6835246 |
c.1193-1G>C |
p.? |
Chr.1:
114099266-114099266
on Build GRCh38
|
6864207 |
c.1289A>T |
p.E430V |
Chr.1:
114099169-114099169
on Build GRCh38
|
201654 |
c.1059G>A |
p.P353P |
Chr.1:
114099144-114099144
on Build GRCh38
|
6896944 |
c.1346C>T |
p.S449L |
Chr.1:
114099112-114099112
on Build GRCh38
|
6795547 |
c.1098G>T |
p.M366I |
Chr.1:
114099105-114099105
on Build GRCh38
|
3471548 |
c.1327C>T |
p.Q443* |
Chr.1:
114099131-114099131
on Build GRCh38
|
4947583 |
c.1196C>G |
p.P399R |
Chr.1:
114099262-114099262
on Build GRCh38
|
5934436 |
c.1195C>T |
p.P399S |
Chr.1:
114099263-114099263
on Build GRCh38
|
6835245 |
c.938-1G>C |
p.? |
Chr.1:
114099266-114099266
on Build GRCh38
|
4576136 |
c.1200T>C |
p.Y400Y |
Chr.1:
114099258-114099258
on Build GRCh38
|
3471547 |
c.1072C>T |
p.Q358* |
Chr.1:
114099131-114099131
on Build GRCh38
|
6795548 |
c.1353G>T |
p.M451I |
Chr.1:
114099105-114099105
on Build GRCh38
|
6864206 |
c.1034A>T |
p.E345V |
Chr.1:
114099169-114099169
on Build GRCh38
|
4608204 |
c.1232G>T |
p.R411M |
Chr.1:
114099226-114099226
on Build GRCh38
|
6896943 |
c.1091C>T |
p.S364L |
Chr.1:
114099112-114099112
on Build GRCh38
|
3975905 |
c.1363C>A |
p.R455R |
Chr.1:
114099095-114099095
on Build GRCh38
|
6293247 |
c.1313C>T |
p.P438L |
Chr.1:
114099145-114099145
on Build GRCh38
|
119698 |
c.1042A>T |
p.I348F |
Chr.1:
114099161-114099161
on Build GRCh38
|
3975904 |
c.1108C>A |
p.R370R |
Chr.1:
114099095-114099095
on Build GRCh38
|
674242 |
c.1042A>G |
p.I348V |
Chr.1:
114099161-114099161
on Build GRCh38
|
4020836 |
c.1314G>A |
p.P438P |
Chr.1:
114099144-114099144
on Build GRCh38
|
4020838 |
c.1271T>G |
p.L424R |
Chr.1:
114099187-114099187
on Build GRCh38
|
5934435 |
c.940C>T |
p.P314S |
Chr.1:
114099263-114099263
on Build GRCh38
|
4020837 |
c.1016T>G |
p.L339R |
Chr.1:
114099187-114099187
on Build GRCh38
|
76657 |
c.941C>G |
p.P314R |
Chr.1:
114099262-114099262
on Build GRCh38
|
6293246 |
c.1058C>T |
p.P353L |
Chr.1:
114099145-114099145
on Build GRCh38
|
3862276 |
c.1363C>T |
p.R455* |
Chr.1:
114099095-114099095
on Build GRCh38
|
4576135 |
c.945T>C |
p.Y315Y |
Chr.1:
114099258-114099258
on Build GRCh38
|
894164 |
c.1108C>T |
p.R370* |
Chr.1:
114099095-114099095
on Build GRCh38
|
4860615 |
c.1297A>G |
p.I433V |
Chr.1:
114099161-114099161
on Build GRCh38
|
4608203 |
c.977G>T |
p.R326M |
Chr.1:
114099226-114099226
on Build GRCh38
|