6158763 |
c.392G>A |
p.S131N |
Chr.2:
79122911-79122911
on Build GRCh38
|
1409666 |
c.397A>G |
p.N133D |
Chr.2:
79122916-79122916
on Build GRCh38
|
6158764 |
c.372G>T |
p.W124C |
Chr.2:
79122891-79122891
on Build GRCh38
|
3583538 |
c.338G>A |
p.W113* |
Chr.2:
79122857-79122857
on Build GRCh38
|
1615141 |
c.384C>A |
p.A128A |
Chr.2:
79122903-79122903
on Build GRCh38
|
3583539 |
c.339G>A |
p.W113* |
Chr.2:
79122858-79122858
on Build GRCh38
|
167473 |
c.329G>A |
p.R110H |
Chr.2:
79122848-79122848
on Build GRCh38
|
3583540 |
c.350C>T |
p.S117F |
Chr.2:
79122869-79122869
on Build GRCh38
|
6411617 |
c.388A>G |
p.S130G |
Chr.2:
79122907-79122907
on Build GRCh38
|
7246573 |
c.341G>T |
p.S114I |
Chr.2:
79122860-79122860
on Build GRCh38
|
5538103 |
c.347G>A |
p.G116E |
Chr.2:
79122866-79122866
on Build GRCh38
|
6467428 |
c.429C>T |
p.S143S |
Chr.2:
79122948-79122948
on Build GRCh38
|
1724629 |
c.323_324insC |
p.R109fs*25 |
Chr.2:
79122842-79122843
on Build GRCh38
|
1752679 |
c.326G>A |
p.R109H |
Chr.2:
79122845-79122845
on Build GRCh38
|
1023178 |
c.328C>T |
p.R110C |
Chr.2:
79122847-79122847
on Build GRCh38
|
6030063 |
c.358T>A |
p.S120T |
Chr.2:
79122877-79122877
on Build GRCh38
|
722355 |
c.425C>T |
p.S142L |
Chr.2:
79122944-79122944
on Build GRCh38
|
1023179 |
c.396T>C |
p.V132V |
Chr.2:
79122915-79122915
on Build GRCh38
|
6092216 |
c.322-2A>G |
p.? |
Chr.2:
79122839-79122839
on Build GRCh38
|
4757995 |
c.325C>T |
p.R109C |
Chr.2:
79122844-79122844
on Build GRCh38
|
722356 |
c.410G>T |
p.C137F |
Chr.2:
79122929-79122929
on Build GRCh38
|
722357 |
c.330C>A |
p.R110R |
Chr.2:
79122849-79122849
on Build GRCh38
|
125811 |
c.385C>A |
p.P129T |
Chr.2:
79122904-79122904
on Build GRCh38
|
4893103 |
c.368C>T |
p.S123F |
Chr.2:
79122887-79122887
on Build GRCh38
|
6158762 |
c.392G>T |
p.S131I |
Chr.2:
79122911-79122911
on Build GRCh38
|
7081453 |
c.410G>A |
p.C137Y |
Chr.2:
79122929-79122929
on Build GRCh38
|
443255 |
c.393T>C |
p.S131S |
Chr.2:
79122912-79122912
on Build GRCh38
|
7116829 |
c.383C>T |
p.A128V |
Chr.2:
79122902-79122902
on Build GRCh38
|
4441377 |
c.403G>A |
p.G135S |
Chr.2:
79122922-79122922
on Build GRCh38
|
3000600 |
c.345T>A |
p.S115R |
Chr.2:
79122864-79122864
on Build GRCh38
|
323023 |
c.329G>C |
p.R110P |
Chr.2:
79122848-79122848
on Build GRCh38
|
5604677 |
c.379G>A |
p.G127R |
Chr.2:
79122898-79122898
on Build GRCh38
|
220194 |
c.365A>C |
p.K122T |
Chr.2:
79122884-79122884
on Build GRCh38
|
5615130 |
c.386C>G |
p.P129R |
Chr.2:
79122905-79122905
on Build GRCh38
|
272081 |
c.359C>T |
p.S120F |
Chr.2:
79122878-79122878
on Build GRCh38
|
5624436 |
c.365A>G |
p.K122R |
Chr.2:
79122884-79122884
on Build GRCh38
|
7387165 |
c.380G>A |
p.G127E |
Chr.2:
79122899-79122899
on Build GRCh38
|
3963120 |
c.414G>T |
p.V138V |
Chr.2:
79122933-79122933
on Build GRCh38
|
3963121 |
c.422C>A |
p.T141N |
Chr.2:
79122941-79122941
on Build GRCh38
|