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Last update:
January 26. 2010 17:18:09
 

Mutations

Updated 19-april-2010
MUTATIONS IN HUMAN ACID ALPHA-GLUCOSIDASE
Location DNA HGVnomenclature Protein HGVnomenclature Effect Year First Link
exon1 c.-82G>C non coding5' unknown 1990 PubMed
intron1 c.-32-13T>G leaky splice potentially mild 1994 PubMed
intron1 c.-32-3C>A r.spl? less severe 2008 PubMed
intron1 c.-32-2A>G r.0? very severe 2008 PubMed
exon2 c.3G>A p.Met1? very severe 2008 PubMed
exon2 c.18_25del p.Pro6fsX34 very severe 2009 PubMed
exon2 c.25delT p.SerfsX33 very severe 2008 PubMed
exon2 c.32G>A p.Arg11Gln non-pathogenic 2008 PubMed
exon2 c.118C>T p.Arg40X very severe 1997 PubMed
exon2 c.148_859-11del p.Glu50HisfsX37 very severe 2007 PubMed
exon2 c.136T>C p.Ser46Pro unknown 2009 PubMed
exon2 c.172C>T p.Gln58X very severe 1999 PubMed
exon2 c.236_246del p.Pro79ArgfsX12 very severe 2006 PubMed
exon2 c.258dupC p.Asn87fsX9 very severe 1998 PubMed
exon2 c.271G>A p.Asp91Asn presumably non-pathogenic 1990 PubMed
exon2 c.271del p.Asp91fsX51 very severe 1998 PubMed
exon2 c.307T>G p.Cys103Gly potentially less severe 2004 PubMed
exon2 c.309C>A p.Cys103X very severe 2004 PubMed
exon2 c.424_440del p.Ser142LleufsX29 very severe 2010 new PubMed
exon2 c.324C>T p.Cys108Cys non-pathogenic 1990 PubMed
exon2 c.340_341insT p.Lys114fsX32 very severe 2004 PubMed
exon2 c.343C>T p.Gln115X very severe 2007 PubMed
exon2 c.363G>A p.=(Gln121) non-pathogenic 2008 PubMed
exon2 c.377G>A p.Trp126X very severe 2006 PubMed
exon2 c.378_379del p.Cys127LeufsX18 very severe 1998 PubMed
exon2 c.399C>A p.Tyr133X very severe 2004 PubMed
exon2 c.421C>A p.Leu141Met potentially less severe 2008 PubMed
exon2 c.447G>A p.Thr149Thr non-pathogenic 2008 PubMed
exon2 c.457_465del p.Thr153_Thr155del very severe 2008 PubMed
exon2 c.461G>C p.Arg154Pro less severe 2008 PubMed
exon2 c.482_483del p.Pro161fsX15 very severe 1997 PubMed
exon2 c.506T>C p.Leu169Pro unknown 2007 PubMed
exon2 c.510C>T p.Asp170Asp non-pathogenic 2004 PubMed
exon2 c.525delT p.Glu176fsX45 very severe 1994 PubMed
exon2 c.532C>T p.Arg178Cys non-pathogenic 2008 PubMed
exon2 c.546G>A leaky splice potentially mild 2004 PubMed
exon2 c.546G>C
unknown 2007 PubMed
intron2 c.546+1G>T r.0? very severe 2008 PubMed
intron2 c.546+24G>A not involved non-pathogenic 2008 PubMed
intron2 c.546+5G>T non coding unknown 2010 new PubMed
intron2 c.547-4C>G not involved non-pathogenic common, not reported
exon3 c.569G>A p.Arg190His potentially less severe 2008 PubMed
exon3 c.572A>G p.Tyr191Cys potentially less severe 2008 PubMed
exon3 c.573C>A p.Tyr191X very severe 2002 PubMed
exon3 c.596G>A p.Arg199His non-pathogenic 1990 PubMed
exon3 c.623T>C p.Leu208Pro potentially less severe 2000 Pubmed
exon3 c.642C>T p.Ser214Ser non-pathogenic 1990 PubMed
exon3 c.634G>T p.Glu212X very severe 2009 PubMed
exon3 c.655G>A p.Gly219Arg potentially less severe 1997ESGLD PubMed
exon3 c.650C>T p.Pro217Leu unknown 200 PubMed
exon3 c.668A>G p.His223Arg non-pathogenic 1995 PubMed
exon3 c.670C>T p.Arg224Trp less severe 2003 PubMed
exon3 c.671G>C p.Arg224Pro unknown 2010 new PubMed
exon3 c.685_686insCGGC p.Arg229fs very severe 2006 PubMed
intron3 c.692+1G>C r.0? very severe 2006 PubMed
intron3 c.692+5G>T r.spl? unknown 2008 PubMed
intron3 c.693-49C>T not involved non-pathogenic 2007 PubMed
exon4 c.710C>T p.Ala237Val unknown 2005 PubMed
exon4 c.716del p.Leu239fsX29 very severe 2004 PubMed
exon4 c.722_723del p.Phe241fsX88 very severe 2008 PubMed
exon4 c.725C>T p.Ala242Val potentially mild 2008 PubMed
exon4 c.742delC p.Leu248ProfsX20 very severe 2008 PubMed
exon4 c.743T>C p.Leu248Pro potentially less severe 2008 PubMed
exon4 c.752C>T p.Ser251Leu non-pathogenic? 2008 PubMed
exon4 c.761C>T p.Ser254Leu non-pathogenic? 2008 PubMed
exon4 c.766_785delinsC p.Tyr256fsX6 very severe 1998 PubMed
exon4 c.768dupT p.Ile257TyrfsX73 very severe 2008 PubMed
exon4 c.776G>T p.Gly259Val potentially less severe 2008 PubMed
exon4 c.784G>A p.Glu262Lys potentially less severe 1997ESGLD PubMed
exon4 c.794delG p.Ser265IlefsX3 very severe 2008 PubMed
exon4 c.796C>T p.Pro266Ser potentially mild 2006 PubMed
exon4 c.811A>G p.Thr271Ala unknown 2010 new PubMed
exon4 c.828_850del p.Thr277fsX45 very severe 2003 Pubmed
exon4 c.852G>A p.=(Ala284) non-pathogenic 2007 PubMed
exon4 c.853C>T p.Pro285Ser potentially mild 2008 PubMed
exon4 c.854C>G p.Pro285Arg potentially mild 2002 PubMed
intron4 c.858+5ins7
unknown 2007 PubMed
intron4 c.858+6G>A non coding non-pathogenic 2008 PubMed
intron4 c.858+8_858+14del not involved non-pathogenic 2008 PubMed
intron4 c.858+9_858+15del not involved non-pathogenic 2008 PubMed
intron4 c.858+18insG non coding non-pathogenic 2003 PubMed
intron4 c.858+21C>G non coding non-pathogenic 2003 PubMed
intron4 c.858+24ins7 non coding non-pathogenic 2008 PubMed
intron4 c.858+30T>C non coding non-pathogenic 2008 PubMed
intron4 c.858+37C>T non coding non-pathogenic 2008 PubMed
exon5 c.871C>T p.Leu291Phe less severe 2008 PubMed
exon5 c.872T>A p.Leu291His less severe 2008 PubMed
exon5 c.872T>C p.Leu291Pro less severe 2008 PubMed
exon5 c.875A>G p.Tyr292Cys potentially mild 1999 PubMed
exon5 c.877G>A p.Gly293Arg potentially less severe 2004 PubMed
exon5 c.885C>G p.His295Gln potentially mild 2008 PubMed
exon5 c.893A>C p.Tyr298Ser unknown 2008 PubMed
exon5 c.896T>G p.Leu299Arg potentially less severe 1995 PubMed
exon5 c.896T>C p.Leu299Pro potentially less severe 2008 PubMed
exon5 c.921A>T p.Ala307Ala non-pathogenic 1993 PubMed
exon5 c.923A>C p.His308Pro potentially less severe 2004 PubMed
exon5 c.923A>T p.His308Leu less severe 2000 Pubmed
exon5 c.925G>A p.Gly309Arg potentially less severe 1998 PubMed
exon5 c.935T>G p.Leu312Arg potentially less severe 2004 PubMed
exon5 c.953T>C p.Met318Thr potentially less severe 1991 PubMed
exon5 c.953T>A p.Met318Lys potentially less severe 2008 PubMed
intron5 c.955+2T>G r.0? very severe 2008 PubMed
intron5 c.955+12A>G non coding non-pathogenic 1995 PubMed
intron5 c.956-84T>C not involved non-pathogenic 2008 PubMed
exon6 c.971C>T p.Pro324Leu less severe 2000 Pubmed
exon6 c.988T>G p.Trp330Gly potentially less severe 2006 PubMed
exon6 c.989G>A p.Trp330X very severe 2003 Pubmed
exon6 c.1003G>A p.Gly335Arg potentially less severe 2008 PubMed
exon6 c.1040C>G p.Pro347Arg unknown 2008 PubMed
exon6 c.1051delG p.Val351CysfsX41 very severe 2008 PubMed
exon6 c.1062C>G p.Tyr354X very severe 2008 PubMed
exon6 c.1064T>C p.Leu355Pro potentially less severe 2004 PubMed
exon6 c.1075G>A p.Gly359Arg unknown 2007 PubMed
intron6 c.1075+13C>T not involved non-pathogenic 2007 PubMed
intron6 c.1076-22T>G p.Asp319_Val358delinsGlySerArgArgTrpProAla potentially mild 1997 Pubmed
intron6 c.1076-1G>A r.0? very severe 2008 PubMed
intron6 c.1076-1G>C r.1076-79_1195+89ins very severe 2006 PubMed
exon7 c.1082C>T p.Pro361Leu potentially less severe 2003 PubMed
exon7 c.1099T>C p.Trp367Arg potentially less severe 2006 PubMed
exon7 c.1100G>A p.Trp367X very severe 2007 PubMed
exon7 c.1115A>T p.His372Leu potentially less severe 2004 PubMed
exon7 c.1120T>C p.Cys374Arg potentially less severe 2004 PubMed
exon7 c.1124G>T p.Arg375Leu potentially less severe 2008 PubMed
exon7 c.1128_1129delinsC p.Trp376CysfsX16 very severe 2008 PubMed
exon7 c.1129G>C p.Gly377Arg potentially less severe 2006 PubMed
exon7 c.1134C>G p.Tyr378X very severe 2008 PubMed
exon7 c.1165delG p.Glu389ArgfsX3 very severe 2008 PubMed
exon7 c.1192dup P.Leu398fs very severe 2007 PubMed
intron7 c.1194+2T>A r.0l? very severe 2006 PubMed
intron7 c.1194+2T>C r.0? very severe 2008 PubMed
intron7 c.1195-44G>A not involved non-pathogenic 2008 PubMed
intron7 c.1195-19_2190-17del p.Asp399fsX6 very severe 2002 PubMed
intron7 c.1195-15G>A
unknown 2007 PubMed
intron7 c.1195-8G>A r.spl? unknown 2008 PubMed
intron7 c.1195-2A>G r.0? very severe 2009 PubMed
exon8 c.1202A>G p.Gln401Arg potentially less severe 2008 PubMed
exon8 c.1203A>G p.Gln401Gln non-pathogenic 1990 PubMed
exon8 c.1204T>C p.Trp402Arg potentially less severe 1990 PubMed
exon8 c.1209C>G p.Asn403Lys unknown 2010 new Dr Solera personal communication
exon8 c.1210G>A p.Asp404Asn potentially less severe 2006 PubMed
exon8 c.1214T>C p.Leu405Pro potentially less severe 2004 PubMed
exon8 c.1222A>G p.Met408Val potentially less severe 2002 PubMed
exon8 c.1229C>T p.Ser410Phe non-pathogenic 2008 PubMed
exon8 c.1239C>G p.Asp413Glu unknown 2008 Pubmed
exon8 c.1309C>T p.Arg437Cys less severe 2003 PubMed
exon8 c.1316T>A p.Met439Lys potentially mild 2006 PubMed
intron8 c.1326+1G>A r.0 very severe 1998 PubMed
intron8 c.1327-18G>A non coding non-pathogenic 1995 PubMed
intron8 c.1327-2A>G splice defect very severe 2008 PubMed
exon9 c.1333G>C p.Ala445Pro potentially less severe 2006 PubMed
exon9 c.1364A>C p.Tyr455Cys unknown 2007 PubMed
exon9 c.1364A>T p.Tyr455Phe less severe 2004 PubMed
exon9 c.1369del
very severe 2007 PubMed
exon9 c.1370C>T p.Pro457Leu potentially mild 2008 PubMed
exon9 c.1371delC p.Tyr458ThrfsX19 very severe 2008 PubMed
exon9 c.1373_1375del p.Asp459del very severe 2004 PubMed
exon9 c.1374C>T p.Tyr458Tyr non-pathogenic 1993 PubMed
exon9 c.1375G>A p.Asp459Asn unknown 2008 PubMed
exon9 c.1381G>A p.Gly461Ser potentially less severe 2008 PubMed
exon9 c.1396delG p.Val466fsX11 very severe 2008 PubMed
exon9 c.1396G>T p.Val466Phe potentially less severe 2008 PubMed
exon9 c.1397T>G p.Val466Gly unknown 2006 PubMed
exon9 c.1408_1410del p.Asn470del unknown 2002 PubMed
exon9 c.1411_1414del p.Glu471fsX5 very severe 1996 Pubmed
exon9 c.1432G>A p.Gly478Arg potentially less severe 1995 PubMed
exon9 c.1437G>C p.Lys479Asn potentially less severe 2008 PubMed
exon9 c.1437G>A r.spl less severe 2008 PubMed
intron9 c.1437+2T>C p.Asp443_Lys479del very severe 2001 PubMed
intron9 c.1437+4G>C non coding non-pathogenic 2008 PubMed
intron9 c.1438-19C>G non coding non-pathogenic 1995 PubMed
intron9 c.1438-1G>C r.spl very severe 2001ASHG
intron9 c.1438-1G>T r.0? very severe 2008 PubMed
exon10 c.1441del p.Trp481fsX39 very severe 1998 PubMed
exon10 c.1441T>C p.Trp481Arg potentially less severe 1998 PubMed
exon10 c.1445C>T p.Pro482Leu unknown 2007 PubMed
exon10 c.1445C>G p.Pro482Arg potentially less severe 2008 PubMed
exon10 c.1447G>A p.Gly483Arg potentially less severe 2008 PubMed
exon10 c.1448G>T p.Gly483Val potentially less severe 2008 PubMed
exon10 c.1456G>C p.Ala486Pro unknown 2009 PubMed
exon10 c.1456_1468del p.Ala486fsX30 very severe 1994 PubMed
exon10 c.1460T>C p.Phe487Ser potentially less severe 2008 PubMed
exon10 c.1465G>A p.Asp489Asn potentially less severe 2006 PubMed
exon10 c.1495T>A p.Trp499Arg potentially less severe 2008 PubMed
exon10 c.1496G>A p.Trp499X very severe 2008 PubMed
exon10 c.1497G>A p.Trp499X very severe 2000 Pubmed
exon10 c.1509_1511del p.Ala504del potentially less severe 2008 PubMed
exon10 c.1540G>C p.Gly514Arg potentially less severe 2007 PubMed
exon10 c.1548G>A p.Trp516X very severe 2004 PubMed
intron10 c.1551+1G>C p.Val480_Ile517del very severe 1994 Pubmed
intron10 c.1551+42G>A not involved non-pathogenic 2008 PubMed
intron10 c.1551+49A>C not involved non-pathogenic 2008 PubMed
intron10 c.1551+49A>T not involved non-pathogenic 2008 PubMed
intron10 c.1552-3C>G leaky splice potentially mild 2006 Springer
exon11 c.1555A>G p.Met519Val less severe 1994 Pubmed
exon11 c.1556T>C p.Met519Thr potentially less severe 1995 PubMed
exon11 c.1561G>C p.Glu521Gln unknown 2008 PubMed
exon11 c.1561G>A p.Glu521Lys potentially less severe 1991 PubMed
exon11 c.1564C>G p.Pro522Ala potentially less severe 2007 PubMed
exon11 c.1564C>A p.Pro522Thr unknown 2007 PubMed
exon11 c.1564C>T p.Pro522Ser unknown 2008 PubMed
exon11 c.1574T>A p.Phe525Tyr unknown 2010 new PubMed
exon11 c.1581A>G p.Arg527Arg non-pathogenic 1990 PubMed
exon11 c.1585_1586TC>GT p.Ser529Val potentially mild 1996 PubMed
exon11 c.1626C>G r.spl? unknown 2006 PubMed
exon11 c.1634C>T p.Pro545Leu less severe 1994 PubMed
intron11 c.1636+1G>C r.0? very severe 2008 PubMed
intron11 c.1636+5G>T r.spl potentially mild 2008 PubMed
intron11 c.1636+5G>C p.Gly546_Val547ins145X146 very severe 2008 PubMed
exon12 c.1642G>T p.Val548Phe unknown 2008 PubMed
exon12 c.1645G>A p.Gly549Arg potentially mild 2004 PubMed
exon12 c.1645G>C p.Gly549Arg potentially mild 2006 PubMed
exon12 c.1655T>C p.Leu552Pro potentially less severe 2001ASHG PubMed
exon12 c.1673G>C p.Cys558Ser unknown
PubMed
exon12 c.1669A>T p.Ile557Phe unknown 2010 new PubMed
exon12 c.1687C>T p.Gln563X very severe 2001ASHG
exon12 c.1696T>C p.Ser566Pro potentially less severe 1995 PubMed
exon12 c.1710C>G p.Asn570Lys potentially less severe 2008 PubMed
exon12 c.1716C>G p.His572Gln unknown 2008 PubMed
exon12 c.1717A>C p.Asn573His potentially less severe 2008 PubMed
exon12 c.1724A>C p.Tyr575Ser potentially less severe 2004 PubMed
exon12 c.1725C>A p.Tyr575X very severe 2009 PubMed
exon12 c.1726G>A p.Gly576Ser presumably non-pathogenic 1995 PubMed
exon12 c.1727G>A p.Gly576Asp potentially less severe 2008 PubMed
exon12 c.1735G>A p.Glu579Lys potentially less severe 2004 PubMed
exon12 c.1748C>T p.Ser583Phe potentially less severe 2008 PubMed
exon12 c.1754G>T p.Arg585Met potentially less severe 2000 Pubmed
exon12 c.1754G>A p.Arg585Lys unknown 2008 PubMed
intron12 c.1754+12A>G not involved non-pathogenic 2008 PubMed
intron12 c.1754+16C>T non coding non-pathogenic 2008 PubMed
intron12 c.1755-1G>A r.0? very severe 2006 PubMed
exon13 c.1776del p.Thr593HisfsX5 very severe 2006 PubMed
exon13 c.1781G>C p.Arg594Pro potentially less severe 2008 PubMed
exon13 c.1796C>A p.Ser599Tyr potentially less severe 2008 PubMed
exon13 c.1798C>T p.Arg600Cys less severe 2000 PubMed
exon13 c.1799G>A p.Arg600His potentially less severe 1999 PubMed
exon13 c.1799G>T p.Arg600Leu potentially less severe 2007 PubMed
exon13 c.1802C>G p.Ser601Trp potentially less severe 2006 PubMed
exon13 c.1819_1836del p.Gly607_His612del very severe 2000 Pubmed
exon13 c.1820G>A p.Gly607Asp potentially less severe 2004 PubMed
exon13 c.1822C>T p.Arg608X very severe 2008 PubMed
exon13 c.1826dup p.Tyr609X very severe 2004 PubMed
exon13 c.1827del p.Tyr609X very severe 2004 PubMed
exon13 c.1829C>T p.Ala610Val less severe 2007 PubMed
exon13 c.1830C>T p.Ala610Ala non-pathogenic 2004 PubMed
exon13 [c.1833_1839del;c.1846G>T;c.1847_1848insT] pHis612_Asp616delinsArgGlyIle very severe 2006 PubMed
exon13 c.1834C>T p.His612Tyr unknown 2009 PubMed
exon13 c.1836C>G p.His612Gln potentially less severe 2006 PubMed
exon13 c.1841C>A p.Thr614Lys potentially less severe 2008 PubMed
exon13 c.1843G>A p.Gly615Arg potentially less severe 1999 PubMed
exon13 c.1850T>C p.Val617Ala non-pathogenic 2008 PubMed
exon13 c.1856G>A p.Ser619Asn less severe 2006 Springer
exon13 c.1857C>G p.Ser619Arg less severe 2003 PubMed
exon13 c.1872C>T p.=(Leu624) non-pathogenic 2008 PubMed
exon13 c.1880C>T p.Ser627Phe unknown 2008 PubMed
intron13 c.1888+1G>A r.0? very severe 2008 PubMed
intron13 c.1888+21G>A not involved non-pathogenic 2008 PubMed
exon14 c.1912G>T p.Gly638Trp potentially less severe 1998 PubMed
exon14 c.1905C>A p.Asn635Lys unknown 2009 PubMed
exon14 c.1913G>T p.Gly638Val potentially less severe 2004 PubMed
exon14 c.1917G>A p.Val639Val non-pathogenic 1995 PubMed
exon14 c.1920T>G p.Pro640Pro non-pathogenic 2008 PubMed
exon14 c.1927G>A p.Gly643Arg potentially less severe 1993 PubMed
exon14 c.1929_1935dup pVal84fsX94 very severe 2009 PubMed
exon14 c.1930G>C p.Ala644Pro unknown 2007 PubMed
exon14 c.1933G>C p.Asp645His potentially less severe 1995 PubMed
exon14 c.1933G>A p.Asp645Asn potentially less severe 1998 PubMed
exon14 c.1933G>T p.Asp645Tyr potentially less severe 2007 PubMed
exon14 c.1935C>A p.Asp645Glu potentially less severe 1993 PubMed
exon14 c.1941C>G p.Cys647Trp potentially less severe 1994 PubMed
exon14 c.1942G>A p.Gly648Ser potentially less severe 1998 PubMed
exon14 c.1960T>C p.Ser654Pro potentially less severe 2008 PubMed
exon14 c.1962_1964del p.Glu655del very severe 2008 PubMed
exon14 c.1971G>A p.=(Leu657) non-pathogenic 2008 PubMed
exon14 c.1978C>T p.Arg660Cys unknown 2006 PubMed
exon14 c.1979G>A p.Arg660His potentially less severe 2003 PubMed
exon14 c.1981T>G p.Trp661Gly potentially less severe 2008 PubMed
exon14 c.2012T>G p.Met671Arg potentially less severe 2006 PubMed
exon14 c.2014C>T p.Arg672Trp less severe 1998 PubMed
exon14 c.2015G>A p.Arg672Gln less severe 1998 PubMed
exon14 c.2024_2026del p.Asn675del potentially less severe 1999 PubMed
exon14 c.2040G>A r.spl? unknown 2007 PubMed
intron14 c.2040+12G>A not involved non-pathogenic 2008 PubMed
intron14 c.2040+20G>A not involved non-pathogenic 2008 PubMed
intron14 c.2040+20G>T not involved non-pathogenic 2008 PubMed
intron14 c.2040+22G>T not involved non-pathogenic 2008 PubMed
intron14 c.2041-64A>G non coding non-pathogenic 2002 PubMed
intron14 c.2041-2A>C p.Pro681_Asp682del very severe 2004 PubMed
intron14 c.2041-1G>A r.0? very severe 2008 PubMed
exon15 c.2055C>A p.Tyr685X very severe 2007 PubMed
exon15 c.2061C>T p.Phe687Phe non-pathogenic 2008 PubMed
exon15 c.2065G>A p.Glu689Lys non-pathogenic 1994 PubMed
exon15 c.2066_2070dup p.Ala691fsX6 very severe 2006 Springer
exon15 c.2104C>T p.Arg702Cys potentially less severe 2004 PubMed
exon15 c.2105G>A p.Arg702His potentially mild 2008 PubMed
exon15 c.2132C>G p.Thr711Arg unknown 2007 PubMed
exon15 c.2133A>G p.Thr711Thr non-pathogenic 1993 PubMed
exon15 c.2135T>C p.Leu712Pro less severe 2008 PubMed
exon15 c.2140del p.His714fs very severe 2007 PubMed
exon15 c.2154C>T p.Val718Val non-pathogenic 1998 PubMed
exon15 c.2161dupG p.Glu721GlyfsX16 very severe 2008 PubMed
exon15
p.Val723Met unknown 2007 PubMed
exon15 c.2173C>T p.Arg725Trp less severe 1993 PubMed
exon15 c.2174G>C p.Arg725Pro potentially less severe 2008 PubMed
exon15 c.2185delC p.Thr729fsX8 very severe 2009 PubMed
exon15 c.2188G>T p.Glu730X very severe 2003 Pubmed
intron15 c.2189+1G>A r.0? very severe 2008 PubMed
intron15 c.2189+459_3405del p.Glu730_Cys952del very severe 1999 PubMed
intron15 c.2190-53C>G non coding non-pathogenic 2008 PubMed
exon16 c.2210C>A p.Thr737Asn potentially less severe 2008 PubMed
exon16 c.2219_2220delTG p.Val740GfsX55 very severe 2006 PubMed
exon16 c.2227C>T p.Gln743X very severe 2008 Pubmed
exon16 c.2228A>G p.Gln743Arg potentially less severe 2008 PubMed
exon16 c.2236T>G p.Trp746Gly unknown 2010 new PubMed
exon16 c.2237G>C p.Trp746Ser potentially less severe 2008 PubMed
exon16 c.2237G>A p.Trp746X very severe 1998 PubMed
exon16 c.2238G>C p.Trp746Cys less severe 1994 PubMed
exon16 c.2238G>A p.Trp746X very severe 2006 PubMed
exon16 c.2242dup p.Glu748fsX48 very severe 1998 PubMed
exon16 c.2255_2257del p.Ile752del unknown 2007 PubMed
exon16 c.2269C>T p.Gln757X very severe 2007 PubMed
exon16 c.2281delGinsAT p.Ala761fs very severe 2006 PubMed
exon16 c.2300delT p.Phe767SerfsX14 very severe 2008 PubMed
exon16 c.2303C>G p.Pro768Arg potentially less severe 1995 PubMed
exon16 c.2314T>C p.Trp772Arg potentially less severe 2008 PubMed
exon16 c.2326C>T p.Gln776X very severe 2008 PubMed
intron16 c.2331+2T>C p.Tyr773fsX3 very severe 1997 PubMed
intron16 c.2331+2T>A splice site very severe 2008 PubMed
intron16 c.2331+4A>G splice site less severe 2006 Springer
intron16 c.2331+20A>G not involved non-pathogenic 2007 Pubmed
intron16 c.2331+24C>T not involved non-pathogenic 2008 PubMed
exon17 c.2338A>G p.Ile780Val non-pathogenic 1990 PubMed
exon17 c.2357dupT p.Pro788ThrfsX8 very severe 2008 PubMed
exon17 c.2380del p.Arg794fsX12 very severe 1999 PubMed
exon17 c.2373_2376delinsTGCTCA p.Pro793HisfsX14 very severe 2010 new PubMed
exon 17 c.2431dup p.Leu811fsX73 very severe 1998 PubMed
exon17 c.2432delT p.Leu811fsX36 very severe 2006 PubMed
exon17 c.2446G>A p.Val816Ile non-pathogenic 1993 PubMed
intron17 c.2481+102_2646+31del p.Gly828_Asn882del very severe 1994 PubMed
exon18 c.2501_2502del p.Thr834ArgfsX49 very severe 2008 PubMed
exon18 c.2530_2541del p.Arg844_Leu847del potentially less severe 2008 PubMed
exon18 c.2553A>G p.Gly851Gly non-pathogenic 1990 PubMed
exon18 c.2560C>T p.Arg854X very severe 1993 PubMed
exon18 c.2600_2604delinsA p.Glu867fs very severe 2007 PubMed
exon18 c.2604delG p.Leu868fs very severe 2007 PubMed
exon18 c.2608C>T p.Arg870X very severe 2006 PubMed
exon18 c.2639C>A p.Ala880Asp potentially less severe 2004 PubMed
exon18 c.2646_2646+1delTG r.0? very severe 2006 PubMed
intron18 c.2646+2T>A p.Val876_Asn882del very severe 2002 PubMed
exon19 c.2662G>T p.Glu888X very severe 2006 PubMed
exon19 c.2702T>A p.Leu901Gln potentially less severe 2004 PubMed
exon19 c.2707_2709del p.Lys903del very severe 1995 PubMed
exon19 c.2724C>G p.Gly908Gly non-pathogenic 2008 PubMed
exon19 c.2740dup;c.2742dup p.Gln914fsX30 very severe 1995 PubMed
exon19 c.2758_2775dup p.Gly920_Asn925dup very severe 1998 PubMed
exon19 c.2770T>C p.Ser924Pro non-pathogenic 2006 PubMed
exon19 c.2780C>T p.Thr927Ile non-pathogenic 1993 PubMed
intron19 c.2800-60A>G not involved non-pathogenic 2008 PubMed
intron19 c.2800-4T>G
unknown 2007 PubMed
exon20 c.2804T>C p.Leu935Pro unknown 2008 PubMed
exon20 c.2808C>T p.Asp936Asp non-pathogenic 1995 PubMed
exon20 c.2815_2816del p.Val939fsX78 very severe 1999 PubMed
exon20 c.2842insT p.Leu948SerfsX70 very severe 2010 new PubMed
exon20 c.2846T>A p.Val949Asp potentially less severe 1998 PubMed
exon20 c.2859G>A(*3) non coding3' non-pathogenic 1993 PubMed
exon20 c.*16T>A non coding3' non-pathogenic 2008 PubMed
exon20 c.*91G>A non coding3' non-pathogenic 2003 PubMed
exon20 c.*140del non coding3' non-pathogenic 1990 PubMed
exon20 c.*143C>T non coding3' non-pathogenic 1990 PubMed
exon20 c.*154insG non coding non-pathogenic 2008 PubMed
exon20 c.*223C>T non coding3' non-pathogenic 1990 PubMed
exon20 c.*227G>C non coding3' non-pathogenic 1990 PubMed
exon20 c.*418T>C non coding3' non-pathogenic 1990 PubMed
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