NM_000156.6(GAMT):c.460-31G>A
|
rs55776826
|
0.14411
|
NM_000156.6(GAMT):c.*11C>T
|
rs149268921
|
0.01866
|
NM_000156.6(GAMT):c.570+165G>A
|
rs74253480
|
0.00981
|
NM_000156.6(GAMT):c.*89C>A
|
rs558767159
|
0.00362
|
NM_000156.6(GAMT):c.392-7C>T
|
rs192416474
|
0.00144
|
NM_000156.6(GAMT):c.348G>A (p.Leu116=)
|
rs117884619
|
0.00133
|
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199
|
0.00077
|
NM_000156.6(GAMT):c.*239C>T
|
rs550282678
|
0.00046
|
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu)
|
rs150338273
|
0.00036
|
NM_000156.6(GAMT):c.570+161T>A
|
rs368296913
|
0.00035
|
NM_000156.6(GAMT):c.182-18C>T
|
rs376709081
|
0.00033
|
NM_000156.6(GAMT):c.279C>T (p.Asp93=)
|
rs144630886
|
0.00028
|
NM_000156.6(GAMT):c.570+4C>T
|
rs199967562
|
0.00026
|
NM_000156.6(GAMT):c.328-10C>T
|
rs371511930
|
0.00019
|
NM_000156.6(GAMT):c.327G>A (p.Lys109=)
|
rs80338735
|
0.00017
|
NM_000156.6(GAMT):c.575C>T (p.Thr192Met)
|
rs141066224
|
0.00013
|
NM_000156.6(GAMT):c.707G>C (p.Gly236Ala)
|
rs201029006
|
0.00011
|
NM_000156.6(GAMT):c.242C>T (p.Ala81Val)
|
rs751099274
|
0.00009
|
NM_000156.6(GAMT):c.258T>C (p.His86=)
|
rs367871393
|
0.00009
|
NM_000156.6(GAMT):c.270G>A (p.Glu90=)
|
rs138754049
|
0.00009
|
NM_000156.6(GAMT):c.587C>T (p.Ala196Val)
|
rs565109128
|
0.00009
|
NM_000156.6(GAMT):c.662G>A (p.Arg221His)
|
rs766553422
|
0.00009
|
NM_000156.6(GAMT):c.201G>A (p.Val67=)
|
rs745986528
|
0.00007
|
NM_000156.6(GAMT):c.314G>A (p.Arg105Gln)
|
rs148838075
|
0.00007
|
NM_000156.6(GAMT):c.396C>A (p.Ile132=)
|
rs200500835
|
0.00007
|
NM_000156.6(GAMT):c.313C>T (p.Arg105Trp)
|
rs757909053
|
0.00006
|
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr)
|
rs141471799
|
0.00006
|
NM_000156.6(GAMT):c.331A>C (p.Ile111Leu)
|
rs201833033
|
0.00005
|
NM_000156.6(GAMT):c.511C>G (p.Leu171Val)
|
rs770110177
|
0.00005
|
NM_000156.6(GAMT):c.651G>A (p.Pro217=)
|
rs745327521
|
0.00005
|
NM_000156.6(GAMT):c.311C>T (p.Pro104Leu)
|
rs368864187
|
0.00004
|
NM_000156.6(GAMT):c.378C>T (p.Asp126=)
|
rs538244028
|
0.00004
|
NM_000156.6(GAMT):c.402C>T (p.Tyr134=)
|
rs556829801
|
0.00004
|
NM_000156.6(GAMT):c.419C>T (p.Ser140Leu)
|
rs747656257
|
0.00004
|
NM_000156.6(GAMT):c.585C>T (p.Pro195=)
|
rs371024035
|
0.00004
|
NM_000156.6(GAMT):c.655G>A (p.Asp219Asn)
|
rs753228876
|
0.00004
|
NM_000156.6(GAMT):c.*116C>T
|
rs902990738
|
0.00003
|
NM_000156.6(GAMT):c.*292C>T
|
rs908073212
|
0.00003
|
NM_000156.6(GAMT):c.181+20C>G
|
rs747307760
|
0.00003
|
NM_000156.6(GAMT):c.211A>G (p.Met71Val)
|
rs372027428
|
0.00003
|
NM_000156.6(GAMT):c.292C>T (p.Arg98Trp)
|
rs765070826
|
0.00003
|
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp)
|
rs552210450
|
0.00003
|
NM_000156.6(GAMT):c.328-19T>C
|
rs879927012
|
0.00003
|
NM_000156.6(GAMT):c.460-7T>G
|
rs1200384623
|
0.00003
|
NM_000156.6(GAMT):c.471T>G (p.Phe157Leu)
|
rs372260609
|
0.00003
|
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter)
|
rs1057524499
|
0.00003
|
NM_000156.6(GAMT):c.509A>C (p.Asn170Thr)
|
rs202199674
|
0.00003
|
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)
|
rs370421531
|
0.00003
|
NM_000156.6(GAMT):c.600C>T (p.Ala200=)
|
rs200679529
|
0.00003
|
NM_000156.6(GAMT):c.608G>A (p.Arg203Gln)
|
rs376499506
|
0.00003
|
NM_000156.6(GAMT):c.622C>T (p.Arg208Cys)
|
rs778279369
|
0.00003
|
NM_000156.6(GAMT):c.623G>A (p.Arg208His)
|
rs767887772
|
0.00003
|
NM_000156.6(GAMT):c.650C>T (p.Pro217Leu)
|
rs139890971
|
0.00003
|
NM_000156.6(GAMT):c.669C>T (p.Tyr223=)
|
rs762954251
|
0.00003
|
NM_000156.6(GAMT):c.187C>T (p.Arg63Trp)
|
rs777102623
|
0.00002
|
NM_000156.6(GAMT):c.189G>C (p.Arg63=)
|
rs568392459
|
0.00002
|
NM_000156.6(GAMT):c.217A>G (p.Ile73Val)
|
rs771107085
|
0.00002
|
NM_000156.6(GAMT):c.219C>T (p.Ile73=)
|
rs1417220310
|
0.00002
|
NM_000156.6(GAMT):c.220G>A (p.Ala74Thr)
|
rs749284008
|
0.00002
|
NM_000156.6(GAMT):c.225G>A (p.Ala75=)
|
rs202151546
|
0.00002
|
NM_000156.6(GAMT):c.328G>T (p.Val110Phe)
|
rs753198836
|
0.00002
|
NM_000156.6(GAMT):c.344G>A (p.Gly115Asp)
|
rs750625814
|
0.00002
|
NM_000156.6(GAMT):c.379G>A (p.Gly127Ser)
|
rs570476209
|
0.00002
|
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)
|
rs774144200
|
0.00002
|
NM_000156.6(GAMT):c.415C>T (p.Leu139Phe)
|
rs1300612017
|
0.00002
|
NM_000156.6(GAMT):c.472C>T (p.Arg158Cys)
|
rs758217156
|
0.00002
|
NM_000156.6(GAMT):c.486G>A (p.Pro162=)
|
rs368650653
|
0.00002
|
NM_000156.6(GAMT):c.493G>A (p.Val165Ile)
|
rs1050914
|
0.00002
|
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)
|
rs121909272
|
0.00002
|
NM_000156.6(GAMT):c.571-7C>T
|
rs767793408
|
0.00002
|
NM_000156.6(GAMT):c.576G>A (p.Thr192=)
|
rs771099195
|
0.00002
|
NM_000156.6(GAMT):c.642G>A (p.Leu214=)
|
rs746723263
|
0.00002
|
NM_000156.6(GAMT):c.661C>T (p.Arg221Cys)
|
rs751894166
|
0.00002
|
NM_000156.6(GAMT):c.*136C>A
|
rs566649324
|
0.00001
|
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu)
|
rs77168423
|
0.00001
|
NM_000156.6(GAMT):c.198G>A (p.Glu66=)
|
rs772132045
|
0.00001
|
NM_000156.6(GAMT):c.207T>C (p.Phe69=)
|
rs1334995399
|
0.00001
|
NM_000156.6(GAMT):c.224C>T (p.Ala75Val)
|
rs1441030187
|
0.00001
|
NM_000156.6(GAMT):c.226T>C (p.Ser76Pro)
|
rs1340590108
|
0.00001
|
NM_000156.6(GAMT):c.228A>T (p.Ser76=)
|
rs752364729
|
0.00001
|
NM_000156.6(GAMT):c.229A>G (p.Lys77Glu)
|
rs780909879
|
0.00001
|
NM_000156.6(GAMT):c.267C>T (p.Ile89=)
|
rs1457175740
|
0.00001
|
NM_000156.6(GAMT):c.282C>T (p.Gly94=)
|
rs771191011
|
0.00001
|
NM_000156.6(GAMT):c.283G>A (p.Val95Ile)
|
rs140778208
|
0.00001
|
NM_000156.6(GAMT):c.289C>T (p.Gln97Ter)
|
rs1215576338
|
0.00001
|
NM_000156.6(GAMT):c.293G>A (p.Arg98Gln)
|
rs200052696
|
0.00001
|
NM_000156.6(GAMT):c.312A>G (p.Pro104=)
|
rs779679242
|
0.00001
|
NM_000156.6(GAMT):c.317A>C (p.Gln106Pro)
|
rs145817990
|
0.00001
|
NM_000156.6(GAMT):c.324C>A (p.His108Gln)
|
rs1289804170
|
0.00001
|
NM_000156.6(GAMT):c.327+5C>T
|
rs1489553949
|
0.00001
|
NM_000156.6(GAMT):c.328-1G>A
|
rs756772965
|
0.00001
|
NM_000156.6(GAMT):c.347T>G (p.Leu116Arg)
|
rs765281181
|
0.00001
|
NM_000156.6(GAMT):c.354G>C (p.Glu118Asp)
|
rs1180941527
|
0.00001
|
NM_000156.6(GAMT):c.367A>G (p.Thr123Ala)
|
rs771827261
|
0.00001
|
NM_000156.6(GAMT):c.372G>A (p.Leu124=)
|
rs748762855
|
0.00001
|
NM_000156.6(GAMT):c.384C>T (p.His128=)
|
rs1310922766
|
0.00001
|
NM_000156.6(GAMT):c.391+15G>T
|
rs367567416
|
0.00001
|
NM_000156.6(GAMT):c.391+17C>T
|
rs374989534
|
0.00001
|
NM_000156.6(GAMT):c.391+18G>A
|
rs765964500
|
0.00001
|
NM_000156.6(GAMT):c.391+3G>A
|
rs1339573774
|
0.00001
|
NM_000156.6(GAMT):c.392-19G>T
|
rs1031492095
|
0.00001
|
NM_000156.6(GAMT):c.392-6G>A
|
rs753979877
|
0.00001
|
NM_000156.6(GAMT):c.407C>T (p.Thr136Met)
|
rs374724533
|
0.00001
|
NM_000156.6(GAMT):c.408G>A (p.Thr136=)
|
rs772974568
|
0.00001
|
NM_000156.6(GAMT):c.410A>C (p.Tyr137Ser)
|
rs1131691930
|
0.00001
|
NM_000156.6(GAMT):c.414A>G (p.Pro138=)
|
rs1376380710
|
0.00001
|
NM_000156.6(GAMT):c.426G>A (p.Glu142=)
|
rs372673897
|
0.00001
|
NM_000156.6(GAMT):c.428C>T (p.Thr143Ile)
|
rs746251691
|
0.00001
|
NM_000156.6(GAMT):c.437C>G (p.Thr146Arg)
|
rs149821870
|
0.00001
|
NM_000156.6(GAMT):c.438A>G (p.Thr146=)
|
rs80338733
|
0.00001
|
NM_000156.6(GAMT):c.459+17T>C
|
rs1057522464
|
0.00001
|
NM_000156.6(GAMT):c.460-6C>T
|
rs777981486
|
0.00001
|
NM_000156.6(GAMT):c.464A>T (p.His155Leu)
|
rs1308730662
|
0.00001
|
NM_000156.6(GAMT):c.470T>G (p.Phe157Cys)
|
rs751570656
|
0.00001
|
NM_000156.6(GAMT):c.473G>A (p.Arg158His)
|
rs750195151
|
0.00001
|
NM_000156.6(GAMT):c.475C>T (p.Leu159=)
|
rs765014324
|
0.00001
|
NM_000156.6(GAMT):c.492C>T (p.Gly164=)
|
rs1555777026
|
0.00001
|
NM_000156.6(GAMT):c.553A>C (p.Ile185Leu)
|
rs757108273
|
0.00001
|
NM_000156.6(GAMT):c.560T>C (p.Ile187Thr)
|
rs1421013354
|
0.00001
|
NM_000156.6(GAMT):c.570+9A>C
|
rs763489091
|
0.00001
|
NM_000156.6(GAMT):c.571-3C>G
|
rs1367661704
|
0.00001
|
NM_000156.6(GAMT):c.571-8C>T
|
rs1344390513
|
0.00001
|
NM_000156.6(GAMT):c.583C>G (p.Pro195Ala)
|
rs1285848023
|
0.00001
|
NM_000156.6(GAMT):c.586G>A (p.Ala196Thr)
|
rs1355291180
|
0.00001
|
NM_000156.6(GAMT):c.588G>A (p.Ala196=)
|
rs747909654
|
0.00001
|
NM_000156.6(GAMT):c.601G>A (p.Gly201Ser)
|
rs540554423
|
0.00001
|
NM_000156.6(GAMT):c.607C>T (p.Arg203Trp)
|
rs746633494
|
0.00001
|
NM_000156.6(GAMT):c.624T>C (p.Arg208=)
|
rs759873807
|
0.00001
|
NM_000156.6(GAMT):c.627G>A (p.Thr209=)
|
rs1012771142
|
0.00001
|
NM_000156.6(GAMT):c.636G>A (p.Met212Ile)
|
rs769713716
|
0.00001
|
NM_000156.6(GAMT):c.638C>T (p.Ala213Val)
|
rs761535571
|
0.00001
|
NM_000156.6(GAMT):c.639G>A (p.Ala213=)
|
rs373479245
|
0.00001
|
NM_000156.6(GAMT):c.649C>G (p.Pro217Ala)
|
rs1192722850
|
0.00001
|
NM_000156.6(GAMT):c.654C>T (p.Ala218=)
|
rs561375487
|
0.00001
|
NM_000156.6(GAMT):c.668dup (p.Tyr223Ter)
|
rs781163821
|
0.00001
|
NM_000156.6(GAMT):c.672C>T (p.Ala224=)
|
rs2082606258
|
0.00001
|
NM_000156.6(GAMT):c.675C>T (p.Phe225=)
|
rs761788121
|
0.00001
|
NM_000156.6(GAMT):c.689C>T (p.Thr230Met)
|
rs776537906
|
0.00001
|
NM_000156.6(GAMT):c.690G>A (p.Thr230=)
|
rs763944598
|
0.00001
|
NM_000156.6(GAMT):c.701C>T (p.Thr234Ile)
|
rs1401966018
|
0.00001
|
NC_000019.10:g.1399939del
|
|
|
NC_000019.9:g.(?_1398895)_(1401475_?)del
|
|
|
NM_000156.6(GAMT):c.*69G>A
|
rs577136428
|
|
NM_000156.6(GAMT):c.181+18T>G
|
rs2144640824
|
|
NM_000156.6(GAMT):c.182-10G>T
|
rs1479331383
|
|
NM_000156.6(GAMT):c.182-12G>A
|
|
|
NM_000156.6(GAMT):c.182-17G>A
|
|
|
NM_000156.6(GAMT):c.182-265_182-228del
|
rs1404813118
|
|
NM_000156.6(GAMT):c.182-2A>G
|
rs2082624299
|
|
NM_000156.6(GAMT):c.182-3_182dup
|
rs2082624287
|
|
NM_000156.6(GAMT):c.182-4C>T
|
|
|
NM_000156.6(GAMT):c.183G>A (p.Gly61=)
|
|
|
NM_000156.6(GAMT):c.183G>T (p.Gly61=)
|
rs2082624249
|
|
NM_000156.6(GAMT):c.195G>A (p.Leu65=)
|
rs2144638523
|
|
NM_000156.6(GAMT):c.199G>A (p.Val67Met)
|
|
|
NM_000156.6(GAMT):c.200T>A (p.Val67Glu)
|
rs2082624036
|
|
NM_000156.6(GAMT):c.202G>T (p.Gly68Cys)
|
|
|
NM_000156.6(GAMT):c.218T>C (p.Ile73Thr)
|
rs2082623820
|
|
NM_000156.6(GAMT):c.219C>G (p.Ile73Met)
|
|
|
NM_000156.6(GAMT):c.220G>C (p.Ala74Pro)
|
|
|
NM_000156.6(GAMT):c.221C>T (p.Ala74Val)
|
|
|
NM_000156.6(GAMT):c.222A>G (p.Ala74=)
|
|
|
NM_000156.6(GAMT):c.230A>G (p.Lys77Arg)
|
|
|
NM_000156.6(GAMT):c.232G>A (p.Val78Met)
|
rs141358977
|
|
NM_000156.6(GAMT):c.233T>A (p.Val78Glu)
|
|
|
NM_000156.6(GAMT):c.235C>T (p.Gln79Ter)
|
|
|
NM_000156.6(GAMT):c.237G>A (p.Gln79=)
|
|
|
NM_000156.6(GAMT):c.243G>A (p.Ala81=)
|
rs1048118950
|
|
NM_000156.6(GAMT):c.246C>A (p.Pro82=)
|
|
|
NM_000156.6(GAMT):c.246C>T (p.Pro82=)
|
|
|
NM_000156.6(GAMT):c.248T>C (p.Ile83Thr)
|
rs796052523
|
|
NM_000156.6(GAMT):c.250G>C (p.Asp84His)
|
rs762438523
|
|
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter)
|
rs761115975
|
|
NM_000156.6(GAMT):c.261G>C (p.Trp87Cys)
|
|
|
NM_000156.6(GAMT):c.262ATC[1] (p.Ile89del)
|
rs750232484
|
|
NM_000156.6(GAMT):c.264C>A (p.Ile88=)
|
|
|
NM_000156.6(GAMT):c.264C>T (p.Ile88=)
|
|
|
NM_000156.6(GAMT):c.267C>A (p.Ile89=)
|
rs1457175740
|
|
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys)
|
rs1569006974
|
|
NM_000156.6(GAMT):c.273C>T (p.Cys91=)
|
rs2144638258
|
|
NM_000156.6(GAMT):c.274A>G (p.Asn92Asp)
|
|
|
NM_000156.6(GAMT):c.276T>C (p.Asn92=)
|
rs767814433
|
|
NM_000156.6(GAMT):c.278A>T (p.Asp93Val)
|
|
|
NM_000156.6(GAMT):c.280G>A (p.Gly94Ser)
|
rs774689819
|
|
NM_000156.6(GAMT):c.288C>G (p.Phe96Leu)
|
rs1600159259
|
|
NM_000156.6(GAMT):c.289del (p.Gln97fs)
|
|
|
NM_000156.6(GAMT):c.291G>A (p.Gln97=)
|
rs796052524
|
|
NM_000156.6(GAMT):c.291G>T (p.Gln97His)
|
rs796052524
|
|
NM_000156.6(GAMT):c.292C>A (p.Arg98=)
|
|
|
NM_000156.6(GAMT):c.295C>T (p.Leu99Phe)
|
rs1085307596
|
|
NM_000156.6(GAMT):c.299G>A (p.Arg100Gln)
|
|
|
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)
|
rs80338736
|
|
NM_000156.6(GAMT):c.301del (p.Asp101fs)
|
rs780806777
|
|
NM_000156.6(GAMT):c.304T>C (p.Trp102Arg)
|
|
|
NM_000156.6(GAMT):c.305G>A (p.Trp102Ter)
|
rs2144638122
|
|
NM_000156.6(GAMT):c.306G>A (p.Trp102Ter)
|
|
|
NM_000156.6(GAMT):c.307del (p.Ala103fs)
|
rs2082622867
|
|
NM_000156.6(GAMT):c.308C>T (p.Ala103Val)
|
rs1298671907
|
|
NM_000156.6(GAMT):c.309C>G (p.Ala103=)
|
rs2144638101
|
|
NM_000156.6(GAMT):c.313_314insTG (p.Arg105fs)
|
rs2144638078
|
|
NM_000156.6(GAMT):c.315G>A (p.Arg105=)
|
rs559092619
|
|
NM_000156.6(GAMT):c.316C>T (p.Gln106Ter)
|
rs1369786965
|
|
NM_000156.6(GAMT):c.321A>G (p.Thr107=)
|
|
|
NM_000156.6(GAMT):c.324C>T (p.His108=)
|
|
|
NM_000156.6(GAMT):c.324_325del (p.His108fs)
|
rs2144638048
|
|
NM_000156.6(GAMT):c.327+11G>A
|
|
|
NM_000156.6(GAMT):c.327+14C>T
|
|
|
NM_000156.6(GAMT):c.327+15G>A
|
|
|
NM_000156.6(GAMT):c.327+15G>C
|
|
|
NM_000156.6(GAMT):c.327+15G>T
|
|
|
NM_000156.6(GAMT):c.327+17A>G
|
|
|
NM_000156.6(GAMT):c.327+18G>A
|
|
|
NM_000156.6(GAMT):c.327+19G>A
|
|
|
NM_000156.6(GAMT):c.327+19G>T
|
|
|
NM_000156.6(GAMT):c.327+1G>T
|
rs2144638033
|
|
NM_000156.6(GAMT):c.327+2T>G
|
|
|
NM_000156.6(GAMT):c.327+4C>T
|
rs767824933
|
|
NM_000156.6(GAMT):c.327+7C>T
|
|
|
NM_000156.6(GAMT):c.327+9C>T
|
|
|
NM_000156.6(GAMT):c.328-11C>T
|
|
|
NM_000156.6(GAMT):c.328-13del
|
|
|
NM_000156.6(GAMT):c.328-15T>C
|
|
|
NM_000156.6(GAMT):c.328-15T>G
|
|
|
NM_000156.6(GAMT):c.328-17C>A
|
|
|
NM_000156.6(GAMT):c.328-19_328-18del
|
rs911385649
|
|
NM_000156.6(GAMT):c.328-23_328-20del
|
|
|
NM_000156.6(GAMT):c.328-2A>G
|
rs2082621259
|
|
NM_000156.6(GAMT):c.328-5G>A
|
rs1321189630
|
|
NM_000156.6(GAMT):c.328-5G>C
|
|
|
NM_000156.6(GAMT):c.328-7C>G
|
|
|
NM_000156.6(GAMT):c.328-7C>T
|
|
|
NM_000156.6(GAMT):c.328-9C>T
|
rs1220189610
|
|
NM_000156.6(GAMT):c.332_338del (p.Ile111fs)
|
|
|
NM_000156.6(GAMT):c.339G>A (p.Leu113=)
|
rs572944977
|
|
NM_000156.6(GAMT):c.339G>C (p.Leu113Phe)
|
|
|
NM_000156.6(GAMT):c.346C>A (p.Leu116Met)
|
rs1467451589
|
|
NM_000156.6(GAMT):c.346C>T (p.Leu116=)
|
|
|
NM_000156.6(GAMT):c.347T>A (p.Leu116Gln)
|
rs765281181
|
|
NM_000156.6(GAMT):c.350G>A (p.Trp117Ter)
|
rs2144637546
|
|
NM_000156.6(GAMT):c.356A>G (p.Asp119Gly)
|
rs2082620997
|
|
NM_000156.6(GAMT):c.356dup (p.Asp119fs)
|
rs2144637533
|
|
NM_000156.6(GAMT):c.358G>A (p.Val120Met)
|
rs2082620964
|
|
NM_000156.6(GAMT):c.360G>A (p.Val120=)
|
rs776439107
|
|
NM_000156.6(GAMT):c.366C>G (p.Pro122=)
|
|
|
NM_000156.6(GAMT):c.369C>G (p.Thr123=)
|
|
|
NM_000156.6(GAMT):c.369C>T (p.Thr123=)
|
|
|
NM_000156.6(GAMT):c.370del (p.Leu124fs)
|
|
|
NM_000156.6(GAMT):c.372G>C (p.Leu124=)
|
rs748762855
|
|
NM_000156.6(GAMT):c.385T>G (p.Phe129Val)
|
rs2144637427
|
|
NM_000156.6(GAMT):c.389A>C (p.Asp130Ala)
|
rs2082620621
|
|
NM_000156.6(GAMT):c.391+18G>C
|
|
|
NM_000156.6(GAMT):c.391+1G>C
|
rs1600158894
|
|
NM_000156.6(GAMT):c.391+20A>G
|
|
|
NM_000156.6(GAMT):c.391+47A>G
|
rs73515058
|
|
NM_000156.6(GAMT):c.391+8G>C
|
rs1333892851
|
|
NM_000156.6(GAMT):c.391+9_391+15del
|
rs2144637383
|
|
NM_000156.6(GAMT):c.391G>C (p.Gly131Arg)
|
|
|
NM_000156.6(GAMT):c.392-10C>T
|
|
|
NM_000156.6(GAMT):c.392-11T>C
|
|
|
NM_000156.6(GAMT):c.392-13G>A
|
|
|
NM_000156.6(GAMT):c.392-13G>T
|
|
|
NM_000156.6(GAMT):c.392-14T>C
|
|
|
NM_000156.6(GAMT):c.392-15C>T
|
|
|
NM_000156.6(GAMT):c.392-15_392-14del
|
|
|
NM_000156.6(GAMT):c.392-17T>G
|
|
|
NM_000156.6(GAMT):c.392-19G>A
|
rs1031492095
|
|
NM_000156.6(GAMT):c.392-1G>A
|
rs1600158650
|
|
NM_000156.6(GAMT):c.392-2A>G
|
rs2082618808
|
|
NM_000156.6(GAMT):c.392-5T>G
|
|
|
NM_000156.6(GAMT):c.392-6G>C
|
rs753979877
|
|
NM_000156.6(GAMT):c.392-9T>C
|
|
|
NM_000156.6(GAMT):c.392-9T>G
|
rs2082618862
|
|
NM_000156.6(GAMT):c.393G>T (p.Gly131=)
|
|
|
NM_000156.6(GAMT):c.397C>T (p.Leu133=)
|
rs2144636902
|
|
NM_000156.6(GAMT):c.399G>T (p.Leu133=)
|
rs2144636896
|
|
NM_000156.6(GAMT):c.402C>A (p.Tyr134Ter)
|
rs556829801
|
|
NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter)
|
rs556829801
|
|
NM_000156.6(GAMT):c.403G>C (p.Asp135His)
|
|
|
NM_000156.6(GAMT):c.403G>T (p.Asp135Tyr)
|
|
|
NM_000156.6(GAMT):c.411C>G (p.Tyr137Ter)
|
|
|
NM_000156.6(GAMT):c.414_415del (p.Ser140fs)
|
rs2144636856
|
|
NM_000156.6(GAMT):c.418T>A (p.Ser140Thr)
|
|
|
NM_000156.6(GAMT):c.419C>A (p.Ser140Ter)
|
rs747656257
|
|
NM_000156.6(GAMT):c.421GAG[1] (p.Glu142del)
|
|
|
NM_000156.6(GAMT):c.429C>G (p.Thr143=)
|
rs779376340
|
|
NM_000156.6(GAMT):c.429C>T (p.Thr143=)
|
|
|
NM_000156.6(GAMT):c.432G>A (p.Trp144Ter)
|
rs1600158570
|
|
NM_000156.6(GAMT):c.432_433dup (p.His145fs)
|
rs2144636785
|
|
NM_000156.6(GAMT):c.435C>G (p.His145Gln)
|
rs2144636777
|
|
NM_000156.6(GAMT):c.439C>T (p.His147Tyr)
|
|
|
NM_000156.6(GAMT):c.440_441del (p.His147fs)
|
rs1487842051
|
|
NM_000156.6(GAMT):c.440_441dup (p.Gln148fs)
|
rs1487842051
|
|
NM_000156.6(GAMT):c.441C>A (p.His147Gln)
|
rs1555777047
|
|
NM_000156.6(GAMT):c.442dup (p.Gln148fs)
|
rs2082618262
|
|
NM_000156.6(GAMT):c.444_448del (p.Phe149fs)
|
|
|
NM_000156.6(GAMT):c.449A>G (p.Asn150Ser)
|
|
|
NM_000156.6(GAMT):c.456C>A (p.Ile152=)
|
rs1198352263
|
|
NM_000156.6(GAMT):c.456C>G (p.Ile152Met)
|
|
|
NM_000156.6(GAMT):c.459+11C>T
|
|
|
NM_000156.6(GAMT):c.459+12dup
|
|
|
NM_000156.6(GAMT):c.459+19C>T
|
|
|
NM_000156.6(GAMT):c.459+1G>A
|
|
|
NM_000156.6(GAMT):c.459+3G>T
|
rs756194610
|
|
NM_000156.6(GAMT):c.459+8T>C
|
rs2144636697
|
|
NM_000156.6(GAMT):c.459+9_459+12del
|
rs762239322
|
|
NM_000156.6(GAMT):c.460-12C>G
|
|
|
NM_000156.6(GAMT):c.460-15A>G
|
|
|
NM_000156.6(GAMT):c.460-3C>T
|
|
|
NM_000156.6(GAMT):c.460-5C>T
|
|
|
NM_000156.6(GAMT):c.460-9C>G
|
rs900568054
|
|
NM_000156.6(GAMT):c.460-9C>T
|
rs900568054
|
|
NM_000156.6(GAMT):c.462C>G (p.Asn154Lys)
|
rs748256259
|
|
NM_000156.6(GAMT):c.462C>T (p.Asn154=)
|
rs748256259
|
|
NM_000156.6(GAMT):c.463C>G (p.His155Asp)
|
rs1374777721
|
|
NM_000156.6(GAMT):c.463C>T (p.His155Tyr)
|
rs1374777721
|
|
NM_000156.6(GAMT):c.465C>T (p.His155=)
|
rs1454250040
|
|
NM_000156.6(GAMT):c.466G>A (p.Ala156Thr)
|
|
|
NM_000156.6(GAMT):c.470_476del (p.Phe157fs)
|
rs2144636455
|
|
NM_000156.6(GAMT):c.475del (p.Leu159fs)
|
|
|
NM_000156.6(GAMT):c.476T>C (p.Leu159Pro)
|
rs2144636453
|
|
NM_000156.6(GAMT):c.479T>G (p.Leu160Arg)
|
|
|
NM_000156.6(GAMT):c.484C>T (p.Pro162Ser)
|
rs1727242337
|
|
NM_000156.6(GAMT):c.486G>C (p.Pro162=)
|
rs368650653
|
|
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp)
|
rs760101382
|
|
NM_000156.6(GAMT):c.491G>T (p.Gly164Val)
|
rs760101382
|
|
NM_000156.6(GAMT):c.491del (p.Gly164fs)
|
rs749390953
|
|
NM_000156.6(GAMT):c.491dup (p.Val165fs)
|
rs749390953
|
|
NM_000156.6(GAMT):c.492C>G (p.Gly164=)
|
rs1555777026
|
|
NM_000156.6(GAMT):c.497T>C (p.Leu166Pro)
|
rs1483148182
|
|
NM_000156.6(GAMT):c.503_517del (p.Tyr168_Thr172del)
|
|
|
NM_000156.6(GAMT):c.504C>G (p.Tyr168Ter)
|
rs2082617068
|
|
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg)
|
rs1600158346
|
|
NM_000156.6(GAMT):c.507C>T (p.Cys169=)
|
rs1555777024
|
|
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup)
|
rs779931959
|
|
NM_000156.6(GAMT):c.509A>G (p.Asn170Ser)
|
rs202199674
|
|
NM_000156.6(GAMT):c.513C>A (p.Leu171=)
|
|
|
NM_000156.6(GAMT):c.513C>T (p.Leu171=)
|
rs748417607
|
|
NM_000156.6(GAMT):c.515C>T (p.Thr172Ile)
|
|
|
NM_000156.6(GAMT):c.516C>A (p.Thr172=)
|
rs2144636311
|
|
NM_000156.6(GAMT):c.516C>T (p.Thr172=)
|
rs2144636311
|
|
NM_000156.6(GAMT):c.519C>T (p.Ser173=)
|
|
|
NM_000156.6(GAMT):c.520T>C (p.Trp174Arg)
|
rs891042971
|
|
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter)
|
rs200444143
|
|
NM_000156.6(GAMT):c.521G>T (p.Trp174Leu)
|
rs200444143
|
|
NM_000156.6(GAMT):c.522G>C (p.Trp174Cys)
|
|
|
NM_000156.6(GAMT):c.523G>T (p.Gly175Trp)
|
rs758371494
|
|
NM_000156.6(GAMT):c.525G>A (p.Gly175=)
|
rs2144636249
|
|
NM_000156.6(GAMT):c.525G>C (p.Gly175=)
|
rs2144636249
|
|
NM_000156.6(GAMT):c.526G>T (p.Glu176Ter)
|
rs796052525
|
|
NM_000156.6(GAMT):c.526del (p.Glu176fs)
|
rs2144636246
|
|
NM_000156.6(GAMT):c.526dup (p.Glu176fs)
|
rs2144636246
|
|
NM_000156.6(GAMT):c.527A>G (p.Glu176Gly)
|
|
|
NM_000156.6(GAMT):c.529C>T (p.Leu177=)
|
rs750356640
|
|
NM_000156.6(GAMT):c.530T>G (p.Leu177Arg)
|
rs1555777015
|
|
NM_000156.6(GAMT):c.531G>A (p.Leu177=)
|
rs2144636218
|
|
NM_000156.6(GAMT):c.534dup (p.Lys179fs)
|
rs2144636214
|
|
NM_000156.6(GAMT):c.536del (p.Lys179fs)
|
rs2144636198
|
|
NM_000156.6(GAMT):c.537G>A (p.Lys179=)
|
rs2144636191
|
|
NM_000156.6(GAMT):c.540C>T (p.Ser180=)
|
rs2144636187
|
|
NM_000156.6(GAMT):c.552C>T (p.Asp184=)
|
|
|
NM_000156.6(GAMT):c.555C>T (p.Ile185=)
|
rs2144636150
|
|
NM_000156.6(GAMT):c.562A>G (p.Met188Val)
|
rs1366312192
|
|
NM_000156.6(GAMT):c.563T>A (p.Met188Lys)
|
rs1163644565
|
|
NM_000156.6(GAMT):c.563T>C (p.Met188Thr)
|
|
|
NM_000156.6(GAMT):c.564G>T (p.Met188Ile)
|
|
|
NM_000156.6(GAMT):c.570+11C>G
|
|
|
NM_000156.6(GAMT):c.570+11C>T
|
|
|
NM_000156.6(GAMT):c.570+17T>C
|
|
|
NM_000156.6(GAMT):c.570+1G>A
|
rs2144636105
|
|
NM_000156.6(GAMT):c.570+5G>A
|
rs199678332
|
|
NM_000156.6(GAMT):c.570+5G>T
|
rs199678332
|
|
NM_000156.6(GAMT):c.570+6C>T
|
|
|
NM_000156.6(GAMT):c.571-10C>T
|
|
|
NM_000156.6(GAMT):c.571-12A>G
|
|
|
NM_000156.6(GAMT):c.571-3C>A
|
|
|
NM_000156.6(GAMT):c.571-5A>G
|
|
|
NM_000156.6(GAMT):c.571-6G>C
|
rs2074899
|
|
NM_000156.6(GAMT):c.571-7_571-6delinsTA
|
rs2144633742
|
|
NM_000156.6(GAMT):c.571-9C>T
|
rs775582832
|
|
NM_000156.6(GAMT):c.571G>A (p.Glu191Lys)
|
|
|
NM_000156.6(GAMT):c.577C>G (p.Gln193Glu)
|
|
|
NM_000156.6(GAMT):c.577C>T (p.Gln193Ter)
|
|
|
NM_000156.6(GAMT):c.578A>G (p.Gln193Arg)
|
rs2082607477
|
|
NM_000156.6(GAMT):c.579G>A (p.Gln193=)
|
rs1215212718
|
|
NM_000156.6(GAMT):c.584C>T (p.Pro195Leu)
|
rs1569003317
|
|
NM_000156.6(GAMT):c.588G>T (p.Ala196=)
|
rs747909654
|
|
NM_000156.6(GAMT):c.590T>C (p.Leu197Pro)
|
|
|
NM_000156.6(GAMT):c.591G>A (p.Leu197=)
|
rs2144633664
|
|
NM_000156.6(GAMT):c.593T>C (p.Leu198Pro)
|
rs1030954874
|
|
NM_000156.6(GAMT):c.593T>G (p.Leu198Arg)
|
|
|
NM_000156.6(GAMT):c.594G>A (p.Leu198=)
|
rs1569003278
|
|
NM_000156.6(GAMT):c.595G>A (p.Glu199Lys)
|
|
|
NM_000156.6(GAMT):c.595dup (p.Glu199fs)
|
|
|
NM_000156.6(GAMT):c.602G>A (p.Gly201Asp)
|
rs2082607153
|
|
NM_000156.6(GAMT):c.606C>T (p.Phe202=)
|
|
|
NM_000156.6(GAMT):c.608_621del (p.Arg203fs)
|
|
|
NM_000156.6(GAMT):c.609dup (p.Arg204fs)
|
rs745740974
|
|
NM_000156.6(GAMT):c.610A>G (p.Arg204Gly)
|
|
|
NM_000156.6(GAMT):c.610_611delinsGAA (p.Arg204fs)
|
|
|
NM_000156.6(GAMT):c.615G>A (p.Glu205=)
|
rs1390338375
|
|
NM_000156.6(GAMT):c.617A>G (p.Asn206Ser)
|
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NM_000156.6(GAMT):c.622C>A (p.Arg208Ser)
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rs778279369
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NM_000156.6(GAMT):c.623G>T (p.Arg208Leu)
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NM_000156.6(GAMT):c.630G>A (p.Glu210=)
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NM_000156.6(GAMT):c.631G>C (p.Val211Leu)
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rs2144633525
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NM_000156.6(GAMT):c.635T>A (p.Met212Lys)
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NM_000156.6(GAMT):c.648A>G (p.Pro216=)
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NM_000156.6(GAMT):c.650C>A (p.Pro217Gln)
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rs139890971
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NM_000156.6(GAMT):c.651G>T (p.Pro217=)
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NM_000156.6(GAMT):c.654C>G (p.Ala218=)
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rs561375487
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NM_000156.6(GAMT):c.657C>A (p.Asp219Glu)
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NM_000156.6(GAMT):c.666C>T (p.Tyr222=)
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NM_000156.6(GAMT):c.669C>G (p.Tyr223Ter)
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rs762954251
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NM_000156.6(GAMT):c.670G>C (p.Ala224Pro)
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rs141471799
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NM_000156.6(GAMT):c.677C>T (p.Pro226Leu)
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rs796052528
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NM_000156.6(GAMT):c.678A>G (p.Pro226=)
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NM_000156.6(GAMT):c.690G>T (p.Thr230=)
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NM_000156.6(GAMT):c.692C>T (p.Pro231Leu)
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NM_000156.6(GAMT):c.693C>T (p.Pro231=)
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NM_000156.6(GAMT):c.697G>A (p.Val233Met)
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rs771709696
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NM_000156.6(GAMT):c.702C>T (p.Thr234=)
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rs1375010161
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NM_000156.6(GAMT):c.705A>T (p.Lys235Asn)
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