382960 |
c.235G>T |
p.D79Y |
Chr.1:
23559192-23559192
on Build GRCh38
|
6221985 |
c.300+10G>T |
p.? |
Chr.1:
23559117-23559117
on Build GRCh38
|
2049209 |
c.208C>G |
p.L70V |
Chr.1:
23559219-23559219
on Build GRCh38
|
6211071 |
c.167C>A |
p.P56H |
Chr.1:
23559260-23559260
on Build GRCh38
|
5652077 |
c.237C>T |
p.D79D |
Chr.1:
23559190-23559190
on Build GRCh38
|
1159765 |
c.227A>G |
p.Y76C |
Chr.1:
23559200-23559200
on Build GRCh38
|
4751269 |
c.188A>G |
p.Q63R |
Chr.1:
23559239-23559239
on Build GRCh38
|
6976740 |
c.262G>A |
p.A88T |
Chr.1:
23559165-23559165
on Build GRCh38
|
1159745 |
c.228_229insTAC |
p.Y76_I77insY |
Chr.1:
23559198-23559199
on Build GRCh38
|
4691734 |
c.121C>T |
p.L41L |
Chr.1:
23559306-23559306
on Build GRCh38
|
1159733 |
c.143_145delACT |
p.Y48delY |
Chr.1:
23559282-23559284
on Build GRCh38
|
6953688 |
c.275delC |
p.P92fs*>28 |
Chr.1:
23559152-23559152
on Build GRCh38
|
4030066 |
c.284C>A |
p.P95H |
Chr.1:
23559143-23559143
on Build GRCh38
|
6947124 |
c.214C>T |
p.R72C |
Chr.1:
23559213-23559213
on Build GRCh38
|
6205945 |
c.189delG |
p.Q63fs*20 |
Chr.1:
23559238-23559238
on Build GRCh38
|
1159773 |
c.144C>G |
p.Y48* |
Chr.1:
23559283-23559283
on Build GRCh38
|
6125700 |
c.155G>T |
p.R52L |
Chr.1:
23559272-23559272
on Build GRCh38
|
1159771 |
c.157G>A |
p.E53K |
Chr.1:
23559270-23559270
on Build GRCh38
|
1159769 |
c.167C>T |
p.P56L |
Chr.1:
23559260-23559260
on Build GRCh38
|
5652252 |
c.241_242insGACCTGC |
p.Q81fs*15 |
Chr.1:
23559185-23559186
on Build GRCh38
|
1159767 |
c.190C>T |
p.L64F |
Chr.1:
23559237-23559237
on Build GRCh38
|
6208766 |
c.298C>T |
p.Q100* |
Chr.1:
23559129-23559129
on Build GRCh38
|
2049204 |
c.249C>T |
p.V83V |
Chr.1:
23559178-23559178
on Build GRCh38
|
6206332 |
c.245T>C |
p.V82A |
Chr.1:
23559182-23559182
on Build GRCh38
|
2049199 |
c.300+1G>A |
p.? |
Chr.1:
23559126-23559126
on Build GRCh38
|
6206283 |
c.160C>A |
p.L54M |
Chr.1:
23559267-23559267
on Build GRCh38
|
1160909 |
c.130A>G |
p.M44V |
Chr.1:
23559297-23559297
on Build GRCh38
|
6206249 |
c.144C>T |
p.Y48Y |
Chr.1:
23559283-23559283
on Build GRCh38
|
1160907 |
c.300+2T>C |
p.? |
Chr.1:
23559125-23559125
on Build GRCh38
|
6932314 |
c.275C>A |
p.P92H |
Chr.1:
23559152-23559152
on Build GRCh38
|
3977316 |
c.250C>G |
p.L84V |
Chr.1:
23559177-23559177
on Build GRCh38
|
3804538 |
c.200T>G |
p.V67G |
Chr.1:
23559227-23559227
on Build GRCh38
|
6212257 |
c.226T>G |
p.Y76D |
Chr.1:
23559201-23559201
on Build GRCh38
|
35703 |
c.283C>T |
p.P95S |
Chr.1:
23559144-23559144
on Build GRCh38
|
2049210 |
c.202G>T |
p.E68* |
Chr.1:
23559225-23559225
on Build GRCh38
|
1159764 |
c.277G>A |
p.D93N |
Chr.1:
23559150-23559150
on Build GRCh38
|
5652078 |
c.209T>C |
p.L70P |
Chr.1:
23559218-23559218
on Build GRCh38
|
1159741 |
c.206delT |
p.I69fs*14 |
Chr.1:
23559221-23559221
on Build GRCh38
|
5467971 |
c.287A>G |
p.H96R |
Chr.1:
23559140-23559140
on Build GRCh38
|
6953490 |
c.292C>T |
p.P98S |
Chr.1:
23559135-23559135
on Build GRCh38
|
4746797 |
c.127_129delGAC |
p.D43delD |
Chr.1:
23559298-23559300
on Build GRCh38
|
4170594 |
c.173T>A |
p.V58D |
Chr.1:
23559254-23559254
on Build GRCh38
|
1159772 |
c.154C>T |
p.R52W |
Chr.1:
23559273-23559273
on Build GRCh38
|
1159770 |
c.166C>T |
p.P56S |
Chr.1:
23559261-23559261
on Build GRCh38
|
6205905 |
c.166C>A |
p.P56T |
Chr.1:
23559261-23559261
on Build GRCh38
|
1159768 |
c.187C>T |
p.Q63* |
Chr.1:
23559240-23559240
on Build GRCh38
|
6062584 |
c.156G>A |
p.R52R |
Chr.1:
23559271-23559271
on Build GRCh38
|
1159766 |
c.204A>T |
p.E68D |
Chr.1:
23559223-23559223
on Build GRCh38
|
5675906 |
c.196delC |
p.Q66fs*17 |
Chr.1:
23559231-23559231
on Build GRCh38
|
2049200 |
c.300G>A |
p.Q100Q |
Chr.1:
23559127-23559127
on Build GRCh38
|
6210845 |
c.190C>G |
p.L64V |
Chr.1:
23559237-23559237
on Build GRCh38
|
1160910 |
c.120G>TG |
p.L40fs*26 |
Chr.1:
23559307-23559307
on Build GRCh38
|
6206389 |
c.143A>G |
p.Y48C |
Chr.1:
23559284-23559284
on Build GRCh38
|
1160908 |
c.241C>T |
p.Q81* |
Chr.1:
23559186-23559186
on Build GRCh38
|
6206319 |
c.166C>G |
p.P56A |
Chr.1:
23559261-23559261
on Build GRCh38
|
6206256 |
c.141C>A |
p.C47* |
Chr.1:
23559286-23559286
on Build GRCh38
|