NM_024675.3(PALB2):c.3350+5G>A rs587782566
NM_024675.3(PALB2):c.3505_3506TC[1] (p.His1170fs) rs587776428
NM_024675.3(PALB2):c.48+1G>A rs515726118
NM_024675.3(PALB2):c.48+1G>C rs515726118
NM_024675.3(PALB2):c.48+1delG rs1060499829
NM_024675.3(PALB2):c.48+2T>G rs876659679
NM_024675.3(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.3(PALB2):c.49-2A>T rs786203245
NM_024685.4(BBS10):c.1804G>T (p.Val602Leu) rs778431173
NM_024757.5(EHMT1):c.1307C>T (p.Pro436Leu) rs869312936
NM_025077.4(TOE1):c.-35C>T rs1553136984
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) rs397515440
NM_030632.3(ASXL3):c.3039+2T>A rs1555743005
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243
NM_030962.3(SBF2):c.3602A>G (p.His1201Arg) rs869312970
NM_030962.3(SBF2):c.3857T>C (p.Val1286Ala) rs869312963
NM_031206.4(LAS1L):c.1430G>A (p.Ser477Asn) rs797044926
NM_031407.7(HUWE1):c.12904G>A (p.Gly4302Ser) rs1556909335
NM_031466.7(TRAPPC9):c.2276-1G>A rs1465738840
NM_031844.3(HNRNPU):c.970A>G (p.Arg324Gly) rs1553283037
NM_031885.4(BBS2):c.2107C>T (p.Arg703Ter) rs567573386
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.1340+1G>A rs1555607022
NM_032043.2(BRIP1):c.1473+1G>A rs748274524
NM_032043.2(BRIP1):c.1474-1G>A rs1555603638
NM_032043.2(BRIP1):c.1936-1G>A rs1555601204
NM_032043.2(BRIP1):c.206-1G>T rs1555617934
NM_032043.2(BRIP1):c.206-2A>G rs786203700
NM_032043.2(BRIP1):c.2097+1G>C rs786202941
NM_032043.2(BRIP1):c.2379+1G>A rs1555590286
NM_032043.2(BRIP1):c.2492+2dupT rs587780240
NM_032043.2(BRIP1):c.2493-1G>C rs786203451
NM_032043.2(BRIP1):c.2576-2A>G rs869312763
NM_032043.2(BRIP1):c.2905+1G>A rs876660203
NM_032043.2(BRIP1):c.3173_3179delinsCTC (p.Leu1058fs) rs1555572799
NM_032043.2(BRIP1):c.3196del (p.Ser1066fs) rs730881645
NM_032043.2(BRIP1):c.3232A>T (p.Lys1078Ter) rs786202927
NM_032043.2(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.2(BRIP1):c.3386_3389CTAT[1] (p.Tyr1131fs) rs778664039
NM_032043.2(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer) rs876660100
NM_032043.2(BRIP1):c.3440dup (p.Asn1147fs) rs753683450
NM_032043.2(BRIP1):c.3525dup (p.Ile1176fs) rs777367075
NM_032043.2(BRIP1):c.508-1G>C rs864622277
NM_032043.2(BRIP1):c.508-2A>T rs876659707
NM_032043.2(BRIP1):c.627+1G>A rs587780833
NM_032043.2(BRIP1):c.628-5_629delTACAGCC rs1555609402
NM_032043.2(BRIP1):c.751C>T (p.Arg251Cys) rs752309409
NM_032043.2(BRIP1):c.918+1G>A rs587781655
NM_032043.2(BRIP1):c.93+1G>T rs587782047
NM_032588.3(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_032682.5(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_032888.4(COL27A1):c.3062G>A (p.Gly1021Asp) rs1554816354
NM_032888.4(COL27A1):c.5185C>T (p.Gln1729Ter) rs1554829390
NM_033290.4(MID1):c.1342T>C (p.Tyr448His) rs1569270016
NM_033407.3(DOCK7):c.3843G>A (p.Thr1281=) rs1553163123
NM_033409.4(SLC52A3):c.1156T>C (p.Cys386Arg) rs1555783543
NM_033409.4(SLC52A3):c.1313T>C (p.Leu438Pro) rs1167512470
NM_033517.1(SHANK3):c.4540dup (p.Glu1514fs) rs1569116595
NM_052867.4(NALCN):c.4605-1G>C rs1555373511
NM_052867.4(NALCN):c.4755+1G>T rs1158141270
NM_052874.5(STX1B):c.106-2A>G rs1567379470
NM_052874.5(STX1B):c.431G>T (p.Cys144Phe) rs1555494259
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_057175.5(NAA15):c.1410+1G>A rs1553996876
NM_058216.1(RAD51C):c.571+1delG rs1327086366
NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter) rs759292615
NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter) rs1555605103
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.145+1G>A rs757128712
NM_058216.3(RAD51C):c.146-2A>G rs1555593457
NM_058216.3(RAD51C):c.146-4_146-2del rs1555593450
NM_058216.3(RAD51C):c.404+2T>C rs730881931
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser) rs767796996
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_058216.3(RAD51C):c.572-2A>G rs145310733
NM_058216.3(RAD51C):c.705+1G>A rs876658644
NM_058216.3(RAD51C):c.706-1G>T rs1555599090
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997
NM_058216.3(RAD51C):c.837+1del rs1555599288
NM_058216.3(RAD51C):c.838-2A>G rs748589398
NM_058216.3(RAD51C):c.904+1G>T rs1555602159
NM_058216.3(RAD51C):c.904+5G>T rs587782702
NM_058216.3(RAD51C):c.905-2A>C rs779582317
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995
NM_058216.3(RAD51C):c.905-2del rs876658652
NM_058216.3(RAD51C):c.905-3_906del rs730881941
NM_058216.3(RAD51C):c.965+5G>A rs774586107
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter) rs1555605074
NM_058243.2(BRD4):c.1550A>C (p.Gln517Pro) rs1555737887
NM_078480.3(PUF60):c.478_479del (p.Met160fs) rs1554643473
NM_078629.4(MSL3):c.1208del (p.Pro403fs) rs1555907215
NM_080679.2(COL11A2):c.1947+1G>T rs797044915
NM_130466.4(UBE3B):c.2990G>C (p.Arg997Pro) rs539407162
NM_130811.3(SNAP25):c.142G>T (p.Val48Phe) rs797044873
NM_130838.3(UBE3A):c.1633G>A (p.Gly545Arg) rs587781233
NM_133379.5(TTN):c.10303+2T>C rs371596417
NM_138370.3(PKDCC):c.639+1G>T rs763243200
NM_138370.3(PKDCC):c.651C>A (p.Tyr217Ter) rs761532715
NM_138576.4(BCL11B):c.238C>T (p.Gln80Ter) rs1555384301
NM_138576.4(BCL11B):c.721C>T (p.Gln241Ter) rs1314314373
NM_138927.3(SON):c.5038G>T (p.Glu1680Ter) rs1555899242
NM_138927.3(SON):c.5717_5720del (p.Arg1906fs) rs1382415023
NM_139276.2(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_144573.3(NEXN):c.1918_1922del (p.Tyr640fs) rs1222794437
NM_144573.3(NEXN):c.1946_1948GAG[1] (p.Gly650del) rs397517853
NM_144573.3(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197
NM_144773.3(PROKR2):c.58del (p.His20fs) rs587777834
NM_144997.7(FLCN):c.1176+1G>T rs1555607929
NM_144997.7(FLCN):c.1433-2A>G rs398124528
NM_144997.7(FLCN):c.1584del (p.Glu530fs) rs1131690827
NM_145167.3(PIGM):c.2T>C (p.Met1Thr) rs776715594
NM_152268.4(PARS2):c.865C>T (p.Gln289Ter) rs1553183771
NM_152296.5(ATP1A3):c.1124G>A (p.Arg375His) rs200891944
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2323C>A (p.Pro775Thr) rs1555859593
NM_152296.5(ATP1A3):c.971A>G (p.Glu324Gly) rs797044897
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274
NM_152558.5(IQCE):c.1333C>T (p.Arg445Ter) rs753670589
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg) rs754706111
NM_152756.5(RICTOR):c.4346del (p.Asn1449fs) rs1554059320
NM_152778.3(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235
NM_152778.3(MFSD8):c.554-2A>T rs1560747815
NM_152778.3(MFSD8):c.754+1G>T
NM_153033.4(KCTD7):c.145-2A>G rs1554397774
NM_153033.4(KCTD7):c.190A>G (p.Thr64Ala) rs201296399
NM_153033.4(KCTD7):c.754C>G (p.Leu252Val) rs200652879
NM_153240.5(NPHP3):c.1920T>G (p.Asp640Glu) rs869312915
NM_153704.5(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727
NM_153704.5(TMEM67):c.370G>A (p.Glu124Lys) rs375824494
NM_153704.5(TMEM67):c.725A>G (p.Asn242Ser) rs775883520
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.4(LMNA):c.1608+5G>A rs267607539
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.513+2T>G rs1553264668
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906
NM_170707.4(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_170707.4(LMNA):c.82C>G (p.Arg28Gly) rs59914820
NM_170731.5(BDNF):c.526G>T (p.Glu176Ter) rs1554931219
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_172107.4(KCNQ2):c.2594_2598TGGGC[3] (p.Arg871fs) rs1555850151
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly) rs1555873985
NM_172107.4(KCNQ2):c.584C>T (p.Ser195Phe) rs1568940442
NM_172107.4(KCNQ2):c.693G>C (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.839A>G (p.Tyr280Cys) rs1568927820
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly) rs1555869758
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg) rs730882175
NM_172362.3(KCNH1):c.1705G>A (p.Val569Met) rs1553344875
NM_173591.3(OTOGL):c.3186+1G>A rs370730786
NM_173659.4(RPUSD3):c.670C>T (p.Arg224Cys) rs767103943
NM_173659.4(RPUSD3):c.748C>T (p.His250Tyr) rs142932960
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521
NM_177438.2(DICER1):c.2041-2A>G rs1131691204
NM_177438.2(DICER1):c.4050+1G>A rs875989783
NM_177438.2(DICER1):c.5364+1G>A rs1131691227
NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln) rs869312845
NM_177559.3(CSNK2A1):c.529G>A (p.Gly177Ser) rs1555762734
NM_182641.4(BPTF):c.2366del (p.Asn789fs) rs1555639076
NM_182925.5(FLT4):c.3391G>A (p.Gly1131Ser) rs1554109707
NM_183357.2(ADCY5):c.1312dup (p.Arg438fs) rs1553732126
NM_183357.2(ADCY5):c.1646+1G>A rs746547282
NM_183357.2(ADCY5):c.409_428del (p.Gly137fs) rs1553751262
NM_194292.3(SASS6):c.1186dup (p.Thr396fs) rs1193888919
NM_198173.3(GRHL3):c.1795C>G (p.Leu599Val) rs797044857
NM_198407.2(GHSR):c.611C>A (p.Ala204Glu) rs121917883
NM_198903.2(GABRG2):c.1147T>C (p.Phe383Leu) rs1554100923
NM_198965.2(PTHLH):c.524+2T>C rs1555124505
NM_201266.2(NRP2):c.2118del (p.Val707fs) rs779617179
NM_205768.2(ZBTB18):c.1030_1034GATGA[1] (p.Glu345fs) rs1553270522
NM_205768.2(ZBTB18):c.1118del (p.Ser373fs) rs875989785
NM_205768.2(ZBTB18):c.1183C>T (p.Gln395Ter) rs875989786
NM_205768.2(ZBTB18):c.1382A>G (p.Asn461Ser) rs797044885
NM_206933.2(USH2A):c.9055+1delG rs1553268563
NM_206933.3(USH2A):c.10403C>T (p.Pro3468Leu) rs1553261476
NM_206933.3(USH2A):c.2299del (p.Glu767fs) rs80338903

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