ClinVar Miner

Variants with conflicting interpretations between Women's Health and Genetics/Laboratory Corporation of America, LabCorp and EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1104 999 0 295 325 7 21 648

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 0 2 0 0 0 0
likely pathogenic 1 0 0 0 0 0
uncertain significance 8 10 0 9 8 1
likely benign 0 2 207 0 142 2
benign 1 0 101 150 0 4

All variants with conflicting interpretations #

Total variants: 648
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000038.6(APC):c.1005A>G (p.Leu335=) rs3797704
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.4212C>T (p.Ser1404=) rs144655979
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000051.3(ATM):c.1073A>G (p.Asn358Ser) rs149636614
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.3517T>C (p.Leu1173=) rs141460670
NM_000051.3(ATM):c.4665C>T (p.Leu1555=) rs374431061
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.610G>A (p.Gly204Arg) rs147915571
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.7592T>C (p.Met2531Thr) rs587781365
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7928-10T>C rs188404773
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000059.3(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408
NM_000059.3(BRCA2):c.1167G>A (p.Pro389=) rs148607710
NM_000059.3(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.3(BRCA2):c.4071A>C (p.Leu1357=) rs140556653
NM_000059.3(BRCA2):c.502C>A (p.Pro168Thr) rs80358726
NM_000059.3(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853
NM_000059.3(BRCA2):c.6288T>G (p.Pro2096=) rs372527810
NM_000059.3(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906
NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912
NM_000059.3(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000059.3(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114
NM_000059.3(BRCA2):c.9270C>T (p.Phe3090=) rs587780873
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His) rs80358398
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.322A>C (p.Asn108His) rs80358567
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) rs779774302
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000091.4(COL4A3):c.4295G>A (p.Arg1432His) rs200509072
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000110.3(DPYD):c.775A>G (p.Lys259Glu) rs45589337
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000138.4(FBN1):c.2148A>G (p.Gly716=) rs141039922
NM_000138.4(FBN1):c.2892C>T (p.Asp964=) rs116945525
NM_000138.4(FBN1):c.3464-6C>T rs375596551
NM_000138.4(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.7964C>T (p.Ala2655Val) rs202240409
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000151.4(G6PC1):c.340+10C>A rs368450665
NM_000152.5(GAA):c.-2C>T rs560511228
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) rs398123172
NM_000152.5(GAA):c.2332-12A>T rs200965268
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896
NM_000152.5(GAA):c.2647-8C>T rs139201641
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) rs138034915
NM_000155.4(GALT):c.203A>C (p.His68Pro) rs193922247
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000157.4(GBA):c.1060G>C (p.Asp354His) rs398123526
NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000169.2(GLA):c.870G>C (p.Met290Ile) rs869312438
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362
NM_000179.2(MSH6):c.1665A>G (p.Ala555=) rs146785465
NM_000179.2(MSH6):c.2418C>T (p.Ser806=) rs770992427
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.660A>C (p.Glu220Asp) rs1800938
NM_000179.2(MSH6):c.984C>T (p.Ser328=) rs138143769
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.333G>A (p.Gly111=) rs61732425
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000243.3(MEFV):c.1223G>A rs11466024
NM_000243.3(MEFV):c.329T>C rs11466018
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000243.3(MEFV):c.585G>A rs200766991
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000251.2(MSH2):c.2400A>G (p.Leu800=) rs201298777
NM_000251.2(MSH2):c.557A>G (p.Asn186Ser) rs151129360
NM_000253.3(MTTP):c.383T>C (p.Ile128Thr) rs3816873
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311
NM_000258.3(MYL3):c.81T>C (p.Pro27=) rs147584015
NM_000264.5(PTCH1):c.-24_-22GGC[5] rs71366293
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099
NM_000337.5(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.5(SGCD):c.144G>C (p.Val48=) rs372152495
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.402T>C (p.Ala134=) rs190935424
NM_000337.5(SGCD):c.793G>A (p.Val265Ile) rs772185467
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509
NM_000455.4(STK11):c.357C>T (p.Asn119=) rs372511774
NM_000455.4(STK11):c.464+9G>A rs376313955
NM_000455.4(STK11):c.825G>A (p.Pro275=) rs202011521
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000457.4(HNF4A):c.1387A>G (p.Ile463Val) rs147638455
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946
NM_000466.3(PEX1):c.2868T>A (p.Val956=) rs200663477
NM_000492.3(CFTR):c.*2G>A rs150914702
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.3(CFTR):c.1365G>A (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1446T>A (p.Ile482=) rs914422460
NM_000492.3(CFTR):c.164+12T>C rs121908790
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.2245C>T (p.Leu749=) rs151235408
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.2559T>C (p.Ile853=) rs1800104
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2736G>A (p.Ser912=) rs200901072
NM_000492.3(CFTR):c.2769C>T (p.Ala923=) rs1800108
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.3564G>A (p.Ser1188=) rs146804928
NM_000492.3(CFTR):c.360G>A (p.Ala120=) rs1800077
NM_000492.3(CFTR):c.3852A>G (p.Lys1284=) rs547248892
NM_000492.3(CFTR):c.4197C>G (p.Leu1399=) rs79688066
NM_000492.3(CFTR):c.4242+10T>C rs138642693
NM_000492.3(CFTR):c.4243-5C>T rs114402068
NM_000492.3(CFTR):c.4296C>T (p.Asn1432=) rs761669740
NM_000492.3(CFTR):c.853A>T (p.Ile285Phe) rs151073129
NM_000492.3(CFTR):c.870-7_870-5del rs759762840
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.4(CFTR):c.274-6T>C rs371315549
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038
NM_000520.6(HEXA):c.1527-6T>C rs199914308
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748
NM_000535.7(PMS2):c.353+9A>C rs139990791
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453
NM_000546.5(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.5068+9G>A rs45445593
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000551.3(VHL):c.183C>G (p.Pro61=) rs63650860
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421
NM_001035.3(RYR2):c.10155A>G (p.Leu3385=) rs543120030
NM_001035.3(RYR2):c.10231-4T>C rs117180147
NM_001035.3(RYR2):c.10324-4A>G rs72751287
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT rs727504630
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460
NM_001035.3(RYR2):c.385-9A>C rs140998248
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.3(RYR2):c.8831-9A>C rs187977513
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887
NM_001037.5(SCN1B):c.448+193G>A rs66876876
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu) rs587778542
NM_001079802.2(FKTN):c.*4388del rs148253503
NM_001079802.2(FKTN):c.333T>C (p.Thr111=) rs141729611
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_001079802.2(FKTN):c.748T>C (p.Cys250Arg) rs398123558
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592
NM_001135599.3(TGFB2):c.979C>T (p.Arg327Trp) rs863223792
NM_001142571.2(RAD51D):c.758A>G (p.Glu253Gly) rs28363284
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=) rs45602336
NM_001163817.2(DHCR7):c.1012G>A (p.Val338Met) rs72954276
NM_001163817.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001164277.1(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644
NM_001164617.2(GPC3):c.1236-8T>C rs182950534
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys) rs190565627
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) rs183923129
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly) rs201835888
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met) rs148551876
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp) rs202234492
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556
NM_001267550.2(TTN):c.17183-9T>C rs141687561
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser) rs200866883
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln) rs201418615
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe) rs201523784
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=) rs150544093
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998
NM_001267550.2(TTN):c.28644G>A (p.Thr9548=) rs376744914
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505
NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu) rs768632287
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln) rs200459347
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=) rs79232842
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val) rs72650030
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=) rs372124201
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=) rs143049740
NM_001267550.2(TTN):c.41330-7T>A rs373636988
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys) rs200445568
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val) rs115813214
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050
NM_001267550.2(TTN):c.50858-3C>T rs587782987
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln) rs370390570
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile) rs200387466
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=) rs187366691
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823
NM_001267550.2(TTN):c.55659G>A (p.Val18553=) rs368450420
NM_001267550.2(TTN):c.5739C>T (p.Thr1913=) rs530291008
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly) rs371719028
NM_001267550.2(TTN):c.59344+3G>A rs142095604
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met) rs375173874
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly) rs72646849
NM_001267550.2(TTN):c.63960T>A (p.Val21320=) rs397517655
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile) rs200343420
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr) rs180828370
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys) rs149763294
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu) rs72646899
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val) rs199508062
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=) rs371344165
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=) rs372543652
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser) rs186681106
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) rs150682764
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) rs147207100
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) rs55634791
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met) rs143035953
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) rs376820301
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val) rs72648221
NM_001267550.2(TTN):c.85953A>G (p.Leu28651=) rs546573613
NM_001267550.2(TTN):c.86526T>G (p.Val28842=) rs72648226
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg) rs72648228
NM_001267550.2(TTN):c.87707-4G>T rs201770959
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser) rs183013408
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His) rs111727915
NM_001267550.2(TTN):c.8902+14T>A rs13388274
NM_001267550.2(TTN):c.89946C>T (p.Val29982=) rs373311459
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val) rs182549226
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=) rs183620684
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=) rs72648266
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=) rs373853269
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu) rs190967471
NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr) rs560306385
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001354689.3(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_001354689.3(RAF1):c.1728+4A>G rs771344560
NM_001354689.3(RAF1):c.639T>C (p.Thr213=) rs397516823
NM_001360.2(DHCR7):c.1368C>T (p.Gly456=) rs144562471
NM_001374258.1(BRAF):c.2247+3A>G rs371976102
NM_001374258.1(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292
NM_002471.3(MYH6):c.5652C>T (p.Ala1884=) rs200662317
NM_002471.4(MYH6):c.1275C>T (p.Ile425=) rs61742470
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350
NM_002485.4(NBN):c.1036G>A (p.Val346Met) rs200297914
NM_002485.4(NBN):c.1089C>T (p.Tyr363=) rs121908974
NM_002485.4(NBN):c.1222A>G (p.Lys408Glu) rs34120922
NM_002485.4(NBN):c.1809C>A (p.Phe603Leu) rs192236678
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg) rs541223359
NM_002834.4(PTPN11):c.132C>T (p.Ser44=) rs397507502
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227
NM_002878.3(RAD51D):c.146C>T (p.Ala49Val) rs140317560
NM_002878.3(RAD51D):c.26G>C (p.Cys9Ser) rs140825795
NM_002878.3(RAD51D):c.481-7G>A rs145832514
NM_002878.3(RAD51D):c.568G>A (p.Ala190Thr) rs80116829
NM_002878.3(RAD51D):c.919G>A (p.Glu307Lys) rs115031549
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003673.3(TCAP):c.270G>A (p.Pro90=) rs372538567
NM_003673.4(TCAP):c.132C>T (p.Asp44=) rs397516861
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004006.2(DMD):c.1731A>T (p.Glu577Asp) rs150199251
NM_004006.2(DMD):c.4876G>A (p.Val1626Met) rs776998846
NM_004006.2(DMD):c.7427A>G (p.Asn2476Ser) rs757394130
NM_004006.2(DMD):c.821A>G (p.Tyr274Cys) rs745868830
NM_004006.2(DMD):c.9486G>A (p.Glu3162=) rs370724251
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr) rs61756328
NM_004329.2(BMPR1A):c.1395G>C (p.Pro465=) rs55845713
NM_004333.6(BRAF):c.-5A>G rs71645936
NM_004333.6(BRAF):c.138+17C>G rs756400234
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240
NM_004572.3(PKP2):c.789G>A (p.Thr263=) rs760432217
NM_004612.4(TGFBR1):c.-2C>T rs200224304
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543
NM_005591.3(MRE11):c.1798G>C (p.Glu600Gln) rs145415033
NM_005591.3(MRE11):c.426C>T (p.Asp142=) rs3218740
NM_005591.3(MRE11):c.822T>C (p.Leu274=) rs137868143
NM_005633.3(SOS1):c.*4C>T rs188849286
NM_005633.3(SOS1):c.1770G>A (p.Glu590=) rs553331572
NM_005633.3(SOS1):c.1953A>G (p.Pro651=) rs141507912
NM_005633.3(SOS1):c.2511-9dup rs727503436
NM_005633.3(SOS1):c.2728G>C (p.Asp910His) rs369277679
NM_005633.3(SOS1):c.2966G>A (p.Arg989Lys) rs202043599
NM_005633.3(SOS1):c.3391+7A>G rs201982464
NM_005633.3(SOS1):c.3600C>G (p.Asp1200Glu) rs141594736
NM_005633.3(SOS1):c.698A>G (p.Asn233Ser) rs144934321
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088
NM_005751.4(AKAP9):c.10767G>A (p.Leu3589=) rs56198613
NM_005751.4(AKAP9):c.8286A>C (p.Lys2762Asn) rs144875383
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052
NM_006767.4(LZTR1):c.1333G>A (p.Val445Met) rs201070853
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834
NM_007078.3(LDB3):c.689+10G>A rs45563234
NM_007294.3(BRCA1):c.4097-10G>A rs80358057
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe) rs369588942
NM_007294.4(BRCA1):c.1467G>A (p.Glu489=) rs794726997
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=) rs1800064
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=) rs786201784
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280
NM_007294.4(BRCA1):c.389A>T (p.Tyr130Phe) rs56055578
NM_007294.4(BRCA1):c.4047G>A (p.Thr1349=) rs758515222
NM_007294.4(BRCA1):c.4209C>T (p.Asn1403=) rs786201224
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860
NM_007294.4(BRCA1):c.522A>G (p.Gln174=) rs765432756
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476
NM_015120.4(ALMS1):c.12441G>T (p.Arg4147=) rs35902379
NM_015120.4(ALMS1):c.1456A>G (p.Ile486Val) rs73945001
NM_015120.4(ALMS1):c.1841G>A (p.Gly614Asp) rs148040591
NM_015120.4(ALMS1):c.2039A>G (p.Tyr680Cys) rs199573929
NM_015120.4(ALMS1):c.3378A>G (p.Val1126=) rs189914793
NM_015120.4(ALMS1):c.3735G>A (p.Lys1245=) rs140670994
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr) rs201878539
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211
NM_016418.5(NF2):c.1123-6C>T rs147898623
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017780.4(CHD7):c.2835+8T>C rs202141372
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849
NM_017780.4(CHD7):c.7165-5A>G rs376076407
NM_017890.4(VPS13B):c.10294G>A (p.Gly3432Arg) rs6468694
NM_020661.4(AICDA):c.48A>G (p.Lys16=) rs186739900
NM_020975.6(RET):c.1157C>T (p.Ala386Val) rs115272158
NM_020975.6(RET):c.1158G>A (p.Ala386=) rs373540097
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920
NM_024675.3(PALB2):c.2365C>T (p.Leu789=) rs145805054
NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro) rs149522412
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974
NM_030662.3(MAP2K2):c.919+4C>T rs763424788
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241
NM_032043.2(BRIP1):c.2937A>G (p.Lys979=) rs75091137
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_033337.3(CAV3):c.40G>A (p.Val14Ile) rs121909281
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907
NM_133378.4(TTN):c.80602+8T>C rs369690199
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690
NM_138694.4(PKHD1):c.1964+17G>T rs201349527
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878
NM_170707.4(LMNA):c.1051A>C (p.Arg351=) rs771623461
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.4(LMNA):c.726G>A (p.Ala242=) rs763625309
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956
NM_172056.2(KCNH2):c.2331C>T (p.Thr777=) rs41307292
NM_172056.2(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup) rs35574083
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp) rs587780375
NM_212472.2(PRKAR1A):c.798G>A (p.Thr266=) rs201774040

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