4986805 |
c.1552G>A |
p.V518I |
Chr.2:
80545973-80545973
on Build GRCh38
|
4315463 |
c.1497C>A |
p.A499A |
Chr.2:
80545918-80545918
on Build GRCh38
|
3939191 |
c.1507C>A |
p.L503M |
Chr.2:
80545928-80545928
on Build GRCh38
|
6092531 |
c.1524G>T |
p.Q508H |
Chr.2:
80545945-80545945
on Build GRCh38
|
6396406 |
c.1455C>A |
p.F485L |
Chr.2:
80545978-80545978
on Build GRCh38
|
5438719 |
c.1496C>T |
p.A499V |
Chr.2:
80545917-80545917
on Build GRCh38
|
6344770 |
c.1585G>T |
p.V529L |
Chr.2:
80546006-80546006
on Build GRCh38
|
4527048 |
c.1438G>A |
p.D480N |
Chr.2:
80545961-80545961
on Build GRCh38
|
5834493 |
c.1455delC |
p.F485fs*12 |
Chr.2:
80545978-80545978
on Build GRCh38
|
6493538 |
c.1552G>T |
p.V518F |
Chr.2:
80545973-80545973
on Build GRCh38
|
6324433 |
c.1526G>A |
p.S509N |
Chr.2:
80545947-80545947
on Build GRCh38
|
6092528 |
c.1514C>A |
p.S505* |
Chr.2:
80546037-80546037
on Build GRCh38
|
6561059 |
c.1634C>T |
p.S545F |
Chr.2:
80546055-80546055
on Build GRCh38
|
7226541 |
c.1503G>C |
p.L501L |
Chr.2:
80545924-80545924
on Build GRCh38
|
3659978 |
c.1480C>A |
p.R494R |
Chr.2:
80546003-80546003
on Build GRCh38
|
3583610 |
c.1520C>T |
p.P507L |
Chr.2:
80545941-80545941
on Build GRCh38
|
5708340 |
c.1639T>C |
p.S547P |
Chr.2:
80546060-80546060
on Build GRCh38
|
4843509 |
c.1415G>A |
p.R472Q |
Chr.2:
80545938-80545938
on Build GRCh38
|
6396407 |
c.1557C>A |
p.F519L |
Chr.2:
80545978-80545978
on Build GRCh38
|
4986804 |
c.1450G>A |
p.V484I |
Chr.2:
80545973-80545973
on Build GRCh38
|
370819 |
c.1492G>T |
p.E498* |
Chr.2:
80546015-80546015
on Build GRCh38
|
6159068 |
c.1634C>G |
p.S545C |
Chr.2:
80546055-80546055
on Build GRCh38
|
1483303 |
c.1510A>C |
p.T504P |
Chr.2:
80546033-80546033
on Build GRCh38
|
6377414 |
c.1637T>C |
p.V546A |
Chr.2:
80546058-80546058
on Build GRCh38
|
369576 |
c.1495G>T |
p.A499S |
Chr.2:
80546018-80546018
on Build GRCh38
|
6561058 |
c.1532C>T |
p.S511F |
Chr.2:
80546055-80546055
on Build GRCh38
|
1483299 |
c.1451T>C |
p.V484A |
Chr.2:
80545974-80545974
on Build GRCh38
|
6010194 |
c.1518G>A |
p.R506R |
Chr.2:
80545939-80545939
on Build GRCh38
|
3659979 |
c.1582C>A |
p.R528R |
Chr.2:
80546003-80546003
on Build GRCh38
|
4095970 |
c.1599C>T |
p.A533A |
Chr.2:
80546020-80546020
on Build GRCh38
|
3939190 |
c.1405C>A |
p.L469M |
Chr.2:
80545928-80545928
on Build GRCh38
|
6159067 |
c.1532C>G |
p.S511C |
Chr.2:
80546055-80546055
on Build GRCh38
|
5834495 |
c.1612A>C |
p.T538P |
Chr.2:
80546033-80546033
on Build GRCh38
|
7125057 |
c.1488C>T |
p.V496V |
Chr.2:
80545909-80545909
on Build GRCh38
|
6377413 |
c.1535T>C |
p.V512A |
Chr.2:
80546058-80546058
on Build GRCh38
|
3000962 |
c.1497C>T |
p.A499A |
Chr.2:
80546020-80546020
on Build GRCh38
|
4527049 |
c.1540G>A |
p.D514N |
Chr.2:
80545961-80545961
on Build GRCh38
|
6509544 |
c.1516C>A |
p.R506R |
Chr.2:
80545937-80545937
on Build GRCh38
|
5644840 |
c.1411G>T |
p.A471S |
Chr.2:
80545934-80545934
on Build GRCh38
|
3583609 |
c.1418C>T |
p.P473L |
Chr.2:
80545941-80545941
on Build GRCh38
|
1307029 |
c.1514C>T |
p.S505L |
Chr.2:
80546037-80546037
on Build GRCh38
|
5438717 |
c.1394C>T |
p.A465V |
Chr.2:
80545917-80545917
on Build GRCh38
|
4315465 |
c.1566G>A |
p.Q522Q |
Chr.2:
80545987-80545987
on Build GRCh38
|
6481104 |
c.1413C>A |
p.A471A |
Chr.2:
80545936-80545936
on Build GRCh38
|
6092529 |
c.1616C>A |
p.S539* |
Chr.2:
80546037-80546037
on Build GRCh38
|
5644841 |
c.1513G>T |
p.A505S |
Chr.2:
80545934-80545934
on Build GRCh38
|
6395009 |
c.1449C>A |
p.D483E |
Chr.2:
80545972-80545972
on Build GRCh38
|
6010193 |
c.1416G>A |
p.R472R |
Chr.2:
80545939-80545939
on Build GRCh38
|
5224137 |
c.1553T>C |
p.V518A |
Chr.2:
80545974-80545974
on Build GRCh38
|
6509542 |
c.1414C>A |
p.R472R |
Chr.2:
80545937-80545937
on Build GRCh38
|
5708339 |
c.1537T>C |
p.S513P |
Chr.2:
80546060-80546060
on Build GRCh38
|
6092530 |
c.1422G>T |
p.Q474H |
Chr.2:
80545945-80545945
on Build GRCh38
|
3583613 |
c.1531G>A |
p.V511I |
Chr.2:
80545952-80545952
on Build GRCh38
|
6395011 |
c.1551C>A |
p.D517E |
Chr.2:
80545972-80545972
on Build GRCh38
|
6324432 |
c.1424G>A |
p.S475N |
Chr.2:
80545947-80545947
on Build GRCh38
|
6378505 |
c.1520C>A |
p.P507Q |
Chr.2:
80545941-80545941
on Build GRCh38
|
722236 |
c.1418C>G |
p.P473R |
Chr.2:
80545941-80545941
on Build GRCh38
|
7093619 |
c.1499C>T |
p.A500V |
Chr.2:
80545920-80545920
on Build GRCh38
|
1532711 |
c.1395C>A |
p.A465A |
Chr.2:
80545918-80545918
on Build GRCh38
|
7226540 |
c.1401G>C |
p.L467L |
Chr.2:
80545924-80545924
on Build GRCh38
|
1483301 |
c.1498G>C |
p.V500L |
Chr.2:
80546021-80546021
on Build GRCh38
|
6378504 |
c.1418C>A |
p.P473Q |
Chr.2:
80545941-80545941
on Build GRCh38
|
5210425 |
c.1600G>C |
p.V534L |
Chr.2:
80546021-80546021
on Build GRCh38
|
7125056 |
c.1386C>T |
p.V462V |
Chr.2:
80545909-80545909
on Build GRCh38
|
4095969 |
c.1494T>A |
p.N498K |
Chr.2:
80545915-80545915
on Build GRCh38
|
6481105 |
c.1515C>A |
p.A505A |
Chr.2:
80545936-80545936
on Build GRCh38
|
4095968 |
c.1392T>A |
p.N464K |
Chr.2:
80545915-80545915
on Build GRCh38
|
7122588 |
c.1616C>T |
p.S539L |
Chr.2:
80546037-80546037
on Build GRCh38
|
5834494 |
c.1557delC |
p.F519fs*12 |
Chr.2:
80545978-80545978
on Build GRCh38
|
4843510 |
c.1517G>A |
p.R506Q |
Chr.2:
80545938-80545938
on Build GRCh38
|
6344769 |
c.1483G>T |
p.V495L |
Chr.2:
80546006-80546006
on Build GRCh38
|
7093618 |
c.1397C>T |
p.A466V |
Chr.2:
80545920-80545920
on Build GRCh38
|
3583611 |
c.1429G>A |
p.V477I |
Chr.2:
80545952-80545952
on Build GRCh38
|
6493537 |
c.1450G>T |
p.V484F |
Chr.2:
80545973-80545973
on Build GRCh38
|
3000959 |
c.1464G>A |
p.Q488Q |
Chr.2:
80545987-80545987
on Build GRCh38
|