4444281 |
c.278T>A |
p.I93N |
Chr.1:
85081408-85081408
on Build GRCh38
|
912643 |
c.195T>C |
p.P65P |
Chr.1:
85081325-85081325
on Build GRCh38
|
1344575 |
c.163C>T |
p.R55* |
Chr.1:
85081293-85081293
on Build GRCh38
|
4447474 |
c.285+3A>G |
p.? |
Chr.1:
85081418-85081418
on Build GRCh38
|
4530425 |
c.169G>A |
p.D57N |
Chr.1:
85081299-85081299
on Build GRCh38
|
2243892 |
c.164G>A |
p.R55Q |
Chr.1:
85081294-85081294
on Build GRCh38
|
2243894 |
c.203T>C |
p.L68P |
Chr.1:
85081333-85081333
on Build GRCh38
|
6489871 |
c.281T>C |
p.V94A |
Chr.1:
85081411-85081411
on Build GRCh38
|
2243893 |
c.164G>T |
p.R55L |
Chr.1:
85081294-85081294
on Build GRCh38
|
4167719 |
c.270_271insA |
p.I93fs*9 |
Chr.1:
85081400-85081401
on Build GRCh38
|
2243898 |
c.271delA |
p.I93fs*37 |
Chr.1:
85081401-85081401
on Build GRCh38
|
2243897 |
c.240C>T |
p.N80N |
Chr.1:
85081370-85081370
on Build GRCh38
|
912642 |
c.117T>G |
p.I39M |
Chr.1:
85081247-85081247
on Build GRCh38
|
465008 |
c.161G>A |
p.C54Y |
Chr.1:
85081291-85081291
on Build GRCh38
|
6127385 |
c.242G>T |
p.R81I |
Chr.1:
85081372-85081372
on Build GRCh38
|
98301 |
c.245C>A |
p.A82D |
Chr.1:
85081375-85081375
on Build GRCh38
|
465009 |
c.168A>G |
p.I56M |
Chr.1:
85081298-85081298
on Build GRCh38
|
4532068 |
c.184G>C |
p.D62H |
Chr.1:
85081314-85081314
on Build GRCh38
|
6064115 |
c.187G>T |
p.E63* |
Chr.1:
85081317-85081317
on Build GRCh38
|
258365 |
c.278T>G |
p.I93S |
Chr.1:
85081408-85081408
on Build GRCh38
|
6064114 |
c.249A>T |
p.A83A |
Chr.1:
85081379-85081379
on Build GRCh38
|
6899790 |
c.285G>A |
p.Q95Q |
Chr.1:
85081415-85081415
on Build GRCh38
|
4010270 |
c.145C>A |
p.Q49K |
Chr.1:
85081275-85081275
on Build GRCh38
|
6127384 |
c.269T>G |
p.V90G |
Chr.1:
85081399-85081399
on Build GRCh38
|
1602721 |
c.104-10T>C |
p.? |
Chr.1:
85081224-85081224
on Build GRCh38
|
3977932 |
c.157A>C |
p.N53H |
Chr.1:
85081287-85081287
on Build GRCh38
|