NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter)
|
rs967105970
|
0.00011
|
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys)
|
rs757479164
|
0.00005
|
NM_182961.4(SYNE1):c.15918-12A>G
|
rs606231134
|
0.00004
|
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter)
|
rs375077588
|
0.00002
|
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter)
|
rs778445117
|
0.00002
|
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter)
|
rs199708211
|
0.00002
|
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter)
|
rs549779256
|
0.00002
|
NM_182961.4(SYNE1):c.10768C>T (p.Arg3590Ter)
|
rs606231292
|
0.00001
|
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter)
|
rs752224921
|
0.00001
|
NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter)
|
rs766129413
|
0.00001
|
NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter)
|
rs1300885934
|
0.00001
|
NM_182961.4(SYNE1):c.19564C>T (p.Gln6522Ter)
|
rs781655232
|
0.00001
|
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter)
|
rs780451185
|
0.00001
|
NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter)
|
rs763325410
|
0.00001
|
NM_182961.4(SYNE1):c.22734G>A (p.Trp7578Ter)
|
rs780634258
|
0.00001
|
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter)
|
rs1174316105
|
0.00001
|
NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter)
|
rs760715690
|
0.00001
|
NM_182961.4(SYNE1):c.24814C>T (p.Arg8272Ter)
|
rs761433022
|
0.00001
|
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)
|
rs797046025
|
0.00001
|
NM_182961.4(SYNE1):c.352C>T (p.Arg118Ter)
|
rs1473936270
|
0.00001
|
NM_182961.4(SYNE1):c.4561C>T (p.Arg1521Ter)
|
rs771760718
|
0.00001
|
NM_182961.4(SYNE1):c.661C>T (p.Arg221Ter)
|
rs750266004
|
0.00001
|
NM_182961.4(SYNE1):c.7161del (p.Lys2388fs)
|
rs1220584620
|
0.00001
|
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter)
|
rs119103243
|
0.00001
|
NM_182961.4(SYNE1):c.9625A>T (p.Lys3209Ter)
|
rs780991031
|
0.00001
|
NC_000006.11:g.(?_152485278)_(152485480_?)del
|
|
|
NM_001347702.2(SYNE1):c.1473T>G (p.Tyr491Ter)
|
|
|
NM_182961.2(SYNE1):c.24979del
|
rs1562984446
|
|
NM_182961.3(SYNE1):c.9973delG (p.Ala3325Leufs)
|
rs1554550339
|
|
NM_182961.4(SYNE1):c.10145+1G>A
|
rs1563391747
|
|
NM_182961.4(SYNE1):c.1021G>T (p.Glu341Ter)
|
rs1203553546
|
|
NM_182961.4(SYNE1):c.10414C>T (p.Arg3472Ter)
|
rs2096893099
|
|
NM_182961.4(SYNE1):c.10443+1G>T
|
rs886042799
|
|
NM_182961.4(SYNE1):c.10492C>T (p.Gln3498Ter)
|
|
|
NM_182961.4(SYNE1):c.11205del (p.Ile3735fs)
|
rs2154044401
|
|
NM_182961.4(SYNE1):c.1171A>T (p.Arg391Ter)
|
|
|
NM_182961.4(SYNE1):c.11909_11910del (p.Met3970fs)
|
rs606231135
|
|
NM_182961.4(SYNE1):c.11971_11974del (p.Ile3991fs)
|
rs1246610728
|
|
NM_182961.4(SYNE1):c.12121C>T (p.Arg4041Ter)
|
rs886043963
|
|
NM_182961.4(SYNE1):c.12152G>A (p.Trp4051Ter)
|
rs2154018964
|
|
NM_182961.4(SYNE1):c.1219_1220del (p.Leu407fs)
|
rs1564367104
|
|
NM_182961.4(SYNE1):c.12247C>T (p.Gln4083Ter)
|
rs1590463470
|
|
NM_182961.4(SYNE1):c.12361_12362delinsG (p.Lys4121fs)
|
|
|
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs)
|
rs886042380
|
|
NM_182961.4(SYNE1):c.12596T>A (p.Leu4199Ter)
|
|
|
NM_182961.4(SYNE1):c.12891_12901del (p.Asp4297fs)
|
|
|
NM_182961.4(SYNE1):c.13021_13022del (p.Thr4341fs)
|
|
|
NM_182961.4(SYNE1):c.13299del (p.His4433fs)
|
rs1563130387
|
|
NM_182961.4(SYNE1):c.1369del (p.Asp457fs)
|
rs1554768245
|
|
NM_182961.4(SYNE1):c.13861dup (p.Thr4621fs)
|
rs1563123183
|
|
NM_182961.4(SYNE1):c.13948C>T (p.Arg4650Ter)
|
rs866163858
|
|
NM_182961.4(SYNE1):c.13956_13968del (p.Phe4652fs)
|
rs2153971833
|
|
NM_182961.4(SYNE1):c.14204del (p.Gln4735fs)
|
rs1764145184
|
|
NM_182961.4(SYNE1):c.14212G>T (p.Glu4738Ter)
|
rs1563118316
|
|
NM_182961.4(SYNE1):c.14278del (p.His4760fs)
|
rs2153970781
|
|
NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)
|
|
|
NM_182961.4(SYNE1):c.14673del (p.Glu4892fs)
|
|
|
NM_182961.4(SYNE1):c.14813T>A (p.Leu4938Ter)
|
rs2153969039
|
|
NM_182961.4(SYNE1):c.15049C>T (p.Gln5017Ter)
|
rs1563088209
|
|
NM_182961.4(SYNE1):c.15280del (p.Asp5094fs)
|
|
|
NM_182961.4(SYNE1):c.15304C>T (p.Gln5102Ter)
|
rs1270730854
|
|
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter)
|
rs1554451078
|
|
NM_182961.4(SYNE1):c.15586C>T (p.Arg5196Ter)
|
|
|
NM_182961.4(SYNE1):c.1562C>G (p.Ser521Ter)
|
rs1593379577
|
|
NM_182961.4(SYNE1):c.15681_15684del (p.Asp5228fs)
|
rs1291249200
|
|
NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter)
|
rs781354327
|
|
NM_182961.4(SYNE1):c.16085_16092del (p.Ile5362fs)
|
rs1554440887
|
|
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter)
|
rs772587027
|
|
NM_182961.4(SYNE1):c.16155C>G (p.Tyr5385Ter)
|
|
|
NM_182961.4(SYNE1):c.16228C>T (p.Arg5410Ter)
|
rs761432453
|
|
NM_182961.4(SYNE1):c.16390-2A>C
|
rs759460806
|
|
NM_182961.4(SYNE1):c.16390-2A>G
|
rs759460806
|
|
NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter)
|
rs797046024
|
|
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter)
|
rs746328978
|
|
NM_182961.4(SYNE1):c.17229T>G (p.Tyr5743Ter)
|
rs377344899
|
|
NM_182961.4(SYNE1):c.17284G>T (p.Glu5762Ter)
|
|
|
NM_182961.4(SYNE1):c.17312_17313del (p.Ile5771fs)
|
|
|
NM_182961.4(SYNE1):c.17628_17643del (p.Pro5877fs)
|
rs2153809530
|
|
NM_182961.4(SYNE1):c.17713G>T (p.Glu5905Ter)
|
|
|
NM_182961.4(SYNE1):c.17801del (p.Thr5934fs)
|
|
|
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs)
|
rs794727986
|
|
NM_182961.4(SYNE1):c.17872_17875del (p.Leu5958fs)
|
rs2153783491
|
|
NM_182961.4(SYNE1):c.18012+1G>T
|
rs1562842409
|
|
NM_182961.4(SYNE1):c.18141_18144del (p.Thr6048fs)
|
rs2153732048
|
|
NM_182961.4(SYNE1):c.18431C>G (p.Ser6144Ter)
|
rs2153709458
|
|
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter)
|
rs910956017
|
|
NM_182961.4(SYNE1):c.18715C>T (p.Gln6239Ter)
|
rs1562643321
|
|
NM_182961.4(SYNE1):c.18740_18741del (p.Leu6247fs)
|
rs886042657
|
|
NM_182961.4(SYNE1):c.18940C>T (p.Gln6314Ter)
|
|
|
NM_182961.4(SYNE1):c.18948dup (p.Leu6317fs)
|
|
|
NM_182961.4(SYNE1):c.18955C>T (p.Gln6319Ter)
|
|
|
NM_182961.4(SYNE1):c.19046_19048delinsGA (p.Ser6349_Ala6350delinsTer)
|
rs2153628887
|
|
NM_182961.4(SYNE1):c.1912C>T (p.Gln638Ter)
|
rs1554756035
|
|
NM_182961.4(SYNE1):c.19179G>A (p.Trp6393Ter)
|
|
|
NM_182961.4(SYNE1):c.19223T>A (p.Leu6408Ter)
|
rs758337239
|
|
NM_182961.4(SYNE1):c.1941dup (p.Arg648fs)
|
rs775516009
|
|
NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter)
|
rs1258745040
|
|
NM_182961.4(SYNE1):c.1942C>T (p.Arg648Ter)
|
|
|
NM_182961.4(SYNE1):c.19444del (p.Arg6482fs)
|
rs2153619687
|
|
NM_182961.4(SYNE1):c.19514dup (p.Tyr6505Ter)
|
rs886043012
|
|
NM_182961.4(SYNE1):c.19893+1G>T
|
rs1191629465
|
|
NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter)
|
rs1057520134
|
|
NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs)
|
rs1385280819
|
|
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter)
|
rs766499430
|
|
NM_182961.4(SYNE1):c.20179del (p.Asp6727fs)
|
rs2153537904
|
|
NM_182961.4(SYNE1):c.20196C>G (p.Tyr6732Ter)
|
|
|
NM_182961.4(SYNE1):c.20296G>T (p.Glu6766Ter)
|
|
|
NM_182961.4(SYNE1):c.20970del (p.Asp6991fs)
|
rs1554247806
|
|
NM_182961.4(SYNE1):c.21009G>A (p.Trp7003Ter)
|
|
|
NM_182961.4(SYNE1):c.21052G>T (p.Glu7018Ter)
|
rs1554246434
|
|
NM_182961.4(SYNE1):c.21072G>A (p.Trp7024Ter)
|
|
|
NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter)
|
rs1554226673
|
|
NM_182961.4(SYNE1):c.21741C>A (p.Tyr7247Ter)
|
rs1269308421
|
|
NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter)
|
rs138032057
|
|
NM_182961.4(SYNE1):c.21819del (p.Asp7273fs)
|
|
|
NM_182961.4(SYNE1):c.21934C>T (p.Gln7312Ter)
|
rs886042421
|
|
NM_182961.4(SYNE1):c.21975_21976delinsAT (p.Asp7325_Gln7326delinsGluTer)
|
|
|
NM_182961.4(SYNE1):c.22369C>T (p.Gln7457Ter)
|
rs119103245
|
|
NM_182961.4(SYNE1):c.22408G>T (p.Glu7470Ter)
|
rs1554573328
|
|
NM_182961.4(SYNE1):c.225+1del
|
rs2154353746
|
|
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs)
|
rs1554558620
|
|
NM_182961.4(SYNE1):c.22930C>T (p.Gln7644Ter)
|
rs2076486420
|
|
NM_182961.4(SYNE1):c.23001dup (p.Leu7668fs)
|
rs1554553667
|
|
NM_182961.4(SYNE1):c.23020-1G>A
|
rs1554544827
|
|
NM_182961.4(SYNE1):c.23071_23099del (p.Thr7691fs)
|
rs886043645
|
|
NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter)
|
rs119103244
|
|
NM_182961.4(SYNE1):c.23283G>A (p.Trp7761Ter)
|
|
|
NM_182961.4(SYNE1):c.23461-1G>A
|
rs1586909309
|
|
NM_182961.4(SYNE1):c.23492del (p.Glu7831fs)
|
rs1554491478
|
|
NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter)
|
rs775935265
|
|
NM_182961.4(SYNE1):c.23869del (p.Cys7957fs)
|
|
|
NM_182961.4(SYNE1):c.23979-2A>G
|
rs1362058277
|
|
NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)
|
|
|
NM_182961.4(SYNE1):c.24118A>T (p.Lys8040Ter)
|
|
|
NM_182961.4(SYNE1):c.24127G>T (p.Glu8043Ter)
|
rs1057520552
|
|
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)
|
rs1586296730
|
|
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His)
|
rs119103246
|
|
NM_182961.4(SYNE1):c.24313-2A>G
|
rs1586285494
|
|
NM_182961.4(SYNE1):c.24369G>A (p.Trp8123Ter)
|
rs2152915773
|
|
NM_182961.4(SYNE1):c.24537del (p.Leu8180fs)
|
|
|
NM_182961.4(SYNE1):c.24585C>A (p.Tyr8195Ter)
|
|
|
NM_182961.4(SYNE1):c.24977-13_24996del
|
|
|
NM_182961.4(SYNE1):c.25006C>T (p.Arg8336Ter)
|
|
|
NM_182961.4(SYNE1):c.25119+1G>A
|
rs1164612098
|
|
NM_182961.4(SYNE1):c.25258C>T (p.Arg8420Ter)
|
|
|
NM_182961.4(SYNE1):c.25326G>A (p.Trp8442Ter)
|
rs759939544
|
|
NM_182961.4(SYNE1):c.25359G>A (p.Trp8453Ter)
|
|
|
NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter)
|
rs2098713648
|
|
NM_182961.4(SYNE1):c.253C>T (p.Arg85Ter)
|
rs768958602
|
|
NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)
|
|
|
NM_182961.4(SYNE1):c.2992C>T (p.Gln998Ter)
|
rs2154254291
|
|
NM_182961.4(SYNE1):c.3023G>A (p.Trp1008Ter)
|
rs1564136499
|
|
NM_182961.4(SYNE1):c.3130C>T (p.Arg1044Ter)
|
rs757719808
|
|
NM_182961.4(SYNE1):c.3173_3176del (p.Ile1058fs)
|
|
|
NM_182961.4(SYNE1):c.3266del (p.Pro1089fs)
|
rs1442714301
|
|
NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer)
|
rs1554721227
|
|
NM_182961.4(SYNE1):c.3641_3651del (p.Phe1214fs)
|
|
|
NM_182961.4(SYNE1):c.3769del (p.Glu1257fs)
|
rs2154239396
|
|
NM_182961.4(SYNE1):c.3842del (p.Lys1281fs)
|
rs1554709875
|
|
NM_182961.4(SYNE1):c.4044_4047del (p.Asn1348fs)
|
rs2098527248
|
|
NM_182961.4(SYNE1):c.4327del (p.Met1443fs)
|
|
|
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs)
|
rs794727577
|
|
NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter)
|
rs757744079
|
|
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter)
|
rs988770583
|
|
NM_182961.4(SYNE1):c.4609C>T (p.Arg1537Ter)
|
rs983431074
|
|
NM_182961.4(SYNE1):c.482_483del (p.Ser160_Ser161insTer)
|
rs1554829141
|
|
NM_182961.4(SYNE1):c.4908C>A (p.Tyr1636Ter)
|
rs771955377
|
|
NM_182961.4(SYNE1):c.4939C>T (p.Gln1647Ter)
|
rs1554681651
|
|
NM_182961.4(SYNE1):c.4975_4976+8del
|
rs1592490234
|
|
NM_182961.4(SYNE1):c.5098C>T (p.Gln1700Ter)
|
rs1563941569
|
|
NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter)
|
rs1554676394
|
|
NM_182961.4(SYNE1):c.5237G>A (p.Trp1746Ter)
|
rs2154194664
|
|
NM_182961.4(SYNE1):c.5246_5256del (p.Leu1749fs)
|
|
|
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter)
|
rs1466752822
|
|
NM_182961.4(SYNE1):c.5525dup (p.Gln1843fs)
|
rs2154182611
|
|
NM_182961.4(SYNE1):c.5594_5597del (p.Leu1865fs)
|
rs2154182475
|
|
NM_182961.4(SYNE1):c.560G>A (p.Trp187Ter)
|
|
|
NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
|
|
|
NM_182961.4(SYNE1):c.5895del (p.Leu1966fs)
|
rs2098158268
|
|
NM_182961.4(SYNE1):c.6050+1G>A
|
|
|
NM_182961.4(SYNE1):c.6226G>T (p.Glu2076Ter)
|
rs2098101022
|
|
NM_182961.4(SYNE1):c.6376del (p.Ser2126fs)
|
rs2154170060
|
|
NM_182961.4(SYNE1):c.639del (p.His214fs)
|
rs1412791793
|
|
NM_182961.4(SYNE1):c.6628G>T (p.Glu2210Ter)
|
rs1417491327
|
|
NM_182961.4(SYNE1):c.67+1G>A
|
rs1213042460
|
|
NM_182961.4(SYNE1):c.67+1G>T
|
rs1213042460
|
|
NM_182961.4(SYNE1):c.6724-1G>A
|
rs2154157186
|
|
NM_182961.4(SYNE1):c.6868G>T (p.Glu2290Ter)
|
rs2154151091
|
|
NM_182961.4(SYNE1):c.6877del (p.Glu2293fs)
|
rs797046026
|
|
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter)
|
rs2154331501
|
|
NM_182961.4(SYNE1):c.7085dup (p.Asn2362fs)
|
rs2154147676
|
|
NM_182961.4(SYNE1):c.7402C>T (p.Gln2468Ter)
|
|
|
NM_182961.4(SYNE1):c.7691T>A (p.Leu2564Ter)
|
|
|
NM_182961.4(SYNE1):c.7911G>A (p.Trp2637Ter)
|
rs2154133792
|
|
NM_182961.4(SYNE1):c.8068C>T (p.Gln2690Ter)
|
|
|
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter)
|
rs946657984
|
|
NM_182961.4(SYNE1):c.8789G>A (p.Trp2930Ter)
|
rs2154115529
|
|
NM_182961.4(SYNE1):c.8866C>T (p.Gln2956Ter)
|
rs886042954
|
|
NM_182961.4(SYNE1):c.8885del (p.Val2962fs)
|
rs750544827
|
|
NM_182961.4(SYNE1):c.8890C>T (p.Gln2964Ter)
|
rs1554588688
|
|
NM_182961.4(SYNE1):c.9082C>T (p.Arg3028Ter)
|
rs369163343
|
|
NM_182961.4(SYNE1):c.9319del (p.Ile3107fs)
|
|
|
NM_182961.4(SYNE1):c.99del (p.Phe33fs)
|
|
|
NM_182961.4(SYNE1):c.[20263C>T;8889del]
|
|
|