1409720 |
c.1181T>G |
p.F394C |
Chr.2:
84547607-84547607
on Build GRCh38
|
4388720 |
c.1055G>A |
p.R352Q |
Chr.2:
84547392-84547392
on Build GRCh38
|
1023244 |
c.937C>T |
p.R313* |
Chr.2:
84547274-84547274
on Build GRCh38
|
4936532 |
c.1090C>T |
p.R364* |
Chr.2:
84547516-84547516
on Build GRCh38
|
7246359 |
c.1101A>G |
p.A367A |
Chr.2:
84547527-84547527
on Build GRCh38
|
4521725 |
c.1127G>A |
p.R376Q |
Chr.2:
84547553-84547553
on Build GRCh38
|
5530001 |
c.1039G>A |
p.A347T |
Chr.2:
84547376-84547376
on Build GRCh38
|
7252523 |
c.1153G>T |
p.V385F |
Chr.2:
84547579-84547579
on Build GRCh38
|
6885808 |
c.1186+1G>A |
p.? |
Chr.2:
84547613-84547613
on Build GRCh38
|
4164594 |
c.1042G>A |
p.A348T |
Chr.2:
84547379-84547379
on Build GRCh38
|
5771572 |
c.1179T>C |
p.P393P |
Chr.2:
84547605-84547605
on Build GRCh38
|
5193624 |
c.1066G>T |
p.V356L |
Chr.2:
84547492-84547492
on Build GRCh38
|
6841261 |
c.1075C>T |
p.R359C |
Chr.2:
84547501-84547501
on Build GRCh38
|
3001093 |
c.938G>T |
p.R313L |
Chr.2:
84547275-84547275
on Build GRCh38
|
5397490 |
c.1023C>T |
p.T341T |
Chr.2:
84547360-84547360
on Build GRCh38
|
5565776 |
c.1091G>A |
p.R364Q |
Chr.2:
84547517-84547517
on Build GRCh38
|
4315567 |
c.938G>T |
p.R313L |
Chr.2:
84547275-84547275
on Build GRCh38
|
4521726 |
c.1127G>A |
p.R376Q |
Chr.2:
84547553-84547553
on Build GRCh38
|
1204103 |
c.1024C>A |
p.L342M |
Chr.2:
84547361-84547361
on Build GRCh38
|
319947 |
c.1081G>T |
p.G361* |
Chr.2:
84547507-84547507
on Build GRCh38
|
5465626 |
c.1148G>A |
p.G383E |
Chr.2:
84547574-84547574
on Build GRCh38
|
3659982 |
c.1041C>T |
p.A347A |
Chr.2:
84547378-84547378
on Build GRCh38
|
5397491 |
c.1023C>T |
p.T341T |
Chr.2:
84547360-84547360
on Build GRCh38
|
5771571 |
c.1179T>C |
p.P393P |
Chr.2:
84547605-84547605
on Build GRCh38
|
4164593 |
c.1042G>A |
p.A348T |
Chr.2:
84547379-84547379
on Build GRCh38
|
4388721 |
c.1055G>A |
p.R352Q |
Chr.2:
84547392-84547392
on Build GRCh38
|
160508 |
c.1090C>G |
p.R364G |
Chr.2:
84547516-84547516
on Build GRCh38
|
5565777 |
c.1091G>A |
p.R364Q |
Chr.2:
84547517-84547517
on Build GRCh38
|
1409719 |
c.1142C>T |
p.A381V |
Chr.2:
84547568-84547568
on Build GRCh38
|
5097354 |
c.1142C>T |
p.A381V |
Chr.2:
84547568-84547568
on Build GRCh38
|
6841262 |
c.1075C>T |
p.R359C |
Chr.2:
84547501-84547501
on Build GRCh38
|
7246360 |
c.1101A>G |
p.A367A |
Chr.2:
84547527-84547527
on Build GRCh38
|
4521538 |
c.1116G>A |
p.R372R |
Chr.2:
84547542-84547542
on Build GRCh38
|
7252522 |
c.1153G>T |
p.V385F |
Chr.2:
84547579-84547579
on Build GRCh38
|
443275 |
c.1066G>T |
p.V356L |
Chr.2:
84547492-84547492
on Build GRCh38
|
4936533 |
c.1090C>T |
p.R364* |
Chr.2:
84547516-84547516
on Build GRCh38
|
5994035 |
c.1114A>G |
p.R372G |
Chr.2:
84547540-84547540
on Build GRCh38
|
5465627 |
c.1148G>A |
p.G383E |
Chr.2:
84547574-84547574
on Build GRCh38
|
5771793 |
c.1155T>A |
p.V385V |
Chr.2:
84547581-84547581
on Build GRCh38
|
5994036 |
c.1114A>G |
p.R372G |
Chr.2:
84547540-84547540
on Build GRCh38
|
4816638 |
c.1096G>A |
p.E366K |
Chr.2:
84547522-84547522
on Build GRCh38
|
3659983 |
c.1041C>T |
p.A347A |
Chr.2:
84547378-84547378
on Build GRCh38
|
3001095 |
c.1030G>A |
p.E344K |
Chr.2:
84547367-84547367
on Build GRCh38
|
5397492 |
c.1030_1031GA>AT |
p.E344I |
Chr.2:
84547367-84547368
on Build GRCh38
|
4521539 |
c.1116G>A |
p.R372R |
Chr.2:
84547542-84547542
on Build GRCh38
|
4315569 |
c.1030G>A |
p.E344K |
Chr.2:
84547367-84547367
on Build GRCh38
|
5397493 |
c.1030_1031GA>AT |
p.E344I |
Chr.2:
84547367-84547368
on Build GRCh38
|
5829531 |
c.1181T>G |
p.F394C |
Chr.2:
84547607-84547607
on Build GRCh38
|
6885807 |
c.1185+2G>A |
p.? |
Chr.2:
84547613-84547613
on Build GRCh38
|
5530002 |
c.1039G>A |
p.A347T |
Chr.2:
84547376-84547376
on Build GRCh38
|
5771792 |
c.1155T>A |
p.V385V |
Chr.2:
84547581-84547581
on Build GRCh38
|
4816637 |
c.1096G>A |
p.E366K |
Chr.2:
84547522-84547522
on Build GRCh38
|