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The CFTR-France database has retrieved 880 SUBSTITUTIONS, which are displayed below:
| #Exon/intron | Name | Legacy name | Classe |
|---|---|---|---|
| UTR 5 | c.-118G>A | non disease-causing | |
| UTR 5 | c.-85C>G | 48C/G | non disease-causing |
| UTR 5 | c.-8G>C | 125G/C | non disease-causing |
| UTR 5 | c.-966T>G | -834T/G ; -895T/G (from the cap site) | non disease-causing |
| UTR 5 | c.-165G>A | -33G>A | unclassified |
| UTR 5 | c.-226G>T | unclassified | |
| UTR 5 | c.-234T>A | -102T>A | unclassified |
| UTR 5 | c.-274C>A | unclassified | |
| UTR 5 | c.-288G>C | unclassified | |
| UTR 5 | c.-2C>T | unclassified | |
| UTR 5 | c.-330T>G | unclassified | |
| UTR 5 | c.-34C>T | 99C/T | unclassified |
| UTR 5 | c.-461A>G | -329A/G | unclassified |
| UTR 5 | c.-4G>C | 129G/C | unclassified |
| UTR 5 | c.-730A>G | unclassified | |
| UTR 5 | c.-812T>G | -741T>G | unclassified |
| Exon 1 | c.1A>G | M1V | disease-causing |
| Exon 1 | c.2T>A | M1K | disease-causing |
| Exon 1 | c.2T>C | M1T | disease-causing |
| Exon 1 | c.3G>A | M1I(ATA) | disease-causing |
| Exon 1 | c.4C>T | Q2X (together with R3W) | disease-causing |
| Exon 1 | c.7A>T | Q2X (together with R3W) | unclassified |
| Exon 1 | c.8G>T | R3M | unclassified |
| Exon 1 | c.11C>A | S4X | disease-causing |
| Exon 1 | c.14C>T | P5L | disease-causing |
| Exon 1 | c.26C>T | A9V | unclassified |
| Exon 1 | c.31G>A | 163G/A | unclassified |
| Exon 1 | c.37T>C | S13P | unclassified |
| Exon 1 | c.38C>T | S13F | disease-causing |
| Exon 1 | c.40A>T | K14X | disease-causing |
| Exon 1 | c.44T>C | L15P | disease-causing |
| Intron 1 | c.53+1G>T | 185+1G>T | disease-causing |
| Intron 1 | c.53+4A>T | 185+4A>T | unclassified |
| Intron 1 | c.54-13C>G | 186-13C>G | unclassified |
| Intron 1 | c.54-589A>G | unclassified | |
| Intron 1 | c.53+3158A>G | non disease-causing | |
| Exon 2 | c.57G>A | W19X | disease-causing |
| Exon 2 | c.57G>T | W19C | unclassified |
| Exon 2 | c.79G>A | G27R | disease-causing |
| Exon 2 | c.79G>C | G27R(211G to C) | unclassified |
| Exon 2 | c.79G>T | G27X | disease-causing |
| Exon 2 | c.80G>A | G27E | unclassified |
| Exon 2 | c.91C>T | R31C ; 223C/T | unclassified |
| Exon 2 | c.92G>T | R31L | unclassified |
| Exon 2 | c.95T>C | L32P | unclassified |
| Exon 2 | c.106G>A | D36N | unclassified |
| Exon 2 | c.122C>G | P41R | unclassified |
| Exon 2 | c.125C>T | S42F | unclassified |
| Exon 2 | c.131A>G | D44G | disease-causing |
| Exon 2 | c.137C>A | A46D | disease-causing |
| Exon 2 | c.137C>T | A46V | unclassified |
| Exon 2 | c.148T>C | S50P | disease-causing |
| Exon 2 | c.154A>T | K52X | disease-causing |
| Exon 2 | c.157T>G | L53V | unclassified |
| Exon 2 | c.164G>A | R55K | unclassified |
| Intron 2 | c.164+1G>C | 296+1G>C | disease-causing |
| Intron 2 | c.165-2A>C | disease-causing | |
| Intron 2 | c.165-2A>G | 297-2A>G | disease-causing |
| Intron 2 | c.165-3C>T | 297-3C>T | disease-causing |
| Intron 2 | c.164+28A>G | 296+ 28A- >G | unclassified |
| Exon 3 | c.166G>A | E56K | disease-causing |
| Exon 3 | c.169T>G | W57G | disease-causing |
| Exon 3 | c.170G>A | W57X(TAG) | disease-causing |
| Exon 3 | c.171G>A | W57X(TGA) | disease-causing |
| Exon 3 | c.173A>G | D58G | unclassified |
| Exon 3 | c.178G>A | E60K | disease-causing |
| Exon 3 | c.178G>T | E60X | disease-causing |
| Exon 3 | c.200C>T | P67L | disease-causing |
| Exon 3 | c.202A>G | K68E | unclassified |
| Exon 3 | c.215C>A | A72D | unclassified |
| Exon 3 | c.220C>T | R74W | disease-causing |
| Exon 3 | c.221G>A | R74Q | unclassified |
| Exon 3 | c.223C>T | R75X | disease-causing |
| Exon 3 | c.224G>A | R75Q | non disease-causing |
| Exon 3 | c.224G>T | R75L | unclassified |
| Exon 3 | c.228T>G | C76W | unclassified |
| Exon 3 | c.235T>C | W79R | unclassified |
| Exon 3 | c.236G>A | W79X | disease-causing |
| Exon 3 | c.244A>G | M82V | unclassified |
| Exon 3 | c.250T>C | Y84H | unclassified |
| Exon 3 | c.254G>A | G85E | disease-causing |
| Exon 3 | c.254G>T | G85V | disease-causing |
| Exon 3 | c.258C>G | I86M | unclassified |
| Exon 3 | c.259T>C | F87L | unclassified |
| Exon 3 | c.263T>G | L88X | disease-causing |
| Exon 3 | c.266A>G | Y89C | unclassified |
| Exon 3 | c.271G>A | G91R | disease-causing |
| Intron 3 | c.273+1G>A | 405+1G>A | disease-causing |
| Intron 3 | c.273+4A>G | 405+ 4A- >G | unclassified |
| Intron 3 | c.274-1G>C | 406-1G>C | disease-causing |
| Intron 3 | c.274-1G>T | 406-1G>T | disease-causing |
| Intron 3 | c.274-2A>G | 406- 2A- >G | disease-causing |
| Intron 3 | c.274-6T>C | 406-6T>C | unclassified |
| Intron 3 | c.273+27A>G | unclassified | |
| Intron 3 | c.273+46T>G | 405+46G/T | non disease-causing |
| Exon 4 | c.274G>A | E92K | disease-causing |
| Exon 4 | c.274G>T | E92X | disease-causing |
| Exon 4 | c.278T>G | V93G | unclassified |
| Exon 4 | c.283A>G | K95E | unclassified |
| Exon 4 | c.287C>A | A96E | unclassified |
| Exon 4 | c.293A>G | Q98R | disease-causing |
| Exon 4 | c.296C>G | P99R | disease-causing |
| Exon 4 | c.296C>T | P99L | disease-causing |
| Exon 4 | c.298C>G | L100V | unclassified |
| Exon 4 | c.302T>C | L101S | unclassified |
| Exon 4 | c.305T>C | L102P | unclassified |
| Exon 4 | c.314T>A | I105N | unclassified |
| Exon 4 | c.323C>T | S108F | disease-causing |
| Exon 4 | c.325T>A | Y109N | unclassified |
| Exon 4 | c.326A>G | Y109C | unclassified |
| Exon 4 | c.327T>A | Y109X | disease-causing |
| Exon 4 | c.328G>C | D110H | disease-causing |
| Exon 4 | c.330C>A | D110E | disease-causing |
| Exon 4 | c.331C>G | P111A | disease-causing |
| Exon 4 | c.332C>T | P111L | disease-causing |
| Exon 4 | c.334G>A | D112N | unclassified |
| Exon 4 | c.346G>A | E116K | disease-causing |
| Exon 4 | c.349C>G | R117G | disease-causing |
| Exon 4 | c.349C>T | R117C | disease-causing |
| Exon 4 | c.350G>A | R117H | disease-causing |
| Exon 4 | c.350G>C | R117P | disease-causing |
| Exon 4 | c.350G>T | R117L | disease-causing |
| Exon 4 | c.355A>G | I119V | unclassified |
| Exon 4 | c.357C>G | I119M | unclassified |
| Exon 4 | c.357C>T | unclassified | |
| Exon 4 | c.358G>A | A120T | unclassified |
| Exon 4 | c.359C>T | A120V | unclassified |
| Exon 4 | c.360G>A | A120A (492G/A) | unclassified |
| Exon 4 | c.365A>G | Y122C | unclassified |
| Exon 4 | c.366T>A | Y122X | disease-causing |
| Exon 4 | c.377G>A | G126D | disease-causing |
| Exon 4 | c.410T>G | L137R | unclassified |
| Exon 4 | c.415C>T | H139Y | unclassified |
| Exon 4 | c.416A>G | H139R | disease-causing |
| Exon 4 | c.422C>A | A141D | unclassified |
| Exon 4 | c.433C>G | L145V | disease-causing |
| Exon 4 | c.437A>G | H146R | unclassified |
| Exon 4 | c.443T>C | I148T | non disease-causing |
| Exon 4 | c.445G>A | G149R | disease-causing |
| Exon 4 | c.451C>A | Q151K | unclassified |
| Exon 4 | c.454A>G | M152V | disease-causing |
| Exon 4 | c.454A>T | M152L | unclassified |
| Exon 4 | c.472A>C | S158R | unclassified |
| Exon 4 | c.472A>G | S158G | unclassified |
| Exon 4 | c.473G>A | S158N | unclassified |
| Exon 4 | c.473G>C | S158T | unclassified |
| Exon 4 | c.476T>C | L159S | unclassified |
| Exon 4 | c.481T>A | Y161N | unclassified |
| Exon 4 | c.481T>G | Y161D | disease-causing |
| Exon 4 | c.482A>C | Y161S | unclassified |
| Exon 4 | c.487A>C | K163Q | unclassified |
| Intron 4 | c.489+1G>T | 621+1G>T | disease-causing |
| Intron 4 | c.489+2T>C | 621+2T>C | disease-causing |
| Intron 4 | c.489+2T>G | 621+2T>G | disease-causing |
| Intron 4 | c.489+3A>G | 621+3A>G | disease-causing |
| Intron 4 | c.490-3T>G | disease-causing | |
| Intron 4 | c.489+33T>C | unclassified | |
| Intron 4 | c.489+76T>C | unclassified | |
| Intron 4 | c.490-165T>C | unclassified | |
| Exon 5 | c.490A>C | T164P | unclassified |
| Exon 5 | c.494T>C | L165S | disease-causing |
| Exon 5 | c.500T>G | L167R | unclassified |
| Exon 5 | c.508C>T | R170C | unclassified |
| Exon 5 | c.509G>A | R170H | disease-causing |
| Exon 5 | c.523A>G | I175V | disease-causing |
| Exon 5 | c.527G>T | S176I | unclassified |
| Exon 5 | c.532G>A | G178R | disease-causing |
| Exon 5 | c.533G>A | G178E | unclassified |
| Exon 5 | c.535C>A | Q179K | unclassified |
| Exon 5 | c.544A>C | S182R | unclassified |
| Exon 5 | c.547C>A | L183I | unclassified |
| Exon 5 | c.558C>A | N186K | disease-causing |
| Exon 5 | c.571T>G | F191V | disease-causing |
| Exon 5 | c.574G>A | D192N | unclassified |
| Exon 5 | c.575A>G | D192G | disease-causing |
| Exon 5 | c.577G>A | E193K | disease-causing |
| Exon 5 | c.577G>T | E193X | disease-causing |
| Intron 5 | c.579+1G>T | 711+1G>T | disease-causing |
| Intron 5 | c.579+3A>G | 711+3A>G | disease-causing |
| Intron 5 | c.579+5G>A | 711+ 5G- >A | disease-causing |
| Intron 5 | c.580-1G>T | 712-1G>T | disease-causing |
| Intron 5 | c.580-62T>G | unclassified | |
| Intron 5 | c.580-90C>T | unclassified | |
| Intron 5 | c.580-92T>A | 712-92T/A | unclassified |
| Exon 6 | c.580G>A | G194R | disease-causing |
| Exon 6 | c.581G>T | G194V | disease-causing |
| Exon 6 | c.595C>T | H199Y | disease-causing |
| Exon 6 | c.596A>G | H199R | disease-causing |
| Exon 6 | c.598T>A | F200I | disease-causing |
| Exon 6 | c.601G>A | V201M | disease-causing |
| Exon 6 | c.609C>G | I203M | unclassified |
| Exon 6 | c.613C>T | P205S | disease-causing |
| Exon 6 | c.617T>C | L206S | unclassified |
| Exon 6 | c.617T>G | L206W | disease-causing |
| Exon 6 | c.618G>T | L206F | unclassified |
| Exon 6 | c.619C>T | Q207X | disease-causing |
| Exon 6 | c.627A>G | A209A (759A/G) | unclassified |
| Exon 6 | c.647G>A | W216X | disease-causing |
| Exon 6 | c.650A>G | E217G | unclassified |
| Exon 6 | c.658C>T | Q220X | disease-causing |
| Exon 6 | c.674G>A | C225Y | unclassified |
| Exon 6 | c.680T>C | L227P | unclassified |
| Exon 6 | c.680T>G | L227R | disease-causing |
| Exon 6 | c.695T>A | V232D | disease-causing |
| Exon 6 | c.701C>A | A234D | unclassified |
| Exon 6 | c.709C>G | Q237E | disease-causing |
| Exon 6 | c.710A>T | Q237L | unclassified |
| Exon 6 | c.711G>C | Q237H | unclassified |
| Exon 6 | c.715G>A | G239R | unclassified |
| Exon 6 | c.721G>T | G241W | unclassified |
| Exon 6 | c.731T>A | M244K | unclassified |
| Intron 6 | c.743+40A>G | 875+40A/G | non disease-causing |
| Exon 7 | c.745G>T | D249Y | unclassified |
| Exon 7 | c.769G>T | E257X | disease-causing |
| Exon 7 | c.772A>G | R258G | disease-causing |
| Exon 7 | c.774A>C | R258S | unclassified |
| Exon 7 | c.794T>G | M265R | disease-causing |
| Exon 7 | c.808C>T | Q270X | disease-causing |
| Exon 7 | c.825C>G | Y275X | disease-causing |
| Exon 7 | c.837A>T | E279D | unclassified |
| Exon 7 | c.846A>T | E282D | unclassified |
| Exon 7 | c.859A>T | N287Y | unclassified |
| Exon 7 | c.861C>G | N287K | unclassified |
| Exon 7 | c.868C>T | Q290X | disease-causing |
| Intron 7 | c.869+5G>A | disease-causing | |
| Intron 7 | c.869+5G>T | unclassified | |
| Intron 7 | c.869+8G>T | unclassified | |
| Intron 7 | c.869+11C>T | 1001+11C/T | non disease-causing |
| Intron 7 | c.869+88T>A | unclassified | |
| Intron 7 | c.870-12T>A | disease-causing | |
| Intron 7 | c.870-1095A>G | unclassified | |
| Intron 7 | c.870-1101T>C | unclassified | |
| Intron 7 | c.870-1125A>G | unclassified | |
| Exon 8 | c.874G>A | E292K | unclassified |
| Exon 8 | c.874G>T | E292X | disease-causing |
| Exon 8 | c.890G>A | R297Q | unclassified |
| Exon 8 | c.899C>A | A300D | unclassified |
| Exon 8 | c.902A>G | Y301C | unclassified |
| Exon 8 | c.912C>G | Y304X | disease-causing |
| Exon 8 | c.920G>A | S307N | unclassified |
| Exon 8 | c.926C>G | A309G | unclassified |
| Exon 8 | c.933C>A | F311L(C->A) | disease-causing |
| Exon 8 | c.933C>G | F311L | disease-causing |
| Exon 8 | c.941G>A | G314E | disease-causing |
| Exon 8 | c.941G>C | G314A | unclassified |
| Exon 8 | c.941G>T | G314V | unclassified |
| Exon 8 | c.958T>G | L320V | unclassified |
| Exon 8 | c.959T>A | L320X | disease-causing |
| Exon 8 | c.964G>A | V322M (1096(G/A)) | unclassified |
| Exon 8 | c.965T>C | V322A | unclassified |
| Exon 8 | c.979C>G | L327V | unclassified |
| Exon 8 | c.980T>G | L327R | unclassified |
| Exon 8 | c.1000C>T | R334W | disease-causing |
| Exon 8 | c.1001G>A | R334Q | disease-causing |
| Exon 8 | c.1001G>T | R334L | disease-causing |
| Exon 8 | c.1007T>A | I336K | disease-causing |
| Exon 8 | c.1013C>T | T338I | disease-causing |
| Exon 8 | c.1021T>C | S341P | disease-causing |
| Exon 8 | c.1037T>C | L346P | disease-causing |
| Exon 8 | c.1039C>T | R347C | unclassified |
| Exon 8 | c.1040G>A | R347H | disease-causing |
| Exon 8 | c.1040G>C | R347P | disease-causing |
| Exon 8 | c.1040G>T | R347L | disease-causing |
| Exon 8 | c.1043T>A | M348K | unclassified |
| Exon 8 | c.1046C>T | A349V | unclassified |
| Exon 8 | c.1052C>G | T351S | unclassified |
| Exon 8 | c.1054C>G | R352G | unclassified |
| Exon 8 | c.1054C>T | R352W | disease-causing |
| Exon 8 | c.1055G>A | R352Q | disease-causing |
| Exon 8 | c.1057C>T | Q353X | disease-causing |
| Exon 8 | c.1064C>T | P355L | unclassified |
| Exon 8 | c.1069G>A | A357T | unclassified |
| Exon 8 | c.1070C>T | A357V | unclassified |
| Exon 8 | c.1076A>G | Q359R | disease-causing |
| Exon 8 | c.1081T>A | W361R(T>A) | unclassified |
| Exon 8 | c.1081T>C | W361R(T>C) | disease-causing |
| Exon 8 | c.1090T>C | S364P | disease-causing |
| Exon 8 | c.1116G>A | unclassified | |
| Intron 8 | c.1116+1G>A | 1248+1G>A | disease-causing |
| Intron 8 | c.1117-5A>G | 1249-5A>G | disease-causing |
| Intron 8 | c.1116+31A>C | 1248+31 A/C | unclassified |
| Exon 9 | c.1118A>G | D373G | unclassified |
| Exon 9 | c.1125A>C | L375F | unclassified |
| Exon 9 | c.1135G>A | E379K | unclassified |
| Exon 9 | c.1139A>G | Y380C | unclassified |
| Exon 9 | c.1163C>T | T388M | unclassified |
| Exon 9 | c.1175T>G | V392G | disease-causing |
| Exon 9 | c.1177G>C | V393L | unclassified |
| Exon 9 | c.1202G>A | W401X(TAG) | disease-causing |
| Exon 9 | c.1203G>A | W401X(TGA) | disease-causing |
| Exon 9 | c.1209G>A | E403E (1341G/A) | disease-causing |
| Exon 9 | c.1209G>C | E403D | disease-causing |
| Intron 9 | c.1209+1G>A | 1341+1G>A | disease-causing |
| Intron 9 | c.1209+2T>G | disease-causing | |
| Intron 9 | c.1210-6T>A | unclassified | |
| Intron 9 | c.1209+18A>C | 1341+18A>C | unclassified |
| Intron 9 | c.1209+28C>T | unclassified | |
| Exon 10 | c.1240C>T | Q414X | disease-causing |
| Exon 10 | c.1270G>A | G424S | unclassified |
| Exon 10 | c.1315C>T | P439S | unclassified |
| Exon 10 | c.1327G>T | D443Y | disease-causing |
| Exon 10 | c.1331T>C | I444T | disease-causing |
| Exon 10 | c.1355A>C | Q452P | disease-causing |
| Exon 10 | c.1358T>C | L453S | disease-causing |
| Exon 10 | c.1364C>A | A455E | disease-causing |
| Exon 10 | c.1364C>T | A455V | unclassified |
| Exon 10 | c.1365G>A | unclassified | |
| Exon 10 | c.1366G>T | V456F | unclassified |
| Exon 10 | c.1367T>C | V456A | disease-causing |
| Exon 10 | c.1373G>T | G458V | disease-causing |
| Exon 10 | c.1388G>T | G463V | unclassified |
| Exon 10 | c.1390A>C | K464Q | unclassified |
| Exon 10 | c.1392G>T | K464N | disease-causing |
| Intron 10 | c.1393-1G>A | 1525-1G->A | disease-causing |
| Intron 10 | c.1393-2A>G | 1525-2A>G | disease-causing |
| Intron 10 | c.1393-3C>A | unclassified | |
| Intron 10 | c.1393-61A>G | 1525-61A/G | non disease-causing |
| Exon 11 | c.1397C>A | S466X(TAA) | disease-causing |
| Exon 11 | c.1397C>G | S466X(TGA) | disease-causing |
| Exon 11 | c.1397C>T | S466L | unclassified |
| Exon 11 | c.1399C>T | 1531C/T (L467F) | unclassified |
| Exon 11 | c.1405A>G | M469V | disease-causing |
| Exon 11 | c.1408A>G | M470V | non disease-causing |
| Exon 11 | c.1420G>A | E474K | disease-causing |
| Exon 11 | c.1429C>T | P477S | unclassified |
| Exon 11 | c.1438G>A | G480S | unclassified |
| Exon 11 | c.1438G>T | G480C | unclassified |
| Exon 11 | c.1439G>A | G480D | unclassified |
| Exon 11 | c.1453A>T | S485C | unclassified |
| Exon 11 | c.1466C>A | S489X | disease-causing |
| Exon 11 | c.1466C>T | S489L | unclassified |
| Exon 11 | c.1471T>C | C491R | disease-causing |
| Exon 11 | c.1475C>T | S492F | disease-causing |
| Exon 11 | c.1477C>T | Q493X | disease-causing |
| Exon 11 | c.1494G>C | M498I | unclassified |
| Exon 11 | c.1495C>T | P499S | unclassified |
| Exon 11 | c.1499G>T | G500V | unclassified |
| Exon 11 | c.1501A>G | T501A | disease-causing |
| Exon 11 | c.1505T>C | I502T | disease-causing |
| Exon 11 | c.1516A>C | I506L | unclassified |
| Exon 11 | c.1516A>G | I506V (1648A/G) | unclassified |
| Exon 11 | c.1517T>C | I506T | disease-causing |
| Exon 11 | c.1518C>G | 1650C/G | unclassified |
| Exon 11 | c.1523T>G | F508C | disease-causing |
| Exon 11 | c.1538A>G | D513G | disease-causing |
| Exon 11 | c.1555A>G | S519G | unclassified |
| Exon 11 | c.1558G>A | V520I | unclassified |
| Exon 11 | c.1558G>T | V520F | disease-causing |
| Exon 11 | c.1562T>G | I521S | unclassified |
| Exon 11 | c.1568C>A | A523E | unclassified |
| Exon 11 | c.1573C>A | Q525K | unclassified |
| Exon 11 | c.1573C>T | Q525X | disease-causing |
| Exon 11 | c.1580A>G | E527G | unclassified |
| Exon 11 | c.1581A>G | E527E (1713A/G) | unclassified |
| Exon 11 | c.1583A>C | E528A | unclassified |
| Exon 11 | c.1584G>A | E528E (1716G/A) | non disease-causing |
| Intron 11 | c.1584+1G>A | 1716+1G->A | disease-causing |
| Intron 11 | c.1584+2T>C | 1716+2T>C | disease-causing |
| Intron 11 | c.1585-1G>A | 1717-1G>A | disease-causing |
| Intron 11 | c.1585-3T>C | unclassified | |
| Intron 11 | c.1585-8G>A | 1717-8G>A | disease-causing |
| Intron 11 | c.1584+12T>C | 1716+12T/C | unclassified |
| Intron 11 | c.1584+64T>C | unclassified | |
| Intron 11 | c.1584+77A>G | 1716+ 77A/G | unclassified |
| Intron 11 | c.1585-84A>C | unclassified | |
| Intron 11 | c.1585-9212G>A | unclassified | |
| Intron 11 | c.1585-9218G>A | non disease-causing | |
| Intron 11 | c.1585-9395C>G | unclassified | |
| Intron 11 | c.1585-9412A>G | disease-causing | |
| Intron 11 | c.1585-9418T>C | unclassified | |
| Intron 11 | c.1585-9449C>A | unclassified | |
| Exon 12 | c.1601C>A | A534E | unclassified |
| Exon 12 | c.1603G>A | E535K | unclassified |
| Exon 12 | c.1609G>A | D537N | disease-causing |
| Exon 12 | c.1616T>C | I539T | unclassified |
| Exon 12 | c.1624G>T | G542X | disease-causing |
| Exon 12 | c.1630G>A | G544S | unclassified |
| Exon 12 | c.1631G>T | G544V | unclassified |
| Exon 12 | c.1645A>C | S549R(A>C) | disease-causing |
| Exon 12 | c.1646G>A | S549N | disease-causing |
| Exon 12 | c.1647T>G | S549R(T>G) | disease-causing |
| Exon 12 | c.1651G>A | G551S | disease-causing |
| Exon 12 | c.1652G>A | G551D | disease-causing |
| Exon 12 | c.1654C>T | Q552X | disease-causing |
| Exon 12 | c.1655A>C | Q552P | disease-causing |
| Exon 12 | c.1657C>G | R553G | unclassified |
| Exon 12 | c.1657C>T | R553X | disease-causing |
| Exon 12 | c.1658G>A | R553Q | unclassified |
| Exon 12 | c.1661C>A | A554E | unclassified |
| Exon 12 | c.1666A>G | I556V | non disease-causing |
| Exon 12 | c.1673T>C | L558S | disease-causing |
| Exon 12 | c.1675G>A | A559T | disease-causing |
| Exon 12 | c.1679G>A | R560K | disease-causing |
| Intron 12 | c.1679+1G>C | 1811+1G>C | disease-causing |
| Intron 12 | c.1679+9C>G | unclassified | |
| Intron 12 | c.1680-1G>A | 1812-1G>A | disease-causing |
| Intron 12 | c.1679+18G>A | 1811+18G->A | unclassified |
| Intron 12 | c.1680-99T>C | 1812- 99 T- >C | unclassified |
| Intron 12 | c.1680-717A>G | non disease-causing | |
| Intron 12 | c.1680-870T>A | 1811+1650T>A | non disease-causing |
| Intron 12 | c.1680-871A>G | unclassified | |
| Intron 12 | c.1680-877G>T | 1811+1643G->T | disease-causing |
| Intron 12 | c.1680-883A>G | disease-causing | |
| Intron 12 | c.1680-886A>G | 1811+1.6kbA>G | disease-causing |
| Intron 12 | c.1680-981T>C | unclassified | |
| Exon 13 | c.1680A>C | R560S | disease-causing |
| Exon 13 | c.1682C>A | A561E | disease-causing |
| Exon 13 | c.1684G>A | V562I | unclassified |
| Exon 13 | c.1684G>C | V562L | unclassified |
| Exon 13 | c.1687T>A | Y563N | disease-causing |
| Exon 13 | c.1690A>G | K564E | unclassified |
| Exon 13 | c.1694A>G | D565G | disease-causing |
| Exon 13 | c.1695T>G | D565E | unclassified |
| Exon 13 | c.1696G>A | A566T | unclassified |
| Exon 13 | c.1704G>T | L568F | disease-causing |
| Exon 13 | c.1705T>C | Y569H | disease-causing |
| Exon 13 | c.1705T>G | Y569D | disease-causing |
| Exon 13 | c.1706A>G | Y569C | unclassified |
| Exon 13 | c.1707T>A | Y569X | disease-causing |
| Exon 13 | c.1720C>T | P574S | unclassified |
| Exon 13 | c.1721C>A | P574H | disease-causing |
| Exon 13 | c.1721C>G | P574R | unclassified |
| Exon 13 | c.1723T>G | F575V | unclassified |
| Exon 13 | c.1724T>A | F575Y | disease-causing |
| Exon 13 | c.1727G>C | G576A | non disease-causing |
| Exon 13 | c.1730A>T | Y577F | unclassified |
| Exon 13 | c.1731C>T | Y577Y (1863C/T) | unclassified |
| Exon 13 | c.1736A>G | D579G | disease-causing |
| Exon 13 | c.1745C>T | T582I | disease-causing |
| Exon 13 | c.1753G>T | E585X | disease-causing |
| Exon 13 | c.1759T>A | F587I | unclassified |
| Exon 13 | c.1762G>A | E588K | unclassified |
| Exon 13 | c.1763A>T | E588V | disease-causing |
| Exon 13 | c.1766G>A | S589N | unclassified |
| Intron 13 | c.1766+1G>A | 1898+1G>A | disease-causing |
| Intron 13 | c.1766+1G>C | 1898+1G>C | disease-causing |
| Intron 13 | c.1766+3A>C | 1898+3A>C | disease-causing |
| Intron 13 | c.1766+3A>G | 1898+3A>G | disease-causing |
| Intron 13 | c.1766+5G>A | 1898+5G>A | disease-causing |
| Intron 13 | c.1766+5G>T | 1898+5G>T | disease-causing |
| Intron 13 | c.1766+73T>G | 1898+73T>G | unclassified |
| Intron 13 | c.1767-12T>G | unclassified | |
| Intron 13 | c.1767-58G>C | unclassified | |
| Intron 13 | c.1766+152T>A | 1898+152T/A | non disease-causing |
| Exon 14 | c.1769G>A | C590Y | unclassified |
| Exon 14 | c.1781T>C | L594P | unclassified |
| Exon 14 | c.1783A>G | M595V | unclassified |
| Exon 14 | c.1784T>C | M595T | unclassified |
| Exon 14 | c.1792A>G | K598E | unclassified |
| Exon 14 | c.1792A>T | K598X | disease-causing |
| Exon 14 | c.1798A>G | R600G | unclassified |
| Exon 14 | c.1800G>T | R600S | unclassified |
| Exon 14 | c.1801A>T | I601F | disease-causing |
| Exon 14 | c.1802T>C | I601T | unclassified |
| Exon 14 | c.1811C>T | T604I | disease-causing |
| Exon 14 | c.1819A>G | M607V | unclassified |
| Exon 14 | c.1826A>G | H609R | disease-causing |
| Exon 14 | c.1826A>T | H609L | unclassified |
| Exon 14 | c.1841A>G | D614G | disease-causing |
| Exon 14 | c.1847T>C | I616T | unclassified |
| Exon 14 | c.1853T>A | I618N | unclassified |
| Exon 14 | c.1853T>C | I618T | disease-causing |
| Exon 14 | c.1853T>G | I618S | unclassified |
| Exon 14 | c.1865G>A | G622D | disease-causing |
| Exon 14 | c.1882G>A | G628R(G->A) | disease-causing |
| Exon 14 | c.1882G>C | G628R(G->C) | disease-causing |
| Exon 14 | c.1897C>T | L633F | unclassified |
| Exon 14 | c.1900C>T | Q634X | disease-causing |
| Exon 14 | c.1920T>C | F640F (2052T/C) | unclassified |
| Exon 14 | c.1966G>T | E656X | disease-causing |
| Exon 14 | c.1970G>A | R657K | unclassified |
| Exon 14 | c.1990G>C | E664Q | unclassified |
| Exon 14 | c.1990G>T | E664X | disease-causing |
| Exon 14 | c.2002C>T | R668C | disease-causing |
| Exon 14 | c.2017G>T | G673X | disease-causing |
| Exon 14 | c.2057C>A | S686Y | unclassified |
| Exon 14 | c.2065C>T | Q689X | disease-causing |
| Exon 14 | c.2074G>C | E692Q | unclassified |
| Exon 14 | c.2096A>G | N699S | unclassified |
| Exon 14 | c.2125C>T | R709X | disease-causing |
| Exon 14 | c.2128A>T | K710X | disease-causing |
| Exon 14 | c.2145A>C | Q715H | unclassified |
| Exon 14 | c.2168G>T | G723V | unclassified |
| Exon 14 | c.2173G>A | E725K | unclassified |
| Exon 14 | c.2192C>T | P731L | unclassified |
| Exon 14 | c.2195T>G | L732X | disease-causing |
| Exon 14 | c.2210C>T | S737F | unclassified |
| Exon 14 | c.2233G>T | G745X(Gly745X) | disease-causing |
| Exon 14 | c.2245C>T | L749L (2377C/T) | unclassified |
| Exon 14 | c.2249C>T | P750L | disease-causing |
| Exon 14 | c.2252G>T | R751L | unclassified |
| Exon 14 | c.2259C>T | S753S (2391C/T) | unclassified |
| Exon 14 | c.2260G>A | V754M | non disease-causing |
| Exon 14 | c.2290C>T | R764X | disease-causing |
| Exon 14 | c.2295G>T | R765S | unclassified |
| Exon 14 | c.2297G>A | R766K | unclassified |
| Exon 14 | c.2299C>T | Q767X | disease-causing |
| Exon 14 | c.2327C>G | S776X | disease-causing |
| Exon 14 | c.2335C>A | Q779K | unclassified |
| Exon 14 | c.2353C>T | R785X | disease-causing |
| Exon 14 | c.2374C>G | R792G | unclassified |
| Exon 14 | c.2374C>T | R792X | disease-causing |
| Exon 14 | c.2378A>T | K793I | unclassified |
| Exon 14 | c.2395C>A | Q799K | unclassified |
| Exon 14 | c.2417A>G | D806G | unclassified |
| Exon 14 | c.2421A>G | I807M ; 2553A/G | disease-causing |
| Exon 14 | c.2428A>G | R810G | unclassified |
| Exon 14 | c.2450G>T | G817V | unclassified |
| Exon 14 | c.2464G>A | E822K | unclassified |
| Exon 14 | c.2464G>T | E822X | disease-causing |
| Exon 14 | c.2476G>A | E826K | unclassified |
| Exon 14 | c.2479G>T | E827X | disease-causing |
| Exon 14 | c.2483A>G | D828G | unclassified |
| Exon 14 | c.2488A>T | K830X | disease-causing |
| Intron 14 | c.2490+1G>A | 2622+1G>A | disease-causing |
| Intron 14 | c.2490+2T>C | 2622+2T>C | unclassified |
| Intron 14 | c.2490+5G>T | unclassified | |
| Intron 14 | c.2491-51T>C | 2623-51T>C | unclassified |
| Exon 15 | c.2491G>T | E831X | disease-causing |
| Exon 15 | c.2496C>A | C832X | disease-causing |
| Exon 15 | c.2502T>G | F834L | unclassified |
| Exon 15 | c.2506G>T | D836Y | unclassified |
| Exon 15 | c.2522C>G | P841R | unclassified |
| Exon 15 | c.2537G>A | W846X | disease-causing |
| Exon 15 | c.2538G>A | W846X (2670TGG>TGA) | disease-causing |
| Exon 15 | c.2540A>G | N847S | unclassified |
| Exon 15 | c.2547C>A | Y849X | disease-causing |
| Exon 15 | c.2551C>T | R851X | disease-causing |
| Exon 15 | c.2552G>T | R851L | unclassified |
| Exon 15 | c.2556T>G | Y852X | disease-causing |
| Exon 15 | c.2559T>C | I853I (2691T/C) | unclassified |
| Exon 15 | c.2562T>C | T854T (2694T/C) | unclassified |
| Exon 15 | c.2562T>G | T854T (2694T/G) | non disease-causing |
| Exon 15 | c.2563G>A | V855I | unclassified |
| Exon 15 | c.2596T>C | C866R | unclassified |
| Exon 15 | c.2597G>A | C866Y | unclassified |
| Exon 15 | c.2598C>G | C866W | unclassified |
| Exon 15 | c.2600T>A | L867X | disease-causing |
| Exon 15 | c.2604A>G | V868V (2736G/A) | unclassified |
| Intron 15 | c.2619+3A>G | 2751+3A>G | unclassified |
| Intron 15 | c.2620-6T>C | 2752-6T->C | non disease-causing |
| Intron 15 | c.2619+62T>C | unclassified | |
| Intron 15 | c.2620-15C>G | 2752-15C/G | unclassified |
| Intron 15 | c.2620-17G>T | unclassified | |
| Intron 15 | c.2620-22A>G | 2752-22A/G | unclassified |
| Intron 15 | c.2620-26A>G | 2752-26A>G | non disease-causing |
| Intron 15 | c.2619+106T>A | unclassified | |
| Exon 16 | c.2645G>A | W882X | disease-causing |
| Intron 16 | c.2657+5G>A | 2789+5G>A | disease-causing |
| Intron 16 | c.2658-1G>C | 2790-1G>C | disease-causing |
| Intron 16 | c.2658-1G>T | 2790-1G>T | disease-causing |
| Intron 16 | c.2658-2A>G | 2790-2A>G | unclassified |
| Intron 16 | c.2657+66C>T | unclassified | |
| Intron 16 | c.2658-13A>G | unclassified | |
| Intron 16 | c.2658-21G>A | 2790-21G/A | unclassified |
| Intron 16 | c.2658-77T>A | unclassified | |
| Exon 17 | c.2668C>T | Q890X | disease-causing |
| Exon 17 | c.2669A>G | Q890R | unclassified |
| Exon 17 | c.2672A>G | D891G | unclassified |
| Exon 17 | c.2679G>T | G893G (2811G/T) | unclassified |
| Exon 17 | c.2695A>G | R899G | unclassified |
| Exon 17 | c.2699A>C | N900T | unclassified |
| Exon 17 | c.2706C>G | S902R | disease-causing |
| Exon 17 | c.2719A>G | 2851A/G | unclassified |
| Exon 17 | c.2723C>A | T908N | disease-causing |
| Exon 17 | c.2735C>A | S912X | disease-causing |
| Exon 17 | c.2735C>G | S912W | unclassified |
| Exon 17 | c.2735C>T | S912L | unclassified |
| Exon 17 | c.2739T>A | Y913X | disease-causing |
| Exon 17 | c.2743G>C | V915L | unclassified |
| Exon 17 | c.2754T>G | I918M | unclassified |
| Exon 17 | c.2756A>G | Y919C | unclassified |
| Exon 17 | c.2758G>A | V920M | unclassified |
| Exon 17 | c.2758G>T | V920L | unclassified |
| Exon 17 | c.2770G>A | D924N | unclassified |
| Exon 17 | c.2770G>C | D924H | unclassified |
| Exon 17 | c.2780T>C | L927P | disease-causing |
| Exon 17 | c.2797A>G | R933G | disease-causing |
| Exon 17 | c.2813T>G | V938G | disease-causing |
| Exon 17 | c.2816A>G | H939R | disease-causing |
| Exon 17 | c.2834C>T | S945L | disease-causing |
| Exon 17 | c.2846A>G | H949R | unclassified |
| Exon 17 | c.2846A>T | H949L | unclassified |
| Exon 17 | c.2851A>G | K951E | unclassified |
| Exon 17 | c.2855T>C | M952T | unclassified |
| Exon 17 | c.2856G>C | M952I | disease-causing |
| Exon 17 | c.2876C>T | A959V | unclassified |
| Exon 17 | c.2898G>A | T966T (3030G/A) | non disease-causing |
| Exon 17 | c.2900T>C | L967S | unclassified |
| Exon 17 | c.2908G>C | G970R | disease-causing |
| Intron 17 | c.2908+1G>A | disease-causing | |
| Intron 17 | c.2908+4C>A | unclassified | |
| Intron 17 | c.2908+19G>A | unclassified | |
| Intron 17 | c.2909-15T>C | unclassified | |
| Intron 17 | c.2909-15T>G | 3041-15T>G | disease-causing |
| Intron 17 | c.2909-36T>G | unclassified | |
| Intron 17 | c.2909-71G>C | 3041-71G/C | non disease-causing |
| Intron 17 | c.2909-92G>A | 3041-92G/A | non disease-causing |
| Exon 18 | c.2909G>A | G970D | disease-causing |
| Exon 18 | c.2909G>T | G970V | disease-causing |
| Exon 18 | c.2930C>T | S977F | disease-causing |
| Exon 18 | c.2936A>C | D979A | unclassified |
| Exon 18 | c.2936A>T | D979V | disease-causing |
| Exon 18 | c.2939T>A | I980K | disease-causing |
| Exon 18 | c.2940A>G | I980M | unclassified |
| Exon 18 | c.2946T>G | I982M | unclassified |
| Exon 18 | c.2953G>C | D985H | unclassified |
| Exon 18 | c.2953G>T | D985Y | unclassified |
| Exon 18 | c.2957T>C | L986P | unclassified |
| Exon 18 | c.2973A>G | I991M | unclassified |
| Exon 18 | c.2977G>T | D993Y | disease-causing |
| Exon 18 | c.2978A>G | D993G | unclassified |
| Exon 18 | c.2981T>G | F994C | unclassified |
| Exon 18 | c.2987A>T | Q996L | unclassified |
| Exon 18 | c.2988G>A | Q996Q (3120G/A) | disease-causing |
| Intron 18 | c.2988+1G>A | 3120+1G>A | disease-causing |
| Intron 18 | c.2989-1G>A | 3121-1G>A | disease-causing |
| Intron 18 | c.2989-2A>G | 3121-2A>G | disease-causing |
| Intron 18 | c.2989-3C>G | 3121-3C>G | unclassified |
| Intron 18 | c.2989-35G>A | unclassified | |
| Intron 18 | c.2989-69C>G | unclassified | |
| Intron 18 | c.2989-313A>T | disease-causing | |
| Intron 18 | c.2989-357C>T | unclassified | |
| Intron 18 | c.2989-422G>T | unclassified | |
| Exon 19 | c.2991G>C | L997F | disease-causing |
| Exon 19 | c.3014T>G | I1005R | unclassified |
| Exon 19 | c.3017C>A | A1006E | disease-causing |
| Exon 19 | c.3038C>A | P1013H | unclassified |
| Exon 19 | c.3038C>T | P1013L | unclassified |
| Exon 19 | c.3041A>G | Y1014C | unclassified |
| Exon 19 | c.3047T>C | F1016S | disease-causing |
| Exon 19 | c.3059T>A | V1020E | unclassified |
| Exon 19 | c.3080T>C | I1027T | unclassified |
| Exon 19 | c.3083T>G | M1028R | unclassified |
| Exon 19 | c.3095A>G | Y1032C | disease-causing |
| Exon 19 | c.3107C>A | T1036N | disease-causing |
| Exon 19 | c.3124C>T | Q1042X | disease-causing |
| Exon 19 | c.3131A>G | E1044G | unclassified |
| Intron 19 | c.3139+1G>A | 3271+1G>A | disease-causing |
| Intron 19 | c.3139+16T>A | unclassified | |
| Intron 19 | c.3139+18C>T | 3271+18C/T | non disease-causing |
| Intron 19 | c.3139+42A>T | 3271+42A/T | non disease-causing |
| Intron 19 | c.3139+89T>C | unclassified | |
| Intron 19 | c.3140-16T>A | unclassified | |
| Intron 19 | c.3140-25T>A | unclassified | |
| Intron 19 | c.3140-26A>G | 3272-26A>G | disease-causing |
| Intron 19 | c.3140-33A>G | 3272-33A/G | unclassified |
| Intron 19 | c.3140-92T>C | 3272-93T/C | non disease-causing |
| Intron 19 | c.3139+101C>G | 3271+101C/G | unclassified |
| Exon 20 | c.3148C>G | P1050A | unclassified |
| Exon 20 | c.3151A>G | I1051V | unclassified |
| Exon 20 | c.3154T>G | F1052V | disease-causing |
| Exon 20 | c.3158C>T | T1053I | unclassified |
| Exon 20 | c.3160C>G | H1054D | disease-causing |
| Exon 20 | c.3160C>T | H1054Y | unclassified |
| Exon 20 | c.3170C>G | T1057R | unclassified |
| Exon 20 | c.3179A>C | K1060T | unclassified |
| Exon 20 | c.3181G>A | G1061R | unclassified |
| Exon 20 | c.3181G>C | G1061R | disease-causing |
| Exon 20 | c.3189G>A | W1063X | disease-causing |
| Exon 20 | c.3194T>C | L1065P | disease-causing |
| Exon 20 | c.3196C>T | R1066C | disease-causing |
| Exon 20 | c.3197G>A | R1066H | disease-causing |
| Exon 20 | c.3197G>C | R1066P | disease-causing |
| Exon 20 | c.3197G>T | R1066L | disease-causing |
| Exon 20 | c.3199G>A | A1067T | unclassified |
| Exon 20 | c.3200C>T | A1067V | unclassified |
| Exon 20 | c.3205G>A | G1069R | disease-causing |
| Exon 20 | c.3208C>T | R1070W | disease-causing |
| Exon 20 | c.3209G>A | R1070Q | disease-causing |
| Exon 20 | c.3211C>T | Q1071X | disease-causing |
| Exon 20 | c.3222T>A | F1074L | unclassified |
| Exon 20 | c.3230T>C | L1077P | disease-causing |
| Exon 20 | c.3233T>C | F1078S | unclassified |
| Exon 20 | c.3238A>C | K1080Q | unclassified |
| Exon 20 | c.3241G>C | A1081P | unclassified |
| Exon 20 | c.3254A>C | H1085P | unclassified |
| Exon 20 | c.3254A>G | H1085R | disease-causing |
| Exon 20 | c.3256A>G | T1086A | unclassified |
| Exon 20 | c.3257C>T | T1086I | unclassified |
| Exon 20 | c.3262A>G | N1088D | unclassified |
| Exon 20 | c.3266G>A | W1089X | disease-causing |
| Exon 20 | c.3274T>C | Y1092H | unclassified |
| Exon 20 | c.3276C>A | Y1092X(C>A) | disease-causing |
| Exon 20 | c.3276C>G | Y1092X(C>G) | disease-causing |
| Exon 20 | c.3285A>T | T1095T (3417A/T) | unclassified |
| Exon 20 | c.3288G>A | unclassified | |
| Exon 20 | c.3290G>A | R1097H | unclassified |
| Exon 20 | c.3292T>C | W1098R | disease-causing |
| Exon 20 | c.3293G>A | W1098X(TAG) | disease-causing |
| Exon 20 | c.3294G>A | W1098X(TGA) | disease-causing |
| Exon 20 | c.3294G>C | W1098C | disease-causing |
| Exon 20 | c.3297C>A | F1099L | disease-causing |
| Exon 20 | c.3299A>C | Q1100P | unclassified |
| Exon 20 | c.3302T>A | M1101K | disease-causing |
| Exon 20 | c.3302T>G | M1101R | disease-causing |
| Exon 20 | c.3304A>T | R1102X | disease-causing |
| Exon 20 | c.3310G>T | E1104X | disease-causing |
| Exon 20 | c.3322G>C | V1108L | unclassified |
| Exon 20 | c.3340G>C | V1114L | unclassified |
| Exon 20 | c.3353C>T | S1118F | disease-causing |
| Intron 20 | c.3367+37G>A | 3499+37G/A | non disease-causing |
| Intron 20 | c.3367+45T>C | 3499+45T/C | unclassified |
| Intron 20 | c.3368-140A>C | 3500-140A/C | non disease-causing |
| Exon 21 | c.3380G>A | G1127E | unclassified |
| Exon 21 | c.3382A>G | R1128G | unclassified |
| Exon 21 | c.3382A>T | R1128X | disease-causing |
| Exon 21 | c.3406G>A | A1136T | unclassified |
| Exon 21 | c.3409A>G | M1137V | unclassified |
| Exon 21 | c.3410T>G | M1137R | disease-causing |
| Exon 21 | c.3415A>G | I1139V | disease-causing |
| Exon 21 | c.3422G>A | S1141N | unclassified |
| Exon 21 | c.3443A>G | N1148S | unclassified |
| Exon 21 | c.3454G>C | D1152H | disease-causing |
| Exon 21 | c.3458T>A | V1153E | disease-causing |
| Exon 21 | c.3460G>A | D1154N | unclassified |
| Exon 21 | c.3461A>G | D1154G | disease-causing |
| Exon 21 | c.3461A>T | D1154V | unclassified |
| Exon 21 | c.3468G>A | L1156L (3600G/A) | disease-causing |
| Intron 21 | c.3468+2T>C | 3600+2T>C | disease-causing |
| Intron 21 | c.3468+5G>A | 3600+5G>A | unclassified |
| Intron 21 | c.3468+51C>A | unclassified | |
| Intron 21 | c.3468+70T>C | unclassified | |
| Intron 21 | c.3469-17T>C | 3601-17T>C | unclassified |
| Intron 21 | c.3469-20T>C | 3601-20T>C | unclassified |
| Intron 21 | c.3469-65C>A | 3601-65C/A | non disease-causing |
| Intron 21 | c.3469-1304C>G | disease-causing | |
| Intron 21 | c.3469-1374A>C | unclassified | |
| Intron 21 | c.3469-1473A>G | unclassified | |
| Exon 22 | c.3471G>A | M1157I | unclassified |
| Exon 22 | c.3472C>T | R1158X | disease-causing |
| Exon 22 | c.3473G>T | R1158L | unclassified |
| Exon 22 | c.3475T>C | S1159P | disease-causing |
| Exon 22 | c.3476C>T | S1159F | disease-causing |
| Exon 22 | c.3484C>T | R1162X | disease-causing |
| Exon 22 | c.3485G>T | 3617G/T | disease-causing |
| Exon 22 | c.3503A>G | D1168G | unclassified |
| Exon 22 | c.3562T>C | S1188P | unclassified |
| Exon 22 | c.3587C>G | S1196X | disease-causing |
| Exon 22 | c.3590A>T | H1197L | unclassified |
| Exon 22 | c.3611G>A | W1204X(3743G>A) | disease-causing |
| Exon 22 | c.3612G>A | W1204X(3744G>A) | disease-causing |
| Exon 22 | c.3617C>A | S1206X(C>A) | disease-causing |
| Exon 22 | c.3617C>G | S1206X | disease-causing |
| Exon 22 | c.3628A>G | M1210V | unclassified |
| Exon 22 | c.3681A>G | L1227L (3813A/G) | unclassified |
| Exon 22 | c.3689T>C | I1230T | unclassified |
| Exon 22 | c.3700A>G | I1234V | disease-causing |
| Exon 22 | c.3705T>G | S1235R | unclassified |
| Exon 22 | c.3712C>T | Q1238X | disease-causing |
| Exon 22 | c.3713A>G | Q1238R | unclassified |
| Exon 22 | c.3717G>A | 3849G>A | disease-causing |
| Intron 22 | c.3717+1G>A | 3849+ 1G- >A | disease-causing |
| Intron 22 | c.3717+4A>G | 3849+4A>G | disease-causing |
| Intron 22 | c.3718-1G>A | 3850-1G>A | disease-causing |
| Intron 22 | c.3717+40A>G | 3849+40A>G | disease-causing |
| Intron 22 | c.3717+45G>A | 3849+45G>A | unclassified |
| Intron 22 | c.3717+68A>G | unclassified | |
| Intron 22 | c.3718-24G>A | unclassified | |
| Intron 22 | c.3718-48A>G | unclassified | |
| Intron 22 | c.3718-79T>C | 3850-79T/C | unclassified |
| Intron 22 | c.3718-2477C>T | 3849+10kbC>T | disease-causing |
| Intron 22 | c.3718-2487A>T | unclassified | |
| Exon 23 | c.3719T>G | V1240G | disease-causing |
| Exon 23 | c.3731G>A | G1244E | disease-causing |
| Exon 23 | c.3737C>T | T1246I | disease-causing |
| Exon 23 | c.3745G>A | G1249R | disease-causing |
| Exon 23 | c.3746G>A | G1249E | disease-causing |
| Exon 23 | c.3752G>A | S1251N | disease-causing |
| Exon 23 | c.3754A>C | T1252P | unclassified |
| Exon 23 | c.3806T>A | I1269N | disease-causing |
| Exon 23 | c.3808G>A | D1270N | disease-causing |
| Exon 23 | c.3822G>A | W1274X | disease-causing |
| Exon 23 | c.3824A>T | D1275V | unclassified |
| Exon 23 | c.3837G>A | L1279L (3969G/A) | unclassified |
| Exon 23 | c.3838C>T | Q1280X | disease-causing |
| Exon 23 | c.3844T>C | W1282R | unclassified |
| Exon 23 | c.3846G>A | W1282X | disease-causing |
| Exon 23 | c.3846G>T | W1282C | unclassified |
| Exon 23 | c.3848G>T | R1283M | unclassified |
| Exon 23 | c.3849G>C | R1283S(G->C) | unclassified |
| Exon 23 | c.3849G>T | R1283S(G->T) | unclassified |
| Exon 23 | c.3854C>G | A1285G | unclassified |
| Exon 23 | c.3854C>T | A1285V | unclassified |
| Exon 23 | c.3857T>C | F1286S | disease-causing |
| Exon 23 | c.3868C>A | P1290T | unclassified |
| Exon 23 | c.3870A>G | P1290P (4002A/G) | non disease-causing |
| Exon 23 | c.3872A>G | Q1291R | disease-causing |
| Intron 23 | c.3873+1G>A | 4005+1G>A | disease-causing |
| Intron 23 | c.3874-1G>A | disease-causing | |
| Intron 23 | c.3874-4A>G | 4006-4A>G | unclassified |
| Intron 23 | c.3874-14C>G | 4006- 14C- >G | unclassified |
| Intron 23 | c.3874-71A>G | unclassified | |
| Intron 23 | c.3873+112A>C | unclassified | |
| Intron 23 | c.3874-105T>G | non disease-causing | |
| Intron 23 | c.3874-172C>G | unclassified | |
| Intron 23 | c.3874-200G>A | 4006-200G/A | non disease-causing |
| Intron 23 | c.3874-4522A>G | disease-causing | |
| Exon 24 | c.3878T>G | V1293G | unclassified |
| Exon 24 | c.3896C>T | T1299I | unclassified |
| Exon 24 | c.3897A>G | T1299T (4029A/G) | non disease-causing |
| Exon 24 | c.3907A>C | N1303H | unclassified |
| Exon 24 | c.3908A>T | N1303I | disease-causing |
| Exon 24 | c.3909C>G | N1303K | disease-causing |
| Exon 24 | c.3915T>A | D1305E | unclassified |
| Exon 24 | c.3923A>C | E1308A | unclassified |
| Exon 24 | c.3927G>T | Q1309H | unclassified |
| Exon 24 | c.3935A>G | D1312G | unclassified |
| Exon 24 | c.3937C>A | Q1313K | unclassified |
| Exon 24 | c.3937C>T | Q1313X | disease-causing |
| Exon 24 | c.3953T>C | V1318A | unclassified |
| Intron 24 | c.3963+2T>A | 4095+ 2T- >A | disease-causing |
| Intron 24 | c.3964-3C>G | 4096-3C>G | disease-causing |
| Intron 24 | c.3963+47A>T | unclassified | |
| Intron 24 | c.3963+69A>G | non disease-causing | |
| Intron 24 | c.3964-93T>G | unclassified | |
| Intron 24 | c.3964-283T>C | 4096-283T/C | non disease-causing |
| Exon 25 | c.3971T>C | L1324P | unclassified |
| Exon 25 | c.3983T>C | I1328T | unclassified |
| Exon 25 | c.4004T>C | L1335P | disease-causing |
| Exon 25 | c.4015C>T | L1339F | unclassified |
| Exon 25 | c.4027G>A | G1343S | unclassified |
| Exon 25 | c.4046G>A | G1349D | disease-causing |
| Exon 25 | c.4051A>T | K1351X | disease-causing |
| Exon 25 | c.4054C>T | Q1352X | disease-causing |
| Exon 25 | c.4056G>C | Q1352H(G>C) | disease-causing |
| Exon 25 | c.4056G>T | Q1352H(G>T) | unclassified |
| Exon 25 | c.4061T>C | M1354T | unclassified |
| Exon 25 | c.4064G>T | C1355F | unclassified |
| Exon 25 | c.4085G>A | S1362N | unclassified |
| Exon 25 | c.4091C>T | A1364V | unclassified |
| Exon 25 | c.4097T>A | I1366N | disease-causing |
| Exon 25 | c.4097T>C | I1366T | disease-causing |
| Exon 25 | c.4124A>C | H1375P | disease-causing |
| Exon 25 | c.4124A>G | H1375R | unclassified |
| Exon 25 | c.4127T>C | L1376S | unclassified |
| Exon 25 | c.4129G>C | D1377H | disease-causing |
| Intron 25 | c.4136+5G>A | disease-causing | |
| Intron 25 | c.4137-89A>G | unclassified | |
| Intron 25 | c.4137-94T>A | unclassified | |
| Intron 25 | c.4137-116G>T | unclassified | |
| Intron 25 | c.4137-136A>G | unclassified | |
| Intron 25 | c.4137-139G>A | 4269-139G/A | non disease-causing |
| Exon 26 | c.4139C>T | T1380I | unclassified |
| Exon 26 | c.4144C>T | Q1382X | disease-causing |
| Exon 26 | c.4147A>G | I1383V | unclassified |
| Exon 26 | c.4168C>T | Q1390X | disease-causing |
| Exon 26 | c.4186A>C | T1396P | unclassified |
| Exon 26 | c.4188A>G | T1396T (4320A/G) | unclassified |
| Exon 26 | c.4202A>G | E1401G | unclassified |
| Exon 26 | c.4220T>C | M1407T | unclassified |
| Exon 26 | c.4224G>A | 4356G/A | unclassified |
| Exon 26 | c.4225G>A | E1409K | unclassified |
| Exon 26 | c.4231C>T | Q1411X | disease-causing |
| Exon 26 | c.4234C>T | Q1412X | disease-causing |
| Intron 26 | c.4242+1G>A | 4374+1G>A | disease-causing |
| Intron 26 | c.4243-2A>C | unclassified | |
| Intron 26 | c.4242+13A>G | 4374+13A/G | non disease-causing |
| Intron 26 | c.4242+65G>A | unclassified | |
| Intron 26 | c.4242+71G>T | unclassified | |
| Intron 26 | c.4243-16A>G | unclassified | |
| Intron 26 | c.4243-20A>G | unclassified | |
| Intron 26 | c.4243-35del | 4375-36delT | unclassified |
| Exon 27 | c.4264C>T | R1422W | unclassified |
| Exon 27 | c.4272C>T | Y1424Y (4404C/T) | non disease-causing |
| Exon 27 | c.4275T>A | D1425E | unclassified |
| Exon 27 | c.4276T>C | S1426P | disease-causing |
| Exon 27 | c.4277C>T | S1426F | unclassified |
| Exon 27 | c.4297G>A | E1433K | unclassified |
| Exon 27 | c.4357C>T | R1453W | unclassified |
| Exon 27 | c.4364C>G | S1455X | disease-causing |
| Exon 27 | c.4389G>A | Q1463Q (4521G/A) | non disease-causing |
| Exon 27 | c.4417G>T | E1473X | unclassified |
| Exon 27 | c.4426C>T | Q1476X | disease-causing |
| Exon 27 | c.4439T>C | L1480P | unclassified |
| UTR 3 | c.*1251C>T | unclassified | |
| UTR 3 | c.*133T>A | unclassified | |
| UTR 3 | c.*2G>C | unclassified | |
| UTR 3 | c.*47G>T | unclassified | |
| UTR 3 | c.4442A>G | unclassified |