NM_000391.4(TPP1):c.381-10dup
|
rs146315473
|
0.02726
|
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn)
|
rs145966505
|
0.00008
|
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)
|
rs119455954
|
0.00005
|
NM_000391.4(TPP1):c.225A>G (p.Gln75=)
|
rs368709098
|
0.00004
|
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp)
|
rs553122824
|
0.00004
|
NM_000391.4(TPP1):c.887-18A>G
|
rs935526225
|
0.00003
|
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)
|
rs121908200
|
0.00002
|
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)
|
rs121908202
|
0.00002
|
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)
|
rs765380155
|
0.00001
|
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg)
|
rs119455953
|
0.00001
|
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly)
|
rs1471156821
|
0.00001
|
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys)
|
rs1035033641
|
0.00001
|
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly)
|
rs398122959
|
0.00001
|
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala)
|
rs756530648
|
0.00001
|
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly)
|
rs1192702664
|
0.00001
|
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)
|
rs1184563885
|
0.00001
|
NM_000391.4(TPP1):c.1551+1G>C
|
rs786204553
|
0.00001
|
NM_000391.4(TPP1):c.1552-1G>A
|
rs1057516511
|
0.00001
|
NM_000391.4(TPP1):c.1593dup (p.Glu532fs)
|
rs1216139602
|
0.00001
|
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu)
|
rs1315730321
|
0.00001
|
NM_000391.4(TPP1):c.182T>G (p.Leu61Arg)
|
rs1060502179
|
0.00001
|
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)
|
rs121908195
|
0.00001
|
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)
|
rs764256845
|
0.00001
|
NM_000391.4(TPP1):c.617G>A (p.Arg206His)
|
rs121908209
|
0.00001
|
NM_000391.4(TPP1):c.649G>C (p.Gly217Arg)
|
rs1330875156
|
0.00001
|
NM_000391.4(TPP1):c.650G>T (p.Gly217Val)
|
rs975304153
|
0.00001
|
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)
|
rs796053439
|
0.00001
|
NM_000391.4(TPP1):c.845G>A (p.Ser282Asn)
|
rs796053440
|
0.00001
|
NM_000391.4(TPP1):c.1012C>G (p.Gln338Glu)
|
|
|
NM_000391.4(TPP1):c.1012C>T (p.Gln338Ter)
|
|
|
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)
|
rs750428882
|
|
NM_000391.4(TPP1):c.1016G>T (p.Arg339Leu)
|
rs765380155
|
|
NM_000391.4(TPP1):c.1020_1021del (p.Asn341fs)
|
|
|
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)
|
rs1554901784
|
|
NM_000391.4(TPP1):c.1076-1G>A
|
rs1554901731
|
|
NM_000391.4(TPP1):c.1076-2A>G
|
rs1424116749
|
|
NM_000391.4(TPP1):c.1076-2A>T
|
rs1424116749
|
|
NM_000391.4(TPP1):c.1087del (p.Ala363fs)
|
rs2134592949
|
|
NM_000391.4(TPP1):c.1104dup (p.Ser369fs)
|
|
|
NM_000391.4(TPP1):c.1145+1G>A
|
rs113019349
|
|
NM_000391.4(TPP1):c.1145+2T>C
|
|
|
NM_000391.4(TPP1):c.1146-1G>A
|
rs1131691676
|
|
NM_000391.4(TPP1):c.1154T>A (p.Val385Asp)
|
rs121908198
|
|
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu)
|
rs121908199
|
|
NM_000391.4(TPP1):c.1176_1177del (p.Phe393fs)
|
|
|
NM_000391.4(TPP1):c.1199_1200del (p.Thr400fs)
|
|
|
NM_000391.4(TPP1):c.1213_1214delinsT (p.Asp405fs)
|
|
|
NM_000391.4(TPP1):c.1248_1250delinsT (p.Pro417fs)
|
|
|
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter)
|
rs1057516319
|
|
NM_000391.4(TPP1):c.1266+1G>A
|
|
|
NM_000391.4(TPP1):c.1266+1G>T
|
|
|
NM_000391.4(TPP1):c.1267-2A>G
|
rs1855562978
|
|
NM_000391.4(TPP1):c.1333_1344dup (p.Ser445_Ala448dup)
|
rs1554901580
|
|
NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro)
|
rs119455956
|
|
NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu)
|
rs121908201
|
|
NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer)
|
rs1554901576
|
|
NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser)
|
rs864309505
|
|
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)
|
rs786204753
|
|
NM_000391.4(TPP1):c.1392_1393del (p.Asn464fs)
|
rs1407106889
|
|
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs)
|
rs1855559514
|
|
NM_000391.4(TPP1):c.1425+1G>A
|
|
|
NM_000391.4(TPP1):c.1425+2T>G
|
rs2134591515
|
|
NM_000391.4(TPP1):c.1426-1G>A
|
rs867927501
|
|
NM_000391.4(TPP1):c.1444G>A (p.Gly482Arg)
|
|
|
NM_000391.4(TPP1):c.1449del (p.Ile484fs)
|
rs1057516264
|
|
NM_000391.4(TPP1):c.1449dup (p.Ile484fs)
|
rs1057516264
|
|
NM_000391.4(TPP1):c.147del (p.Thr50fs)
|
|
|
NM_000391.4(TPP1):c.1496dup (p.Leu500fs)
|
rs756963463
|
|
NM_000391.4(TPP1):c.1497del (p.Gly501fs)
|
rs1554901523
|
|
NM_000391.4(TPP1):c.1551+1G>A
|
rs786204553
|
|
NM_000391.4(TPP1):c.1551+1G>T
|
rs786204553
|
|
NM_000391.4(TPP1):c.1603G>A (p.Gly535Ser)
|
|
|
NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs)
|
rs1554901463
|
|
NM_000391.4(TPP1):c.1661dup (p.Ala555fs)
|
rs1057516579
|
|
NM_000391.4(TPP1):c.17+1G>A
|
rs779615685
|
|
NM_000391.4(TPP1):c.17+2T>A
|
|
|
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro)
|
rs1060502179
|
|
NM_000391.4(TPP1):c.184_185del (p.Ser62fs)
|
rs1554902216
|
|
NM_000391.4(TPP1):c.184del (p.Ser62fs)
|
rs1554902217
|
|
NM_000391.4(TPP1):c.230-1G>A
|
|
|
NM_000391.4(TPP1):c.230-1G>C
|
rs1057516667
|
|
NM_000391.4(TPP1):c.230-2A>G
|
|
|
NM_000391.4(TPP1):c.238dup (p.Leu80fs)
|
|
|
NM_000391.4(TPP1):c.262_270delinsAT (p.Leu88fs)
|
|
|
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)
|
rs202189057
|
|
NM_000391.4(TPP1):c.357dup (p.Leu120fs)
|
rs1554902085
|
|
NM_000391.4(TPP1):c.380+5G>A
|
rs1564855725
|
|
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)
|
rs121908204
|
|
NM_000391.4(TPP1):c.381-2A>G
|
rs1554902052
|
|
NM_000391.4(TPP1):c.422dup (p.Tyr141Ter)
|
rs1554902043
|
|
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser)
|
rs869025274
|
|
NM_000391.4(TPP1):c.457_490del (p.Ser153fs)
|
rs878855331
|
|
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter)
|
rs553522118
|
|
NM_000391.4(TPP1):c.509-1G>T
|
rs56144125
|
|
NM_000391.4(TPP1):c.533del (p.Pro178fs)
|
rs1855599044
|
|
NM_000391.4(TPP1):c.605C>A (p.Pro202His)
|
|
|
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu)
|
rs121908205
|
|
NM_000391.4(TPP1):c.609dup (p.Val204fs)
|
rs1057516366
|
|
NM_000391.4(TPP1):c.617G>C (p.Arg206Pro)
|
rs121908209
|
|
NM_000391.4(TPP1):c.636_638delinsA (p.Ser213fs)
|
|
|
NM_000391.4(TPP1):c.638C>A (p.Ser213Ter)
|
|
|
NM_000391.4(TPP1):c.646G>A (p.Val216Met)
|
|
|
NM_000391.4(TPP1):c.649G>A (p.Gly217Ser)
|
|
|
NM_000391.4(TPP1):c.687+2T>A
|
|
|
NM_000391.4(TPP1):c.687+2T>G
|
rs1057516945
|
|
NM_000391.4(TPP1):c.689del (p.Phe230fs)
|
rs1554901898
|
|
NM_000391.4(TPP1):c.760C>T (p.Gln254Ter)
|
|
|
NM_000391.4(TPP1):c.767C>A (p.Ser256Ter)
|
|
|
NM_000391.4(TPP1):c.819del (p.Ser274fs)
|
rs1057517313
|
|
NM_000391.4(TPP1):c.824T>G (p.Leu275Arg)
|
rs2134594286
|
|
NM_000391.4(TPP1):c.829G>A (p.Val277Met)
|
rs121908207
|
|
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)
|
rs119455958
|
|
NM_000391.4(TPP1):c.858C>A (p.Asn286Lys)
|
rs1420315178
|
|
NM_000391.4(TPP1):c.876C>A (p.Tyr292Ter)
|
|
|
NM_000391.4(TPP1):c.886+2del
|
|
|
NM_000391.4(TPP1):c.90-2A>T
|
rs1855627953
|
|
NM_000391.4(TPP1):c.904G>T (p.Glu302Ter)
|
|
|
NM_000391.4(TPP1):c.938_939del (p.Asn313fs)
|
rs886041487
|
|
NM_000391.4(TPP1):c.972_979del (p.Ser324fs)
|
rs778232650
|
|