NM_001122955.4(BSCL2):c.766-49T>C
|
rs2850597
|
0.75076
|
NM_001122955.4(BSCL2):c.765+69A>G
|
rs2850596
|
0.74808
|
NM_001122955.4(BSCL2):c.486+11G>T
|
rs72929434
|
0.16805
|
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)
|
rs6856
|
0.16571
|
NM_001122955.4(BSCL2):c.765+15C>T
|
rs79586077
|
0.03596
|
NM_001122955.4(BSCL2):c.88-662C>A
|
rs117597269
|
0.01291
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00301
|
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)
|
rs185341934
|
0.00096
|
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.1031C>T (p.Ser344Phe)
|
rs140676897
|
0.00043
|
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg)
|
rs151018278
|
0.00036
|
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.1367G>A (p.Arg456His)
|
rs149466797
|
0.00016
|
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=)
|
rs370926100
|
0.00016
|
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)
|
rs3763853
|
0.00014
|
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.1234+7G>A
|
rs200631909
|
0.00011
|
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.939C>T (p.Ile313=)
|
rs200300686
|
0.00010
|
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu)
|
rs767463971
|
0.00008
|
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg)
|
rs138964424
|
0.00005
|
NM_001122955.4(BSCL2):c.1234+14T>G
|
rs778380128
|
0.00004
|
NM_001122955.4(BSCL2):c.184C>T (p.Leu62Phe)
|
rs756907468
|
0.00003
|
NM_001122955.4(BSCL2):c.864-2A>C
|
rs766061024
|
0.00003
|
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.986G>A (p.Arg329Gln)
|
rs771322168
|
0.00002
|
NM_001122955.4(BSCL2):c.1054A>G (p.Ile352Val)
|
rs775718358
|
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.737_738insCCG (p.Glu246delinsAspArg)
|
rs747297291
|
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.88-634G>C
|
rs575422877
|
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
|
BSCL2, 258-BP DEL/12-BP INS
|
|
|
NM_001122955.4(BSCL2):c.1006-2A>G
|
rs879254029
|
|
NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter)
|
rs137852974
|
|
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=)
|
rs17850877
|
|
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del)
|
rs556562410
|
|
NM_001122955.4(BSCL2):c.1235-2A>C
|
rs1565142553
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])
|
rs747175358
|
|
NM_001122955.4(BSCL2):c.334C>T (p.Leu112Phe)
|
rs1057517657
|
|
NM_001122955.4(BSCL2):c.346_347dup (p.Tyr117fs)
|
rs1057517658
|
|
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.402C>G (p.Tyr134Ter)
|
rs557044760
|
|
NM_001122955.4(BSCL2):c.404+1G>T
|
rs1565152616
|
|
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.486+1G>T
|
rs1011200048
|
|
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.544C>A (p.Pro182Thr)
|
rs886048442
|
|
NM_001122955.4(BSCL2):c.630+1G>A
|
rs1945400235
|
|
NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser)
|
rs10776
|
|
NM_001122955.4(BSCL2):c.759_760del (p.Asn254fs)
|
rs1565144681
|
|
NM_001122955.4(BSCL2):c.766-2A>G
|
rs1013079991
|
|
NM_001122955.4(BSCL2):c.776C>T (p.Thr259Ile)
|
rs1565144468
|
|
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.862dup (p.Arg288fs)
|
rs2134695130
|
|
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.88-613G>A
|
rs112877243
|
|
NM_001122955.4(BSCL2):c.88-620A>C
|
rs886048443
|
|
NM_001122955.4(BSCL2):c.88-663G>A
|
rs117862461
|
|
NM_001122955.4(BSCL2):c.942dup (p.Leu315fs)
|
rs1554983076
|
|
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)
|
rs749890533
|
|