367265 |
c.1261G>T |
p.V421F |
Chr.2:
174800235-174800235
on Build GRCh38
|
6353844 |
c.1230G>A |
p.E410E |
Chr.2:
174800266-174800266
on Build GRCh38
|
362066 |
c.1318G>T |
p.D440Y |
Chr.2:
174800178-174800178
on Build GRCh38
|
4672192 |
c.873G>T |
p.E291D |
Chr.2:
174800248-174800248
on Build GRCh38
|
3837453 |
c.1227G>T |
p.K409N |
Chr.2:
174800269-174800269
on Build GRCh38
|
274540 |
c.1221C>T |
p.H407H |
Chr.2:
174800275-174800275
on Build GRCh38
|
6894867 |
c.873G>C |
p.E291D |
Chr.2:
174800248-174800248
on Build GRCh38
|
7449518 |
c.985A>G |
p.N329D |
Chr.2:
174800136-174800136
on Build GRCh38
|
4086875 |
c.1260C>T |
p.I420I |
Chr.2:
174800236-174800236
on Build GRCh38
|
7361210 |
c.988G>A |
p.E330K |
Chr.2:
174800133-174800133
on Build GRCh38
|
5042964 |
c.886G>A |
p.V296I |
Chr.2:
174800235-174800235
on Build GRCh38
|
5042965 |
c.1261G>A |
p.V421I |
Chr.2:
174800235-174800235
on Build GRCh38
|
5516231 |
c.1325G>A |
p.R442Q |
Chr.2:
174800171-174800171
on Build GRCh38
|
6894868 |
c.1248G>C |
p.E416D |
Chr.2:
174800248-174800248
on Build GRCh38
|
5556567 |
c.846C>T |
p.H282H |
Chr.2:
174800275-174800275
on Build GRCh38
|
3570139 |
c.847G>A |
p.E283K |
Chr.2:
174800274-174800274
on Build GRCh38
|
5516230 |
c.950G>A |
p.R317Q |
Chr.2:
174800171-174800171
on Build GRCh38
|
5504930 |
c.1354_1355insT |
p.K453fs*>8 |
Chr.2:
174800141-174800142
on Build GRCh38
|
3570137 |
c.911C>T |
p.S304F |
Chr.2:
174800210-174800210
on Build GRCh38
|
5504929 |
c.979_980insT |
p.K328fs*>8 |
Chr.2:
174800141-174800142
on Build GRCh38
|
717681 |
c.1310C>T |
p.A437V |
Chr.2:
174800186-174800186
on Build GRCh38
|
5685659 |
c.1345G>T |
p.E449* |
Chr.2:
174800151-174800151
on Build GRCh38
|
717680 |
c.1221C>A |
p.H407Q |
Chr.2:
174800275-174800275
on Build GRCh38
|
5685658 |
c.970G>T |
p.E324* |
Chr.2:
174800151-174800151
on Build GRCh38
|
4523363 |
c.1210G>A |
p.V404M |
Chr.2:
174800286-174800286
on Build GRCh38
|
6010401 |
c.972G>A |
p.E324E |
Chr.2:
174800149-174800149
on Build GRCh38
|
7361209 |
c.1363G>A |
p.E455K |
Chr.2:
174800133-174800133
on Build GRCh38
|
3837452 |
c.852G>T |
p.K284N |
Chr.2:
174800269-174800269
on Build GRCh38
|
1148446 |
c.846C>A |
p.H282Q |
Chr.2:
174800275-174800275
on Build GRCh38
|
4672193 |
c.1248G>T |
p.E416D |
Chr.2:
174800248-174800248
on Build GRCh38
|
6353843 |
c.855G>A |
p.E285E |
Chr.2:
174800266-174800266
on Build GRCh38
|
1148445 |
c.935C>T |
p.A312V |
Chr.2:
174800186-174800186
on Build GRCh38
|
3570140 |
c.1222G>A |
p.E408K |
Chr.2:
174800274-174800274
on Build GRCh38
|
7449517 |
c.1360A>G |
p.N454D |
Chr.2:
174800136-174800136
on Build GRCh38
|
3570138 |
c.1286C>T |
p.S429F |
Chr.2:
174800210-174800210
on Build GRCh38
|
6010402 |
c.1347G>A |
p.E449E |
Chr.2:
174800149-174800149
on Build GRCh38
|
4086874 |
c.885C>T |
p.I295I |
Chr.2:
174800236-174800236
on Build GRCh38
|
4523362 |
c.835G>A |
p.V279M |
Chr.2:
174800286-174800286
on Build GRCh38
|