NM_004415.4(DSP):c.1dup (p.Met1fs)
|
rs17133512
|
0.17362
|
NM_004168.4(SDHA):c.113A>T (p.Asp38Val)
|
rs34635677
|
0.02888
|
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)
|
rs36215895
|
0.00411
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile)
|
rs3734292
|
0.00174
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)
|
rs34239595
|
0.00055
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)
|
rs200625851
|
0.00024
|
NM_005921.2(MAP3K1):c.3857A>T (p.Glu1286Val)
|
rs371578161
|
0.00021
|
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu)
|
rs374497665
|
0.00014
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser)
|
rs199837769
|
0.00013
|
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)
|
rs377571654
|
0.00011
|
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg)
|
rs373629059
|
0.00011
|
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)
|
rs74315511
|
0.00011
|
NM_003673.4(TCAP):c.223G>A (p.Gly75Ser)
|
rs753744791
|
0.00010
|
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)
|
rs776046135
|
0.00009
|
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)
|
rs374615369
|
0.00008
|
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala)
|
rs376612295
|
0.00007
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val)
|
rs727505020
|
0.00006
|
NM_001458.5(FLNC):c.4991C>T (p.Thr1664Met)
|
rs780829334
|
0.00006
|
NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser)
|
rs201063101
|
0.00005
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met)
|
rs121909378
|
0.00004
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn)
|
rs397516211
|
0.00004
|
NM_000432.4(MYL2):c.403-1G>C
|
rs199474813
|
0.00004
|
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly)
|
rs564822776
|
0.00004
|
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser)
|
rs397516450
|
0.00004
|
NM_001276345.2(TNNT2):c.720-7C>T
|
rs376303087
|
0.00004
|
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val)
|
rs201785897
|
0.00004
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)
|
rs371564200
|
0.00003
|
NM_000256.3(MYBPC3):c.927-2A>G
|
rs397516082
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_170707.4(LMNA):c.1699-7T>C
|
rs771074100
|
0.00003
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00002
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)
|
rs397515963
|
0.00002
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn)
|
rs369300885
|
0.00002
|
NM_000256.3(MYBPC3):c.927-9G>A
|
rs397516083
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_001267550.2(TTN):c.7057+1G>A
|
rs763909866
|
0.00002
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000256.3(MYBPC3):c.1549G>T (p.Ala517Ser)
|
rs1565627873
|
0.00001
|
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)
|
rs397516037
|
0.00001
|
NM_000256.3(MYBPC3):c.493G>A (p.Glu165Lys)
|
rs867067602
|
0.00001
|
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu)
|
rs397516160
|
0.00001
|
NM_000335.5(SCN5A):c.1705C>T (p.Arg569Trp)
|
rs199473576
|
0.00001
|
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)
|
rs766209297
|
0.00001
|
NM_001105206.3(LAMA4):c.5206+1G>A
|
rs368035482
|
0.00001
|
NM_001458.5(FLNC):c.2811+4C>T
|
rs146715204
|
0.00001
|
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)
|
rs745993071
|
0.00001
|
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)
|
rs397507541
|
0.00001
|
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)
|
rs397507529
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln)
|
rs185846631
|
0.00001
|
NM_006767.4(LZTR1):c.347C>G (p.Ala116Gly)
|
rs1215353050
|
0.00001
|
NM_006939.4(SOS2):c.643C>T (p.Arg215Trp)
|
rs745812984
|
0.00001
|
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr)
|
rs995403413
|
0.00001
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
NC_000010.11:g.119675031_119678711del
|
|
|
NC_012920.1:m.11778G>A
|
rs199476112
|
|
NC_012920.1:m.14484T>C
|
rs199476104
|
|
NM_000117.3(EMD):c.22del (p.Ser8fs)
|
|
|
NM_000152.5(GAA):c.1336A>G (p.Ile446Val)
|
rs775612060
|
|
NM_000203.5(IDUA):c.1207G>A (p.Ala403Thr)
|
rs1715176840
|
|
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly)
|
rs730880633
|
|
NM_000256.3(MYBPC3):c.1223+1G>T
|
rs730880639
|
|
NM_000256.3(MYBPC3):c.1432_1436delinsGC (p.Ser478_Glu479delinsAla)
|
rs2142861363
|
|
NM_000256.3(MYBPC3):c.1543_1545del (p.Asn515del)
|
rs730880643
|
|
NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro)
|
rs2856655
|
|
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)
|
rs397515982
|
|
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)
|
rs727503172
|
|
NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter)
|
rs367947846
|
|
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)
|
rs3218714
|
|
NM_000257.4(MYH7):c.1614C>A (p.Cys538Ter)
|
rs1892756939
|
|
NM_000257.4(MYH7):c.2163-1G>A
|
rs606231334
|
|
NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu)
|
rs397516153
|
|
NM_000257.4(MYH7):c.2686G>A (p.Asp896Asn)
|
rs606231340
|
|
NM_000257.4(MYH7):c.2704G>A (p.Glu902Lys)
|
rs869130333
|
|
NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys)
|
rs730880759
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys)
|
rs727505026
|
|
NM_000257.4(MYH7):c.3847G>A (p.Glu1283Lys)
|
rs1892375580
|
|
NM_000257.4(MYH7):c.4285_4287del (p.Met1429del)
|
rs1892274161
|
|
NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro)
|
rs1892176969
|
|
NM_000257.4(MYH7):c.571G>A (p.Val191Ile)
|
rs2138682370
|
|
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp)
|
rs199473161
|
|
NM_000335.5(SCN5A):c.3878C>G (p.Ala1293Gly)
|
|
|
NM_000335.5(SCN5A):c.5062G>A (p.Asp1688Asn)
|
rs775538425
|
|
NM_000371.4(TTR):c.233T>A (p.Leu78His)
|
rs121918069
|
|
NM_000432.4(MYL2):c.421G>A (p.Ala141Thr)
|
rs727504559
|
|
NM_001005242.3(PKP2):c.1368dup (p.Gln457fs)
|
rs1393661338
|
|
NM_001005242.3(PKP2):c.1A>G (p.Met1Val)
|
rs794729107
|
|
NM_001005242.3(PKP2):c.2357+1G>T
|
rs111517471
|
|
NM_001005242.3(PKP2):c.365G>A (p.Arg122His)
|
rs201306582
|
|
NM_001018005.2(TPM1):c.839A>C (p.Asp280Ala)
|
rs2036005410
|
|
NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs)
|
rs2150146622
|
|
NM_001035.3(RYR2):c.6202C>T (p.Arg2068Ter)
|
rs1679845277
|
|
NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile)
|
rs794728821
|
|
NM_001035.3(RYR2):c.8659dup (p.Glu2887fs)
|
rs1685193967
|
|
NM_001105206.3(LAMA4):c.945C>G (p.Asn315Lys)
|
|
|
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)
|
rs122458141
|
|
NM_001267550.2(TTN):c.100590C>G (p.Tyr33530Ter)
|
rs1489832770
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001267550.2(TTN):c.2447T>C (p.Phe816Ser)
|
rs2093121464
|
|
NM_001267550.2(TTN):c.28383del (p.Gly9462fs)
|
rs2154295037
|
|
NM_001267550.2(TTN):c.38424del (p.Lys12809fs)
|
rs1553775991
|
|
NM_001267550.2(TTN):c.48638+1del
|
|
|
NM_001267550.2(TTN):c.49621G>T (p.Glu16541Ter)
|
rs2056671421
|
|
NM_001267550.2(TTN):c.52515G>A (p.Trp17505Ter)
|
rs1160660090
|
|
NM_001267550.2(TTN):c.54406_54409del (p.Gln18136fs)
|
|
|
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)
|
|
|
NM_001267550.2(TTN):c.61009G>T (p.Glu20337Ter)
|
rs2050024892
|
|
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)
|
rs794729280
|
|
NM_001267550.2(TTN):c.80762_80765del (p.Lys26921fs)
|
rs2154164725
|
|
NM_001267550.2(TTN):c.86168del (p.Phe28723fs)
|
|
|
NM_001267550.2(TTN):c.87315dup (p.Glu29106fs)
|
rs1702181550
|
|
NM_001267550.2(TTN):c.96464del (p.Val32155fs)
|
rs2154143564
|
|
NM_001267550.2(TTN):c.97472_97473del (p.Ile32491fs)
|
|
|
NM_001267550.2(TTN):c.97560G>A (p.Trp32520Ter)
|
rs1694489284
|
|
NM_001276345.2(TNNT2):c.431G>C (p.Arg144Pro)
|
rs754037135
|
|
NM_001927.4(DES):c.1049G>C (p.Arg350Pro)
|
rs57965306
|
|
NM_001927.4(DES):c.735G>C (p.Glu245Asp)
|
rs267607486
|
|
NM_001943.5(DSG2):c.1332_1354del (p.Ser445_Glu446insTer)
|
rs2073222422
|
|
NM_001943.5(DSG2):c.1385del (p.Asn462fs)
|
|
|
NM_001943.5(DSG2):c.523+1G>T
|
rs553299589
|
|
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)
|
rs727504317
|
|
NM_002755.4(MAP2K1):c.370C>G (p.Pro124Ala)
|
rs1057519732
|
|
NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala)
|
rs121908596
|
|
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)
|
rs397507542
|
|
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
NM_002834.5(PTPN11):c.92C>G (p.Ala31Gly)
|
rs2037994433
|
|
NM_002880.4(RAF1):c.1880G>A (p.Arg627Gln)
|
rs730881006
|
|
NM_002880.4(RAF1):c.188C>T (p.Pro63Leu)
|
|
|
NM_004006.3(DMD):c.4684del (p.Arg1562fs)
|
rs2147473202
|
|
NM_004006.3:c.(6438+1_6439-1)_(6614+1_6615-1)del
|
|
|
NM_004333.6(BRAF):c.1454T>G (p.Leu485Trp)
|
rs397507475
|
|
NM_004333.6(BRAF):c.1475_1477del (p.Pro492del)
|
rs1800500908
|
|
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro)
|
rs869025340
|
|
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile)
|
rs121913375
|
|
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)
|
rs387906660
|
|
NM_004415.4(DSP):c.1379C>T (p.Pro460Leu)
|
rs757300149
|
|
NM_004415.4(DSP):c.1897C>T (p.Gln633Ter)
|
rs1464886350
|
|
NM_004415.4(DSP):c.2124G>T (p.Glu708Asp)
|
rs1759074309
|
|
NM_004415.4(DSP):c.313C>T (p.Arg105Ter)
|
rs1435125402
|
|
NM_004415.4(DSP):c.4579_4582del (p.Asn1526_Lys1527insTer)
|
rs2113694449
|
|
NM_004959.5(NR5A1):c.140A>G (p.Tyr47Cys)
|
rs2131289790
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
NM_004999.4(MYO6):c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT (p.Thr880_Ala883delinsArgAsnTer)
|
|
|
NM_005343.4(HRAS):c.112-59_*6-51del
|
|
|
NM_005633.4(SOS1):c.1289A>G (p.Asp430Gly)
|
rs2124537699
|
|
NM_005633.4(SOS1):c.427A>G (p.Lys143Glu)
|
rs1671228827
|
|
NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr)
|
rs1057519963
|
|
NM_006767.4(LZTR1):c.295G>T (p.Asp99Tyr)
|
|
|
NM_006767.4(LZTR1):c.527C>T (p.Ser176Leu)
|
rs2147962674
|
|
NM_006912.6(RIT1):c.268A>C (p.Met90Leu)
|
rs1557960039
|
|
NM_012250.6(RRAS2):c.560C>G (p.Pro187Arg)
|
|
|
NM_016203.4(PRKAG2):c.1073T>A (p.Phe358Tyr)
|
rs2151014616
|
|
NM_022902.5(SLC30A5):c.1981_1982del (p.His661fs)
|
rs1746589361
|
|
NM_022902.5(SLC30A5):c.832_836del (p.Ile278fs)
|
rs1746359403
|
|
NM_024422.6(DSC2):c.2125+1del
|
rs794728072
|
|
NM_024422.6(DSC2):c.2152del (p.Ala718fs)
|
rs760915248
|
|
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)
|
rs200067011
|
|
NM_144573.4(NEXN):c.633A>T (p.Arg211Ser)
|
rs745502254
|
|
NM_152594.3(SPRED1):c.472C>T (p.Gln158Ter)
|
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_170707.4(LMNA):c.193G>C (p.Glu65Gln)
|
rs1168314722
|
|
NM_170707.4(LMNA):c.409C>G (p.Leu137Val)
|
rs747998566
|
|
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)
|
rs775159300
|
|
NM_182914.3(SYNE2):c.18165T>A (p.Asp6055Glu)
|
rs1567631199
|
|
m.8344A>G
|
rs118192098
|
|