5770054 |
c.579C>G |
p.N193K |
Chr.21:
21292126-21292126
on Build GRCh38
|
1029562 |
c.514C>A |
p.Q172K |
Chr.21:
21292136-21292136
on Build GRCh38
|
478456 |
c.485G>C |
p.R162P |
Chr.21:
21292107-21292107
on Build GRCh38
|
5663428 |
c.559C>A |
p.R187R |
Chr.21:
21292106-21292106
on Build GRCh38
|
5161590 |
c.564C>T |
p.F188F |
Chr.21:
21292111-21292111
on Build GRCh38
|
4164805 |
c.516G>C |
p.Q172H |
Chr.21:
21292138-21292138
on Build GRCh38
|
1029563 |
c.516G>T |
p.Q172H |
Chr.21:
21292138-21292138
on Build GRCh38
|
1216768 |
c.520C>A |
p.L174I |
Chr.21:
21292142-21292142
on Build GRCh38
|
5227771 |
c.576A>T |
p.A192A |
Chr.21:
21292123-21292123
on Build GRCh38
|
6052613 |
c.591G>T |
p.Q197H |
Chr.21:
21292138-21292138
on Build GRCh38
|
5770053 |
c.504C>G |
p.N168K |
Chr.21:
21292126-21292126
on Build GRCh38
|
6244091 |
c.513G>T |
p.L171L |
Chr.21:
21292135-21292135
on Build GRCh38
|
5858454 |
c.559C>T |
p.R187W |
Chr.21:
21292106-21292106
on Build GRCh38
|
1235827 |
c.499G>T |
p.A167S |
Chr.21:
21292121-21292121
on Build GRCh38
|
444309 |
c.501A>T |
p.A167A |
Chr.21:
21292123-21292123
on Build GRCh38
|
4925347 |
c.486G>A |
p.R162R |
Chr.21:
21292108-21292108
on Build GRCh38
|
4100894 |
c.484C>A |
p.R162R |
Chr.21:
21292106-21292106
on Build GRCh38
|
1413463 |
c.489C>T |
p.F163F |
Chr.21:
21292111-21292111
on Build GRCh38
|
6244092 |
c.588G>T |
p.L196L |
Chr.21:
21292135-21292135
on Build GRCh38
|
4100895 |
c.490G>A |
p.A164T |
Chr.21:
21292112-21292112
on Build GRCh38
|
5858453 |
c.484C>T |
p.R162W |
Chr.21:
21292106-21292106
on Build GRCh38
|