NM_152490.5(B3GALNT2):c.321G>A (p.Glu107=)
|
rs291396
|
0.46094
|
NM_152490.5(B3GALNT2):c.276C>T (p.Phe92=)
|
rs114039725
|
0.00070
|
NM_152490.5(B3GALNT2):c.402C>T (p.Asp134=)
|
rs144848710
|
0.00064
|
NM_152490.5(B3GALNT2):c.1368+13G>T
|
rs372425330
|
0.00046
|
NM_152490.5(B3GALNT2):c.369T>C (p.Asn123=)
|
rs149734145
|
0.00036
|
NM_152490.5(B3GALNT2):c.1215C>T (p.Pro405=)
|
rs145518904
|
0.00029
|
NM_152490.5(B3GALNT2):c.1151+14T>C
|
rs376973193
|
0.00028
|
NM_152490.5(B3GALNT2):c.81G>T (p.Pro27=)
|
rs766891631
|
0.00024
|
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met)
|
rs142756842
|
0.00016
|
NM_152490.5(B3GALNT2):c.843A>G (p.Glu281=)
|
rs543981282
|
0.00011
|
NM_152490.5(B3GALNT2):c.279A>C (p.Ile93=)
|
rs148341787
|
0.00010
|
NM_152490.5(B3GALNT2):c.579C>T (p.Phe193=)
|
rs745391527
|
0.00010
|
NM_152490.5(B3GALNT2):c.361+13T>G
|
rs367788823
|
0.00008
|
NM_152490.5(B3GALNT2):c.633A>G (p.Glu211=)
|
rs746548557
|
0.00007
|
NM_152490.5(B3GALNT2):c.1095T>C (p.Ala365=)
|
rs751231735
|
0.00005
|
NM_152490.5(B3GALNT2):c.30G>A (p.Pro10=)
|
rs986453979
|
0.00005
|
NM_152490.5(B3GALNT2):c.390T>C (p.Ser130=)
|
rs139582216
|
0.00005
|
NM_152490.5(B3GALNT2):c.102C>G (p.Ala34=)
|
rs1358930332
|
0.00004
|
NM_152490.5(B3GALNT2):c.1434G>A (p.Pro478=)
|
rs754116208
|
0.00004
|
NM_152490.5(B3GALNT2):c.396C>T (p.Ser132=)
|
rs140100348
|
0.00004
|
NM_152490.5(B3GALNT2):c.1116A>G (p.Gln372=)
|
rs777198285
|
0.00003
|
NM_152490.5(B3GALNT2):c.261-11A>G
|
rs768326815
|
0.00003
|
NM_152490.5(B3GALNT2):c.537T>C (p.Leu179=)
|
rs775836647
|
0.00003
|
NM_152490.5(B3GALNT2):c.978C>T (p.Val326=)
|
rs368371048
|
0.00003
|
NM_152490.5(B3GALNT2):c.1092A>G (p.Glu364=)
|
rs565049275
|
0.00002
|
NM_152490.5(B3GALNT2):c.249A>T (p.Thr83=)
|
rs770930732
|
0.00002
|
NM_152490.5(B3GALNT2):c.258A>G (p.Gln86=)
|
rs369467106
|
0.00002
|
NM_152490.5(B3GALNT2):c.362-12C>T
|
rs546633200
|
0.00002
|
NM_152490.5(B3GALNT2):c.699T>C (p.Leu233=)
|
rs368068535
|
0.00002
|
NM_152490.5(B3GALNT2):c.762+8del
|
rs754890407
|
0.00002
|
NM_152490.5(B3GALNT2):c.897T>C (p.His299=)
|
rs781287494
|
0.00002
|
NM_152490.5(B3GALNT2):c.1025+15T>C
|
rs1445379451
|
0.00001
|
NM_152490.5(B3GALNT2):c.1026-8G>T
|
rs765661953
|
0.00001
|
NM_152490.5(B3GALNT2):c.1041G>A (p.Thr347=)
|
rs775702524
|
0.00001
|
NM_152490.5(B3GALNT2):c.1065A>G (p.Thr355=)
|
rs373246690
|
0.00001
|
NM_152490.5(B3GALNT2):c.1089C>T (p.Leu363=)
|
rs1057522976
|
0.00001
|
NM_152490.5(B3GALNT2):c.1104T>C (p.Asn368=)
|
rs765751968
|
0.00001
|
NM_152490.5(B3GALNT2):c.1152-15T>C
|
rs764693057
|
0.00001
|
NM_152490.5(B3GALNT2):c.1182C>T (p.Thr394=)
|
rs373186743
|
0.00001
|
NM_152490.5(B3GALNT2):c.1197G>A (p.Glu399=)
|
rs1398625005
|
0.00001
|
NM_152490.5(B3GALNT2):c.1308T>C (p.Tyr436=)
|
rs371512953
|
0.00001
|
NM_152490.5(B3GALNT2):c.1371C>T (p.Asp457=)
|
rs200368164
|
0.00001
|
NM_152490.5(B3GALNT2):c.1446G>A (p.Thr482=)
|
rs202105146
|
0.00001
|
NM_152490.5(B3GALNT2):c.384G>A (p.Ala128=)
|
rs1049290415
|
0.00001
|
NM_152490.5(B3GALNT2):c.411G>A (p.Ser137=)
|
rs1443841724
|
0.00001
|
NM_152490.5(B3GALNT2):c.444T>C (p.Ser148=)
|
rs780140983
|
0.00001
|
NM_152490.5(B3GALNT2):c.492C>T (p.Tyr164=)
|
rs1363202163
|
0.00001
|
NM_152490.5(B3GALNT2):c.555+12T>C
|
rs1277419946
|
0.00001
|
NM_152490.5(B3GALNT2):c.69G>T (p.Leu23=)
|
rs1234413183
|
0.00001
|
NM_152490.5(B3GALNT2):c.723G>A (p.Val241=)
|
rs777394575
|
0.00001
|
NM_152490.5(B3GALNT2):c.842-4A>G
|
rs750335648
|
0.00001
|
NC_000001.11:g.235455553ACTT[3]
|
|
|
NM_003193.5(TBCE):c.*1584G>C
|
rs1572474537
|
|
NM_152490.5(B3GALNT2):c.1009T>C (p.Leu337=)
|
|
|
NM_152490.5(B3GALNT2):c.1014C>T (p.Asn338=)
|
rs2102789767
|
|
NM_152490.5(B3GALNT2):c.1025+13A>T
|
|
|
NM_152490.5(B3GALNT2):c.1025+14A>C
|
|
|
NM_152490.5(B3GALNT2):c.1025+16G>T
|
rs1005203212
|
|
NM_152490.5(B3GALNT2):c.1026-13T>C
|
|
|
NM_152490.5(B3GALNT2):c.1026-18T>C
|
|
|
NM_152490.5(B3GALNT2):c.1026-5A>T
|
|
|
NM_152490.5(B3GALNT2):c.102C>T (p.Ala34=)
|
rs1358930332
|
|
NM_152490.5(B3GALNT2):c.1032G>A (p.Val344=)
|
|
|
NM_152490.5(B3GALNT2):c.1038A>G (p.Thr346=)
|
|
|
NM_152490.5(B3GALNT2):c.1050T>C (p.Asn350=)
|
|
|
NM_152490.5(B3GALNT2):c.1051T>C (p.Leu351=)
|
|
|
NM_152490.5(B3GALNT2):c.1056G>A (p.Leu352=)
|
|
|
NM_152490.5(B3GALNT2):c.1057C>T (p.Leu353=)
|
|
|
NM_152490.5(B3GALNT2):c.112+10T>G
|
rs1572574802
|
|
NM_152490.5(B3GALNT2):c.112+14G>A
|
|
|
NM_152490.5(B3GALNT2):c.112+9C>T
|
rs1055699299
|
|
NM_152490.5(B3GALNT2):c.113-14G>A
|
|
|
NM_152490.5(B3GALNT2):c.113-14_113-12del
|
|
|
NM_152490.5(B3GALNT2):c.113-19G>A
|
rs2102863411
|
|
NM_152490.5(B3GALNT2):c.1152-17A>G
|
|
|
NM_152490.5(B3GALNT2):c.1152-19A>G
|
rs1553342808
|
|
NM_152490.5(B3GALNT2):c.1188G>A (p.Lys396=)
|
rs2102782719
|
|
NM_152490.5(B3GALNT2):c.1209G>A (p.Pro403=)
|
|
|
NM_152490.5(B3GALNT2):c.1233A>T (p.Ala411=)
|
rs1683061203
|
|
NM_152490.5(B3GALNT2):c.1245A>T (p.Gly415=)
|
rs1683060580
|
|
NM_152490.5(B3GALNT2):c.1257C>T (p.Ser419=)
|
|
|
NM_152490.5(B3GALNT2):c.1266C>T (p.Ile422=)
|
rs762656574
|
|
NM_152490.5(B3GALNT2):c.1290G>A (p.Ser430=)
|
rs1572482699
|
|
NM_152490.5(B3GALNT2):c.1293G>A (p.Gly431=)
|
|
|
NM_152490.5(B3GALNT2):c.1311+15C>A
|
rs2102782415
|
|
NM_152490.5(B3GALNT2):c.1311+9_1311+11del
|
rs1572482653
|
|
NM_152490.5(B3GALNT2):c.1312-8A>G
|
rs2102780564
|
|
NM_152490.5(B3GALNT2):c.1375C>T (p.Leu459=)
|
|
|
NM_152490.5(B3GALNT2):c.1425G>A (p.Gln475=)
|
rs1682818290
|
|
NM_152490.5(B3GALNT2):c.1434G>T (p.Pro478=)
|
rs754116208
|
|
NM_152490.5(B3GALNT2):c.1443G>C (p.Leu481=)
|
|
|
NM_152490.5(B3GALNT2):c.1458A>G (p.Lys486=)
|
|
|
NM_152490.5(B3GALNT2):c.1467A>G (p.Glu489=)
|
|
|
NM_152490.5(B3GALNT2):c.1468C>A (p.Arg490=)
|
rs751445150
|
|
NM_152490.5(B3GALNT2):c.150C>T (p.His50=)
|
rs774499951
|
|
NM_152490.5(B3GALNT2):c.168C>T (p.Gly56=)
|
|
|
NM_152490.5(B3GALNT2):c.177A>G (p.Ser59=)
|
rs2102863197
|
|
NM_152490.5(B3GALNT2):c.192T>C (p.His64=)
|
|
|
NM_152490.5(B3GALNT2):c.204C>T (p.Asn68=)
|
rs1057182171
|
|
NM_152490.5(B3GALNT2):c.219C>T (p.Thr73=)
|
|
|
NM_152490.5(B3GALNT2):c.260+11T>G
|
rs779108946
|
|
NM_152490.5(B3GALNT2):c.260+18T>C
|
|
|
NM_152490.5(B3GALNT2):c.261-7C>A
|
|
|
NM_152490.5(B3GALNT2):c.30G>T (p.Pro10=)
|
|
|
NM_152490.5(B3GALNT2):c.339A>G (p.Lys113=)
|
rs575352096
|
|
NM_152490.5(B3GALNT2):c.361+20G>A
|
|
|
NM_152490.5(B3GALNT2):c.362-10C>T
|
|
|
NM_152490.5(B3GALNT2):c.362-12C>G
|
|
|
NM_152490.5(B3GALNT2):c.362-20A>G
|
|
|
NM_152490.5(B3GALNT2):c.438C>T (p.Ser146=)
|
|
|
NM_152490.5(B3GALNT2):c.519G>A (p.Arg173=)
|
|
|
NM_152490.5(B3GALNT2):c.51G>T (p.Leu17=)
|
|
|
NM_152490.5(B3GALNT2):c.558G>A (p.Glu186=)
|
rs2102834901
|
|
NM_152490.5(B3GALNT2):c.564C>T (p.Leu188=)
|
rs1684490953
|
|
NM_152490.5(B3GALNT2):c.57C>T (p.Leu19=)
|
rs1572574971
|
|
NM_152490.5(B3GALNT2):c.588A>G (p.Pro196=)
|
rs773287935
|
|
NM_152490.5(B3GALNT2):c.606G>T (p.Val202=)
|
rs2102834750
|
|
NM_152490.5(B3GALNT2):c.627C>T (p.Pro209=)
|
|
|
NM_152490.5(B3GALNT2):c.636A>G (p.Gln212=)
|
|
|
NM_152490.5(B3GALNT2):c.63G>A (p.Leu21=)
|
rs2102880423
|
|
NM_152490.5(B3GALNT2):c.652-12T>C
|
rs2102815609
|
|
NM_152490.5(B3GALNT2):c.652-18T>A
|
|
|
NM_152490.5(B3GALNT2):c.669C>T (p.Ile223=)
|
|
|
NM_152490.5(B3GALNT2):c.690C>T (p.Leu230=)
|
|
|
NM_152490.5(B3GALNT2):c.72C>T (p.Arg24=)
|
|
|
NM_152490.5(B3GALNT2):c.744A>T (p.Gly248=)
|
|
|
NM_152490.5(B3GALNT2):c.756C>A (p.Val252=)
|
rs765281101
|
|
NM_152490.5(B3GALNT2):c.75C>T (p.Ser25=)
|
rs1244053981
|
|
NM_152490.5(B3GALNT2):c.762+12T>C
|
|
|
NM_152490.5(B3GALNT2):c.762+8G>A
|
rs77267353
|
|
NM_152490.5(B3GALNT2):c.762+8G>T
|
rs77267353
|
|
NM_152490.5(B3GALNT2):c.762+9T>G
|
|
|
NM_152490.5(B3GALNT2):c.763-10T>C
|
rs747403347
|
|
NM_152490.5(B3GALNT2):c.807G>A (p.Glu269=)
|
rs1436382802
|
|
NM_152490.5(B3GALNT2):c.84C>T (p.Pro28=)
|
rs1572574900
|
|
NM_152490.5(B3GALNT2):c.861C>T (p.His287=)
|
|
|
NM_152490.5(B3GALNT2):c.936G>A (p.Glu312=)
|
rs554067980
|
|
NM_152490.5(B3GALNT2):c.951T>C (p.Tyr317=)
|
|
|
NM_152490.5(B3GALNT2):c.99G>A (p.Gly33=)
|
|
|