NM_152490.5(B3GALNT2):c.1178G>A (p.Arg393Gln)
|
rs140708018
|
0.00074
|
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His)
|
rs201345883
|
0.00032
|
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe)
|
rs185213208
|
0.00032
|
NM_152490.5(B3GALNT2):c.410C>T (p.Ser137Leu)
|
rs140393851
|
0.00021
|
NM_152490.5(B3GALNT2):c.400G>C (p.Asp134His)
|
rs370993648
|
0.00019
|
NM_152490.5(B3GALNT2):c.959T>C (p.Ile320Thr)
|
rs148808160
|
0.00012
|
NM_152490.5(B3GALNT2):c.1214C>T (p.Pro405Leu)
|
rs554797006
|
0.00010
|
NM_152490.5(B3GALNT2):c.466G>A (p.Val156Ile)
|
rs151133469
|
0.00009
|
NM_152490.5(B3GALNT2):c.1069G>A (p.Asp357Asn)
|
rs138443370
|
0.00008
|
NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys)
|
rs773864097
|
0.00006
|
NM_152490.5(B3GALNT2):c.574C>T (p.Arg192Cys)
|
rs144258088
|
0.00006
|
NM_152490.5(B3GALNT2):c.790T>A (p.Phe264Ile)
|
rs779469431
|
0.00006
|
NM_152490.5(B3GALNT2):c.664A>G (p.Thr222Ala)
|
rs375121424
|
0.00005
|
NM_152490.5(B3GALNT2):c.1090G>A (p.Glu364Lys)
|
rs138436770
|
0.00004
|
NM_152490.5(B3GALNT2):c.29C>G (p.Pro10Arg)
|
rs1335073175
|
0.00004
|
NM_152490.5(B3GALNT2):c.31T>G (p.Cys11Gly)
|
rs953296331
|
0.00004
|
NM_152490.5(B3GALNT2):c.500A>G (p.Asn167Ser)
|
rs144123418
|
0.00004
|
NM_152490.5(B3GALNT2):c.628G>A (p.Val210Met)
|
rs781198538
|
0.00004
|
NM_152490.5(B3GALNT2):c.64C>T (p.Arg22Trp)
|
rs962461243
|
0.00004
|
NM_152490.5(B3GALNT2):c.706A>G (p.Arg236Gly)
|
rs113948040
|
0.00004
|
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn)
|
rs753340395
|
0.00004
|
NM_152490.5(B3GALNT2):c.97G>A (p.Gly33Arg)
|
rs1006228968
|
0.00003
|
NM_152490.5(B3GALNT2):c.1040C>T (p.Thr347Met)
|
rs746993541
|
0.00002
|
NM_152490.5(B3GALNT2):c.134A>G (p.Gln45Arg)
|
rs760940955
|
0.00002
|
NM_152490.5(B3GALNT2):c.1081A>G (p.Ile361Val)
|
rs1470669806
|
0.00001
|
NM_152490.5(B3GALNT2):c.1208C>T (p.Pro403Leu)
|
rs369378819
|
0.00001
|
NM_152490.5(B3GALNT2):c.1216G>A (p.Ala406Thr)
|
rs369079608
|
0.00001
|
NM_152490.5(B3GALNT2):c.1286A>G (p.Asn429Ser)
|
rs1374738059
|
0.00001
|
NM_152490.5(B3GALNT2):c.1324A>T (p.Ser442Cys)
|
rs1041647688
|
0.00001
|
NM_152490.5(B3GALNT2):c.1368+1G>A
|
rs1479230229
|
0.00001
|
NM_152490.5(B3GALNT2):c.1A>G (p.Met1Val)
|
rs763641118
|
0.00001
|
NM_152490.5(B3GALNT2):c.205G>A (p.Val69Met)
|
rs534508633
|
0.00001
|
NM_152490.5(B3GALNT2):c.254G>A (p.Ser85Asn)
|
rs947223231
|
0.00001
|
NM_152490.5(B3GALNT2):c.428G>A (p.Arg143Gln)
|
rs1256983608
|
0.00001
|
NM_152490.5(B3GALNT2):c.434T>C (p.Val145Ala)
|
rs1684704696
|
0.00001
|
NM_152490.5(B3GALNT2):c.43G>A (p.Ala15Thr)
|
rs997345764
|
0.00001
|
NM_152490.5(B3GALNT2):c.461C>G (p.Pro154Arg)
|
rs1684702121
|
0.00001
|
NM_152490.5(B3GALNT2):c.463A>G (p.Ile155Val)
|
rs753582080
|
0.00001
|
NM_152490.5(B3GALNT2):c.493G>A (p.Asp165Asn)
|
rs377646173
|
0.00001
|
NM_152490.5(B3GALNT2):c.555+5G>A
|
rs373909279
|
0.00001
|
NM_152490.5(B3GALNT2):c.556-8A>G
|
rs776132593
|
0.00001
|
NM_152490.5(B3GALNT2):c.602A>C (p.Gln201Pro)
|
rs1372895091
|
0.00001
|
NM_152490.5(B3GALNT2):c.61C>A (p.Leu21Met)
|
rs1185149901
|
0.00001
|
NM_152490.5(B3GALNT2):c.688C>T (p.Leu230Phe)
|
rs768629547
|
0.00001
|
NM_152490.5(B3GALNT2):c.694G>A (p.Gly232Ser)
|
rs775573521
|
0.00001
|
NM_152490.5(B3GALNT2):c.700G>T (p.Val234Leu)
|
rs778248252
|
0.00001
|
NM_152490.5(B3GALNT2):c.733G>T (p.Asp245Tyr)
|
rs751860328
|
0.00001
|
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)
|
rs367543072
|
0.00001
|
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)
|
rs367543074
|
0.00001
|
NM_152490.5(B3GALNT2):c.826A>G (p.Ile276Val)
|
rs533620649
|
0.00001
|
NM_152490.5(B3GALNT2):c.833C>T (p.Thr278Ile)
|
rs565013842
|
0.00001
|
NM_152490.5(B3GALNT2):c.842-6T>G
|
rs1187623137
|
0.00001
|
NM_152490.5(B3GALNT2):c.845G>A (p.Gly282Asp)
|
rs776153145
|
0.00001
|
NM_152490.5(B3GALNT2):c.893A>G (p.Asp298Gly)
|
rs1170718692
|
0.00001
|
NM_152490.5(B3GALNT2):c.92C>T (p.Ala31Val)
|
rs1286920217
|
0.00001
|
NM_152490.5(B3GALNT2):c.954T>A (p.Asp318Glu)
|
rs994102365
|
0.00001
|
NM_152490.5(B3GALNT2):c.989G>A (p.Arg330His)
|
rs771483345
|
0.00001
|
NC_000001.10:g.(?_235613501)_(235667572_?)dup
|
|
|
NC_000001.10:g.(?_235613511)_(235629041_?)dup
|
|
|
NC_000001.10:g.(?_235613511)_(235658148_?)dup
|
|
|
NC_000001.10:g.(?_235613511)_(235667562_?)dup
|
|
|
NC_000001.10:g.(?_235634154)_(235667552_?)dup
|
|
|
NC_000001.10:g.(?_235652463)_(235658148_?)dup
|
|
|
NC_000001.11:g.(?_235470840)_(235470970_?)dup
|
|
|
NM_152490.5(B3GALNT2):c.1013A>G (p.Asn338Ser)
|
rs1553343724
|
|
NM_152490.5(B3GALNT2):c.1025+4G>C
|
rs770371145
|
|
NM_152490.5(B3GALNT2):c.1026G>T (p.Trp342Cys)
|
|
|
NM_152490.5(B3GALNT2):c.1030G>A (p.Val344Met)
|
|
|
NM_152490.5(B3GALNT2):c.1034A>G (p.Glu345Gly)
|
|
|
NM_152490.5(B3GALNT2):c.1035AAC[1] (p.Thr347del)
|
rs2102784848
|
|
NM_152490.5(B3GALNT2):c.1039A>C (p.Thr347Pro)
|
|
|
NM_152490.5(B3GALNT2):c.103G>A (p.Gly35Ser)
|
rs1355670872
|
|
NM_152490.5(B3GALNT2):c.1048A>C (p.Asn350His)
|
|
|
NM_152490.5(B3GALNT2):c.1052T>G (p.Leu351Trp)
|
rs772233739
|
|
NM_152490.5(B3GALNT2):c.1057C>G (p.Leu353Val)
|
rs1553342995
|
|
NM_152490.5(B3GALNT2):c.1069G>C (p.Asp357His)
|
|
|
NM_152490.5(B3GALNT2):c.1076G>A (p.Cys359Tyr)
|
rs1553342979
|
|
NM_152490.5(B3GALNT2):c.107C>G (p.Pro36Arg)
|
rs1553356108
|
|
NM_152490.5(B3GALNT2):c.1081A>C (p.Ile361Leu)
|
rs1470669806
|
|
NM_152490.5(B3GALNT2):c.1088T>G (p.Leu363Arg)
|
|
|
NM_152490.5(B3GALNT2):c.1099T>G (p.Phe367Val)
|
|
|
NM_152490.5(B3GALNT2):c.10T>C (p.Trp4Arg)
|
rs1553356208
|
|
NM_152490.5(B3GALNT2):c.1108A>T (p.Ile370Phe)
|
rs1553342963
|
|
NM_152490.5(B3GALNT2):c.1177C>G (p.Arg393Gly)
|
|
|
NM_152490.5(B3GALNT2):c.1187A>G (p.Lys396Arg)
|
|
|
NM_152490.5(B3GALNT2):c.1207C>T (p.Pro403Ser)
|
rs1683062458
|
|
NM_152490.5(B3GALNT2):c.1211G>C (p.Ser404Thr)
|
|
|
NM_152490.5(B3GALNT2):c.1217C>T (p.Ala406Val)
|
|
|
NM_152490.5(B3GALNT2):c.1223C>G (p.Pro408Arg)
|
|
|
NM_152490.5(B3GALNT2):c.1244G>A (p.Gly415Glu)
|
|
|
NM_152490.5(B3GALNT2):c.1255T>A (p.Ser419Thr)
|
rs1281464527
|
|
NM_152490.5(B3GALNT2):c.1279G>T (p.Ala427Ser)
|
rs773466522
|
|
NM_152490.5(B3GALNT2):c.1289C>T (p.Ser430Leu)
|
|
|
NM_152490.5(B3GALNT2):c.1304C>A (p.Thr435Asn)
|
rs1683057478
|
|
NM_152490.5(B3GALNT2):c.1307A>G (p.Tyr436Cys)
|
|
|
NM_152490.5(B3GALNT2):c.1312-16T>C
|
|
|
NM_152490.5(B3GALNT2):c.1318G>A (p.Asp440Asn)
|
rs1683005563
|
|
NM_152490.5(B3GALNT2):c.1366C>A (p.Gln456Lys)
|
|
|
NM_152490.5(B3GALNT2):c.1368+3A>G
|
rs1558407116
|
|
NM_152490.5(B3GALNT2):c.155A>T (p.Asp52Val)
|
rs777105173
|
|
NM_152490.5(B3GALNT2):c.16G>A (p.Val6Met)
|
rs2102880612
|
|
NM_152490.5(B3GALNT2):c.178G>C (p.Ala60Pro)
|
|
|
NM_152490.5(B3GALNT2):c.181C>T (p.Arg61Cys)
|
|
|
NM_152490.5(B3GALNT2):c.182G>A (p.Arg61His)
|
|
|
NM_152490.5(B3GALNT2):c.184A>G (p.Asn62Asp)
|
rs1352782835
|
|
NM_152490.5(B3GALNT2):c.185A>G (p.Asn62Ser)
|
|
|
NM_152490.5(B3GALNT2):c.206T>G (p.Val69Gly)
|
|
|
NM_152490.5(B3GALNT2):c.210AAG[1] (p.Arg71del)
|
|
|
NM_152490.5(B3GALNT2):c.215G>A (p.Ser72Asn)
|
|
|
NM_152490.5(B3GALNT2):c.218C>G (p.Thr73Ser)
|
rs372008334
|
|
NM_152490.5(B3GALNT2):c.220T>G (p.Trp74Gly)
|
|
|
NM_152490.5(B3GALNT2):c.22C>G (p.Leu8Val)
|
rs1685731091
|
|
NM_152490.5(B3GALNT2):c.23T>G (p.Leu8Arg)
|
rs1437958242
|
|
NM_152490.5(B3GALNT2):c.245C>G (p.Pro82Arg)
|
|
|
NM_152490.5(B3GALNT2):c.257A>C (p.Gln86Pro)
|
|
|
NM_152490.5(B3GALNT2):c.259C>G (p.Arg87Gly)
|
rs747653180
|
|
NM_152490.5(B3GALNT2):c.259C>T (p.Arg87Cys)
|
|
|
NM_152490.5(B3GALNT2):c.266T>C (p.Leu89Pro)
|
|
|
NM_152490.5(B3GALNT2):c.268G>T (p.Val90Leu)
|
rs371613038
|
|
NM_152490.5(B3GALNT2):c.280A>G (p.Ile94Val)
|
|
|
NM_152490.5(B3GALNT2):c.290A>G (p.His97Arg)
|
|
|
NM_152490.5(B3GALNT2):c.29C>A (p.Pro10Gln)
|
|
|
NM_152490.5(B3GALNT2):c.305C>G (p.Pro102Arg)
|
|
|
NM_152490.5(B3GALNT2):c.310G>A (p.Glu104Lys)
|
|
|
NM_152490.5(B3GALNT2):c.322G>A (p.Asp108Asn)
|
rs920430546
|
|
NM_152490.5(B3GALNT2):c.335G>A (p.Cys112Tyr)
|
|
|
NM_152490.5(B3GALNT2):c.33T>G (p.Cys11Trp)
|
|
|
NM_152490.5(B3GALNT2):c.347A>G (p.Asn116Ser)
|
rs1572547857
|
|
NM_152490.5(B3GALNT2):c.355A>C (p.Asn119His)
|
|
|
NM_152490.5(B3GALNT2):c.356A>T (p.Asn119Ile)
|
|
|
NM_152490.5(B3GALNT2):c.362-5C>G
|
|
|
NM_152490.5(B3GALNT2):c.379G>A (p.Glu127Lys)
|
|
|
NM_152490.5(B3GALNT2):c.37C>T (p.Leu13Phe)
|
|
|
NM_152490.5(B3GALNT2):c.383C>T (p.Ala128Val)
|
rs1572539209
|
|
NM_152490.5(B3GALNT2):c.40G>C (p.Gly14Arg)
|
|
|
NM_152490.5(B3GALNT2):c.40_57del (p.Gly14_Leu19del)
|
|
|
NM_152490.5(B3GALNT2):c.419C>T (p.Pro140Leu)
|
|
|
NM_152490.5(B3GALNT2):c.41G>C (p.Gly14Ala)
|
rs2102880495
|
|
NM_152490.5(B3GALNT2):c.436A>C (p.Ser146Arg)
|
rs1684704587
|
|
NM_152490.5(B3GALNT2):c.439G>A (p.Val147Met)
|
rs143983025
|
|
NM_152490.5(B3GALNT2):c.439G>C (p.Val147Leu)
|
rs143983025
|
|
NM_152490.5(B3GALNT2):c.458A>G (p.Tyr153Cys)
|
rs757111780
|
|
NM_152490.5(B3GALNT2):c.458A>T (p.Tyr153Phe)
|
rs757111780
|
|
NM_152490.5(B3GALNT2):c.460C>G (p.Pro154Ala)
|
|
|
NM_152490.5(B3GALNT2):c.461C>T (p.Pro154Leu)
|
|
|
NM_152490.5(B3GALNT2):c.46G>A (p.Ala16Thr)
|
rs1685727749
|
|
NM_152490.5(B3GALNT2):c.475A>G (p.Ser159Gly)
|
|
|
NM_152490.5(B3GALNT2):c.476G>A (p.Ser159Asn)
|
|
|
NM_152490.5(B3GALNT2):c.479T>C (p.Leu160Pro)
|
rs2102843967
|
|
NM_152490.5(B3GALNT2):c.538T>C (p.Tyr180His)
|
rs772253366
|
|
NM_152490.5(B3GALNT2):c.555+6C>T
|
|
|
NM_152490.5(B3GALNT2):c.575G>T (p.Arg192Leu)
|
|
|
NM_152490.5(B3GALNT2):c.608A>G (p.Asn203Ser)
|
rs1684487405
|
|
NM_152490.5(B3GALNT2):c.620A>G (p.Tyr207Cys)
|
|
|
NM_152490.5(B3GALNT2):c.629T>G (p.Val210Gly)
|
rs754911016
|
|
NM_152490.5(B3GALNT2):c.643T>G (p.Leu215Val)
|
rs2102834613
|
|
NM_152490.5(B3GALNT2):c.651+3A>G
|
|
|
NM_152490.5(B3GALNT2):c.651+5A>G
|
|
|
NM_152490.5(B3GALNT2):c.652-4A>G
|
rs1683974448
|
|
NM_152490.5(B3GALNT2):c.658G>A (p.Glu220Lys)
|
rs766801682
|
|
NM_152490.5(B3GALNT2):c.670G>A (p.Val224Met)
|
|
|
NM_152490.5(B3GALNT2):c.691C>T (p.His231Tyr)
|
rs945312438
|
|
NM_152490.5(B3GALNT2):c.701T>C (p.Val234Ala)
|
|
|
NM_152490.5(B3GALNT2):c.727G>C (p.Val243Leu)
|
rs755405777
|
|
NM_152490.5(B3GALNT2):c.730A>G (p.Asn244Asp)
|
|
|
NM_152490.5(B3GALNT2):c.734A>G (p.Asp245Gly)
|
rs1683966257
|
|
NM_152490.5(B3GALNT2):c.73T>C (p.Ser25Pro)
|
rs1685725563
|
|
NM_152490.5(B3GALNT2):c.748C>A (p.Leu250Ile)
|
rs1683965217
|
|
NM_152490.5(B3GALNT2):c.752G>C (p.Arg251Thr)
|
|
|
NM_152490.5(B3GALNT2):c.763-6T>C
|
|
|
NM_152490.5(B3GALNT2):c.785A>C (p.His262Pro)
|
|
|
NM_152490.5(B3GALNT2):c.815C>T (p.Ala272Val)
|
rs1558417340
|
|
NM_152490.5(B3GALNT2):c.835A>C (p.Ile279Leu)
|
rs1683655820
|
|
NM_152490.5(B3GALNT2):c.839A>T (p.Gln280Leu)
|
|
|
NM_152490.5(B3GALNT2):c.842-3T>C
|
rs1247622470
|
|
NM_152490.5(B3GALNT2):c.842-3T>G
|
rs1247622470
|
|
NM_152490.5(B3GALNT2):c.85G>T (p.Ala29Ser)
|
|
|
NM_152490.5(B3GALNT2):c.863A>G (p.Asn288Ser)
|
rs2102790139
|
|
NM_152490.5(B3GALNT2):c.86C>A (p.Ala29Asp)
|
|
|
NM_152490.5(B3GALNT2):c.874C>T (p.Arg292Cys)
|
rs1683282264
|
|
NM_152490.5(B3GALNT2):c.882A>G (p.Gln294=)
|
rs2102790078
|
|
NM_152490.5(B3GALNT2):c.886C>T (p.Leu296Phe)
|
rs1683281659
|
|
NM_152490.5(B3GALNT2):c.895C>G (p.His299Asp)
|
rs1007114210
|
|
NM_152490.5(B3GALNT2):c.896A>G (p.His299Arg)
|
rs955249712
|
|
NM_152490.5(B3GALNT2):c.905A>G (p.Asn302Ser)
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NM_152490.5(B3GALNT2):c.907C>G (p.Leu303Val)
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NM_152490.5(B3GALNT2):c.91G>A (p.Ala31Thr)
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rs1685723778
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NM_152490.5(B3GALNT2):c.922G>A (p.Ala308Thr)
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NM_152490.5(B3GALNT2):c.94_96del (p.Ser32del)
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rs1169838120
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NM_152490.5(B3GALNT2):c.952GAT[1] (p.Asp319del)
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NM_152490.5(B3GALNT2):c.974T>C (p.Val325Ala)
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