NM_001105206.3(LAMA4):c.849= (p.Asp283=)
|
rs9387061
|
0.99999
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_024422.6(DSC2):c.-298C>T
|
rs149977713
|
0.01170
|
NM_024422.6(DSC2):c.-408T>C
|
rs188926948
|
0.00141
|
NM_003476.5(CSRP3):c.*12G>A
|
rs45607943
|
0.00108
|
NM_003476.4(CSRP3):c.-74A>C
|
rs45498797
|
0.00092
|
NM_001943.5(DSG2):c.*2C>T
|
rs183494886
|
0.00054
|
NM_001105206.3(LAMA4):c.*1C>T
|
rs148811960
|
0.00048
|
NM_000337.5(SGCD):c.-352T>C
|
rs727503419
|
0.00043
|
NM_002294.3(LAMP2):c.*15T>C
|
rs376806600
|
0.00042
|
NM_001035.3(RYR2):c.3067-16_3067-15del
|
rs727504453
|
0.00031
|
NM_001018005.2(TPM1):c.851+6C>T
|
rs375043184
|
0.00029
|
NM_005343.4(HRAS):c.450+171C>T
|
rs376091236
|
0.00025
|
NR_029615.1(MIR183):n.105C>A
|
rs563046665
|
0.00019
|
NM_000337.5(SGCD):c.-404G>A
|
rs192662989
|
0.00016
|
NM_005379.4(MYO1A):c.-11C>T
|
rs560209125
|
0.00016
|
NM_000169.3(GLA):c.-8C>G
|
rs371291716
|
0.00014
|
NM_000337.5(SGCD):c.-378G>T
|
rs531296131
|
0.00013
|
NM_000337.6(SGCD):c.-59G>A
|
rs375477247
|
0.00008
|
NM_000258.3(MYL3):c.*9C>T
|
rs202234617
|
0.00006
|
NM_000337.6(SGCD):c.-44+11G>A
|
rs184722381
|
0.00006
|
NM_001080476.3(GRXCR1):c.*13C>G
|
rs368464416
|
0.00006
|
NM_020297.4(ABCC9):c.-11T>C
|
rs72559432
|
0.00004
|
NM_170707.4(LMNA):c.1698+25C>T
|
rs727504435
|
0.00004
|
NM_000337.6(SGCD):c.-44G>T
|
rs727503420
|
0.00003
|
NM_016203.4(PRKAG2):c.*2C>T
|
rs199559205
|
0.00003
|
NM_033337.3(CAV3):c.-15C>A
|
rs569240109
|
0.00003
|
NM_006393.3(NEBL):c.*4T>A
|
rs727504947
|
0.00002
|
NM_000337.6(SGCD):c.-41A>T
|
rs369889635
|
0.00001
|
NM_000492.4(CFTR):c.1680-981T>C
|
rs727502937
|
0.00001
|
NM_001943.5(DSG2):c.-15G>A
|
rs727502982
|
0.00001
|
NM_005228.5(EGFR):c.2327G>A (p.Arg776His)
|
rs483352806
|
0.00001
|
NM_024422.6(DSC2):c.-302C>T
|
rs727504919
|
0.00001
|
NM_000138.5(FBN1):c.1415= (p.Tyr472=)
|
rs113936729
|
|
NM_000138.5(FBN1):c.5066-14dup
|
rs3833018
|
|
NM_000179.3(MSH6):c.*24_*28del
|
rs587779200
|
|
NM_000337.5(SGCD):c.-148_-122del27
|
rs727504478
|
|
NM_000337.6(SGCD):c.383-33CTCTCTAT[2]
|
rs727504998
|
|
NM_000492.4(CFTR):c.1680-871_1680-870delinsGA
|
rs727504811
|
|
NM_000601.6(HGF):c.865+410dup
|
rs534250947
|
|
NM_001035.3(RYR2):c.14152-16dup
|
rs727503406
|
|
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs)
|
rs59030801
|
|
NM_001105206.3(LAMA4):c.848_849= (p.Asp283=)
|
rs71543223
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[5]
|
rs71393436
|
|
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr)
|
rs72650057
|
|
NM_001292063.2(OTOG):c.-14_-13delinsGA
|
rs876657677
|
|
NM_001384474.1(LOXHD1):c.512-19TC[3]
|
rs876657676
|
|
NM_001943.5(DSG2):c.-11G>A
|
rs727504450
|
|
NM_002471.4(MYH6):c.3979-8del
|
rs193922652
|
|
NM_002471.4(MYH6):c.3979-8dup
|
rs193922652
|
|
NM_003238.6(TGFB2):c.510+12TTG[12]
|
rs10482769
|
|
NM_003476.4(CSRP3):c.-84A>G
|
rs727504617
|
|
NM_003476.4(CSRP3):c.-88A>G
|
rs727502947
|
|
NM_004085.4(TIMM8A):c.-11G>T
|
rs727503478
|
|
NM_004333.6(BRAF):c.2128-5dup
|
rs373442098
|
|
NM_004448.4(ERBB2):c.2327G>T (p.Gly776Val)
|
rs144434331
|
|
NM_004999.4(MYO6):c.-12CCT[1]
|
rs727504951
|
|
NM_005228.5(EGFR):c.2236G>C (p.Glu746Gln)
|
rs121913427
|
|
NM_005228.5(EGFR):c.2265C>G (p.Ala755=)
|
rs727503017
|
|
NM_005343.4(HRAS):c.36C>A (p.Gly12=)
|
rs727504424
|
|
NM_007078.3(LDB3):c.896+6669TC[13]
|
rs71019410
|
|
NM_016599.5(MYOZ2):c.561-14_561-13dup
|
rs112369914
|
|
NM_022124.6(CDH23):c.1449+148_1449+149del
|
rs727502921
|
|
NM_024422.6(DSC2):c.-222C>A
|
rs727505136
|
|
NM_024422.6(DSC2):c.-243_-234del
|
rs552918051
|
|
NM_033056.4(PCDH15):c.5358C>A (p.Ile1786=)
|
rs727503361
|
|
NM_138691.3(TMC1):c.*15G>A
|
rs727503489
|
|
NM_138691.3(TMC1):c.*1T>A
|
rs727503488
|
|
NM_144672.4(OTOA):c.981-147A>G
|
rs727505172
|
|
NM_194248.3(OTOF):c.*10CCT[1]
|
rs779197916
|
|
NM_198999.3(SLC26A5):c.1457A>G (p.Tyr486Cys)
|
rs727503433
|
|
NM_198999.3(SLC26A5):c.1514+1G>A
|
rs727504481
|
|
NM_206933.4(USH2A):c.*4A>G
|
rs530405236
|
|
NM_213569.2(NEBL):c.70-5dup
|
rs11413698
|
|