| 5973539 |
c.1231C>T |
p.P411S |
Chr.2:
201285193-201285193
on Build GRCh38
|
| 5009943 |
c.1297G>A |
p.A433T |
Chr.2:
201285259-201285259
on Build GRCh38
|
| 1326524 |
c.1352C>T |
p.P451L |
Chr.2:
201285314-201285314
on Build GRCh38
|
| 1014880 |
c.1347G>A |
p.T449T |
Chr.2:
201285183-201285183
on Build GRCh38
|
| 6940631 |
c.1424_1447del24 |
p.E476_S483delEGTWYIQS |
Chr.2:
201285260-201285283
on Build GRCh38
|
| 7340322 |
c.1457A>G |
p.Q486R |
Chr.2:
201285293-201285293
on Build GRCh38
|
| 7242726 |
c.1278T>A |
p.C426* |
Chr.2:
201285240-201285240
on Build GRCh38
|
| 5973537 |
c.1357C>T |
p.P453S |
Chr.2:
201285193-201285193
on Build GRCh38
|
| 4465616 |
c.1265C>T |
p.T422I |
Chr.2:
201285227-201285227
on Build GRCh38
|
| 7275721 |
c.1321T>C |
p.S441P |
Chr.2:
201285283-201285283
on Build GRCh38
|
| 5949737 |
c.1341A>C |
p.R447S |
Chr.2:
201285303-201285303
on Build GRCh38
|
| 5949735 |
c.1467A>C |
p.R489S |
Chr.2:
201285303-201285303
on Build GRCh38
|
| 6982637 |
c.1348A>G |
p.R450G |
Chr.2:
201285184-201285184
on Build GRCh38
|
| 2907145 |
c.1387G>A |
p.A463T |
Chr.2:
201285223-201285223
on Build GRCh38
|
| 4465614 |
c.1391C>T |
p.T464I |
Chr.2:
201285227-201285227
on Build GRCh38
|
| 2907153 |
c.1288C>T |
p.R430* |
Chr.2:
201285250-201285250
on Build GRCh38
|
| 4090191 |
c.1303G>T |
p.G435* |
Chr.2:
201285265-201285265
on Build GRCh38
|
| 6979655 |
c.1428G>T |
p.E476D |
Chr.2:
201285264-201285264
on Build GRCh38
|
| 6975302 |
c.1253T>C |
p.L418P |
Chr.2:
201285215-201285215
on Build GRCh38
|
| 1014883 |
c.1278T>C |
p.C426C |
Chr.2:
201285240-201285240
on Build GRCh38
|
| 6948372 |
c.1243G>A |
p.D415N |
Chr.2:
201285205-201285205
on Build GRCh38
|
| 1014887 |
c.1354C>T |
p.R452* |
Chr.2:
201285316-201285316
on Build GRCh38
|
| 6932764 |
c.1462C>A |
p.L488M |
Chr.2:
201285298-201285298
on Build GRCh38
|
| 6948370 |
c.1369G>A |
p.D457N |
Chr.2:
201285205-201285205
on Build GRCh38
|
| 7340323 |
c.1331A>G |
p.Q444R |
Chr.2:
201285293-201285293
on Build GRCh38
|
| 5752651 |
c.1444C>T |
p.Q482* |
Chr.2:
201285280-201285280
on Build GRCh38
|
| 268841 |
c.1406T>C |
p.V469A |
Chr.2:
201285242-201285242
on Build GRCh38
|
| 6975300 |
c.1379T>C |
p.L460P |
Chr.2:
201285215-201285215
on Build GRCh38
|
| 5660035 |
c.1376T>C |
p.L459P |
Chr.2:
201285212-201285212
on Build GRCh38
|
| 6943643 |
c.1463T>C |
p.L488P |
Chr.2:
201285299-201285299
on Build GRCh38
|
| 213034 |
c.1430G>C |
p.G477A |
Chr.2:
201285266-201285266
on Build GRCh38
|
| 7242725 |
c.1404T>A |
p.C468* |
Chr.2:
201285240-201285240
on Build GRCh38
|
| 6944885 |
c.1420C>T |
p.P474S |
Chr.2:
201285256-201285256
on Build GRCh38
|
| 6940633 |
c.1298_1321del24 |
p.E434_S441delEGTWYIQS |
Chr.2:
201285260-201285283
on Build GRCh38
|
| 3355742 |
c.1276_1277delTG |
p.V427fs*28 |
Chr.2:
201285238-201285239
on Build GRCh38
|
| 6970927 |
c.1310G>A |
p.W437* |
Chr.2:
201285272-201285272
on Build GRCh38
|
| 6907264 |
c.1220C>T |
p.T407M |
Chr.2:
201285182-201285182
on Build GRCh38
|
| 1014882 |
c.1404T>C |
p.C468C |
Chr.2:
201285240-201285240
on Build GRCh38
|
| 6970925 |
c.1436G>A |
p.W479* |
Chr.2:
201285272-201285272
on Build GRCh38
|
| 5025010 |
c.1247T>C |
p.F416S |
Chr.2:
201285209-201285209
on Build GRCh38
|
| 1014886 |
c.1480C>T |
p.R494* |
Chr.2:
201285316-201285316
on Build GRCh38
|
| 6937071 |
c.1243G>T |
p.D415Y |
Chr.2:
201285205-201285205
on Build GRCh38
|
| 209555 |
c.1471C>T |
p.R491* |
Chr.2:
201285307-201285307
on Build GRCh38
|
| 3743519 |
c.1337T>A |
p.L446Q |
Chr.2:
201285299-201285299
on Build GRCh38
|
| 6932766 |
c.1336C>A |
p.L446M |
Chr.2:
201285298-201285298
on Build GRCh38
|
| 3355726 |
c.1274_1275insT |
p.C426fs*30 |
Chr.2:
201285236-201285237
on Build GRCh38
|
| 209554 |
c.1345C>T |
p.R449* |
Chr.2:
201285307-201285307
on Build GRCh38
|
| 5009941 |
c.1423G>A |
p.A475T |
Chr.2:
201285259-201285259
on Build GRCh38
|
| 213033 |
c.1304G>C |
p.G435A |
Chr.2:
201285266-201285266
on Build GRCh38
|
| 6982639 |
c.1222A>G |
p.R408G |
Chr.2:
201285184-201285184
on Build GRCh38
|
| 6937069 |
c.1369G>T |
p.D457Y |
Chr.2:
201285205-201285205
on Build GRCh38
|
| 7264101 |
c.1232C>A |
p.P411Q |
Chr.2:
201285194-201285194
on Build GRCh38
|
| 3713595 |
c.1232C>T |
p.P411L |
Chr.2:
201285194-201285194
on Build GRCh38
|
| 2907151 |
c.1414C>T |
p.R472* |
Chr.2:
201285250-201285250
on Build GRCh38
|
| 6979657 |
c.1302G>T |
p.E434D |
Chr.2:
201285264-201285264
on Build GRCh38
|
| 3743517 |
c.1463T>A |
p.L488Q |
Chr.2:
201285299-201285299
on Build GRCh38
|
| 5752653 |
c.1318C>T |
p.Q440* |
Chr.2:
201285280-201285280
on Build GRCh38
|
| 1014881 |
c.1221G>A |
p.T407T |
Chr.2:
201285183-201285183
on Build GRCh38
|
| 2907147 |
c.1261G>A |
p.A421T |
Chr.2:
201285223-201285223
on Build GRCh38
|
| 1404468 |
c.1456C>T |
p.Q486* |
Chr.2:
201285292-201285292
on Build GRCh38
|
| 1014885 |
c.1311G>C |
p.W437C |
Chr.2:
201285273-201285273
on Build GRCh38
|
| 4090189 |
c.1429G>T |
p.G477* |
Chr.2:
201285265-201285265
on Build GRCh38
|
| 5660037 |
c.1250T>C |
p.L417P |
Chr.2:
201285212-201285212
on Build GRCh38
|
| 6944887 |
c.1294C>T |
p.P432S |
Chr.2:
201285256-201285256
on Build GRCh38
|
| 6363340 |
c.1472G>A |
p.R491Q |
Chr.2:
201285308-201285308
on Build GRCh38
|
| 3718876 |
c.1402_1403delTG |
p.V469fs*28 |
Chr.2:
201285238-201285239
on Build GRCh38
|
| 6363342 |
c.1346G>A |
p.R449Q |
Chr.2:
201285308-201285308
on Build GRCh38
|
| 5511826 |
c.1415G>A |
p.R472Q |
Chr.2:
201285251-201285251
on Build GRCh38
|
| 1404470 |
c.1330C>T |
p.Q444* |
Chr.2:
201285292-201285292
on Build GRCh38
|
| 7275720 |
c.1447T>C |
p.S483P |
Chr.2:
201285283-201285283
on Build GRCh38
|
| 1326522 |
c.1478C>T |
p.P493L |
Chr.2:
201285314-201285314
on Build GRCh38
|
| 6971017 |
c.1277G>A |
p.C426Y |
Chr.2:
201285239-201285239
on Build GRCh38
|
| 6943645 |
c.1337T>C |
p.L446P |
Chr.2:
201285299-201285299
on Build GRCh38
|
| 6971015 |
c.1403G>A |
p.C468Y |
Chr.2:
201285239-201285239
on Build GRCh38
|
| 268840 |
c.1280T>C |
p.V427A |
Chr.2:
201285242-201285242
on Build GRCh38
|
| 231954 |
c.1360G>A |
p.D454N |
Chr.2:
201285196-201285196
on Build GRCh38
|
| 3713593 |
c.1358C>T |
p.P453L |
Chr.2:
201285194-201285194
on Build GRCh38
|
| 7264100 |
c.1358C>A |
p.P453Q |
Chr.2:
201285194-201285194
on Build GRCh38
|
| 231953 |
c.1234G>A |
p.D412N |
Chr.2:
201285196-201285196
on Build GRCh38
|
| 5025008 |
c.1373T>C |
p.F458S |
Chr.2:
201285209-201285209
on Build GRCh38
|
| 3355737 |
c.1289G>A |
p.R430Q |
Chr.2:
201285251-201285251
on Build GRCh38
|
| 1014884 |
c.1437G>C |
p.W479C |
Chr.2:
201285273-201285273
on Build GRCh38
|
| 5049779 |
c.1328G>T |
p.C443F |
Chr.2:
201285290-201285290
on Build GRCh38
|
| 6906096 |
c.1244A>T |
p.D415V |
Chr.2:
201285206-201285206
on Build GRCh38
|