Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.48362651_48362982delCA645578623RB1c.719-164_861+25del
c.458-164_600+25del
 COSMIC COSMIC
13g.48362864T>ACA483557869RB1c.768T>A (p.Gly256=)
c.*136T>A (n.*136T>A)
c.507T>A (p.Gly169=)
 dbSNP
13g.48362864T>CCA483557870RB1c.768T>C (p.Gly256=)
c.*136T>C (n.*136T>C)
c.507T>C (p.Gly169=)
13g.48362864T>GCA483557871RB1c.768T>G (p.Gly256=)
c.*136T>G (n.*136T>G)
c.507T>G (p.Gly169=)
 dbSNP gnomAD v4
13g.48362864dupCA2499222434RB1c.768dup (p.Gln257SerfsTer14)
c.*136dup (n.*136dup)
c.507dup (p.Gln170SerfsTer14)
 ClinVar dbSNP
13g.48362864_48362869delinsTCAGAACA2089981477RB1c.768_773delinsTCAGAA (p.Gly256=)
c.*136_*141delinsTCAGAA (n.*136_*141delinsTCAGAA)
c.507_512delinsTCAGAA (p.Gly169=)
13g.48362865C>ACA388159369RB1c.769C>A (p.Gln257Lys)
c.*137C>A (n.*137C>A)
c.508C>A (p.Gln170Lys)
13g.48362865C>GCA388159370RB1c.769C>G (p.Gln257Glu)
c.*137C>G (n.*137C>G)
c.508C>G (p.Gln170Glu)
 dbSNP
13g.48362865C>TCA388159372RB1c.769C>T (p.Gln257Ter)
c.*137C>T (n.*137C>T)
c.508C>T (p.Gln170Ter)
 dbSNP COSMIC COSMIC
13g.48362868_48362872delCA645578628RB1c.772_776del (p.Asn258GlufsTer11)
c.*140_*144del (n.*140_*144del)
c.511_515del (p.Asn171GlufsTer11)
 ClinVar dbSNP gnomAD v4 COSMIC
13g.48362866A=CA2089981478RB1c.770A= (p.Gln257=)
c.*138A= (n.*138A=)
c.509A= (p.Gln170=)
13g.48362866A>CCA388159374RB1c.770A>C (p.Gln257Pro)
c.*138A>C (n.*138A>C)
c.509A>C (p.Gln170Pro)
13g.48362866A>GCA388159375RB1c.770A>G (p.Gln257Arg)
c.*138A>G (n.*138A>G)
c.509A>G (p.Gln170Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
13g.48362866A>TCA388159377RB1c.770A>T (p.Gln257Leu)
c.*138A>T (n.*138A>T)
c.509A>T (p.Gln170Leu)
 dbSNP
13g.48362867_48362868dupCA2695218353RB1c.771_772dup (p.Asn258ArgfsTer7)
c.*139_*140dup (n.*139_*140dup)
c.510_511dup (p.Asn171ArgfsTer7)
13g.48362867_48362868delCA2695218352RB1c.771_772del (p.Asn258GlnfsTer12)
c.*139_*140del (n.*139_*140del)
c.510_511del (p.Asn171GlnfsTer12)
 ClinVar
13g.48362867G>ACA483557872RB1c.771G>A (p.Gln257=)
c.*139G>A (n.*139G>A)
c.510G>A (p.Gln170=)
 dbSNP
13g.48362867G>CCA388159381RB1c.771G>C (p.Gln257His)
c.*139G>C (n.*139G>C)
c.510G>C (p.Gln170His)
 dbSNP
13g.48362867G>TCA388159379RB1c.771G>T (p.Gln257His)
c.*139G>T (n.*139G>T)
c.510G>T (p.Gln170His)
13g.48362868A>CCA388159382RB1c.772A>C (p.Asn258His)
c.*140A>C (n.*140A>C)
c.511A>C (p.Asn171His)
13g.48362868A>GCA388159384RB1c.772A>G (p.Asn258Asp)
c.*140A>G (n.*140A>G)
c.511A>G (p.Asn171Asp)
 ClinVar
13g.48362868A>TCA388159385RB1c.772A>T (p.Asn258Tyr)
c.*140A>T (n.*140A>T)
c.511A>T (p.Asn171Tyr)
13g.48362869delCA483557873RB1c.773del (p.Asn258ThrfsTer6)
c.*141del (n.*141del)
c.512del (p.Asn171ThrfsTer6)
 COSMIC
13g.48362869A=CA2089981479RB1c.773A= (p.Asn258=)
c.*141A= (n.*141A=)
c.512A= (p.Asn171=)
13g.48362869A>CCA388159387RB1c.773A>C (p.Asn258Thr)
c.*141A>C (n.*141A>C)
c.512A>C (p.Asn171Thr)
13g.48362869A>GCA388159389RB1c.773A>G (p.Asn258Ser)
c.*141A>G (n.*141A>G)
c.512A>G (p.Asn171Ser)
 ClinVar dbSNP
13g.48362869A>TCA388159390RB1c.773A>T (p.Asn258Ile)
c.*141A>T (n.*141A>T)
c.512A>T (p.Asn171Ile)
13g.48362870C>ACA388159391RB1c.774C>A (p.Asn258Lys)
c.*142C>A (n.*142C>A)
c.513C>A (p.Asn171Lys)
13g.48362870C>GCA388159393RB1c.774C>G (p.Asn258Lys)
c.*142C>G (n.*142C>G)
c.513C>G (p.Asn171Lys)
 dbSNP
13g.48362870C>TCA483557874RB1c.774C>T (p.Asn258=)
c.*142C>T (n.*142C>T)
c.513C>T (p.Asn171=)
 ClinVar dbSNP
13g.48362870_48362876dupCA2695218355RB1c.774_780dup (p.Ala261GlnfsTer12)
c.*142_*148dup (n.*142_*148dup)
c.513_519dup (p.Ala174GlnfsTer12)
13g.48362871A=CA2089981480RB1c.775A= (p.Arg259=)
c.*143A= (n.*143A=)
c.514A= (p.Arg172=)
13g.48362871A>CCA483557875RB1c.775A>C (p.Arg259=)
c.*143A>C (n.*143A>C)
c.514A>C (p.Arg172=)
13g.48362871A>GCA388159395RB1c.775A>G (p.Arg259Gly)
c.*143A>G (n.*143A>G)
c.514A>G (p.Arg172Gly)
 dbSNP gnomAD v2 gnomAD v4
13g.48362871A>TCA388159397RB1c.775A>T (p.Arg259Trp)
c.*143A>T (n.*143A>T)
c.514A>T (p.Arg172Trp)
 ClinVar dbSNP
13g.48362872G>ACA388159398RB1c.776G>A (p.Arg259Lys)
c.*144G>A (n.*144G>A)
c.515G>A (p.Arg172Lys)
 dbSNP
13g.48362872G>CCA388159399RB1c.776G>C (p.Arg259Thr)
c.*144G>C (n.*144G>C)
c.515G>C (p.Arg172Thr)
 ClinVar dbSNP
13g.48362872G>TCA388159401RB1c.776G>T (p.Arg259Met)
c.*144G>T (n.*144G>T)
c.515G>T (p.Arg172Met)
13g.48362873delCA2695218356RB1c.777del (p.Ser260ValfsTer4)
c.*145del (n.*145del)
c.516del (p.Ser173ValfsTer4)
13g.48362873G>ACA483557876RB1c.777G>A (p.Arg259=)
c.*145G>A (n.*145G>A)
c.516G>A (p.Arg172=)
 dbSNP
13g.48362873G>CCA388159403RB1c.777G>C (p.Arg259Ser)
c.*145G>C (n.*145G>C)
c.516G>C (p.Arg172Ser)
 dbSNP
13g.48362873G>TCA388159404RB1c.777G>T (p.Arg259Ser)
c.*145G>T (n.*145G>T)
c.516G>T (p.Arg172Ser)
13g.48362874A>CCA388159406RB1c.778A>C (p.Ser260Arg)
c.*146A>C (n.*146A>C)
c.517A>C (p.Ser173Arg)
13g.48362874A>GCA388159407RB1c.778A>G (p.Ser260Gly)
c.*146A>G (n.*146A>G)
c.517A>G (p.Ser173Gly)
 gnomAD v4
13g.48362874A>TCA388159408RB1c.778A>T (p.Ser260Cys)
c.*146A>T (n.*146A>T)
c.517A>T (p.Ser173Cys)
 dbSNP
13g.48362875G>ACA388159409RB1c.779G>A (p.Ser260Asn)
c.*147G>A (n.*147G>A)
c.518G>A (p.Ser173Asn)
 ClinVar dbSNP
13g.48362875G>CCA388159411RB1c.779G>C (p.Ser260Thr)
c.*147G>C (n.*147G>C)
c.518G>C (p.Ser173Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48362875G=CA2089981481RB1c.779G= (p.Ser260=)
c.*147G= (n.*147G=)
c.518G= (p.Ser173=)
13g.48362875G>TCA388159412RB1c.779G>T (p.Ser260Ile)
c.*147G>T (n.*147G>T)
c.518G>T (p.Ser173Ile)
13g.48362876T>ACA388159414RB1c.780T>A (p.Ser260Arg)
c.*148T>A (n.*148T>A)
c.519T>A (p.Ser173Arg)
 dbSNP
13g.48362876T>CCA483557877RB1c.780T>C (p.Ser260=)
c.*148T>C (n.*148T>C)
c.519T>C (p.Ser173=)
13g.48362876T>GCA388159416RB1c.780T>G (p.Ser260Arg)
c.*148T>G (n.*148T>G)
c.519T>G (p.Ser173Arg)
 dbSNP
13g.48362877G>ACA388159417RB1c.781G>A (p.Ala261Thr)
c.*149G>A (n.*149G>A)
c.520G>A (p.Ala174Thr)
 dbSNP
13g.48362877G>CCA388159419RB1c.781G>C (p.Ala261Pro)
c.*149G>C (n.*149G>C)
c.520G>C (p.Ala174Pro)
 dbSNP
13g.48362877G>TCA388159420RB1c.781G>T (p.Ala261Ser)
c.*149G>T (n.*149G>T)
c.520G>T (p.Ala174Ser)
 COSMIC COSMIC
13g.48362878C>ACA388159422RB1c.782C>A (p.Ala261Glu)
c.*150C>A (n.*150C>A)
c.521C>A (p.Ala174Glu)
13g.48362878C=CA2089981482RB1c.782C= (p.Ala261=)
c.*150C= (n.*150C=)
c.521C= (p.Ala174=)
13g.48362878C>GCA388159424RB1c.782C>G (p.Ala261Gly)
c.*150C>G (n.*150C>G)
c.521C>G (p.Ala174Gly)
 dbSNP
13g.48362878C>TCA039490RB1c.782C>T (p.Ala261Val)
c.*150C>T (n.*150C>T)
c.521C>T (p.Ala174Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.48362879A=CA2089981483RB1c.783A= (p.Ala261=)
c.*151A= (n.*151A=)
c.522A= (p.Ala174=)
13g.48362879A>CCA483557878RB1c.783A>C (p.Ala261=)
c.*151A>C (n.*151A>C)
c.522A>C (p.Ala174=)
13g.48362879A>GCA039509RB1c.783A>G (p.Ala261=)
c.*151A>G (n.*151A>G)
c.522A>G (p.Ala174=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48362879A>TCA483557879RB1c.783A>T (p.Ala261=)
c.*151A>T (n.*151A>T)
c.522A>T (p.Ala174=)
 dbSNP
13g.48362880C>ACA483557880RB1c.784C>A (p.Arg262=)
c.*152C>A (n.*152C>A)
c.523C>A (p.Arg175=)
 dbSNP
13g.48362880C=CA2089981484RB1c.784C= (p.Arg262=)
c.*152C= (n.*152C=)
c.523C= (p.Arg175=)
13g.48362880C>GCA388159426RB1c.784C>G (p.Arg262Gly)
c.*152C>G (n.*152C>G)
c.523C>G (p.Arg175Gly)
 dbSNP
13g.48362880C>TCA16614007RB1c.784C>T (p.Arg262Trp)
c.*152C>T (n.*152C>T)
c.523C>T (p.Arg175Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
13g.48362880_48362883delinsGAACAGTTGTTCCA2695218358RB1c.784_787delinsGAACAGTTGTTC (p.Arg262GlufsTer5)
c.*152_*155delinsGAACAGTTGTTC (n.*152_*155delinsGAACAGTTGTTC)
c.523_526delinsGAACAGTTGTTC (p.Arg175GlufsTer5)
13g.48362881G>ACA039524RB1c.785G>A (p.Arg262Gln)
c.*153G>A (n.*153G>A)
c.524G>A (p.Arg175Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.48362881G>CCA388159429RB1c.785G>C (p.Arg262Pro)
c.*153G>C (n.*153G>C)
c.524G>C (p.Arg175Pro)
13g.48362881G=CA2089981485RB1c.785G= (p.Arg262=)
c.*153G= (n.*153G=)
c.524G= (p.Arg175=)
13g.48362881G>TCA388159430RB1c.785G>T (p.Arg262Leu)
c.*153G>T (n.*153G>T)
c.524G>T (p.Arg175Leu)
13g.48362882delCA483557881RB1c.786del (p.Ile263Ter)
c.*154del (n.*154del)
c.525del (p.Ile176Ter)
 COSMIC
13g.48362882G>ACA483557882RB1c.786G>A (p.Arg262=)
c.*154G>A (n.*154G>A)
c.525G>A (p.Arg175=)
 dbSNP
13g.48362882G>CCA483557883RB1c.786G>C (p.Arg262=)
c.*154G>C (n.*154G>C)
c.525G>C (p.Arg175=)
 dbSNP
13g.48362882G>TCA483557884RB1c.786G>T (p.Arg262=)
c.*154G>T (n.*154G>T)
c.525G>T (p.Arg175=)
 dbSNP
13g.48362883delCA2573149562RB1c.787del (p.Ile263Ter)
c.*155del (n.*155del)
c.526del (p.Ile176Ter)
 ClinVar dbSNP
13g.48362883A>CCA388159431RB1c.787A>C (p.Ile263Leu)
c.*155A>C (n.*155A>C)
c.526A>C (p.Ile176Leu)
 gnomAD v4
13g.48362883A>GCA388159433RB1c.787A>G (p.Ile263Val)
c.*155A>G (n.*155A>G)
c.526A>G (p.Ile176Val)
 ClinVar
13g.48362883A>TCA388159435RB1c.787A>T (p.Ile263Leu)
c.*155A>T (n.*155A>T)
c.526A>T (p.Ile176Leu)
13g.48362884T>ACA388159436RB1c.788T>A (p.Ile263Lys)
c.*156T>A (n.*156T>A)
c.527T>A (p.Ile176Lys)
 dbSNP
13g.48362884T>CCA388159437RB1c.788T>C (p.Ile263Thr)
c.*156T>C (n.*156T>C)
c.527T>C (p.Ile176Thr)
13g.48362884T>GCA388159439RB1c.788T>G (p.Ile263Arg)
c.*156T>G (n.*156T>G)
c.527T>G (p.Ile176Arg)
 ClinVar dbSNP
13g.48362885A>CCA483557886RB1c.789A>C (p.Ile263=)
c.*157A>C (n.*157A>C)
c.528A>C (p.Ile176=)
13g.48362885A>GCA388159440RB1c.789A>G (p.Ile263Met)
c.*157A>G (n.*157A>G)
c.528A>G (p.Ile176Met)
13g.48362885A>TCA483557885RB1c.789A>T (p.Ile263=)
c.*157A>T (n.*157A>T)
c.528A>T (p.Ile176=)
13g.48362886G>ACA388159445RB1c.790G>A (p.Ala264Thr)
c.*158G>A (n.*158G>A)
c.529G>A (p.Ala177Thr)
 dbSNP COSMIC COSMIC
13g.48362886G>CCA388159444RB1c.790G>C (p.Ala264Pro)
c.*158G>C (n.*158G>C)
c.529G>C (p.Ala177Pro)
 dbSNP
13g.48362886G>TCA388159442RB1c.790G>T (p.Ala264Ser)
c.*158G>T (n.*158G>T)
c.529G>T (p.Ala177Ser)
13g.48362887C>ACA388159447RB1c.791C>A (p.Ala264Glu)
c.*159C>A (n.*159C>A)
c.530C>A (p.Ala177Glu)
13g.48362887C>GCA388159451RB1c.791C>G (p.Ala264Gly)
c.*159C>G (n.*159C>G)
c.530C>G (p.Ala177Gly)
 ClinVar
13g.48362887C>TCA388159449RB1c.791C>T (p.Ala264Val)
c.*159C>T (n.*159C>T)
c.530C>T (p.Ala177Val)
 ClinVar COSMIC
13g.48362887_48362888delinsCACA2089981486RB1c.791_792delinsCA (p.Ala264=)
c.*159_*160delinsCA (n.*159_*160delinsCA)
c.530_531delinsCA (p.Ala177=)
13g.48362890_48362894dupCA2695218361RB1c.794_798dup (p.Leu267AsnfsTer3)
c.*162_*166dup (n.*162_*166dup)
c.533_537dup (p.Leu180AsnfsTer3)
13g.48362888A=CA2089981487RB1c.792A= (p.Ala264=)
c.*160A= (n.*160A=)
c.531A= (p.Ala177=)
13g.48362888A>CCA483557888RB1c.792A>C (p.Ala264=)
c.*160A>C (n.*160A>C)
c.531A>C (p.Ala177=)
 ClinVar
13g.48362888A>GCA249274420RB1c.792A>G (p.Ala264=)
c.*160A>G (n.*160A>G)
c.531A>G (p.Ala177=)
 dbSNP gnomAD v4
13g.48362888A>TCA483557887RB1c.792A>T (p.Ala264=)
c.*160A>T (n.*160A>T)
c.531A>T (p.Ala177=)
13g.48362891delCA026467RB1c.795del (p.Lys265AsnfsTer3)
c.*163del (n.*163del)
c.534del (p.Lys178AsnfsTer3)
 ClinVar dbSNP
13g.48362889A>CCA388159452RB1c.793A>C (p.Lys265Gln)
c.*161A>C (n.*161A>C)
c.532A>C (p.Lys178Gln)
13g.48362889A>GCA388159453RB1c.793A>G (p.Lys265Glu)
c.*161A>G (n.*161A>G)
c.532A>G (p.Lys178Glu)
13g.48362889A>TCA388159455RB1c.793A>T (p.Lys265Ter)
c.*161A>T (n.*161A>T)
c.532A>T (p.Lys178Ter)
 dbSNP
13g.48362890A>CCA388159457RB1c.794A>C (p.Lys265Thr)
c.*162A>C (n.*162A>C)
c.533A>C (p.Lys178Thr)
 dbSNP
13g.48362890A>GCA388159458RB1c.794A>G (p.Lys265Arg)
c.*162A>G (n.*162A>G)
c.533A>G (p.Lys178Arg)
13g.48362890A>TCA388159460RB1c.794A>T (p.Lys265Ile)
c.*162A>T (n.*162A>T)
c.533A>T (p.Lys178Ile)
 dbSNP
13g.48362893_48362895dupCA2580614719RB1c.797_799dup (p.Gln266_Leu267insGln)
c.*165_*167dup (n.*165_*167dup)
c.536_538dup (p.Gln179_Leu180insGln)
 ClinVar dbSNP
13g.48362891A=CA2089981488RB1c.795A= (p.Lys265=)
c.*163A= (n.*163A=)
c.534A= (p.Lys178=)
13g.48362891A>CCA388159462RB1c.795A>C (p.Lys265Asn)
c.*163A>C (n.*163A>C)
c.534A>C (p.Lys178Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48362891A>GCA483557889RB1c.795A>G (p.Lys265=)
c.*163A>G (n.*163A>G)
c.534A>G (p.Lys178=)
 dbSNP gnomAD v4
13g.48362891A>TCA388159463RB1c.795A>T (p.Lys265Asn)
c.*163A>T (n.*163A>T)
c.534A>T (p.Lys178Asn)
 dbSNP
13g.48362892C>ACA388159465RB1c.796C>A (p.Gln266Lys)
c.*164C>A (n.*164C>A)
c.535C>A (p.Gln179Lys)
 dbSNP
13g.48362892C>GCA388159466RB1c.796C>G (p.Gln266Glu)
c.*164C>G (n.*164C>G)
c.535C>G (p.Gln179Glu)
 dbSNP
13g.48362892C>TCA388159468RB1c.796C>T (p.Gln266Ter)
c.*164C>T (n.*164C>T)
c.535C>T (p.Gln179Ter)
 ClinVar COSMIC COSMIC
13g.48362893A>CCA388159473RB1c.797A>C (p.Gln266Pro)
c.*165A>C (n.*165A>C)
c.536A>C (p.Gln179Pro)
13g.48362893A>GCA388159469RB1c.797A>G (p.Gln266Arg)
c.*165A>G (n.*165A>G)
c.536A>G (p.Gln179Arg)
13g.48362893A>TCA388159471RB1c.797A>T (p.Gln266Leu)
c.*165A>T (n.*165A>T)
c.536A>T (p.Gln179Leu)
 dbSNP
13g.48362894delCA645578631RB1c.798del (p.Gln266HisfsTer2)
c.*166del (n.*166del)
c.537del (p.Gln179HisfsTer2)
 COSMIC COSMIC
13g.48362894A=CA2089981489RB1c.798A= (p.Gln266=)
c.*166A= (n.*166A=)
c.537A= (p.Gln179=)
13g.48362894A>CCA388159474RB1c.798A>C (p.Gln266His)
c.*166A>C (n.*166A>C)
c.537A>C (p.Gln179His)
13g.48362894A>GCA039542RB1c.798A>G (p.Gln266=)
c.*166A>G (n.*166A>G)
c.537A>G (p.Gln179=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.48362894A>TCA388159477RB1c.798A>T (p.Gln266His)
c.*166A>T (n.*166A>T)
c.537A>T (p.Gln179His)
 dbSNP
13g.48362894_48362895dupCA2695218368RB1c.798_799dup (p.Leu267HisfsTer2)
c.*166_*167dup (n.*166_*167dup)
c.537_538dup (p.Leu180HisfsTer2)
13g.48362895C>ACA388159478RB1c.799C>A (p.Leu267Ile)
c.*167C>A (n.*167C>A)
c.538C>A (p.Leu180Ile)
 dbSNP
13g.48362895C=CA2089981491RB1c.799C= (p.Leu267=)
c.*167C= (n.*167C=)
c.538C= (p.Leu180=)
13g.48362895C>GCA388159480RB1c.799C>G (p.Leu267Val)
c.*167C>G (n.*167C>G)
c.538C>G (p.Leu180Val)
 ClinVar dbSNP
13g.48362895C>TCA483557893RB1c.799C>T (p.Leu267=)
c.*167C>T (n.*167C>T)
c.538C>T (p.Leu180=)
13g.48362895_48362896delinsCTCA2089981490RB1c.799_800delinsCT (p.Leu267=)
c.*167_*168delinsCT (n.*167_*168delinsCT)
c.538_539delinsCT (p.Leu180=)
13g.48362896delCA891844536RB1c.800del (p.Leu267GlnfsTer19)
c.*168del (n.*168del)
c.539del (p.Leu180GlnfsTer19)
 ClinVar dbSNP
13g.48362896T>ACA388159481RB1c.800T>A (p.Leu267Gln)
c.*168T>A (n.*168T>A)
c.539T>A (p.Leu180Gln)
 dbSNP
13g.48362896T>CCA388159483RB1c.800T>C (p.Leu267Pro)
c.*168T>C (n.*168T>C)
c.539T>C (p.Leu180Pro)
 ClinVar dbSNP gnomAD v4
13g.48362896T>GCA388159485RB1c.800T>G (p.Leu267Arg)
c.*168T>G (n.*168T>G)
c.539T>G (p.Leu180Arg)
13g.48362897A>CCA483557895RB1c.801A>C (p.Leu267=)
c.*169A>C (n.*169A>C)
c.540A>C (p.Leu180=)
13g.48362897A>GCA483557896RB1c.801A>G (p.Leu267=)
c.*169A>G (n.*169A>G)
c.540A>G (p.Leu180=)
 dbSNP gnomAD v4
13g.48362897A>TCA483557897RB1c.801A>T (p.Leu267=)
c.*169A>T (n.*169A>T)
c.540A>T (p.Leu180=)
 dbSNP
13g.48362898G>ACA388159487RB1c.802G>A (p.Glu268Lys)
c.*170G>A (n.*170G>A)
c.541G>A (p.Glu181Lys)
13g.48362898G>CCA388159488RB1c.802G>C (p.Glu268Gln)
c.*170G>C (n.*170G>C)
c.541G>C (p.Glu181Gln)
13g.48362898G>TCA388159489RB1c.802G>T (p.Glu268Ter)
c.*170G>T (n.*170G>T)
c.541G>T (p.Glu181Ter)
13g.48362899A>CCA388159494RB1c.803A>C (p.Glu268Ala)
c.*171A>C (n.*171A>C)
c.542A>C (p.Glu181Ala)
13g.48362899A>GCA388159493RB1c.803A>G (p.Glu268Gly)
c.*171A>G (n.*171A>G)
c.542A>G (p.Glu181Gly)
13g.48362899A>TCA388159492RB1c.803A>T (p.Glu268Val)
c.*171A>T (n.*171A>T)
c.542A>T (p.Glu181Val)
 dbSNP
13g.48362901_48362902delCA645578632RB1c.805_806del (p.Asn269Ter)
c.*173_*174del (n.*173_*174del)
c.544_545del (p.Asn182Ter)
 COSMIC
13g.48362900A>CCA388159497RB1c.804A>C (p.Glu268Asp)
c.*172A>C (n.*172A>C)
c.543A>C (p.Glu181Asp)
13g.48362900A>GCA483557902RB1c.804A>G (p.Glu268=)
c.*172A>G (n.*172A>G)
c.543A>G (p.Glu181=)
 gnomAD v4
13g.48362900A>TCA388159499RB1c.804A>T (p.Glu268Asp)
c.*172A>T (n.*172A>T)
c.543A>T (p.Glu181Asp)
13g.48362901A>CCA388159500RB1c.805A>C (p.Asn269His)
c.*173A>C (n.*173A>C)
c.544A>C (p.Asn182His)
13g.48362901A>GCA388159502RB1c.805A>G (p.Asn269Asp)
c.*173A>G (n.*173A>G)
c.544A>G (p.Asn182Asp)
13g.48362901A>TCA388159504RB1c.805A>T (p.Asn269Tyr)
c.*173A>T (n.*173A>T)
c.544A>T (p.Asn182Tyr)
13g.48362903_48362910dupCA2695218370RB1c.807_814dup (p.Arg272MetfsTer17)
c.546_553dup (p.Arg185MetfsTer17)
13g.48362902A=CA2089981492RB1c.806A= (p.Asn269=)
c.*174A= (n.*174A=)
c.545A= (p.Asn182=)
13g.48362902A>CCA388159506RB1c.806A>C (p.Asn269Thr)
c.*174A>C (n.*174A>C)
c.545A>C (p.Asn182Thr)
 dbSNP
13g.48362902A>GCA388159507RB1c.806A>G (p.Asn269Ser)
c.*174A>G (n.*174A>G)
c.545A>G (p.Asn182Ser)
 ClinVar dbSNP
13g.48362902A>TCA388159508RB1c.806A>T (p.Asn269Ile)
c.*174A>T (n.*174A>T)
c.545A>T (p.Asn182Ile)
13g.48362903T>ACA388159510RB1c.807T>A (p.Asn269Lys)
c.*175T>A (n.*175T>A)
c.546T>A (p.Asn182Lys)
 dbSNP
13g.48362903T>CCA483557908RB1c.807T>C (p.Asn269=)
c.*175T>C (n.*175T>C)
c.546T>C (p.Asn182=)
 dbSNP
13g.48362903T>GCA249274436RB1c.807T>G (p.Asn269Lys)
c.*175T>G (n.*175T>G)
c.546T>G (p.Asn182Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48362903T=CA2089981493RB1c.807T= (p.Asn269=)
c.*175T= (n.*175T=)
c.546T= (p.Asn182=)
13g.48362904G>ACA388159513RB1c.808G>A (p.Asp270Asn)
c.*176G>A (n.*176G>A)
c.547G>A (p.Asp183Asn)
 dbSNP
13g.48362904G>CCA388159515RB1c.808G>C (p.Asp270His)
c.*176G>C (n.*176G>C)
c.547G>C (p.Asp183His)
 dbSNP
13g.48362904G>TCA388159516RB1c.808G>T (p.Asp270Tyr)
c.*176G>T (n.*176G>T)
c.547G>T (p.Asp183Tyr)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
13g.48362905A>CCA388159522RB1c.809A>C (p.Asp270Ala)
c.*177A>C (n.*177A>C)
c.548A>C (p.Asp183Ala)
13g.48362905A>GCA388159519RB1c.809A>G (p.Asp270Gly)
c.*177A>G (n.*177A>G)
c.548A>G (p.Asp183Gly)
 gnomAD v4
13g.48362905A>TCA388159521RB1c.809A>T (p.Asp270Val)
c.*177A>T (n.*177A>T)
c.548A>T (p.Asp183Val)
 ClinVar dbSNP
13g.48362906_48362907delCA2695218372RB1c.810_811del (p.Thr271LysfsTer4)
c.*178_*179del (n.*178_*179del)
c.549_550del (p.Thr184LysfsTer4)
13g.48362906T>ACA388159524RB1c.810T>A (p.Asp270Glu)
c.*178T>A (n.*178T>A)
c.549T>A (p.Asp183Glu)
 dbSNP
13g.48362906T>CCA483557910RB1c.810T>C (p.Asp270=)
c.*178T>C (n.*178T>C)
c.549T>C (p.Asp183=)
 ClinVar dbSNP
13g.48362906T>GCA388159526RB1c.810T>G (p.Asp270Glu)
c.*178T>G (n.*178T>G)
c.549T>G (p.Asp183Glu)
 dbSNP gnomAD v4
13g.48362906T=CA2089981494RB1c.810T= (p.Asp270=)
c.*178T= (n.*178T=)
c.549T= (p.Asp183=)
13g.48362907A=CA2089981495RB1c.811A= (p.Thr271=)
c.*179A= (n.*179A=)
c.550A= (p.Thr184=)
13g.48362907A>CCA388159528RB1c.811A>C (p.Thr271Pro)
c.*179A>C (n.*179A>C)
c.550A>C (p.Thr184Pro)
13g.48362907A>GCA388159529RB1c.811A>G (p.Thr271Ala)
c.*179A>G (n.*179A>G)
c.550A>G (p.Thr184Ala)
 ClinVar dbSNP
13g.48362907A>TCA388159531RB1c.811A>T (p.Thr271Ser)
c.*179A>T (n.*179A>T)
c.550A>T (p.Thr184Ser)
 dbSNP COSMIC
13g.48362908C>ACA388159534RB1c.812C>A (p.Thr271Lys)
c.*180C>A (n.*180C>A)
c.551C>A (p.Thr184Lys)
 gnomAD v4
13g.48362908C=CA2089981496RB1c.812C= (p.Thr271=)
c.*180C= (n.*180C=)
c.551C= (p.Thr184=)
13g.48362908C>GCA388159535RB1c.812C>G (p.Thr271Arg)
c.*180C>G (n.*180C>G)
c.551C>G (p.Thr184Arg)
13g.48362908C>TCA388159537RB1c.812C>T (p.Thr271Ile)
c.*180C>T (n.*180C>T)
c.551C>T (p.Thr184Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48362909A=CA2089981497RB1c.813A= (p.Thr271=)
c.552A= (p.Thr184=)
13g.48362909A>CCA483557915RB1c.813A>C (p.Thr271=)
c.552A>C (p.Thr184=)
13g.48362909A>GCA483557914RB1c.813A>G (p.Thr271=)
c.552A>G (p.Thr184=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48362909A>TCA483557913RB1c.813A>T (p.Thr271=)
c.552A>T (p.Thr184=)
13g.48362910delCA2580087727RB1c.814del (p.Arg272GlufsTer14)
c.553del (p.Arg185GlufsTer14)
 ClinVar
13g.48362910A=CA2089981498RB1c.814A= (p.Arg272=)
c.553A= (p.Arg185=)
13g.48362910A>CCA483557916RB1c.814A>C (p.Arg272=)
c.553A>C (p.Arg185=)
13g.48362910A>GCA388159539RB1c.814A>G (p.Arg272Gly)
c.553A>G (p.Arg185Gly)
 ClinVar dbSNP
13g.48362910A>TCA388159540RB1c.814A>T (p.Arg272Ter)
c.553A>T (p.Arg185Ter)
 dbSNP
13g.48362911G>ACA388159543RB1c.815G>A (p.Arg272Lys)
c.554G>A (p.Arg185Lys)
 ClinVar dbSNP gnomAD v4
13g.48362911G>CCA388159545RB1c.815G>C (p.Arg272Thr)
c.554G>C (p.Arg185Thr)
 dbSNP
13g.48362911G>TCA388159546RB1c.815G>T (p.Arg272Ile)
c.554G>T (p.Arg185Ile)
 gnomAD v4 COSMIC COSMIC
13g.48362912A>CCA388159551RB1c.816A>C (p.Arg272Ser)
c.555A>C (p.Arg185Ser)
13g.48362912A>GCA483557921RB1c.816A>G (p.Arg272=)
c.555A>G (p.Arg185=)
13g.48362912A>TCA388159549RB1c.816A>T (p.Arg272Ser)
c.555A>T (p.Arg185Ser)
13g.48362913A>CCA388159552RB1c.817A>C (p.Ile273Leu)
c.556A>C (p.Ile186Leu)
13g.48362913A>GCA388159555RB1c.817A>G (p.Ile273Val)
c.556A>G (p.Ile186Val)
 ClinVar
13g.48362913A>TCA388159553RB1c.817A>T (p.Ile273Phe)
c.556A>T (p.Ile186Phe)
13g.48362914T>ACA388159556RB1c.818T>A (p.Ile273Asn)
c.557T>A (p.Ile186Asn)
 dbSNP
13g.48362914T>CCA388159559RB1c.818T>C (p.Ile273Thr)
c.557T>C (p.Ile186Thr)
13g.48362914T>GCA388159558RB1c.818T>G (p.Ile273Ser)
c.557T>G (p.Ile186Ser)
 dbSNP gnomAD v4
13g.48362915T>ACA483557925RB1c.819T>A (p.Ile273=)
c.558T>A (p.Ile186=)
 dbSNP
13g.48362915T>CCA483557926RB1c.819T>C (p.Ile273=)
c.558T>C (p.Ile186=)
 dbSNP gnomAD v4
13g.48362915T>GCA388159561RB1c.819T>G (p.Ile273Met)
c.558T>G (p.Ile186Met)
13g.48362915T=CA2089981499RB1c.819T= (p.Ile273=)
c.558T= (p.Ile186=)
13g.48362916A=CA2089981500RB1c.820A= (p.Ile274=)
c.559A= (p.Ile187=)
13g.48362916A>CCA388159564RB1c.820A>C (p.Ile274Leu)
c.559A>C (p.Ile187Leu)
13g.48362916A>GCA249274439RB1c.820A>G (p.Ile274Val)
c.559A>G (p.Ile187Val)
 ClinVar dbSNP gnomAD v4
13g.48362916A>TCA388159565RB1c.820A>T (p.Ile274Phe)
c.559A>T (p.Ile187Phe)
 dbSNP gnomAD v4
13g.48362917T>ACA388159567RB1c.821T>A (p.Ile274Asn)
c.560T>A (p.Ile187Asn)
 dbSNP
13g.48362917T>CCA388159568RB1c.821T>C (p.Ile274Thr)
c.560T>C (p.Ile187Thr)
13g.48362917T>GCA388159570RB1c.821T>G (p.Ile274Ser)
c.560T>G (p.Ile187Ser)
13g.48362918delCA2695218373RB1c.822del (p.Ile274MetfsTer12)
c.561del (p.Ile187MetfsTer12)
13g.48362918T>ACA483557930RB1c.822T>A (p.Ile274=)
c.561T>A (p.Ile187=)
 dbSNP
13g.48362918T>CCA483557931RB1c.822T>C (p.Ile274=)
c.561T>C (p.Ile187=)
 ClinVar COSMIC COSMIC
13g.48362918T>GCA388159572RB1c.822T>G (p.Ile274Met)
c.561T>G (p.Ile187Met)
13g.48362919G>ACA388159574RB1c.823G>A (p.Glu275Lys)
c.562G>A (p.Glu188Lys)
 COSMIC COSMIC
13g.48362919G>CCA388159575RB1c.823G>C (p.Glu275Gln)
c.562G>C (p.Glu188Gln)
13g.48362919G>TCA388159577RB1c.823G>T (p.Glu275Ter)
c.562G>T (p.Glu188Ter)
 COSMIC COSMIC
13g.48362920A>CCA388159579RB1c.824A>C (p.Glu275Ala)
c.563A>C (p.Glu188Ala)
13g.48362920A>GCA388159580RB1c.824A>G (p.Glu275Gly)
c.563A>G (p.Glu188Gly)
13g.48362920A>TCA388159582RB1c.824A>T (p.Glu275Val)
c.563A>T (p.Glu188Val)
 dbSNP
13g.48362921A>CCA388159583RB1c.825A>C (p.Glu275Asp)
c.564A>C (p.Glu188Asp)
 gnomAD v4
13g.48362921A>GCA483557935RB1c.825A>G (p.Glu275=)
c.564A>G (p.Glu188=)
 dbSNP
13g.48362921A>TCA388159585RB1c.825A>T (p.Glu275Asp)
c.564A>T (p.Glu188Asp)
 dbSNP
13g.48362922G>ACA388159590RB1c.826G>A (p.Val276Ile)
c.565G>A (p.Val189Ile)
13g.48362922G>CCA388159589RB1c.826G>C (p.Val276Leu)
c.565G>C (p.Val189Leu)
 dbSNP
13g.48362922G>TCA388159588RB1c.826G>T (p.Val276Phe)
c.565G>T (p.Val189Phe)
 ClinVar dbSNP
13g.48362923T>ACA388159592RB1c.827T>A (p.Val276Asp)
c.566T>A (p.Val189Asp)
 dbSNP
13g.48362923T>CCA388159594RB1c.827T>C (p.Val276Ala)
c.566T>C (p.Val189Ala)
 gnomAD v4
13g.48362923T>GCA388159596RB1c.827T>G (p.Val276Gly)
c.566T>G (p.Val189Gly)
13g.48362924delCA2695218375RB1c.828del (p.Leu277SerfsTer9)
c.567del (p.Leu190SerfsTer9)
13g.48362924_48362943delCA2695218374RB1c.828_847del (p.Leu277Ter)
c.567_586del (p.Leu190Ter)
13g.48362924T>ACA483557938RB1c.828T>A (p.Val276=)
c.567T>A (p.Val189=)
 dbSNP
13g.48362924T>CCA483557939RB1c.828T>C (p.Val276=)
c.567T>C (p.Val189=)
13g.48362924T>GCA483557940RB1c.828T>G (p.Val276=)
c.567T>G (p.Val189=)
13g.48362927_48362928delCA2695218376RB1c.831_832del (p.Cys278Ter)
c.570_571del (p.Cys191Ter)
13g.48362925C>ACA388159597RB1c.829C>A (p.Leu277Ile)
c.568C>A (p.Leu190Ile)
 gnomAD v4
13g.48362925C>GCA388159598RB1c.829C>G (p.Leu277Val)
c.568C>G (p.Leu190Val)
 dbSNP
13g.48362925C>TCA388159599RB1c.829C>T (p.Leu277Phe)
c.568C>T (p.Leu190Phe)
 dbSNP
13g.48362926T>ACA388159601RB1c.830T>A (p.Leu277His)
c.569T>A (p.Leu190His)
 dbSNP
13g.48362926T>CCA388159603RB1c.830T>C (p.Leu277Pro)
c.569T>C (p.Leu190Pro)
13g.48362926T>GCA388159604RB1c.830T>G (p.Leu277Arg)
c.569T>G (p.Leu190Arg)
13g.48362927C>ACA483557947RB1c.831C>A (p.Leu277=)
c.570C>A (p.Leu190=)
 dbSNP
13g.48362927C=CA2089981501RB1c.831C= (p.Leu277=)
c.570C= (p.Leu190=)
13g.48362927C>GCA483557946RB1c.831C>G (p.Leu277=)
c.570C>G (p.Leu190=)
 dbSNP
13g.48362927C>TCA483557945RB1c.831C>T (p.Leu277=)
c.570C>T (p.Leu190=)
 dbSNP
13g.48362928T>ACA388159606RB1c.832T>A (p.Cys278Ser)
c.571T>A (p.Cys191Ser)
 dbSNP
13g.48362928T>CCA388159607RB1c.832T>C (p.Cys278Arg)
c.571T>C (p.Cys191Arg)
 dbSNP
13g.48362928T>GCA388159609RB1c.832T>G (p.Cys278Gly)
c.571T>G (p.Cys191Gly)
13g.48362928T=CA2581137862RB1c.832T= (p.Cys278=)
c.571T= (p.Cys191=)
13g.48362928dupCA249274443RB1c.832dup (p.Cys278LeufsTer2)
c.571dup (p.Cys191LeufsTer2)
 dbSNP
13g.48362929G>ACA388159613RB1c.833G>A (p.Cys278Tyr)
c.572G>A (p.Cys191Tyr)
 dbSNP
13g.48362929G>CCA388159612RB1c.833G>C (p.Cys278Ser)
c.572G>C (p.Cys191Ser)
 dbSNP
13g.48362929G>TCA388159611RB1c.833G>T (p.Cys278Phe)
c.572G>T (p.Cys191Phe)
 COSMIC COSMIC
13g.48362929_48362932delCA645578633RB1c.833_836del (p.Cys278Ter)
c.572_575del (p.Cys191Ter)
 COSMIC COSMIC
13g.48362930T>ACA388159616RB1c.834T>A (p.Cys278Ter)
c.573T>A (p.Cys191Ter)
13g.48362930T>CCA483557952RB1c.834T>C (p.Cys278=)
c.573T>C (p.Cys191=)
13g.48362930T>GCA388159617RB1c.834T>G (p.Cys278Trp)
c.573T>G (p.Cys191Trp)
13g.48362931A=CA2089981502RB1c.835A= (p.Lys279=)
c.574A= (p.Lys192=)
13g.48362931A>CCA388159619RB1c.835A>C (p.Lys279Gln)
c.574A>C (p.Lys192Gln)
13g.48362931A>GCA388159620RB1c.835A>G (p.Lys279Glu)
c.574A>G (p.Lys192Glu)
 dbSNP gnomAD v4
13g.48362931A>TCA388159622RB1c.835A>T (p.Lys279Ter)
c.574A>T (p.Lys192Ter)
 dbSNP
13g.48362932A>CCA388159624RB1c.836A>C (p.Lys279Thr)
c.575A>C (p.Lys192Thr)
13g.48362932A>GCA388159625RB1c.836A>G (p.Lys279Arg)
c.575A>G (p.Lys192Arg)
13g.48362932A>TCA388159626RB1c.836A>T (p.Lys279Ile)
c.575A>T (p.Lys192Ile)
13g.48362933A=CA2089981503RB1c.837A= (p.Lys279=)
c.576A= (p.Lys192=)
13g.48362933A>CCA388159629RB1c.837A>C (p.Lys279Asn)
c.576A>C (p.Lys192Asn)
13g.48362933A>GCA483557953RB1c.837A>G (p.Lys279=)
c.576A>G (p.Lys192=)
 dbSNP
13g.48362933A>TCA388159630RB1c.837A>T (p.Lys279Asn)
c.576A>T (p.Lys192Asn)
13g.48362934_48362938delCA2695218377RB1c.838_842del (p.Glu280Ter)
c.577_581del (p.Glu193Ter)
13g.48362933_48362934insAGTGCA2089981504RB1c.837_838insAGTG (p.Glu280SerfsTer4)
c.576_577insAGTG (p.Glu193SerfsTer4)
 dbSNP
13g.48362934G>ACA388159632RB1c.838G>A (p.Glu280Lys)
c.577G>A (p.Glu193Lys)
 ClinVar dbSNP
13g.48362934G>CCA388159633RB1c.838G>C (p.Glu280Gln)
c.577G>C (p.Glu193Gln)
 dbSNP
13g.48362934G>TCA388159634RB1c.838G>T (p.Glu280Ter)
c.577G>T (p.Glu193Ter)
 COSMIC COSMIC
13g.48362935A=CA2089981505RB1c.839A= (p.Glu280=)
c.578A= (p.Glu193=)
13g.48362935A>CCA388159639RB1c.839A>C (p.Glu280Ala)
c.578A>C (p.Glu193Ala)
13g.48362935A>GCA388159635RB1c.839A>G (p.Glu280Gly)
c.578A>G (p.Glu193Gly)
13g.48362935A>TCA388159637RB1c.839A>T (p.Glu280Val)
c.578A>T (p.Glu193Val)
 dbSNP
13g.48362936dupCA2499222435RB1c.840dup (p.His281ThrfsTer2)
c.579dup (p.His194ThrfsTer2)
 ClinVar dbSNP
13g.48362936A=CA2089981506RB1c.840A= (p.Glu280=)
c.579A= (p.Glu193=)
13g.48362936A>CCA388159640RB1c.840A>C (p.Glu280Asp)
c.579A>C (p.Glu193Asp)
13g.48362936A>GCA039577RB1c.840A>G (p.Glu280=)
c.579A>G (p.Glu193=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.48362936A>TCA388159642RB1c.840A>T (p.Glu280Asp)
c.579A>T (p.Glu193Asp)
 ClinVar dbSNP
13g.48362937C>ACA388159643RB1c.841C>A (p.His281Asn)
c.580C>A (p.His194Asn)
 dbSNP COSMIC COSMIC
13g.48362937C=CA2089981507RB1c.841C= (p.His281=)
c.580C= (p.His194=)
13g.48362937C>GCA388159645RB1c.841C>G (p.His281Asp)
c.580C>G (p.His194Asp)
 dbSNP
13g.48362937C>TCA249274444RB1c.841C>T (p.His281Tyr)
c.580C>T (p.His194Tyr)
 ClinVar dbSNP
13g.48362938A>CCA388159647RB1c.842A>C (p.His281Pro)
c.581A>C (p.His194Pro)
13g.48362938A>GCA388159648RB1c.842A>G (p.His281Arg)
c.581A>G (p.His194Arg)
 ClinVar
13g.48362938A>TCA388159649RB1c.842A>T (p.His281Leu)
c.581A>T (p.His194Leu)
 dbSNP
13g.48362938_48362939insATCA645578636RB1c.842_843insAT (p.His281GlnfsTer6)
c.581_582insAT (p.His194GlnfsTer6)
 COSMIC COSMIC
13g.48362939T>ACA388159650RB1c.843T>A (p.His281Gln)
c.582T>A (p.His194Gln)
 dbSNP
13g.48362939T>CCA483557961RB1c.843T>C (p.His281=)
c.582T>C (p.His194=)
 ClinVar gnomAD v4
13g.48362939T>GCA388159652RB1c.843T>G (p.His281Gln)
c.582T>G (p.His194Gln)
13g.48362940G>ACA388159657RB1c.844G>A (p.Glu282Lys)
c.583G>A (p.Glu195Lys)
 dbSNP
13g.48362940G>CCA388159655RB1c.844G>C (p.Glu282Gln)
c.583G>C (p.Glu195Gln)
 dbSNP
13g.48362940G>TCA388159654RB1c.844G>T (p.Glu282Ter)
c.583G>T (p.Glu195Ter)
 dbSNP
13g.48362940_48362941delinsGACA2089981508RB1c.844_845delinsGA (p.Glu282=)
c.583_584delinsGA (p.Glu195=)
13g.48362941A>CCA388159658RB1c.845A>C (p.Glu282Ala)
c.584A>C (p.Glu195Ala)
13g.48362941A>GCA388159661RB1c.845A>G (p.Glu282Gly)
c.584A>G (p.Glu195Gly)
13g.48362941A>TCA388159659RB1c.845A>T (p.Glu282Val)
c.584A>T (p.Glu195Val)
13g.48362942delCA645369538RB1c.846del (p.Glu282AspfsTer4)
c.585del (p.Glu195AspfsTer4)
 ClinVar dbSNP
13g.48362942A>CCA388159663RB1c.846A>C (p.Glu282Asp)
c.585A>C (p.Glu195Asp)
13g.48362942A>GCA483557965RB1c.846A>G (p.Glu282=)
c.585A>G (p.Glu195=)
13g.48362942A>TCA388159665RB1c.846A>T (p.Glu282Asp)
c.585A>T (p.Glu195Asp)
 dbSNP
13g.48362945_48362955delCA2622980003RB1c.849_859del (p.Cys283Ter)
c.588_598del (p.Cys196Ter)
 gnomAD v4
13g.48362943T>ACA388159666RB1c.847T>A (p.Cys283Ser)
c.586T>A (p.Cys196Ser)
 dbSNP
13g.48362943T>CCA388159668RB1c.847T>C (p.Cys283Arg)
c.586T>C (p.Cys196Arg)
 ClinVar
13g.48362943T>GCA388159670RB1c.847T>G (p.Cys283Gly)
c.586T>G (p.Cys196Gly)
 gnomAD v4
13g.48362943_48362951delinsTGTAATATACA2089981509RB1c.847_855delinsTGTAATATA (p.Cys283=)
c.586_594delinsTGTAATATA (p.Cys196=)
13g.48362944G>ACA388159672RB1c.848G>A (p.Cys283Tyr)
c.587G>A (p.Cys196Tyr)
 ClinVar dbSNP
13g.48362944G>CCA388159673RB1c.848G>C (p.Cys283Ser)
c.587G>C (p.Cys196Ser)
13g.48362944G=CA2089981510RB1c.848G= (p.Cys283=)
c.587G= (p.Cys196=)
13g.48362944G>TCA388159674RB1c.848G>T (p.Cys283Phe)
c.587G>T (p.Cys196Phe)
13g.48362945_48362952delCA915948647RB1c.849_856del (p.Cys283Ter)
c.588_595del (p.Cys196Ter)
 ClinVar dbSNP
13g.48362945T>ACA388159676RB1c.849T>A (p.Cys283Ter)
c.588T>A (p.Cys196Ter)
13g.48362945T>CCA483557968RB1c.849T>C (p.Cys283=)
c.588T>C (p.Cys196=)
 ClinVar dbSNP
13g.48362945T>GCA388159677RB1c.849T>G (p.Cys283Trp)
c.588T>G (p.Cys196Trp)
13g.48362946A=CA2089981511RB1c.850A= (p.Asn284=)
c.589A= (p.Asn197=)
13g.48362946A>CCA388159681RB1c.850A>C (p.Asn284His)
c.589A>C (p.Asn197His)
 dbSNP gnomAD v3 gnomAD v4
13g.48362946A>GCA039582RB1c.850A>G (p.Asn284Asp)
c.589A>G (p.Asn197Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48362946A>TCA388159679RB1c.850A>T (p.Asn284Tyr)
c.589A>T (p.Asn197Tyr)
13g.48362947A>CCA388159683RB1c.851A>C (p.Asn284Thr)
c.590A>C (p.Asn197Thr)
13g.48362947A>GCA388159684RB1c.851A>G (p.Asn284Ser)
c.590A>G (p.Asn197Ser)
13g.48362947A>TCA388159685RB1c.851A>T (p.Asn284Ile)
c.590A>T (p.Asn197Ile)
 dbSNP
13g.48362950_48362951dupCA2695218382RB1c.854_855dup (p.Asp286Ter)
c.593_594dup (p.Asp199Ter)
13g.48362948T>ACA388159687RB1c.852T>A (p.Asn284Lys)
c.591T>A (p.Asn197Lys)
 dbSNP
13g.48362948T>CCA483557969RB1c.852T>C (p.Asn284=)
c.591T>C (p.Asn197=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48362948T>GCA388159688RB1c.852T>G (p.Asn284Lys)
c.591T>G (p.Asn197Lys)
13g.48362948T=CA2089981512RB1c.852T= (p.Asn284=)
c.591T= (p.Asn197=)
13g.48362949delCA2695218383RB1c.853del (p.Ile285Ter)
c.592del (p.Ile198Ter)
13g.48362949A=CA2089981513RB1c.853A= (p.Ile285=)
c.592A= (p.Ile198=)
13g.48362949A>CCA388159690RB1c.853A>C (p.Ile285Leu)
c.592A>C (p.Ile198Leu)
13g.48362949A>GCA388159691RB1c.853A>G (p.Ile285Val)
c.592A>G (p.Ile198Val)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
13g.48362949A>TCA388159693RB1c.853A>T (p.Ile285Leu)
c.592A>T (p.Ile198Leu)
 dbSNP
13g.48362950T>ACA388159695RB1c.854T>A (p.Ile285Lys)
c.593T>A (p.Ile198Lys)
13g.48362950T>CCA388159697RB1c.854T>C (p.Ile285Thr)
c.593T>C (p.Ile198Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48362950T>GCA388159698RB1c.854T>G (p.Ile285Arg)
c.593T>G (p.Ile198Arg)
13g.48362950T=CA2089981514RB1c.854T= (p.Ile285=)
c.593T= (p.Ile198=)
13g.48362951A=CA2089981515RB1c.855A= (p.Ile285=)
c.594A= (p.Ile198=)
13g.48362951A>CCA483557970RB1c.855A>C (p.Ile285=)
c.594A>C (p.Ile198=)
13g.48362951A>GCA388159700RB1c.855A>G (p.Ile285Met)
c.594A>G (p.Ile198Met)
 ClinVar dbSNP gnomAD v4
13g.48362951A>TCA483557971RB1c.855A>T (p.Ile285=)
c.594A>T (p.Ile198=)
 dbSNP
13g.48362952G>ACA388159702RB1c.856G>A (p.Asp286Asn)
c.595G>A (p.Asp199Asn)
 dbSNP
13g.48362952G>CCA388159704RB1c.856G>C (p.Asp286His)
c.595G>C (p.Asp199His)
 dbSNP
13g.48362952G>TCA388159701RB1c.856G>T (p.Asp286Tyr)
c.595G>T (p.Asp199Tyr)
13g.48362952_48362953insTACA2499222436RB1c.856_857insTA (p.Asp286ValfsTer4)
c.595_596insTA (p.Asp199ValfsTer4)
 ClinVar dbSNP
13g.48362953A=CA2089981516RB1c.857A= (p.Asp286=)
c.596A= (p.Asp199=)
13g.48362953A>CCA388159706RB1c.857A>C (p.Asp286Ala)
c.596A>C (p.Asp199Ala)
13g.48362953A>GCA388159708RB1c.857A>G (p.Asp286Gly)
c.596A>G (p.Asp199Gly)
 ClinVar dbSNP
13g.48362953A>TCA388159709RB1c.857A>T (p.Asp286Val)
c.596A>T (p.Asp199Val)
 dbSNP
13g.48362954T>ACA388159710RB1c.858T>A (p.Asp286Glu)
c.597T>A (p.Asp199Glu)
 dbSNP gnomAD v4
13g.48362954T>CCA483557972RB1c.858T>C (p.Asp286=)
c.597T>C (p.Asp199=)
13g.48362954T>GCA388159711RB1c.858T>G (p.Asp286Glu)
c.597T>G (p.Asp199Glu)
 gnomAD v4
13g.48362955G>ACA388159713RB1c.859G>A (p.Glu287Lys)
c.598G>A (p.Glu200Lys)
 dbSNP
13g.48362955G>CCA388159715RB1c.859G>C (p.Glu287Gln)
c.598G>C (p.Glu200Gln)
 dbSNP
13g.48362955G=CA2089981517RB1c.859G= (p.Glu287=)
c.598G= (p.Glu200=)
13g.48362955G>TCA388159717RB1c.859G>T (p.Glu287Ter)
c.598G>T (p.Glu200Ter)
 ClinVar dbSNP
13g.48362956delCA2695218387RB1c.860del (p.Glu287GlyfsTer2)
c.599del (p.Glu200GlyfsTer2)
13g.48362956A=CA2089981518RB1c.860A= (p.Glu287=)
c.599A= (p.Glu200=)
13g.48362956A>CCA388159718RB1c.860A>C (p.Glu287Ala)
c.599A>C (p.Glu200Ala)
13g.48362956A>GCA388159719RB1c.860A>G (p.Glu287Gly)
c.599A>G (p.Glu200Gly)
 ClinVar dbSNP
13g.48362956A>TCA388159720RB1c.860A>T (p.Glu287Val)
c.599A>T (p.Glu200Val)
 dbSNP
13g.48362957G>ACA483557973RB1c.861G>A (p.Glu287=)
c.600G>A (p.Glu200=)
 ClinVar dbSNP
13g.48362957G>CCA388159722RB1c.861G>C (p.Glu287Asp)
c.600G>C (p.Glu200Asp)
 ClinVar dbSNP
13g.48362957G=CA2089981519RB1c.861G= (p.Glu287=)
c.600G= (p.Glu200=)
13g.48362957G>TCA388159724RB1c.861G>T (p.Glu287Asp)
c.600G>T (p.Glu200Asp)
 dbSNP
13g.48362958G>ACA388159729RB1c.861+1G>A (n.861+1G>A)
c.600+1G>A (n.600+1G>A)
 ClinVar dbSNP COSMIC COSMIC
13g.48362958G>CCA388159727RB1c.861+1G>C (n.861+1G>C)
c.600+1G>C (n.600+1G>C)
 dbSNP
13g.48362958G>TCA388159725RB1c.861+1G>T (n.861+1G>T)
c.600+1G>T (n.600+1G>T)
 ClinVar dbSNP COSMIC COSMIC
13g.48362958_48362959delinsGTCA2089981520RB1c.861+1_861+2delinsGT (n.861+1_861+2delinsGT)
c.600+1_600+2delinsGT (n.600+1_600+2delinsGT)
13g.48362959delCA16619812RB1c.861+2del (n.861+2del)
c.600+2del (n.600+2del)
 ClinVar dbSNP
13g.48362959T>ACA388159731RB1c.861+2T>A (n.861+2T>A)
c.600+2T>A (n.600+2T>A)
 COSMIC
13g.48362959T>CCA388159732RB1c.861+2T>C (n.861+2T>C)
c.600+2T>C (n.600+2T>C)
 ClinVar
13g.48362959T>GCA388159733RB1c.861+2T>G (n.861+2T>G)
c.600+2T>G (n.600+2T>G)
13g.48362960A>CCA2695218392RB1c.861+3A>C (n.861+3A>C)
c.600+3A>C (n.600+3A>C)
13g.48362960A>TCA2695218393RB1c.861+3A>T (n.861+3A>T)
c.600+3A>T (n.600+3A>T)
 dbSNP
13g.48362962T>ACA2727866310RB1c.861+5T>A (n.861+5T>A)
c.600+5T>A (n.600+5T>A)
 dbSNP
13g.48362962T>GCA609575007RB1c.861+5T>G (n.861+5T>G)
c.600+5T>G (n.600+5T>G)
 ClinVar dbSNP gnomAD v2
13g.48362962T=CA2089981521RB1c.861+5T= (n.861+5T=)
c.600+5T= (n.600+5T=)
13g.48362963T>ACA2727836428RB1c.861+6T>A (n.861+6T>A)
c.600+6T>A (n.600+6T>A)
 dbSNP
13g.48362963T>CCA249274446RB1c.861+6T>C (n.861+6T>C)
c.600+6T>C (n.600+6T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48362963T=CA2089981522RB1c.861+6T= (n.861+6T=)
c.600+6T= (n.600+6T=)
13g.48362964T>ACA2728042297RB1c.861+7T>A (n.861+7T>A)
c.600+7T>A (n.600+7T>A)
 dbSNP

Number of alleles fetched