ClinVar Miner

List of variants reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1290
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HGVS dbSNP
HNF4A deletion
NM_000016.5(ACADM):c.454G>T (p.Glu152Ter) rs1557446524
NM_000016.5(ACADM):c.913G>T (p.Glu305Ter) rs1215335509
NM_000016.5(ACADM):c.928G>A (p.Gly310Arg) rs747268471
NM_000016.5(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_000018.4(ACADVL):c.1077+1G>T rs140989450
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs) rs1555528304
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.872C>G (p.Ser291Trp) rs121908721
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) rs569643246
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro) rs193922094
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000035.3(ALDOB):c.113-1_115delGGTA rs786204598
NM_000035.4(ALDOB):c.625-2A>G rs786204503
NM_000038.6(APC):c.1958+1_1958+2dup rs1561569606
NM_000038.6(APC):c.3035_3037delinsT (p.Asn1012fs) rs1554084650
NM_000038.6(APC):c.3854_3855dup (p.Glu1286fs) rs1561588017
NM_000038.6(APC):c.4054_4063del (p.Val1352fs) rs1561589459
NM_000038.6(APC):c.4831C>T (p.Gln1611Ter) rs774847203
NM_000038.6(APC):c.4873del (p.Gln1625fs) rs1554086262
NM_000038.6(APC):c.5152_5153delinsA (p.Ala1718fs) rs1561598017
NM_000038.6(APC):c.646-2A>G rs777848503
NM_000038.6(APC):c.677del (p.Lys226fs) rs863225371
NM_000046.5(ARSB):c.219_230delinsG (p.Asp73fs) rs1561197425
NM_000049.3(ASPA):c.237-2A>T rs780936696
NM_000049.3(ASPA):c.631G>T (p.Glu211Ter) rs1555539903
NM_000050.4(ASS1):c.450_451del (p.Phe150fs) rs786204648
NM_000051.3(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.3(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.3(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.3(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.3(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.2921+2dup rs1565424654
NM_000051.3(ATM):c.3284+1G>A rs864622129
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.6095+1G>A rs587781584
NM_000051.3(ATM):c.6280G>T (p.Glu2094Ter) rs1565503182
NM_000051.3(ATM):c.7858del (p.Val2620fs) rs1555125349
NM_000051.3(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.3(ATM):c.8293G>A (p.Gly2765Ser) rs748634900
NM_000051.3(ATM):c.8549T>A (p.Leu2850Ter) rs876658716
NM_000053.4(ATP7B):c.1820dup (p.Phe608fs) rs1057516940
NM_000053.4(ATP7B):c.1946+6T>C rs751287778
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2122-8T>G rs193922102
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter) rs770020484
NM_000053.4(ATP7B):c.2575+1G>C rs766149114
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs) rs1555287300
NM_000053.4(ATP7B):c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100fs) rs1566468816
NM_000053.4(ATP7B):c.3301_3302insCCAGGCAGTGCCAG (p.Gly1101fs) rs1566468784
NM_000053.4(ATP7B):c.3556+1G>A rs184388696
NM_000053.4(ATP7B):c.3556+1G>T rs184388696
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter) rs911589273
NM_000054.6(AVPR2):c.176T>C (p.Leu59Pro) rs193922112
NM_000054.6(AVPR2):c.290T>C (p.Leu97Pro) rs193922113
NM_000054.6(AVPR2):c.409C>G (p.Arg137Gly) rs104894761
NM_000054.6(AVPR2):c.424del (p.Cys142fs) rs193922114
NM_000054.6(AVPR2):c.472del (p.Arg158fs) rs193922115
NM_000054.6(AVPR2):c.554del (p.Gly185fs) rs193922116
NM_000054.6(AVPR2):c.673C>T (p.Gln225Ter) rs193922117
NM_000054.6(AVPR2):c.752_758del (p.Arg251fs) rs193922118
NM_000054.6(AVPR2):c.770del (p.Gly257fs) rs193922119
NM_000054.6(AVPR2):c.819_821del (p.Leu274del) rs193922120
NM_000054.6(AVPR2):c.853G>C (p.Ala285Pro) rs193922122
NM_000054.6(AVPR2):c.963C>A (p.Asn321Lys) rs193922123
NM_000056.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.3210+2del rs587779886
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000059.3(BRCA2):c.1179T>A (p.Cys393Ter) rs786201237
NM_000059.3(BRCA2):c.1202C>A (p.Ser401Ter) rs80358413
NM_000059.3(BRCA2):c.1379del (p.Asn460fs) rs1064793945
NM_000059.3(BRCA2):c.1648G>T (p.Glu550Ter) rs1555281999
NM_000059.3(BRCA2):c.1733del (p.Gly578fs) rs879255326
NM_000059.3(BRCA2):c.1792dup (p.Thr598fs) rs886040389
NM_000059.3(BRCA2):c.1841_1842dup (p.Asn615fs) rs80359312
NM_000059.3(BRCA2):c.1846del (p.Cys616fs) rs1566224496
NM_000059.3(BRCA2):c.1850C>A (p.Ser617Ter) rs397507278
NM_000059.3(BRCA2):c.2176del (p.Val726fs) rs1555282499
NM_000059.3(BRCA2):c.2251dup (p.Thr751fs) rs886040416
NM_000059.3(BRCA2):c.2253_2254del (p.Asp752fs) rs398122744
NM_000059.3(BRCA2):c.2480dup (p.Asn827fs) rs397507286
NM_000059.3(BRCA2):c.2581C>T (p.Gln861Ter) rs773356478
NM_000059.3(BRCA2):c.2687_2688insGA (p.Asn896fs) rs1555282795
NM_000059.3(BRCA2):c.2731del (p.Glu911fs) rs80359344
NM_000059.3(BRCA2):c.2989_2990del (p.Leu997fs) rs1555282990
NM_000059.3(BRCA2):c.2T>C (p.Met1Thr) rs80358547
NM_000059.3(BRCA2):c.3076_3077del (p.Lys1026fs) rs1057517566
NM_000059.3(BRCA2):c.3273_3276del (p.Leu1091fs) rs80359382
NM_000059.3(BRCA2):c.3385C>T (p.Gln1129Ter) rs1555283209
NM_000059.3(BRCA2):c.3436G>T (p.Glu1146Ter) rs1237049560
NM_000059.3(BRCA2):c.3479_3480GA[3] (p.Asp1161fs) rs878853569
NM_000059.3(BRCA2):c.3649del (p.Arg1217fs) rs864622134
NM_000059.3(BRCA2):c.3703C>T (p.Gln1235Ter) rs1555283366
NM_000059.3(BRCA2):c.3738_3741del (p.Asn1246fs) rs1555283381
NM_000059.3(BRCA2):c.376C>T (p.Gln126Ter) rs1555280859
NM_000059.3(BRCA2):c.3914_3915del (p.Phe1305fs) rs397507698
NM_000059.3(BRCA2):c.3935dup (p.Asn1312fs) rs1566229411
NM_000059.3(BRCA2):c.3937del (p.Tyr1313fs) rs1566229421
NM_000059.3(BRCA2):c.3968_3971del (p.Lys1323fs) rs886040505
NM_000059.3(BRCA2):c.3972T>G (p.Tyr1324Ter) rs1131692119
NM_000059.3(BRCA2):c.4007_4008insCATC (p.Asp1337fs) rs878853577
NM_000059.3(BRCA2):c.4092_4093insAA (p.Cys1365fs) rs876658329
NM_000059.3(BRCA2):c.4218_4221del (p.Lys1406fs) rs80359435
NM_000059.3(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.3(BRCA2):c.4263dup (p.Glu1422Ter) rs1555283664
NM_000059.3(BRCA2):c.4270dup (p.Ser1424fs) rs1555283672
NM_000059.3(BRCA2):c.4305_4309del (p.Asn1435fs) rs1566230041
NM_000059.3(BRCA2):c.4570_4573del (p.Phe1524fs) rs1057517565
NM_000059.3(BRCA2):c.4591A>T (p.Lys1531Ter) rs1555283865
NM_000059.3(BRCA2):c.476-4_476-1delCCAGinsT rs587782880
NM_000059.3(BRCA2):c.4822G>T (p.Glu1608Ter) rs1566231194
NM_000059.3(BRCA2):c.4894_4895del (p.Ser1632fs) rs397507748
NM_000059.3(BRCA2):c.4921G>T (p.Glu1641Ter) rs1566231364
NM_000059.3(BRCA2):c.5076del (p.Trp1692fs) rs876660524
NM_000059.3(BRCA2):c.5195del (p.Leu1732fs) rs587779363
NM_000059.3(BRCA2):c.5200dup (p.Glu1734fs) rs1555284103
NM_000059.3(BRCA2):c.5201_5205delinsGAAAAG (p.Glu1734fs) rs483353082
NM_000059.3(BRCA2):c.5362_5363delinsA (p.Ser1788fs) rs1566232310
NM_000059.3(BRCA2):c.5362dup (p.Ser1788fs) rs587781849
NM_000059.3(BRCA2):c.5653del (p.Cys1885fs) rs886040602
NM_000059.3(BRCA2):c.6116T>G (p.Leu2039Ter) rs1555284559
NM_000059.3(BRCA2):c.6155dup (p.Ser2053fs) rs1566234047
NM_000059.3(BRCA2):c.6235_6236GT[1] (p.Leu2080fs)
NM_000059.3(BRCA2):c.632-1dup rs1566220586
NM_000059.3(BRCA2):c.6393del (p.Lys2131fs) rs886038145
NM_000059.3(BRCA2):c.6437_6440dup (p.His2147fs) rs397507855
NM_000059.3(BRCA2):c.6762del (p.Phe2254fs) rs80359624
NM_000059.3(BRCA2):c.681+4A>G rs397507884
NM_000059.3(BRCA2):c.6938-2A>G rs81002863
NM_000059.3(BRCA2):c.6976del (p.Ser2326fs) rs886040679
NM_000059.3(BRCA2):c.6999dup (p.Pro2334fs) rs1566237861
NM_000059.3(BRCA2):c.7097dup (p.Thr2367fs) rs786202600
NM_000059.3(BRCA2):c.7110dup (p.Ser2371fs) rs80359638
NM_000059.3(BRCA2):c.7147dup (p.Tyr2383fs) rs878853599
NM_000059.3(BRCA2):c.718_719del (p.Leu240fs) rs1555281459
NM_000059.3(BRCA2):c.7274del (p.Asn2425fs) rs1566241084
NM_000059.3(BRCA2):c.7403dup (p.Thr2469fs) rs1555286105
NM_000059.3(BRCA2):c.7414_7415del (p.Lys2472fs) rs80359650
NM_000059.3(BRCA2):c.7419T>A (p.Cys2473Ter) rs1555286120
NM_000059.3(BRCA2):c.7423G>T (p.Glu2475Ter) rs1566241336
NM_000059.3(BRCA2):c.7525dup (p.Ser2509fs) rs80359656
NM_000059.3(BRCA2):c.7568dup (p.Lys2524fs) rs1566242125
NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.3(BRCA2):c.799G>T (p.Gly267Ter) rs786202796
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.8332-1G>T rs397507979
NM_000059.3(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082
NM_000059.3(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.3(BRCA2):c.8501del (p.Thr2834fs) rs80359712
NM_000059.3(BRCA2):c.8868dup (p.Gln2957fs) rs1555288386
NM_000059.3(BRCA2):c.8954-5A>G rs886040949
NM_000059.3(BRCA2):c.9041C>G (p.Ser3014Ter) rs80359156
NM_000059.3(BRCA2):c.9254del (p.Thr3085fs) rs1555288587
NM_000059.3(BRCA2):c.9256_9256+1delGGinsTA rs587781422
NM_000059.3(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.3(BRCA2):c.9465_9466insTGAT (p.Gln3156Ter) rs1555289602
NM_000059.3(BRCA2):c.9501+1G>T rs397508058
NM_000059.3(BRCA2):c.9766_9770del (p.Glu3256fs) rs1555289953
NM_000059.3(BRCA2):c.9770_9771del (p.Lys3257fs) rs1566260997
NM_000061.2(BTK):c.1138C>T (p.Gln380Ter) rs1569292021
NM_000061.2(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
NM_000061.2(BTK):c.1511A>T (p.Asp504Val) rs193922125
NM_000061.2(BTK):c.164C>A (p.Ser55Ter) rs1555980796
NM_000061.2(BTK):c.1673_1680del (p.Lys558fs) rs193922126
NM_000061.2(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.2(BTK):c.240G>A (p.Pro80=) rs1569296295
NM_000061.2(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.2(BTK):c.472_475del (p.Thr158fs) rs193922128
NM_000061.2(BTK):c.588+1G>T rs1569293252
NM_000061.2(BTK):c.588+2T>A rs1555978777
NM_000061.2(BTK):c.777-2A>G rs193922129
NM_000061.2(BTK):c.799_806del (p.Asn267fs) rs1555978412
NM_000061.2(BTK):c.840-1G>A rs193922131
NM_000061.2(BTK):c.895-2A>G rs193922132
NM_000061.2(BTK):c.998A>G (p.His333Arg) rs193922133
NM_000071.2(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.2(CBS):c.457G>A (p.Gly153Arg)
NM_000071.2(CBS):c.667-14_667-7del rs764160782
NM_000071.2(CBS):c.959T>C (p.Val320Ala) rs781567152
NM_000074.2(CD40LG):c.189del (p.Phe63fs) rs193922134
NM_000074.2(CD40LG):c.288+1G>A rs1569376229
NM_000074.2(CD40LG):c.632C>A (p.Thr211Asn) rs1569377829
NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_000088.3(COL1A1):c.1021G>T (p.Gly341Cys) rs193922137
NM_000088.3(COL1A1):c.1235C>G (p.Pro412Arg) rs193922138
NM_000088.3(COL1A1):c.1299+5G>A rs193922139
NM_000088.3(COL1A1):c.1544G>C (p.Gly515Ala) rs193922140
NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) rs144751329
NM_000088.3(COL1A1):c.1657del (p.Thr553fs) rs193922141
NM_000088.3(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000088.3(COL1A1):c.2062C>T (p.Gln688Ter) rs193922144
NM_000088.3(COL1A1):c.2161C>T (p.Gln721Ter) rs193922145
NM_000088.3(COL1A1):c.2398-1G>C rs193922147
NM_000088.3(COL1A1):c.2418del (p.Gly809fs) rs193922148
NM_000088.3(COL1A1):c.2450del (p.Pro817fs) rs193922149
NM_000088.3(COL1A1):c.2594G>A (p.Arg865His) rs193922150
NM_000088.3(COL1A1):c.2685del (p.Gly896fs) rs193922151
NM_000088.3(COL1A1):c.2897A>G (p.Gln966Arg) rs193922152
NM_000088.3(COL1A1):c.2897_2898AG[2] (p.Gly968fs) rs1555572406
NM_000088.3(COL1A1):c.299_300delAG rs193922154
NM_000088.3(COL1A1):c.370-2A>G rs193922155
NM_000088.3(COL1A1):c.517G>T (p.Gly173Ter) rs193922157
NM_000088.3(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.3(COL1A1):c.751-2A>G rs193922158
NM_000088.3(COL1A1):c.805G>A (p.Gly269Ser) rs72645328
NM_000089.3(COL1A2):c.1148C>A (p.Pro383His) rs193922159
NM_000089.3(COL1A2):c.1873G>A (p.Gly625Ser) rs193922162
NM_000089.3(COL1A2):c.1991G>A (p.Gly664Asp) rs72658154
NM_000089.3(COL1A2):c.1999G>T (p.Gly667Cys) rs1554397369
NM_000089.3(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000089.3(COL1A2):c.3106-2delA rs193922166
NM_000089.3(COL1A2):c.3284del (p.Pro1095fs) rs193922167
NM_000089.3(COL1A2):c.3355G>C (p.Ala1119Pro) rs193922168
NM_000089.3(COL1A2):c.677G>A (p.Gly226Asp) rs193922173
NM_000089.3(COL1A2):c.845_847GTG[1] (p.Gly283del) rs193922175
NM_000090.3(COL3A1):c.1106G>T (p.Gly369Val) rs1057521930
NM_000090.3(COL3A1):c.1691G>C (p.Gly564Ala) rs193922176
NM_000090.3(COL3A1):c.1762G>A (p.Gly588Ser) rs1553508338
NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser) rs587779723
NM_000090.3(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.3(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.3(COL3A1):c.447+1G>A rs1559053022
NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp) rs587779673
NM_000091.4(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590
NM_000098.3(CPT2):c.1567_1568CA[1] (p.His523fs)
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000110.3(DPYD):c.2043_2058del (p.Leu682fs) rs773499329
NM_000110.3(DPYD):c.208C>T (p.Arg70Ter) rs141597515
NM_000110.3(DPYD):c.2846A>T (p.Asp949Val) rs67376798
NM_000110.3(DPYD):c.658C>T (p.Gln220Ter) rs1220608789
NM_000110.3(DPYD):c.661G>T (p.Glu221Ter) rs146170505
NM_000112.3(SLC26A2):c.1707C>G (p.Tyr569Ter) rs766836061
NM_000112.3(SLC26A2):c.451del (p.Tyr151fs) rs786204675
NM_000112.3(SLC26A2):c.483_484TG[1] (p.Val162fs) rs763198695
NM_000112.3(SLC26A2):c.55G>T (p.Gly19Ter) rs386833507
NM_000117.2(EMD):c.470G>A (p.Arg157Gln) rs148515772
NM_000127.2(EXT1):c.1315_1337dup (p.Lys447_His448insHisValThrValTer) rs1563571296
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_000137.3(FAH):c.192+1G>T rs786204683
NM_000138.4(FBN1):c.1088del (p.Gly363fs) rs1555400598
NM_000138.4(FBN1):c.1148-2A>G rs397515756
NM_000138.4(FBN1):c.1211del (p.Pro404fs) rs112289537
NM_000138.4(FBN1):c.1375_1376CT[1] (p.Cys460fs)
NM_000138.4(FBN1):c.1426T>C (p.Cys476Arg) rs794728326
NM_000138.4(FBN1):c.1459G>T (p.Glu487Ter) rs1555400374
NM_000138.4(FBN1):c.1511G>C (p.Cys504Ser) rs1156747241
NM_000138.4(FBN1):c.1634G>A (p.Arg545His) rs193922179
NM_000138.4(FBN1):c.164+2T>A rs727503058
NM_000138.4(FBN1):c.1669_1677dup (p.Cys557_Ala559dup) rs193922181
NM_000138.4(FBN1):c.1709del (p.Cys570fs) rs193922182
NM_000138.4(FBN1):c.1710T>A (p.Cys570Ter) rs193922183
NM_000138.4(FBN1):c.1868G>T (p.Cys623Phe) rs1566914030
NM_000138.4(FBN1):c.1888A>T (p.Asn630Tyr) rs1555399821
NM_000138.4(FBN1):c.1916G>C (p.Cys639Ser) rs878853676
NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.4(FBN1):c.1A>C (p.Met1Leu) rs730880097
NM_000138.4(FBN1):c.2057C>A (p.Ala686Asp) rs193922186
NM_000138.4(FBN1):c.2094_2095GT[1] (p.Cys699fs) rs1555399748
NM_000138.4(FBN1):c.2131T>C (p.Cys711Arg) rs1555399481
NM_000138.4(FBN1):c.2186del (p.Leu729fs) rs193922187
NM_000138.4(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.4(FBN1):c.2242T>C (p.Cys748Arg) rs397515765
NM_000138.4(FBN1):c.2243G>A (p.Cys748Tyr) rs1064794282
NM_000138.4(FBN1):c.2369G>C (p.Cys790Ser) rs193922188
NM_000138.4(FBN1):c.2479T>C (p.Ser827Pro) rs193922189
NM_000138.4(FBN1):c.2542A>C (p.Thr848Pro) rs193922191
NM_000138.4(FBN1):c.266G>C (p.Cys89Ser) rs112660651
NM_000138.4(FBN1):c.2677G>C (p.Asp893His) rs193922193
NM_000138.4(FBN1):c.2682del (p.Ile895fs) rs193922194
NM_000138.4(FBN1):c.2855-1G>C rs112202622
NM_000138.4(FBN1):c.2939G>T (p.Cys980Phe) rs1555398816
NM_000138.4(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.4(FBN1):c.3024T>A (p.Cys1008Ter) rs1057523654
NM_000138.4(FBN1):c.3140_3141del (p.Thr1047fs) rs193922197
NM_000138.4(FBN1):c.3187dup (p.Ser1063fs) rs1566909885
NM_000138.4(FBN1):c.3193del (p.Glu1065fs) rs193922198
NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.4(FBN1):c.3463G>A (p.Asp1155Asn) rs794728204
NM_000138.4(FBN1):c.3478G>T (p.Glu1160Ter) rs193922199
NM_000138.4(FBN1):c.3513C>G (p.Cys1171Trp) rs775417975
NM_000138.4(FBN1):c.385T>A (p.Cys129Ser) rs199474693
NM_000138.4(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.4(FBN1):c.4060del (p.Trp1354fs) rs1555397707
NM_000138.4(FBN1):c.4165T>G (p.Cys1389Gly) rs193922203
NM_000138.4(FBN1):c.441del (p.Gln147fs) rs1555405028
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.454A>T (p.Ser152Cys) rs193922206
NM_000138.4(FBN1):c.4551del (p.Phe1517fs) rs1555397201
NM_000138.4(FBN1):c.4562del (p.Pro1521fs) rs886039035
NM_000138.4(FBN1):c.4607del (p.Leu1536fs) rs1555397173
NM_000138.4(FBN1):c.4640_4641del (p.Thr1547fs) rs1555397163
NM_000138.4(FBN1):c.4684T>A (p.Cys1562Ser) rs193922207
NM_000138.4(FBN1):c.4812_4813delinsCT (p.Leu1604_Glu1605delinsPheTer) rs1566903995
NM_000138.4(FBN1):c.484G>A (p.Ala162Thr) rs193922210
NM_000138.4(FBN1):c.5014T>G (p.Cys1672Gly) rs112930491
NM_000138.4(FBN1):c.510C>G (p.Tyr170Ter) rs111671429
NM_000138.4(FBN1):c.5422+2T>C rs1555396417
NM_000138.4(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.4(FBN1):c.5512G>T (p.Gly1838Cys) rs397515823
NM_000138.4(FBN1):c.5521_5528del (p.Phe1841fs) rs193922212
NM_000138.4(FBN1):c.5552A>G (p.Asn1851Ser) rs193922214
NM_000138.4(FBN1):c.556T>C (p.Cys186Arg) rs193922215
NM_000138.4(FBN1):c.5587G>A (p.Gly1863Arg) rs1555395987
NM_000138.4(FBN1):c.5663del (p.Met1888fs) rs1555395972
NM_000138.4(FBN1):c.5671G>C (p.Asp1891His) rs193922216
NM_000138.4(FBN1):c.56C>T (p.Ser19Phe) rs193922218
NM_000138.4(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.4(FBN1):c.5874C>A (p.Cys1958Ter) rs1555395750
NM_000138.4(FBN1):c.5943del (p.Arg1982fs) rs1555395661
NM_000138.4(FBN1):c.6006_6012dup (p.Ser2005fs) rs193922220
NM_000138.4(FBN1):c.6276G>A (p.Trp2092Ter) rs1555395260
NM_000138.4(FBN1):c.6354C>G (p.Ile2118Met) rs112989722
NM_000138.4(FBN1):c.6385G>T (p.Asp2129Tyr) rs193922223
NM_000138.4(FBN1):c.649T>G (p.Trp217Gly) rs193922224
NM_000138.4(FBN1):c.6553_6556dup (p.Gly2186fs) rs193922225
NM_000138.4(FBN1):c.6704del (p.Gly2235fs) rs193922226
NM_000138.4(FBN1):c.6793_6800dup (p.Leu2268fs) rs193922227
NM_000138.4(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709
NM_000138.4(FBN1):c.7168T>C (p.Cys2390Arg) rs397515847
NM_000138.4(FBN1):c.7229A>C (p.His2410Pro) rs193922230
NM_000138.4(FBN1):c.7387G>T (p.Glu2463Ter) rs1566892735
NM_000138.4(FBN1):c.7432_7435del (p.Glu2478fs) rs1057518012
NM_000138.4(FBN1):c.7491_7498delinsAGCAACACAACCAAACAACACAATG (p.Phe2498fs) rs1566891846
NM_000138.4(FBN1):c.7678del (p.Gln2560fs) rs193922235
NM_000138.4(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.4(FBN1):c.7732C>T (p.Gln2578Ter) rs765942432
NM_000138.4(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
NM_000138.4(FBN1):c.7879G>A (p.Gly2627Arg) rs193922239
NM_000138.4(FBN1):c.7898G>C (p.Cys2633Ser) rs193922240
NM_000138.4(FBN1):c.8203del (p.Glu2735fs) rs193922241
NM_000138.4(FBN1):c.8357_8358CT[1] (p.Leu2787fs)
NM_000138.4(FBN1):c.8357_8358CT[3] (p.Leu2787_Thr2788insTer)
NM_000138.4(FBN1):c.8412_8417del (p.Lys2805_Ile2806del) rs193922246
NM_000143.3(FH):c.738+2T>C rs1060500901
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.1952del (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.858+2T>A rs1555599713
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter) rs766007316
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.203A>C (p.His68Pro) rs193922247
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.598C>T (p.Gln200Ter) rs1564101619
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.4(GALT):c.687+1G>T rs193922250
NM_000155.4(GALT):c.688-2A>C rs398123185
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter) rs1554709447
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802
NM_000155.4(GALT):c.98G>A (p.Arg33His) rs111033829
NM_000157.4(GBA):c.1052G>C (p.Trp351Ser) rs1553217294
NM_000157.4(GBA):c.1171G>C (p.Val391Leu) rs398123527
NM_000157.4(GBA):c.1250G>A (p.Trp417Ter) rs754743440
NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA):c.497A>T (p.Asp166Val) rs79796061
NM_000157.4(GBA):c.535G>C (p.Asp179His) rs147138516
NM_000157.4(GBA):c.680A>G (p.Asn227Ser) rs364897
NM_000159.3(GCDH):c.636-3_639delCAGGATC rs1555750535
NM_000159.3(GCDH):c.636-4_639delCCAGGATC rs775103982
NM_000159.4(GCDH):c.329_332del (p.Ile110fs) rs1555749434
NM_000162.3(GCK):c.679+1delG rs193922320
NM_000162.3:c.46_679dup
NM_000162.5(GCK):c.1002_1003delinsAA (p.Phe334_Val335delinsLeuMet) rs193922252
NM_000162.5(GCK):c.1003_1004insAA (p.Val335fs) rs193922253
NM_000162.5(GCK):c.1003del (p.Val335fs) rs193922254
NM_000162.5(GCK):c.1018A>G (p.Ser340Gly) rs193922255
NM_000162.5(GCK):c.1020-1G>C rs193922258
NM_000162.5(GCK):c.103A>T (p.Arg35Ter) rs193922259
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe) rs193922260
NM_000162.5(GCK):c.107G>C (p.Arg36Pro) rs193922261
NM_000162.5(GCK):c.1114G>T (p.Glu372Ter) rs193922262
NM_000162.5(GCK):c.1124C>T (p.Ser375Phe) rs193922263
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.5(GCK):c.1142T>G (p.Met381Arg) rs193922266
NM_000162.5(GCK):c.1153G>A (p.Gly385Arg) rs193922267
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) rs193922268
NM_000162.5(GCK):c.1160C>A (p.Ala387Glu) rs193921338
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1169T>A (p.Ile390Asn) rs193921340
NM_000162.5(GCK):c.1169T>C (p.Ile390Thr) rs193921340
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu) rs193922269
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly) rs193922271
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.1268T>A (p.Phe423Tyr) rs193922273
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln) rs193922274
NM_000162.5(GCK):c.1281_1282GC[1] (p.Arg428fs) rs193922275
NM_000162.5(GCK):c.1289T>C (p.Leu430Pro) rs193922277
NM_000162.5(GCK):c.1307T>A (p.Ile436Asn) rs193922278
NM_000162.5(GCK):c.131G>A (p.Gly44Asp) rs193922279
NM_000162.5(GCK):c.1332del (p.Ser445fs) rs193922280
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) rs193922281
NM_000162.5(GCK):c.1345G>A (p.Ala449Thr) rs193922282
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs) rs193922284
NM_000162.5(GCK):c.146C>A (p.Thr49Asn) rs193922286
NM_000162.5(GCK):c.175C>T (p.Pro59Ser) rs193922287
NM_000162.5(GCK):c.253A>T (p.Arg85Trp) rs193922290
NM_000162.5(GCK):c.304A>T (p.Lys102Ter) rs193922291
NM_000162.5(GCK):c.322T>G (p.Tyr108Asp) rs193922292
NM_000162.5(GCK):c.393del (p.Asp132fs) rs193922295
NM_000162.5(GCK):c.440G>A (p.Gly147Asp) rs193922296
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) rs193922297
NM_000162.5(GCK):c.463A>G (p.Arg155Gly) rs193922301
NM_000162.5(GCK):c.483G>A (p.Lys161=) rs193922302
NM_000162.5(GCK):c.509G>T (p.Gly170Val) rs193922303
NM_000162.5(GCK):c.527C>G (p.Ala176Gly) rs193922304
NM_000162.5(GCK):c.532G>A (p.Gly178Arg) rs193922305
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.563C>T (p.Ala188Val) rs193922307
NM_000162.5(GCK):c.57C>G (p.Ile19Met) rs193922308
NM_000162.5(GCK):c.587A>G (p.Glu196Gly) rs193922309
NM_000162.5(GCK):c.604A>G (p.Met202Val) rs193922310
NM_000162.5(GCK):c.615C>G (p.Asp205Glu) rs193922312
NM_000162.5(GCK):c.630G>T (p.Met210Ile) rs193922313
NM_000162.5(GCK):c.635_637del (p.Ser212del) rs193922314
NM_000162.5(GCK):c.658T>C (p.Cys220Arg) rs193922315
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr) rs193922316
NM_000162.5(GCK):c.661G>A (p.Glu221Lys) rs193922317
NM_000162.5(GCK):c.677T>C (p.Val226Ala) rs193922319
NM_000162.5(GCK):c.694G>A (p.Ala232Thr) rs193922322
NM_000162.5(GCK):c.704T>C (p.Met235Thr) rs193922323
NM_000162.5(GCK):c.74T>G (p.Leu25Arg) rs193922325
NM_000162.5(GCK):c.752T>C (p.Met251Thr) rs193922326
NM_000162.5(GCK):c.758T>C (p.Val253Ala) rs193921400
NM_000162.5(GCK):c.758T>G (p.Val253Gly) rs193921400
NM_000162.5(GCK):c.760A>C (p.Asn254His) rs193922327
NM_000162.5(GCK):c.768G>C (p.Glu256Asp) rs193922328
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.5(GCK):c.779T>C (p.Phe260Ser) rs193922330
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331
NM_000162.5(GCK):c.812T>C (p.Leu271Pro) rs193922332
NM_000162.5(GCK):c.833A>T (p.Asp278Val) rs193922333
NM_000162.5(GCK):c.907C>T (p.Arg303Trp) rs193922336
NM_000162.5(GCK):c.917T>C (p.Leu306Pro) rs193922337
NM_000162.5(GCK):c.947T>A (p.Phe316Tyr) rs193922339
NM_000162.5(GCK):c.952G>T (p.Gly318Trp) rs193922340
NM_000162.5(GCK):c.971T>C (p.Leu324Pro) rs193922341
NM_000169.2(GLA):c.1055_1056del (p.Ala352fs) rs1555984840
NM_000169.2(GLA):c.1057_1058del (p.Met353fs) rs886044829
NM_000169.2(GLA):c.1062_1076del (p.Asn355_Ile359del) rs1569302697
NM_000169.2(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.2(GLA):c.119C>T (p.Pro40Leu) rs398123199
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.266T>G (p.Leu89Arg) rs1569304886
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.444T>G (p.Ser148Arg) rs1569304190
NM_000169.2(GLA):c.59_72dup (p.Asp25fs) rs1555987175
NM_000169.2(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.2(GLA):c.640-1G>A
NM_000169.2(GLA):c.770C>T (p.Ala257Val) rs1569303218
NM_000169.2(GLA):c.802-2A>T rs797044499
NM_000169.2(GLA):c.848dup (p.Met284fs) rs1555985002
NM_000169.2(GLA):c.863del (p.Ala288fs) rs1569303030
NM_000169.2(GLA):c.874G>C (p.Ala292Pro) rs111812846
NM_000169.2(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) rs386833521
NM_000170.2(GLDC):c.2423_2426dup (p.Ile810fs) rs755313904
NM_000170.2(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530
NM_000170.2(GLDC):c.2891dup (p.Tyr964Ter) rs386833572
NM_000179.2(MSH6):c.1128_1132del (p.Arg378_Arg379insTer) rs1114167801
NM_000179.2(MSH6):c.1168_1170delinsAA (p.Asp390fs) rs863225398
NM_000179.2(MSH6):c.1255_1268del (p.Gln419fs) rs876661251
NM_000179.2(MSH6):c.1606_1609AGTA[1] (p.Lys537fs) rs771764652
NM_000179.2(MSH6):c.1933del (p.Glu645fs) rs1558663559
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2124_2126dup (p.Tyr709Ter) rs1558664335
NM_000179.2(MSH6):c.2535dup (p.Glu846Ter) rs587779241
NM_000179.2(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.2(MSH6):c.3108_3109del (p.Phe1037fs) rs1553414519
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.2(MSH6):c.3463C>T (p.Gln1155Ter) rs1553332166
NM_000179.2(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.2(MSH6):c.3556+1delG rs1064793489
NM_000179.2(MSH6):c.3574del (p.Val1192fs) rs1553332671
NM_000179.2(MSH6):c.3646+1G>T rs1553332772
NM_000179.2(MSH6):c.3660_3663dup (p.Phe1222fs) rs752404604
NM_000179.2(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.3814_3827dup (p.Asp1277fs) rs1558393070
NM_000179.2(MSH6):c.3841_3847dup (p.Ile1283fs) rs1114167720
NM_000179.2(MSH6):c.3850dup (p.Thr1284fs) rs1553333421
NM_000179.2(MSH6):c.3922_3944dup (p.Lys1315fs) rs1553333599
NM_000179.2(MSH6):c.3936_3951del (p.Ile1313fs) rs1553333635
NM_000179.2(MSH6):c.4001+1G>C rs1114167729
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) rs147103714
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs) rs868816467
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer) rs1553316176
NM_000182.5(HADHA):c.919-2A>G rs200017313
NM_000192.3(TBX5):c.985_987delinsAC (p.Glu329fs) rs1555223294
NM_000192.3(TBX5):c.985_987delinsAG (p.Glu329fs) rs1555223294
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370
NM_000202.8(IDS):c.143G>C (p.Arg48Pro) rs1569560528
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000206.2(IL2RG):c.181C>T (p.Gln61Ter) rs1569480082
NM_000206.2(IL2RG):c.270-1G>T rs193922346
NM_000206.2(IL2RG):c.314A>G (p.Tyr105Cys) rs193922347
NM_000206.2(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000206.2(IL2RG):c.465G>A (p.Trp155Ter) rs1569479994
NM_000206.2(IL2RG):c.662T>C (p.Phe221Ser) rs193922349
NM_000206.2(IL2RG):c.710G>A (p.Trp237Ter) rs193922350
NM_000206.2(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
NM_000207.3(INS):c.71C>T (p.Ala24Val) rs80356663
NM_000209.4(PDX1):c.442C>G (p.Arg148Gly) rs193922355
NM_000209.4(PDX1):c.571A>C (p.Lys191Gln) rs193922356
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly) rs193922360
NM_000215.3(JAK3):c.1744C>T (p.Arg582Trp) rs193922361
NM_000215.3(JAK3):c.1767C>T (p.Gly589=) rs193922362
NM_000215.3(JAK3):c.2683_2704del (p.Arg895fs) rs1555743321
NM_000215.3(JAK3):c.678_679del (p.Cys227fs) rs193922364
NM_000218.2(KCNQ1):c.1515-2_1515-1delAG rs1564886323
NM_000228.3(LAMB3):c.463dup (p.Ser155fs) rs776537364
NM_000233.4(LHCGR):c.1732G>T (p.Asp578Tyr) rs121912532
NM_000238.3(KCNH2):c.1280A>C (p.Tyr427Ser) rs199472897
NM_000238.3(KCNH2):c.1888G>A (p.Val630Ile) rs199472958
NM_000238.3(KCNH2):c.2766del (p.Pro923fs) rs1554424403
NM_000238.3(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803
NM_000238.3(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_000243.2(MEFV):c.1894G>A (p.Gly632Ser) rs104895128
NM_000244.3(MEN1):c.1028dup (p.Gln344fs) rs386134245
NM_000244.3(MEN1):c.1078del (p.Arg360fs) rs386134246
NM_000244.3(MEN1):c.1189dup (p.Glu397fs) rs386134247
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.252dup (p.Ile85fs) rs386134253
NM_000244.3(MEN1):c.417C>G (p.His139Gln) rs386134254
NM_000244.3(MEN1):c.480_481insAATT (p.Gly161fs) rs386134255
NM_000244.3(MEN1):c.664_669+2delGAGCGGGT rs386134258
NM_000244.3(MEN1):c.773C>A (p.Ser258Ter) rs386134259
NM_000244.3(MEN1):c.970dup (p.Tyr324fs) rs386134261
NM_000248.3(MITF):c.952G>A (p.Glu318Lys) rs149617956
NM_000249.3(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.3(MLH1):c.1032del (p.Phe344fs) rs1553648225
NM_000249.3(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.3(MLH1):c.1409+1G>A rs267607825
NM_000249.3(MLH1):c.1409+1G>T rs267607825
NM_000249.3(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1558+1G>A rs267607832
NM_000249.3(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.3(MLH1):c.1597del (p.Cys533fs) rs1559575107
NM_000249.3(MLH1):c.1731+1G>T rs267607853
NM_000249.3(MLH1):c.174_175delinsT (p.Leu58fs) rs876660860
NM_000249.3(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.1989+1G>T rs267607879
NM_000249.3(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.347del (p.Thr116fs) rs876661159
NM_000249.3(MLH1):c.454-1G>C rs193922370
NM_000249.3(MLH1):c.469dup (p.Tyr157fs) rs63751101
NM_000249.3(MLH1):c.860del (p.Asn287fs) rs63750034
NM_000249.3(MLH1):c.927dup (p.Thr310fs) rs1553647995
NM_000249.3(MLH1):c.960_964dup (p.Ile322fs) rs1553648047
NM_000249.3(MLH1):c.971dup (p.Arg325fs) rs587781554
NM_000249.3(MLH1):c.980_983dup (p.His329fs) rs1559544297
NM_000251.2(MSH2):c.1077-66_1146del rs193922372
NM_000251.2(MSH2):c.10C>T (p.Gln4Ter)
NM_000251.2(MSH2):c.1224T>G (p.Tyr408Ter) rs63750132
NM_000251.2(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.2(MSH2):c.1401del (p.Glu467fs) rs1553365711
NM_000251.2(MSH2):c.1510+1G>A rs1114167852
NM_000251.2(MSH2):c.1511-1G>A rs267607964
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1827del (p.His610fs) rs587779112
NM_000251.2(MSH2):c.1838dup (p.Asn613fs) rs1114167815
NM_000251.2(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.2(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.2(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.2(MSH2):c.2466T>A (p.Cys822Ter) rs63749846
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.340G>T (p.Glu114Ter) rs878853815
NM_000251.2(MSH2):c.75del (p.Met26fs) rs1553348760
NM_000251.2(MSH2):c.845_848del (p.Asp282fs) rs1553352462
NM_000251.2(MSH2):c.860dup (p.Gln288fs) rs193922375
NM_000253.3(MTTP):c.2212del (p.Ser738fs) rs755681036
NM_000253.3(MTTP):c.307A>T (p.Lys103Ter) rs1560614646
NM_000255.4(MMUT):c.753+1G>A rs1028877309
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr) rs397516041
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln) rs727504273
NM_000271.4(NPC1):c.3243_3755-94del
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000277.3(PAH):c.1099del (p.Leu367fs) rs62506951
NM_000277.3(PAH):c.226G>T (p.Glu76Ter) rs762949770
NM_000277.3(PAH):c.283A>T (p.Ile95Phe) rs62508682
NM_000277.3(PAH):c.400C>T (p.Gln134Ter) rs199475680
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.510-2A>G rs1555204750
NM_000277.3(PAH):c.556del (p.Thr186fs) rs62507328
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup) rs1555935486
NM_000286.3(PEX12):c.268_271del (p.Lys90fs) rs61752100
NM_000286.3(PEX12):c.445_454del (p.Ser149fs) rs1567730901
NM_000286.3(PEX12):c.681-2A>C rs187526749
NM_000287.4(PEX6):c.1233+1G>A rs763459576
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240
NM_000287.4(PEX6):c.2364_2365del (p.Phe789Cysfs) rs755716911
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860
NM_000303.3(PMM2):c.255+1G>A rs1060499598
NM_000303.3(PMM2):c.392del (p.Pro131fs) rs1555449607
NM_000303.3(PMM2):c.66+1G>T rs937726878
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000321.2(RB1):c.1390-2A>G rs1555286568
NM_000321.2(RB1):c.1400_1403dup (p.Ser469fs) rs1555286570
NM_000321.2(RB1):c.1411C>T (p.Gln471Ter) rs1354030520
NM_000321.2(RB1):c.1419del (p.Phe473fs) rs1555286573
NM_000321.2(RB1):c.1421+12_1421+32delACTTTTAGTAAAAAATTTTTT rs587781256
NM_000321.2(RB1):c.1421G>T (p.Ser474Ile) rs1555286575
NM_000335.4(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_000335.4(SCN5A):c.2946T>A (p.Cys982Ter) rs1553699766
NM_000335.4(SCN5A):c.3509-1G>C rs1553698563
NM_000335.4(SCN5A):c.3681C>G (p.Tyr1227Ter) rs1559738598
NM_000335.4(SCN5A):c.3943C>T (p.Arg1315Ter) rs1553695764
NM_000335.4(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224
NM_000335.4(SCN5A):c.689T>C (p.Ile230Thr) rs199473073
NM_000344.3(SMN1):c.835-2A>G rs141760116
NM_000344.3(SMN1):c.835-2A>T rs141760116
NM_000344.3(SMN1):c.855dup (p.Glu286fs) rs1554082383
NM_000349.3(STAR):c.135del (p.Ser46fs) rs193922393
NM_000352.5(ABCC8):c.1606T>C (p.Phe536Leu) rs193922396
NM_000352.5(ABCC8):c.1616A>G (p.Tyr539Cys) rs193922397
NM_000352.5(ABCC8):c.2222+1G>T rs1554923999
NM_000352.5(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.5(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678
NM_000352.5(ABCC8):c.3517G>A (p.Val1173Met) rs141322087
NM_000352.5(ABCC8):c.3542T>G (p.Phe1181Cys) rs193922399
NM_000352.5(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.5(ABCC8):c.4136G>T (p.Arg1379Leu) rs193922401
NM_000352.5(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676
NM_000352.5(ABCC8):c.4368C>G (p.Ile1456Met) rs193922403
NM_000352.5(ABCC8):c.4451G>A (p.Gly1484Glu) rs193922405
NM_000352.5(ABCC8):c.4553T>G (p.Ile1518Ser) rs193922406
NM_000352.5(ABCC8):c.4564G>A (p.Val1522Met) rs193922407
NM_000352.5(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000364.4(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_000368.4(TSC1):c.2208+2T>A rs1064794132
NM_000370.3(TTPA):c.339del (p.Val114fs) rs1563363293
NM_000371.3(TTR):c.208A>C (p.Ser70Arg) rs386134269
NM_000371.3(TTR):c.88T>C (p.Cys30Arg) rs121918083
NM_000377.2(WAS):c.257G>C (p.Arg86Pro) rs132630268
NM_000377.2(WAS):c.290G>A (p.Trp97Ter) rs1557006474
NM_000377.2(WAS):c.310C>T (p.Gln104Ter) rs193922414
NM_000377.2(WAS):c.553C>T (p.Gln185Ter) rs1557006672
NM_000377.2(WAS):c.763dup (p.Gln255fs) rs193922416
NM_000377.2(WAS):c.852del (p.Glu285fs) rs1557007035
NM_000380.3(XPA):c.666dup (p.Val223fs) rs1554701103
NM_000383.4(AIRE):c.1490del (p.Pro497fs) rs750764323
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) rs193922417
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418
NM_000388.4(CASR):c.1058A>C (p.Glu353Ala) rs193922419
NM_000388.4(CASR):c.1244G>A (p.Arg415Gln) rs193922421
NM_000388.4(CASR):c.1512_1515del (p.Phe505fs) rs193922422
NM_000388.4(CASR):c.166del (p.Glu56fs) rs193922424
NM_000388.4(CASR):c.1676C>A (p.Pro559His) rs193922425
NM_000388.4(CASR):c.1685G>C (p.Cys562Ser) rs193922426
NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser) rs193922427
NM_000388.4(CASR):c.1884del (p.Phe629fs) rs193922429
NM_000388.4(CASR):c.1934C>A (p.Ala645Asp) rs193922430
NM_000388.4(CASR):c.2014C>A (p.Pro672Thr) rs193922431
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432
NM_000388.4(CASR):c.2243C>A (p.Pro748Gln) rs193922433
NM_000388.4(CASR):c.2435T>C (p.Leu812Pro) rs193922435
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp) rs193922436
NM_000388.4(CASR):c.2644A>T (p.Lys882Ter) rs193922437
NM_000388.4(CASR):c.269A>C (p.Asn90Thr) rs193922439
NM_000388.4(CASR):c.380A>G (p.Glu127Gly) rs121909260
NM_000388.4(CASR):c.554del (p.Arg185fs) rs193922442
NM_000388.4(CASR):c.643G>C (p.Asp215His) rs1553731681
NM_000388.4(CASR):c.974G>A (p.Gly325Glu) rs193922444
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.381-2A>G rs1554902052
NM_000397.3(CYBB):c.1085C>T (p.Thr362Ile) rs1569479953
NM_000397.3(CYBB):c.1140dup (p.Lys381fs) rs193922445
NM_000397.3(CYBB):c.15del (p.Ala5_Val6insTer) rs193922446
NM_000397.3(CYBB):c.607G>T (p.Glu203Ter) rs193922449
NM_000410.3(HFE):c.77-2_78delinsTGGAGTC rs1561939338
NM_000411.8(HLCS):c.1993C>T (p.Arg665Ter) rs146448211
NM_000414.4(HSD17B4):c.788del (p.Pro263fs) rs1561457987
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000416.2(IFNGR1):c.201-1G>T rs193922451
NM_000444.6(PHEX):c.1404+2T>G rs193922454
NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter) rs193922455
NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro) rs193922456
NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter) rs193922457
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter) rs193922458
NM_000444.6(PHEX):c.349+1G>C rs193922459
NM_000444.6(PHEX):c.884_885dup (p.Met296fs) rs193922460
NM_000448.2(RAG1):c.1566G>T (p.Trp522Cys) rs193922461
NM_000448.2(RAG1):c.2603C>T (p.Ala868Val) rs193922462
NM_000448.2(RAG1):c.2904C>A (p.Asn968Lys) rs193922463
NM_000448.2(RAG1):c.322C>T (p.Arg108Ter) rs193922464
NM_000451.3(SHOX):c.347A>G (p.Lys116Arg) rs193922466
NM_000455.4(STK11):c.725G>A (p.Gly242Glu) rs1568708382
NM_000455.4(STK11):c.851del (p.Asp284fs) rs1555738723
NM_000457.4(HNF4A):c.1163C>G (p.Pro388Arg) rs193922469
NM_000457.4(HNF4A):c.1253G>C (p.Cys418Ser) rs193922470
NM_000457.4(HNF4A):c.347_348delinsC (p.Arg116fs) rs193922471
NM_000457.4(HNF4A):c.619G>C (p.Ala207Pro) rs193922474
NM_000457.4(HNF4A):c.641_648+10del18 rs193922475
NM_000457.4(HNF4A):c.726_728delinsTCAA (p.Leu243fs) rs193922476
NM_000457.4(HNF4A):c.834G>C (p.Glu278Asp) rs193922477
NM_000457.4(HNF4A):c.991C>T (p.Arg331Cys) rs193922479
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr) rs138986885
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr) rs193922482
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter) rs193922486
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn) rs193922487
NM_000458.4(HNF1B):c.345-1G>T rs193922488
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer) rs193922489
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg) rs193922490
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp) rs193922491
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser) rs193922492
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser) rs193922493
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter) rs796666047
NM_000465.4(BARD1):c.159-1G>A
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000466.3(PEX1):c.1900+2T>C rs1562857198
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro) rs386134262
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000478.6(ALPL):c.1171del (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1182dup (p.Ile395fs) rs754826836
NM_000478.6(ALPL):c.1474del (p.Ala492fs) rs1558558976
NM_000478.6(ALPL):c.815G>A (p.Arg272His) rs781272386
NM_000486.5(AQP2):c.223T>G (p.Cys75Gly) rs193922494
NM_000486.5(AQP2):c.560G>A (p.Arg187His) rs193922495
NM_000486.5(AQP2):c.785del (p.Pro262fs) rs193922496
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.244del (p.Arg82fs) rs1569081823
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.3(CFTR):c.114C>G (p.Tyr38Ter) rs193922498
NM_000492.3(CFTR):c.1210-2_1210-1delAG rs1562894926
NM_000492.3(CFTR):c.1219G>T (p.Glu407Ter) rs766063304
NM_000492.3(CFTR):c.1328_1329AT[1] (p.Asp443_Ile444insTer) rs397508190
NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.3(CFTR):c.166G>A (p.Glu56Lys) rs397508256
NM_000492.3(CFTR):c.1673T>C (p.Leu558Ser) rs193922504
NM_000492.3(CFTR):c.1680-877G>T rs397508261
NM_000492.3(CFTR):c.1692del (p.Asp565fs) rs193922505
NM_000492.3(CFTR):c.1703T>A (p.Leu568Ter) rs397508273
NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.3(CFTR):c.1979C>G (p.Ser660Ter) rs1562907896
NM_000492.3(CFTR):c.2573del (p.Ser858fs) rs1562908997
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.3(CFTR):c.273+3A>C rs74467662
NM_000492.3(CFTR):c.273G>C (p.Gly91=) rs773739166
NM_000492.3(CFTR):c.2768C>A (p.Ala923Asp) rs193922509
NM_000492.3(CFTR):c.2810dup (p.Val938fs) rs193922510
NM_000492.3(CFTR):c.2909G>A (p.Gly970Asp) rs386134230
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.3(CFTR):c.2932A>T (p.Lys978Ter) rs193922514
NM_000492.3(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.3(CFTR):c.2939T>A (p.Ile980Lys) rs397508463
NM_000492.3(CFTR):c.2988+1G>T rs75096551
NM_000492.3(CFTR):c.2989-2A>T rs193922515
NM_000492.3(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.3(CFTR):c.3038C>A (p.Pro1013His) rs193922516
NM_000492.3(CFTR):c.3139+1delG rs780546355
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.3281_3367+268del355insTGTTAA rs1554392248
NM_000492.3(CFTR):c.3475T>C (p.Ser1159Pro) rs397508572
NM_000492.3(CFTR):c.3546C>G (p.Tyr1182Ter) rs397508581
NM_000492.3(CFTR):c.3691del (p.Ser1231fs) rs77035409
NM_000492.3(CFTR):c.370G>C (p.Gly124Arg) rs193922519
NM_000492.3(CFTR):c.3717+5G>A rs193922520
NM_000492.3(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600
NM_000492.3(CFTR):c.380_382dup (p.Leu127dup) rs193922521
NM_000492.3(CFTR):c.3874-2A>G rs1554396384
NM_000492.3(CFTR):c.3957_3958insAGGG (p.Asp1320fs) rs193922523
NM_000492.3(CFTR):c.3997G>T (p.Gly1333Trp) rs193922524
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4242+2T>C rs193922526
NM_000492.3(CFTR):c.4272C>G (p.Tyr1424Ter) rs1800135
NM_000492.3(CFTR):c.4280T>C (p.Ile1427Thr) rs193922528
NM_000492.3(CFTR):c.4307_4320del (p.Leu1436fs) rs1562929573
NM_000492.3(CFTR):c.4417G>T (p.Glu1473Ter) rs397508716
NM_000492.3(CFTR):c.488del (p.Lys163fs) rs1554379899
NM_000492.3(CFTR):c.489+2T>C rs397508732
NM_000492.3(CFTR):c.531dup (p.Gly178fs) rs121908771
NM_000492.3(CFTR):c.592G>A (p.Ala198Thr) rs193922529
NM_000492.3(CFTR):c.619C>T (p.Gln207Ter) rs397508771
NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.3(CFTR):c.794T>G (p.Met265Arg) rs148519623
NM_000492.3(CFTR):c.811del (p.Ser271fs) rs1554380789
NM_000492.3(CFTR):c.869+5G>A rs533959068
NM_000492.3(CFTR):c.870-2A>G rs1290078234
NM_000492.3(CFTR):c.997C>T (p.Leu333Phe) rs193922533
NM_000497.3(CYP11B1):c.1120C>T (p.Arg374Trp) rs61752786
NM_000497.3(CYP11B1):c.125C>T (p.Pro42Leu) rs193922538
NM_000497.3(CYP11B1):c.264G>A (p.Met88Ile) rs193922539
NM_000497.3(CYP11B1):c.413G>A (p.Arg138His) rs193922540
NM_000497.3(CYP11B1):c.799+2T>C rs193922541
NM_000512.5(GALNS):c.899-2A>G rs1165218506
NM_000518.4(HBB):c.-77_-76delAA rs63750953
NM_000518.4(HBB):c.374C>G (p.Pro125Arg) rs33983276
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.-136C>T rs33994806
NM_000518.5(HBB):c.-137C>A rs33941377
NM_000518.5(HBB):c.176del (p.Pro59fs) rs35395625
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) rs193922552
NM_000518.5(HBB):c.201del (p.Val68fs) rs193922553
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.226del (p.Leu76fs) rs34218908
NM_000518.5(HBB):c.2T>A (p.Met1Lys) rs33941849
NM_000518.5(HBB):c.315+2del rs1564874813
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) rs777042785
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter) rs759092928
NM_000520.6(HEXA):c.436del (p.Val146fs) rs1057517174
NM_000525.3(KCNJ11):c.149G>A (p.Arg50Gln) rs80356611
NM_000525.3(KCNJ11):c.5T>C (p.Leu2Pro) rs193922565
NM_000527.4(LDLR):c.1012T>G (p.Cys338Gly) rs879254753
NM_000527.4(LDLR):c.1056_1060+3delCGAAGGTG rs879254770
NM_000527.4(LDLR):c.1061A>T (p.Asp354Val) rs755449669
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.1186+2T>G rs779921498
NM_000527.4(LDLR):c.1291G>C (p.Ala431Pro) rs28942079
NM_000527.4(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.4(LDLR):c.1474G>C (p.Asp492His) rs373646964
NM_000527.4(LDLR):c.1502C>T (p.Ala501Val) rs755667663
NM_000527.4(LDLR):c.1586+5G>C rs781362878
NM_000527.4(LDLR):c.1867dup (p.Ile623fs) rs1555807206
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.4(LDLR):c.1978C>T (p.Gln660Ter) rs193922569
NM_000527.4(LDLR):c.230del (p.Gly77fs) rs879254440
NM_000527.4(LDLR):c.2T>C (p.Met1Thr) rs1555800701
NM_000527.4(LDLR):c.362G>A (p.Cys121Tyr) rs193922571
NM_000527.4(LDLR):c.622G>T (p.Glu208Ter) rs879254597
NM_000527.4(LDLR):c.669_680dup (p.Asp227_Glu228insGluAspLysSer) rs879254626
NM_000527.4(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000531.6(OTC):c.418G>C (p.Ala140Pro) rs72556260
NM_000531.6(OTC):c.943G>T (p.Val315Phe) rs72558470
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1336_1402del (p.Ser445_Pro446insTer) rs1562633331
NM_000535.7(PMS2):c.1351del (p.Arg451fs) rs1562634268
NM_000535.7(PMS2):c.1632_1633CT[1] (p.Ser545fs) rs753256070
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter) rs1554297125
NM_000535.7(PMS2):c.1970del (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000535.7(PMS2):c.2533del (p.His845fs) rs1064796500
NM_000535.7(PMS2):c.733_741delinsGCTGTGCTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer) rs1554301495
NM_000535.7(PMS2):c.733_741delinsGCTGTGTTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer) rs1554301495
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer) rs876658964
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) rs193922574
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs) rs1057516403
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala) rs761308217
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp) rs193922598
NM_000545.6(HNF1A):c.1129del (p.Leu377fs) rs193922576
NM_000545.6(HNF1A):c.1265T>C (p.Leu422Pro) rs193922577
NM_000545.6(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.6(HNF1A):c.1504_1505CT[3] (p.Tyr503fs) rs193922582
NM_000545.6(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587
NM_000545.6(HNF1A):c.169del (p.Leu57fs) rs193922588
NM_000545.6(HNF1A):c.1745A>G (p.His582Arg) rs193922589
NM_000545.6(HNF1A):c.1A>G (p.Met1Val) rs193922592
NM_000545.6(HNF1A):c.281C>T (p.Pro94Leu) rs193922593
NM_000545.6(HNF1A):c.313dup (p.Glu105fs) rs193922594
NM_000545.6(HNF1A):c.369_371GCA[4] (p.Gln125dup) rs193922596
NM_000545.6(HNF1A):c.441C>A (p.His147Gln) rs193922597
NM_000545.6(HNF1A):c.467C>T (p.Thr156Met) rs150513055
NM_000545.6(HNF1A):c.518_526+37del rs386134267
NM_000545.6(HNF1A):c.663_665GAA[1] (p.Lys222del) rs193922599
NM_000545.6(HNF1A):c.670C>T (p.Pro224Ser) rs193922600
NM_000545.6(HNF1A):c.731G>T (p.Arg244Ile) rs193922602
NM_000545.6(HNF1A):c.734G>T (p.Gly245Val) rs193922603
NM_000545.6(HNF1A):c.790G>T (p.Val264Phe) rs193922604
NM_000545.6(HNF1A):c.803T>C (p.Phe268Ser) rs193922605
NM_000545.6(HNF1A):c.827C>G (p.Ala276Gly) rs137853245
NM_000545.6(HNF1A):c.872C>G (p.Pro291Arg) rs193922606
NM_000546.5(TP53):c.375+2T>C rs1555526469
NM_000546.5(TP53):c.557_559+2delinsGGGG rs1567552467
NM_000546.5(TP53):c.559+2del rs1567552459
NM_000546.5(TP53):c.782+1G>T rs1555525429
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.5(TP53):c.869G>T (p.Arg290Leu) rs55819519
NM_000551.3(VHL):c.189dup (p.Arg64fs) rs1553619402
NM_000551.3(VHL):c.192del (p.Ser65fs) rs730882031
NM_000551.3(VHL):c.242C>T (p.Pro81Leu) rs193922608
NM_000551.3(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.336C>G (p.Tyr112Ter) rs751232153
NM_000551.3(VHL):c.340+1G>C rs730882032
NM_000551.3(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_000551.3(VHL):c.392A>G (p.Asn131Ser) rs1553619963
NM_000551.3(VHL):c.458T>A (p.Leu153Gln) rs193922611
NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.3(VHL):c.642A>G (p.Ter214Trp) rs1559430011
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000709.4(BCKDHA):c.1168-2A>G rs1555767285
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs) rs794727847
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile) rs193922615
NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser) rs193922616
NM_001031681.2(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_001031681.2(CTNS):c.423del (p.Phe142fs) rs1567709909
NM_001035.3(RYR2):c.14314G>A (p.Gly4772Ser) rs193922622
NM_001035.3(RYR2):c.4040T>G (p.Met1347Arg) rs193922625
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788
NM_001128425.1(MUTYH):c.1163T>C (p.Leu388Pro) rs1060501335
NM_001128425.1(MUTYH):c.1435G>T (p.Glu479Ter) rs376790729
NM_001128425.1(MUTYH):c.1477G>T (p.Val493Phe) rs587782228
NM_001128425.1(MUTYH):c.200del (p.Gly67fs) rs746449748
NM_001128425.1(MUTYH):c.325C>T (p.Arg109Trp) rs765123255
NM_001128425.1(MUTYH):c.338G>A (p.Trp113Ter) rs888691362
NM_001128425.1(MUTYH):c.391T>A (p.Trp131Arg) rs730881832
NM_001128425.1(MUTYH):c.393G>A (p.Trp131Ter) rs587781295
NM_001128425.1(MUTYH):c.508del (p.Glu169_Val170insTer) rs1553129062
NM_001128425.1(MUTYH):c.857G>A (p.Gly286Glu) rs730881833
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile) rs193922637
NM_001164277.1(SLC37A4):c.1124+2dup rs1459811938
NM_001164277.1(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001164277.1(SLC37A4):c.381+2T>G rs782645078
NM_001271208.2(NEB):c.1849del (p.Asp617fs) rs755531536
NM_001271208.2(NEB):c.20554G>T (p.Glu6852Ter) rs777819332
NM_001271208.2(NEB):c.21898C>T (p.Arg7300Ter) rs750900690
NM_001271208.2(NEB):c.22275C>G (p.Tyr7425Ter)
NM_001271208.2(NEB):c.22594C>T (p.Arg7532Ter) rs760935667
NM_001271208.2(NEB):c.24218C>A (p.Ser8073Ter) rs1458048713
NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs) rs781667543
NM_001271208.2(NEB):c.24444_24447del (p.Pro8149fs) rs934111355
NM_001271208.2(NEB):c.24458_24461dup (p.Met8154fs) rs1257495033
NM_001271208.2(NEB):c.3252_3255+3del rs1559168230
NM_001271208.2(NEB):c.3987+1G>A rs780022652
NM_001271208.2(NEB):c.734del (p.Gly245fs) rs1559573882
NM_001360.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001360.2(DHCR7):c.651C>A (p.Tyr217Ter) rs749076525
NM_001360.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001807.5(CEL):c.1776del (p.Val593fs) rs193922638
NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu) rs868417981
NM_001844.5(COL2A1):c.1680+2T>G rs1565681966
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs) rs1375304341
NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer) rs778346264
NM_002185.5(IL7R):c.214G>C (p.Glu72Gln) rs148001159
NM_002185.5(IL7R):c.271_280dup (p.Ile94fs) rs193922640
NM_002185.5(IL7R):c.539A>C (p.His180Pro) rs193922642
NM_002185.5(IL7R):c.616_617delinsTA (p.Arg206Ter) rs193922643
NM_002185.5(IL7R):c.644G>T (p.Gly215Val) rs193922645
NM_002185.5(IL7R):c.882A>C (p.Leu294Phe) rs193922647
NM_002294.2(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_002303.5(LEPR):c.2880C>G (p.Asn960Lys) rs193922650
NM_002474.3(MYH11):c.4825C>T (p.Arg1609Ter) rs1055960218
NM_002485.4(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.4(NBN):c.1520_1523ATCT[1] (p.Ser509fs) rs1554558449
NM_002485.4(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.4(NBN):c.175C>T (p.Gln59Ter) rs1554568427
NM_002485.4(NBN):c.2071-1G>A rs786201965
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002485.4(NBN):c.481-2A>T rs751567476
NM_002485.4(NBN):c.897-2A>T rs864622090
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile) rs193922655
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg) rs193922656
NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.4(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.4(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.4(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.4(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.4(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.4(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002878.3(RAD51D):c.620C>T (p.Ser207Leu) rs370228071
NM_002880.3(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_002880.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_002880.3(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_002880.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_002972.4(SBF1):c.2154_2155del (p.Asp719fs) rs1569512576
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003060.4(SLC22A5):c.-91_22del (p.Met1fs) rs1554085861
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054
NM_003122.4(SPINK1):c.55+1G>T rs1561606446
NM_003172.4(SURF1):c.106+1G>C rs863224926
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) rs1554768333
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg) rs193922664
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) rs193922665
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln) rs193922667
NM_003639.4(IKBKG):c.262_264GAG[1] (p.Glu89del) rs386134238
NM_003639.4(IKBKG):c.470A>C (p.Gln157Pro) rs386134240
NM_003639.4(IKBKG):c.931G>A (p.Asp311Asn) rs179363867
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs) rs781333644
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) rs111033335
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.298del (p.His100fs) rs775828835
NM_004004.6(GJB2):c.299A>T (p.His100Leu) rs1422767764
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004329.2(BMPR1A):c.1221C>G (p.Tyr407Ter) rs1131691181
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004360.5(CDH1):c.1891_1892AC[2] (p.His632fs) rs1060501224
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter) rs587780787
NM_004360.5(CDH1):c.2430del (p.Phe810fs) rs786203752
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_004376.6(COX15):c.452C>G (p.Ser151Ter) rs149718203
NM_004415.4(DSP):c.1381_1383ATT[1] (p.Ile462del) rs193922668
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter) rs1561690319
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.5940dup (p.Tyr1981fs) rs1561701721
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671
NM_004572.3(PKP2):c.1034+1G>A rs869025496
NM_004572.3(PKP2):c.1138G>T (p.Glu380Ter) rs878898365
NM_004572.3(PKP2):c.1840del (p.Leu614fs) rs1555142994
NM_004572.3(PKP2):c.2028G>A (p.Trp676Ter) rs193922673
NM_004572.3(PKP2):c.2310_2311TC[1] (p.Leu771fs) rs1064794350
NM_004572.3(PKP2):c.2443_2448delinsGAAA (p.Asn815fs) rs786204395
NM_004646.3(NPHS1):c.1020del (p.Ser341fs) rs1555763372
NM_004646.3(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.3(NPHS1):c.2541del (p.Lys848fs) rs1555761997
NM_004646.3(NPHS1):c.2663+2T>G rs762392183
NM_004646.3(NPHS1):c.313G>A (p.Asp105Asn) rs386833932
NM_004646.3(NPHS1):c.619del (p.Arg207fs) rs778217926
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004992.3(MECP2):c.574A>T (p.Lys192Ter) rs193922679
NM_004992.3(MECP2):c.650C>T (p.Pro217Leu) rs878853312
NM_004992.3(MECP2):c.728_731del (p.Thr243fs) rs1569548428
NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu) rs193922681
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005343.4(HRAS):c.183G>T (p.Gln61His) rs121913496
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005359.5(SMAD4):c.1271dup (p.Asp424Glufs) rs1555686616
NM_005373.2(MPL):c.1653+1delG rs755257605
NM_005562.3(LAMC2):c.1066+1G>T rs1558092158
NM_005572.3(LMNA):c.639+1G>A rs869125101
NM_005619.5(RTN2):c.818_828del (p.Thr273Metfs) rs1568624823
NM_005633.3(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005691.3(ABCC9):c.1858C>T (p.Arg620Ter) rs1024095026
NM_005691.3(ABCC9):c.2554C>T (p.Gln852Ter) rs193922683
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) rs1554098250
NM_005862.3(STAG1):c.2557dup (p.Glu853fs) rs1560062082
NM_005912.3(MC4R):c.538T>C (p.Ser180Pro) rs193922685
NM_006261.4(PROP1):c.359G>A (p.Arg120His) rs769171020
NM_006261.4(PROP1):c.46C>T (p.Arg16Ter) rs140016178
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980
NM_006493.4(CLN5):c.775_776AT[1] (p.Phe260fs) rs786204644
NM_006731.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_006731.2(FKTN):c.648-1243G>T rs1554754182
NM_006731.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814
NM_006920.6(SCN1A):c.1273del (p.Ala425fs) rs1553546836
NM_006920.6(SCN1A):c.4434del (p.Lys1480fs) rs1559118914
NM_006920.6(SCN1A):c.5185G>A (p.Asp1729Asn) rs796053035
NM_007103.4(NDUFV1):c.155+1G>A rs1565224383
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu) rs750831299
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781
NM_007194.4(CHEK2):c.1259+1G>A rs121908707
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs) rs1569112324
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1434del (p.Glu479fs) rs786202601
NM_007194.4(CHEK2):c.319+2T>A rs587782401
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.908+1G>C rs587781699
NM_007294.3(BRCA1):c.1091_1092del (p.Pro364fs) rs1555592526
NM_007294.3(BRCA1):c.1292del (p.Leu431fs) rs80357528
NM_007294.3(BRCA1):c.134+1G>C rs80358043
NM_007294.3(BRCA1):c.139T>G (p.Cys47Gly) rs80357370
NM_007294.3(BRCA1):c.1407_1408del (p.Ser470fs) rs879255476
NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.3(BRCA1):c.1825_1829del (p.Asn609fs) rs1555591170
NM_007294.3(BRCA1):c.1969C>T (p.Gln657Ter) rs397508926
NM_007294.3(BRCA1):c.2295del (p.Ser766fs) rs1567796243
NM_007294.3(BRCA1):c.2346dup (p.Ile783fs) rs886040027
NM_007294.3(BRCA1):c.2429dup (p.Asn810fs) rs397508967
NM_007294.3(BRCA1):c.2620_2621del (p.Asn874fs) rs587781423
NM_007294.3(BRCA1):c.2693_2694dup (p.Val899fs) rs80357549
NM_007294.3(BRCA1):c.2728del (p.Gln910fs) rs397509005
NM_007294.3(BRCA1):c.2861dup (p.Ser955fs) rs886040079
NM_007294.3(BRCA1):c.2959A>T (p.Lys987Ter) rs878854941
NM_007294.3(BRCA1):c.3289dup (p.Ser1097fs) rs80357686
NM_007294.3(BRCA1):c.3475dup (p.Ile1159fs) rs1555587638
NM_007294.3(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer) rs797044631
NM_007294.3(BRCA1):c.379del (p.Ser127fs) rs1555596373
NM_007294.3(BRCA1):c.3964A>T (p.Lys1322Ter) rs80357343
NM_007294.3(BRCA1):c.4211del (p.Leu1404fs) rs1555584251
NM_007294.3(BRCA1):c.4386dup (p.Tyr1463fs) rs786204267
NM_007294.3(BRCA1):c.4396dup (p.Ser1466fs) rs397509170
NM_007294.3(BRCA1):c.442C>T (p.Gln148Ter) rs876659614
NM_007294.3(BRCA1):c.4534del (p.Ser1512fs) rs1567778176
NM_007294.3(BRCA1):c.4623_4632del (p.Glu1541fs) rs1567777811
NM_007294.3(BRCA1):c.4834_4835del (p.Gln1612fs) rs1555580840
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4986+5G>A rs397509211
NM_007294.3(BRCA1):c.4997dup (p.Tyr1666Ter) rs876658947
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.3(BRCA1):c.5277+1delG rs273901754
NM_007294.3(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.3(BRCA1):c.5467+2T>C rs80358009
NM_007294.3(BRCA1):c.547+1G>A rs80358030
NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.3(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.3(BRCA1):c.5511G>T (p.Trp1837Cys) rs80356914
NM_007294.3(BRCA1):c.5527G>C (p.Ala1843Pro) rs80357019
NM_007294.3(BRCA1):c.5569del (p.Gln1857fs) rs886039675
NM_007294.3(BRCA1):c.614T>G (p.Leu205Ter) rs1555593598
NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.3(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.3(BRCA1):c.933del (p.Gly312fs) rs1135401839
NM_007294.3(BRCA1):c.942_956delinsCTTACTTC (p.Arg315fs) rs1555592766
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993
NM_014080.4(DUOX2):c.345_352del (p.Asp115fs) rs1566978577
NM_014268.4(MAPRE2):c.169_176del (p.Thr57fs) rs1568991852
NM_014297.5(ETHE1):c.505+1G>A rs935855792
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter) rs751568153
NM_015120.4(ALMS1):c.3575del (p.Phe1192fs) rs1558648759
NM_015243.2(VPS13B):c.436C>T (p.Arg146Ter) rs144539572
NM_015338.5(ASXL1):c.3637del (p.Leu1213fs) rs1569337176
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His) rs267606976
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu) rs193922697
NM_016434.3(RTEL1):c.1476G>T (p.Met492Ile) rs370343781
NM_016434.3(RTEL1):c.1482-1G>A rs863225129
NM_016434.3(RTEL1):c.2413+1G>C rs776744306
NM_016434.3(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018
NM_017890.4(VPS13B):c.10156dup (p.Thr3386fs) rs386834055
NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter) rs386834057
NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) rs386834061
NM_017890.4(VPS13B):c.11906_11915del (p.Pro3969fs) rs386834069
NM_017890.4(VPS13B):c.11906_11916delinsG (p.Pro3969fs) rs786204456
NM_017890.4(VPS13B):c.4411C>T (p.Arg1471Ter) rs386834086
NM_017929.6(PEX26):c.185G>A (p.Trp62Ter) rs1556586479
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter) rs797044824
NM_020638.3(FGF23):c.162G>C (p.Gln54His) rs193922701
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter) rs193922703
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu) rs193922704
NM_020975.6(RET):c.1880-2A>G rs193922699
NM_024312.5(GNPTAB):c.2545_2549GAAAA[1] (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs) rs281864964
NM_024312.5(GNPTAB):c.99del (p.Ala34fs) rs1408113895
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708
NM_024529.4(CDC73):c.478_479CA[1] (p.His160fs)
NM_024649.5(BBS1):c.1126_1130CTTTG[1] (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024675.3(PALB2):c.1451T>A (p.Leu484Ter) rs786203714
NM_024675.3(PALB2):c.2012T>G (p.Leu671Ter) rs755263466
NM_024675.3(PALB2):c.212-2A>G rs730881879
NM_024675.3(PALB2):c.2218C>T (p.Gln740Ter) rs1555460445
NM_024675.3(PALB2):c.226_227AT[1] (p.Ile76fs) rs1555461870
NM_024675.3(PALB2):c.2288_2291del (p.His762_Leu763insTer) rs876659571
NM_024675.3(PALB2):c.2336C>G (p.Ser779Ter) rs764509489
NM_024675.3(PALB2):c.2409_2410CT[1] (p.Ser804fs) rs747148023
NM_024675.3(PALB2):c.2607del (p.Ser869_Val870insTer) rs767633741
NM_024675.3(PALB2):c.2759T>G (p.Leu920Ter) rs1567214493
NM_024675.3(PALB2):c.2974_2975dup (p.Met992fs) rs1555459520
NM_024675.3(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs) rs587782337
NM_024675.3(PALB2):c.3297_3298insT (p.Thr1100fs) rs1567206823
NM_024675.3(PALB2):c.761C>G (p.Ser254Ter) rs864622695
NM_024675.3(PALB2):c.801_802dup (p.Lys268fs) rs1555461618
NM_024675.3(PALB2):c.829_832del (p.His276_Asp277insTer) rs1555461602
NM_024675.3(PALB2):c.940C>T (p.Gln314Ter) rs786203821
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter) rs1565809409
NM_031885.4(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.4(BBS2):c.175C>T (p.Gln59Ter) rs121908176
NM_031885.4(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.4(BBS2):c.2107C>T (p.Arg703Ter) rs567573386
NM_031885.4(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923
NM_032043.2(BRIP1):c.1343G>A (p.Trp448Ter) rs775171520
NM_032043.2(BRIP1):c.1474-1G>A rs1555603638
NM_032043.2(BRIP1):c.193C>T (p.Gln65Ter) rs575595017
NM_032043.2(BRIP1):c.2076_2077GT[1] (p.Cys693fs)
NM_032043.2(BRIP1):c.2379+1G>T rs1555590286
NM_032043.2(BRIP1):c.241del (p.Glu81fs) rs1292988272
NM_032043.2(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410
NM_032043.2(BRIP1):c.440dup (p.Tyr147Ter) rs786203521
NM_032043.2(BRIP1):c.484C>T (p.Arg162Ter) rs747604569
NM_032682.5(FOXP1):c.1146+1G>C rs1559650552
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_033056.4(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_033118.3(MYLK2):c.595A>G (p.Ile199Val) rs193922712
NM_052845.3(MMAB):c.520_584del65 rs756195708
NM_054012.4(ASS1):c.460_467del (p.Phe154fs) rs1004492719
NM_058216.1(RAD51C):c.571+1delG rs1327086366
NM_058216.3(RAD51C):c.732del (p.Ile244fs) rs1060502601
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp) rs730881932
NM_133259.4(LRPPRC):c.3130C>T (p.Arg1044Ter) rs1558936154
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter) rs765652131
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter) rs148300854
NM_138694.4(PKHD1):c.10955del (p.Pro3652fs) rs765390756
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter) rs746471701
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter) rs779050294
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs) rs1554212326
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089
NM_138694.4(PKHD1):c.3158_3159del (p.Gly1053fs) rs1554204054
NM_138694.4(PKHD1):c.390+1G>T rs752327566
NM_138694.4(PKHD1):c.5065del (p.Met1689fs) rs1554198072
NM_138694.4(PKHD1):c.5464del (p.Thr1822fs) rs1562140771
NM_138694.4(PKHD1):c.5877_5878CA[1] (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.6294_6295TG[1] (p.Val2099fs) rs910497248
NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter) rs557437764
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) rs1057524563
NM_139076.3(ABRAXAS1):c.26_47del (p.Val9fs) rs1553938364
NM_139276.2(STAT3):c.1003C>T (p.Arg335Trp) rs193922716
NM_139276.2(STAT3):c.1243G>A (p.Glu415Lys) rs193922717
NM_139276.2(STAT3):c.1772A>T (p.Lys591Met) rs193922719
NM_139276.2(STAT3):c.1780G>A (p.Glu594Lys) rs193922720
NM_139276.2(STAT3):c.1970A>G (p.Tyr657Cys) rs193922721
NM_139276.2(STAT3):c.1979T>C (p.Met660Thr) rs886039434
NM_139276.2(STAT3):c.2134T>C (p.Cys712Arg) rs193922722
NM_144696.6(AXDND1):c.3032-1887G>A
NM_144997.7(FLCN):c.1432+2T>C rs1567807517
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1381-2A>G rs267607600
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906
NM_174936.3(PCSK9):c.323T>G (p.Leu108Arg) rs1057519691
NM_174936.3(PCSK9):c.85del (p.Arg29fs) rs1553135406
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.82_92GGCGCGGGGCT[3] (p.Phe35fs) rs398124601
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile) rs193922728
NR_003051.3(RMRP):n.-13_-6dup rs1563907946
NR_003051.3(RMRP):n.-14_-2dup13 rs1554651400
NR_003051.3(RMRP):n.-16_-4dup13 rs1554651422
NR_003051.3(RMRP):n.-21_-4dup18 rs1563907881
NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT rs751921616
NR_003051.3(RMRP):n.-22_-15dupTACTCTGT rs1563908212
NR_003051.3(RMRP):n.-24_-12dup rs781730798
NR_003051.3(RMRP):n.-24_-4dup21 rs1563907883
NR_003051.3(RMRP):n.212C>G rs192060920
NR_003051.3(RMRP):n.243A>G rs551450545
p.X214Trp
p.X466Trp

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