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Result of the research

La recherche comporte 45 résultat(s)

270 - F

Mutation location: Exon 3

HGVS nomenclature: p.Arg247Cys

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268 - F_lyon

Mutation location: Exon 2

HGVS nomenclature: p.Lys198Glu

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266 - I

Mutation location: Exon 2

HGVS nomenclature: p.Arg63Cys

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303 - M_1bruxelles

Mutation location: Exon 2

HGVS nomenclature: p.His39Leu

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289 - M_1Lyon

Mutation location: Exon 4

HGVS nomenclature: p.Ala308Ser

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298 - M_1orléans

Mutation location: Exon 5

HGVS nomenclature: p.Ala356Asp

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290 - M_1steenwerck

Mutation location: Exon 3

HGVS nomenclature: p.His293Gln

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288 - M_1Strasbourg

Mutation location: Exon 2

HGVS nomenclature: p.Ala82Thr

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301 - M₃

Mutation location: Exon 5

HGVS nomenclature: p.Glu400Asp

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272 - M₄

Mutation location: Exon 2

HGVS nomenclature: p.Arg125His

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294 - M_6passau

Mutation location: Exon 2

HGVS nomenclature: p.Ala84Thr

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280 - M_heerlen

Mutation location: Exon 5

HGVS nomenclature: p.Pro393Leu

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292 - M_malton

Mutation location: Exon 2

HGVS nomenclature: p.Phe76del

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300 - M_{mineral springs}

Mutation location: Exon 2

HGVS nomenclature: p.Gly91Glu

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293 - M_palermo

Mutation location: Exon 2

HGVS nomenclature: p.F76del

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299 - M_procida

Mutation location: Exon 2

HGVS nomenclature: p.Leu65Pro

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302 - M_rouen

Mutation location: Exon 2

HGVS nomenclature: p.Arg63His

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279 - M_wurzburg

Mutation location: Exon 5

HGVS nomenclature: p.Pro393Ser

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260 - O_feyzin

Mutation location: Exon 2

HGVS nomenclature: p.Tyr62Cys

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283 - P_cardiff

Mutation location: Exon 3

HGVS nomenclature: p.Asp280Val;p.Val237Ala

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284 - P_duarte

Mutation location: Exon 3

HGVS nomenclature: p.Asp280Val;p.Arg125His

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285 - P_lowell

Mutation location: Exon 3

HGVS nomenclature: p.Asp280Val

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286 - Q_{0 Granite falls}

Mutation location: Exon 2

HGVS nomenclature: p.(Tyr184*)

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262 - Q_0achicourt

Mutation location: Intron 3

HGVS nomenclature: No aa change

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278 - Q_0amiens

Mutation location: Intron 4

HGVS nomenclature: p.?

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277 - Q_0anzin

Mutation location: Exon 4

HGVS nomenclature: p.Thr318Metfs*6

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291 - Q_0bellingham

Mutation location: Exon 3

HGVS nomenclature: p.Lys241*

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276 - Q_0cairo

Mutation location: Exon 3

HGVS nomenclature: p.Lys283*

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275 - Q_0casablanca

Mutation location: Exon 2

HGVS nomenclature: p.His97Metfs*7

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261 - Q_0clayton

Mutation location: Exon 5

HGVS nomenclature: p.(Glu387Argfs*14)

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281 - Q_0lille

Mutation location: Exon 2

HGVS nomenclature: p.(His97Metfs*7)

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282 - Q_0lisbon

Mutation location: Exon 2

HGVS nomenclature: p.Thr92Ile

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296 - Q_0lomme

Mutation location: Intron 3

HGVS nomenclature: p.*

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259 - Q_0mattawa

Mutation location: Exon 5

HGVS nomenclature: p.Leu377PhefsX24

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274 - Q_0ourém

Mutation location: Exon 5

HGVS nomenclature: p.Leu377Phefs*24

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267 - S

Mutation location: Exon 3

HGVS nomenclature: p.Glu288Val

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271 - S_munich

Mutation location: Exon 4

HGVS nomenclature: p.Ser354Phe

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258 - S_Roubaix

Mutation location: Exon 2

HGVS nomenclature: p.Ser71Arg

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295 - T_ijarafe

Mutation location: Exon 2

HGVS nomenclature: p.Ile74Asn

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273 - V

Mutation location: Exon 2

HGVS nomenclature: p.Gly148Arg

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265 - V_munich

Mutation location: Exon 2

HGVS nomenclature: p.Asp26Ala

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269 - X

Mutation location: Exon 3

HGVS nomenclature: p.Glu228Lys

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297 - X_christchurch

Mutation location: Exon 5

HGVS nomenclature: p.Glu387Lys

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254 - Z

Mutation location: Exon 5

HGVS nomenclature: p.Glu366Lys

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287 - Z_bristol

Mutation location: Exon 2

HGVS nomenclature: p.Thr109Met

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