NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)
|
rs1212623980
|
0.00003
|
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)
|
rs745517517
|
0.00003
|
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)
|
rs757523840
|
0.00003
|
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr)
|
rs121908626
|
0.00003
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)
|
rs121908630
|
0.00003
|
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00003
|
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)
|
rs1236647498
|
0.00003
|
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)
|
rs1057516374
|
0.00003
|
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)
|
rs776384541
|
0.00002
|
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)
|
rs762106720
|
0.00002
|
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser)
|
rs1057516798
|
0.00001
|
NM_005476.7(GNE):c.1525C>T (p.His509Tyr)
|
rs754892377
|
0.00001
|
NM_005476.7(GNE):c.1771G>A (p.Ala591Thr)
|
rs752286512
|
0.00001
|
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)
|
rs372732220
|
0.00001
|
NM_005476.7(GNE):c.2003C>T (p.Ser668Phe)
|
rs1258671706
|
0.00001
|
NM_005476.7(GNE):c.301C>T (p.Arg101Cys)
|
rs148523065
|
0.00001
|
NM_005476.7(GNE):c.529C>T (p.Arg177Cys)
|
rs539332585
|
0.00001
|
NM_005476.7(GNE):c.572C>G (p.Ser191Ter)
|
rs1357906793
|
0.00001
|
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)
|
rs786204476
|
0.00001
|
NM_005476.7(GNE):c.722T>G (p.Ile241Ser)
|
rs759945787
|
0.00001
|
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)
|
rs773729410
|
0.00001
|
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)
|
rs757091387
|
0.00001
|
GRCh37/hg19 9p13.3(chr9:36227245-36227455)
|
|
|
NC_000009.11:g.(36246480_36249188)_(36249395_36276890)del
|
|
|
NM_001128227.2(GNE):c.1376delG
|
rs1057516705
|
|
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)
|
rs794727279
|
|
NM_001128227.3(GNE):c.88C>T (p.Gln30Ter)
|
rs1554664090
|
|
NM_005476.7(GNE):c.1018C>T (p.Gln340Ter)
|
rs983424324
|
|
NM_005476.7(GNE):c.1026_1027del (p.Lys342fs)
|
|
|
NM_005476.7(GNE):c.1031T>A (p.Leu344Ter)
|
|
|
NM_005476.7(GNE):c.1033C>T (p.Gln345Ter)
|
rs1829027066
|
|
NM_005476.7(GNE):c.1075A>T (p.Lys359Ter)
|
rs1828929851
|
|
NM_005476.7(GNE):c.1113_1114delinsT (p.Leu371fs)
|
|
|
NM_005476.7(GNE):c.1153A>T (p.Lys385Ter)
|
rs1828921198
|
|
NM_005476.7(GNE):c.1158del (p.Lys386fs)
|
rs1057516275
|
|
NM_005476.7(GNE):c.1222del (p.Ser408fs)
|
|
|
NM_005476.7(GNE):c.1229T>A (p.Leu410Ter)
|
rs1828914261
|
|
NM_005476.7(GNE):c.1262T>C (p.Val421Ala)
|
rs1057516364
|
|
NM_005476.7(GNE):c.1294A>T (p.Lys432Ter)
|
rs1828703342
|
|
NM_005476.7(GNE):c.1305del (p.Gln436fs)
|
|
|
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)
|
rs786204558
|
|
NM_005476.7(GNE):c.1411+1del
|
rs1057516597
|
|
NM_005476.7(GNE):c.1412G>A (p.Gly471Asp)
|
rs1439999698
|
|
NM_005476.7(GNE):c.1417del (p.Ser473fs)
|
rs1057516965
|
|
NM_005476.7(GNE):c.1475T>A (p.Ile492Asn)
|
rs1563930321
|
|
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
|
|
|
NM_005476.7(GNE):c.1543_1544del (p.Asp515fs)
|
rs1057516657
|
|
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser)
|
rs1554658910
|
|
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys)
|
rs986773986
|
|
NM_005476.7(GNE):c.1609_1616del (p.Phe537fs)
|
rs1057516340
|
|
NM_005476.7(GNE):c.165-1del
|
|
|
NM_005476.7(GNE):c.1686del (p.Cys563fs)
|
rs886044449
|
|
NM_005476.7(GNE):c.1710TGT[1] (p.Val572del)
|
rs762796465
|
|
NM_005476.7(GNE):c.1740del (p.Cys581fs)
|
rs1554658453
|
|
NM_005476.7(GNE):c.1781del (p.Met594fs)
|
rs1057517157
|
|
NM_005476.7(GNE):c.1787T>A (p.Leu596Ter)
|
|
|
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs)
|
rs1436850036
|
|
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)
|
rs387906347
|
|
NM_005476.7(GNE):c.1868del (p.Gly623fs)
|
|
|
NM_005476.7(GNE):c.1885C>T (p.Gln629Ter)
|
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005476.7(GNE):c.2122G>A (p.Gly708Ser)
|
rs1554657922
|
|
NM_005476.7(GNE):c.22C>T (p.Arg8Ter)
|
rs766420673
|
|
NM_005476.7(GNE):c.31C>T (p.Arg11Trp)
|
rs769716748
|
|
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)
|
rs372872777
|
|
NM_005476.7(GNE):c.386G>A (p.Arg129Gln)
|
rs748704459
|
|
NM_005476.7(GNE):c.388del (p.Ile130fs)
|
rs1423445315
|
|
NM_005476.7(GNE):c.435_438del (p.Ile146fs)
|
rs1057516915
|
|
NM_005476.7(GNE):c.445G>T (p.Ala149Ser)
|
rs1563946658
|
|
NM_005476.7(GNE):c.448A>G (p.Ile150Val)
|
rs758814313
|
|
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)
|
rs769215411
|
|
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)
|
rs886044514
|
|
NM_005476.7(GNE):c.616+1del
|
rs1554663295
|
|
NM_005476.7(GNE):c.617-1G>A
|
rs1256419231
|
|
NM_005476.7(GNE):c.617-2A>G
|
rs1554661582
|
|
NM_005476.7(GNE):c.630dup (p.Ser211fs)
|
rs1554661569
|
|
NM_005476.7(GNE):c.636dup (p.Asp213fs)
|
rs1057517094
|
|
NM_005476.7(GNE):c.640del (p.Tyr214fs)
|
rs1554661561
|
|
NM_005476.7(GNE):c.655C>T (p.Gln219Ter)
|
rs1057516906
|
|
NM_005476.7(GNE):c.669_675del (p.Thr224fs)
|
|
|
NM_005476.7(GNE):c.680dup (p.His228fs)
|
rs1554661552
|
|
NM_005476.7(GNE):c.694del (p.Met232fs)
|
rs1554661549
|
|
NM_005476.7(GNE):c.79C>T (p.Pro27Ser)
|
rs1554664064
|
|
NM_005476.7(GNE):c.811G>T (p.Glu271Ter)
|
rs1829294478
|
|
NM_005476.7(GNE):c.856C>T (p.Gln286Ter)
|
rs1057516746
|
|
NM_005476.7(GNE):c.878A>G (p.His293Arg)
|
|
|
NM_005476.7(GNE):c.910G>A (p.Gly304Arg)
|
rs755743750
|
|
NM_005476.7(GNE):c.926dup (p.Ala310fs)
|
|
|
NM_005476.7(GNE):c.934_937del (p.Gly312fs)
|
|
|
NM_005476.7(GNE):c.955G>T (p.Gly319Ter)
|
rs1829284405
|
|
NM_005476.7(GNE):c.961C>T (p.Arg321Cys)
|
rs1554661030
|
|