NM_003079.5(SMARCE1):c.1133C>T (p.Ala378Val)
|
rs771281023
|
0.00006
|
NM_003079.5(SMARCE1):c.872A>G (p.Gln291Arg)
|
rs1307270981
|
0.00003
|
NM_003079.5(SMARCE1):c.443G>A (p.Arg148His)
|
rs755039445
|
0.00002
|
NM_003079.5(SMARCE1):c.490A>G (p.Met164Val)
|
rs752296357
|
0.00002
|
NM_003079.5(SMARCE1):c.1015C>G (p.Pro339Ala)
|
rs1025768618
|
0.00001
|
NM_003079.5(SMARCE1):c.1027+5C>G
|
rs771556643
|
0.00001
|
NM_003079.5(SMARCE1):c.1039C>G (p.Leu347Val)
|
rs267604854
|
0.00001
|
NM_003079.5(SMARCE1):c.1042G>A (p.Glu348Lys)
|
rs754993965
|
0.00001
|
NM_003079.5(SMARCE1):c.1090C>T (p.Pro364Ser)
|
rs1205865722
|
0.00001
|
NM_003079.5(SMARCE1):c.1145C>T (p.Thr382Ile)
|
rs1314554797
|
0.00001
|
NM_003079.5(SMARCE1):c.1148G>A (p.Ser383Asn)
|
rs1555605079
|
0.00001
|
NM_003079.5(SMARCE1):c.1159A>C (p.Thr387Pro)
|
rs1270010378
|
0.00001
|
NM_003079.5(SMARCE1):c.1213C>G (p.Pro405Ala)
|
rs767835921
|
0.00001
|
NM_003079.5(SMARCE1):c.157-5C>T
|
rs776664220
|
0.00001
|
NM_003079.5(SMARCE1):c.26C>T (p.Pro9Leu)
|
rs1415603265
|
0.00001
|
NM_003079.5(SMARCE1):c.455C>T (p.Ala152Val)
|
rs781231331
|
0.00001
|
NM_003079.5(SMARCE1):c.487C>T (p.Arg163Cys)
|
rs190432371
|
0.00001
|
NM_003079.5(SMARCE1):c.515G>A (p.Ser172Asn)
|
rs2037142277
|
0.00001
|
NM_003079.5(SMARCE1):c.544T>G (p.Tyr182Asp)
|
rs1429023644
|
0.00001
|
NM_003079.5(SMARCE1):c.562A>G (p.Met188Val)
|
rs765003978
|
0.00001
|
NM_003079.5(SMARCE1):c.580G>A (p.Ala194Thr)
|
rs753397709
|
0.00001
|
NM_003079.5(SMARCE1):c.647G>A (p.Arg216Gln)
|
rs1213211505
|
0.00001
|
NM_003079.5(SMARCE1):c.716G>A (p.Arg239Gln)
|
rs1240408861
|
0.00001
|
NM_003079.5(SMARCE1):c.741A>C (p.Gln247His)
|
rs1356231337
|
0.00001
|
NM_003079.5(SMARCE1):c.784A>G (p.Ser262Gly)
|
rs1432681998
|
0.00001
|
NM_003079.5(SMARCE1):c.817-3T>C
|
rs779984224
|
0.00001
|
NM_003079.5(SMARCE1):c.932C>T (p.Ala311Val)
|
rs768536854
|
0.00001
|
NM_003079.5(SMARCE1):c.943C>G (p.Gln315Glu)
|
rs1597742452
|
0.00001
|
NM_003079.5(SMARCE1):c.958C>T (p.Pro320Ser)
|
rs1176390337
|
0.00001
|
NM_003079.5(SMARCE1):c.987C>T (p.Gly329=)
|
rs779268474
|
0.00001
|
NM_003079.5(SMARCE1):c.1008G>C (p.Glu336Asp)
|
rs1323477202
|
|
NM_003079.5(SMARCE1):c.1009A>T (p.Asn337Tyr)
|
rs2037085057
|
|
NM_003079.5(SMARCE1):c.1012A>G (p.Ile338Val)
|
rs759470808
|
|
NM_003079.5(SMARCE1):c.1015C>T (p.Pro339Ser)
|
|
|
NM_003079.5(SMARCE1):c.1018A>T (p.Met340Leu)
|
|
|
NM_003079.5(SMARCE1):c.1027+5C>T
|
|
|
NM_003079.5(SMARCE1):c.1028-3C>T
|
|
|
NM_003079.5(SMARCE1):c.1052C>T (p.Thr351Ile)
|
rs932391748
|
|
NM_003079.5(SMARCE1):c.1057_1058del (p.Ser353fs)
|
|
|
NM_003079.5(SMARCE1):c.1067A>C (p.Asn356Thr)
|
|
|
NM_003079.5(SMARCE1):c.107A>G (p.Tyr36Cys)
|
|
|
NM_003079.5(SMARCE1):c.1080C>T (p.Gly360=)
|
rs2143980767
|
|
NM_003079.5(SMARCE1):c.1084T>G (p.Ser362Ala)
|
|
|
NM_003079.5(SMARCE1):c.1086_1087delinsAT (p.Thr363Ser)
|
rs2037062544
|
|
NM_003079.5(SMARCE1):c.1087A>G (p.Thr363Ala)
|
rs1555605096
|
|
NM_003079.5(SMARCE1):c.1087A>T (p.Thr363Ser)
|
|
|
NM_003079.5(SMARCE1):c.1090C>G (p.Pro364Ala)
|
rs1205865722
|
|
NM_003079.5(SMARCE1):c.1090_1092del (p.Pro364del)
|
rs1555605093
|
|
NM_003079.5(SMARCE1):c.1093G>A (p.Glu365Lys)
|
|
|
NM_003079.5(SMARCE1):c.1099A>T (p.Lys367Ter)
|
|
|
NM_003079.5(SMARCE1):c.1104G>C (p.Glu368Asp)
|
rs2037062159
|
|
NM_003079.5(SMARCE1):c.1106G>A (p.Ser369Asn)
|
|
|
NM_003079.5(SMARCE1):c.1108G>A (p.Gly370Arg)
|
rs2143980642
|
|
NM_003079.5(SMARCE1):c.1109G>A (p.Gly370Glu)
|
rs2037062100
|
|
NM_003079.5(SMARCE1):c.1109G>T (p.Gly370Val)
|
rs2037062100
|
|
NM_003079.5(SMARCE1):c.1115A>T (p.Glu372Val)
|
|
|
NM_003079.5(SMARCE1):c.112A>T (p.Asn38Tyr)
|
|
|
NM_003079.5(SMARCE1):c.1135_1138del (p.Glu379fs)
|
rs1597741244
|
|
NM_003079.5(SMARCE1):c.113A>G (p.Asn38Ser)
|
rs915901827
|
|
NM_003079.5(SMARCE1):c.1141G>A (p.Gly381Arg)
|
|
|
NM_003079.5(SMARCE1):c.1160C>T (p.Thr387Ile)
|
|
|
NM_003079.5(SMARCE1):c.1177A>G (p.Ser393Gly)
|
rs775907713
|
|
NM_003079.5(SMARCE1):c.1183A>G (p.Thr395Ala)
|
|
|
NM_003079.5(SMARCE1):c.1195C>G (p.Pro399Ala)
|
rs2037060453
|
|
NM_003079.5(SMARCE1):c.1196C>T (p.Pro399Leu)
|
rs1397941319
|
|
NM_003079.5(SMARCE1):c.1204G>A (p.Asp402Asn)
|
rs1597741187
|
|
NM_003079.5(SMARCE1):c.1207C>G (p.Pro403Ala)
|
|
|
NM_003079.5(SMARCE1):c.1211T>C (p.Ile404Thr)
|
|
|
NM_003079.5(SMARCE1):c.1214C>T (p.Pro405Leu)
|
|
|
NM_003079.5(SMARCE1):c.1219G>A (p.Asp407Asn)
|
rs139178605
|
|
NM_003079.5(SMARCE1):c.1220A>G (p.Asp407Gly)
|
|
|
NM_003079.5(SMARCE1):c.1222G>A (p.Glu408Lys)
|
rs1487515718
|
|
NM_003079.5(SMARCE1):c.1233A>G (p.Glu411=)
|
rs1555605056
|
|
NM_003079.5(SMARCE1):c.133C>T (p.Pro45Ser)
|
rs1597749741
|
|
NM_003079.5(SMARCE1):c.142A>G (p.Asn48Asp)
|
|
|
NM_003079.5(SMARCE1):c.149G>A (p.Arg50Gln)
|
rs1060501394
|
|
NM_003079.5(SMARCE1):c.151G>A (p.Val51Ile)
|
rs1555606273
|
|
NM_003079.5(SMARCE1):c.152T>C (p.Val51Ala)
|
rs1597749716
|
|
NM_003079.5(SMARCE1):c.156+4G>T
|
|
|
NM_003079.5(SMARCE1):c.166G>A (p.Gly56Ser)
|
|
|
NM_003079.5(SMARCE1):c.175A>T (p.Ile59Phe)
|
rs2143999589
|
|
NM_003079.5(SMARCE1):c.1dup (p.Met1fs)
|
rs2144015619
|
|
NM_003079.5(SMARCE1):c.206C>A (p.Pro69Gln)
|
|
|
NM_003079.5(SMARCE1):c.22G>A (p.Ala8Thr)
|
|
|
NM_003079.5(SMARCE1):c.237+3A>G
|
rs2143999496
|
|
NM_003079.5(SMARCE1):c.250G>A (p.Val84Ile)
|
|
|
NM_003079.5(SMARCE1):c.322A>G (p.Thr108Ala)
|
|
|
NM_003079.5(SMARCE1):c.331G>C (p.Glu111Gln)
|
rs878854601
|
|
NM_003079.5(SMARCE1):c.332A>G (p.Glu111Gly)
|
rs2037146794
|
|
NM_003079.5(SMARCE1):c.341A>T (p.Glu114Val)
|
|
|
NM_003079.5(SMARCE1):c.346T>G (p.Leu116Val)
|
|
|
NM_003079.5(SMARCE1):c.34A>C (p.Thr12Pro)
|
rs2037247946
|
|
NM_003079.5(SMARCE1):c.369+4G>A
|
rs1597746280
|
|
NM_003079.5(SMARCE1):c.369+5G>A
|
rs2037146547
|
|
NM_003079.5(SMARCE1):c.370-3C>T
|
|
|
NM_003079.5(SMARCE1):c.370-6T>C
|
rs1060501397
|
|
NM_003079.5(SMARCE1):c.370A>T (p.Ile124Leu)
|
|
|
NM_003079.5(SMARCE1):c.37C>T (p.Pro13Ser)
|
rs1398882535
|
|
NM_003079.5(SMARCE1):c.394G>A (p.Ala132Thr)
|
|
|
NM_003079.5(SMARCE1):c.406T>C (p.Ser136Pro)
|
|
|
NM_003079.5(SMARCE1):c.409C>T (p.Pro137Ser)
|
rs2143996465
|
|
NM_003079.5(SMARCE1):c.413C>T (p.Ala138Val)
|
|
|
NM_003079.5(SMARCE1):c.421G>A (p.Ala141Thr)
|
rs2037143160
|
|
NM_003079.5(SMARCE1):c.43C>A (p.Pro15Thr)
|
|
|
NM_003079.5(SMARCE1):c.442C>T (p.Arg148Cys)
|
rs147065057
|
|
NM_003079.5(SMARCE1):c.482A>G (p.Gln161Arg)
|
rs1555605748
|
|
NM_003079.5(SMARCE1):c.484T>A (p.Ser162Thr)
|
rs878854602
|
|
NM_003079.5(SMARCE1):c.508T>C (p.Tyr170His)
|
|
|
NM_003079.5(SMARCE1):c.512T>C (p.Met171Thr)
|
|
|
NM_003079.5(SMARCE1):c.52-3C>T
|
|
|
NM_003079.5(SMARCE1):c.538G>A (p.Asp180Asn)
|
rs1597746024
|
|
NM_003079.5(SMARCE1):c.539A>G (p.Asp180Gly)
|
|
|
NM_003079.5(SMARCE1):c.541+1G>A
|
rs1597746020
|
|
NM_003079.5(SMARCE1):c.541+3A>G
|
rs1555605737
|
|
NM_003079.5(SMARCE1):c.547G>A (p.Asp183Asn)
|
rs2037103551
|
|
NM_003079.5(SMARCE1):c.572C>A (p.Thr191Lys)
|
|
|
NM_003079.5(SMARCE1):c.577A>G (p.Thr193Ala)
|
|
|
NM_003079.5(SMARCE1):c.590A>G (p.Gln197Arg)
|
rs1597743632
|
|
NM_003079.5(SMARCE1):c.602G>A (p.Arg201His)
|
rs761299232
|
|
NM_003079.5(SMARCE1):c.611G>A (p.Ser204Asn)
|
|
|
NM_003079.5(SMARCE1):c.662C>T (p.Thr221Ile)
|
|
|
NM_003079.5(SMARCE1):c.679C>G (p.Leu227Val)
|
|
|
NM_003079.5(SMARCE1):c.683A>C (p.Lys228Thr)
|
|
|
NM_003079.5(SMARCE1):c.683A>G (p.Lys228Arg)
|
rs2037102487
|
|
NM_003079.5(SMARCE1):c.686G>A (p.Arg229Gln)
|
rs768981981
|
|
NM_003079.5(SMARCE1):c.68C>A (p.Pro23Gln)
|
|
|
NM_003079.5(SMARCE1):c.68C>G (p.Pro23Arg)
|
rs2144009244
|
|
NM_003079.5(SMARCE1):c.695A>G (p.Gln232Arg)
|
|
|
NM_003079.5(SMARCE1):c.706G>A (p.Val236Ile)
|
rs745924628
|
|
NM_003079.5(SMARCE1):c.715-3C>G
|
|
|
NM_003079.5(SMARCE1):c.715-4G>A
|
|
|
NM_003079.5(SMARCE1):c.71G>C (p.Gly24Ala)
|
|
|
NM_003079.5(SMARCE1):c.734TTC[1] (p.Leu246del)
|
|
|
NM_003079.5(SMARCE1):c.750A>C (p.Glu250Asp)
|
rs1555605350
|
|
NM_003079.5(SMARCE1):c.752G>A (p.Arg251Gln)
|
|
|
NM_003079.5(SMARCE1):c.761AGA[2] (p.Lys256del)
|
rs769002311
|
|
NM_003079.5(SMARCE1):c.767A>C (p.Lys256Thr)
|
rs542193901
|
|
NM_003079.5(SMARCE1):c.770G>A (p.Arg257Lys)
|
|
|
NM_003079.5(SMARCE1):c.783A>T (p.Glu261Asp)
|
rs2143986944
|
|
NM_003079.5(SMARCE1):c.802A>G (p.Asn268Asp)
|
|
|
NM_003079.5(SMARCE1):c.816+1G>A
|
|
|
NM_003079.5(SMARCE1):c.816G>T (p.Arg272Ser)
|
rs2037096217
|
|
NM_003079.5(SMARCE1):c.820T>C (p.Cys274Arg)
|
|
|
NM_003079.5(SMARCE1):c.824G>A (p.Gly275Asp)
|
rs1555605260
|
|
NM_003079.5(SMARCE1):c.830A>C (p.Lys277Thr)
|
|
|
NM_003079.5(SMARCE1):c.833T>C (p.Val278Ala)
|
rs2143985196
|
|
NM_003079.5(SMARCE1):c.844A>G (p.Met282Val)
|
rs1597742553
|
|
NM_003079.5(SMARCE1):c.847G>C (p.Glu283Gln)
|
|
|
NM_003079.5(SMARCE1):c.853A>G (p.Ile285Val)
|
rs2143985147
|
|
NM_003079.5(SMARCE1):c.856G>A (p.Ala286Thr)
|
rs751048883
|
|
NM_003079.5(SMARCE1):c.86A>G (p.Asn29Ser)
|
rs760888905
|
|
NM_003079.5(SMARCE1):c.875C>T (p.Ala292Val)
|
|
|
NM_003079.5(SMARCE1):c.880G>A (p.Glu294Lys)
|
rs2143985056
|
|
NM_003079.5(SMARCE1):c.887C>G (p.Ala296Gly)
|
rs2037087035
|
|
NM_003079.5(SMARCE1):c.889C>G (p.Arg297Gly)
|
rs562702157
|
|
NM_003079.5(SMARCE1):c.890G>A (p.Arg297His)
|
rs1172017371
|
|
NM_003079.5(SMARCE1):c.890_891delinsCT (p.Arg297Pro)
|
|
|
NM_003079.5(SMARCE1):c.896G>A (p.Arg299Lys)
|
|
|
NM_003079.5(SMARCE1):c.906A>C (p.Glu302Asp)
|
rs760713355
|
|
NM_003079.5(SMARCE1):c.913_915del (p.Lys305del)
|
rs770456331
|
|
NM_003079.5(SMARCE1):c.914A>G (p.Lys305Arg)
|
|
|
NM_003079.5(SMARCE1):c.917A>T (p.Glu306Val)
|
|
|
NM_003079.5(SMARCE1):c.940A>G (p.Ser314Gly)
|
|
|
NM_003079.5(SMARCE1):c.944A>G (p.Gln315Arg)
|
rs1444576393
|
|
NM_003079.5(SMARCE1):c.950G>T (p.Ser317Ile)
|
|
|
NM_003079.5(SMARCE1):c.95G>A (p.Ser32Asn)
|
rs1597749777
|
|
NM_003079.5(SMARCE1):c.967G>A (p.Glu323Lys)
|
|
|
NM_003079.5(SMARCE1):c.971A>G (p.Gln324Arg)
|
|
|
NM_003079.5(SMARCE1):c.979A>G (p.Asn327Asp)
|
|
|
NM_003079.5(SMARCE1):c.985G>A (p.Gly329Ser)
|
|
|
NM_003079.5(SMARCE1):c.986G>T (p.Gly329Val)
|
|
|
NM_003079.5(SMARCE1):c.988GAG[1] (p.Glu331del)
|
|
|
NM_003079.5(SMARCE1):c.989A>G (p.Glu330Gly)
|
|
|
NM_003079.5(SMARCE1):c.990_1004del (p.Glu330_Asp334del)
|
rs2143984558
|
|
NM_003079.5(SMARCE1):c.995A>C (p.Lys332Thr)
|
rs766656583
|
|
NM_003079.5(SMARCE1):c.997_999delinsGAC (p.Lys333Asp)
|
|
|