|
Tabelle 1: Mutationen die auf Galafold (Migalastat) ansprechen
|
|
Nukleotidveränderung
|
Nukleotidveränderung
|
Änderung der Proteinsequenz
|
|
c.7C>G
|
c.C7G
|
L3V
|
|
c.8T>C
|
c.T8C
|
L3P
|
|
c.[11G>T; 620A>C]
|
c.G11T/A620C
|
R4M/Y207S
|
|
c.13A>G
|
c.A13G
|
N5D
|
|
c.15C>G
|
c.C15G
|
N5K
|
|
c.16C>A
|
c.C16A
|
P6T
|
|
c.16C>T
|
c.C16T
|
P6S
|
|
c.17C>A
|
c.C17A
|
P6Q
|
|
c.17C>G
|
c.C17G
|
P6R
|
|
c.17C>T
|
c.C17T
|
P6L
|
|
c.19G>A
|
c.G19A
|
E7K
|
|
c.20A>T
|
c.A20T
|
E7V
|
|
c.21A>T
|
c.A21T
|
E7D
|
|
c.22C>A
|
c.C22A
|
L8I
|
|
c.23T>A
|
c.T23A
|
L8Q
|
|
c.23T>C
|
c.T23C
|
L8P
|
|
c.25C>T
|
c.C25T
|
H9Y
|
|
c.26A>G
|
c.A26G
|
H9R
|
|
c.26A>T
|
c.A26T
|
H9L
|
|
c.27T>A
|
c.T27A
|
H9Q
|
|
c.28C>A
|
c.C28A
|
L10M
|
|
c.28C>G
|
c.C28G
|
L10V
|
|
c.29T>A
|
c.T29A
|
L10Q
|
|
c.29T>C
|
c.T29C
|
L10P
|
|
c.29T>G
|
c.T29G
|
L10R
|
|
c.31G>A
|
c.G31A
|
G11S
|
|
c.31G>C
|
c.G31C
|
G11R
|
|
c.31G>T
|
c.G31T
|
G11C
|
|
c.32G>A
|
c.G32A
|
G11D
|
|
c.32G>T
|
c.G32T
|
G11V
|
|
c.34T>A
|
c.T34A
|
C12S
|
|
c.34T>C
|
c.T34C
|
C12R
|
|
c.34T>G
|
c.T34G
|
C12G
|
|
c.35G>A
|
c.G35A
|
C12Y
|
|
c.37G>A
|
c.G37A
|
A13T
|
|
c.37G>C
|
c.G37C
|
A13P
|
|
c.38C>A
|
c.C38A
|
A13E
|
|
c.38C>G
|
c.C38G
|
A13G
|
|
c.40C>G
|
c.C40G
|
L14V
|
|
c.40C>T
|
c.C40T
|
L14F
|
|
c.41T>A
|
c.T41A
|
L14H
|
|
c.43G>A
|
c.G43A
|
A15T
|
|
c.44C>G
|
c.C44G
|
A15G
|
|
c.49C>A
|
c.C49A
|
R17S
|
|
c.49C>G
|
c.C49G
|
R17G
|
|
c.49C>T
|
c.C49T
|
R17C
|
|
c.50G>A
|
c.G50A
|
R17H
|
|
c.50G>C
|
c.G50C
|
R17P
|
|
c.52T>A
|
c.T52A
|
F18I
|
|
c.53T>G
|
c.T53G
|
F18C
|
|
c.54C>G
|
c.C54G
|
F18L
|
|
c.58G>C
|
c.G58C
|
A20P
|
|
c.59C>A
|
c.C59A
|
A20D
|
|
c.59C>G
|
c.C59G
|
A20G
|
|
c.62T>A
|
c.T62A
|
L21H
|
|
c.64G>A
|
c.G64A
|
V22I
|
|
c.64G>C
|
c.G64C
|
V22L
|
|
c.64G>T
|
c.G64T
|
V22F
|
|
c.65T>C
|
c.T65C
|
V22A
|
|
c.65T>G
|
c.T65G
|
V22G
|
|
c.67T>A
|
c.T67A
|
S23T
|
|
c.67T>C
|
c.T67C
|
S23P
|
|
c.[70T>A; 1255A>G]
|
c.T70A/A1255G
|
W24R/N419D
|
|
c.70T>C oder c.70T>A
|
c.T70C oder c.T70A
|
W24R
|
|
c.70T>G
|
c.T70G
|
W24G
|
|
c.71G>C
|
c.G71C
|
W24S
|
|
c.72G>C oder c.72G>T
|
c.G72C oder c.G72T
|
W24C
|
|
c.73G>C
|
c.G73C
|
D25H
|
|
c.77T>A
|
c.T77A
|
I26N
|
|
c.79C>A
|
c.C79A
|
P27T
|
|
c.79C>G
|
c.C79G
|
P27A
|
|
c.79C>T
|
c.C79T
|
P27S
|
|
c.80C>T
|
c.C80T
|
P27L
|
|
c.82G>C
|
c.G82C
|
G28R
|
|
c.82G>T
|
c.G82T
|
G28W
|
|
c.83G>A
|
c.G83A
|
G28E
|
|
c.85G>C
|
c.G85C
|
A29P
|
|
c.86C>A
|
c.C86A
|
A29D
|
|
c.86C>G
|
c.C86G
|
A29G
|
|
c.86C>T
|
c.C86T
|
A29V
|
|
c.88A>G
|
c.A88G
|
R30G
|
|
c.94C>A
|
c.C94A
|
L32M
|
|
c.94C>G
|
c.C94G
|
L32V
|
|
c.95T>A
|
c.T95A
|
L32Q
|
|
c.95T>C
|
c.T95C
|
L32P
|
|
c.95T>G
|
c.T95G
|
L32R
|
|
c.97G>C
|
c.G97C
|
D33H
|
|
c.97G>T
|
c.G97T
|
D33Y
|
|
c.98A>C
|
c.A98C
|
D33A
|
|
c.98A>G
|
c.A98G
|
D33G
|
|
c.98A>T
|
c.A98T
|
D33V
|
|
c.99C>G
|
c.C99G
|
D33E
|
|
c.100A>C
|
c.A100C
|
N34H
|
|
c.100A>G
|
c.A100G
|
N34D
|
|
c.101A>C
|
c.A101C
|
N34T
|
|
c.101A>G
|
c.A101G
|
N34S
|
|
c.102T>G oder c.102T>A
|
c.T102G oder c.T102A
|
N34K
|
|
c.103G>C oder c.103G>A
|
c.G103C oder c.G103A
|
G35R
|
|
c.104G>A
|
c.G104A
|
G35E
|
|
c.104G>C
|
c.G104C
|
G35A
|
|
c.104G>T
|
c.G104T
|
G35V
|
|
c.106T>A
|
c.T106A
|
L36M
|
|
c.106T>G
|
c.T106G
|
L36V
|
|
c.107T>C
|
c.T107C
|
L36S
|
|
c.107T>G
|
c.T107G
|
L36W
|
|
c.108G>C oder c.108G>T
|
c.G108C oder c.G108T
|
L36F
|
|
c.109G>A
|
c.G109A
|
A37T
|
|
c.109G>T
|
c.G109T
|
A37S
|
|
c.110C>A
|
c.C110A
|
A37E
|
|
c.110C>G
|
c.C110G
|
A37G
|
|
c.110C>T
|
c.C110T
|
A37V
|
|
c.112A>G
|
c.A112G
|
R38G
|
|
c.112A>T
|
c.A112T
|
R38W
|
|
c.113G>T
|
c.G113T
|
R38M
|
|
c.114G>C
|
c.G114C
|
R38S
|
|
c.115A>G
|
c.A115G
|
T39A
|
|
c.115A>T
|
c.A115T
|
T39S
|
|
c.116C>A
|
c.C116A
|
T39K
|
|
c.116C>G
|
c.C116G
|
T39R
|
|
c.116C>T
|
c.C116T
|
T39M
|
|
c.121A>G
|
c.A121G
|
T41A
|
|
c.122C>A
|
c.C122A
|
T41N
|
|
c.122C>G
|
c.C122G
|
T41S
|
|
c.122C>T
|
c.C122T
|
T41I
|
|
c.124A>C oder c.124A>T
|
c.A124C oder c.A124T
|
M42L
|
|
c.124A>G
|
c.A124G
|
M42V
|
|
c.125T>A
|
c.T125A
|
M42K
|
|
c.125T>C
|
c.T125C
|
M42T
|
|
c.125T>G
|
c.T125G
|
M42R
|
|
c.126G>A oder c.126G>C oder c.126G>T
|
c.G126A oder c.G126C oder c.G126T
|
M42I
|
|
c.128G>C
|
c.G128C
|
G43A
|
|
c.133C>A
|
c.C133A
|
L45M
|
|
c.133C>G
|
c.C133G
|
L45V
|
|
c.136C>A
|
c.C136A
|
H46N
|
|
c.136C>G
|
c.C136G
|
H46D
|
|
c.137A>C
|
c.A137C
|
H46P
|
|
c.138C>G
|
c.C138G
|
H46Q
|
|
c.142G>C
|
c.G142C
|
E48Q
|
|
c.143A>C
|
c.A143C
|
E48A
|
|
c.149T>A
|
c.T149A
|
F50Y
|
|
c.151A>G
|
c.A151G
|
M51V
|
|
c.152T>A
|
c.T152A
|
M51K
|
|
c.152T>C
|
c.T152C
|
M51T
|
|
c.152T>G
|
c.T152G
|
M51R
|
|
c.153G>A oder c.153G>T oder c.153G>C
|
c.G153A oder c.G153T oder c.G153C
|
M51I
|
|
c.157A>C
|
c.A157C
|
N53H
|
|
c.[157A>C; 158A>T]
|
c.A157C/A158T
|
N53L
|
|
c.157A>G
|
c.A157G
|
N53D
|
|
c.157A>T
|
c.A157T
|
N53Y
|
|
c.158A>C
|
c.A158C
|
N53T
|
|
c.158A>G
|
c.A158G
|
N53S
|
|
c.158A>T
|
c.A158T
|
N53I
|
|
c.159C>G oder c.159C>A
|
c.C159G oder c.C159A
|
N53K
|
|
c.160C>G
|
c.C160G
|
L54V
|
|
c.160C>T
|
c.C160T
|
L54F
|
|
c.161T>A
|
c.T161A
|
L54H
|
|
c.161T>C
|
c.T161C
|
L54P
|
|
c.161T>G
|
c.T161G
|
L54R
|
|
c.163G>C
|
c.G163C
|
D55H
|
|
c.163G>T
|
c.G163T
|
D55Y
|
|
c.164A>C
|
c.A164C
|
D55A
|
|
c.164A>G
|
c.A164G
|
D55G
|
|
c.164A>T
|
c.A164T
|
D55V
|
|
c.[164A>T; 170A>T]
|
c.A164T/A170T
|
D55V/Q57L
|
|
c.165C>G
|
c.C165G
|
D55E
|
|
c.167G>A
|
c.G167A
|
C56Y
|
|
c.167G>T
|
c.G167T
|
C56F
|
|
c.168C>G
|
c.C168G
|
C56W
|
|
c.170A>G
|
c.A170G
|
Q57R
|
|
c.170A>T
|
c.A170T
|
Q57L
|
|
c.172G>A
|
c.G172A
|
E58K
|
|
c.175G>A
|
c.G175A
|
E59K
|
|
c.175G>C
|
c.G175C
|
E59Q
|
|
c.176A>C
|
c.A176C
|
E59A
|
|
c.176A>G
|
c.A176G
|
E59G
|
|
c.176A>T
|
c.A176T
|
E59V
|
|
c.177G>C
|
c.G177C
|
E59D
|
|
c.178C>A
|
c.C178A
|
P60T
|
|
c.178C>G
|
c.C178G
|
P60A
|
|
c.178C>T
|
c.C178T
|
P60S
|
|
c.179C>A
|
c.C179A
|
P60Q
|
|
c.179C>G
|
c.C179G
|
P60R
|
|
c.179C>T
|
c.C179T
|
P60L
|
|
c.182A>T
|
c.A182T
|
D61V
|
|
c.183T>A
|
c.T183A
|
D61E
|
|
c.184_185insTAG
|
c.184_185insTAG
|
S62delinsLA
|
|
c.184T>C
|
c.T184C
|
S62P
|
|
c.184T>G
|
c.T184G
|
S62A
|
|
c.185C>A
|
c.C185A
|
S62Y
|
|
c.185C>G
|
c.C185G
|
S62C
|
|
c.185C>T
|
c.C185T
|
S62F
|
|
c.190A>C
|
c.A190C
|
I64L
|
|
c.190A>G
|
c.A190G
|
I64V
|
|
c.193A>G
|
c.A193G
|
S65G
|
|
c.193A>T
|
c.A193T
|
S65C
|
|
c.195T>A
|
c.T195A
|
S65R
|
|
c.196G>A
|
c.G196A
|
E66K
|
|
c.197A>G
|
c.A197G
|
E66G
|
|
c.197A>T
|
c.A197T
|
E66V
|
|
c.198G>C
|
c.G198C
|
E66D
|
|
c.199A>C
|
c.A199C
|
K67Q
|
|
c.199A>G
|
c.A199G
|
K67E
|
|
c.200A>C
|
c.A200C
|
K67T
|
|
c.200A>T
|
c.A200T
|
K67M
|
|
c.201G>C
|
c.G201C
|
K67N
|
|
c.202C>A
|
c.C202A
|
L68I
|
|
c.205T>A
|
c.T205A
|
F69I
|
|
c.206T>A
|
c.T206A
|
F69Y
|
|
c.207C>A oder c.207C>G
|
c.C207A oder c.C207G
|
F69L
|
|
c.208A>T
|
c.A208T
|
M70L
|
|
c.209T>A
|
c.T209A
|
M70K
|
|
c.209T>G
|
c.T209G
|
M70R
|
|
c.210G>C
|
c.G210C
|
M70I
|
|
c.211G>C
|
c.G211C
|
E71Q
|
|
c.212A>C
|
c.A212C
|
E71A
|
|
c.212A>G
|
c.A212G
|
E71G
|
|
c.212A>T
|
c.A212T
|
E71V
|
|
c.213G>C
|
c.G213C
|
E71D
|
|
c.214A>G
|
c.A214G
|
M72V
|
|
c.214A>T
|
c.A214T
|
M72L
|
|
c.215T>C
|
c.T215C
|
M72T
|
|
c.216G>A oder c.216G>T oder c.216G>C
|
c.G216A oder c.G216T oder c.G216C
|
M72I
|
|
c.217G>A
|
c.G217A
|
A73T
|
|
c.217G>T
|
c.G217T
|
A73S
|
|
c.218C>T
|
c.C218T
|
A73V
|
|
c.[218C>T; 525C>G]
|
c.C218T/C525G
|
A73V/D175E
|
|
c.220G>A
|
c.G220A
|
E74K
|
|
c.221A>G
|
c.A221G
|
E74G
|
|
c.221A>T
|
c.A221T
|
E74V
|
|
c.222G>C
|
c.G222C
|
E74D
|
|
c.223C>T
|
c.C223T
|
L75F
|
|
c.224T>C
|
c.T224C
|
L75P
|
|
c.226A>G
|
c.A226G
|
M76V
|
|
c.227T>C
|
c.T227C
|
M76T
|
|
c.229G>A
|
c.G229A
|
V77I
|
|
c.229G>C
|
c.G229C
|
V77L
|
|
c.232T>C
|
c.T232C
|
S78P
|
|
c.233C>T
|
c.C233T
|
S78L
|
|
c.235G>A
|
c.G235A
|
E79K
|
|
c.235G>C
|
c.G235C
|
E79Q
|
|
c.236A>C
|
c.A236C
|
E79A
|
|
c.236A>G
|
c.A236G
|
E79G
|
|
c.236A>T
|
c.A236T
|
E79V
|
|
c.237A>T
|
c.A237T
|
E79D
|
|
c.238G>A
|
c.G238A
|
G80S
|
|
c.238G>T
|
c.G238T
|
G80C
|
|
c.239G>A
|
c.G239A
|
G80D
|
|
c.239G>C
|
c.G239C
|
G80A
|
|
c.239G>T
|
c.G239T
|
G80V
|
|
c.242G>T
|
c.G242T
|
W81L
|
|
c.244A>G
|
c.A244G
|
K82E
|
|
c.245A>C
|
c.A245C
|
K82T
|
|
c.245A>G
|
c.A245G
|
K82R
|
|
c.245A>T
|
c.A245T
|
K82M
|
|
c.246G>C
|
c.G246C
|
K82N
|
|
c.247G>A
|
c.G247A
|
D83N
|
|
c.248A>C
|
c.A248C
|
D83A
|
|
c.248A>G
|
c.A248G
|
D83G
|
|
c.248A>T
|
c.A248T
|
D83V
|
|
c.249T>A
|
c.T249A
|
D83E
|
|
c.250G>A
|
c.G250A
|
A84T
|
|
c.250G>C
|
c.G250C
|
A84P
|
|
c.250G>T
|
c.G250T
|
A84S
|
|
c.251C>A
|
c.C251A
|
A84E
|
|
c.251C>G
|
c.C251G
|
A84G
|
|
c.251C>T
|
c.C251T
|
A84V
|
|
c.253G>A
|
c.G253A
|
G85S
|
|
c.[253G>A; 254G>A]
|
c.G253A/G254A
|
G85N
|
|
c.[253G>A; 254G>T; 255T>G]
|
c.G253A/G254T/T255G
|
G85M
|
|
c.253G>C
|
c.G253C
|
G85R
|
|
c.253G>T
|
c.G253T
|
G85C
|
|
c.254G>A
|
c.G254A
|
G85D
|
|
c.254G>C
|
c.G254C
|
G85A
|
|
c.257A>T
|
c.A257T
|
Y86F
|
|
c.260A>G
|
c.A260G
|
E87G
|
|
c.261G>C oder c.261G>T
|
c.G261C oder c.G261T
|
E87D
|
|
c.262T>A
|
c.T262A
|
Y88N
|
|
c.262T>C
|
c.T262C
|
Y88H
|
|
c.263A>C
|
c.A263C
|
Y88S
|
|
c.263A>G
|
c.A263G
|
Y88C
|
|
c.265C>G
|
c.C265G
|
L89V
|
|
c.265C>T
|
c.C265T
|
L89F
|
|
c.271A>C
|
c.A271C
|
I91L
|
|
c.271A>T
|
c.A271T
|
I91F
|
|
c.272T>C
|
c.T272C
|
I91T
|
|
c.272T>G
|
c.T272G
|
I91S
|
|
c.273T>G
|
c.T273G
|
I91M
|
|
c.286A>G
|
c.A286G
|
M96V
|
|
c.286A>T
|
c.A286T
|
M96L
|
|
c.287T>C
|
c.T287C
|
M96T
|
|
c.288G>A oder c.288G>T oder c.288G>C
|
c.G288A oder c.G288T oder c.G288C
|
M96I
|
|
c.289G>A
|
c.G289A
|
A97T
|
|
c.289G>C
|
c.G289C
|
A97P
|
|
c.289G>T
|
c.G289T
|
A97S
|
|
c.290C>A
|
c.C290A
|
A97D
|
|
c.290C>T
|
c.C290T
|
A97V
|
|
c.293C>A
|
c.C293A
|
P98H
|
|
c.293C>G
|
c.C293G
|
P98R
|
|
c.293C>T
|
c.C293T
|
P98L
|
|
c.295C>G
|
c.C295G
|
Q99E
|
|
c.296A>C
|
c.A296C
|
Q99P
|
|
c.296A>G
|
c.A296G
|
Q99R
|
|
c.296A>T
|
c.A296T
|
Q99L
|
|
c.301G>C
|
c.G301C
|
D101H
|
|
c.302A>C
|
c.A302C
|
D101A
|
|
c.302A>G
|
c.A302G
|
D101G
|
|
c.302A>T
|
c.A302T
|
D101V
|
|
c.303T>A
|
c.T303A
|
D101E
|
|
c.304T>A
|
c.T304A
|
S102T
|
|
c.304T>C
|
c.T304C
|
S102P
|
|
c.304T>G
|
c.T304G
|
S102A
|
|
c.305C>T
|
c.C305T
|
S102L
|
|
c.310G>A
|
c.G310A
|
G104S
|
|
c.311G>A
|
c.G311A
|
G104D
|
|
c.311G>C
|
c.G311C
|
G104A
|
|
c.311G>T
|
c.G311T
|
G104V
|
|
c.313A>G
|
c.A313G
|
R105G
|
|
c.314G>A
|
c.G314A
|
R105K
|
|
c.314G>C
|
c.G314C
|
R105T
|
|
c.314G>T
|
c.G314T
|
R105I
|
|
c.316C>A
|
c.C316A
|
L106I
|
|
c.316C>G
|
c.C316G
|
L106V
|
|
c.316C>T
|
c.C316T
|
L106F
|
|
c.317T>A
|
c.T317A
|
L106H
|
|
c.317T>C
|
c.T317C
|
L106P
|
|
c.319C>A
|
c.C319A
|
Q107K
|
|
c.319C>G
|
c.C319G
|
Q107E
|
|
c.320A>G
|
c.A320G
|
Q107R
|
|
c.321G>C
|
c.G321C
|
Q107H
|
|
c.322G>A
|
c.G322A
|
A108T
|
|
c.323C>A
|
c.C323A
|
A108E
|
|
c.323C>T
|
c.C323T
|
A108V
|
|
c.325G>A
|
c.G325A
|
D109N
|
|
c.325G>C
|
c.G325C
|
D109H
|
|
c.325G>T
|
c.G325T
|
D109Y
|
|
c.326A>C
|
c.A326C
|
D109A
|
|
c.326A>G
|
c.A326G
|
D109G
|
|
c.327C>G
|
c.C327G
|
D109E
|
|
c.328C>A
|
c.C328A
|
P110T
|
|
c.334C>G
|
c.C334G
|
R112G
|
|
c.335G>A
|
c.G335A
|
R112H
|
|
c.335G>T
|
c.G335T
|
R112L
|
|
c.337T>A
|
c.T337A
|
F113I
|
|
c.337T>C oder c.339T>A oder c.339T>G
|
c.T337C oder c.T339A oder c.T339G
|
F113L
|
|
c.337T>G
|
c.T337G
|
F113V
|
|
c.338T>A
|
c.T338A
|
F113Y
|
|
c.341C>T
|
c.C341T
|
P114L
|
|
c.343C>A
|
c.C343A
|
H115N
|
|
c.343C>G
|
c.C343G
|
H115D
|
|
c.346G>C
|
c.G346C
|
G116R
|
|
c.350T>C
|
c.T350C
|
I117T
|
|
c.351T>G
|
c.T351G
|
I117M
|
|
c.352C>T
|
c.C352T
|
R118C
|
|
c.361G>A
|
c.G361A
|
A121T
|
|
c.362C>T
|
c.C362T
|
A121V
|
|
c.367T>A
|
c.T367A
|
Y123N
|
|
c.367T>G
|
c.T367G
|
Y123D
|
|
c.368A>C
|
c.A368C
|
Y123S
|
|
c.368A>G
|
c.A368G
|
Y123C
|
|
c.368A>T
|
c.A368T
|
Y123F
|
|
c.370G>A
|
c.G370A
|
V124I
|
|
c.371T>G
|
c.T371G
|
V124G
|
|
c.373C>A
|
c.C373A
|
H125N
|
|
c.373C>G
|
c.C373G
|
H125D
|
|
c.373C>T
|
c.C373T
|
H125Y
|
|
c.374A>G
|
c.A374G
|
H125R
|
|
c.374A>T
|
c.A374T
|
H125L
|
|
c.376A>G
|
c.A376G
|
S126G
|
|
c.376A>T
|
c.A376T
|
S126C
|
|
c.377G>T
|
c.G377T
|
S126I
|
|
c.379A>G
|
c.A379G
|
K127E
|
|
c.383G>A
|
c.G383A
|
G128E
|
|
c.383G>C
|
c.G383C
|
G128A
|
|
c.385C>G
|
c.C385G
|
L129V
|
|
c.388A>C
|
c.A388C
|
K130Q
|
|
c.389A>T
|
c.A389T
|
K130M
|
|
c.390G>C
|
c.G390C
|
K130N
|
|
c.391C>G
|
c.C391G
|
L131V
|
|
c.397A>C
|
c.A397C
|
I133L
|
|
c.397A>G
|
c.A397G
|
I133V
|
|
c.397A>T
|
c.A397T
|
I133F
|
|
c.398T>C
|
c.T398C
|
I133T
|
|
c.399T>G
|
c.T399G
|
I133M
|
|
c.[399T>G; 434T>C]
|
c.T399G/T434C
|
I133M/F145S
|
|
c.403G>A
|
c.G403A
|
A135T
|
|
c.403G>T
|
c.G403T
|
A135S
|
|
c.404C>A
|
c.C404A
|
A135E
|
|
c.404C>G
|
c.C404G
|
A135G
|
|
c.404C>T
|
c.C404T
|
A135V
|
|
c.406G>A
|
c.G406A
|
D136N
|
|
c.407A>C
|
c.A407C
|
D136A
|
|
c.407A>T
|
c.A407T
|
D136V
|
|
c.408T>A oder c.408T>G
|
c.T408A oder c.T408G
|
D136E
|
|
c.409G>A
|
c.G409A
|
V137I
|
|
c.409G>C
|
c.G409C
|
V137L
|
|
c.410T>A
|
c.T410A
|
V137D
|
|
c.410T>C
|
c.T410C
|
V137A
|
|
c.410T>G
|
c.T410G
|
V137G
|
|
c.413G>C
|
c.G413C
|
G138A
|
|
c.415A>C
|
c.A415C
|
N139H
|
|
c.415A>T
|
c.A415T
|
N139Y
|
|
c.416A>G
|
c.A416G
|
N139S
|
|
c.416A>T
|
c.A416T
|
N139I
|
|
c.417T>A
|
c.T417A
|
N139K
|
|
c.418A>C
|
c.A418C
|
K140Q
|
|
c.418A>G
|
c.A418G
|
K140E
|
|
c.419A>C
|
c.A419C
|
K140T
|
|
c.419A>G
|
c.A419G
|
K140R
|
|
c.419A>T
|
c.A419T
|
K140I
|
|
c.420A>T
|
c.A420T
|
K140N
|
|
c.421A>T
|
c.A421T
|
T141S
|
|
c.427G>A
|
c.G427A
|
A143T
|
|
c.428C>A
|
c.C428A
|
A143E
|
|
c.428C>G
|
c.C428G
|
A143G
|
|
c.428C>T
|
c.C428T
|
A143V
|
|
c.430G>A
|
c.G430A
|
G144S
|
|
c.430G>C
|
c.G430C
|
G144R
|
|
c.430G>T
|
c.G430T
|
G144C
|
|
c.431G>A
|
c.G431A
|
G144D
|
|
c.431G>C
|
c.G431C
|
G144A
|
|
c.431G>T
|
c.G431T
|
G144V
|
|
c.433T>G
|
c.T433G
|
F145V
|
|
c.434T>A
|
c.T434A
|
F145Y
|
|
c.434T>C
|
c.T434C
|
F145S
|
|
c.434T>G
|
c.T434G
|
F145C
|
|
c.435C>G
|
c.C435G
|
F145L
|
|
c.436C>A
|
c.C436A
|
P146T
|
|
c.436C>G
|
c.C436G
|
P146A
|
|
c.436C>T
|
c.C436T
|
P146S
|
|
c.437C>A
|
c.C437A
|
P146H
|
|
c.437C>G
|
c.C437G
|
P146R
|
|
c.437C>T
|
c.C437T
|
P146L
|
|
c.440G>C
|
c.G440C
|
G147A
|
|
c.442A>G
|
c.A442G
|
S148G
|
|
c.442A>T
|
c.A442T
|
S148C
|
|
c.443G>C
|
c.G443C
|
S148T
|
|
c.446T>G
|
c.T446G
|
F149C
|
|
c.449G>A
|
c.G449A
|
G150E
|
|
c.449G>T
|
c.G449T
|
G150V
|
|
c.451T>G
|
c.T451G
|
Y151D
|
|
c.452A>C
|
c.A452C
|
Y151S
|
|
c.452A>G
|
c.A452G
|
Y151C
|
|
c.454T>A
|
c.T454A
|
Y152N
|
|
c.454T>C
|
c.T454C
|
Y152H
|
|
c.454T>G
|
c.T454G
|
Y152D
|
|
c.455A>C
|
c.A455C
|
Y152S
|
|
c.455A>G
|
c.A455G
|
Y152C
|
|
c.455A>T
|
c.A455T
|
Y152F
|
|
c.457G>A
|
c.G457A
|
D153N
|
|
c.457G>C
|
c.G457C
|
D153H
|
|
c.457G>T
|
c.G457T
|
D153Y
|
|
c.458A>C
|
c.A458C
|
D153A
|
|
c.458A>T
|
c.A458T
|
D153V
|
|
c.465T>A oder c.465T>G
|
c.T465A oder c.T465G
|
D155E
|
|
c.466G>A
|
c.G466A
|
A156T
|
|
c.466G>T
|
c.G466T
|
A156S
|
|
c.467C>G
|
c.C467G
|
A156G
|
|
c.467C>T
|
c.C467T
|
A156V
|
|
c.469C>A
|
c.C469A
|
Q157K
|
|
c.469C>G
|
c.C469G
|
Q157E
|
|
c.470A>C
|
c.A470C
|
Q157P
|
|
c.470A>T
|
c.A470T
|
Q157L
|
|
c.471G>C oder c.471G>T
|
c.G471C oder c.G471T
|
Q157H
|
|
c.472A>G
|
c.A472G
|
T158A
|
|
c.472A>T
|
c.A472T
|
T158S
|
|
c.473C>A
|
c.C473A
|
T158N
|
|
c.473C>T
|
c.C473T
|
T158I
|
|
c.475T>A
|
c.T475A
|
F159I
|
|
c.475T>G
|
c.T475G
|
F159V
|
|
c.476T>A
|
c.T476A
|
F159Y
|
|
c.476T>G
|
c.T476G
|
F159C
|
|
c.477T>A
|
c.T477A
|
F159L
|
|
c.478G>A
|
c.G478A
|
A160T
|
|
c.478G>T
|
c.G478T
|
A160S
|
|
c.479C>A
|
c.C479A
|
A160D
|
|
c.479C>G
|
c.C479G
|
A160G
|
|
c.479C>T
|
c.C479T
|
A160V
|
|
c.481G>A
|
c.G481A
|
D161N
|
|
c.481G>C
|
c.G481C
|
D161H
|
|
c.481G>T
|
c.G481T
|
D161Y
|
|
c.482A>T
|
c.A482T
|
D161V
|
|
c.484T>G
|
c.T484G
|
W162G
|
|
c.485G>C
|
c.G485C
|
W162S
|
|
c.490G>A
|
c.G490A
|
V164I
|
|
c.490G>T
|
c.G490T
|
V164L
|
|
c.491T>C
|
c.T491C
|
V164A
|
|
c.493G>A
|
c.G493A
|
D165N
|
|
c.493G>C
|
c.G493C
|
D165H
|
|
c.494A>C
|
c.A494C
|
D165A
|
|
c.494A>G
|
c.A494G
|
D165G
|
|
c.495T>A
|
c.T495A
|
D165E
|
|
c.496_497delinsTC
|
c.496_497delinsTC
|
L166S
|
|
c.496C>A
|
c.C496A
|
L166M
|
|
c.496C>G
|
c.C496G
|
L166V
|
|
c.[496C>G; 497T>G]
|
c.C496G/T497G
|
L166G
|
|
c.497T>A
|
c.T497A
|
L166Q
|
|
c.499C>A
|
c.C499A
|
L167I
|
|
c.499C>G
|
c.C499G
|
L167V
|
|
c.505T>A
|
c.T505A
|
F169I
|
|
c.505T>G
|
c.T505G
|
F169V
|
|
c.506T>A
|
c.T506A
|
F169Y
|
|
c.506T>C
|
c.T506C
|
F169S
|
|
c.506T>G
|
c.T506G
|
F169C
|
|
c.507T>A
|
c.T507A
|
F169L
|
|
c.511G>A
|
c.G511A
|
G171S
|
|
c.512G>C
|
c.G512C
|
G171A
|
|
c.512G>T
|
c.G512T
|
G171V
|
|
c.517T>C
|
c.T517C
|
Y173H
|
|
c.518A>C
|
c.A518C
|
Y173S
|
|
c.518A>G
|
c.A518G
|
Y173C
|
|
c.518A>T
|
c.A518T
|
Y173F
|
|
c.520T>C
|
c.T520C
|
C174R
|
|
c.520T>G
|
c.T520G
|
C174G
|
|
c.523G>C
|
c.G523C
|
D175H
|
|
c.523G>T
|
c.G523T
|
D175Y
|
|
c.524A>G
|
c.A524G
|
D175G
|
|
c.524A>T
|
c.A524T
|
D175V
|
|
c.525C>G oder c.525C>A
|
c.C525G oder c.C525A
|
D175E
|
|
c.526A>T
|
c.A526T
|
S176C
|
|
c.528T>A
|
c.T528A
|
S176R
|
|
c.529T>A
|
c.T529A
|
L177M
|
|
c.529T>G
|
c.T529G
|
L177V
|
|
c.530T>C
|
c.T530C
|
L177S
|
|
c.530T>G
|
c.T530G
|
L177W
|
|
c.531G>C
|
c.G531C
|
L177F
|
|
c.532G>A
|
c.G532A
|
E178K
|
|
c.532G>C
|
c.G532C
|
E178Q
|
|
c.533A>C
|
c.A533C
|
E178A
|
|
c.533A>G
|
c.A533G
|
E178G
|
|
c.538T>A
|
c.T538A
|
L180M
|
|
c.538T>G
|
c.T538G
|
L180V
|
|
c.539T>C
|
c.T539C
|
L180S
|
|
c.539T>G
|
c.T539G
|
L180W
|
|
c.540G>C oder c.540G>T
|
c.G540C oder c.G540T
|
L180F
|
|
c.541G>A
|
c.G541A
|
A181T
|
|
c.541G>C
|
c.G541C
|
A181P
|
|
c.542C>T
|
c.C542T
|
A181V
|
|
c.544G>T
|
c.G544T
|
D182Y
|
|
c.545A>C
|
c.A545C
|
D182A
|
|
c.545A>G
|
c.A545G
|
D182G
|
|
c.545A>T
|
c.A545T
|
D182V
|
|
c.546T>A
|
c.T546A
|
D182E
|
|
c.548G>A
|
c.G548A
|
G183D
|
|
c.548G>C
|
c.G548C
|
G183A
|
|
c.550T>A
|
c.T550A
|
Y184N
|
|
c.550T>C
|
c.T550C
|
Y184H
|
|
c.551A>C
|
c.A551C
|
Y184S
|
|
c.551A>G
|
c.A551G
|
Y184C
|
|
c.551A>T
|
c.A551T
|
Y184F
|
|
c.553A>C
|
c.A553C
|
K185Q
|
|
c.553A>G
|
c.A553G
|
K185E
|
|
c.554A>C
|
c.A554C
|
K185T
|
|
c.554A>T
|
c.A554T
|
K185M
|
|
c.555G>C
|
c.G555C
|
K185N
|
|
c.556C>A
|
c.C556A
|
H186N
|
|
c.556C>G
|
c.C556G
|
H186D
|
|
c.556C>T
|
c.C556T
|
H186Y
|
|
c.557A>T
|
c.A557T
|
H186L
|
|
c.558C>G
|
c.C558G
|
H186Q
|
|
c.559_564dup
|
c.559_564dup
|
p.M187_S188dup
|
|
c.559A>T
|
c.A559T
|
M187L
|
|
c.559A>G
|
c.A559G
|
M187V
|
|
c.560T>C
|
c.T560C
|
M187T
|
|
c.561G>T oder c.561G>A oder c.561G>C
|
c.G561T oder c.G561A oder c.G561C
|
M187I
|
|
c.562T>A
|
c.T562A
|
S188T
|
|
c.562T>C
|
c.T562C
|
S188P
|
|
c.562T>G
|
c.T562G
|
S188A
|
|
c.563C>A
|
c.C563A
|
S188Y
|
|
c.563C>G
|
c.C563G
|
S188C
|
|
c.563C>T
|
c.C563T
|
S188F
|
|
c.565T>G
|
c.T565G
|
L189V
|
|
c.566T>C
|
c.T566C
|
L189S
|
|
c.567G>C oder c.567G>T
|
c.G567C oder c.G567T
|
L189F
|
|
c.568G>A
|
c.G568A
|
A190T
|
|
c.568G>T
|
c.G568T
|
A190S
|
|
c.569C>A
|
c.C569A
|
A190D
|
|
c.569C>G
|
c.C569G
|
A190G
|
|
c.569C>T
|
c.C569T
|
A190V
|
|
c.571C>A
|
c.C571A
|
L191M
|
|
c.571C>G
|
c.C571G
|
L191V
|
|
c.572T>A
|
c.T572A
|
L191Q
|
|
c.574A>C
|
c.A574C
|
N192H
|
|
c.574A>G
|
c.A574G
|
N192D
|
|
c.575A>C
|
c.A575C
|
N192T
|
|
c.575A>G
|
c.A575G
|
N192S
|
|
c.576T>A
|
c.T576A
|
N192K
|
|
c.577A>G
|
c.A577G
|
R193G
|
|
c.577A>T
|
c.A577T
|
R193W
|
|
c.578G>C
|
c.G578C
|
R193T
|
|
c.578G>T
|
c.G578T
|
R193M
|
|
c.580A>C
|
c.A580C
|
T194P
|
|
c.580A>G
|
c.A580G
|
T194A
|
|
c.580A>T oder c.581C>G
|
c.A580T oder c.C581G
|
T194S
|
|
c.581C>A
|
c.C581A
|
T194N
|
|
c.581C>T
|
c.C581T
|
T194I
|
|
c.583G>A
|
c.G583A
|
G195S
|
|
c.583G>C
|
c.G583C
|
G195R
|
|
c.583G>T
|
c.G583T
|
G195C
|
|
c.584G>T
|
c.G584T
|
G195V
|
|
c.586A>G
|
c.A586G
|
R196G
|
|
c.587G>A
|
c.G587A
|
R196K
|
|
c.587G>C
|
c.G587C
|
R196T
|
|
c.587G>T
|
c.G587T
|
R196I
|
|
c.589A>G
|
c.A589G
|
S197G
|
|
c.589A>T
|
c.A589T
|
S197C
|
|
c.590G>A
|
c.G590A
|
S197N
|
|
c.590G>C
|
c.G590C
|
S197T
|
|
c.590G>T
|
c.G590T
|
S197I
|
|
c.593T>C
|
c.T593C
|
I198T
|
|
c.593T>G
|
c.T593G
|
I198S
|
|
c.594T>G
|
c.T594G
|
I198M
|
|
c.595G>A
|
c.G595A
|
V199M
|
|
c.595G>C
|
c.G595C
|
V199L
|
|
c.596T>A
|
c.T596A
|
V199E
|
|
c.596T>C
|
c.T596C
|
V199A
|
|
c.596T>G
|
c.T596G
|
V199G
|
|
c.598T>A
|
c.T598A
|
Y200N
|
|
c.599A>C
|
c.A599C
|
Y200S
|
|
c.599A>G
|
c.A599G
|
Y200C
|
|
c.601T>A
|
c.T601A
|
S201T
|
|
c.601T>G
|
c.T601G
|
S201A
|
|
c.602C>A
|
c.C602A
|
S201Y
|
|
c.602C>G
|
c.C602G
|
S201C
|
|
c.602C>T
|
c.C602T
|
S201F
|
|
c.607G>C
|
c.G607C
|
E203Q
|
|
c.608A>C
|
c.A608C
|
E203A
|
|
c.608A>G
|
c.A608G
|
E203G
|
|
c.608A>T
|
c.A608T
|
E203V
|
|
c.609G>C oder c.609G>T
|
c.G609C oder c.G609T
|
E203D
|
|
c.610T>G
|
c.T610G
|
W204G
|
|
c.611G>C
|
c.G611C
|
W204S
|
|
c.611G>T
|
c.G611T
|
W204L
|
|
c.613C>A
|
c.C613A
|
P205T
|
|
c.613C>T
|
c.C613T
|
P205S
|
|
c.614C>T
|
c.C614T
|
P205L
|
|
c.616C>A
|
c.C616A
|
L206I
|
|
c.616C>G
|
c.C616G
|
L206V
|
|
c.616C>T
|
c.C616T
|
L206F
|
|
c.617T>A
|
c.T617A
|
L206H
|
|
c.617T>G
|
c.T617G
|
L206R
|
|
c.619T>C
|
c.T619C
|
Y207H
|
|
c.620A>C
|
c.A620C
|
Y207S
|
|
c.620A>T
|
c.A620T
|
Y207F
|
|
c.623T>A
|
c.T623A
|
M208K
|
|
c.623T>G
|
c.T623G
|
M208R
|
|
c.625T>A
|
c.T625A
|
W209R
|
|
c.625T>G
|
c.T625G
|
W209G
|
|
c.627G>C
|
c.G627C
|
W209C
|
|
c.628C>A
|
c.C628A
|
P210T
|
|
c.628C>T
|
c.C628T
|
P210S
|
|
c.629C>A
|
c.C629A
|
P210H
|
|
c.629C>T
|
c.C629T
|
P210L
|
|
c.631T>C
|
c.T631C
|
F211L
|
|
c.631T>G
|
c.T631G
|
F211V
|
|
c.632T>A
|
c.T632A
|
F211Y
|
|
c.632T>C
|
c.T632C
|
F211S
|
|
c.632T>G
|
c.T632G
|
F211C
|
|
c.635A>C
|
c.A635C
|
Q212P
|
|
c.636A>T
|
c.A636T
|
Q212H
|
|
c.637A>C
|
c.A637C
|
K213Q
|
|
c.637A>G
|
c.A637G
|
K213E
|
|
c.638A>G
|
c.A638G
|
K213R
|
|
c.638A>T
|
c.A638T
|
K213M
|
|
c.640C>A
|
c.C640A
|
P214T
|
|
c.640C>G
|
c.C640G
|
P214A
|
|
c.640C>T
|
c.C640T
|
P214S
|
|
c.641C>A
|
c.C641A
|
P214H
|
|
c.641C>G
|
c.C641G
|
P214R
|
|
c.641C>T
|
c.C641T
|
P214L
|
|
c.643A>C
|
c.A643C
|
N215H
|
|
c.643A>G
|
c.A643G
|
N215D
|
|
c.643A>T
|
c.A643T
|
N215Y
|
|
c.644A>C
|
c.A644C
|
N215T
|
|
c.644A>G
|
c.A644G
|
N215S
|
|
c.[644A>G; 937G>T]
|
c.A644G/G937T
|
N215S/D313Y
|
|
c.644A>T
|
c.A644T
|
N215I
|
|
c.645T>A
|
c.T645A
|
N215K
|
|
c.646T>A
|
c.T646A
|
Y216N
|
|
c.646T>C
|
c.T646C
|
Y216H
|
|
c.646T>G
|
c.T646G
|
Y216D
|
|
c.647A>C
|
c.A647C
|
Y216S
|
|
c.647A>G
|
c.A647G
|
Y216C
|
|
c.647A>T
|
c.A647T
|
Y216F
|
|
c.649A>C
|
c.A649C
|
T217P
|
|
c.649A>G
|
c.A649G
|
T217A
|
|
c.649A>T
|
c.A649T
|
T217S
|
|
c.650C>A
|
c.C650A
|
T217K
|
|
c.650C>G
|
c.C650G
|
T217R
|
|
c.650C>T
|
c.C650T
|
T217I
|
|
c.652G>A
|
c.G652A
|
E218K
|
|
c.652G>C
|
c.G652C
|
E218Q
|
|
c.653A>C
|
c.A653C
|
E218A
|
|
c.653A>G
|
c.A653G
|
E218G
|
|
c.653A>T
|
c.A653T
|
E218V
|
|
c.654A>T
|
c.A654T
|
E218D
|
|
c.655A>C
|
c.A655C
|
I219L
|
|
c.655A>T
|
c.A655T
|
I219F
|
|
c.656T>A
|
c.T656A
|
I219N
|
|
c.656T>C
|
c.T656C
|
I219T
|
|
c.656T>G
|
c.T656G
|
I219S
|
|
c.657C>G
|
c.C657G
|
I219M
|
|
c.659G>A
|
c.G659A
|
R220Q
|
|
c.659G>C
|
c.G659C
|
R220P
|
|
c.659G>T
|
c.G659T
|
R220L
|
|
c.661C>A
|
c.C661A
|
Q221K
|
|
c.661C>G
|
c.C661G
|
Q221E
|
|
c.662A>C
|
c.A662C
|
Q221P
|
|
c.662A>G
|
c.A662G
|
Q221R
|
|
c.662A>T
|
c.A662T
|
Q221L
|
|
c.663G>C
|
c.G663C
|
Q221H
|
|
c.664T>A
|
c.T664A
|
Y222N
|
|
c.664T>C
|
c.T664C
|
Y222H
|
|
c.664T>G
|
c.T664G
|
Y222D
|
|
c.665A>C
|
c.A665C
|
Y222S
|
|
c.665A>G
|
c.A665G
|
Y222C
|
|
c.670A>C
|
c.A670C
|
N224H
|
|
c.671A>C
|
c.A671C
|
N224T
|
|
c.671A>G
|
c.A671G
|
N224S
|
|
c.673C>G
|
c.C673G
|
H225D
|
|
c.679C>G
|
c.C679G
|
R227G
|
|
c.682A>C
|
c.A682C
|
N228H
|
|
c.682A>G
|
c.A682G
|
N228D
|
|
c.683A>C
|
c.A683C
|
N228T
|
|
c.683A>G
|
c.A683G
|
N228S
|
|
c.683A>T
|
c.A683T
|
N228I
|
|
c.685T>A
|
c.T685A
|
F229I
|
|
c.686T>A
|
c.T686A
|
F229Y
|
|
c.686T>C
|
c.T686C
|
F229S
|
|
c.687T>A oder c.687T>G
|
c.T687A oder c.T687G
|
F229L
|
|
c.688G>C
|
c.G688C
|
A230P
|
|
c.689C>A
|
c.C689A
|
A230D
|
|
c.689C>G
|
c.C689G
|
A230G
|
|
c.689C>T
|
c.C689T
|
A230V
|
|
c.694A>C
|
c.A694C
|
I232L
|
|
c.694A>G
|
c.A694G
|
I232V
|
|
c.695T>C
|
c.T695C
|
I232T
|
|
c.696T>G
|
c.T696G
|
I232M
|
|
c.698A>C
|
c.A698C
|
D233A
|
|
c.698A>G
|
c.A698G
|
D233G
|
|
c.698A>T
|
c.A698T
|
D233V
|
|
c.699T>A
|
c.T699A
|
D233E
|
|
c.703T>A
|
c.T703A
|
S235T
|
|
c.703T>G
|
c.T703G
|
S235A
|
|
c.710A>T
|
c.A710T
|
K237I
|
|
c.712A>G
|
c.A712G
|
S238G
|
|
c.712A>T
|
c.A712T
|
S238C
|
|
c.713G>A
|
c.G713A
|
S238N
|
|
c.713G>C
|
c.G713C
|
S238T
|
|
c.713G>T
|
c.G713T
|
S238I
|
|
c.715A>T
|
c.A715T
|
I239L
|
|
c.716T>C
|
c.T716C
|
I239T
|
|
c.717A>G
|
c.A717G
|
I239M
|
|
c.718A>G
|
c.A718G
|
K240E
|
|
c.719A>G
|
c.A719G
|
K240R
|
|
c.719A>T
|
c.A719T
|
K240M
|
|
c.720G>C oder c.720G>T
|
c.G720C oder c.G720T
|
K240N
|
|
c.721A>T
|
c.A721T
|
S241C
|
|
c.722G>C
|
c.G722C
|
S241T
|
|
c.722G>T
|
c.G722T
|
S241I
|
|
c.724A>C
|
c.A724C
|
I242L
|
|
c.724A>G
|
c.A724G
|
I242V
|
|
c.724A>T
|
c.A724T
|
I242F
|
|
c.725T>A
|
c.T725A
|
I242N
|
|
c.725T>C
|
c.T725C
|
I242T
|
|
c.725T>G
|
c.T725G
|
I242S
|
|
c.726C>G
|
c.C726G
|
I242M
|
|
c.727T>A
|
c.T727A
|
L243M
|
|
c.727T>G
|
c.T727G
|
L243V
|
|
c.728T>C
|
c.T728C
|
L243S
|
|
c.728T>G
|
c.T728G
|
L243W
|
|
c.729G>C oder c.729G>T
|
c.G729C oder c.G729T
|
L243F
|
|
c.730G>A
|
c.G730A
|
D244N
|
|
c.730G>C
|
c.G730C
|
D244H
|
|
c.730G>T
|
c.G730T
|
D244Y
|
|
c.731A>C
|
c.A731C
|
D244A
|
|
c.731A>G
|
c.A731G
|
D244G
|
|
c.731A>T
|
c.A731T
|
D244V
|
|
c.732C>G
|
c.C732G
|
D244E
|
|
c.733T>G
|
c.T733G
|
W245G
|
|
c.735G>C
|
c.G735C
|
W245C
|
|
c.736A>G
|
c.A736G
|
T246A
|
|
c.737C>A
|
c.C737A
|
T246K
|
|
c.737C>G
|
c.C737G
|
T246R
|
|
c.737C>T
|
c.C737T
|
T246I
|
|
c.739T>A
|
c.T739A
|
S247T
|
|
c.739T>G
|
c.T739G
|
S247A
|
|
c.740C>A
|
c.C740A
|
S247Y
|
|
c.740C>G
|
c.C740G
|
S247C
|
|
c.740C>T
|
c.C740T
|
S247F
|
|
c.742T>G
|
c.T742G
|
F248V
|
|
c.743T>A
|
c.T743A
|
F248Y
|
|
c.743T>G
|
c.T743G
|
F248C
|
|
c.744T>A
|
c.T744A
|
F248L
|
|
c.745A>C
|
c.A745C
|
N249H
|
|
c.745A>G
|
c.A745G
|
N249D
|
|
c.745A>T
|
c.A745T
|
N249Y
|
|
c.746A>C
|
c.A746C
|
N249T
|
|
c.746A>G
|
c.A746G
|
N249S
|
|
c.746A>T
|
c.A746T
|
N249I
|
|
c.747C>G oder c.747C>A
|
c.C747G oder c.C747A
|
N249K
|
|
c.748C>A
|
c.C748A
|
Q250K
|
|
c.748C>G
|
c.C748G
|
Q250E
|
|
c.749A>C
|
c.A749C
|
Q250P
|
|
c.749A>G
|
c.A749G
|
Q250R
|
|
c.749A>T
|
c.A749T
|
Q250L
|
|
c.750G>C
|
c.G750C
|
Q250H
|
|
c.751G>A
|
c.G751A
|
E251K
|
|
c.751G>C
|
c.G751C
|
E251Q
|
|
c.752A>G
|
c.A752G
|
E251G
|
|
c.752A>T
|
c.A752T
|
E251V
|
|
c.754A>G
|
c.A754G
|
R252G
|
|
c.757A>G
|
c.A757G
|
I253V
|
|
c.757A>T
|
c.A757T
|
I253F
|
|
c.758T>A
|
c.T758A
|
I253N
|
|
c.758T>C
|
c.T758C
|
I253T
|
|
c.758T>G
|
c.T758G
|
I253S
|
|
c.760-762delGTT oder c.761-763del
|
c.760_762delGTT oder c.761_763del
|
p.V254del
|
|
c.760G>T
|
c.G760T
|
V254F
|
|
c.761T>A
|
c.T761A
|
V254D
|
|
c.761T>C
|
c.T761C
|
V254A
|
|
c.761T>G
|
c.T761G
|
V254G
|
|
c.763G>A
|
c.G763A
|
D255N
|
|
c.763G>C
|
c.G763C
|
D255H
|
|
c.763G>T
|
c.G763T
|
D255Y
|
|
c.764A>C
|
c.A764C
|
D255A
|
|
c.764A>T
|
c.A764T
|
D255V
|
|
c.765T>A
|
c.T765A
|
D255E
|
|
c.766G>C
|
c.G766C
|
V256L
|
|
c.767T>A
|
c.T767A
|
V256D
|
|
c.767T>G
|
c.T767G
|
V256G
|
|
c.769G>A
|
c.G769A
|
A257T
|
|
c.769G>C
|
c.G769C
|
A257P
|
|
c.769G>T
|
c.G769T
|
A257S
|
|
c.770C>G
|
c.C770G
|
A257G
|
|
c.770C>T
|
c.C770T
|
A257V
|
|
c.772G>C oder c.772G>A
|
c.G772C oder c.G772A
|
G258R
|
|
c.773G>A
|
c.G773A
|
G258E
|
|
c.773G>T
|
c.G773T
|
G258V
|
|
c.775C>A
|
c.C775A
|
P259T
|
|
c.775C>G
|
c.C775G
|
P259A
|
|
c.775C>T
|
c.C775T
|
P259S
|
|
c.776C>A
|
c.C776A
|
P259Q
|
|
c.776C>G
|
c.C776G
|
P259R
|
|
c.776C>T
|
c.C776T
|
P259L
|
|
c.778G>T
|
c.G778T
|
G260W
|
|
c.779G>A
|
c.G779A
|
G260E
|
|
c.779G>C
|
c.G779C
|
G260A
|
|
c.781G>A
|
c.G781A
|
G261S
|
|
c.781G>C
|
c.G781C
|
G261R
|
|
c.781G>T
|
c.G781T
|
G261C
|
|
c.782G>C
|
c.G782C
|
G261A
|
|
c.787A>C
|
c.A787C
|
N263H
|
|
c.788A>C
|
c.A788C
|
N263T
|
|
c.788A>G
|
c.A788G
|
N263S
|
|
c.790G>A
|
c.G790A
|
D264N
|
|
c.790G>C
|
c.G790C
|
D264H
|
|
c.790G>T
|
c.G790T
|
D264Y
|
|
c.793C>G
|
c.C793G
|
P265A
|
|
c.794C>A
|
c.C794A
|
P265Q
|
|
c.794C>T
|
c.C794T
|
P265L
|
|
c.799A>G
|
c.A799G
|
M267V
|
|
c.799A>T
|
c.A799T
|
M267L
|
|
c.800T>C
|
c.T800C
|
M267T
|
|
c.802T>A
|
c.T802A
|
L268I
|
|
c.804A>T
|
c.A804T
|
L268F
|
|
c.805G>A
|
c.G805A
|
V269M
|
|
c.805G>C
|
c.G805C
|
V269L
|
|
c.806T>C
|
c.T806C
|
V269A
|
|
c.808A>C
|
c.A808C
|
I270L
|
|
c.808A>G
|
c.A808G
|
I270V
|
|
c.809T>C
|
c.T809C
|
I270T
|
|
c.809T>G
|
c.T809G
|
I270S
|
|
c.810T>G
|
c.T810G
|
I270M
|
|
c.811G>A
|
c.G811A
|
G271S
|
|
c.[811G>A; 937G>T]
|
c.G811A/G937T
|
G271S/D313Y
|
|
c.812G>A
|
c.G812A
|
G271D
|
|
c.812G>C
|
c.G812C
|
G271A
|
|
c.814A>G
|
c.A814G
|
N272D
|
|
c.818T>A
|
c.T818A
|
F273Y
|
|
c.823C>A
|
c.C823A
|
L275I
|
|
c.823C>G
|
c.C823G
|
L275V
|
|
c.827G>A
|
c.G827A
|
S276N
|
|
c.827G>C
|
c.G827C
|
S276T
|
|
c.829T>G
|
c.T829G
|
W277G
|
|
c.830G>T
|
c.G830T
|
W277L
|
|
c.831G>T oder c.831G>C
|
c.G831T oder c.G831C
|
W277C
|
|
c.832A>T
|
c.A832T
|
N278Y
|
|
c.833A>T
|
c.A833T
|
N278I
|
|
c.835C>G
|
c.C835G
|
Q279E
|
|
c.838C>A
|
c.C838A
|
Q280K
|
|
c.839A>G
|
c.A839G
|
Q280R
|
|
c.839A>T
|
c.A839T
|
Q280L
|
|
c.840A>T oder c.840A>C
|
c.A840T oder c.A840C
|
Q280H
|
|
c.841G>C
|
c.G841C
|
V281L
|
|
c.842T>A
|
c.T842A
|
V281E
|
|
c.842T>C
|
c.T842C
|
V281A
|
|
c.842T>G
|
c.T842G
|
V281G
|
|
c.844A>G
|
c.A844G
|
T282A
|
|
c.844A>T
|
c.A844T
|
T282S
|
|
c.845C>T
|
c.C845T
|
T282I
|
|
c.847C>G
|
c.C847G
|
Q283E
|
|
c.848A>T
|
c.A848T
|
Q283L
|
|
c.849G>C
|
c.G849C
|
Q283H
|
|
c.850A>G
|
c.A850G
|
M284V
|
|
c.850A>T
|
c.A850T
|
M284L
|
|
c.851T>C
|
c.T851C
|
M284T
|
|
c.852G>C
|
c.G852C
|
M284I
|
|
c.853G>A
|
c.G853A
|
A285T
|
|
c.854C>G
|
c.C854G
|
A285G
|
|
c.854C>T
|
c.C854T
|
A285V
|
|
c.856C>G
|
c.C856G
|
L286V
|
|
c.856C>T
|
c.C856T
|
L286F
|
|
c.857T>A
|
c.T857A
|
L286H
|
|
c.860G>T
|
c.G860T
|
W287L
|
|
c.862G>C
|
c.G862C
|
A288P
|
|
c.862G>T
|
c.G862T
|
A288S
|
|
c.863C>G
|
c.C863G
|
A288G
|
|
c.863C>T
|
c.C863T
|
A288V
|
|
c.865A>C
|
c.A865C
|
I289L
|
|
c.865A>G
|
c.A865G
|
I289V
|
|
c.866T>C
|
c.T866C
|
I289T
|
|
c.866T>G
|
c.T866G
|
I289S
|
|
c.868A>C oder c.868A>T
|
c.A868C oder c.A868T
|
M290L
|
|
c.868A>G
|
c.A868G
|
M290V
|
|
c.869T>C
|
c.T869C
|
M290T
|
|
c.870G>A oder c.870G>C oder c.870G>T
|
c.G870A oder c.G870C oder c.G870T
|
M290I
|
|
c.871G>A
|
c.G871A
|
A291T
|
|
c.871G>T
|
c.G871T
|
A291S
|
|
c.872C>G
|
c.C872G
|
A291G
|
|
c.874G>T
|
c.G874T
|
A292S
|
|
c.875C>G
|
c.C875G
|
A292G
|
|
c.877C>A
|
c.C877A
|
P293T
|
|
c.880T>A
|
c.T880A
|
L294I
|
|
c.880T>G
|
c.T880G
|
L294V
|
|
c.881T>C
|
c.T881C
|
L294S
|
|
c.882A>T
|
c.A882T
|
L294F
|
|
c.883T>A
|
c.T883A
|
F295I
|
|
c.883T>G
|
c.T883G
|
F295V
|
|
c.884T>A
|
c.T884A
|
F295Y
|
|
c.884T>C
|
c.T884C
|
F295S
|
|
c.884T>G
|
c.T884G
|
F295C
|
|
c.886A>G
|
c.A886G
|
M296V
|
|
c.886A>T oder c.886A>C
|
c.A886T oder c.A886C
|
M296L
|
|
c.887T>C
|
c.T887C
|
M296T
|
|
c.888G>A oder c.888G>T oder c.888G>C
|
c.G888A oder c.G888T oder c.G888C
|
M296I
|
|
c.889T>A
|
c.T889A
|
S297T
|
|
c.892A>G
|
c.A892G
|
N298D
|
|
c.893A>C
|
c.A893C
|
N298T
|
|
c.893A>G
|
c.A893G
|
N298S
|
|
c.893A>T
|
c.A893T
|
N298I
|
|
c.895G>A
|
c.G895A
|
D299N
|
|
c.895G>C
|
c.G895C
|
D299H
|
|
c.897C>G oder c.897C>A
|
c.C897G oder c.C897A
|
D299E
|
|
c.898C>A
|
c.C898A
|
L300I
|
|
c.898C>G
|
c.C898G
|
L300V
|
|
c.898C>T
|
c.C898T
|
L300F
|
|
c.899T>C
|
c.T899C
|
L300P
|
|
c.901C>G
|
c.C901G
|
R301G
|
|
c.902G>A
|
c.G902A
|
R301Q
|
|
c.902G>C
|
c.G902C
|
R301P
|
|
c.902G>T
|
c.G902T
|
R301L
|
|
c.904C>A
|
c.C904A
|
H302N
|
|
c.904C>G
|
c.C904G
|
H302D
|
|
c.904C>T
|
c.C904T
|
H302Y
|
|
c.905A>T
|
c.A905T
|
H302L
|
|
c.907A>G
|
c.A907G
|
I303V
|
|
c.907A>T
|
c.A907T
|
I303F
|
|
c.908T>A
|
c.T908A
|
I303N
|
|
c.908T>C
|
c.T908C
|
I303T
|
|
c.908T>G
|
c.T908G
|
I303S
|
|
c.911G>A
|
c.G911A
|
S304N
|
|
c.911G>C
|
c.G911C
|
S304T
|
|
c.911G>T
|
c.G911T
|
S304I
|
|
c.916C>G
|
c.C916G
|
Q306E
|
|
c.917A>C
|
c.A917C
|
Q306P
|
|
c.917A>T
|
c.A917T
|
Q306L
|
|
c.919G>A
|
c.G919A
|
A307T
|
|
c.919G>C
|
c.G919C
|
A307P
|
|
c.919G>T
|
c.G919T
|
A307S
|
|
c.920C>A
|
c.C920A
|
A307D
|
|
c.920C>G
|
c.C920G
|
A307G
|
|
c.920C>T
|
c.C920T
|
A307V
|
|
c.922A>C
|
c.A922C
|
K308Q
|
|
c.922A>G
|
c.A922G
|
K308E
|
|
c.923A>G
|
c.A923G
|
K308R
|
|
c.923A>T
|
c.A923T
|
K308I
|
|
c.924A>T oder c.924A>C
|
c.A924T oder c.A924C
|
K308N
|
|
c.925G>A
|
c.G925A
|
A309T
|
|
c.925G>C
|
c.G925C
|
A309P
|
|
c.926C>A
|
c.C926A
|
A309D
|
|
c.926C>T
|
c.C926T
|
A309V
|
|
c.928C>A
|
c.C928A
|
L310I
|
|
c.928C>G
|
c.C928G
|
L310V
|
|
c.928C>T
|
c.C928T
|
L310F
|
|
c.931C>A
|
c.C931A
|
L311I
|
|
c.931C>G
|
c.C931G
|
L311V
|
|
c.934C>A
|
c.C934A
|
Q312K
|
|
c.934C>G
|
c.C934G
|
Q312E
|
|
c.935A>G
|
c.A935G
|
Q312R
|
|
c.935A>T
|
c.A935T
|
Q312L
|
|
c.936G>T oder c.936G>C
|
c.G936T oder c.G936C
|
Q312H
|
|
c.937G>T
|
c.G937T
|
D313Y
|
|
c.[937G>T; 1232G>A]
|
c.G937T/G1232A
|
D313Y/G411D
|
|
c.938A>G
|
c.A938G
|
D313G
|
|
c.938A>T
|
c.A938T
|
D313V
|
|
c.939T>A
|
c.T939A
|
D313E
|
|
c.940A>G
|
c.A940G
|
K314E
|
|
c.941A>C
|
c.A941C
|
K314T
|
|
c.941A>T
|
c.A941T
|
K314M
|
|
c.942G>C
|
c.G942C
|
K314N
|
|
c.943G>A
|
c.G943A
|
D315N
|
|
c.943G>C
|
c.G943C
|
D315H
|
|
c.943G>T
|
c.G943T
|
D315Y
|
|
c.944A>C
|
c.A944C
|
D315A
|
|
c.944A>G
|
c.A944G
|
D315G
|
|
c.944A>T
|
c.A944T
|
D315V
|
|
c.946G>A
|
c.G946A
|
V316I
|
|
c.946G>C
|
c.G946C
|
V316L
|
|
c.947T>C
|
c.T947C
|
V316A
|
|
c.947T>G
|
c.T947G
|
V316G
|
|
c.949A>C
|
c.A949C
|
I317L
|
|
c.949A>G
|
c.A949G
|
I317V
|
|
c.950T>C
|
c.T950C
|
I317T
|
|
c.951T>G
|
c.T951G
|
I317M
|
|
c.952G>A
|
c.G952A
|
A318T
|
|
c.952G>C
|
c.G952C
|
A318P
|
|
c.953C>A
|
c.C953A
|
A318D
|
|
c.953C>T
|
c.C953T
|
A318V
|
|
c.955A>T
|
c.A955T
|
I319F
|
|
c.956T>C
|
c.T956C
|
I319T
|
|
c.957C>G
|
c.C957G
|
I319M
|
|
c.958A>C
|
c.A958C
|
N320H
|
|
c.959A>C
|
c.A959C
|
N320T
|
|
c.959A>G
|
c.A959G
|
N320S
|
|
c.959A>T
|
c.A959T
|
N320I
|
|
c.961C>A
|
c.C961A
|
Q321K
|
|
c.962A>G
|
c.A962G
|
Q321R
|
|
c.962A>T
|
c.A962T
|
Q321L
|
|
c.963G>C oder c.963G>T
|
c.G963C oder c.G963T
|
Q321H
|
|
c.964G>A
|
c.G964A
|
D322N
|
|
c.964G>C
|
c.G964C
|
D322H
|
|
c.965A>C
|
c.A965C
|
D322A
|
|
c.965A>T
|
c.A965T
|
D322V
|
|
c.966C>A oder c.966C>G
|
c.C966A oder c.C966G
|
D322E
|
|
c.967C>A
|
c.C967A
|
P323T
|
|
c.968C>G
|
c.C968G
|
P323R
|
|
c.970T>G
|
c.T970G
|
L324V
|
|
c.971T>G
|
c.T971G
|
L324W
|
|
c.973G>A
|
c.G973A
|
G325S
|
|
c.973G>C
|
c.G973C
|
G325R
|
|
c.973G>T
|
c.G973T
|
G325C
|
|
c.974G>C
|
c.G974C
|
G325A
|
|
c.974G>T
|
c.G974T
|
G325V
|
|
c.976A>C
|
c.A976C
|
K326Q
|
|
c.976A>G
|
c.A976G
|
K326E
|
|
c.977A>C
|
c.A977C
|
K326T
|
|
c.977A>G
|
c.A977G
|
K326R
|
|
c.977A>T
|
c.A977T
|
K326M
|
|
c.978G>C oder c.978G>T
|
c.G978C oder c.G978T
|
K326N
|
|
c.979C>G
|
c.C979G
|
Q327E
|
|
c.980A>C
|
c.A980C
|
Q327P
|
|
c.980A>T
|
c.A980T
|
Q327L
|
|
c.981A>T
|
c.A981T
|
Q327H
|
|
c.983G>C
|
c.G983C
|
G328A
|
|
c.985T>A
|
c.T985A
|
Y329N
|
|
c.985T>C
|
c.T985C
|
Y329H
|
|
c.985T>G
|
c.T985G
|
Y329D
|
|
c.986A>G
|
c.A986G
|
Y329C
|
|
c.986A>T
|
c.A986T
|
Y329F
|
|
c.988C>A
|
c.C988A
|
Q330K
|
|
c.988C>G
|
c.C988G
|
Q330E
|
|
c.989A>C
|
c.A989C
|
Q330P
|
|
c.989A>G
|
c.A989G
|
Q330R
|
|
c.990G>C
|
c.G990C
|
Q330H
|
|
c.991C>G
|
c.C991G
|
L331V
|
|
c.992T>A
|
c.T992A
|
L331H
|
|
c.992T>C
|
c.T992C
|
L331P
|
|
c.992T>G
|
c.T992G
|
L331R
|
|
c.994A>G
|
c.A994G
|
R332G
|
|
c.995G>C
|
c.G995C
|
R332T
|
|
c.995G>T
|
c.G995T
|
R332I
|
|
c.996A>T
|
c.A996T
|
R332S
|
|
c.997C>G
|
c.C997G
|
Q333E
|
|
c.998A>C
|
c.A998C
|
Q333P
|
|
c.998A>T
|
c.A998T
|
Q333L
|
|
c.1000G>C
|
c.G1000C
|
G334R
|
|
c.1001G>A
|
c.G1001A
|
G334E
|
|
c.1001G>T
|
c.G1001T
|
G334V
|
|
c.1003G>T
|
c.G1003T
|
D335Y
|
|
c.1004A>C
|
c.A1004C
|
D335A
|
|
c.1004A>G
|
c.A1004G
|
D335G
|
|
c.1004A>T
|
c.A1004T
|
D335V
|
|
c.1005C>G
|
c.C1005G
|
D335E
|
|
c.1006A>G
|
c.A1006G
|
N336D
|
|
c.1006A>T
|
c.A1006T
|
N336Y
|
|
c.1007A>C
|
c.A1007C
|
N336T
|
|
c.1007A>G
|
c.A1007G
|
N336S
|
|
c.1007A>T
|
c.A1007T
|
N336I
|
|
c.1009T>G
|
c.T1009G
|
F337V
|
|
c.1010T>A
|
c.T1010A
|
F337Y
|
|
c.1010T>C
|
c.T1010C
|
F337S
|
|
c.1010T>G
|
c.T1010G
|
F337C
|
|
c.1011T>A
|
c.T1011A
|
F337L
|
|
c.1012G>A
|
c.G1012A
|
E338K
|
|
c.1013A>C
|
c.A1013C
|
E338A
|
|
c.1013A>G
|
c.A1013G
|
E338G
|
|
c.1013A>T
|
c.A1013T
|
E338V
|
|
c.1014A>T
|
c.A1014T
|
E338D
|
|
c.1015G>A
|
c.G1015A
|
V339M
|
|
c.1016T>A
|
c.T1016A
|
V339E
|
|
c.1016T>C
|
c.T1016C
|
V339A
|
|
c.1021G>C
|
c.G1021C
|
E341Q
|
|
c.1022A>C
|
c.A1022C
|
E341A
|
|
c.1027C>A
|
c.C1027A
|
P343T
|
|
c.1027C>G
|
c.C1027G
|
P343A
|
|
c.1027C>T
|
c.C1027T
|
P343S
|
|
c.1028C>T
|
c.C1028T
|
P343L
|
|
c.1030C>G
|
c.C1030G
|
L344V
|
|
c.1030C>T
|
c.C1030T
|
L344F
|
|
c.1031T>G
|
c.T1031G
|
L344R
|
|
c.1033T>C
|
c.T1033C
|
S345P
|
|
c.1036G>T
|
c.G1036T
|
G346C
|
|
c.1037G>A
|
c.G1037A
|
G346D
|
|
c.1037G>C
|
c.G1037C
|
G346A
|
|
c.1037G>T
|
c.G1037T
|
G346V
|
|
c.1039T>A
|
c.T1039A
|
L347I
|
|
c.1043C>A
|
c.C1043A
|
A348D
|
|
c.1046G>C
|
c.G1046C
|
W349S
|
|
c.1046G>T
|
c.G1046T
|
W349L
|
|
c.1047G>C
|
c.G1047C
|
W349C
|
|
c.1048G>A
|
c.G1048A
|
A350T
|
|
c.1048G>T
|
c.G1048T
|
A350S
|
|
c.1049C>G
|
c.C1049G
|
A350G
|
|
c.1049C>T
|
c.C1049T
|
A350V
|
|
c.1052T>A
|
c.T1052A
|
V351E
|
|
c.1052T>C
|
c.T1052C
|
V351A
|
|
c.1054G>A
|
c.G1054A
|
A352T
|
|
c.1054G>T
|
c.G1054T
|
A352S
|
|
c.1055C>G
|
c.C1055G
|
A352G
|
|
c.1055C>T
|
c.C1055T
|
A352V
|
|
c.1057A>T
|
c.A1057T
|
M353L
|
|
c.1058T>A
|
c.T1058A
|
M353K
|
|
c.1058T>C
|
c.T1058C
|
M353T
|
|
c.1061T>A
|
c.T1061A
|
I354K
|
|
c.1061T>G
|
c.T1061G
|
I354R
|
|
c.1063A>C
|
c.A1063C
|
N355H
|
|
c.1063A>G
|
c.A1063G
|
N355D
|
|
c.1063A>T
|
c.A1063T
|
N355Y
|
|
c.1064A>G
|
c.A1064G
|
N355S
|
|
c.1066C>G
|
c.C1066G
|
R356G
|
|
c.1066C>T
|
c.C1066T
|
R356W
|
|
c.1067G>A
|
c.G1067A
|
R356Q
|
|
c.1067G>C
|
c.G1067C
|
R356P
|
|
c.1067G>T
|
c.G1067T
|
R356L
|
|
c.1069C>G
|
c.C1069G
|
Q357E
|
|
c.1072G>C
|
c.G1072C
|
E358Q
|
|
c.1073A>C
|
c.A1073C
|
E358A
|
|
c.1073A>G
|
c.A1073G
|
E358G
|
|
c.1074G>T oder c.1074G>C
|
c.G1074T oder c.G1074C
|
E358D
|
|
c.1075A>C
|
c.A1075C
|
I359L
|
|
c.1075A>G
|
c.A1075G
|
I359V
|
|
c.1075A>T
|
c.A1075T
|
I359F
|
|
c.1076T>A
|
c.T1076A
|
I359N
|
|
c.1076T>C
|
c.T1076C
|
I359T
|
|
c.1076T>G
|
c.T1076G
|
I359S
|
|
c.1078G>A
|
c.G1078A
|
G360S
|
|
c.1078G>C
|
c.G1078C
|
G360R
|
|
c.1078G>T
|
c.G1078T
|
G360C
|
|
c.1079G>A
|
c.G1079A
|
G360D
|
|
c.1079G>C
|
c.G1079C
|
G360A
|
|
c.1082G>A
|
c.G1082A
|
G361E
|
|
c.1082G>C
|
c.G1082C
|
G361A
|
|
c.1084C>A
|
c.C1084A
|
P362T
|
|
c.1084C>G
|
c.C1084G
|
P362A
|
|
c.1084C>T
|
c.C1084T
|
P362S
|
|
c.1085C>A
|
c.C1085A
|
P362H
|
|
c.1085C>G
|
c.C1085G
|
P362R
|
|
c.1085C>T
|
c.C1085T
|
P362L
|
|
c.1087C>A
|
c.C1087A
|
R363S
|
|
c.1087C>G
|
c.C1087G
|
R363G
|
|
c.1087C>T
|
c.C1087T
|
R363C
|
|
c.1088G>A
|
c.G1088A
|
R363H
|
|
c.1088G>T
|
c.G1088T
|
R363L
|
|
c.1090T>C
|
c.T1090C
|
S364P
|
|
c.1091C>G
|
c.C1091G
|
S364C
|
|
c.1093T>A
|
c.T1093A
|
Y365N
|
|
c.1093T>G
|
c.T1093G
|
Y365D
|
|
c.1094A>C
|
c.A1094C
|
Y365S
|
|
c.1094A>T
|
c.A1094T
|
Y365F
|
|
c.1096A>C
|
c.A1096C
|
T366P
|
|
c.1096A>T
|
c.A1096T
|
T366S
|
|
c.1097C>A
|
c.C1097A
|
T366N
|
|
c.1097C>T
|
c.C1097T
|
T366I
|
|
c.1099A>C
|
c.A1099C
|
I367L
|
|
c.1099A>T
|
c.A1099T
|
I367F
|
|
c.1101C>G
|
c.C1101G
|
I367M
|
|
c.1102G>A
|
c.G1102A
|
A368T
|
|
c.1102G>C
|
c.G1102C
|
A368P
|
|
c.1103C>G
|
c.C1103G
|
A368G
|
|
c.1105G>A
|
c.G1105A
|
V369I
|
|
c.1105G>C
|
c.G1105C
|
V369L
|
|
c.1105G>T
|
c.G1105T
|
V369F
|
|
c.1106T>C
|
c.T1106C
|
V369A
|
|
c.1106T>G
|
c.T1106G
|
V369G
|
|
c.1108G>A
|
c.G1108A
|
A370T
|
|
c.1108G>C
|
c.G1108C
|
A370P
|
|
c.1109C>A
|
c.C1109A
|
A370D
|
|
c.1109C>G
|
c.C1109G
|
A370G
|
|
c.1109C>T
|
c.C1109T
|
A370V
|
|
c.1111T>A
|
c.T1111A
|
S371T
|
|
c.1112C>G
|
c.C1112G
|
S371C
|
|
c.1117G>A
|
c.G1117A
|
G373S
|
|
c.1117G>T
|
c.G1117T
|
G373C
|
|
c.1118G>C
|
c.G1118C
|
G373A
|
|
c.1120A>G
|
c.A1120G
|
K374E
|
|
c.1121A>C
|
c.A1121C
|
K374T
|
|
c.1121A>G
|
c.A1121G
|
K374R
|
|
c.1121A>T
|
c.A1121T
|
K374I
|
|
c.1123G>C
|
c.G1123C
|
G375R
|
|
c.1124G>A
|
c.G1124A
|
G375E
|
|
c.1124G>C
|
c.G1124C
|
G375A
|
|
c.1126G>A
|
c.G1126A
|
V376M
|
|
c.1126G>C
|
c.G1126C
|
V376L
|
|
c.1127T>A
|
c.T1127A
|
V376E
|
|
c.1127T>G
|
c.T1127G
|
V376G
|
|
c.1129G>A
|
c.G1129A
|
A377T
|
|
c.1129G>C
|
c.G1129C
|
A377P
|
|
c.1129G>T
|
c.G1129T
|
A377S
|
|
c.1130C>G
|
c.C1130G
|
A377G
|
|
c.1135A>G
|
c.A1135G
|
N379D
|
|
c.1136A>C
|
c.A1136C
|
N379T
|
|
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|
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