5 flanking | c.-13413_2982-344del | p.0 | c.-13413_2982-344del | Pathogenic | VALIDATED |
| | 2015-11-15 | 2020-07-21 |
5 flanking | c.-7026_-40+2300del | p.? | c.-7026_-40+2300del | Likely pathogenic | VALIDATED |
| | 2017-11-16 | 2020-08-27 |
5 flanking | c.-6831_-39-1586del | p.0 | c.-6831_-39-1586del | Pathogenic | VALIDATED |
| | 2020-08-31 | 2021-02-16 |
5 flanking | c.-3998_2130-668del | p.? | c.-3998_2130-668del | Pathogenic | VALIDATED |
| | 2015-11-15 | 2021-05-26 |
5 flanking | c.-122G>A | p.? | c.-122G>A | Not classified | To be validated |
| | 2012-02-29 | |
intron 1 | c.-40+3G>C | p.0 | c.-40+3G>C | Uncertain significance (VUS) | VALIDATED |
| | 2020-08-31 | 2021-02-16 |
intron 1 | c.-40+21C>T | p.? | c.-40+21C>T | Not classified | To be validated |
| | 2008-03-07 | 2012-03-29 |
intron 1 | c.-40+34T>G | p.? | c.-40+34T>G | Not classified | To be validated |
| | 2012-10-17 | 2012-10-18 |
intron 1 | c.-40+36C>T | p.? | c.-40+36C>T | Not classified | To be validated |
| | 2008-03-07 | 2012-03-29 |
intron 1 | c.-40+121G>A | p.? | c.-40+121G>A | Not classified | To be validated |
| | 2012-02-29 | 2012-03-29 |
intron 1 | c.-40+251_2130-681del | p.? | c.-40+251_2130-681del | Pathogenic | VALIDATED |
| | 2015-11-15 | 2020-08-27 |
intron 1 | c.-39-1769_2129+228del | p.? | c.-39-1769_2129+228del | Pathogenic | VALIDATED |
| | 2015-11-27 | 2020-08-27 |
intron 1 | c.-39-792C>T | p.? | c.-39-792C>T | Not classified | To be validated |
| | 2008-07-11 | 2012-03-29 |
intron 1 | c.-39-427T>C | p.? | c.-39-427T>C | Not classified | To be validated |
| | 2008-03-01 | 2012-03-29 |
intron 1 | c.-39-393G>A | p.? | c.-39-393G>A | Not classified | To be validated |
| | 2008-03-01 | 2012-03-29 |
intron 1 | c.-39-387_2129+265dup | p.(Glu710Aspfs*7) | E710Dfs7X | Pathogenic | VALIDATED |
| | 2007-12-26 | 2020-04-12 |
intron 1 | c.-39-300C>T | p.? | c.-39-300C>T | Not classified | To be validated |
| | 2008-03-07 | 2012-03-29 |
intron 1 | c.-39-231_2130-510del | p.0 | c.-39-231_2130-510del | Pathogenic | VALIDATED |
| | 2014-09-22 | 2020-07-24 |
intron 1 | c.-39-90G>C | p.? | c.-39-90G>C | Not classified | To be validated |
| | 2008-07-11 | 2012-03-29 |
intron 1 | c.-39-16C>T | p.? | c.-39-16C>T | Not classified | To be validated |
| | 2008-01-03 | 2012-03-29 |
exon 2 | c.183delC | p.(Ser62Profs*6) | T61TfsX7 | Pathogenic | VALIDATED |
| | 2009-03-23 | 2021-05-26 |
exon 2 | c.197G>A | p.(Trp66*) | W66* | Pathogenic | VALIDATED |
| | 2016-05-05 | 2020-04-12 |
exon 2 | c.219C>T | p.(Asn73=) | N73N | Likely benign | VALIDATED |
| | 2009-06-17 | 2010-07-20 |
exon 2 | c.251G>A | p.(Cys84Tyr) | C84Y | Uncertain significance (VUS) | VALIDATED |
| | 2007-08-15 | 2009-08-29 |
intron 2 | c.277+1G>C | p.? | c.277+1G>C | Pathogenic | VALIDATED |
| | 2011-09-02 | 2020-07-06 |
intron 2 | c.278-134C>T | p.? | c.278-134C>T | Not classified | To be validated |
| | 2014-09-16 | 2014-09-17 |
intron 2 | c.278-68A>G | p.? | c.278-68A>G | Not classified | To be validated |
| | 2012-06-28 | 2012-06-28 |
exon 3 | c.295G>T | p.(Glu99*) | E99X | Likely pathogenic | VALIDATED |
| | 2007-05-28 | 2020-04-12 |
exon 3 | c.337dupG | p.(Glu113Glyfs*7) | E113GfsX7 | Pathogenic | VALIDATED |
| | 2009-03-23 | 2020-04-12 |
exon 3 | c.346A>T | p.(Lys116*) | K116X | Pathogenic | VALIDATED |
| | 2009-04-03 | 2020-08-27 |
intron 3 | c.352+1G>A | p.(Gly118Aspfs*3) | IVS3+1G>A | Pathogenic | VALIDATED |
| | 2006-08-10 | 2021-05-26 |
intron 3 | c.352+231G>A | p.? | c.352+231G>A | Not classified | To be validated |
| | 2008-07-11 | 2019-06-18 |
intron 3 | c.353-235C>T | p.? | c.353-235C>T | Not classified | To be validated |
| | 2008-07-11 | 2008-08-06 |
intron 3 | c.353-231C>A | p.? | c.353-231C>A | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
intron 3 | c.353-227A>G | p.? | c.353-227A>G | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
intron 3 | c.353-216C>G | p.? | c.353-216C>G | Not classified | To be validated |
| | 2008-03-01 | |
intron 3 | c.353-178A>G | p.? | c.353-178A>G | Not classified | To be validated |
| | 2008-03-01 | |
intron 3 | c.353-111C>T | p.? | c.353-111C>T | Not classified | To be validated |
| | 2008-03-05 | |
intron 3 | c.353-71C>T | p.? | c.353-71C>T | Not classified | To be validated |
| | 2008-05-16 | |
intron 3 | c.353-56A>G | p.? | c.353-56A>G | Not classified | To be validated |
| | 2008-01-03 | |
intron 3 | c.353-52T>G | p.? | c.353-52T>G | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
exon 4 | c.390G>A | p.(Gln130=) | Q130Q | Benign | VALIDATED |
| | 2006-08-11 | 2008-03-07 |
exon 4 | c.394_395del | p.(Leu132Glyfs*12) | L132Gfs*12 | Pathogenic | VALIDATED |
| | 2017-11-15 | 2020-04-12 |
exon 4 | c.418C>T | p.(Gln140*) | Q140* | Pathogenic | VALIDATED |
| | 2017-11-16 | 2020-04-12 |
exon 4 | c.446A>G | p.(Asp149Gly) | D149G | Uncertain significance (VUS) | VALIDATED |
| | 2012-10-30 | 2020-06-12 |
exon 4 | c.467G>A | p.(Arg156Gln) | R156Q | Likely benign | VALIDATED |
| | 2008-07-11 | 2021-05-26 |
exon 4 | c.544G>A | p.(Val182Met) | V182M | Uncertain significance (VUS) | VALIDATED |
| | 2011-10-30 | 2021-05-26 |
exon 4 | c.555_557del | p.(Thr185del) | T185del | Likely pathogenic | VALIDATED |
| | 2020-03-30 | 2020-11-24 |
exon 4 | c.574A>C | p.(Met192Leu) | M192L | Uncertain significance (VUS) | PROVISIONAL |
| | 2008-07-11 | 2009-02-07 |
exon 4 | c.584G>A | p.(Trp195*) | W195X | Pathogenic | VALIDATED |
| | 2015-11-27 | 2020-08-27 |
exon 4 | c.603C>T | p.(Ser201=) | S201S | Likely benign | VALIDATED |
| | 2007-10-31 | 2008-09-11 |
exon 4 | c.628C>T | p.(Leu210Phe) | L210F | Uncertain significance (VUS) | VALIDATED |
| | 2011-03-04 | 2011-03-04 |
exon 4 | c.660dupC | p.(Cys221Leufs*13) | C221Lfs*13 | Likely pathogenic | To be validated |
| | 2024-07-30 | 2024-08-12 |
exon 4 | c.693G>A | p.(Trp231*) | W231X | Pathogenic | VALIDATED |
| | 2012-07-14 | 2020-04-12 |
exon 4 | c.701T>C | p.(Leu234Ser) | L234S | Uncertain significance (VUS) | VALIDATED |
| | 2010-02-03 | 2021-05-26 |
exon 4 | c.749T>G | p.(Phe250Cys) | F250C | Uncertain significance (VUS) | VALIDATED |
| | 2010-07-22 | |
exon 4 | c.750C>A | p.(Phe250Leu) | F250L | Uncertain significance (VUS) | VALIDATED |
| | 2010-04-06 | 2021-05-26 |
exon 4 | c.829A>C | p.(Lys277Gln) | K277Q | Uncertain significance (VUS) | VALIDATED |
| | 2008-07-11 | 2010-08-27 |
exon 4 | c.835G>T | p.(Val279Leu) | V279L | Uncertain significance (VUS) | VALIDATED |
| | 2012-10-30 | 2020-08-27 |
exon 4 | c.915A>C | p.(Ala305=) | A305A | Likely benign | VALIDATED |
| | 2009-06-17 | 2009-08-29 |
exon 4 | c.929A>G | p.(Gln310Arg) | Q310R | Likely benign | VALIDATED |
| | 2010-07-22 | 2010-08-20 |
exon 4 | c.930G>T | p.(Leu311His) | L311H | Uncertain significance (VUS) | VALIDATED |
| | 2010-07-22 | 2010-08-20 |
exon 4 | c.930_931delGC | p.(Gln310Hisfs*38) | Q310Hfs*38 | Pathogenic | VALIDATED |
| | 2009-07-02 | 2020-04-12 |
exon 4 | c.931C>A | p.(Leu311Ile) | L311I | Likely benign | VALIDATED |
| | 2010-07-22 | 2021-05-26 |
exon 4 | c.939del | p.(Gln314Serfs*6) | Q314fs | Likely pathogenic | To be validated |
| | 2024-06-06 | 2024-06-07 |
exon 4 | c.939_952dup14 | p.(Tyr318Cysfs*7) | Y318CfsX7 | Pathogenic | VALIDATED |
| | 2009-03-23 | 2021-05-26 |
exon 4 | c.955G>A | p.(Val319Ile) | V319I | Benign | VALIDATED |
| | 2006-08-25 | 2008-03-02 |
exon 4 | c.986G>A | p.(Arg329Lys) | R329K | Uncertain significance (VUS) | PROVISIONAL |
| | 2007-11-21 | 2020-07-06 |
exon 4 | c.1017C>T | p.(Asp339=) | D339D | Likely benign | VALIDATED |
| | 2012-03-07 | |
exon 4 | c.1018G>A | p.(Glu340Lys) | E340K | Uncertain significance (VUS) | VALIDATED |
| | 2011-01-12 | 2021-05-26 |
exon 4 | c.1018_1020delinsCAAAA | p.(Glu340Glnfs*11) | E340Qfs*11 | Pathogenic | VALIDATED |
| | 2011-03-04 | 2020-07-06 |
exon 4 | c.1104T>C | p.(Ile368=) | I368I | Likely benign | VALIDATED |
| | 2009-06-17 | 2009-06-21 |
exon 4 | c.1104T>G | p.(Ile368Met) | I368M | Uncertain significance (VUS) | VALIDATED |
| | 2011-01-13 | 2017-08-11 |
exon 4 | c.1137G>A | p.(Lys379=) | K379K | Benign | VALIDATED |
| | 2006-08-11 | 2009-02-07 |
exon 4 | c.1137G>C | p.(Lys379Asn) | K379N | Likely benign | VALIDATED |
| | 2007-08-15 | 2009-06-26 |
exon 4 | c.1138G>C | p.(Gly380Arg) | G380R | Uncertain significance (VUS) | PROVISIONAL |
| | 2009-04-03 | 2020-08-27 |
exon 4 | c.1148C>T | p.(Pro383Leu) | P383L | Uncertain significance (VUS) | VALIDATED |
| | 2012-10-30 | 2020-08-27 |
exon 4 | c.1168del | p.(Arg390Alafs*26) | R390Afs*26 | Likely pathogenic | VALIDATED |
| | 2017-11-16 | 2020-04-12 |
exon 4 | c.1169G>A | p.(Arg390His) | R390H | Uncertain significance (VUS) | VALIDATED |
| | 2009-02-04 | 2021-05-26 |
exon 4 | c.1171A>G | p.(Thr391Ala) | T391A | Uncertain significance (VUS) | VALIDATED |
| | 2012-10-30 | 2020-08-27 |
exon 4 | c.1182C>T | p.(Phe394=) | F394F | Likely benign | VALIDATED |
| | 2009-07-28 | 2010-11-29 |
exon 4 | c.1193T>G | p.(Leu398Arg) | L398R | Likely pathogenic | VALIDATED |
| | 2009-03-23 | 2021-05-26 |
exon 4 | c.1196G>A | p.(Cys399Tyr) | C399Y | Uncertain significance (VUS) | VALIDATED |
| | 2007-08-15 | 2021-05-26 |
exon 4 | c.1235T>C | p.(Leu412Pro) | L412P | Uncertain significance (VUS) | VALIDATED |
| | 2012-10-30 | 2020-08-27 |
exon 4 | c.1237C>T | p.(Arg413Trp) | R413W | Uncertain significance (VUS) | VALIDATED |
| | 2011-01-12 | 2021-05-26 |
exon 4 | c.1238G>A | p.(Arg413Gln) | R413Q | Uncertain significance (VUS) | VALIDATED |
| | 2012-02-23 | 2012-02-23 |
exon 4 | c.1280T>C | p.(Met427Thr) | M427T | Uncertain significance (VUS) | VALIDATED |
| | 2009-02-04 | 2022-01-24 |
exon 4 | c.1288T>C | p.(Phe430Leu) | F430L | Uncertain significance (VUS) | VALIDATED |
| | 2009-03-03 | 2010-07-20 |
exon 4 | c.1290C>T | p.(Phe430=) | F430F | Likely benign | VALIDATED |
| | 2009-02-04 | 2009-02-06 |
exon 4 | c.1294C>T | p.(Arg432*) | R432X | Pathogenic | VALIDATED |
| | 2008-07-11 | 2021-05-26 |
exon 4 | c.1302C>T | p.(Asp434=) | D434D | Likely benign | VALIDATED |
| | 2009-02-04 | 2010-02-25 |
exon 4 | c.1305G>T | p.(Leu435=) | L435L | Likely benign | VALIDATED |
| | 2012-02-29 | |
exon 4 | c.1362C>T | p.(Leu454=) | L454L | Likely benign | VALIDATED |
| | 2011-01-26 | 2021-05-26 |
exon 4 | c.1374_1375delAG | p.(Arg458Serfs*69) | R458Sfs*69 | Pathogenic | VALIDATED |
| | 2014-04-01 | 2020-06-18 |
exon 4 | c.1392C>G | p.(Tyr464*) | Y464* | Pathogenic | VALIDATED |
| | 2019-04-10 | 2020-08-27 |
exon 4 | c.1414C>T | p.(Gln472*) | Q472* | Likely pathogenic | To be validated |
| | 2024-07-30 | 2024-08-12 |
exon 4 | c.1441G>A | p.(Ala481Thr) | A481T | Benign | VALIDATED |
| | 2007-10-17 | 2008-11-06 |
exon 4 | c.1456dupG | p.(Glu486Glyfs*42) | E486GfsX42 | Pathogenic | VALIDATED |
| | 2009-04-03 | 2020-08-27 |
exon 4 | c.1460G>A | p.(Gly487Glu) | G487E | Benign | VALIDATED |
| | 2007-10-23 | 2010-02-25 |
exon 4 | c.1480G>A | p.(Ala494Thr) | A494T | Uncertain significance (VUS) | VALIDATED |
| | 2011-10-30 | 2021-05-26 |
exon 4 | c.1491C>T | p.(Ile497=) | I497I | Benign | VALIDATED |
| | 2007-10-17 | 2008-02-28 |
exon 4 | c.1492G>A | p.(Gly498Arg) | G498R | Uncertain significance (VUS) | VALIDATED |
| | 2009-02-04 | 2021-05-26 |
exon 4 | c.1516G>T | p.(Gly506*) | G506* | Likely pathogenic | VALIDATED |
| | 2017-11-16 | 2020-04-12 |
exon 4 | c.1517_1518ins22 | p.(Glu508Aspfs*27) | E508DfsX27 | Pathogenic | VALIDATED |
| | 2013-06-25 | 2021-05-26 |
exon 4 | c.1532A>G | p.(Lys511Arg) | K511R | Benign | VALIDATED |
| | 2008-05-16 | 2021-05-26 |
exon 4 | c.1533del | p.(Asn512Thrfs*4) | N512fs | Likely pathogenic | To be validated |
| | 2024-06-06 | 2024-06-07 |
exon 4 | c.1537C>T | p.(Pro513Ser) | P513S | Uncertain significance (VUS) | VALIDATED |
| | 2012-03-07 | 2013-03-01 |
exon 4 | c.1557del | p.(His520Thrfs*46) | H520Tfs*46 | Pathogenic | VALIDATED |
| | 2017-11-16 | 2020-04-12 |
exon 4 | c.1565_1566ins[[AF15169.2:g.106_419];1548_1565] | p.? | c.1548_1566dup;1566_1567insAF15169.2:g.106_419] | Pathogenic | VALIDATED |
| | 2017-11-16 | 2020-08-27 |
exon 4 | c.1614T>A | p.(Phe538Leu) | F538L | Not classified | To be validated |
| | 2021-01-11 | |
exon 4 | c.1625_1700del | p.(Met542Thrfs*2) | M542Tfs | Likely pathogenic | VALIDATED |
| | 2010-04-06 | 2020-11-22 |
exon 4 | c.1708G>T | p.(Glu570*) | E570X | Pathogenic | VALIDATED |
| | 2009-01-28 | 2021-05-26 |
exon 4 | c.1720dup | p.(Cys574Leufs*4) | c.1719_1720insT | Pathogenic | VALIDATED |
| | 2020-08-31 | 2020-11-24 |
exon 4 | c.1725G>T | p.(Leu575=) | L575L | Benign | VALIDATED |
| | 2007-10-23 | 2008-02-28 |
exon 4 | c.1738G>T | p.(Glu580*) | E580* | Pathogenic | VALIDATED |
| | 2020-09-03 | 2020-10-27 |
exon 4 | c.1770G>A | p.(Pro590=) | P590P | Likely benign | VALIDATED |
| | 2012-06-27 | 2021-05-26 |
exon 4 | c.1812_1837dup | p.(His613Argfs*8) | H613Rfs*8 | Likely pathogenic | VALIDATED |
| | 2019-04-10 | 2021-02-16 |
exon 4 | c.1823C>T | p.(Ser608Phe) | S608F | Uncertain significance (VUS) | VALIDATED |
| | 2012-10-30 | 2022-01-19 |
exon 4 | c.1857_1858del | p.(Lys619Asnfs*18) | K619Nfs*18 | Pathogenic | VALIDATED |
| | 2020-08-31 | 2020-11-24 |
exon 4 | c.1861_1862del | p.(Ser621Thrfs*16) | S621Tfs*16 | Pathogenic | VALIDATED |
| | 2020-09-03 | 2020-11-22 |
exon 4 | c.1908dup | p.(Glu637*) | E637* | Likely pathogenic | VALIDATED |
| | 2015-10-22 | 2020-04-12 |
intron 4 | c.1931+18A>T | p.? | c.1931+18A>T | Not classified | To be validated |
| | 2008-07-11 | 2008-08-06 |
intron 4 | c.1931+43C>T | p.? | c.1931+43C>T | Not classified | To be validated |
| | 2008-07-11 | |
intron 4 | c.1931+49C>T | p.? | c.1931+49C>T | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
intron 4 | c.1931+110T>C | p.? | c.1931+110T>C | Not classified | To be validated |
| | 2008-07-11 | 2008-09-11 |
intron 4 | c.1931+176G>T | p.? | c.1931+176G>T | Not classified | To be validated |
| | 2008-07-11 | 2008-09-18 |
intron 4 | c.1931+226C>G | p.? | c.1931+226C>G | Not classified | To be validated |
| | 2008-07-11 | 2008-09-18 |
intron 4 | c.1932-296A>T | p.? | c.1932-296A>T | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
intron 4 | c.1932-178delT | p.? | c.1932-178delT | Not classified | To be validated |
| | 2008-03-01 | 2009-07-02 |
intron 4 | c.1932-146C>T | p.? | c.1932-146C>T | Not classified | To be validated |
| | 2008-03-01 | 2008-03-02 |
intron 4 | c.1932-103G>C | p.? | c.1932-103G>C | Not classified | To be validated |
| | 2008-03-01 | 2008-03-02 |
intron 4 | c.1932-71A>G | p.? | c.1932-71A>G | Not classified | To be validated |
| | 2012-03-07 | |
intron 4 | c.1932-57T>C | p.? | c.1932-57T>C | Not classified | To be validated |
| | 2008-03-01 | 2008-03-02 |
intron 4 | c.1932-53C>T | p.? | c.1932-53C>T | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
exon 5 | c.1951C>T | p.(Pro651Ser) | P651S | Pathogenic | VALIDATED |
| | 2009-03-23 | 2021-05-26 |
exon 5 | c.1959G>A | p.(Trp653*) | W653* | Pathogenic | VALIDATED |
| | 2021-06-18 | 2021-07-08 |
exon 5 | c.1970A>T | p.(Asp657Val) | D657V | Pathogenic | VALIDATED |
| | 2007-05-28 | 2021-05-26 |
exon 5 | c.1976G>T | p.(Arg659Leu) | R659L | Not classified | To be validated |
| | 2012-02-15 | 2021-05-26 |
exon 5 | c.1981C>T | p.(Leu661Phe) | L661F | Uncertain significance (VUS) | VALIDATED |
| | 2013-10-12 | 2020-04-12 |
exon 5 | c.2002T>C | p.(Cys668Arg) | C668R | Uncertain significance (VUS) | VALIDATED |
| | 2017-11-15 | 2020-04-12 |
exon 5 | c.2018C>G | p.(Ser673*) | S673X | Pathogenic | VALIDATED |
| | 2009-04-03 | 2020-08-27 |
exon 5 | c.2024G>C | p.(Ser675Thr) | S675T | Uncertain significance (VUS) | VALIDATED |
| | 2009-06-17 | 2021-05-26 |
exon 5 | c.2030delT | p.(Leu677Profs*6) | L677PfsX6 | Pathogenic | VALIDATED |
| | 2009-03-24 | 2021-05-26 |
exon 5 | c.2077C>G | p.(Arg693Gly) | R693G | Likely pathogenic | VALIDATED |
| | 2009-02-10 | 2021-05-26 |
exon 5 | c.2077C>T | p.(Arg693Trp) | R693W | Pathogenic | VALIDATED |
| | 2006-08-10 | 2020-04-12 |
exon 5 | c.2078G>C | p.(Arg693Pro) | R693P | Pathogenic | VALIDATED |
| | 2006-08-10 | 2021-05-26 |
exon 5 | c.2078G>A | p.(Arg693Gln) | R693Q | Pathogenic | VALIDATED |
| | 2008-12-06 | 2021-05-26 |
exon 5 | c.2094C>T | p.(His698=) | H698H | Likely benign | VALIDATED |
| | 2008-06-23 | |
exon 5 | c.2095G>A | p.(Val699Ile) | V699I | Likely benign | VALIDATED |
| | 2009-06-17 | 2009-06-21 |
exon 5 | c.2101C>T | p.(Arg701Cys) | R701C | Uncertain significance (VUS) | VALIDATED |
| | 2008-07-11 | 2021-05-26 |
exon 5 | c.2111G>A | p.(Cys704Tyr) | C704Y | Likely pathogenic | VALIDATED |
| | 2020-07-03 | 2020-11-24 |
intron 5 | c.2129+6T>C | p.? | c.2129+6T>C | Not classified | To be validated |
| | 2008-05-16 | 2013-02-04 |
intron 5 | c.2129+38G>C | p.? | c.2129+38G>C | Not classified | To be validated |
| | 2008-03-01 | 2008-03-02 |
intron 5 | c.2129+214C>T | p.? | c.2129+214C>T | Not classified | To be validated |
| | 2008-07-11 | 2008-09-18 |
intron 5 | c.2129+313C>G | p.? | c.2129+313C>G | Not classified | To be validated |
| | 2008-07-11 | 2008-09-18 |
intron 5 | c.2129+399G>A | p.? | c.2129+399G>A | Not classified | To be validated |
| | 2008-07-11 | 2008-09-18 |
intron 5 | c.2129+432T>C | p.? | c.2129+432T>C | Not classified | To be validated |
| | 2008-07-11 | 2008-09-18 |
intron 5 | c.2129+451C>T | p.? | c.2129+451C>T | Not classified | To be validated |
| | 2008-07-11 | 2008-09-18 |
intron 5 | c.2130-718G>A | p.? | c.2130-718G>A | Not classified | To be validated |
| | 2008-07-11 | 2008-09-18 |
intron 5 | c.2130-312_2300+736del | p.? | c.2130-312_2300+737del1218 | Pathogenic | VALIDATED |
| | 2010-04-06 | 2020-10-27 |
intron 5 | c.2130-304C>G | p.? | c.2130-304C>G | Not classified | To be validated |
| | 2008-07-11 | 2008-09-18 |
intron 5 | c.2130-266_2300+782del | p.(Ile711_Arg767del) | c.2130-266_2300+782del | Pathogenic | VALIDATED |
| | 2014-09-24 | 2020-09-02 |
intron 5 | c.2130-184delT | p.? | c.2130-184delT | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
intron 5 | c.2130-57A>G | p.? | c.2130-57A>G | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
intron 5 | c.2130-41T>G | p.? | c.2130-41T>G | Not classified | To be validated |
| | 2008-03-01 | 2008-03-02 |
intron 5 | c.2130-7_2131del | p.Ile711_Arg767del | c.2130-6_2132del | Likely pathogenic | VALIDATED |
| | 2014-09-22 | 2021-05-26 |
intron 5 | c.2130-2A>G | p.? | c.2130-2A>G | Likely pathogenic | VALIDATED |
| | 2013-06-25 | 2020-07-06 |
exon 6 | c.2140G>A | p.(Val714Ile) | V714I | Uncertain significance (VUS) | VALIDATED |
| | 2012-10-30 | 2020-08-27 |
exon 6 | c.2146C>G | p.(Pro716Ala) | P716A | Likely pathogenic | VALIDATED |
| | 2009-03-23 | 2021-05-26 |
exon 6 | c.2146C>T | p.(Pro716Ser) | P716S | Likely pathogenic | To be validated |
| | 2024-07-30 | 2024-08-12 |
exon 6 | c.2147delC | p.(Pro716Leufs*21) | P716LfsX21 | Pathogenic | VALIDATED |
| | 2009-03-23 | 2021-05-26 |
exon 6 | c.2156C>T | p.(Ala719Val) | A719V | Uncertain significance (VUS) | VALIDATED |
| | 2008-07-07 | 2021-05-26 |
exon 6 | c.2161C>T | p.(Arg721Trp) | R721W | Pathogenic | VALIDATED |
| | 2008-06-23 | 2020-04-12 |
exon 6 | c.2162G>A | p.(Arg721Gln) | R721Q | Pathogenic | VALIDATED |
| | 2009-12-17 | 2020-07-03 |
exon 6 | c.2165A>G | p.(Asp722Gly) | D722G | Uncertain significance (VUS) | VALIDATED |
| | 2008-07-11 | 2021-05-26 |
exon 6 | c.2204A>C | p.(His735Pro) | H735P | Uncertain significance (VUS) | PROVISIONAL |
| | 2019-04-10 | 2022-01-24 |
exon 6 | c.2226C>T | p.(Ile742=) | I742I | Likely benign | VALIDATED |
| | 2012-10-17 | 2021-05-26 |
exon 6 | c.2227G>T | p.(Glu743*) | E743* | Pathogenic | VALIDATED |
| | 2017-11-16 | 2020-04-12 |
exon 6 | c.2248C>G | p.(Leu750Val) | L750V | Pathogenic | VALIDATED |
| | 2007-12-25 | 2021-05-26 |
exon 6 | c.2282G>A | p.(Cys761Tyr) | C761Y | Uncertain significance (VUS) | VALIDATED |
| | 2009-03-23 | 2021-05-26 |
intron 6 | c.2300+12G>A | p.? | c.2300+12G>A | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
intron 6 | c.2300+17C>A | p.? | c.2300+17C>A | Not classified | To be validated |
| | 2008-01-03 | |
intron 6 | c.2300+34T>C | p.? | c.2300+34T>C | Not classified | To be validated |
| | 2008-01-03 | |
intron 6 | c.2300+47A>G | p.? | c.2300+47A>G | Not classified | To be validated |
| | 2009-07-28 | 2011-03-04 |
intron 6 | c.2300+57T>C | p.? | c.2300+57T>C | Not classified | To be validated |
| | 2008-01-03 | |
intron 6 | c.2300+128C>T | p.? | c.2300+128C>T | Not classified | To be validated |
| | 2008-03-01 | 2008-03-02 |
intron 6 | c.2300+322C>T | p.? | c.2300+322C>T | Not classified | To be validated |
| | 2008-07-11 | 2008-09-18 |
intron 6 | c.2300+331A>G | p.? | c.2300+331A>G | Not classified | To be validated |
| | 2008-07-11 | 2008-09-18 |
intron 6 | c.2300+340delT | p.? | c.2300+340delT | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
intron 6 | c.2301-611_2377del | p.? | R767RfsX12 | Pathogenic | VALIDATED |
| | 2009-12-17 | 2020-08-31 |
intron 6 | c.2301-58A>G | p.? | c.2301-58A>G | Not classified | To be validated |
| | 2011-03-04 | 2011-03-09 |
intron 6 | c.2301-44A>T | p.? | c.2301-44A>T | Not classified | To be validated |
| | 2011-03-04 | 2011-03-09 |
exon 7 | c.2325G>A | p.(Pro775=) | P775P | Likely benign | VALIDATED |
| | 2009-02-04 | 2009-02-05 |
exon 7 | c.2327_2333del | p.(Glu776Glyfs*14) | E776Gfs*14 | Pathogenic | VALIDATED |
| | 2017-11-16 | 2021-05-26 |
exon 7 | c.2334G>A | p.(Trp778*) | W778X | Pathogenic | VALIDATED |
| | 2009-04-03 | 2020-08-27 |
exon 7 | c.2364C>T | p.(Asn788=) | N788N | Likely benign | VALIDATED |
| | 2012-10-17 | 2012-10-22 |
exon 7 | c.2383C>T | p.(Arg795Cys) | R795C | Likely benign | VALIDATED |
| | 2009-06-17 | 2021-05-26 |
exon 7 | c.2389_2390del | p.(Ala798Glnfs*6) | A798fs | Likely pathogenic | To be validated |
| | 2024-06-06 | 2024-06-07 |
exon 7 | c.2444G>A | p.(Arg815His) | R815H | Uncertain significance (VUS) | VALIDATED |
| | 2008-12-28 | 2021-05-26 |
exon 7 | c.2458del | p.(Leu820Cysfs*29) | L820Cfs*29 | Likely pathogenic | VALIDATED |
| | 2014-04-01 | 2020-11-22 |
exon 7 | c.2468T>A | p.(Leu823*) | L823X | Likely pathogenic | VALIDATED |
| | 2010-04-06 | 2011-05-27 |
intron 7 | c.2471+1G>A | p.Leu825* | IVS7+1G>A | Pathogenic | VALIDATED |
| | 2006-08-10 | 2021-05-26 |
intron 7 | c.2471+47A>G | p.? | c.2471+47A>G | Not classified | To be validated |
| | 2012-02-29 | |
intron 7 | c.2471+81_2471+82insG | p.? | c.2471+81_82ins | Not classified | To be validated |
| | 2008-03-01 | 2019-03-11 |
intron 7 | c.2472-181G>A | p.? | c.2472-181G>A | Not classified | To be validated |
| | 2008-07-11 | 2008-09-18 |
intron 7 | c.2472-126A>G | p.? | c.2472-126A>G | Not classified | To be validated |
| | 2008-03-05 | |
intron 7 | c.2472-67A>G | p.? | c.2472-67A>G | Not classified | To be validated |
| | 2008-03-01 | 2008-03-02 |
exon 8 | c.2482_2483delTG | p.(Cys828Serfs*40) | c.2482_2483delTG | Pathogenic | VALIDATED |
| | 2012-07-14 | 2020-04-12 |
exon 8 | c.2497G>A | p.(Ala833Thr) | A833T | Uncertain significance (VUS) | VALIDATED |
| | 2009-06-17 | 2012-02-16 |
exon 8 | c.2571dupC | p.(Ile858Hisfs*11) | I858HfsX11 | Pathogenic | VALIDATED |
| | 2009-12-17 | 2020-08-27 |
exon 8 | c.2573T>C | p.(Ile858Thr) | I858T | Uncertain significance (VUS) | VALIDATED |
| | 2015-10-27 | 2021-05-26 |
exon 8 | c.2616C>A | p.(Tyr872*) | Y872* | Pathogenic | VALIDATED |
| | 2012-02-10 | 2021-05-26 |
exon 8 | c.2639T>C | p.(Leu880Ser) | L880S | Uncertain significance (VUS) | VALIDATED |
| | 2008-05-16 | 2020-04-12 |
intron 8 | c.2642+114G>A | p.? | c.2642+114G>A | Not classified | To be validated |
| | 2009-07-28 | 2019-01-15 |
intron 8 | c.2643-1390T>C | p.? | c.2643-1390T>C | Not classified | To be validated |
| | 2008-07-11 | 2008-09-18 |
intron 8 | c.2643-364G>T | p.? | c.2643-364G>T | Not classified | To be validated |
| | 2008-07-11 | 2008-09-18 |
intron 8 | c.2643-246T>G | p.? | c.2643-246T>G | Not classified | To be validated |
| | 2008-07-11 | 2008-09-18 |
exon 9 | c.2682T>C | p.(Tyr894=) | Y894Y | Benign | VALIDATED |
| | 2007-05-28 | 2008-03-02 |
exon 9 | c.2706C>T | p.(Ala902=) | A902A | Benign | VALIDATED |
| | 2008-03-01 | 2008-03-02 |
exon 9 | c.2721C>T | p.(Asn907=) | N907N | Likely benign | VALIDATED |
| | 2008-05-16 | |
exon 9 | c.2738A>G | p.(Asn913Ser) | N913S | Pathogenic | VALIDATED |
| | 2006-08-10 | 2021-05-26 |
exon 9 | c.2759G>A | p.(Trp920*) | W920* | Pathogenic | VALIDATED |
| | 2015-10-22 | 2020-08-27 |
exon 9 | c.2760G>A | p.(Trp920*) | W920*(2760) | Pathogenic | VALIDATED |
| | 2021-02-03 | 2022-01-19 |
exon 9 | c.2775A>G | p.(Ala925=) | A925A | Benign | VALIDATED |
| | 2007-05-28 | 2008-02-28 |
exon 9 | c.2777T>G | p.(Leu926*) | L926* | Pathogenic | VALIDATED |
| | 2013-06-05 | 2020-08-27 |
exon 9 | c.2791_2792delTG | p.(Cys931*) | C931X | Pathogenic | VALIDATED |
| | 2009-06-17 | 2020-04-12 |
intron 9 | c.2810+2T>G | p.Arg937_Leu938ins54 | c.2810+2T>G | Pathogenic | VALIDATED |
| | 2007-12-25 | 2020-08-31 |
intron 9 | c.2810+26T>C | p.? | c.2810+26T>C | Not classified | To be validated |
| | 2008-07-11 | 2008-08-06 |
intron 9 | c.2810+57T>C | p.? | c.2810+57T>C | Not classified | To be validated |
| | 2008-03-01 | |
intron 9 | c.2810+98C>T | p.? | c.2810+98C>T | Not classified | To be validated |
| | 2008-01-03 | |
intron 9 | c.2810+123G>A | p.? | c.2810+123G>A | Not classified | To be validated |
| | 2008-01-03 | |
intron 9 | c.2810+126T>C | p.? | c.2810+126T>C | Not classified | To be validated |
| | 2008-01-03 | |
intron 9 | c.2810+171T>A | p.? | c.2810+171T>A | Not classified | To be validated |
| | 2008-03-01 | |
intron 9 | c.2810+176T>C | p.? | c.2810+176T>C | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
intron 9 | c.2810+224G>A | p.? | c.2810+224G>A | Not classified | To be validated |
| | 2008-07-11 | 2008-08-06 |
intron 9 | c.2810+276A>G | p.? | c.2810+276A>G | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
intron 9 | c.2811-1214C>T | p.? | c.2811-1214C>T | Not classified | To be validated |
| | 2008-07-11 | 2008-08-25 |
intron 9 | c.2811-695T>C | p.? | c.2811-695T>C | Not classified | To be validated |
| | 2008-07-11 | 2008-08-27 |
intron 9 | c.2811-678C>A | p.? | c.2811-678C>A | Not classified | To be validated |
| | 2008-07-11 | 2008-08-27 |
intron 9 | c.2811-559A>G | p.? | c.2811-559A>G | Not classified | To be validated |
| | 2008-03-05 | 2008-06-24 |
intron 9 | c.2811-527C>T | p.? | c.2811-527C>T | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
intron 9 | c.2811-523C>T | p.? | c.2811-523C>T | Not classified | To be validated |
| | 2008-03-01 | 2008-06-24 |
intron 9 | c.2811-496T>C | p.? | c.2811-496T>C | Not classified | To be validated |
| | 2008-03-01 | 2008-06-24 |
intron 9 | c.2811-416C>A | p.? | c.2811-416C>A | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
intron 9 | c.2811-402C>T | p.? | c.2811-402C>T | Not classified | To be validated |
| | 2008-03-01 | 2008-06-24 |
intron 9 | c.2811-399A>G | p.? | c.2811-399A>G | Not classified | To be validated |
| | 2008-03-01 | 2008-06-24 |
intron 9 | c.2811-394G>T | p.? | c.2811-394G>T | Not classified | To be validated |
| | 2008-03-01 | 2008-06-24 |
intron 9 | c.2811-376G>A | p.? | c.2811-376G>A | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
intron 9 | c.2811-329A>G | p.? | c.2811-329A>G | Not classified | To be validated |
| | 2008-03-01 | 2008-06-24 |
intron 9 | c.2811-312C>A | p.? | c.2811-312C>A | Not classified | To be validated |
| | 2008-03-01 | 2008-06-24 |
intron 9 | c.2811-279G>T | p.? | c.2811-279G>T | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
intron 9 | c.2811-228T>C | p.? | c.2811-228T>C | Not classified | To be validated |
| | 2008-03-01 | 2008-06-24 |
intron 9 | c.2811-194A>T | p.? | c.2811-194A>T | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
intron 9 | c.2811-178G>A | p.? | c.2811-178G>A | Not classified | To be validated |
| | 2008-03-01 | 2008-06-24 |
intron 9 | c.2811-135C>T | p.? | c.2811-135C>T | Not classified | To be validated |
| | 2008-07-11 | 2008-08-06 |
intron 9 | c.2811-114G>A | p.? | c.2811-114G>A | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
intron 9 | c.2811-54T>G | p.? | c.2811-54T>G | Not classified | To be validated |
| | 2008-01-03 | 2008-06-24 |
intron 9 | c.2811-37C>T | p.? | c.2811-37C>T | Not classified | To be validated |
| | 2008-03-05 | 2008-06-24 |
intron 9 | c.2811-34T>G | p.? | c.2811-34T>G | Not classified | To be validated |
| | 2008-03-01 | 2008-06-24 |
intron 9 | c.2811-28C>T | p.? | c.2811-28C>T | Not classified | To be validated |
| | 2008-05-16 | 2008-06-24 |
intron 9 | c.2811-25G>C | p.? | c.2811-25G>C | Not classified | To be validated |
| | 2008-08-21 | |
intron 9 | c.2811-23A>G | p.? | c.2811-23A>G | Not classified | To be validated |
| | 2008-01-03 | 2008-06-24 |
intron 9 | c.2811-15G>A | p.? | c.2811-15G>A | Not classified | To be validated |
| | 2014-09-16 | 2014-09-17 |
exon 10 | c.2891T>C | p.(Leu964Pro) | L964P | Uncertain significance (VUS) | VALIDATED |
| | 2008-05-16 | 2021-05-26 |
exon 10 | c.2940_2941insC | p.(Gly981Argfs*19) | G981Rfs | Pathogenic | VALIDATED |
| | 2013-10-20 | 2020-04-12 |
intron 10 | c.2981+29_2981+32del | p.? | c.2981+29_32delGTTT | Not classified | To be validated |
| | 2008-01-03 | 2019-03-11 |
intron 10 | c.2981+33G>T | p.? | c.2981+33G>T | Not classified | To be validated |
| | 2008-07-11 | 2008-08-06 |
intron 10 | c.2981+123T>C | p.? | c.2981+123T>C | Not classified | To be validated |
| | 2008-03-01 | 2008-06-24 |
intron 10 | c.2981+142C>A | p.? | c.2981+142C>A | Not classified | To be validated |
| | 2008-03-01 | 2008-06-24 |
intron 10 | c.2981+363T>C | p.? | c.2981+363T>C | Not classified | To be validated |
| | 2011-03-04 | 2011-03-07 |
intron 10 | c.2982-401T>C | p.? | c.2982-401T>C | Not classified | To be validated |
| | 2011-03-04 | 2011-03-07 |
intron 10 | c.2982-28delG | p.? | c.2982-28delG | Not classified | To be validated |
| | 2008-01-03 | 2008-06-24 |
intron 10 | c.2982-2A>G | p.? | c.2982-2A>G | Pathogenic | VALIDATED |
| | 2013-06-05 | 2020-07-06 |
exon 11 | c.3062A>T | p.(Asp1021Val) | D1021V | Not classified | To be validated |
| | 2020-07-03 | 2020-11-24 |
exon 11 | c.3082A>G | p.(Thr1028Ala) | T1028A | Likely benign | VALIDATED |
| | 2007-10-17 | 2009-05-21 |
3UT | c.*5C>T | p.? | c.*5C>T | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
3UT | c.*20C>T | p.? | c.*20C>T | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
3UT | c.*44G>A | p.? | c.*44G>A | Not classified | To be validated |
| | 2011-03-04 | 2011-03-04 |
3UT | c.*180G>C | p.? | c.*180G>C | Not classified | To be validated |
| | 2008-03-05 | 2009-07-15 |
3 flanking | c.*236C>T | p.? | c.*236C>T | Not classified | To be validated |
| | 2011-03-04 | 2021-02-11 |
3 flanking | c.*290T>C | p.? | c.*290T>C | Not classified | To be validated |
| | 2008-03-01 | 2008-03-02 |