|
NM_000108.5(DLD):c.*487C>T
|
rs4518
|
0.66588
|
|
NM_000108.5(DLD):c.*978T>C
|
rs2158835
|
0.66205
|
|
NM_000108.5(DLD):c.*1451T>C
|
rs2108223
|
0.66202
|
|
NM_000108.5(DLD):c.439-7T>C
|
rs10263341
|
0.66181
|
|
NM_000108.5(DLD):c.199-108T>C
|
rs10250718
|
0.66040
|
|
NM_000108.5(DLD):c.*207G>A
|
rs4564
|
0.65906
|
|
NM_000108.5(DLD):c.*18A>T
|
rs8721
|
0.31455
|
|
NM_000108.5(DLD):c.438+83G>A
|
rs17412104
|
0.31437
|
|
NM_000108.5(DLD):c.*1688G>A
|
rs8440
|
0.31157
|
|
NM_000108.5(DLD):c.*28G>T
|
rs17154615
|
0.10964
|
|
NM_000108.5(DLD):c.684+7G>A
|
rs75123588
|
0.06110
|
|
NM_000108.5(DLD):c.1351C>T (p.Leu451=)
|
rs1803921
|
0.04354
|
|
NM_000108.5(DLD):c.685-14T>A
|
rs80111449
|
0.02691
|
|
NM_000108.5(DLD):c.*855C>T
|
rs116055514
|
0.01464
|
|
NM_000108.5(DLD):c.675T>C (p.Gly225=)
|
rs73726765
|
0.01233
|
|
NM_000108.5(DLD):c.*648G>A
|
rs57801571
|
0.00985
|
|
NM_000108.5(DLD):c.249T>C (p.Val83=)
|
rs2228664
|
0.00985
|
|
NM_000108.5(DLD):c.777A>G (p.Lys259=)
|
rs1065762
|
0.00944
|
|
NM_000108.5(DLD):c.*1300A>G
|
rs77095705
|
0.00939
|
|
NM_000108.5(DLD):c.1422A>C (p.Gly474=)
|
rs34453495
|
0.00918
|
|
NM_000108.5(DLD):c.34G>A (p.Ala12Thr)
|
rs75077312
|
0.00666
|
|
NM_000108.5(DLD):c.*1145A>T
|
rs143750422
|
0.00638
|
|
NM_000108.5(DLD):c.*887T>C
|
rs16872396
|
0.00569
|
|
NM_000108.5(DLD):c.*1074C>G
|
rs149275540
|
0.00531
|
|
NM_000108.5(DLD):c.*474T>C
|
rs16872391
|
0.00479
|
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
|
NM_000108.5(DLD):c.1236+13A>G
|
rs2701026
|
0.00341
|
|
NM_000108.5(DLD):c.*1422C>T
|
rs568479120
|
0.00265
|
|
NM_000108.5(DLD):c.507C>T (p.Gly169=)
|
rs144351432
|
0.00241
|
|
NM_000108.5(DLD):c.*1640A>G
|
rs148148357
|
0.00209
|
|
NM_000108.5(DLD):c.826A>T (p.Thr276Ser)
|
rs148873419
|
0.00175
|
|
NM_000108.5(DLD):c.338-18T>A
|
rs184851386
|
0.00160
|
|
NM_000108.5(DLD):c.1464+11A>G
|
rs184949878
|
0.00088
|
|
NM_000108.5(DLD):c.583-3C>T
|
rs186031819
|
0.00088
|
|
NM_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
|
NM_000108.5(DLD):c.*1307C>T
|
rs568807016
|
0.00052
|
|
NM_000108.5(DLD):c.*1791_*1794del
|
rs760145994
|
0.00046
|
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
|
NM_000108.5(DLD):c.*1857A>C
|
rs774099916
|
0.00040
|
|
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)
|
rs144038427
|
0.00039
|
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
|
NM_000108.5(DLD):c.*1736T>C
|
rs190655078
|
0.00025
|
|
NM_000108.5(DLD):c.*845G>A
|
rs750426584
|
0.00024
|
|
NM_000108.5(DLD):c.321A>G (p.Ala107=)
|
rs138398782
|
0.00022
|
|
NM_000108.5(DLD):c.470C>G (p.Thr157Ser)
|
rs142232609
|
0.00021
|
|
NM_000108.5(DLD):c.519T>G (p.Val173=)
|
rs148559280
|
0.00021
|
|
NM_000108.5(DLD):c.*1092C>T
|
rs546777301
|
0.00020
|
|
NM_000108.5(DLD):c.282C>T (p.Asn94=)
|
rs144617361
|
0.00018
|
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
|
NM_000108.5(DLD):c.860G>A (p.Gly287Glu)
|
rs202125745
|
0.00016
|
|
NM_000108.5(DLD):c.*739G>A
|
rs181103944
|
0.00014
|
|
NM_000108.5(DLD):c.1395T>C (p.Asn465=)
|
rs76313180
|
0.00014
|
|
NM_000108.5(DLD):c.74A>C (p.Gln25Pro)
|
rs61749951
|
0.00014
|
|
NM_000108.5(DLD):c.-8G>T
|
rs372155330
|
0.00013
|
|
NM_000108.5(DLD):c.549G>A (p.Thr183=)
|
rs150630885
|
0.00012
|
|
NM_000108.5(DLD):c.267+9G>A
|
rs188936529
|
0.00011
|
|
NM_000108.5(DLD):c.337+7A>G
|
rs371072449
|
0.00010
|
|
NM_000108.5(DLD):c.876-6A>T
|
rs199944006
|
0.00010
|
|
NM_000108.5(DLD):c.*1877A>G
|
rs182010485
|
0.00009
|
|
NM_000108.5(DLD):c.1452T>C (p.Cys484=)
|
rs760982359
|
0.00008
|
|
NM_000108.5(DLD):c.*1505C>T
|
rs1053262850
|
0.00007
|
|
NM_000108.5(DLD):c.119-4G>A
|
rs376605135
|
0.00007
|
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
0.00006
|
|
NM_000108.5(DLD):c.1492A>C (p.Asn498His)
|
rs564889609
|
0.00006
|
|
NM_000108.5(DLD):c.508G>A (p.Gly170Ser)
|
rs567286177
|
0.00006
|
|
NM_000108.5(DLD):c.609T>C (p.Ser203=)
|
rs144590106
|
0.00006
|
|
NM_000108.5(DLD):c.807G>T (p.Gly269=)
|
rs912822748
|
0.00005
|
|
NM_000108.5(DLD):c.*1876G>A
|
rs142001971
|
0.00004
|
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
0.00004
|
|
NM_000108.5(DLD):c.764T>C (p.Met255Thr)
|
rs185710460
|
0.00004
|
|
NM_000108.5(DLD):c.814T>C (p.Phe272Leu)
|
rs942843326
|
0.00004
|
|
NM_000108.5(DLD):c.82T>C (p.Ser28Pro)
|
rs768123909
|
0.00004
|
|
NM_000108.5(DLD):c.869A>G (p.Asp290Gly)
|
rs143555186
|
0.00004
|
|
NM_000108.5(DLD):c.951C>G (p.Pro317=)
|
rs778207997
|
0.00004
|
|
NM_000108.5(DLD):c.105C>T (p.Tyr35=)
|
rs747810875
|
0.00003
|
|
NM_000108.5(DLD):c.1081A>G (p.Met361Val)
|
rs121964993
|
0.00003
|
|
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys)
|
rs763303046
|
0.00003
|
|
NM_000108.5(DLD):c.342C>T (p.Ser114=)
|
rs757785953
|
0.00003
|
|
NM_000108.5(DLD):c.495G>A (p.Thr165=)
|
rs202125454
|
0.00003
|
|
NM_000108.5(DLD):c.723A>C (p.Ala241=)
|
rs751488296
|
0.00003
|
|
NM_000108.5(DLD):c.92C>G (p.Pro31Arg)
|
rs776872575
|
0.00003
|
|
NM_000108.5(DLD):c.*355A>G
|
rs886061910
|
0.00002
|
|
NM_000108.5(DLD):c.1439T>C (p.Ile480Thr)
|
rs140260331
|
0.00002
|
|
NM_000108.5(DLD):c.1440A>G (p.Ile480Met)
|
rs772512477
|
0.00002
|
|
NM_000108.5(DLD):c.1503G>A (p.Ala501=)
|
rs766286119
|
0.00002
|
|
NM_000108.5(DLD):c.226C>T (p.Leu76Phe)
|
rs967089304
|
0.00002
|
|
NM_000108.5(DLD):c.36C>T (p.Ala12=)
|
rs780127925
|
0.00002
|
|
NM_000108.5(DLD):c.45C>G (p.Gly15=)
|
rs570539642
|
0.00002
|
|
NM_000108.5(DLD):c.528A>T (p.Thr176=)
|
rs1391814799
|
0.00002
|
|
NM_000108.5(DLD):c.597A>T (p.Thr199=)
|
rs768248572
|
0.00002
|
|
NM_000108.5(DLD):c.677T>C (p.Val226Ala)
|
rs750449027
|
0.00002
|
|
NM_000108.5(DLD):c.684+10G>A
|
rs1345267865
|
0.00002
|
|
NM_000108.5(DLD):c.735A>G (p.Leu245=)
|
rs754865063
|
0.00002
|
|
NM_000108.5(DLD):c.901G>A (p.Ala301Thr)
|
rs1466290130
|
0.00002
|
|
NM_000108.5(DLD):c.946C>T (p.Arg316Ter)
|
rs748682601
|
0.00002
|
|
NM_000108.5(DLD):c.*1401G>T
|
rs1266926415
|
0.00001
|
|
NM_000108.5(DLD):c.*1724C>G
|
rs886061913
|
0.00001
|
|
NM_000108.5(DLD):c.*225C>T
|
rs553824101
|
0.00001
|
|
NM_000108.5(DLD):c.*394A>G
|
rs1246423607
|
0.00001
|
|
NM_000108.5(DLD):c.1032A>G (p.Gln344=)
|
rs762641521
|
0.00001
|
|
NM_000108.5(DLD):c.104dup (p.Tyr35Ter)
|
rs753234219
|
0.00001
|
|
NM_000108.5(DLD):c.1101G>A (p.Glu367=)
|
rs377345899
|
0.00001
|
|
NM_000108.5(DLD):c.1161T>C (p.Asn387=)
|
rs1232556757
|
0.00001
|
|
NM_000108.5(DLD):c.116C>T (p.Pro39Leu)
|
rs766396602
|
0.00001
|
|
NM_000108.5(DLD):c.117G>A (p.Pro39=)
|
rs751621846
|
0.00001
|
|
NM_000108.5(DLD):c.1182C>T (p.Tyr394=)
|
rs757087726
|
0.00001
|
|
NM_000108.5(DLD):c.119-5C>T
|
rs377653882
|
0.00001
|
|
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln)
|
rs886061907
|
0.00001
|
|
NM_000108.5(DLD):c.1236+9G>A
|
rs780911500
|
0.00001
|
|
NM_000108.5(DLD):c.1266A>G (p.Pro422=)
|
rs766756785
|
0.00001
|
|
NM_000108.5(DLD):c.1275T>C (p.Ala425=)
|
rs751879528
|
0.00001
|
|
NM_000108.5(DLD):c.1333A>G (p.Lys445Glu)
|
rs1406495040
|
0.00001
|
|
NM_000108.5(DLD):c.1443T>G (p.Ala481=)
|
rs775957704
|
0.00001
|
|
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)
|
rs121964988
|
0.00001
|
|
NM_000108.5(DLD):c.1467C>A (p.Thr489=)
|
rs1381413555
|
0.00001
|
|
NM_000108.5(DLD):c.1500T>C (p.Ala500=)
|
rs773097788
|
0.00001
|
|
NM_000108.5(DLD):c.199-4G>T
|
rs763348101
|
0.00001
|
|
NM_000108.5(DLD):c.199-7G>T
|
rs1358100638
|
0.00001
|
|
NM_000108.5(DLD):c.204C>G (p.Val68=)
|
rs553951105
|
0.00001
|
|
NM_000108.5(DLD):c.209T>C (p.Ile70Thr)
|
rs373761188
|
0.00001
|
|
NM_000108.5(DLD):c.236C>T (p.Thr79Ile)
|
rs1064795549
|
0.00001
|
|
NM_000108.5(DLD):c.24C>T (p.Tyr8=)
|
rs778122189
|
0.00001
|
|
NM_000108.5(DLD):c.268-19T>C
|
rs373587265
|
0.00001
|
|
NM_000108.5(DLD):c.268-7C>T
|
rs1584463325
|
0.00001
|
|
NM_000108.5(DLD):c.375G>A (p.Glu125=)
|
rs559057715
|
0.00001
|
|
NM_000108.5(DLD):c.387T>A (p.Thr129=)
|
rs748122031
|
0.00001
|
|
NM_000108.5(DLD):c.39+11A>C
|
rs2031564900
|
0.00001
|
|
NM_000108.5(DLD):c.393A>G (p.Val131=)
|
rs773013949
|
0.00001
|
|
NM_000108.5(DLD):c.417C>G (p.Ala139=)
|
rs759291025
|
0.00001
|
|
NM_000108.5(DLD):c.419A>G (p.His140Arg)
|
rs767210810
|
0.00001
|
|
NM_000108.5(DLD):c.504T>C (p.Asp168=)
|
rs1291877622
|
0.00001
|
|
NM_000108.5(DLD):c.540T>C (p.Leu180=)
|
rs369876154
|
0.00001
|
|
NM_000108.5(DLD):c.57A>T (p.Arg19=)
|
rs754899464
|
0.00001
|
|
NM_000108.5(DLD):c.606A>T (p.Ser202=)
|
rs1362069416
|
0.00001
|
|
NM_000108.5(DLD):c.65A>G (p.His22Arg)
|
rs914629774
|
0.00001
|
|
NM_000108.5(DLD):c.669A>C (p.Val223=)
|
rs764478905
|
0.00001
|
|
NM_000108.5(DLD):c.684+1G>T
|
rs780025714
|
0.00001
|
|
NM_000108.5(DLD):c.684+9T>A
|
rs1160897223
|
0.00001
|
|
NM_000108.5(DLD):c.741T>C (p.His247=)
|
rs781000040
|
0.00001
|
|
NM_000108.5(DLD):c.803_804del (p.Gln268fs)
|
rs764611160
|
0.00001
|
|
NM_000108.5(DLD):c.875+1G>A
|
rs1328820332
|
0.00001
|
|
NM_000108.5(DLD):c.96G>C (p.Leu32=)
|
rs765623212
|
0.00001
|
|
NC_000007.13:g.(?_107531696)_(107533743_?)del
|
|
|
|
NC_000007.13:g.(?_107542163)_(107559704_?)del
|
|
|
|
NC_000007.13:g.(?_107556049)_(107558012_?)del
|
|
|
|
NC_000007.14:g.(?_107901728)_(107906378_?)del
|
|
|
|
NM_000108.5(DLD):c.*1027T>G
|
rs372098056
|
|
|
NM_000108.5(DLD):c.*1088A>G
|
rs886061912
|
|
|
NM_000108.5(DLD):c.*1231A>G
|
rs2032385167
|
|
|
NM_000108.5(DLD):c.*167T>C
|
rs886061909
|
|
|
NM_000108.5(DLD):c.*374G>T
|
rs576270082
|
|
|
NM_000108.5(DLD):c.*470G>A
|
rs111619940
|
|
|
NM_000108.5(DLD):c.*470G>T
|
rs111619940
|
|
|
NM_000108.5(DLD):c.*498T>G
|
rs886061911
|
|
|
NM_000108.5(DLD):c.*898C>T
|
rs2032373871
|
|
|
NM_000108.5(DLD):c.*947G>T
|
rs7777259
|
|
|
NM_000108.5(DLD):c.-10C>T
|
rs1269120569
|
|
|
NM_000108.5(DLD):c.1005T>C (p.Gly335=)
|
rs763878786
|
|
|
NM_000108.5(DLD):c.1006A>G (p.Arg336Gly)
|
rs776547214
|
|
|
NM_000108.5(DLD):c.1011T>C (p.Ile337=)
|
rs761507009
|
|
|
NM_000108.5(DLD):c.1014A>G (p.Pro338=)
|
rs764979410
|
|
|
NM_000108.5(DLD):c.1016del (p.Val339fs)
|
|
|
|
NM_000108.5(DLD):c.1023C>A (p.Thr341=)
|
rs2116270465
|
|
|
NM_000108.5(DLD):c.1023C>T (p.Thr341=)
|
rs2116270465
|
|
|
NM_000108.5(DLD):c.1035T>C (p.Thr345=)
|
|
|
|
NM_000108.5(DLD):c.1036A>T (p.Lys346Ter)
|
|
|
|
NM_000108.5(DLD):c.1044A>C (p.Pro348=)
|
rs1241426016
|
|
|
NM_000108.5(DLD):c.1046+16G>A
|
|
|
|
NM_000108.5(DLD):c.1046+16G>T
|
|
|
|
NM_000108.5(DLD):c.1046+1G>T
|
|
|
|
NM_000108.5(DLD):c.1047-13A>T
|
|
|
|
NM_000108.5(DLD):c.1047-13_1047-5del
|
rs1462836154
|
|
|
NM_000108.5(DLD):c.1047-19C>A
|
|
|
|
NM_000108.5(DLD):c.1047-1G>A
|
|
|
|
NM_000108.5(DLD):c.1047-2A>G
|
|
|
|
NM_000108.5(DLD):c.1047-4G>T
|
rs2116271429
|
|
|
NM_000108.5(DLD):c.1047-7G>A
|
|
|
|
NM_000108.5(DLD):c.1047-7G>T
|
|
|
|
NM_000108.5(DLD):c.1047-7_1047-4del
|
rs2116271424
|
|
|
NM_000108.5(DLD):c.104del (p.Tyr35fs)
|
|
|
|
NM_000108.5(DLD):c.1052A>G (p.Tyr351Cys)
|
|
|
|
NM_000108.5(DLD):c.1053T>C (p.Tyr351=)
|
rs2116271455
|
|
|
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)
|
rs2116271469
|
|
|
NM_000108.5(DLD):c.105C>A (p.Tyr35Ter)
|
|
|
|
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)
|
rs747810875
|
|
|
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer)
|
rs1554396895
|
|
|
NM_000108.5(DLD):c.1065T>G (p.Asp355Glu)
|
|
|
|
NM_000108.5(DLD):c.1074T>C (p.Ala358=)
|
|
|
|
NM_000108.5(DLD):c.1080_1086dup (p.Ala363fs)
|
|
|
|
NM_000108.5(DLD):c.108A>G (p.Ala36=)
|
|
|
|
NM_000108.5(DLD):c.108A>T (p.Ala36=)
|
|
|
|
NM_000108.5(DLD):c.1095A>G (p.Lys365=)
|
|
|
|
NM_000108.5(DLD):c.1105G>T (p.Glu369Ter)
|
rs2032293119
|
|
|
NM_000108.5(DLD):c.1109_1112dup (p.Ile371fs)
|
|
|
|
NM_000108.5(DLD):c.1113T>C (p.Ile371=)
|
rs773097241
|
|
|
NM_000108.5(DLD):c.1116C>A (p.Ile372=)
|
rs2116271616
|
|
|
NM_000108.5(DLD):c.1116_1117del (p.Ile372fs)
|
|
|
|
NM_000108.5(DLD):c.1119T>A (p.Cys373Ter)
|
rs2032293586
|
|
|
NM_000108.5(DLD):c.112C>T (p.Gln38Ter)
|
rs1057516698
|
|
|
NM_000108.5(DLD):c.1139del (p.Gly380fs)
|
|
|
|
NM_000108.5(DLD):c.1141dup (p.Ala381fs)
|
|
|
|
NM_000108.5(DLD):c.1148A>G (p.His383Arg)
|
|
|
|
NM_000108.5(DLD):c.1158C>G (p.Tyr386Ter)
|
|
|
|
NM_000108.5(DLD):c.1158C>T (p.Tyr386=)
|
|
|
|
NM_000108.5(DLD):c.1173A>G (p.Ser391=)
|
|
|
|
NM_000108.5(DLD):c.1178T>C (p.Ile393Thr)
|
rs121964991
|
|
|
NM_000108.5(DLD):c.1179T>C (p.Ile393=)
|
|
|
|
NM_000108.5(DLD):c.118+10T>G
|
rs1436028319
|
|
|
NM_000108.5(DLD):c.118+11A>G
|
|
|
|
NM_000108.5(DLD):c.118+12A>G
|
|
|
|
NM_000108.5(DLD):c.118+13G>A
|
|
|
|
NM_000108.5(DLD):c.118+18A>G
|
|
|
|
NM_000108.5(DLD):c.118+19C>G
|
|
|
|
NM_000108.5(DLD):c.118+19C>T
|
|
|
|
NM_000108.5(DLD):c.118+1G>T
|
rs1554396908
|
|
|
NM_000108.5(DLD):c.1182C>G (p.Tyr394Ter)
|
rs757087726
|
|
|
NM_000108.5(DLD):c.1185dup (p.His396fs)
|
|
|
|
NM_000108.5(DLD):c.1187_1188del (p.His396fs)
|
|
|
|
NM_000108.5(DLD):c.119-16T>C
|
|
|
|
NM_000108.5(DLD):c.119-18A>T
|
|
|
|
NM_000108.5(DLD):c.119-1G>A
|
rs2116206966
|
|
|
NM_000108.5(DLD):c.119-1G>T
|
|
|
|
NM_000108.5(DLD):c.119-7A>G
|
rs2116206903
|
|
|
NM_000108.5(DLD):c.119-9T>C
|
|
|
|
NM_000108.5(DLD):c.1191T>C (p.Pro397=)
|
rs2116272074
|
|
|
NM_000108.5(DLD):c.1212A>C (p.Lys404Asn)
|
|
|
|
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
|
|
|
|
NM_000108.5(DLD):c.1214C>G (p.Ser405Ter)
|
|
|
|
NM_000108.5(DLD):c.1215A>G (p.Ser405=)
|
|
|
|
NM_000108.5(DLD):c.1218A>C (p.Glu406Asp)
|
|
|
|
NM_000108.5(DLD):c.1219G>T (p.Glu407Ter)
|
|
|
|
NM_000108.5(DLD):c.1221G>A (p.Glu407=)
|
|
|
|
NM_000108.5(DLD):c.1232_1233del (p.Glu411fs)
|
|
|
|
NM_000108.5(DLD):c.1233A>G (p.Glu411=)
|
|
|
|
NM_000108.5(DLD):c.1233dup (p.Glu412fs)
|
|
|
|
NM_000108.5(DLD):c.1236+13A>T
|
|
|
|
NM_000108.5(DLD):c.1236+16G>A
|
rs2116272359
|
|
|
NM_000108.5(DLD):c.1236+16G>T
|
|
|
|
NM_000108.5(DLD):c.1236+19_1236+20insAAAA
|
|
|
|
NM_000108.5(DLD):c.1236+1G>T
|
rs1554400483
|
|
|
NM_000108.5(DLD):c.1236+5G>A
|
|
|
|
NM_000108.5(DLD):c.1236+7C>A
|
|
|
|
NM_000108.5(DLD):c.1237-13C>G
|
|
|
|
NM_000108.5(DLD):c.1237-15_1237-14del
|
|
|
|
NM_000108.5(DLD):c.1237-17T>C
|
|
|
|
NM_000108.5(DLD):c.1237-2A>G
|
|
|
|
NM_000108.5(DLD):c.1237-5C>T
|
|
|
|
NM_000108.5(DLD):c.1237-7G>A
|
rs765771763
|
|
|
NM_000108.5(DLD):c.1237-7G>C
|
|
|
|
NM_000108.5(DLD):c.1245G>A (p.Glu415=)
|
|
|
|
NM_000108.5(DLD):c.1245_1249del (p.Tyr416fs)
|
rs2116273912
|
|
|
NM_000108.5(DLD):c.1248C>T (p.Tyr416=)
|
rs773685921
|
|
|
NM_000108.5(DLD):c.1254T>A (p.Val418=)
|
rs763401114
|
|
|
NM_000108.5(DLD):c.1254T>C (p.Val418=)
|
rs763401114
|
|
|
NM_000108.5(DLD):c.1272T>C (p.Ala424=)
|
rs1005430908
|
|
|
NM_000108.5(DLD):c.1296T>C (p.Asn432=)
|
rs2116274251
|
|
|
NM_000108.5(DLD):c.12G>A (p.Trp4Ter)
|
rs1562908173
|
|
|
NM_000108.5(DLD):c.1302C>T (p.Asp434=)
|
|
|
|
NM_000108.5(DLD):c.1310G>A (p.Gly437Asp)
|
|
|
|
NM_000108.5(DLD):c.1313T>C (p.Met438Thr)
|
rs2032312825
|
|
|
NM_000108.5(DLD):c.1318A>T (p.Lys440Ter)
|
|
|
|
NM_000108.5(DLD):c.1320G>A (p.Lys440=)
|
rs2116274362
|
|
|
NM_000108.5(DLD):c.1323C>T (p.Ile441=)
|
|
|
|
NM_000108.5(DLD):c.1337C>T (p.Ser446Leu)
|
|
|
|
NM_000108.5(DLD):c.1338G>A (p.Ser446=)
|
rs1323254312
|
|
|
NM_000108.5(DLD):c.1343A>G (p.Asp448Gly)
|
|
|
|
NM_000108.5(DLD):c.1344C>T (p.Asp448=)
|
|
|
|
NM_000108.5(DLD):c.1344_1347del (p.Asp448fs)
|
rs1402761530
|
|
|
NM_000108.5(DLD):c.1353G>A (p.Leu451=)
|
|
|
|
NM_000108.5(DLD):c.1357G>A (p.Ala453Thr)
|
|
|
|
NM_000108.5(DLD):c.1359A>G (p.Ala453=)
|
rs1291150689
|
|
|
NM_000108.5(DLD):c.1375-17G>T
|
|
|
|
NM_000108.5(DLD):c.1377T>A (p.Gly459=)
|
rs2032340474
|
|
|
NM_000108.5(DLD):c.1396G>T (p.Glu466Ter)
|
rs2116277809
|
|
|
NM_000108.5(DLD):c.13A>G (p.Ser5Gly)
|
|
|
|
NM_000108.5(DLD):c.140T>C (p.Ile47Thr)
|
rs397514651
|
|
|
NM_000108.5(DLD):c.140T>G (p.Ile47Arg)
|
|
|
|
NM_000108.5(DLD):c.1416A>G (p.Glu472=)
|
|
|
|
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs)
|
rs1214130226
|
|
|
NM_000108.5(DLD):c.1421del (p.Gly474fs)
|
rs1554400699
|
|
|
NM_000108.5(DLD):c.1422A>G (p.Gly474=)
|
|
|
|
NM_000108.5(DLD):c.1428C>T (p.Ser476=)
|
rs2032344125
|
|
|
NM_000108.5(DLD):c.1429_1432del (p.Cys477fs)
|
rs1554400704
|
|
|
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)
|
rs397514649
|
|
|
NM_000108.5(DLD):c.1437T>C (p.Asp479=)
|
|
|
|
NM_000108.5(DLD):c.1444A>G (p.Arg482Gly)
|
rs397514650
|
|
|
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs)
|
rs1554400713
|
|
|
NM_000108.5(DLD):c.144T>C (p.Gly48=)
|
rs2116207135
|
|
|
NM_000108.5(DLD):c.1463del (p.Pro488fs)
|
rs1554400720
|
|
|
NM_000108.5(DLD):c.1464+16A>G
|
|
|
|
NM_000108.5(DLD):c.1464+17T>C
|
rs2116278286
|
|
|
NM_000108.5(DLD):c.1464+19T>C
|
|
|
|
NM_000108.5(DLD):c.1464+1G>A
|
|
|
|
NM_000108.5(DLD):c.1464G>A (p.Pro488=)
|
|
|
|
NM_000108.5(DLD):c.1465-12C>T
|
|
|
|
NM_000108.5(DLD):c.1465-16A>T
|
|
|
|
NM_000108.5(DLD):c.1465-7C>G
|
rs886061908
|
|
|
NM_000108.5(DLD):c.1465-9C>T
|
rs2032348186
|
|
|
NM_000108.5(DLD):c.1471T>C (p.Ser491Pro)
|
rs2032348536
|
|
|
NM_000108.5(DLD):c.1482T>C (p.Phe494=)
|
rs2032348683
|
|
|
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly)
|
rs121964989
|
|
|
NM_000108.5(DLD):c.1502C>T (p.Ala501Val)
|
|
|
|
NM_000108.5(DLD):c.1506A>G (p.Ser502=)
|
rs941059131
|
|
|
NM_000108.5(DLD):c.1515A>G (p.Lys505=)
|
|
|
|
NM_000108.5(DLD):c.1517C>T (p.Ser506Leu)
|
|
|
|
NM_000108.5(DLD):c.1520_1523del (p.Ile507fs)
|
rs777884525
|
|
|
NM_000108.5(DLD):c.1527T>C (p.Phe509=)
|
|
|
|
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg)
|
rs1554400769
|
|
|
NM_000108.5(DLD):c.156A>G (p.Gly52=)
|
|
|
|
NM_000108.5(DLD):c.159A>G (p.Gly53=)
|
|
|
|
NM_000108.5(DLD):c.161A>T (p.Tyr54Phe)
|
|
|
|
NM_000108.5(DLD):c.163G>A (p.Val55Ile)
|
rs2116207217
|
|
|
NM_000108.5(DLD):c.168T>C (p.Ala56=)
|
rs2116207243
|
|
|
NM_000108.5(DLD):c.175A>T (p.Lys59Ter)
|
|
|
|
NM_000108.5(DLD):c.180T>G (p.Ala60=)
|
rs2116207327
|
|
|
NM_000108.5(DLD):c.183C>G (p.Ala61=)
|
rs2031882834
|
|
|
NM_000108.5(DLD):c.183C>T (p.Ala61=)
|
rs2031882834
|
|
|
NM_000108.5(DLD):c.184C>T (p.Gln62Ter)
|
|
|
|
NM_000108.5(DLD):c.189A>G (p.Leu63=)
|
|
|
|
NM_000108.5(DLD):c.18T>C (p.Arg6=)
|
rs2116150112
|
|
|
NM_000108.5(DLD):c.191G>C (p.Gly64Ala)
|
rs2031883055
|
|
|
NM_000108.5(DLD):c.192C>A (p.Gly64=)
|
rs1222766486
|
|
|
NM_000108.5(DLD):c.194T>A (p.Phe65Tyr)
|
|
|
|
NM_000108.5(DLD):c.198+10G>C
|
rs777566045
|
|
|
NM_000108.5(DLD):c.198+1G>A
|
rs1554398193
|
|
|
NM_000108.5(DLD):c.198+1G>T
|
|
|
|
NM_000108.5(DLD):c.199-10T>C
|
rs2116209763
|
|
|
NM_000108.5(DLD):c.199-1G>A
|
rs1554398264
|
|
|
NM_000108.5(DLD):c.199-4G>A
|
|
|
|
NM_000108.5(DLD):c.199-6T>C
|
rs1584462430
|
|
|
NM_000108.5(DLD):c.19dup (p.Val7fs)
|
|
|
|
NM_000108.5(DLD):c.1A>C (p.Met1Leu)
|
|
|
|
NM_000108.5(DLD):c.204C>T (p.Val68=)
|
rs553951105
|
|
|
NM_000108.5(DLD):c.214A>G (p.Lys72Glu)
|
rs121964987
|
|
|
NM_000108.5(DLD):c.217A>C (p.Asn73His)
|
rs796051949
|
|
|
NM_000108.5(DLD):c.223dup (p.Thr75fs)
|
rs1057517214
|
|
|
NM_000108.5(DLD):c.225_226del (p.Leu76fs)
|
|
|
|
NM_000108.5(DLD):c.228T>C (p.Leu76=)
|
|
|
|
NM_000108.5(DLD):c.231T>C (p.Gly77=)
|
|
|
|
NM_000108.5(DLD):c.237A>G (p.Thr79=)
|
|
|
|
NM_000108.5(DLD):c.24C>G (p.Tyr8Ter)
|
rs778122189
|
|
|
NM_000108.5(DLD):c.259C>T (p.Pro87Ser)
|
|
|
|
NM_000108.5(DLD):c.267+12T>C
|
|
|
|
NM_000108.5(DLD):c.267+15del
|
rs886061906
|
|
|
NM_000108.5(DLD):c.267+8T>A
|
|
|
|
NM_000108.5(DLD):c.267+9G>C
|
rs188936529
|
|
|
NM_000108.5(DLD):c.268-15T>C
|
|
|
|
NM_000108.5(DLD):c.268-1G>A
|
|
|
|
NM_000108.5(DLD):c.268-20A>T
|
|
|
|
NM_000108.5(DLD):c.268-2A>G
|
rs1554398461
|
|
|
NM_000108.5(DLD):c.268-3T>A
|
rs2031928500
|
|
|
NM_000108.5(DLD):c.268-6C>T
|
|
|
|
NM_000108.5(DLD):c.273A>G (p.Leu91=)
|
|
|
|
NM_000108.5(DLD):c.27C>T (p.Cys9=)
|
|
|
|
NM_000108.5(DLD):c.285T>C (p.Ser95=)
|
rs761564212
|
|
|
NM_000108.5(DLD):c.285_286del (p.His96fs)
|
|
|
|
NM_000108.5(DLD):c.297T>C (p.His99=)
|
|
|
|
NM_000108.5(DLD):c.29C>T (p.Ser10Phe)
|
|
|
|
NM_000108.5(DLD):c.305A>T (p.His102Leu)
|
rs893865374
|
|
|
NM_000108.5(DLD):c.306T>C (p.His102=)
|
|
|
|
NM_000108.5(DLD):c.308_310delinsT (p.Gly103fs)
|
rs2031929480
|
|
|
NM_000108.5(DLD):c.30C>A (p.Ser10=)
|
rs779166996
|
|
|
NM_000108.5(DLD):c.30C>T (p.Ser10=)
|
rs779166996
|
|
|
NM_000108.5(DLD):c.325A>T (p.Arg109Ter)
|
rs2031930307
|
|
|
NM_000108.5(DLD):c.337+10C>T
|
rs752671238
|
|
|
NM_000108.5(DLD):c.337+16A>G
|
|
|
|
NM_000108.5(DLD):c.337+17T>C
|
|
|
|
NM_000108.5(DLD):c.337+19C>T
|
rs751168608
|
|
|
NM_000108.5(DLD):c.337+1G>T
|
|
|
|
NM_000108.5(DLD):c.337+4_337+7del
|
|
|
|
NM_000108.5(DLD):c.338-18del
|
|
|
|
NM_000108.5(DLD):c.338-1G>A
|
|
|
|
NM_000108.5(DLD):c.338-2A>G
|
|
|
|
NM_000108.5(DLD):c.338-2_338-1delinsT
|
rs1554398624
|
|
|
NM_000108.5(DLD):c.338-4A>C
|
rs2116219347
|
|
|
NM_000108.5(DLD):c.340T>G (p.Ser114Ala)
|
|
|
|
NM_000108.5(DLD):c.345del (p.Val116fs)
|
rs1554398625
|
|
|
NM_000108.5(DLD):c.351C>A (p.Arg117=)
|
rs374988228
|
|
|
NM_000108.5(DLD):c.351C>G (p.Arg117=)
|
rs374988228
|
|
|
NM_000108.5(DLD):c.351C>T (p.Arg117=)
|
rs374988228
|
|
|
NM_000108.5(DLD):c.361G>A (p.Asp121Asn)
|
rs780305161
|
|
|
NM_000108.5(DLD):c.362del (p.Asp121fs)
|
rs2116219533
|
|
|
NM_000108.5(DLD):c.367A>G (p.Met123Val)
|
rs111352707
|
|
|
NM_000108.5(DLD):c.380del (p.Lys127fs)
|
|
|
|
NM_000108.5(DLD):c.383delinsTA (p.Ser128fs)
|
|
|
|
NM_000108.5(DLD):c.39+10G>A
|
|
|
|
NM_000108.5(DLD):c.39+10G>C
|
|
|
|
NM_000108.5(DLD):c.39+12G>A
|
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|
|
NM_000108.5(DLD):c.39+14A>G
|
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|
|
NM_000108.5(DLD):c.39+14A>T
|
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|
|
NM_000108.5(DLD):c.39+1G>A
|
rs111257462
|
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NM_000108.5(DLD):c.39+20G>C
|
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NM_000108.5(DLD):c.39+3G>C
|
rs2031564629
|
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NM_000108.5(DLD):c.39+7G>A
|
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|
NM_000108.5(DLD):c.3G>A (p.Met1Ile)
|
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|
NM_000108.5(DLD):c.40-10C>G
|
rs2116162378
|
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NM_000108.5(DLD):c.40-17A>G
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NM_000108.5(DLD):c.40-18G>A
|
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NM_000108.5(DLD):c.40-20G>A
|
rs2031631950
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NM_000108.5(DLD):c.40-2A>G
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NM_000108.5(DLD):c.40-3T>A
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|
NM_000108.5(DLD):c.40-3T>C
|
rs2116162419
|
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NM_000108.5(DLD):c.40-4del
|
rs2116162407
|
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NM_000108.5(DLD):c.40-5del
|
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|
NM_000108.5(DLD):c.421T>C (p.Leu141=)
|
rs2116219899
|
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NM_000108.5(DLD):c.438+12A>C
|
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NM_000108.5(DLD):c.438+15T>C
|
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NM_000108.5(DLD):c.438+15T>G
|
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NM_000108.5(DLD):c.438+16T>G
|
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NM_000108.5(DLD):c.438+7G>A
|
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NM_000108.5(DLD):c.439-1G>C
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NM_000108.5(DLD):c.439-2A>G
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NM_000108.5(DLD):c.439-4A>G
|
rs1270309743
|
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NM_000108.5(DLD):c.439-6G>C
|
rs369208046
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NM_000108.5(DLD):c.439-7_439-6inv
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NM_000108.5(DLD):c.439-7del
|
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NM_000108.5(DLD):c.444T>G (p.Val148=)
|
rs2116221274
|
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NM_000108.5(DLD):c.450C>A (p.Val150=)
|
rs2116221334
|
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NM_000108.5(DLD):c.453T>C (p.Asn151=)
|
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|
NM_000108.5(DLD):c.459T>G (p.Tyr153Ter)
|
rs2116221384
|
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|
NM_000108.5(DLD):c.462A>G (p.Gly154=)
|
rs2116221430
|
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NM_000108.5(DLD):c.474C>A (p.Gly158=)
|
rs2116221541
|
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NM_000108.5(DLD):c.474C>T (p.Gly158=)
|
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|
NM_000108.5(DLD):c.486C>A (p.Val162=)
|
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NM_000108.5(DLD):c.489T>G (p.Thr163=)
|
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NM_000108.5(DLD):c.48T>C (p.His16=)
|
rs2031632982
|
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NM_000108.5(DLD):c.491_492insGTATAAGAGACAG (p.Thr165fs)
|
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|
|
NM_000108.5(DLD):c.499G>A (p.Ala167Thr)
|
rs2116221690
|
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|
NM_000108.5(DLD):c.507C>A (p.Gly169=)
|
rs144351432
|
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|
NM_000108.5(DLD):c.511A>C (p.Thr171Pro)
|
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|
NM_000108.5(DLD):c.513T>A (p.Thr171=)
|
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|
NM_000108.5(DLD):c.516G>A (p.Gln172=)
|
rs777748761
|
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|
NM_000108.5(DLD):c.520A>G (p.Ile174Val)
|
rs2031981415
|
|
|
NM_000108.5(DLD):c.529A>T (p.Lys177Ter)
|
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|
NM_000108.5(DLD):c.53A>G (p.Asn18Ser)
|
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|
NM_000108.5(DLD):c.542T>C (p.Ile181Thr)
|
rs1291809324
|
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|
NM_000108.5(DLD):c.552T>C (p.Gly184=)
|
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|
NM_000108.5(DLD):c.573del (p.Gly192fs)
|
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|
NM_000108.5(DLD):c.581C>T (p.Thr194Met)
|
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|
NM_000108.5(DLD):c.582+11T>G
|
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|
NM_000108.5(DLD):c.582+13C>A
|
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NM_000108.5(DLD):c.582+16A>G
|
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|
NM_000108.5(DLD):c.582+16_582+17insC
|
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|
NM_000108.5(DLD):c.582+18T>C
|
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|
NM_000108.5(DLD):c.582+18T>G
|
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|
|
NM_000108.5(DLD):c.582+19T>G
|
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|
|
NM_000108.5(DLD):c.582+2T>C
|
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|
NM_000108.5(DLD):c.582+7A>G
|
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|
NM_000108.5(DLD):c.582+7A>T
|
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|
NM_000108.5(DLD):c.583-15_583-14del
|
|
|
|
NM_000108.5(DLD):c.583-1G>C
|
rs2032004082
|
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|
NM_000108.5(DLD):c.583-8T>A
|
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|
NM_000108.5(DLD):c.585A>T (p.Ile195=)
|
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|
NM_000108.5(DLD):c.589G>T (p.Glu197Ter)
|
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|
|
NM_000108.5(DLD):c.58A>G (p.Ile20Val)
|
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|
|
NM_000108.5(DLD):c.595dup (p.Thr199fs)
|
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|
|
NM_000108.5(DLD):c.596C>A (p.Thr199Lys)
|
rs1336962180
|
|
|
NM_000108.5(DLD):c.597A>G (p.Thr199=)
|
rs768248572
|
|
|
NM_000108.5(DLD):c.615T>A (p.Gly205=)
|
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|
|
NM_000108.5(DLD):c.627A>G (p.Leu209=)
|
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|
|
NM_000108.5(DLD):c.630A>G (p.Lys210=)
|
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|
|
NM_000108.5(DLD):c.632_633del (p.Lys211fs)
|
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|
|
NM_000108.5(DLD):c.633del (p.Val212fs)
|
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|
|
NM_000108.5(DLD):c.633dup (p.Val212fs)
|
rs1040811473
|
|
|
NM_000108.5(DLD):c.636T>A (p.Val212=)
|
rs2116225767
|
|
|
NM_000108.5(DLD):c.647del (p.Met216fs)
|
|
|
|
NM_000108.5(DLD):c.654T>C (p.Val218=)
|
rs1584465590
|
|
|
NM_000108.5(DLD):c.656T>C (p.Ile219Thr)
|
rs2032006962
|
|
|
NM_000108.5(DLD):c.660T>C (p.Gly220=)
|
rs2116225941
|
|
|
NM_000108.5(DLD):c.663A>G (p.Ala221=)
|
|
|
|
NM_000108.5(DLD):c.666A>G (p.Gly222=)
|
rs2116225961
|
|
|
NM_000108.5(DLD):c.66T>C (p.His22=)
|
rs2116162670
|
|
|
NM_000108.5(DLD):c.675_676inv (p.Val226Ile)
|
|
|
|
NM_000108.5(DLD):c.684+11T>A
|
|
|
|
NM_000108.5(DLD):c.684+20C>T
|
|
|
|
NM_000108.5(DLD):c.685-14T>C
|
|
|
|
NM_000108.5(DLD):c.685-14del
|
rs759170630
|
|
|
NM_000108.5(DLD):c.685-17_685-14del
|
|
|
|
NM_000108.5(DLD):c.685-18T>G
|
|
|
|
NM_000108.5(DLD):c.685-19T>C
|
|
|
|
NM_000108.5(DLD):c.685-20T>C
|
|
|
|
NM_000108.5(DLD):c.685-4G>A
|
rs1584471861
|
|
|
NM_000108.5(DLD):c.685-4G>T
|
rs1584471861
|
|
|
NM_000108.5(DLD):c.685-8_685-5del
|
rs2032245429
|
|
|
NM_000108.5(DLD):c.685-9_685-5del
|
|
|
|
NM_000108.5(DLD):c.699A>G (p.Gln233=)
|
rs1418720698
|
|
|
NM_000108.5(DLD):c.69C>T (p.Gly23=)
|
|
|
|
NM_000108.5(DLD):c.6G>A (p.Gln2=)
|
rs559880901
|
|
|
NM_000108.5(DLD):c.6G>C (p.Gln2His)
|
|
|
|
NM_000108.5(DLD):c.700A>C (p.Arg234=)
|
|
|
|
NM_000108.5(DLD):c.70C>T (p.Leu24=)
|
rs369442554
|
|
|
NM_000108.5(DLD):c.720A>G (p.Thr240=)
|
|
|
|
NM_000108.5(DLD):c.723A>G (p.Ala241=)
|
rs751488296
|
|
|
NM_000108.5(DLD):c.729A>G (p.Glu243=)
|
rs2032247071
|
|
|
NM_000108.5(DLD):c.72A>G (p.Leu24=)
|
rs769445579
|
|
|
NM_000108.5(DLD):c.737del (p.Gly246fs)
|
|
|
|
NM_000108.5(DLD):c.744A>G (p.Val248=)
|
|
|
|
NM_000108.5(DLD):c.748G>T (p.Gly250Ter)
|
rs2032247686
|
|
|
NM_000108.5(DLD):c.765G>A (p.Met255Ile)
|
|
|
|
NM_000108.5(DLD):c.783del (p.Gln262fs)
|
rs1562919685
|
|
|
NM_000108.5(DLD):c.787C>T (p.Arg263Cys)
|
|
|
|
NM_000108.5(DLD):c.789C>T (p.Arg263=)
|
|
|
|
NM_000108.5(DLD):c.796C>T (p.Gln266Ter)
|
|
|
|
NM_000108.5(DLD):c.79C>T (p.Leu27Phe)
|
rs2116162795
|
|
|
NM_000108.5(DLD):c.801del (p.Lys267fs)
|
|
|
|
NM_000108.5(DLD):c.802C>T (p.Gln268Ter)
|
rs2032249629
|
|
|
NM_000108.5(DLD):c.803A>G (p.Gln268Arg)
|
|
|
|
NM_000108.5(DLD):c.807G>A (p.Gly269=)
|
|
|
|
NM_000108.5(DLD):c.813del (p.Lys271fs)
|
|
|
|
NM_000108.5(DLD):c.821dup (p.Leu274fs)
|
rs751883130
|
|
|
NM_000108.5(DLD):c.828A>G (p.Thr276=)
|
rs2032250540
|
|
|
NM_000108.5(DLD):c.829A>T (p.Lys277Ter)
|
|
|
|
NM_000108.5(DLD):c.82del (p.Ser28fs)
|
rs764704217
|
|
|
NM_000108.5(DLD):c.82dup (p.Ser28fs)
|
|
|
|
NM_000108.5(DLD):c.831G>T (p.Lys277Asn)
|
|
|
|
NM_000108.5(DLD):c.834T>C (p.Val278=)
|
rs1258445963
|
|
|
NM_000108.5(DLD):c.840T>A (p.Gly280=)
|
rs2116264411
|
|
|
NM_000108.5(DLD):c.84T>A (p.Ser28=)
|
|
|
|
NM_000108.5(DLD):c.84T>C (p.Ser28=)
|
|
|
|
NM_000108.5(DLD):c.854C>G (p.Ser285Ter)
|
|
|
|
NM_000108.5(DLD):c.856_857del (p.Asp286fs)
|
|
|
|
NM_000108.5(DLD):c.857A>G (p.Asp286Gly)
|
rs192349677
|
|
|
NM_000108.5(DLD):c.865dup (p.Ile289fs)
|
rs1554400179
|
|
|
NM_000108.5(DLD):c.866T>C (p.Ile289Thr)
|
rs2116264648
|
|
|
NM_000108.5(DLD):c.870T>C (p.Asp290=)
|
|
|
|
NM_000108.5(DLD):c.873T>C (p.Val291=)
|
|
|
|
NM_000108.5(DLD):c.875+11A>G
|
|
|
|
NM_000108.5(DLD):c.875+13C>A
|
|
|
|
NM_000108.5(DLD):c.875+14A>G
|
|
|
|
NM_000108.5(DLD):c.875+1G>T
|
rs1328820332
|
|
|
NM_000108.5(DLD):c.875+20T>C
|
|
|
|
NM_000108.5(DLD):c.875+9A>G
|
|
|
|
NM_000108.5(DLD):c.876-14T>C
|
|
|
|
NM_000108.5(DLD):c.876-19T>C
|
|
|
|
NM_000108.5(DLD):c.876-5T>A
|
|
|
|
NM_000108.5(DLD):c.876-6A>C
|
|
|
|
NM_000108.5(DLD):c.876-6A>G
|
rs199944006
|
|
|
NM_000108.5(DLD):c.879T>C (p.Ile293=)
|
rs2116269476
|
|
|
NM_000108.5(DLD):c.884C>T (p.Ala295Val)
|
|
|
|
NM_000108.5(DLD):c.888T>C (p.Ala296=)
|
rs2032281375
|
|
|
NM_000108.5(DLD):c.897T>C (p.Gly299=)
|
rs2116269619
|
|
|
NM_000108.5(DLD):c.898A>T (p.Lys300Ter)
|
|
|
|
NM_000108.5(DLD):c.901G>C (p.Ala301Pro)
|
|
|
|
NM_000108.5(DLD):c.904G>T (p.Glu302Ter)
|
rs2032281944
|
|
|
NM_000108.5(DLD):c.906A>G (p.Glu302=)
|
rs2116269710
|
|
|
NM_000108.5(DLD):c.911T>C (p.Ile304Thr)
|
|
|
|
NM_000108.5(DLD):c.918T>C (p.Cys306=)
|
rs1433041129
|
|
|
NM_000108.5(DLD):c.919G>A (p.Asp307Asn)
|
rs2032282601
|
|
|
NM_000108.5(DLD):c.924A>C (p.Val308=)
|
|
|
|
NM_000108.5(DLD):c.924A>G (p.Val308=)
|
|
|
|
NM_000108.5(DLD):c.936C>A (p.Cys312Ter)
|
rs2032282970
|
|
|
NM_000108.5(DLD):c.93T>C (p.Pro31=)
|
rs1182818821
|
|
|
NM_000108.5(DLD):c.943C>T (p.Arg315Ter)
|
|
|
|
NM_000108.5(DLD):c.94C>T (p.Leu32=)
|
rs1241052092
|
|
|
NM_000108.5(DLD):c.954T>C (p.Phe318=)
|
rs2116270132
|
|
|
NM_000108.5(DLD):c.966G>C (p.Leu322Phe)
|
|
|
|
NM_000108.5(DLD):c.978G>A (p.Glu326=)
|
|
|
|
NM_000108.5(DLD):c.987dup (p.Glu330Ter)
|
|
|
|
NM_000108.5(DLD):c.988G>T (p.Glu330Ter)
|
|
|
|
NM_000108.5(DLD):c.991C>G (p.Leu331Val)
|
|
|
|
NM_000108.5(DLD):c.999C>G (p.Pro333=)
|
|
|