NM_006947.4(SRP72):c.*606A>T
|
rs868279024
|
0.05397
|
NM_001012339.3(DNAJC21):c.1024G>A (p.Val342Met)
|
rs144600070
|
0.00471
|
NM_006947.4(SRP72):c.*221A>G
|
rs149250989
|
0.00152
|
NM_020207.7(ERCC6L2):c.163T>G (p.Leu55Val)
|
rs141719745
|
0.00148
|
NM_001012339.3(DNAJC21):c.1186-531G>A
|
rs112971776
|
0.00144
|
NM_001012339.3(DNAJC21):c.191+10A>G
|
rs368399096
|
0.00102
|
NM_006947.4(SRP72):c.*194G>A
|
rs188713088
|
0.00073
|
NM_001012339.3(DNAJC21):c.958G>A (p.Asp320Asn)
|
rs148374246
|
0.00058
|
NM_020207.7(ERCC6L2):c.1099T>C (p.Trp367Arg)
|
rs200807189
|
0.00042
|
NM_006947.4(SRP72):c.*505C>T
|
rs562987091
|
0.00031
|
NM_006947.4(SRP72):c.*624A>G
|
rs867685822
|
0.00025
|
NM_006947.4(SRP72):c.*1385A>G
|
rs754461786
|
0.00022
|
NM_006947.4(SRP72):c.*635C>T
|
rs200981113
|
0.00015
|
NM_006947.4(SRP72):c.622C>T (p.Arg208Cys)
|
rs375436807
|
0.00011
|
NM_006947.4(SRP72):c.623G>A (p.Arg208His)
|
rs369761160
|
0.00011
|
NM_006947.4(SRP72):c.*839T>C
|
rs757066668
|
0.00009
|
NM_006947.4(SRP72):c.*1483A>G
|
rs566533583
|
0.00008
|
NM_006947.4(SRP72):c.*321A>G
|
rs886059499
|
0.00007
|
NM_006947.4(SRP72):c.*622G>A
|
rs775675334
|
0.00007
|
NM_020207.7(ERCC6L2):c.1772A>G (p.Asn591Ser)
|
rs781374501
|
0.00007
|
NM_020207.7(ERCC6L2):c.2657C>T (p.Thr886Ile)
|
rs1180420541
|
0.00007
|
NM_006947.4(SRP72):c.*1241C>T
|
rs1282273094
|
0.00006
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
NM_006947.4(SRP72):c.*1678C>T
|
rs886059503
|
0.00003
|
NM_006947.4(SRP72):c.*1764A>G
|
rs192226722
|
0.00003
|
NM_001012339.3(DNAJC21):c.983+1G>A
|
rs368148362
|
0.00002
|
NM_006947.4(SRP72):c.*1478C>A
|
rs1405583789
|
0.00002
|
NM_006947.4(SRP72):c.1636C>A (p.Gln546Lys)
|
rs1185247120
|
0.00002
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
NM_001012339.3(DNAJC21):c.410T>C (p.Phe137Ser)
|
rs752188838
|
0.00001
|
NM_002393.5(MDM4):c.1045A>G (p.Ile349Val)
|
rs1346731264
|
0.00001
|
NM_006947.4(SRP72):c.*227G>A
|
rs879875987
|
0.00001
|
NM_006947.4(SRP72):c.*473G>A
|
rs1020026480
|
0.00001
|
NM_006947.4(SRP72):c.29C>T (p.Ser10Leu)
|
rs752240949
|
0.00001
|
NM_006947.4(SRP72):c.7A>G (p.Ser3Gly)
|
rs1719782337
|
0.00001
|
NM_006947.4(SRP72):c.973A>G (p.Lys325Glu)
|
rs763655714
|
0.00001
|
NM_020207.7(ERCC6L2):c.1097G>A (p.Gly366Asp)
|
rs140078259
|
0.00001
|
NM_020207.7(ERCC6L2):c.1555C>A (p.His519Asn)
|
rs759609268
|
0.00001
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
NM_000546.6(TP53):c.869G>T (p.Arg290Leu)
|
rs55819519
|
|
NM_001012339.3(DNAJC21):c.1015C>T (p.Arg339Trp)
|
rs368712421
|
|
NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln)
|
rs142389949
|
|
NM_001012339.3(DNAJC21):c.1368del (p.Lys456fs)
|
rs756768331
|
|
NM_001012339.3(DNAJC21):c.463T>C (p.Trp155Arg)
|
rs1580526653
|
|
NM_001085487.3(MYSM1):c.688G>C (p.Asp230His)
|
|
|
NM_002393.5(MDM4):c.1147T>C (p.Ser383Pro)
|
rs2102456822
|
|
NM_006947.4(SRP72):c.*1227_*1232del
|
rs886059502
|
|
NM_006947.4(SRP72):c.*125GT[1]
|
rs886059498
|
|
NM_006947.4(SRP72):c.*142A>G
|
rs878964615
|
|
NM_006947.4(SRP72):c.*1769T>G
|
rs886059504
|
|
NM_006947.4(SRP72):c.*407T>C
|
rs541665813
|
|
NM_006947.4(SRP72):c.*606AT[10]
|
rs201131530
|
|
NM_006947.4(SRP72):c.*633T>C
|
rs867120149
|
|
NM_006947.4(SRP72):c.*637TA[11]
|
rs35852754
|
|
NM_006947.4(SRP72):c.*637TA[7]
|
rs35852754
|
|
NM_006947.4(SRP72):c.*637TA[9]
|
rs35852754
|
|
NM_006947.4(SRP72):c.-10C>T
|
|
|
NM_006947.4(SRP72):c.1900G>C (p.Val634Leu)
|
|
|
NM_006947.4(SRP72):c.1938C>G (p.His646Gln)
|
rs1721270142
|
|
NM_006947.4(SRP72):c.574C>G (p.Leu192Val)
|
rs772592244
|
|
NM_006947.4(SRP72):c.979T>C (p.Ser327Pro)
|
rs1040868057
|
|
NM_020207.7(ERCC6L2):c.3309dup (p.Ser1104fs)
|
|
|
NM_020207.7(ERCC6L2):c.4241A>G (p.Lys1414Arg)
|
rs1588056898
|
|
NM_020207.7(ERCC6L2):c.789-6_789-3del
|
rs754561683
|
|