318771 |
c.1476G>T |
p.Q492H |
Chr.1:
26731277-26731277
on Build GRCh38
|
4848070 |
c.1528C>T |
p.Q510* |
Chr.1:
26731329-26731329
on Build GRCh38
|
7356381 |
c.1487C>G |
p.A496G |
Chr.1:
26731288-26731288
on Build GRCh38
|
307377 |
c.1508_1509insAAGGCCCCAGCGGGTATGGTCAACAGGGC |
p.P504fs*125 |
Chr.1:
26731309-26731310
on Build GRCh38
|
907685 |
c.1449_1450insCC |
p.Y485fs*135 |
Chr.1:
26731250-26731251
on Build GRCh38
|
6907246 |
c.1420C>T |
p.Q474* |
Chr.1:
26731221-26731221
on Build GRCh38
|
907687 |
c.1512delA |
p.Q505fs*114 |
Chr.1:
26731313-26731313
on Build GRCh38
|
5910132 |
c.1351-1G>A |
p.? |
Chr.1:
26731151-26731151
on Build GRCh38
|
3984934 |
c.1483C>T |
p.H495Y |
Chr.1:
26731284-26731284
on Build GRCh38
|
6854525 |
c.1447C>T |
p.P483S |
Chr.1:
26731248-26731248
on Build GRCh38
|
7183906 |
c.1515_1518delGTCT |
p.Q505fs*113 |
Chr.1:
26731316-26731319
on Build GRCh38
|
6604543 |
c.1470G>A |
p.P490P |
Chr.1:
26731271-26731271
on Build GRCh38
|
6906443 |
c.1405C>T |
p.P469S |
Chr.1:
26731206-26731206
on Build GRCh38
|
7335337 |
c.1478_1487del10 |
p.P494fs*122 |
Chr.1:
26731279-26731288
on Build GRCh38
|
6853296 |
c.1361A>T |
p.Y454F |
Chr.1:
26731162-26731162
on Build GRCh38
|
4765101 |
c.1379_1380insGC |
p.S460fs*160 |
Chr.1:
26731180-26731181
on Build GRCh38
|
6604516 |
c.1497G>A |
p.S499S |
Chr.1:
26731298-26731298
on Build GRCh38
|
6918038 |
c.1522C>T |
p.P508S |
Chr.1:
26731323-26731323
on Build GRCh38
|
6954783 |
c.1369delC |
p.Q457fs*162 |
Chr.1:
26731170-26731170
on Build GRCh38
|
6856769 |
c.1519C>T |
p.Q507* |
Chr.1:
26731320-26731320
on Build GRCh38
|
5637809 |
c.1519C>A |
p.Q507K |
Chr.1:
26731320-26731320
on Build GRCh38
|
7173018 |
c.1521_1528delACCACCAC |
p.P508fs*112 |
Chr.1:
26731322-26731329
on Build GRCh38
|
7345390 |
c.1496delC |
p.S499fs*120 |
Chr.1:
26731297-26731297
on Build GRCh38
|
3377104 |
c.1520A>G |
p.Q507R |
Chr.1:
26731321-26731321
on Build GRCh38
|
6604537 |
c.1509G>A |
p.Q503Q |
Chr.1:
26731310-26731310
on Build GRCh38
|
6979548 |
c.1469C>A |
p.P490Q |
Chr.1:
26731270-26731270
on Build GRCh38
|
6943945 |
c.1355C>G |
p.P452R |
Chr.1:
26731156-26731156
on Build GRCh38
|
5752706 |
c.1543C>T |
p.Q515* |
Chr.1:
26731344-26731344
on Build GRCh38
|
5347136 |
c.1413C>A |
p.Y471* |
Chr.1:
26731214-26731214
on Build GRCh38
|
6917600 |
c.1432C>T |
p.P478S |
Chr.1:
26731233-26731233
on Build GRCh38
|
5607844 |
c.1358C>T |
p.P453L |
Chr.1:
26731159-26731159
on Build GRCh38
|
347956 |
c.1501C>T |
p.Q501* |
Chr.1:
26731302-26731302
on Build GRCh38
|
5347110 |
c.1559A>G |
p.Q520R |
Chr.1:
26731360-26731360
on Build GRCh38
|
6048762 |
c.1417C>T |
p.Q473* |
Chr.1:
26731218-26731218
on Build GRCh38
|
51447 |
c.1366C>T |
p.Q456* |
Chr.1:
26731167-26731167
on Build GRCh38
|
3677643 |
c.1516T>C |
p.S506P |
Chr.1:
26731317-26731317
on Build GRCh38
|
6938346 |
c.1372delG |
p.G458fs*161 |
Chr.1:
26731173-26731173
on Build GRCh38
|
680179 |
c.1473C>A |
p.S491S |
Chr.1:
26731274-26731274
on Build GRCh38
|
51220 |
c.1455_1456insCCTAC |
p.S486fs*135 |
Chr.1:
26731256-26731257
on Build GRCh38
|
6925421 |
c.1517_1518insT |
p.Q507fs*116 |
Chr.1:
26731318-26731319
on Build GRCh38
|
7340246 |
c.1468C>T |
p.P490S |
Chr.1:
26731269-26731269
on Build GRCh38
|
907684 |
c.1351-1G>T |
p.? |
Chr.1:
26731151-26731151
on Build GRCh38
|
6977294 |
c.1359delT |
p.Y454fs*165 |
Chr.1:
26731160-26731160
on Build GRCh38
|
907686 |
c.1469C>T |
p.P490L |
Chr.1:
26731270-26731270
on Build GRCh38
|
6951604 |
c.1483C>G |
p.H495D |
Chr.1:
26731284-26731284
on Build GRCh38
|
6945643 |
c.1457C>G |
p.S486C |
Chr.1:
26731258-26731258
on Build GRCh38
|
7110743 |
c.1435C>G |
p.Q479E |
Chr.1:
26731236-26731236
on Build GRCh38
|
6854524 |
c.1480C>A |
p.P494T |
Chr.1:
26731281-26731281
on Build GRCh38
|
1741237 |
c.1375C>G |
p.P459A |
Chr.1:
26731176-26731176
on Build GRCh38
|
907688 |
c.1530G>A |
p.Q510Q |
Chr.1:
26731331-26731331
on Build GRCh38
|
7345045 |
c.1403_1404insTCCT |
p.Y470fs*154 |
Chr.1:
26731204-26731205
on Build GRCh38
|
4829320 |
c.1369C>T |
p.Q457* |
Chr.1:
26731170-26731170
on Build GRCh38
|
5347142 |
c.1390C>T |
p.Q464* |
Chr.1:
26731191-26731191
on Build GRCh38
|
7342092 |
c.1451C>T |
p.P484L |
Chr.1:
26731252-26731252
on Build GRCh38
|
332817 |
c.1435C>T |
p.Q479* |
Chr.1:
26731236-26731236
on Build GRCh38
|
51466 |
c.1398_1398delC |
p.Q467fs*152 |
Chr.1:
26731199-26731199
on Build GRCh38
|
6917749 |
c.1351-1G>C |
p.? |
Chr.1:
26731151-26731151
on Build GRCh38
|
6967127 |
c.1558C>T |
p.Q520* |
Chr.1:
26731359-26731359
on Build GRCh38
|
5042632 |
c.1433C>T |
p.P478L |
Chr.1:
26731234-26731234
on Build GRCh38
|
4031001 |
c.1438C>T |
p.Q480* |
Chr.1:
26731239-26731239
on Build GRCh38
|
6988493 |
c.1488C>T |
p.A496A |
Chr.1:
26731289-26731289
on Build GRCh38
|
4663216 |
c.1496C>T |
p.S499L |
Chr.1:
26731297-26731297
on Build GRCh38
|
6976743 |
c.1373G>A |
p.G458D |
Chr.1:
26731174-26731174
on Build GRCh38
|
5607837 |
c.1354C>T |
p.P452S |
Chr.1:
26731155-26731155
on Build GRCh38
|
6911978 |
c.1480C>T |
p.P494S |
Chr.1:
26731281-26731281
on Build GRCh38
|
1602140 |
c.1351-2A>G |
p.? |
Chr.1:
26731150-26731150
on Build GRCh38
|
7343496 |
c.1510C>G |
p.P504A |
Chr.1:
26731311-26731311
on Build GRCh38
|
51440 |
c.1441C>T |
p.Q481* |
Chr.1:
26731242-26731242
on Build GRCh38
|
6925750 |
c.1399C>T |
p.Q467* |
Chr.1:
26731200-26731200
on Build GRCh38
|
6929810 |
c.1357C>T |
p.P453S |
Chr.1:
26731158-26731158
on Build GRCh38
|
7083782 |
c.1497_1498insT |
p.Y500fs*123 |
Chr.1:
26731298-26731299
on Build GRCh38
|
6503524 |
c.1474C>T |
p.Q492* |
Chr.1:
26731275-26731275
on Build GRCh38
|
5927999 |
c.1489C>T |
p.Q497* |
Chr.1:
26731290-26731290
on Build GRCh38
|
6503526 |
c.1534C>T |
p.Q512* |
Chr.1:
26731335-26731335
on Build GRCh38
|
6023766 |
c.1381_1381delG |
p.Y462fs*157 |
Chr.1:
26731182-26731182
on Build GRCh38
|
5001656 |
c.1485T>G |
p.H495Q |
Chr.1:
26731286-26731286
on Build GRCh38
|
3966497 |
c.1376C>T |
p.P459L |
Chr.1:
26731177-26731177
on Build GRCh38
|
266034 |
c.1446G>A |
p.Q482Q |
Chr.1:
26731247-26731247
on Build GRCh38
|
6023793 |
c.1438_1438delC |
p.Q480fs*139 |
Chr.1:
26731239-26731239
on Build GRCh38
|