ClinVar Miner

List of variants reported as likely pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1343
Download table as spreadsheet
HGVS dbSNP
NC_000001.11:g.100455405C>T
NC_000001.11:g.1040722_1040726CGGGC[3]
NC_000001.11:g.1233041C>T
NC_000001.11:g.156134478_156134482delinsACTTGAAG
NC_000001.11:g.201359651G>A
NC_000001.11:g.209622539_209622557del
NC_000001.11:g.231262726C>T
NC_000001.11:g.47416559A>G
NC_000001.11:g.92263679del
NC_000001.11:g.92288988_92288992delinsC
NC_000002.12:g.174754379_174754380del
NC_000002.12:g.201640906del
NC_000003.12:g.52352631del
NC_000004.12:g.154744366G>T
NC_000005.10:g.146339811_146339812TG[4]
NC_000005.10:g.151859860del
NC_000005.10:g.83203697A>T
NC_000006.12:g.(?_133506020)_(133528840_?)del
NC_000006.12:g.116616739C>A
NC_000006.12:g.133462349_133462352TTCT[1]
NC_000006.12:g.152318265T>C
NC_000006.12:g.35805759dup
NC_000006.12:g.42966524C>T
NC_000006.12:g.7579624del
NC_000006.12:g.7580587dup
NC_000006.12:g.75828610_75828611delinsCTTTACTAAA
NC_000006.12:g.98905517C>A
NC_000007.14:g.5997388del
NC_000008.11:g.71216970dup
NC_000009.12:g.4125758_4125759dup
NC_000010.11:g.54195821del
NC_000010.11:g.70600647G>A
NC_000011.10:g.103153468dup
NC_000012.12:g.21560474del
NC_000012.12:g.47985588_47985589del
NC_000013.11:g.38848639_38848640CA[1]
NC_000014.8:g.(?_76905697)_(76967064_?)del
NC_000014.9:g.74503592G>A
NC_000014.9:g.75579363dup
NC_000014.9:g.91999298_91999301TCTT[1]
NC_000015.10:g.40030390del
NC_000015.10:g.48139176G>A
NC_000015.10:g.67066361G>C
NC_000016.10:g.1352307G>A
NC_000016.10:g.2297540C>G
NC_000016.10:g.28902912G>A
NC_000016.10:g.31464785_31464789GGCGC[3]
NC_000017.11:g.18126385C>A
NC_000017.11:g.44901599_44901602dup
NC_000017.11:g.74312180_74312181del
NC_000017.11:g.81510816C>G
NC_000018.10:g.23535537dup
NC_000018.10:g.23556257G>A
NC_000018.10:g.49963006del
NC_000019.10:g.13212102C>T
NC_000019.10:g.41970476A>T
NC_000019.9:g.(?_11230768)_(11240346_?)dup
NC_000019.9:g.(?_36494239)_(36499583_?)del
NC_000020.11:g.18527581del
NC_000021.9:g.42375757G>A
NC_000021.9:g.45507585C>T
NC_000023.10:g.(?_153640181)_(153641904_?)del
NC_012920.1:m.1027A>G rs727504555
NM_000016.5(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338
NM_000038.6(APC):c.1409-2A>G rs1064794163
NM_000038.6(APC):c.1917dup (p.Arg640fs) rs397515732
NM_000038.6(APC):c.4255del (p.Ser1419fs) rs727504420
NM_000038.6(APC):c.5718del (p.Ala1907fs) rs1554086923
NM_000038.6(APC):c.6542_6545del (p.Ile2181fs) rs1554087515
NM_000038.6(APC):c.7715C>G (p.Ser2572Ter) rs876659280
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663
NM_000049.3(ASPA):c.872_875AGAA[1] (p.Glu293fs) rs766720790
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807
NM_000059.3(BRCA2):c.6841+1G>A
NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.3(BRCA2):c.9784C>T
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000065.4(C6):c.1786C>T (p.Arg596Ter) rs142881576
NM_000087.3(CNGA1):c.959C>T rs62625014
NM_000090.3(COL3A1):c.1173del (p.Pro392fs) rs1553507863
NM_000090.3(COL3A1):c.1509+2T>C rs1553508039
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.3(COL3A1):c.2267G>A
NM_000090.3(COL3A1):c.754G>T (p.Gly252Cys) rs587779705
NM_000094.3(COL7A1):c.2993-2A>G rs1553612928
NM_000094.3(COL7A1):c.7557+1G>T rs786204774
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000116.5(TAZ):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAZ):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAZ):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAZ):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAZ):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAZ):c.647G>T (p.Gly216Val) rs727504431
NM_000116.5(TAZ):c.823C>T (p.Gln275Ter) rs397515750
NM_000117.2(EMD):c.83-2A>G rs727504901
NM_000123.3(ERCC5):c.1173dup (p.Lys392Ter) rs1283214655
NM_000123.3(ERCC5):c.3238C>T (p.Arg1080Ter) rs9514067
NM_000130.4(F5):c.1674C>A
NM_000132.3(F8):c.984T>G
NM_000138.4(FBN1):c.1559_1560AG[1] (p.Ser521fs) rs397515758
NM_000138.4(FBN1):c.1601G>A (p.Cys534Tyr) rs397515759
NM_000138.4(FBN1):c.164+2T>C rs727503058
NM_000138.4(FBN1):c.1714+2del rs876657645
NM_000138.4(FBN1):c.1837+1G>T rs397515762
NM_000138.4(FBN1):c.1948dupC
NM_000138.4(FBN1):c.2242T>C (p.Cys748Arg) rs397515765
NM_000138.4(FBN1):c.239G>A (p.Cys80Tyr) rs397515767
NM_000138.4(FBN1):c.2447G>C (p.Cys816Ser) rs397515770
NM_000138.4(FBN1):c.2448C>G (p.Cys816Trp) rs397515771
NM_000138.4(FBN1):c.2488T>G (p.Cys830Gly) rs397515773
NM_000138.4(FBN1):c.2489G>C (p.Cys830Ser) rs397515774
NM_000138.4(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.4(FBN1):c.2496T>G (p.Cys832Trp) rs397515776
NM_000138.4(FBN1):c.268_269delinsC (p.Gly90fs) rs397515778
NM_000138.4(FBN1):c.2691dup (p.Lys898Ter) rs397515779
NM_000138.4(FBN1):c.2833del (p.Ala945fs) rs397515781
NM_000138.4(FBN1):c.2942G>C (p.Cys981Ser) rs727505110
NM_000138.4(FBN1):c.299G>A (p.Cys100Tyr) rs397515782
NM_000138.4(FBN1):c.299G>T (p.Cys100Phe) rs397515782
NM_000138.4(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.4(FBN1):c.3193del (p.Glu1065fs) rs193922198
NM_000138.4(FBN1):c.32_42delTGGGATTTACC (p.Leu11Argfs) rs397515785
NM_000138.4(FBN1):c.3337+1G>A rs397515789
NM_000138.4(FBN1):c.3392A>G (p.Asn1131Ser) rs397515790
NM_000138.4(FBN1):c.3413G>A
NM_000138.4(FBN1):c.3413G>T (p.Cys1138Phe) rs397515791
NM_000138.4(FBN1):c.3589G>C (p.Asp1197His) rs397515793
NM_000138.4(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
NM_000138.4(FBN1):c.3848A>C (p.Glu1283Ala) rs397515796
NM_000138.4(FBN1):c.3886T>C (p.Cys1296Arg) rs397515797
NM_000138.4(FBN1):c.4016G>C (p.Cys1339Ser) rs397515798
NM_000138.4(FBN1):c.4048T>A (p.Cys1350Ser) rs397515799
NM_000138.4(FBN1):c.4160A>G (p.Tyr1387Cys) rs397515801
NM_000138.4(FBN1):c.4251_4259del (p.Gly1418_Cys1420del) rs397515803
NM_000138.4(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.4(FBN1):c.4364T>G (p.Ile1455Ser) rs397515807
NM_000138.4(FBN1):c.4367G>A (p.Cys1456Tyr) rs397515805
NM_000138.4(FBN1):c.4406G>C (p.Arg1469Pro) rs397515808
NM_000138.4(FBN1):c.4505G>A (p.Cys1502Tyr) rs397515810
NM_000138.4(FBN1):c.4531T>C (p.Cys1511Arg) rs397515811
NM_000138.4(FBN1):c.4675_4718del (p.Lys1559fs) rs727503056
NM_000138.4(FBN1):c.4781G>A (p.Gly1594Asp) rs267606798
NM_000138.4(FBN1):c.4937G>A (p.Cys1646Tyr) rs397515814
NM_000138.4(FBN1):c.4942G>A (p.Asp1648Asn) rs397515816
NM_000138.4(FBN1):c.497G>C (p.Cys166Ser) rs397515818
NM_000138.4(FBN1):c.5066del (p.Asp1689fs) rs727504347
NM_000138.4(FBN1):c.5251C>T (p.Gln1751Ter) rs397515820
NM_000138.4(FBN1):c.529T>C (p.Cys177Arg) rs363853
NM_000138.4(FBN1):c.5437C>T (p.Gln1813Ter) rs397515821
NM_000138.4(FBN1):c.5504G>A (p.Cys1835Tyr) rs111929350
NM_000138.4(FBN1):c.5512G>T (p.Gly1838Cys) rs397515823
NM_000138.4(FBN1):c.5588G>A (p.Gly1863Glu) rs113086760
NM_000138.4(FBN1):c.561del (p.Phe187fs) rs397515825
NM_000138.4(FBN1):c.5721C>G (p.Asn1907Lys) rs397515826
NM_000138.4(FBN1):c.5747G>A (p.Cys1916Tyr) rs397515827
NM_000138.4(FBN1):c.5840G>A (p.Cys1947Tyr) rs397515828
NM_000138.4(FBN1):c.5869C>T (p.Gln1957Ter) rs397515829
NM_000138.4(FBN1):c.5888del (p.Glu1963fs) rs727504315
NM_000138.4(FBN1):c.6119G>A (p.Cys2040Tyr) rs397515830
NM_000138.4(FBN1):c.6289G>T (p.Glu2097Ter) rs397515831
NM_000138.4(FBN1):c.6354C>G (p.Ile2118Met) rs112989722
NM_000138.4(FBN1):c.6354C>T (p.Ile2118=) rs112989722
NM_000138.4(FBN1):c.6379+1G>A rs397515833
NM_000138.4(FBN1):c.6509G>A (p.Cys2170Tyr) rs363821
NM_000138.4(FBN1):c.6515_6516delinsG (p.Val2172fs) rs397515834
NM_000138.4(FBN1):c.6617-9_6617-8inv rs397515835
NM_000138.4(FBN1):c.6630T>G (p.Cys2210Trp) rs397515836
NM_000138.4(FBN1):c.6656T>C (p.Phe2219Ser) rs397515837
NM_000138.4(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.4(FBN1):c.6841C>T (p.Gln2281Ter) rs397515840
NM_000138.4(FBN1):c.6920G>A (p.Cys2307Tyr) rs137854457
NM_000138.4(FBN1):c.7016G>A (p.Cys2339Tyr) rs1555394580
NM_000138.4(FBN1):c.7094G>A (p.Cys2365Tyr) rs397515845
NM_000138.4(FBN1):c.7168T>C (p.Cys2390Arg) rs397515847
NM_000138.4(FBN1):c.7217_7226delinsTACAGA
NM_000138.4(FBN1):c.7453+1G>T rs397515851
NM_000138.4(FBN1):c.7497_7498del (p.Cys2500_Val2501insTer) rs397515852
NM_000138.4(FBN1):c.7498T>A (p.Cys2500Ser) rs363810
NM_000138.4(FBN1):c.7580A>C (p.Glu2527Ala) rs397515853
NM_000138.4(FBN1):c.7955G>A (p.Cys2652Tyr) rs397515859
NM_000138.4(FBN1):c.8473_8475del (p.Gly2825del) rs727504454
NM_000138.4(FBN1):c.8483C>G (p.Ser2828Ter) rs397515864
NM_000138.4(FBN1):c.8600A>C (p.Gln2867Pro) rs397515865
NM_000138.4(FBN1):c.8605_8606del (p.Leu2869fs) rs397515866
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000157.4(GBA):c.1279G>T (p.Glu427Ter) rs149171124
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331
NM_000169.2(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.2(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.2(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.2(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.2(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.2(GLA):c.802-3_804delinsGGCAACTTT rs727504773
NM_000170.2(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705
NM_000179.2(MSH6):c.24C>G
NM_000179.2(MSH6):c.3173-1G>C rs397515875
NM_000179.2(MSH6):c.3923_3924insATCT
NM_000179.2(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
NM_000179.2(MSH6):c.3952A>T
NM_000192.3(TBX5):c.710G>A (p.Arg237Gln) rs104894378
NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter) rs767128094
NM_000213.5(ITGB4):c.2783-2A>G rs758551913
NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458
NM_000218.2(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.2(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.2(KCNQ1):c.1522G>T (p.Glu508Ter) rs794728530
NM_000218.2(KCNQ1):c.1591-1G>A
NM_000218.2(KCNQ1):c.1685+2T>G
NM_000218.2(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815
NM_000218.2(KCNQ1):c.403del (p.Val135fs) rs794728565
NM_000218.2(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.2(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.2(KCNQ1):c.585del (p.Lys196fs) rs397508120
NM_000218.2(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.2(KCNQ1):c.683+1G>A
NM_000218.2(KCNQ1):c.826del (p.Ser276fs) rs786204778
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000238.3(KCNH2):c.1474C>T (p.His492Tyr) rs199472910
NM_000238.3(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.3(KCNH2):c.1983delC
NM_000238.3(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000246.3(CIITA):c.338dupG
NM_000251.2(MSH2):c.1760-1G>A rs587779110
NM_000251.2:c.(?_1277)_(2634_?)del
NM_000256.3(MYBPC3):c.(?_26)_(1090_?)del
NM_000256.3(MYBPC3):c.1343T>C (p.Phe448Ser) rs727504279
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655
NM_000256.3(MYBPC3):c.2528_2536del (p.Glu843_Arg845del) rs397515972
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn) rs727503185
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.343G>T (p.Gly115Ter) rs727503220
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3605G>A (p.Cys1202Tyr) rs727503170
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs) rs397516038
NM_000256.3(MYBPC3):c.3764_3766CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp) rs727504380
NM_000256.3(MYBPC3):c.505+5G>C rs727503219
NM_000256.3(MYBPC3):c.622C>T
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.773-2A>T
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.927-10C>A rs201078659
NM_000257.4(MYH7):c.1003G>T (p.Ala335Ser) rs727503272
NM_000257.4(MYH7):c.1012G>A (p.Val338Met) rs727503271
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1207C>G (p.Arg403Gly) rs3218714
NM_000257.4(MYH7):c.1220G>T (p.Gly407Val) rs397516095
NM_000257.4(MYH7):c.1273G>A (p.Gly425Arg) rs397516097
NM_000257.4(MYH7):c.1283C>T (p.Ala428Val) rs727503266
NM_000257.4(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser) rs727504236
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.1477_1478del (p.Met493fs) rs727504336
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911
NM_000257.4(MYH7):c.1549C>A (p.Leu517Met) rs727504237
NM_000257.4(MYH7):c.1584G>A (p.Met528Ile) rs727503265
NM_000257.4(MYH7):c.1608G>T (p.Glu536Asp) rs397516115
NM_000257.4(MYH7):c.1700G>A (p.Arg567His) rs377491278
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626
NM_000257.4(MYH7):c.1757T>C (p.Val586Ala) rs397516121
NM_000257.4(MYH7):c.1791C>A (p.Asn597Lys) rs397516122
NM_000257.4(MYH7):c.1798C>T (p.Pro600Ser) rs397516123
NM_000257.4(MYH7):c.1826A>G (p.Tyr609Cys) rs727504925
NM_000257.4(MYH7):c.1922G>C (p.Gly641Ala) rs1555338080
NM_000257.4(MYH7):c.1969A>C (p.Lys657Gln) rs727503264
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2069T>C (p.Met690Thr) rs397516128
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) rs397516132
NM_000257.4(MYH7):c.2123G>C (p.Gly708Ala) rs397516134
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2347C>G (p.Arg783Gly) rs727503258
NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro) rs397516142
NM_000257.4(MYH7):c.2471T>C (p.Val824Ala) rs727503255
NM_000257.4(MYH7):c.2502C>G (p.Phe834Leu) rs397516152
NM_000257.4(MYH7):c.2513C>A (p.Pro838Gln) rs397516153
NM_000257.4(MYH7):c.2527G>A (p.Ala843Thr) rs727505132
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly) rs727504311
NM_000257.4(MYH7):c.2546T>C (p.Met849Thr) rs397516156
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr) rs397516157
NM_000257.4(MYH7):c.2572C>G (p.Arg858Gly) rs2754158
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu) rs397516160
NM_000257.4(MYH7):c.2649_2651GAA[1] (p.Lys884del) rs193922387
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) rs727503254
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.2744T>C (p.Leu915Pro) rs397516166
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.4(MYH7):c.2785_2787GAG[2] (p.Glu931del) rs397516172
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033
NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys) rs727504274
NM_000257.4(MYH7):c.343T>C (p.Tyr115His) rs397516183
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) rs397516190
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) rs727503249
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) rs397516212
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.457del (p.His153fs) rs397516224
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225
NM_000257.4(MYH7):c.505A>G (p.Arg169Gly) rs727504267
NM_000257.4(MYH7):c.506G>A (p.Arg169Lys) rs397516237
NM_000257.4(MYH7):c.507A>T (p.Arg169Ser) rs397516238
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.5380C>A (p.Gln1794Lys) rs397516247
NM_000257.4(MYH7):c.5717C>G (p.Ala1906Gly) rs397516252
NM_000257.4(MYH7):c.5726G>C (p.Arg1909Pro) rs397516253
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu) rs727503277
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000257.4(MYH7):c.739T>C (p.Phe247Leu) rs727503276
NM_000257.4(MYH7):c.743T>C (p.Ile248Thr) rs727504280
NM_000257.4(MYH7):c.799C>G (p.Leu267Val) rs727504409
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000258.2(MYL3):c.281G>A (p.Arg94His) rs199474703
NM_000258.2(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511
NM_000260.4(MYO7A):c.132+5G>A rs397516284
NM_000260.4(MYO7A):c.1370C>T (p.Ala457Val) rs111033286
NM_000260.4(MYO7A):c.1690+1G>A rs111033389
NM_000260.4(MYO7A):c.1833_1838dup (p.Gln613_Phe614insHisSer) rs397516290
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs) rs111033510
NM_000260.4(MYO7A):c.1A>G (p.Met1Val) rs797044518
NM_000260.4(MYO7A):c.2094+1G>C rs111033404
NM_000260.4(MYO7A):c.2187+1G>A rs111033290
NM_000260.4(MYO7A):c.284A>T (p.Tyr95Phe) rs797044489
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) rs781988557
NM_000260.4(MYO7A):c.287C>T (p.Thr96Met) rs781811444
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.314T>G (p.Val105Gly) rs876657654
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298
NM_000260.4(MYO7A):c.3532del (p.Gln1178fs) rs111033239
NM_000260.4(MYO7A):c.3533A>C (p.Gln1178Pro) rs111033482
NM_000260.4(MYO7A):c.3541_3542CA[3] (p.Asn1182fs) rs111033390
NM_000260.4(MYO7A):c.3572G>A (p.Gly1191Asp) rs397516301
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys) rs373169422
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181
NM_000260.4(MYO7A):c.4065del (p.His1355fs) rs111033202
NM_000260.4(MYO7A):c.4411T>C (p.Ser1471Pro) rs397516310
NM_000260.4(MYO7A):c.4442-2A>C rs111033337
NM_000260.4(MYO7A):c.458G>A (p.Cys153Tyr) rs397516312
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) rs111033276
NM_000260.4(MYO7A):c.5327-11A>G rs397516316
NM_000260.4(MYO7A):c.5464A>C (p.Thr1822Pro) rs727504541
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323
NM_000260.4(MYO7A):c.587T>C (p.Leu196Pro) rs397516324
NM_000260.4(MYO7A):c.5945G>A (p.Gly1982Glu) rs111033250
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532
NM_000267.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_000270.3(PNP):c.286-18G>A rs1026474882
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020
NM_000277.3(PAH):c.842+5G>A rs62516146
NM_000283.3(PDE6B):c.299G>A (p.Arg100His) rs555600300
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000307.5(POU3F4):c.1086_*3del (p.Ter362TrpextTer?) rs727503377
NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter) rs111033343
NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr) rs397516335
NM_000307.5(POU3F4):c.968G>A (p.Arg323His) rs727505246
NM_000314.7(PTEN):c.518G>A (p.Arg173His) rs121913294
NM_000314.7(PTEN):c.522T>G (p.Tyr174Ter) rs786201867
NM_000314.7(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000320.3(QDPR):c.472C>T (p.His158Tyr) rs750201480
NM_000335.4(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.4(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.4(SCN5A):c.255del (p.Phe86fs) rs727503411
NM_000335.4(SCN5A):c.3282G>A (p.Trp1094Ter) rs759924541
NM_000335.4(SCN5A):c.3570G>A (p.Trp1190Ter)
NM_000335.4(SCN5A):c.393-1C>T rs759235726
NM_000335.4(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220
NM_000335.4(SCN5A):c.3960+1G>A rs483353016
NM_000335.4(SCN5A):c.4242+1G>C rs794728879
NM_000335.4(SCN5A):c.483-1G>A rs794728846
NM_000335.4(SCN5A):c.704-2A>G rs1553705586
NM_000337.5(SGCD):c.294+1G>A rs727503422
NM_000337.5(SGCD):c.390del (p.Ala131fs) rs397517921
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000363.5(TNNI3):c.12-1G>T rs397516340
NM_000363.5(TNNI3):c.1A>G (p.Met1Val) rs397516341
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347
NM_000363.5(TNNI3):c.431T>C (p.Leu144Pro) rs121917760
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.5(TNNI3):c.464T>C (p.Met155Thr) rs397516352
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro) rs397516354
NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp) rs727503504
NM_000363.5(TNNI3):c.550G>A (p.Glu184Lys) rs397516356
NM_000363.5(TNNI3):c.568G>T (p.Asp190Tyr) rs727503500
NM_000363.5(TNNI3):c.575G>C (p.Arg192Pro) rs104894729
NM_000363.5(TNNI3):c.575G>T (p.Arg192Leu) rs104894729
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727
NM_000363.5(TNNI3):c.602T>C (p.Met201Thr) rs727504365
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000364.4(TNNT2):c.274G>A (p.Gly92Arg) rs727504255
NM_000364.4(TNNT2):c.287A>C (p.Asp96Ala) rs397516455
NM_000364.4(TNNT2):c.294T>G (p.Asp98Glu) rs397516454
NM_000364.4(TNNT2):c.310C>T (p.Arg104Cys) rs727503513
NM_000364.4(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_000364.4(TNNT2):c.316_318del (p.Glu106del) rs727504277
NM_000364.4(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_000364.4(TNNT2):c.354_355delinsGT (p.His119Tyr) rs876658027
NM_000364.4(TNNT2):c.360T>G (p.Phe120Leu) rs727504331
NM_000364.4(TNNT2):c.382G>A (p.Glu128Lys) rs397516461
NM_000364.4(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_000364.4(TNNT2):c.422G>C (p.Arg141Pro) rs397516464
NM_000364.4(TNNT2):c.430C>G (p.Arg144Gly) rs45525839
NM_000364.4(TNNT2):c.460C>T (p.Arg154Trp) rs483352832
NM_000364.4(TNNT2):c.544G>T (p.Ala182Ser) rs730881097
NM_000364.4(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_000364.4(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_000364.4(TNNT2):c.828C>A (p.Asn276Lys) rs376923877
NM_000364.4(TNNT2):c.842+1G>T rs111377893
NM_000364.4(TNNT2):c.882G>A (p.Trp294Ter) rs730881116
NM_000369.2(TSHR):c.545+2_545+3delTG rs786204790
NM_000371.3(TTR):c.262A>T (p.Ile88Leu) rs121918085
NM_000371.3(TTR):c.421_423GTC[1] (p.Val142del) rs121918096
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000379.4(XDH):c.1686+1G>C rs148412639
NM_000379.4(XDH):c.3440C>G (p.Ser1147Ter) rs1553411468
NM_000384.3(APOB):c.631C>T (p.Gln211Ter) rs143301836
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys) rs146377316
NM_000400.3(ERCC2):c.1479+2dupT rs776705174
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443
NM_000426.3(LAMA2):c.5563-2A>G rs786204779
NM_000432.3(MYL2):c.193G>A (p.Glu65Lys) rs397516398
NM_000432.3(MYL2):c.239C>A (p.Thr80Asn) rs587782965
NM_000432.3(MYL2):c.260G>C (p.Gly87Ala) rs397516399
NM_000432.3(MYL2):c.482A>G (p.His161Arg) rs727503296
NM_000432.3(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000432.3(MYL2):c.485G>A (p.Gly162Glu) rs397516406
NM_000432.3(MYL2):c.488A>C (p.Glu163Ala) rs397516407
NM_000432.3(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000432.3(MYL2):c.80A>G (p.Gln27Arg) rs397516408
NM_000441.1(SLC26A4):c.(?_305)_(415_?)dup (p.(?))
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.2(SLC26A4):c.-4+5G>A rs727503425
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro) rs1293971731
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316
NM_000441.2(SLC26A4):c.1548_1549insC (p.Ser517fs) rs111033317
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257
NM_000441.2(SLC26A4):c.1707+6T>C rs727505230
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) rs111033200
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624
NM_000441.2(SLC26A4):c.397_398delinsA (p.Ser133fs) rs111033400
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1766+5G>T rs121908796
NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.3(CFTR):c.2909G>A (p.Gly970Asp) rs386134230
NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000494.4(COL17A1):c.2435-6_2440del rs797045084
NM_000494.4(COL17A1):c.3821_3829delinsC (p.Gly1274fs) rs1210666598
NM_000495.5(COL4A5):c.2537G>A (p.Gly846Glu) rs1569497690
NM_000501.3(ELN):c.1153del (p.Ala385Profs) rs727503031
NM_000501.4(ELN):c.1733del (p.Pro578fs) rs727503782
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter) rs727503034
NM_000501.4(ELN):c.741del (p.Thr248fs) rs727503026
NM_000503.6(EYA1):c.1579T>A (p.Tyr527Asn) rs397517918
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1359-5C>G rs531005522
NM_000527.4(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1735G>A (p.Asp579Asn) rs875989929
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.241C>T (p.Arg81Cys) rs730882078
NM_000527.4(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.4(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.4(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.4(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.4(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.4(LDLR):c.938G>A (p.Cys313Tyr) rs875989911
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.538-2A>G rs758304323
NM_000535.7(PMS2):c.903G>A (p.Lys301=) rs267608153
NM_000540.2(RYR1):c.1201C>T (p.Arg401Cys) rs193922764
NM_000540.2(RYR1):c.14524G>A rs193922879
NM_000540.2(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145
NM_000540.2(RYR1):c.2290C>T
NM_000540.2(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816
NM_000540.2(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479
NM_000546.5(TP53):c.1010G>C (p.Arg337Pro) rs121912664
NM_000546.5(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.5(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.5(TP53):c.672+2T>A rs1555525703
NM_000546.5(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.5(TP53):c.77_80delinsAAGAACGT (p.Leu26fs) rs397516438
NM_000546.5(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.5(TP53):c.920-2A>G rs397516439
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) rs45517201
NM_000551.3(VHL):c.-75_-55del rs727503744
NM_000551.3(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.3(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.3(VHL):c.463+2T>G rs5030814
NM_000552.4(VWF):c.3179del (p.Cys1060fs) rs762105711
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058
NM_000709.4(BCKDHA):c.511del (p.Leu171fs) rs762084007
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter) rs777947329
NM_001004334.3(GPR179):c.2706_2707dup (p.Pro903Hisfs) rs1200683561
NM_001004334.3(GPR179):c.799_803delCAGGTinsTGATCTAC (p.Gln267_Leu602delinsTer) rs886043488
NM_001006657.2(WDR35):c.1922T>G (p.Leu641Ter) rs199952377
NM_001015880.2(PAPSS2):c.1657_1661ATTCC[1] (p.Phe555fs) rs797045099
NM_001015880.2(PAPSS2):c.222C>G (p.Tyr74Ter) rs374379931
NM_001017361.3(KHDC3L):c.334C>T (p.Gln112Ter) rs745776920
NM_001018005.2(TPM1):c.163G>A (p.Asp55Asn) rs397516363
NM_001018005.2(TPM1):c.23T>G (p.Met8Arg) rs397516364
NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr) rs199476310
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.2(TPM1):c.341A>G (p.Glu114Gly) rs397516370
NM_001018005.2(TPM1):c.416A>T (p.Glu139Val) rs727504389
NM_001018005.2(TPM1):c.423G>C (p.Met141Ile) rs397516371
NM_001018005.2(TPM1):c.457C>G (p.His153Asp) rs397516372
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) rs199476311
NM_001018005.2(TPM1):c.496G>A (p.Ala166Thr) rs876657662
NM_001018005.2(TPM1):c.559G>C (p.Glu187Gln) rs727504264
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys) rs397516486
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn) rs727503518
NM_001035.2(RYR2):c.(?_169)_(273_?)del (p.(?))
NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln) rs397516508
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) rs794728753
NM_001038.6(SCNN1A):c.942del (p.Asn315fs) rs1555112332
NM_001039213.4(CEACAM16):c.1186A>G (p.Thr396Ala) rs755154488
NM_001039876.3(SYNE4):c.559C>T (p.Arg187Ter) rs750797779
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615
NM_001041.4(SI):c.2159+2T>G rs1553775177
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001079802.1(FKTN):c.528dupT
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874
NM_001079878.2(CNGA3):c.101+1G>A rs147118493
NM_001080476.2(GRXCR1):c.784C>T (p.Arg262Ter) rs761349153
NM_001081.3(CUBN):c.4460_4464delGATTC
NM_001081.3(CUBN):c.5909_5912TACC[1] (p.Thr1972fs) rs765301342
NM_001089.3(ABCA3):c.1609_1611+4delinsCCA rs876657633
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001127671.2(LIFR):c.1578del (p.Lys526fs) rs1554020702
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) rs199775294
NM_001128425.1(MUTYH):c.820C>T (p.Arg274Trp) rs769237459
NM_001128425.1(MUTYH):c.859del (p.Ala287fs) rs761468459
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) rs1553416039
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys) rs727504859
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001142800.2(EYS):c.8678del (p.Asn2893fs) rs1554163929
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991
NM_001145308.4(LRTOMT):c.358+4A>C rs545947177
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter) rs1342429887
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) rs201912053
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195291.2(SERPINB6):c.691G>T (p.Glu231Ter) rs1201327476
NM_001195794.1(CLRN1):c.127G>A (p.Gly43Arg) rs111033434
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001199397.2(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197
NM_001201484.1(PIGO):c.1485dupT
NM_001232.3(CASQ2):c.578_580delinsAC (p.Ile193fs) rs397516643
NM_001232.3(CASQ2):c.940-1G>T rs876657635
NM_001256047.1(C19orf12):c.172G>A (p.Gly58Arg) rs515726205
NM_001256850.1(TTN):c.81898+2T>A rs397517735
NM_001256850.1(TTN):c.92569+1G>C rs727505319
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs) rs727503537
NM_001267550.2(TTN):c.10241_10247del (p.Tyr3414fs) rs876657663
NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter) rs397517787
NM_001267550.2(TTN):c.107198_107223+4del rs1553479603
NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter) rs397517830
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) rs727503658
NM_001267550.2(TTN):c.13058del (p.Pro4353fs) rs1408345511
NM_001267550.2(TTN):c.13614dup (p.Asn4539Ter) rs876657673
NM_001267550.2(TTN):c.15496+1G>A rs397517481
NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter) rs727504843
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) rs267607155
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.30484_30493del (p.Thr10162fs) rs727504452
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter) rs727503697
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.41610del (p.Val13871fs) rs397517565
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) rs1553742630
NM_001267550.2(TTN):c.42968dup (p.Pro14324fs) rs1553741321
NM_001267550.2(TTN):c.43544dup (p.Phe14516fs) rs752856716
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter) rs727504499
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs) rs397517576
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580
NM_001267550.2(TTN):c.45895+1G>A rs727504589
NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs) rs397517584
NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter) rs397517586
NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter) rs397517587
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter) rs397517589
NM_001267550.2(TTN):c.48761-1G>C rs876657665
NM_001267550.2(TTN):c.49296_49315del (p.Val16433fs) rs727504825
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter) rs397517601
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.51870del (p.Glu17291fs) rs1553691320
NM_001267550.2(TTN):c.52222_52225AAGA[1] (p.Lys17409fs) rs727503615
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) rs794729324
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter) rs397517620
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.55800G>A (p.Trp18600Ter) rs727503598
NM_001267550.2(TTN):c.56647+1G>A rs397517624
NM_001267550.2(TTN):c.56732dup (p.Asp18911fs) rs397517626
NM_001267550.2(TTN):c.57215del (p.Gly19072fs) rs397517628
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.57995del (p.His19332fs) rs397517633
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter) rs974671846
NM_001267550.2(TTN):c.60399del (p.Ser20134fs) rs727504466
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.64094-2A>G rs876657667
NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter)
NM_001267550.2(TTN):c.64397-1G>C rs876657668
NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter) rs397517664
NM_001267550.2(TTN):c.6678_6681del (p.Lys2227fs) rs397517698
NM_001267550.2(TTN):c.68195C>A (p.Ser22732Ter) rs727505352
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.69458_69461dup (p.Asn23154fs) rs397517679
NM_001267550.2(TTN):c.70275del (p.Ser23425fs) rs727504655
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter) rs727503567
NM_001267550.2(TTN):c.71634del (p.Ala23879fs) rs727503565
NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer) rs794729338
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531
NM_001267550.2(TTN):c.72832dup (p.Thr24278fs) rs876657669
NM_001267550.2(TTN):c.73387del (p.Ala24463fs) rs1553607425
NM_001267550.2(TTN):c.73827del (p.Glu24609fs) rs397517695
NM_001267550.2(TTN):c.73845del (p.Glu24615fs) rs397517696
NM_001267550.2(TTN):c.75443del (p.Gly25148fs) rs1553603456
NM_001267550.2(TTN):c.77421dup (p.Ser25808fs) rs730880343
NM_001267550.2(TTN):c.80494G>T (p.Glu26832Ter) rs780512337
NM_001267550.2(TTN):c.80997_81012del (p.Ala26998_Tyr26999insTer) rs727503559
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81521del (p.Pro27174fs) rs1553577362
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter) rs397517721
NM_001267550.2(TTN):c.81878_81879del (p.Phe27293fs) rs727504660
NM_001267550.2(TTN):c.81886del (p.Glu27296fs) rs727503557
NM_001267550.2(TTN):c.82773G>A (p.Trp27591Ter) rs727505288
NM_001267550.2(TTN):c.8305_8306TG[1] (p.Ala2770fs) rs869312037
NM_001267550.2(TTN):c.83407del (p.Val27803fs) rs727504782
NM_001267550.2(TTN):c.83603del (p.Gly27868fs) rs727505014
NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter) rs876657670
NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter) rs868494032
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.87516del (p.Tyr29173fs) rs727503552
NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter)
NM_001267550.2(TTN):c.89197_89197+2del rs397517741
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter) rs727505224
NM_001267550.2(TTN):c.90587del (p.Lys30196fs) rs397517749
NM_001267550.2(TTN):c.90778dup (p.Tyr30260fs) rs397517750
NM_001267550.2(TTN):c.91341_91343delinsTAAGTGGGTGTGA (p.Leu30447_Arg30448delinsPheLysTrpValTer) rs727505076
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter) rs727504646
NM_001267550.2(TTN):c.91839dup (p.Val30614fs) rs730880365
NM_001267550.2(TTN):c.93897del (p.Phe31299fs) rs397517758
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.94340_94343AGAA[1] (p.Lys31448fs) rs727503546
NM_001267550.2(TTN):c.96268C>T (p.Gln32090Ter) rs876657671
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter) rs727504679
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776
NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter) rs727504550
NM_001267550.2(TTN):c.98989+1G>A rs112240298
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter) rs771511344
NM_001267550.2(TTN):c.99866-1G>A rs876657672
NM_001271208.2(NEB):c.23848-1G>C rs797045098
NM_001277269.1(OTOG):c.(?_3914)-61_(6474_?)+67del
NM_001277269.1(OTOG):c.2489_2490insACTGGACACCCA (p.Tyr830Ter) rs876657656
NM_001277269.1(OTOG):c.2500C>T (p.Gln834Ter) rs554847663
NM_001277269.1(OTOG):c.3493C>T (p.Arg1165Ter) rs772430523
NM_001277269.1(OTOG):c.4693G>T (p.Gly1565Ter) rs897822685
NM_001277269.1(OTOG):c.5020G>T (p.Gly1674Ter) rs1407028917
NM_001277269.1(OTOG):c.535del (p.Val179fs) rs876657657
NM_001277269.1(OTOG):c.5962dupC
NM_001277269.1(OTOG):c.6591G>A (p.Trp2197Ter) rs1193023501
NM_001277269.1(OTOG):c.7389dup (p.Ala2464fs) rs1157646266
NM_001277269.1(OTOG):c.7621+2T>C rs1401870617
NM_001289808.2(CRYAB):c.325-2A>G rs202024436
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile) rs397516686
NM_001347721.2(DYRK1A):c.1010C>T (p.Ser337Phe) rs1555985649
NM_001360.2(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) rs201230446
NM_001369.2(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861
NM_001369.2(DNAH5):c.7468_7488del (p.Trp2490_Leu2496del) rs727502975
NM_001369.2(DNAH5):c.832del (p.Ala278fs) rs727502977
NM_001369.2(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973
NM_001369.2(DNAH5):c.9449del (p.Gly3150fs) rs727504802
NM_001370658.1(BTD):c.-17+1G>A rs1057516440
NM_001399.4(EDA):c.(?_397)-340_(496_?)dup
NM_001399.5(EDA):c.1067C>T (p.Ala356Val) rs876657639
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654
NM_001399.5(EDA):c.164T>A (p.Leu55Gln) rs397516657
NM_001399.5(EDA):c.477A>T (p.Arg159Ser) rs876657640
NM_001399.5(EDA):c.526+5G>T rs397516664
NM_001399.5(EDA):c.607C>T (p.Pro203Ser) rs397516671
NM_001399.5(EDA):c.822G>T (p.Trp274Cys) rs397516675
NM_001399.5(EDA):c.866G>A (p.Arg289His) rs876657641
NM_001399.5(EDA):c.895G>A (p.Gly299Ser) rs397516679
NM_001399.5(EDA):c.902A>G (p.Tyr301Cys) rs397516681
NM_001399.5(EDA):c.911A>C (p.Tyr304Ser) rs876657642
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln) rs1555666715
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001625.4(AK2):c.307C>T (p.Arg103Trp) rs267606648
NM_001735.2(C5):c.4336del (p.Val1446fs) rs1554718962
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.600del (p.Lys201fs) rs727504448
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.735+1G>C rs397516698
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.3055_3056AG[3] (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.523+2T>C rs397516709
NM_001943.5(DSG2):c.941C>A (p.Ser314Ter) rs397516712
NM_002180.2(IGHMBP2):c.729delC
NM_002292.4(LAMB2):c.3109+1G>T rs888830612
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
NM_002294.2(LAMP2):c.(?_929)_(1233_?)del
NM_002294.2(LAMP2):c.128_129dup (p.Ala44fs) rs730880344
NM_002294.2(LAMP2):c.183+1G>A rs727503120
NM_002294.2(LAMP2):c.183T>A (p.Tyr61Ter) rs397516736
NM_002294.2(LAMP2):c.183T>G (p.Tyr61Ter) rs397516736
NM_002294.2(LAMP2):c.191del (p.Val64fs) rs397516738
NM_002294.2(LAMP2):c.217dup (p.Thr73fs) rs397516739
NM_002294.2(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_002294.2(LAMP2):c.864+3_864+6del rs397516751
NM_002294.2(LAMP2):c.865-1G>C rs397516752
NM_002294.2(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.2(LAMP2):c.929-1G>A rs727504262
NM_002294.2(LAMP2):c.999del (p.Glu334fs) rs727504557
NM_002312.3(LIG4):c.879_883del (p.Asn294fs) rs751070095
NM_002317.7(LOX):c.893T>G (p.Met298Arg) rs876657852
NM_002337.4(LRPAP1):c.181C>T (p.Gln61Ter) rs773243225
NM_002389.4(CD46):c.286+2T>G rs769742294
NM_002485.4(NBN):c.127C>T (p.Arg43Ter) rs200287925
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002755.3(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.3(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.3(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_002755.3(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.3(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.3(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002834.4(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.4(PTPN11):c.166A>G (p.Ile56Val) rs397507504
NM_002834.4(PTPN11):c.182A>C (p.Asp61Ala) rs121918461
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.235C>A (p.Gln79Lys) rs397516803
NM_002834.4(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002834.4(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.4(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.4(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002880.3(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.3(RAF1):c.1423T>C (p.Phe475Leu) rs730881003
NM_002880.3(RAF1):c.1457A>G (p.Asp486Gly) rs397516815
NM_002880.3(RAF1):c.285C>G (p.Cys95Trp) rs727503384
NM_002880.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.3(RAF1):c.768G>C (p.Arg256Ser) rs397516826
NM_002880.3(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002880.3(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_002880.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_002977.3(SCN9A):c.4700G>A (p.Trp1567Ter) rs200070962
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.2(SDHB):c.287-1G>C rs397516833
NM_003000.2(SDHB):c.445_446insTATGG (p.Gln149fs) rs1553177688
NM_003000.2(SDHB):c.575G>C (p.Cys192Ser) rs397516835
NM_003000.2(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003001.3(SDHC):c.148C>T (p.Arg50Cys) rs587778661
NM_003001.3(SDHC):c.21-3_22del rs1553261757
NM_003002.3(SDHD):c.*(?_286)_*(387_?)del
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter) rs397516840
NM_003242.6(TGFBR2):c.1524+1G>A rs727503475
NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del) rs876658120
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125
NM_003322.6(TULP1):c.855dup (p.Val286fs) rs1554125752
NM_003673.3(TCAP):c.157C>T (p.Gln53Ter) rs104894655
NM_003829.4(MPDZ):c.4171C>T
NM_003829.4(MPDZ):c.4906C>T (p.Arg1636Ter) rs797045095
NM_003880.3(CCN6):c.738_739GT[1] (p.Cys247fs) rs727503755
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.101T>G (p.Met34Arg) rs35887622
NM_004004.6(GJB2):c.109G>T (p.Val37Phe) rs72474224
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu) rs111033296
NM_004004.6(GJB2):c.176G>A (p.Gly59Asp) rs104894404
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004035.7(ACOX1):c.1851del (p.Gly618fs) rs797045080
NM_004086.3(COCH):c.260G>C (p.Gly87Ala) rs1555310861
NM_004100.5(EYA4):c.1739-1G>A rs797045088
NM_004100.5(EYA4):c.371-2A>C rs876657644
NM_004130.3(GYG1):c.7+1G>A
NM_004183.4(BEST1):c.1512_1513TG[1] (p.Val505fs) rs752521456
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046
NM_004260.3(RECQL4):c.1089C>G
NM_004281.3(BAG3):c.100_107del (p.Thr34fs) rs727505283
NM_004281.3(BAG3):c.1067del (p.Pro356fs) rs727505109
NM_004281.3(BAG3):c.367C>T (p.Arg123Ter) rs387906875
NM_004281.3(BAG3):c.72del (p.Gly25fs) rs727502897
NM_004281.3(BAG3):c.730C>T (p.Gln244Ter) rs876657634
NM_004281.3(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg) rs121913353
NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1409C>G (p.Thr470Arg) rs397516891
NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu) rs397516892
NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln) rs397507474
NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn) rs727504375
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1460T>G (p.Val487Gly) rs397516893
NM_004333.6(BRAF):c.1501G>C (p.Glu501Gln) rs180177038
NM_004333.6(BRAF):c.1502A>T (p.Glu501Val) rs180177039
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu) rs397507480
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) rs121913370
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1798G>A (p.Val600Met) rs121913378
NM_004333.6(BRAF):c.1798G>T (p.Val600Leu) rs121913378
NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu) rs397516897
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004387.4(NKX2-5):c.335-3C>G rs876657934
NM_004387.4(NKX2-5):c.400_402delinsAT (p.Arg134fs) rs397516908
NM_004403.2(GSDME):c.(?_863)-60_(1257_?)+61del
NM_004407.4(DMP1):c.979C>T (p.Gln327Ter) rs899142959
NM_004415.4(DSP):c.1141-2A>T rs794728111
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1615C>T (p.Gln539Ter) rs727504498
NM_004415.4(DSP):c.1650G>A (p.Trp550Ter) rs397516919
NM_004415.4(DSP):c.1751del (p.Glu584fs) rs727505077
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.206_207AC[3] (p.Ile71fs) rs727502993
NM_004415.4(DSP):c.2130+1G>A rs727505115
NM_004415.4(DSP):c.214C>T (p.Gln72Ter) rs397516923
NM_004415.4(DSP):c.226C>T (p.Gln76Ter) rs1554105614
NM_004415.4(DSP):c.2436+2T>C rs774514264
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.273del (p.Glu92fs) rs794728136
NM_004415.4(DSP):c.2848dup (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.2920del (p.Thr974fs) rs727505260
NM_004415.4(DSP):c.2959T>C (p.Ser987Pro) rs397516929
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs) rs397516932
NM_004415.4(DSP):c.3507C>A (p.Tyr1169Ter) rs148894066
NM_004415.4(DSP):c.3526del (p.Val1176fs) rs727505271
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) rs727503001
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter) rs397516933
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.4824dup (p.Ala1609fs) rs727503003
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.491_492delinsAGCTCGAGTCCCTCG (p.Ala164fs) rs727504738
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.4(DSP):c.523C>T (p.Gln175Ter)
NM_004415.4(DSP):c.534_535insA (p.Gly179fs) rs397516945
NM_004415.4(DSP):c.5376_5377AG[3] (p.Ala1794fs) rs727502994
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter) rs397516946
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.712dup (p.Ile238fs) rs397516956
NM_004415.4(DSP):c.867C>A (p.Cys289Ter) rs397516973
NM_004415.4(DSP):c.919C>T (p.Gln307Ter) rs1238227166
NM_004415.4(DSP):c.939+1G>A rs727504443
NM_004448.3(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup) rs397516975
NM_004448.3(ERBB2):c.2314_2325dup (p.Tyr772_Ala775dup) rs397516977
NM_004448.3(ERBB2):c.2320del (p.Met774fs) rs397516978
NM_004448.3(ERBB2):c.2324_2325insCTCCGTGATGGC (p.Gly776_Val777insSerValMetAla) rs397516976
NM_004448.3(ERBB2):c.2325_2326insTCCGTGATGGCT (p.Gly776_Val777insSerValMetAla) rs1555618025
NM_004448.3(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys) rs397516979
NM_004448.3(ERBB2):c.2326_2327insTTT (p.Gly776delinsValCys) rs397516979
NM_004448.3(ERBB2):c.2326delinsTTAT (p.Gly776delinsLeuCys) rs397516980
NM_004448.3(ERBB2):c.2332_2340dup (p.Gly778_Pro780dup) rs397516982
NM_004452.3(ESRRB):c.(?_1501)_(1527_?)del (p.?)
NM_004452.3(ESRRB):c.1023_1024TG[1] (p.Val342fs) rs876657643
NM_004452.3(ESRRB):c.1161G>A (p.Trp387Ter) rs727503041
NM_004452.3(ESRRB):c.1205_1209del (p.Thr402fs) rs727504577
NM_004452.3(ESRRB):c.745C>T (p.Arg249Ter) rs202023138
NM_004452.3(ESRRB):c.948dup (p.Leu317fs) rs1555344820
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs) rs398122797
NM_004572.3(PKP2):c.(?_1689)_(1806_?)del
NM_004572.3(PKP2):c.1034+1G>T rs869025496
NM_004572.3(PKP2):c.1034+1del rs1555148011
NM_004572.3(PKP2):c.1035-1G>A rs1555147210
NM_004572.3(PKP2):c.1170+2T>A rs397516987
NM_004572.3(PKP2):c.1271T>C (p.Phe424Ser) rs397516990
NM_004572.3(PKP2):c.1301dup (p.Ala434_Glu435insTer) rs876657659
NM_004572.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs) rs397516992
NM_004572.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer) rs397516993
NM_004572.3(PKP2):c.1378+1G>C rs397516994
NM_004572.3(PKP2):c.14del (p.Gly5fs) rs397516996
NM_004572.3(PKP2):c.1613G>A (p.Trp538Ter) rs193922672
NM_004572.3(PKP2):c.1614G>A (p.Trp538Ter) rs397517001
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_004572.3(PKP2):c.1709del (p.Ala570fs) rs397517005
NM_004572.3(PKP2):c.1759del (p.Val587fs) rs397517008
NM_004572.3(PKP2):c.1760del (p.Val587fs) rs397517009
NM_004572.3(PKP2):c.1821dup (p.Val608fs) rs397517010
NM_004572.3(PKP2):c.1840del (p.Leu614fs) rs1555142994
NM_004572.3(PKP2):c.1952_1955dup (p.Ser652fs) rs397517013
NM_004572.3(PKP2):c.2119C>T (p.Gln707Ter) rs397517017
NM_004572.3(PKP2):c.2334_2338delinsCAGT (p.Pro779fs) rs397517022
NM_004572.3(PKP2):c.2489+1G>T rs111517471
NM_004572.3(PKP2):c.2509del (p.Ser837fs) rs727504432
NM_004572.3(PKP2):c.2551del (p.Thr851fs) rs727504786
NM_004572.3(PKP2):c.269_272del (p.Leu90fs) rs397517025
NM_004572.3(PKP2):c.337-2A>T rs786204389
NM_004572.3(PKP2):c.533dup (p.His179fs) rs769220833
NM_004572.3(PKP2):c.654_655delCA
NM_004572.3(PKP2):c.772A>T (p.Lys258Ter) rs727504430
NM_004572.3(PKP2):c.951_983delinsAC (p.His318fs) rs397517030
NM_004572.3(PKP2):c.968_971delinsGCT (p.Gln323fs) rs1555148035
NM_004572.3(PKP2):c.968_975dup (p.Ala326fs) rs1555148032
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494
NM_004700.4(KCNQ4):c.1667_1671dup (p.Val558fs) rs1553168601
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His) rs121908611
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) rs727503108
NM_004985.5(KRAS):c.211T>G (p.Tyr71Asp) rs387907205
NM_004985.5(KRAS):c.290G>A (p.Arg97Lys) rs727503106
NM_004985.5(KRAS):c.39C>A (p.Gly13=) rs397517040
NM_004985.5(KRAS):c.39C>T (p.Gly13=) rs397517040
NM_004985.5(KRAS):c.454G>T (p.Val152Phe) rs397517041
NM_004985.5(KRAS):c.458A>G (p.Asp153Gly) rs104894360
NM_004985.5(KRAS):c.466T>G (p.Phe156Val) rs397517042
NM_004999.4(MYO6):c.1383G>C (p.Glu461Asp) rs727504548
NM_004999.4(MYO6):c.2111dup (p.Tyr705fs) rs397517045
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567
NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter) rs876657653
NM_004999.4(MYO6):c.3207_3212delinsATCCTACATACTTAAAATTTCTT (p.Ala1070fs) rs727505015
NM_004999.4(MYO6):c.535G>T (p.Asp179Tyr) rs1554205683
NM_004999.4(MYO6):c.737A>G (p.His246Arg) rs121912560
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) rs121434322
NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp) rs397517065
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) rs397517071
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr) rs727504379
NM_005188.3(CBL):c.1096-4_1096-1del rs397517077
NM_005188.3(CBL):c.1099C>A (p.Gln367Lys) rs727504504
NM_005188.3(CBL):c.1228-2A>G rs727504426
NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg) rs28929495
NM_005228.5(EGFR):c.2232_2249delinsAAA (p.Glu746_Ala750del) rs397517094
NM_005228.5(EGFR):c.2240_2248del (p.Leu747_Ala750delinsSer) rs397517098
NM_005228.5(EGFR):c.2284-5_2290dup rs397517106
NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) rs397517109
NM_005228.5(EGFR):c.2315_2320dup (p.Val774_Cys775insAlaHis) rs397517114
NM_005228.5(EGFR):c.2317_2322dup (p.His773_Val774dup) rs397517116
NM_005228.5(EGFR):c.2320_2321insGCCACG (p.Val774_Cys775insGlyHis) rs1554350366
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005343.4(HRAS):c.175_176delinsCT (p.Ala59Leu) rs727504747
NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu) rs727503094
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757
NM_005373.2(MPL):c.79+2T>A rs146249964
NM_005422.2(TECTA):c.2719C>T (p.Arg907Ter) rs764424917
NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531
NM_005422.2(TECTA):c.5235delG
NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) rs140236996
NM_005422.2(TECTA):c.5692T>C
NM_005422.2(TECTA):c.6155G>A (p.Cys2052Tyr) rs727503467
NM_005422.2(TECTA):c.6163-2A>T rs876657661
NM_005559.4(LAMA1):c.8062_8068dup (p.Leu2690fs) rs1555643185
NM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs) rs58013325
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769
NM_005633.3(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.3(SOS1):c.1293_1294delinsGA
NM_005633.3(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.3(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.3(SOS1):c.3022T>C (p.Tyr1008His) rs397517163
NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.3(SOS1):c.335C>G (p.Pro112Arg) rs397517166
NM_005633.3(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741
NM_006005.3(WFS1):c.2508G>C (p.Lys836Asn) rs876657675
NM_006214.4(PHYH):c.766_767del (p.Val256fs) rs797045100
NM_006218.4(PIK3CA):c.1359_1373del (p.Glu453_Pro458delinsAsp) rs397517200
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006383.4(CIB2):c.300_309del (p.Glu100fs) rs765741202
NM_006397.2(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971
NM_006846.3(SPINK5):c.817_818del (p.Asn273fs) rs761490126
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196
NM_006941.3(SOX10):c.401T>C (p.Leu134Pro) rs876657660
NM_006941.3(SOX10):c.424T>C (p.Trp142Arg) rs1555939408
NM_007171.3(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.3(BRCA1):c.5074G>C (p.Asp1692His) rs80187739
NM_007294.3(BRCA1):c.5075-1G>A rs1800747
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_012210.3(TRIM32):c.691del (p.Ala231fs) rs747685252
NM_012414.4(RAB3GAP2):c.713-2A>G rs797045103
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs) rs886039902
NM_014000.2(VCL):c.1544-2A>G rs727503738
NM_014000.2(VCL):c.1713del (p.Ala573fs) rs779488376
NM_014000.2(VCL):c.1762C>T (p.Gln588Ter) rs727504381
NM_014000.2(VCL):c.2828_2829del (p.Pro943fs) rs781036800
NM_014000.2(VCL):c.3115C>T (p.Gln1039Ter) rs727503741
NM_014000.2(VCL):c.562C>T (p.Arg188Ter) rs397517244
NM_014000.2(VCL):c.659dup (p.Asn220fs) rs397517245
NM_014000.2(VCL):c.670dup (p.Glu224fs) rs876657674
NM_014080.4(DUOX2):c.3847+2T>C rs199752932
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283
NM_014639.3(TTC37):c.772C>T
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_015272.5(RPGRIP1L):c.2992del (p.Ile998fs) rs767018622
NM_015272.5(RPGRIP1L):c.3297_3298TC[3] (p.Ala1101fs) rs797045104
NM_015340.3(LARS2):c.(?_2533)-70_*(70_?)del
NM_015340.4(LARS2):c.1520C>G (p.Pro507Arg) rs1553635112
NM_015386.3(COG4):c.529C>T (p.Arg177Ter) rs376663459
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter) rs144104577
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter) rs139021548
NM_015909.4(NBAS):c.1987C>T (p.Gln663Ter) rs761330483
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999
NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn) rs28942109
NM_016203.4(PRKAG2):c.1030C>T (p.His344Tyr) rs727504392
NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn) rs28938173
NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln) rs267606978
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu) rs121908991
NM_016203.4(PRKAG2):c.967T>A (p.Phe323Ile) rs397517283
NM_016239.3(MYO15A):c.8183G>A rs184435771
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) rs760980785
NM_016239.4(MYO15A):c.6610C>T (p.Arg2204Cys) rs727503312
NM_016239.4(MYO15A):c.6764+2T>A rs763975867
NM_016239.4(MYO15A):c.6788G>A (p.Gly2263Asp) rs397517285
NM_016239.4(MYO15A):c.6863C>T (p.Ser2288Leu) rs886052676
NM_016239.4(MYO15A):c.6893G>A (p.Arg2298Gln) rs1001523088
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031
NM_016434.3(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_017433.5(MYO3A):c.2263-2A>C rs1554833178
NM_017433.5(MYO3A):c.4545+1G>C rs876657652
NM_017534.6(MYH2):c.3002del (p.Glu1001fs) rs797045096
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017777.3(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017837.3(PIGV):c.1022C>A (p.Ala341Glu) rs139073416
NM_017849.3(TMEM127):c.308del (p.Gly103fs) rs727503490
NM_017890.4(VPS13B):c.2516-2A>G rs1554706114
NM_018062.3(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294
NM_018136.5(ASPM):c.4720C>T (p.Gln1574Ter) rs776034810
NM_018139.2(DNAAF2):c.1555del (p.Glu519fs) rs1555327917
NM_018139.2(DNAAF2):c.727G>T (p.Glu243Ter) rs727504815
NM_018389.4(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018418.5(SPATA7):c.94+2T>C rs786204787
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs) rs797045454
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020549.4(CHAT):c.406G>A (p.Val136Met) rs201479289
NM_020778.4(ALPK3):c.1018C>T (p.Gln340Ter) rs200889953
NM_020778.4(ALPK3):c.4332del (p.Lys1445fs) rs745688425
NM_020778.4(ALPK3):c.4997delA
NM_020812.4(DOCK6):c.4576C>T (p.Arg1526Ter) rs374530179
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter) rs140403642
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419
NM_021971.2(GMPPB):c.859C>T (p.Arg287Trp) rs142908436
NM_022081.5(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022124.6(CDH23):c.1246_1266del (p.Ala416_Glu422del) rs397517305
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp) rs727504455
NM_022124.6(CDH23):c.2701G>A (p.Glu901Lys) rs876657636
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253
NM_022124.6(CDH23):c.6412del (p.Glu2138fs) rs111033473
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472
NM_022124.6(CDH23):c.7921G>C (p.Asp2641His) rs397517354
NM_022437.3(ABCG8):c.965-1G>A rs957176669
NM_022725.3(FANCF):c.690del (p.Gly231fs) rs747622521
NM_023073.3(CPLANE1):c.2278C>T
NM_024022.3(TMPRSS3):c.1025G>A (p.Gly342Glu) rs397517368
NM_024022.3(TMPRSS3):c.1343T>C (p.Met448Thr) rs201018751
NM_024022.3(TMPRSS3):c.310G>A (p.Glu104Lys) rs373058706
NM_024022.3(TMPRSS3):c.647G>A (p.Arg216His) rs137853000
NM_024022.3(TMPRSS3):c.727G>A (p.Gly243Arg) rs372526764
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys) rs752143061
NM_024422.6(DSC2):c.154+1G>A rs397517393
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024582.4(FAT4):c.6700C>T
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024996.5(GFM1):c.54delC
NM_025152.3(NUBPL):c.2T>C (p.Met1Thr) rs567437692
NM_030662.3(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917
NM_031427.4(DNAL1):c.224_230del (p.Ile74_Leu75insTer) rs876657637
NM_032119.4(ADGRV1):c.10229_10231dup (p.Val3410dup) rs397517418
NM_032119.4(ADGRV1):c.12101T>G (p.Phe4034Cys) rs876657647
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924
NM_032208.2(ANTXR1):c.505C>T (p.Arg169Ter) rs397514700
NM_032504.1(UNC80):c.1513C>T (p.Arg505Ter) rs767633598
NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter) rs1060499690
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032861.4(SERAC1):c.21C>A (p.Cys7Ter) rs139301835
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105
NM_033056.4(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_033124.5(CCDC65):c.875_876AT[1] (p.Ile293fs) rs863223325
NM_033337.2(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388
NM_080424.2(SP110):c.877A>T (p.Lys293Ter) rs199845488
NM_080679.2(COL11A2):c.2779C>T (p.Arg927Cys) rs121912947
NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter) rs727503394
NM_130810.4(DNAAF4):c.523del (p.Ile175fs) rs751610886
NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys) rs727503062
NM_133378.4(TTN):c.73246G>T
NM_133378.4(TTN):c.74821C>T
NM_133378.4(TTN):c.97243C>T
NM_133378.4(TTN):c.[68689_68692delAACA;98315delG]
NM_133379.5(TTN):c.1800+1G>A rs397517497
NM_133645.3(MTO1):c.1357G>A (p.Ala453Thr) rs143747297
NM_138691.2(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943
NM_138691.2(TMC1):c.1333C>T (p.Arg445Cys) rs372710475
NM_138691.2(TMC1):c.674C>T rs370088722
NM_138691.2(TMC1):c.741+1G>A
NM_139025.4(ADAMTS13):c.415-1G>A
NM_144612.6(LOXHD1):c.2244+2T>G rs1555681351
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634
NM_144696.6(AXDND1):c.3032-1904C>T rs200482683
NM_144997.7(FLCN):c.446del (p.Gly149fs) rs727504645
NM_144997.7(FLCN):c.553T>C (p.Ser185Pro) rs876657646
NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter) rs137955225
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918
NM_147196.2(TMIE):c.211+3G>C rs397517865
NM_147196.2(TMIE):c.251G>T (p.Arg84Leu) rs397517866
NM_153700.2(STRC):c.3128_3138+5del rs1555447538
NM_153700.2(STRC):c.4171C>G rs376104748
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443
NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter) rs139956283
NM_153704.5(TMEM67):c.514C>T (p.Arg172Ter) rs765468645
NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro) rs397517886
NM_170707.4(LMNA):c.1110C>G (p.Asp370Glu) rs876657649
NM_170707.4(LMNA):c.1111_1125del (p.Met371_Ala375del) rs397517887
NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs) rs397517888
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.1296_1299GCAC[1] (p.His433_Ala434insTer) rs267607577
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.4(LMNA):c.154C>G (p.Leu52Val) rs397517895
NM_170707.4(LMNA):c.1609-1G>A rs111569862
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.356+1G>C rs794728589
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) rs58917027
NM_170707.4(LMNA):c.476del (p.Glu159fs) rs876657650
NM_170707.4(LMNA):c.485T>C (p.Leu162Pro) rs267607594
NM_170707.4(LMNA):c.513+1G>C rs397517904
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906
NM_170707.4(LMNA):c.763del (p.Gln255fs) rs397517908
NM_170707.4(LMNA):c.778_780AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.784G>T (p.Glu262Ter) rs397517909
NM_170707.4(LMNA):c.863C>G (p.Ala288Gly) rs397517911
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val) rs397517925
NM_173591.3(OTOGL):c.1051C>T
NM_173591.3(OTOGL):c.12G>A
NM_173591.3(OTOGL):c.4574-2A>G
NM_173591.3(OTOGL):c.4993_4997delAACTT
NM_173591.3(OTOGL):c.814_815del (p.Met272fs) rs876657658
NM_173591.3:c.825_4834-43del
NM_174917.5(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_176787.5(PIGN):c.548_549+6del rs779636222
NM_176787.5(PIGN):c.674+1G>A rs1555694770
NM_177550.4(SLC13A5):c.680C>T (p.Thr227Met) rs587777577
NM_177924.5(ASAH1):c.648+1G>C rs1411267767
NM_181457.4(PAX3):c.246C>G (p.Cys82Trp) rs777297575
NM_181882.2(PRX):c.2289del (p.Asp765fs) rs797045102
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter) rs770804941
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs) rs797045109
NM_183245.2:c.615+1G>A
NM_194248.2(OTOF):c.5193-1G>A rs111033373
NM_194248.3(OTOF):c.*129del rs727505359
NM_194248.3(OTOF):c.1045+2T>G rs111033341
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586
NM_194248.3(OTOF):c.2370_2371insA (p.Asp791fs) rs111033370
NM_194248.3(OTOF):c.4228-1G>A rs111033342
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349
NM_194248.3(OTOF):c.5407_5409GAG[1] (p.Glu1804del) rs397515607
NM_194248.3(OTOF):c.5575_5576del (p.Lys1859fs) rs111033446
NM_194248.3(OTOF):c.5713-2A>G rs111033455
NM_194248.3(OTOF):c.5925del (p.Leu1976fs) rs111033384
NM_194248.3(OTOF):c.828C>A (p.Cys276Ter) rs111033447
NM_198056.2(SCN5A):c.4246-2A>G
NM_198056.2(SCN5A):c.535C>T
NM_198080.4(MSRB3):c.285-1G>A rs201306709
NM_198253.2(TERT):c.(?_1574)_(1769_?)del
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_206933.2(USH2A):c.1644+10004_1972-12164del
NM_206933.2(USH2A):c.9335_9371+8063del
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.3(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_206933.3(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265
NM_206933.3(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.3(USH2A):c.11231+1G>T rs111033382
NM_206933.3(USH2A):c.1227G>C (p.Trp409Cys) rs397517979
NM_206933.3(USH2A):c.12294+1G>C rs111033526
NM_206933.3(USH2A):c.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.3(USH2A):c.12739G>A (p.Gly4247Arg) rs397517982
NM_206933.3(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.3(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.3(USH2A):c.13313G>A (p.Trp4438Ter) rs111033417
NM_206933.3(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.3(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549
NM_206933.3(USH2A):c.3158-6A>G rs397518010
NM_206933.3(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287
NM_206933.3(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376
NM_206933.3(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.3(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) rs727503723
NM_206933.3(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_206933.3(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263

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.