321144 |
c.371G>T |
p.R124L |
Chr.2:
17931379-17931379
on Build GRCh38
|
3938824 |
c.363C>T |
p.Y121Y |
Chr.2:
17931371-17931371
on Build GRCh38
|
6996158 |
c.282G>T |
p.L94L |
Chr.2:
17931290-17931290
on Build GRCh38
|
4888750 |
c.188C>A |
p.A63D |
Chr.2:
17931196-17931196
on Build GRCh38
|
350519 |
c.228C>A |
p.F76L |
Chr.2:
17931236-17931236
on Build GRCh38
|
6049622 |
c.144T>C |
p.H48H |
Chr.2:
17931152-17931152
on Build GRCh38
|
4694702 |
c.188C>T |
p.A63V |
Chr.2:
17931196-17931196
on Build GRCh38
|
4524211 |
c.125G>A |
p.G42E |
Chr.2:
17931133-17931133
on Build GRCh38
|
6691824 |
c.182G>C |
p.S61T |
Chr.2:
17931190-17931190
on Build GRCh38
|
265534 |
c.242A>G |
p.N81S |
Chr.2:
17931250-17931250
on Build GRCh38
|
1403714 |
c.255delG |
p.K87fs*54 |
Chr.2:
17931263-17931263
on Build GRCh38
|
4694704 |
c.250T>C |
p.Y84H |
Chr.2:
17931258-17931258
on Build GRCh38
|
4694703 |
c.202T>C |
p.Y68H |
Chr.2:
17931210-17931210
on Build GRCh38
|
2710307 |
c.253A>C |
p.T85P |
Chr.2:
17931261-17931261
on Build GRCh38
|
1752156 |
c.148G>T |
p.E50* |
Chr.2:
17931156-17931156
on Build GRCh38
|
3695136 |
c.183T>C |
p.S61S |
Chr.2:
17931191-17931191
on Build GRCh38
|
6498204 |
c.293C>A |
p.S98* |
Chr.2:
17931301-17931301
on Build GRCh38
|
1727921 |
c.152A>T |
p.E51V |
Chr.2:
17931160-17931160
on Build GRCh38
|
441922 |
c.371G>A |
p.R124H |
Chr.2:
17931379-17931379
on Build GRCh38
|
1717600 |
c.384C>A |
p.N128K |
Chr.2:
17931392-17931392
on Build GRCh38
|
5707970 |
c.194A>T |
p.K65M |
Chr.2:
17931202-17931202
on Build GRCh38
|
6691823 |
c.383A>G |
p.N128S |
Chr.2:
17931391-17931391
on Build GRCh38
|
4516726 |
c.221_222CC>TT |
p.S74F |
Chr.2:
17931229-17931230
on Build GRCh38
|
232594 |
c.361T>G |
p.Y121D |
Chr.2:
17931369-17931369
on Build GRCh38
|
7373246 |
c.152A>G |
p.E51G |
Chr.2:
17931160-17931160
on Build GRCh38
|
1641741 |
c.190G>A |
p.D64N |
Chr.2:
17931198-17931198
on Build GRCh38
|
6192271 |
c.210T>C |
p.D70D |
Chr.2:
17931218-17931218
on Build GRCh38
|
4089388 |
c.190G>T |
p.D64Y |
Chr.2:
17931198-17931198
on Build GRCh38
|
3574721 |
c.211C>T |
p.R71W |
Chr.2:
17931219-17931219
on Build GRCh38
|
4898267 |
c.309C>T |
p.I103I |
Chr.2:
17931317-17931317
on Build GRCh38
|
6452112 |
c.328G>A |
p.E110K |
Chr.2:
17931336-17931336
on Build GRCh38
|
1013532 |
c.359G>A |
p.R120H |
Chr.2:
17931367-17931367
on Build GRCh38
|
1013531 |
c.286G>A |
p.V96I |
Chr.2:
17931294-17931294
on Build GRCh38
|
418977 |
c.358C>T |
p.R120C |
Chr.2:
17931366-17931366
on Build GRCh38
|
6442716 |
c.376G>C |
p.E126Q |
Chr.2:
17931384-17931384
on Build GRCh38
|
1013530 |
c.175G>T |
p.D59Y |
Chr.2:
17931183-17931183
on Build GRCh38
|
6347720 |
c.132G>T |
p.L44L |
Chr.2:
17931140-17931140
on Build GRCh38
|
7202257 |
c.137_138insC |
p.C47fs*4 |
Chr.2:
17931145-17931146
on Build GRCh38
|