NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter)
|
rs967105970
|
0.00011
|
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_001159699.2(FHL1):c.812G>C (p.Cys271Ser)
|
rs869025431
|
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.25009C>T (p.Gln8337Ter)
|
rs797046025
|
0.00001
|
NM_182961.4(SYNE1):c.661C>T (p.Arg221Ter)
|
rs750266004
|
0.00001
|
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter)
|
rs119103243
|
0.00001
|
NC_000006.11:g.(?_152485278)_(152485480_?)del
|
|
|
NC_000006.11:g.(?_152650845)_(152653045_?)del
|
|
|
NC_000006.11:g.(?_152949380)_(154441965_?)del
|
|
|
NC_000006.12:g.(?_152122416)_(153426916_?)del
|
|
|
NC_000023.10:g.(?_135284455)_(135289168_?)del
|
|
|
NC_000023.10:g.(?_135288556)_(135293528_?)del
|
|
|
NC_000023.10:g.(?_135288592)_(135741574_?)del
|
|
|
NC_000023.10:g.(?_152014869)_(155171615_?)del
|
|
|
NC_000023.10:g.(?_152954030)_(154005142_?)del
|
|
|
NC_000023.10:g.(?_152990712)_(153650075_?)del
|
|
|
NC_000023.10:g.(?_153607393)_(153608624_?)del
|
|
|
NC_000023.10:g.(?_153607825)_(153609577_?)del
|
|
|
NC_000023.10:g.(?_153607835)_(153609567_?)del
|
|
|
NC_000023.10:g.(?_153609093)_(153609182_?)del
|
|
|
NM_000117.3(EMD):c.102C>G (p.Tyr34Ter)
|
rs2148128122
|
|
NM_000117.3(EMD):c.116_143del (p.Phe39fs)
|
rs1569552080
|
|
NM_000117.3(EMD):c.121_155del (p.Tyr41fs)
|
rs1557182286
|
|
NM_000117.3(EMD):c.123C>A (p.Tyr41Ter)
|
rs1060502612
|
|
NM_000117.3(EMD):c.12C>G (p.Tyr4Ter)
|
rs782011714
|
|
NM_000117.3(EMD):c.130C>T (p.Gln44Ter)
|
rs132630262
|
|
NM_000117.3(EMD):c.135dup (p.Arg46fs)
|
rs1557182301
|
|
NM_000117.3(EMD):c.143dup (p.Ser49fs)
|
|
|
NM_000117.3(EMD):c.153del (p.Ser52fs)
|
rs876661345
|
|
NM_000117.3(EMD):c.153dup (p.Ser52fs)
|
rs876661345
|
|
NM_000117.3(EMD):c.187+1G>A
|
rs794729010
|
|
NM_000117.3(EMD):c.187+1G>T
|
rs794729010
|
|
NM_000117.3(EMD):c.187+2T>G
|
|
|
NM_000117.3(EMD):c.1A>G (p.Met1Val)
|
rs267606782
|
|
NM_000117.3(EMD):c.217_218dup (p.Met73fs)
|
rs1557182364
|
|
NM_000117.3(EMD):c.236_239del (p.Lys79fs)
|
|
|
NM_000117.3(EMD):c.251_255del (p.Leu84fs)
|
rs782452523
|
|
NM_000117.3(EMD):c.256C>T (p.Gln86Ter)
|
|
|
NM_000117.3(EMD):c.262A>T (p.Lys88Ter)
|
|
|
NM_000117.3(EMD):c.266-2A>G
|
rs727503036
|
|
NM_000117.3(EMD):c.266-3A>G
|
rs2148128459
|
|
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)
|
|
|
NM_000117.3(EMD):c.2T>G (p.Met1Arg)
|
rs2148127941
|
|
NM_000117.3(EMD):c.391_397dup (p.Gln133fs)
|
|
|
NM_000117.3(EMD):c.397C>T (p.Gln133Ter)
|
|
|
NM_000117.3(EMD):c.399+1G>T
|
rs2148128554
|
|
NM_000117.3(EMD):c.399+2T>C
|
|
|
NM_000117.3(EMD):c.3G>A (p.Met1Ile)
|
rs886044771
|
|
NM_000117.3(EMD):c.430G>T (p.Glu144Ter)
|
rs1557182560
|
|
NM_000117.3(EMD):c.439_449+3del
|
|
|
NM_000117.3(EMD):c.450-2A>G
|
rs398123158
|
|
NM_000117.3(EMD):c.475_476del (p.Ser159fs)
|
rs2067883871
|
|
NM_000117.3(EMD):c.483C>G (p.Tyr161Ter)
|
rs2148128811
|
|
NM_000117.3(EMD):c.484C>T (p.Gln162Ter)
|
rs1557182611
|
|
NM_000117.3(EMD):c.512C>A (p.Ser171Ter)
|
rs886044901
|
|
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer)
|
rs794729019
|
|
NM_000117.3(EMD):c.546T>A (p.Tyr182Ter)
|
|
|
NM_000117.3(EMD):c.548C>A (p.Pro183His)
|
rs104894805
|
|
NM_000117.3(EMD):c.561_567dup (p.Phe190fs)
|
rs2148128862
|
|
NM_000117.3(EMD):c.570del (p.Phe190fs)
|
rs2148128871
|
|
NM_000117.3(EMD):c.570dup (p.Met191fs)
|
rs2148128871
|
|
NM_000117.3(EMD):c.581C>G (p.Ser194Ter)
|
|
|
NM_000117.3(EMD):c.581_582del (p.Ser194fs)
|
rs1557182654
|
|
NM_000117.3(EMD):c.600G>A (p.Trp200Ter)
|
rs1557182661
|
|
NM_000117.3(EMD):c.607del (p.Arg203fs)
|
rs1569552106
|
|
NM_000117.3(EMD):c.60del (p.Asn20fs)
|
rs886041854
|
|
NM_000117.3(EMD):c.619del (p.Arg207fs)
|
rs2067885544
|
|
NM_000117.3(EMD):c.621del (p.Pro208fs)
|
rs1557182670
|
|
NM_000117.3(EMD):c.640_644dup (p.Gln219fs)
|
rs1557182676
|
|
NM_000117.3(EMD):c.643_653dup (p.Gln219fs)
|
rs2148128961
|
|
NM_000117.3(EMD):c.643del (p.Ala215fs)
|
|
|
NM_000117.3(EMD):c.650_654del (p.Leu217fs)
|
rs730880352
|
|
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)
|
rs730880352
|
|
NM_000117.3(EMD):c.651_655dup (p.Gln219fs)
|
|
|
NM_000117.3(EMD):c.674del (p.Leu225fs)
|
|
|
NM_000117.3(EMD):c.676_677del (p.Trp226fs)
|
|
|
NM_000117.3(EMD):c.77dup (p.Val27fs)
|
rs2067873691
|
|
NM_000117.3(EMD):c.79del (p.Val26_Val27insTer)
|
|
|
NM_000117.3(EMD):c.83-2A>C
|
rs727504901
|
|
NM_001159699.2(FHL1):c.104dup (p.Tyr35Ter)
|
|
|
NM_001159699.2(FHL1):c.108del (p.Gln37fs)
|
rs1060502840
|
|
NM_001159699.2(FHL1):c.156T>A (p.Cys52Ter)
|
|
|
NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter)
|
rs2073860048
|
|
NM_001159699.2(FHL1):c.243C>A (p.Cys81Ter)
|
rs777580253
|
|
NM_001159699.2(FHL1):c.263_276del (p.Leu88fs)
|
|
|
NM_001159699.2(FHL1):c.288del (p.Phe96fs)
|
rs2148373432
|
|
NM_001159699.2(FHL1):c.331dup (p.Arg111fs)
|
|
|
NM_001159699.2(FHL1):c.339dup (p.Ser114fs)
|
|
|
NM_001159699.2(FHL1):c.349T>C (p.Cys117Arg)
|
rs2073864792
|
|
NM_001159699.2(FHL1):c.360dup (p.Phe121fs)
|
rs1556638935
|
|
NM_001159699.2(FHL1):c.379+1G>A
|
rs2073866799
|
|
NM_001159699.2(FHL1):c.379+2T>G
|
|
|
NM_001159699.2(FHL1):c.393_394dup (p.Glu132fs)
|
|
|
NM_001159699.2(FHL1):c.406_409dup (p.Val137fs)
|
rs1569530437
|
|
NM_001159699.2(FHL1):c.413G>A (p.Trp138Ter)
|
rs122458140
|
|
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys)
|
rs1556639109
|
|
NM_001159699.2(FHL1):c.414del (p.Trp138fs)
|
rs2148375686
|
|
NM_001159699.2(FHL1):c.416A>G (p.His139Arg)
|
rs267606812
|
|
NM_001159699.2(FHL1):c.417C>A (p.His139Gln)
|
rs267606813
|
|
NM_001159699.2(FHL1):c.417C>G (p.His139Gln)
|
rs267606813
|
|
NM_001159699.2(FHL1):c.419_420del (p.Lys140fs)
|
rs2073885767
|
|
NM_001159699.2(FHL1):c.441del (p.Cys148fs)
|
rs2148375860
|
|
NM_001159699.2(FHL1):c.466_470del (p.Ser156fs)
|
rs1556639151
|
|
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)
|
rs1603271659
|
|
NM_001159699.2(FHL1):c.497G>A (p.Cys166Tyr)
|
rs122459146
|
|
NM_001159699.2(FHL1):c.505T>A (p.Cys169Ser)
|
rs122458144
|
|
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg)
|
rs122458144
|
|
NM_001159699.2(FHL1):c.507C>G (p.Cys169Trp)
|
|
|
NM_001159699.2(FHL1):c.518del (p.Lys173fs)
|
|
|
NM_001159699.2(FHL1):c.55G>T (p.Glu19Ter)
|
rs2148371451
|
|
NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter)
|
rs1603272191
|
|
NM_001159699.2(FHL1):c.590G>A (p.Trp197Ter)
|
rs1191211949
|
|
NM_001159699.2(FHL1):c.606dup (p.Val203fs)
|
|
|
NM_001159699.2(FHL1):c.613_614del (p.Val205fs)
|
rs1569530588
|
|
NM_001159699.2(FHL1):c.618del (p.Cys207fs)
|
rs2148378462
|
|
NM_001159699.2(FHL1):c.640C>T (p.Gln214Ter)
|
rs1603272223
|
|
NM_001159699.2(FHL1):c.644_650dup (p.Ala218fs)
|
rs2073913069
|
|
NM_001159699.2(FHL1):c.661dup (p.Asp221fs)
|
rs1556639379
|
|
NM_001159699.2(FHL1):c.664C>T (p.Gln222Ter)
|
|
|
NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs)
|
rs1603272263
|
|
NM_001159699.2(FHL1):c.671dup (p.Tyr224Ter)
|
|
|
NM_001159699.2(FHL1):c.672C>G (p.Tyr224Ter)
|
|
|
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg)
|
rs122459149
|
|
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)
|
rs122458141
|
|
NM_001159699.2(FHL1):c.736+1G>C
|
rs786200914
|
|
NM_001159699.2(FHL1):c.736+2T>G
|
rs2073916521
|
|
NM_001159699.2(FHL1):c.792C>G (p.Tyr264Ter)
|
|
|
NM_001159699.2(FHL1):c.797dup (p.His267fs)
|
|
|
NM_001159699.2(FHL1):c.801delinsAA (p.His267fs)
|
|
|
NM_001159699.2(FHL1):c.810dup (p.Cys271fs)
|
rs2073964376
|
|
NM_001159699.2(FHL1):c.812dup (p.Cys271fs)
|
|
|
NM_001159699.2(FHL1):c.831del (p.Asn277fs)
|
|
|
NM_001159699.2(FHL1):c.834dup (p.Arg279fs)
|
|
|
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs)
|
rs1603273685
|
|
NM_001159699.2(FHL1):c.853G>T (p.Glu285Ter)
|
|
|
NM_001159699.2(FHL1):c.855dup (p.Gln286fs)
|
|
|
NM_001159699.2(FHL1):c.856C>T (p.Gln286Ter)
|
|
|
NM_001159699.2(FHL1):c.857_870dup (p.Asp291fs)
|
|
|
NM_001159699.2(FHL1):c.863_864dup (p.Cys289fs)
|
rs2148383945
|
|
NM_001159699.2(FHL1):c.875G>A (p.Cys292Tyr)
|
rs2148384040
|
|
NM_001347702.2(SYNE1):c.1473T>G (p.Tyr491Ter)
|
|
|
NM_182961.4(SYNE1):c.10414C>T (p.Arg3472Ter)
|
rs2096893099
|
|
NM_182961.4(SYNE1):c.10492C>T (p.Gln3498Ter)
|
|
|
NM_182961.4(SYNE1):c.1171A>T (p.Arg391Ter)
|
|
|
NM_182961.4(SYNE1):c.1172del (p.Arg391fs)
|
|
|
NM_182961.4(SYNE1):c.1219_1220del (p.Leu407fs)
|
rs1564367104
|
|
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.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.15304C>T (p.Gln5102Ter)
|
rs1270730854
|
|
NM_182961.4(SYNE1):c.15586C>T (p.Arg5196Ter)
|
|
|
NM_182961.4(SYNE1):c.15681_15684del (p.Asp5228fs)
|
rs1291249200
|
|
NM_182961.4(SYNE1):c.1584del (p.Lys529fs)
|
|
|
NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter)
|
rs781354327
|
|
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter)
|
rs772587027
|
|
NM_182961.4(SYNE1):c.16390-2A>C
|
rs759460806
|
|
NM_182961.4(SYNE1):c.16390-2A>G
|
rs759460806
|
|
NM_182961.4(SYNE1):c.16501_16504del (p.Ile5501fs)
|
|
|
NM_182961.4(SYNE1):c.16815_16821dup (p.Glu5608fs)
|
rs886043923
|
|
NM_182961.4(SYNE1):c.16840G>T (p.Glu5614Ter)
|
rs777656140
|
|
NM_182961.4(SYNE1):c.16882C>T (p.Gln5628Ter)
|
rs2153836962
|
|
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter)
|
rs746328978
|
|
NM_182961.4(SYNE1):c.17284G>T (p.Glu5762Ter)
|
|
|
NM_182961.4(SYNE1):c.17373C>A (p.Tyr5791Ter)
|
|
|
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.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.18940C>T (p.Gln6314Ter)
|
|
|
NM_182961.4(SYNE1):c.18948dup (p.Leu6317fs)
|
|
|
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.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.20436del (p.Gln6812fs)
|
|
|
NM_182961.4(SYNE1):c.21072G>A (p.Trp7024Ter)
|
|
|
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.225+1del
|
rs2154353746
|
|
NM_182961.4(SYNE1):c.23068C>T (p.Arg7690Ter)
|
rs749432519
|
|
NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)
|
|
|
NM_182961.4(SYNE1):c.24118A>T (p.Lys8040Ter)
|
|
|
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)
|
rs1586296730
|
|
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.25258C>T (p.Arg8420Ter)
|
|
|
NM_182961.4(SYNE1):c.25359G>A (p.Trp8453Ter)
|
|
|
NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter)
|
rs2098713648
|
|
NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)
|
|
|
NM_182961.4(SYNE1):c.25888G>T (p.Glu8630Ter)
|
|
|
NM_182961.4(SYNE1):c.2992C>T (p.Gln998Ter)
|
rs2154254291
|
|
NM_182961.4(SYNE1):c.3173_3176del (p.Ile1058fs)
|
|
|
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.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.4975_4976+8del
|
rs1592490234
|
|
NM_182961.4(SYNE1):c.5237G>A (p.Trp1746Ter)
|
rs2154194664
|
|
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter)
|
rs1466752822
|
|
NM_182961.4(SYNE1):c.5525dup (p.Gln1843fs)
|
rs2154182611
|
|
NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
|
|
|
NM_182961.4(SYNE1):c.5895del (p.Leu1966fs)
|
rs2098158268
|
|
NM_182961.4(SYNE1):c.6128del (p.Lys2043fs)
|
|
|
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.6868G>T (p.Glu2290Ter)
|
rs2154151091
|
|
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter)
|
rs2154331501
|
|
NM_182961.4(SYNE1):c.7402C>T (p.Gln2468Ter)
|
|
|
NM_182961.4(SYNE1):c.7691T>A (p.Leu2564Ter)
|
|
|
NM_182961.4(SYNE1):c.8068C>T (p.Gln2690Ter)
|
|
|
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter)
|
rs946657984
|
|
NM_182961.4(SYNE1):c.8636del (p.Lys2879fs)
|
rs2097516516
|
|
NM_182961.4(SYNE1):c.8789G>A (p.Trp2930Ter)
|
rs2154115529
|
|
NM_182961.4(SYNE1):c.8885del (p.Val2962fs)
|
rs750544827
|
|
NM_182961.4(SYNE1):c.9319del (p.Ile3107fs)
|
|
|