Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.117837106A= | CA1813957367 | EXT1 | n.523+2T= c.1056+2T= (n.1056+2T=) c.424+2T= c.74-1555T= (n.74-1555T=) | |
8 | g.117837106A>C | CA371893179 | EXT1 | n.523+2T>G c.1056+2T>G (n.1056+2T>G) c.424+2T>G c.74-1555T>G (n.74-1555T>G) | |
8 | g.117837106A>G | CA371893182 | EXT1 | n.523+2T>C c.1056+2T>C (n.1056+2T>C) c.424+2T>C c.74-1555T>C (n.74-1555T>C) | |
8 | g.117837106A>T | CA371893183 | EXT1 | n.523+2T>A c.1056+2T>A (n.1056+2T>A) c.424+2T>A c.74-1555T>A (n.74-1555T>A) | ClinVar dbSNP |
8 | g.117837106dup | CA2695210037 | EXT1 | n.523+2dup c.1056+2dup (n.1056+2dup) c.424+2dup c.74-1555dup (n.74-1555dup) | |
8 | g.117837106_117837111delinsACCTGC | CA1813957368 | EXT1 | n.520_523+2delinsGCAGGT c.1053_1056+2delinsGCAGGT c.421_424+2delinsGCAGGT c.74-1560_74-1555delinsGCAGGT (n.74-1560_74-1555delinsGCAGGT) | |
8 | g.117837107C>A | CA10588449 | EXT1 | n.523+1G>T c.1056+1G>T (n.1056+1G>T) c.424+1G>T c.74-1556G>T (n.74-1556G>T) | ClinVar dbSNP |
8 | g.117837107C= | CA1813957369 | EXT1 | n.523+1G= c.1056+1G= (n.1056+1G=) c.424+1G= c.74-1556G= (n.74-1556G=) | |
8 | g.117837107C>G | CA371893185 | EXT1 | n.523+1G>C c.1056+1G>C (n.1056+1G>C) c.424+1G>C c.74-1556G>C (n.74-1556G>C) | gnomAD v4 |
8 | g.117837107C>T | CA371893188 | EXT1 | n.523+1G>A c.1056+1G>A (n.1056+1G>A) c.424+1G>A c.74-1556G>A (n.74-1556G>A) | ClinVar dbSNP gnomAD v4 |
8 | g.117837107_117837111del | CA891843291 | EXT1 | n.520_523+1del c.1053_1056+1del c.421_424+1del c.74-1560_74-1556del (n.74-1560_74-1556del) | ClinVar dbSNP |
8 | g.117837110_117837118del | CA2582341969 | EXT1 | n.516_523+1del c.1049_1056+1del c.417_424+1del c.74-1564_74-1556del (n.74-1564_74-1556del) | ClinVar |
8 | g.117837108C>A | CA371893199 | EXT1 | n.523G>T c.1056G>T (p.Gln352His) c.424G>T c.74-1557G>T (n.74-1557G>T) | ClinVar dbSNP |
8 | g.117837108C= | CA1813957370 | EXT1 | n.523G= c.1056G= (p.Gln352=) c.424G= c.74-1557G= (n.74-1557G=) | |
8 | g.117837108C>G | CA371893203 | EXT1 | n.523G>C c.1056G>C (p.Gln352His) c.424G>C c.74-1557G>C (n.74-1557G>C) | |
8 | g.117837108C>T | CA462468957 | EXT1 | n.523G>A c.1056G>A (p.Gln352=) c.424G>A c.74-1557G>A (n.74-1557G>A) | |
8 | g.117837109T>A | CA371893205 | EXT1 | n.522A>T c.1055A>T (p.Gln352Leu) c.423A>T c.74-1558A>T (n.74-1558A>T) | |
8 | g.117837109T>C | CA371893208 | EXT1 | n.522A>G c.1055A>G (p.Gln352Arg) c.423A>G c.74-1558A>G (n.74-1558A>G) | |
8 | g.117837109T>G | CA371893210 | EXT1 | n.522A>C c.1055A>C (p.Gln352Pro) c.423A>C c.74-1558A>C (n.74-1558A>C) | |
8 | g.117837110G>A | CA371893214 | EXT1 | n.521C>T c.1054C>T (p.Gln352Ter) c.422C>T c.74-1559C>T (n.74-1559C>T) | ClinVar |
8 | g.117837110G>C | CA371893215 | EXT1 | n.521C>G c.1054C>G (p.Gln352Glu) c.422C>G c.74-1559C>G (n.74-1559C>G) | |
8 | g.117837110G>T | CA371893213 | EXT1 | n.521C>A c.1054C>A (p.Gln352Lys) c.422C>A c.74-1559C>A (n.74-1559C>A) | |
8 | g.117837111C>A | CA371893216 | EXT1 | n.520G>T c.1053G>T (p.Leu351Phe) c.421G>T c.74-1560G>T (n.74-1560G>T) | |
8 | g.117837111C= | CA1813957371 | EXT1 | n.520G= c.1053G= (p.Leu351=) c.421G= c.74-1560G= (n.74-1560G=) | |
8 | g.117837111C>G | CA371893217 | EXT1 | n.520G>C c.1053G>C (p.Leu351Phe) c.421G>C c.74-1560G>C (n.74-1560G>C) | |
8 | g.117837111C>T | CA462468958 | EXT1 | n.520G>A c.1053G>A (p.Leu351=) c.421G>A c.74-1560G>A (n.74-1560G>A) | dbSNP gnomAD v4 |
8 | g.117837112A>C | CA371893218 | EXT1 | n.519T>G c.1052T>G (p.Leu351Trp) c.420T>G c.74-1561T>G (n.74-1561T>G) | |
8 | g.117837112A>G | CA371893219 | EXT1 | n.519T>C c.1052T>C (p.Leu351Ser) c.420T>C c.74-1561T>C (n.74-1561T>C) | |
8 | g.117837112A>T | CA371893220 | EXT1 | n.519T>A c.1052T>A (p.Leu351Ter) c.420T>A c.74-1561T>A (n.74-1561T>A) | |
8 | g.117837114dup | CA2573142798 | EXT1 | n.519dup c.1052dup (p.Leu351PhefsTer20) c.420dup c.74-1561dup (n.74-1561dup) | ClinVar dbSNP |
8 | g.117837113A>C | CA371893222 | EXT1 | n.518T>G c.1051T>G (p.Leu351Val) c.419T>G c.74-1562T>G (n.74-1562T>G) | ClinVar gnomAD v4 |
8 | g.117837113A>G | CA462468962 | EXT1 | n.518T>C c.1051T>C (p.Leu351=) c.419T>C c.74-1562T>C (n.74-1562T>C) | |
8 | g.117837113A>T | CA371893221 | EXT1 | n.518T>A c.1051T>A (p.Leu351Met) c.419T>A c.74-1562T>A (n.74-1562T>A) | |
8 | g.117837113_117837115delinsGGAATCAGATT | CA2695210038 | EXT1 | n.516_518delinsAATCTGATTCC c.1049_1051delinsAATCTGATTCC (p.Ala350GlufsTer12) c.417_419delinsAATCTGATTCC c.74-1564_74-1562delinsAATCTGATTCC (n.74-1564_74-1562delinsAATCTGATTCC) | |
8 | g.117837114A= | CA1813957372 | EXT1 | n.517T= c.1050T= (p.Ala350=) c.418T= c.74-1563T= (n.74-1563T=) | |
8 | g.117837114A>C | CA4854264 | EXT1 | n.517T>G c.1050T>G (p.Ala350=) c.418T>G c.74-1563T>G (n.74-1563T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117837114A>G | CA462468963 | EXT1 | n.517T>C c.1050T>C (p.Ala350=) c.418T>C c.74-1563T>C (n.74-1563T>C) | |
8 | g.117837114A>T | CA462468964 | EXT1 | n.517T>A c.1050T>A (p.Ala350=) c.418T>A c.74-1563T>A (n.74-1563T>A) | |
8 | g.117837115G>A | CA371893223 | EXT1 | n.516C>T c.1049C>T (p.Ala350Val) c.417C>T c.74-1564C>T (n.74-1564C>T) | |
8 | g.117837115G>C | CA371893224 | EXT1 | n.516C>G c.1049C>G (p.Ala350Gly) c.417C>G c.74-1564C>G (n.74-1564C>G) | |
8 | g.117837115G>T | CA371893225 | EXT1 | n.516C>A c.1049C>A (p.Ala350Asp) c.417C>A c.74-1564C>A (n.74-1564C>A) | |
8 | g.117837116C>A | CA371893226 | EXT1 | n.515G>T c.1048G>T (p.Ala350Ser) c.416G>T c.74-1565G>T (n.74-1565G>T) | |
8 | g.117837116C>G | CA371893227 | EXT1 | n.515G>C c.1048G>C (p.Ala350Pro) c.416G>C c.74-1565G>C (n.74-1565G>C) | |
8 | g.117837116C>T | CA371893228 | EXT1 | n.515G>A c.1048G>A (p.Ala350Thr) c.416G>A c.74-1565G>A (n.74-1565G>A) | |
8 | g.117837117C>A | CA371893229 | EXT1 | n.514G>T c.1047G>T (p.Glu349Asp) c.415G>T c.74-1566G>T (n.74-1566G>T) | dbSNP |
8 | g.117837117C= | CA1813957373 | EXT1 | n.514G= c.1047G= (p.Glu349=) c.415G= c.74-1566G= (n.74-1566G=) | |
8 | g.117837117C>G | CA371893230 | EXT1 | n.514G>C c.1047G>C (p.Glu349Asp) c.415G>C c.74-1566G>C (n.74-1566G>C) | |
8 | g.117837117C>T | CA462468965 | EXT1 | n.514G>A c.1047G>A (p.Glu349=) c.415G>A c.74-1566G>A (n.74-1566G>A) | dbSNP gnomAD v4 |
8 | g.117837118_117837119del | CA2580078551 | EXT1 | n.513_514del c.1046_1047del (p.Glu349GlyfsTer21) c.414_415del c.74-1567_74-1566del (n.74-1567_74-1566del) | ClinVar |
8 | g.117837118T>A | CA371893231 | EXT1 | n.513A>T c.1046A>T (p.Glu349Val) c.414A>T c.74-1567A>T (n.74-1567A>T) | |
8 | g.117837118T>C | CA184298026 | EXT1 | n.513A>G c.1046A>G (p.Glu349Gly) c.414A>G c.74-1567A>G (n.74-1567A>G) | dbSNP |
8 | g.117837118T>G | CA371893232 | EXT1 | n.513A>C c.1046A>C (p.Glu349Ala) c.414A>C c.74-1567A>C (n.74-1567A>C) | |
8 | g.117837118T= | CA1813957374 | EXT1 | n.513A= c.1046A= (p.Glu349=) c.414A= c.74-1567A= (n.74-1567A=) | |
8 | g.117837119C>A | CA371893233 | EXT1 | n.512G>T c.1045G>T (p.Glu349Ter) c.413G>T c.74-1568G>T (n.74-1568G>T) | |
8 | g.117837119C>G | CA371893234 | EXT1 | n.512G>C c.1045G>C (p.Glu349Gln) c.413G>C c.74-1568G>C (n.74-1568G>C) | |
8 | g.117837119C>T | CA371893235 | EXT1 | n.512G>A c.1045G>A (p.Glu349Lys) c.413G>A c.74-1568G>A (n.74-1568G>A) | |
8 | g.117837120C>A | CA462468966 | EXT1 | n.511G>T c.1044G>T (p.Leu348=) c.412G>T c.74-1569G>T (n.74-1569G>T) | |
8 | g.117837120C= | CA1813957375 | EXT1 | n.511G= c.1044G= (p.Leu348=) c.412G= c.74-1569G= (n.74-1569G=) | |
8 | g.117837120C>G | CA462468967 | EXT1 | n.511G>C c.1044G>C (p.Leu348=) c.412G>C c.74-1569G>C (n.74-1569G>C) | dbSNP gnomAD v4 |
8 | g.117837120C>T | CA462468968 | EXT1 | n.511G>A c.1044G>A (p.Leu348=) c.412G>A c.74-1569G>A (n.74-1569G>A) | ClinVar dbSNP gnomAD v4 |
8 | g.117837121A>C | CA371893238 | EXT1 | n.510T>G c.1043T>G (p.Leu348Arg) c.411T>G c.74-1570T>G (n.74-1570T>G) | |
8 | g.117837121A>G | CA371893237 | EXT1 | n.510T>C c.1043T>C (p.Leu348Pro) c.411T>C c.74-1570T>C (n.74-1570T>C) | dbSNP |
8 | g.117837121A>T | CA371893236 | EXT1 | n.510T>A c.1043T>A (p.Leu348Gln) c.411T>A c.74-1570T>A (n.74-1570T>A) | |
8 | g.117837122G>A | CA462468969 | EXT1 | n.509C>T c.1042C>T (p.Leu348=) c.410C>T c.74-1571C>T (n.74-1571C>T) | gnomAD v4 |
8 | g.117837122G>C | CA371893239 | EXT1 | n.509C>G c.1042C>G (p.Leu348Val) c.410C>G c.74-1571C>G (n.74-1571C>G) | dbSNP |
8 | g.117837122G= | CA1813957376 | EXT1 | n.509C= c.1042C= (p.Leu348=) c.410C= c.74-1571C= (n.74-1571C=) | |
8 | g.117837122G>T | CA371893240 | EXT1 | n.509C>A c.1042C>A (p.Leu348Met) c.410C>A c.74-1571C>A (n.74-1571C>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.117837123G>A | CA462468970 | EXT1 | n.508C>T c.1041C>T (p.Phe347=) c.409C>T c.74-1572C>T (n.74-1572C>T) | |
8 | g.117837123G>C | CA371893241 | EXT1 | n.508C>G c.1041C>G (p.Phe347Leu) c.409C>G c.74-1572C>G (n.74-1572C>G) | |
8 | g.117837123G>T | CA371893242 | EXT1 | n.508C>A c.1041C>A (p.Phe347Leu) c.409C>A c.74-1572C>A (n.74-1572C>A) | |
8 | g.117837124A>C | CA371893243 | EXT1 | n.507T>G c.1040T>G (p.Phe347Cys) c.408T>G c.74-1573T>G (n.74-1573T>G) | |
8 | g.117837124A>G | CA371893244 | EXT1 | n.507T>C c.1040T>C (p.Phe347Ser) c.408T>C c.74-1573T>C (n.74-1573T>C) | |
8 | g.117837124A>T | CA371893245 | EXT1 | n.507T>A c.1040T>A (p.Phe347Tyr) c.408T>A c.74-1573T>A (n.74-1573T>A) | |
8 | g.117837125A>C | CA371893246 | EXT1 | n.506T>G c.1039T>G (p.Phe347Val) c.407T>G c.74-1574T>G (n.74-1574T>G) | |
8 | g.117837125A>G | CA371893248 | EXT1 | n.506T>C c.1039T>C (p.Phe347Leu) c.407T>C c.74-1574T>C (n.74-1574T>C) | |
8 | g.117837125A>T | CA371893247 | EXT1 | n.506T>A c.1039T>A (p.Phe347Ile) c.407T>A c.74-1574T>A (n.74-1574T>A) | |
8 | g.117837126T>A | CA371893249 | EXT1 | n.505A>T c.1038A>T (p.Arg346Ser) c.406A>T c.74-1575A>T (n.74-1575A>T) | |
8 | g.117837126T>C | CA462468971 | EXT1 | n.505A>G c.1038A>G (p.Arg346=) c.406A>G c.74-1575A>G (n.74-1575A>G) | ClinVar dbSNP |
8 | g.117837126T>G | CA371893250 | EXT1 | n.505A>C c.1038A>C (p.Arg346Ser) c.406A>C c.74-1575A>C (n.74-1575A>C) | ClinVar |
8 | g.117837127C>A | CA371893251 | EXT1 | n.504G>T c.1037G>T (p.Arg346Ile) c.405G>T c.74-1576G>T (n.74-1576G>T) | ClinVar dbSNP |
8 | g.117837127C= | CA1813957377 | EXT1 | n.504G= c.1037G= (p.Arg346=) c.405G= c.74-1576G= (n.74-1576G=) | |
8 | g.117837127C>G | CA371893252 | EXT1 | n.504G>C c.1037G>C (p.Arg346Thr) c.405G>C c.74-1576G>C (n.74-1576G>C) | gnomAD v4 |
8 | g.117837127C>T | CA371893253 | EXT1 | n.504G>A c.1037G>A (p.Arg346Lys) c.405G>A c.74-1576G>A (n.74-1576G>A) | dbSNP |
8 | g.117837128T>A | CA371893254 | EXT1 | n.503A>T c.1036A>T (p.Arg346Ter) c.404A>T c.74-1577A>T (n.74-1577A>T) | |
8 | g.117837128T>C | CA371893255 | EXT1 | n.503A>G c.1036A>G (p.Arg346Gly) c.404A>G c.74-1577A>G (n.74-1577A>G) | ClinVar dbSNP |
8 | g.117837128T>G | CA462468972 | EXT1 | n.503A>C c.1036A>C (p.Arg346=) c.404A>C c.74-1577A>C (n.74-1577A>C) | |
8 | g.117837128T= | CA1813957378 | EXT1 | n.503A= c.1036A= (p.Arg346=) c.404A= c.74-1577A= (n.74-1577A=) | |
8 | g.117837129G>A | CA462468973 | EXT1 | n.502C>T c.1035C>T (p.Phe345=) c.403C>T c.74-1578C>T (n.74-1578C>T) | gnomAD v4 |
8 | g.117837129G>C | CA371893256 | EXT1 | n.502C>G c.1035C>G (p.Phe345Leu) c.403C>G c.74-1578C>G (n.74-1578C>G) | |
8 | g.117837129G>T | CA371893257 | EXT1 | n.502C>A c.1035C>A (p.Phe345Leu) c.403C>A c.74-1578C>A (n.74-1578C>A) | |
8 | g.117837130A>C | CA371893258 | EXT1 | n.501T>G c.1034T>G (p.Phe345Cys) c.402T>G c.74-1579T>G (n.74-1579T>G) | |
8 | g.117837130A>G | CA371893259 | EXT1 | n.501T>C c.1034T>C (p.Phe345Ser) c.402T>C c.74-1579T>C (n.74-1579T>C) | |
8 | g.117837130A>T | CA371893260 | EXT1 | n.501T>A c.1034T>A (p.Phe345Tyr) c.402T>A c.74-1579T>A (n.74-1579T>A) | |
8 | g.117837131A>C | CA371893261 | EXT1 | n.500T>G c.1033T>G (p.Phe345Val) c.401T>G c.74-1580T>G (n.74-1580T>G) | |
8 | g.117837131A>G | CA371893263 | EXT1 | n.500T>C c.1033T>C (p.Phe345Leu) c.401T>C c.74-1580T>C (n.74-1580T>C) | |
8 | g.117837131A>T | CA371893262 | EXT1 | n.500T>A c.1033T>A (p.Phe345Ile) c.401T>A c.74-1580T>A (n.74-1580T>A) | |
8 | g.117837132G>A | CA462468974 | EXT1 | n.499C>T c.1032C>T (p.Ser344=) c.400C>T c.74-1581C>T (n.74-1581C>T) | dbSNP |
8 | g.117837132G>C | CA462468975 | EXT1 | n.499C>G c.1032C>G (p.Ser344=) c.400C>G c.74-1581C>G (n.74-1581C>G) | |
8 | g.117837132G>T | CA462468976 | EXT1 | n.499C>A c.1032C>A (p.Ser344=) c.400C>A c.74-1581C>A (n.74-1581C>A) | |
8 | g.117837133dup | CA2840033779 | EXT1 | n.499dup c.1032dup (p.Phe345LeufsTer26) c.400dup c.74-1581dup (n.74-1581dup) | |
8 | g.117837133G>A | CA371893264 | EXT1 | n.498C>T c.1031C>T (p.Ser344Phe) c.399C>T c.74-1582C>T (n.74-1582C>T) | |
8 | g.117837133G>C | CA371893265 | EXT1 | n.498C>G c.1031C>G (p.Ser344Cys) c.399C>G c.74-1582C>G (n.74-1582C>G) | |
8 | g.117837133G= | CA1813957379 | EXT1 | n.498C= c.1031C= (p.Ser344=) c.399C= c.74-1582C= (n.74-1582C=) | |
8 | g.117837133G>T | CA371893266 | EXT1 | n.498C>A c.1031C>A (p.Ser344Tyr) c.399C>A c.74-1582C>A (n.74-1582C>A) | dbSNP |
8 | g.117837134A= | CA1813957380 | EXT1 | n.497T= c.1030T= (p.Ser344=) c.398T= c.74-1583T= (n.74-1583T=) | |
8 | g.117837134A>C | CA184298027 | EXT1 | n.497T>G c.1030T>G (p.Ser344Ala) c.398T>G c.74-1583T>G (n.74-1583T>G) | dbSNP |
8 | g.117837134A>G | CA371893267 | EXT1 | n.497T>C c.1030T>C (p.Ser344Pro) c.398T>C c.74-1583T>C (n.74-1583T>C) | COSMIC |
8 | g.117837134A>T | CA371893268 | EXT1 | n.497T>A c.1030T>A (p.Ser344Thr) c.398T>A c.74-1583T>A (n.74-1583T>A) | |
8 | g.117837135C>A | CA462468977 | EXT1 | n.496G>T c.1029G>T (p.Gly343=) c.397G>T c.74-1584G>T (n.74-1584G>T) | |
8 | g.117837135C= | CA1813957381 | EXT1 | n.496G= c.1029G= (p.Gly343=) c.397G= c.74-1584G= (n.74-1584G=) | |
8 | g.117837135C>G | CA462468978 | EXT1 | n.496G>C c.1029G>C (p.Gly343=) c.397G>C c.74-1584G>C (n.74-1584G>C) | |
8 | g.117837135C>T | CA462468979 | EXT1 | n.496G>A c.1029G>A (p.Gly343=) c.397G>A c.74-1584G>A (n.74-1584G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117837136C>A | CA371893269 | EXT1 | n.495G>T c.1028G>T (p.Gly343Val) c.396G>T c.74-1585G>T (n.74-1585G>T) | |
8 | g.117837136C= | CA1813957382 | EXT1 | n.495G= c.1028G= (p.Gly343=) c.396G= c.74-1585G= (n.74-1585G=) | |
8 | g.117837136C>G | CA371893270 | EXT1 | n.495G>C c.1028G>C (p.Gly343Ala) c.396G>C c.74-1585G>C (n.74-1585G>C) | |
8 | g.117837136C>T | CA371893271 | EXT1 | n.495G>A c.1028G>A (p.Gly343Glu) c.396G>A c.74-1585G>A (n.74-1585G>A) | ClinVar dbSNP |
8 | g.117837137C>A | CA184298030 | EXT1 | n.494G>T c.1027G>T (p.Gly343Trp) c.395G>T c.74-1586G>T (n.74-1586G>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.117837137C= | CA1813957383 | EXT1 | n.494G= c.1027G= (p.Gly343=) c.395G= c.74-1586G= (n.74-1586G=) | |
8 | g.117837137C>G | CA371893272 | EXT1 | n.494G>C c.1027G>C (p.Gly343Arg) c.395G>C c.74-1586G>C (n.74-1586G>C) | |
8 | g.117837137C>T | CA371893273 | EXT1 | n.494G>A c.1027G>A (p.Gly343Arg) c.395G>A c.74-1586G>A (n.74-1586G>A) | ClinVar dbSNP gnomAD v4 |
8 | g.117837138A= | CA1813957384 | EXT1 | n.493T= c.1026T= (p.Leu342=) c.394T= c.74-1587T= (n.74-1587T=) | |
8 | g.117837138A>C | CA462468981 | EXT1 | n.493T>G c.1026T>G (p.Leu342=) c.394T>G c.74-1587T>G (n.74-1587T>G) | |
8 | g.117837138A>G | CA4854265 | EXT1 | n.493T>C c.1026T>C (p.Leu342=) c.394T>C c.74-1587T>C (n.74-1587T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.117837138A>T | CA462468980 | EXT1 | n.493T>A c.1026T>A (p.Leu342=) c.394T>A c.74-1587T>A (n.74-1587T>A) | |
8 | g.117837139A>C | CA371893276 | EXT1 | n.492T>G c.1025T>G (p.Leu342Arg) c.393T>G c.74-1588T>G (n.74-1588T>G) | |
8 | g.117837139A>G | CA371893274 | EXT1 | n.492T>C c.1025T>C (p.Leu342Pro) c.393T>C c.74-1588T>C (n.74-1588T>C) | |
8 | g.117837139A>T | CA371893275 | EXT1 | n.492T>A c.1025T>A (p.Leu342His) c.393T>A c.74-1588T>A (n.74-1588T>A) | |
8 | g.117837140G>A | CA371893277 | EXT1 | n.491C>T c.1024C>T (p.Leu342Phe) c.392C>T c.74-1589C>T (n.74-1589C>T) | gnomAD v4 |
8 | g.117837140G>C | CA371893278 | EXT1 | n.491C>G c.1024C>G (p.Leu342Val) c.392C>G c.74-1589C>G (n.74-1589C>G) | gnomAD v4 |
8 | g.117837140G>T | CA371893279 | EXT1 | n.491C>A c.1024C>A (p.Leu342Ile) c.392C>A c.74-1589C>A (n.74-1589C>A) | gnomAD v4 COSMIC |
8 | g.117837141C>A | CA371893280 | EXT1 | n.490G>T c.1023G>T (p.Arg341Ser) c.391G>T c.74-1590G>T (n.74-1590G>T) | |
8 | g.117837141C= | CA1813957385 | EXT1 | n.490G= c.1023G= (p.Arg341=) c.391G= c.74-1590G= (n.74-1590G=) | |
8 | g.117837141C>G | CA371893281 | EXT1 | n.490G>C c.1023G>C (p.Arg341Ser) c.391G>C c.74-1590G>C (n.74-1590G>C) | |
8 | g.117837141C>T | CA462468982 | EXT1 | n.490G>A c.1023G>A (p.Arg341=) c.391G>A c.74-1590G>A (n.74-1590G>A) | dbSNP |
8 | g.117837142C>A | CA371893282 | EXT1 | n.489G>T c.1022G>T (p.Arg341Met) c.390G>T c.74-1591G>T (n.74-1591G>T) | |
8 | g.117837142C>G | CA371893283 | EXT1 | n.489G>C c.1022G>C (p.Arg341Thr) c.390G>C c.74-1591G>C (n.74-1591G>C) | |
8 | g.117837142C>T | CA371893284 | EXT1 | n.489G>A c.1022G>A (p.Arg341Lys) c.390G>A c.74-1591G>A (n.74-1591G>A) | |
8 | g.117837143del | CA2695210039 | EXT1 | n.488del c.1021del (p.Arg341GlyfsTer18) c.389del c.74-1592del (n.74-1592del) | |
8 | g.117837143T>A | CA371893285 | EXT1 | n.488A>T c.1021A>T (p.Arg341Trp) c.389A>T c.74-1592A>T (n.74-1592A>T) | ClinVar dbSNP |
8 | g.117837143T>C | CA371893286 | EXT1 | n.488A>G c.1021A>G (p.Arg341Gly) c.389A>G c.74-1592A>G (n.74-1592A>G) | ClinVar dbSNP |
8 | g.117837143T>G | CA462468983 | EXT1 | n.488A>C c.1021A>C (p.Arg341=) c.389A>C c.74-1592A>C (n.74-1592A>C) | |
8 | g.117837143T= | CA1813957386 | EXT1 | n.488A= c.1021A= (p.Arg341=) c.389A= c.74-1592A= (n.74-1592A=) | |
8 | g.117837144G>A | CA10587002 | EXT1 | n.487C>T c.1020C>T (p.Arg340=) c.388C>T c.74-1593C>T (n.74-1593C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.117837144G>C | CA462468985 | EXT1 | n.487C>G c.1020C>G (p.Arg340=) c.388C>G c.74-1593C>G (n.74-1593C>G) | |
8 | g.117837144G= | CA1813957387 | EXT1 | n.487C= c.1020C= (p.Arg340=) c.388C= c.74-1593C= (n.74-1593C=) | |
8 | g.117837144G>T | CA462468984 | EXT1 | n.487C>A c.1020C>A (p.Arg340=) c.388C>A c.74-1593C>A (n.74-1593C>A) | |
8 | g.117837145C>A | CA252308 | EXT1 | n.486G>T c.1019G>T (p.Arg340Leu) c.387G>T c.74-1594G>T (n.74-1594G>T) | ClinVar dbSNP |
8 | g.117837145C= | CA1813957388 | EXT1 | n.486G= c.1019G= (p.Arg340=) c.387G= c.74-1594G= (n.74-1594G=) | |
8 | g.117837145C>G | CA371893287 | EXT1 | n.486G>C c.1019G>C (p.Arg340Pro) c.387G>C c.74-1594G>C (n.74-1594G>C) | |
8 | g.117837145C>T | CA4854266 | EXT1 | n.486G>A c.1019G>A (p.Arg340His) c.387G>A c.74-1594G>A (n.74-1594G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.117837146G>A | CA252315 | EXT1 | n.485C>T c.1018C>T (p.Arg340Cys) c.386C>T c.74-1595C>T (n.74-1595C>T) | ClinVar dbSNP gnomAD v4 |
8 | g.117837146G>C | CA371893289 | EXT1 | n.485C>G c.1018C>G (p.Arg340Gly) c.386C>G c.74-1595C>G (n.74-1595C>G) | ClinVar dbSNP |
8 | g.117837146G= | CA1813957389 | EXT1 | n.485C= c.1018C= (p.Arg340=) c.386C= c.74-1595C= (n.74-1595C=) | |
8 | g.117837146G>T | CA371893288 | EXT1 | n.485C>A c.1018C>A (p.Arg340Ser) c.386C>A c.74-1595C>A (n.74-1595C>A) | gnomAD v4 |
8 | g.117837146_117837149delinsGACC | CA1813957390 | EXT1 | n.482_485delinsGGTC c.1015_1018delinsGGTC (p.Gly339=) c.383_386delinsGGTC c.74-1598_74-1595delinsGGTC (n.74-1598_74-1595delinsGGTC) | |
8 | g.117837147A>C | CA462468986 | EXT1 | n.484T>G c.1017T>G (p.Gly339=) c.385T>G c.74-1596T>G (n.74-1596T>G) | |
8 | g.117837147A>G | CA462468987 | EXT1 | n.484T>C c.1017T>C (p.Gly339=) c.385T>C c.74-1596T>C (n.74-1596T>C) | |
8 | g.117837147A>T | CA462468988 | EXT1 | n.484T>A c.1017T>A (p.Gly339=) c.385T>A c.74-1596T>A (n.74-1596T>A) | |
8 | g.117837149_117837151del | CA16042622 | EXT1 | n.482_484del c.1015_1017del (p.Gly339del) c.383_385del c.74-1598_74-1596del (n.74-1598_74-1596del) | ClinVar dbSNP |
8 | g.117837148C>A | CA371893291 | EXT1 | n.483G>T c.1016G>T (p.Gly339Val) c.384G>T c.74-1597G>T (n.74-1597G>T) | ClinVar |
8 | g.117837148C= | CA1813957391 | EXT1 | n.483G= c.1016G= (p.Gly339=) c.384G= c.74-1597G= (n.74-1597G=) | |
8 | g.117837148C>G | CA371893290 | EXT1 | n.483G>C c.1016G>C (p.Gly339Ala) c.384G>C c.74-1597G>C (n.74-1597G>C) | |
8 | g.117837148C>T | CA252310 | EXT1 | n.483G>A c.1016G>A (p.Gly339Asp) c.384G>A c.74-1597G>A (n.74-1597G>A) | ClinVar dbSNP |
8 | g.117837149C>A | CA371893292 | EXT1 | n.482G>T c.1015G>T (p.Gly339Cys) c.383G>T c.74-1598G>T (n.74-1598G>T) | |
8 | g.117837149C>G | CA371893293 | EXT1 | n.482G>C c.1015G>C (p.Gly339Arg) c.383G>C c.74-1598G>C (n.74-1598G>C) | |
8 | g.117837149C>T | CA371893294 | EXT1 | n.482G>A c.1015G>A (p.Gly339Ser) c.383G>A c.74-1598G>A (n.74-1598G>A) | ClinVar dbSNP |
8 | g.117837150A= | CA1813957392 | EXT1 | n.481T= c.1014T= (p.Arg338=) c.382T= c.74-1599T= (n.74-1599T=) | |
8 | g.117837150A>C | CA4854267 | EXT1 | n.481T>G c.1014T>G (p.Arg338=) c.382T>G c.74-1599T>G (n.74-1599T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117837150A>G | CA462468989 | EXT1 | n.481T>C c.1014T>C (p.Arg338=) c.382T>C c.74-1599T>C (n.74-1599T>C) | |
8 | g.117837150A>T | CA462468990 | EXT1 | n.481T>A c.1014T>A (p.Arg338=) c.382T>A c.74-1599T>A (n.74-1599T>A) | |
8 | g.117837151C>A | CA371893295 | EXT1 | n.480G>T c.1013G>T (p.Arg338Leu) c.381G>T c.74-1600G>T (n.74-1600G>T) | |
8 | g.117837151C= | CA1813957393 | EXT1 | n.480G= c.1013G= (p.Arg338=) c.381G= c.74-1600G= (n.74-1600G=) | |
8 | g.117837151C>G | CA371893296 | EXT1 | n.480G>C c.1013G>C (p.Arg338Pro) c.381G>C c.74-1600G>C (n.74-1600G>C) | |
8 | g.117837151C>T | CA371893297 | EXT1 | n.480G>A c.1013G>A (p.Arg338His) c.381G>A c.74-1600G>A (n.74-1600G>A) | ClinVar dbSNP gnomAD v4 |
8 | g.117837152del | CA2695210040 | EXT1 | n.479del c.1012del (p.Arg338ValfsTer21) c.380del c.74-1601del (n.74-1601del) | |
8 | g.117837152G>A | CA371893298 | EXT1 | n.479C>T c.1012C>T (p.Arg338Cys) c.380C>T c.74-1601C>T (n.74-1601C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.117837152G>C | CA371893299 | EXT1 | n.479C>G c.1012C>G (p.Arg338Gly) c.380C>G c.74-1601C>G (n.74-1601C>G) | |
8 | g.117837152G= | CA1813957394 | EXT1 | n.479C= c.1012C= (p.Arg338=) c.380C= c.74-1601C= (n.74-1601C=) | |
8 | g.117837152G>T | CA371893300 | EXT1 | n.479C>A c.1012C>A (p.Arg338Ser) c.380C>A c.74-1601C>A (n.74-1601C>A) | |
8 | g.117837153A>C | CA462468993 | EXT1 | n.478T>G c.1011T>G (p.Pro337=) c.379T>G c.74-1602T>G (n.74-1602T>G) | |
8 | g.117837153A>G | CA462468992 | EXT1 | n.478T>C c.1011T>C (p.Pro337=) c.379T>C c.74-1602T>C (n.74-1602T>C) | |
8 | g.117837153A>T | CA462468991 | EXT1 | n.478T>A c.1011T>A (p.Pro337=) c.379T>A c.74-1602T>A (n.74-1602T>A) | |
8 | g.117837154G>A | CA371893303 | EXT1 | n.477C>T c.1010C>T (p.Pro337Leu) c.378C>T c.74-1603C>T (n.74-1603C>T) | dbSNP gnomAD v4 |
8 | g.117837154G>C | CA371893301 | EXT1 | n.477C>G c.1010C>G (p.Pro337Arg) c.378C>G c.74-1603C>G (n.74-1603C>G) | ClinVar dbSNP |
8 | g.117837154G= | CA1813957395 | EXT1 | n.477C= c.1010C= (p.Pro337=) c.378C= c.74-1603C= (n.74-1603C=) | |
8 | g.117837154G>T | CA371893302 | EXT1 | n.477C>A c.1010C>A (p.Pro337His) c.378C>A c.74-1603C>A (n.74-1603C>A) | |
8 | g.117837155G>A | CA371893304 | EXT1 | n.476C>T c.1009C>T (p.Pro337Ser) c.377C>T c.74-1604C>T (n.74-1604C>T) | dbSNP |
8 | g.117837155G>C | CA371893305 | EXT1 | n.476C>G c.1009C>G (p.Pro337Ala) c.377C>G c.74-1604C>G (n.74-1604C>G) | |
8 | g.117837155G>T | CA371893306 | EXT1 | n.476C>A c.1009C>A (p.Pro337Thr) c.377C>A c.74-1604C>A (n.74-1604C>A) | |
8 | g.117837156A>C | CA462468994 | EXT1 | n.475T>G c.1008T>G (p.Val336=) c.376T>G c.74-1605T>G (n.74-1605T>G) | |
8 | g.117837156A>G | CA462468995 | EXT1 | n.475T>C c.1008T>C (p.Val336=) c.376T>C c.74-1605T>C (n.74-1605T>C) | |
8 | g.117837156A>T | CA462468996 | EXT1 | n.475T>A c.1008T>A (p.Val336=) c.376T>A c.74-1605T>A (n.74-1605T>A) | |
8 | g.117837157A= | CA1813957396 | EXT1 | n.474T= c.1007T= (p.Val336=) c.375T= c.74-1606T= (n.74-1606T=) | |
8 | g.117837157A>C | CA371893307 | EXT1 | n.474T>G c.1007T>G (p.Val336Gly) c.375T>G c.74-1606T>G (n.74-1606T>G) | |
8 | g.117837157A>G | CA184298072 | EXT1 | n.474T>C c.1007T>C (p.Val336Ala) c.375T>C c.74-1606T>C (n.74-1606T>C) | dbSNP gnomAD v4 |
8 | g.117837157A>T | CA371893308 | EXT1 | n.474T>A c.1007T>A (p.Val336Asp) c.375T>A c.74-1606T>A (n.74-1606T>A) | |
8 | g.117837158C>A | CA371893309 | EXT1 | n.473G>T c.1006G>T (p.Val336Phe) c.374G>T c.74-1607G>T (n.74-1607G>T) | |
8 | g.117837158C= | CA1813957397 | EXT1 | n.473G= c.1006G= (p.Val336=) c.374G= c.74-1607G= (n.74-1607G=) | |
8 | g.117837158C>G | CA371893310 | EXT1 | n.473G>C c.1006G>C (p.Val336Leu) c.374G>C c.74-1607G>C (n.74-1607G>C) | |
8 | g.117837158C>T | CA4854268 | EXT1 | n.473G>A c.1006G>A (p.Val336Ile) c.374G>A c.74-1607G>A (n.74-1607G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117837159del | CA2695210041 | EXT1 | n.473del c.1006del (p.Val336PhefsTer23) c.374del c.74-1607del (n.74-1607del) | |
8 | g.117837159C>A | CA462468997 | EXT1 | n.472G>T c.1005G>T (p.Leu335=) c.373G>T c.74-1608G>T (n.74-1608G>T) | |
8 | g.117837159C>G | CA462468998 | EXT1 | n.472G>C c.1005G>C (p.Leu335=) c.373G>C c.74-1608G>C (n.74-1608G>C) | |
8 | g.117837159C>T | CA462468999 | EXT1 | n.472G>A c.1005G>A (p.Leu335=) c.373G>A c.74-1608G>A (n.74-1608G>A) | dbSNP |
8 | g.117837160A>C | CA371893311 | EXT1 | n.471T>G c.1004T>G (p.Leu335Arg) c.372T>G c.74-1609T>G (n.74-1609T>G) | |
8 | g.117837160A>G | CA371893312 | EXT1 | n.471T>C c.1004T>C (p.Leu335Pro) c.372T>C c.74-1609T>C (n.74-1609T>C) | |
8 | g.117837160A>T | CA371893313 | EXT1 | n.471T>A c.1004T>A (p.Leu335Gln) c.372T>A c.74-1609T>A (n.74-1609T>A) | |
8 | g.117837161G>A | CA462469000 | EXT1 | n.470C>T c.1003C>T (p.Leu335=) c.371C>T c.74-1610C>T (n.74-1610C>T) | |
8 | g.117837161G>C | CA371893314 | EXT1 | n.470C>G c.1003C>G (p.Leu335Val) c.371C>G c.74-1610C>G (n.74-1610C>G) | |
8 | g.117837161G>T | CA371893315 | EXT1 | n.470C>A c.1003C>A (p.Leu335Met) c.371C>A c.74-1610C>A (n.74-1610C>A) | COSMIC |
8 | g.117837162A>C | CA371893316 | EXT1 | n.469T>G c.1002T>G (p.Cys334Trp) c.370T>G c.74-1611T>G (n.74-1611T>G) | |
8 | g.117837162A>G | CA462469001 | EXT1 | n.469T>C c.1002T>C (p.Cys334=) c.370T>C c.74-1611T>C (n.74-1611T>C) | |
8 | g.117837162A>T | CA371893317 | EXT1 | n.469T>A c.1002T>A (p.Cys334Ter) c.370T>A c.74-1611T>A (n.74-1611T>A) | |
8 | g.117837163C>A | CA4854270 | EXT1 | n.468G>T c.1001G>T (p.Cys334Phe) c.369G>T c.74-1612G>T (n.74-1612G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.117837163C= | CA1813957398 | EXT1 | n.468G= c.1001G= (p.Cys334=) c.369G= c.74-1612G= (n.74-1612G=) | |
8 | g.117837163C>G | CA371893318 | EXT1 | n.468G>C c.1001G>C (p.Cys334Ser) c.369G>C c.74-1612G>C (n.74-1612G>C) | COSMIC |
8 | g.117837163C>T | CA4854269 | EXT1 | n.468G>A c.1001G>A (p.Cys334Tyr) c.369G>A c.74-1612G>A (n.74-1612G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117837164A= | CA1813957399 | EXT1 | n.467T= c.1000T= (p.Cys334=) c.368T= c.74-1613T= (n.74-1613T=) | |
8 | g.117837164A>C | CA371893319 | EXT1 | n.467T>G c.1000T>G (p.Cys334Gly) c.368T>G c.74-1613T>G (n.74-1613T>G) | |
8 | g.117837164A>G | CA371893320 | EXT1 | n.467T>C c.1000T>C (p.Cys334Arg) c.368T>C c.74-1613T>C (n.74-1613T>C) | ClinVar dbSNP |
8 | g.117837164A>T | CA371893321 | EXT1 | n.467T>A c.1000T>A (p.Cys334Ser) c.368T>A c.74-1613T>A (n.74-1613T>A) | |
8 | g.117837164_117837169del | CA2499219104 | EXT1 | n.462_467del c.995_1000del (p.Thr332_Cys334delinsSer) c.363_368del c.74-1618_74-1613del (n.74-1618_74-1613del) | ClinVar dbSNP |
8 | g.117837165G>A | CA462469002 | EXT1 | n.466C>T c.999C>T (p.Phe333=) c.367C>T c.74-1614C>T (n.74-1614C>T) | |
8 | g.117837165G>C | CA371893322 | EXT1 | n.466C>G c.999C>G (p.Phe333Leu) c.367C>G c.74-1614C>G (n.74-1614C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117837165G= | CA1813957400 | EXT1 | n.466C= c.999C= (p.Phe333=) c.367C= c.74-1614C= (n.74-1614C=) | |
8 | g.117837165G>T | CA184298100 | EXT1 | n.466C>A c.999C>A (p.Phe333Leu) c.367C>A c.74-1614C>A (n.74-1614C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.117837166A= | CA1813957401 | EXT1 | n.465T= c.998T= (p.Phe333=) c.366T= c.74-1615T= (n.74-1615T=) | |
8 | g.117837166A>C | CA371893324 | EXT1 | n.465T>G c.998T>G (p.Phe333Cys) c.366T>G c.74-1615T>G (n.74-1615T>G) | |
8 | g.117837166A>G | CA371893325 | EXT1 | n.465T>C c.998T>C (p.Phe333Ser) c.366T>C c.74-1615T>C (n.74-1615T>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.117837166A>T | CA371893326 | EXT1 | n.465T>A c.998T>A (p.Phe333Tyr) c.366T>A c.74-1615T>A (n.74-1615T>A) | |
8 | g.117837168del | CA2695210042 | EXT1 | n.465del c.998del (p.Phe333SerfsTer26) c.366del c.74-1615del (n.74-1615del) | |
8 | g.117837167A>C | CA371893329 | EXT1 | n.464T>G c.997T>G (p.Phe333Val) c.365T>G c.74-1616T>G (n.74-1616T>G) | |
8 | g.117837167A>G | CA371893327 | EXT1 | n.464T>C c.997T>C (p.Phe333Leu) c.365T>C c.74-1616T>C (n.74-1616T>C) | |
8 | g.117837167A>T | CA371893328 | EXT1 | n.464T>A c.997T>A (p.Phe333Ile) c.365T>A c.74-1616T>A (n.74-1616T>A) | |
8 | g.117837168A>C | CA462469003 | EXT1 | n.463T>G c.996T>G (p.Thr332=) c.364T>G c.74-1617T>G (n.74-1617T>G) | |
8 | g.117837168A>G | CA462469004 | EXT1 | n.463T>C c.996T>C (p.Thr332=) c.364T>C c.74-1617T>C (n.74-1617T>C) | |
8 | g.117837168A>T | CA462469005 | EXT1 | n.463T>A c.996T>A (p.Thr332=) c.364T>A c.74-1617T>A (n.74-1617T>A) | |
8 | g.117837169G>A | CA371893330 | EXT1 | n.462C>T c.995C>T (p.Thr332Ile) c.363C>T c.74-1618C>T (n.74-1618C>T) | dbSNP |
8 | g.117837169G>C | CA371893331 | EXT1 | n.462C>G c.995C>G (p.Thr332Ser) c.363C>G c.74-1618C>G (n.74-1618C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.117837169G= | CA1813957402 | EXT1 | n.462C= c.995C= (p.Thr332=) c.363C= c.74-1618C= (n.74-1618C=) | |
8 | g.117837169G>T | CA371893332 | EXT1 | n.462C>A c.995C>A (p.Thr332Asn) c.363C>A c.74-1618C>A (n.74-1618C>A) | |
8 | g.117837170T>A | CA371893333 | EXT1 | n.461A>T c.994A>T (p.Thr332Ser) c.362A>T c.74-1619A>T (n.74-1619A>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.117837170T>C | CA371893334 | EXT1 | n.461A>G c.994A>G (p.Thr332Ala) c.362A>G c.74-1619A>G (n.74-1619A>G) | |
8 | g.117837170T>G | CA371893335 | EXT1 | n.461A>C c.994A>C (p.Thr332Pro) c.362A>C c.74-1619A>C (n.74-1619A>C) | |
8 | g.117837170T= | CA1813957403 | EXT1 | n.461A= c.994A= (p.Thr332=) c.362A= c.74-1619A= (n.74-1619A=) | |
8 | g.117837171G>A | CA462469006 | EXT1 | n.460C>T c.993C>T (p.Ala331=) c.361C>T c.74-1620C>T (n.74-1620C>T) | dbSNP gnomAD v4 |
8 | g.117837171G>C | CA462469007 | EXT1 | n.460C>G c.993C>G (p.Ala331=) c.361C>G c.74-1620C>G (n.74-1620C>G) | |
8 | g.117837171G= | CA1813957404 | EXT1 | n.460C= c.993C= (p.Ala331=) c.361C= c.74-1620C= (n.74-1620C=) | |
8 | g.117837171G>T | CA462469008 | EXT1 | n.460C>A c.993C>A (p.Ala331=) c.361C>A c.74-1620C>A (n.74-1620C>A) | |
8 | g.117837172G>A | CA371893336 | EXT1 | n.459C>T c.992C>T (p.Ala331Val) c.360C>T c.74-1621C>T (n.74-1621C>T) | dbSNP COSMIC |
8 | g.117837172G>C | CA371893337 | EXT1 | n.459C>G c.992C>G (p.Ala331Gly) c.360C>G c.74-1621C>G (n.74-1621C>G) | |
8 | g.117837172G= | CA1813957405 | EXT1 | n.459C= c.992C= (p.Ala331=) c.360C= c.74-1621C= (n.74-1621C=) | |
8 | g.117837172G>T | CA371893338 | EXT1 | n.459C>A c.992C>A (p.Ala331Asp) c.360C>A c.74-1621C>A (n.74-1621C>A) | ClinVar dbSNP |
8 | g.117837173C>A | CA371893339 | EXT1 | n.458G>T c.991G>T (p.Ala331Ser) c.359G>T c.74-1622G>T (n.74-1622G>T) | |
8 | g.117837173C>G | CA371893340 | EXT1 | n.458G>C c.991G>C (p.Ala331Pro) c.359G>C c.74-1622G>C (n.74-1622G>C) | |
8 | g.117837173C>T | CA371893341 | EXT1 | n.458G>A c.991G>A (p.Ala331Thr) c.359G>A c.74-1622G>A (n.74-1622G>A) | |
8 | g.117837174A= | CA1813957406 | EXT1 | n.457T= c.990T= (p.Asn330=) c.358T= c.74-1623T= (n.74-1623T=) | |
8 | g.117837174A>C | CA371893342 | EXT1 | n.457T>G c.990T>G (p.Asn330Lys) c.358T>G c.74-1623T>G (n.74-1623T>G) | |
8 | g.117837174A>G | CA462469009 | EXT1 | n.457T>C c.990T>C (p.Asn330=) c.358T>C c.74-1623T>C (n.74-1623T>C) | dbSNP |
8 | g.117837174A>T | CA371893343 | EXT1 | n.457T>A c.990T>A (p.Asn330Lys) c.358T>A c.74-1623T>A (n.74-1623T>A) | |
8 | g.117837175T>A | CA371893344 | EXT1 | n.456A>T c.989A>T (p.Asn330Ile) c.357A>T c.74-1624A>T (n.74-1624A>T) | |
8 | g.117837175T>C | CA371893346 | EXT1 | n.456A>G c.989A>G (p.Asn330Ser) c.357A>G c.74-1624A>G (n.74-1624A>G) | gnomAD v4 |
8 | g.117837175T>G | CA371893345 | EXT1 | n.456A>C c.989A>C (p.Asn330Thr) c.357A>C c.74-1624A>C (n.74-1624A>C) | |
8 | g.117837175T= | CA1813957407 | EXT1 | n.456A= c.989A= (p.Asn330=) c.357A= c.74-1624A= (n.74-1624A=) | |
8 | g.117837175_117837176insGA | CA891843292 | EXT1 | n.455_456insTC c.988_989insTC (p.Asn330IlefsTer30) c.356_357insTC c.74-1625_74-1624insTC (n.74-1625_74-1624insTC) | ClinVar dbSNP |
8 | g.117837176T>A | CA371893347 | EXT1 | n.455A>T c.988A>T (p.Asn330Tyr) c.356A>T c.74-1625A>T (n.74-1625A>T) | |
8 | g.117837176T>C | CA371893348 | EXT1 | n.455A>G c.988A>G (p.Asn330Asp) c.356A>G c.74-1625A>G (n.74-1625A>G) | |
8 | g.117837176T>G | CA371893349 | EXT1 | n.455A>C c.988A>C (p.Asn330His) c.356A>C c.74-1625A>C (n.74-1625A>C) | |
8 | g.117837177G>A | CA462469010 | EXT1 | n.454C>T c.987C>T (p.His329=) c.355C>T c.74-1626C>T (n.74-1626C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.117837177G>C | CA371893350 | EXT1 | n.454C>G c.987C>G (p.His329Gln) c.355C>G c.74-1626C>G (n.74-1626C>G) | gnomAD v4 |
8 | g.117837177G= | CA1813957408 | EXT1 | n.454C= c.987C= (p.His329=) c.355C= c.74-1626C= (n.74-1626C=) | |
8 | g.117837177G>T | CA371893351 | EXT1 | n.454C>A c.987C>A (p.His329Gln) c.355C>A c.74-1626C>A (n.74-1626C>A) | |
8 | g.117837178T>A | CA371893352 | EXT1 | n.453A>T c.986A>T (p.His329Leu) c.354A>T c.74-1627A>T (n.74-1627A>T) | |
8 | g.117837178T>C | CA371893353 | EXT1 | n.453A>G c.986A>G (p.His329Arg) c.354A>G c.74-1627A>G (n.74-1627A>G) | dbSNP gnomAD v4 |
8 | g.117837178T>G | CA4854271 | EXT1 | n.453A>C c.986A>C (p.His329Pro) c.354A>C c.74-1627A>C (n.74-1627A>C) | dbSNP ExAC gnomAD v2 |
8 | g.117837178T= | CA1813957409 | EXT1 | n.453A= c.986A= (p.His329=) c.354A= c.74-1627A= (n.74-1627A=) | |
8 | g.117837179G>A | CA371893354 | EXT1 | n.452C>T c.985C>T (p.His329Tyr) c.353C>T c.74-1628C>T (n.74-1628C>T) | |
8 | g.117837179G>C | CA371893355 | EXT1 | n.452C>G c.985C>G (p.His329Asp) c.353C>G c.74-1628C>G (n.74-1628C>G) | |
8 | g.117837179G>T | CA371893356 | EXT1 | n.452C>A c.985C>A (p.His329Asn) c.353C>A c.74-1628C>A (n.74-1628C>A) | |
8 | g.117837180C>A | CA462469011 | EXT1 | n.451G>T c.984G>T (p.Leu328=) c.352G>T c.74-1629G>T (n.74-1629G>T) | |
8 | g.117837180C>G | CA462469012 | EXT1 | n.451G>C c.984G>C (p.Leu328=) c.352G>C c.74-1629G>C (n.74-1629G>C) | |
8 | g.117837180C>T | CA462469013 | EXT1 | n.451G>A c.984G>A (p.Leu328=) c.352G>A c.74-1629G>A (n.74-1629G>A) | dbSNP |
8 | g.117837181A>C | CA371893359 | EXT1 | n.450T>G c.983T>G (p.Leu328Arg) c.351T>G c.74-1630T>G (n.74-1630T>G) | |
8 | g.117837181A>G | CA371893358 | EXT1 | n.450T>C c.983T>C (p.Leu328Pro) c.351T>C c.74-1630T>C (n.74-1630T>C) | gnomAD v4 |
8 | g.117837181A>T | CA371893357 | EXT1 | n.450T>A c.983T>A (p.Leu328Gln) c.351T>A c.74-1630T>A (n.74-1630T>A) | |
8 | g.117837182G>A | CA4854272 | EXT1 | n.449C>T c.982C>T (p.Leu328=) c.350C>T c.74-1631C>T (n.74-1631C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.117837182G>C | CA371893360 | EXT1 | n.449C>G c.982C>G (p.Leu328Val) c.350C>G c.74-1631C>G (n.74-1631C>G) | |
8 | g.117837182G= | CA1813957410 | EXT1 | n.449C= c.982C= (p.Leu328=) c.350C= c.74-1631C= (n.74-1631C=) | |
8 | g.117837182G>T | CA371893361 | EXT1 | n.449C>A c.982C>A (p.Leu328Met) c.350C>A c.74-1631C>A (n.74-1631C>A) | |
8 | g.117837183C>A | CA371893362 | EXT1 | n.448G>T c.981G>T (p.Met327Ile) c.349G>T c.74-1632G>T (n.74-1632G>T) | |
8 | g.117837183C>G | CA371893363 | EXT1 | n.448G>C c.981G>C (p.Met327Ile) c.349G>C c.74-1632G>C (n.74-1632G>C) | |
8 | g.117837183C>T | CA371893364 | EXT1 | n.448G>A c.981G>A (p.Met327Ile) c.349G>A c.74-1632G>A (n.74-1632G>A) | gnomAD v4 |
8 | g.117837184A= | CA1813957411 | EXT1 | n.447T= c.980T= (p.Met327=) c.348T= c.74-1633T= (n.74-1633T=) | |
8 | g.117837184A>C | CA371893365 | EXT1 | n.447T>G c.980T>G (p.Met327Arg) c.348T>G c.74-1633T>G (n.74-1633T>G) | |
8 | g.117837184A>G | CA371893366 | EXT1 | n.447T>C c.980T>C (p.Met327Thr) c.348T>C c.74-1633T>C (n.74-1633T>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.117837184A>T | CA371893367 | EXT1 | n.447T>A c.980T>A (p.Met327Lys) c.348T>A c.74-1633T>A (n.74-1633T>A) | |
8 | g.117837185T>A | CA371893368 | EXT1 | n.446A>T c.979A>T (p.Met327Leu) c.347A>T c.74-1634A>T (n.74-1634A>T) | |
8 | g.117837185T>C | CA371893369 | EXT1 | n.446A>G c.979A>G (p.Met327Val) c.347A>G c.74-1634A>G (n.74-1634A>G) | |
8 | g.117837185T>G | CA371893370 | EXT1 | n.446A>C c.979A>C (p.Met327Leu) c.347A>C c.74-1634A>C (n.74-1634A>C) | |
8 | g.117837186T>A | CA371893372 | EXT1 | n.445A>T c.978A>T (p.Glu326Asp) c.346A>T c.74-1635A>T (n.74-1635A>T) | |
8 | g.117837186T>C | CA462469015 | EXT1 | n.445A>G c.978A>G (p.Glu326=) c.346A>G c.74-1635A>G (n.74-1635A>G) | ClinVar dbSNP gnomAD v4 |
8 | g.117837186T>G | CA371893371 | EXT1 | n.445A>C c.978A>C (p.Glu326Asp) c.346A>C c.74-1635A>C (n.74-1635A>C) | gnomAD v4 |
8 | g.117837187T>A | CA371893373 | EXT1 | n.444A>T c.977A>T (p.Glu326Val) c.345A>T c.74-1636A>T (n.74-1636A>T) | |
8 | g.117837187T>C | CA371893374 | EXT1 | n.444A>G c.977A>G (p.Glu326Gly) c.345A>G c.74-1636A>G (n.74-1636A>G) | ClinVar |
8 | g.117837187T>G | CA371893375 | EXT1 | n.444A>C c.977A>C (p.Glu326Ala) c.345A>C c.74-1636A>C (n.74-1636A>C) | |
8 | g.117837188C>A | CA371893376 | EXT1 | n.443G>T c.976G>T (p.Glu326Ter) c.344G>T c.74-1637G>T (n.74-1637G>T) | |
8 | g.117837188C>G | CA371893377 | EXT1 | n.443G>C c.976G>C (p.Glu326Gln) c.344G>C c.74-1637G>C (n.74-1637G>C) | |
8 | g.117837188C>T | CA371893378 | EXT1 | n.443G>A c.976G>A (p.Glu326Lys) c.344G>A c.74-1637G>A (n.74-1637G>A) | |
8 | g.117837190del | CA2695210043 | EXT1 | n.443del c.976del (p.Glu326LysfsTer?) c.344del c.74-1637del (n.74-1637del) | ClinVar |
8 | g.117837189C>A | CA462469017 | EXT1 | n.442G>T c.975G>T (p.Arg325=) c.343G>T c.74-1638G>T (n.74-1638G>T) | dbSNP |
8 | g.117837189C>G | CA462469018 | EXT1 | n.442G>C c.975G>C (p.Arg325=) c.343G>C c.74-1638G>C (n.74-1638G>C) | |
8 | g.117837189C>T | CA462469019 | EXT1 | n.442G>A c.975G>A (p.Arg325=) c.343G>A c.74-1638G>A (n.74-1638G>A) | gnomAD v4 |
8 | g.117837190C>A | CA371893379 | EXT1 | n.441G>T c.974G>T (p.Arg325Leu) c.342G>T c.74-1639G>T (n.74-1639G>T) | |
8 | g.117837190C= | CA1813957412 | EXT1 | n.441G= c.974G= (p.Arg325=) c.342G= c.74-1639G= (n.74-1639G=) | |
8 | g.117837190C>G | CA371893380 | EXT1 | n.441G>C c.974G>C (p.Arg325Pro) c.342G>C c.74-1639G>C (n.74-1639G>C) | |
8 | g.117837190C>T | CA4854273 | EXT1 | n.441G>A c.974G>A (p.Arg325Gln) c.342G>A c.74-1639G>A (n.74-1639G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.117837191_117837197del | CA2695210044 | EXT1 | n.435_441del c.968_974del (p.Asp323GlyfsTer?) c.336_342del c.74-1645_74-1639del (n.74-1645_74-1639del) | |
8 | g.117837191G>A | CA371893381 | EXT1 | n.440C>T c.973C>T (p.Arg325Trp) c.341C>T c.74-1640C>T (n.74-1640C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.117837191G>C | CA371893382 | EXT1 | n.440C>G c.973C>G (p.Arg325Gly) c.341C>G c.74-1640C>G (n.74-1640C>G) | |
8 | g.117837191G= | CA1813957413 | EXT1 | n.440C= c.973C= (p.Arg325=) c.341C= c.74-1640C= (n.74-1640C=) | |
8 | g.117837191G>T | CA462469020 | EXT1 | n.440C>A c.973C>A (p.Arg325=) c.341C>A c.74-1640C>A (n.74-1640C>A) | dbSNP gnomAD v4 |
8 | g.117837192A= | CA1813957414 | EXT1 | n.439T= c.972T= (p.Tyr324=) c.340T= c.74-1641T= (n.74-1641T=) | |
8 | g.117837192A>C | CA371893383 | EXT1 | n.439T>G c.972T>G (p.Tyr324Ter) c.340T>G c.74-1641T>G (n.74-1641T>G) | |
8 | g.117837192A>G | CA462469021 | EXT1 | n.439T>C c.972T>C (p.Tyr324=) c.340T>C c.74-1641T>C (n.74-1641T>C) | dbSNP |
8 | g.117837192A>T | CA371893384 | EXT1 | n.439T>A c.972T>A (p.Tyr324Ter) c.340T>A c.74-1641T>A (n.74-1641T>A) | ClinVar dbSNP |
8 | g.117837195_117837200del | CA2695210045 | EXT1 | n.434_439del c.967_972del (p.Asp323_Tyr324del) c.335_340del c.74-1646_74-1641del (n.74-1646_74-1641del) | |
8 | g.117837193T>A | CA371893386 | EXT1 | n.438A>T c.971A>T (p.Tyr324Phe) c.339A>T c.74-1642A>T (n.74-1642A>T) | |
8 | g.117837193T>C | CA184298137 | EXT1 | n.438A>G c.971A>G (p.Tyr324Cys) c.339A>G c.74-1642A>G (n.74-1642A>G) | dbSNP gnomAD v4 |
8 | g.117837193T>G | CA371893385 | EXT1 | n.438A>C c.971A>C (p.Tyr324Ser) c.339A>C c.74-1642A>C (n.74-1642A>C) | |
8 | g.117837193T= | CA1813957415 | EXT1 | n.438A= c.971A= (p.Tyr324=) c.339A= c.74-1642A= (n.74-1642A=) | |
8 | g.117837194A>C | CA371893387 | EXT1 | n.437T>G c.970T>G (p.Tyr324Asp) c.338T>G c.74-1643T>G (n.74-1643T>G) | |
8 | g.117837194A>G | CA371893388 | EXT1 | n.437T>C c.970T>C (p.Tyr324His) c.338T>C c.74-1643T>C (n.74-1643T>C) | |
8 | g.117837194A>T | CA371893389 | EXT1 | n.437T>A c.970T>A (p.Tyr324Asn) c.338T>A c.74-1643T>A (n.74-1643T>A) | |
8 | g.117837195A>C | CA371893390 | EXT1 | n.436T>G c.969T>G (p.Asp323Glu) c.337T>G c.74-1644T>G (n.74-1644T>G) | |
8 | g.117837195A>G | CA462469022 | EXT1 | n.436T>C c.969T>C (p.Asp323=) c.337T>C c.74-1644T>C (n.74-1644T>C) | ClinVar |
8 | g.117837195A>T | CA371893391 | EXT1 | n.436T>A c.969T>A (p.Asp323Glu) c.337T>A c.74-1644T>A (n.74-1644T>A) | |
8 | g.117837196T>A | CA371893394 | EXT1 | n.435A>T c.968A>T (p.Asp323Val) c.336A>T c.74-1645A>T (n.74-1645A>T) | |
8 | g.117837196T>C | CA371893392 | EXT1 | n.435A>G c.968A>G (p.Asp323Gly) c.336A>G c.74-1645A>G (n.74-1645A>G) | |
8 | g.117837196T>G | CA371893393 | EXT1 | n.435A>C c.968A>C (p.Asp323Ala) c.336A>C c.74-1645A>C (n.74-1645A>C) | |
8 | g.117837196_117837197insTGGC | CA2499531210 | EXT1 | n.434_435insGCCA c.967_968insGCCA (p.Asp323GlyfsTer?) c.335_336insGCCA c.74-1646_74-1645insGCCA (n.74-1646_74-1645insGCCA) | |
8 | g.117837197C>A | CA371893395 | EXT1 | n.434G>T c.967G>T (p.Asp323Tyr) c.335G>T c.74-1646G>T (n.74-1646G>T) | |
8 | g.117837197C>G | CA371893396 | EXT1 | n.434G>C c.967G>C (p.Asp323His) c.335G>C c.74-1646G>C (n.74-1646G>C) | |
8 | g.117837197C>T | CA371893397 | EXT1 | n.434G>A c.967G>A (p.Asp323Asn) c.335G>A c.74-1646G>A (n.74-1646G>A) | COSMIC |
8 | g.117837198A= | CA1813957416 | EXT1 | n.433T= c.966T= (p.Tyr322=) c.334T= c.74-1647T= (n.74-1647T=) | |
8 | g.117837198A>C | CA371893398 | EXT1 | n.433T>G c.966T>G (p.Tyr322Ter) c.334T>G c.74-1647T>G (n.74-1647T>G) | |
8 | g.117837198A>G | CA462469023 | EXT1 | n.433T>C c.966T>C (p.Tyr322=) c.334T>C c.74-1647T>C (n.74-1647T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117837198A>T | CA371893399 | EXT1 | n.433T>A c.966T>A (p.Tyr322Ter) c.334T>A c.74-1647T>A (n.74-1647T>A) | |
8 | g.117837198_117837199insGTTCGCCCTCCGCAAATTCAAACGCAGGCAAGTCTGCCTGTTCGCTTGCCTCACGGCTTTTGCGCGACCACAGCTCAATCATCTTTTCGTAAAACTCAACCTGTCCCATGATTAACGACGATTCT | CA2520806373 | EXT1 | n.432_433insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC c.965_966insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC (p.Tyr322Ter) c.333_334insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC c.74-1648_74-1647insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC (n.74-1648_74-1647insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC) | |
8 | g.117837199T>A | CA371893400 | EXT1 | n.432A>T c.965A>T (p.Tyr322Phe) c.333A>T c.74-1648A>T (n.74-1648A>T) | |
8 | g.117837199T>C | CA184298142 | EXT1 | n.432A>G c.965A>G (p.Tyr322Cys) c.333A>G c.74-1648A>G (n.74-1648A>G) | dbSNP |
8 | g.117837199T>G | CA371893401 | EXT1 | n.432A>C c.965A>C (p.Tyr322Ser) c.333A>C c.74-1648A>C (n.74-1648A>C) | |
8 | g.117837199T= | CA1813957417 | EXT1 | n.432A= c.965A= (p.Tyr322=) c.333A= c.74-1648A= (n.74-1648A=) | |
8 | g.117837200A>C | CA371893402 | EXT1 | n.431T>G c.964T>G (p.Tyr322Asp) c.332T>G c.74-1649T>G (n.74-1649T>G) | |
8 | g.117837200A>G | CA371893404 | EXT1 | n.431T>C c.964T>C (p.Tyr322His) c.332T>C c.74-1649T>C (n.74-1649T>C) | |
8 | g.117837200A>T | CA371893403 | EXT1 | n.431T>A c.964T>A (p.Tyr322Asn) c.332T>A c.74-1649T>A (n.74-1649T>A) | |
8 | g.117837201C>A | CA371893405 | EXT1 | n.430G>T c.963G>T (p.Lys321Asn) c.331G>T c.74-1650G>T (n.74-1650G>T) | dbSNP gnomAD v4 |
8 | g.117837201C= | CA1813957418 | EXT1 | n.430G= c.963G= (p.Lys321=) c.331G= c.74-1650G= (n.74-1650G=) | |
8 | g.117837201C>G | CA371893406 | EXT1 | n.430G>C c.963G>C (p.Lys321Asn) c.331G>C c.74-1650G>C (n.74-1650G>C) | gnomAD v4 |
8 | g.117837201C>T | CA4854274 | EXT1 | n.430G>A c.963G>A (p.Lys321=) c.331G>A c.74-1650G>A (n.74-1650G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117837201_117837202insTTCTCATACTCGGTGTTGT | CA2718165322 | EXT1 | n.430-1_430insACAACACCGAGTATGAGAA c.963-1_963insACAACACCGAGTATGAGAA (n.963-1_963insACAACACCGAGTATGAGAA) c.331-1_331insACAACACCGAGTATGAGAA c.74-1651_74-1650insACAACACCGAGTATGAGAA (n.74-1651_74-1650insACAACACCGAGTATGAGAA) | dbSNP |
8 | g.117837202C>A | CA371893407 | EXT1 | n.430-1G>T c.963-1G>T (n.963-1G>T) c.331-1G>T c.74-1651G>T (n.74-1651G>T) | |
8 | g.117837202C= | CA1813957419 | EXT1 | n.430-1G= c.963-1G= (n.963-1G=) c.331-1G= c.74-1651G= (n.74-1651G=) | |
8 | g.117837202C>G | CA371893409 | EXT1 | n.430-1G>C c.963-1G>C (n.963-1G>C) c.331-1G>C c.74-1651G>C (n.74-1651G>C) | ClinVar dbSNP |
8 | g.117837202C>T | CA371893408 | EXT1 | n.430-1G>A c.963-1G>A (n.963-1G>A) c.331-1G>A c.74-1651G>A (n.74-1651G>A) | |
8 | g.117837203T>A | CA371893410 | EXT1 | n.430-2A>T c.963-2A>T (n.963-2A>T) c.331-2A>T c.74-1652A>T (n.74-1652A>T) | |
8 | g.117837203T>C | CA371893411 | EXT1 | n.430-2A>G c.963-2A>G (n.963-2A>G) c.331-2A>G c.74-1652A>G (n.74-1652A>G) | ClinVar dbSNP |
8 | g.117837203T>G | CA371893412 | EXT1 | n.430-2A>C c.963-2A>C (n.963-2A>C) c.331-2A>C c.74-1652A>C (n.74-1652A>C) | |
8 | g.117837203T= | CA1813957420 | EXT1 | n.430-2A= c.963-2A= (n.963-2A=) c.331-2A= c.74-1652A= (n.74-1652A=) | |
8 | g.117837204A>T | CA2688346843 | EXT1 | n.430-3T>A c.963-3T>A (n.963-3T>A) c.331-3T>A c.74-1653T>A (n.74-1653T>A) | gnomAD v4 |
8 | g.117837206A>G | CA2688346844 | EXT1 | n.430-5T>C c.963-5T>C (n.963-5T>C) c.331-5T>C c.74-1655T>C (n.74-1655T>C) | gnomAD v4 |
8 | g.117837208dup | CA913128264 | EXT1 | n.430-5dup c.963-5dup (n.963-5dup) c.331-5dup c.74-1655dup (n.74-1655dup) | ClinVar dbSNP |
8 | g.117837206_117837211delinsAAAGAG | CA1813957421 | EXT1 | n.430-10_430-5delinsCTCTTT c.963-10_963-5delinsCTCTTT (n.963-10_963-5delinsCTCTTT) c.331-10_331-5delinsCTCTTT c.74-1660_74-1655delinsCTCTTT (n.74-1660_74-1655delinsCTCTTT) |