NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)
|
rs137852959
|
0.00024
|
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly)
|
rs562740927
|
0.00005
|
NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val)
|
rs761156912
|
0.00004
|
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile)
|
rs752078407
|
0.00004
|
NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter)
|
rs1250997630
|
0.00003
|
NM_001386393.1(PANK2):c.1112_1114del (p.Arg371_Glu372delinsGln)
|
rs766251466
|
0.00003
|
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)
|
rs137852967
|
0.00002
|
NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp)
|
rs753376100
|
0.00002
|
NM_001386393.1(PANK2):c.846_847del (p.Gly283_Val284insTer)
|
rs778550409
|
0.00002
|
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly)
|
rs763496520
|
0.00001
|
NM_001386393.1(PANK2):c.1083-1G>T
|
rs148987163
|
0.00001
|
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter)
|
rs137852968
|
0.00001
|
NM_001386393.1(PANK2):c.243del (p.Ser81fs)
|
rs916725028
|
0.00001
|
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys)
|
rs1555787646
|
0.00001
|
NM_001386393.1(PANK2):c.353T>C (p.Phe118Ser)
|
rs1360807330
|
0.00001
|
NM_001386393.1(PANK2):c.440_441insCT (p.Tyr148fs)
|
rs1375490128
|
0.00001
|
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp)
|
rs137852961
|
0.00001
|
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln)
|
rs368682034
|
0.00001
|
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys)
|
rs137852962
|
0.00001
|
NM_001386393.1(PANK2):c.905+1G>C
|
rs1135401789
|
0.00001
|
NM_001386393.1(PANK2):c.987del (p.Arg330fs)
|
rs544616523
|
0.00001
|
GRCh37/hg19 20p13(chr20:3888573-3888925)
|
|
|
NC_000020.10:g.(?_3869748)_(3891497_?)del
|
|
|
NC_000020.10:g.(?_3888553)_(3888945_?)del
|
|
|
NC_000020.10:g.(?_3891204)_(3893301_?)del
|
|
|
NC_000020.11:g.(?_3889081)_(3912654_?)del
|
|
|
NC_000020.11:g.3863511_3918336del
|
|
|
NM_001386393.1(PANK2):c.104C>A (p.Ser35Ter)
|
|
|
NM_001386393.1(PANK2):c.1061C>G (p.Pro354Arg)
|
|
|
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn)
|
rs137852963
|
|
NM_001386393.1(PANK2):c.1083-1G>A
|
|
|
NM_001386393.1(PANK2):c.1086del (p.Phe362fs)
|
rs2146887806
|
|
NM_001386393.1(PANK2):c.1090_1096del (p.Gly363_Asn364insTer)
|
|
|
NM_001386393.1(PANK2):c.1094T>C (p.Met365Thr)
|
|
|
NM_001386393.1(PANK2):c.1096_1099del (p.Met366fs)
|
rs1555789557
|
|
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro)
|
rs1241995212
|
|
NM_001386393.1(PANK2):c.1145C>T (p.Ala382Val)
|
|
|
NM_001386393.1(PANK2):c.115G>T (p.Glu39Ter)
|
rs528889529
|
|
NM_001386393.1(PANK2):c.1171_1174dup (p.Gly392fs)
|
|
|
NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn)
|
|
|
NM_001386393.1(PANK2):c.1172T>C (p.Ile391Thr)
|
|
|
NM_001386393.1(PANK2):c.118C>T (p.Gln40Ter)
|
|
|
NM_001386393.1(PANK2):c.1207-3C>G
|
rs370766524
|
|
NM_001386393.1(PANK2):c.1261_1262del (p.Met421fs)
|
|
|
NM_001386393.1(PANK2):c.1277A>G (p.Tyr426Cys)
|
rs1193865095
|
|
NM_001386393.1(PANK2):c.1352_1371del (p.Gly451fs)
|
rs2090674600
|
|
NM_001386393.1(PANK2):c.1358T>A (p.Leu453His)
|
|
|
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs)
|
rs755653150
|
|
NM_001386393.1(PANK2):c.185_197del (p.Val62fs)
|
|
|
NM_001386393.1(PANK2):c.189_201del (p.Ala64fs)
|
|
|
NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter)
|
rs137852969
|
|
NM_001386393.1(PANK2):c.215_216insA (p.Arg73fs)
|
|
|
NM_001386393.1(PANK2):c.225del (p.Arg76fs)
|
|
|
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter)
|
rs137852960
|
|
NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer)
|
rs1600477446
|
|
NM_001386393.1(PANK2):c.262del (p.Arg88fs)
|
|
|
NM_001386393.1(PANK2):c.308G>A (p.Trp103Ter)
|
|
|
NM_001386393.1(PANK2):c.317dup (p.Asp107fs)
|
rs2146859220
|
|
NM_001386393.1(PANK2):c.371_380del (p.Thr124fs)
|
|
|
NM_001386393.1(PANK2):c.493_494del (p.Leu165fs)
|
rs750440690
|
|
NM_001386393.1(PANK2):c.498_499del (p.Cys166fs)
|
|
|
NM_001386393.1(PANK2):c.521_525dup (p.Arg176fs)
|
rs1600534514
|
|
NM_001386393.1(PANK2):c.579del (p.Phe194fs)
|
rs1568569941
|
|
NM_001386393.1(PANK2):c.600_606del (p.Phe201fs)
|
rs879253712
|
|
NM_001386393.1(PANK2):c.604dup (p.Cys202fs)
|
|
|
NM_001386393.1(PANK2):c.606T>A (p.Cys202Ter)
|
rs1555787799
|
|
NM_001386393.1(PANK2):c.635A>G (p.Glu212Gly)
|
|
|
NM_001386393.1(PANK2):c.636G>T (p.Glu212Asp)
|
|
|
NM_001386393.1(PANK2):c.652-1G>C
|
rs2146866687
|
|
NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter)
|
rs777414421
|
|
NM_001386393.1(PANK2):c.67A>G (p.Met23Val)
|
rs2146804825
|
|
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)
|
rs754521581
|
|
NM_001386393.1(PANK2):c.755_758del (p.Tyr252fs)
|
rs1600542260
|
|
NM_001386393.1(PANK2):c.756C>A (p.Tyr252Ter)
|
rs1600542275
|
|
NM_001386393.1(PANK2):c.767del (p.Pro256fs)
|
rs753400880
|
|
NM_001386393.1(PANK2):c.806del (p.Asp268_Leu269insTer)
|
|
|
NM_001386393.1(PANK2):c.832dup (p.Val278fs)
|
rs2090456897
|
|
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp)
|
rs1288629241
|
|
NM_001386393.1(PANK2):c.885C>G (p.Tyr295Ter)
|
|
|
NM_001386393.1(PANK2):c.905+1G>T
|
rs1135401789
|
|
NM_001386393.1(PANK2):c.906-2A>C
|
rs1261714833
|
|
NM_001386393.1(PANK2):c.906-99_929del
|
rs2146872050
|
|
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs)
|
rs1555788619
|
|
NM_001386393.1(PANK2):c.927del (p.Phe309fs)
|
rs1568574931
|
|
NM_001386393.1(PANK2):c.940CTT[1] (p.Leu315del)
|
rs1064794317
|
|
NM_001386393.1(PANK2):c.944T>C (p.Leu315Pro)
|
rs2146872522
|
|
NM_001386393.1(PANK2):c.949_961del (p.Gly317fs)
|
|
|
NM_153638.4(PANK2):c.68_69insTG (p.His24fs)
|
|
|