NM_001005361.3(DNM2):c.*185A>C
|
rs570774479
|
0.00135
|
NM_001005361.3(DNM2):c.*88C>G
|
rs886054143
|
0.00038
|
NM_001005361.3(DNM2):c.*82C>T
|
rs569502521
|
0.00036
|
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320
|
0.00024
|
NM_001005361.3(DNM2):c.*79G>A
|
rs550692861
|
0.00020
|
NM_001005361.3(DNM2):c.*391C>T
|
rs886054147
|
0.00009
|
NM_001005361.3(DNM2):c.2543+6G>T
|
rs531145240
|
0.00009
|
NM_001005361.3(DNM2):c.633C>T (p.Asp211=)
|
rs200191870
|
0.00009
|
NM_001005361.3(DNM2):c.234A>G (p.Thr78=)
|
rs747545894
|
0.00007
|
NM_001005361.3(DNM2):c.*373G>A
|
rs906210543
|
0.00006
|
NM_001005361.3(DNM2):c.2074C>T (p.His692Tyr)
|
rs752473055
|
0.00006
|
NM_001005361.3(DNM2):c.535A>G (p.Met179Val)
|
rs748887276
|
0.00006
|
NM_001005361.3(DNM2):c.601A>G (p.Ile201Val)
|
rs969140793
|
0.00006
|
NM_001005361.3(DNM2):c.1969C>T (p.Arg657Cys)
|
rs772920450
|
0.00005
|
NM_001005361.3(DNM2):c.2305C>T (p.Arg769Cys)
|
rs374864354
|
0.00005
|
NM_001005361.3(DNM2):c.868C>T (p.Arg290Trp)
|
rs587778235
|
0.00005
|
NM_001005361.3(DNM2):c.1373G>A (p.Arg458Gln)
|
rs375653221
|
0.00004
|
NM_001005361.3(DNM2):c.1456A>G (p.Ile486Val)
|
rs758246840
|
0.00004
|
NM_001005361.3(DNM2):c.1990G>A (p.Val664Met)
|
rs757366208
|
0.00004
|
NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met)
|
rs202136528
|
0.00004
|
NM_001005361.3(DNM2):c.2276G>A (p.Ser759Asn)
|
rs879254300
|
0.00004
|
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=)
|
rs200968756
|
0.00004
|
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln)
|
rs200002469
|
0.00004
|
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln)
|
rs117398902
|
0.00004
|
NM_001005361.3(DNM2):c.1358G>A (p.Arg453Gln)
|
rs140043676
|
0.00003
|
NM_001005361.3(DNM2):c.1372C>G (p.Arg458Gly)
|
rs745748213
|
0.00003
|
NM_001005361.3(DNM2):c.1378G>A (p.Val460Ile)
|
rs143992936
|
0.00003
|
NM_001005361.3(DNM2):c.1423-9C>G
|
rs371006369
|
0.00003
|
NM_001005361.3(DNM2):c.162-9C>A
|
rs200736669
|
0.00003
|
NM_001005361.3(DNM2):c.1858T>C (p.Phe620Leu)
|
rs1274228418
|
0.00003
|
NM_001005361.3(DNM2):c.2452G>A (p.Val818Met)
|
rs755608537
|
0.00003
|
NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser)
|
rs886054141
|
0.00003
|
NM_001005361.3(DNM2):c.677C>T (p.Pro226Leu)
|
rs779734638
|
0.00003
|
NM_001005361.3(DNM2):c.700G>C (p.Val234Leu)
|
rs377159042
|
0.00003
|
NM_001005361.3(DNM2):c.890G>A (p.Arg297His)
|
rs763894364
|
0.00003
|
NM_001005361.3(DNM2):c.1196+710G>A
|
rs140208362
|
0.00002
|
NM_001005361.3(DNM2):c.1641C>A (p.Ala547=)
|
rs538253489
|
0.00002
|
NM_001005361.3(DNM2):c.1786G>A (p.Val596Ile)
|
rs763762422
|
0.00002
|
NM_001005361.3(DNM2):c.1912G>A (p.Ala638Thr)
|
rs587778236
|
0.00002
|
NM_001005361.3(DNM2):c.2195C>T (p.Ala732Val)
|
rs375577182
|
0.00002
|
NM_001005361.3(DNM2):c.2291+5G>A
|
rs747057769
|
0.00002
|
NM_001005361.3(DNM2):c.2309G>A (p.Arg770Gln)
|
rs768817257
|
0.00002
|
NM_001005361.3(DNM2):c.2327A>C (p.His776Pro)
|
rs1277774683
|
0.00002
|
NM_001005361.3(DNM2):c.2328C>G (p.His776Gln)
|
rs766387630
|
0.00002
|
NM_001005361.3(DNM2):c.414G>A (p.Pro138=)
|
rs1222869455
|
0.00002
|
NM_001005361.3(DNM2):c.676C>T (p.Pro226Ser)
|
rs757892950
|
0.00002
|
NM_001005361.3(DNM2):c.797G>A (p.Arg266Gln)
|
rs754507545
|
0.00002
|
NM_001005361.3(DNM2):c.812G>A (p.Arg271His)
|
rs781546006
|
0.00002
|
NM_001005361.3(DNM2):c.889C>T (p.Arg297Cys)
|
rs760254039
|
0.00002
|
NM_001005361.3(DNM2):c.919C>G (p.Leu307Val)
|
rs755458594
|
0.00002
|
NM_001005361.3(DNM2):c.*106T>C
|
rs886054144
|
0.00001
|
NM_001005361.3(DNM2):c.*214C>T
|
rs1271831719
|
0.00001
|
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)
|
rs121909090
|
0.00001
|
NM_001005361.3(DNM2):c.1128+5T>G
|
rs2071835923
|
0.00001
|
NM_001005361.3(DNM2):c.1196+626G>A
|
rs773756665
|
0.00001
|
NM_001005361.3(DNM2):c.1196+698C>A
|
rs879253980
|
0.00001
|
NM_001005361.3(DNM2):c.1196+735A>G
|
rs778187114
|
0.00001
|
NM_001005361.3(DNM2):c.1196+747A>G
|
rs1280243348
|
0.00001
|
NM_001005361.3(DNM2):c.1351C>T (p.Arg451Trp)
|
rs372593558
|
0.00001
|
NM_001005361.3(DNM2):c.1352G>A (p.Arg451Gln)
|
rs749154067
|
0.00001
|
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val)
|
rs766613900
|
0.00001
|
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)
|
rs759366882
|
0.00001
|
NM_001005361.3(DNM2):c.1541A>G (p.Asn514Ser)
|
rs141132980
|
0.00001
|
NM_001005361.3(DNM2):c.1586A>G (p.Asn529Ser)
|
rs1406718069
|
0.00001
|
NM_001005361.3(DNM2):c.1676A>G (p.Lys559Arg)
|
rs886043756
|
0.00001
|
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met)
|
rs372876881
|
0.00001
|
NM_001005361.3(DNM2):c.1782-6C>T
|
rs963604980
|
0.00001
|
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=)
|
rs746025991
|
0.00001
|
NM_001005361.3(DNM2):c.1973A>G (p.Asn658Ser)
|
rs753175954
|
0.00001
|
NM_001005361.3(DNM2):c.2017G>A (p.Asp673Asn)
|
rs1423993325
|
0.00001
|
NM_001005361.3(DNM2):c.2035A>G (p.Ile679Val)
|
rs1381561772
|
0.00001
|
NM_001005361.3(DNM2):c.2105C>T (p.Ser702Leu)
|
rs745382488
|
0.00001
|
NM_001005361.3(DNM2):c.2135C>T (p.Ser712Leu)
|
rs763393555
|
0.00001
|
NM_001005361.3(DNM2):c.2152C>T (p.Arg718Trp)
|
rs763927287
|
0.00001
|
NM_001005361.3(DNM2):c.2153G>A (p.Arg718Gln)
|
rs753677038
|
0.00001
|
NM_001005361.3(DNM2):c.2158G>A (p.Asp720Asn)
|
rs1253996634
|
0.00001
|
NM_001005361.3(DNM2):c.2173A>G (p.Met725Val)
|
rs757876109
|
0.00001
|
NM_001005361.3(DNM2):c.2209G>A (p.Gly737Ser)
|
rs774897265
|
0.00001
|
NM_001005361.3(DNM2):c.2264C>T (p.Thr755Ile)
|
rs754691182
|
0.00001
|
NM_001005361.3(DNM2):c.2269C>T (p.Leu757Phe)
|
rs375820696
|
0.00001
|
NM_001005361.3(DNM2):c.2292C>T (p.Ser764=)
|
rs779394836
|
0.00001
|
NM_001005361.3(DNM2):c.2326C>T (p.His776Tyr)
|
rs762624510
|
0.00001
|
NM_001005361.3(DNM2):c.2330C>T (p.Pro777Leu)
|
rs1282571887
|
0.00001
|
NM_001005361.3(DNM2):c.2363C>T (p.Thr788Ile)
|
rs763624831
|
0.00001
|
NM_001005361.3(DNM2):c.2371C>T (p.Pro791Ser)
|
rs758644162
|
0.00001
|
NM_001005361.3(DNM2):c.2374C>A (p.Pro792Thr)
|
rs1443504332
|
0.00001
|
NM_001005361.3(DNM2):c.2411T>C (p.Phe804Ser)
|
rs1237677745
|
0.00001
|
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)
|
rs779081943
|
0.00001
|
NM_001005361.3(DNM2):c.2417C>T (p.Ala806Val)
|
rs138527500
|
0.00001
|
NM_001005361.3(DNM2):c.2434C>T (p.Arg812Trp)
|
rs2073292486
|
0.00001
|
NM_001005361.3(DNM2):c.2497T>C (p.Ser833Pro)
|
rs1253864930
|
0.00001
|
NM_001005361.3(DNM2):c.2584C>T (p.Arg862Cys)
|
rs774180125
|
0.00001
|
NM_001005361.3(DNM2):c.2593G>A (p.Glu865Lys)
|
rs746818628
|
0.00001
|
NM_001005361.3(DNM2):c.266A>G (p.Lys89Arg)
|
rs1340636700
|
0.00001
|
NM_001005361.3(DNM2):c.292C>T (p.Arg98Trp)
|
rs200408053
|
0.00001
|
NM_001005361.3(DNM2):c.320G>A (p.Arg107Lys)
|
rs761564812
|
0.00001
|
NM_001005361.3(DNM2):c.335A>G (p.Asn112Ser)
|
rs1220312465
|
0.00001
|
NM_001005361.3(DNM2):c.439G>A (p.Asp147Asn)
|
rs370086632
|
0.00001
|
NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp)
|
rs1366377441
|
0.00001
|
NM_001005361.3(DNM2):c.636G>T (p.Glu212Asp)
|
rs542515194
|
0.00001
|
NM_001005361.3(DNM2):c.688G>C (p.Gly230Arg)
|
rs1245632083
|
0.00001
|
NM_001005361.3(DNM2):c.689-3C>T
|
rs373330742
|
0.00001
|
NM_001005361.3(DNM2):c.800A>G (p.His267Arg)
|
rs1412618988
|
0.00001
|
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)
|
rs1217925152
|
0.00001
|
NM_001005361.3(DNM2):c.811C>T (p.Arg271Cys)
|
rs138128705
|
0.00001
|
NM_001005361.3(DNM2):c.821C>T (p.Thr274Met)
|
rs746387165
|
0.00001
|
NM_001005361.3(DNM2):c.881C>T (p.Pro294Leu)
|
rs774185418
|
0.00001
|
NM_001005361.3(DNM2):c.934G>A (p.Glu312Lys)
|
rs370636702
|
0.00001
|
NM_001005361.3(DNM2):c.944A>G (p.Lys315Arg)
|
rs148105340
|
0.00001
|
NM_001005361.3(DNM2):c.952C>T (p.Arg318Trp)
|
rs778020908
|
0.00001
|
NC_000019.10:g.(?_10718233)_(10759821_?)dup
|
|
|
NC_000019.10:g.(?_10718233)_(10786716_?)dup
|
|
|
NC_000019.10:g.(?_10819960)_(10823919_?)dup
|
|
|
NC_000019.10:g.(?_10819970)_(10823909_?)dup
|
|
|
NC_000019.10:g.(?_10819970)_(10831057_?)dup
|
|
|
NC_000019.9:g.(?_10828909)_(10829089_?)dup
|
|
|
NC_000019.9:g.(?_10828919)_(10829099_?)dup
|
|
|
NC_000019.9:g.(?_10870394)_(10870507_?)del
|
|
|
NC_000019.9:g.(?_10939692)_(10941723_?)dup
|
|
|
NC_000019.9:g.(?_10940783)_(10941723_?)dup
|
|
|
NM_001005361.3(DNM2):c.*166G>A
|
rs886054145
|
|
NM_001005361.3(DNM2):c.*379C>T
|
rs953057550
|
|
NM_001005361.3(DNM2):c.*550G>A
|
rs886054148
|
|
NM_001005361.3(DNM2):c.*711T>C
|
rs886054149
|
|
NM_001005361.3(DNM2):c.*716C>T
|
rs2073353055
|
|
NM_001005361.3(DNM2):c.*751T>A
|
rs2073354083
|
|
NM_001005361.3(DNM2):c.1010G>T (p.Gly337Val)
|
rs767838513
|
|
NM_001005361.3(DNM2):c.1012G>A (p.Val338Met)
|
rs753224039
|
|
NM_001005361.3(DNM2):c.1016A>G (p.Asp339Gly)
|
rs1568304280
|
|
NM_001005361.3(DNM2):c.1033G>A (p.Glu345Lys)
|
|
|
NM_001005361.3(DNM2):c.1040C>T (p.Ser347Leu)
|
rs2071834284
|
|
NM_001005361.3(DNM2):c.1048C>G (p.Gln350Glu)
|
rs2071834543
|
|
NM_001005361.3(DNM2):c.1051G>A (p.Val351Met)
|
rs876661176
|
|
NM_001005361.3(DNM2):c.1058C>A (p.Thr353Asn)
|
|
|
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)
|
rs267606772
|
|
NM_001005361.3(DNM2):c.1078G>A (p.Ala360Thr)
|
|
|
NM_001005361.3(DNM2):c.1088A>G (p.Asn363Ser)
|
rs2146014211
|
|
NM_001005361.3(DNM2):c.1090C>G (p.Arg364Gly)
|
rs1568304333
|
|
NM_001005361.3(DNM2):c.1091G>A (p.Arg364His)
|
rs2071835414
|
|
NM_001005361.3(DNM2):c.1091G>T (p.Arg364Leu)
|
|
|
NM_001005361.3(DNM2):c.1093A>G (p.Ile365Val)
|
|
|
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)
|
rs121909092
|
|
NM_001005361.3(DNM2):c.1102G>C (p.Glu368Gln)
|
|
|
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)
|
rs121909089
|
|
NM_001005361.3(DNM2):c.1124T>C (p.Val375Ala)
|
rs587783594
|
|
NM_001005361.3(DNM2):c.1124T>G (p.Val375Gly)
|
|
|
NM_001005361.3(DNM2):c.1134G>C (p.Glu378Asp)
|
rs1223342362
|
|
NM_001005361.3(DNM2):c.1135T>G (p.Phe379Val)
|
rs397514735
|
|
NM_001005361.3(DNM2):c.1141G>A (p.Glu381Lys)
|
rs2071896749
|
|
NM_001005361.3(DNM2):c.1147G>T (p.Asp383Tyr)
|
rs1568305190
|
|
NM_001005361.3(DNM2):c.1156C>T (p.Arg386Trp)
|
|
|
NM_001005361.3(DNM2):c.1161G>T (p.Glu387Asp)
|
rs2071897159
|
|
NM_001005361.3(DNM2):c.1178A>C (p.Lys393Thr)
|
rs2071897365
|
|
NM_001005361.3(DNM2):c.1187A>G (p.His396Arg)
|
|
|
NM_001005361.3(DNM2):c.1196+4A>G
|
|
|
NM_001005361.3(DNM2):c.1196+613C>G
|
|
|
NM_001005361.3(DNM2):c.1196+619C>T
|
rs748695148
|
|
NM_001005361.3(DNM2):c.1196+660T>C
|
rs2146025971
|
|
NM_001005361.3(DNM2):c.1196+666A>G
|
|
|
NM_001005361.3(DNM2):c.1196+680A>G
|
rs2071923540
|
|
NM_001005361.3(DNM2):c.1196+681A>C
|
rs931176769
|
|
NM_001005361.3(DNM2):c.1196+681A>G
|
rs931176769
|
|
NM_001005361.3(DNM2):c.1196+686A>G
|
|
|
NM_001005361.3(DNM2):c.1196+701A>T
|
|
|
NM_001005361.3(DNM2):c.1196+704T>C
|
rs1409309807
|
|
NM_001005361.3(DNM2):c.1196+707G>C
|
rs2071924630
|
|
NM_001005361.3(DNM2):c.1196+708T>C
|
|
|
NM_001005361.3(DNM2):c.1196+715G>A
|
rs1338938129
|
|
NM_001005361.3(DNM2):c.1196+723A>G
|
|
|
NM_001005361.3(DNM2):c.1196+729T>G
|
rs1555710681
|
|
NM_001005361.3(DNM2):c.1196+740G>T
|
rs2146026442
|
|
NM_001005361.3(DNM2):c.1196+745G>T
|
|
|
NM_001005361.3(DNM2):c.1196+761G>A
|
rs1431565635
|
|
NM_001005361.3(DNM2):c.1336-3C>A
|
rs2146038756
|
|
NM_001005361.3(DNM2):c.1336-5C>G
|
|
|
NM_001005361.3(DNM2):c.1343C>A (p.Ser448Tyr)
|
rs2072020474
|
|
NM_001005361.3(DNM2):c.1352G>T (p.Arg451Leu)
|
rs749154067
|
|
NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val)
|
rs770599060
|
|
NM_001005361.3(DNM2):c.1356G>T (p.Leu452Phe)
|
|
|
NM_001005361.3(DNM2):c.1370A>G (p.Glu457Gly)
|
rs1555711301
|
|
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
|
rs745748213
|
|
NM_001005361.3(DNM2):c.1385C>T (p.Thr462Ile)
|
|
|
NM_001005361.3(DNM2):c.1388A>G (p.Tyr463Cys)
|
|
|
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091
|
|
NM_001005361.3(DNM2):c.1400G>T (p.Arg467Leu)
|
|
|
NM_001005361.3(DNM2):c.1422+6G>A
|
rs2146039132
|
|
NM_001005361.3(DNM2):c.1423-1G>T
|
rs2072180672
|
|
NM_001005361.3(DNM2):c.1426C>A (p.Leu476Ile)
|
rs1568309121
|
|
NM_001005361.3(DNM2):c.1438G>A (p.Asp480Asn)
|
rs764027808
|
|
NM_001005361.3(DNM2):c.1438G>C (p.Asp480His)
|
|
|
NM_001005361.3(DNM2):c.1442T>C (p.Ile481Thr)
|
|
|
NM_001005361.3(DNM2):c.1451C>G (p.Ser484Cys)
|
rs2146061357
|
|
NM_001005361.3(DNM2):c.1463C>T (p.Thr488Met)
|
rs746903992
|
|
NM_001005361.3(DNM2):c.1480A>G (p.Ile494Val)
|
rs2146061452
|
|
NM_001005361.3(DNM2):c.1483G>A (p.Gly495Arg)
|
|
|
NM_001005361.3(DNM2):c.1493+5G>A
|
rs2072182574
|
|
NM_001005361.3(DNM2):c.1493A>C (p.Asn498Thr)
|
|
|
NM_001005361.3(DNM2):c.1493A>G (p.Asn498Ser)
|
rs886054140
|
|
NM_001005361.3(DNM2):c.1514del (p.Gln505fs)
|
rs2146080349
|
|
NM_001005361.3(DNM2):c.1521C>A (p.Asn507Lys)
|
|
|
NM_001005361.3(DNM2):c.1523A>G (p.Lys508Arg)
|
|
|
NM_001005361.3(DNM2):c.1523AGA[1] (p.Lys509del)
|
rs752875857
|
|
NM_001005361.3(DNM2):c.1524G>C (p.Lys508Asn)
|
|
|
NM_001005361.3(DNM2):c.1526A>G (p.Lys509Arg)
|
rs1555712608
|
|
NM_001005361.3(DNM2):c.1552A>G (p.Ile518Val)
|
rs753402698
|
|
NM_001005361.3(DNM2):c.1558G>C (p.Val520Leu)
|
rs2072577212
|
|
NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys)
|
rs2072577342
|
|
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)
|
rs587783595
|
|
NM_001005361.3(DNM2):c.1567A>G (p.Arg523Gly)
|
rs587783596
|
|
NM_001005361.3(DNM2):c.1570G>C (p.Gly524Arg)
|
|
|
NM_001005361.3(DNM2):c.1586ACA[1] (p.Asn530del)
|
rs1342132509
|
|
NM_001005361.3(DNM2):c.1594A>G (p.Ser532Gly)
|
rs368752035
|
|
NM_001005361.3(DNM2):c.1601T>G (p.Met534Arg)
|
|
|
NM_001005361.3(DNM2):c.1606G>A (p.Gly536Ser)
|
rs2072578382
|
|
NM_001005361.3(DNM2):c.1609G>T (p.Gly537Cys)
|
rs121909093
|
|
NM_001005361.3(DNM2):c.1616A>T (p.Lys539Met)
|
rs1568314284
|
|
NM_001005361.3(DNM2):c.1618G>A (p.Glu540Lys)
|
|
|
NM_001005361.3(DNM2):c.162G>A (p.Arg54=)
|
|
|
NM_001005361.3(DNM2):c.162G>C (p.Arg54=)
|
rs762111033
|
|
NM_001005361.3(DNM2):c.1663G>A (p.Asp555Asn)
|
|
|
NM_001005361.3(DNM2):c.1664_1671+1del
|
rs1568314339
|
|
NM_001005361.3(DNM2):c.1671+3G>A
|
|
|
NM_001005361.3(DNM2):c.1671+3G>C
|
rs942932745
|
|
NM_001005361.3(DNM2):c.1675_1677del (p.Lys559del)
|
rs1599620398
|
|
NM_001005361.3(DNM2):c.1678G>A (p.Glu560Lys)
|
rs879254086
|
|
NM_001005361.3(DNM2):c.1681AAG[1] (p.Lys562del)
|
rs1599620408
|
|
NM_001005361.3(DNM2):c.1684A>G (p.Lys562Glu)
|
rs121909088
|
|
NM_001005361.3(DNM2):c.1696C>A (p.Pro566Thr)
|
|
|
NM_001005361.3(DNM2):c.1697C>T (p.Pro566Leu)
|
|
|
NM_001005361.3(DNM2):c.1705A>C (p.Asn569His)
|
|
|
NM_001005361.3(DNM2):c.1708C>T (p.Leu570Phe)
|
rs2072921679
|
|
NM_001005361.3(DNM2):c.1709T>A (p.Leu570His)
|
rs121909094
|
|
NM_001005361.3(DNM2):c.170_192del (p.Leu57fs)
|
rs2145855560
|
|
NM_001005361.3(DNM2):c.1712A>G (p.Lys571Arg)
|
|
|
NM_001005361.3(DNM2):c.1713G>T (p.Lys571Asn)
|
|
|
NM_001005361.3(DNM2):c.1717C>T (p.Arg573Cys)
|
|
|
NM_001005361.3(DNM2):c.1718G>A (p.Arg573His)
|
rs1555715216
|
|
NM_001005361.3(DNM2):c.1721A>C (p.Asp574Ala)
|
rs1300578677
|
|
NM_001005361.3(DNM2):c.1723G>A (p.Val575Met)
|
|
|
NM_001005361.3(DNM2):c.1726G>A (p.Glu576Lys)
|
|
|
NM_001005361.3(DNM2):c.1731G>C (p.Lys577Asn)
|
rs35365412
|
|
NM_001005361.3(DNM2):c.1732G>A (p.Gly578Ser)
|
|
|
NM_001005361.3(DNM2):c.1735_1737dup (p.Phe579dup)
|
rs2072922521
|
|
NM_001005361.3(DNM2):c.1739T>C (p.Met580Thr)
|
rs1269225724
|
|
NM_001005361.3(DNM2):c.1747A>G (p.Lys583Glu)
|
rs1568318798
|
|
NM_001005361.3(DNM2):c.1753G>A (p.Val585Ile)
|
rs762777422
|
|
NM_001005361.3(DNM2):c.175C>T (p.Arg59Cys)
|
|
|
NM_001005361.3(DNM2):c.1781+6G>C
|
|
|
NM_001005361.3(DNM2):c.1781+6G>T
|
rs1568318838
|
|
NM_001005361.3(DNM2):c.1801C>T (p.Arg601Trp)
|
|
|
NM_001005361.3(DNM2):c.1806G>C (p.Gln602His)
|
rs2073058875
|
|
NM_001005361.3(DNM2):c.1809C>G (p.Ile603Met)
|
rs780409124
|
|
NM_001005361.3(DNM2):c.1816G>T (p.Ala606Ser)
|
rs2146181196
|
|
NM_001005361.3(DNM2):c.1840G>A (p.Asp614Asn)
|
|
|
NM_001005361.3(DNM2):c.1847G>A (p.Trp616Ter)
|
|
|
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr)
|
rs773598203
|
|
NM_001005361.3(DNM2):c.1852G>T (p.Ala618Ser)
|
rs773598203
|
|
NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp)
|
rs1555715869
|
|
NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp)
|
rs121909095
|
|
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)
|
rs121909095
|
|
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro)
|
rs587783597
|
|
NM_001005361.3(DNM2):c.1871G>T (p.Gly624Val)
|
|
|
NM_001005361.3(DNM2):c.1873_1875del (p.Val625del)
|
|
|
NM_001005361.3(DNM2):c.187A>G (p.Ile63Val)
|
|
|
NM_001005361.3(DNM2):c.1880C>A (p.Pro627His)
|
|
|
NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg)
|
rs587783598
|
|
NM_001005361.3(DNM2):c.1882G>A (p.Glu628Lys)
|
rs775361247
|
|
NM_001005361.3(DNM2):c.1885_1893+8del
|
|
|
NM_001005361.3(DNM2):c.1893+1G>A
|
rs2073061878
|
|
NM_001005361.3(DNM2):c.1903G>A (p.Glu635Lys)
|
rs761198315
|
|
NM_001005361.3(DNM2):c.1906G>A (p.Asp636Asn)
|
|
|
NM_001005361.3(DNM2):c.1906G>C (p.Asp636His)
|
|
|
NM_001005361.3(DNM2):c.1938C>A (p.Asp646Glu)
|
|
|
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)
|
rs2073098775
|
|
NM_001005361.3(DNM2):c.1952G>A (p.Arg651Gln)
|
rs1568321851
|
|
NM_001005361.3(DNM2):c.1966A>T (p.Ile656Phe)
|
rs776410455
|
|
NM_001005361.3(DNM2):c.1967T>C (p.Ile656Thr)
|
|
|
NM_001005361.3(DNM2):c.196C>T (p.Arg66Trp)
|
|
|
NM_001005361.3(DNM2):c.1970G>A (p.Arg657His)
|
rs2146188021
|
|
NM_001005361.3(DNM2):c.197G>A (p.Arg66Gln)
|
rs1568283807
|
|
NM_001005361.3(DNM2):c.1998C>G (p.Ile666Met)
|
rs2073100886
|
|
NM_001005361.3(DNM2):c.200G>A (p.Arg67Gln)
|
rs752080566
|
|
NM_001005361.3(DNM2):c.2011A>G (p.Ile671Val)
|
rs1568321953
|
|
NM_001005361.3(DNM2):c.2014C>T (p.Arg672Cys)
|
|
|
NM_001005361.3(DNM2):c.2023A>G (p.Met675Val)
|
rs1555716140
|
|
NM_001005361.3(DNM2):c.2041C>A (p.His681Asn)
|
rs1437296623
|
|
NM_001005361.3(DNM2):c.2047A>G (p.Met683Val)
|
|
|
NM_001005361.3(DNM2):c.2057A>G (p.Asn686Ser)
|
rs2073102227
|
|
NM_001005361.3(DNM2):c.2058+3G>A
|
rs747966753
|
|
NM_001005361.3(DNM2):c.2058T>G (p.Asn686Lys)
|
rs1368089327
|
|
NM_001005361.3(DNM2):c.205C>T (p.Leu69Phe)
|
rs2145855703
|
|
NM_001005361.3(DNM2):c.2060C>T (p.Thr687Met)
|
|
|
NM_001005361.3(DNM2):c.208A>G (p.Ile70Val)
|
|
|
NM_001005361.3(DNM2):c.2100CTC[1] (p.Ser702del)
|
rs1324559612
|
|
NM_001005361.3(DNM2):c.2102C>T (p.Ser701Phe)
|
|
|
NM_001005361.3(DNM2):c.2110G>A (p.Asp704Asn)
|
|
|
NM_001005361.3(DNM2):c.2116A>T (p.Ser706Cys)
|
rs2146205490
|
|
NM_001005361.3(DNM2):c.2144A>G (p.Gln715Arg)
|
rs374041367
|
|
NM_001005361.3(DNM2):c.2144A>T (p.Gln715Leu)
|
|
|
NM_001005361.3(DNM2):c.2146G>C (p.Ala716Pro)
|
|
|
NM_001005361.3(DNM2):c.2147C>T (p.Ala716Val)
|
|
|
NM_001005361.3(DNM2):c.2156G>A (p.Arg719Gln)
|
|
|
NM_001005361.3(DNM2):c.2159del (p.Asp720fs)
|
|
|
NM_001005361.3(DNM2):c.2161G>A (p.Asp721Asn)
|
rs1012446714
|
|
NM_001005361.3(DNM2):c.2168T>A (p.Leu723Gln)
|
|
|
NM_001005361.3(DNM2):c.2170C>T (p.Arg724Cys)
|
|
|
NM_001005361.3(DNM2):c.2171G>A (p.Arg724His)
|
rs1160341992
|
|
NM_001005361.3(DNM2):c.2174T>C (p.Met725Thr)
|
|
|
NM_001005361.3(DNM2):c.2180A>G (p.His727Arg)
|
|
|
NM_001005361.3(DNM2):c.2185C>G (p.Leu729Val)
|
|
|
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr)
|
rs1360529572
|
|
NM_001005361.3(DNM2):c.2197C>T (p.Leu733Phe)
|
rs1568324227
|
|
NM_001005361.3(DNM2):c.2215A>G (p.Ile739Val)
|
rs2073249809
|
|
NM_001005361.3(DNM2):c.2233T>A (p.Ser745Thr)
|
rs1568324267
|
|
NM_001005361.3(DNM2):c.2245C>T (p.Pro749Ser)
|
rs773884005
|
|
NM_001005361.3(DNM2):c.2246C>A (p.Pro749His)
|
rs765111629
|
|
NM_001005361.3(DNM2):c.2248C>A (p.Pro750Thr)
|
rs1173091380
|
|
NM_001005361.3(DNM2):c.2249C>T (p.Pro750Leu)
|
rs375350902
|
|
NM_001005361.3(DNM2):c.2252C>A (p.Pro751His)
|
|
|
NM_001005361.3(DNM2):c.2257G>T (p.Asp753Tyr)
|
rs368325934
|
|
NM_001005361.3(DNM2):c.2264C>A (p.Thr755Asn)
|
rs754691182
|
|
NM_001005361.3(DNM2):c.2274G>T (p.Gln758His)
|
rs2146206095
|
|
NM_001005361.3(DNM2):c.2278G>A (p.Ala760Thr)
|
rs779315825
|
|
NM_001005361.3(DNM2):c.2286C>A (p.Ser762Arg)
|
rs1568324385
|
|
NM_001005361.3(DNM2):c.2292-3C>T
|
|
|
NM_001005361.3(DNM2):c.2292-7C>G
|
rs2073285852
|
|
NM_001005361.3(DNM2):c.2292-8C>A
|
rs757620658
|
|
NM_001005361.3(DNM2):c.2297C>T (p.Thr766Ile)
|
rs2073286326
|
|
NM_001005361.3(DNM2):c.2306G>A (p.Arg769His)
|
|
|
NM_001005361.3(DNM2):c.2308C>T (p.Arg770Ter)
|
rs1599641077
|
|
NM_001005361.3(DNM2):c.2311C>A (p.Pro771Thr)
|
rs1862203120
|
|
NM_001005361.3(DNM2):c.231A>C (p.Lys77Asn)
|
rs2145855757
|
|
NM_001005361.3(DNM2):c.2323A>C (p.Ile775Leu)
|
rs773124483
|
|
NM_001005361.3(DNM2):c.2328C>A (p.His776Gln)
|
rs766387630
|
|
NM_001005361.3(DNM2):c.2332C>A (p.Pro778Thr)
|
rs774220956
|
|
NM_001005361.3(DNM2):c.2335G>A (p.Gly779Ser)
|
|
|
NM_001005361.3(DNM2):c.2338C>T (p.Arg780Trp)
|
rs1221582515
|
|
NM_001005361.3(DNM2):c.235+4A>G
|
|
|
NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys)
|
rs1555717200
|
|
NM_001005361.3(DNM2):c.2357G>T (p.Gly786Val)
|
|
|
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=)
|
rs2073288383
|
|
NM_001005361.3(DNM2):c.2359C>G (p.Pro787Ala)
|
rs752357434
|
|
NM_001005361.3(DNM2):c.2372C>A (p.Pro791His)
|
rs780738840
|
|
NM_001005361.3(DNM2):c.2372C>T (p.Pro791Leu)
|
rs780738840
|
|
NM_001005361.3(DNM2):c.2377_2378del (p.Leu793fs)
|
|
|
NM_001005361.3(DNM2):c.2377del (p.Pro792_Leu793insTer)
|
rs764391392
|
|
NM_001005361.3(DNM2):c.2378T>C (p.Leu793Pro)
|
|
|
NM_001005361.3(DNM2):c.2378del (p.Leu793fs)
|
rs2073289875
|
|
NM_001005361.3(DNM2):c.2383C>G (p.Pro795Ala)
|
|
|
NM_001005361.3(DNM2):c.2389C>A (p.Pro797Thr)
|
|
|
NM_001005361.3(DNM2):c.2390C>T (p.Pro797Leu)
|
|
|
NM_001005361.3(DNM2):c.2395G>A (p.Gly799Arg)
|
rs2073290642
|
|
NM_001005361.3(DNM2):c.2399C>T (p.Ala800Val)
|
|
|
NM_001005361.3(DNM2):c.2411_2413del (p.Phe804del)
|
rs752014734
|
|
NM_001005361.3(DNM2):c.2420C>T (p.Pro807Leu)
|
|
|
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe)
|
rs2073292307
|
|
NM_001005361.3(DNM2):c.2435G>A (p.Arg812Gln)
|
rs1285468865
|
|
NM_001005361.3(DNM2):c.2437C>T (p.Pro813Ser)
|
rs2073292666
|
|
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu)
|
rs1382688319
|
|
NM_001005361.3(DNM2):c.2443C>T (p.Pro815Ser)
|
rs1438459794
|
|
NM_001005361.3(DNM2):c.244G>A (p.Glu82Lys)
|
|
|
NM_001005361.3(DNM2):c.2451C>G (p.Ser817Arg)
|
rs751961437
|
|
NM_001005361.3(DNM2):c.2462A>G (p.Asn821Ser)
|
|
|
NM_001005361.3(DNM2):c.2465G>A (p.Ser822Asn)
|
rs1301279979
|
|
NM_001005361.3(DNM2):c.2479G>A (p.Ala827Thr)
|
rs1599641452
|
|
NM_001005361.3(DNM2):c.2495C>T (p.Pro832Leu)
|
rs2073294248
|
|
NM_001005361.3(DNM2):c.2513T>G (p.Ile838Ser)
|
|
|
NM_001005361.3(DNM2):c.2526T>G (p.Ile842Met)
|
|
|
NM_001005361.3(DNM2):c.2527C>T (p.Pro843Ser)
|
rs2146210571
|
|
NM_001005361.3(DNM2):c.2531C>T (p.Pro844Leu)
|
rs1398139585
|
|
NM_001005361.3(DNM2):c.2534G>T (p.Gly845Val)
|
|
|
NM_001005361.3(DNM2):c.2543+1G>A
|
rs2146210623
|
|
NM_001005361.3(DNM2):c.2543+5G>C
|
rs2073295708
|
|
NM_001005361.3(DNM2):c.2544-3C>T
|
rs2073330199
|
|
NM_001005361.3(DNM2):c.2555C>G (p.Pro852Arg)
|
|
|
NM_001005361.3(DNM2):c.2555C>T (p.Pro852Leu)
|
|
|
NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val)
|
rs776073354
|
|
NM_001005361.3(DNM2):c.2571_2593del (p.Pro858fs)
|
|
|
NM_001005361.3(DNM2):c.2571_2593dup (p.Glu865fs)
|
rs2146213977
|
|
NM_001005361.3(DNM2):c.2572C>T (p.Pro858Ser)
|
|
|
NM_001005361.3(DNM2):c.2573C>A (p.Pro858His)
|
rs2146214048
|
|
NM_001005361.3(DNM2):c.2573C>T (p.Pro858Leu)
|
rs2146214048
|
|
NM_001005361.3(DNM2):c.2573CCA[1] (p.Thr859del)
|
rs1599643472
|
|
NM_001005361.3(DNM2):c.2576_2581del (p.Thr859_Ile860del)
|
rs876661117
|
|
NM_001005361.3(DNM2):c.2581A>T (p.Ile861Phe)
|
|
|
NM_001005361.3(DNM2):c.2585G>A (p.Arg862His)
|
|
|
NM_001005361.3(DNM2):c.2585G>C (p.Arg862Pro)
|
|
|
NM_001005361.3(DNM2):c.2593G>C (p.Glu865Gln)
|
rs746818628
|
|
NM_001005361.3(DNM2):c.2593_2597del (p.Glu865fs)
|
|
|
NM_001005361.3(DNM2):c.2596C>T (p.Pro866Ser)
|
rs1242764198
|
|
NM_001005361.3(DNM2):c.2600C>A (p.Ser867Tyr)
|
|
|
NM_001005361.3(DNM2):c.2603T>C (p.Leu868Pro)
|
|
|
NM_001005361.3(DNM2):c.2606T>C (p.Leu869Pro)
|
rs1703984974
|
|
NM_001005361.3(DNM2):c.296A>G (p.Gln99Arg)
|
|
|
NM_001005361.3(DNM2):c.313A>T (p.Thr105Ser)
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|
|
NM_001005361.3(DNM2):c.322G>C (p.Val108Leu)
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|
|
NM_001005361.3(DNM2):c.323T>G (p.Val108Gly)
|
|
|
NM_001005361.3(DNM2):c.331A>G (p.Thr111Ala)
|
rs2145911597
|
|
NM_001005361.3(DNM2):c.331A>T (p.Thr111Ser)
|
rs2145911597
|
|
NM_001005361.3(DNM2):c.345C>G (p.Ile115Met)
|
rs753176358
|
|
NM_001005361.3(DNM2):c.368G>A (p.Arg123Gln)
|
|
|
NM_001005361.3(DNM2):c.376T>G (p.Ser126Ala)
|
rs2071018084
|
|
NM_001005361.3(DNM2):c.385+12G>A
|
|
|
NM_001005361.3(DNM2):c.385+6C>T
|
rs746068458
|
|
NM_001005361.3(DNM2):c.385G>A (p.Val129Met)
|
|
|
NM_001005361.3(DNM2):c.427G>C (p.Val143Leu)
|
rs1366173686
|
|
NM_001005361.3(DNM2):c.433G>A (p.Val145Met)
|
|
|
NM_001005361.3(DNM2):c.438C>T (p.Gly146=)
|
|
|
NM_001005361.3(DNM2):c.439G>C (p.Asp147His)
|
rs370086632
|
|
NM_001005361.3(DNM2):c.448C>T (p.Pro150Ser)
|
rs2071133001
|
|
NM_001005361.3(DNM2):c.451G>A (p.Asp151Asn)
|
rs2145924541
|
|
NM_001005361.3(DNM2):c.454A>G (p.Ile152Val)
|
|
|
NM_001005361.3(DNM2):c.471G>T (p.Lys157Asn)
|
rs757708760
|
|
NM_001005361.3(DNM2):c.481C>A (p.Leu161Met)
|
rs1060503547
|
|
NM_001005361.3(DNM2):c.494G>A (p.Ser165Asn)
|
rs1599529964
|
|
NM_001005361.3(DNM2):c.499G>A (p.Glu167Lys)
|
|
|
NM_001005361.3(DNM2):c.533A>G (p.Asn178Ser)
|
rs777564981
|
|
NM_001005361.3(DNM2):c.556G>T (p.Ala186Ser)
|
|
|
NM_001005361.3(DNM2):c.565C>A (p.Leu189Met)
|
|
|
NM_001005361.3(DNM2):c.577G>A (p.Val193Ile)
|
rs2145924827
|
|
NM_001005361.3(DNM2):c.589+5C>A
|
rs1290724089
|
|
NM_001005361.3(DNM2):c.590G>A (p.Gly197Asp)
|
|
|
NM_001005361.3(DNM2):c.596G>A (p.Arg199Gln)
|
rs1568294706
|
|
NM_001005361.3(DNM2):c.625C>T (p.Leu209=)
|
rs927749691
|
|
NM_001005361.3(DNM2):c.645C>A (p.Asp215Glu)
|
rs148900299
|
|
NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser)
|
rs2071182880
|
|
NM_001005361.3(DNM2):c.655G>A (p.Val219Ile)
|
rs111845811
|
|
NM_001005361.3(DNM2):c.658T>G (p.Leu220Val)
|
|
|
NM_001005361.3(DNM2):c.661G>A (p.Glu221Lys)
|
|
|
NM_001005361.3(DNM2):c.670T>A (p.Leu224Met)
|
rs2145929613
|
|
NM_001005361.3(DNM2):c.688G>A (p.Gly230Ser)
|
rs1245632083
|
|
NM_001005361.3(DNM2):c.695T>C (p.Ile232Thr)
|
rs749672066
|
|
NM_001005361.3(DNM2):c.695T>G (p.Ile232Ser)
|
rs749672066
|
|
NM_001005361.3(DNM2):c.700G>A (p.Val234Met)
|
rs377159042
|
|
NM_001005361.3(DNM2):c.700G>T (p.Val234Leu)
|
|
|
NM_001005361.3(DNM2):c.726T>G (p.Ile242Met)
|
|
|
NM_001005361.3(DNM2):c.733A>G (p.Lys245Glu)
|
rs2071429703
|
|
NM_001005361.3(DNM2):c.739G>C (p.Asp247His)
|
|
|
NM_001005361.3(DNM2):c.742A>G (p.Ile248Val)
|
|
|
NM_001005361.3(DNM2):c.744C>G (p.Ile248Met)
|
|
|
NM_001005361.3(DNM2):c.746G>A (p.Arg249His)
|
|
|
NM_001005361.3(DNM2):c.758C>T (p.Ala253Val)
|
rs752195631
|
|
NM_001005361.3(DNM2):c.767G>T (p.Arg256Met)
|
|
|
NM_001005361.3(DNM2):c.770A>G (p.Lys257Arg)
|
rs1568298074
|
|
NM_001005361.3(DNM2):c.776T>C (p.Phe259Ser)
|
|
|
NM_001005361.3(DNM2):c.778C>G (p.Leu260Val)
|
rs145607989
|
|
NM_001005361.3(DNM2):c.782C>G (p.Ser261Cys)
|
rs2071430985
|
|
NM_001005361.3(DNM2):c.784C>T (p.His262Tyr)
|
|
|
NM_001005361.3(DNM2):c.787C>T (p.Pro263Ser)
|
|
|
NM_001005361.3(DNM2):c.788C>G (p.Pro263Arg)
|
|
|
NM_001005361.3(DNM2):c.796C>T (p.Arg266Trp)
|
rs552366130
|
|
NM_001005361.3(DNM2):c.802A>G (p.Met268Val)
|
|
|
NM_001005361.3(DNM2):c.806C>T (p.Ala269Val)
|
rs868210157
|
|
NM_001005361.3(DNM2):c.812G>T (p.Arg271Leu)
|
rs781546006
|
|
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr)
|
rs2071432774
|
|
NM_001005361.3(DNM2):c.838A>G (p.Thr280Ala)
|
rs2071433079
|
|
NM_001005361.3(DNM2):c.848A>G (p.Gln283Arg)
|
|
|
NM_001005361.3(DNM2):c.852A>G (p.Gln284=)
|
|
|
NM_001005361.3(DNM2):c.857C>T (p.Thr286Ile)
|
rs747798217
|
|
NM_001005361.3(DNM2):c.860A>G (p.Asn287Ser)
|
rs1224102421
|
|
NM_001005361.3(DNM2):c.868C>G (p.Arg290Gly)
|
rs587778235
|
|
NM_001005361.3(DNM2):c.884C>T (p.Ala295Val)
|
|
|
NM_001005361.3(DNM2):c.890G>T (p.Arg297Leu)
|
rs763894364
|
|
NM_001005361.3(DNM2):c.892A>G (p.Ser298Gly)
|
|
|
NM_001005361.3(DNM2):c.896A>G (p.Lys299Arg)
|
|
|
NM_001005361.3(DNM2):c.931G>A (p.Val311Met)
|
rs2145978014
|
|
NM_001005361.3(DNM2):c.949T>C (p.Phe317Leu)
|
rs1057518858
|
|
NM_001005361.3(DNM2):c.953G>A (p.Arg318Gln)
|
rs879254323
|
|
NM_001005361.3(DNM2):c.961G>A (p.Asp321Asn)
|
rs745794161
|
|
NM_001005361.3(DNM2):c.982G>A (p.Ala328Thr)
|
rs2145978260
|
|
NM_001005361.3(DNM2):c.992+20C>G
|
|
|
NM_001005361.3(DNM2):c.992+3A>G
|
rs1053695479
|
|
NM_001005361.3(DNM2):c.992+4T>C
|
rs1225723240
|
|
NM_001005361.3(DNM2):c.992+4T>G
|
rs1225723240
|
|
NM_001005361.3(DNM2):c.997G>A (p.Val333Ile)
|
|
|
NM_001190716.2(DNM2):c.2544-3_2544-1del
|
|
|