364501 |
c.599G>A |
p.R200Q |
Chr.2:
74523401-74523401
on Build GRCh38
|
6528365 |
c.782T>G |
p.F261C |
Chr.2:
74523127-74523127
on Build GRCh38
|
4679348 |
c.949G>A |
p.A317T |
Chr.2:
74523405-74523405
on Build GRCh38
|
2157373 |
c.626_627delCT |
p.A209fs*26 |
Chr.2:
74523373-74523374
on Build GRCh38
|
576007 |
c.535G>A |
p.V179I |
Chr.2:
74523465-74523465
on Build GRCh38
|
5789256 |
c.921C>G |
p.A307A |
Chr.2:
74523433-74523433
on Build GRCh38
|
6649190 |
c.701C>T |
p.P234L |
Chr.2:
74523208-74523208
on Build GRCh38
|
3583403 |
c.470C>T |
p.S157F |
Chr.2:
74523530-74523530
on Build GRCh38
|
3673735 |
c.1039C>A |
p.R347R |
Chr.2:
74523315-74523315
on Build GRCh38
|
1649837 |
c.889G>A |
p.V297I |
Chr.2:
74523465-74523465
on Build GRCh38
|
6314740 |
c.562C>A |
p.R188R |
Chr.2:
74523438-74523438
on Build GRCh38
|
1471368 |
c.768G>A |
p.L256L |
Chr.2:
74523141-74523141
on Build GRCh38
|
5518301 |
c.763C>T |
p.R255* |
Chr.2:
74523146-74523146
on Build GRCh38
|
6455697 |
c.568G>T |
p.V190F |
Chr.2:
74523432-74523432
on Build GRCh38
|
6314739 |
c.916C>A |
p.R306R |
Chr.2:
74523438-74523438
on Build GRCh38
|
6346779 |
c.909C>A |
p.D303E |
Chr.2:
74523445-74523445
on Build GRCh38
|
1683857 |
c.987_989delCTC |
p.S330delS |
Chr.2:
74523365-74523367
on Build GRCh38
|
3357611 |
c.1045-8G>A |
p.? |
Chr.2:
74523226-74523226
on Build GRCh38
|
6649212 |
c.710G>A |
p.R237Q |
Chr.2:
74523199-74523199
on Build GRCh38
|
3357612 |
c.691-8G>A |
p.? |
Chr.2:
74523226-74523226
on Build GRCh38
|
6649209 |
c.993C>T |
p.F331F |
Chr.2:
74523361-74523361
on Build GRCh38
|
1190718 |
c.781delT |
p.F261fs*15 |
Chr.2:
74523128-74523128
on Build GRCh38
|
6895102 |
c.592G>C |
p.D198H |
Chr.2:
74523408-74523408
on Build GRCh38
|
4095809 |
c.685C>T |
p.R229* |
Chr.2:
74523315-74523315
on Build GRCh38
|
6230487 |
c.477C>T |
p.C159C |
Chr.2:
74523523-74523523
on Build GRCh38
|
5031183 |
c.571C>T |
p.Q191* |
Chr.2:
74523429-74523429
on Build GRCh38
|
4095813 |
c.596C>T |
p.A199V |
Chr.2:
74523404-74523404
on Build GRCh38
|
6230486 |
c.831C>T |
p.C277C |
Chr.2:
74523523-74523523
on Build GRCh38
|
6649196 |
c.598C>T |
p.R200* |
Chr.2:
74523402-74523402
on Build GRCh38
|
6649189 |
c.1055C>T |
p.P352L |
Chr.2:
74523208-74523208
on Build GRCh38
|
5978395 |
c.1040G>A |
p.R347Q |
Chr.2:
74523314-74523314
on Build GRCh38
|
5987536 |
c.946G>A |
p.D316N |
Chr.2:
74523408-74523408
on Build GRCh38
|
4679351 |
c.481G>A |
p.E161K |
Chr.2:
74523519-74523519
on Build GRCh38
|
4095808 |
c.1039C>T |
p.R347* |
Chr.2:
74523315-74523315
on Build GRCh38
|
6010170 |
c.917G>T |
p.R306L |
Chr.2:
74523437-74523437
on Build GRCh38
|
5987537 |
c.592G>A |
p.D198N |
Chr.2:
74523408-74523408
on Build GRCh38
|
4746096 |
c.505T>A |
p.S169T |
Chr.2:
74523495-74523495
on Build GRCh38
|
6649201 |
c.1095C>A |
p.S365R |
Chr.2:
74523168-74523168
on Build GRCh38
|
6010171 |
c.563G>T |
p.R188L |
Chr.2:
74523437-74523437
on Build GRCh38
|
4095812 |
c.950C>T |
p.A317V |
Chr.2:
74523404-74523404
on Build GRCh38
|
6455696 |
c.922G>T |
p.V308F |
Chr.2:
74523432-74523432
on Build GRCh38
|
1683858 |
c.633_635delCTC |
p.S212delS |
Chr.2:
74523365-74523367
on Build GRCh38
|
2157372 |
c.980_981delCT |
p.A327fs*26 |
Chr.2:
74523373-74523374
on Build GRCh38
|
4679350 |
c.835G>A |
p.E279K |
Chr.2:
74523519-74523519
on Build GRCh38
|
576008 |
c.685C>A |
p.R229R |
Chr.2:
74523315-74523315
on Build GRCh38
|
4746095 |
c.859T>A |
p.S287T |
Chr.2:
74523495-74523495
on Build GRCh38
|
6528364 |
c.1136T>G |
p.F379C |
Chr.2:
74523127-74523127
on Build GRCh38
|
5789257 |
c.567C>G |
p.A189A |
Chr.2:
74523433-74523433
on Build GRCh38
|
4382637 |
c.784C>T |
p.P262S |
Chr.2:
74523125-74523125
on Build GRCh38
|
6260022 |
c.626C>A |
p.A209D |
Chr.2:
74523374-74523374
on Build GRCh38
|
5397440 |
c.654C>T |
p.I218I |
Chr.2:
74523346-74523346
on Build GRCh38
|
6290327 |
c.646C>T |
p.P216S |
Chr.2:
74523354-74523354
on Build GRCh38
|
6260021 |
c.980C>A |
p.A327D |
Chr.2:
74523374-74523374
on Build GRCh38
|
5518300 |
c.1117C>T |
p.R373* |
Chr.2:
74523146-74523146
on Build GRCh38
|
6346780 |
c.555C>A |
p.D185E |
Chr.2:
74523445-74523445
on Build GRCh38
|
6290326 |
c.1000C>T |
p.P334S |
Chr.2:
74523354-74523354
on Build GRCh38
|
1483282 |
c.529C>A |
p.P177T |
Chr.2:
74523471-74523471
on Build GRCh38
|
1483281 |
c.883C>A |
p.P295T |
Chr.2:
74523471-74523471
on Build GRCh38
|
4382636 |
c.1138C>T |
p.P380S |
Chr.2:
74523125-74523125
on Build GRCh38
|
5031182 |
c.925C>T |
p.Q309* |
Chr.2:
74523429-74523429
on Build GRCh38
|
6649211 |
c.1064G>A |
p.R355Q |
Chr.2:
74523199-74523199
on Build GRCh38
|
4095807 |
c.769C>T |
p.R257* |
Chr.2:
74523140-74523140
on Build GRCh38
|
4095811 |
c.631T>G |
p.F211V |
Chr.2:
74523369-74523369
on Build GRCh38
|
3583402 |
c.824C>T |
p.S275F |
Chr.2:
74523530-74523530
on Build GRCh38
|
6895101 |
c.946G>C |
p.D316H |
Chr.2:
74523408-74523408
on Build GRCh38
|
5397439 |
c.1008C>T |
p.I336I |
Chr.2:
74523346-74523346
on Build GRCh38
|
2999797 |
c.1021G>A |
p.D341N |
Chr.2:
74523333-74523333
on Build GRCh38
|
6649195 |
c.952C>T |
p.R318* |
Chr.2:
74523402-74523402
on Build GRCh38
|
6649202 |
c.741C>A |
p.S247R |
Chr.2:
74523168-74523168
on Build GRCh38
|
2999798 |
c.667G>A |
p.D223N |
Chr.2:
74523333-74523333
on Build GRCh38
|
4679349 |
c.595G>A |
p.A199T |
Chr.2:
74523405-74523405
on Build GRCh38
|
4095806 |
c.1123C>T |
p.R375* |
Chr.2:
74523140-74523140
on Build GRCh38
|
5994229 |
c.1118G>A |
p.R373Q |
Chr.2:
74523145-74523145
on Build GRCh38
|
5978396 |
c.686G>A |
p.R229Q |
Chr.2:
74523314-74523314
on Build GRCh38
|
5994230 |
c.764G>A |
p.R255Q |
Chr.2:
74523145-74523145
on Build GRCh38
|
4095810 |
c.985T>G |
p.F329V |
Chr.2:
74523369-74523369
on Build GRCh38
|
1471367 |
c.1122G>A |
p.L374L |
Chr.2:
74523141-74523141
on Build GRCh38
|
6649210 |
c.639C>T |
p.F213F |
Chr.2:
74523361-74523361
on Build GRCh38
|