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| Cosmetique Active (Suisse) SA - Ipro sur Galafold |
| Information professionnelle sur Galafold: | Amicus Therapeutics Switzerland GmbH |
Mise à jour de l’informationMai 2025 Tableau 1: Mutations sensibles à
Galafold (migalastat)
Modification d’un nucléotide Modification d’un Modification de la séquence
nucléotide d’une protéine
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 ou c.70T>A c.T70C ou c.T70A W24R
c.70T>G c.T70G W24G
c.71G>C c.G71C W24S
c.72G>C ou c.72G>T c.G72C ou 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 ou c.102T>A c.T102G ou c.T102A N34K
c.103G>C ou c.103G>A c.G103C ou 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 ou c.108G>T c.G108C ou 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 ou c.124A>T c.A124C ou 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 ou c.126G>C ou c.126G>T c.G126A ou c.G126C ou M42I
c.G126T
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 ou c.153G>T ou c.153G>C c.G153A ou c.G153T ou M51I
c.G153C
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 ou c.159C>A c.C159G ou 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 ou c.207C>G c.C207A ou 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 ou c.216G>T ou c.216G>C c.G216A ou c.G216T ou M72I
c.G216C
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 ou c.261G>T c.G261C ou 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 ou c.288G>T ou c.288G>C c.G288A ou c.G288T ou M96I
c.G288C
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 ou c.339T>A ou c.339T>G c.T337C ou c.T339A ou F113L
c.T339G
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 ou c.408T>G c.T408A ou 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 ou c.465T>G c.T465A ou 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 ou c.471G>T c.G471C ou 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 ou c.525C>A c.C525G ou 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 ou c.540G>T c.G540C ou 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 ou c.561G>A ou c.561G>C c.G561T ou c.G561A ou M187I
c.G561C
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 ou c.567G>T c.G567C ou 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.[578G>T; 936G>C] c.G578T/G936C R193M/Q312H
c.580A>C c.A580C T194P
c.580A>G c.A580G T194A
c.580A>T ou c.581C>G c.A580T ou 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.[602C>T; 937G>T] c.C602T/G937T S201F/D313Y
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 ou c.609G>T c.G609C ou 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 ou c.687T>G c.T687A ou 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 ou c.720G>T c.G720C ou 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 ou c.729G>T c.G729C ou 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 ou c.747C>A c.C747G ou 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 ou c.761-763del c.760_762delGTT ou p.V254del
c.761_763del
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 ou c.772G>A c.G772C ou 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 ou c.831G>C c.G831T ou 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 ou c.840A>C c.A840T ou 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 ou c.868A>T c.A868C ou c.A868T M290L
c.868A>G c.A868G M290V
c.869T>C c.T869C M290T
c.870G>A ou c.870G>C ou c.870G>T c.G870A ou c.G870C ou M290I
c.G870T
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 ou c.886A>C c.A886T ou c.A886C M296L
c.887T>C c.T887C M296T
c.888G>A ou c.888G>T ou c.888G>C c.G888A ou c.G888T ou M296I
c.G888C
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
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