NM_001386795.1(DTNA):c.149-285A>T
|
rs1383291
|
0.81703
|
NM_001386795.1(DTNA):c.149-265A>C
|
rs1383290
|
0.45586
|
NM_001386795.1(DTNA):c.1002-2486C>T
|
rs1626394
|
0.30854
|
NM_001386795.1(DTNA):c.1253+130G>A
|
rs1954861
|
0.30301
|
NM_001386795.1(DTNA):c.2162+21A>G
|
rs2288085
|
0.29006
|
NM_001386795.1(DTNA):c.1086-464T>C
|
rs9946576
|
0.27097
|
NM_001386795.1(DTNA):c.1175+118T>C
|
rs1790534
|
0.26445
|
NM_001386795.1(DTNA):c.877-239G>T
|
rs1786597
|
0.25583
|
NM_001386795.1(DTNA):c.1253+51T>A
|
rs17557695
|
0.24952
|
NM_001386795.1(DTNA):c.2163-137A>G
|
rs623966
|
0.22610
|
NM_001386795.1(DTNA):c.1743+2273A>G
|
rs582352
|
0.19855
|
NM_001386795.1(DTNA):c.*2761C>T
|
rs7227051
|
0.19742
|
NM_001386795.1(DTNA):c.603+168A>G
|
rs59586657
|
0.18779
|
NM_001386795.1(DTNA):c.1904-246A>T
|
rs693540
|
0.18771
|
NM_001386795.1(DTNA):c.363-82C>A
|
rs11664472
|
0.18434
|
NM_001386795.1(DTNA):c.1743+2409C>T
|
rs506619
|
0.18355
|
NM_001386795.1(DTNA):c.1743+159C>T
|
rs9963649
|
0.18292
|
NM_001386795.1(DTNA):c.1646+305C>G
|
rs1786584
|
0.18246
|
NM_001386795.1(DTNA):c.1532+225A>G
|
rs1786606
|
0.18215
|
NM_001386795.1(DTNA):c.448+72T>C
|
rs9952711
|
0.18162
|
NM_001386795.1(DTNA):c.363-102A>G
|
rs11664422
|
0.18124
|
NM_001386795.1(DTNA):c.1743+2271C>T
|
rs507645
|
0.17406
|
NM_001386795.1(DTNA):c.2295+253C>T
|
rs8095931
|
0.16500
|
NM_001386795.1(DTNA):c.876+474C>A
|
rs72963047
|
0.16391
|
NM_001386795.1(DTNA):c.363-198A>G
|
rs11664400
|
0.15467
|
NM_001386795.1(DTNA):c.2295+200C>T
|
rs8095787
|
0.15417
|
NM_001386795.1(DTNA):c.1743+140A>G
|
rs16966095
|
0.15094
|
NM_001386795.1(DTNA):c.876+747A>T
|
rs1790525
|
0.14606
|
NM_001386795.1(DTNA):c.877-169G>T
|
rs1790540
|
0.14597
|
NM_001386795.1(DTNA):c.1001+31del
|
rs3216115
|
0.14579
|
NM_001386795.1(DTNA):c.603+137G>A
|
rs72963034
|
0.14420
|
NM_001386795.1(DTNA):c.710-544C>T
|
rs9959254
|
0.12157
|
NM_001386795.1(DTNA):c.1002-132A>G
|
rs1790526
|
0.10553
|
NM_001386795.1(DTNA):c.1254-75T>A
|
rs1941753
|
0.09979
|
NM_001386795.1(DTNA):c.363-58T>C
|
rs4458079
|
0.09905
|
NM_001386795.1(DTNA):c.*2272C>T
|
rs10502637
|
0.08483
|
NM_001386795.1(DTNA):c.362+129A>G
|
rs79500711
|
0.07115
|
NM_032975.4(DTNA):c.-126-99A>T
|
rs3875084
|
0.06618
|
NM_001386795.1(DTNA):c.448+238C>A
|
rs9963765
|
0.05466
|
NM_001386795.1(DTNA):c.1253+54A>G
|
rs73949007
|
0.03074
|
NM_001386795.1(DTNA):c.1085+250A>G
|
rs60191917
|
0.03067
|
NM_001386795.1(DTNA):c.1994-138A>G
|
rs58591324
|
0.02935
|
NM_001386795.1(DTNA):c.363-150A>G
|
rs16965989
|
0.02751
|
NM_001386795.1(DTNA):c.-1-287A>T
|
rs75850110
|
0.02738
|
NM_001386795.1(DTNA):c.2295+321C>T
|
rs140634474
|
0.02139
|
NM_001386795.1(DTNA):c.709+260G>A
|
rs145396517
|
0.01892
|
NM_001386795.1(DTNA):c.*234G>A
|
rs16966155
|
0.01830
|
NM_001386795.1(DTNA):c.1002-2609G>A
|
rs16966029
|
0.01703
|
NM_001386795.1(DTNA):c.149-181T>C
|
rs73412657
|
0.01642
|
NM_001386795.1(DTNA):c.603+167C>T
|
rs76038129
|
0.01510
|
NM_001386795.1(DTNA):c.1532+220G>C
|
rs112067476
|
0.01472
|
NM_032975.4(DTNA):c.-126-85723C>T
|
rs116012046
|
0.01138
|
NM_001386795.1(DTNA):c.-1-279A>G
|
rs6650657
|
0.01080
|
NM_001386795.1(DTNA):c.2296-102C>G
|
rs28650208
|
0.01067
|
NM_001386795.1(DTNA):c.1434+222G>A
|
rs71363470
|
0.00966
|
NM_001386795.1(DTNA):c.449-106A>G
|
rs7237746
|
0.00951
|
NM_001386795.1(DTNA):c.362+260T>C
|
rs34669760
|
0.00922
|
NM_001386795.1(DTNA):c.933C>T (p.Ser311=)
|
rs114170541
|
0.00902
|
NM_001386795.1(DTNA):c.1175+208T>G
|
rs77785636
|
0.00888
|
NM_001386795.1(DTNA):c.1175+190C>T
|
rs148773881
|
0.00886
|
NM_001386795.1(DTNA):c.1002-2535A>G
|
rs115311309
|
0.00885
|
NM_001386795.1(DTNA):c.*2523A>G
|
rs114631141
|
0.00813
|
NM_001386795.1(DTNA):c.1086-472A>G
|
rs117594057
|
0.00794
|
NM_001386795.1(DTNA):c.1086-516T>A
|
rs139678659
|
0.00718
|
NM_001386795.1(DTNA):c.68-242C>G
|
rs190610201
|
0.00703
|
NM_001386795.1(DTNA):c.1435-83C>A
|
rs73949013
|
0.00655
|
NM_001386795.1(DTNA):c.1646+283G>A
|
rs185245450
|
0.00514
|
NM_001386795.1(DTNA):c.1176-254A>G
|
rs73418640
|
0.00462
|
NM_001386795.1(DTNA):c.210G>A (p.Leu70=)
|
rs117571555
|
0.00459
|
NM_001386795.1(DTNA):c.1532+135T>C
|
rs75355506
|
0.00369
|
NM_001386795.1(DTNA):c.1435-19T>C
|
rs141620769
|
0.00328
|
NM_001386795.1(DTNA):c.1743+72G>A
|
rs116598952
|
0.00296
|
NM_001386795.1(DTNA):c.243A>G (p.Leu81=)
|
rs146923532
|
0.00285
|
NM_001386795.1(DTNA):c.148+29A>G
|
rs75545220
|
0.00231
|
NM_001386795.1(DTNA):c.1904-230T>C
|
rs147637404
|
0.00230
|
NM_001386795.1(DTNA):c.1176-8T>C
|
rs41274310
|
0.00216
|
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)
|
rs139872140
|
0.00207
|
NM_001386795.1(DTNA):c.604-14G>T
|
rs397517447
|
0.00123
|
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met)
|
rs148123045
|
0.00120
|
NM_001386795.1(DTNA):c.2178A>C (p.Ala726=)
|
rs145486636
|
0.00063
|
NM_001386795.1(DTNA):c.1149C>T (p.Tyr383=)
|
rs559493183
|
0.00051
|
NM_001386795.1(DTNA):c.1176-47C>A
|
rs150347998
|
0.00048
|
NM_001386795.1(DTNA):c.955A>G (p.Met319Val)
|
rs141981161
|
0.00047
|
NM_001386795.1(DTNA):c.1480G>A (p.Asp494Asn)
|
rs144880521
|
0.00037
|
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln)
|
rs138143719
|
0.00034
|
NM_001386795.1(DTNA):c.51G>A (p.Gln17=)
|
rs368000651
|
0.00030
|
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln)
|
rs142009291
|
0.00028
|
NM_001386795.1(DTNA):c.1404G>A (p.Ala468=)
|
rs144776465
|
0.00025
|
NM_001386795.1(DTNA):c.1330C>T (p.Arg444Trp)
|
rs199867593
|
0.00024
|
NM_001386795.1(DTNA):c.126G>A (p.Arg42=)
|
rs376001633
|
0.00020
|
NM_001386795.1(DTNA):c.2283T>C (p.Asp761=)
|
rs187028045
|
0.00020
|
NM_032975.4(DTNA):c.-126-85934C>T
|
rs748544066
|
0.00020
|
NM_001386795.1(DTNA):c.*2600C>T
|
rs794729006
|
0.00019
|
NM_001386795.1(DTNA):c.1918T>C (p.Leu640=)
|
rs372620035
|
0.00019
|
NM_001386795.1(DTNA):c.*2571C>T
|
rs779508079
|
0.00016
|
NM_001386795.1(DTNA):c.1485G>A (p.Ala495=)
|
rs397517443
|
0.00016
|
NM_001386795.1(DTNA):c.1308C>T (p.Ile436=)
|
rs368913791
|
0.00011
|
NM_001386795.1(DTNA):c.1652G>A (p.Arg551His)
|
rs142108185
|
0.00011
|
NM_001386795.1(DTNA):c.1086-321A>C
|
rs191973037
|
0.00010
|
NM_001386795.1(DTNA):c.614C>T (p.Thr205Met)
|
rs201071018
|
0.00010
|
NM_001386795.1(DTNA):c.371A>G (p.His124Arg)
|
rs150147476
|
0.00009
|
NM_001386795.1(DTNA):c.*2592C>T
|
rs530439494
|
0.00008
|
NM_001386795.1(DTNA):c.1454G>C (p.Ser485Thr)
|
rs190619495
|
0.00008
|
NM_001386795.1(DTNA):c.482T>C (p.Val161Ala)
|
rs199960642
|
0.00008
|
NM_001386795.1(DTNA):c.229A>G (p.Asn77Asp)
|
rs147782267
|
0.00007
|
NM_001386795.1(DTNA):c.1592C>T (p.Thr531Met)
|
rs199828427
|
0.00006
|
NM_001386795.1(DTNA):c.239G>A (p.Arg80His)
|
rs774912781
|
0.00006
|
NM_001386795.1(DTNA):c.1813C>T (p.Arg605Trp)
|
rs749405895
|
0.00005
|
NM_001386795.1(DTNA):c.1848G>A (p.Thr616=)
|
rs373742103
|
0.00005
|
NM_001386795.1(DTNA):c.675G>A (p.Leu225=)
|
rs376519672
|
0.00005
|
NM_001386795.1(DTNA):c.1875G>A (p.Gly625=)
|
rs542483546
|
0.00004
|
NM_001386795.1(DTNA):c.2153G>A (p.Arg718His)
|
rs111587625
|
0.00004
|
NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met)
|
rs200977103
|
0.00004
|
NM_001386795.1(DTNA):c.904G>A (p.Ala302Thr)
|
rs199983981
|
0.00004
|
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu)
|
rs145425478
|
0.00003
|
NM_001386795.1(DTNA):c.1965G>A (p.Met655Ile)
|
rs749109824
|
0.00003
|
NM_001386795.1(DTNA):c.479G>A (p.Gly160Glu)
|
rs201550119
|
0.00003
|
NM_001386795.1(DTNA):c.604-13T>G
|
rs761037945
|
0.00003
|
NM_001386795.1(DTNA):c.937C>T (p.Arg313Cys)
|
rs536920784
|
0.00003
|
NM_001386795.1(DTNA):c.182C>G (p.Ala61Gly)
|
rs767620520
|
0.00002
|
NM_001386795.1(DTNA):c.2227C>T (p.Arg743Trp)
|
rs774768713
|
0.00002
|
NM_001386795.1(DTNA):c.642G>A (p.Met214Ile)
|
rs745752400
|
0.00002
|
NM_001386795.1(DTNA):c.869C>T (p.Thr290Met)
|
rs747834756
|
0.00002
|
NM_001386795.1(DTNA):c.-2+12T>C
|
rs1231051971
|
0.00001
|
NM_001386795.1(DTNA):c.1007C>T (p.Pro336Leu)
|
rs1293106380
|
0.00001
|
NM_001386795.1(DTNA):c.1030G>A (p.Asp344Asn)
|
rs374347283
|
0.00001
|
NM_001386795.1(DTNA):c.112G>A (p.Ala38Thr)
|
rs200256996
|
0.00001
|
NM_001386795.1(DTNA):c.140A>G (p.Lys47Arg)
|
rs1298586276
|
0.00001
|
NM_001386795.1(DTNA):c.1613A>G (p.Asn538Ser)
|
rs770486884
|
0.00001
|
NM_001386795.1(DTNA):c.1649A>G (p.Gln550Arg)
|
rs1436377008
|
0.00001
|
NM_001386795.1(DTNA):c.1695C>T (p.Ser565=)
|
rs774966330
|
0.00001
|
NM_001386795.1(DTNA):c.2101C>T (p.His701Tyr)
|
rs772866088
|
0.00001
|
NM_001386795.1(DTNA):c.2195C>T (p.Pro732Leu)
|
rs1456993704
|
0.00001
|
NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe)
|
rs533568822
|
0.00001
|
NM_001386795.1(DTNA):c.2228G>A (p.Arg743Gln)
|
rs371303988
|
0.00001
|
NM_001386795.1(DTNA):c.295A>G (p.Thr99Ala)
|
rs200736432
|
0.00001
|
NM_001386795.1(DTNA):c.358G>C (p.Asp120His)
|
rs1401291574
|
0.00001
|
NM_001386795.1(DTNA):c.476G>A (p.Ser159Asn)
|
rs147115867
|
0.00001
|
NM_001386795.1(DTNA):c.646G>T (p.Asp216Tyr)
|
rs769662524
|
0.00001
|
NM_001386795.1(DTNA):c.660G>T (p.Gln220His)
|
rs1031348434
|
0.00001
|
NM_001386795.1(DTNA):c.68-5A>G
|
rs1243110074
|
0.00001
|
NM_001386795.1(DTNA):c.695C>T (p.Ala232Val)
|
rs771510372
|
0.00001
|
NM_001386795.1(DTNA):c.720G>A (p.Pro240=)
|
rs778548302
|
0.00001
|
NM_001386795.1(DTNA):c.784C>T (p.His262Tyr)
|
rs369043538
|
0.00001
|
NM_001386795.1(DTNA):c.840T>C (p.His280=)
|
rs933476610
|
0.00001
|
NM_001386795.1(DTNA):c.93A>G (p.Arg31=)
|
rs778817036
|
0.00001
|
NM_001386795.1(DTNA):c.944C>G (p.Pro315Arg)
|
rs138085660
|
0.00001
|
NM_001386795.1(DTNA):c.962C>T (p.Pro321Leu)
|
rs774455487
|
0.00001
|
GRCh37/hg19 18q12.1(chr18:32019324-32389224)x3
|
|
|
NM_001386795.1(DTNA):c.*2601del
|
rs1198295453
|
|
NM_001386795.1(DTNA):c.-2+231GT[11]
|
rs113472325
|
|
NM_001386795.1(DTNA):c.-2+231GT[12]
|
rs113472325
|
|
NM_001386795.1(DTNA):c.-2+231GT[14]
|
rs113472325
|
|
NM_001386795.1(DTNA):c.-2+231GT[15]
|
rs113472325
|
|
NM_001386795.1(DTNA):c.1001+125dup
|
|
|
NM_001386795.1(DTNA):c.1002-2520del
|
rs140760840
|
|
NM_001386795.1(DTNA):c.1002-2520dup
|
rs140760840
|
|
NM_001386795.1(DTNA):c.1002-2635_1002-2631del
|
rs148188981
|
|
NM_001386795.1(DTNA):c.1002-2640del
|
rs35456039
|
|
NM_001386795.1(DTNA):c.1002-2640dup
|
rs35456039
|
|
NM_001386795.1(DTNA):c.1002-2641_1002-2640dup
|
rs35456039
|
|
NM_001386795.1(DTNA):c.1002-2642_1002-2640del
|
rs35456039
|
|
NM_001386795.1(DTNA):c.1167C>T (p.His389=)
|
|
|
NM_001386795.1(DTNA):c.1295A>C (p.Glu432Ala)
|
|
|
NM_001386795.1(DTNA):c.1325T>C (p.Met442Thr)
|
rs1057524416
|
|
NM_001386795.1(DTNA):c.1347-69del
|
rs150998285
|
|
NM_001386795.1(DTNA):c.148+144G>T
|
rs1383288
|
|
NM_001386795.1(DTNA):c.149-128T>C
|
rs9989533
|
|
NM_001386795.1(DTNA):c.1545G>A (p.Gln515=)
|
rs1057521200
|
|
NM_001386795.1(DTNA):c.1743+205_1743+206dup
|
rs555273655
|
|
NM_001386795.1(DTNA):c.1743+206dup
|
rs555273655
|
|
NM_001386795.1(DTNA):c.1743+212G>A
|
rs576838640
|
|
NM_001386795.1(DTNA):c.1744-10G>T
|
rs192561043
|
|
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His)
|
rs200246467
|
|
NM_001386795.1(DTNA):c.1877G>A (p.Gly626Glu)
|
rs200805008
|
|
NM_001386795.1(DTNA):c.1993+161del
|
rs140501534
|
|
NM_001386795.1(DTNA):c.1999G>A (p.Gly667Arg)
|
|
|
NM_001386795.1(DTNA):c.209T>C (p.Leu70Pro)
|
rs1060503523
|
|
NM_001386795.1(DTNA):c.2163-210dup
|
rs35635435
|
|
NM_001386795.1(DTNA):c.2296-101TG[3]
|
rs35187424
|
|
NM_001386795.1(DTNA):c.2296-194_2296-193del
|
rs10554763
|
|
NM_001386795.1(DTNA):c.231C>T (p.Asn77=)
|
rs147759402
|
|
NM_001386795.1(DTNA):c.331C>T (p.Leu111Phe)
|
rs1555801105
|
|
NM_001386795.1(DTNA):c.496C>T (p.Arg166Ter)
|
rs2095495862
|
|
NM_001386795.1(DTNA):c.537G>A (p.Thr179=)
|
rs11877640
|
|
NM_001386795.1(DTNA):c.574C>T (p.Gln192Ter)
|
rs2149332392
|
|
NM_001386795.1(DTNA):c.604-7dup
|
|
|
NM_001390.4(DTNA):c.*31+205G>C
|
rs565255
|
|
NM_001390.4(DTNA):c.*31+205G>T
|
rs565255
|
|
NM_032975.4(DTNA):c.-126-85981G>C
|
|
|
NM_032975.4(DTNA):c.-127+62G>A
|
rs112193831
|
|