NM_002230.4(JUP):c.*853C>T
|
rs55919561
|
0.01530
|
NM_002230.4(JUP):c.*623G>A
|
rs55634776
|
0.01451
|
NM_002230.4(JUP):c.2047-14C>G
|
rs116666639
|
0.00819
|
NM_002230.4(JUP):c.1942G>A (p.Val648Ile)
|
rs143043662
|
0.00760
|
NM_002230.4(JUP):c.1563A>G (p.Ala521=)
|
rs149926974
|
0.00753
|
NM_002230.4(JUP):c.*1027G>C
|
rs147905567
|
0.00640
|
NM_002230.4(JUP):c.*2C>T
|
rs112879398
|
0.00630
|
NM_024334.3(TMEM43):c.*1054_*1058del
|
rs550702296
|
0.00553
|
NM_002230.4(JUP):c.*239G>A
|
rs115919416
|
0.00526
|
NM_002230.4(JUP):c.777C>T (p.Gly259=)
|
rs34890640
|
0.00507
|
NM_024422.6(DSC2):c.*1658G>A
|
rs185216732
|
0.00455
|
NM_024334.3(TMEM43):c.*806A>C
|
rs58476065
|
0.00408
|
NM_024422.6(DSC2):c.*1017C>T
|
rs191171295
|
0.00357
|
NM_001943.5(DSG2):c.*131C>T
|
rs146873880
|
0.00328
|
NM_024422.6(DSC2):c.*1237G>A
|
rs28530723
|
0.00292
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)
|
rs199821105
|
0.00240
|
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)
|
rs112592855
|
0.00231
|
NM_024422.6(DSC2):c.*185A>G
|
rs147458812
|
0.00227
|
NM_024334.3(TMEM43):c.*8C>T
|
rs192707412
|
0.00225
|
NM_001943.5(DSG2):c.2484T>C (p.Asp828=)
|
rs201051252
|
0.00217
|
NM_002230.4(JUP):c.-96G>A
|
rs552101358
|
0.00212
|
NM_001943.5(DSG2):c.*990G>A
|
rs553112355
|
0.00205
|
NM_001035.3(RYR2):c.10324-4A>G
|
rs72751287
|
0.00203
|
NM_001943.5(DSG2):c.*1399A>G
|
rs117440439
|
0.00186
|
NM_004415.4(DSP):c.1206G>A (p.Lys402=)
|
rs150422458
|
0.00185
|
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val)
|
rs200509948
|
0.00184
|
NM_001943.4(DSG2):c.-79C>G
|
rs552915392
|
0.00179
|
NM_001943.5(DSG2):c.-55G>C
|
rs551539015
|
0.00176
|
NM_001943.5(DSG2):c.*989C>T
|
rs140755940
|
0.00172
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_002230.4(JUP):c.*21C>A
|
rs41275669
|
0.00146
|
NM_001035.3(RYR2):c.9067+12C>T
|
rs112365440
|
0.00143
|
NM_024422.6(DSC2):c.-408T>C
|
rs188926948
|
0.00141
|
NM_024422.6(DSC2):c.*764T>A
|
rs539965523
|
0.00140
|
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)
|
rs149070106
|
0.00139
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=)
|
rs144256966
|
0.00132
|
NM_002230.4(JUP):c.*771G>C
|
rs569650118
|
0.00130
|
NM_001943.5(DSG2):c.*1530T>C
|
rs15668
|
0.00126
|
NM_004415.4(DSP):c.2346C>T (p.Asp782=)
|
rs139071827
|
0.00126
|
NM_002230.4(JUP):c.*787A>G
|
rs551870163
|
0.00125
|
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)
|
rs193922628
|
0.00123
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
NM_001035.3(RYR2):c.*509A>G
|
rs565288028
|
0.00105
|
NM_024422.6(DSC2):c.*1541A>T
|
rs571420655
|
0.00101
|
NM_004572.3(PKP2):c.-99T>C
|
rs565997897
|
0.00098
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
NM_001035.3(RYR2):c.828A>G (p.Arg276=)
|
rs180711819
|
0.00086
|
NM_024422.6(DSC2):c.*534A>G
|
rs373266930
|
0.00083
|
NM_002230.4(JUP):c.*98C>T
|
rs112151379
|
0.00080
|
NM_024422.6(DSC2):c.*1104G>A
|
rs186055396
|
0.00080
|
NM_001005242.3(PKP2):c.1171-10T>C
|
rs200122872
|
0.00073
|
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)
|
rs148478829
|
0.00073
|
NM_024422.6(DSC2):c.*1784G>T
|
rs375290800
|
0.00073
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
NM_001035.3(RYR2):c.11557+14C>T
|
rs374155447
|
0.00066
|
NM_001005242.3(PKP2):c.*1246C>T
|
rs187618849
|
0.00064
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)
|
rs202015519
|
0.00061
|
NM_001943.5(DSG2):c.852T>C (p.Asn284=)
|
rs62095193
|
0.00061
|
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser)
|
rs140852019
|
0.00060
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)
|
rs113422365
|
0.00058
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
NM_001943.5(DSG2):c.*2C>T
|
rs183494886
|
0.00054
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)
|
rs146129084
|
0.00053
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
NM_002230.4(JUP):c.1054+7A>T
|
rs371988639
|
0.00049
|
NM_002230.4(JUP):c.297G>A (p.Ser99=)
|
rs200976464
|
0.00049
|
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
|
rs200525962
|
0.00048
|
NM_004415.4(DSP):c.1574+14G>T
|
rs200443042
|
0.00048
|
NM_004415.4(DSP):c.8019C>T (p.Asp2673=)
|
rs144275591
|
0.00047
|
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)
|
rs373282364
|
0.00046
|
NM_004415.4(DSP):c.8301C>G (p.Thr2767=)
|
rs145362059
|
0.00046
|
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)
|
rs186906598
|
0.00045
|
NM_024422.6(DSC2):c.*472T>A
|
rs555348907
|
0.00045
|
NM_001035.3(RYR2):c.463+14G>A
|
rs776302587
|
0.00042
|
NM_004415.4(DSP):c.3123C>T (p.Leu1041=)
|
rs149929637
|
0.00042
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)
|
rs142803672
|
0.00041
|
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser)
|
rs144536197
|
0.00039
|
NM_001943.5(DSG2):c.*211A>G
|
rs555912274
|
0.00039
|
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
|
rs200092869
|
0.00038
|
NM_001943.5(DSG2):c.*889G>A
|
rs886053729
|
0.00038
|
NM_002230.4(JUP):c.1807G>T (p.Val603Leu)
|
rs200327969
|
0.00038
|
NM_004415.4(DSP):c.688G>A (p.Asp230Asn)
|
rs147315869
|
0.00038
|
NM_001943.5(DSG2):c.*737C>G
|
rs767211637
|
0.00037
|
NM_002230.4(JUP):c.1366G>A (p.Val456Ile)
|
rs78437817
|
0.00036
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
NM_001035.3(RYR2):c.*399A>G
|
rs184537159
|
0.00035
|
NM_001943.5(DSG2):c.*1036C>G
|
rs191443311
|
0.00032
|
NM_002230.4(JUP):c.*339C>T
|
rs575041614
|
0.00031
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
NM_001943.5(DSG2):c.*1831T>C
|
rs546796254
|
0.00030
|
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)
|
rs561310777
|
0.00029
|
NM_001035.3(RYR2):c.10231-5C>T
|
rs186326951
|
0.00028
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
NM_001035.3(RYR2):c.*1108A>G
|
rs540171235
|
0.00026
|
NM_002230.4(JUP):c.486G>A (p.Ala162=)
|
rs113317262
|
0.00026
|
NM_024422.6(DSC2):c.*1927T>C
|
rs532718510
|
0.00026
|
NM_001035.3(RYR2):c.2574G>A (p.Thr858=)
|
rs367992907
|
0.00025
|
NM_001035.3(RYR2):c.6689-12T>C
|
rs370972311
|
0.00025
|
NM_001943.5(DSG2):c.*300G>A
|
rs747504155
|
0.00025
|
NM_001035.3(RYR2):c.-63G>T
|
rs578020342
|
0.00024
|
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)
|
rs377293019
|
0.00024
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
NM_001005242.3(PKP2):c.*330A>G
|
rs375759731
|
0.00023
|
NM_002230.4(JUP):c.546G>A (p.Ser182=)
|
rs202038498
|
0.00023
|
NM_024422.6(DSC2):c.*1628T>G
|
rs767804423
|
0.00023
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
NM_001005242.3(PKP2):c.*110T>G
|
rs575103888
|
0.00022
|
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)
|
rs149542398
|
0.00022
|
NM_001943.5(DSG2):c.*608G>A
|
rs886053724
|
0.00022
|
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)
|
rs151178348
|
0.00022
|
NM_024422.6(DSC2):c.*1704G>T
|
rs181853776
|
0.00022
|
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr)
|
rs199918720
|
0.00022
|
NM_001005242.3(PKP2):c.*22G>A
|
rs371003054
|
0.00021
|
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=)
|
rs369917806
|
0.00021
|
NM_001035.3(RYR2):c.577-14G>A
|
rs148019277
|
0.00021
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00021
|
NM_024422.6(DSC2):c.907G>A (p.Val303Met)
|
rs145560678
|
0.00021
|
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=)
|
rs368971586
|
0.00020
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
NM_001035.3(RYR2):c.1006-12C>T
|
rs367998175
|
0.00019
|
NM_001943.5(DSG2):c.*739G>A
|
rs775624337
|
0.00019
|
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser)
|
rs147628503
|
0.00019
|
NM_004415.4(DSP):c.1344G>A (p.Leu448=)
|
rs138226280
|
0.00019
|
NM_001005242.3(PKP2):c.*839C>T
|
rs542578192
|
0.00018
|
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)
|
rs564806219
|
0.00018
|
NM_001943.5(DSG2):c.2334+9G>A
|
rs776516070
|
0.00018
|
NM_002230.4(JUP):c.1377G>T (p.Leu459=)
|
rs147370522
|
0.00018
|
NM_002230.4(JUP):c.2031G>A (p.Pro677=)
|
rs188888662
|
0.00018
|
NM_001943.5(DSG2):c.1851C>T (p.Leu617=)
|
rs202057770
|
0.00017
|
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met)
|
rs143038626
|
0.00016
|
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)
|
rs199583774
|
0.00016
|
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr)
|
rs139215336
|
0.00016
|
NM_001035.3(RYR2):c.*1329C>G
|
rs749767730
|
0.00016
|
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)
|
rs547005691
|
0.00016
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His)
|
rs373024059
|
0.00016
|
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)
|
rs185237690
|
0.00016
|
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
|
rs200420897
|
0.00016
|
NM_001943.5(DSG2):c.*2034C>T
|
rs886053738
|
0.00016
|
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn)
|
rs199826380
|
0.00016
|
NM_002230.4(JUP):c.2178C>T (p.Ile726=)
|
rs141295561
|
0.00016
|
NM_004415.4(DSP):c.-157G>A
|
rs886061742
|
0.00016
|
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln)
|
rs146642551
|
0.00016
|
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)
|
rs200476515
|
0.00016
|
NM_001005242.3(PKP2):c.195C>T (p.Ala65=)
|
rs397517014
|
0.00015
|
NM_001035.3(RYR2):c.*142C>T
|
rs552725083
|
0.00015
|
NM_001035.3(RYR2):c.6022+5G>A
|
rs376389213
|
0.00015
|
NM_001943.5(DSG2):c.*1263C>T
|
rs192887371
|
0.00015
|
NM_002230.4(JUP):c.*413C>T
|
rs559600252
|
0.00015
|
NM_002230.4(JUP):c.2086+13C>T
|
rs199935213
|
0.00015
|
NM_001943.5(DSG2):c.*422C>T
|
rs886053722
|
0.00014
|
NM_001943.5(DSG2):c.*696G>A
|
rs773284085
|
0.00014
|
NM_002230.4(JUP):c.801C>T (p.Ala267=)
|
rs138397457
|
0.00014
|
NM_003239.5(TGFB3):c.-547dup
|
rs886050802
|
0.00014
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)
|
rs138907450
|
0.00014
|
NM_024422.6(DSC2):c.*2029A>T
|
rs548041881
|
0.00014
|
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
|
rs201371633
|
0.00013
|
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)
|
rs397516524
|
0.00013
|
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=)
|
rs765283048
|
0.00013
|
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)
|
rs199730192
|
0.00013
|
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr)
|
rs375358300
|
0.00013
|
NM_001943.5(DSG2):c.45+9C>G
|
rs376573409
|
0.00013
|
NM_004415.4(DSP):c.*577G>A
|
rs886061755
|
0.00013
|
NM_004415.4(DSP):c.1575-15C>G
|
rs369184165
|
0.00013
|
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)
|
rs139799237
|
0.00013
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
NM_024422.6(DSC2):c.*1158A>G
|
rs749440073
|
0.00013
|
NM_024422.6(DSC2):c.1788G>A (p.Ala596=)
|
rs146161960
|
0.00013
|
NM_001005242.3(PKP2):c.306C>A (p.Ser102=)
|
rs376613662
|
0.00012
|
NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser)
|
rs777365708
|
0.00012
|
NM_001943.5(DSG2):c.*847T>C
|
rs930886277
|
0.00012
|
NM_002230.4(JUP):c.1959C>T (p.Ser653=)
|
rs375451560
|
0.00012
|
NM_004415.4(DSP):c.*289C>T
|
rs886061749
|
0.00012
|
NM_004415.4(DSP):c.7125G>A (p.Gly2375=)
|
rs141709096
|
0.00012
|
NM_001005242.3(PKP2):c.1323G>T (p.Arg441=)
|
rs3748278
|
0.00011
|
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp)
|
rs370219248
|
0.00011
|
NM_001035.3(RYR2):c.*1152G>A
|
rs551419848
|
0.00011
|
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=)
|
rs371088367
|
0.00011
|
NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val)
|
rs1394059438
|
0.00011
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
NM_001943.5(DSG2):c.*1803A>G
|
rs147816088
|
0.00011
|
NM_004415.4(DSP):c.1483G>A (p.Val495Met)
|
rs372014020
|
0.00011
|
NM_024422.6(DSC2):c.*1408A>G
|
rs539091896
|
0.00011
|
NM_024422.6(DSC2):c.*753T>G
|
rs940327323
|
0.00011
|
NM_001005242.3(PKP2):c.*932C>A
|
rs766792445
|
0.00010
|
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser)
|
rs201944276
|
0.00010
|
NM_001035.3(RYR2):c.13957-5C>G
|
rs189772599
|
0.00010
|
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)
|
rs193922626
|
0.00010
|
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)
|
rs371934582
|
0.00010
|
NM_001035.3(RYR2):c.9067+10C>T
|
rs372631657
|
0.00010
|
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile)
|
rs199761749
|
0.00010
|
NM_001943.5(DSG2):c.2643C>T (p.Thr881=)
|
rs180695545
|
0.00010
|
NM_002230.4(JUP):c.-55C>T
|
rs886052921
|
0.00010
|
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)
|
rs751361395
|
0.00010
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)
|
rs200947767
|
0.00009
|
NM_001035.3(RYR2):c.3598+13T>C
|
rs145104355
|
0.00009
|
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)
|
rs755391572
|
0.00009
|
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)
|
rs776046135
|
0.00009
|
NM_001943.5(DSG2):c.*425T>C
|
rs192049697
|
0.00009
|
NM_001943.5(DSG2):c.147C>T (p.Arg49=)
|
rs531036279
|
0.00009
|
NM_002230.3(JUP):c.*1136C>T
|
rs539534709
|
0.00009
|
NM_003239.5(TGFB3):c.*185C>T
|
rs3917216
|
0.00009
|
NM_004415.4(DSP):c.*58T>C
|
rs753281894
|
0.00009
|
NM_004415.4(DSP):c.5523A>C (p.Ser1841=)
|
rs730882116
|
0.00009
|
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys)
|
rs144392839
|
0.00009
|
NM_001005242.3(PKP2):c.1379-2038T>C
|
rs781397552
|
0.00008
|
NM_001035.3(RYR2):c.*107G>A
|
rs867864296
|
0.00008
|
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr)
|
rs375021201
|
0.00008
|
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)
|
rs371157286
|
0.00008
|
NM_001035.3(RYR2):c.684C>T (p.Leu228=)
|
rs72549417
|
0.00008
|
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=)
|
rs376057173
|
0.00008
|
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)
|
rs372601642
|
0.00008
|
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln)
|
rs555499592
|
0.00008
|
NM_004415.4(DSP):c.5316T>C (p.Asp1772=)
|
rs376186141
|
0.00008
|
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys)
|
rs762556795
|
0.00008
|
NM_001005242.3(PKP2):c.795G>T (p.Gly265=)
|
rs375268778
|
0.00007
|
NM_001035.3(RYR2):c.*761G>A
|
rs1034404143
|
0.00007
|
NM_001035.3(RYR2):c.10017C>T (p.His3339=)
|
rs376439588
|
0.00007
|
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=)
|
rs774625105
|
0.00007
|
NM_001943.5(DSG2):c.*392A>G
|
rs886053721
|
0.00007
|
NM_002230.4(JUP):c.1774-6C>T
|
rs375016135
|
0.00007
|
NM_002230.4(JUP):c.56C>T (p.Thr19Ile)
|
rs570878629
|
0.00007
|
NM_004415.4(DSP):c.3102C>T (p.Ile1034=)
|
rs569974617
|
0.00007
|
NM_001005242.3(PKP2):c.*215G>A
|
rs886049318
|
0.00006
|
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)
|
rs397516999
|
0.00006
|
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val)
|
rs145324631
|
0.00006
|
NM_001035.3(RYR2):c.10725+4A>T
|
rs116444428
|
0.00006
|
NM_001035.3(RYR2):c.1612+13A>G
|
rs368200572
|
0.00006
|
NM_001035.3(RYR2):c.2717C>T (p.Pro906Leu)
|
rs397516522
|
0.00006
|
NM_001035.3(RYR2):c.2772G>A (p.Leu924=)
|
rs780664060
|
0.00006
|
NM_001035.3(RYR2):c.3164G>A (p.Arg1055His)
|
rs757490010
|
0.00006
|
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn)
|
rs761770946
|
0.00006
|
NM_001035.3(RYR2):c.848+8G>C
|
rs373075790
|
0.00006
|
NM_001943.5(DSG2):c.*289A>G
|
rs541237335
|
0.00006
|
NM_001943.5(DSG2):c.15G>C (p.Pro5=)
|
rs772663614
|
0.00006
|
NM_002230.4(JUP):c.*351G>A
|
rs782725604
|
0.00006
|
NM_002230.4(JUP):c.-51C>G
|
rs886052920
|
0.00006
|
NM_002230.4(JUP):c.1055-14del
|
rs140002183
|
0.00006
|
NM_002230.4(JUP):c.1912A>C (p.Asn638His)
|
rs782658008
|
0.00006
|
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del)
|
rs782439900
|
0.00006
|
NM_002230.4(JUP):c.561C>T (p.Ala187=)
|
rs139552714
|
0.00006
|
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln)
|
rs768455823
|
0.00006
|
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)
|
rs200745877
|
0.00006
|
NM_024422.6(DSC2):c.2139G>A (p.Thr713=)
|
rs112532429
|
0.00006
|
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met)
|
rs759513934
|
0.00006
|
NM_001005242.3(PKP2):c.1379-2000T>A
|
rs769899368
|
0.00005
|
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met)
|
rs201580443
|
0.00005
|
NM_001035.3(RYR2):c.*566G>T
|
rs886046293
|
0.00005
|
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=)
|
rs201218861
|
0.00005
|
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu)
|
rs377368967
|
0.00005
|
NM_001943.5(DSG2):c.*859G>A
|
rs886053727
|
0.00005
|
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg)
|
rs765793636
|
0.00005
|
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu)
|
rs146402368
|
0.00005
|
NM_001943.5(DSG2):c.2897G>C (p.Arg966Thr)
|
rs764925318
|
0.00005
|
NM_002230.4(JUP):c.*728A>C
|
rs889216050
|
0.00005
|
NM_002230.4(JUP):c.*906A>C
|
rs569644513
|
0.00005
|
NM_004415.4(DSP):c.*62A>T
|
rs182788116
|
0.00005
|
NM_004415.4(DSP):c.2247A>G (p.Leu749=)
|
rs28763963
|
0.00005
|
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=)
|
rs148894066
|
0.00005
|
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu)
|
rs201826850
|
0.00005
|
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu)
|
rs764232504
|
0.00005
|
NM_024422.6(DSC2):c.*1972A>C
|
rs751949322
|
0.00005
|
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys)
|
rs193922708
|
0.00005
|
NM_001005242.3(PKP2):c.*41G>A
|
rs754465954
|
0.00004
|
NM_001005242.3(PKP2):c.1064G>A (p.Arg355Gln)
|
rs370868564
|
0.00004
|
NM_001005242.3(PKP2):c.1379-1997G>A
|
rs781072699
|
0.00004
|
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=)
|
rs727504098
|
0.00004
|
NM_001005242.3(PKP2):c.1464C>T (p.Ile488=)
|
rs145387575
|
0.00004
|
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)
|
rs529442984
|
0.00004
|
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
|
rs144018320
|
0.00004
|
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=)
|
rs147995773
|
0.00004
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)
|
rs727504509
|
0.00004
|
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn)
|
rs373222905
|
0.00004
|
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=)
|
rs754976419
|
0.00004
|
NM_001035.3(RYR2):c.10495-14A>G
|
rs727505057
|
0.00004
|
NM_001035.3(RYR2):c.11557+15G>A
|
rs761490797
|
0.00004
|
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=)
|
rs185482345
|
0.00004
|
NM_001035.3(RYR2):c.7459C>A (p.Leu2487Ile)
|
rs748581317
|
0.00004
|
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr)
|
rs397516550
|
0.00004
|
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=)
|
rs774657844
|
0.00004
|
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)
|
rs201669522
|
0.00004
|
NM_001943.5(DSG2):c.*1136G>A
|
rs764985189
|
0.00004
|
NM_001943.5(DSG2):c.*806C>T
|
rs961192815
|
0.00004
|
NM_001943.5(DSG2):c.-33G>A
|
rs903231469
|
0.00004
|
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr)
|
rs201046640
|
0.00004
|
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn)
|
rs397516701
|
0.00004
|
NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly)
|
rs763315024
|
0.00004
|
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe)
|
rs141405267
|
0.00004
|
NM_001943.5(DSG2):c.390C>T (p.Tyr130=)
|
rs369489095
|
0.00004
|
NM_002230.4(JUP):c.*87G>A
|
rs375989026
|
0.00004
|
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)
|
rs150194093
|
0.00004
|
NM_002230.4(JUP):c.161C>T (p.Thr54Met)
|
rs782529328
|
0.00004
|
NM_002230.4(JUP):c.1806C>T (p.Arg602=)
|
rs781934535
|
0.00004
|
NM_002230.4(JUP):c.1902G>T (p.Leu634=)
|
rs145808264
|
0.00004
|
NM_002230.4(JUP):c.321G>A (p.Glu107=)
|
rs781978743
|
0.00004
|
NM_002230.4(JUP):c.607C>T (p.Arg203Cys)
|
rs147354282
|
0.00004
|
NM_004415.4(DSP):c.1469G>A (p.Arg490His)
|
rs747815091
|
0.00004
|
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys)
|
rs778350289
|
0.00004
|
NM_004415.4(DSP):c.264C>T (p.Ile88=)
|
rs727502997
|
0.00004
|
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)
|
rs775594375
|
0.00004
|
NM_004415.4(DSP):c.939C>T (p.Ser313=)
|
rs766580649
|
0.00004
|
NM_024422.6(DSC2):c.*1346T>A
|
rs1029495207
|
0.00004
|
NM_024422.6(DSC2):c.*1444A>G
|
rs886053684
|
0.00004
|
NM_024422.6(DSC2):c.-187C>T
|
rs562293556
|
0.00004
|
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)
|
rs139290300
|
0.00004
|
NM_024422.6(DSC2):c.408A>G (p.Arg136=)
|
rs561653481
|
0.00004
|
NM_001005242.3(PKP2):c.*227T>C
|
rs886049317
|
0.00003
|
NM_001005242.3(PKP2):c.146A>G (p.Gln49Arg)
|
rs763492084
|
0.00003
|
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val)
|
rs397517002
|
0.00003
|
NM_001005242.3(PKP2):c.611G>A (p.Arg204His)
|
rs755215178
|
0.00003
|
NM_001035.3(RYR2):c.*338C>T
|
rs879161531
|
0.00003
|
NM_001035.3(RYR2):c.*781T>A
|
rs139272315
|
0.00003
|
NM_001035.3(RYR2):c.*946C>T
|
rs762908336
|
0.00003
|
NM_001035.3(RYR2):c.11497G>A (p.Asp3833Asn)
|
rs768711283
|
0.00003
|
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=)
|
rs754610647
|
0.00003
|
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)
|
rs763374929
|
0.00003
|
NM_001035.3(RYR2):c.1241G>A (p.Arg414His)
|
rs371121679
|
0.00003
|
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)
|
rs753733164
|
0.00003
|
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)
|
rs548313130
|
0.00003
|
NM_001035.3(RYR2):c.1789A>G (p.Ile597Val)
|
rs770408945
|
0.00003
|
NM_001035.3(RYR2):c.5011C>T (p.Arg1671Trp)
|
rs747404408
|
0.00003
|
NM_001035.3(RYR2):c.837G>A (p.Thr279=)
|
rs769682840
|
0.00003
|
NM_001035.3(RYR2):c.8515-7A>G
|
rs766622060
|
0.00003
|
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=)
|
rs755520825
|
0.00003
|
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg)
|
rs760379293
|
0.00003
|
NM_001943.4(DSG2):c.-156G>A
|
rs886053707
|
0.00003
|
NM_001943.5(DSG2):c.122A>T (p.His41Leu)
|
rs777373864
|
0.00003
|
NM_001943.5(DSG2):c.2162A>G (p.His721Arg)
|
rs756912703
|
0.00003
|
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met)
|
rs727504783
|
0.00003
|
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala)
|
rs727502985
|
0.00003
|
NM_002230.4(JUP):c.*567C>G
|
rs886052914
|
0.00003
|
NM_002230.4(JUP):c.*573C>T
|
rs886052913
|
0.00003
|
NM_002230.4(JUP):c.*670G>T
|
rs782166986
|
0.00003
|
NM_002230.4(JUP):c.1218C>T (p.Asn406=)
|
rs782565128
|
0.00003
|
NM_002230.4(JUP):c.1995C>T (p.Ser665=)
|
rs782094877
|
0.00003
|
NM_002230.4(JUP):c.467C>T (p.Pro156Leu)
|
rs782052422
|
0.00003
|
NM_002230.4(JUP):c.509C>T (p.Ser170Leu)
|
rs782284038
|
0.00003
|
NM_004415.4(DSP):c.*358A>T
|
rs886061752
|
0.00003
|
NM_004415.4(DSP):c.1743C>T (p.Ala581=)
|
rs139095230
|
0.00003
|
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)
|
rs764951792
|
0.00003
|
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)
|
rs535202724
|
0.00003
|
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln)
|
rs370063434
|
0.00003
|
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly)
|
rs140663822
|
0.00003
|
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala)
|
rs886061748
|
0.00003
|
NM_024334.3(TMEM43):c.*849T>C
|
rs886058034
|
0.00003
|
NM_024422.6(DSC2):c.*166C>G
|
rs886053692
|
0.00003
|
NM_024422.6(DSC2):c.*864G>A
|
rs746780312
|
0.00003
|
NM_024422.6(DSC2):c.-366A>G
|
rs886053700
|
0.00003
|
NM_024422.6(DSC2):c.2250+12G>T
|
rs201039801
|
0.00003
|
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys)
|
rs769787593
|
0.00003
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
NM_001005242.3(PKP2):c.*1220A>G
|
rs886049306
|
0.00002
|
NM_001005242.3(PKP2):c.*607A>C
|
rs187797390
|
0.00002
|
NM_001005242.3(PKP2):c.1379-2012C>T
|
rs760461056
|
0.00002
|
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=)
|
rs368325383
|
0.00002
|
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser)
|
rs143323961
|
0.00002
|
NM_001005242.3(PKP2):c.2068A>G (p.Thr690Ala)
|
rs867374780
|
0.00002
|
NM_001005242.3(PKP2):c.387G>A (p.Gln129=)
|
rs768974835
|
0.00002
|
NM_001035.3(RYR2):c.*472A>G
|
rs1006941124
|
0.00002
|
NM_001035.3(RYR2):c.*869G>A
|
rs886046303
|
0.00002
|
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln)
|
rs748805290
|
0.00002
|
NM_001035.3(RYR2):c.11039+7T>C
|
rs569571855
|
0.00002
|
NM_001035.3(RYR2):c.1404G>A (p.Glu468=)
|
rs768538183
|
0.00002
|
NM_001035.3(RYR2):c.1940G>A (p.Arg647His)
|
rs766330093
|
0.00002
|
NM_001035.3(RYR2):c.4899T>C (p.Pro1633=)
|
rs1060503853
|
0.00002
|
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)
|
rs754364233
|
0.00002
|
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val)
|
rs370141970
|
0.00002
|
NM_001943.5(DSG2):c.2569C>T (p.Pro857Ser)
|
rs775091459
|
0.00002
|
NM_001943.5(DSG2):c.2623A>G (p.Met875Val)
|
rs370316475
|
0.00002
|
NM_001943.5(DSG2):c.3112A>G (p.Ile1038Val)
|
rs774113529
|
0.00002
|
NM_001943.5(DSG2):c.356G>A (p.Arg119Gln)
|
rs532305326
|
0.00002
|
NM_002230.4(JUP):c.*316G>A
|
rs910457325
|
0.00002
|
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe)
|
rs142213474
|
0.00002
|
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala)
|
rs782653485
|
0.00002
|
NM_002230.4(JUP):c.2208G>A (p.Pro736=)
|
rs371508357
|
0.00002
|
NM_002230.4(JUP):c.694G>A (p.Val232Ile)
|
rs137989964
|
0.00002
|
NM_004415.4(DSP):c.1149A>G (p.Glu383=)
|
rs572980966
|
0.00002
|
NM_004415.4(DSP):c.1903+4G>A
|
rs757726608
|
0.00002
|
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)
|
rs749051278
|
0.00002
|
NM_004415.4(DSP):c.3147G>A (p.Ser1049=)
|
rs756341143
|
0.00002
|
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)
|
rs372440854
|
0.00002
|
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala)
|
rs760433367
|
0.00002
|
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile)
|
rs200243976
|
0.00002
|
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys)
|
rs142078450
|
0.00002
|
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)
|
rs147484870
|
0.00002
|
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr)
|
rs727504570
|
0.00002
|
NM_024422.6(DSC2):c.*1110A>G
|
rs1358624129
|
0.00002
|
NM_024422.6(DSC2):c.*1356G>A
|
rs1986629320
|
0.00002
|
NM_024422.6(DSC2):c.*784G>T
|
rs1613246
|
0.00002
|
NM_024422.6(DSC2):c.-155G>T
|
rs886053699
|
0.00002
|
NM_024422.6(DSC2):c.1401G>A (p.Glu467=)
|
rs977781359
|
0.00002
|
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile)
|
rs192041220
|
0.00001
|
NM_001005242.3(PKP2):c.1236G>A (p.Gln412=)
|
rs779749104
|
0.00001
|
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val)
|
rs763749576
|
0.00001
|
NM_001005242.3(PKP2):c.1840-5G>C
|
rs752016948
|
0.00001
|
NM_001005242.3(PKP2):c.2216C>T (p.Pro739Leu)
|
rs758834771
|
0.00001
|
NM_001005242.3(PKP2):c.2455A>G (p.Lys819Glu)
|
rs1235732912
|
0.00001
|
NM_001005242.3(PKP2):c.493G>A (p.Asp165Asn)
|
rs886049322
|
0.00001
|
NM_001005242.3(PKP2):c.837C>T (p.Pro279=)
|
rs572938229
|
0.00001
|
NM_001005242.3(PKP2):c.921T>C (p.Ser307=)
|
rs941328238
|
0.00001
|
NM_001035.3(RYR2):c.*1131A>G
|
rs1023948327
|
0.00001
|
NM_001035.3(RYR2):c.*1268G>A
|
rs1231042485
|
0.00001
|
NM_001035.3(RYR2):c.*299C>G
|
rs886046288
|
0.00001
|
NM_001035.3(RYR2):c.*988C>T
|
rs898651416
|
0.00001
|
NM_001035.3(RYR2):c.-15A>G
|
rs772056240
|
0.00001
|
NM_001035.3(RYR2):c.10008G>A (p.Glu3336=)
|
rs753175584
|
0.00001
|
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=)
|
rs779316628
|
0.00001
|
NM_001035.3(RYR2):c.10551C>A (p.Gly3517=)
|
rs768797598
|
0.00001
|
NM_001035.3(RYR2):c.11040-3C>T
|
rs876657984
|
0.00001
|
NM_001035.3(RYR2):c.11146-6G>A
|
rs886046277
|
0.00001
|
NM_001035.3(RYR2):c.11552A>G (p.Asn3851Ser)
|
rs967116157
|
0.00001
|
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu)
|
rs779666612
|
0.00001
|
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=)
|
rs184625125
|
0.00001
|
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=)
|
rs748716535
|
0.00001
|
NM_001035.3(RYR2):c.12404G>A (p.Arg4135His)
|
rs764202302
|
0.00001
|
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=)
|
rs3753631
|
0.00001
|
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn)
|
rs755585430
|
0.00001
|
NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=)
|
rs183933829
|
0.00001
|
NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=)
|
rs886046279
|
0.00001
|
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=)
|
rs375213838
|
0.00001
|
NM_001035.3(RYR2):c.13984G>A (p.Gly4662Ser)
|
rs886039213
|
0.00001
|
NM_001035.3(RYR2):c.14085A>C (p.Ser4695=)
|
rs758566439
|
0.00001
|
NM_001035.3(RYR2):c.1444C>T (p.Leu482=)
|
rs117903753
|
0.00001
|
NM_001035.3(RYR2):c.14808+12A>C
|
rs886046281
|
0.00001
|
NM_001035.3(RYR2):c.2101G>A (p.Glu701Lys)
|
rs748762074
|
0.00001
|
NM_001035.3(RYR2):c.2175T>C (p.Tyr725=)
|
rs758813812
|
0.00001
|
NM_001035.3(RYR2):c.2223A>G (p.Val741=)
|
rs117242563
|
0.00001
|
NM_001035.3(RYR2):c.2253T>G (p.Thr751=)
|
rs762905211
|
0.00001
|
NM_001035.3(RYR2):c.2542C>T (p.Arg848Cys)
|
rs765102386
|
0.00001
|
NM_001035.3(RYR2):c.2808G>A (p.Ser936=)
|
rs1057521205
|
0.00001
|
NM_001035.3(RYR2):c.3067-14G>C
|
rs757471501
|
0.00001
|
NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=)
|
rs747358776
|
0.00001
|
NM_001035.3(RYR2):c.3181G>A (p.Gly1061Ser)
|
rs747447414
|
0.00001
|
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser)
|
rs886046265
|
0.00001
|
NM_001035.3(RYR2):c.3517A>G (p.Met1173Val)
|
rs762372863
|
0.00001
|
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=)
|
rs536080941
|
0.00001
|
NM_001035.3(RYR2):c.3823G>A (p.Gly1275Ser)
|
rs769294223
|
0.00001
|
NM_001035.3(RYR2):c.3898A>C (p.Met1300Leu)
|
rs769384124
|
0.00001
|
NM_001035.3(RYR2):c.4250A>G (p.Tyr1417Cys)
|
rs777557037
|
0.00001
|
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=)
|
rs886046270
|
0.00001
|
NM_001035.3(RYR2):c.625C>G (p.Gln209Glu)
|
rs749414350
|
0.00001
|
NM_001035.3(RYR2):c.6688+13C>A
|
rs1262322008
|
0.00001
|
NM_001035.3(RYR2):c.7528A>G (p.Thr2510Ala)
|
rs777279244
|
0.00001
|
NM_001035.3(RYR2):c.849-10T>C
|
rs771173251
|
0.00001
|
NM_001035.3(RYR2):c.8493T>C (p.Val2831=)
|
rs755660659
|
0.00001
|
NM_001035.3(RYR2):c.9338G>A (p.Gly3113Asp)
|
rs770278770
|
0.00001
|
NM_001035.3(RYR2):c.9646G>A (p.Glu3216Lys)
|
rs760965671
|
0.00001
|
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=)
|
rs184937795
|
0.00001
|
NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met)
|
rs774437805
|
0.00001
|
NM_001943.4(DSG2):c.-144G>A
|
rs1478833586
|
0.00001
|
NM_001943.4(DSG2):c.-178G>A
|
rs1367107745
|
0.00001
|
NM_001943.5(DSG2):c.*599_*600del
|
rs1491095224
|
0.00001
|
NM_001943.5(DSG2):c.*666G>T
|
rs1475926412
|
0.00001
|
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr)
|
rs758537946
|
0.00001
|
NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser)
|
rs540113579
|
0.00001
|
NM_001943.5(DSG2):c.1479C>T (p.Asn493=)
|
rs778100657
|
0.00001
|
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly)
|
rs730880077
|
0.00001
|
NM_001943.5(DSG2):c.164C>T (p.Pro55Leu)
|
rs748684045
|
0.00001
|
NM_001943.5(DSG2):c.1758T>C (p.Leu586=)
|
rs773812422
|
0.00001
|
NM_001943.5(DSG2):c.2335-9T>C
|
rs757355636
|
0.00001
|
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)
|
rs772744115
|
0.00001
|
NM_001943.5(DSG2):c.2802A>G (p.Ile934Met)
|
rs368584610
|
0.00001
|
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr)
|
rs886053716
|
0.00001
|
NM_001943.5(DSG2):c.447T>C (p.Val149=)
|
rs1389484271
|
0.00001
|
NM_001943.5(DSG2):c.562G>A (p.Glu188Lys)
|
rs763948986
|
0.00001
|
NM_001943.5(DSG2):c.677C>T (p.Thr226Ile)
|
rs751490881
|
0.00001
|
NM_001943.5(DSG2):c.990C>T (p.Asn330=)
|
rs140575919
|
0.00001
|
NM_002230.4(JUP):c.*436G>A
|
rs886052915
|
0.00001
|
NM_002230.4(JUP):c.100G>A (p.Val34Met)
|
rs794729029
|
0.00001
|
NM_002230.4(JUP):c.1347C>T (p.Asp449=)
|
rs763261901
|
0.00001
|
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys)
|
rs782309611
|
0.00001
|
NM_002230.4(JUP):c.1815C>T (p.Ala605=)
|
rs543862977
|
0.00001
|
NM_002230.4(JUP):c.1854C>T (p.Ala618=)
|
rs782176670
|
0.00001
|
NM_002230.4(JUP):c.192G>A (p.Gly64=)
|
rs141237794
|
0.00001
|
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly)
|
rs781859850
|
0.00001
|
NM_002230.4(JUP):c.2087-5C>T
|
rs886052917
|
0.00001
|
NM_002230.4(JUP):c.424C>T (p.Arg142Cys)
|
rs199591001
|
0.00001
|
NM_002230.4(JUP):c.469-12T>C
|
rs782699765
|
0.00001
|
NM_002230.4(JUP):c.534C>T (p.Ala178=)
|
rs1916171269
|
0.00001
|
NM_002230.4(JUP):c.708-12C>G
|
rs781970079
|
0.00001
|
NM_002230.4(JUP):c.818T>C (p.Met273Thr)
|
rs782091454
|
0.00001
|
NM_002230.4(JUP):c.967A>G (p.Ser323Gly)
|
rs781857323
|
0.00001
|
NM_004415.4(DSP):c.*112A>G
|
rs141059005
|
0.00001
|
NM_004415.4(DSP):c.*137T>C
|
rs756543548
|
0.00001
|
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys)
|
rs781084693
|
0.00001
|
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala)
|
rs748790273
|
0.00001
|
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe)
|
rs1363445022
|
0.00001
|
NM_004415.4(DSP):c.2131-5G>C
|
rs767939332
|
0.00001
|
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro)
|
rs935504136
|
0.00001
|
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys)
|
rs755067397
|
0.00001
|
NM_004415.4(DSP):c.2878-4G>A
|
rs758303966
|
0.00001
|
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe)
|
rs746346559
|
0.00001
|
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)
|
rs762238621
|
0.00001
|
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys)
|
rs751566392
|
0.00001
|
NM_004415.4(DSP):c.4671G>A (p.Thr1557=)
|
rs367767551
|
0.00001
|
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)
|
rs757753880
|
0.00001
|
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg)
|
rs377344768
|
0.00001
|
NM_004415.4(DSP):c.5217C>T (p.Ser1739=)
|
rs748263306
|
0.00001
|
NM_004415.4(DSP):c.5283C>T (p.Asn1761=)
|
rs763355815
|
0.00001
|
NM_004415.4(DSP):c.5649G>A (p.Ser1883=)
|
rs760974941
|
0.00001
|
NM_004415.4(DSP):c.5820T>C (p.Asp1940=)
|
rs763026647
|
0.00001
|
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)
|
rs557263443
|
0.00001
|
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr)
|
rs777901747
|
0.00001
|
NM_004415.4(DSP):c.7551G>A (p.Val2517=)
|
rs754127386
|
0.00001
|
NM_004415.4(DSP):c.7767A>G (p.Ser2589=)
|
rs755928079
|
0.00001
|
NM_004415.4(DSP):c.8217G>A (p.Pro2739=)
|
rs755508926
|
0.00001
|
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr)
|
rs991726607
|
0.00001
|
NM_004415.4(DSP):c.8529T>C (p.Ser2843=)
|
rs780005300
|
0.00001
|
NM_004415.4(DSP):c.9C>T (p.Cys3=)
|
rs769032973
|
0.00001
|
NM_004572.3(PKP2):c.-51C>T
|
rs886049326
|
0.00001
|
NM_004572.3(PKP2):c.-66G>C
|
rs1157974448
|
0.00001
|
NM_024334.3(TMEM43):c.275T>C (p.Ile92Thr)
|
rs555913548
|
0.00001
|
NM_024422.6(DSC2):c.*1401C>T
|
rs886053685
|
0.00001
|
NM_024422.6(DSC2):c.-132C>A
|
rs886053698
|
0.00001
|
NM_024422.6(DSC2):c.-381G>C
|
rs886053701
|
0.00001
|
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu)
|
rs899009158
|
0.00001
|
NM_024422.6(DSC2):c.1910A>G (p.Tyr637Cys)
|
rs758990451
|
0.00001
|
NM_024422.6(DSC2):c.1971C>A (p.Gly657=)
|
rs397517396
|
0.00001
|
NM_024422.6(DSC2):c.2126-11T>C
|
rs1283105269
|
0.00001
|
NM_024422.6(DSC2):c.2430G>A (p.Arg810=)
|
rs755276378
|
0.00001
|
NM_024422.6(DSC2):c.2446G>A (p.Val816Met)
|
rs377700521
|
0.00001
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu)
|
rs766855728
|
0.00001
|
NM_001005242.3(PKP2):c.*1023C>T
|
rs886049309
|
|
NM_001005242.3(PKP2):c.*1048G>T
|
rs886049308
|
|
NM_001005242.3(PKP2):c.*1159A>T
|
rs886049307
|
|
NM_001005242.3(PKP2):c.*1527G>A
|
rs1238128272
|
|
NM_001005242.3(PKP2):c.*1602A>G
|
rs760973876
|
|
NM_001005242.3(PKP2):c.*180C>G
|
rs886049319
|
|
NM_001005242.3(PKP2):c.*252A>G
|
rs886049316
|
|
NM_001005242.3(PKP2):c.*320C>A
|
rs886049315
|
|
NM_001005242.3(PKP2):c.*400A>G
|
rs529644235
|
|
NM_001005242.3(PKP2):c.*429A>T
|
rs1956071585
|
|
NM_001005242.3(PKP2):c.*579C>A
|
rs886049314
|
|
NM_001005242.3(PKP2):c.*753C>G
|
rs886049313
|
|
NM_001005242.3(PKP2):c.*910C>A
|
rs886049312
|
|
NM_001005242.3(PKP2):c.*953C>A
|
rs886049311
|
|
NM_001005242.3(PKP2):c.*962C>A
|
rs886049310
|
|
NM_001005242.3(PKP2):c.-15G>T
|
rs886049325
|
|
NM_001005242.3(PKP2):c.1073G>A (p.Ser358Asn)
|
rs1215591759
|
|
NM_001005242.3(PKP2):c.1180C>T (p.Leu394Phe)
|
rs886049321
|
|
NM_001005242.3(PKP2):c.1189A>G (p.Ile397Val)
|
rs1956691539
|
|
NM_001005242.3(PKP2):c.1379-2027A>G
|
rs778247181
|
|
NM_001005242.3(PKP2):c.1602A>T (p.Arg534Ser)
|
rs1956409909
|
|
NM_001005242.3(PKP2):c.1675-3C>T
|
rs1592737932
|
|
NM_001005242.3(PKP2):c.187A>C (p.Thr63Pro)
|
rs886049324
|
|
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=)
|
rs377504106
|
|
NM_001005242.3(PKP2):c.2190G>A (p.Leu730=)
|
rs886049320
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
NM_001005242.3(PKP2):c.2445+11G>T
|
rs1356336963
|
|
NM_001005242.3(PKP2):c.2504T>G (p.Leu835Arg)
|
rs775572104
|
|
NM_001005242.3(PKP2):c.38T>A (p.Ile13Asn)
|
rs775889367
|
|
NM_001005242.3(PKP2):c.470A>T (p.Glu157Val)
|
rs886049323
|
|
NM_001005242.3(PKP2):c.489C>T (p.His163=)
|
rs771398047
|
|
NM_001035.3(RYR2):c.*1023G>T
|
rs886046304
|
|
NM_001035.3(RYR2):c.*1065A>G
|
rs886046305
|
|
NM_001035.3(RYR2):c.*1070G>T
|
rs886046306
|
|
NM_001035.3(RYR2):c.*167_*168dup
|
rs886046284
|
|
NM_001035.3(RYR2):c.*187C>A
|
rs886046285
|
|
NM_001035.3(RYR2):c.*206C>A
|
rs886046286
|
|
NM_001035.3(RYR2):c.*272C>A
|
rs886046287
|
|
NM_001035.3(RYR2):c.*354A>G
|
rs886046289
|
|
NM_001035.3(RYR2):c.*378C>A
|
rs886046290
|
|
NM_001035.3(RYR2):c.*379T>G
|
rs886046291
|
|
NM_001035.3(RYR2):c.*578del
|
rs113047070
|
|
NM_001035.3(RYR2):c.*578dup
|
rs113047070
|
|
NM_001035.3(RYR2):c.*642A>C
|
rs886046297
|
|
NM_001035.3(RYR2):c.*646dup
|
rs377407067
|
|
NM_001035.3(RYR2):c.*711C>G
|
rs544493822
|
|
NM_001035.3(RYR2):c.*712C>G
|
rs886046300
|
|
NM_001035.3(RYR2):c.*713C>G
|
rs886046301
|
|
NM_001035.3(RYR2):c.*715_*716insGC
|
rs886046302
|
|
NM_001035.3(RYR2):c.*716del
|
rs397983403
|
|
NM_001035.3(RYR2):c.*716dup
|
rs397983403
|
|
NM_001035.3(RYR2):c.*717G>C
|
rs867345276
|
|
NM_001035.3(RYR2):c.*717GCCCCC[1]
|
rs886046299
|
|
NM_001035.3(RYR2):c.*723G>C
|
rs1348404826
|
|
NM_001035.3(RYR2):c.*79C>A
|
rs886046282
|
|
NM_001035.3(RYR2):c.*84del
|
rs764277833
|
|
NM_001035.3(RYR2):c.-20C>A
|
rs778527185
|
|
NM_001035.3(RYR2):c.-27C>A
|
rs886046260
|
|
NM_001035.3(RYR2):c.10323+13dup
|
rs886046276
|
|
NM_001035.3(RYR2):c.10414C>T (p.Arg3472Trp)
|
rs1689344988
|
|
NM_001035.3(RYR2):c.10853A>G (p.Asn3618Ser)
|
rs1690559112
|
|
NM_001035.3(RYR2):c.11091+11A>G
|
rs1690899283
|
|
NM_001035.3(RYR2):c.11427G>A (p.Glu3809=)
|
rs553350678
|
|
NM_001035.3(RYR2):c.11754C>A (p.Asn3918Lys)
|
rs886046278
|
|
NM_001035.3(RYR2):c.12712A>G (p.Ile4238Val)
|
rs1695382742
|
|
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp)
|
rs371680410
|
|
NM_001035.3(RYR2):c.13598T>C (p.Leu4533Pro)
|
rs761272973
|
|
NM_001035.3(RYR2):c.14325T>C (p.Ala4775=)
|
rs1660960345
|
|
NM_001035.3(RYR2):c.14692T>A (p.Phe4898Ile)
|
rs886046280
|
|
NM_001035.3(RYR2):c.1612+10A>G
|
rs886046262
|
|
NM_001035.3(RYR2):c.1712T>A (p.Ile571Asn)
|
rs886046263
|
|
NM_001035.3(RYR2):c.1945G>T (p.Val649Leu)
|
rs1663593146
|
|
NM_001035.3(RYR2):c.2117A>G (p.Tyr706Cys)
|
rs1664107169
|
|
NM_001035.3(RYR2):c.2204-10C>A
|
rs886046264
|
|
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=)
|
rs575899061
|
|
NM_001035.3(RYR2):c.2930A>T (p.Lys977Met)
|
rs1670046069
|
|
NM_001035.3(RYR2):c.2964C>T (p.Leu988=)
|
rs202085370
|
|
NM_001035.3(RYR2):c.3358C>T (p.Pro1120Ser)
|
rs1331533259
|
|
NM_001035.3(RYR2):c.3496G>A (p.Val1166Ile)
|
rs886046266
|
|
NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr)
|
rs769729405
|
|
NM_001035.3(RYR2):c.4382G>C (p.Arg1461Thr)
|
rs1675476561
|
|
NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val)
|
rs955021407
|
|
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)
|
rs201880756
|
|
NM_001035.3(RYR2):c.4920C>A (p.Asp1640Glu)
|
rs886046267
|
|
NM_001035.3(RYR2):c.4941G>A (p.Gln1647=)
|
rs727504997
|
|
NM_001035.3(RYR2):c.5078A>G (p.Tyr1693Cys)
|
rs886046268
|
|
NM_001035.3(RYR2):c.5154G>C (p.Arg1718Ser)
|
rs114534505
|
|
NM_001035.3(RYR2):c.5220T>G (p.Pro1740=)
|
rs886046269
|
|
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln)
|
rs869025511
|
|
NM_001035.3(RYR2):c.595G>A (p.Gly199Ser)
|
rs886046261
|
|
NM_001035.3(RYR2):c.6216G>A (p.Glu2072=)
|
rs886046271
|
|
NM_001035.3(RYR2):c.6689-3T>A
|
rs886046272
|
|
NM_001035.3(RYR2):c.6773G>C (p.Arg2258Pro)
|
rs779289104
|
|
NM_001035.3(RYR2):c.7035A>T (p.Ala2345=)
|
rs1681182291
|
|
NM_001035.3(RYR2):c.7227T>C (p.Ile2409=)
|
rs1681768739
|
|
NM_001035.3(RYR2):c.7233C>A (p.Ala2411=)
|
rs367994477
|
|
NM_001035.3(RYR2):c.7330A>G (p.Thr2444Ala)
|
rs1681783995
|
|
NM_001035.3(RYR2):c.7477C>G (p.Leu2493Val)
|
rs886046273
|
|
NM_001035.3(RYR2):c.7599T>C (p.Pro2533=)
|
rs886046274
|
|
NM_001035.3(RYR2):c.7634T>C (p.Ile2545Thr)
|
rs758415895
|
|
NM_001035.3(RYR2):c.7897G>A (p.Ala2633Thr)
|
rs1683042825
|
|
NM_001035.3(RYR2):c.8332T>C (p.Ser2778Pro)
|
rs1573391679
|
|
NM_001035.3(RYR2):c.8508C>T (p.Asp2836=)
|
rs757197730
|
|
NM_001035.3(RYR2):c.8759G>T (p.Arg2920Leu)
|
rs756302327
|
|
NM_001035.3(RYR2):c.9129-7T>C
|
rs1466669135
|
|
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)
|
rs2797436
|
|
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met)
|
rs762549821
|
|
NM_001035.3(RYR2):c.9877G>A (p.Gly3293Arg)
|
rs886046275
|
|
NM_001943.4(DSG2):c.-135A>T
|
rs886053709
|
|
NM_001943.4(DSG2):c.-153dup
|
rs886053708
|
|
NM_001943.5(DSG2):c.*1012C>T
|
rs886053733
|
|
NM_001943.5(DSG2):c.*1264G>C
|
rs115099821
|
|
NM_001943.5(DSG2):c.*1450G>A
|
rs886053734
|
|
NM_001943.5(DSG2):c.*1473G>T
|
rs886053735
|
|
NM_001943.5(DSG2):c.*159G>A
|
rs886053719
|
|
NM_001943.5(DSG2):c.*1652T>G
|
rs886053736
|
|
NM_001943.5(DSG2):c.*1786G>T
|
rs886053737
|
|
NM_001943.5(DSG2):c.*1982A>C
|
rs1302003146
|
|
NM_001943.5(DSG2):c.*25del
|
rs886053717
|
|
NM_001943.5(DSG2):c.*351C>A
|
rs886053720
|
|
NM_001943.5(DSG2):c.*419G>T
|
rs552933757
|
|
NM_001943.5(DSG2):c.*755G>A
|
rs886053725
|
|
NM_001943.5(DSG2):c.*788G>C
|
rs886053726
|
|
NM_001943.5(DSG2):c.*874C>T
|
rs886053728
|
|
NM_001943.5(DSG2):c.*932_*933insA
|
rs886053730
|
|
NM_001943.5(DSG2):c.*944del
|
rs368604939
|
|
NM_001943.5(DSG2):c.*96C>G
|
rs886053718
|
|
NM_001943.5(DSG2):c.-44C>A
|
rs886053710
|
|
NM_001943.5(DSG2):c.-4T>G
|
rs886053711
|
|
NM_001943.5(DSG2):c.1031A>T (p.Glu344Val)
|
rs886053713
|
|
NM_001943.5(DSG2):c.1280+4AG[3]
|
rs876657791
|
|
NM_001943.5(DSG2):c.1331C>T (p.Thr444Ile)
|
rs2073222443
|
|
NM_001943.5(DSG2):c.1447G>A (p.Gly483Ser)
|
rs886053714
|
|
NM_001943.5(DSG2):c.1583C>G (p.Pro528Arg)
|
rs1023084089
|
|
NM_001943.5(DSG2):c.1648G>A (p.Glu550Lys)
|
rs972736246
|
|
NM_001943.5(DSG2):c.182G>T (p.Gly61Val)
|
rs779224655
|
|
NM_001943.5(DSG2):c.1863C>G (p.Ala621=)
|
rs768150787
|
|
NM_001943.5(DSG2):c.1879+8T>C
|
rs2073249877
|
|
NM_001943.5(DSG2):c.1932T>C (p.Phe644=)
|
rs2073265410
|
|
NM_001943.5(DSG2):c.2019G>C (p.Leu673=)
|
rs886053715
|
|
NM_001943.5(DSG2):c.2178T>C (p.Ser726=)
|
rs749897373
|
|
NM_001943.5(DSG2):c.2643C>A (p.Thr881=)
|
rs180695545
|
|
NM_001943.5(DSG2):c.45+10G>T
|
rs776975980
|
|
NM_001943.5(DSG2):c.828+10A>C
|
rs886053712
|
|
NM_001943.5(DSG2):c.828+13C>A
|
rs180926981
|
|
NM_001943.5(DSG2):c.968T>G (p.Ile323Arg)
|
rs370140174
|
|
NM_002230.4(JUP):c.*1014C>T
|
rs1292357653
|
|
NM_002230.4(JUP):c.*1026G>A
|
rs187950810
|
|
NM_002230.4(JUP):c.*18C>T
|
rs200222165
|
|
NM_002230.4(JUP):c.*409C>G
|
rs1025065671
|
|
NM_002230.4(JUP):c.*497A>T
|
rs1913504384
|
|
NM_002230.4(JUP):c.*593C>T
|
rs1913479153
|
|
NM_002230.4(JUP):c.1587A>G (p.Gln529=)
|
rs886052919
|
|
NM_002230.4(JUP):c.1617G>A (p.Gln539=)
|
rs1012247750
|
|
NM_002230.4(JUP):c.1705A>C (p.Ile569Leu)
|
rs370101446
|
|
NM_002230.4(JUP):c.1718A>T (p.Asp573Val)
|
rs886052918
|
|
NM_002230.4(JUP):c.1824G>A (p.Leu608=)
|
rs376043057
|
|
NM_002230.4(JUP):c.2232G>A (p.Leu744=)
|
rs1913590161
|
|
NM_002230.4(JUP):c.375G>C (p.Ser125=)
|
rs111344340
|
|
NM_002230.4(JUP):c.519G>A (p.Glu173=)
|
rs1916176553
|
|
NM_002230.4(JUP):c.909+6C>T
|
rs193922705
|
|
NM_002230.4(JUP):c.931G>A (p.Gly311Arg)
|
rs1915488679
|
|
NM_002230.4(JUP):c.973G>A (p.Glu325Lys)
|
rs781974007
|
|
NM_003239.5(TGFB3):c.-440CTT[2]
|
rs774422953
|
|
NM_003239.5(TGFB3):c.-536del
|
rs71451199
|
|
NM_003239.5(TGFB3):c.-536dup
|
rs71451199
|
|
NM_004415.3(DSP):c.-260A>G
|
rs886061738
|
|
NM_004415.4(DSP):c.*203A>G
|
rs1198624922
|
|
NM_004415.4(DSP):c.*300C>A
|
rs886061750
|
|
NM_004415.4(DSP):c.*305C>A
|
rs886061751
|
|
NM_004415.4(DSP):c.*325A>G
|
rs1759669252
|
|
NM_004415.4(DSP):c.*384C>A
|
rs886061753
|
|
NM_004415.4(DSP):c.*386G>T
|
rs886061754
|
|
NM_004415.4(DSP):c.*43T>A
|
rs373414877
|
|
NM_004415.4(DSP):c.*598G>T
|
rs886061756
|
|
NM_004415.4(DSP):c.*681C>A
|
rs886061757
|
|
NM_004415.4(DSP):c.*762G>T
|
rs1759684939
|
|
NM_004415.4(DSP):c.-104G>A
|
rs1757981061
|
|
NM_004415.4(DSP):c.-179T>C
|
rs886061741
|
|
NM_004415.4(DSP):c.-190G>T
|
rs886061740
|
|
NM_004415.4(DSP):c.-228C>A
|
rs886061739
|
|
NM_004415.4(DSP):c.-36C>A
|
rs886061743
|
|
NM_004415.4(DSP):c.-70C>T
|
rs1757982573
|
|
NM_004415.4(DSP):c.-76C>T
|
rs377133467
|
|
NM_004415.4(DSP):c.1382T>C (p.Ile461Thr)
|
rs1554106853
|
|
NM_004415.4(DSP):c.1848G>A (p.Gln616=)
|
rs1215425090
|
|
NM_004415.4(DSP):c.2259G>A (p.Leu753=)
|
rs1759156637
|
|
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn)
|
rs770105310
|
|
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile)
|
rs1759210367
|
|
NM_004415.4(DSP):c.2719C>A (p.Arg907Ser)
|
rs749051278
|
|
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile)
|
rs755099716
|
|
NM_004415.4(DSP):c.3389A>G (p.Asp1130Gly)
|
rs886061746
|
|
NM_004415.4(DSP):c.3423A>C (p.Gln1141His)
|
rs759288257
|
|
NM_004415.4(DSP):c.36C>T (p.Asn12=)
|
rs886061744
|
|
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser)
|
rs1561697968
|
|
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp)
|
rs569786610
|
|
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg)
|
rs796530013
|
|
NM_004415.4(DSP):c.4857G>C (p.Leu1619=)
|
rs373385083
|
|
NM_004415.4(DSP):c.5064G>A (p.Ala1688=)
|
rs886061747
|
|
NM_004415.4(DSP):c.5391G>A (p.Arg1797=)
|
rs778745098
|
|
NM_004415.4(DSP):c.5544G>A (p.Arg1848=)
|
rs727503004
|
|
NM_004415.4(DSP):c.6358A>G (p.Thr2120Ala)
|
rs1759528776
|
|
NM_004415.4(DSP):c.718G>C (p.Ala240Pro)
|
rs1758741133
|
|
NM_004415.4(DSP):c.727-11T>C
|
rs886061745
|
|
NM_004415.4(DSP):c.7557G>A (p.Leu2519=)
|
rs397516957
|
|
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn)
|
rs199597935
|
|
NM_004415.4(DSP):c.8199G>A (p.Thr2733=)
|
rs145085696
|
|
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile)
|
rs34884895
|
|
NM_004415.4(DSP):c.913A>G (p.Ile305Val)
|
rs17604693
|
|
NM_004572.3(PKP2):c.-70C>T
|
rs886049327
|
|
NM_004572.3(PKP2):c.-79G>T
|
rs886049328
|
|
NM_004572.3(PKP2):c.-97_-93dup
|
rs886049329
|
|
NM_024334.3(TMEM43):c.*1080G>T
|
rs886058035
|
|
NM_024334.3(TMEM43):c.*1161C>A
|
rs886058036
|
|
NM_024334.3(TMEM43):c.*1352_*1357del
|
rs71699966
|
|
NM_024334.3(TMEM43):c.*1535T>C
|
rs886058038
|
|
NM_024334.3(TMEM43):c.*1584G>T
|
rs886058039
|
|
NM_024334.3(TMEM43):c.*1642T>G
|
rs886058040
|
|
NM_024334.3(TMEM43):c.*1677dup
|
rs886058041
|
|
NM_024334.3(TMEM43):c.*1700G>T
|
rs886058042
|
|
NM_024334.3(TMEM43):c.*270T>C
|
rs886058032
|
|
NM_024334.3(TMEM43):c.346C>A (p.Arg116=)
|
rs752588115
|
|
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn)
|
rs570799464
|
|
NM_024422.6(DSC2):c.*1003T>C
|
rs1986642855
|
|
NM_024422.6(DSC2):c.*1126G>T
|
rs886053687
|
|
NM_024422.6(DSC2):c.*1183G>A
|
rs886053686
|
|
NM_024422.6(DSC2):c.*1453C>T
|
rs886053683
|
|
NM_024422.6(DSC2):c.*1700T>C
|
rs1986617619
|
|
NM_024422.6(DSC2):c.*1877T>G
|
rs1986611103
|
|
NM_024422.6(DSC2):c.*1923C>A
|
rs886053682
|
|
NM_024422.6(DSC2):c.*422C>T
|
rs769685892
|
|
NM_024422.6(DSC2):c.*640G>T
|
rs886053691
|
|
NM_024422.6(DSC2):c.*692A>G
|
rs1986657464
|
|
NM_024422.6(DSC2):c.*705G>A
|
rs372988931
|
|
NM_024422.6(DSC2):c.*709CT[3]
|
rs886053690
|
|
NM_024422.6(DSC2):c.*764dup
|
rs796836744
|
|
NM_024422.6(DSC2):c.*798T>C
|
rs1208729636
|
|
NM_024422.6(DSC2):c.*833G>C
|
rs886053689
|
|
NM_024422.6(DSC2):c.*926G>A
|
rs1188292553
|
|
NM_024422.6(DSC2):c.*934C>A
|
rs886053688
|
|
NM_024422.6(DSC2):c.-20A>C
|
rs886053696
|
|
NM_024422.6(DSC2):c.-277T>A
|
rs1567987522
|
|
NM_024422.6(DSC2):c.-365T>A
|
rs775956339
|
|
NM_024422.6(DSC2):c.-392G>A
|
rs886053702
|
|
NM_024422.6(DSC2):c.-409C>T
|
rs1309020903
|
|
NM_024422.6(DSC2):c.-424G>T
|
rs555722283
|
|
NM_024422.6(DSC2):c.-42C>T
|
rs886053697
|
|
NM_024422.6(DSC2):c.-95C>G
|
rs1386005114
|
|
NM_024422.6(DSC2):c.1077+9A>G
|
rs369381870
|
|
NM_024422.6(DSC2):c.1591A>G (p.Arg531Gly)
|
rs727502981
|
|
NM_024422.6(DSC2):c.1661A>G (p.Gln554Arg)
|
rs1987145211
|
|
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys)
|
rs759513934
|
|
NM_024422.6(DSC2):c.2198C>T (p.Ala733Val)
|
rs886053695
|
|
NM_024422.6(DSC2):c.2205G>T (p.Gln735His)
|
rs886053694
|
|
NM_024422.6(DSC2):c.2319A>T (p.Gly773=)
|
rs1986736902
|
|
NM_024422.6(DSC2):c.2367A>T (p.Gly789=)
|
rs886053693
|
|
NM_024422.6(DSC2):c.2398G>T (p.Ala800Ser)
|
rs565136635
|
|
NM_024422.6(DSC2):c.346C>G (p.Gln116Glu)
|
rs1987619959
|
|
NM_024422.6(DSC2):c.370C>T (p.His124Tyr)
|
rs371443698
|
|
NM_024422.6(DSC2):c.475-13A>G
|
rs751631188
|
|
NM_024422.6(DSC2):c.588T>C (p.Tyr196=)
|
rs1987518239
|
|
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del)
|
rs776784065
|
|