• -Si une double mutation est présente sur le même chromosome (chez les hommes et les femmes), le patient est considéré comme sensible si la double mutation est répertoriée dans le tableau 1 (par ex. D55V/Q57L). Si une double mutation est présente sur différents chromosomes (seulement chez les femmes), le patient est considéré comme sensible si l’une des deux mutations est répertoriée dans le tableau 1 (voir l'annexe).
• +Les modifications des nucléotides listées représentent des modifications potentielles de la séquence d'ADN qui ont pour conséquence la mutation de l'acide aminé. La mutation de l'acide aminé (modification de la séquence de la protéine) est pertinente pour déterminer la sensibilité à Galafold. Si une double mutation est présente sur le même chromosome (chez les hommes et les femmes), le patient est considéré comme sensible si la double mutation est répertoriée dans le tableau 1 (par ex. D55V/Q57L). Si une double mutation est présente sur différents chromosomes (seulement chez les femmes), le patient est considéré comme sensible si l’une des deux mutations est répertoriée dans le tableau 1 (voir l'annexe).
• -Avril 2017
• -Annexes
• +Mai 2017
• +Annexe
• -Modification d'un nucléotide Modification d'un nucléotide Modification de la séquence d'une protéine
• -c.8 T>C c.T8C L3P
• -c.37 G>A c.G37A A13T
• -c.37 G>C c.G37C A13P
• -c.43 G>A c.G43A A15T
• -c.44 C>G c.C44G A15G
• -c.58 G>C c.G58C A20P
• -c.59 C>A c.C59A A20D
• -c.70 T>C c.T70C W24R
• -c.70 T>G c.T70G W24G
• -c.72 G>C c.G72C W24C
• -c.95 T>C c.T95C L32P
• -c.97 G>T c.G97T D33Y
• -c.98 A>G c.A98G D33G
• -c.101 A>G c.A101G N34S
• -c.102 T>G c.T102G N34K
• -c.103 G>C c.G103C G35R
• -c.107 T>C c.T107C L36S
• -c.107 T>G c.T107G L36W
• -c.108 G>C c.G108C L36F
• -c.109 G>A c.G109A A37T
• -c.110 C>T c.C110T A37V
• -c.122 C>T c.C122T T41I
• -c.124 A>C c.A124C M42L
• -c.124 A>G c.A124G M42V
• -c.125 T>A c.T125A M42K
• -c.125 T>C c.T125C M42T
• -c.125 T>G c.T125G M42R
• -c.137 A>C c.A137C H46P
• -c.142 G>C c.G142C E48Q
• -c.152 T>A c.T152A M51K
• -c.153 G>A c.G153A M51I
• -c.157 A>G c.A157G N53D
• -c.[157 A>C; 158 A>T] c. A157C/A158T N53L
• -c.160 C>T c.C160T L54F
• -c.161 T>C c.T161C L54P
• -c.164 A>T c.A164T D55V
• -c.[164 A>T; 170 A>T] c.A164T/A170T D55V/Q57L
• -c.167 G>T c.G167T C56F
• -c.167 G>A c.G167A C56Y
• -c.170 A>T c.A170T Q57L
• -c.175 G>A c.G175A E59K
• -c.178 C>A c.C178A P60T
• -c.178 C>T c.C178T P60S
• -c.179 C>T c.C179T P60L
• -c.196 G>A c.G196A E66K
• -c.197 A>G c.A197G E66G
• -c.214 A>G c.A214G M72V
• -c.216 G>A c.G216A M72I
• -c.218 C>T c.C218T A73V
• -c.227 T>C c.T227C M76T
• -c.247 G>A c.G247A D83N
• -c.253 G>A c.G253A G85S
• -c.254 G>A c.G254A G85D
• -c.[253 G>A; 254 G>T; 255 T>G] c. G253A/G254T/T255G G85M
• -c.265 C>T c.C265T L89F
• -c.272 T>C c.T272C I91T
• -c.288 G>A c.G288A M96I
• -c.289 G>C c.G289C A97P
• -c.290 C>T c.C290T A97V
• -c.305 C>T c.C305T S102L
• +Modification d’un nucléotide Modification d’un nucléotide Modification de la séquence 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.37G>A c.G37A A13T
• +c.37G>C c.G37C A13P
• +c.43G>A c.G43A A15T
• +c.44C>G c.C44G A15G
• +c.53T>G c.T53G F18C
• +c.58G>C c.G58C A20P
• +c.59C>A c.C59A A20D
• +c.70T>C ou c.70T>A c.T70C ou c.T70A W24R
• +c.70T>G c.T70G W24G
• +c.72G>C ou c.72G>T c.G72C ou c.G72T W24C
• +c.95T>C c.T95C L32P
• +c.97G>T c.G97T D33Y
• +c.98A>G c.A98G D33G
• +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>T c.G104T G35V
• +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.110C>T c.C110T A37V
• +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 c.G126T M42I
• +c.137A>C c.A137C H46P
• +c.142G>C c.G142C E48Q
• +c.152T>A c.T152A M51K
• +c.153G>A ou c.153G>T ou c.153G>C c.G153A ou c.G153T ou c.G153C M51I
• +c.157A>G c.A157G N53D
• +c.[157A>C; 158A>T] c.A157C/A158T N53L
• +c.160C>T c.C160T L54F
• +c.161T>C c.T161C L54P
• +c.164A>T c.A164T D55V
• +c.[164A>T; 170A>T] c.A164T/A170T D55V/Q57L
• +c.167G>T c.G167T C56F
• +c.167G>A c.G167A C56Y
• +c.170A>T c.A170T Q57L
• +c.175G>A c.G175A E59K
• +c.178C>A c.C178A P60T
• +c.178C>T c.C178T P60S
• +c.179C>T c.C179T P60L
• +c.196G>A c.G196A E66K
• +c.197A>G c.A197G E66G
• +c.207C>A ou c.207C>G c.C207A ou c.C207G F69L
• +c.214A>G c.A214G M72V
• +c.216G>A ou c.216G>T ou c.216G>C c.G216A ou c.G216T ou c.G216C M72I
• +c.218C>T c.C218T A73V
• +c.227T>C c.T227C M76T
• +c.239G>A c.G239A G80D
• +c.247G>A c.G247A D83N
• +c.253G>A c.G253A G85S
• +c.254G>A c.G254A G85D
• +c.[253G>A; 254G>A] c.G253A/G254A G85N
• +c.[253G>A; 254G>T; 255T>G] c. G253A/G254T/T255G G85M
• +c.261G>C ou c.261G>T c.G261C ou c.G261T E87D
• +c.265C>T c.C265T L89F
• +c.272T>C c.T272C I91T
• +c.288G>A ou c.288G>T ou c.288G>C c.G288A ou c.G288T ou c.G288C M96I
• +c.289G>C c.G289C A97P
• +c.290C>T c.C290T A97V
• +c.305C>T c.C305T S102L
• -c.322 G>A c.G322A A108T
• -c.326 A>G c.A326G D109G
• -c.334 C>G c.C334G R112G
• -c.335 G>A c.G335A R112H
• -c.337 T>C c.T337C F113L
• -c.352 C>T c.C352T R118C
• -c.361 G>A c.G361A A121T
• -c.368 A>G c.A368G Y123C
• -c. 374 A>T c.A374T H125L
• -c.376 A>G c.A376G S126G
• -c.383 G>A c.G383A G128E
• -c.404 C>T c.C404T A135V
• -c.408 T>A c.T408A D136E
• -c.416 A>G c.A416G N139S
• -c.419 A>C c.A419C K140T
• -c.427 G>A c.G427A A143T
• -c.431 G>A c.G431A G144D
• -c.431 G>T c.G431T G144V
• -c.436 C>T c.C436T P146S
• -c.455 A>G c.A455G Y152C
• -c.466 G>A c.G466A A156T
• -c.467 C>T c.C467T A156V
• -c.484 T>G c.T484G W162G
• -c.493 G>C c.G493C D165H
• -c.494 A>G c.A494G D165G
• -c.[496 C>G; 497 T>G] c. C496G/T497G L166G
• -c.496 C>G c.C496G L166V
• -c.506 T>C c.T506C F169S
• -c.520 T>C c.T520C C174R
• -c.520 T>G c.T520G C174G
• -c.525 C>G c.C525G D175E
• -c.548 G>C c.G548C G183A
• -c.548 G>A c.G548A G183D
• -c.550 T>A c.T550A Y184N
• +c.316C>T c.C316T L106F
• +c.322G>A c.G322A A108T
• +c.326A>G c.A326G D109G
• +c.334C>G c.C334G R112G
• +c.335G>A c.G335A R112H
• +c.337T>C ou c.339T>A ou c.339T>G c.T337C ou c.T339A ou c.T339G F113L
• +c.352C>T c.C352T R118C
• +c.361G>A c.G361A A121T
• +c.368A>G c.A368G Y123C
• +c.374A>T c.A374T H125L
• +c.376A>G c.A376G S126G
• +c.383G>A c.G383A G128E
• +c.399T>G c.T399G I133M
• +c.404C>T c.C404T A135V
• +c.408T>A ou c.408T>G c.T408A ou c.T408G D136E
• +c.416A>G c.A416G N139S
• +c.419A>C c.A419C K140T
• +c.427G>A c.G427A A143T
• +c.431G>A c.G431A G144D
• +c.431G>T c.G431T G144V
• +c.434T>C c.T434C F145S
• +c.436C>T c.C436T P146S
• +c.437C>G c.C437G P146R
• +c.454T>C c.T454C Y152H
• +c.455A>G c.A455G Y152C
• +c.466G>A c.G466A A156T
• +c.467C>T c.C467T A156V
• +c.484T>G c.T484G W162G
• +c.493G>C c.G493C D165H
• +c.494A>G c.A494G D165G
• +c.[496C>G; 497T>G] c.C496G/T497G L166G
• +c.496C>G c.C496G L166V
• +c.499C>G c.C499G L167V
• +c.506T>C c.T506C F169S
• +c.520T>C c.T520C C174R
• +c.520T>G c.T520G C174G
• +c.525C>G ou c.525C>A c.C525G ou c.C525A D175E
• +c.539T>G c.T539G L180W
• +c.540G>C c.G540C L180F
• +c.548G>C c.G548C G183A
• +c.548G>A c.G548A G183D
• +c.550T>A c.T550A Y184N
• -c.553 A>G c.A553G K185E
• -c.559 A>G c.A559G M187V
• -c.560 T>C c.T560C M187T
• -c.561 G>T c.G561T M187I
• -c.559_564 dup c.559_564dup p. M187_S188 dup
• -c.572 T>A c.T572A L191Q
• -c.581 C>T c.C581T T194I
• -c.584 G>T c.G584T G195V
• -c.593 T>C c.T593C I198T
• -c.595 G>A c.G595A V199M
• -c.596 T>G c.T596G V199G
• -c.599 A>G c.A599G Y200C
• -c.602 C>T c.C602T S201F
• -c.602 C>A c.C602A S201Y
• -c.608 A>T c.A608T E203V
• -c.609 G>C c.G609C E203D
• -c.613 C>A c.C613A P205T
• -c.613 C>T c.C613T P205S
• -c.614 C>T c.C614T P205L
• -c.619 T>C c.T619C Y207H
• -c.620 A>C c.A620C Y207S
• -c.628 C>T c.C628T P210S
• -c.629 C>T c.C629T P210L
• -c.638 A>T c.A638T K213M
• -c.640 C>T c.C640T P214S
• -c.641 C>T c.641T P214L
• -c.643 A>G c.A643G N215D
• -c.644 A>G c.A644G N215S
• -c.[644 A>G; 937 G>T] c. A644G/G937T N215S/D313Y
• -c.646 T>G c.T646G Y216D
• -c.647 A>G c.A647G Y216C
• -c.656 T>A c.T656A I219N
• -c.656 T>C c.T656C I219T
• -c.659 G>A c.G659A R220Q
• -c.659 G>C c.G659C R220P
• -c.671 A>G c.A671G N224S
• -c.673 C>G c.C673G H225D
• -c.683 A>G c.A683G N228S
• -c.687 T>A c.T687A F229L
• -c.695 T>C c.T695C I232T
• -c.713 G>A c.G713A S238N
• -c.716 T>C c.T716C I239T
• -c.724 A>T c.A724T I242F
• -c.725 T>A c.T725A I242N
• -c.729 G>C c.G729C L243F
• -c.728 T>G c.T728G L243W
• -c.730 G>A c.G730A D244N
• -c.730 G>C c.G730C D244H
• -c.735 T>G c.T735G W245G
• -c.740 C>G c.C740G S247C
• -c.747 C>G c.C747G N249K
• -c.749 A>C c.A749C Q250P
• -c.758 T>C c.T758C I253T
• -c.758 T>G c.T758G I253S
• -c.760-762del GTT c.760_762delGTT p.V254del
• -c.769 G>C c.G769C A257P
• -c.770 C>G c.C770G A257G
• -c.772 G>C c.G772C G258R
• -c.773 G>T c.G773T G258V
• -c.776 C>G c.C776G P259R
• -c.776 C>T c.C776T P259L
• -c.779 G>A c.G779A G260E
• -c.779 G>C c.G779C G260A
• -c.788 A>G c.A788G N263S
• -c.790 G>T c.G790T D264Y
• -c.794 C>T c.C794T P265L
• -c.800 T>C c.T800C M267T
• -c.805 G>A c.G805A V269M
• -c.806 T>C c.T806C V269A
• -c.809 T>C c.T809C I270T
• -c.811 G>A c.G811A G271S
• -c.[811 G>A; 937 G>T] c. G811A/G937T G271S/D313Y
• -c.812 G>A c. G812A G271D
• -c.827 G>A c.G827A S276N
• -c.829 T>G c.T829G W277G
• -c.831 G>T c.G831T W277C
• -c.835 C>G c.C835G Q279E
• -c.838 C>A c.C838A Q280K
• -c.840 A>T c.A840T Q280H
• -c.844 A>G c.A844G T282A
• -c.845 C>T c.C845T T282I
• -c.850 A>G c.A850G M284V
• -c.851 T>C c.T851C M284T
• -c.862 G>C c.G862C A288P
• -c.866 T>G c.T866G I289S
• -c.868 A>C c.A868C M290L
• -c.870 G>A c.G870A M290I
• -c.871 G>A c.G871A A291T
• -c.877 C>A c.C877A P293T
• -c.881 T>C c.T881C L294S
• -c.884 T>G c.T884G F295C
• -c.886 A>G c.A886G M296V
• -c.886 A>T c.A886T M296L
• -c.887 T>C c.T887C M296T
• -c.888 G>A c.G888A M296I
• -c.893 A>G c.A893G N298S
• -c.897 C>G c.C897G D299E
• -c.898 C>T c.C898T L300F
• -c.899 T>C c.T899C L300P
• -c.901 C>G c.C901G R301G
• -c.902 G>C c.G902C R301P
• -c.902 G>A c.G902A R301Q
• -c.902 G>T c.G902T R301L
• -c.908 T>A c.T908A I303N
• -c.911 G>A c.G911A S304N
• -c.911 G>C c.G911C S304T
• -c.919 G>A c.G919A A307T
• -c.924 A>T c.A924T K308N
• -c.925 G>C c.G925C A309P
• -c.928 C>T c.C928T L310F
• -c.931 C>G c.C931G L311V
• -c.935 A>G c.A935G Q312R
• -c.936 G>T c.G936T Q312H
• -c.937 G>T c.G937T D313Y
• -c.938 A>G c.A938G D313G
• -c.946 G>A c.G946A V316I
• -c.947 T>G c.T947G V316G
• -c.950 T>C c.T950C I317T
• -c.955 A>T c.A955T I319F
• -c.956 T>C c.T956C I319T
• -c.959 A>T c.A959T N320I
• -c.962 A>G c.A962G Q321R
• -c.962 A>T c.A962T Q321L
• -c.963 G>C c.G963C Q321H
• -c.964 G>C c.G964C D322N
• -c.966 C>A c.C966A D322E
• -c.973 G>A c.G973A G325S
• -c.973 G>C c.G973C G325R
• -c.979 C>G c.C979G Q327E
• -c.983 G>C c.G983C G328A
• -c.1001 G>A c.G1001A G334E
• -c.1012 G>A c.G1012A E338K
• -c.1016 T>A c.T1016A V339E
• -c.1028 C>T c.C1028T P343L
• -c.1033 T>C c.T1033C S345P
• -c.1046 G>C c.G1046C W349S
• -c.1055 C>T c.C1055T A352V
• -c.1061 T>A c.T1061A I354K
• -c.1066 C>G c.C1066G R356G
• -c.1066 C>T c.C1066T R356W
• +c.553A>G c.A553G K185E
• +c.559A>G c.A559G M187V
• +c.559_564dup c.559_564dup p.M187_S188dup
• +c.560T>C c.T560C M187T
• +c.561G>T ou c.561G>A ou c.561G>C c.G561T ou c.G561A ou c.G561C M187I
• +c.572T>A c.T572A L191Q
• +c.581C>T c.C581T T194I
• +c.584G>T c.G584T G195V
• +c.586A>G c.A586G R196G
• +c.593T>C c.T593C I198T
• +c.595G>A c.G595A V199M
• +c.596T>C c.T596C V199A
• +c.596T>G c.T596G V199G
• +c.599A>G c.A599G Y200C
• +c.602C>T c.C602T S201F
• +c.602C>A c.C602A S201Y
• +c.608A>T c.A608T E203V
• +c.609G>C ou c.609G>T c.G609C ou c.G609T E203D
• +c.613C>A c.C613A P205T
• +c.613C>T c.C613T P205S
• +c.614C>T c.C614T P205L
• +c.619T>C c.T619C Y207H
• +c.620A>C c.A620C Y207S
• +c.623T>G c.T623G M208R
• +c.628C>T c.C628T P210S
• +c.629C>T c.C629T P210L
• +c.638A>T c.A638T K213M
• +c.640C>T c.C640T P214S
• +c.641C>T c.C641T P214L
• +c.643A>G c.A643G N215D
• +c.644A>G c.A644G N215S
• +c.[644A>G; 937G>T] c.A644G/G937T N215S/D313Y
• +c.646T>G c.T646G Y216D
• +c.647A>G c.A647G Y216C
• +c.655A>C c.A655C I219L
• +c.656T>A c.T656A I219N
• +c.656T>C c.T656C I219T
• +c.659G>A c.G659A R220Q
• +c.659G>C c.G659C R220P
• +c.662A>C c.A662C Q221P
• +c.671A>C c.A671C N224T
• +c.671A>G c.A671G N224S
• +c.673C>G c.C673G H225D
• +c.683A>G c.A683G N228S
• +c.687T>A ou c.687T>G c.T687A ou c.T687G F229L
• +c.695T>C c.T695C I232T
• +c.713G>A c.G713A S238N
• +c.716T>C c.T716C I239T
• +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.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.733T>G c.T733G W245G
• +c.740C>G c.C740G S247C
• +c.747C>G ou c.747C>A c.C747G ou c.C747A N249K
• +c.749A>C c.A749C Q250P
• +c.749A>G c.A749G Q250R
• +c.750G>C c.G750C Q250H
• +c.758T>C c.T758C I253T
• +c.758T>G c.T758G I253S
• +c.760-762delGTT c.760_762delGTT p.V254del
• +c.769G>C c.G769C A257P
• +c.770C>G c.C770G A257G
• +c.772G>C ou c.772G>A c.G772C ou c.G772A G258R
• +c.773G>T c.G773T G258V
• +c.776C>G c.C776G P259R
• +c.776C>T c.C776T P259L
• +c.779G>A c.G779A G260E
• +c.779G>C c.G779C G260A
• +c.781G>A c.G781A G261S
• +c.781G>T c.G781T G261C
• +c.788A>G c.A788G N263S
• +c.790G>T c.G790T D264Y
• +c.794C>T c.C794T P265L
• +c.800T>C c.T800C M267T
• +c.805G>A c.G805A V269M
• +c.806T>C c.T806C V269A
• +c.809T>C c.T809C I270T
• +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.827G>A c.G827A S276N
• +c.829T>G c.T829G W277G
• +c.831G>T ou c.831G>C c.G831T ou c.G831C W277C
• +c.835C>G c.C835G Q279E
• +c.838C>A c.C838A Q280K
• +c.840A>T ou c.840A>C c.A840T ou c.A840C Q280H
• +c.844A>G c.A844G T282A
• +c.845C>T c.C845T T282I
• +c.850A>G c.A850G M284V
• +c.851T>C c.T851C M284T
• +c.862G>C c.G862C A288P
• +c.866T>G c.T866G I289S
• +c.868A>C ou c.868A>T c.A868C ou c.A868T M290L
• +c.870G>A ou c.870G>C ou c.870G>T c.G870A ou c.G870C ou c.G870T M290I
• +c.871G>A c.G871A A291T
• +c.877C>A c.C877A P293T
• +c.881T>C c.T881C L294S
• +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 c.G888C M296I
• +c.893A>G c.A893G N298S
• +c.897C>G ou c.897C>A c.C897G ou c.C897A D299E
• +c.898C>T c.C898T L300F
• +c.899T>C c.T899C L300P
• +c.901C>G c.C901G R301G
• +c.902G>C c.G902C R301P
• +c.902G>A c.G902A R301Q
• +c.902G>T c.G902T R301L
• +c.907A>T c.A907T I303F
• +c.908T>A c.T908A I303N
• +c.911G>A c.G911A S304N
• +c.911G>C c.G911C S304T
• +c.919G>A c.G919A A307T
• +c.924A>T ou c.924A>C c.A924T ou c.A924C K308N
• +c.925G>C c.G925C A309P
• +c.926C>T c.C926T A309V
• +c.928C>T c.C928T L310F
• +c.931C>G c.C931G L311V
• +c.935A>G c.A935G Q312R
• +c.936G>T ou c.936G>C c.G936T ou 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.946G>A c.G946A V316I
• +c.947T>G c.T947G V316G
• +c.950T>C c.T950C I317T
• +c.955A>T c.A955T I319F
• +c.956T>C c.T956C I319T
• +c.959A>T c.A959T N320I
• +c.962A>G c.A962G Q321R
• +c.962A>T c.A962T Q321L
• +c.963G>C ou c.963G>T c.G963C ou c.G963T Q321H
• +c.964G>C c.G964C D322N
• +c.966C>A ou c.966C>G c.C966A ou c.C966G D322E
• +c.968C>G c.C968G P323R
• +c.973G>A c.G973A G325S
• +c.973G>C c.G973C G325R
• +c.978G>C ou c.978G>T c.G978C ou c.G978T K326N
• +c.979C>G c.C979G Q327E
• +c.983G>C c.G983C G328A
• +c.989A>G c.A989G Q330R
• +c.1001G>A c.G1001A G334E
• +c.1010T>C c.T1010C F337S
• +c.1012G>A c.G1012A E338K
• +c.1016T>A c.T1016A V339E
• +c.1028C>T c.C1028T P343L
• +c.1033T>C c.T1033C S345P
• +c.1046G>C c.G1046C W349S
• +c.1055C>G c.C1055G A352G
• +c.1055C>T c.C1055T A352V
• +c.1061T>A c.T1061A I354K
• +c.1066C>G c.C1066G R356G
• +c.1066C>T c.C1066T R356W
• -c.1073 A>C c.A1073C E358A
• -c.1073 A>G c.A1073G E358G
• -c.1074 G>T c.G1074T E358D
• -c.1076 T>C c.T1076C I359T
• -c.1078 G>A c.G1078A G360S
• -c.1078 G>T c.G1078T G360C
• -c.1079 G>A c.G1079A G360D
• -c.1082 G>A c.G1082A G361E
• -c.1082 G>C c.G1082C G361A
• -c.1084 C>A c.C1084A P362T
• -c.1085 C>T c.C1085T P362L
• -c.1087 C>T c.C1087T R363C
• -c.1088 G>A c.G1088A R363H
• -c.1102 G>A c.G1102A A368T
• -c.1117 G>A c.G1117A G373S
• -c.1153 A>G c.A1153G T385A
• -c.1172 A>C c.A1172C K391T
• -c.1184 G>A c.G1184A G395E
• -c.1184 G>C c.G1184C G395A
• -c.1192 G>A c.G1192A E398K
• -c.1202 Ins GACTTC c.1202Ins GACTTC p. T400_S401dup
• -c.1208 T>C c.T1208C L403S
• -c.1225 C>G c.C1225G P409A
• -c.1225 C>T c.C1225T P409S
• -c.1225 C>A c.C1225A P409T
• -c.1228 A>G c.A1228G T410A
• -c.1229 C>T c.C1229T T410I
• -c.1232 G>A c.G1232A G411D
• -c.1235 C>A c.C1235A T412N
• -c.1253 A>G c.A1253G E418G
• -c.1261 A>G c.A1261G M421V
• +c.1072G>C c.G1072C E358Q
• +c.1073A>C c.A1073C E358A
• +c.1073A>G c.A1073G E358G
• +c.1074G>T ou c.1074G>C c.G1074T ou c.G1074C E358D
• +c.1076T>C c.T1076C I359T
• +c.1078G>A c.G1078A G360S
• +c.1078G>T c.G1078T G360C
• +c.1079G>A c.G1079A G360D
• +c.1082G>A c.G1082A G361E
• +c.1082G>C c.G1082C G361A
• +c.1084C>A c.C1084A P362T
• +c.1085C>T c.C1085T P362L
• +c.1087C>T c.C1087T R363C
• +c.1088G>A c.G1088A R363H
• +c.1102G>A c.G1102A A368T
• +c.1117G>A c.G1117A G373S
• +c.1124G>A c.G1124A G375E
• +c.1153A>G c.A1153G T385A
• +c.1168G>A c.G1168A V390M
• +c.1172A>C c.A1172C K391T
• +c.1184G>A c.G1184A G395E
• +c.1184G>C c.G1184C G395A
• +c.1192G>A c.G1192A E398K
• +c.1202_1203insGACTTC c.1202_1203insGACTTC p.T400_S401dup
• +c.1208T>C c.T1208C L403S
• +c.1225C>G c.C1225G P409A
• +c.1225C>T c.C1225T P409S
• +c.1225C>A c.C1225A P409T
• +c.1228A>G c.A1228G T410A
• +c.1229C>T c.C1229T T410I
• +c.1232G>A c.G1232A G411D
• +c.1235C>A c.C1235A T412N
• +c.1253A>G c.A1253G E418G
• +c.1261A>G c.A1261G M421V
• -Tableau 2: Mutations non sensibles à Galafold (migalstat)
• -Modification d'un nucléotide Modification d'un nucléotide Modification de la séquence d'une protéine
• -c.1 A>C c.A1C M1L
• -c.1 A>G c.A1G M1V
• -c.2 T>G c.T2G M1R
• -c.2 T>C c.T2C M1T
• -c.2 T>A c.T2A M1K
• -c.3 G>A c.G3A M1I
• -c.19 G>T c.G19T E7X
• -c.41 T>C c.T41C L14P
• -c.43 G>C c.G43C A15P
• -c.47 T>A c.T47A L16H
• -c.47 T>C c.T47C L16P
• -c.53 T>C c.T53C F18S
• -c.56 T>A c.T56A L19Q
• -c.56 T>C c.T56C L19P
• -c.59 C>T c.C59T A20V
• +Tableau 2: Mutations non sensibles à Galafold (migalastat)
• +Modification d’un nucléotide Modification d’un nucléotide Modification de la séquence d’une protéine
• +c.1A>C ou c.1A>T c.A1C ou c.A1T M1L
• +c.1A>G c.A1G M1V
• +c.2T>G c.T2G M1R
• +c.2T>C c.T2C M1T
• +c.2T>A c.T2A M1K
• +c.3G>A ou c.3G>T ou c.3G>C c.G3A ou c.G3T ou c.G3C M1I
• +c.19G>T c.G19T E7X
• +c.41T>C c.T41C L14P
• +c.43G>C c.G43C A15P
• +c.44C>A c.C44A A15E
• +c.47T>A c.T47A L16H
• +c.47T>C c.T47C L16P
• +c.53T>C c.T53C F18S
• +c.56T>A c.T56A L19Q
• +c.56T>C c.T56C L19P
• +c.59C>T c.C59T A20V
• -c.62 T>C c.T62C L21P
• -c.62 T>G c.T62G L21R
• -c.71 G>A c.G71A W24X
• -c.92 C>T c.C92T A31V
• -c.118 C>G c.C118G P40A
• -c.118 C>T c.C118T P40S
• -c.119 C>A c.C119A P40H
• -c.119 C>G c.C119G P40R
• -c.119 C>T c.C119T P40L
• -c.127 G>C c.G127C G43R
• -c.127 G>A c.G127A G43S
• -c.128 G>A c.G128A G43D
• -c.128 G>T c.G128T G43V
• -c.131 G>A c.G131A W44X
• -c.132 G>T c.G132T W44C
• -c.134 T>C c.T134C L45P
• -c.134 T>G c.T134G L45R
• +c.62T>C c.T62C L21P
• +c.62T>G c.T62G L21R
• +c.71G>A ou c.72G>A c.G71A ou c.G72A W24X
• +c.92C>T c.C92T A31V
• +c.109G>C c.G109C A37P
• +c.118C>G c.C118G P40A
• +c.118C>T c.C118T P40S
• +c.119C>A c.C119A P40H
• +c.119C>G c.C119G P40R
• +c.119C>T c.C119T P40L
• +c.127G>C c.G127C G43R
• +c.127G>A c.G127A G43S
• +c.128G>A c.G128A G43D
• +c.128G>T c.G128T G43V
• +c.131G>A ou c.132G>A c.G131A ou c.G132A W44X
• +c.132G>T ou c.132G>C c.G132T ou c.G132C W44C
• +c.134T>C c.T134C L45P
• +c.134T>G c.T134G L45R
• -c.136 C>T c.C136T H46Y
• -c.137 A>T c.A137T H46L
• -c.137 A>G c.A137G H46R
• -c.139 T>G c.T139G W47G
• -c.140 G>A ou141 G>A c.G140A ou G141A W47X
• -c.140 G>T c.G140T W47L
• -c.141G>C c.G141C W47C
• -c.139T>C c.T139C W47R
• -c.142 G>A c.G142A E48K
• -c.144 G>T c.G144T E48D
• -c.145 C>T c.C145T R49C
• -c.145 C>A c.C145A R49S
• -c.146 G>T c.G146T R49G
• -c.146 G>C c.G146C R49P
• -c.146 G>T c.G146T R49L
• -c.149 T>G c.T149G F50C
• -c.154 T>G c.T154G C52G
• -c.154 T>C c.T154C C52R
• -c.155 G>C c.G155C C52S
• -c.155 G>A c.G155A C52Y
• -c.156 C>A c.C156A C52X
• -c.156 C>G c.C156G C52W
• -c.166 T>G c.T166G C56G
• -c.167 G>C c.G167C C56S
• -c.168 C>A c.C168A C56X
• -c.187 T>C c.T187C C63R
• -c.188 G>A c.G188A C63Y
• -c.188 G>C c.G188C C63S
• -c.194 G>C (site d'épissage putatif) c.G194C (site d'épissage putatif) INCONNU (S65T)
• -c.194 G>T (site d'épissage putatif) c.G194T (site d'épissage putatif) INCONNU (S65I)
• -c.196 G>C c.G196C E66Q
• -c.202 C>T c.C202T L68F
• -c.215 T>G c.T215G M72R
• -c.218 C>A c.C218A A73E
• -c.227 T>G c.T227G M76R
• -c.233 C>G c.C233G S78X
• -c.235 G>T c.G235T E79X
• -c.241 T>C c.T241C W81R
• -c.242 G>A c.G242A W81X
• -c.242 G>C c.G242C W81S
• -c.243 G>T c.G243T W81C
• -c.244 A>T c.A244T K82X
• -c.256 T>G c.T256G Y86D
• -c.256 T>C c.T256C Y86H
• -c.257 A>G c.A257G Y86C
• -c.258 T>G c.T258G Y86X
• -c.262 T>G c.T262G Y88D
• -c.266 T>C c.T266C L89P
• -c.266 T>G c.T266G L89R
• -c.268 T>C c.T268C C90R
• -c.269 G>A c.G269A C90Y
• -c.270 C>A c.C270A C90X
• -c.274 G>C c.G274C D92H
• -c.274 G>A c.G274A D92N
• -c.274 G>T c.G274T D92Y
• -c.275 A>G c.A275G D92G
• -c.275 A>T c.A275T D92V
• -c.277 G>A c.G277A D93N
• -c.277 G>T c.G277T D93Y
• -c.278 A>G c.A278G D93G
• -c.278 A>T c.A278T D93V
• -c.279 C>G c.C279G D93E
• -c.280 T>G c.T280G C94G
• -c.281 G>C c.G281C C94S
• -c.281 G>A c.G281A C94Y
• -c.284 G>A c.G284A W95X
• -c.284 G>T c.G284T W95L
• -c.284 G>C c.G284C W95S
• -c.295 C>T c.C295T Q99X
• -c.299 G>A c.G299A R100K
• -c.299 G>C c.G299C R100T
• -c.305 C>G c.C305G S102X
• -c.307 G>C c.G307C E103Q
• -c.307 G>T c.G307T E103X
• -c.317 T>G c.T317G L106R
• -c.319 C>T c.C319T Q107X
• -c.320 A>T c.A320T Q107L
• -c.334 C>T c.C334T R112C
• -c.334 C>A c.C334A R112S
• -c.338 T>C c.T338C F113S
• -c.350 T>G c.T350G I117S
• -c.355 C>T c.C355T Q119X
• -c.358 C>G c.C358G L120V
• -c.[358 C>T; 359 T>C] c.C358T/T359C L120S
• -c.359 T>C c.T359C L120P
• -c.361 G>C c.G361C A121P
• -c.371 T>A c.T371A V124D
• -c.374 A>C c.A374C H125P
• -c.379 A>T c.A379T K127X
• -c.386 T>C c.T386C L129P
• -c.389 A>G c.A389G K130R
• -c.392 T>C c.T392C L131P
• -c.394 G>A c.G394A G132R
• -c.395 G>A c.G395A G132E
• -c.395 G>C c.G395C G132A
• -c.398 T>A c.T398A I133N
• -c.400 T>C c.T400C Y134H
• -c.400 T>G c.T400G Y134D
• -c.401 A>C c.A401C Y134S
• -c.402 T>G c.T402G Y134X
• -c.406 G>C c.G406C D136H
• -c.406 G>T c.G406T D136Y
• -c.412 G>A c.G412A G138R
• -c.413 G>A c.G413A G138E
• -c.416 A>C c.A416C N139T
• -c.422 C>A c.C422A T141N
• -c.422 C>T c.C422T T141I
• -c.424 T>C c.T424C C142R
• -c.425 G>A c.G425A C142Y
• -c.426 C>A c.C426A C142X
• -c.426 C>G c.C426G C142W
• -c.427 G>C c.G427C A143P
• -c.439 G>A c.G439A G147R
• -c.440 G>A c.G440A G147E
• -c.443 G>A c.G443A S148N
• -c.444 T>G c.T444G S148R
• -c.453 C>G c.C453G Y151X
• -c.456 C>A c.C456A Y152X
• -c.463 G>C c.G463C D155H
• -c.467 C>A c.C467A A156D
• -c.469 C>T c.C469T Q157X
• -c.484 T>C c.T484C W162R
• -c.485 G>A c.G485A W162X
• -c.485 G>T c.G485T W162L
• -c.486 G>C c.G486C W162C
• -c.488 G>T c.G488T G163V
• -c.491 T>G c.T491G V164G
• -c.493 G>T c.G493T D165Y
• -c.494 A>T c.A494T D165V
• -c.500 T>A c.T500A L167Q
• -c.500 T>C c.T500C L167P
• -c.503 A>G c.A503G K168R
• -c.504 A>C c.A504C K168N
• -c.508 G>A c.G508A D170N
• -c.508 G>C c.G508C D170H
• -c.509 A>G c.A509G D170G
• -c.509 A>T c.A509T D170V
• -c.511 G>C c.G511C G171R
• -c.511 G>T c.G511T G171C
• -c.512 G>A c.G512A G171D
• -c.514 T>G c.T514G C172G
• -c.514 T>C c.T514C C172R
• -c.515 G>C c.G515C C172S
• -c.515 G>T c.G515T C172F
• -c.515 G>A c.G515A C172Y
• -c.516 T>G c.T516G C172W
• -c.519 C>A c.C519A Y173X
• -c.530 T>A c.T530A L177X
• -c.547 G>A (site d'épissage putatif) c.G547A (site d'épissage putatif) INCONNU (G183S)
• -c.548 G>T c.G548T G183V
• -c.557 A>C c.A557C H186P
• -c.560 T>G c.T560G M187R
• -c.572 T>C c.T572C L191P
• -c.605 G>A c.G605A C202Y
• -c.604 T>C c.T604C C202R
• -c.606 T>G c.T606G C202W
• -c.607 G>A c.G607A E203K
• -c.611 G>A ou 612G>A c.G611A ou G612A W204X
• -c.612 G>T c.G612T W204C
• -c.614 C>G c.C614G P205R
• -c.617 T>C c.T617C L206P
• -c.620 A>G c.A620G Y207C
• -c.634 C>T c.C634T Q212X
• -c.658 C>T c.C658T R220X
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• -c.1069 C>T c.C1069T Q357X
• -c.1072 G>A c.G1072A E358K
• -c.1081 G>A c.G1081A G361R
• -c.1088 G>C c.G1088C R363P
• -c.1095 T>A c.T1095A Y365X
• -c.1115 T>A c.T1115A L372Q
• -c.1115 T>C c.T1115C L372P
• -c.1115 T>G c.T1115G L372R
• -c.1117 G>C c.G1117C G373R
• -c.1118 G>A c.G1118A G373D
• +c.853G>C c.G853C A285P
• +c.854C>A c.C854A A285D
• +c.859T>G c.T859G W287G
• +c.860G>A ou c.861G>A c.G860A ou c.G861A W287X
• +c.861G>C ou c.861G>T c.G861C ou c.G861T W287C
• +c.863C>A c.C863A A288D
• +c.865A>T c.A865T I289F
• +c.871G>C c.G871C A291P
• +c.874G>A c.G874A A292T
• +c.874G>C c.G874C A292P
• +c.875C>T c.C875T A292V
• +c.877C>G c.C877G P293A
• +c.877C>T c.C877T P293S
• +c.878C>A c.C878A P293H
• +c.878C>T c.C878T P293L
• +c.881T>G ou c.881T>A c.T881G ou c.T881A L294X
• +c.890C>G c.C890G S297C
• +c.890C>T c.C890T S297F
• +c.892A>C c.A892C N298H
• +c.894T>G ou c.894T>A c.T894G ou c.T894A N298K
• +c.896A>G c.A896G D299G
• +c.899T>A c.T899A L300H
• +c.901C>T c.C901T R301X
• +c.916C>T c.C916T Q306X
• +c.929T>G c.T929G L310R
• +c.931C>T c.C931T L311F
• +c.932T>C c.T932C L311P
• +c.932T>G c.T932G L311R
• +c.947T>A c.T947A V316E
• +c.950T>A c.T950A I317N
• +c.950T>G c.T950G I317S
• +c.958A>T c.A958T N320Y
• +c.960T>G ou c.960T>A c.T960G ou c.T960A N320K
• +c.961C>G c.C961G Q321E
• +c.961C>T c.C961T Q321X
• +c.963_964GG>CA c.G963C/G964C Q321H/D322N
• +c.974G>A c.G974A G325D
• +c.979C>A c.C979A Q327K
• +c.982G>A ou c.982G>C c.G982A ou c.G982C G328R
• +c.982G>T c.G982T G328W
• +c.983G>A c.G983A G328E
• +c.983G>T c.G983T G328V
• +c.988C>T c.C988T Q330X
• +c.997C>T c.C997T Q333X
• +c.998A>G c.A998G Q333R
• +c.1012G>T c.G1012T E338X
• +c.1016T>G c.T1016G V339G
• +c.1018T>C ou c.1018T>A c.T1018C ou c.T1018A W340R
• +c.1019G>C c.G1019C W340S
• +c.1019G>A ou c.1020G>A c.G1019A ou c.G1020A W340X
• +c.1021G>A c.G1021A E341K
• +c.1023A >C ou c.1023A>T c.A1023C ou c.A1023T E341D
• +c.1024C>G c.C1024G R342G
• +c.1024C>T c.C1024T R342X
• +c.1025G>A c.G1025A R342Q
• +c.1025G>C c.G1025C R342P
• +c.1025G>T c.G1025T R342L
• +c.1031T>C c.T1031C L344P
• +c.1034C>G ou c.1034C>A c.C1034G ou c.C1034A S345X
• +c.1042G>C c.G1042C A348P
• +c.1045T>C ou c.1045T>A c.T1045C ou c.T1045A W349R
• +c.1046G>A ou c.1047G>A c.G1046A ou c.G1047A W349X
• +c.1048G>C c.G1048C A350P
• +c.1054G>C c.G1054C A352P
• +c.1055C>A c.C1055A A352D
• +c.1065C>A ou c.1065C>G c.C1065A ou c.C1065G N355K
• +c.1069C>T c.C1069T Q357X
• +c.1072G>A c.G1072A E358K
• +c.1081G>A ou c.1081G>C c.G1081A ou c.G1081C G361R
• +c.1088G>C c.G1088C R363P
• +c.1095T>A ou c.1095T>G c.T1095A ou c.T1095G Y365X
• +c.1115T>A c.T1115A L372Q
• +c.1115T>C c.T1115C L372P
• +c.1115T>G c.T1115G L372R
• +c.1117G>C c.G1117C G373R
• +c.1118G>A c.G1118A G373D
• -c.1130 C>A c.C1130A A377D
• -c.1132 T>C c.T1132C C378R
• -c.1133 G>A c.G1133A C378Y
• -c.1144 T>C c.T1144C C382R
• -c.1145 G>A c.G1145A C382Y
• -c.1146 C>G c.C1146G C382W
• -c.1151 T>A c.T1151A I384N
• -c.1153 A>C c.A1153C T385P
• -c.1156 C>T c.C1156T Q386X
• -c.1157 A>C c.A1157C Q386P
• -c.1165 C>G c.C1165G P389A
• -c.1166 C>G c.C1166G P389R
• -c.1166 C>T c.C1166T P389L
• -c.1181_1183dup c.1181_1183dup L394_G395InsV
• -c.1187 T>A c.T1187A F396Y
• -c.1192 G>T c.G1192T E398X
• -c.1196 G>A ou 1197 G>A c.G1196A ou G1197A W399X
• -c.1202 C>G c.C1202G S401X
• -c.1215 T>A c.T1215A S405R
• -c.1217 A>G c.A1217G H406R
• -c.1219 A>G c.A1219G I407V
• -c.1220 T>A c.T1220A I407K
• -c.1220 T>G c.T1220G I407R
• +c.1130C>A c.C1130A A377D
• +c.1132T>C c.T1132C C378R
• +c.1133G>A c.G1133A C378Y
• +c.1144T>C c.T1144C C382R
• +c.1145G>A c.G1145A C382Y
• +c.1146C>G c.C1146G C382W
• +c.1151T>A c.T1151A I384N
• +c.1153A>C c.A1153C T385P
• +c.1156C>T c.C1156T Q386X
• +c.1157A>C c.A1157C Q386P
• +c.1163T>C c.T1163C L388P
• +c.1165C>G c.C1165G P389A
• +c.1166C>G c.C1166G P389R
• +c.1166C>T c.C1166T P389L
• +c.1181_1183dup c.1181_1183dup L394_G395insV
• +c.1187T>A c.T1187A F396Y
• +c.1192G>T c.G1192T E398X
• +c.1193A>C c.A1193C E398A
• +c.1196G>A ou c.1197G>A c.G1196A ou c.G1197A W399X
• +c.1196G>C c.G1196C W399S
• +c.1202C>G ou c.1202C>A c.C1202G ou c.C1202A S401X
• +c.1215T>A c.T1215A S405R
• +c.1217A>G c.A1217G H406R
• +c.1219A>G c.A1219G I407V
• +c.1220T>A c.T1220A I407K
• +c.1220T>G c.T1220G I407R
• -c.1228 A>C c.A1228C T410P
• -c.1229 C>A c.C1229A T410K
• -c.1241 T>C c.T1241C L414S
• -c.1243 C>T c.C1243T L415F
• -c.1244 T>C c.T1244C L415P
• -c.1246 C>T c.C1246T Q416X
• +c.1228A>C c.A1228C T410P
• +c.1229C>A c.C1229A T410K
• +c.1241T>C c.T1241C L414S
• +c.1243C>T c.C1243T L415F
• +c.1244T>C c.T1244C L415P
• +c.1246C>T c.C1246T Q416X
• -c.1250 T>G c.T1250G L417R
• +c.1250T>G c.T1250G L417R
• +c.1288T>C c. T1288C X430Q
• +
• -c.18delA c.18delA p.P6fs 114
• -c.26delA c.26delA p.H9Lfs 111
• -c.32delG c.32delG p.G11Afs 109
• -c.33delC c.33delC p.G11fs 109
• +c.18delA c.18delA p.P6fs*114
• +c.26delA c.26delA p.H9Lfs*111
• +c.32delG c.32delG p.G11Afs*109
• +c.33delC c.33delC p.G11fs*109
• -c.35_47del c.35_47del p.C12Ffs 104
• -c.147_148 Ins CCC c.147_148 Ins CCC p.49Ins P
• -c.58_83del c.58_83del p.A20_G28delfs 2
• -
• +c.35_47del c.35_47del p.C12Ffs*104
• -c.85dupG c.85dupG p.A29Gfs 1
• -c.123delC c.123delC p.T41fs 79
• -c.123_126dupCATG c.123_126dupCATG p.G43Hfs 13
• -c.124_125del c.124_125del p.M42Gfs 12
• -c.125_137del c.125_137del p.M42Tfs 74
• -c.154delT c.154delT p.C52Afs 68
• -c.162delT c.162delT p.L54fs 66
• -c.181_182dupA c.181_182dupA p.D61Efs 5
• -c.184delT c.184delT p.S62Pfs 58
• +c.58_83del c.58_83del p.A20_G28delfs*2
• +c.85dupG c.85dupG p.A29Gfs*1
• +c.89delG c.89delG p.R30Kfs*89
• +c.123delC c.123delC p.T41fs*79
• +c.123_126dupCATG c.123_126dupCATG p.G43Hfs*13
• +c.124_125del c.124_125del p.M42Gfs*12
• +c.125_137del c.125_137del p.M42Tfs*74
• +c.147_148insCCC c.147_148insCCC p.49insP
• +c.147_148insCGC c.147_148insCGC p.R49ins
• +c.154delT c.154delT p.C52Afs*68
• +c.162delT c.162delT p.L54fs*66
• +c.181_182dupA c.181_182dupA p.D61Efs*5
• +c.184delT c.184delT p.S62Pfs*58
• -c.256delT c.256delT p.Y88Mfs 42
• -
• +c.214delA c.214delA p.M72Wfs*47
• +c.256delT c.256delT p.Y88Mfs*42
• +g.5052_5079del28 g.5052_5079del28 INCONNU
• +
• -c.259_276Del c.259_276 Del p.87_92del
• -c.267_268dupCT c.267_268dupCT p.C90Sfs 31
• +c.259_276del c.259_276del p.87_92del
• +c.267_268dupCT c.267_268dupCT p.C90Sfs*31
• -c.281_286delinsT c.281_286delinsT p.C94Ffs 26
• -c.297_298del c.297_298del p.Q99fs 22
• +c.281_286delinsT c.281_286delinsT p.C94Ffs*26
• +c.297_298del c.297_298del p.Q99fs*22
• -c.317_327del c.317_327del p.S102fs 16
• -c.323_324insCAGA c.323_324insCAGA p.D109Rfs 14
• -c.336 Del18 c.336 Del18 p.113del6aa
• -c.358 Del6 c.358 Del6 p.120del2aa/L120H
• -c.363delT c.363delT p.A121fs 8
• +c.317_327del c.317_327del p.S102fs*16
• +c.323_324insCAGA c.323_324insCAGA p.D109Rfs*14
• +c.336del18 c.336del18 p.113del6aa
• +c.358del6 c.358del6 p.120del2aa/L120H
• +c.363delT c.363delT p.A121fs*8
• -g.7086_7487del c.370-183_547+41del INCONNU (del Exon3?)
• -g.6736_11545del c.370-533_c.1290+277del INCONNU (del Exon3_7?)
• -g.6547_9783del c.369+1279_640-348del INCONNU (del Exon3 et 4?)
• -g.>5.5 kb del to 3UTR c.?_?del INCONNU (del Exon3_3’UTR?)
• -c.[374 A>T;383 G>A] c.A374T/G383A H125L/G128E
• +g.6547_9783del c.369+1279_640-348del INCONNU(del Exon3 et 4?)
• +g.6736_11545del c.370-533_c.1290+277del INCONNU (del Exon3_7?)
• +g.7086_7487del c.370-183_547+41del INCONNU(del Exon3?)
• +g.>5.5kbdel to 3UTR c.?_?del INCONNU (delExon3_3’UTR?)
• +c.[374A>T;383G>A] c.A374T/G383A H125L/G128E
• -c.409delG c.409delG p.V137Lfs 27
• -c.413dupG c.413dupG p.G138fs 2
• -c.421delA c.421delA p.T141Pfs 23
• -c.426dupC c.426dupC p.A143Rfs 13
• -c.452delA c.452delA p.Y151Sfs 13
• +c.409delG c.409delG p.V137Lfs*27
• +c.413dupG c.413dupG p.G138fs*2
• +c.421delA c.421delA p.T141Pfs*23
• +c.426dupC c.426dupC p.A143Rfs*13
• +c.452delA c.452delA p.Y151Sfs*13
• -c.477delT c.477delT p.F159Lfs 5
• -c.486_498del c.486_498del p.W162Cfs 1
• -c.516 InsGAC c.516 InsGAC p. 152 Ins D
• -c.520delT c.520delT p.C174Vfs 17
• -c.[604 T>C;644 A>G] c.T604C/A644G p. C202R/N215S
• -c.568delG c.568delG p.A190Pfs 1
• -c.590delG c.590delG p.S197Tfs 42
• -c.606delT c.606delT p.C202Wfs 37
• +c.477delT c.477delT p.F159Lfs*5
• +c.486_498del c.486_498del p.W162Cfs*1
• +c.516insGAC c.516insGAC p.152ins D
• +c.520delT c.520delT p.C174Vfs*17
• +c.560delT c.560delT p.M187Sfs*3
• +c.568delG c.568delG p.A190Pfs*1
• +c.590delG c.590delG p.S197Tfs*42
• +c.[604T>C; 644A>G] c.T604C/A644G p.C202R/N215S
• +c.606delT c.606delT p.C202Wfs*37
• -c.614delC c.614delC p.P205Lfs 34
• -c.618_619del c.618_619del p.L206fs 24
• -c.621dupT c.621dupT p.M208Yfs 24
• +c.614delC c.614delC p.P205Lfs*34
• +c.618_619del c.618_619del p.L206fs*24
• +c.621dupT c.621dupT p.M208Yfs*24
• -c.646dupT c.646dupT p.Y216Lfs 15
• -c.646delT c.646delT p.Y216Ifs 23
• -c.650_663dup14 c.650_663dup14 p.Q221fs 23
• -c.672_673ins37 c.672_673ins37 p.H225Tfs 18
• -c.674_732del c.674_732del p.H225Lfs 5
• -c.678delG c.678delG p.A230Lfs 9
• -c.715_717 del c.715_717 del p.del I239
• -c.716dupT c.716dupT p.I239fs 10
• -c.718_719del c.718_719del p.K240Efs 8
• -c.719dupA c.719dupA p.K240fs 9
• -c.722delG c.722delG p.S241Ifs 27
• -c.723dupT c.723dupT p.S238fs 8
• -c.732delC c.732delC p.D244fs 24
• +c.646dupT c.646dupT p.Y216Lfs*15
• +c.646delT c.646delT p.Y216Ifs*23
• +c.650_663dup14 c.650_663dup14 p.Q221fs*23
• +c.672_673ins37 c.672_673ins37 p.H225Tfs*18
• +c.674_732del c.674_732del p.H225Lfs*5
• +c.678delG c.678delG p.A230Lfs*9
• +c.715_717del c.715_717del p.delI239
• +c.716dupT c.716dupT p.I239fs*10
• +c.718_719del c.718_719del p.K240Efs*8
• +c.719dupA c.719dupA p.K240fs*9
• +c.722delG c.722delG p.S241Ifs*27
• +c.723dupT c.723dupT p.S238fs*8
• +c.736_739delinsCAA c.736_739delinsCAA p.T246Qfs*21
• +c.732delC c.732delC p.D244fs*24
• -c.744delT c.744delT p.F248Lfs 20
• -c.744_745del c.744_745del p.F248Lfs 6
• -c.746_747del c.746_747del p.N249Tfs 5
• -c.759delT c.759delT p.I253Mfs 15
• -c.760dupG c.760dupG p.V254Gfs 1
• -c.761_762del c.761_762del p.V254Gfs 9
• -c.774_775del c.774_775del p.G258fx 5
• -c.777delA c.777delA p.P259fs 9
• -c.782dupG c.782dupG p.G261fs 3
• -c.807delG c.807delG p.V269fs 12
• -c.833dupA c.833dupA p.N278Kfs 20
• -c.833delA c.833delA p.N278Ifs 3
• +c.744delT c.744delT p.F248Lfs*20
• +c.744_745del c.744_745del p.F248Lfs*6
• +c.746_747del c.746_747del p.N249Tfs*5
• +c.759delT c.759delT p.I253Mfs*15
• +c.760dupG c.760dupG p.V254Gfs*1
• +c.761_762del c.761_762del p.V254Gfs*9
• +c.774_775del c.774_775del p.G258fx*5
• +c.777delA c.777delA p.P259fs*9
• +c.782dupG c.782dupG p.G261fs*3
• +c.802-2_802-3delCA c.802-2_802-3delCA INCONNU
• +c.803_806delTAGT c.803_806delTAGT p.L268X
• +c.807delG c.807delG p.V269fs*12
• +c.833dupA c.833dupA p.N278Kfs*20
• +c.833delA c.833delA p.N278Ifs*3
• -c.881delT c.881delT p.L294Yfs 22
• -c.892_893insT c.892_893insT p.N298I 1
• -c.893_894insG c.893_894insG p.N298Kfs 1
• -c.902dupG c.902dupG p.R301fs 13
• -c.909_918del c.909_918del p.I303Mfx 10
• -c.914delC c.914delC p.P305Lfs 11
• -c.931delC c.931delC p.L311Ffs 5
• +c.881delT c.881delT p.L294Yfs*22
• +c.892_893insT c.892_893insT p.N298Ifs*1
• +c.893_894insG c.893_894insG p.N298Kfs*1
• +c.902dupG c.902dupG p.R301fs*13
• +c.909_918del c.909_918del p.I303Mfx*10
• +c.914delC c.914delC p.P305Lfs*11
• +c.931delC c.931delC p.L311Ffs*5
• -c.950_954dupTTGCC c.950_954dupTTGCC p.A318fs 31
• -c.974dupG c.974dupG p.G325fs 7
• -c.986delA c.986delA p.Y329Sfs 18
• -c.988delC c.988delC p.Q330Sfs 17
• +c.950_954dupTTGCC c.950_954dupTTGCC p.A318fs*31
• +c.974dupG c.974dupG p.G325fs*7
• +c.986delA c.986delA p.Y329Sfs*18
• +c.988delC c.988delC p.Q330Sfs*17
• -c.994delA c.994delA p.R332Dfs 15
• -c.996_999del c.996_999del p.R332fs 14
• -c.997dupC c.997dupC p.Q333Pfs 5
• -c.1011_1029del c.1011_1029del p.F337fs 4
• -c.1017_1020delins24 c.1017_1020delins24 p.V339fs 7
• -c.1017_1027del c.1017_1027del p.V339fs 5
• -c.1021delG c.1021delG p.E341Nfs 6
• -c.1025delG c.1025delG p.R342Hfs 5
• -c.1030_1031insT c.1030_1031insT p.L344fs 30
• -c.1033_1034del c.1033_1034del p.S345Rfs 28
• -c.1037delG c.1037delG p.G346Afs 1
• -c.1040dupT c.1040dupT p.L347Ffs 27
• -c.1041dupA c.1041dupA p.L347fs 27
• -c.1042dupG c.1042dupG p.A348Gfs 26
• -c.1043_1044insG c.1043_1044insG p.A348fs 26
• -c.1049delC c.1049delC p.A350Vfs 1
• -c.1151_1152delinsAT c.1151_1152delinsAT p.I384N
• +c.994delA c.994delA p.R332Dfs*15
• +c.996_999del c.996_999del p.R332fs*14
• +c.997dupC c.997dupC p.Q333Pfs*5
• +c.1011_1029del c.1011_1029del p.F337fs*4
• +c.1017_1020delins24 c.1017_1020delins24 p.V339fs*7
• +c.1017_1027del c.1017_1027del p.V339fs*5
• +c.1021delG c.1021delG p.E341Nfs*6
• +c.1025delG c.1025delG p.R342Hfs*5
• +c.1030_1031insT c.1030_1031insT p.L344fs*30
• +c.1033_1034del c.1033_1034del p.S345Rfs*28
• +c.1037delG c.1037delG p.G346Afs*1
• +c.1040dupT c.1040dupT p.L347Ffs*27
• +c.1041dupA c.1041dupA p.L347fs*27
• +c.1042dupG c.1042dupG p.A348Gfs*26
• +c.1043_1044insG c.1043_1044insG p.A348fs*26
• +c.1049delC c.1049delC p.A350Vfs*1
• +c.1055_1056delCT c.1055_1056delCT p.A352Dfs*20
• -c.1057_1058del c.1057_1058del p.M353Dfs 20
• +c.1057_1058del c.1057_1058del p.M353Dfs*20
• -c.1074_1075del c.1074_1075del p.E358Dfs 15
• -c.1077delT c.1077delT p.I359Mfs 31
• -c.1081_1100del c.1081_1100del p.G360fs 7
• -c.1086_1098del c.1086_1098del p.P362fs 24
• -c.1088delG c.1088delG p.R363Pfs 27
• -c.1091_1092del c.1091_1092del p.S364Lfs 9
• -c.1093dupT c.1093dupT p.Y365Lfs 9
• +c.1074_1075del c.1074_1075del p.E358Dfs*15
• +c.1077delT c.1077delT p.I359Mfs*31
• +c.1081_1100del c.1081_1100del p.G360fs*7
• +c.1086_1098del c.1086_1098del p.P362fs*24
• +c.1088delG c.1088delG p.R363Pfs*27
• +c.1091_1092del c.1091_1092del p.S364Lfs*9
• +c.1093dupT c.1093dupT p.Y365Lfs*9
• -c.1096_1100del c.1096_1100del p.Y365fs 7
• -c.1102delGinsTTATAC c.1102delGinsTTATAC p.A368delinsFYfs 23
• -c.1122_1125del c.1122_1125del p.K374fs 15
• +c.1096_1100del c.1096_1100del p.Y365fs*7
• +c.1102delG c.1102delG p.A368Qfs*21
• +c.1102delGinsTTATAC c.1102delGinsTTATAC p.A368delinsFYfs*23
• +c.1122_1125del c.1122_1125del p.K374fs*15
• -c.1139delC c.1139delC p.380Lfs 10
• -c.1145_1149del c.1145_1149del p.C382Yfs 14
• +c.1139delC c.1139delC p.380Lfs*10
• +c.1145_1149del c.1145_1149del p.C382Yfs*14
• -c.1156_1157del c.1156_1157del p.Q386Afs 10
• -c.1167dupT c.1167dupT p.P389fs 9
• -c.1168 Ins T c.1168 Ins T p. V390fs 9
• -c.1176_1179del c.1176_1179del p.R392Sfs 1
• -c.1177_1178del c.1177_1178del p.K393Afs 4
• -c.1187dupT c.1187dupT p.F396fs 2
• -c.1187delT c.1187delT p.F396Sfs 7
• -c.1188delC c.1188delC p.F396fs 7
• -c.1201dupT c.1201dupT p.S401Ffs 49
• +c.1151_1152delinsAT c.1151_1152delinsAT p.I384N
• +c.1156_1157del c.1156_1157del p.Q386Afs*10
• +c.1167dupT c.1167dupT p.P389fs*9
• +c.1168ins T c.1168ins T p.V390fs*9
• +c.1176_1179del c.1176_1179del p.R392Sfs*1
• +c.1177_1178del c.1177_1178del p.K393Afs*4
• +c.1187dupT c.1187dupT p.F396fs*2
• +c.1187delT c.1187delT p.F396Sfs*7
• +c.1188delC c.1188delC p.F396fs*7
• +c.1201dupT c.1201dupT p.S401Ffs*49
• -c.1223delA c.1223delA p.N408Ifs 9
• -c.1235_1236del c.1235_1236del p.T412Sfs 37
• -c.1277_1278del c.1277_1278del p.K426Rfs 23
• -c.1284_1287del c.1284_1287del p.L428Ffs 23
• -c.359 T>C; c.361 G>A c.T359C/G361A L120P/A121T
• -c.644 A>G; c.811 G>A c.A644G; c.G811A N215S/G271S
• -c.[644 A>G; 811 G>A; 937 G>T] c.A644G/G811A/G937T N215S/G271S/D313Y
• -c.790 G>T; c.805 G>A c.G790T/G805A D264Y/V269M
• -c.963_964 GG>CC c.G963C/G964C Q321H/D322N
• -c.1288 T>C c. T1288C X430Q
• -IVS1+2 T>C c.194+2 T>C INCONNU
• -IVS1-1 G>A c.195-1 G>A INCONNU
• -IVS1-1 G>T c.195-1 G>T INCONNU
• -IVS1-2 A>G c.195-2 A>G INCONNU
• -IVS1-2 A>G;IVS1-49 T>C c.[195-2 A>G;195-49 T>C] INCONNU
• -IVS2+1 G>A c.369+1 G>A INCONNU
• -IVS2+2 T>G c.369+2 T>G INCONNU
• -IVS2-2 A>G c.370-2A>G INCONNU
• -IVS3+1 G>A c.547+1 G>A INCONNU
• -IVS3+1 G>C c.547+1 G>C INCONNU
• -IVS3-2 A>G c.548-2 A>G INCONNU
• -IVS3-1 G>A c.548-1 G>A INCONNU
• -IVS3-1 G>C c.548-1 G>C INCONNU
• -IVS3-1 G>T c.548-1 G>T INCONNU
• -IVS4-1 G>T c.639-1 G>T INCONNU
• -IVS4+1 G>A c.639+1 G>A INCONNU
• -IVS4+1 G>C c.639+1 G>C INCONNU
• -IVS4+4 A>T c.639+4 A>T INCONNU
• -IVS4+861 C>T c.639+861 C>T INCONNU
• -IVS4+919 G>A c.639+919G>A INCONNU
• -IVS4-11 T>A c.640-11 T>A INCONNU
• -IVS4-3 C>G c.640-3 C>G INCONNU
• -IVS4-2 A>T c.640-2 A>T INCONNU
• -IVS4-1 G>A c.640-1 G>A INCONNU
• -IVS5+2 T>C c.801+2 T>C INCONNU
• -IVS5+3 A>G c.801+3 A>G INCONNU
• -IVS5+4 A>G c.801+4 A>G INCONNU
• -IVS5-2 A>G c.802-2 A>G INCONNU
• -IVS6+1 G>T c.999+1 G>T INCONNU
• -IVS6+2 T>C c.999+2 T>C INCONNU
• -IVS6-2 A>G c.1000-2 A>G INCONNU
• -IVS6-2 A>T c.1000-2 A>T INCONNU
• -IVS6-1 G>A c.1000-1 G>A INCONNU
• -IVS6-1 G>C c.1000-1 G>C INCONNU
• +c.1223delA c.1223delA p.N408Ifs*9
• +c.1235_1236del c.1235_1236del p.T412Sfs*37
• +c.1277_1278del c.1277_1278del p.K426Rfs*23
• +c.1284_1287del c.1284_1287del p.L428Ffs*23
• +IVS1+2T>C c.194+2T>C INCONNU
• +IVS1+39delAT c.194+39delAT INCONNU
• +IVS1-1G>A c.195-1G>A INCONNU
• +IVS1-1G>T c.195-1G>T INCONNU
• +IVS1-2A>G c.195-2A>G INCONNU
• +IVS1-2A>G;IVS1-49T>C c.[195-2A>G;195-49T>C] INCONNU
• +IVS2+1G>A c.369+1G>A INCONNU
• +IVS2+2T>G c.369+2T>G INCONNU
• +IVS2-2A>G c.370-2A>G INCONNU
• +IVS3+1G>A c.547+1G>A INCONNU
• +IVS3+1G>C c.547+1G>C INCONNU
• +IVS3-2A>G c.548-2A>G INCONNU
• +IVS3-1G>A c.548-1G>A INCONNU
• +IVS3-1G>C c.548-1G>C INCONNU
• +IVS3-1G>T c.548-1G>T INCONNU
• +IVS4+1G>A c.639+1G>A INCONNU
• +IVS4+1G>C c.639+1G>C INCONNU
• +IVS4+4A>T c.639+4A>T INCONNU
• +IVS4+861C>T c.639+861C>T INCONNU
• +IVS4+919G>A c.639+919G>A INCONNU
• +IVS4-11T>A c.640-11T>A INCONNU
• +IVS4-3C>G c.640-3C>G INCONNU
• +IVS4-2A>T c.640-2A>T INCONNU
• +IVS4-1G>A c.640-1G>A INCONNU
• +IVS4-1G>T c.640-1G>T INCONNU
• +IVS5+2T>C c.801+2T>C INCONNU
• +IVS5+3A>G c.801+3A>G INCONNU
• +IVS5+4A>G c.801+4A>G INCONNU
• +IVS5-2A>G c.802-2A>G INCONNU
• +IVS6+1G>T c.999+1G>T INCONNU
• +IVS6+2T>C c.999+2T>C INCONNU
• +IVS6-2A>G c.1000-2A>G INCONNU
• +IVS6-2A>T c.1000-2A>T INCONNU
• +IVS6-1G>A c.1000-1G>A INCONNU
• +IVS6-1G>C c.1000-1G>C INCONNU
• +IVS6-10G>A; IVS6-22C>T c.[1000-10G>A; 1000-22C>T] INCONNU