1181750 |
c.167A>G |
p.Y56C |
Chr.1:
3021853-3021853
on Build GRCh38
|
2076418 |
c.397G>C |
p.V133L |
Chr.1:
3022083-3022083
on Build GRCh38
|
5713020 |
c.158_160delAGA |
p.K55delK |
Chr.1:
3021844-3021846
on Build GRCh38
|
6540014 |
c.176G>T |
p.G59V |
Chr.1:
3021862-3021862
on Build GRCh38
|
5733729 |
c.230G>A |
p.R77H |
Chr.1:
3021916-3021916
on Build GRCh38
|
7227850 |
c.157C>A |
p.Q53K |
Chr.1:
3021843-3021843
on Build GRCh38
|
2076414 |
c.315G>A |
p.Q105Q |
Chr.1:
3022001-3022001
on Build GRCh38
|
7354100 |
c.136G>T |
p.A46S |
Chr.1:
3021822-3021822
on Build GRCh38
|
3734152 |
c.380T>A |
p.M127K |
Chr.1:
3022066-3022066
on Build GRCh38
|
1296272 |
c.321G>A |
p.L107L |
Chr.1:
3022007-3022007
on Build GRCh38
|
4643763 |
c.263G>T |
p.R88I |
Chr.1:
3021949-3021949
on Build GRCh38
|
5735223 |
c.287G>T |
p.W96L |
Chr.1:
3021973-3021973
on Build GRCh38
|
6894369 |
c.393C>G |
p.F131L |
Chr.1:
3022079-3022079
on Build GRCh38
|
5589534 |
c.340C>T |
p.L114L |
Chr.1:
3022026-3022026
on Build GRCh38
|
1686901 |
c.352G>A |
p.E118K |
Chr.1:
3022038-3022038
on Build GRCh38
|
5583247 |
c.167A>T |
p.Y56F |
Chr.1:
3021853-3021853
on Build GRCh38
|
1686902 |
c.385G>C |
p.E129Q |
Chr.1:
3022071-3022071
on Build GRCh38
|
7169161 |
c.143C>T |
p.S48L |
Chr.1:
3021829-3021829
on Build GRCh38
|
6320321 |
c.245G>T |
p.G82V |
Chr.1:
3021931-3021931
on Build GRCh38
|
1740903 |
c.165_167delGTA |
p.K55_Y56>N |
Chr.1:
3021851-3021853
on Build GRCh38
|
6247554 |
c.246G>T |
p.G82G |
Chr.1:
3021932-3021932
on Build GRCh38
|
5380590 |
c.289G>A |
p.E97K |
Chr.1:
3021975-3021975
on Build GRCh38
|
1639834 |
c.142T>G |
p.S48A |
Chr.1:
3021828-3021828
on Build GRCh38
|
534721 |
c.133C>T |
p.Q45* |
Chr.1:
3021819-3021819
on Build GRCh38
|
6024647 |
c.166T>C |
p.Y56H |
Chr.1:
3021852-3021852
on Build GRCh38
|
5353076 |
c.339C>T |
p.S113S |
Chr.1:
3022025-3022025
on Build GRCh38
|
6063066 |
c.255C>A |
p.D85E |
Chr.1:
3021941-3021941
on Build GRCh38
|
680104 |
c.150G>A |
p.E50E |
Chr.1:
3021836-3021836
on Build GRCh38
|
3487838 |
c.226G>A |
p.E76K |
Chr.1:
3021912-3021912
on Build GRCh38
|
1667085 |
c.250G>T |
p.D84Y |
Chr.1:
3021936-3021936
on Build GRCh38
|
680100 |
c.384C>G |
p.F128L |
Chr.1:
3022070-3022070
on Build GRCh38
|
3865256 |
c.338C>T |
p.S113F |
Chr.1:
3022024-3022024
on Build GRCh38
|
265960 |
c.229C>T |
p.R77C |
Chr.1:
3021915-3021915
on Build GRCh38
|
908023 |
c.393C>T |
p.F131F |
Chr.1:
3022079-3022079
on Build GRCh38
|
1341634 |
c.204C>A |
p.A68A |
Chr.1:
3021890-3021890
on Build GRCh38
|
4902096 |
c.387G>A |
p.E129E |
Chr.1:
3022073-3022073
on Build GRCh38
|
1320219 |
c.158A>T |
p.Q53L |
Chr.1:
3021844-3021844
on Build GRCh38
|
133913 |
c.199G>A |
p.E67K |
Chr.1:
3021885-3021885
on Build GRCh38
|
3865255 |
c.253G>A |
p.D85N |
Chr.1:
3021939-3021939
on Build GRCh38
|
4795275 |
c.347C>T |
p.P116L |
Chr.1:
3022033-3022033
on Build GRCh38
|
1341637 |
c.392T>G |
p.F131C |
Chr.1:
3022078-3022078
on Build GRCh38
|
6593169 |
c.297C>T |
p.G99G |
Chr.1:
3021983-3021983
on Build GRCh38
|
4975722 |
c.366G>A |
p.K122K |
Chr.1:
3022052-3022052
on Build GRCh38
|
6009039 |
c.175G>A |
p.G59R |
Chr.1:
3021861-3021861
on Build GRCh38
|
308856 |
c.190T>A |
p.Y64N |
Chr.1:
3021876-3021876
on Build GRCh38
|
1341635 |
c.312C>T |
p.D104D |
Chr.1:
3021998-3021998
on Build GRCh38
|
1341636 |
c.384C>T |
p.F128F |
Chr.1:
3022070-3022070
on Build GRCh38
|
4967507 |
c.156_167>CCAGAAGTA |
p.K55delK |
Chr.1:
3021842-3021853
on Build GRCh38
|