4142093 |
c.1482C>A |
p.A494A |
Chr.1:
108934844-108934844
on Build GRCh38
|
4564766 |
c.1431_1432CC>TA |
p.L478M |
Chr.1:
108934894-108934895
on Build GRCh38
|
1626286 |
c.1390T>C |
p.S464P |
Chr.1:
108934936-108934936
on Build GRCh38
|
4142094 |
c.1332C>A |
p.A444A |
Chr.1:
108934844-108934844
on Build GRCh38
|
1666506 |
c.1334_1335insAG |
p.P446fs*>57 |
Chr.1:
108934841-108934842
on Build GRCh38
|
1626287 |
c.1240T>C |
p.S414P |
Chr.1:
108934936-108934936
on Build GRCh38
|
1195240 |
c.1367C>T |
p.T456I |
Chr.1:
108934809-108934809
on Build GRCh38
|
1195239 |
c.1517C>T |
p.T506I |
Chr.1:
108934809-108934809
on Build GRCh38
|
5606259 |
c.1334_1335insA |
p.P446fs*25 |
Chr.1:
108934841-108934842
on Build GRCh38
|
3470759 |
c.1267G>A |
p.E423K |
Chr.1:
108934909-108934909
on Build GRCh38
|
3470757 |
c.1339G>A |
p.V447I |
Chr.1:
108934837-108934837
on Build GRCh38
|
3470758 |
c.1417G>A |
p.E473K |
Chr.1:
108934909-108934909
on Build GRCh38
|
7095118 |
c.1401C>G |
p.L467L |
Chr.1:
108934775-108934775
on Build GRCh38
|
5568447 |
c.1329G>A |
p.S443S |
Chr.1:
108934847-108934847
on Build GRCh38
|
7095117 |
c.1551C>G |
p.L517L |
Chr.1:
108934775-108934775
on Build GRCh38
|
6629806 |
c.1380C>A |
p.P460P |
Chr.1:
108934796-108934796
on Build GRCh38
|
5568446 |
c.1479G>A |
p.S493S |
Chr.1:
108934847-108934847
on Build GRCh38
|
3470756 |
c.1489G>A |
p.V497I |
Chr.1:
108934837-108934837
on Build GRCh38
|
4972784 |
c.1358C>T |
p.S453L |
Chr.1:
108934818-108934818
on Build GRCh38
|
6629808 |
c.1386G>A |
p.A462A |
Chr.1:
108934790-108934790
on Build GRCh38
|
5606258 |
c.1484_1485insA |
p.P496fs*25 |
Chr.1:
108934841-108934842
on Build GRCh38
|
4972783 |
c.1508C>T |
p.S503L |
Chr.1:
108934818-108934818
on Build GRCh38
|
6629805 |
c.1530C>A |
p.P510P |
Chr.1:
108934796-108934796
on Build GRCh38
|
4847242 |
c.1277G>A |
p.G426E |
Chr.1:
108934899-108934899
on Build GRCh38
|
6629807 |
c.1536G>A |
p.A512A |
Chr.1:
108934790-108934790
on Build GRCh38
|
4847241 |
c.1427G>A |
p.G476E |
Chr.1:
108934899-108934899
on Build GRCh38
|
2117249 |
c.1282C>T |
p.L428L |
Chr.1:
108934894-108934894
on Build GRCh38
|
2117241 |
c.1381G>A |
p.A461T |
Chr.1:
108934795-108934795
on Build GRCh38
|
2117248 |
c.1432C>T |
p.L478L |
Chr.1:
108934894-108934894
on Build GRCh38
|
2117240 |
c.1531G>A |
p.A511T |
Chr.1:
108934795-108934795
on Build GRCh38
|
4564767 |
c.1281_1282CC>TA |
p.L428M |
Chr.1:
108934894-108934895
on Build GRCh38
|
1666505 |
c.1484_1485insAG |
p.P496fs*>57 |
Chr.1:
108934841-108934842
on Build GRCh38
|
1718418 |
c.1391delA |
p.K464fs*>38 |
Chr.1:
108934785-108934785
on Build GRCh38
|
1718417 |
c.1541delA |
p.K514fs*>38 |
Chr.1:
108934785-108934785
on Build GRCh38
|