NM_000330.4(RS1):c.184+3484C>A
|
rs33958554
|
0.66040
|
NM_000330.4(RS1):c.185-150A>C
|
rs6633107
|
0.09819
|
NM_000330.4(RS1):c.522+66A>C
|
rs41309707
|
0.06999
|
NM_000330.4(RS1):c.330T>C (p.Cys110=)
|
rs1801161
|
0.06874
|
NM_000330.4(RS1):c.184+3207C>T
|
rs35693326
|
0.02951
|
NM_000330.4(RS1):c.295A>G (p.Asn99Asp)
|
rs144683916
|
0.01920
|
NM_000330.4(RS1):c.185-3439C>T
|
rs142949334
|
0.00694
|
NM_000330.4(RS1):c.184+3357T>C
|
rs139047348
|
0.00664
|
NM_000330.4(RS1):c.185-3548A>G
|
rs151084706
|
0.00654
|
NM_000330.4(RS1):c.184+3243C>T
|
rs58669795
|
0.00568
|
NM_000330.4(RS1):c.184+3118C>T
|
rs139155110
|
0.00352
|
NM_000330.4(RS1):c.184+3199G>A
|
rs36022183
|
0.00345
|
NM_000330.4(RS1):c.184+3208G>A
|
rs150900695
|
0.00231
|
NM_000330.4(RS1):c.326+1082T>C
|
rs375809338
|
0.00013
|
NM_000330.4(RS1):c.185-3213A>C
|
rs143243059
|
0.00009
|
NM_000330.4(RS1):c.185-3134G>A
|
rs202153551
|
0.00007
|
NM_000330.4(RS1):c.185-3208C>T
|
rs140944590
|
0.00007
|
NM_000330.4(RS1):c.326+1085G>A
|
rs778757202
|
0.00007
|
NM_000330.4(RS1):c.184+3198C>T
|
rs987192406
|
0.00006
|
NM_000330.4(RS1):c.185-3189C>T
|
rs570887192
|
0.00006
|
NM_000330.4(RS1):c.185-3221G>C
|
rs374054249
|
0.00004
|
NM_000330.4(RS1):c.184+3194A>G
|
rs587783162
|
0.00003
|
NM_000330.4(RS1):c.184+3119G>A
|
rs762576315
|
0.00002
|
NM_000330.4(RS1):c.184+3190C>A
|
rs267608667
|
0.00002
|
NM_000330.4(RS1):c.185-3147C>T
|
rs376557374
|
0.00002
|
NM_000330.4(RS1):c.185-3188G>A
|
rs267608665
|
0.00002
|
NM_000330.4(RS1):c.185-3207G>A
|
rs587783161
|
0.00002
|
NM_000330.4(RS1):c.325G>C (p.Gly109Arg)
|
rs104894934
|
0.00002
|
NM_000330.4(RS1):c.184+3181C>T
|
rs1183803130
|
0.00001
|
NM_000330.4(RS1):c.185-3109C>T
|
rs1057522669
|
0.00001
|
NM_000330.4(RS1):c.185-3161G>C
|
rs1064794669
|
0.00001
|
NM_000330.4(RS1):c.185-3170A>G
|
rs781435432
|
0.00001
|
NM_000330.4(RS1):c.185-3176C>T
|
rs747799506
|
0.00001
|
NM_000330.4(RS1):c.185-3280G>A
|
rs181859624
|
0.00001
|
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)
|
rs104894928
|
0.00001
|
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)
|
rs61752067
|
0.00001
|
NM_000330.4(RS1):c.305G>A (p.Arg102Gln)
|
rs61752068
|
0.00001
|
NM_000330.4(RS1):c.326+1114C>T
|
rs369383134
|
0.00001
|
NM_000330.4(RS1):c.326+1159C>G
|
rs587783160
|
0.00001
|
NM_000330.4(RS1):c.590G>A (p.Arg197His)
|
rs281865355
|
0.00001
|
GRCh37/hg19 Xp22.13(chrX:18442534-18684145)x1
|
|
|
NM_000330.4(RS1):c.*146del
|
rs377648180
|
|
NM_000330.4(RS1):c.184+2977A>T
|
rs34450419
|
|
NM_000330.4(RS1):c.184+2978T>C
|
rs56396491
|
|
NM_000330.4(RS1):c.184+3174T>C
|
rs2147201232
|
|
NM_000330.4(RS1):c.184+3219A>T
|
|
|
NM_000330.4(RS1):c.185-149_185-148del
|
rs199718286
|
|
NM_000330.4(RS1):c.185-1G>T
|
|
|
NM_000330.4(RS1):c.185-3078_185-3076del
|
rs1085307780
|
|
NM_000330.4(RS1):c.185-3114T>C
|
rs1057523930
|
|
NM_000330.4(RS1):c.185-3119_185-3117dup
|
rs1064795115
|
|
NM_000330.4(RS1):c.185-3215G>T
|
rs775114662
|
|
NM_000330.4(RS1):c.185-3281C>G
|
rs148531754
|
|
NM_000330.4(RS1):c.194A>G (p.Tyr65Cys)
|
rs62645892
|
|
NM_000330.4(RS1):c.208G>A (p.Gly70Ser)
|
rs62645894
|
|
NM_000330.4(RS1):c.214G>C (p.Glu72Gln)
|
rs104894928
|
|
NM_000330.4(RS1):c.221_237delinsTCCCCTGACCGGGTTAGAGT (p.Gly74_Asp79delinsValProTer)
|
rs1555957756
|
|
NM_000330.4(RS1):c.276G>C (p.Trp92Cys)
|
rs61752062
|
|
NM_000330.4(RS1):c.279T>A (p.Tyr93Ter)
|
rs1057520548
|
|
NM_000330.4(RS1):c.286T>C (p.Trp96Arg)
|
rs61752063
|
|
NM_000330.4(RS1):c.288G>A (p.Trp96Ter)
|
rs61752064
|
|
NM_000330.4(RS1):c.308T>G (p.Leu103Arg)
|
rs61752069
|
|
NM_000330.4(RS1):c.326+1087G>A
|
rs1057520263
|
|
NM_000330.4(RS1):c.326+1087G>C
|
rs1057520263
|
|
NM_000330.4(RS1):c.326+1149A>C
|
rs2147192642
|
|
NM_000330.4(RS1):c.375_378del (p.Ile125_Asp126insTer)
|
rs61752148
|
|
NM_000330.4(RS1):c.421C>T (p.Arg141Cys)
|
rs61752158
|
|
NM_000330.4(RS1):c.422G>A (p.Arg141His)
|
rs61752159
|
|
NM_000330.4(RS1):c.452A>C (p.Tyr151Ser)
|
rs1131691380
|
|
NM_000330.4(RS1):c.520del (p.Arg174fs)
|
rs886041235
|
|
NM_000330.4(RS1):c.522+1G>A
|
rs281865348
|
|
NM_000330.4(RS1):c.543_544delinsAG (p.Asp181_Arg182delinsGluGly)
|
rs1555957020
|
|
NM_000330.4(RS1):c.562A>G (p.Asn188Asp)
|
rs2147189068
|
|
NM_000330.4(RS1):c.577C>T (p.Pro193Ser)
|
rs281865351
|
|
NM_000330.4(RS1):c.579dup (p.Ile194fs)
|
rs199469697
|
|
NM_000330.4(RS1):c.598C>T (p.Arg200Cys)
|
rs281865357
|
|
NM_000330.4(RS1):c.599G>A (p.Arg200His)
|
rs281865358
|
|
NM_000330.4(RS1):c.608C>T (p.Pro203Leu)
|
rs104894930
|
|
NM_000330.4(RS1):c.625C>T (p.Arg209Cys)
|
rs281865361
|
|
NM_000330.4(RS1):c.626G>A (p.Arg209His)
|
rs281865362
|
|
NM_000330.4(RS1):c.637C>T (p.Arg213Trp)
|
rs281865365
|
|
NM_000330.4(RS1):c.656G>A (p.Cys219Tyr)
|
rs2147188856
|
|
NM_000330.4(RS1):c.668G>A (p.Cys223Tyr)
|
rs1057517816
|
|