NM_018972.4(GDAP1):c.694+24C>T
|
rs4463412
|
0.99998
|
NM_018972.4(GDAP1):c.*797A>G
|
rs7007283
|
0.99395
|
NM_018972.4(GDAP1):c.*1855A>G
|
rs6472842
|
0.30274
|
NM_018972.4(GDAP1):c.507T>G (p.Ser169=)
|
rs11554166
|
0.27295
|
NM_018972.4(GDAP1):c.*2214A>G
|
rs10504580
|
0.26909
|
NM_018972.4(GDAP1):c.*1878G>T
|
rs16938896
|
0.18293
|
NM_018972.4(GDAP1):c.*357A>G
|
rs1135715
|
0.18199
|
NM_018972.4(GDAP1):c.*830C>G
|
rs4737414
|
0.18198
|
NM_018972.4(GDAP1):c.*1173G>T
|
rs72665430
|
0.06104
|
NM_018972.4(GDAP1):c.485-20C>G
|
rs73345392
|
0.04498
|
NM_018972.4(GDAP1):c.*1647C>T
|
rs115466662
|
0.02649
|
NM_018972.4(GDAP1):c.*2408G>A
|
rs11996204
|
0.02523
|
NM_018972.4(GDAP1):c.*2298A>G
|
rs4551344
|
0.00796
|
NM_018972.4(GDAP1):c.*561C>G
|
rs80136809
|
0.00699
|
NM_018972.4(GDAP1):c.*444A>G
|
rs113377784
|
0.00620
|
NM_018972.4(GDAP1):c.*1162T>C
|
rs113017051
|
0.00611
|
NM_018972.4(GDAP1):c.*2244T>C
|
rs113763295
|
0.00513
|
NM_018972.4(GDAP1):c.*723G>A
|
rs116863614
|
0.00512
|
NM_018972.4(GDAP1):c.*920C>G
|
rs6982840
|
0.00506
|
NM_018972.4(GDAP1):c.*61C>T
|
rs73345399
|
0.00483
|
NM_018972.4(GDAP1):c.*1819T>C
|
rs141157275
|
0.00466
|
NM_018972.4(GDAP1):c.*1006C>T
|
rs145523828
|
0.00367
|
NM_018972.4(GDAP1):c.*1141C>T
|
rs566147187
|
0.00141
|
NM_018972.4(GDAP1):c.*331C>T
|
rs1052033443
|
0.00119
|
NM_018972.4(GDAP1):c.310+6del
|
rs780828430
|
0.00109
|
NM_018972.4(GDAP1):c.*931A>G
|
rs532787830
|
0.00097
|
NM_018972.4(GDAP1):c.*751A>G
|
rs544136357
|
0.00078
|
NM_018972.4(GDAP1):c.*1430T>A
|
rs538689570
|
0.00073
|
NM_018972.4(GDAP1):c.*2210C>T
|
rs571939530
|
0.00062
|
NM_018972.4(GDAP1):c.459G>A (p.Pro153=)
|
rs149804782
|
0.00057
|
NM_018972.4(GDAP1):c.*2463A>G
|
rs9643686
|
0.00052
|
NM_018972.4(GDAP1):c.474A>G (p.Thr158=)
|
rs202215041
|
0.00052
|
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile)
|
rs144199299
|
0.00046
|
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val)
|
rs148508128
|
0.00040
|
NM_018972.4(GDAP1):c.*1429A>G
|
rs78545774
|
0.00029
|
NM_018972.4(GDAP1):c.*873T>C
|
rs573385308
|
0.00028
|
NM_018972.4(GDAP1):c.*1701T>C
|
rs781146378
|
0.00025
|
NM_018972.4(GDAP1):c.*1415C>T
|
rs558846970
|
0.00023
|
NM_018972.4(GDAP1):c.*18C>T
|
rs147945220
|
0.00019
|
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile)
|
rs139808557
|
0.00017
|
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val)
|
rs144037310
|
0.00016
|
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077
|
0.00015
|
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
|
rs121908114
|
0.00015
|
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=)
|
rs374624466
|
0.00014
|
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)
|
rs199529910
|
0.00012
|
NM_018972.4(GDAP1):c.594T>C (p.Asp198=)
|
rs565901784
|
0.00011
|
NM_018972.4(GDAP1):c.744C>T (p.Asp248=)
|
rs370099528
|
0.00011
|
NM_018972.4(GDAP1):c.*1183G>A
|
rs756257305
|
0.00009
|
NM_018972.4(GDAP1):c.*618C>T
|
rs886063106
|
0.00009
|
NM_018972.4(GDAP1):c.693A>T (p.Pro231=)
|
rs181157785
|
0.00009
|
NM_018972.4(GDAP1):c.894T>C (p.Asn298=)
|
rs756599272
|
0.00009
|
NM_018972.2(GDAP1):c.*2675C>T
|
rs957273627
|
0.00006
|
NM_018972.4(GDAP1):c.*1905A>G
|
rs185710169
|
0.00006
|
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val)
|
rs112786851
|
0.00006
|
NM_018972.4(GDAP1):c.694+5G>A
|
rs752550394
|
0.00006
|
NM_018972.4(GDAP1):c.720C>T (p.Cys240=)
|
rs367790253
|
0.00006
|
NM_018972.4(GDAP1):c.810C>T (p.Asn270=)
|
rs144111413
|
0.00006
|
NM_018972.4(GDAP1):c.885T>C (p.His295=)
|
rs752758036
|
0.00006
|
NM_018972.4(GDAP1):c.*1301A>G
|
rs779268019
|
0.00005
|
NM_018972.4(GDAP1):c.*1416G>A
|
rs575631045
|
0.00005
|
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser)
|
rs140811185
|
0.00005
|
NM_018972.2(GDAP1):c.*2723T>C
|
rs886063119
|
0.00004
|
NM_018972.4(GDAP1):c.*1372A>G
|
rs896559706
|
0.00004
|
NM_018972.4(GDAP1):c.*860T>C
|
rs554748057
|
0.00004
|
NM_018972.4(GDAP1):c.1045T>C (p.Leu349=)
|
rs368943246
|
0.00004
|
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala)
|
rs371138642
|
0.00004
|
NM_018972.4(GDAP1):c.579+9A>G
|
rs768849850
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg)
|
rs775622226
|
0.00004
|
NM_018972.4(GDAP1):c.928C>T (p.Arg310Trp)
|
rs538389475
|
0.00004
|
NM_018972.4(GDAP1):c.*1080G>A
|
rs766481914
|
0.00003
|
NM_018972.4(GDAP1):c.*1437A>C
|
rs557040712
|
0.00003
|
NM_018972.4(GDAP1):c.*1570G>C
|
rs886063114
|
0.00003
|
NM_018972.4(GDAP1):c.*644G>T
|
rs913538379
|
0.00003
|
NM_018972.4(GDAP1):c.*663T>C
|
rs886063107
|
0.00003
|
NM_018972.4(GDAP1):c.501del (p.Glu168fs)
|
rs886041386
|
0.00003
|
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser)
|
rs533081002
|
0.00003
|
NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter)
|
rs150989205
|
0.00003
|
NM_018972.4(GDAP1):c.845G>A (p.Arg282His)
|
rs375431837
|
0.00003
|
NM_018972.4(GDAP1):c.*1030T>C
|
rs576789317
|
0.00002
|
NM_018972.4(GDAP1):c.*697A>G
|
rs766828605
|
0.00002
|
NM_018972.4(GDAP1):c.165T>C (p.Asp55=)
|
rs138538469
|
0.00002
|
NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr)
|
rs751297226
|
0.00002
|
NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln)
|
rs771810975
|
0.00002
|
NM_018972.4(GDAP1):c.389C>A (p.Ser130Tyr)
|
rs147295250
|
0.00002
|
NM_018972.4(GDAP1):c.513G>A (p.Leu171=)
|
rs778079435
|
0.00002
|
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)
|
rs104894075
|
0.00002
|
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys)
|
rs762473236
|
0.00002
|
NM_018972.4(GDAP1):c.782T>C (p.Leu261Pro)
|
rs745398081
|
0.00002
|
NM_018972.4(GDAP1):c.915G>T (p.Leu305=)
|
rs745516657
|
0.00002
|
NM_018972.2(GDAP1):c.*2542A>G
|
rs909463010
|
0.00001
|
NM_018972.2(GDAP1):c.*2702T>C
|
rs1809669202
|
0.00001
|
NM_018972.4(GDAP1):c.*1289T>C
|
rs1439179536
|
0.00001
|
NM_018972.4(GDAP1):c.*1527G>A
|
rs886063113
|
0.00001
|
NM_018972.4(GDAP1):c.*1923C>T
|
rs886063116
|
0.00001
|
NM_018972.4(GDAP1):c.*195T>C
|
rs1201095819
|
0.00001
|
NM_018972.4(GDAP1):c.*1968C>T
|
rs567166158
|
0.00001
|
NM_018972.4(GDAP1):c.*1976C>T
|
rs527937918
|
0.00001
|
NM_018972.4(GDAP1):c.*2125A>C
|
rs1231558825
|
0.00001
|
NM_018972.4(GDAP1):c.*926C>A
|
rs1487448268
|
0.00001
|
NM_018972.4(GDAP1):c.*961G>C
|
rs886063110
|
0.00001
|
NM_018972.4(GDAP1):c.120G>A (p.Val40=)
|
rs1031865271
|
0.00001
|
NM_018972.4(GDAP1):c.151T>C (p.Cys51Arg)
|
rs960211384
|
0.00001
|
NM_018972.4(GDAP1):c.153C>T (p.Cys51=)
|
rs1413222465
|
0.00001
|
NM_018972.4(GDAP1):c.161A>G (p.His54Arg)
|
rs1441803924
|
0.00001
|
NM_018972.4(GDAP1):c.191A>G (p.Asn64Ser)
|
rs769632836
|
0.00001
|
NM_018972.4(GDAP1):c.209G>T (p.Arg70Leu)
|
rs775739690
|
0.00001
|
NM_018972.4(GDAP1):c.216C>T (p.Asn72=)
|
rs760859999
|
0.00001
|
NM_018972.4(GDAP1):c.225A>G (p.Gly75=)
|
rs761890773
|
0.00001
|
NM_018972.4(GDAP1):c.311-15G>A
|
rs373622064
|
0.00001
|
NM_018972.4(GDAP1):c.311-1G>A
|
rs1370011538
|
0.00001
|
NM_018972.4(GDAP1):c.326T>A (p.Leu109Ter)
|
rs751986220
|
0.00001
|
NM_018972.4(GDAP1):c.338A>G (p.Lys113Arg)
|
rs1290008555
|
0.00001
|
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)
|
rs281865060
|
0.00001
|
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
|
rs936681187
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)
|
rs745663149
|
0.00001
|
NM_018972.4(GDAP1):c.385G>A (p.Asp129Asn)
|
rs1279013936
|
0.00001
|
NM_018972.4(GDAP1):c.400G>T (p.Asp134Tyr)
|
rs1809295867
|
0.00001
|
NM_018972.4(GDAP1):c.419G>T (p.Cys140Phe)
|
rs1375032292
|
0.00001
|
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)
|
rs538412810
|
0.00001
|
NM_018972.4(GDAP1):c.471T>G (p.Thr157=)
|
rs886293648
|
0.00001
|
NM_018972.4(GDAP1):c.484+4T>C
|
rs1318164702
|
0.00001
|
NM_018972.4(GDAP1):c.485-6T>C
|
rs763802909
|
0.00001
|
NM_018972.4(GDAP1):c.523G>C (p.Ala175Pro)
|
rs1362886530
|
0.00001
|
NM_018972.4(GDAP1):c.526G>A (p.Glu176Lys)
|
rs1475695228
|
0.00001
|
NM_018972.4(GDAP1):c.544C>T (p.Gln182Ter)
|
rs779894269
|
0.00001
|
NM_018972.4(GDAP1):c.577A>C (p.Lys193Gln)
|
rs1085307665
|
0.00001
|
NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser)
|
rs878855054
|
0.00001
|
NM_018972.4(GDAP1):c.619A>G (p.Lys207Glu)
|
rs1443360585
|
0.00001
|
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr)
|
rs140384868
|
0.00001
|
NM_018972.4(GDAP1):c.680A>G (p.Asn227Ser)
|
rs1026680509
|
0.00001
|
NM_018972.4(GDAP1):c.695-9T>A
|
rs906225606
|
0.00001
|
NM_018972.4(GDAP1):c.710C>G (p.Pro237Arg)
|
rs763963750
|
0.00001
|
NM_018972.4(GDAP1):c.745G>A (p.Val249Ile)
|
rs753181104
|
0.00001
|
NM_018972.4(GDAP1):c.753C>T (p.Leu251=)
|
rs1285748573
|
0.00001
|
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr)
|
rs778105019
|
0.00001
|
NM_018972.4(GDAP1):c.767A>G (p.His256Arg)
|
rs1476856429
|
0.00001
|
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)
|
rs770501034
|
0.00001
|
NM_018972.4(GDAP1):c.770G>A (p.Arg257Gln)
|
rs1425323007
|
0.00001
|
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)
|
rs28937906
|
0.00001
|
NM_018972.4(GDAP1):c.846T>A (p.Arg282=)
|
rs751766713
|
0.00001
|
NM_018972.4(GDAP1):c.864A>G (p.Thr288=)
|
rs1452402318
|
0.00001
|
NM_018972.4(GDAP1):c.874G>A (p.Val292Ile)
|
rs767553697
|
0.00001
|
NM_018972.4(GDAP1):c.892A>C (p.Asn298His)
|
rs1470584902
|
0.00001
|
NM_018972.4(GDAP1):c.907G>T (p.Ala303Ser)
|
rs368055667
|
0.00001
|
NM_018972.4(GDAP1):c.919A>G (p.Thr307Ala)
|
rs1356175561
|
0.00001
|
NM_018972.4(GDAP1):c.985C>T (p.Leu329Phe)
|
rs879254196
|
0.00001
|
NC_000008.10:g.(?_75262697)_(75276602_?)del
|
|
|
NC_000008.10:g.(?_75272366)_(75272551_?)del
|
|
|
NC_000008.11:g.(?_74349383)_(74368110_?)dup
|
|
|
NC_000008.11:g.74350373_74350374del
|
rs577136201
|
|
NC_000008.9:g.(75248716_75262617)_(75559358_75586021)del
|
|
|
NM_001362931.2(GDAP1):c.694+932_694+1314del
|
|
|
NM_018972.4(GDAP1):c.*1043G>C
|
rs762978513
|
|
NM_018972.4(GDAP1):c.*1124G>T
|
rs886063111
|
|
NM_018972.4(GDAP1):c.*1165C>G
|
rs1809586700
|
|
NM_018972.4(GDAP1):c.*1377C>T
|
rs886063112
|
|
NM_018972.4(GDAP1):c.*1639A>G
|
rs145245478
|
|
NM_018972.4(GDAP1):c.*1639A>T
|
rs145245478
|
|
NM_018972.4(GDAP1):c.*1779G>T
|
rs886063115
|
|
NM_018972.4(GDAP1):c.*2170A>G
|
rs886063117
|
|
NM_018972.4(GDAP1):c.*2298A>C
|
rs4551344
|
|
NM_018972.4(GDAP1):c.*451C>T
|
rs1809544520
|
|
NM_018972.4(GDAP1):c.*858G>T
|
rs761964880
|
|
NM_018972.4(GDAP1):c.*864G>C
|
rs886063108
|
|
NM_018972.4(GDAP1):c.*898A>G
|
rs886063109
|
|
NM_018972.4(GDAP1):c.1014G>A (p.Met338Ile)
|
|
|
NM_018972.4(GDAP1):c.1014G>C (p.Met338Ile)
|
rs759748392
|
|
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs)
|
rs756461496
|
|
NM_018972.4(GDAP1):c.1037G>A (p.Ser346Asn)
|
rs1380854548
|
|
NM_018972.4(GDAP1):c.1042A>G (p.Ile348Val)
|
rs775559344
|
|
NM_018972.4(GDAP1):c.1048G>A (p.Ala350Thr)
|
|
|
NM_018972.4(GDAP1):c.1063C>A (p.Pro355Thr)
|
rs1219244427
|
|
NM_018972.4(GDAP1):c.1063C>T (p.Pro355Ser)
|
rs1219244427
|
|
NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp)
|
rs765609133
|
|
NM_018972.4(GDAP1):c.1067A>G (p.Asn356Ser)
|
|
|
NM_018972.4(GDAP1):c.118-15T>C
|
|
|
NM_018972.4(GDAP1):c.118-16G>A
|
rs757760120
|
|
NM_018972.4(GDAP1):c.118-1G>A
|
|
|
NM_018972.4(GDAP1):c.118-3C>G
|
rs750762719
|
|
NM_018972.4(GDAP1):c.118-7C>G
|
|
|
NM_018972.4(GDAP1):c.118-8T>G
|
|
|
NM_018972.4(GDAP1):c.118-9C>A
|
|
|
NM_018972.4(GDAP1):c.139A>T (p.Lys47Ter)
|
|
|
NM_018972.4(GDAP1):c.166G>A (p.Val56Ile)
|
rs1808860135
|
|
NM_018972.4(GDAP1):c.167dup (p.Ser57fs)
|
|
|
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg)
|
rs863224774
|
|
NM_018972.4(GDAP1):c.171T>G (p.Ser57Arg)
|
rs774799079
|
|
NM_018972.4(GDAP1):c.172_173delinsTTA (p.Pro59fs)
|
rs1586795201
|
|
NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs)
|
rs1586795216
|
|
NM_018972.4(GDAP1):c.178T>G (p.Leu60Val)
|
|
|
NM_018972.4(GDAP1):c.182G>A (p.Ser61Asn)
|
rs1808861763
|
|
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys)
|
rs1808862287
|
|
NM_018972.4(GDAP1):c.196C>T (p.Pro66Ser)
|
rs773136934
|
|
NM_018972.4(GDAP1):c.200G>T (p.Trp67Leu)
|
|
|
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile)
|
rs770714080
|
|
NM_018972.4(GDAP1):c.215A>G (p.Asn72Ser)
|
|
|
NM_018972.4(GDAP1):c.233C>T (p.Pro78Leu)
|
rs1586795332
|
|
NM_018972.4(GDAP1):c.235_239del (p.Val79fs)
|
rs1243845978
|
|
NM_018972.4(GDAP1):c.238C>T (p.Leu80Phe)
|
|
|
NM_018972.4(GDAP1):c.243C>T (p.Ile81=)
|
rs2131496261
|
|
NM_018972.4(GDAP1):c.244C>A (p.His82Asn)
|
|
|
NM_018972.4(GDAP1):c.245A>G (p.His82Arg)
|
|
|
NM_018972.4(GDAP1):c.246_256del (p.Gly83fs)
|
|
|
NM_018972.4(GDAP1):c.247G>A (p.Gly83Arg)
|
rs1586795373
|
|
NM_018972.4(GDAP1):c.250G>C (p.Glu84Gln)
|
|
|
NM_018972.4(GDAP1):c.250G>T (p.Glu84Ter)
|
rs1808867656
|
|
NM_018972.4(GDAP1):c.250del (p.Glu84fs)
|
rs1241632021
|
|
NM_018972.4(GDAP1):c.257T>A (p.Ile86Lys)
|
|
|
NM_018972.4(GDAP1):c.259A>G (p.Ile87Val)
|
rs2131496333
|
|
NM_018972.4(GDAP1):c.295C>T (p.Gln99Ter)
|
rs1586795452
|
|
NM_018972.4(GDAP1):c.296A>T (p.Gln99Leu)
|
rs1808871593
|
|
NM_018972.4(GDAP1):c.302T>A (p.Phe101Tyr)
|
rs1808871960
|
|
NM_018972.4(GDAP1):c.310+1G>A
|
rs1808872865
|
|
NM_018972.4(GDAP1):c.310+20C>G
|
|
|
NM_018972.4(GDAP1):c.310+4A>G
|
rs1808873168
|
|
NM_018972.4(GDAP1):c.310+5T>C
|
|
|
NM_018972.4(GDAP1):c.310+8del
|
rs1279865642
|
|
NM_018972.4(GDAP1):c.311-11G>A
|
|
|
NM_018972.4(GDAP1):c.311-1790_408del
|
|
|
NM_018972.4(GDAP1):c.311-6T>C
|
|
|
NM_018972.4(GDAP1):c.311-6T>G
|
|
|
NM_018972.4(GDAP1):c.346A>T (p.Met116Leu)
|
|
|
NM_018972.4(GDAP1):c.347T>C (p.Met116Thr)
|
rs281865060
|
|
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs)
|
rs1586803063
|
|
NM_018972.4(GDAP1):c.350A>G (p.Tyr117Cys)
|
rs1809288442
|
|
NM_018972.4(GDAP1):c.357A>G (p.Pro119=)
|
rs2131512519
|
|
NM_018972.4(GDAP1):c.359G>A (p.Arg120Gln)
|
rs1174933176
|
|
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu)
|
rs1174933176
|
|
NM_018972.4(GDAP1):c.360G>A (p.Arg120=)
|
|
|
NM_018972.4(GDAP1):c.361del (p.Val121fs)
|
rs2131512540
|
|
NM_018972.4(GDAP1):c.363ACA[1] (p.Gln122del)
|
|
|
NM_018972.4(GDAP1):c.364C>A (p.Gln122Lys)
|
rs1440200660
|
|
NM_018972.4(GDAP1):c.367del (p.His123fs)
|
|
|
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)
|
rs397515442
|
|
NM_018972.4(GDAP1):c.373C>G (p.Arg125Gly)
|
|
|
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys)
|
rs879254005
|
|
NM_018972.4(GDAP1):c.387C>T (p.Asp129=)
|
|
|
NM_018972.4(GDAP1):c.391T>C (p.Leu131=)
|
|
|
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe)
|
rs1586803187
|
|
NM_018972.4(GDAP1):c.395del (p.Pro132fs)
|
|
|
NM_018972.4(GDAP1):c.404C>G (p.Ala135Gly)
|
|
|
NM_018972.4(GDAP1):c.405C>T (p.Ala135=)
|
rs763427538
|
|
NM_018972.4(GDAP1):c.408T>C (p.Tyr136=)
|
rs766998162
|
|
NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr)
|
rs570990910
|
|
NM_018972.4(GDAP1):c.433_437del (p.Glu145fs)
|
rs1586803273
|
|
NM_018972.4(GDAP1):c.439del (p.Thr147fs)
|
rs1586803279
|
|
NM_018972.4(GDAP1):c.445G>C (p.Asp149His)
|
rs1443963090
|
|
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr)
|
rs1443963090
|
|
NM_018972.4(GDAP1):c.446A>C (p.Asp149Ala)
|
|
|
NM_018972.4(GDAP1):c.446A>G (p.Asp149Gly)
|
rs1586803296
|
|
NM_018972.4(GDAP1):c.449C>T (p.Ser150Phe)
|
|
|
NM_018972.4(GDAP1):c.450C>T (p.Ser150=)
|
rs752334269
|
|
NM_018972.4(GDAP1):c.456C>G (p.Ile152Met)
|
|
|
NM_018972.4(GDAP1):c.456C>T (p.Ile152=)
|
|
|
NM_018972.4(GDAP1):c.457C>T (p.Pro153Ser)
|
rs2131512957
|
|
NM_018972.4(GDAP1):c.458C>A (p.Pro153Gln)
|
|
|
NM_018972.4(GDAP1):c.466G>T (p.Ala156Ser)
|
rs1809302381
|
|
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly)
|
rs397515441
|
|
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro)
|
rs104894079
|
|
NM_018972.4(GDAP1):c.475A>G (p.Arg159Gly)
|
rs1809303639
|
|
NM_018972.4(GDAP1):c.477G>T (p.Arg159Ser)
|
|
|
NM_018972.4(GDAP1):c.480T>A (p.Ile160=)
|
rs1586803400
|
|
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)
|
rs104894076
|
|
NM_018972.4(GDAP1):c.484+19G>A
|
|
|
NM_018972.4(GDAP1):c.484+20A>G
|
|
|
NM_018972.4(GDAP1):c.484+3A>G
|
|
|
NM_018972.4(GDAP1):c.484+6T>C
|
rs2131513088
|
|
NM_018972.4(GDAP1):c.484+6_484+19dup
|
|
|
NM_018972.4(GDAP1):c.485-17A>C
|
|
|
NM_018972.4(GDAP1):c.485-2del
|
|
|
NM_018972.4(GDAP1):c.485-3C>T
|
rs761332159
|
|
NM_018972.4(GDAP1):c.491T>C (p.Ile164Thr)
|
|
|
NM_018972.4(GDAP1):c.492T>C (p.Ile164=)
|
rs1809382139
|
|
NM_018972.4(GDAP1):c.503_504del (p.Glu168fs)
|
rs1221804567
|
|
NM_018972.4(GDAP1):c.506C>T (p.Ser169Phe)
|
|
|
NM_018972.4(GDAP1):c.506_507delinsTG (p.Ser169Leu)
|
rs1809384050
|
|
NM_018972.4(GDAP1):c.531A>G (p.Glu177=)
|
rs1809386519
|
|
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser)
|
rs1586804849
|
|
NM_018972.4(GDAP1):c.536del (p.Pro179fs)
|
rs1169652308
|
|
NM_018972.4(GDAP1):c.543A>G (p.Leu181=)
|
rs779132911
|
|
NM_018972.4(GDAP1):c.549del (p.Ala184fs)
|
|
|
NM_018972.4(GDAP1):c.550dup (p.Ala184fs)
|
|
|
NM_018972.4(GDAP1):c.557T>C (p.Ile186Thr)
|
rs1809389310
|
|
NM_018972.4(GDAP1):c.558del (p.Ile186fs)
|
rs770658701
|
|
NM_018972.4(GDAP1):c.568A>G (p.Lys190Glu)
|
rs1809389662
|
|
NM_018972.4(GDAP1):c.571C>A (p.Arg191=)
|
rs1554547986
|
|
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter)
|
rs1554547986
|
|
NM_018972.4(GDAP1):c.577A>T (p.Lys193Ter)
|
rs1085307665
|
|
NM_018972.4(GDAP1):c.579+1G>A
|
rs864622501
|
|
NM_018972.4(GDAP1):c.579del (p.Lys193fs)
|
rs1060500979
|
|
NM_018972.4(GDAP1):c.580-15T>C
|
|
|
NM_018972.4(GDAP1):c.586C>G (p.Leu196Val)
|
rs1057524488
|
|
NM_018972.4(GDAP1):c.608A>G (p.Lys203Arg)
|
|
|
NM_018972.4(GDAP1):c.618G>A (p.Lys206=)
|
|
|
NM_018972.4(GDAP1):c.618G>T (p.Lys206Asn)
|
rs780629692
|
|
NM_018972.4(GDAP1):c.618dup (p.Lys207fs)
|
rs1809447471
|
|
NM_018972.4(GDAP1):c.633G>A (p.Glu211=)
|
rs2131519229
|
|
NM_018972.4(GDAP1):c.643G>T (p.Val215Phe)
|
|
|
NM_018972.4(GDAP1):c.652C>G (p.Gln218Glu)
|
rs121908113
|
|
NM_018972.4(GDAP1):c.653A>C (p.Gln218Pro)
|
rs556827873
|
|
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg)
|
rs556827873
|
|
NM_018972.4(GDAP1):c.656T>A (p.Val219Asp)
|
rs1586806206
|
|
NM_018972.4(GDAP1):c.656T>C (p.Val219Ala)
|
rs1586806206
|
|
NM_018972.4(GDAP1):c.666A>G (p.Glu222=)
|
|
|
NM_018972.4(GDAP1):c.671A>C (p.Gln224Pro)
|
rs1586806229
|
|
NM_018972.4(GDAP1):c.672A>G (p.Gln224=)
|
|
|
NM_018972.4(GDAP1):c.674GAA[1] (p.Arg226del)
|
rs1586806238
|
|
NM_018972.4(GDAP1):c.689C>G (p.Thr230Ser)
|
|
|
NM_018972.4(GDAP1):c.689C>T (p.Thr230Ile)
|
|
|
NM_018972.4(GDAP1):c.694+1G>A
|
rs1183978180
|
|
NM_018972.4(GDAP1):c.694+3A>G
|
|
|
NM_018972.4(GDAP1):c.694+8C>A
|
|
|
NM_018972.4(GDAP1):c.695-19T>C
|
|
|
NM_018972.4(GDAP1):c.695-1G>A
|
rs1809496317
|
|
NM_018972.4(GDAP1):c.695-20A>G
|
|
|
NM_018972.4(GDAP1):c.697G>A (p.Glu233Lys)
|
|
|
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter)
|
rs1554548334
|
|
NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)
|
|
|
NM_018972.4(GDAP1):c.716T>A (p.Leu239His)
|
|
|
NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser)
|
rs121908115
|
|
NM_018972.4(GDAP1):c.756T>C (p.Ala252=)
|
|
|
NM_018972.4(GDAP1):c.760dup (p.Thr254fs)
|
|
|
NM_018972.4(GDAP1):c.763T>C (p.Leu255=)
|
rs2131521525
|
|
NM_018972.4(GDAP1):c.765G>C (p.Leu255Phe)
|
rs1809501318
|
|
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg)
|
rs778557691
|
|
NM_018972.4(GDAP1):c.785G>A (p.Gly262Glu)
|
rs1563445155
|
|
NM_018972.4(GDAP1):c.786del (p.Phe263fs)
|
rs1060500978
|
|
NM_018972.4(GDAP1):c.793A>G (p.Arg265Gly)
|
|
|
NM_018972.4(GDAP1):c.805G>A (p.Gly269Arg)
|
rs2131521657
|
|
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly)
|
rs150989205
|
|
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln)
|
rs879254192
|
|
NM_018972.4(GDAP1):c.820C>G (p.Pro274Ala)
|
rs1563445213
|
|
NM_018972.4(GDAP1):c.827T>G (p.Leu276Trp)
|
|
|
NM_018972.4(GDAP1):c.834C>G (p.Thr278=)
|
rs2131521778
|
|
NM_018972.4(GDAP1):c.837T>C (p.Tyr279=)
|
rs1309093739
|
|
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser)
|
rs1417699318
|
|
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer)
|
rs1586807387
|
|
NM_018972.4(GDAP1):c.857G>C (p.Arg286Thr)
|
|
|
NM_018972.4(GDAP1):c.866T>A (p.Phe289Tyr)
|
|
|
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg)
|
rs1809508613
|
|
NM_018972.4(GDAP1):c.874G>C (p.Val292Leu)
|
rs767553697
|
|
NM_018972.4(GDAP1):c.880G>A (p.Gly294Arg)
|
rs976792279
|
|
NM_018972.4(GDAP1):c.891C>G (p.Asn297Lys)
|
rs1586807449
|
|
NM_018972.4(GDAP1):c.897A>G (p.Ile299Met)
|
|
|
NM_018972.4(GDAP1):c.904T>G (p.Ser302Ala)
|
rs1586807478
|
|
NM_018972.4(GDAP1):c.907G>A (p.Ala303Thr)
|
rs368055667
|
|
NM_018972.4(GDAP1):c.908C>T (p.Ala303Val)
|
rs1440025936
|
|
NM_018972.4(GDAP1):c.912G>T (p.Val304=)
|
|
|
NM_018972.4(GDAP1):c.913C>T (p.Leu305=)
|
|
|
NM_018972.4(GDAP1):c.921A>C (p.Thr307=)
|
|
|
NM_018972.4(GDAP1):c.921A>G (p.Thr307=)
|
|
|
NM_018972.4(GDAP1):c.927C>G (p.Phe309Leu)
|
rs1809513515
|
|
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln)
|
rs1323153568
|
|
NM_018972.4(GDAP1):c.930G>A (p.Arg310=)
|
|
|
NM_018972.4(GDAP1):c.931G>A (p.Val311Met)
|
rs1586807556
|
|
NM_018972.4(GDAP1):c.934G>A (p.Ala312Thr)
|
|
|
NM_018972.4(GDAP1):c.934del (p.Ala312fs)
|
|
|
NM_018972.4(GDAP1):c.937A>G (p.Lys313Glu)
|
rs1809514361
|
|
NM_018972.4(GDAP1):c.942A>G (p.Lys314=)
|
rs771751303
|
|
NM_018972.4(GDAP1):c.945G>C (p.Arg315Ser)
|
|
|
NM_018972.4(GDAP1):c.947C>A (p.Ala316Asp)
|
|
|
NM_018972.4(GDAP1):c.951A>C (p.Pro317=)
|
|
|
NM_018972.4(GDAP1):c.966G>A (p.Thr322=)
|
|
|
NM_018972.4(GDAP1):c.966G>C (p.Thr322=)
|
|
|
NM_018972.4(GDAP1):c.970C>T (p.Leu324Phe)
|
rs1176626666
|
|
NM_018972.4(GDAP1):c.975G>A (p.Val325=)
|
|
|
NM_018972.4(GDAP1):c.975G>T (p.Val325=)
|
|
|
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp)
|
rs1416176817
|
|
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp)
|
rs397515432
|
|