ClinVar Miner

Variants with conflicting interpretations between ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and GeneDx

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories:
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
997 3077 0 583 268 2 40 892

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 risk factor
pathogenic 0 17 7 0 0 0
likely pathogenic 26 0 7 0 0 0
uncertain significance 5 20 0 191 17 0
likely benign 0 0 49 0 270 1
benign 2 0 11 270 0 0
risk factor 0 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 892
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) rs373715782
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_000020.2(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686
NM_000020.2(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810
NM_000038.6(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845
NM_000038.6(APC):c.532-32T>C rs112108777
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.7630-17T>C rs116047570
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.9006C>T (p.Phe3002=) rs540172506
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233
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.6795C>T rs3218699
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) rs74085888
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000059.3(BRCA2):c.*14C>T rs373436334
NM_000059.3(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327
NM_000059.3(BRCA2):c.10240A>G (p.Thr3414Ala) rs80358405
NM_000059.3(BRCA2):c.1167G>A (p.Pro389=) rs148607710
NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.2025A>G (p.Thr675=) rs147381487
NM_000059.3(BRCA2):c.3575T>G (p.Phe1192Cys) rs80358606
NM_000059.3(BRCA2):c.3661T>C (p.Ser1221Pro) rs80358611
NM_000059.3(BRCA2):c.4271C>G (p.Ser1424Cys) rs80358664
NM_000059.3(BRCA2):c.4314C>T (p.Val1438=) rs730881590
NM_000059.3(BRCA2):c.476-9dup rs276174849
NM_000059.3(BRCA2):c.4977C>T (p.Ser1659=) rs45484897
NM_000059.3(BRCA2):c.5427C>T (p.Cys1809=) rs80359791
NM_000059.3(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768
NM_000059.3(BRCA2):c.5498A>G (p.Asn1833Ser) rs587782601
NM_000059.3(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776
NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643
NM_000059.3(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822
NM_000059.3(BRCA2):c.6323G>T (p.Arg2108Leu) rs35029074
NM_000059.3(BRCA2):c.6675A>G (p.Thr2225=) rs28897741
NM_000059.3(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896
NM_000059.3(BRCA2):c.6921A>G (p.Ser2307=) rs181183366
NM_000059.3(BRCA2):c.6960G>A (p.Leu2320=) rs373134168
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7188G>T (p.Leu2396Phe) rs587780871
NM_000059.3(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978
NM_000059.3(BRCA2):c.8124T>G (p.Thr2708=) rs587780662
NM_000059.3(BRCA2):c.8356G>A (p.Ala2786Thr) rs80359077
NM_000059.3(BRCA2):c.9257-113T>G rs191553604
NM_000059.3(BRCA2):c.927A>G (p.Ser309=) rs80359806
NM_000059.3(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224
NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.3(BRCA2):c.9583A>G (p.Thr3195Ala) rs80359227
NM_000059.3(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229
NM_000059.3(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241
NM_000059.3(BRCA2):c.9738C>T (p.Ala3246=) rs80359811
NM_000059.3(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618
NM_000059.4(BRCA2):c.-15A>C rs138705202
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144
NM_000071.2(CBS):c.1059G>A (p.Thr353=) rs61735859
NM_000071.2(CBS):c.1266G>A (p.Pro422=) rs150146702
NM_000071.2(CBS):c.829-91G>A rs150181241
NM_000071.3(CBS):c.531+11G>A rs186114513
NM_000088.3(COL1A1):c.2115C>T (p.Asn705=) rs41316673
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000089.3(COL1A2):c.1036-12A>G rs41316929
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.2349+16G>C rs112603291
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311
NM_000089.3(COL1A2):c.3853A>C (p.Asn1285His) rs144797861
NM_000089.3(COL1A2):c.595-20C>T rs192022673
NM_000089.3(COL1A2):c.70+719_70+720del rs201691876
NM_000089.3(COL1A2):c.96+10C>T rs185341110
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000109.4(DMD):c.7547G>A (p.Arg2516His) rs151244052
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000118.3(ENG):c.1455G>A (p.Glu485=) rs150456852
NM_000118.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) rs138438849
NM_000138.4(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368
NM_000138.4(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.4(FBN1):c.6705A>C (p.Gly2235=) rs2229326
NM_000138.4(FBN1):c.7994A>G (p.Asn2665Ser) rs763173031
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) rs144822241
NM_000138.5(FBN1):c.6453C>T rs794728251
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000142.5(FGFR3):c.2088C>T (p.Pro696=) rs142884145
NM_000143.3(FH):c.53C>T (p.Pro18Leu) rs201887750
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser) rs1131691644
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867
NM_000179.2(MSH6):c.-8C>T rs565211544
NM_000179.2(MSH6):c.1665A>G (p.Ala555=) rs146785465
NM_000179.2(MSH6):c.2314C>A (p.Arg772=) rs63750138
NM_000179.2(MSH6):c.3162C>T (p.Ile1054=) rs149605979
NM_000179.2(MSH6):c.3173-18T>A rs189672273
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000218.3(KCNQ1):c.1860C>T (p.His620=) rs139893266
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000243.2(MEFV):c.1043G>A (p.Arg348His) rs104895198
NM_000243.2(MEFV):c.1261-11T>G rs77086855
NM_000243.2(MEFV):c.1518C>T (p.Ile506=) rs104895099
NM_000243.2(MEFV):c.1587+33C>G rs146820856
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.549G>A (p.Pro183=) rs587781035
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.329T>C rs11466018
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.30G>T (p.Leu10=) rs371192390
NM_000245.4(MET):c.-14-4G>A rs144126521
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.42A>C (p.Thr14=) rs369737664
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000251.2(MSH2):c.1277-8T>C rs145400590
NM_000251.2(MSH2):c.4G>A (p.Ala2Thr) rs63750466
NM_000254.2(MTR):c.1033G>A (p.Val345Ile) rs145006491
NM_000254.2(MTR):c.1076-8C>T rs115186224
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val) rs121913644
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.5283+19C>T rs45582836
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His) rs145766839
NM_000267.3(NF1):c.1846-12A>T rs188510882
NM_000267.3(NF1):c.2252-34T>C rs200937398
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.4772+36T>C rs16972128
NM_000267.3(NF1):c.7394+21A>G rs17881641
NM_000267.3(NF1):c.7491C>G (p.Ala2497=) rs141897690
NM_000267.3(NF1):c.7847G>A (p.Arg2616Gln) rs560262404
NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) rs62295357
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237
NM_000314.7(PTEN):c.855A>G (p.Glu285=) rs751888926
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000321.2(RB1):c.2521-11G>A rs4151624
NM_000326.5(RLBP1):c.141+2T>C rs760650165
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926
NM_000335.5(SCN5A):c.2437-5C>A rs72549411
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=) rs200556220
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.5196+1159G>A rs80110715
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000368.4(TSC1):c.3303G>A (p.Glu1101=) rs118203751
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353
NM_000455.4(STK11):c.1296G>A (p.Gln432=) rs587781179
NM_000455.4(STK11):c.357C>T (p.Asn119=) rs372511774
NM_000455.4(STK11):c.945G>A (p.Pro315=) rs376329042
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885
NM_000465.4(BARD1):c.90T>A (p.Gly30=) rs150354152
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) rs199665722
NM_000492.3(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000535.7(PMS2):c.1144+1G>A rs373885654
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) rs137853247
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala) rs139753238
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.4493+17C>T rs45517345
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.848+276C>G rs60154230
NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=) rs114716391
NM_000719.7(CACNA1C):c.3829-614A>G rs114851656
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586
NM_000744.7(CHRNA4):c.1360G>A (p.Gly454Ser) rs78306886
NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645
NM_000941.3(POR):c.1898+3G>A rs41301439
NM_000941.3(POR):c.517-4G>A rs41299496
NM_001003800.2(BICD2):c.2258+15G>C rs140501870
NM_001005360.2(DNM2):c.1782-5C>T rs200103145
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) rs150613209
NM_001006658.2(CR2):c.2298G>A (p.Trp766Ter) rs151093663
NM_001007792.1(NTRK1):c.123-3404C>T rs201472270
NM_001007792.1(NTRK1):c.1800G>A (p.Ala600=) rs17838192
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=) rs397516505
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582
NM_001039213.4(CEACAM16):c.781G>A (p.Glu261Lys) rs201188632
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.6922-14_6922-13del rs146785663
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365
NM_001042492.3(NF1):c.7971-8del rs564545012
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528
NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly) rs200502817
NM_001048171.1(MUTYH):c.1506G>A (p.Pro502=) rs143796254
NM_001048171.1(MUTYH):c.654C>T (p.Thr218=) rs780747266
NM_001048171.1(MUTYH):c.956-9C>T rs3219488
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043
NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu) rs4149637
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys) rs200900510
NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) rs34946978
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896
NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) rs34827377
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704
NM_001110556.2(FLNA):c.3805+16G>A rs201016252
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) rs781878646
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310
NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu) rs371724771
NM_001110556.2(FLNA):c.861C>T (p.Tyr287=) rs375503410
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=) rs142281464
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127511.3(APC):c.-126dup rs565045828
NM_001127511.3(APC):c.-181C>T rs115658307
NM_001128849.2(SMARCA4):c.2716C>T (p.Arg906Cys) rs898406635
NM_001128849.2(SMARCA4):c.4864+15G>C rs113131294
NM_001128849.2(SMARCA4):c.930C>A (p.Arg310=) rs146141457
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile) rs201213597
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321
NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=) rs149271718
NM_001130823.3(DNMT1):c.4773+18C>T rs183300496
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369
NM_001130823.3(DNMT1):c.891+8C>T rs117294281
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280
NM_001145809.2(MYH14):c.826A>G (p.Ile276Val) rs55645295
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val) rs45570339
NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg) rs371787039
NM_001148.6(ANK2):c.4372-7C>T rs370720661
NM_001148.6(ANK2):c.7059A>G (p.Gln2353=) rs145782226
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=) rs143161930
NM_001148.6(ANK2):c.7902G>A (p.Val2634=) rs150878494
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr) rs74348333
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460
NM_001195248.2(APTX):c.513G>A (p.Leu171=) rs140888559
NM_001235.4(SERPINH1):c.744C>T (p.Asp248=) rs61733248
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=) rs34698071
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338
NM_001267550.2(TTN):c.11311+1641C>T rs140804168
NM_001267550.2(TTN):c.11311+2573T>C rs72647897
NM_001267550.2(TTN):c.11311+4672C>T rs149748934
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr) rs201744218
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) rs142794598
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu) rs200061856
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=) rs187182557
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722
NM_001267550.2(TTN):c.25921+20G>A rs148460010
NM_001267550.2(TTN):c.26201-11dup rs727503644
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654
NM_001267550.2(TTN):c.28924A>G (p.Ser9642Gly) rs367888853
NM_001267550.2(TTN):c.29963-13A>G rs72650008
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438
NM_001267550.2(TTN):c.31070A>G (p.His10357Arg) rs1343660563
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys) rs772195716
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019
NM_001267550.2(TTN):c.31847-17A>G rs72650025
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) rs199620003
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro) rs376836503
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067
NM_001267550.2(TTN):c.34856-17A>G rs188686309
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=) rs115493456
NM_001267550.2(TTN):c.38708-4T>C rs200819643
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202
NM_001267550.2(TTN):c.41010T>C (p.Asp13670=) rs193191368
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser) rs376857956
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg) rs368502650
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231
NM_001267550.2(TTN):c.47196G>C (p.Val15732=) rs369979598
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala) rs768961892
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala) rs773027240
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln) rs372618781
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808
NM_001267550.2(TTN):c.53100T>G (p.Pro17700=) rs373140387
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679
NM_001267550.2(TTN):c.54812-5A>G rs375343798
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) rs372541479
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705
NM_001267550.2(TTN):c.583+5G>A rs397517663
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=) rs186563991
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260
NM_001267550.2(TTN):c.65575+10T>C rs72646864
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498
NM_001267550.2(TTN):c.69716-5C>G rs72646886
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=) rs587780986
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser) rs776256093
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly) rs145373396
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) rs199859344
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile) rs750362675
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=) rs72648230
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser) rs187460377
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val) rs182549226
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) rs397517756
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246
NM_001276345.2(TNNT2):c.720-13_720-11del rs397516480
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001278074.1(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_001278074.1(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_001278074.1(COL5A1):c.5250G>A (p.Val1750=) rs200348547
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu) rs7190978
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) rs113058506
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001354689.3(RAF1):c.1728+19G>T rs5746245
NM_001365536.1(SCN9A):c.2517+6C>T rs145316463
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr) rs547205132
NM_001376.5(DYNC1H1):c.9264-8T>G rs368432468
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg) rs145673747
NM_001457.4(FLNB):c.274A>G (p.Ile92Val) rs62622011
NM_001457.4(FLNB):c.3240G>A (p.Pro1080=) rs77989135
NM_001457.4(FLNB):c.3785G>C (p.Gly1262Ala) rs111330368
NM_001457.4(FLNB):c.4222+8A>G rs190025781
NM_001457.4(FLNB):c.4390+8T>A rs377095569
NM_001457.4(FLNB):c.5646G>A (p.Pro1882=) rs114882667
NM_001457.4(FLNB):c.5769C>T (p.Ala1923=) rs201723447
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=) rs145280904
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=) rs140786324
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=) rs138416613
NM_001457.4(FLNB):c.7099G>A (p.Val2367Ile) rs115747856
NM_001457.4(FLNB):c.7198+20C>G rs201580886
NM_001605.2(AARS1):c.1632C>T (p.Asp544=) rs149425243
NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp) rs138081804
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922
NM_001844.5(COL2A1):c.2095-4G>A rs111570218
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) rs142161948
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser) rs78690642
NM_001844.5(COL2A1):c.708+8C>T rs41317893
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val) rs375527314
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193
NM_001972.4(ELANE):c.558C>A (p.Val186=) rs878855317
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu) rs139519507
NM_001985.3(ETFB):c.709G>A (p.Val237Ile) rs149129214
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.255-18C>A rs200300875
NM_001999.4(FBN2):c.2555-184T>G rs62375019
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253
NM_001999.4(FBN2):c.5353+10C>T rs113589974
NM_001999.4(FBN2):c.5917+9T>G rs371439173
NM_001999.4(FBN2):c.7012+7G>A rs199735209
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.4(FBN2):c.7471+6G>A rs200998513
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041
NM_002109.6(HARS1):c.234C>T (p.Asp78=) rs142994969
NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430
NM_002180.2(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002437.5(MPV17):c.444G>A (p.Leu148=) rs776964645
NM_002454.3(MTRR):c.1982A>G (p.His661Arg) rs148909799
NM_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323
NM_002471.4(MYH6):c.3927T>C (p.Ser1309=) rs115742584
NM_002473.6(MYH9):c.4344+10C>T rs200977419
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys) rs111404182
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=) rs112990531
NM_002474.3(MYH11):c.4579-14C>T rs377410503
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=) rs114556043
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260
NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser) rs79129097
NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) rs142334798
NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) rs115321485
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002691.4(POLD1):c.1665C>T (p.Val555=) rs150238541
NM_002691.4(POLD1):c.849G>T (p.Gln283His) rs113282414
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002834.4(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val) rs116464756
NM_002838.5(PTPRC):c.177C>G (p.Pro59=) rs17612648
NM_002838.5(PTPRC):c.566T>A (p.Ile189Asn) rs201715157
NM_003000.2(SDHB):c.424-37TTC[10] rs34261028
NM_003000.3(SDHB):c.380T>G rs786201095
NM_003000.3(SDHB):c.423+20T>A rs190139590
NM_003001.5(SDHC):c.354T>C (p.Phe118=) rs61733156
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003122.4(SPINK1):c.101A>G (p.Asn34Ser) rs17107315
NM_003172.4(SURF1):c.54+10G>A rs587598397
NM_003239.4(TGFB3):c.164G>A (p.Ser55Asn) rs143229915
NM_003239.4(TGFB3):c.647-12C>G rs61762490
NM_003239.4(TGFB3):c.744C>A (p.Ile248=) rs45477900
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003680.3(YARS1):c.60G>A (p.Glu20=) rs143712443
NM_003850.2(SUCLA2):c.37G>A (p.Val13Met) rs35201084
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly) rs200771233
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004006.2(DMD):c.10846A>G (p.Thr3616Ala) rs368996545
NM_004006.2(DMD):c.1513G>C (p.Val505Leu) rs140340626
NM_004006.2(DMD):c.2386G>A (p.Val796Ile) rs139726281
NM_004006.2(DMD):c.2971G>C (p.Glu991Gln) rs72468667
NM_004006.2(DMD):c.4233+2C>T rs147474070
NM_004006.2(DMD):c.8255A>G (p.Tyr2752Cys) rs373832446
NM_004006.2(DMD):c.9165G>A (p.Thr3055=) rs137905486
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590
NM_004239.4(TRIP11):c.3147G>A (p.Leu1049=) rs17127842
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) rs117748213
NM_004239.4(TRIP11):c.4164C>T (p.His1388=) rs140130380
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536
NM_004281.3(BAG3):c.1503C>A (p.Val501=) rs147277075
NM_004281.4(BAG3):c.888C>T (p.His296=) rs139399890
NM_004304.5(ALK):c.3594C>T (p.Leu1198=) rs56071005
NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser) rs143037290
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004329.2(BMPR1A):c.1419T>G (p.Val473=) rs145756629
NM_004329.2(BMPR1A):c.961C>T (p.Leu321=) rs377412651
NM_004360.5(CDH1):c.-71C>G rs34033771
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636
NM_004360.5(CDH1):c.2412C>T (p.Pro804=) rs202075199
NM_004360.5(CDH1):c.2440-6C>G rs139757930
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser) rs781513008
NM_004360.5(CDH1):c.84C>T (p.Cys28=) rs587780789
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780
NM_004452.3(ESRRB):c.1409C>T (p.Pro470Leu) rs201726554
NM_004517.4(ILK):c.631C>T (p.Arg211Cys) rs140322345
NM_004517.4(ILK):c.707A>G (p.Asn236Ser) rs145571020
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe) rs863223812
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly) rs139871607
NM_004895.4(NLRP3):c.1407C>T (p.Leu469=) rs141637807
NM_004895.4(NLRP3):c.214G>A (p.Val72Met) rs117287351
NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly) rs147946775
NM_004984.4(KIF5A):c.1293+9G>A rs201749114
NM_004984.4(KIF5A):c.2199-4G>A rs201366820
NM_004984.4(KIF5A):c.714+8G>A rs199624091
NM_004990.4(MARS1):c.1753+7A>G rs117914586
NM_004990.4(MARS1):c.280-14C>T rs183195960
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004999.4(MYO6):c.3246T>C (p.Tyr1082=) rs138437852
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) rs145097078
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=) rs113545983
NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His) rs144343770
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458
NM_005591.3(MRE11):c.913C>T (p.Arg305Trp) rs372000848
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_005691.3(ABCC9):c.1557G>A (p.Glu519=) rs143346402
NM_005691.3(ABCC9):c.2770-13A>G rs184123387
NM_005751.4(AKAP9):c.510G>C (p.Glu170Asp) rs144888041
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup) rs397517197
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala) rs111356679
NM_006070.6(TFG):c.258G>T (p.Leu86=) rs150620449
NM_006158.4(NEFL):c.584C>T (p.Ala195Val) rs185200977
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006231.3(POLE):c.2468+10C>T rs5744823
NM_006231.3(POLE):c.3275+12_3275+37del rs1057517627
NM_006231.3(POLE):c.6817A>T (p.Thr2273Ser) rs73481453
NM_006329.3(FBLN5):c.1122C>T (p.Tyr374=) rs145515678
NM_006329.3(FBLN5):c.376G>A (p.Val126Met) rs61734479
NM_006329.3(FBLN5):c.620-8T>C rs147699855
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) rs141292904
NM_006579.3(EBP):c.-74+3G>C rs188270695
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556
NM_006767.4(LZTR1):c.201-8C>T rs183476594
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp) rs563231684
NM_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336
NM_007078.3(LDB3):c.690-4823G>A rs121908338
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007294.3(BRCA1):c.4097-10G>A rs80358057
NM_007294.3(BRCA1):c.5152+10A>G rs80358114
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr) rs28897682
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val) rs56321129
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser) rs80356919
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923
NM_007294.4(BRCA1):c.3699A>G (p.Lys1233=) rs368690455
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457
NM_007294.4(BRCA1):c.4635C>T (p.His1545=) rs373686790
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=) rs587780863
NM_007294.4(BRCA1):c.5304C>T (p.Cys1768=) rs138493864
NM_007294.4(BRCA1):c.765G>A (p.Glu255=) rs62625299
NM_007299.4(BRCA1):c.593+3G>A rs80358013
NM_012222.2(MUTYH):c.1576C>A (p.Leu526Met) rs3219496
NM_012224.3(NEK1):c.2053G>A (p.Val685Met) rs199827465
NM_012224.3(NEK1):c.782G>A (p.Arg261His) rs200161705
NM_012452.2(TNFRSF13B):c.577T>C (p.Cys193Arg) rs764125338
NM_014000.2(VCL):c.2827C>G (p.Pro943Ala) rs71579375
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014000.3(VCL):c.622+4C>T rs201020802
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924
NM_014365.2(HSPB8):c.432-16C>T rs183447670
NM_014391.2(ANKRD1):c.346-15T>A rs11595794
NM_014646.2(LPIN2):c.1815G>A (p.Ser605=) rs143702044
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala) rs61729092
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_014874.3(MFN2):c.957C>T (p.Gly319=) rs41278632
NM_015340.4(LARS2):c.765G>A (p.Ala255=) rs116272561
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp) rs142990800
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) rs76593842
NM_016169.3(SUFU):c.1018G>T (p.Ala340Ser) rs34135067
NM_016938.5(EFEMP2):c.368-4G>A rs111550973
NM_017636.4(TRPM4):c.1368C>G (p.Thr456=) rs56118173
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737
NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) rs56355369
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter) rs140799936
NM_017636.4(TRPM4):c.755G>A (p.Arg252His) rs146564314
NM_017636.4(TRPM4):c.870C>T (p.Asn290=) rs141997826
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486
NM_020297.3(ABCC9):c.4512+16C>T rs376147813
NM_020312.4(COQ9):c.362T>C (p.Ile121Thr) rs547254482
NM_020320.5(RARS2):c.472_474del (p.Lys158del) rs757743894
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
NM_020366.3(RPGRIP1):c.930+3A>G rs150107283
NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020631.5(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399
NM_020956.2(PRX):c.*2459G>A rs147587689
NM_020956.2(PRX):c.*3701C>T rs147826200
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.2037C>T (p.Pro679=) rs55862116
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) rs115976458
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) rs541606391
NM_021625.4(TRPV4):c.1744C>T (p.Leu582=) rs35078611
NM_021625.4(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636
NM_021625.4(TRPV4):c.2043C>T (p.Gly681=) rs375633647
NM_021625.4(TRPV4):c.712+10C>T rs115657305
NM_021939.3(FKBP10):c.1363A>G (p.Ile455Val) rs146701946
NM_021939.4(FKBP10):c.1256+17dup rs55720039
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) rs77821631
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn) rs111033494
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) rs369501114
NM_022356.3(P3H1):c.1529A>G (p.Asn510Ser) rs149894086
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe) rs201715539
NM_022970.3(FGFR2):c.110-54C>T rs3135732
NM_022970.3(FGFR2):c.1676-12C>T rs41293763
NM_023110.2(FGFR1):c.320C>T (p.Ser107Leu) rs140382957
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024334.2(TMEM43):c.392+16G>A rs150859949
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661
NM_024577.3(SH3TC2):c.1177+10G>A rs139257109
NM_024577.3(SH3TC2):c.477T>A (p.Ser159=) rs77574155
NM_024582.4(FAT4):c.12064C>T (p.Arg4022Trp) rs138019311
NM_024582.4(FAT4):c.739C>A (p.Pro247Thr) rs191329848
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.3(PALB2):c.12T>C (p.Pro4=) rs567706422
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136
NM_024753.5(TTC21B):c.2322+3A>G rs79037278
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265
NM_024753.5(TTC21B):c.262+16G>A rs192525886
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004
NM_024996.5(GFM1):c.568A>C (p.Met190Leu) rs75450876
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323
NM_030621.4(DICER1):c.3972G>A (p.Lys1324=) rs45562437
NM_030621.4(DICER1):c.5095+13C>T rs116247322
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301
NM_030777.4(SLC2A10):c.1289-6C>T rs199967429
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610
NM_031475.3(ESPN):c.1797_1808del (p.Pro602_Pro605del) rs548962140
NM_031475.3(ESPN):c.702C>G (p.Ser234=) rs367944375
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) rs4987050
NM_032043.2(BRIP1):c.430G>A (p.Ala144Thr) rs116952709
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) rs113498662
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646
NM_032415.6(CARD11):c.224G>A (p.Arg75Gln) rs1064795280
NM_032578.3(MYPN):c.2925+20A>C rs200111945
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln) rs147401037
NM_032667.6(BSCL2):c.908C>T (p.Pro303Leu) rs144245125
NM_033056.4(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754
NM_033056.4(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445
NM_033056.4(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) rs199988497
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.2125G>A (p.Val709Met) rs112537316
NM_053025.4(MYLK):c.260G>A (p.Gly87Glu) rs368325180
NM_053025.4(MYLK):c.3843C>T (p.Ser1281=) rs377231739
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_053025.4(MYLK):c.4620-6C>T rs113607507
NM_053025.4(MYLK):c.5448C>T (p.Arg1816=) rs56262958
NM_078470.6(COX15):c.1026C>T (p.Phe342=) rs147724430
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697
NM_080680.3(COL11A2):c.390G>C (p.Arg130=) rs149638770
NM_080680.3(COL11A2):c.3975G>A (p.Ser1325=) rs139564431
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_145861.3(EDARADD):c.308C>T (p.Ser103Phe) rs114632254
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165
NM_147127.5(EVC2):c.2047-9A>T rs73198154
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168
NM_153676.4(USH1C):c.1740T>C (p.Pro580=) rs200085788
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777
NM_170707.4(LMNA):c.1381-13A>G rs750192865
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490
NM_172056.2(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_172201.1(KCNE2):c.25C>G (p.Gln9Glu) rs16991652
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) rs9885480
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr) rs143628723
NM_181798.1(KCNQ1):c.145T>C (p.Trp49Arg) rs1554892900
NM_181798.1(KCNQ1):c.951G>A (p.Thr317=) rs144985256
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783
NM_182961.4(SYNE1):c.19991C>T (p.Thr6664Ile) rs35079654
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=) rs35106977
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770
NM_194248.3(OTOF):c.1185C>T (p.Thr395=) rs61739877
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) rs80356573
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) rs80356574
NM_194248.3(OTOF):c.4332C>T (p.Thr1444=) rs149236286
NM_194248.3(OTOF):c.5292-9C>T rs372713647
NM_194248.3(OTOF):c.710+10C>T rs55639868
NM_198056.2(SCN5A):c.5175G>A (p.Pro1725=) rs372629753
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343
NM_203486.3(DLL3):c.1384G>A (p.Ala462Thr) rs182454962
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp) rs113447586
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097
NR_001566.1(TERC):n.228G>A rs141686314
NR_003051.3(RMRP):n.140A>G rs578091934
Single allele rs28359170

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.