3360966 |
c.1534G>A |
p.G512S |
Chr.1:
57011183-57011183
on Build GRCh38
|
4964891 |
c.1643G>A |
p.S548N |
Chr.1:
57011173-57011173
on Build GRCh38
|
5701764 |
c.1646_1647CC>AT |
p.P549H |
Chr.1:
57011169-57011170
on Build GRCh38
|
4527432 |
c.1562G>A |
p.R521K |
Chr.1:
57011254-57011254
on Build GRCh38
|
6063620 |
c.1512C>A |
p.T504T |
Chr.1:
57011205-57011205
on Build GRCh38
|
6639712 |
c.1569A>C |
p.E523D |
Chr.1:
57011148-57011148
on Build GRCh38
|
5701763 |
c.1547_1548CC>AT |
p.P516H |
Chr.1:
57011169-57011170
on Build GRCh38
|
4964890 |
c.1544G>A |
p.S515N |
Chr.1:
57011173-57011173
on Build GRCh38
|
4169085 |
c.1642A>G |
p.S548G |
Chr.1:
57011174-57011174
on Build GRCh38
|
1667578 |
c.1478C>T |
p.S493F |
Chr.1:
57011239-57011239
on Build GRCh38
|
107513 |
c.1484C>T |
p.S495L |
Chr.1:
57011233-57011233
on Build GRCh38
|
4903079 |
c.1583C>T |
p.S528L |
Chr.1:
57011233-57011233
on Build GRCh38
|
5594482 |
c.1552A>T |
p.K518* |
Chr.1:
57011165-57011165
on Build GRCh38
|
4169084 |
c.1543A>G |
p.S515G |
Chr.1:
57011174-57011174
on Build GRCh38
|
319787 |
c.1534G>T |
p.G512C |
Chr.1:
57011183-57011183
on Build GRCh38
|
4784950 |
c.1656C>T |
p.S552S |
Chr.1:
57011160-57011160
on Build GRCh38
|
5990711 |
c.1629A>C |
p.E543D |
Chr.1:
57011187-57011187
on Build GRCh38
|
2237132 |
c.1657G>A |
p.E553K |
Chr.1:
57011159-57011159
on Build GRCh38
|
5990710 |
c.1530A>C |
p.E510D |
Chr.1:
57011187-57011187
on Build GRCh38
|
2237137 |
c.1558C>A |
p.P520T |
Chr.1:
57011258-57011258
on Build GRCh38
|
5594483 |
c.1651A>T |
p.K551* |
Chr.1:
57011165-57011165
on Build GRCh38
|
5381307 |
c.1611C>T |
p.T537T |
Chr.1:
57011205-57011205
on Build GRCh38
|
4527431 |
c.1463G>A |
p.R488K |
Chr.1:
57011254-57011254
on Build GRCh38
|
6126814 |
c.1573C>G |
p.P525A |
Chr.1:
57011243-57011243
on Build GRCh38
|
1343662 |
c.1557C>T |
p.S519S |
Chr.1:
57011160-57011160
on Build GRCh38
|
3491242 |
c.1660G>T |
p.E554* |
Chr.1:
57011156-57011156
on Build GRCh38
|
3491241 |
c.1561G>T |
p.E521* |
Chr.1:
57011156-57011156
on Build GRCh38
|
6207983 |
c.1545T>C |
p.S515S |
Chr.1:
57011172-57011172
on Build GRCh38
|
3491246 |
c.1558C>T |
p.P520S |
Chr.1:
57011258-57011258
on Build GRCh38
|
2237136 |
c.1459C>A |
p.P487T |
Chr.1:
57011258-57011258
on Build GRCh38
|
3491245 |
c.1459C>T |
p.P487S |
Chr.1:
57011258-57011258
on Build GRCh38
|
911111 |
c.1533G>T |
p.E511D |
Chr.1:
57011184-57011184
on Build GRCh38
|
3360967 |
c.1633G>A |
p.G545S |
Chr.1:
57011183-57011183
on Build GRCh38
|
6639713 |
c.1668A>C |
p.E556D |
Chr.1:
57011148-57011148
on Build GRCh38
|
4468490 |
c.1547C>T |
p.P516L |
Chr.1:
57011170-57011170
on Build GRCh38
|
6063621 |
c.1611C>A |
p.T537T |
Chr.1:
57011205-57011205
on Build GRCh38
|
4527477 |
c.1566G>A |
p.Q522Q |
Chr.1:
57011250-57011250
on Build GRCh38
|
259122 |
c.1540G>C |
p.E514Q |
Chr.1:
57011177-57011177
on Build GRCh38
|
7363609 |
c.1487C>T |
p.S496F |
Chr.1:
57011230-57011230
on Build GRCh38
|
4785937 |
c.1632G>T |
p.E544D |
Chr.1:
57011184-57011184
on Build GRCh38
|
4468491 |
c.1646C>T |
p.P549L |
Chr.1:
57011170-57011170
on Build GRCh38
|
70391 |
c.1556G>T |
p.S519I |
Chr.1:
57011161-57011161
on Build GRCh38
|
2237135 |
c.1577C>T |
p.S526F |
Chr.1:
57011239-57011239
on Build GRCh38
|
4676097 |
c.1456G>T |
p.A486S |
Chr.1:
57011261-57011261
on Build GRCh38
|
7363608 |
c.1586C>T |
p.S529F |
Chr.1:
57011230-57011230
on Build GRCh38
|
4527476 |
c.1467G>A |
p.Q489Q |
Chr.1:
57011250-57011250
on Build GRCh38
|
2237131 |
c.1558G>A |
p.E520K |
Chr.1:
57011159-57011159
on Build GRCh38
|
1320974 |
c.1519G>T |
p.D507Y |
Chr.1:
57011198-57011198
on Build GRCh38
|
3491244 |
c.1618G>A |
p.D540N |
Chr.1:
57011198-57011198
on Build GRCh38
|
6126813 |
c.1474C>G |
p.P492A |
Chr.1:
57011243-57011243
on Build GRCh38
|
6207984 |
c.1644T>C |
p.S548S |
Chr.1:
57011172-57011172
on Build GRCh38
|
3491243 |
c.1519G>A |
p.D507N |
Chr.1:
57011198-57011198
on Build GRCh38
|
4676098 |
c.1555G>T |
p.A519S |
Chr.1:
57011261-57011261
on Build GRCh38
|
5381306 |
c.1512C>T |
p.T504T |
Chr.1:
57011205-57011205
on Build GRCh38
|