NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)
|
rs376808313
|
0.00045
|
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)
|
rs201322234
|
0.00030
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
NM_001171613.2(PREPL):c.1753+1G>T
|
rs148092524
|
0.00009
|
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)
|
rs121909254
|
0.00006
|
NM_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile)
|
rs776720609
|
0.00004
|
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)
|
rs372760913
|
0.00004
|
NM_000080.4(CHRNE):c.-95G>A
|
rs990457690
|
0.00003
|
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs)
|
rs1268475945
|
0.00003
|
NM_000080.4(CHRNE):c.971del (p.Ile324fs)
|
rs879255562
|
0.00003
|
NM_001171613.2(PREPL):c.888+1G>A
|
rs758019788
|
0.00003
|
NM_001368882.1(COL13A1):c.1285-1G>C
|
rs763197055
|
0.00003
|
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala)
|
rs375215281
|
0.00003
|
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys)
|
rs368932156
|
0.00003
|
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)
|
rs769234940
|
0.00003
|
NM_020549.5(CHAT):c.620G>A (p.Arg207His)
|
rs764497513
|
0.00003
|
NM_173660.5(DOK7):c.1511_1513del (p.Pro504_Ter505delinsArg)
|
rs762345055
|
0.00003
|
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu)
|
rs770987150
|
0.00003
|
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs)
|
rs776927709
|
0.00002
|
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)
|
rs28929768
|
0.00002
|
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)
|
rs372635387
|
0.00002
|
NM_001244710.2(GFPT1):c.209A>G (p.Asp70Gly)
|
rs530830788
|
0.00002
|
NM_005055.5(RAPSN):c.-210A>G
|
rs786200905
|
0.00002
|
NM_005677.4(COLQ):c.555+1G>A
|
rs769276577
|
0.00002
|
NM_020549.5(CHAT):c.1492T>C (p.Ser498Pro)
|
rs1409506586
|
0.00002
|
NM_173660.5(DOK7):c.773-2_773-1del
|
rs770163440
|
0.00002
|
NM_198576.4(AGRN):c.5012G>A (p.Arg1671Gln)
|
rs769667244
|
0.00002
|
NM_000080.4(CHRNE):c.-96C>T
|
rs748144899
|
0.00001
|
NM_000080.4(CHRNE):c.1033-2A>T
|
rs786204773
|
0.00001
|
NM_000080.4(CHRNE):c.1164del (p.Lys388fs)
|
rs1222065184
|
0.00001
|
NM_000080.4(CHRNE):c.1220-1G>A
|
rs373710822
|
0.00001
|
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)
|
rs121909514
|
0.00001
|
NM_000080.4(CHRNE):c.794C>G (p.Pro265Arg)
|
rs759226183
|
0.00001
|
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)
|
rs879253789
|
0.00001
|
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)
|
rs527236148
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1734C>T
|
rs374594354
|
0.00001
|
NM_001171613.2(PREPL):c.1262+1G>A
|
rs1172015222
|
0.00001
|
NM_001171613.2(PREPL):c.1263-1G>C
|
rs1316112168
|
0.00001
|
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His)
|
rs189717232
|
0.00001
|
NM_001368882.1(COL13A1):c.709C>T (p.Arg237Ter)
|
rs769673346
|
0.00001
|
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys)
|
rs746187785
|
0.00001
|
NM_001382.4(DPAGT1):c.643+2T>C
|
rs774754436
|
0.00001
|
NM_002334.4(LRP4):c.1184-1G>A
|
rs1941502709
|
0.00001
|
NM_005055.5(RAPSN):c.1070dup (p.Glu358fs)
|
rs1475015182
|
0.00001
|
NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys)
|
rs767507908
|
0.00001
|
NM_005055.5(RAPSN):c.531+1G>T
|
rs1421354085
|
0.00001
|
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)
|
rs374604570
|
0.00001
|
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser)
|
rs551423795
|
0.00001
|
NM_005677.4(COLQ):c.1281C>T (p.Cys427=)
|
rs185829251
|
0.00001
|
NM_005677.4(COLQ):c.954+1G>A
|
rs757060689
|
0.00001
|
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys)
|
rs121912822
|
0.00001
|
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys)
|
rs121912816
|
0.00001
|
NM_020549.5(CHAT):c.1510C>T (p.Arg504Ter)
|
rs371470622
|
0.00001
|
NM_020549.5(CHAT):c.1516G>T (p.Val506Leu)
|
rs121912817
|
0.00001
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
NM_020549.5(CHAT):c.1681C>T (p.Arg561Ter)
|
rs1458796820
|
0.00001
|
NM_020549.5(CHAT):c.243G>A (p.Trp81Ter)
|
rs1384661323
|
0.00001
|
NM_020549.5(CHAT):c.841C>T (p.Arg281Trp)
|
rs747108035
|
0.00001
|
NM_173660.5(DOK7):c.436C>T (p.Pro146Ser)
|
rs1727094027
|
0.00001
|
NM_198576.4(AGRN):c.3250+1G>A
|
rs759853904
|
0.00001
|
GRCh37/hg19 11p11.2(chr11:47459526-47460482)
|
|
|
NC_000002.12:g.(?_69363535)_(69363680_?)del
|
|
|
NC_000004.11:g.(3478270_3487265)_(3487386_3491403)del
|
|
|
NC_000009.11:g.(?_113431213)_(113441760_?)del
|
|
|
NC_000009.11:g.(?_113457663)_(113524508_?)dup
|
|
|
NC_000009.11:g.(?_113496521)_(113524498_?)dup
|
|
|
NM_000079.4(CHRNA1):c.380_381del (p.Lys127fs)
|
rs1574007436
|
|
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)
|
rs137852801
|
|
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs)
|
rs1064793397
|
|
NM_000080.4(CHRNE):c.1016_1032+2dup
|
|
|
NM_000080.4(CHRNE):c.1032+1G>A
|
rs1458613529
|
|
NM_000080.4(CHRNE):c.1033-2del
|
|
|
NM_000080.4(CHRNE):c.1050_1065dup (p.Ser356fs)
|
|
|
NM_000080.4(CHRNE):c.1052C>G (p.Pro351Arg)
|
|
|
NM_000080.4(CHRNE):c.1086_1111dup (p.Arg371fs)
|
|
|
NM_000080.4(CHRNE):c.1096_1103dup (p.Arg371fs)
|
|
|
NM_000080.4(CHRNE):c.1108del (p.Arg370fs)
|
rs1969856640
|
|
NM_000080.4(CHRNE):c.1144G>T (p.Glu382Ter)
|
|
|
NM_000080.4(CHRNE):c.115dup (p.Ser39fs)
|
rs977512223
|
|
NM_000080.4(CHRNE):c.1162_1163del (p.Lys388fs)
|
|
|
NM_000080.4(CHRNE):c.1203del (p.Gln402fs)
|
rs1429181185
|
|
NM_000080.4(CHRNE):c.1216_1219+19del
|
rs760623071
|
|
NM_000080.4(CHRNE):c.1220-1G>C
|
rs373710822
|
|
NM_000080.4(CHRNE):c.1220-2A>C
|
|
|
NM_000080.4(CHRNE):c.1220-2A>G
|
rs1309292778
|
|
NM_000080.4(CHRNE):c.1220-6_1227del
|
rs1567635954
|
|
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs)
|
rs769945146
|
|
NM_000080.4(CHRNE):c.1297_1314dup (p.Ser433_Glu438dup)
|
rs1969834618
|
|
NM_000080.4(CHRNE):c.1309C>T (p.Gln437Ter)
|
|
|
NM_000080.4(CHRNE):c.1326+1G>A
|
rs1430654625
|
|
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter)
|
rs918839874
|
|
NM_000080.4(CHRNE):c.1371del (p.Cys458fs)
|
rs1597612665
|
|
NM_000080.4(CHRNE):c.1388T>G (p.Leu463Arg)
|
|
|
NM_000080.4(CHRNE):c.1429del (p.Ala477fs)
|
rs1396286715
|
|
NM_000080.4(CHRNE):c.1457C>T (p.Pro486Leu)
|
rs1969817843
|
|
NM_000080.4(CHRNE):c.189+1G>A
|
|
|
NM_000080.4(CHRNE):c.190-2A>G
|
|
|
NM_000080.4(CHRNE):c.209_210del (p.Leu70fs)
|
|
|
NM_000080.4(CHRNE):c.219dup (p.Val74fs)
|
|
|
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)
|
|
|
NM_000080.4(CHRNE):c.235-2A>G
|
rs1597622118
|
|
NM_000080.4(CHRNE):c.281del (p.Gly94fs)
|
|
|
NM_000080.4(CHRNE):c.342dup (p.Asn115fs)
|
|
|
NM_000080.4(CHRNE):c.345-1G>A
|
|
|
NM_000080.4(CHRNE):c.345-2A>G
|
|
|
NM_000080.4(CHRNE):c.345-2A>T
|
rs2151098412
|
|
NM_000080.4(CHRNE):c.346dup (p.Ile116fs)
|
|
|
NM_000080.4(CHRNE):c.3G>A (p.Met1Ile)
|
rs1970039895
|
|
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)
|
rs483353045
|
|
NM_000080.4(CHRNE):c.421C>G (p.Pro141Ala)
|
rs483353045
|
|
NM_000080.4(CHRNE):c.432C>A (p.Tyr144Ter)
|
|
|
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser)
|
rs1597621396
|
|
NM_000080.4(CHRNE):c.443G>A (p.Cys148Tyr)
|
|
|
NM_000080.4(CHRNE):c.452_454del (p.Glu151del)
|
rs2151098283
|
|
NM_000080.4(CHRNE):c.46+1G>T
|
rs746199600
|
|
NM_000080.4(CHRNE):c.47-1G>A
|
|
|
NM_000080.4(CHRNE):c.488C>G (p.Ser163Trp)
|
rs121909516
|
|
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)
|
rs121909516
|
|
NM_000080.4(CHRNE):c.497T>G (p.Phe166Cys)
|
|
|
NM_000080.4(CHRNE):c.500+2T>C
|
|
|
NM_000080.4(CHRNE):c.501-10_504dup
|
rs768552387
|
|
NM_000080.4(CHRNE):c.501-16G>A
|
rs879255563
|
|
NM_000080.4(CHRNE):c.501-1G>C
|
|
|
NM_000080.4(CHRNE):c.529_531del (p.Glu177del)
|
rs779816027
|
|
NM_000080.4(CHRNE):c.530_531insCCAC (p.Glu177fs)
|
|
|
NM_000080.4(CHRNE):c.535A>C (p.Thr179Pro)
|
|
|
NM_000080.4(CHRNE):c.583G>T (p.Asp195Tyr)
|
rs774425374
|
|
NM_000080.4(CHRNE):c.601+1G>T
|
|
|
NM_000080.4(CHRNE):c.602-1G>A
|
|
|
NM_000080.4(CHRNE):c.604A>T (p.Asn202Tyr)
|
|
|
NM_000080.4(CHRNE):c.605del (p.Asn202fs)
|
|
|
NM_000080.4(CHRNE):c.693del (p.Tyr232fs)
|
|
|
NM_000080.4(CHRNE):c.696C>A (p.Tyr232Ter)
|
|
|
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln)
|
rs2151097307
|
|
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)
|
rs28999110
|
|
NM_000080.4(CHRNE):c.726del (p.Tyr243fs)
|
|
|
NM_000080.4(CHRNE):c.72del (p.Glu24fs)
|
|
|
NM_000080.4(CHRNE):c.764C>G (p.Ser255Trp)
|
|
|
NM_000080.4(CHRNE):c.786C>A (p.Tyr262Ter)
|
|
|
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)
|
rs759226183
|
|
NM_000080.4(CHRNE):c.803-1G>T
|
|
|
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter)
|
rs773929089
|
|
NM_000080.4(CHRNE):c.853G>A (p.Val285Ile)
|
|
|
NM_000080.4(CHRNE):c.855CTT[1] (p.Phe286del)
|
|
|
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
|
|
|
NM_000080.4(CHRNE):c.880dup (p.Ile294fs)
|
|
|
NM_000080.4(CHRNE):c.891_892insCTCTGGGATT (p.Ser298fs)
|
|
|
NM_000080.4(CHRNE):c.904C>G (p.Pro302Ala)
|
rs979787967
|
|
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)
|
rs370019023
|
|
NM_000080.4(CHRNE):c.905C>T (p.Pro302Leu)
|
rs370019023
|
|
NM_000080.4(CHRNE):c.916A>T (p.Arg306Trp)
|
|
|
NM_000080.4(CHRNE):c.922del (p.Ile309fs)
|
|
|
NM_000080.4(CHRNE):c.929del (p.Phe310fs)
|
|
|
NM_000080.4(CHRNE):c.934_936del (p.Met312del)
|
rs1555546465
|
|
NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter)
|
rs56377005
|
|
NM_000080.4(CHRNE):c.984_986delinsT (p.Ser329fs)
|
|
|
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp)
|
rs121909515
|
|
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)
|
rs760022829
|
|
NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys)
|
rs1181083611
|
|
NM_000334.4(SCN4A):c.3733G>A (p.Gly1245Ser)
|
|
|
NM_000334.4(SCN4A):c.435C>A (p.Cys145Ter)
|
|
|
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile)
|
rs886041805
|
|
NM_000747.3(CHRNB1):c.199-2A>C
|
|
|
NM_000747.3(CHRNB1):c.353+1del
|
|
|
NM_000747.3(CHRNB1):c.354-1G>A
|
rs1597749210
|
|
NM_000747.3(CHRNB1):c.58+1G>A
|
|
|
NM_000747.3(CHRNB1):c.611-1G>C
|
|
|
NM_000747.3(CHRNB1):c.687_688insT (p.Gly230fs)
|
rs1908762801
|
|
NM_000747.3(CHRNB1):c.757_820+135del
|
|
|
NM_000747.3(CHRNB1):c.854T>C (p.Leu285Pro)
|
rs2150842362
|
|
NM_000751.3(CHRND):c.1107del (p.Ser370fs)
|
|
|
NM_000751.3(CHRND):c.248G>A (p.Trp83Ter)
|
rs2106208285
|
|
NM_000751.3(CHRND):c.52+1G>A
|
rs2106205676
|
|
NM_000751.3(CHRND):c.982_983del (p.Val328fs)
|
|
|
NM_001145536.2(C17orf107):c.*1010C>G
|
rs774425374
|
|
NM_001145536.2(C17orf107):c.*368_*378del
|
|
|
NM_001171613.2(PREPL):c.-48-2A>G
|
rs753545038
|
|
NM_001171613.2(PREPL):c.-48-2A>T
|
|
|
NM_001171613.2(PREPL):c.1086+2T>C
|
|
|
NM_001171613.2(PREPL):c.1366C>T (p.Gln456Ter)
|
rs1673549822
|
|
NM_001171613.2(PREPL):c.1412_1479+41del
|
|
|
NM_001171613.2(PREPL):c.1553G>A (p.Trp518Ter)
|
rs1673169930
|
|
NM_001171613.2(PREPL):c.1753+2T>C
|
|
|
NM_001171613.2(PREPL):c.1827G>T (p.Lys609Asn)
|
|
|
NM_001171613.2(PREPL):c.350-1G>T
|
|
|
NM_001171613.2(PREPL):c.703-2A>G
|
rs2103914962
|
|
NM_001171613.2(PREPL):c.981dup (p.Tyr328fs)
|
rs1553354962
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001244710.2(GFPT1):c.1105+1G>A
|
rs1553389102
|
|
NM_001244710.2(GFPT1):c.1106-1G>T
|
rs1670970306
|
|
NM_001244710.2(GFPT1):c.1526T>C (p.Met509Thr)
|
|
|
NM_001244710.2(GFPT1):c.211G>T (p.Glu71Ter)
|
|
|
NM_001244710.2(GFPT1):c.398A>G (p.Lys133Arg)
|
|
|
NM_001244710.2(GFPT1):c.408+5G>A
|
rs1558762013
|
|
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln)
|
rs775399768
|
|
NM_001244710.2(GFPT1):c.739+1G>A
|
|
|
NM_001368882.1(COL13A1):c.2022+1G>C
|
|
|
NM_001368882.1(COL13A1):c.457G>T (p.Glu153Ter)
|
|
|
NM_001368882.1(COL13A1):c.513del (p.Gly172fs)
|
rs1564932829
|
|
NM_001368882.1(COL13A1):c.685-1164T>C
|
rs1554943789
|
|
NM_001368882.1(COL13A1):c.803del (p.Pro268fs)
|
|
|
NM_001382.4(DPAGT1):c.1005+1G>A
|
|
|
NM_001382.4(DPAGT1):c.1097T>C (p.Leu366Ser)
|
rs2134898234
|
|
NM_001382.4(DPAGT1):c.187G>A (p.Gly63Ser)
|
|
|
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)
|
rs387907243
|
|
NM_001382.4(DPAGT1):c.457A>T (p.Lys153Ter)
|
rs1946485389
|
|
NM_001382.4(DPAGT1):c.644-1G>T
|
rs2134903748
|
|
NM_001382.4(DPAGT1):c.742G>A (p.Val248Met)
|
|
|
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)
|
rs397515328
|
|
NM_002334.4(LRP4):c.1184-2A>G
|
|
|
NM_002334.4(LRP4):c.1560G>A (p.Trp520Ter)
|
rs1479002757
|
|
NM_002334.4(LRP4):c.2507-1G>A
|
|
|
NM_002334.4(LRP4):c.3699+1G>A
|
|
|
NM_002334.4(LRP4):c.409G>A (p.Asp137Asn)
|
rs267607222
|
|
NM_002334.4(LRP4):c.547+1G>A
|
rs762425885
|
|
NM_002334.4(LRP4):c.898G>A (p.Asp300Asn)
|
|
|
NM_003055.3(SLC18A3):c.1192G>C (p.Asp398His)
|
rs1057517666
|
|
NM_005055.4(RAPSN):c.-199C>G
|
rs886037842
|
|
NM_005055.4(RAPSN):c.[524A>G];[829A>G]
|
|
|
NM_005055.5(RAPSN):c.133G>T (p.Val45Leu)
|
|
|
NM_005055.5(RAPSN):c.193-2A>C
|
rs1595902947
|
|
NM_005055.5(RAPSN):c.193-5_201del
|
|
|
NM_005055.5(RAPSN):c.272G>A (p.Arg91His)
|
rs375218091
|
|
NM_005055.5(RAPSN):c.272G>C (p.Arg91Pro)
|
rs375218091
|
|
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
|
|
|
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)
|
rs1479498379
|
|
NM_005055.5(RAPSN):c.691-1G>A
|
|
|
NM_005055.5(RAPSN):c.872G>C (p.Gly291Ala)
|
rs374604570
|
|
NM_005055.5(RAPSN):c.911_912+1dup
|
rs2153308410
|
|
NM_005055.5(RAPSN):c.913-1G>C
|
|
|
NM_005055.5(RAPSN):c.966+1_966+2delinsAG
|
rs2153308170
|
|
NM_005245.4(FAT1):c.2600_2601del (p.Thr867fs)
|
rs1579484850
|
|
NM_005592.4(MUSK):c.1043A>C (p.Gln348Pro)
|
|
|
NM_005592.4(MUSK):c.114T>A (p.Asp38Glu)
|
|
|
NM_005592.4(MUSK):c.1184+2T>C
|
|
|
NM_005592.4(MUSK):c.1185-2A>G
|
|
|
NM_005592.4(MUSK):c.1360+1G>A
|
|
|
NM_005592.4(MUSK):c.1586+1G>A
|
|
|
NM_005592.4(MUSK):c.1778+1G>T
|
rs2132026515
|
|
NM_005592.4(MUSK):c.206+2T>C
|
|
|
NM_005592.4(MUSK):c.207-1G>A
|
|
|
NM_005592.4(MUSK):c.2360C>T (p.Ala787Val)
|
|
|
NM_005592.4(MUSK):c.2382G>C (p.Glu794Asp)
|
rs756877019
|
|
NM_005592.4(MUSK):c.2461C>T (p.Leu821Phe)
|
rs2078085499
|
|
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu)
|
rs375737188
|
|
NM_005592.4(MUSK):c.486+1G>C
|
rs1204788520
|
|
NM_005592.4(MUSK):c.754-1G>T
|
|
|
NM_005592.4(MUSK):c.754-2A>G
|
rs1587986079
|
|
NM_005592.4(MUSK):c.790_791delinsTGC (p.Arg264fs)
|
|
|
NM_005592.4(MUSK):c.913+2T>C
|
|
|
NM_005592.4(MUSK):c.920+1G>A
|
|
|
NM_005677.4(COLQ):c.1026C>A (p.Asp342Glu)
|
|
|
NM_005677.4(COLQ):c.1026C>G (p.Asp342Glu)
|
rs758554049
|
|
NM_005677.4(COLQ):c.1054_1063del (p.Leu352fs)
|
|
|
NM_005677.4(COLQ):c.106+2_106+10del
|
|
|
NM_005677.4(COLQ):c.107-1G>A
|
rs1269227357
|
|
NM_005677.4(COLQ):c.1129del (p.Asp377fs)
|
rs1559511788
|
|
NM_005677.4(COLQ):c.1162G>A (p.Asp388Asn)
|
rs1008156537
|
|
NM_005677.4(COLQ):c.1217G>C (p.Gly406Ala)
|
rs1306593300
|
|
NM_005677.4(COLQ):c.1225dup (p.His409fs)
|
rs1559510978
|
|
NM_005677.4(COLQ):c.124C>T (p.Gln42Ter)
|
|
|
NM_005677.4(COLQ):c.1250G>A (p.Cys417Tyr)
|
|
|
NM_005677.4(COLQ):c.1298G>A (p.Gly433Glu)
|
rs1575460231
|
|
NM_005677.4(COLQ):c.1331G>A (p.Cys444Tyr)
|
|
|
NM_005677.4(COLQ):c.1340A>T (p.Asp447Val)
|
|
|
NM_005677.4(COLQ):c.175C>T (p.Pro59Ser)
|
|
|
NM_005677.4(COLQ):c.176C>A (p.Pro59Gln)
|
|
|
NM_005677.4(COLQ):c.19del (p.Pro6_Met7insTer)
|
|
|
NM_005677.4(COLQ):c.201del (p.Phe67fs)
|
|
|
NM_005677.4(COLQ):c.268C>T (p.Gln90Ter)
|
|
|
NM_005677.4(COLQ):c.319C>T (p.Gln107Ter)
|
|
|
NM_005677.4(COLQ):c.319dup (p.Gln107fs)
|
|
|
NM_005677.4(COLQ):c.322-1G>C
|
|
|
NM_005677.4(COLQ):c.366+1G>C
|
rs2125123160
|
|
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter)
|
rs143766249
|
|
NM_005677.4(COLQ):c.393+1G>A
|
rs1085307792
|
|
NM_005677.4(COLQ):c.444G>A (p.Trp148Ter)
|
rs1369980189
|
|
NM_005677.4(COLQ):c.466-1G>A
|
|
|
NM_005677.4(COLQ):c.528+1G>A
|
|
|
NM_005677.4(COLQ):c.529-2A>G
|
rs755236236
|
|
NM_005677.4(COLQ):c.54_57del (p.Ile20fs)
|
rs771879602
|
|
NM_005677.4(COLQ):c.555+1G>T
|
|
|
NM_005677.4(COLQ):c.57dup (p.Ile20fs)
|
rs777102590
|
|
NM_005677.4(COLQ):c.589A>T (p.Lys197Ter)
|
|
|
NM_005677.4(COLQ):c.718-1276C>T
|
rs2062220124
|
|
NM_005677.4(COLQ):c.814+1G>A
|
|
|
NM_005677.4(COLQ):c.814+2T>C
|
rs1002244829
|
|
NM_005677.4(COLQ):c.839_845dup (p.Phe284fs)
|
|
|
NM_005677.4(COLQ):c.870_871del (p.Cys291fs)
|
|
|
NM_005677.4(COLQ):c.955-2A>C
|
|
|
NM_005677.4(COLQ):c.95del (p.Pro32fs)
|
|
|
NM_005677.4(COLQ):c.992_998del (p.Leu331fs)
|
|
|
NM_005984.5(SLC25A1):c.121T>C (p.Cys41Arg)
|
|
|
NM_006901.4(MYO9A):c.3001-2A>G
|
rs2143524373
|
|
NM_014231.5(VAMP1):c.340del (p.Ile114fs)
|
rs746220436
|
|
NM_020549.5(CHAT):c.1060A>T (p.Thr354Ser)
|
rs2132735749
|
|
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
|
|
|
NM_020549.5(CHAT):c.1249G>A (p.Gly417Arg)
|
|
|
NM_020549.5(CHAT):c.1254del (p.Asn419fs)
|
rs1272947184
|
|
NM_020549.5(CHAT):c.1282-2A>T
|
|
|
NM_020549.5(CHAT):c.1294C>T (p.Arg432Ter)
|
|
|
NM_020549.5(CHAT):c.1382+2_1382+3del
|
|
|
NM_020549.5(CHAT):c.1383-1G>A
|
rs2132811750
|
|
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)
|
|
|
NM_020549.5(CHAT):c.1418_1419dup (p.Val474fs)
|
|
|
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)
|
|
|
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly)
|
rs121912818
|
|
NM_020549.5(CHAT):c.1468_1470delinsC (p.Glu490fs)
|
|
|
NM_020549.5(CHAT):c.1663G>A (p.Glu555Lys)
|
rs757303526
|
|
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter)
|
rs757303526
|
|
NM_020549.5(CHAT):c.1678C>T (p.Arg560Cys)
|
|
|
NM_020549.5(CHAT):c.1715C>A (p.Ser572Ter)
|
rs753652169
|
|
NM_020549.5(CHAT):c.1721C>T (p.Thr574Ile)
|
rs1839995781
|
|
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)
|
|
|
NM_020549.5(CHAT):c.1896_1918del (p.Ala633fs)
|
rs2132852540
|
|
NM_020549.5(CHAT):c.1916C>T (p.Pro639Leu)
|
|
|
NM_020549.5(CHAT):c.1977+1_1977+9del
|
rs1207292931
|
|
NM_020549.5(CHAT):c.2046C>G (p.Tyr682Ter)
|
|
|
NM_020549.5(CHAT):c.413del (p.Pro138fs)
|
|
|
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
|
|
|
NM_020549.5(CHAT):c.593G>A (p.Trp198Ter)
|
|
|
NM_020549.5(CHAT):c.619C>G (p.Arg207Gly)
|
rs760936252
|
|
NM_020549.5(CHAT):c.635T>A (p.Val212Asp)
|
rs1554802792
|
|
NM_020549.5(CHAT):c.698+1G>A
|
|
|
NM_020549.5(CHAT):c.698+1G>T
|
|
|
NM_020549.5(CHAT):c.698+2T>C
|
|
|
NM_020549.5(CHAT):c.753-2A>T
|
|
|
NM_020549.5(CHAT):c.982del (p.Asp328fs)
|
rs1590576560
|
|
NM_021815.5(SLC5A7):c.1207T>C (p.Tyr403His)
|
|
|
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer)
|
rs886039767
|
|
NM_021815.5(SLC5A7):c.1293C>G (p.Asn431Lys)
|
rs2104383095
|
|
NM_021815.5(SLC5A7):c.1349G>A (p.Gly450Glu)
|
|
|
NM_021815.5(SLC5A7):c.178+2T>C
|
|
|
NM_033087.4(ALG2):c.1040del (p.Gly347fs)
|
rs387906281
|
|
NM_033087.4(ALG2):c.1193T>C (p.Phe398Ser)
|
|
|
NM_130811.4(SNAP25):c.170T>C (p.Leu57Pro)
|
rs2123120184
|
|
NM_130811.4(SNAP25):c.508_528dup (p.Arg176_Gln177insGluIleAspThrGlnAsnArg)
|
|
|
NM_130811.4(SNAP25):c.542T>A (p.Ile181Asn)
|
|
|
NM_130811.4(SNAP25):c.553G>C (p.Ala185Pro)
|
rs1600807788
|
|
NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter)
|
rs2064355122
|
|
NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro)
|
rs2064355563
|
|
NM_130811.4(SNAP25):c.74C>T (p.Ser25Leu)
|
|
|
NM_173660.4(DOK7):c.[1263delC];[1263dupC]
|
|
|
NM_173660.5(DOK7):c.1166_1169del (p.Leu389fs)
|
rs1728633687
|
|
NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter)
|
rs544278158
|
|
NM_173660.5(DOK7):c.1263del (p.Ser422fs)
|
rs606231129
|
|
NM_173660.5(DOK7):c.1370_1446del (p.Glu457fs)
|
|
|
NM_173660.5(DOK7):c.1378dup (p.Gln460fs)
|
rs606231133
|
|
NM_173660.5(DOK7):c.1441dup (p.His481fs)
|
rs1168106708
|
|
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs)
|
rs797045040
|
|
NM_173660.5(DOK7):c.190G>C (p.Gly64Arg)
|
|
|
NM_173660.5(DOK7):c.332-1G>A
|
rs1490214819
|
|
NM_173660.5(DOK7):c.332-1G>C
|
|
|
NM_173660.5(DOK7):c.332-1G>T
|
rs1490214819
|
|
NM_173660.5(DOK7):c.332-2A>G
|
|
|
NM_173660.5(DOK7):c.396C>G (p.His132Gln)
|
rs779798129
|
|
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
|
|
|
NM_173660.5(DOK7):c.415G>C (p.Val139Leu)
|
rs571769859
|
|
NM_173660.5(DOK7):c.439del (p.Ala147fs)
|
rs1577153029
|
|
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
|
|
|
NM_173660.5(DOK7):c.513C>T (p.Gly171=)
|
rs775583136
|
|
NM_173660.5(DOK7):c.533-159_641del
|
rs2109369117
|
|
NM_173660.5(DOK7):c.533-2A>G
|
|
|
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr)
|
rs1553847993
|
|
NM_173660.5(DOK7):c.652+1dup
|
rs1727731607
|
|
NM_173660.5(DOK7):c.718del (p.Gln240fs)
|
rs2109388978
|
|
NM_173660.5(DOK7):c.773-1G>C
|
|
|
NM_173660.5(DOK7):c.957dup (p.Lys320fs)
|
rs794727884
|
|
NM_177402.5(SYT2):c.207del (p.Val70fs)
|
|
|
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu)
|
rs587777782
|
|
NM_198576.4(AGRN):c.1177+4_1177+50del
|
rs765679438
|
|
NM_198576.4(AGRN):c.1798+1G>T
|
|
|
NM_198576.4(AGRN):c.1799-1G>A
|
|
|
NM_198576.4(AGRN):c.226G>A (p.Gly76Ser)
|
rs756623659
|
|
NM_198576.4(AGRN):c.2371+1G>T
|
|
|
NM_198576.4(AGRN):c.3632-1G>C
|
|
|
NM_198576.4(AGRN):c.3632-2del
|
|
|
NM_198576.4(AGRN):c.464-2A>G
|
|
|
NM_198576.4(AGRN):c.4745-47_4753del
|
rs1570242061
|
|
NM_198576.4(AGRN):c.4922dup (p.Asn1641fs)
|
rs2100682020
|
|
NM_198576.4(AGRN):c.5011C>T (p.Arg1671Ter)
|
|
|
NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe)
|
rs587777298
|
|
NM_198576.4(AGRN):c.5254-1_5261del
|
|
|
NM_198576.4(AGRN):c.5276T>C (p.Leu1759Pro)
|
rs1557721600
|
|
NM_198576.4(AGRN):c.574_578dup (p.Ser194fs)
|
rs1570190059
|
|
NM_198576.4(AGRN):c.5876+1G>A
|
rs532386334
|
|
NM_198576.4(AGRN):c.667dup (p.Leu223fs)
|
rs1644909838
|
|
NM_198576.4(AGRN):c.952+1_952+3del
|
|
|