3569562 |
c.628G>T |
p.G210* |
Chr.2:
167869667-167869667
on Build GRCh38
|
5917534 |
c.731C>T |
p.S244L |
Chr.2:
167869770-167869770
on Build GRCh38
|
4510575 |
c.841C>T |
p.Q281* |
Chr.2:
167869880-167869880
on Build GRCh38
|
1009034 |
c.705C>A |
p.F235L |
Chr.2:
167869744-167869744
on Build GRCh38
|
3569564 |
c.784C>T |
p.H262Y |
Chr.2:
167869823-167869823
on Build GRCh38
|
6154862 |
c.808C>A |
p.L270M |
Chr.2:
167869847-167869847
on Build GRCh38
|
4519162 |
c.817_818CG>TA |
p.R273* |
Chr.2:
167869856-167869857
on Build GRCh38
|
1009036 |
c.796G>A |
p.V266I |
Chr.2:
167869835-167869835
on Build GRCh38
|
6483149 |
c.918C>A |
p.I306I |
Chr.2:
167869957-167869957
on Build GRCh38
|
4559780 |
c.818G>A |
p.R273Q |
Chr.2:
167869857-167869857
on Build GRCh38
|
1009038 |
c.896G>A |
p.R299Q |
Chr.2:
167869935-167869935
on Build GRCh38
|
4572891 |
c.899T>C |
p.V300A |
Chr.2:
167869938-167869938
on Build GRCh38
|
1240886 |
c.916A>T |
p.I306F |
Chr.2:
167869955-167869955
on Build GRCh38
|
6609223 |
c.919T>C |
p.S307P |
Chr.2:
167869958-167869958
on Build GRCh38
|
3787887 |
c.967C>A |
p.H323N |
Chr.2:
167870006-167870006
on Build GRCh38
|
127409 |
c.636G>T |
p.P212P |
Chr.2:
167869675-167869675
on Build GRCh38
|
1669380 |
c.792A>C |
p.E264D |
Chr.2:
167869831-167869831
on Build GRCh38
|
3895274 |
c.817C>T |
p.R273* |
Chr.2:
167869856-167869856
on Build GRCh38
|
6890937 |
c.654T>A |
p.S218R |
Chr.2:
167869693-167869693
on Build GRCh38
|
5039629 |
c.736G>A |
p.D246N |
Chr.2:
167869775-167869775
on Build GRCh38
|
3938606 |
c.603G>T |
p.R201S |
Chr.2:
167869642-167869642
on Build GRCh38
|
7101433 |
c.925G>A |
p.E309K |
Chr.2:
167869964-167869964
on Build GRCh38
|
716856 |
c.649C>T |
p.R217C |
Chr.2:
167869688-167869688
on Build GRCh38
|
3961507 |
c.771C>T |
p.H257H |
Chr.2:
167869810-167869810
on Build GRCh38
|
5427655 |
c.861C>T |
p.H287H |
Chr.2:
167869900-167869900
on Build GRCh38
|
5527219 |
c.643G>A |
p.D215N |
Chr.2:
167869682-167869682
on Build GRCh38
|
7219230 |
c.895C>G |
p.R299G |
Chr.2:
167869934-167869934
on Build GRCh38
|
4086517 |
c.802G>T |
p.V268L |
Chr.2:
167869841-167869841
on Build GRCh38
|
3314442 |
c.864G>A |
p.W288* |
Chr.2:
167869903-167869903
on Build GRCh38
|
571147 |
c.640C>A |
p.R214R |
Chr.2:
167869679-167869679
on Build GRCh38
|
335162 |
c.732A>T |
p.S244S |
Chr.2:
167869771-167869771
on Build GRCh38
|
3391081 |
c.850G>A |
p.G284S |
Chr.2:
167869889-167869889
on Build GRCh38
|
1009033 |
c.641G>A |
p.R214Q |
Chr.2:
167869680-167869680
on Build GRCh38
|
5887662 |
c.713G>A |
p.G238E |
Chr.2:
167869752-167869752
on Build GRCh38
|
1009035 |
c.716C>T |
p.T239I |
Chr.2:
167869755-167869755
on Build GRCh38
|
4518850 |
c.835_836CC>TT |
p.P279F |
Chr.2:
167869874-167869875
on Build GRCh38
|
5889651 |
c.734C>T |
p.A245V |
Chr.2:
167869773-167869773
on Build GRCh38
|
4554813 |
c.631G>A |
p.G211R |
Chr.2:
167869670-167869670
on Build GRCh38
|
1009037 |
c.871G>A |
p.A291T |
Chr.2:
167869910-167869910
on Build GRCh38
|
3569563 |
c.671G>A |
p.R224K |
Chr.2:
167869710-167869710
on Build GRCh38
|
6088467 |
c.766C>A |
p.L256I |
Chr.2:
167869805-167869805
on Build GRCh38
|
4572629 |
c.813T>A |
p.C271* |
Chr.2:
167869852-167869852
on Build GRCh38
|
6273428 |
c.812G>T |
p.C271F |
Chr.2:
167869851-167869851
on Build GRCh38
|
3569565 |
c.928G>A |
p.E310K |
Chr.2:
167869967-167869967
on Build GRCh38
|
6488018 |
c.707G>C |
p.C236S |
Chr.2:
167869746-167869746
on Build GRCh38
|
3714033 |
c.647T>C |
p.V216A |
Chr.2:
167869686-167869686
on Build GRCh38
|
6582798 |
c.899T>A |
p.V300D |
Chr.2:
167869938-167869938
on Build GRCh38
|
1669379 |
c.755A>G |
p.Y252C |
Chr.2:
167869794-167869794
on Build GRCh38
|
4964846 |
c.828C>G |
p.G276G |
Chr.2:
167869867-167869867
on Build GRCh38
|
5115895 |
c.678G>T |
p.L226F |
Chr.2:
167869717-167869717
on Build GRCh38
|
229455 |
c.835C>T |
p.P279S |
Chr.2:
167869874-167869874
on Build GRCh38
|
5142567 |
c.910C>T |
p.H304Y |
Chr.2:
167869949-167869949
on Build GRCh38
|
309406 |
c.981G>A |
p.*327* |
Chr.2:
167870020-167870020
on Build GRCh38
|
3895275 |
c.892C>T |
p.R298C |
Chr.2:
167869931-167869931
on Build GRCh38
|
716855 |
c.672G>A |
p.R224R |
Chr.2:
167869711-167869711
on Build GRCh38
|
400584 |
c.710C>T |
p.S237L |
Chr.2:
167869749-167869749
on Build GRCh38
|
5748878 |
c.595C>T |
p.R199* |
Chr.2:
167869634-167869634
on Build GRCh38
|
3314444 |
c.865delA |
p.M290fs*>37 |
Chr.2:
167869904-167869904
on Build GRCh38
|
4086516 |
c.615C>T |
p.G205G |
Chr.2:
167869654-167869654
on Build GRCh38
|
7424755 |
c.862T>A |
p.W288R |
Chr.2:
167869901-167869901
on Build GRCh38
|
4399933 |
c.596G>A |
p.R199Q |
Chr.2:
167869635-167869635
on Build GRCh38
|
1009032 |
c.640C>T |
p.R214W |
Chr.2:
167869679-167869679
on Build GRCh38
|