NM_201548.5(CERKL):c.375C>G (p.Cys125Trp)
|
rs200711686
|
0.00084
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
NM_201548.5(CERKL):c.222del (p.Gln74fs)
|
rs1476585944
|
0.00003
|
NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp)
|
rs139300604
|
0.00002
|
NM_201548.5(CERKL):c.481+2T>G
|
rs753994107
|
0.00002
|
NM_201548.5(CERKL):c.1074-1G>C
|
rs927261937
|
0.00001
|
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)
|
rs1187839124
|
0.00001
|
NM_201548.5(CERKL):c.239-2A>G
|
rs776886395
|
0.00001
|
NM_201548.5(CERKL):c.2T>G (p.Met1Arg)
|
rs1187991259
|
0.00001
|
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp)
|
rs1003615909
|
0.00001
|
NM_201548.5(CERKL):c.613+4_613+5del
|
rs766131721
|
0.00001
|
NM_201548.5(CERKL):c.677+581G>A
|
rs1574454654
|
0.00001
|
NM_201548.5(CERKL):c.678-1G>A
|
rs1209393896
|
0.00001
|
NM_201548.5(CERKL):c.1073+1G>A
|
rs1283658402
|
|
NM_201548.5(CERKL):c.1073+3_1073+6del
|
rs1553513437
|
|
NM_201548.5(CERKL):c.1074-2A>G
|
rs2105803582
|
|
NM_201548.5(CERKL):c.112C>T (p.Gln38Ter)
|
rs776566319
|
|
NM_201548.5(CERKL):c.1159+1G>A
|
|
|
NM_201548.5(CERKL):c.1160-2A>G
|
|
|
NM_201548.5(CERKL):c.1225_1226insAAGG (p.Cys409Ter)
|
|
|
NM_201548.5(CERKL):c.1347T>A (p.Tyr449Ter)
|
rs770284500
|
|
NM_201548.5(CERKL):c.1361dup (p.Asn454fs)
|
rs2105797158
|
|
NM_201548.5(CERKL):c.1365+2T>C
|
|
|
NM_201548.5(CERKL):c.1366-1G>A
|
rs1574426870
|
|
NM_201548.5(CERKL):c.1366-1G>T
|
|
|
NM_201548.5(CERKL):c.1366-2A>G
|
|
|
NM_201548.5(CERKL):c.1389_1392del (p.Tyr464fs)
|
rs1026405158
|
|
NM_201548.5(CERKL):c.1392C>G (p.Tyr464Ter)
|
rs1241374922
|
|
NM_201548.5(CERKL):c.1421_1424del (p.Arg474fs)
|
|
|
NM_201548.5(CERKL):c.1484del (p.Phe495fs)
|
|
|
NM_201548.5(CERKL):c.1534dup (p.Ile512fs)
|
|
|
NM_201548.5(CERKL):c.1539-16_1552inv
|
|
|
NM_201548.5(CERKL):c.1555_1558dup (p.Ser520fs)
|
|
|
NM_201548.5(CERKL):c.182T>A (p.Val61Glu)
|
rs1472885040
|
|
NM_201548.5(CERKL):c.237_238+13del
|
rs746128841
|
|
NM_201548.5(CERKL):c.238+1G>T
|
|
|
NM_201548.5(CERKL):c.239-1G>A
|
rs1559100465
|
|
NM_201548.5(CERKL):c.239-2A>C
|
|
|
NM_201548.5(CERKL):c.270del (p.Glu91fs)
|
|
|
NM_201548.5(CERKL):c.2T>C (p.Met1Thr)
|
rs1187991259
|
|
NM_201548.5(CERKL):c.304A>T (p.Lys102Ter)
|
|
|
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)
|
rs569826109
|
|
NM_201548.5(CERKL):c.323_327del (p.Cys107_Ser108insTer)
|
rs1685567937
|
|
NM_201548.5(CERKL):c.336del (p.Arg113fs)
|
|
|
NM_201548.5(CERKL):c.366_367del (p.Phe123fs)
|
rs1305408254
|
|
NM_201548.5(CERKL):c.385G>T (p.Glu129Ter)
|
|
|
NM_201548.5(CERKL):c.397_401del (p.Leu133fs)
|
rs1457373962
|
|
NM_201548.5(CERKL):c.420del (p.Ile141fs)
|
rs398122962
|
|
NM_201548.5(CERKL):c.482-1G>A
|
|
|
NM_201548.5(CERKL):c.52_55del (p.Glu18fs)
|
rs2105569036
|
|
NM_201548.5(CERKL):c.541G>T (p.Glu181Ter)
|
|
|
NM_201548.5(CERKL):c.566del (p.Lys189fs)
|
rs1255407239
|
|
NM_201548.5(CERKL):c.568del (p.Val190fs)
|
|
|
NM_201548.5(CERKL):c.613+1G>C
|
|
|
NM_201548.5(CERKL):c.645dup (p.Leu216fs)
|
rs1688653833
|
|
NM_201548.5(CERKL):c.677+3A>G
|
rs1553515435
|
|
NM_201548.5(CERKL):c.677+547G>A
|
rs1044562973
|
|
NM_201548.5(CERKL):c.677+562del
|
rs2105832223
|
|
NM_201548.5(CERKL):c.678-1G>T
|
|
|
NM_201548.5(CERKL):c.6del (p.Trp3fs)
|
|
|
NM_201548.5(CERKL):c.752_755dup (p.Met253fs)
|
|
|
NM_201548.5(CERKL):c.812T>C (p.Ile271Thr)
|
rs786205545
|
|
NM_201548.5(CERKL):c.820+2C>G
|
rs1328971667
|
|
NM_201548.5(CERKL):c.848_849del (p.Leu283fs)
|
rs2105805625
|
|
NM_201548.5(CERKL):c.8G>A (p.Trp3Ter)
|
rs2105569550
|
|
NM_201548.5(CERKL):c.93del (p.Leu32fs)
|
|
|