NM_001005361.3(DNM2):c.992+231G>A
|
rs8102648
|
0.93725
|
NM_001005361.3(DNM2):c.236-29C>G
|
rs3826803
|
0.56569
|
NM_001005361.3(DNM2):c.1128+158G>C
|
rs1610095
|
0.52451
|
NM_001005361.3(DNM2):c.1128+169T>C
|
rs2278444
|
0.34249
|
NM_001005361.3(DNM2):c.386-173G>T
|
rs4804528
|
0.32115
|
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=)
|
rs2229920
|
0.30148
|
NM_001005361.3(DNM2):c.1893+248T>C
|
rs67417605
|
0.29061
|
NM_001005361.3(DNM2):c.*268A>T
|
rs12461992
|
0.17591
|
NM_001005361.3(DNM2):c.2058+262A>G
|
rs12973986
|
0.15029
|
NM_001005361.3(DNM2):c.1545+41C>T
|
rs2287029
|
0.12846
|
NM_001005361.3(DNM2):c.1893+31_1893+32insC
|
rs138202845
|
0.06030
|
NM_001005361.3(DNM2):c.2292-85A>G
|
rs58724234
|
0.05980
|
NM_001005361.3(DNM2):c.2058+89G>A
|
rs57561584
|
0.05640
|
NM_001005361.3(DNM2):c.161+228C>G
|
rs113305450
|
0.05468
|
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=)
|
rs112238216
|
0.02416
|
NM_001005361.3(DNM2):c.590-168T>C
|
rs10405772
|
0.02208
|
NM_001005361.3(DNM2):c.1894-181G>A
|
rs114589854
|
0.01671
|
NM_001005361.3(DNM2):c.2059-136G>C
|
rs8109524
|
0.01465
|
NM_001005361.3(DNM2):c.1671+283G>A
|
rs60053169
|
0.01297
|
NM_001005361.3(DNM2):c.1557+193G>A
|
rs146942869
|
0.01227
|
NM_001005361.3(DNM2):c.1493+252C>G
|
rs117843888
|
0.01174
|
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=)
|
rs114682382
|
0.01064
|
NM_001005361.3(DNM2):c.2291+153G>A
|
rs113951641
|
0.01022
|
NM_001005361.3(DNM2):c.235+12C>A
|
rs147026993
|
0.00953
|
NM_001005361.3(DNM2):c.385+60A>G
|
rs116398690
|
0.00931
|
NM_001005361.3(DNM2):c.1782-11C>T
|
rs78580529
|
0.00921
|
NM_001005361.3(DNM2):c.1197-940A>G
|
rs79068463
|
0.00917
|
NM_001005361.3(DNM2):c.161+248G>C
|
rs75654370
|
0.00796
|
NM_001005361.3(DNM2):c.1336-196C>G
|
rs180679346
|
0.00751
|
NM_001005361.3(DNM2):c.235+6A>G
|
rs113192269
|
0.00748
|
NM_001005361.3(DNM2):c.1197-242G>T
|
rs115609558
|
0.00668
|
NM_001005361.3(DNM2):c.1335+324C>G
|
rs115672648
|
0.00630
|
NM_001005361.3(DNM2):c.1196+773C>T
|
rs150975494
|
0.00628
|
NM_001005361.3(DNM2):c.1336-82C>T
|
rs148385341
|
0.00564
|
NM_001005361.3(DNM2):c.*47G>A
|
rs367938944
|
0.00550
|
NM_001005361.3(DNM2):c.1672-337G>A
|
rs75646078
|
0.00509
|
NM_001005361.3(DNM2):c.1557+63C>T
|
rs114229076
|
0.00444
|
NM_001005361.3(DNM2):c.2543+7C>G
|
rs201979143
|
0.00364
|
NM_001005361.3(DNM2):c.236-8C>G
|
rs143084059
|
0.00361
|
NM_001005361.3(DNM2):c.589+132T>C
|
rs80295112
|
0.00360
|
NM_001005361.3(DNM2):c.589+139T>C
|
rs142918508
|
0.00360
|
NM_001005361.3(DNM2):c.519T>C (p.Ala173=)
|
rs77702567
|
0.00359
|
NM_001005361.3(DNM2):c.589+159C>T
|
rs151092170
|
0.00359
|
NM_001005361.3(DNM2):c.589+86G>A
|
rs146877273
|
0.00358
|
NM_001005361.3(DNM2):c.1128+241A>G
|
rs56274124
|
0.00352
|
NM_001005361.3(DNM2):c.1558-213G>C
|
rs191714992
|
0.00352
|
NM_001005361.3(DNM2):c.1545+14C>G
|
rs114713494
|
0.00350
|
NM_001005361.3(DNM2):c.1196+158A>C
|
rs186856304
|
0.00347
|
NM_001005361.3(DNM2):c.2544-235C>T
|
rs139137394
|
0.00339
|
NM_001005361.3(DNM2):c.689-103C>T
|
rs112762923
|
0.00314
|
NM_001005361.3(DNM2):c.1546-73C>T
|
rs141100592
|
0.00276
|
NM_001005361.3(DNM2):c.850-53C>T
|
rs527643558
|
0.00265
|
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390
|
0.00243
|
NM_001005361.3(DNM2):c.1781+17C>A
|
rs75344643
|
0.00220
|
NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn)
|
rs145478270
|
0.00168
|
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=)
|
rs117598326
|
0.00163
|
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919
|
0.00149
|
NM_001005361.3(DNM2):c.386-6T>A
|
rs114623441
|
0.00118
|
NM_001005361.3(DNM2):c.1218C>T (p.Asp406=)
|
rs147668465
|
0.00116
|
NM_001005361.3(DNM2):c.1782-5C>T
|
rs200103145
|
0.00113
|
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=)
|
rs149164657
|
0.00102
|
NM_001005361.3(DNM2):c.788C>T (p.Pro263Leu)
|
rs3745674
|
0.00043
|
NM_001005361.3(DNM2):c.*10G>A
|
rs200188660
|
0.00029
|
NM_001005361.3(DNM2):c.589+17G>T
|
rs374377836
|
0.00028
|
NM_001005361.3(DNM2):c.645C>T (p.Asp215=)
|
rs148900299
|
0.00028
|
NM_001005361.3(DNM2):c.2511G>A (p.Arg837=)
|
rs200100669
|
0.00027
|
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209
|
0.00026
|
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320
|
0.00024
|
NM_001005361.3(DNM2):c.1546-16C>T
|
rs375554484
|
0.00022
|
NM_001005361.3(DNM2):c.1893+18G>A
|
rs368748557
|
0.00022
|
NM_001005361.3(DNM2):c.2567G>A (p.Ser856Asn)
|
rs149825590
|
0.00021
|
NM_001005361.3(DNM2):c.882G>A (p.Pro294=)
|
rs144790170
|
0.00018
|
NM_001005361.3(DNM2):c.480C>T (p.Ile160=)
|
rs140036663
|
0.00017
|
NM_001005361.3(DNM2):c.1423-12G>A
|
rs376753915
|
0.00014
|
NM_001005361.3(DNM2):c.789G>A (p.Pro263=)
|
rs199976453
|
0.00014
|
NM_001005361.3(DNM2):c.822G>A (p.Thr274=)
|
rs201763720
|
0.00014
|
NM_001005361.3(DNM2):c.839C>T (p.Thr280Met)
|
rs202155679
|
0.00014
|
NM_001005361.3(DNM2):c.1827C>T (p.Ser609=)
|
rs371412466
|
0.00013
|
NM_001005361.3(DNM2):c.1422+9C>T
|
rs199952853
|
0.00012
|
NM_001005361.3(DNM2):c.957C>T (p.Pro319=)
|
rs141911457
|
0.00012
|
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala)
|
rs201575500
|
0.00011
|
NM_001005361.3(DNM2):c.2592C>T (p.Ala864=)
|
rs373161548
|
0.00011
|
NM_001005361.3(DNM2):c.316G>A (p.Asp106Asn)
|
rs375151459
|
0.00011
|
NM_001005361.3(DNM2):c.*14C>T
|
rs369529119
|
0.00010
|
NM_001005361.3(DNM2):c.2253T>C (p.Pro751=)
|
rs200155565
|
0.00009
|
NM_001005361.3(DNM2):c.2313G>A (p.Pro771=)
|
rs147463138
|
0.00009
|
NM_001005361.3(DNM2):c.315C>T (p.Thr105=)
|
rs111837150
|
0.00009
|
NM_001005361.3(DNM2):c.555C>T (p.Asp185=)
|
rs140788791
|
0.00009
|
NM_001005361.3(DNM2):c.633C>T (p.Asp211=)
|
rs200191870
|
0.00009
|
NM_001005361.3(DNM2):c.666C>T (p.Asn222=)
|
rs2229921
|
0.00008
|
NM_001005361.3(DNM2):c.876G>A (p.Ser292=)
|
rs749140605
|
0.00008
|
NM_001005361.3(DNM2):c.1196+778G>C
|
rs763908447
|
0.00006
|
NM_001005361.3(DNM2):c.1437C>T (p.Ile479=)
|
rs146506201
|
0.00006
|
NM_001005361.3(DNM2):c.1449G>A (p.Gln483=)
|
rs750299400
|
0.00006
|
NM_001005361.3(DNM2):c.1782-4G>A
|
rs767424969
|
0.00006
|
NM_001005361.3(DNM2):c.1893+10C>T
|
rs147321173
|
0.00006
|
NM_001005361.3(DNM2):c.2106G>C (p.Ser702=)
|
rs554971107
|
0.00006
|
NM_001005361.3(DNM2):c.2231T>C (p.Val744Ala)
|
rs777609224
|
0.00006
|
NM_001005361.3(DNM2):c.312G>A (p.Glu104=)
|
rs144970326
|
0.00006
|
NM_001005361.3(DNM2):c.450A>G (p.Pro150=)
|
rs766121627
|
0.00006
|
NM_001005361.3(DNM2):c.1969C>T (p.Arg657Cys)
|
rs772920450
|
0.00005
|
NM_001005361.3(DNM2):c.868C>T (p.Arg290Trp)
|
rs587778235
|
0.00005
|
NM_001005361.3(DNM2):c.1032C>T (p.Ile344=)
|
rs747050783
|
0.00004
|
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.162-16T>C
|
rs573469750
|
0.00004
|
NM_001005361.3(DNM2):c.1893+17C>T
|
rs45585238
|
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.2292-15T>A
|
rs534518685
|
0.00004
|
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=)
|
rs200968756
|
0.00004
|
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln)
|
rs117398902
|
0.00004
|
NM_001005361.3(DNM2):c.993-14C>T
|
rs761380478
|
0.00004
|
NM_001005361.3(DNM2):c.1423-9C>G
|
rs371006369
|
0.00003
|
NM_001005361.3(DNM2):c.1518G>C (p.Leu506=)
|
rs201426481
|
0.00003
|
NM_001005361.3(DNM2):c.2016C>T (p.Arg672=)
|
rs368131004
|
0.00003
|
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=)
|
rs768285660
|
0.00003
|
NM_001005361.3(DNM2):c.2523G>T (p.Gly841=)
|
rs1028907663
|
0.00003
|
NM_001005361.3(DNM2):c.471G>A (p.Lys157=)
|
rs757708760
|
0.00003
|
NM_001005361.3(DNM2):c.677C>T (p.Pro226Leu)
|
rs779734638
|
0.00003
|
NM_001005361.3(DNM2):c.992+11C>T
|
rs761511769
|
0.00003
|
NM_001005361.3(DNM2):c.1196+710G>A
|
rs140208362
|
0.00002
|
NM_001005361.3(DNM2):c.162-12C>T
|
rs746299224
|
0.00002
|
NM_001005361.3(DNM2):c.1836C>T (p.Asp612=)
|
rs767061986
|
0.00002
|
NM_001005361.3(DNM2):c.1912G>A (p.Ala638Thr)
|
rs587778236
|
0.00002
|
NM_001005361.3(DNM2):c.1004A>T (p.Gln335Leu)
|
rs759996048
|
0.00001
|
NM_001005361.3(DNM2):c.1071C>T (p.Ser357=)
|
rs779241319
|
0.00001
|
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)
|
rs121909090
|
0.00001
|
NM_001005361.3(DNM2):c.1128+13G>A
|
rs772437963
|
0.00001
|
NM_001005361.3(DNM2):c.1196+698C>A
|
rs879253980
|
0.00001
|
NM_001005361.3(DNM2):c.1352G>A (p.Arg451Gln)
|
rs749154067
|
0.00001
|
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)
|
rs776126973
|
0.00001
|
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val)
|
rs766613900
|
0.00001
|
NM_001005361.3(DNM2):c.1423-13C>T
|
rs771343870
|
0.00001
|
NM_001005361.3(DNM2):c.1423-4C>T
|
rs552776205
|
0.00001
|
NM_001005361.3(DNM2):c.1494-19G>T
|
rs1032876620
|
0.00001
|
NM_001005361.3(DNM2):c.1512G>A (p.Thr504=)
|
rs767407905
|
0.00001
|
NM_001005361.3(DNM2):c.162-6del
|
rs766449694
|
0.00001
|
NM_001005361.3(DNM2):c.1758C>T (p.Phe586=)
|
rs766274376
|
0.00001
|
NM_001005361.3(DNM2):c.183A>G (p.Ser61=)
|
rs149555942
|
0.00001
|
NM_001005361.3(DNM2):c.1872C>T (p.Gly624=)
|
rs774256221
|
0.00001
|
NM_001005361.3(DNM2):c.1894-9C>T
|
rs377410182
|
0.00001
|
NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly)
|
rs749994173
|
0.00001
|
NM_001005361.3(DNM2):c.1973A>G (p.Asn658Ser)
|
rs753175954
|
0.00001
|
NM_001005361.3(DNM2):c.2153G>A (p.Arg718Gln)
|
rs753677038
|
0.00001
|
NM_001005361.3(DNM2):c.2173A>G (p.Met725Val)
|
rs757876109
|
0.00001
|
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser)
|
rs577767034
|
0.00001
|
NM_001005361.3(DNM2):c.2434C>T (p.Arg812Trp)
|
rs2073292486
|
0.00001
|
NM_001005361.3(DNM2):c.243C>T (p.Ala81=)
|
rs755366581
|
0.00001
|
NM_001005361.3(DNM2):c.2544-19G>A
|
rs769617279
|
0.00001
|
NM_001005361.3(DNM2):c.402C>T (p.Leu134=)
|
rs748069348
|
0.00001
|
NM_001005361.3(DNM2):c.654C>T (p.Asp218=)
|
rs763948283
|
0.00001
|
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)
|
rs1217925152
|
0.00001
|
NM_001005361.3(DNM2):c.858C>G (p.Thr286=)
|
rs542637338
|
0.00001
|
NC_000019.10:g.10717821dup
|
rs35784277
|
|
NM_001005361.3(DNM2):c.1020T>G (p.Phe340Leu)
|
|
|
NM_001005361.3(DNM2):c.1051G>A (p.Val351Met)
|
rs876661176
|
|
NM_001005361.3(DNM2):c.1070C>T (p.Ser357Phe)
|
rs1064793101
|
|
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)
|
rs267606772
|
|
NM_001005361.3(DNM2):c.1091G>T (p.Arg364Leu)
|
|
|
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)
|
rs121909092
|
|
NM_001005361.3(DNM2):c.1106G>T (p.Arg369Leu)
|
rs121909089
|
|
NM_001005361.3(DNM2):c.1196+643C>T
|
rs563985581
|
|
NM_001005361.3(DNM2):c.1197-62G>C
|
rs74718485
|
|
NM_001005361.3(DNM2):c.1336-258TGCCTCC[3]
|
rs528685725
|
|
NM_001005361.3(DNM2):c.1370A>G (p.Glu457Gly)
|
rs1555711301
|
|
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091
|
|
NM_001005361.3(DNM2):c.1493+16G>A
|
rs1446097383
|
|
NM_001005361.3(DNM2):c.1494-43C>G
|
rs2287028
|
|
NM_001005361.3(DNM2):c.1545+11C>T
|
rs1555712626
|
|
NM_001005361.3(DNM2):c.1546-18A>C
|
rs1426762153
|
|
NM_001005361.3(DNM2):c.1557+9A>T
|
rs778469445
|
|
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)
|
rs587783595
|
|
NM_001005361.3(DNM2):c.1565G>T (p.Arg522Leu)
|
rs587783595
|
|
NM_001005361.3(DNM2):c.1584C>T (p.Ile528=)
|
rs935512495
|
|
NM_001005361.3(DNM2):c.1594A>G (p.Ser532Gly)
|
rs368752035
|
|
NM_001005361.3(DNM2):c.1609G>A (p.Gly537Ser)
|
rs121909093
|
|
NM_001005361.3(DNM2):c.162-7C>A
|
rs148318860
|
|
NM_001005361.3(DNM2):c.162-7C>T
|
rs148318860
|
|
NM_001005361.3(DNM2):c.162-9C>G
|
rs200736669
|
|
NM_001005361.3(DNM2):c.1665T>C (p.Asp555=)
|
rs1555713814
|
|
NM_001005361.3(DNM2):c.1671+325G>T
|
rs147796686
|
|
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.1739T>C (p.Met580Thr)
|
rs1269225724
|
|
NM_001005361.3(DNM2):c.1781+71CACTGAG[3]
|
rs142612564
|
|
NM_001005361.3(DNM2):c.1782-4G>C
|
rs767424969
|
|
NM_001005361.3(DNM2):c.1782-5del
|
rs760441017
|
|
NM_001005361.3(DNM2):c.1782-5dup
|
rs760441017
|
|
NM_001005361.3(DNM2):c.1782-7C>A
|
rs200843089
|
|
NM_001005361.3(DNM2):c.1809C>G (p.Ile603Met)
|
rs780409124
|
|
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr)
|
rs773598203
|
|
NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp)
|
rs121909095
|
|
NM_001005361.3(DNM2):c.1879C>G (p.Pro627Ala)
|
rs886039704
|
|
NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg)
|
rs587783598
|
|
NM_001005361.3(DNM2):c.1903G>A (p.Glu635Lys)
|
rs761198315
|
|
NM_001005361.3(DNM2):c.1934T>C (p.Met645Thr)
|
rs879253969
|
|
NM_001005361.3(DNM2):c.2058+292A>C
|
rs576987452
|
|
NM_001005361.3(DNM2):c.2066C>T (p.Ala689Val)
|
|
|
NM_001005361.3(DNM2):c.2201A>T (p.Asn734Ile)
|
rs577767034
|
|
NM_001005361.3(DNM2):c.2256C>G (p.Val752=)
|
rs751020224
|
|
NM_001005361.3(DNM2):c.2269C>A (p.Leu757Ile)
|
rs375820696
|
|
NM_001005361.3(DNM2):c.235+12C>T
|
rs147026993
|
|
NM_001005361.3(DNM2):c.235+240dup
|
rs113004875
|
|
NM_001005361.3(DNM2):c.2365C>G (p.Pro789Ala)
|
rs876661218
|
|
NM_001005361.3(DNM2):c.2479G>A (p.Ala827Thr)
|
rs1599641452
|
|
NM_001005361.3(DNM2):c.2543+140G>T
|
rs190422103
|
|
NM_001005361.3(DNM2):c.2576_2581del (p.Thr859_Ile860del)
|
rs876661117
|
|
NM_001005361.3(DNM2):c.2593_*3del (p.Glu865_Ter871del)
|
|
|
NM_001005361.3(DNM2):c.386-5C>G
|
rs1456914211
|
|
NM_001005361.3(DNM2):c.589+274C>G
|
rs111624191
|
|
NM_001005361.3(DNM2):c.589+274C>T
|
rs111624191
|
|
NM_001005361.3(DNM2):c.590-31CCTCTGA[3]
|
rs748362325
|
|
NM_001005361.3(DNM2):c.688+15del
|
rs1555706470
|
|
NM_001005361.3(DNM2):c.736A>T (p.Lys246Ter)
|
rs1555707649
|
|
NM_001005361.3(DNM2):c.794A>G (p.Tyr265Cys)
|
rs2145960453
|
|
NM_001005361.3(DNM2):c.831G>A (p.Leu277=)
|
rs1555707690
|
|
NM_001005361.3(DNM2):c.953G>A (p.Arg318Gln)
|
rs879254323
|
|
NM_001005361.3(DNM2):c.956C>T (p.Pro319Leu)
|
rs2145978158
|
|
NM_001005361.3(DNM2):c.992A>G (p.Gln331Arg)
|
rs879254084
|
|