5522677 |
c.1547C>T |
p.S516F |
Chr.8:
100140707-100140707
on Build GRCh38
|
4564920 |
c.1547_1548CC>TT |
p.S516F |
Chr.8:
100140706-100140707
on Build GRCh38
|
5522680 |
c.1548C>T |
p.S516S |
Chr.8:
100140706-100140706
on Build GRCh38
|
7142042 |
c.1528C>A |
p.L510I |
Chr.8:
100140726-100140726
on Build GRCh38
|
4162555 |
c.1442A>T |
p.E481V |
Chr.8:
100140710-100140710
on Build GRCh38
|
1094283 |
c.1409G>T |
p.R470I |
Chr.8:
100140743-100140743
on Build GRCh38
|
7142044 |
c.1426C>A |
p.L476I |
Chr.8:
100140726-100140726
on Build GRCh38
|
3268974 |
c.1541delT |
p.L514fs*1 |
Chr.8:
100140713-100140713
on Build GRCh38
|
6662309 |
c.1452A>G |
p.G484G |
Chr.8:
100140802-100140802
on Build GRCh38
|
3268977 |
c.1511G>A |
p.R504K |
Chr.8:
100140743-100140743
on Build GRCh38
|
5522679 |
c.1445C>T |
p.S482F |
Chr.8:
100140707-100140707
on Build GRCh38
|
4564922 |
c.1445_1446CC>TT |
p.S482F |
Chr.8:
100140706-100140707
on Build GRCh38
|
5522682 |
c.1446C>T |
p.S482S |
Chr.8:
100140706-100140706
on Build GRCh38
|
4924589 |
c.1435C>T |
p.Q479* |
Chr.8:
100140819-100140819
on Build GRCh38
|
485871 |
c.1370G>A |
p.G457D |
Chr.8:
100140782-100140782
on Build GRCh38
|
3268975 |
c.1439delT |
p.L480fs*1 |
Chr.8:
100140713-100140713
on Build GRCh38
|
3268978 |
c.1409G>A |
p.R470K |
Chr.8:
100140743-100140743
on Build GRCh38
|
6662311 |
c.1350A>G |
p.G450G |
Chr.8:
100140802-100140802
on Build GRCh38
|
485869 |
c.1472G>A |
p.G491D |
Chr.8:
100140782-100140782
on Build GRCh38
|
1551107 |
c.1528C>G |
p.L510V |
Chr.8:
100140726-100140726
on Build GRCh38
|
7088165 |
c.1356C>T |
p.I452I |
Chr.8:
100140796-100140796
on Build GRCh38
|
7088163 |
c.1458C>T |
p.I486I |
Chr.8:
100140796-100140796
on Build GRCh38
|
4162553 |
c.1544A>T |
p.E515V |
Chr.8:
100140710-100140710
on Build GRCh38
|
5068014 |
c.1469G>T |
p.S490I |
Chr.8:
100140683-100140683
on Build GRCh38
|
1094281 |
c.1511G>T |
p.R504I |
Chr.8:
100140743-100140743
on Build GRCh38
|
3995796 |
c.1384G>C |
p.D462H |
Chr.8:
100140768-100140768
on Build GRCh38
|
1551109 |
c.1426C>G |
p.L476V |
Chr.8:
100140726-100140726
on Build GRCh38
|
3643255 |
c.1434G>A |
p.M478I |
Chr.8:
100140718-100140718
on Build GRCh38
|
4924591 |
c.1333C>T |
p.Q445* |
Chr.8:
100140819-100140819
on Build GRCh38
|
3995794 |
c.1486G>C |
p.D496H |
Chr.8:
100140768-100140768
on Build GRCh38
|
3643254 |
c.1536G>A |
p.M512I |
Chr.8:
100140718-100140718
on Build GRCh38
|