NM_000298.6(PKLR):c.1269+43T>C
|
rs8177982
|
0.00718
|
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)
|
rs8177988
|
0.00414
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
NM_000298.6(PKLR):c.*14C>T
|
rs8177994
|
0.00166
|
NM_000298.6(PKLR):c.814C>G (p.Leu272Val)
|
rs147659527
|
0.00163
|
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln)
|
rs61755431
|
0.00119
|
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp)
|
rs201217064
|
0.00056
|
NM_000298.6(PKLR):c.507+14C>A
|
rs201156800
|
0.00046
|
NM_000298.6(PKLR):c.-26C>T
|
rs200181342
|
0.00045
|
NM_000298.6(PKLR):c.92C>T (p.Ala31Val)
|
rs150077703
|
0.00040
|
NM_000298.6(PKLR):c.*582G>A
|
rs758139094
|
0.00036
|
NM_000298.6(PKLR):c.111G>T (p.Gly37=)
|
rs141341788
|
0.00034
|
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys)
|
rs139002629
|
0.00030
|
NM_000298.6(PKLR):c.6G>A (p.Ser2=)
|
rs139697646
|
0.00026
|
NM_000298.6(PKLR):c.965+12G>A
|
rs200039500
|
0.00022
|
NM_000298.6(PKLR):c.507G>A (p.Gly169=)
|
rs201674983
|
0.00021
|
NM_000298.6(PKLR):c.*499G>A
|
rs777573500
|
0.00019
|
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp)
|
rs200133000
|
0.00013
|
NM_000298.6(PKLR):c.1117-13C>T
|
rs145132664
|
0.00012
|
NM_000298.6(PKLR):c.805G>T (p.Val269Phe)
|
rs200695047
|
0.00011
|
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp)
|
rs375189218
|
0.00010
|
NM_000298.6(PKLR):c.1365C>T (p.Thr455=)
|
rs146708702
|
0.00010
|
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala)
|
rs149946271
|
0.00007
|
NM_000298.6(PKLR):c.122G>A (p.Arg41Gln)
|
rs374805791
|
0.00005
|
NM_000298.6(PKLR):c.731G>A (p.Gly244Asp)
|
rs774192277
|
0.00005
|
NM_000298.6(PKLR):c.*342C>T
|
rs879040355
|
0.00004
|
NM_000298.6(PKLR):c.*346_*348del
|
rs556763356
|
0.00004
|
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val)
|
rs756549612
|
0.00003
|
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp)
|
rs142238268
|
0.00003
|
NM_000298.6(PKLR):c.790C>T (p.Leu264=)
|
rs199959447
|
0.00003
|
NM_000298.6(PKLR):c.918C>A (p.His306Gln)
|
rs141571402
|
0.00003
|
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser)
|
rs745797890
|
0.00002
|
NM_000298.6(PKLR):c.909G>C (p.Pro303=)
|
rs200840994
|
0.00002
|
NM_000298.6(PKLR):c.*275C>T
|
rs886045350
|
0.00001
|
NM_000298.6(PKLR):c.-31G>A
|
rs778164541
|
0.00001
|
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp)
|
rs765903674
|
0.00001
|
NM_000298.6(PKLR):c.1088C>A (p.Ala363Glu)
|
rs763466930
|
0.00001
|
NM_000298.6(PKLR):c.1217G>A (p.Gly406Glu)
|
rs779817999
|
0.00001
|
NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln)
|
rs768210809
|
0.00001
|
NM_000298.6(PKLR):c.*13T>G
|
rs1052177
|
|
NM_000298.6(PKLR):c.*14C>G
|
rs8177994
|
|
NM_000298.6(PKLR):c.*351T>A
|
rs886045349
|
|
NM_000298.6(PKLR):c.*356T>C
|
rs1674470980
|
|
NM_000298.6(PKLR):c.*500C>T
|
rs1674463281
|
|
NM_000298.6(PKLR):c.1061A>G (p.Lys354Arg)
|
rs2148204121
|
|
NM_000298.6(PKLR):c.1117-4C>G
|
rs1572054195
|
|
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
|
|
|
NM_000298.6(PKLR):c.1575G>A (p.Trp525Ter)
|
rs2148198897
|
|
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly)
|
rs886045353
|
|
NM_000298.6(PKLR):c.227T>C (p.Leu76Pro)
|
|
|
NM_000298.6(PKLR):c.284-9T>C
|
rs886045352
|
|
NM_000298.6(PKLR):c.376-11C>G
|
rs1647538523
|
|
NM_000298.6(PKLR):c.382G>C (p.Ala128Pro)
|
|
|
NM_000298.6(PKLR):c.451G>A (p.Val151Met)
|
|
|
NM_000298.6(PKLR):c.491C>A (p.Thr164Asn)
|
rs1220156417
|
|
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp)
|
rs199824528
|
|
NM_000298.6(PKLR):c.639G>T (p.Val213=)
|
rs750102822
|
|
NM_000298.6(PKLR):c.657_677del (p.Asp220_Leu226del)
|
|
|
NM_000298.6(PKLR):c.692T>C (p.Ile231Thr)
|
|
|
NM_000298.6(PKLR):c.694+43C>T
|
|
|
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys)
|
rs1557959063
|
|
NM_000298.6(PKLR):c.945G>C (p.Glu315Asp)
|
rs2148204818
|
|
NM_000298.6(PKLR):c.958G>C (p.Val320Leu)
|
|
|
NM_000298.6(PKLR):c.966-12C>T
|
rs1188767860
|
|
NM_000298.6(PKLR):c.966G>T (p.Arg322Ser)
|
rs763964110
|
|
NM_000298.6(PKLR):c.972T>C (p.Asp324=)
|
rs8177974
|
|