NM_024334.3(TMEM43):c.*115T>C
|
rs1043943
|
0.65275
|
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)
|
rs2228001
|
0.64910
|
NM_004572.3(PKP2):c.-116C>T
|
rs187291890
|
0.48955
|
NM_004628.5(XPC):c.*96C>G
|
rs2229090
|
0.22357
|
NM_001005242.3(PKP2):c.2357+13_2357+14insC
|
rs149968852
|
0.19813
|
NM_024334.3(TMEM43):c.*779A>C
|
rs13069
|
0.19544
|
NM_024334.3(TMEM43):c.*1424T>C
|
rs10468
|
0.19535
|
NM_004628.5(XPC):c.*618A>G
|
rs2470458
|
0.16965
|
NM_024334.3(TMEM43):c.*1374T>C
|
rs8516
|
0.16859
|
NM_024334.3(TMEM43):c.*463A>G
|
rs1043953
|
0.15711
|
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser)
|
rs3766871
|
0.06110
|
NM_024334.3(TMEM43):c.*719G>T
|
rs3796308
|
0.05531
|
NM_003239.5(TGFB3):c.-614C>T
|
rs11466414
|
0.04715
|
NM_024334.3(TMEM43):c.*312A>C
|
rs11920099
|
0.04223
|
NM_024334.3(TMEM43):c.*277C>T
|
rs11943
|
0.03059
|
NM_001035.3(RYR2):c.8437-7dup
|
rs148246251
|
0.02544
|
NM_024334.3(TMEM43):c.*924T>C
|
rs79741000
|
0.02523
|
NM_024334.3(TMEM43):c.*217G>A
|
rs116757981
|
0.02517
|
NM_004415.4(DSP):c.*276_*278del
|
rs144440643
|
0.01744
|
NM_003239.5(TGFB3):c.-543T>A
|
rs74448762
|
0.01331
|
NM_024334.3(TMEM43):c.*1160A>G
|
rs9842062
|
0.01099
|
NM_004628.5(XPC):c.*192T>C
|
rs3731178
|
0.01085
|
NM_001035.3(RYR2):c.11880+13_11880+16del
|
rs199562036
|
0.01032
|
NM_004415.4(DSP):c.2673T>C (p.Tyr891=)
|
rs146407262
|
0.00703
|
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn)
|
rs34884895
|
0.00701
|
NM_001005242.3(PKP2):c.*48dup
|
rs369140281
|
0.00677
|
NM_001035.3(RYR2):c.9867G>A (p.Gly3289=)
|
rs190537182
|
0.00281
|
NM_001035.3(RYR2):c.4989C>T (p.Ala1663=)
|
rs147060179
|
0.00220
|
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)
|
rs142429411
|
0.00214
|
NM_004415.4(DSP):c.7734C>T (p.Ser2578=)
|
rs28763970
|
0.00087
|
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)
|
rs184154918
|
0.00037
|
NM_004415.4(DSP):c.1154C>T (p.Ala385Val)
|
rs146737031
|
0.00027
|
NM_004415.3(DSP):c.-281C>T
|
rs547069600
|
0.00014
|
NM_004415.4(DSP):c.5304G>C (p.Gly1768=)
|
rs530612211
|
0.00010
|
NM_004415.4(DSP):c.7548G>A (p.Arg2516=)
|
rs756527780
|
0.00006
|
NM_004628.5(XPC):c.2421-11T>C
|
rs3731167
|
0.00005
|
NM_004415.4(DSP):c.4752G>A (p.Ala1584=)
|
rs201213622
|
0.00004
|
NM_004628.5(XPC):c.*133G>A
|
rs377250919
|
0.00004
|
NM_001005242.3(PKP2):c.*1199del
|
rs11476598
|
|
NM_001005242.3(PKP2):c.*1311del
|
rs3833501
|
|
NM_001005242.3(PKP2):c.*578_*583dup
|
rs137947383
|
|
NM_001035.3(RYR2):c.*646del
|
rs377407067
|
|
NM_001035.3(RYR2):c.*890_*893dup
|
rs10667874
|
|
NM_001035.3(RYR2):c.4597-11del
|
rs3841805
|
|
NM_001943.5(DSG2):c.*1714_*1715dup
|
rs10645928
|
|
NM_001943.5(DSG2):c.*601TG[7]
|
rs36022761
|
|
NM_001943.5(DSG2):c.*944dup
|
rs368604939
|
|
NM_001943.5(DSG2):c.*960dup
|
rs200149790
|
|
NM_004628.5(XPC):c.*397_*400del
|
rs3731180
|
|
NM_004628.5(XPC):c.*611T>A
|
rs2470352
|
|
NM_004628.5(XPC):c.*684G>C
|
rs1126547
|
|
NM_024334.3(TMEM43):c.*766CAAAA[1]
|
rs141474582
|
|
NM_024422.6(DSC2):c.*764del
|
rs796836744
|
|
NM_024422.6(DSC2):c.942+13_942+15dup
|
rs5823783
|
|