4583649 |
c.915A>G |
p.A305A |
Chr.2:
74522890-74522890
on Build GRCh38
|
4679344 |
c.1376C>G |
p.S459* |
Chr.2:
74522699-74522699
on Build GRCh38
|
6528363 |
c.998C>G |
p.A333G |
Chr.2:
74522723-74522723
on Build GRCh38
|
4679346 |
c.1255_1256insA |
p.R419fs*36 |
Chr.2:
74522903-74522904
on Build GRCh38
|
6564173 |
c.865G>A |
p.E289K |
Chr.2:
74522940-74522940
on Build GRCh38
|
6528362 |
c.1352C>G |
p.A451G |
Chr.2:
74522723-74522723
on Build GRCh38
|
3840058 |
c.955G>T |
p.E319* |
Chr.2:
74522766-74522766
on Build GRCh38
|
6564172 |
c.1219G>A |
p.E407K |
Chr.2:
74522940-74522940
on Build GRCh38
|
6649194 |
c.925delG |
p.E309fs*13 |
Chr.2:
74522880-74522880
on Build GRCh38
|
3583399 |
c.903G>A |
p.R301R |
Chr.2:
74522902-74522902
on Build GRCh38
|
6254310 |
c.1268C>A |
p.A423E |
Chr.2:
74522891-74522891
on Build GRCh38
|
4583648 |
c.1269A>G |
p.A423A |
Chr.2:
74522890-74522890
on Build GRCh38
|
7134971 |
c.1317G>A |
p.L439L |
Chr.2:
74522758-74522758
on Build GRCh38
|
4463406 |
c.936C>T |
p.F312F |
Chr.2:
74522869-74522869
on Build GRCh38
|
3840057 |
c.1309G>T |
p.E437* |
Chr.2:
74522766-74522766
on Build GRCh38
|
1023039 |
c.872A>G |
p.N291S |
Chr.2:
74522933-74522933
on Build GRCh38
|
320000 |
c.955G>A |
p.E319K |
Chr.2:
74522766-74522766
on Build GRCh38
|
6649214 |
c.914C>T |
p.A305V |
Chr.2:
74522891-74522891
on Build GRCh38
|
6158835 |
c.976G>A |
p.E326K |
Chr.2:
74522745-74522745
on Build GRCh38
|
4908819 |
c.911T>C |
p.I304T |
Chr.2:
74522894-74522894
on Build GRCh38
|
341324 |
c.922G>C |
p.G308R |
Chr.2:
74522883-74522883
on Build GRCh38
|
6158834 |
c.1330G>A |
p.E444K |
Chr.2:
74522745-74522745
on Build GRCh38
|
1592424 |
c.1226A>G |
p.N409S |
Chr.2:
74522933-74522933
on Build GRCh38
|
4463405 |
c.1290C>T |
p.F430F |
Chr.2:
74522869-74522869
on Build GRCh38
|
6649213 |
c.1268C>T |
p.A423V |
Chr.2:
74522891-74522891
on Build GRCh38
|
3583398 |
c.1257G>A |
p.R419R |
Chr.2:
74522902-74522902
on Build GRCh38
|
6254311 |
c.914C>A |
p.A305E |
Chr.2:
74522891-74522891
on Build GRCh38
|
7134972 |
c.963G>A |
p.L321L |
Chr.2:
74522758-74522758
on Build GRCh38
|
4679345 |
c.1022C>G |
p.S341* |
Chr.2:
74522699-74522699
on Build GRCh38
|
4679347 |
c.901_902insA |
p.R301fs*36 |
Chr.2:
74522903-74522904
on Build GRCh38
|
6649193 |
c.1279delG |
p.E427fs*13 |
Chr.2:
74522880-74522880
on Build GRCh38
|
4908818 |
c.1265T>C |
p.I422T |
Chr.2:
74522894-74522894
on Build GRCh38
|