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: 2764
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HGVS dbSNP
NC_000004.11:g.15589466_15589468delGAA rs794729225
NM_000026.4(ADSL):c.-49T>C
NM_000033.4(ABCD1):c.1010A>G (p.Tyr337Cys)
NM_000038.6(APC):c.1312+1G>T rs863225310
NM_000038.6(APC):c.1312+3A>C 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.1613A>T (p.Glu538Val) rs1561555761
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.1744-4C>G rs772745309
NM_000038.6(APC):c.1902T>G (p.Ser634Arg) rs876659460
NM_000038.6(APC):c.1956C>T (p.His652=) rs1064793716
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.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.6(APC):c.3083G>A (p.Ser1028Asn) rs1114167617
NM_000038.6(APC):c.3083G>T (p.Ser1028Ile) 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.423-3_423-2del rs863225354
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.531+3A>C rs1114167550
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.8099_8102del (p.Asn2700fs) rs1580690024
NM_000038.6(APC):c.834G>A (p.Gln278=) rs1060503261
NM_000038.6(APC):c.835-17A>G rs1580511131
NM_000038.6(APC):c.8425dup (p.Val2809fs) rs1580693467
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>G rs1057517559
NM_000038.6(APC):c.933+829A>G rs1580516055
NM_000046.5(ARSB):c.730C>A (p.Pro244Thr)
NM_000051.3(ATM):c.1066-1G>A rs876660038
NM_000051.3(ATM):c.1066-3_1072del rs1591517089
NM_000051.3(ATM):c.1235G>A (p.Trp412Ter) rs587779813
NM_000051.3(ATM):c.1547T>C (p.Leu516Ser) rs786202195
NM_000051.3(ATM):c.1608-1G>A rs1565385010
NM_000051.3(ATM):c.186-1G>A rs1259911051
NM_000051.3(ATM):c.1899-1G>T rs1555073065
NM_000051.3(ATM):c.2250+2T>C rs1555075037
NM_000051.3(ATM):c.2251-1G>C rs876659710
NM_000051.3(ATM):c.2251-4A>G rs786202935
NM_000051.3(ATM):c.2376+1G>C rs730881347
NM_000051.3(ATM):c.2377-2A>G rs1057516553
NM_000051.3(ATM):c.2467-2A>T rs1555082050
NM_000051.3(ATM):c.2638+1del 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.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.3(ATM):c.3077+1G>A rs192810283
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.3994-159A>G rs864622543
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.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.5178-1G>A rs1555105579
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.5675-3C>G rs876658545
NM_000051.3(ATM):c.5762+1G>A rs869312756
NM_000051.3(ATM):c.5763-2A>C rs876659489
NM_000051.3(ATM):c.5763-2A>G rs876659489
NM_000051.3(ATM):c.5825C>T (p.Ala1942Val) rs730881394
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.6096-2A>G rs1057520704
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6572+1G>A rs587779856
NM_000051.3(ATM):c.6573-2A>G rs751168951
NM_000051.3(ATM):c.662+1G>A rs1060501690
NM_000051.3(ATM):c.6652A>C (p.Ser2218Arg) rs749261367
NM_000051.3(ATM):c.6807G>A (p.Gln2269=) rs587780638
NM_000051.3(ATM):c.6975+1G>T rs1565521129
NM_000051.3(ATM):c.6975+2T>C rs879254199
NM_000051.3(ATM):c.6976-1G>T rs1591141963
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.7219T>C (p.Ser2407Pro) rs1565526951
NM_000051.3(ATM):c.73-1G>A rs1555054043
NM_000051.3(ATM):c.73-3C>G rs1555054039
NM_000051.3(ATM):c.7307G>A (p.Arg2436Lys) rs786203394
NM_000051.3(ATM):c.7308-1G>C rs1555122941
NM_000051.3(ATM):c.7308-2A>C rs1555122938
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+1G>A rs1565532703
NM_000051.3(ATM):c.7629+2T>C rs786203059
NM_000051.3(ATM):c.7630-2A>G rs587779866
NM_000051.3(ATM):c.7865C>T (p.Ala2622Val) rs766351395
NM_000051.3(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.3(ATM):c.7928-1G>A rs1555126163
NM_000051.3(ATM):c.7997C>A (p.Thr2666Asn) rs730881384
NM_000051.3(ATM):c.8010+1del rs876659350
NM_000051.3(ATM):c.8011-1G>C rs1555127017
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.8416_8418+5del rs1591249480
NM_000051.3(ATM):c.8418+2T>C rs1060501713
NM_000051.3(ATM):c.8418+5G>A rs1305740166
NM_000051.3(ATM):c.8419-1G>C rs1555137920
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.8584+1G>A rs876658182
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.8786_8786+3del rs1060501569
NM_000051.3(ATM):c.8850+1G>A rs1555143620
NM_000051.3(ATM):c.8850+2T>C rs1555143623
NM_000051.3(ATM):c.901+1G>C rs748840480
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1514T>C (p.Phe505Ser) rs1555071109
NM_000051.4(ATM):c.2149C>A (p.Arg717=) rs147515380
NM_000051.4(ATM):c.2466+1552G>C rs963653732
NM_000051.4(ATM):c.2639-19_2639-7del rs1591593439
NM_000051.4(ATM):c.3065T>G (p.Ile1022Ser) rs1591604769
NM_000051.4(ATM):c.3154-1G>T rs1555085973
NM_000051.4(ATM):c.3577-2A>G rs887358871
NM_000051.4(ATM):c.5178-1G>T rs1555105579
NM_000051.4(ATM):c.5918+1G>T rs1591746871
NM_000051.4(ATM):c.6006G>A (p.Gln2002=) rs1591759073
NM_000051.4(ATM):c.6348-1G>C rs1057517302
NM_000051.4(ATM):c.6573-1G>A rs1591128291
NM_000051.4(ATM):c.6573-1G>C rs1591128291
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer) rs1591129041
NM_000051.4(ATM):c.7515+1G>A rs1591161831
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del) rs876660743
NM_000051.4(ATM):c.8151+1G>C rs1591192583
NM_000051.4(ATM):c.8151G>A (p.Lys2717=) rs1591192550
NM_000051.4(ATM):c.8152-18T>G rs1591197705
NM_000051.4(ATM):c.8671+2T>G rs1057516229
NM_000051.4(ATM):c.902-1G>A rs1064793518
NM_000051.4(ATM):c.9022C>A (p.Arg3008Ser) rs587782292
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894
NM_000053.4(ATP7B):c.1285+5G>T rs370579582
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.2015A>G (p.Gln672Arg) rs747281324
NM_000057.4(BLM):c.2075-1G>A rs1231598990
NM_000057.4(BLM):c.2193+1G>A rs865866188
NM_000057.4(BLM):c.2193+1G>T rs865866188
NM_000057.4(BLM):c.2308-2A>G rs1248548542
NM_000057.4(BLM):c.2556-2A>G rs1596250255
NM_000057.4(BLM):c.3210+2del rs587779886
NM_000057.4(BLM):c.3558+1G>T rs148969222
NM_000057.4(BLM):c.3875-2A>G rs150421256
NM_000057.4(BLM):c.98+1G>C rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380
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.425+2T>C rs876661045
NM_000059.3(BRCA2):c.425+3A>G rs932657676
NM_000059.3(BRCA2):c.425G>A (p.Ser142Asn) rs397507713
NM_000059.3(BRCA2):c.475+4del rs276174848
NM_000059.3(BRCA2):c.476-4_476-1delinsT rs587782880
NM_000059.3(BRCA2):c.516G>A (p.Lys172=) rs80359790
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.632-3C>G rs568027879
NM_000059.3(BRCA2):c.68-1G>A rs1060502376
NM_000059.3(BRCA2):c.68-1G>T rs1060502376
NM_000059.3(BRCA2):c.68-3T>G rs786201770
NM_000059.3(BRCA2):c.681+4A>G rs397507884
NM_000059.3(BRCA2):c.6938-1G>A rs886040936
NM_000059.3(BRCA2):c.6938-2A>G rs81002863
NM_000059.3(BRCA2):c.7007+5G>A rs81002816
NM_000059.3(BRCA2):c.7435+2T>C rs1434072252
NM_000059.3(BRCA2):c.7436-2_7437del rs876659229
NM_000059.3(BRCA2):c.7786G>A (p.Gly2596Arg) rs398122591
NM_000059.3(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.3(BRCA2):c.7857G>C (p.Trp2619Cys) rs80359011
NM_000059.3(BRCA2):c.7880T>A (p.Ile2627Asn) rs876658736
NM_000059.3(BRCA2):c.793+1G>C rs81002846
NM_000059.3(BRCA2):c.793+1G>T rs81002846
NM_000059.3(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.3(BRCA2):c.7977-4_7977-3del rs876659992
NM_000059.3(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.3(BRCA2):c.8059G>T (p.Val2687Phe) rs80359044
NM_000059.3(BRCA2):c.8162T>A (p.Leu2721His) rs80359061
NM_000059.3(BRCA2):c.8167G>A (p.Asp2723Asn) rs41293511
NM_000059.3(BRCA2):c.8169T>A (p.Asp2723Glu) rs1060502432
NM_000059.3(BRCA2):c.8171G>T (p.Gly2724Val) rs80359063
NM_000059.3(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066
NM_000059.3(BRCA2):c.8331+2T>G rs398122602
NM_000059.3(BRCA2):c.8332-2A>G rs587782774
NM_000059.3(BRCA2):c.8342A>T (p.Asn2781Ile) rs1434821822
NM_000059.3(BRCA2):c.8351G>T (p.Arg2784Leu) rs80359076
NM_000059.3(BRCA2):c.8362T>C (p.Trp2788Arg) rs80359079
NM_000059.3(BRCA2):c.8363G>C (p.Trp2788Ser) rs80359080
NM_000059.3(BRCA2):c.8375T>C (p.Leu2792Pro) rs28897751
NM_000059.3(BRCA2):c.8375T>G (p.Leu2792Arg) rs28897751
NM_000059.3(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.3(BRCA2):c.8384_8395del (p.Phe2795_Arg2799delinsTer) rs587781689
NM_000059.3(BRCA2):c.8488-1G>T rs397507404
NM_000059.3(BRCA2):c.8488-1_8496delinsCT 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.8755-1G>C rs81002812
NM_000059.3(BRCA2):c.8755-9T>A rs397507413
NM_000059.3(BRCA2):c.8954-3C>G rs81002844
NM_000059.3(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del) rs80359736
NM_000059.3(BRCA2):c.9117+1del rs869320801
NM_000059.3(BRCA2):c.9257-1G>A rs81002889
NM_000059.3(BRCA2):c.9257-2A>G rs886040954
NM_000059.3(BRCA2):c.9501+1G>T rs397508058
NM_000059.3(BRCA2):c.9502-2A>C rs81002868
NM_000059.3(BRCA2):c.9649-1G>C rs1555289898
NM_000059.4(BRCA2):c.1910-1_1914del rs1593895760
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.475+2T>C rs1555280966
NM_000059.4(BRCA2):c.517-2A>G rs81002858
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.67+3A>G rs1593880835
NM_000059.4(BRCA2):c.68-2A>G rs769152395
NM_000059.4(BRCA2):c.681+2dup rs587781486
NM_000059.4(BRCA2):c.682-1G>C rs81002831
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7008-1G>A rs786204280
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.793+1G>A rs81002846
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.4(BRCA2):c.8331+2T>C rs398122602
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104
NM_000059.4(BRCA2):c.8754+1del rs1593935041
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=) rs80359803
NM_000059.4(BRCA2):c.8755-2A>G rs1566252482
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000077.4(CDKN2A):c.104G>C (p.Gly35Ala) rs746834149
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.149A>G (p.Gln50Arg) rs587778189
NM_000077.4(CDKN2A):c.151-2A>G rs1554654224
NM_000077.4(CDKN2A):c.159G>A (p.Met53Ile) rs104894095
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.194T>C (p.Leu65Pro) rs1587332314
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.251A>C (p.Asp84Ala) rs587782792
NM_000077.4(CDKN2A):c.259C>T (p.Arg87Trp) rs749714198
NM_000077.4(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.4(CDKN2A):c.296G>C (p.Arg99Pro) rs754806883
NM_000077.4(CDKN2A):c.322G>A (p.Asp108Asn) rs121913381
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.379G>C (p.Ala127Pro) rs6413464
NM_000077.4(CDKN2A):c.457+1_457+10del rs1587330284
NM_000077.4(CDKN2A):c.67G>A (p.Gly23Ser) rs1131691186
NM_000077.4(CDKN2A):c.67G>C (p.Gly23Arg) rs1131691186
NM_000077.4(CDKN2A):c.67G>T (p.Gly23Cys) rs1131691186
NM_000077.4(CDKN2A):c.68G>A (p.Gly23Asp) rs1064794292
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.1241G>A (p.Gly414Asp) rs794728044
NM_000090.3(COL3A1):c.1303G>A (p.Gly435Ser) rs886038952
NM_000090.3(COL3A1):c.1303G>T (p.Gly435Cys) rs886038952
NM_000090.3(COL3A1):c.1421G>T (p.Gly474Val) rs1553507991
NM_000090.3(COL3A1):c.1727G>A (p.Gly576Asp) rs886038853
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.1987G>A (p.Gly663Ser) rs587779433
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.674G>C (p.Gly225Ala) rs587779533
NM_000090.3(COL3A1):c.898-2A>G rs1553507574
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000096.4(CP):c.583G>A (p.Gly195Arg) rs750451693
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000113.3(TOR1A):c.961del (p.Thr321fs)
NM_000124.4(ERCC6):c.1397+1G>C rs1554793174
NM_000124.4(ERCC6):c.2058G>C (p.Trp686Cys) rs751292948
NM_000132.3(F8):c.6089G>A (p.Ser2030Asn) rs369414658
NM_000132.3(F8):c.7031G>A (p.Gly2344Asp) rs1557271042
NM_000133.3(F9):c.1115T>C (p.Leu372Pro) rs1556008584
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.522-1G>C rs1014112491
NM_000136.3(FANCC):c.686+1G>C rs1057517125
NM_000136.3(FANCC):c.843+5G>A rs369082921
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_000136.3(FANCC):c.997-1G>A rs1588070986
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.2375G>T (p.Cys792Phe) rs886038984
NM_000138.4(FBN1):c.2419+1G>A rs1555399257
NM_000138.4(FBN1):c.2463C>G (p.Cys821Trp) rs1555399205
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.408C>G (p.Cys136Trp) rs1555405039
NM_000138.4(FBN1):c.4243T>C (p.Cys1415Arg) rs1555397557
NM_000138.4(FBN1):c.4331G>A (p.Cys1444Tyr) rs886038940
NM_000138.4(FBN1):c.433T>C (p.Cys145Arg) rs1555405031
NM_000138.4(FBN1):c.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.5155T>C (p.Cys1719Arg) rs886038838
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.5967T>G (p.Cys1989Trp) rs1555395652
NM_000138.4(FBN1):c.5999G>A (p.Cys2000Tyr) rs1555395645
NM_000138.4(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6430A>C (p.Asn2144His) rs886038943
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.6751T>A (p.Cys2251Ser) rs112836174
NM_000138.4(FBN1):c.6773G>A (p.Cys2258Tyr) rs886039047
NM_000138.4(FBN1):c.6904T>A (p.Cys2302Ser) rs886039092
NM_000138.4(FBN1):c.6991T>A (p.Cys2331Ser) rs886038894
NM_000138.4(FBN1):c.7363T>C (p.Cys2455Arg) rs886038930
NM_000138.4(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
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.7742G>T (p.Cys2581Phe) rs1555394149
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.4(FBN1):c.7865G>A (p.Cys2622Tyr) rs1555393880
NM_000138.4(FBN1):c.7897T>C (p.Cys2633Arg) rs1555393871
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.8014T>G (p.Cys2672Gly) rs1555393833
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr) rs397515805
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000141.5(FGFR2):c.1991G>A (p.Arg664Gln) rs1554907364
NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu) rs77543610
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.1094G>A (p.Ser365Asn) rs1131691238
NM_000143.3(FH):c.1097G>A (p.Ser366Asn) rs863224004
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.1268T>G (p.Leu423Arg) rs863224009
NM_000143.3(FH):c.1301G>A (p.Cys434Tyr) rs398123164
NM_000143.3(FH):c.1500G>A (p.Trp500Ter) rs886039368
NM_000143.3(FH):c.194A>G (p.Asp65Gly) rs145116688
NM_000143.3(FH):c.349G>C (p.Ala117Pro) rs886039363
NM_000143.3(FH):c.378+2T>C rs1131691241
NM_000143.3(FH):c.404A>G (p.His135Arg) rs786202833
NM_000143.3(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.3(FH):c.478A>G (p.Arg160Gly) rs878853694
NM_000143.3(FH):c.539A>G (p.His180Arg) rs863224015
NM_000143.3(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.3(FH):c.700A>G (p.Thr234Ala) rs372505976
NM_000143.3(FH):c.786_806del (p.Lys263_Ile269del) rs786202220
NM_000143.3(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.3(FH):c.905-1G>C rs797044973
NM_000143.3(FH):c.923C>G (p.Ala308Gly) rs1057524385
NM_000143.3(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.3(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000143.3(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000143.3(FH):c.988A>C (p.Thr330Pro) rs776313200
NM_000143.4(FH):c.1202G>A (p.Gly401Glu) rs1573879289
NM_000143.4(FH):c.1237-1G>T rs1573878149
NM_000143.4(FH):c.1390+1G>T rs886039367
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.275TTA[1] (p.Ile93del) rs1573886490
NM_000143.4(FH):c.378G>C (p.Glu126Asp) rs1573886367
NM_000143.4(FH):c.425A>G (p.Gln142Arg) rs1573885503
NM_000143.4(FH):c.431G>A (p.Gly144Glu) rs1057521425
NM_000143.4(FH):c.557G>A rs587782618
NM_000143.4(FH):c.575C>T (p.Pro192Leu) rs1573883342
NM_000143.4(FH):c.591TGC[2] (p.Ala200del) rs786202907
NM_000143.4(FH):c.653T>G (p.Leu218Arg) rs1553341345
NM_000143.4(FH):c.842C>T (p.Thr281Ile) rs1573881633
NM_000143.4(FH):c.914T>C (p.Phe305Ser) rs1439046582
NM_000144.5(FXN):c.11_12del (p.Leu4fs) rs143232208
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955
NM_000156.6(GAMT):c.59G>T (p.Trp20Leu) rs80338734
NM_000157.4(GBA):c.1534A>T (p.Lys512Ter)
NM_000158.4(GBE1):c.1064G>A (p.Arg355His) rs869312919
NM_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545
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_000165.5(GJA1):c.604C>T (p.Arg202Cys) rs765192739
NM_000165.5(GJA1):c.75G>C (p.Trp25Cys)
NM_000166.6(GJB1):c.160A>C (p.Asn54His)
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.1621A>C (p.Ser541Arg) rs587779778
NM_000179.2(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.2(MSH6):c.2295C>G (p.Cys765Trp) rs63750985
NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.2(MSH6):c.2559G>C (p.Lys853Asn) rs765873566
NM_000179.2(MSH6):c.260+1G>C rs1553408467
NM_000179.2(MSH6):c.260+2_260+3delinsAG 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.3172G>C (p.Asp1058His) rs863225404
NM_000179.2(MSH6):c.3173-1G>A rs397515875
NM_000179.2(MSH6):c.3173-1_3173del 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.3227G>A (p.Arg1076His) rs779617676
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.3431T>G (p.Met1144Arg) rs864622607
NM_000179.2(MSH6):c.3438+2T>C rs1033749344
NM_000179.2(MSH6):c.3439-2A>T rs267608098
NM_000179.2(MSH6):c.3452C>A (p.Ala1151Asp) rs587782625
NM_000179.2(MSH6):c.3485C>A (p.Ala1162Asp) rs587779935
NM_000179.2(MSH6):c.3556+1del 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.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.2(MSH6):c.3646+2T>C rs1553332776
NM_000179.2(MSH6):c.3646G>A (p.Gly1216Arg) rs1114167690
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.3801+1G>T rs876660943
NM_000179.2(MSH6):c.3801+2T>C rs1558392617
NM_000179.2(MSH6):c.3802-7_3802-4del rs876661171
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.4004_4007dup (p.Cys1337fs) rs876658497
NM_000179.2(MSH6):c.4053_4081dup (p.Ter1361Leufs)
NM_000179.2(MSH6):c.628-2A>G rs1114167725
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) rs1064793600
NM_000179.3(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.3172+1G>C rs587779255
NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del) rs63751427
NM_000179.3(MSH6):c.3556+4_3556+8del rs1572739119
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val) rs182024561
NM_000179.3(MSH6):c.3691GTT[1] (p.Val1232del) rs587779284
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285
NM_000179.3(MSH6):c.3724_3726del rs63749942
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del) rs876658650
NM_000179.3(MSH6):c.3851_3871del (p.Thr1284_Ile1290del) rs1572746651
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000194.3(HPRT1):c.148G>C (p.Ala50Pro) rs1556026984
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter)
NM_000206.3(IL2RG):c.667G>T (p.Val223Phe)
NM_000217.3(KCNA1):c.1213C>G (p.Pro405Ala)
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
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_000226.4(KRT9):c.488G>A (p.Arg163Gln) rs57758262
NM_000238.3(KCNH2):c.3125T>C (p.Leu1042Pro) rs886039064
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538
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.108_122del (p.Leu37_Leu41del) rs1555166695
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.135G>C (p.Glu45Asp) rs778670301
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.529G>T (p.Asp177Tyr) rs1114167494
NM_000244.3(MEN1):c.530A>T (p.Asp177Val) rs794728618
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.928-1G>A rs1057518572
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.1024_1038+1del rs1553648201
NM_000249.3(MLH1):c.109G>C (p.Glu37Gln) rs63751012
NM_000249.3(MLH1):c.115T>C (p.Cys39Arg) rs587778890
NM_000249.3(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
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.1410-2A>G rs746536721
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1559-1G>C rs267607837
NM_000249.3(MLH1):c.1652A>C (p.Asn551Thr) rs63750271
NM_000249.3(MLH1):c.1667+1del rs1553658246
NM_000249.3(MLH1):c.1667+2T>C rs878853780
NM_000249.3(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.3(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.3(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.3(MLH1):c.1937A>C (p.Tyr646Ser) rs35045067
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.1984A>C (p.Thr662Pro) rs587778964
NM_000249.3(MLH1):c.1989+2T>C rs1553664119
NM_000249.3(MLH1):c.2041G>C (p.Ala681Pro) rs63750217
NM_000249.3(MLH1):c.2048T>C (p.Phe683Ser) rs587778972
NM_000249.3(MLH1):c.207+5G>C rs587781518
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.2253del (p.Val752fs) rs267607901
NM_000249.3(MLH1):c.2259del (p.Phe753fs) rs1060500698
NM_000249.3(MLH1):c.27G>A (p.Arg9=) rs759680369
NM_000249.3(MLH1):c.292G>C (p.Gly98Arg) rs267607725
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.344T>A (p.Ile115Asn) rs764120517
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.453+1G>T rs267607750
NM_000249.3(MLH1):c.454-13A>G rs267607749
NM_000249.3(MLH1):c.543C>T (p.Gly181=) rs1481129490
NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.3(MLH1):c.581T>G (p.Val194Gly) rs876658962
NM_000249.3(MLH1):c.677+3A>T rs267607780
NM_000249.3(MLH1):c.678-3T>A rs267607785
NM_000249.3(MLH1):c.69A>T (p.Glu23Asp) rs63750555
NM_000249.3(MLH1):c.790+1G>T rs267607789
NM_000249.3(MLH1):c.790+4A>C rs267607786
NM_000249.3(MLH1):c.790+4A>G rs267607786
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_000249.3(MLH1):c.977T>A (p.Val326Glu) rs63751049
NM_000249.3:c.(1667+1_1668-1)_(1731+1_1732-1)dup
NM_000249.3:c.(545+1_546-1)_(1558+1_1559-1)dup
NM_000249.4(MLH1):c.1558+2T>C rs267607831
NM_000249.4(MLH1):c.1558_1558+1delinsAA rs1575554246
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.203T>G (p.Ile68Ser) rs63750281
NM_000249.4(MLH1):c.2219del (p.Ile740fs) rs1575640960
NM_000249.4(MLH1):c.2248_2249del (p.Tyr750fs) rs786202326
NM_000249.4(MLH1):c.242CTA[1] (p.Thr82del) rs786202328
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.4(MLH1):c.380G>C (p.Arg127Thr) rs63751595
NM_000249.4(MLH1):c.95T>A (p.Ile32Asn) rs1575377175
NM_000251.1:c.(366+1_367-1)_(1076+1_1077-1)dup
NM_000251.2(MSH2):c.1012G>C (p.Gly338Arg) rs63751004
NM_000251.2(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000251.2(MSH2):c.1227_1238del (p.Gly410_Gln413del) rs1573485191
NM_000251.2(MSH2):c.1277-1G>C rs267607948
NM_000251.2(MSH2):c.1355A>T (p.Glu452Val) rs1553361274
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1660A>G (p.Ser554Gly) rs63751656
NM_000251.2(MSH2):c.1661+5G>C rs267607972
NM_000251.2(MSH2):c.1667T>C (p.Leu556Ser) rs587779101
NM_000251.2(MSH2):c.1759+2T>C rs267607976
NM_000251.2(MSH2):c.1759G>A (p.Gly587Ser) rs63751140
NM_000251.2(MSH2):c.1861C>G (p.Arg621Gly) rs63750508
NM_000251.2(MSH2):c.1862G>T (p.Arg621Leu) rs759263820
NM_000251.2(MSH2):c.1864C>A (p.Pro622Thr) rs63750280
NM_000251.2(MSH2):c.1865C>G (p.Pro622Arg) rs28929483
NM_000251.2(MSH2):c.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.2039G>C (p.Arg680Pro) rs1203462814
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.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.2251G>C (p.Gly751Arg) rs63751119
NM_000251.2(MSH2):c.2458+1G>T rs267608010
NM_000251.2(MSH2):c.2458+2T>C rs1278858560
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.792+2T>C rs587782408
NM_000251.2(MSH2):c.929T>C (p.Leu310Pro) rs63750640
NM_000251.2(MSH2):c.942+3A>G rs193922376
NM_000251.2(MSH2):c.942G>T (p.Gln314His) rs587779197
NM_000251.2(MSH2):c.997T>C (p.Cys333Arg) rs63750468
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg) rs879254234
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del) rs587779082
NM_000251.3(MSH2):c.1510+1G>A rs1114167852
NM_000251.3(MSH2):c.1760-2A>G rs1573566175
NM_000251.3(MSH2):c.1812TGT[1] (p.Val606del) rs267607978
NM_000251.3(MSH2):c.2020G>A (p.Gly674Ser) rs63750234
NM_000251.3(MSH2):c.2210+1G>T rs267608002
NM_000251.3(MSH2):c.2320A>G rs775464903
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2740del (p.Glu914fs) rs1573582750
NM_000251.3(MSH2):c.597T>G (p.Cys199Trp) rs1573441776
NM_000252.2(MTM1):c.1132G>A (p.Gly378Arg) rs587783755
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
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.2737+5G>A rs398123280
NM_000256.3(MYBPC3):c.3330+1G>T rs1298025872
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3491-2A>C rs397516022
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
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.1370T>C (p.Ile457Thr) rs397516103
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.2080C>T (p.Arg694Cys) rs727504240
NM_000257.4(MYH7):c.2081G>A (p.Arg694His) rs886039030
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.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2573G>C (p.Arg858Pro) rs2856897
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro) rs727504356
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.3347AGGAGCTGGAGG[3] (p.1116EELE[3]) rs1064792935
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.4145G>A (p.Arg1382Gln) rs727504325
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys) rs876657884
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.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.815G>C (p.Arg272Thr) rs1555338578
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000264.5(PTCH1):c.1068-1G>T rs1085307752
NM_000264.5(PTCH1):c.1216-1G>A rs1564051834
NM_000264.5(PTCH1):c.1462T>C (p.Cys488Arg) rs1131690999
NM_000264.5(PTCH1):c.201+1G>A rs1131690967
NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup) rs1588568813
NM_000264.5(PTCH1):c.2887+2T>C
NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg) rs1588528637
NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro) rs1131690989
NM_000264.5(PTCH1):c.3440T>C (p.Phe1147Ser) rs1131690990
NM_000264.5(PTCH1):c.3499G>A (p.Gly1167Arg) rs1131690985
NM_000264.5(PTCH1):c.3549+1G>A
NM_000264.5(PTCH1):c.945+5G>A rs1588609575
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.128T>C (p.Leu43Pro) rs1555604899
NM_000267.3(NF1):c.1393-1G>T rs1131691131
NM_000267.3(NF1):c.1527+2dup rs1597698533
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.2125T>C (p.Cys709Arg) rs1131691095
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.2542G>C (p.Gly848Arg) rs1060500368
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.3610C>T (p.Arg1204Trp) rs199474732
NM_000267.3(NF1):c.3974G>C (p.Arg1325Thr) rs863224447
NM_000267.3(NF1):c.3974G>T (p.Arg1325Met) rs863224447
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.4278G>C (p.Gln1426His) rs876660206
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.5248A>G (p.Lys1750Glu) rs1131691103
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.60+2del rs1131691101
NM_000267.3(NF1):c.654+1G>T rs1060500245
NM_000267.3(NF1):c.6579+18A>G rs1555534893
NM_000267.3(NF1):c.6622T>C (p.Trp2208Arg) rs1060500342
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_000268.4(NF2):c.516+1G>T
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr)
NM_000271.5(NPC1):c.3754+1del
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.499G>A (p.Val167Met)
NM_000284.4(PDHA1):c.616G>C (p.Glu206Gln) rs1555934336
NM_000302.4(PLOD1):c.1471-2A>G rs1401035675
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100
NM_000314.4:c.(164+1_165-1)_(634+1_635-1)dup
NM_000314.7(PTEN):c.1026+1G>A 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>A (p.Asn48Lys) rs762518389
NM_000314.7(PTEN):c.144C>G (p.Asn48Lys) rs762518389
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.283C>A (p.Pro95Thr) rs1114167630
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.379G>A (p.Gly127Arg) rs587781255
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>A (p.Gly132Asp) rs121909241
NM_000314.7(PTEN):c.395G>T (p.Gly132Val) rs121909241
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.512A>G (p.Gln171Arg) rs786204865
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.634+2_634+3insC rs1554900673
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.764T>A (p.Val255Glu) rs1564566998
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_000314.8(PTEN):c.1137T>G (p.Tyr379Ter) rs1295420243
NM_000314.8(PTEN):c.157GTA[1] (p.Val54del) rs1554893831
NM_000314.8(PTEN):c.209+2T>G rs878853937
NM_000314.8(PTEN):c.210-2A>C rs1564828914
NM_000314.8(PTEN):c.370T>A (p.Cys124Ser) rs121909223
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.526TAT[2] (p.Tyr178del) rs587780711
NM_000314.8(PTEN):c.542T>C (p.Leu181Pro) rs1589659492
NM_000314.8(PTEN):c.634+1G>A rs1114167622
NM_000314.8(PTEN):c.634+3_634+6del rs1589659775
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.80-5_82del rs1589617114
NM_000314.8(PTEN):c.802-1G>T rs1257124719
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.1421G>T (p.Ser474Ile) rs1555286575
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.539+1G>A rs1566187856
NM_000321.2(RB1):c.607+2dup rs1131690895
NM_000321.2(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000321.3(RB1):c.138-1G>A rs1593414337
NM_000325.6(PITX2):c.431G>C (p.Arg144Pro) rs104893859
NM_000328.3(RPGR):c.1905+500_1905+501del rs398122960
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266
NM_000334.4(SCN4A):c.692C>T (p.Thr231Met) rs867587467
NM_000335.4(SCN5A):c.5461_5464del (p.Glu1822fs) rs794728924
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del) rs794728922
NM_000346.4(SOX9):c.247G>C (p.Gly83Arg)
NM_000346.4(SOX9):c.494A>G (p.His165Arg)
NM_000346.4(SOX9):c.507C>G (p.His169Gln) rs2229989
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_000368.5(TSC1):c.363G>T (p.Lys121Asn) rs118203370
NM_000369.5(TSHR):c.1342G>A (p.Val448Ile) rs201889708
NM_000381.4(MID1):c.1342T>C (p.Tyr448His) rs1569270016
NM_000388.4(CASR):c.2531C>T (p.Ala844Val)
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_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu) rs397515616
NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg) rs587784254
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000432.3(MYL2):c.431del (p.Pro144fs) rs786205430
NM_000432.3(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369
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.290+2_290+4del rs1568690546
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_000455.5(STK11):c.711C>A (p.Asp237Glu) rs1057520379
NM_000458.4(HNF1B):c.544+3_544+6del
NM_000465.4(BARD1):c.1314+1G>A rs753785671
NM_000465.4(BARD1):c.1568+2T>C rs1553619196
NM_000465.4(BARD1):c.1569-1G>A rs1574756672
NM_000465.4(BARD1):c.158+1G>C rs1553628351
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1678-1_1678del rs1553615184
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>A rs876660237
NM_000465.4(BARD1):c.1903+1G>T rs876660237
NM_000465.4(BARD1):c.1903+2T>A rs1574737047
NM_000465.4(BARD1):c.1904-2del rs876659560
NM_000465.4(BARD1):c.1934_2001+52del rs1574706516
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>C rs876658260
NM_000465.4(BARD1):c.2002-2A>T rs876658260
NM_000465.4(BARD1):c.216-1G>A rs876658905
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter) rs879253880
NM_000465.4(BARD1):c.2261_2262del (p.Lys754fs) rs1574702099
NM_000465.4(BARD1):c.2268G>A (p.Trp756Ter) rs786202118
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000489.5(ATRX):c.5271G>C (p.Glu1757Asp) rs141240580
NM_000489.5(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000489.5(ATRX):c.740A>G (p.Asn247Ser) rs797044865
NM_000489.6(ATRX):c.6406G>A (p.Asp2136Asn)
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.3(CFTR):c.165-3C>T rs200337193
NM_000492.3(CFTR):c.2909_2924dup
NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.3415A>G (p.Ile1139Val) rs397508556
NM_000492.3(CFTR):c.567C>A (p.Asn189Lys) rs397508755
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000496.3(CRYBB2):c.229G>A (p.Gly77Ser)
NM_000501.4(ELN):c.1357+1G>T rs1554680190
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu) rs1209154325
NM_000516.6(GNAS):c.163A>G (p.Thr55Ala) rs797044895
NM_000516.6(GNAS):c.742G>A (p.Val248Met) rs1555891562
NM_000516.6(GNAS):c.793C>T (p.Arg265Cys) rs1555891595
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg)
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564
NM_000527.5(LDLR):c.190+4A>T rs769446356
NM_000527.5(LDLR):c.302A>G (p.Glu101Gly)
NM_000530.8(MPZ):c.600dup (p.Lys201fs) rs1553259529
NM_000533.5(PLP1):c.696+1G>A
NM_000535.7(PMS2):c.1145-2A>G rs1325835006
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721
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.215G>A (p.Gly72Glu) rs730881915
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg) rs1554304979
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.23+1G>C rs587782074
NM_000535.7(PMS2):c.23+1G>T rs587782074
NM_000535.7(PMS2):c.24-2A>G rs1583419860
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.2531C>A (p.Pro844His) rs587782787
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.353+1G>A rs113517055
NM_000535.7(PMS2):c.353+2T>C rs111466480
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000535.7(PMS2):c.705+1G>A rs267608147
NM_000535.7(PMS2):c.705+1G>T rs267608147
NM_000535.7(PMS2):c.706-2A>C rs745487791
NM_000535.7(PMS2):c.803+5G>A rs939641251
NM_000535.7(PMS2):c.804-1G>A rs1562664845
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_000535.7(PMS2):c.988+1del rs876660075
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_000540.2(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781
NM_000540.2(RYR1):c.9472+1G>A rs776697656
NM_000546.5(TP53):c.1000G>C (p.Gly334Arg) rs730882028
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.1039G>A (p.Ala347Thr) rs1597349147
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.328_339del (p.Arg110_Phe113del) rs587782490
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+1G>A rs1567555445
NM_000546.5(TP53):c.375+1G>T rs1567555445
NM_000546.5(TP53):c.375+2T>A rs1555526469
NM_000546.5(TP53):c.375+2T>G rs1555526469
NM_000546.5(TP53):c.375G>C (p.Thr125=) rs55863639
NM_000546.5(TP53):c.376-2A>G rs786202799
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.413C>T (p.Ala138Val) rs750600586
NM_000546.5(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.5(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.5(TP53):c.434T>C (p.Leu145Pro) rs587782197
NM_000546.5(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.5(TP53):c.464C>A (p.Thr155Asn) rs786202752
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.481G>A (p.Ala161Thr) rs193920817
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.518T>A (p.Val173Glu) rs1057519747
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.534C>A (p.His178Gln) rs1555526001
NM_000546.5(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.5(TP53):c.536A>C (p.His179Pro) rs1057519991
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.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.587G>C (p.Arg196Pro) rs483352697
NM_000546.5(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.5(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.5(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.5(TP53):c.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.695T>C (p.Ile232Thr) rs587781589
NM_000546.5(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.5(TP53):c.701A>C (p.Tyr234Ser) rs587780073
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>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.5(TP53):c.728T>C (p.Met243Thr) rs730882006
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.772G>A (p.Glu258Lys) rs121912652
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.824G>C (p.Cys275Ser) 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.832C>G (p.Pro278Ala) rs17849781
NM_000546.5(TP53):c.832C>T (p.Pro278Ser) rs17849781
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.919+1G>C rs1131691039
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_000546.6(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.451_452delinsTT (p.Pro151Phe) rs1597370899
NM_000546.6(TP53):c.455C>G (p.Pro152Arg) rs587782705
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.6(TP53):c.542G>C (p.Arg181Pro) rs397514495
NM_000546.6(TP53):c.559+2_559+3delinsGT rs1597369390
NM_000546.6(TP53):c.579T>A (p.His193Gln) rs1597368777
NM_000546.6(TP53):c.672G>A (p.Glu224=) rs267605076
NM_000546.6(TP53):c.718A>C (p.Ser240Arg) rs1567549584
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.821T>G rs1057520006
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.920-2A>G rs397516439
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_000548.5(TSC2):c.707T>C (p.Leu236Pro) rs1596278377
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.278_279delinsTT (p.Gly93Val) rs1559426072
NM_000551.3(VHL):c.341-3T>G rs1131690965
NM_000551.3(VHL):c.397A>C (p.Thr133Pro) rs1131690961
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.492G>C (p.Gln164His) rs1352275281
NM_000551.3(VHL):c.506T>C (p.Leu169Pro) rs1131690962
NM_000551.3(VHL):c.533T>C (p.Leu178Pro) rs5030822
NM_000551.3(VHL):c.581T>G (p.Val194Gly) rs1131690963
NM_000551.3(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.226T>A (p.Phe76Ile) rs1559425911
NM_000551.4(VHL):c.291_296del (p.Tyr98_Pro99del) rs1575922271
NM_000551.4(VHL):c.463G>T (p.Val155Leu) rs869025659
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.4(VHL):c.475A>G (p.Lys159Glu) rs1575932011
NM_000551.4(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000552.4(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000687.4(AHCY):c.145C>T (p.Arg49Cys)
NM_000687.4(AHCY):c.257A>G (p.Asp86Gly) rs773162208
NM_000687.4(AHCY):c.293C>T (p.Pro98Leu) rs757966746
NM_000687.4(AHCY):c.473C>T (p.Thr158Met)
NM_000702.4(ATP1A2):c.2810G>A (p.Arg937His) rs1553245943
NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp) rs1467561684
NM_000748.3(CHRNB2):c.139C>T (p.Arg47Cys) rs746480833
NM_000814.6(GABRB3):c.757C>A (p.Pro253Thr)
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.1649T>C (p.Phe550Ser) rs1555112021
NM_000834.4(GRIN2B):c.4015_4016del (p.Met1339fs) rs1565453023
NM_000834.5(GRIN2B):c.2087G>A rs1555103971
NM_000834.5(GRIN2B):c.2776C>T rs1555102536
NM_000868.2:c.1219_1222delTCTG
NM_000891.2(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.2(KCNJ2):c.919A>G (p.Met307Val) rs1555603994
NM_000937.5(POLR2A):c.3367C>G (p.Arg1123Gly)
NM_000937.5(POLR2A):c.3368G>A (p.Arg1123Gln)
NM_000937.5(POLR2A):c.3752A>G (p.Asn1251Ser)
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) rs1553923787
NM_000964.4(RARA):c.827G>A (p.Arg276Gln)
NM_000969.5(RPL5):c.73+1G>A rs1553284965
NM_001001344.2(ATP2B3):c.3338C>T (p.Thr1113Met) rs368215361
NM_001002294.3(FMO3):c.1499G>A (p.Arg500Gln)
NM_001003800.2(BICD2):c.1589T>C (p.Phe530Ser) rs797044920
NM_001003800.2(BICD2):c.2080C>G (p.Arg694Gly)
NM_001005271.3(CHD3):c.3130C>T (p.Arg1044Trp) rs1555611722
NM_001005271.3(CHD3):c.3682C>T (p.Arg1228Trp) rs1567861468
NM_001005271.3(CHD3):c.4202G>A (p.Arg1401Gln) rs1567863732
NM_001005463.3(EBF3):c.196A>G (p.Asn66Asp) rs1057519518
NM_001005463.3(EBF3):c.422A>G (p.Tyr141Cys) rs1057519519
NM_001007228.2(SPOP):c.362G>A (p.Arg121Gln)
NM_001007792.1(NTRK1):c.2098-11G>A rs1553263326
NM_001007792.1(NTRK1):c.481T>C (p.Cys161Arg) rs1026300967
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.842T>C (p.Met281Thr) rs199476321
NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del) rs1064793294
NM_001029896.2(WDR45):c.973+5_973+10del rs1569523436
NM_001031689.3(PLAA):c.1487-1G>A rs1426488816
NM_001031734.4(FDX2):c.12G>T (p.Met4Ile)
NM_001032221.6(STXBP1):c.136A>G (p.Lys46Glu)
NM_001032280.3(TFAP2A):c.743G>A (p.Arg248Gln) rs151344530
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter) rs1602330420
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.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_001037811.2(HSD17B10):c.439C>T (p.Arg147Cys) rs1064794694
NM_001039523.3(CHRNA1):c.880G>T (p.Val294Phe) rs137852803
NM_001040142.2(SCN2A):c.2636G>C (p.Gly879Ala) rs1559376694
NM_001040142.2(SCN2A):c.2936T>G (p.Leu979Trp)
NM_001040142.2(SCN2A):c.408G>A (p.Met136Ile)
NM_001040142.2(SCN2A):c.5265_5268del (p.Phe1755fs)
NM_001040142.2(SCN2A):c.5274T>A (p.Ser1758Arg) rs1553463586
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5737C>T (p.Gln1913Ter) rs1553463850
NM_001040142.2(SCN2A):c.584A>G (p.Asp195Gly)
NM_001040616.3(LINS1):c.2020dup (p.Ser674fs)
NM_001042492.3(NF1):c.1261-19G>A rs1597688663
NM_001042492.3(NF1):c.1527+4_1527+7del rs1555612294
NM_001042492.3(NF1):c.2850_2850+2dup rs1597715874
NM_001042492.3(NF1):c.2984T>C (p.Leu995Pro) rs1597716466
NM_001042492.3(NF1):c.4430+1G>T rs773151680
NM_001042492.3(NF1):c.4724+2T>G rs1597748995
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe) rs1555619407
NM_001042492.3(NF1):c.6007-2_6007del rs1597842196
NM_001042492.3(NF1):c.7169T>G (p.Leu2390Trp) rs1597851443
NM_001042492.3(NF1):c.7968_7970+2delinsACAC rs1597867032
NM_001042492.3(NF1):c.8113+2T>G rs1597868312
NM_001042492.3(NF1):c.8114-1G>C rs1597868727
NM_001042681.2(RERE):c.4293C>A (p.His1431Gln) rs869312871
NM_001042750.2(STAG2):c.2584A>G (p.Arg862Gly) rs1556553319
NM_001048174.2(MUTYH):c.1257_1258del (p.Ile421fs) rs876659414
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255
NM_001048174.2(MUTYH):c.421-2A>C rs786203161
NM_001048174.2(MUTYH):c.493-5A>G rs758377868
NM_001048174.2(MUTYH):c.606G>C (p.Gln202His) rs199989617
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598
NM_001048174.2(MUTYH):c.622G>A (p.Asp208Asn) rs1570409700
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001065.4(TNFRSF1A):c.184T>G (p.Cys62Gly) rs104895225
NM_001065.4(TNFRSF1A):c.250T>C (p.Cys84Arg) rs104895253
NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys) rs797044954
NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu)
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174
NM_001080449.3(DNA2):c.1808T>C (p.Phe603Ser)
NM_001080522.2(CC2D2A):c.4497-2A>G rs1553845569
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543
NM_001083962.2(TCF4):c.1486+2T>C rs1555721921
NM_001083962.2(TCF4):c.1720A>G (p.Asn574Asp)
NM_001083962.2(TCF4):c.1772_1776delinsCT (p.Leu591_Gly592delinsPro) rs1555710416
NM_001083962.2(TCF4):c.1811_1822del (p.Pro604_Lys607del) rs1555710171
NM_001083962.2(TCF4):c.1816A>C (p.Thr606Pro)
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.1097dup (p.Ser368fs) rs1554329078
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) rs1554329317
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001101.5(ACTB):c.773C>T (p.Pro258Leu) rs1554329281
NM_001101.5(ACTB):c.779C>A (p.Ala260Glu)
NM_001101.5(ACTB):c.888C>G (p.Asn296Lys) rs769182426
NM_001102.4(ACTN1):c.136C>T (p.Arg46Trp) rs747559032
NM_001103.3(ACTN2):c.683T>C (p.Met228Thr) rs786205144
NM_001110219.3(GJB6):c.148G>C (p.Asp50His)
NM_001110556.2(FLNA):c.415G>C (p.Gly139Arg) rs1557179684
NM_001110792.2(MECP2):c.348G>T (p.Trp116Cys) rs1557137745
NM_001110792.2(MECP2):c.433C>A (p.Arg145Ser) rs28934904
NM_001110792.2(MECP2):c.953G>C (p.Arg318Pro) rs61751443
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp) rs1057521657
NM_001122630.2(CDKN1C):c.788-1G>A
NM_001124758.2(SPNS2):c.c.1066_1067delinsT (p.Pro356Cysfs) rs1555537637
NM_001126112.2(TP53):c.473_474delinsTT (p.Arg158Leu) rs1567553501
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001126131.2(POLG):c.3240_3242dup (p.Arg1081dup) rs1064794213
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val) rs1568514116
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg) rs1555737113
NM_001127222.2(CACNA1A):c.5941-2A>G rs1555731992
NM_001127644.2(GABRA1):c.809T>C (p.Val270Ala)
NM_001127713.1(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_001127713.1(ATL1):c.1483C>T (p.Arg495Trp) rs864622269
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.1186+1G>T rs587781337
NM_001128425.1(MUTYH):c.1324-1G>T rs876660837
NM_001128425.1(MUTYH):c.1471A>T (p.Lys491Ter) rs876660774
NM_001128425.1(MUTYH):c.1476_1476+6del rs864621967
NM_001128425.1(MUTYH):c.1518+1G>T rs876659420
NM_001128425.1(MUTYH):c.1640del (p.Ala547fs) rs587780086
NM_001128425.1(MUTYH):c.326G>C (p.Arg109Pro) rs761763725
NM_001128425.1(MUTYH):c.332T>C (p.Leu111Pro) rs1557485553
NM_001128425.1(MUTYH):c.348+1G>T rs1553130042
NM_001128425.1(MUTYH):c.401A>T (p.Glu134Val) rs864622450
NM_001128425.1(MUTYH):c.44T>C (p.Met15Thr) rs201163858
NM_001128425.1(MUTYH):c.462+2T>G rs1553129521
NM_001128425.1(MUTYH):c.463-1G>A rs1057520660
NM_001128425.1(MUTYH):c.470C>T (p.Pro157Leu) rs777184451
NM_001128425.1(MUTYH):c.504+19_504+31del rs781222233
NM_001128425.1(MUTYH):c.545G>C (p.Arg182Pro) rs143353451
NM_001128425.1(MUTYH):c.563_576+1del rs766553845
NM_001128425.1(MUTYH):c.577-2A>G rs1553128663
NM_001128425.1(MUTYH):c.643G>A (p.Val215Met) rs776487884
NM_001128425.1(MUTYH):c.713A>G (p.Asn238Ser) rs1057517765
NM_001128425.1(MUTYH):c.722G>A (p.Arg241Gln) rs1060501346
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.918C>G (p.Cys306Trp) rs730881834
NM_001128425.1(MUTYH):c.933_933+1delAG rs1553127514
NM_001128431.4(SLC39A14):c.382C>T (p.Arg128Trp)
NM_001128840.3(CACNA1D):c.4362+1G>C rs1553676901
NM_001128849.2(SMARCA4):c.2859+1G>C rs797044856
NM_001128849.2(SMARCA4):c.4266+1G>C rs1060502086
NM_001129820.1(SLFN14):c.652A>G (p.Lys218Glu) rs869320716
NM_001130004.2(ACTN1):c.959G>A (p.Arg320Gln)
NM_001130020.2(ATP6V0A1):c.2222G>A (p.Arg741Gln) rs1567871600
NM_001130089.2(KARS1):c.683C>T rs201650281
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr)
NM_001134407.3(GRIN2A):c.1925T>G (p.Leu642Arg)
NM_001142864.4(PIEZO1):c.7477CTGGAG[1] (p.2493LE[1])
NM_001148.6(ANK2):c.10360del (p.Arg3454fs)
NM_001148.6(ANK2):c.2179-1G>A
NM_001160036.2(RHOBTB2):c.1448G>A (p.Arg483His) rs1554504663
NM_001160036.2(RHOBTB2):c.1528A>G (p.Asn510Asp) rs1554504678
NM_001160036.2(RHOBTB2):c.1532G>A (p.Arg511Gln) rs1554504684
NM_001160133.1(KCNQ5):c.1039G>A (p.Gly347Ser) rs1554210415
NM_001160133.1(KCNQ5):c.1105C>A (p.Pro369Thr) rs1554210418
NM_001160133.1(KCNQ5):c.1327C>T (p.Arg443Ter) rs1554213240
NM_001160372.4(TRAPPC9):c.1982-1G>A rs1465738840
NM_001162501.2(TNRC6B):c.4583-2A>G
NM_001163435.3(TBCK):c.720+1G>A
NM_001164342.2(ZBTB20):c.1811A>C (p.Lys604Thr) rs483353069
NM_001164342.2(ZBTB20):c.1873A>G (p.Met625Val) rs1064795382
NM_001164342.2(ZBTB20):c.1885A>G (p.Thr629Ala) rs1553789264
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) rs121918623
NM_001165963.4(SCN1A):c.2636T>G (p.Leu879Arg) rs1559200901
NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His) rs1057521746
NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro) rs121917974
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001165963.4(SCN1A):c.5306A>G (p.Tyr1769Cys) rs886039460
NM_001165963.4(SCN1A):c.652T>C (p.Phe218Leu) rs970867558
NM_001165963.4(SCN1A):c.841C>A (p.Pro281Thr) rs1553549660
NM_001167617.2(MLH1):c.1294_1296del (p.Phe432del) rs587778930
NM_001167617.2(MLH1):c.1958_1959dup (p.Val654fs) rs267607901
NM_001170629.2(CHD8):c.3308-1G>A
NM_001172509.2(SATB2):c.1253T>G (p.Met418Arg) rs1553547885
NM_001172509.2(SATB2):c.1730_1731del (p.Glu577fs) rs1553544102
NM_001182.5(ALDH7A1):c.247-1G>C rs1060502949
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.593G>C (p.Arg198Pro) rs772837341
NM_001193466.2(KANSL1):c.808_809del (p.Leu270fs) rs551541795
NM_001193466.2(KANSL1):c.868C>T (p.Arg290Ter) rs149830411
NM_001195518.2(MICU1):c.40del (p.Ala14fs) rs749124658
NM_001197104.2(KMT2A):c.4310G>T (p.Cys1437Phe)
NM_001197293.3(DPYSL2):c.357C>A (p.Ser119Arg) rs138340807
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224
NM_001205019.2(GK):c.152+1G>C
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser) rs869312920
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.4268T>C (p.Ile1423Thr)
NM_001220.5(CAMK2B):c.901A>G (p.Lys301Glu) rs1554385111
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_001244008.2(KIF1A):c.469C>T (p.Leu157Phe)
NM_001244008.2(KIF1A):c.746T>C (p.Leu249Pro)
NM_001244008.2(KIF1A):c.824T>C (p.Leu275Pro)
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln) rs149705131
NM_001256071.3(RNF213):c.12341C>T (p.Thr4114Ile)
NM_001256071.3(RNF213):c.12365A>C (p.Asp4122Ala)
NM_001256447.2(BCAP31):c.739T>C (p.Ter247Gln) rs1557047215
NM_001256789.3(CACNA1F):c.1606G>A (p.Ala536Thr) rs781923856
NM_001258038.2(SPRY1):c.173_174insAG (p.Val59fs)
NM_001258271.1(MLH1):c.1896+1279_1896+1281del rs1553664506
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.10303+2T>C rs371596417
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.45316_45320dup (p.Arg15108fs) rs794729390
NM_001267550.2(TTN):c.45616G>T (p.Glu15206Ter) rs796314079
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs) rs886039125
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs) rs794729319
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.81340_81344del (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.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.1622C>G (p.Pro541Arg) rs1555440561
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.24684G>A (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.5344-1G>C rs1197561990
NM_001271696.3(ABCB7):c.2044G>A (p.Gly682Ser) rs797044558
NM_001271838.2(RSRC1):c.495-2A>G
NM_001273.5(CHD4):c.3659A>C (p.Lys1220Thr) rs1377989582
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) rs397516455
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001278074.1(COL5A1):c.5165dup (p.Val1723fs) rs1554726251
NM_001278074.1(COL5A1):c.655-1G>C rs1554787526
NM_001278116.2(L1CAM):c.524-2A>G
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)
NM_001278716.2(FBXL4):c.1740_1742del (p.Leu581del)
NM_001281463.1(SMC1A):c.2285T>C (p.Ile762Thr) rs387906702
NM_001281463.1(SMC1A):c.2302C>T (p.Arg768Trp) rs587784412
NM_001281463.1(SMC1A):c.3131G>A (p.Arg1044His) rs1556886034
NM_001281463.1(SMC1A):c.3512T>G (p.Phe1171Cys) rs869312954
NM_001282531.3(ADNP):c.201G>C (p.Gln67His) rs1555812161
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His) rs867543866
NM_001282545.2(BARD1):c.216-16677dup rs1553619688
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) rs760956030
NM_001291415.2(KDM6A):c.2989-2A>G
NM_001304718.2(PTEN):c.-667_-665del rs1114167625
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_001317778.2(SFTPC):c.397A>C (p.Ser133Arg) rs1554476282
NM_001320.6(CSNK2B):c.73-2A>G rs1554169967
NM_001323289.2(CDKL5):c.656A>C (p.Gln219Pro) rs786204963
NM_001323289.2(CDKL5):c.689T>A (p.Leu230His)
NM_001330260.2(SCN8A):c.2921C>G (p.Ala974Gly)
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr) rs1555231012
NM_001330368.2(C11orf65):c.641-22376CT[2] rs587781905
NM_001330368.2(C11orf65):c.641-26890_641-26870del rs771146489
NM_001330368.2(C11orf65):c.641-36819_641-36818delinsTT rs587781353
NM_001332.4(CTNND2):c.1629-2A>G rs1554008611
NM_001348716.2(KDM6B):c.138-1G>A
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.4514G>C (p.Ser1505Thr)
NM_001348768.2(HECW2):c.4714G>A (p.Glu1572Lys) rs1553629086
NM_001351834.2(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_001352027.3(PHF21A):c.1995del (p.Ser666fs) rs1554969688
NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp) rs869312941
NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile) rs80338799
NM_001354689.3(RAF1):c.1897C>A (p.Leu633Ile) rs80338797
NM_001354689.3(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_001354712.2(THRB):c.959G>A (p.Arg320His) rs121918693
NM_001356.4(DDX3X):c.1538T>C (p.Val513Ala) rs1569240261
NM_001356.4(DDX3X):c.536_543+5inv
NM_001356.4(DDX3X):c.976C>T (p.Arg326Cys) rs1555953548
NM_001356.5(DDX3X):c.1415A>C (p.His472Pro)
NM_001356.5(DDX3X):c.1839del (p.Phe613fs)
NM_001356.5(DDX3X):c.1859dup (p.Ser620fs)
NM_001360.2(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001360016.2(G6PD):c.1089C>G (p.Asn363Lys)
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) rs76343591
NM_001365536.1(SCN9A):c.2517G>T (p.Leu839=)
NM_001367561.1(DOCK7):c.3936G>A (p.Thr1312=) rs1553163123
NM_001367721.1(CASK):c.2486A>G (p.Gln829Arg) rs759736132
NM_001368809.2(AMPD2):c.1070A>G (p.Asn357Ser) rs869312928
NM_001368809.2(AMPD2):c.971G>C (p.Arg324Pro) rs746332433
NM_001369.2(DNAH5):c.10226G>C (p.Trp3409Ser) rs755407407
NM_001369268.1(ACAN):c.6127G>T (p.Glu2043Ter) rs267604368
NM_001370259.2(MEN1):c.1351-2A>C rs1060499986
NM_001370259.2(MEN1):c.143T>C (p.Leu48Pro) rs1592660057
NM_001370259.2(MEN1):c.1539del (p.Arg516fs) rs1592631908
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.912G>A (p.Lys304=) rs1592646211
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_001371596.2(MFSD8):c.63-2A>G
NM_001372044.2(SHANK3):c.5362dup (p.Thr1788fs)
NM_001374258.1(BRAF):c.1720G>C (p.Gly574Arg) rs180177041
NM_001374258.1(BRAF):c.1907G>T (p.Gly636Val) rs397507483
NM_001374258.1(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_001374353.1(GLI2):c.3638del (p.Ala1213fs) rs1553479405
NM_001374828.1(ARID1B):c.6599C>A (p.Ser2200Ter)
NM_001375380.1(EBF3):c.386G>C (p.Arg129Pro)
NM_001375380.1(EBF3):c.490T>G (p.Cys164Gly)
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp) rs779003155
NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln) rs1131692261
NM_001375380.1(EBF3):c.686C>T (p.Ser229Leu)
NM_001376.5(DYNC1H1):c.10051A>T (p.Ile3351Phe) rs1567018763
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001376.5(DYNC1H1):c.6989G>A (p.Gly2330Glu) rs1555410010
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001377303.1(L3MBTL1):c.2041G>T (p.Glu681Ter)
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001379029.1(CERT1):c.404C>T (p.Ser135Phe)
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.3502-2A>G
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.6608dup (p.Gly2204fs)
NM_001429.4(EP300):c.6986dup (p.Arg2330fs)
NM_001429.4(EP300):c.7097del (p.Ser2366fs)
NM_001492.6(GDF1):c.608G>A (p.Trp203Ter)
NM_001492.6(GDF1):c.787_814del (p.Pro263fs)
NM_001493.3(GDI1):c.819+1G>A rs1557198821
NM_001499.2(GLE1):c.1706G>A (p.Arg569His) rs121434407
NM_001519.4(BRF1):c.677C>T (p.Ser226Leu) rs606231416
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.4(ACTA2):c.146T>C (p.Met49Thr) rs869025352
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys) rs772862676
NM_001613.4(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001614.5(ACTG1):c.206A>G (p.Tyr69Cys) rs781953399
NM_001673.5(ASNS):c.1320+1G>C
NM_001673.5(ASNS):c.1649G>A (p.Arg550His) rs552452349
NM_001690.4(ATP6V1A):c.80C>G (p.Pro27Arg) rs1553709380
NM_001690.4(ATP6V1A):c.967A>G (p.Arg323Gly)
NM_001698.2(AUH):c.824C>T (p.Ala275Val) rs748318386
NM_001709.5(BDNF):c.502G>T (p.Glu168Ter) rs1554931219
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys) rs797044916
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.1636G>A (p.Gly546Ser) rs886044555
NM_001844.5(COL2A1):c.2789G>A (p.Gly930Asp) rs1555165501
NM_001844.5(COL2A1):c.3062CCGTGGGTCCTCCTGGCC[4] (p.1021PVGPPG[4])
NM_001844.5(COL2A1):c.3077G>C (p.Gly1026Ala) rs1555165336
NM_001845.6(COL4A1):c.1180G>C (p.Gly394Arg)
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_001868.4(CPA1):c.829G>A (p.Gly277Ser) rs782790983
NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn) rs760714614
NM_001876.4(CPT1A):c.1184G>C (p.Arg395Pro)
NM_001904.4(CTNNB1):c.1139A>T (p.Asn380Ile) rs1553631770
NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg) rs797044875
NM_001931.5(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001958.4(EEF1A2):c.1267C>T (p.Arg423Cys) rs886039346
NM_001999.4(FBN2):c.3466T>C (p.Cys1156Arg)
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_002024.6(FMR1):c.797G>A (p.Gly266Glu) rs1569545763
NM_002025.4(AFF2):c.1210+1G>A
NM_002025.4(AFF2):c.3203+1G>A
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471
NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002107.6(H3-3A):c.365C>T (p.Pro122Leu) rs1576203003
NM_002107.6(H3-3A):c.377A>G (p.Gln126Arg) rs1276519904
NM_002107.7(H3-3A):c.137C>T (p.Thr46Ile)
NM_002107.7(H3-3A):c.244G>C (p.Asp82His)
NM_002107.7(H3-3A):c.365C>G (p.Pro122Arg)
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002222.6(ITPR1):c.1654T>C (p.Tyr552His) rs1553681758
NM_002222.6(ITPR1):c.1768C>T (p.Leu590Phe) rs1064796252
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889
NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp) rs869312953
NM_002356.7(MARCKS):c.616_632del (p.Glu206fs) rs1554191995
NM_002382.5(MAX):c.171+2T>A rs786203009
NM_002382.5(MAX):c.212T>A (p.Ile71Asn) rs876659610
NM_002397.5(MEF2C):c.401_402+2del rs1561875779
NM_002397.5(MEF2C):c.58A>T (p.Thr20Ser) rs1554139870
NM_002439.5(MSH3):c.1341-1G>T rs61754780
NM_002439.5(MSH3):c.2435+2T>C rs1580045730
NM_002439.5(MSH3):c.2436-1G>A rs200639359
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg) rs1565943228
NM_002470.4(MYH3):c.3269A>C (p.Gln1090Pro) rs1555525941
NM_002470.4(MYH3):c.706A>C (p.Thr236Pro) rs1555527172
NM_002471.3(MYH6):c.2162G>A (p.Arg721Gln) rs770907731
NM_002485.4(NBN):c.1124+1G>C rs1057517209
NM_002485.4(NBN):c.1397+1_1397+9delinsACA rs876659666
NM_002485.4(NBN):c.171+1G>A rs931715719
NM_002485.4(NBN):c.1846-1G>A rs61753717
NM_002485.4(NBN):c.1911_1914+1del rs1554556880
NM_002485.4(NBN):c.2070+1G>A rs1554556454
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.2185-1G>A rs1057517262
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+2dup rs876658183
NM_002485.4(NBN):c.38-2A>G rs771475965
NM_002485.4(NBN):c.481-2A>T rs751567476
NM_002485.4(NBN):c.585-1_585delinsC rs786203662
NM_002485.4(NBN):c.897-2A>T rs864622090
NM_002485.4(NBN):c.994+1G>T rs1554562083
NM_002485.4(NBN):c.995-2A>G rs876659521
NM_002485.5(NBN):c.2234+1G>T rs1586024147
NM_002485.5(NBN):c.584+2T>C rs1586101154
NM_002485.5(NBN):c.897-1G>A rs1586076299
NM_002528.7(NTHL1):c.115+1G>A rs749908882
NM_002528.7(NTHL1):c.116-1G>A rs1411394625
NM_002528.7(NTHL1):c.526-1G>A rs779757251
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter) rs753029097
NM_002547.3(OPHN1):c.1362-2A>G rs1569215808
NM_002578.5(PAK3):c.276+5G>A rs1569398792
NM_002585.4(PBX1):c.760T>C (p.Ser254Pro)
NM_002609.4(PDGFRB):c.1996A>C (p.Asn666His) rs797044887
NM_002633.3(PGM1):c.878G>A (p.Arg293Gln)
NM_002641.3(PIGA):c.98A>G (p.His33Arg) rs797044924
NM_002662.5(PLD1):c.2531A>G (p.His844Arg) rs556433569
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002693.2(POLG):c.3317T>C (p.Val1106Ala) rs1354582663
NM_002709.3(PPP1CB):c.548A>C (p.Glu183Ala) rs886037954
NM_002755.3(MAP2K1):c.607G>A (p.Glu203Lys) rs1057519733
NM_002764.3(PRPS1):c.341A>G (p.Asn114Ser) rs137852540
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875
NM_002878.3(RAD51D):c.264-2A>C rs1555568514
NM_002878.3(RAD51D):c.264-2A>G rs1555568514
NM_002878.3(RAD51D):c.335G>C (p.Gly112Ala) rs587782848
NM_002878.3(RAD51D):c.346-1G>C rs1555568386
NM_002878.3(RAD51D):c.473_480+1del rs786202819
NM_002878.3(RAD51D):c.486_532del (p.Glu162fs) rs1597861744
NM_002878.3(RAD51D):c.576+1G>A rs781161543
NM_002878.3(RAD51D):c.577-2A>G rs1555567649
NM_002878.3(RAD51D):c.608delinsGA (p.Val203fs) rs1597858862
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.667+1G>T rs1597858666
NM_002878.3(RAD51D):c.668-2A>C rs1567726325
NM_002878.3(RAD51D):c.738+1G>A rs1567726124
NM_002878.3(RAD51D):c.738G>A (p.Val246=) rs1210620444
NM_002878.3(RAD51D):c.739-1G>A rs1555567202
NM_002878.3(RAD51D):c.739-2A>T rs1597856297
NM_002878.3(RAD51D):c.772_778del (p.Gly258fs) rs1064795045
NM_002878.3(RAD51D):c.82+1G>A rs786202788
NM_002878.3(RAD51D):c.82+2T>G rs1597878498
NM_002878.3(RAD51D):c.898C>T (p.Arg300Ter) rs750621215
NM_002878.3(RAD51D):c.901C>T (p.Gln301Ter) rs1060502959
NM_002878.3(RAD51D):c.904-2A>T rs1403784434
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.221A>C (p.Asp74Ala) rs876658713
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.278G>T (p.Cys93Phe) rs1131691054
NM_003000.2(SDHB):c.287G>A (p.Gly96Asp) rs778952116
NM_003000.2(SDHB):c.289A>T (p.Ile97Phe) rs1553177769
NM_003000.2(SDHB):c.296G>A (p.Gly99Asp) rs878854576
NM_003000.2(SDHB):c.386C>G (p.Pro129Arg) rs587781735
NM_003000.2(SDHB):c.395A>C (p.His132Pro) rs74315372
NM_003000.2(SDHB):c.412G>T (p.Asp138Tyr) rs786203529
NM_003000.2(SDHB):c.566G>T (p.Cys189Phe) rs876658540
NM_003000.2(SDHB):c.598T>C (p.Trp200Arg) rs1557739966
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.653G>C (p.Trp218Ser) rs1553177290
NM_003000.2(SDHB):c.73-1G>A rs1131691055
NM_003000.2(SDHB):c.73-1G>T rs1131691055
NM_003000.2(SDHB):c.744C>G (p.Asn248Lys) rs1131691058
NM_003000.2(SDHB):c.758G>A (p.Cys253Tyr) rs786201085
NM_003000.3(SDHB):c.221A>T (p.Asp74Val) rs876658713
NM_003000.3(SDHB):c.332T>C (p.Leu111Pro) rs1570948631
NM_003000.3(SDHB):c.415C>T (p.Leu139Phe) rs397516834
NM_003000.3(SDHB):c.728G>T (p.Cys243Phe) rs1570944788
NM_003001.3(SDHC):c.179+1G>C rs1057517818
NM_003001.3(SDHC):c.21-2A>G rs1131691062
NM_003001.3(SDHC):c.78-1G>A rs786202200
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661
NM_003001.5(SDHC):c.223G>C (p.Gly75Arg) rs867966048
NM_003001.5(SDHC):c.241+1G>A rs748440817
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) rs898854295
NM_003001.5(SDHC):c.380A>G (p.His127Arg) rs786203457
NM_003001.5(SDHC):c.77+1G>A rs1558164647
NM_003002.4(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.4(SDHD):c.209G>C (p.Arg70Thr) rs755047928
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.278_280dup (p.Tyr93dup) rs121908983
NM_003002.4(SDHD):c.305A>G (p.His102Arg) rs104894302
NM_003002.4(SDHD):c.305A>T (p.His102Leu) rs104894302
NM_003002.4(SDHD):c.314+3A>C rs1555187084
NM_003002.4(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003002.4(SDHD):c.326_327del (p.Gln109fs) rs1592786159
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_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.455G>A (p.Gly152Asp) rs747821417
NM_003070.5(SMARCA2):c.2326T>C (p.Tyr776His) rs1554623111
NM_003070.5(SMARCA2):c.2737T>C (p.Phe913Leu) rs1554623885
NM_003072.5(SMARCA4):c.2681C>T (p.Thr894Met)
NM_003072.5(SMARCA4):c.355+2T>G rs1599942345
NM_003072.5(SMARCA4):c.3873+1G>C rs1600394246
NM_003079.5(SMARCE1):c.227A>G (p.Tyr76Cys) rs1555605893
NM_003106.4(SOX2):c.334C>G (p.Pro112Ala) rs1553862987
NM_003122.4(SPINK1):c.-53C>T rs367798627
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu) rs1555354750
NM_003183.6(ADAM17):c.230+1G>A
NM_003193.5(TBCE):c.101G>C (p.Gly34Ala) rs1283368278
NM_003193.5(TBCE):c.1491_1491+4dup rs746593718
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_003242.6(TGFBR2):c.1189G>A (p.Asp397Asn) rs863223845
NM_003250.6(THRA):c.788C>T (p.Ala263Val) rs1555545033
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125
NM_003336.4(UBE2A):c.1A>G (p.Met1Val) rs1556235119
NM_003336.4(UBE2A):c.2T>G (p.Met1Arg) rs1556235129
NM_003403.5(YY1):c.1015A>C (p.Lys339Gln) rs1555370868
NM_003412.4(ZIC1):c.1130T>C (p.Leu377Pro)
NM_003482.3(KMT2D):c.4280G>A (p.Cys1427Tyr) rs1555195158
NM_003482.3(KMT2D):c.70G>T (p.Glu24Ter) rs1555198910
NM_003560.4(PLA2G6):c.1111G>A (p.Val371Met)
NM_003560.4(PLA2G6):c.1427+1G>C
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113
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+1del rs1556200443
NM_003611.3(OFD1):c.929T>C (p.Phe310Ser) rs797044917
NM_003620.3(PPM1D):c.1226_1227del (p.Met409fs) rs1555648564
NM_003620.4(PPM1D):c.1254dup (p.Val419fs)
NM_003620.4(PPM1D):c.1262C>G (p.Ser421Ter)
NM_003676.4(DEGS1):c.397C>T (p.Arg133Trp) rs1367958450
NM_003676.4(DEGS1):c.752dup (p.Leu251fs)
NM_003722.5(TP63):c.500C>T (p.Ser167Phe) rs1553845515
NM_003850.2(SUCLA2):c.272-2A>G rs565456094
NM_003872.3(NRP2):c.2118del (p.Val707fs) rs779617179
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_003977.4(AIP):c.645+2T>C rs1293512916
NM_003995.3(NPR2):c.668-1G>C rs1554672061
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu) rs565090080
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.1220A>G (p.His407Arg) rs374087393
NM_004168.4(SDHA):c.1340A>G (p.His447Arg) rs779151375
NM_004168.4(SDHA):c.1432+1_1432+2delinsAG rs1579410180
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.1795-1G>T rs778516878
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs) rs750865703
NM_004168.4(SDHA):c.1909-1G>A rs1159597886
NM_004168.4(SDHA):c.1909-2A>G rs747939816
NM_004168.4(SDHA):c.456+1G>A rs1579384604
NM_004168.4(SDHA):c.456+1G>T rs1579384604
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) rs139881415
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg) rs940845256
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) rs587781720
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro) rs199422235
NM_004187.5(KDM5C):c.1499C>T (p.Pro500Leu) rs1569273900
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr) rs387906729
NM_004187.5(KDM5C):c.2092G>A (p.Glu698Lys) rs1057517955
NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del) rs766667249
NM_004247.4(EFTUD2):c.105+2T>G
NM_004247.4(EFTUD2):c.2306G>A (p.Gly769Asp)
NM_004247.4(EFTUD2):c.702+1G>T rs1085307457
NM_004279.3(PMPCB):c.523C>T (p.Arg175Cys) rs145596167
NM_004279.3(PMPCB):c.601G>C (p.Ala201Pro) rs146343535
NM_004287.3(GOSR2):c.336+1G>A rs141554661
NM_004321.7(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_004321.7(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_004321.7(KIF1A):c.641G>A (p.Ser214Asn) rs1553638309
NM_004321.7(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
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.1508G>A (p.Cys503Tyr) rs869312790
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.233C>T (p.Thr78Ile) rs1064793490
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.371G>A (p.Cys124Tyr) rs587782388
NM_004329.2(BMPR1A):c.67G>A (p.Gly23Arg) rs1131691171
NM_004329.3(BMPR1A):c.1167-1G>A rs1589292553
NM_004329.3(BMPR1A):c.1473+1G>A rs1589293533
NM_004329.3(BMPR1A):c.531-1G>T rs1589288524
NM_004329.3(BMPR1A):c.676-1G>C rs1554890734
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004360.5(CDH1):c.1009-1G>C rs1597894632
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.1565+5G>A rs786201861
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.1936+5G>A rs1567512631
NM_004360.5(CDH1):c.2272G>A (p.Glu758Lys) rs786202785
NM_004360.5(CDH1):c.2296-2A>G rs876660393
NM_004360.5(CDH1):c.2439+5_2439+8del rs587782810
NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter) rs1555518211
NM_004360.5(CDH1):c.2474dup (p.Pro826fs) rs1555518221
NM_004360.5(CDH1):c.2480dup (p.Tyr827Ter) rs1596976243
NM_004360.5(CDH1):c.2490dup (p.Leu831fs) rs1131690822
NM_004360.5(CDH1):c.2506G>T (p.Glu836Ter) rs1555518239
NM_004360.5(CDH1):c.532-1G>C rs771085839
NM_004360.5(CDH1):c.687+2T>C rs1555515297
NM_004369.3(COL6A3):c.6354+1G>A rs886042883
NM_004370.6(COL12A1):c.8453G>A (p.Gly2818Glu) rs1554168326
NM_004380.3(CREBBP):c.3882C>G (p.Cys1294Trp)
NM_004380.3(CREBBP):c.4493G>A (p.Arg1498Gln) rs1567269945
NM_004380.3(CREBBP):c.5159G>A (p.Cys1720Tyr)
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter) rs199821421
NM_004408.4(DNM1):c.1610G>A (p.Gly537Asp) rs1554781552
NM_004408.4(DNM1):c.415G>A (p.Gly139Arg) rs1564328617
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.8188del (p.Gln2730fs) rs886038929
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_004541.4(NDUFA1):c.127T>C (p.Tyr43His) rs797044914
NM_004572.3(PKP2):c.2299+1G>A rs794729116
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln) rs28935171
NM_004586.3(RPS6KA3):c.326-11A>G rs1555943503
NM_004608.3(TBX6):c.512G>A (p.Arg171His) rs768465241
NM_004612.4(TGFBR1):c.1124C>G (p.Thr375Arg)
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_004655.4(AXIN2):c.1201-2A>G rs775783026
NM_004655.4(AXIN2):c.1713-1G>A rs1309148182
NM_004655.4(AXIN2):c.1908-1G>A rs773157765
NM_004655.4(AXIN2):c.1908-2A>G rs978837790
NM_004655.4(AXIN2):c.2309del (p.Phe770fs) rs1299440644
NM_004656.4(BAP1):c.38-1G>A rs1553646367
NM_004656.4(BAP1):c.580+1G>T rs1553645785
NM_004656.4(BAP1):c.659+3A>C rs878854741
NM_004656.4(BAP1):c.68-2_68-1insTTCCTTTCCTTGACACCTTAAC rs1064792988
NM_004859.4(CLTC):c.2204C>T (p.Ala735Val) rs1555605688
NM_004859.4(CLTC):c.4904-1G>A rs781677731
NM_004964.3(HDAC1):c.461A>G (p.Asn154Ser) rs797044931
NM_004974.4(KCNA2):c.869T>G (p.Leu290Arg)
NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg) rs587777848
NM_004975.4(KCNB1):c.1100C>T (p.Ser367Phe)
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.988G>A (p.Glu330Lys) rs1555889114
NM_005045.4(RELN):c.812G>T (p.Gly271Val) rs1554404338
NM_005120.3(MED12):c.1300del (p.Ala434fs) rs1556334793
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.6358C>T (p.Gln2120Ter) rs1556340124
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp) rs397517065
NM_005188.3(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.4(CBL):c.1166A>C (p.Lys389Thr)
NM_005214.5(CTLA4):c.436G>A (p.Gly146Arg)
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569
NM_005235.3(ERBB4):c.119_120del (p.Leu39_Ser40insTer) rs1553563398
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr)
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe) rs796052467
NM_005249.5(FOXG1):c.749G>A (p.Gly250Asp)
NM_005267.5(GJA8):c.136G>A (p.Gly46Arg) rs1553242554
NM_005267.5(GJA8):c.151G>T (p.Asp51Tyr) rs864309703
NM_005276.4(GPD1):c.866_867del (p.Lys289fs) rs746781699
NM_005321.3(H1-4):c.368_369insT (p.Gly124fs)
NM_005321.3(H1-4):c.408dup (p.Lys137fs) rs1581429395
NM_005321.3(H1-4):c.414dup (p.Lys139fs) rs1581429403
NM_005321.3(H1-4):c.427_430dup (p.Ala144fs)
NM_005321.3(H1-4):c.430dup (p.Ala144fs) rs1131690805
NM_005349.3(RBPJ):c.169C>G (p.Gln57Glu) rs1553878198
NM_005359.6(SMAD4):c.1088G>A (p.Cys363Tyr) rs876660556
NM_005359.6(SMAD4):c.1308+1G>T rs587781618
NM_005359.6(SMAD4):c.1349_1376dup (p.Ala460fs) rs876660720
NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg) rs1060500738
NM_005359.6(SMAD4):c.250-1G>C rs1555685149
NM_005359.6(SMAD4):c.905-1G>A rs1555686070
NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly) rs281875324
NM_005360.5(MAF):c.170C>T (p.Ser57Phe) rs1555530080
NM_005378.6(MYCN):c.1037dup (p.Gln347fs)
NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) rs140236996
NM_005431.2(XRCC2):c.122-1G>T rs201836415
NM_005431.2(XRCC2):c.39+1G>A rs560785131
NM_005431.2(XRCC2):c.39+2T>A rs758499439
NM_005431.2(XRCC2):c.490_491del (p.Glu164fs) rs1590129487
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer) rs746142129
NM_005431.2(XRCC2):c.96del (p.Phe32fs) rs730882048
NM_005445.4(SMC3):c.3439C>G (p.Gln1147Glu)
NM_005450.6(NOG):c.615G>A (p.Trp205Ter)
NM_005461.5(MAFB):c.209C>T (p.Ser70Leu) rs387907006
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005476.7(GNE):c.796C>T (p.Arg266Trp) rs121908621
NM_005499.3(UBA2):c.1A>G (p.Met1Val)
NM_005499.3(UBA2):c.816_817del (p.Trp273fs) rs1555729503
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu) rs762770081
NM_005520.3(HNRNPH1):c.616C>T (p.Arg206Trp)
NM_005543.4(INSL3):c.148dup (p.Arg50fs) rs1187807999
NM_005548.2(KARS1):c.22G>T (p.Glu8Ter) rs869312925
NM_005548.3(KARS1):c.1676C>T (p.Thr559Met)
NM_005559.4(LAMA1):c.7870T>C (p.Tyr2624His) rs797044940
NM_005585.5(SMAD6):c.950C>G (p.Ser317Ter)
NM_005590.4(MRE11):c.1842+2_1842+5del rs1555002387
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.1927-1G>T rs1295485913
NM_005591.3(MRE11):c.1927-2A>G rs587781822
NM_005591.3(MRE11):c.21-6_26del 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+3delinsGGG rs1555015413
NM_005591.3(MRE11):c.402G>C (p.Gly134=) rs587782669
NM_005591.3(MRE11):c.545-1G>A rs1451215042
NM_005591.3(MRE11):c.660-1G>A rs876658917
NM_005591.3(MRE11):c.845+2T>A rs587781381
NM_005591.4(MRE11):c.1225+2T>C rs145058858
NM_005591.4(MRE11):c.1326+2T>G rs1475506136
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442
NM_005591.4(MRE11):c.1995-2A>G rs1591634006
NM_005591.4(MRE11):c.2070+2T>A rs786202801
NM_005591.4(MRE11):c.314+2T>C rs1591718826
NM_005591.4(MRE11):c.402+1G>A rs929767929
NM_005591.4(MRE11):c.846-2A>C rs1591693112
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del) rs80338739
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.317G>A (p.Cys106Tyr) rs1131691826
NM_005654.6(NR2F1):c.425G>T (p.Arg142Leu) rs1554074684
NM_005654.6(NR2F1):c.682_684dup (p.Phe228dup)
NM_005691.3(ABCC9):c.3796G>A (p.Val1266Met) rs1555179320
NM_005710.2(PQBP1):c.232C>T (p.Pro78Ser) rs1557041239
NM_005732.4(RAD50):c.1052-2A>C rs876660957
NM_005732.4(RAD50):c.1245+1G>A rs1561639636
NM_005732.4(RAD50):c.129+2T>A rs748086984
NM_005732.4(RAD50):c.130-1G>T rs876658784
NM_005732.4(RAD50):c.1631_1635+1del rs1235022794
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.2524+1G>T rs1581001575
NM_005732.4(RAD50):c.263_365+47delinsCAAAAAGAC rs1580985027
NM_005732.4(RAD50):c.2718+1_2718+5del rs876659158
NM_005732.4(RAD50):c.2829+5G>C rs1446519890
NM_005732.4(RAD50):c.2830-2A>C rs1554099356
NM_005732.4(RAD50):c.2922+1G>A rs1581004749
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.3389+1G>C 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.3753-1G>A rs1554101314
NM_005732.4(RAD50):c.3G>A (p.Met1Ile) rs377260382
NM_005732.4(RAD50):c.551+2T>A rs1580987375
NM_005732.4(RAD50):c.551+2T>C rs1580987375
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.886-1G>C rs1580992079
NM_005732.4(RAD50):c.886-4_890delinsCAAATAAA rs1554098191
NM_005826.5(HNRNPR):c.1654C>T (p.Gln552Ter) rs1553153365
NM_005850.5(SF3B4):c.164-1G>A rs797044869
NM_005859.5(PURA):c.305T>C (p.Leu102Pro) rs793888531
NM_005859.5(PURA):c.458_487dup (p.Arg153_Asn162dup)
NM_005859.5(PURA):c.472G>T (p.Asp158Tyr) rs797044866
NM_005859.5(PURA):c.563T>C (p.Ile188Thr) rs793888527
NM_005859.5(PURA):c.572C>T (p.Pro191Leu) rs1064795165
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) rs886039177
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.733G>A (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.733G>C (p.Gly245Arg) rs863223737
NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln) rs387906788
NM_005996.4(TBX3):c.370G>T (p.Val124Phe) rs927204453
NM_005996.4(TBX3):c.418T>C (p.Cys140Arg)
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006009.4(TUBA1A):c.1055A>T (p.Lys352Met) rs1555162303
NM_006009.4(TUBA1A):c.1082C>T (p.Thr361Ile) rs1555162301
NM_006009.4(TUBA1A):c.191G>A (p.Arg64Gln)
NM_006009.4(TUBA1A):c.344T>C (p.Ile115Thr) rs1085307716
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) rs1085308005
NM_006009.4(TUBA1A):c.902A>G (p.Gln301Arg)
NM_006009.4(TUBA1A):c.959G>A (p.Arg320His) rs1555162323
NM_006015.6(ARID1A):c.5976_5981dup (p.Phe1993_Val1994dup)
NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys) rs869312956
NM_006037.3(HDAC4):c.743C>T (p.Pro248Leu) rs1064797002
NM_006086.4(TUBB3):c.533C>T (p.Thr178Met) rs747480526
NM_006087.4(TUBB4A):c.1240A>T (p.Asn414Tyr)
NM_006087.4(TUBB4A):c.293G>A (p.Gly98Asp) rs1555754185
NM_006179.4(NTF4):c.521A>G (p.Gln174Arg) rs797044939
NM_006180.4(NTRK2):c.1301A>G (p.Tyr434Cys) rs886041091
NM_006196.4(PCBP1):c.550C>T (p.Gln184Ter) rs797044899
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly) rs1057519927
NM_006236.3(POU3F3):c.1032del (p.Leu345fs)
NM_006236.3(POU3F3):c.1197del (p.Ile400fs) rs1553426479
NM_006236.3(POU3F3):c.1234_1244del (p.Ser412fs)
NM_006236.3(POU3F3):c.125del (p.Gly42fs)
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.598G>A (p.Glu200Lys) rs863225079
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr)
NM_006245.4(PPP2R5D):c.752A>C (p.Asp251Ala) rs1064794719
NM_006260.5(DNAJC3):c.1296_1300del (p.Lys433fs)
NM_006268.5(DPF2):c.1049G>A (p.Arg350His) rs1555032051
NM_006270.5(RRAS):c.107GCG[5] (p.Gly39dup) rs749539343
NM_006352.4(ZBTB18):c.1091del (p.Ser364fs) rs875989785
NM_006361.6(HOXB13):c.251G>A rs138213197
NM_006397.2(RNASEH2A):c.590A>G (p.Glu197Gly) rs1555734800
NM_006516.3(SLC2A1):c.881C>T (p.Ser294Phe) rs1557645723
NM_006565.4(CTCF):c.782-2A>G rs1555534189
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006618.5(KDM5B):c.1822-1G>A
NM_006648.3(WNK2):c.4801dup (p.Asp1601fs) rs757473977
NM_006734.4(HIVEP2):c.5461C>A (p.His1821Asn) rs1554275655
NM_006734.4(HIVEP2):c.6516+1G>C
NM_006744.4(RBP4):c.223G>A (p.Ala75Thr) rs794726861
NM_006745.5(MSMO1):c.731A>G (p.Tyr244Cys) rs760048191
NM_006757.4(TNNT3):c.481-1G>A rs769915398
NM_006766.5(KAT6A):c.3040-1G>T
NM_006767.4(LZTR1):c.400+1G>C rs1555927561
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1718G>T (p.Arg573Leu) rs1554121685
NM_006772.3(SYNGAP1):c.3794+2T>C rs1395368098
NM_006772.3(SYNGAP1):c.3794G>C (p.Arg1265Thr) rs1554122763
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 rs1085307520
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala) rs1553517274
NM_006939.4(SOS2):c.1648C>G (p.Arg550Gly)
NM_006941.3(SOX10):c.523C>T (p.Pro175Ser) rs1555938395
NM_006950.3(SYN1):c.635G>T (p.Ser212Ile) rs1556860638
NM_007118.4(TRIO):c.179_183del (p.Met60fs)
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.7960A>T (p.Lys2654Ter)
NM_007194.3:c.(319+1_320-1)_(846+1_847-1)dup
NM_007194.3:c.(846+1_847-1)_(908+1_909-1)dup
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.1039G>A (p.Asp347Asn) rs28909980
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.1096-3_1098del rs876659838
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+1G>C rs759706360
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.1461+1G>T rs886039629
NM_007194.4(CHEK2):c.1462-1G>A rs1060502698
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1542+3A>G rs1060502722
NM_007194.4(CHEK2):c.1543-2A>C rs1160973224
NM_007194.4(CHEK2):c.1547del (p.Ser516fs) rs1555911635
NM_007194.4(CHEK2):c.1558_1559insC (p.Lys520fs) rs876658646
NM_007194.4(CHEK2):c.319+1G>A rs765080766
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr) rs1060502688
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.444+1G>T rs121908698
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.445-1G>C rs587782830
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.592+1G>C rs1601822722
NM_007194.4(CHEK2):c.592+2T>C rs1601822717
NM_007194.4(CHEK2):c.592+3A>T rs587782849
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.684-1G>T rs1298667185
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471
NM_007194.4(CHEK2):c.792+1G>A rs1555921011
NM_007194.4(CHEK2):c.792+2T>C rs545982789
NM_007194.4(CHEK2):c.793-1G>T rs730881687
NM_007194.4(CHEK2):c.846+1G>A rs864622149
NM_007194.4(CHEK2):c.846+1G>C rs864622149
NM_007194.4(CHEK2):c.846+2T>C rs1601777275
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.847-14_847-2delinsGG rs1555917041
NM_007194.4(CHEK2):c.847-2A>G rs1601753141
NM_007194.4(CHEK2):c.908+1G>A rs587781699
NM_007194.4(CHEK2):c.908+1G>T rs587781699
NM_007194.4(CHEK2):c.908+2T>C rs1601752066
NM_007194.4(CHEK2):c.908+3A>T rs1601752050
NM_007194.4(CHEK2):c.909-1G>A rs886039721
NM_007194.4(CHEK2):c.909-2A>G rs1555915589
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.134+1G>T rs80358043
NM_007294.3(BRCA1):c.302-1G>T rs80358116
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
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.4676-1G>C rs80358008
NM_007294.3(BRCA1):c.4676-2A>G rs80358096
NM_007294.3(BRCA1):c.4986+4A>T rs80358087
NM_007294.3(BRCA1):c.4987-1G>C rs730881495
NM_007294.3(BRCA1):c.4987-2A>C rs397509212
NM_007294.3(BRCA1):c.5153-2A>G rs786202545
NM_007294.3(BRCA1):c.5194-2A>C rs80358069
NM_007294.3(BRCA1):c.5278-2A>T rs397509253
NM_007294.3(BRCA1):c.5406+5G>T rs80358073
NM_007294.3(BRCA1):c.5407-1G>C rs80358029
NM_007294.3(BRCA1):c.5467+2T>C rs80358009
NM_007294.3(BRCA1):c.5468-2A>G rs398122699
NM_007294.3(BRCA1):c.5468-2A>T rs398122699
NM_007294.3(BRCA1):c.594_597delTGTG rs797045175
NM_007294.3(BRCA1):c.80+5G>T rs80358045
NM_007294.3:c.(134+1_135-1)_(593+1_594-1)dup
NM_007294.3:c.(4986+1_4987-1)_(5074+1_5075-1)dup
NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg) rs80356880
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe) rs80357498
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.134+5G>A rs80358038
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
NM_007294.4(BRCA1):c.212+1del rs786203526
NM_007294.4(BRCA1):c.212G>T (p.Arg71Met) rs80356913
NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His) rs80356857
NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr) rs273900729
NM_007294.4(BRCA1):c.441G>C (p.Leu147Phe) rs748876625
NM_007294.4(BRCA1):c.4676-1G>A rs80358008
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.4970T>C (p.Leu1657Pro) rs1597830263
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys) rs876660071
NM_007294.4(BRCA1):c.5114T>C (p.Leu1705Pro) rs397507242
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly) rs80357243
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys) rs80357222
NM_007294.4(BRCA1):c.5153-16_5156delinsAATA rs587781526
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr) rs80357104
NM_007294.4(BRCA1):c.5242G>T (p.Gly1748Cys) rs397507245
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.4(BRCA1):c.5252G>C (p.Arg1751Pro) rs80357442
NM_007294.4(BRCA1):c.5254G>C (p.Ala1752Pro) rs80357074
NM_007294.4(BRCA1):c.5277+1_5277+6del rs1060502356
NM_007294.4(BRCA1):c.5277G>T (p.Lys1759Asn) rs80356854
NM_007294.4(BRCA1):c.5278-2A>G rs397509253
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg) rs80357474
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys) rs397509271
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5407-1G>A rs80358029
NM_007294.4(BRCA1):c.5407-25T>A rs758780152
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala) rs80357149
NM_007294.4(BRCA1):c.5426T>A (p.Val1809Asp) rs80357216
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg) rs80357040
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys) rs80356914
NM_007294.4(BRCA1):c.5527G>C (p.Ala1843Pro) rs80357019
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.671-1G>T rs80358020
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_007325.5(GRIA3):c.1502G>C (p.Arg501Thr) rs1556317780
NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg)
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) rs797045047
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu) rs1328780843
NM_012062.5(DNM1L):c.1228G>A (p.Glu410Lys)
NM_012202.5(GNG3):c.12_13dup (p.Thr5fs)
NM_012222.2(MUTYH):c.567+1del rs1553128712
NM_012280.4(FTSJ1):c.161G>C (p.Ser54Thr) rs1556967227
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)
NM_014225.6(PPP2R1A):c.548G>C (p.Arg183Pro)
NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln) rs121908532
NM_014271.4(IL1RAPL1):c.1489C>T (p.Arg497Ter)
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014362.4(HIBCH):c.371T>C (p.Leu124Pro) rs1553505302
NM_014365.3(HSPB8):c.515dup (p.Pro173fs)
NM_014780.4(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334
NM_014783.6(ARHGAP11A):c.2370_2371del (p.Thr790_Cys791insTer) rs555387669
NM_014822.4(SEC24D):c.1824+1G>T
NM_014822.4(SEC24D):c.1980_1988del (p.Lys660_Asn662del)
NM_014845.5(FIG4):c.2459+1G>A rs747768373
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014946.3(SPAST):c.1459A>G (p.Asn487Asp) rs1553318323
NM_014946.3(SPAST):c.1634C>G (p.Ser545Ter) rs869312949
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del) rs1553317028
NM_014946.4(SPAST):c.1496G>A rs878854991
NM_015001.3(SPEN):c.3793C>T (p.Arg1265Ter)
NM_015001.3(SPEN):c.3976del (p.Lys1325_Ile1326insTer)
NM_015001.3(SPEN):c.6641_6642del (p.Glu2214fs)
NM_015001.3(SPEN):c.6974_6975del (p.Leu2325fs)
NM_015021.3(ZNF292):c.5515_5569del (p.Glu1839fs)
NM_015021.3(ZNF292):c.6661_6664del (p.Leu2221fs)
NM_015039.4(NMNAT2):c.403dup (p.Gln135fs) rs775499191
NM_015039.4(NMNAT2):c.695G>A (p.Arg232Gln) rs768849266
NM_015046.7(SETX):c.340CTT[1] (p.Leu115del) rs587776537
NM_015047.3(EMC1):c.1751C>A (p.Pro584His) rs1553252938
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625
NM_015100.4(POGZ):c.3591_3592del (p.Ser1197fs)
NM_015125.4(CIC):c.4040+2T>C rs1555773152
NM_015133.5(MAPK8IP3):c.65del (p.Gly22fs) rs1567128142
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291
NM_015160.3(PMPCA):c.1130C>T (p.Ala377Val) rs963172852
NM_015189.3(EXOC6B):c.1801-2A>G rs1553417206
NM_015215.4(CAMTA1):c.766C>T (p.Gln256Ter) rs1553238271
NM_015259.6(ICOSLG):c.55+1G>T rs1165558487
NM_015330.6(SPECC1L):c.1324_1326del (p.Lys442del)
NM_015335.4(MED13L):c.3935-2A>G rs1555244216
NM_015335.4(MED13L):c.5033T>A (p.Val1678Asp) rs1555243099
NM_015335.5(MED13L):c.2605C>T (p.Pro869Ser)
NM_015443.4(KANSL1):c.2837+1G>A
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs) rs758673417
NM_015559.3(SETBP1):c.4000+2T>G
NM_015642.6(ZBTB20):c.1037dup (p.Gly347fs) rs1553794464
NM_015915.5(ATL1):c.1220A>T (p.Lys407Met)
NM_016035.5(COQ4):c.202G>C (p.Asp68His) rs758522459
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys) rs1045118320
NM_016169.4(SUFU):c.597+1G>A rs1590062006
NM_016180.5(SLC45A2):c.454T>C (p.Phe152Leu) rs202120684
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593
NM_016219.5(MAN1B1):c.620+1del rs1564278864
NM_016239.3(MYO15A):c.8183G>A rs184435771
NM_016239.4(MYO15A):c.4547T>G (p.Leu1516Arg) rs1555543296
NM_016335.6(PRODH):c.1652A>C (p.Tyr551Ser) rs142346005
NM_016401.4(HIKESHI):c.164A>G (p.Tyr55Cys) rs1387003933
NM_016729.3(FOLR1):c.639G>A (p.Trp213Ter) rs757554598
NM_016955.4(SEPSECS):c.355A>G (p.Asn119Asp) rs1553881788
NM_017415.3(KLHL3):c.1079G>A (p.Arg360Gln) rs1561586322
NM_017635.5(KMT5B):c.970T>G (p.Cys324Gly) rs1555027828
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys)
NM_017739.3(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562
NM_017775.4(TTC19):c.1A>G (p.Met1Val) rs749196122
NM_017780.4(CHD7):c.3059T>C (p.Leu1020Ser) rs1057521077
NM_017780.4(CHD7):c.3201+1G>T
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017807.4(OSGEP):c.319G>A (p.Val107Met) rs140583554
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys) rs374322839
NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp) rs761839638
NM_017837.4(PIGV):c.1253C>A (p.Ala418Asp)
NM_017841.2(SDHAF2):c.305_306insA (p.Asn103fs) rs753554501
NM_017841.2(SDHAF2):c.347G>A (p.Trp116Ter) rs876658350
NM_017841.2(SDHAF2):c.371-2A>G rs375280597
NM_017841.4(SDHAF2):c.233G>A (p.Gly78Glu) rs1590764905
NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter) rs750979204
NM_017849.3(TMEM127):c.245-1G>C rs121908821
NM_017849.3(TMEM127):c.410-2A>G rs121908826
NM_017849.3(TMEM127):c.464T>A (p.Leu155Ter) rs886039439
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_017934.7(PHIP):c.328C>T (p.Arg110Cys)
NM_017946.4(FKBP14):c.467_468del (p.Leu155_Ser156insTer) rs753775062
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys) rs773023974
NM_018006.5(TRMU):c.671T>G (p.Ile224Ser) rs926748713
NM_018052.5(VAC14):c.2005G>T (p.Val669Leu) rs1363536856
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) rs750871999
NM_018082.6(POLR3B):c.1263+1G>A rs1565893138
NM_018116.4(MSTO1):c.887_888del (p.Leu296fs)
NM_018122.5(DARS2):c.549G>A (p.Met183Ile) rs869312930
NM_018194.6(HHAT):c.1A>T (p.Met1Leu) rs1340611668
NM_018206.6(VPS35):c.1463A>G (p.Gln488Arg) rs797044948
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_019023.5(PRMT7):c.1480T>C (p.Trp494Arg) rs751670999
NM_019042.5(PUS7):c.398+1G>T rs1264890888
NM_019074.4(DLL4):c.1679_1689del (p.Pro560fs) rs1555393172
NM_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys) rs1555988422
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1687C>T (p.Arg563Cys)
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_020338.4(ZMIZ1):c.3042dup (p.Glu1015fs)
NM_020376.4(PNPLA2):c.187+1G>C rs1554975332
NM_020435.4(GJC2):c.679T>A (p.Phe227Ile) rs1553262546
NM_020435.4(GJC2):c.83T>C (p.Leu28Pro) rs1553262430
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp) rs139515727
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu) rs754097561
NM_020699.4(GATAD2B):c.597+1G>A rs1570929867
NM_020699.4(GATAD2B):c.730-1G>T
NM_020738.4(KIDINS220):c.4171_4175del (p.Ile1391fs)
NM_020779.4(WDR35):c.24+1G>T
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371
NM_020791.4(TAOK1):c.449G>T (p.Arg150Ile)
NM_020812.4(DOCK6):c.4650+1_4650+3del rs1280482569
NM_020822.3(KCNT1):c.1429G>A (p.Ala477Thr) rs1564367605
NM_020822.3(KCNT1):c.800T>C (p.Met267Thr) rs1564354299
NM_020971.3(SPTBN4):c.7453del (p.Ala2485fs) rs1555721549
NM_020975.6(RET):c.1817A>G (p.Tyr606Cys) rs377767395
NM_020988.3(GNAO1):c.1030_1032del (p.Ile344del)
NM_020988.3(GNAO1):c.116T>C (p.Leu39Pro) rs1555499769
NM_020988.3(GNAO1):c.520G>A (p.Asp174Asn) rs1567488305
NM_020988.3(GNAO1):c.550G>C (p.Gly184Arg) rs1555507383
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_021614.4(KCNN2):c.1598_1600del (p.Leu533del) rs1554086554
NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.4(TRPV4):c.842A>C (p.Tyr281Ser) rs1555208063
NM_021870.3(FGG):c.1030G>A (p.Asp344Asn) rs1553965518
NM_021911.2(GABRB2):c.626A>C (p.Gln209Pro) rs1554094278
NM_021956.5(GRIK2):c.1969G>A (p.Ala657Thr)
NM_021964.2(ZNF148):c.1581_1582insC (p.Lys528fs) rs1057519268
NM_021971.4(GMPPB):c.1027G>C (p.Val343Leu)
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550
NM_022068.3(PIEZO2):c.4088T>C (p.Leu1363Pro) rs1555638058
NM_022068.3(PIEZO2):c.4092+1G>C rs1555638052
NM_022081.6(HPS4):c.1966_1967dup (p.Ala657fs)
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_022167.4(XYLT2):c.1687C>T (p.Arg563Cys) rs150417924
NM_022455.4(NSD1):c.4756T>C (p.Cys1586Arg) rs1554198434
NM_022552.5(DNMT3A):c.1643T>C (p.Met548Thr)
NM_022893.4(BCL11A):c.2194dup (p.Arg732fs)
NM_022893.4(BCL11A):c.55+1G>A
NM_022893.4(BCL11A):c.794del (p.Leu265fs)
NM_022970.3(FGFR2):c.1087+1054_1087+1257del rs1554928978
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr) rs531254130
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904
NM_024298.5(MBOAT7):c.855-2A>G
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_024417.5(FDXR):c.221C>T (p.Pro74Leu) rs746953590
NM_024417.5(FDXR):c.394-1G>C
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)
NM_024422.6(DSC2):c.1521-1G>A rs886039128
NM_024496.4(IRF2BPL):c.2152del (p.Cys718fs) rs1555377234
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631
NM_024665.6(TBL1XR1):c.1108G>A (p.Asp370Asn) rs1057517933
NM_024665.6(TBL1XR1):c.1341T>G (p.Ser447Arg) rs1553808295
NM_024665.6(TBL1XR1):c.991A>T (p.Ile331Phe) rs1553810244
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.18G>T (p.Gly6=) rs587782462
NM_024675.3(PALB2):c.211+1G>A rs1555462026
NM_024675.3(PALB2):c.212-2A>G rs730881879
NM_024675.3(PALB2):c.2515-1G>A rs587776417
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>A rs587776419
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.2996+1G>T rs886039626
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>C rs587776423
NM_024675.3(PALB2):c.3201+1G>T rs587776423
NM_024675.3(PALB2):c.3201+3A>C rs876660215
NM_024675.3(PALB2):c.3202-1G>A rs515726111
NM_024675.3(PALB2):c.3202-2A>C rs1060499827
NM_024675.3(PALB2):c.3350+4A>C rs180177136
NM_024675.3(PALB2):c.3351-2A>G rs1060502764
NM_024675.3(PALB2):c.3G>A (p.Met1Ile) rs1057517585
NM_024675.3(PALB2):c.48+1G>A rs515726118
NM_024675.3(PALB2):c.48+1G>C rs515726118
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_024675.4(PALB2):c.108+1G>A rs1060499814
NM_024675.4(PALB2):c.108+1_108+2insC rs1597101776
NM_024675.4(PALB2):c.108+2_108+12delinsCGGC rs1597101736
NM_024675.4(PALB2):c.109-2A>C rs730881897
NM_024675.4(PALB2):c.2834+2T>C rs864622481
NM_024675.4(PALB2):c.3113+1G>A rs1597079557
NM_024675.4(PALB2):c.3350+5G>A rs587782566
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_024675.4(PALB2):c.3351-1G>C rs1597062406
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.48+1del rs1060499829
NM_024685.4(BBS10):c.1804G>T (p.Val602Leu) rs778431173
NM_024757.5(EHMT1):c.1307C>T (p.Pro436Leu) rs869312936
NM_024818.6(UBA5):c.638C>T (p.Ser213Leu)
NM_025077.4(TOE1):c.-35C>T rs1553136984
NM_025077.4(TOE1):c.539T>A (p.Leu180Gln)
NM_025132.4(WDR19):c.2646-2A>G
NM_025132.4(WDR19):c.2891T>C (p.Leu964Pro)
NM_025152.3(NUBPL):c.257-2A>G
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) rs397515440
NM_025216.3(WNT10A):c.725T>G (p.Met242Arg) rs370462053
NM_030621.4(DICER1):c.2650+1G>A rs886037691
NM_030621.4(DICER1):c.4050+1G>A rs875989783
NM_030621.4(DICER1):c.4051-1G>A rs1595354013
NM_030630.3(HID1):c.1009-1G>T
NM_030630.3(HID1):c.2002C>T (p.Arg668Ter)
NM_030632.3(ASXL3):c.3039+2T>A rs1555743005
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030632.3(ASXL3):c.5623A>T (p.Lys1875Ter)
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_031263.4(HNRNPK):c.248G>A (p.Gly83Asp) rs1064794967
NM_031263.4(HNRNPK):c.65G>A (p.Arg22His) rs1397068742
NM_031263.4(HNRNPK):c.676_678del (p.Asp226del)
NM_031407.7(HUWE1):c.12904G>A (p.Gly4302Ser) rs1556909335
NM_031418.4(ANO3):c.922A>C (p.Ile308Leu) rs869312951
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.1186C>G (p.His396Asp) rs1603342316
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.1628+5G>A rs754929230
NM_032043.2(BRIP1):c.1936-1G>A rs1555601204
NM_032043.2(BRIP1):c.1936-2A>G rs878855143
NM_032043.2(BRIP1):c.2097+1G>C rs786202941
NM_032043.2(BRIP1):c.2258-1G>A rs1064793887
NM_032043.2(BRIP1):c.2379+1G>A rs1555590286
NM_032043.2(BRIP1):c.2492+2dup 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.3072del (p.Ser1025fs) rs1342519012
NM_032043.2(BRIP1):c.3173_3179delinsCTC (p.Leu1058fs) rs1555572799
NM_032043.2(BRIP1):c.3196del (p.Ser1066fs) rs730881645
NM_032043.2(BRIP1):c.3208del (p.Ser1070fs) rs748598593
NM_032043.2(BRIP1):c.3230T>G (p.Leu1077Ter) rs1420431000
NM_032043.2(BRIP1):c.3232A>T (p.Lys1078Ter) rs786202927
NM_032043.2(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.2(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
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.507G>A (p.Gln169=) rs876660937
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_629del rs1555609402
NM_032043.2(BRIP1):c.918+1G>A rs587781655
NM_032043.2(BRIP1):c.93+1G>T rs587782047
NM_032043.2:c.(627+1_628-1)_(1473+1_1474-1)dup
NM_032043.3(BRIP1):c.1341-3C>G rs864622597
NM_032043.3(BRIP1):c.1474-2A>G rs1603337052
NM_032043.3(BRIP1):c.1794+1G>A rs766516963
NM_032043.3(BRIP1):c.1795-1G>A rs1368457771
NM_032043.3(BRIP1):c.2492+1del rs1603293314
NM_032043.3(BRIP1):c.2905+1G>T rs876660203
NM_032043.3(BRIP1):c.2905+2T>C rs1603276502
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer) rs1603275367
NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs) rs1603275179
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs) rs778664039
NM_032043.3(BRIP1):c.508-1G>T rs864622277
NM_032043.3(BRIP1):c.627+1G>T rs587780833
NM_032043.3(BRIP1):c.918+2T>C rs1603346587
NM_032482.3(DOT1L):c.3882dup (p.Gly1295fs)
NM_032730.5(RTN4IP1):c.1084A>T (p.Ile362Phe)
NM_032888.4(COL27A1):c.3062G>A (p.Gly1021Asp) rs1554816354
NM_032982.4(CASP2):c.560_561del (p.His187fs)
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) rs104894361
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_052867.4(NALCN):c.986G>C (p.Arg329Thr)
NM_052874.5(STX1B):c.106-2A>G rs1567379470
NM_052874.5(STX1B):c.431G>T (p.Cys144Phe) rs1555494259
NM_052874.5(STX1B):c.768T>A (p.Tyr256Ter)
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_057175.5(NAA15):c.1410+1G>A rs1553996876
NM_057175.5(NAA15):c.1753G>A (p.Ala585Thr)
NM_058195.3(CDKN2A):c.193+5G>A rs587782083
NM_058197.4(CDKN2A):c.*125_*126delinsTT rs876658534
NM_058197.4(CDKN2A):c.*135del rs876658220
NM_058216.3(RAD51C):c.1004_1005delinsAA (p.Cys335Ter) rs1598535096
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