5214914 |
c.55G>T |
p.A19S |
Chr.2:
130931012-130931012
on Build GRCh38
|
6087592 |
c.122G>C |
p.C41S |
Chr.2:
130931079-130931079
on Build GRCh38
|
5343719 |
c.123C>A |
p.C41* |
Chr.2:
130931080-130931080
on Build GRCh38
|
6604332 |
c.171C>A |
p.G57G |
Chr.2:
130931128-130931128
on Build GRCh38
|
441124 |
c.55G>T |
p.A19S |
Chr.2:
130931012-130931012
on Build GRCh38
|
5164231 |
c.150G>T |
p.E50D |
Chr.2:
130931107-130931107
on Build GRCh38
|
6087591 |
c.122G>C |
p.C41S |
Chr.2:
130931079-130931079
on Build GRCh38
|
4952140 |
c.169G>C |
p.G57R |
Chr.2:
130931126-130931126
on Build GRCh38
|
4394319 |
c.168G>A |
p.R56R |
Chr.2:
130931125-130931125
on Build GRCh38
|
4394320 |
c.168G>A |
p.R56R |
Chr.2:
130931125-130931125
on Build GRCh38
|
1683242 |
c.6_7insA |
p.W3fs*7 |
Chr.2:
130930963-130930964
on Build GRCh38
|
3757625 |
c.57G>A |
p.A19A |
Chr.2:
130931014-130931014
on Build GRCh38
|
1183535 |
c.238C>T |
p.Q80* |
Chr.2:
130931195-130931195
on Build GRCh38
|
5343720 |
c.123C>A |
p.C41* |
Chr.2:
130931080-130931080
on Build GRCh38
|
3114959 |
c.92C>A |
p.T31N |
Chr.2:
130931049-130931049
on Build GRCh38
|
3114967 |
c.180C>A |
p.H60Q |
Chr.2:
130931137-130931137
on Build GRCh38
|
3757624 |
c.57G>A |
p.A19A |
Chr.2:
130931014-130931014
on Build GRCh38
|
6528437 |
c.110G>C |
p.W37S |
Chr.2:
130931067-130931067
on Build GRCh38
|
4084840 |
c.58T>C |
p.F20L |
Chr.2:
130931015-130931015
on Build GRCh38
|
5508668 |
c.182G>A |
p.R61H |
Chr.2:
130931139-130931139
on Build GRCh38
|
5584489 |
c.110G>A |
p.W37* |
Chr.2:
130931067-130931067
on Build GRCh38
|
4084839 |
c.58T>C |
p.F20L |
Chr.2:
130931015-130931015
on Build GRCh38
|
6509755 |
c.181C>A |
p.R61S |
Chr.2:
130931138-130931138
on Build GRCh38
|
5589732 |
c.174C>T |
p.I58I |
Chr.2:
130931131-130931131
on Build GRCh38
|
4084841 |
c.190G>A |
p.V64I |
Chr.2:
130931147-130931147
on Build GRCh38
|
5508667 |
c.182G>A |
p.R61H |
Chr.2:
130931139-130931139
on Build GRCh38
|
715785 |
c.90C>A |
p.F30L |
Chr.2:
130931047-130931047
on Build GRCh38
|
318768 |
c.110G>T |
p.W37L |
Chr.2:
130931067-130931067
on Build GRCh38
|
3114960 |
c.92C>A |
p.T31N |
Chr.2:
130931049-130931049
on Build GRCh38
|
1399395 |
c.150G>T |
p.E50D |
Chr.2:
130931107-130931107
on Build GRCh38
|
3114968 |
c.180C>A |
p.H60Q |
Chr.2:
130931137-130931137
on Build GRCh38
|
4136159 |
c.35G>T |
p.S12I |
Chr.2:
130930992-130930992
on Build GRCh38
|
4136160 |
c.35G>T |
p.S12I |
Chr.2:
130930992-130930992
on Build GRCh38
|
7356360 |
c.164C>A |
p.P55H |
Chr.2:
130931121-130931121
on Build GRCh38
|
7356359 |
c.164C>A |
p.P55H |
Chr.2:
130931121-130931121
on Build GRCh38
|
6604331 |
c.171C>A |
p.G57G |
Chr.2:
130931128-130931128
on Build GRCh38
|
3566444 |
c.6C>T |
p.P2P |
Chr.2:
130930963-130930963
on Build GRCh38
|
3566446 |
c.225G>A |
p.Q75Q |
Chr.2:
130931182-130931182
on Build GRCh38
|
1683241 |
c.6_7insA |
p.W3fs*7 |
Chr.2:
130930963-130930964
on Build GRCh38
|
6528438 |
c.110G>C |
p.W37S |
Chr.2:
130931067-130931067
on Build GRCh38
|
4952141 |
c.169G>C |
p.G57R |
Chr.2:
130931126-130931126
on Build GRCh38
|
3566443 |
c.6C>T |
p.P2P |
Chr.2:
130930963-130930963
on Build GRCh38
|
5589733 |
c.174C>T |
p.I58I |
Chr.2:
130931131-130931131
on Build GRCh38
|
6509756 |
c.181C>A |
p.R61S |
Chr.2:
130931138-130931138
on Build GRCh38
|
3566445 |
c.225G>A |
p.Q75Q |
Chr.2:
130931182-130931182
on Build GRCh38
|
4084842 |
c.190G>A |
p.V64I |
Chr.2:
130931147-130931147
on Build GRCh38
|
5584490 |
c.110G>A |
p.W37* |
Chr.2:
130931067-130931067
on Build GRCh38
|