2 | A85fs*66, E188K, E223Q, E288Q, F67C, K75T, L241F, Q173H, Q47E, T179I, T201I, V193M, V21L, W13*, W57G, Y208C, D122N, D268H, D61Y, E188fs*7, E71Q, G119S, G70A, H78R, K178E, L27I, N131I, P235L, Q107K, S169R, T210S, V21A, V242I, A157T, D284N, E150*, E164Q, K46fs*3, L244M, L249V, Q66E, R2M, V165A, D268G, D26G, E288G, I8K, K62N, L142F, P133L, P133S, P216L, P43Q, T285I, V174G, V174I, V174L, V6I, A85T, C209Y, D103Y, D276N, E39K, E39Q, F257L, I8V, K75N, L106F, M59I, P133fs*21, R198K, V143A, V147A, V30A, splice site 683–1G>A, D108N, D122Y, D73N, D90Y, G159C, G177C, H14Y, I38T, L190F, L53P, R213*, R238K, T221A, V29M, V68E, V76F, C272Y, D171G, E188V, E71K, H69N, K25R, L92H, T196A, T221I, V242A, A51V, A97V, A98T, E45K, E45Q, F257C, H69R, P161L, P216H, Q139E, Q91H, S80R, T181A, T256S, V23F, V68A, W57*, Y160H, splice site 394+1G>A |
1 | D90A, E152Q, E158V, E288K, E31G, F211fs*4, F4S, G245A, G245V, G252D, G264V, G70R, I126F, I126L, I199V, I38M, I3T, K162N, K189Q, L197P, L244V, L251fs*30, L50V, L94Q, N135D, N183D, N192I, P161S, P24A, Q275R, R113S, R238T, R265G, R82K, S283T, V111L, V253G, V269M, Y134*, splice site 630_682+272del325, P146*, P234S, Q173*, Q47R, R186G, R198T, R212I, S176G, T102I, T20A, T37K, V174A, V174D, W167*, Y28S, splice site 682+1G>A, splice site 790+1G>A, A121V, A222V, A246V, D215Y, D49G, D61V, D90fs*10, E158fs*15, E288D, F207fs*8, F211C, G252C, G264R, H240L, I166V, I65M, K25M, K89N, L16R, L190I, L255R, L53I, M59T, N183fs*22, N236D, P227A, P234R, Q100R, Q107*, Q156E, Q83R, R2K, S195I, T154I, T182P, T22S, V128L, V130L, V174F, Y12F, Y32C, Y56C, splice site 683-2A>C, C209F, C209S, D171N, D276E, I206M, I206T, I226L, I226M, I243V, K136E, L142fs*12, M115L, N200S, N204I, N219T, N236I, N96S, P227T, Q100H, Q282R, Q91E, R140*, R186*, R198G, R262G, R2W, T127fs*3, T203S, V143I, V44A, V55F, V68M, Y123H, splice site 53–49_82del79, *291Qext*42, A51D, A85S, A98V, C250G, C272R, C40fs*5, D145fs*8, D284Y, D49N, E152K, E158G, E188D, E188fs*12, E218Q, G119V, G264fs*21, I64V, K124N, K46R, L248S, L287V, M10T, M10V, M36T, M36V, N131K, N138T, N17D, N192fs*13, N200D, N219I, N236H, S79G, T194A, T285S, W167C, W57S, Y118F, Y134C, splice site 790+1G>T, splice site 851–1G>C, *291Sext*42, A18S, A222G, A232P, A85fs*5, A97T, C114Y, C250Y, D215N, E150G, E31A, F211L, F7fs*27, G252S, G264W, H172Y, H240P, I258F, I64M, I64T, K281N, K41*, L190R, L249S, L251F, N131H, N138H, N138K, N35D, P43A, Q100*, Q66fs*13, S195R, T127A, T180I, T202I, T202R, T239S, T37A, V23I, V29G, splice site 683–1G>T, D145E, D61H, D73H, E164A, E187V, E237*, E237Q, E71*, F7L, G159R, H151fs*3, H240Y, I141V, N35K, N96H, N96Y, P230L, P230T, Q275*, R125L, R213del, S184P, S195N, T181I, T203A, T203I, T285A, T290_T290>?, T290fs*3+, V143F, V76I, splice site 52+1G>A, splice site 791–1G>C, *291Yext*42, A246D, D122E, D145H, E187K, E205K, E223V, E228V, E31K, F211I, F259L, G177V, G273D, H151L, H69L, I126S, I166L, I199fs*16, I243T, I54L, K189E, K271N, K280Q, L190V, L231M, L241*, L244P, L255M, L50M, L53R, L88F, M115T, M1?, M267I, N204K, N35H, N63Y, P234F, P43L, R186K, R213K, R2G, R82I, A157S, A51S, D103N, D26N, D90E, E158Q, E58G, F67I, H151R, H172Q, H220D, I3M, K162R, K185E, K263E, L106*, L142W, L261F, N183H, P234T, Q156K, R113L, R186T, R212T, R265I, S149Y, T154S, T285P, V165L, Y81H, splice site 394+2T>A, splice site 790+1_790+4delGTAG, A132D, A254G, A5D, D103H, D145N, D26Y, D276H, D61E, E188Q, E228G, E31_Y32insFTVTVPKDLYVVE, E60Q, F9fs*27, G110E, G33C, G70E, H14R, H172P, H69Y, H78Y, I101T, I141M, I258V, K162Q, K189M, K41_E45>R, L16M, L197R, L255Q, L48S, M267T, N131S |