3671638 |
c.818C>A |
p.P273Q |
Chr.1:
225988176-225988176
on Build GRCh38
|
3671637 |
c.854C>A |
p.P285Q |
Chr.1:
225988176-225988176
on Build GRCh38
|
5845639 |
c.1073C>T |
p.A358V |
Chr.1:
225987957-225987957
on Build GRCh38
|
5155175 |
c.905C>T |
p.T302I |
Chr.1:
225988089-225988089
on Build GRCh38
|
679369 |
c.826G>C |
p.D276H |
Chr.1:
225988168-225988168
on Build GRCh38
|
1198456 |
c.946G>T |
p.E316* |
Chr.1:
225988048-225988048
on Build GRCh38
|
6124891 |
c.952G>T |
p.E318* |
Chr.1:
225988078-225988078
on Build GRCh38
|
3977102 |
c.856G>T |
p.V286L |
Chr.1:
225988174-225988174
on Build GRCh38
|
3977103 |
c.820G>T |
p.V274L |
Chr.1:
225988174-225988174
on Build GRCh38
|
1146154 |
c.862G>C |
p.D288H |
Chr.1:
225988168-225988168
on Build GRCh38
|
5462198 |
c.858T>C |
p.C286C |
Chr.1:
225988136-225988136
on Build GRCh38
|
4028690 |
c.951A>T |
p.E317D |
Chr.1:
225988079-225988079
on Build GRCh38
|
4028691 |
c.915A>T |
p.E305D |
Chr.1:
225988079-225988079
on Build GRCh38
|
1198455 |
c.982G>T |
p.E328* |
Chr.1:
225988048-225988048
on Build GRCh38
|
1473455 |
c.1012G>C |
p.D338H |
Chr.1:
225987982-225987982
on Build GRCh38
|
6773708 |
c.1058G>T |
p.R353I |
Chr.1:
225987972-225987972
on Build GRCh38
|
7132852 |
c.871G>A |
p.E291K |
Chr.1:
225988123-225988123
on Build GRCh38
|
5845640 |
c.1037C>T |
p.A346V |
Chr.1:
225987957-225987957
on Build GRCh38
|
4028688 |
c.958C>G |
p.Q320E |
Chr.1:
225988072-225988072
on Build GRCh38
|
4028689 |
c.922C>G |
p.Q308E |
Chr.1:
225988072-225988072
on Build GRCh38
|
1473454 |
c.1048G>C |
p.D350H |
Chr.1:
225987982-225987982
on Build GRCh38
|
1748179 |
c.924G>A |
p.Q308Q |
Chr.1:
225988070-225988070
on Build GRCh38
|
7389018 |
c.791A>G |
p.H264R |
Chr.1:
225988203-225988203
on Build GRCh38
|
6124892 |
c.916G>T |
p.E306* |
Chr.1:
225988078-225988078
on Build GRCh38
|
1961611 |
c.778G>A |
p.V260M |
Chr.1:
225988216-225988216
on Build GRCh38
|
4775208 |
c.858G>C |
p.V286V |
Chr.1:
225988172-225988172
on Build GRCh38
|
25207 |
c.925G>T |
p.E309* |
Chr.1:
225988069-225988069
on Build GRCh38
|
255439 |
c.822G>C |
p.V274V |
Chr.1:
225988172-225988172
on Build GRCh38
|
6773709 |
c.1022G>T |
p.R341I |
Chr.1:
225987972-225987972
on Build GRCh38
|
3484242 |
c.965C>T |
p.P322L |
Chr.1:
225988029-225988029
on Build GRCh38
|
3484241 |
c.1001C>T |
p.P334L |
Chr.1:
225988029-225988029
on Build GRCh38
|
3484244 |
c.816C>T |
p.I272I |
Chr.1:
225988178-225988178
on Build GRCh38
|
1748178 |
c.960G>A |
p.Q320Q |
Chr.1:
225988070-225988070
on Build GRCh38
|
5033407 |
c.932G>A |
p.R311K |
Chr.1:
225988098-225988098
on Build GRCh38
|
7132853 |
c.907G>A |
p.E303K |
Chr.1:
225988123-225988123
on Build GRCh38
|
1961610 |
c.814G>A |
p.V272M |
Chr.1:
225988216-225988216
on Build GRCh38
|
7389019 |
c.827A>G |
p.H276R |
Chr.1:
225988203-225988203
on Build GRCh38
|
3484243 |
c.852C>T |
p.I284I |
Chr.1:
225988178-225988178
on Build GRCh38
|
5033408 |
c.896G>A |
p.R299K |
Chr.1:
225988098-225988098
on Build GRCh38
|
5462197 |
c.894T>C |
p.C298C |
Chr.1:
225988136-225988136
on Build GRCh38
|