NM_024422.6(DSC2):c.1663+89A>G
|
rs1658128
|
0.99751
|
NM_024422.6(DSC2):c.1264-182T>C
|
rs1790701
|
0.78108
|
NM_024422.6(DSC2):c.70-307A>T
|
rs1789063
|
0.74053
|
NM_024422.6(DSC2):c.355-102A>C
|
rs1790683
|
0.67885
|
NM_024422.6(DSC2):c.70-288T>C
|
rs1790689
|
0.41010
|
NM_024422.6(DSC2):c.475-282G>A
|
rs1612474
|
0.39178
|
NM_024422.6(DSC2):c.70-154G>A
|
rs28379678
|
0.32370
|
NM_024422.6(DSC2):c.1264-293A>G
|
rs1789057
|
0.26239
|
NM_024422.6(DSC2):c.631-188C>T
|
rs2276373
|
0.25477
|
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val)
|
rs1893963
|
0.18480
|
NM_024422.6(DSC2):c.2251-98T>C
|
rs1893961
|
0.18479
|
NM_024422.6(DSC2):c.776-121A>G
|
rs17799745
|
0.12043
|
NM_024422.6(DSC2):c.111A>G (p.Leu37=)
|
rs12954874
|
0.10312
|
NM_024422.6(DSC2):c.2251-49T>C
|
rs1893962
|
0.05255
|
NM_024422.6(DSC2):c.2509-22G>A
|
rs1790682
|
0.03795
|
NM_024422.6(DSC2):c.1889-291T>C
|
rs78561044
|
0.02825
|
NM_024422.6(DSC2):c.1263+211A>G
|
rs55708837
|
0.01228
|
NM_024422.6(DSC2):c.2508+305G>T
|
rs79607795
|
0.01043
|
NM_024422.6(DSC2):c.2126-239G>T
|
rs78849616
|
0.01042
|
NM_024422.6(DSC2):c.474+302A>G
|
rs114545446
|
0.00994
|
NM_024422.6(DSC2):c.2125+190G>A
|
rs189743373
|
0.00927
|
NM_024422.6(DSC2):c.2508+309C>T
|
rs75543658
|
0.00918
|
NM_024422.6(DSC2):c.2509-245A>G
|
rs79887529
|
0.00916
|
NM_024422.6(DSC2):c.474+45C>G
|
rs149188953
|
0.00906
|
NM_024422.6(DSC2):c.351A>G (p.Thr117=)
|
rs117812913
|
0.00832
|
NM_024422.6(DSC2):c.1263+197A>T
|
rs561028259
|
0.00738
|
NM_024422.6(DSC2):c.1077+233C>T
|
rs138989161
|
0.00698
|
NM_024422.6(DSC2):c.1263+143A>T
|
rs148936015
|
0.00695
|
NM_024422.6(DSC2):c.1889-36T>C
|
rs74374471
|
0.00684
|
NM_024422.6(DSC2):c.1077+33A>G
|
rs75019786
|
0.00680
|
NM_024422.6(DSC2):c.1888+92A>G
|
rs148570239
|
0.00675
|
NM_024422.6(DSC2):c.1888+256_1888+262del
|
rs1567974260
|
0.00658
|
NM_024422.6(DSC2):c.154+198C>T
|
rs538111113
|
0.00605
|
NM_024422.6(DSC2):c.1719C>T (p.Asn573=)
|
rs140167653
|
0.00590
|
NM_024422.6(DSC2):c.1888+268_1888+274del
|
rs1186454969
|
0.00560
|
NM_024422.6(DSC2):c.475-200C>T
|
rs141255767
|
0.00557
|
NM_024422.6(DSC2):c.154+186T>C
|
rs189168455
|
0.00514
|
NM_024422.6(DSC2):c.2125+189C>T
|
rs554511193
|
0.00401
|
NM_024422.6(DSC2):c.1521-43G>A
|
rs114579898
|
0.00385
|
NM_024422.6(DSC2):c.*46A>T
|
rs77431927
|
0.00294
|
NM_024422.6(DSC2):c.1264-5C>T
|
rs183614856
|
0.00292
|
NM_024422.6(DSC2):c.1889-29T>C
|
rs200067684
|
0.00243
|
NM_024422.6(DSC2):c.2616C>T (p.Cys872=)
|
rs61731920
|
0.00194
|
NM_024422.6(DSC2):c.1888+51G>A
|
rs144384989
|
0.00189
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)
|
rs139399951
|
0.00104
|
NM_024422.6(DSC2):c.354+30A>G
|
rs192669482
|
0.00088
|
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly)
|
rs143342988
|
0.00079
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
NM_024422.6(DSC2):c.1789G>T (p.Val597Phe)
|
rs143040393
|
0.00068
|
NM_024422.6(DSC2):c.172T>G (p.Phe58Val)
|
rs138749562
|
0.00066
|
NM_024422.6(DSC2):c.2498G>A (p.Arg833His)
|
rs370325533
|
0.00061
|
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)
|
rs148185335
|
0.00060
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
NM_024422.6(DSC2):c.1901G>A (p.Arg634His)
|
rs200475862
|
0.00052
|
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys)
|
rs142410803
|
0.00045
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)
|
rs140232809
|
0.00035
|
NM_024422.6(DSC2):c.174T>C (p.Phe58=)
|
rs150792047
|
0.00034
|
NM_024422.6(DSC2):c.1269G>A (p.Leu423=)
|
rs376049846
|
0.00032
|
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)
|
rs561310777
|
0.00029
|
NM_024422.6(DSC2):c.631-13dup
|
rs551337657
|
0.00026
|
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)
|
rs201845641
|
0.00025
|
NM_024422.6(DSC2):c.1520+8C>G
|
rs372979057
|
0.00024
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr)
|
rs199918720
|
0.00022
|
NM_024422.6(DSC2):c.348A>G (p.Gln116=)
|
rs137941742
|
0.00021
|
NM_024422.6(DSC2):c.907G>A (p.Val303Met)
|
rs145560678
|
0.00021
|
NM_024422.6(DSC2):c.135C>T (p.Ala45=)
|
rs749323567
|
0.00018
|
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val)
|
rs367990772
|
0.00018
|
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr)
|
rs201856473
|
0.00016
|
NM_024422.6(DSC2):c.1521-7C>T
|
rs374810953
|
0.00015
|
NM_024422.6(DSC2):c.2019C>T (p.Thr673=)
|
rs201469817
|
0.00015
|
NM_024422.6(DSC2):c.2226A>G (p.Thr742=)
|
rs142807209
|
0.00014
|
NM_024422.6(DSC2):c.1788G>A (p.Ala596=)
|
rs146161960
|
0.00013
|
NM_024422.6(DSC2):c.2298G>C (p.Gln766His)
|
rs139558481
|
0.00013
|
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp)
|
rs368082152
|
0.00013
|
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala)
|
rs373201722
|
0.00013
|
NM_024422.6(DSC2):c.1070G>A (p.Arg357His)
|
rs201201194
|
0.00011
|
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn)
|
rs150318400
|
0.00010
|
NM_024422.6(DSC2):c.2314G>A (p.Val772Met)
|
rs146029947
|
0.00010
|
NM_024422.6(DSC2):c.2251-5T>G
|
rs374262463
|
0.00009
|
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser)
|
rs139979318
|
0.00009
|
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys)
|
rs180908546
|
0.00008
|
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly)
|
rs368089478
|
0.00006
|
NM_024422.6(DSC2):c.1638T>C (p.Asn546=)
|
rs145987522
|
0.00006
|
NM_024422.6(DSC2):c.2139G>A (p.Thr713=)
|
rs112532429
|
0.00006
|
NM_024422.6(DSC2):c.2151G>C (p.Gly717=)
|
rs752691135
|
0.00006
|
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln)
|
rs765067237
|
0.00006
|
NM_024422.6(DSC2):c.2259G>A (p.Ala753=)
|
rs201086521
|
0.00006
|
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe)
|
rs141873745
|
0.00006
|
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu)
|
rs141379407
|
0.00006
|
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys)
|
rs879255385
|
0.00005
|
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr)
|
rs777688726
|
0.00004
|
NM_024422.6(DSC2):c.1776G>A (p.Ala592=)
|
rs727502980
|
0.00004
|
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn)
|
rs762055797
|
0.00004
|
NM_024422.6(DSC2):c.2202G>A (p.Gln734=)
|
rs775922060
|
0.00004
|
NM_024422.6(DSC2):c.2208C>T (p.Asn736=)
|
rs727504534
|
0.00004
|
NM_024422.6(DSC2):c.2251-20G>A
|
rs779900062
|
0.00004
|
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)
|
rs139290300
|
0.00004
|
NM_024422.6(DSC2):c.2509-16T>C
|
rs978907622
|
0.00004
|
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)
|
rs200218585
|
0.00004
|
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)
|
rs368299411
|
0.00003
|
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn)
|
rs757065157
|
0.00003
|
NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr)
|
rs766413086
|
0.00003
|
NM_024422.6(DSC2):c.115G>A (p.Val39Ile)
|
rs1447651355
|
0.00003
|
NM_024422.6(DSC2):c.1264-4G>A
|
rs377439942
|
0.00003
|
NM_024422.6(DSC2):c.1814G>A (p.Gly605Asp)
|
rs1342808624
|
0.00003
|
NM_024422.6(DSC2):c.2157T>C (p.Ser719=)
|
rs985629599
|
0.00003
|
NM_024422.6(DSC2):c.2250+12G>T
|
rs201039801
|
0.00003
|
NM_024422.6(DSC2):c.2509-118A>G
|
rs137934790
|
0.00003
|
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys)
|
rs769787593
|
0.00003
|
NM_024422.6(DSC2):c.601G>A (p.Val201Ile)
|
rs202058544
|
0.00003
|
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln)
|
rs200634448
|
0.00003
|
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter)
|
rs145476705
|
0.00003
|
NM_024422.6(DSC2):c.776-13T>G
|
rs370595433
|
0.00003
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
NM_024422.6(DSC2):c.870A>G (p.Pro290=)
|
rs142653119
|
0.00003
|
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu)
|
rs560482778
|
0.00002
|
NM_024422.6(DSC2):c.1401G>A (p.Glu467=)
|
rs977781359
|
0.00002
|
NM_024422.6(DSC2):c.1456G>A (p.Val486Met)
|
rs188634770
|
0.00002
|
NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu)
|
rs977269905
|
0.00002
|
NM_024422.6(DSC2):c.1680G>A (p.Thr560=)
|
rs567202599
|
0.00002
|
NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter)
|
rs397517395
|
0.00002
|
NM_024422.6(DSC2):c.2126-20A>T
|
rs779297158
|
0.00002
|
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met)
|
rs180863872
|
0.00002
|
NM_024422.6(DSC2):c.2163G>A (p.Thr721=)
|
rs773220437
|
0.00002
|
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr)
|
rs777004957
|
0.00002
|
NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu)
|
rs1617629
|
0.00002
|
NM_024422.6(DSC2):c.2442G>A (p.Thr814=)
|
rs750971227
|
0.00002
|
NM_024422.6(DSC2):c.360A>G (p.Leu120=)
|
rs375772629
|
0.00002
|
NM_024422.6(DSC2):c.489G>A (p.Thr163=)
|
rs752952811
|
0.00002
|
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro)
|
rs149848359
|
0.00002
|
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser)
|
rs200802591
|
0.00002
|
NM_024422.6(DSC2):c.943-1G>A
|
rs796756333
|
0.00002
|
NM_024422.6(DSC2):c.1039G>T (p.Asp347Tyr)
|
rs1214725211
|
0.00001
|
NM_024422.6(DSC2):c.1081G>A (p.Val361Met)
|
rs751810874
|
0.00001
|
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter)
|
rs794728075
|
0.00001
|
NM_024422.6(DSC2):c.120C>A (p.Pro40=)
|
rs773259822
|
0.00001
|
NM_024422.6(DSC2):c.1421C>T (p.Pro474Leu)
|
rs776398212
|
0.00001
|
NM_024422.6(DSC2):c.1576T>G (p.Ser526Ala)
|
rs794728070
|
0.00001
|
NM_024422.6(DSC2):c.1577C>T (p.Ser526Leu)
|
rs887847751
|
0.00001
|
NM_024422.6(DSC2):c.1579A>G (p.Ile527Val)
|
rs756058875
|
0.00001
|
NM_024422.6(DSC2):c.1581C>G (p.Ile527Met)
|
rs750329563
|
0.00001
|
NM_024422.6(DSC2):c.1634A>G (p.Tyr545Cys)
|
rs776917359
|
0.00001
|
NM_024422.6(DSC2):c.1679C>T (p.Thr560Met)
|
rs772775522
|
0.00001
|
NM_024422.6(DSC2):c.1971C>A (p.Gly657=)
|
rs397517396
|
0.00001
|
NM_024422.6(DSC2):c.1981G>A (p.Val661Ile)
|
rs781419827
|
0.00001
|
NM_024422.6(DSC2):c.2104T>C (p.Leu702=)
|
rs753742489
|
0.00001
|
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val)
|
rs1217851416
|
0.00001
|
NM_024422.6(DSC2):c.2313C>T (p.Thr771=)
|
rs778571921
|
0.00001
|
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala)
|
rs749174176
|
0.00001
|
NM_024422.6(DSC2):c.2379C>A (p.Thr793=)
|
rs773813155
|
0.00001
|
NM_024422.6(DSC2):c.2396G>A (p.Gly799Glu)
|
rs794728071
|
0.00001
|
NM_024422.6(DSC2):c.2430G>A (p.Arg810=)
|
rs755276378
|
0.00001
|
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met)
|
rs756497616
|
0.00001
|
NM_024422.6(DSC2):c.2509-116A>G
|
rs746058773
|
0.00001
|
NM_024422.6(DSC2):c.2512G>A (p.Val838Met)
|
rs1986695514
|
0.00001
|
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter)
|
rs727504823
|
0.00001
|
NM_024422.6(DSC2):c.2642T>A (p.Leu881His)
|
rs1231247825
|
0.00001
|
NM_024422.6(DSC2):c.285C>T (p.Thr95=)
|
rs773333125
|
0.00001
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
NM_024422.6(DSC2):c.473del (p.Gln158fs)
|
rs1064795963
|
0.00001
|
NM_024422.6(DSC2):c.608G>A (p.Arg203His)
|
rs758527425
|
0.00001
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
NM_024422.6(DSC2):c.746C>A (p.Thr249Asn)
|
rs1987447409
|
0.00001
|
NM_024422.6(DSC2):c.775+8C>A
|
rs757814061
|
0.00001
|
NM_024422.6(DSC2):c.777C>T (p.Gly259=)
|
rs565694087
|
0.00001
|
NM_024422.6(DSC2):c.880C>A (p.Leu294Ile)
|
rs761796202
|
0.00001
|
NM_024422.6(DSC2):c.901A>G (p.Thr301Ala)
|
rs576466497
|
0.00001
|
NM_004949.3(DSC2):c.942+13dup
|
rs2143944223
|
|
NM_004949.5(DSC2):c.1234dup (p.Thr412fs)
|
rs397517390
|
|
NM_004949.5(DSC2):c.630+8_630+10delinsTT
|
rs397517401
|
|
NM_024422.6(DSC2):c.*137A>G
|
rs78190086
|
|
NM_024422.6(DSC2):c.101dup (p.Asn34fs)
|
rs1555640396
|
|
NM_024422.6(DSC2):c.1077+11G>A
|
rs727504868
|
|
NM_024422.6(DSC2):c.1077+9A>T
|
rs369381870
|
|
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly)
|
rs794728075
|
|
NM_024422.6(DSC2):c.1167G>A (p.Trp389Ter)
|
rs1555638995
|
|
NM_024422.6(DSC2):c.1239T>A (p.Asn413Lys)
|
rs765511398
|
|
NM_024422.6(DSC2):c.123del (p.Lys42fs)
|
rs1598592533
|
|
NM_024422.6(DSC2):c.1263+196del
|
rs573964762
|
|
NM_024422.6(DSC2):c.1276G>A (p.Glu426Lys)
|
rs794728076
|
|
NM_024422.6(DSC2):c.1323T>C (p.Ala441=)
|
rs745795354
|
|
NM_024422.6(DSC2):c.1350A>G (p.Arg450=)
|
rs144242114
|
|
NM_024422.6(DSC2):c.1352C>T (p.Ser451Leu)
|
rs794728068
|
|
NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly)
|
rs750965801
|
|
NM_024422.6(DSC2):c.1521-13T>A
|
rs794728069
|
|
NM_024422.6(DSC2):c.155-222C>T
|
rs115000647
|
|
NM_024422.6(DSC2):c.1635_1636dup (p.Asn546fs)
|
rs1555638622
|
|
NM_024422.6(DSC2):c.164A>T (p.Lys55Ile)
|
rs2144847063
|
|
NM_024422.6(DSC2):c.1653A>G (p.Ala551=)
|
rs1021990449
|
|
NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter)
|
rs878853170
|
|
NM_024422.6(DSC2):c.1664-1G>C
|
rs776877367
|
|
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu)
|
rs201517977
|
|
NM_024422.6(DSC2):c.1731A>G (p.Ile577Met)
|
rs2144800239
|
|
NM_024422.6(DSC2):c.1750A>T (p.Ile584Phe)
|
rs755041461
|
|
NM_024422.6(DSC2):c.1823_1828delinsATGACC (p.Phe608_Phe610delinsTyrAspLeu)
|
rs2144799644
|
|
NM_024422.6(DSC2):c.1871G>T (p.Arg624Ile)
|
|
|
NM_024422.6(DSC2):c.1888+216CA[16]
|
rs71175757
|
|
NM_024422.6(DSC2):c.1888+216CA[17]
|
rs71175757
|
|
NM_024422.6(DSC2):c.1888+216CA[18]
|
rs71175757
|
|
NM_024422.6(DSC2):c.1888+216CA[19]
|
rs71175757
|
|
NM_024422.6(DSC2):c.1888+216CA[21]
|
rs71175757
|
|
NM_024422.6(DSC2):c.1888+216CA[22]
|
rs71175757
|
|
NM_024422.6(DSC2):c.1918G>A (p.Asp640Asn)
|
rs267605146
|
|
NM_024422.6(DSC2):c.1938T>C (p.Tyr646=)
|
rs397517395
|
|
NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile)
|
rs794728062
|
|
NM_024422.6(DSC2):c.2035C>T (p.His679Tyr)
|
rs1567973075
|
|
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser)
|
rs757253682
|
|
NM_024422.6(DSC2):c.2125+1del
|
rs794728072
|
|
NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr)
|
rs1422818892
|
|
NM_024422.6(DSC2):c.2250+2T>C
|
rs1064793731
|
|
NM_024422.6(DSC2):c.2250+3A>G
|
rs1555637433
|
|
NM_024422.6(DSC2):c.2251-13G>A
|
rs1057523492
|
|
NM_024422.6(DSC2):c.2251-74_2279del
|
|
|
NM_024422.6(DSC2):c.2263G>A (p.Gly755Ser)
|
rs727502979
|
|
NM_024422.6(DSC2):c.2286C>T (p.Gly762=)
|
rs549251334
|
|
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)
|
rs377272752
|
|
NM_024422.6(DSC2):c.2369G>A (p.Gly790Glu)
|
rs1555637241
|
|
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln)
|
rs61731921
|
|
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu)
|
rs61731921
|
|
NM_024422.6(DSC2):c.2398del (p.Ala800fs)
|
rs397517399
|
|
NM_024422.6(DSC2):c.245C>A (p.Thr82Lys)
|
|
|
NM_024422.6(DSC2):c.2487del (p.Phe829fs)
|
rs794728073
|
|
NM_024422.6(DSC2):c.2508+207A>T
|
rs112843985
|
|
NM_024422.6(DSC2):c.2509-140_2509-139dup
|
rs749124606
|
|
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs)
|
rs794728077
|
|
NM_024422.6(DSC2):c.2549C>G (p.Ala850Gly)
|
rs2144781303
|
|
NM_024422.6(DSC2):c.2684_2685insG (p.Glu896fs)
|
rs2144780627
|
|
NM_024422.6(DSC2):c.2685dup (p.Glu896fs)
|
rs2144780609
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
NM_024422.6(DSC2):c.2705G>T (p.Ter902Leu)
|
rs1986683368
|
|
NM_024422.6(DSC2):c.354+1G>T
|
rs764016208
|
|
NM_024422.6(DSC2):c.354+265dup
|
rs138357583
|
|
NM_024422.6(DSC2):c.354+274del
|
rs138357583
|
|
NM_024422.6(DSC2):c.355-272del
|
rs3216154
|
|
NM_024422.6(DSC2):c.356T>A (p.Val119Asp)
|
rs794728074
|
|
NM_024422.6(DSC2):c.370C>T (p.His124Tyr)
|
rs371443698
|
|
NM_024422.6(DSC2):c.371A>G (p.His124Arg)
|
rs794728061
|
|
NM_024422.6(DSC2):c.431T>C (p.Met144Thr)
|
rs794728065
|
|
NM_024422.6(DSC2):c.437A>G (p.Glu146Gly)
|
rs575632427
|
|
NM_024422.6(DSC2):c.466C>T (p.Leu156Phe)
|
rs2144843013
|
|
NM_024422.6(DSC2):c.475-111_475-108del
|
rs141142926
|
|
NM_024422.6(DSC2):c.536A>G (p.Asp179Gly)
|
rs760185784
|
|
NM_024422.6(DSC2):c.572A>G (p.Asp191Gly)
|
rs2144838855
|
|
NM_024422.6(DSC2):c.584T>C (p.Leu195Ser)
|
rs876657787
|
|
NM_024422.6(DSC2):c.630+240_630+251del
|
rs1173445073
|
|
NM_024422.6(DSC2):c.630+256_630+257dup
|
rs768405529
|
|
NM_024422.6(DSC2):c.630+256_630+258dup
|
rs768405529
|
|
NM_024422.6(DSC2):c.630+256dup
|
rs768405529
|
|
NM_024422.6(DSC2):c.631-135C>T
|
rs113526672
|
|
NM_024422.6(DSC2):c.667C>T (p.Pro223Ser)
|
rs762722282
|
|
NM_024422.6(DSC2):c.70-11del
|
rs572309510
|
|
NM_024422.6(DSC2):c.70-18T>C
|
rs757641297
|
|
NM_024422.6(DSC2):c.70-20G>A
|
rs374486794
|
|
NM_024422.6(DSC2):c.715A>G (p.Asn239Asp)
|
rs774551962
|
|
NM_024422.6(DSC2):c.715_728dup (p.Phe243fs)
|
rs759922677
|
|
NM_024422.6(DSC2):c.737A>G (p.Glu246Gly)
|
rs1057524741
|
|
NM_024422.6(DSC2):c.741T>C (p.Thr247=)
|
rs1555639671
|
|
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del)
|
rs776784065
|
|
NM_024422.6(DSC2):c.744T>C (p.Tyr248=)
|
rs756495155
|
|
NM_024422.6(DSC2):c.77del (p.Ile26fs)
|
rs1555640399
|
|
NM_024422.6(DSC2):c.800C>G (p.Ala267Gly)
|
rs2144830884
|
|
NM_024422.6(DSC2):c.824C>A (p.Thr275Lys)
|
rs397517404
|
|
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter)
|
rs397517406
|
|
NM_024422.6(DSC2):c.880del (p.Leu294fs)
|
rs1451144520
|
|
NM_024422.6(DSC2):c.929A>G (p.Gln310Arg)
|
|
|
NM_024422.6(DSC2):c.942+10_942+11insATT
|
rs2144830086
|
|
NM_024422.6(DSC2):c.942+11_942+12insT
|
rs1555639465
|
|
NM_024422.6(DSC2):c.942+13_942+15dup
|
rs5823783
|
|
NM_024422.6(DSC2):c.942+27T>C
|
|
|
NM_024422.6(DSC2):c.942+3A>G
|
|
|
NM_024422.6(DSC2):c.943-293_943-276del
|
rs146968444
|
|
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer)
|
rs397517408
|
|
NM_024422.6(DSC2):c.994T>C (p.Tyr332His)
|
rs794728067
|
|