5024960 |
c.18G>C |
p.Q6H |
Chr.1:
226064369-226064369
on Build GRCh38
|
4971457 |
c.81C>T |
p.R27R |
Chr.1:
226064432-226064432
on Build GRCh38
|
1578107 |
c.84G>T |
p.K28N |
Chr.1:
226064435-226064435
on Build GRCh38
|
5574356 |
c.107_108insTCT |
p.V36_K37insL |
Chr.1:
226064458-226064459
on Build GRCh38
|
123523 |
c.7C>T |
p.R3C |
Chr.1:
226064358-226064358
on Build GRCh38
|
5491291 |
c.128+6delA |
p.? |
Chr.1:
226064485-226064485
on Build GRCh38
|
1155735 |
c.128+30_128+31delAA |
p.? |
Chr.1:
226064509-226064510
on Build GRCh38
|
502595 |
c.104G>T |
p.G35V |
Chr.1:
226064455-226064455
on Build GRCh38
|
1961655 |
c.110A>T |
p.K37M |
Chr.1:
226064461-226064461
on Build GRCh38
|
5796102 |
c.81C>G |
p.R27R |
Chr.1:
226064432-226064432
on Build GRCh38
|
1961654 |
c.83A>G |
p.K28R |
Chr.1:
226064434-226064434
on Build GRCh38
|
904698 |
c.111G>T |
p.K37N |
Chr.1:
226064462-226064462
on Build GRCh38
|
1961651 |
c.25C>T |
p.R9C |
Chr.1:
226064376-226064376
on Build GRCh38
|
5779448 |
c.76G>T |
p.A26S |
Chr.1:
226064427-226064427
on Build GRCh38
|
1732355 |
c.103G>T |
p.G35W |
Chr.1:
226064454-226064454
on Build GRCh38
|
7350758 |
c.17A>C |
p.Q6P |
Chr.1:
226064368-226064368
on Build GRCh38
|
302347 |
c.26G>A |
p.R9H |
Chr.1:
226064377-226064377
on Build GRCh38
|
6205916 |
c.34A>G |
p.T12A |
Chr.1:
226064385-226064385
on Build GRCh38
|
261222 |
c.128+7A>C |
p.? |
Chr.1:
226064486-226064486
on Build GRCh38
|
6201826 |
c.103G>C |
p.G35R |
Chr.1:
226064454-226064454
on Build GRCh38
|
5945991 |
c.103_104GG>TT |
p.G35L |
Chr.1:
226064454-226064455
on Build GRCh38
|
6588635 |
c.107delT |
p.V36fs*27 |
Chr.1:
226064458-226064458
on Build GRCh38
|
327929 |
c.103G>A |
p.G35R |
Chr.1:
226064454-226064454
on Build GRCh38
|
327928 |
c.83A>T |
p.K28M |
Chr.1:
226064434-226064434
on Build GRCh38
|
6424918 |
c.86G>C |
p.S29T |
Chr.1:
226064437-226064437
on Build GRCh38
|
6206169 |
c.37G>A |
p.G13S |
Chr.1:
226064388-226064388
on Build GRCh38
|
325471 |
c.60A>C |
p.Q20H |
Chr.1:
226064411-226064411
on Build GRCh38
|
6848604 |
c.98C>T |
p.T33I |
Chr.1:
226064449-226064449
on Build GRCh38
|
3804100 |
c.25C>G |
p.R9G |
Chr.1:
226064376-226064376
on Build GRCh38
|
6842283 |
c.67A>C |
p.T23P |
Chr.1:
226064418-226064418
on Build GRCh38
|
3677573 |
c.82A>G |
p.K28E |
Chr.1:
226064433-226064433
on Build GRCh38
|
414605 |
c.110A>G |
p.K37R |
Chr.1:
226064461-226064461
on Build GRCh38
|
6956601 |
c.118C>A |
p.H40N |
Chr.1:
226064469-226064469
on Build GRCh38
|
4820121 |
c.14A>T |
p.K5M |
Chr.1:
226064365-226064365
on Build GRCh38
|