5684388 |
c.1525delG |
p.E509fs*7 |
Chr.1:
74589691-74589691
on Build GRCh38
|
7251501 |
c.1569T>A |
p.P523P |
Chr.1:
74589647-74589647
on Build GRCh38
|
4477495 |
c.2159C>T |
p.P720L |
Chr.1:
74589648-74589648
on Build GRCh38
|
4892195 |
c.1465G>A |
p.E489K |
Chr.1:
74589751-74589751
on Build GRCh38
|
5684387 |
c.2116delG |
p.E706fs*7 |
Chr.1:
74589691-74589691
on Build GRCh38
|
6615144 |
c.1578G>A |
p.E526E |
Chr.1:
74589638-74589638
on Build GRCh38
|
3805879 |
c.2175T>G |
p.G725G |
Chr.1:
74589632-74589632
on Build GRCh38
|
136141 |
c.2083G>A |
p.E695K |
Chr.1:
74589724-74589724
on Build GRCh38
|
127476 |
c.2067G>A |
p.G689G |
Chr.1:
74589740-74589740
on Build GRCh38
|
5847287 |
c.2119G>A |
p.E707K |
Chr.1:
74589688-74589688
on Build GRCh38
|
5759018 |
c.1458T>C |
p.G486G |
Chr.1:
74589758-74589758
on Build GRCh38
|
4896831 |
c.1501G>A |
p.E501K |
Chr.1:
74589715-74589715
on Build GRCh38
|
4782026 |
c.1571G>T |
p.G524V |
Chr.1:
74589645-74589645
on Build GRCh38
|
7358269 |
c.1535C>T |
p.T512I |
Chr.1:
74589681-74589681
on Build GRCh38
|
5821553 |
c.1449T>A |
p.I483I |
Chr.1:
74589767-74589767
on Build GRCh38
|
3977877 |
c.2160T>A |
p.P720P |
Chr.1:
74589647-74589647
on Build GRCh38
|
6615173 |
c.2102A>T |
p.K701M |
Chr.1:
74589705-74589705
on Build GRCh38
|
5847288 |
c.1528G>A |
p.E510K |
Chr.1:
74589688-74589688
on Build GRCh38
|
6064390 |
c.1472C>A |
p.S491Y |
Chr.1:
74589744-74589744
on Build GRCh38
|
1126944 |
c.2136G>T |
p.V712V |
Chr.1:
74589671-74589671
on Build GRCh38
|
4535031 |
c.2148G>A |
p.K716K |
Chr.1:
74589659-74589659
on Build GRCh38
|
912096 |
c.2123G>T |
p.S708I |
Chr.1:
74589684-74589684
on Build GRCh38
|
4946328 |
c.1446G>T |
p.E482D |
Chr.1:
74589770-74589770
on Build GRCh38
|
2241618 |
c.2091G>A |
p.K697K |
Chr.1:
74589716-74589716
on Build GRCh38
|
4851705 |
c.1465G>C |
p.E489Q |
Chr.1:
74589751-74589751
on Build GRCh38
|
6488698 |
c.2044G>T |
p.E682* |
Chr.1:
74589763-74589763
on Build GRCh38
|
4631643 |
c.1545G>T |
p.V515V |
Chr.1:
74589671-74589671
on Build GRCh38
|
2241621 |
c.2064C>T |
p.S688S |
Chr.1:
74589743-74589743
on Build GRCh38
|
1724884 |
c.2113T>C |
p.W705R |
Chr.1:
74589694-74589694
on Build GRCh38
|
6615143 |
c.2169G>A |
p.E723E |
Chr.1:
74589638-74589638
on Build GRCh38
|
4851704 |
c.2056G>C |
p.E686Q |
Chr.1:
74589751-74589751
on Build GRCh38
|
6615146 |
c.2176+10G>A |
p.? |
Chr.1:
74589621-74589621
on Build GRCh38
|
5759017 |
c.2049T>C |
p.G683G |
Chr.1:
74589758-74589758
on Build GRCh38
|
3492283 |
c.2069A>C |
p.K690T |
Chr.1:
74589738-74589738
on Build GRCh38
|
7218427 |
c.1481A>G |
p.H494R |
Chr.1:
74589735-74589735
on Build GRCh38
|
6009327 |
c.1512G>A |
p.K504K |
Chr.1:
74589704-74589704
on Build GRCh38
|
6488699 |
c.1453G>T |
p.E485* |
Chr.1:
74589763-74589763
on Build GRCh38
|
7358268 |
c.2126C>T |
p.T709I |
Chr.1:
74589681-74589681
on Build GRCh38
|
4906148 |
c.1478A>C |
p.K493T |
Chr.1:
74589738-74589738
on Build GRCh38
|
5821552 |
c.2040T>A |
p.I680I |
Chr.1:
74589767-74589767
on Build GRCh38
|
7322057 |
c.1467G>A |
p.E489E |
Chr.1:
74589749-74589749
on Build GRCh38
|
6615142 |
c.1498A>G |
p.K500E |
Chr.1:
74589718-74589718
on Build GRCh38
|
5544568 |
c.1500G>A |
p.K500K |
Chr.1:
74589716-74589716
on Build GRCh38
|
6615147 |
c.1595G>A |
p.G532D |
Chr.1:
74589621-74589621
on Build GRCh38
|
5550428 |
c.1558G>T |
p.A520S |
Chr.1:
74589658-74589658
on Build GRCh38
|
397647 |
c.2063C>A |
p.S688Y |
Chr.1:
74589744-74589744
on Build GRCh38
|
4894727 |
c.1476G>A |
p.G492G |
Chr.1:
74589740-74589740
on Build GRCh38
|
5959756 |
c.2073T>C |
p.H691H |
Chr.1:
74589734-74589734
on Build GRCh38
|
3400996 |
c.2162G>T |
p.G721V |
Chr.1:
74589645-74589645
on Build GRCh38
|
6009326 |
c.2103G>A |
p.K701K |
Chr.1:
74589704-74589704
on Build GRCh38
|
4907891 |
c.1499A>C |
p.K500T |
Chr.1:
74589717-74589717
on Build GRCh38
|
3419457 |
c.2037G>T |
p.E679D |
Chr.1:
74589770-74589770
on Build GRCh38
|
6615174 |
c.1511A>T |
p.K504M |
Chr.1:
74589705-74589705
on Build GRCh38
|
4909099 |
c.1473C>T |
p.S491S |
Chr.1:
74589743-74589743
on Build GRCh38
|
4897393 |
c.1525G>A |
p.E509K |
Chr.1:
74589691-74589691
on Build GRCh38
|
5602969 |
c.1579G>A |
p.E527K |
Chr.1:
74589637-74589637
on Build GRCh38
|
3997662 |
c.2072A>G |
p.H691R |
Chr.1:
74589735-74589735
on Build GRCh38
|
4405179 |
c.2092G>A |
p.E698K |
Chr.1:
74589715-74589715
on Build GRCh38
|
7322056 |
c.2058G>A |
p.E686E |
Chr.1:
74589749-74589749
on Build GRCh38
|
4535249 |
c.2170G>A |
p.E724K |
Chr.1:
74589637-74589637
on Build GRCh38
|
5655391 |
c.1474G>A |
p.G492R |
Chr.1:
74589742-74589742
on Build GRCh38
|
4866008 |
c.1532G>T |
p.S511I |
Chr.1:
74589684-74589684
on Build GRCh38
|
3866075 |
c.2056G>A |
p.E686K |
Chr.1:
74589751-74589751
on Build GRCh38
|
2241620 |
c.2065G>A |
p.G689R |
Chr.1:
74589742-74589742
on Build GRCh38
|
4431476 |
c.2149G>T |
p.A717S |
Chr.1:
74589658-74589658
on Build GRCh38
|
6615141 |
c.2089A>G |
p.K697E |
Chr.1:
74589718-74589718
on Build GRCh38
|
4815394 |
c.1584T>G |
p.G528G |
Chr.1:
74589632-74589632
on Build GRCh38
|
3492282 |
c.2116G>A |
p.E706K |
Chr.1:
74589691-74589691
on Build GRCh38
|
4009861 |
c.2090A>C |
p.K697T |
Chr.1:
74589717-74589717
on Build GRCh38
|
5959757 |
c.1482T>C |
p.H494H |
Chr.1:
74589734-74589734
on Build GRCh38
|