278446 |
c.217G>T |
p.V73L |
Chr.2:
115343879-115343879
on Build GRCh38
|
4084344 |
c.214G>C |
p.E72Q |
Chr.2:
115343855-115343855
on Build GRCh38
|
3040484 |
c.253G>T |
p.E85* |
Chr.2:
115343894-115343894
on Build GRCh38
|
363332 |
c.186G>A |
p.L62L |
Chr.2:
115343848-115343848
on Build GRCh38
|
1005742 |
c.170C>T |
p.S57L |
Chr.2:
115343832-115343832
on Build GRCh38
|
1481872 |
c.201C>T |
p.L67L |
Chr.2:
115343863-115343863
on Build GRCh38
|
716176 |
c.200C>G |
p.T67S |
Chr.2:
115343841-115343841
on Build GRCh38
|
4829578 |
c.175G>T |
p.E59* |
Chr.2:
115343837-115343837
on Build GRCh38
|
1284610 |
c.250C>A |
p.P84T |
Chr.2:
115343891-115343891
on Build GRCh38
|
1284611 |
c.229C>A |
p.P77T |
Chr.2:
115343891-115343891
on Build GRCh38
|
5928262 |
c.178G>A |
p.E60K |
Chr.2:
115343819-115343819
on Build GRCh38
|
6648880 |
c.271C>T |
p.R91W |
Chr.2:
115343900-115343900
on Build GRCh38
|
4084345 |
c.193G>C |
p.E65Q |
Chr.2:
115343855-115343855
on Build GRCh38
|
3836639 |
c.246C>T |
p.H82H |
Chr.2:
115343887-115343887
on Build GRCh38
|
5834235 |
c.234C>T |
p.L78L |
Chr.2:
115343863-115343863
on Build GRCh38
|
1005741 |
c.191C>T |
p.S64L |
Chr.2:
115343832-115343832
on Build GRCh38
|
5834237 |
c.283+1G>C |
p.? |
Chr.2:
115343913-115343913
on Build GRCh38
|
6087344 |
c.231A>G |
p.P77P |
Chr.2:
115343893-115343893
on Build GRCh38
|
5928261 |
c.190G>A |
p.E64K |
Chr.2:
115343819-115343819
on Build GRCh38
|
5499985 |
c.192G>T |
p.S64S |
Chr.2:
115343833-115343833
on Build GRCh38
|
7365373 |
c.265G>T |
p.E89* |
Chr.2:
115343894-115343894
on Build GRCh38
|
3040485 |
c.232G>T |
p.E78* |
Chr.2:
115343894-115343894
on Build GRCh38
|
6339044 |
c.194C>G |
p.S65* |
Chr.2:
115343835-115343835
on Build GRCh38
|
5499986 |
c.171G>T |
p.S57S |
Chr.2:
115343833-115343833
on Build GRCh38
|
6087342 |
c.264A>G |
p.P88P |
Chr.2:
115343893-115343893
on Build GRCh38
|
3836640 |
c.225C>T |
p.H75H |
Chr.2:
115343887-115343887
on Build GRCh38
|
3364228 |
c.225C>G |
p.H75Q |
Chr.2:
115343887-115343887
on Build GRCh38
|
716177 |
c.179C>G |
p.T60S |
Chr.2:
115343841-115343841
on Build GRCh38
|
6542947 |
c.272G>T |
p.R91L |
Chr.2:
115343901-115343901
on Build GRCh38
|
3565566 |
c.250C>T |
p.P84S |
Chr.2:
115343891-115343891
on Build GRCh38
|
1481873 |
c.271+1G>C |
p.? |
Chr.2:
115343913-115343913
on Build GRCh38
|
4084346 |
c.268A>G |
p.N90D |
Chr.2:
115343909-115343909
on Build GRCh38
|
6648882 |
c.238C>T |
p.R80W |
Chr.2:
115343900-115343900
on Build GRCh38
|
3040486 |
c.260G>T |
p.R87L |
Chr.2:
115343901-115343901
on Build GRCh38
|
4538764 |
c.247G>A |
p.D83N |
Chr.2:
115343888-115343888
on Build GRCh38
|
3565567 |
c.229C>T |
p.P77S |
Chr.2:
115343891-115343891
on Build GRCh38
|
36718 |
c.245T>A |
p.I82N |
Chr.2:
115343907-115343907
on Build GRCh38
|
3708835 |
c.202A>G |
p.R68G |
Chr.2:
115343843-115343843
on Build GRCh38
|
5928263 |
c.157G>A |
p.E53K |
Chr.2:
115343819-115343819
on Build GRCh38
|
1481874 |
c.250+1G>C |
p.? |
Chr.2:
115343913-115343913
on Build GRCh38
|
716174 |
c.230A>T |
p.K77I |
Chr.2:
115343871-115343871
on Build GRCh38
|
4538765 |
c.226G>A |
p.D76N |
Chr.2:
115343888-115343888
on Build GRCh38
|
4084347 |
c.247A>G |
p.N83D |
Chr.2:
115343909-115343909
on Build GRCh38
|
6648881 |
c.259C>T |
p.R87W |
Chr.2:
115343900-115343900
on Build GRCh38
|
3708836 |
c.181A>G |
p.R61G |
Chr.2:
115343843-115343843
on Build GRCh38
|
6339043 |
c.206C>G |
p.S69* |
Chr.2:
115343835-115343835
on Build GRCh38
|
6339045 |
c.173C>G |
p.S58* |
Chr.2:
115343835-115343835
on Build GRCh38
|
3364227 |
c.246C>G |
p.H82Q |
Chr.2:
115343887-115343887
on Build GRCh38
|
5834236 |
c.258C>T |
p.H86H |
Chr.2:
115343887-115343887
on Build GRCh38
|
5520643 |
c.218A>G |
p.D73G |
Chr.2:
115343859-115343859
on Build GRCh38
|
5911624 |
c.259G>A |
p.D87N |
Chr.2:
115343888-115343888
on Build GRCh38
|
1204484 |
c.260G>A |
p.R87Q |
Chr.2:
115343901-115343901
on Build GRCh38
|
3040487 |
c.239G>T |
p.R80L |
Chr.2:
115343901-115343901
on Build GRCh38
|
5520644 |
c.197A>G |
p.D66G |
Chr.2:
115343859-115343859
on Build GRCh38
|
6087343 |
c.252A>G |
p.P84P |
Chr.2:
115343893-115343893
on Build GRCh38
|
1204485 |
c.239G>A |
p.R80Q |
Chr.2:
115343901-115343901
on Build GRCh38
|
363331 |
c.207G>A |
p.L69L |
Chr.2:
115343848-115343848
on Build GRCh38
|
4829577 |
c.196G>T |
p.E66* |
Chr.2:
115343837-115343837
on Build GRCh38
|
716175 |
c.209A>T |
p.K70I |
Chr.2:
115343871-115343871
on Build GRCh38
|
278447 |
c.238G>T |
p.V80L |
Chr.2:
115343879-115343879
on Build GRCh38
|
1481871 |
c.222C>T |
p.L74L |
Chr.2:
115343863-115343863
on Build GRCh38
|