NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln)
|
rs61735828
|
0.00627
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met)
|
rs138393827
|
0.00068
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly)
|
rs143990563
|
0.00064
|
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)
|
rs137964147
|
0.00057
|
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr)
|
rs41298474
|
0.00038
|
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)
|
rs200379491
|
0.00005
|
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro)
|
rs767384093
|
0.00005
|
NM_000426.4(LAMA2):c.149C>T (p.Ala50Val)
|
rs191899712
|
0.00004
|
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val)
|
rs2808001
|
0.00003
|
NM_001195553.2(DCX):c.-22-364C>T
|
rs761786389
|
0.00003
|
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)
|
rs398122965
|
0.00003
|
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys)
|
rs376357016
|
0.00002
|
NM_025265.4(TSEN2):c.353_354del (p.Gln118fs)
|
rs755246924
|
0.00002
|
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val)
|
rs774157225
|
0.00002
|
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp)
|
rs771741606
|
0.00001
|
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser)
|
rs536596969
|
0.00001
|
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)
|
rs767120669
|
0.00001
|
NM_001849.4(COL6A2):c.2891T>C (p.Met964Thr)
|
rs1427750922
|
0.00001
|
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)
|
rs751549678
|
0.00001
|
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)
|
rs759785462
|
0.00001
|
NM_144508.5(KNL1):c.1521A>G (p.Gln507=)
|
rs979186313
|
0.00001
|
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys)
|
rs897976020
|
0.00001
|
NC_000001.10:g.(?_206516175)_(206567055_?)dup
|
|
|
NC_000001.10:g.(?_206579711)_(206634815_?)dup
|
|
|
NC_000002.11:g.(?_166152283)_(166246384_?)dup
|
|
|
NC_000002.11:g.(?_166847704)_(166930181_?)dup
|
|
|
NC_000002.11:g.(?_167055131)_(167168316_?)dup
|
|
|
NC_000014.8:g.(?_67243157)_(67647704_?)del
|
|
|
NC_000014.9:g.(?_66776464)_(66776521_?)del
|
|
|
NC_000014.9:g.(?_66824474)_(66824566_?)del
|
|
|
NC_000016.10:g.(?_29824300)_(29826034_?)del
|
|
|
NC_000016.10:g.(?_6316970)_(6317082_?)del
|
|
|
NC_000016.10:g.(?_6654578)_(6654675_?)del
|
|
|
NC_000017.11:g.(?_2638238)_(2638345_?)del
|
|
|
NC_000017.11:g.(?_2680139)_(2681852_?)del
|
|
|
NC_000022.11:g.(?_21213348)_(21242174_?)del
|
|
|
NC_000022.11:g.(?_32200123)_(32200234_?)del
|
|
|
NM_000070.3(CAPN3):c.1963del (p.Arg655fs)
|
rs1566984441
|
|
NM_000098.3(CPT2):c.1323_1326del (p.Thr442fs)
|
rs1557718075
|
|
NM_000117.3(EMD):c.16del (p.Asp6fs)
|
rs1569552076
|
|
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)
|
rs863224471
|
|
NM_000193.4(SHH):c.143del (p.Ile48fs)
|
rs1554495331
|
|
NM_000426.4(LAMA2):c.8075+1G>A
|
rs1055407857
|
|
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter)
|
rs1332371891
|
|
NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp)
|
rs1135401786
|
|
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)
|
rs121909095
|
|
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)
|
rs796053353
|
|
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys)
|
rs796053126
|
|
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)
|
rs796053138
|
|
NM_001040142.2(SCN2A):c.5117G>C (p.Cys1706Ser)
|
rs1553463513
|
|
NM_001040142.2(SCN2A):c.5551C>T (p.Arg1851Trp)
|
rs1553463718
|
|
NM_001100.4(ACTA1):c.529A>G (p.Ile177Val)
|
rs1558081804
|
|
NM_001110792.2(MECP2):c.1123_1124insC (p.Lys375fs)
|
rs1557135929
|
|
NM_001110792.2(MECP2):c.1386C>G (p.Tyr462Ter)
|
rs1557134999
|
|
NM_001110792.2(MECP2):c.953G>A (p.Arg318His)
|
rs61751443
|
|
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His)
|
rs762258343
|
|
NM_001134407.3(GRIN2A):c.1928C>A (p.Ala643Asp)
|
rs879253875
|
|
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met)
|
rs1445802934
|
|
NM_001165963.4(SCN1A):c.2020_2023del (p.Asp674fs)
|
rs1553544470
|
|
NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter)
|
rs794726721
|
|
NM_001165963.4(SCN1A):c.338C>G (p.Pro113Arg)
|
rs1553553462
|
|
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu)
|
rs121917945
|
|
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)
|
rs121917915
|
|
NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His)
|
rs1553551493
|
|
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met)
|
rs121917922
|
|
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe)
|
rs794726760
|
|
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
|
rs121918624
|
|
NM_001267550.2(TTN):c.106531+1G>A
|
rs760915007
|
|
NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro)
|
rs1560689563
|
|
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter)
|
rs397517547
|
|
NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs)
|
rs1553775212
|
|
NM_001267550.2(TTN):c.87019_87022del (p.Glu29007fs)
|
rs1559267059
|
|
NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs)
|
rs1559187287
|
|
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs)
|
rs267608433
|
|
NM_001323289.2(CDKL5):c.176G>C (p.Arg59Pro)
|
rs1555949009
|
|
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter)
|
rs267608659
|
|
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)
|
rs61753251
|
|
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr)
|
rs122460157
|
|
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr)
|
rs1555950468
|
|
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)
|
rs1057524820
|
|
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg)
|
rs1556389083
|
|
NM_001374736.1(DST):c.23402C>T (p.Pro7801Leu)
|
rs1242078669
|
|
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg)
|
rs1057521793
|
|
NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser)
|
rs1555976973
|
|
NM_001848.3(COL6A1):c.1483C>T (p.Pro495Ser)
|
rs1569518677
|
|
NM_001849.4(COL6A2):c.1806C>A (p.Cys602Ter)
|
rs751987553
|
|
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg)
|
rs1057518943
|
|
NM_003289.4(TPM2):c.269G>A (p.Arg90His)
|
rs1563929454
|
|
NM_004369.4(COL6A3):c.6320_6322del (p.Gly2107del)
|
rs1559225974
|
|
NM_004408.4(DNM1):c.442C>A (p.Gln148Lys)
|
rs1554772945
|
|
NM_004519.4(KCNQ3):c.899T>C (p.Phe300Ser)
|
rs1554627439
|
|
NM_004523.4(KIF11):c.2972dup (p.Ser992fs)
|
rs1554863246
|
|
NM_004974.4(KCNA2):c.959C>T (p.Thr320Ile)
|
rs1553181323
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter)
|
rs398124202
|
|
NM_005249.5(FOXG1):c.764G>A (p.Trp255Ter)
|
rs1555321351
|
|
NM_005866.4(SIGMAR1):c.446-25_*40del
|
rs1554707622
|
|
NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs)
|
rs1554707680
|
|
NM_006772.3(SYNGAP1):c.34_35del (p.Ser12fs)
|
rs1554304254
|
|
NM_007289.4(MME):c.1666C>T (p.Pro556Ser)
|
rs1559961997
|
|
NM_007289.4(MME):c.1972G>A (p.Ala658Thr)
|
rs1559963660
|
|
NM_012062.5(DNM1L):c.1337G>T (p.Cys446Phe)
|
rs879253874
|
|
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)
|
rs1554504681
|
|
NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr)
|
rs762729182
|
|
NM_020461.3(TUBGCP6):c.4315+2_4315+3delTG
|
|
|
NM_020708.5(SLC12A5):c.3274G>A (p.Glu1092Lys)
|
rs1555868402
|
|
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp)
|
rs1057519547
|
|
NM_021942.6(TRAPPC11):c.1568-1G>A
|
rs1180079162
|
|
NM_024577.4(SH3TC2):c.2640del (p.Asn881fs)
|
rs1561764569
|
|
NM_025265.4(TSEN2):c.1037A>G (p.Tyr346Cys)
|
rs1477347690
|
|
NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs)
|
rs1553283916
|
|
NM_139058.3(ARX):c.1039T>G (p.Phe347Val)
|
rs1556054888
|
|
NM_144508.5(KNL1):c.6349G>T (p.Asp2117Tyr)
|
rs758157294
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_172107.4(KCNQ2):c.1016T>A (p.Leu339Gln)
|
rs118192217
|
|
NM_172107.4(KCNQ2):c.778C>T (p.His260Tyr)
|
rs1555871832
|
|
NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser)
|
rs1555870554
|
|
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr)
|
rs1057523728
|
|
NM_173728.4(ARHGEF15):c.709_723del (p.Val237_Ala241del)
|
rs1555546796
|
|
NM_198904.4(GABRG2):c.704G>A (p.Trp235Ter)
|
rs1554098226
|
|
NM_213599.3(ANO5):c.1767C>A (p.Tyr589Ter)
|
rs188150039
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
TSEN54:c.[277T>C;919G>T]
|
|
|