NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln)
|
rs486907
|
0.28062
|
NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter)
|
rs74315364
|
0.00334
|
NM_021133.4(RNASEL):c.1260C>T (p.Phe420=)
|
rs540408368
|
0.00010
|
NM_021133.4(RNASEL):c.1033dup (p.Ala345fs)
|
|
|
NM_021133.4(RNASEL):c.1127_1129del (p.Glu376del)
|
|
|
NM_021133.4(RNASEL):c.1208G>C (p.Arg403Pro)
|
rs141194514
|
|
NM_021133.4(RNASEL):c.1219del (p.Cys407fs)
|
rs2102370333
|
|
NM_021133.4(RNASEL):c.1222C>T (p.Leu408=)
|
rs2102370326
|
|
NM_021133.4(RNASEL):c.1222del (p.Leu408fs)
|
rs2102370328
|
|
NM_021133.4(RNASEL):c.1230C>A (p.Ser410Arg)
|
rs989361325
|
|
NM_021133.4(RNASEL):c.1234del (p.Arg412fs)
|
rs2102370300
|
|
NM_021133.4(RNASEL):c.1237G>A (p.Glu413Lys)
|
rs2102370287
|
|
NM_021133.4(RNASEL):c.1239G>A (p.Glu413=)
|
rs1186074827
|
|
NM_021133.4(RNASEL):c.1243A>G (p.Ser415Gly)
|
rs2102370272
|
|
NM_021133.4(RNASEL):c.1248del (p.Leu417fs)
|
rs2102370267
|
|
NM_021133.4(RNASEL):c.1250del (p.Leu417fs)
|
rs2102370262
|
|
NM_021133.4(RNASEL):c.1250dup (p.Leu417fs)
|
rs2102370262
|
|
NM_021133.4(RNASEL):c.1252_1253insA (p.Val418fs)
|
rs2102370252
|
|
NM_021133.4(RNASEL):c.1253dup (p.Thr419fs)
|
rs2102370247
|
|
NM_021133.4(RNASEL):c.1256C>A (p.Thr419Lys)
|
rs2102370237
|
|
NM_021133.4(RNASEL):c.1256del (p.Thr419fs)
|
rs2102370243
|
|
NM_021133.4(RNASEL):c.1257A>T (p.Thr419=)
|
rs2102370230
|
|
NM_021133.4(RNASEL):c.1257del (p.Phe420fs)
|
rs2102370233
|
|
NM_021133.4(RNASEL):c.1259dup (p.Tyr421fs)
|
rs2102370225
|
|
NM_021133.4(RNASEL):c.1263T>C (p.Tyr421=)
|
rs2102370209
|
|
NM_021133.4(RNASEL):c.1264G>T (p.Gly422Trp)
|
rs2102370198
|
|
NM_021133.4(RNASEL):c.1266dup (p.Ser423fs)
|
rs2102370197
|
|
NM_021133.4(RNASEL):c.1268del (p.Ser423fs)
|
rs2102370194
|
|
NM_021133.4(RNASEL):c.1270G>C (p.Glu424Gln)
|
rs1053454537
|
|
NM_021133.4(RNASEL):c.1273dup (p.Ser425fs)
|
rs2102370187
|
|
NM_021133.4(RNASEL):c.1279del (p.Arg427fs)
|
rs2102370169
|
|
NM_021133.4(RNASEL):c.1285dup (p.His429fs)
|
rs2102370147
|
|
NM_021133.4(RNASEL):c.1286del (p.His429fs)
|
rs2102370138
|
|
NM_021133.4(RNASEL):c.1287_1288insA (p.Leu430fs)
|
rs2102370108
|
|
NM_021133.4(RNASEL):c.1289T>A (p.Leu430Ter)
|
rs2102370104
|
|
NM_021133.4(RNASEL):c.1289T>C (p.Leu430Ser)
|
rs2102370104
|
|
NM_021133.4(RNASEL):c.1293dup (p.Val432fs)
|
rs2102370096
|
|
NM_021133.4(RNASEL):c.1300del (p.Val434fs)
|
rs2102370082
|
|
NM_021133.4(RNASEL):c.1303A>C (p.Thr435Pro)
|
rs2102370075
|
|
NM_021133.4(RNASEL):c.1305C>T (p.Thr435=)
|
rs2102370068
|
|
NM_021133.4(RNASEL):c.1311del (p.Cys437fs)
|
rs2102370054
|
|
NM_021133.4(RNASEL):c.1311dup (p.Glu438Ter)
|
rs2102370050
|
|
NM_021133.4(RNASEL):c.1322del (p.Leu441fs)
|
rs2102370008
|
|
NM_021133.4(RNASEL):c.1343dup (p.His448fs)
|
rs2102369976
|
|
NM_021133.4(RNASEL):c.1351del (p.Glu451fs)
|
rs2102369965
|
|
NM_021133.4(RNASEL):c.1358del (p.Val453fs)
|
rs2102369958
|
|
NM_021133.4(RNASEL):c.1360del (p.Glu454fs)
|
rs2102369955
|
|
NM_021133.4(RNASEL):c.1364dup (p.Asn455fs)
|
rs2102369947
|
|
NM_021133.4(RNASEL):c.1368G>T (p.Glu456Asp)
|
rs2102369941
|
|
NM_021133.4(RNASEL):c.1369del (p.Glu457fs)
|
rs2102369939
|
|
NM_021133.4(RNASEL):c.1380del (p.Phe460fs)
|
rs2102369911
|
|
NM_021133.4(RNASEL):c.1385del (p.Arg462fs)
|
rs2102369892
|
|
NM_021133.4(RNASEL):c.1388A>G (p.Asn463Ser)
|
rs2102369881
|
|
NM_021133.4(RNASEL):c.1393C>A (p.Leu465Met)
|
rs2102369874
|
|
NM_021133.4(RNASEL):c.1395del (p.Ser466fs)
|
rs2102369871
|
|
NM_021133.4(RNASEL):c.1399_1400insA (p.Ser467fs)
|
rs2102369865
|
|
NM_021133.4(RNASEL):c.1400dup (p.Ile468fs)
|
rs2102369862
|
|
NM_021133.4(RNASEL):c.1403del (p.Ile468fs)
|
rs2102369853
|
|
NM_021133.4(RNASEL):c.1405T>A (p.Phe469Ile)
|
rs1196436666
|
|
NM_021133.4(RNASEL):c.1407T>A (p.Phe469Leu)
|
rs1364210034
|
|
NM_021133.4(RNASEL):c.1407del (p.Phe469fs)
|
rs2102369842
|
|
NM_021133.4(RNASEL):c.1409A>C (p.Lys470Thr)
|
rs2102369835
|
|
NM_021133.4(RNASEL):c.1411del (p.Ala471fs)
|
rs2102369827
|
|
NM_021133.4(RNASEL):c.1412C>T (p.Ala471Val)
|
rs2102369822
|
|
NM_021133.4(RNASEL):c.1413del (p.Val472fs)
|
rs2102369818
|
|
NM_021133.4(RNASEL):c.1414_1415del (p.Val472fs)
|
rs2102369813
|
|
NM_021133.4(RNASEL):c.1416T>C (p.Val472=)
|
rs2102369809
|
|
NM_021133.4(RNASEL):c.1418A>C (p.Gln473Pro)
|
rs1661571994
|
|
NM_021133.4(RNASEL):c.1422A>T (p.Glu474Asp)
|
rs2102369798
|
|
NM_021133.4(RNASEL):c.1429T>A (p.Leu477Met)
|
rs2102369789
|
|
NM_021133.4(RNASEL):c.1430del (p.Leu477fs)
|
rs2102369783
|
|
NM_021133.4(RNASEL):c.1481-1G>T
|
|
|
NM_021133.4(RNASEL):c.1591G>A (p.Val531Met)
|
|
|
NM_021133.4(RNASEL):c.2039+1del
|
|
|
NM_021133.4(RNASEL):c.526G>A (p.Ala176Thr)
|
|
|