5884193 |
c.1423C>A |
p.R475S |
Chr.5:
170250786-170250786
on Build GRCh38
|
3614088 |
c.1373C>T |
p.P458L |
Chr.5:
170250836-170250836
on Build GRCh38
|
6856956 |
c.1342A>T |
p.R448* |
Chr.5:
170250867-170250867
on Build GRCh38
|
5466387 |
c.1399G>T |
p.D467Y |
Chr.5:
170250810-170250810
on Build GRCh38
|
1579276 |
c.1345G>C |
p.D449H |
Chr.5:
170250864-170250864
on Build GRCh38
|
5915413 |
c.1324-8C>T |
p.? |
Chr.5:
170250893-170250893
on Build GRCh38
|
365335 |
c.1461T>A |
p.T487T |
Chr.5:
170250748-170250748
on Build GRCh38
|
5612905 |
c.1413C>T |
p.N471N |
Chr.5:
170250796-170250796
on Build GRCh38
|
1435970 |
c.1462G>C |
p.G488R |
Chr.5:
170250747-170250747
on Build GRCh38
|
3827676 |
c.1383C>G |
p.L461L |
Chr.5:
170250826-170250826
on Build GRCh38
|
1435972 |
c.1443A>G |
p.Q481Q |
Chr.5:
170250766-170250766
on Build GRCh38
|
1180997 |
c.1360delA |
p.T454fs*73 |
Chr.5:
170250849-170250849
on Build GRCh38
|
400011 |
c.1375T>A |
p.Y459N |
Chr.5:
170250834-170250834
on Build GRCh38
|
1435974 |
c.1360_1361insA |
p.T454fs*15 |
Chr.5:
170250848-170250849
on Build GRCh38
|
282384 |
c.1469G>A |
p.R490Q |
Chr.5:
170250740-170250740
on Build GRCh38
|
1435976 |
c.1349G>A |
p.S450N |
Chr.5:
170250860-170250860
on Build GRCh38
|
3614082 |
c.1472G>A |
p.G491E |
Chr.5:
170250737-170250737
on Build GRCh38
|
4642975 |
c.1477G>A |
p.E493K |
Chr.5:
170250732-170250732
on Build GRCh38
|
3614084 |
c.1423C>T |
p.R475C |
Chr.5:
170250786-170250786
on Build GRCh38
|
3339120 |
c.1373C>A |
p.P458Q |
Chr.5:
170250836-170250836
on Build GRCh38
|
3614086 |
c.1395C>G |
p.Y465* |
Chr.5:
170250814-170250814
on Build GRCh38
|
5880619 |
c.1424G>T |
p.R475L |
Chr.5:
170250785-170250785
on Build GRCh38
|