NM_001122955.4(BSCL2):c.88-674G>T
|
rs549450153
|
0.00088
|
NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys)
|
rs201493373
|
0.00061
|
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg)
|
rs151018278
|
0.00036
|
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe)
|
rs147314661
|
0.00023
|
NM_001122955.4(BSCL2):c.131G>A (p.Gly44Asp)
|
rs769536524
|
0.00019
|
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=)
|
rs140208002
|
0.00019
|
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=)
|
rs370926100
|
0.00016
|
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr)
|
rs190842600
|
0.00014
|
NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile)
|
rs149412531
|
0.00013
|
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)
|
rs369806785
|
0.00011
|
NM_001122955.4(BSCL2):c.*49T>G
|
rs368144792
|
0.00010
|
NM_001122955.4(BSCL2):c.*58G>A
|
rs755714656
|
0.00010
|
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr)
|
rs10776
|
0.00010
|
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu)
|
rs767463971
|
0.00008
|
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg)
|
rs772516974
|
0.00006
|
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg)
|
rs138964424
|
0.00005
|
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu)
|
rs149907021
|
0.00004
|
NM_001122955.4(BSCL2):c.1234+14T>G
|
rs778380128
|
0.00004
|
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser)
|
rs369732238
|
0.00004
|
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys)
|
rs370905417
|
0.00004
|
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile)
|
rs754683462
|
0.00004
|
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys)
|
rs141518903
|
0.00003
|
NM_001122955.4(BSCL2):c.184C>T (p.Leu62Phe)
|
rs756907468
|
0.00003
|
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser)
|
rs751277966
|
0.00003
|
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu)
|
rs769219167
|
0.00003
|
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln)
|
rs202072835
|
0.00002
|
NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=)
|
rs766492897
|
0.00002
|
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His)
|
rs1057524897
|
0.00002
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln)
|
rs771322168
|
0.00002
|
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys)
|
rs144725547
|
0.00001
|
NM_001122955.4(BSCL2):c.1054A>G (p.Ile352Val)
|
rs775718358
|
0.00001
|
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser)
|
rs781022347
|
0.00001
|
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=)
|
rs113336810
|
0.00001
|
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg)
|
rs779682500
|
0.00001
|
NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val)
|
rs772442281
|
0.00001
|
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val)
|
rs141657385
|
0.00001
|
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp)
|
rs772832629
|
0.00001
|
NM_001122955.4(BSCL2):c.405-11A>G
|
rs1434874435
|
0.00001
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)
|
rs786205071
|
0.00001
|
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter)
|
rs137852970
|
0.00001
|
NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter)
|
rs137852975
|
0.00001
|
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro)
|
rs137852971
|
0.00001
|
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter)
|
rs587777606
|
0.00001
|
NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys)
|
rs773431994
|
0.00001
|
NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter)
|
rs137852974
|
|
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser)
|
rs1424325463
|
|
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del)
|
rs556562410
|
|
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe)
|
rs1590868109
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])
|
rs747175358
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3])
|
rs747175358
|
|
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala)
|
rs199584887
|
|
NM_001122955.4(BSCL2):c.1310C>T (p.Ala437Val)
|
rs751558047
|
|
NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr)
|
rs1945271930
|
|
NM_001122955.4(BSCL2):c.299G>A (p.Cys100Tyr)
|
|
|
NM_001122955.4(BSCL2):c.346_347dup (p.Tyr117fs)
|
rs1057517658
|
|
NM_001122955.4(BSCL2):c.358_376del (p.Tyr120fs)
|
|
|
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser)
|
rs1349958377
|
|
NM_001122955.4(BSCL2):c.384_385delinsGGA (p.Ser128fs)
|
rs786205068
|
|
NM_001122955.4(BSCL2):c.385delinsGGA (p.Pro129fs)
|
rs1057517659
|
|
NM_001122955.4(BSCL2):c.404G>C (p.Arg135Thr)
|
rs2083508651
|
|
NM_001122955.4(BSCL2):c.424A>G (p.Thr142Ala)
|
rs1565150951
|
|
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)
|
rs137852973
|
|
NM_001122955.4(BSCL2):c.464T>C (p.Leu155Pro)
|
|
|
NM_001122955.4(BSCL2):c.478C>A (p.Arg160Ser)
|
rs772536764
|
|
NM_001122955.4(BSCL2):c.493_494insAA (p.Met165fs)
|
rs786205069
|
|
NM_001122955.4(BSCL2):c.507_508del (p.Tyr170fs)
|
rs786205070
|
|
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs)
|
rs587777608
|
|
NM_001122955.4(BSCL2):c.529G>T (p.Glu177Ter)
|
|
|
NM_001122955.4(BSCL2):c.538G>T (p.Glu180Ter)
|
rs587777607
|
|
NM_001122955.4(BSCL2):c.544C>A (p.Pro182Thr)
|
rs886048442
|
|
NM_001122955.4(BSCL2):c.630+1G>A
|
rs1945400235
|
|
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=)
|
rs150158560
|
|
NM_001122955.4(BSCL2):c.631-2A>C
|
|
|
NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser)
|
rs10776
|
|
NM_001122955.4(BSCL2):c.752A>G (p.Tyr251Cys)
|
|
|
NM_001122955.4(BSCL2):c.766-2A>G
|
rs1013079991
|
|
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg)
|
rs781217574
|
|
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=)
|
rs998498207
|
|
NM_001122955.4(BSCL2):c.828del (p.Tyr277fs)
|
rs758843908
|
|
NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs)
|
rs1064797076
|
|
NM_001122955.4(BSCL2):c.863+5G>A
|
rs786205072
|
|
NM_001122955.4(BSCL2):c.864-2A>G
|
rs766061024
|
|
NM_001122955.4(BSCL2):c.864-3C>G
|
rs786205073
|
|
NM_001122955.4(BSCL2):c.876C>G (p.Tyr292Ter)
|
|
|
NM_001122955.4(BSCL2):c.88-620A>C
|
rs886048443
|
|
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu)
|
rs367783346
|
|
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)
|
rs749890533
|
|