| 6279945 |
c.1819A>C |
p.I607L |
Chr.2:
47819057-47819057
on Build GRCh38
|
| 1161360 |
c.1706T>C |
p.L569P |
Chr.2:
47818827-47818827
on Build GRCh38
|
| 6279946 |
c.1567A>C |
p.I523L |
Chr.2:
47819057-47819057
on Build GRCh38
|
| 4094447 |
c.1877G>A |
p.S626N |
Chr.2:
47818999-47818999
on Build GRCh38
|
| 6277661 |
c.1812A>T |
p.Q604H |
Chr.2:
47819064-47819064
on Build GRCh38
|
| 6277662 |
c.1560A>T |
p.Q520H |
Chr.2:
47819064-47819064
on Build GRCh38
|
| 292692 |
c.1595C>G |
p.T532S |
Chr.2:
47819029-47819029
on Build GRCh38
|
| 7147726 |
c.1614G>A |
p.V538V |
Chr.2:
47819010-47819010
on Build GRCh38
|
| 3682658 |
c.1679A>G |
p.Y560C |
Chr.2:
47818854-47818854
on Build GRCh38
|
| 3426489 |
c.1877G>T |
p.S626I |
Chr.2:
47818999-47818999
on Build GRCh38
|
| 211448 |
c.1611G>T |
p.W537C |
Chr.2:
47819013-47819013
on Build GRCh38
|
| 6433749 |
c.1673G>T |
p.G558V |
Chr.2:
47818860-47818860
on Build GRCh38
|
| 4683917 |
c.1748A>C |
p.Q583P |
Chr.2:
47818785-47818785
on Build GRCh38
|
| 3709672 |
c.1983T>C |
p.H661H |
Chr.2:
47818802-47818802
on Build GRCh38
|
| 3682657 |
c.1931A>G |
p.Y644C |
Chr.2:
47818854-47818854
on Build GRCh38
|
| 4410140 |
c.1954G>C |
p.V652L |
Chr.2:
47818831-47818831
on Build GRCh38
|
| 3782207 |
c.1669-10T>A |
p.? |
Chr.2:
47818874-47818874
on Build GRCh38
|
| 1408324 |
c.1748A>G |
p.Q583R |
Chr.2:
47818785-47818785
on Build GRCh38
|
| 1408325 |
c.1995G>T |
p.G665G |
Chr.2:
47818790-47818790
on Build GRCh38
|
| 4410141 |
c.1702G>C |
p.V568L |
Chr.2:
47818831-47818831
on Build GRCh38
|
| 3186088 |
c.1615A>T |
p.T539S |
Chr.2:
47819009-47819009
on Build GRCh38
|
| 5413632 |
c.1921-10delT |
p.? |
Chr.2:
47818874-47818874
on Build GRCh38
|
| 3839614 |
c.1822G>T |
p.E608* |
Chr.2:
47819054-47819054
on Build GRCh38
|
| 3186087 |
c.1867A>T |
p.T623S |
Chr.2:
47819009-47819009
on Build GRCh38
|
| 6210770 |
c.1735T>G |
p.Y579D |
Chr.2:
47818798-47818798
on Build GRCh38
|
| 5044012 |
c.1726A>C |
p.N576H |
Chr.2:
47818807-47818807
on Build GRCh38
|
| 5624431 |
c.1900C>G |
p.R634G |
Chr.2:
47818976-47818976
on Build GRCh38
|
| 4094448 |
c.1625G>A |
p.S542N |
Chr.2:
47818999-47818999
on Build GRCh38
|
| 4683916 |
c.2000A>C |
p.Q667P |
Chr.2:
47818785-47818785
on Build GRCh38
|
| 6662049 |
c.1605A>G |
p.G535G |
Chr.2:
47819019-47819019
on Build GRCh38
|
| 4777472 |
c.1958T>C |
p.L653P |
Chr.2:
47818827-47818827
on Build GRCh38
|
| 3426490 |
c.1625G>T |
p.S542I |
Chr.2:
47818999-47818999
on Build GRCh38
|
| 5624432 |
c.1648C>G |
p.R550G |
Chr.2:
47818976-47818976
on Build GRCh38
|
| 4094450 |
c.1553A>G |
p.K518R |
Chr.2:
47819071-47819071
on Build GRCh38
|
| 1592209 |
c.1934T>G |
p.F645C |
Chr.2:
47818851-47818851
on Build GRCh38
|
| 6662048 |
c.1857A>G |
p.G619G |
Chr.2:
47819019-47819019
on Build GRCh38
|
| 4094449 |
c.1805A>G |
p.K602R |
Chr.2:
47819071-47819071
on Build GRCh38
|
| 1161359 |
c.1744G>T |
p.V582F |
Chr.2:
47818789-47818789
on Build GRCh38
|
| 6278303 |
c.1818A>G |
p.V606V |
Chr.2:
47819058-47819058
on Build GRCh38
|
| 6278304 |
c.1566A>G |
p.V522V |
Chr.2:
47819058-47819058
on Build GRCh38
|
| 4094445 |
c.1927G>A |
p.V643I |
Chr.2:
47818858-47818858
on Build GRCh38
|
| 3682660 |
c.1675G>T |
p.V559F |
Chr.2:
47818858-47818858
on Build GRCh38
|
| 1252252 |
c.2000A>T |
p.Q667L |
Chr.2:
47818785-47818785
on Build GRCh38
|
| 7147725 |
c.1866G>A |
p.V622V |
Chr.2:
47819010-47819010
on Build GRCh38
|
| 3709673 |
c.1731T>C |
p.H577H |
Chr.2:
47818802-47818802
on Build GRCh38
|
| 3682659 |
c.1927G>T |
p.V643F |
Chr.2:
47818858-47818858
on Build GRCh38
|
| 1252253 |
c.1748A>T |
p.Q583L |
Chr.2:
47818785-47818785
on Build GRCh38
|
| 4879550 |
c.1996G>T |
p.V666F |
Chr.2:
47818789-47818789
on Build GRCh38
|
| 6433748 |
c.1925G>T |
p.G642V |
Chr.2:
47818860-47818860
on Build GRCh38
|
| 3839615 |
c.1570G>T |
p.E524* |
Chr.2:
47819054-47819054
on Build GRCh38
|
| 5044011 |
c.1978A>C |
p.N660H |
Chr.2:
47818807-47818807
on Build GRCh38
|
| 1408326 |
c.1743G>T |
p.G581G |
Chr.2:
47818790-47818790
on Build GRCh38
|
| 1408323 |
c.2000A>G |
p.Q667R |
Chr.2:
47818785-47818785
on Build GRCh38
|
| 1021324 |
c.1682T>G |
p.F561C |
Chr.2:
47818851-47818851
on Build GRCh38
|
| 3782206 |
c.1921-10T>A |
p.? |
Chr.2:
47818874-47818874
on Build GRCh38
|
| 6210769 |
c.1987T>G |
p.Y663D |
Chr.2:
47818798-47818798
on Build GRCh38
|
| 4094446 |
c.1675G>A |
p.V559I |
Chr.2:
47818858-47818858
on Build GRCh38
|
| 5413633 |
c.1669-10delT |
p.? |
Chr.2:
47818874-47818874
on Build GRCh38
|