6249109 |
c.915G>T |
p.R305S |
Chr.1:
65385826-65385826
on Build GRCh38
|
3725497 |
c.748G>A |
p.G250R |
Chr.1:
65385830-65385830
on Build GRCh38
|
6245480 |
c.920G>T |
p.G307V |
Chr.1:
65385831-65385831
on Build GRCh38
|
5053646 |
c.689C>A |
p.P230H |
Chr.1:
65385771-65385771
on Build GRCh38
|
5018745 |
c.727delT |
p.F244fs*31 |
Chr.1:
65385809-65385809
on Build GRCh38
|
5153909 |
c.867A>G |
p.T289T |
Chr.1:
65385778-65385778
on Build GRCh38
|
6249108 |
c.744G>T |
p.R248S |
Chr.1:
65385826-65385826
on Build GRCh38
|
5847186 |
c.839C>T |
p.P280L |
Chr.1:
65385750-65385750
on Build GRCh38
|
1343932 |
c.754C>T |
p.R252C |
Chr.1:
65385836-65385836
on Build GRCh38
|
4513065 |
c.925C>T |
p.R309C |
Chr.1:
65385836-65385836
on Build GRCh38
|
4512215 |
c.895C>T |
p.P299S |
Chr.1:
65385806-65385806
on Build GRCh38
|
6245479 |
c.749G>T |
p.G250V |
Chr.1:
65385831-65385831
on Build GRCh38
|
4009414 |
c.926G>A |
p.R309H |
Chr.1:
65385837-65385837
on Build GRCh38
|
1343931 |
c.696A>G |
p.T232T |
Chr.1:
65385778-65385778
on Build GRCh38
|
5847185 |
c.668C>T |
p.P223L |
Chr.1:
65385750-65385750
on Build GRCh38
|
5053647 |
c.860C>A |
p.P287H |
Chr.1:
65385771-65385771
on Build GRCh38
|
7365114 |
c.965A>G |
p.Y322C |
Chr.1:
65385876-65385876
on Build GRCh38
|
4512214 |
c.724C>T |
p.P242S |
Chr.1:
65385806-65385806
on Build GRCh38
|
681481 |
c.754C>A |
p.R252S |
Chr.1:
65385836-65385836
on Build GRCh38
|
7365115 |
c.794A>G |
p.Y265C |
Chr.1:
65385876-65385876
on Build GRCh38
|
2239214 |
c.705G>A |
p.S235S |
Chr.1:
65385787-65385787
on Build GRCh38
|
6063979 |
c.648_649TG>AT |
p.C216_D217>* |
Chr.1:
65385730-65385731
on Build GRCh38
|
6063977 |
c.752G>T |
p.C251F |
Chr.1:
65385834-65385834
on Build GRCh38
|
4804995 |
c.896C>T |
p.P299L |
Chr.1:
65385807-65385807
on Build GRCh38
|
3419394 |
c.818G>A |
p.R273Q |
Chr.1:
65385900-65385900
on Build GRCh38
|
4240639 |
c.876G>A |
p.S292S |
Chr.1:
65385787-65385787
on Build GRCh38
|
3730805 |
c.845G>A |
p.R282H |
Chr.1:
65385756-65385756
on Build GRCh38
|
911591 |
c.749G>A |
p.G250E |
Chr.1:
65385831-65385831
on Build GRCh38
|
5551009 |
c.819T>C |
p.C273C |
Chr.1:
65385730-65385730
on Build GRCh38
|
911590 |
c.674G>A |
p.R225H |
Chr.1:
65385756-65385756
on Build GRCh38
|
3725498 |
c.919G>A |
p.G307R |
Chr.1:
65385830-65385830
on Build GRCh38
|
5551008 |
c.648T>C |
p.C216C |
Chr.1:
65385730-65385730
on Build GRCh38
|
911589 |
c.652C>A |
p.L218I |
Chr.1:
65385734-65385734
on Build GRCh38
|
3419395 |
c.989G>A |
p.R330Q |
Chr.1:
65385900-65385900
on Build GRCh38
|
5018746 |
c.898delT |
p.F301fs*31 |
Chr.1:
65385809-65385809
on Build GRCh38
|
7138974 |
c.856A>G |
p.K286E |
Chr.1:
65385767-65385767
on Build GRCh38
|
6063980 |
c.819_820TG>AT |
p.C273_D274>* |
Chr.1:
65385730-65385731
on Build GRCh38
|
4804994 |
c.725C>T |
p.P242L |
Chr.1:
65385807-65385807
on Build GRCh38
|
6063978 |
c.923G>T |
p.C308F |
Chr.1:
65385834-65385834
on Build GRCh38
|
7138975 |
c.685A>G |
p.K229E |
Chr.1:
65385767-65385767
on Build GRCh38
|
4009413 |
c.755G>A |
p.R252H |
Chr.1:
65385837-65385837
on Build GRCh38
|