Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.136297961A>CCA354644389PCCBc.773A>C (p.His258Pro)
c.704A>C (p.His235Pro)
c.866A>C (p.His289Pro)
c.833A>C (p.His278Pro)
n.730A>C
n.398A>C
n.687A>C
c.425A>C (p.His142Pro)
c.716A>C (p.His239Pro)
c.602A>C (p.His201Pro)
3g.136297961A>GCA354644391PCCBc.773A>G (p.His258Arg)
c.704A>G (p.His235Arg)
c.866A>G (p.His289Arg)
c.833A>G (p.His278Arg)
n.730A>G
n.398A>G
n.687A>G
c.425A>G (p.His142Arg)
c.716A>G (p.His239Arg)
c.602A>G (p.His201Arg)
 ClinVar gnomAD v4
3g.136297961A>TCA354644392PCCBc.773A>T (p.His258Leu)
c.704A>T (p.His235Leu)
c.866A>T (p.His289Leu)
c.833A>T (p.His278Leu)
n.730A>T
n.398A>T
n.687A>T
c.425A>T (p.His142Leu)
c.716A>T (p.His239Leu)
c.602A>T (p.His201Leu)
3g.136297962C>ACA354644395PCCBc.774C>A (p.His258Gln)
c.705C>A (p.His235Gln)
c.867C>A (p.His289Gln)
c.834C>A (p.His278Gln)
n.731C>A
n.399C>A
n.688C>A
c.426C>A (p.His142Gln)
c.717C>A (p.His239Gln)
c.603C>A (p.His201Gln)
3g.136297962C=CA1404333588PCCBc.774C= (p.His258=)
c.705C= (p.His235=)
c.867C= (p.His289=)
c.834C= (p.His278=)
n.731C=
n.399C=
n.688C=
c.426C= (p.His142=)
c.717C= (p.His239=)
c.603C= (p.His201=)
3g.136297962C>GCA2631870PCCBc.774C>G (p.His258Gln)
c.705C>G (p.His235Gln)
c.867C>G (p.His289Gln)
c.834C>G (p.His278Gln)
n.731C>G
n.399C>G
n.688C>G
c.426C>G (p.His142Gln)
c.717C>G (p.His239Gln)
c.603C>G (p.His201Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.136297962C>TCA435839857PCCBc.774C>T (p.His258=)
c.705C>T (p.His235=)
c.867C>T (p.His289=)
c.834C>T (p.His278=)
n.731C>T
n.399C>T
n.688C>T
c.426C>T (p.His142=)
c.717C>T (p.His239=)
c.603C>T (p.His201=)
 ClinVar dbSNP
3g.136297963A>CCA435839858PCCBc.775A>C (p.Arg259=)
c.706A>C (p.Arg236=)
c.868A>C (p.Arg290=)
c.835A>C (p.Arg279=)
n.732A>C
n.400A>C
n.689A>C
c.427A>C (p.Arg143=)
c.718A>C (p.Arg240=)
c.604A>C (p.Arg202=)
3g.136297963A>GCA354644398PCCBc.775A>G (p.Arg259Gly)
c.706A>G (p.Arg236Gly)
c.868A>G (p.Arg290Gly)
c.835A>G (p.Arg279Gly)
n.732A>G
n.400A>G
n.689A>G
c.427A>G (p.Arg143Gly)
c.718A>G (p.Arg240Gly)
c.604A>G (p.Arg202Gly)
 gnomAD v4
3g.136297963A>TCA354644401PCCBc.775A>T (p.Arg259Ter)
c.706A>T (p.Arg236Ter)
c.868A>T (p.Arg290Ter)
c.835A>T (p.Arg279Ter)
n.732A>T
n.400A>T
n.689A>T
c.427A>T (p.Arg143Ter)
c.718A>T (p.Arg240Ter)
c.604A>T (p.Arg202Ter)
3g.136297964G>ACA354644403PCCBc.776G>A (p.Arg259Lys)
c.707G>A (p.Arg236Lys)
c.869G>A (p.Arg290Lys)
c.836G>A (p.Arg279Lys)
n.733G>A
n.401G>A
n.690G>A
c.428G>A (p.Arg143Lys)
c.719G>A (p.Arg240Lys)
c.605G>A (p.Arg202Lys)
3g.136297964G>CCA354644409PCCBc.776G>C (p.Arg259Thr)
c.707G>C (p.Arg236Thr)
c.869G>C (p.Arg290Thr)
c.836G>C (p.Arg279Thr)
n.733G>C
n.401G>C
n.690G>C
c.428G>C (p.Arg143Thr)
c.719G>C (p.Arg240Thr)
c.605G>C (p.Arg202Thr)
3g.136297964G>TCA354644406PCCBc.776G>T (p.Arg259Ile)
c.707G>T (p.Arg236Ile)
c.869G>T (p.Arg290Ile)
c.836G>T (p.Arg279Ile)
n.733G>T
n.401G>T
n.690G>T
c.428G>T (p.Arg143Ile)
c.719G>T (p.Arg240Ile)
c.605G>T (p.Arg202Ile)
 gnomAD v4
3g.136297965A>CCA354644411PCCBc.777A>C (p.Arg259Ser)
c.708A>C (p.Arg236Ser)
c.870A>C (p.Arg290Ser)
c.837A>C (p.Arg279Ser)
n.734A>C
n.402A>C
n.691A>C
c.429A>C (p.Arg143Ser)
c.720A>C (p.Arg240Ser)
c.606A>C (p.Arg202Ser)
3g.136297965A>GCA435839859PCCBc.777A>G (p.Arg259=)
c.708A>G (p.Arg236=)
c.870A>G (p.Arg290=)
c.837A>G (p.Arg279=)
n.734A>G
n.402A>G
n.691A>G
c.429A>G (p.Arg143=)
c.720A>G (p.Arg240=)
c.606A>G (p.Arg202=)
3g.136297965A>TCA354644413PCCBc.777A>T (p.Arg259Ser)
c.708A>T (p.Arg236Ser)
c.870A>T (p.Arg290Ser)
c.837A>T (p.Arg279Ser)
n.734A>T
n.402A>T
n.691A>T
c.429A>T (p.Arg143Ser)
c.720A>T (p.Arg240Ser)
c.606A>T (p.Arg202Ser)
3g.136297966G>ACA354644416PCCBc.778G>A (p.Ala260Thr)
c.709G>A (p.Ala237Thr)
c.871G>A (p.Ala291Thr)
c.838G>A (p.Ala280Thr)
n.735G>A
n.403G>A
n.692G>A
c.430G>A (p.Ala144Thr)
c.721G>A (p.Ala241Thr)
c.607G>A (p.Ala203Thr)
3g.136297966G>CCA354644419PCCBc.778G>C (p.Ala260Pro)
c.709G>C (p.Ala237Pro)
c.871G>C (p.Ala291Pro)
c.838G>C (p.Ala280Pro)
n.735G>C
n.403G>C
n.692G>C
c.430G>C (p.Ala144Pro)
c.721G>C (p.Ala241Pro)
c.607G>C (p.Ala203Pro)
 gnomAD v4
3g.136297966G>TCA354644422PCCBc.778G>T (p.Ala260Ser)
c.709G>T (p.Ala237Ser)
c.871G>T (p.Ala291Ser)
c.838G>T (p.Ala280Ser)
n.735G>T
n.403G>T
n.692G>T
c.430G>T (p.Ala144Ser)
c.721G>T (p.Ala241Ser)
c.607G>T (p.Ala203Ser)
3g.136297967C>ACA354644424PCCBc.779C>A (p.Ala260Asp)
c.710C>A (p.Ala237Asp)
c.872C>A (p.Ala291Asp)
c.839C>A (p.Ala280Asp)
n.736C>A
n.404C>A
n.693C>A
c.431C>A (p.Ala144Asp)
c.722C>A (p.Ala241Asp)
c.608C>A (p.Ala203Asp)
3g.136297967C>GCA354644425PCCBc.779C>G (p.Ala260Gly)
c.710C>G (p.Ala237Gly)
c.872C>G (p.Ala291Gly)
c.839C>G (p.Ala280Gly)
n.736C>G
n.404C>G
n.693C>G
c.431C>G (p.Ala144Gly)
c.722C>G (p.Ala241Gly)
c.608C>G (p.Ala203Gly)
3g.136297967C>TCA354644428PCCBc.779C>T (p.Ala260Val)
c.710C>T (p.Ala237Val)
c.872C>T (p.Ala291Val)
c.839C>T (p.Ala280Val)
n.736C>T
n.404C>T
n.693C>T
c.431C>T (p.Ala144Val)
c.722C>T (p.Ala241Val)
c.608C>T (p.Ala203Val)
3g.136297968T>ACA435839861PCCBc.780T>A (p.Ala260=)
c.711T>A (p.Ala237=)
c.873T>A (p.Ala291=)
c.840T>A (p.Ala280=)
n.737T>A
n.405T>A
n.694T>A
c.432T>A (p.Ala144=)
c.723T>A (p.Ala241=)
c.609T>A (p.Ala203=)
3g.136297968T>CCA435839860PCCBc.780T>C (p.Ala260=)
c.711T>C (p.Ala237=)
c.873T>C (p.Ala291=)
c.840T>C (p.Ala280=)
n.737T>C
n.405T>C
n.694T>C
c.432T>C (p.Ala144=)
c.723T>C (p.Ala241=)
c.609T>C (p.Ala203=)
3g.136297968T>GCA2631871PCCBc.780T>G (p.Ala260=)
c.711T>G (p.Ala237=)
c.873T>G (p.Ala291=)
c.840T>G (p.Ala280=)
n.737T>G
n.405T>G
n.694T>G
c.432T>G (p.Ala144=)
c.723T>G (p.Ala241=)
c.609T>G (p.Ala203=)
 ClinVar dbSNP ExAC gnomAD v4
3g.136297968T=CA1404333591PCCBc.780T= (p.Ala260=)
c.711T= (p.Ala237=)
c.873T= (p.Ala291=)
c.840T= (p.Ala280=)
n.737T=
n.405T=
n.694T=
c.432T= (p.Ala144=)
c.723T= (p.Ala241=)
c.609T= (p.Ala203=)
3g.136297969T>ACA354644433PCCBc.781T>A (p.Phe261Ile)
c.712T>A (p.Phe238Ile)
c.874T>A (p.Phe292Ile)
c.841T>A (p.Phe281Ile)
n.738T>A
n.406T>A
n.695T>A
c.433T>A (p.Phe145Ile)
c.724T>A (p.Phe242Ile)
c.610T>A (p.Phe204Ile)
3g.136297969T>CCA354644435PCCBc.781T>C (p.Phe261Leu)
c.712T>C (p.Phe238Leu)
c.874T>C (p.Phe292Leu)
c.841T>C (p.Phe281Leu)
n.738T>C
n.406T>C
n.695T>C
c.433T>C (p.Phe145Leu)
c.724T>C (p.Phe242Leu)
c.610T>C (p.Phe204Leu)
3g.136297969T>GCA354644438PCCBc.781T>G (p.Phe261Val)
c.712T>G (p.Phe238Val)
c.874T>G (p.Phe292Val)
c.841T>G (p.Phe281Val)
n.738T>G
n.406T>G
n.695T>G
c.433T>G (p.Phe145Val)
c.724T>G (p.Phe242Val)
c.610T>G (p.Phe204Val)
3g.136297970T>ACA354644445PCCBc.782T>A (p.Phe261Tyr)
c.713T>A (p.Phe238Tyr)
c.875T>A (p.Phe292Tyr)
c.842T>A (p.Phe281Tyr)
n.739T>A
n.407T>A
n.696T>A
c.434T>A (p.Phe145Tyr)
c.725T>A (p.Phe242Tyr)
c.611T>A (p.Phe204Tyr)
3g.136297970T>CCA83796505PCCBc.782T>C (p.Phe261Ser)
c.713T>C (p.Phe238Ser)
c.875T>C (p.Phe292Ser)
c.842T>C (p.Phe281Ser)
n.739T>C
n.407T>C
n.696T>C
c.434T>C (p.Phe145Ser)
c.725T>C (p.Phe242Ser)
c.611T>C (p.Phe204Ser)
 dbSNP gnomAD v4
3g.136297970T>GCA354644443PCCBc.782T>G (p.Phe261Cys)
c.713T>G (p.Phe238Cys)
c.875T>G (p.Phe292Cys)
c.842T>G (p.Phe281Cys)
n.739T>G
n.407T>G
n.696T>G
c.434T>G (p.Phe145Cys)
c.725T>G (p.Phe242Cys)
c.611T>G (p.Phe204Cys)
3g.136297970T=CA1404333595PCCBc.782T= (p.Phe261=)
c.713T= (p.Phe238=)
c.875T= (p.Phe292=)
c.842T= (p.Phe281=)
n.739T=
n.407T=
n.696T=
c.434T= (p.Phe145=)
c.725T= (p.Phe242=)
c.611T= (p.Phe204=)
3g.136297971T>ACA354644448PCCBc.783T>A (p.Phe261Leu)
c.714T>A (p.Phe238Leu)
c.876T>A (p.Phe292Leu)
c.843T>A (p.Phe281Leu)
n.740T>A
n.408T>A
n.697T>A
c.435T>A (p.Phe145Leu)
c.726T>A (p.Phe242Leu)
c.612T>A (p.Phe204Leu)
3g.136297971T>CCA435839863PCCBc.783T>C (p.Phe261=)
c.714T>C (p.Phe238=)
c.876T>C (p.Phe292=)
c.843T>C (p.Phe281=)
n.740T>C
n.408T>C
n.697T>C
c.435T>C (p.Phe145=)
c.726T>C (p.Phe242=)
c.612T>C (p.Phe204=)
3g.136297971T>GCA354644450PCCBc.783T>G (p.Phe261Leu)
c.714T>G (p.Phe238Leu)
c.876T>G (p.Phe292Leu)
c.843T>G (p.Phe281Leu)
n.740T>G
n.408T>G
n.697T>G
c.435T>G (p.Phe145Leu)
c.726T>G (p.Phe242Leu)
c.612T>G (p.Phe204Leu)
 dbSNP gnomAD v4
3g.136297971T=CA1404333596PCCBc.783T= (p.Phe261=)
c.714T= (p.Phe238=)
c.876T= (p.Phe292=)
c.843T= (p.Phe281=)
n.740T=
n.408T=
n.697T=
c.435T= (p.Phe145=)
c.726T= (p.Phe242=)
c.612T= (p.Phe204=)
3g.136297972G>ACA354644452PCCBc.784G>A (p.Glu262Lys)
c.715G>A (p.Glu239Lys)
c.877G>A (p.Glu293Lys)
c.844G>A (p.Glu282Lys)
n.741G>A
n.409G>A
n.698G>A
c.436G>A (p.Glu146Lys)
c.727G>A (p.Glu243Lys)
c.613G>A (p.Glu205Lys)
3g.136297972G>CCA354644453PCCBc.784G>C (p.Glu262Gln)
c.715G>C (p.Glu239Gln)
c.877G>C (p.Glu293Gln)
c.844G>C (p.Glu282Gln)
n.741G>C
n.409G>C
n.698G>C
c.436G>C (p.Glu146Gln)
c.727G>C (p.Glu243Gln)
c.613G>C (p.Glu205Gln)
3g.136297972G>TCA354644456PCCBc.784G>T (p.Glu262Ter)
c.715G>T (p.Glu239Ter)
c.877G>T (p.Glu293Ter)
c.844G>T (p.Glu282Ter)
n.741G>T
n.409G>T
n.698G>T
c.436G>T (p.Glu146Ter)
c.727G>T (p.Glu243Ter)
c.613G>T (p.Glu205Ter)
3g.136297973A>CCA354644458PCCBc.785A>C (p.Glu262Ala)
c.716A>C (p.Glu239Ala)
c.878A>C (p.Glu293Ala)
c.845A>C (p.Glu282Ala)
n.742A>C
n.410A>C
n.699A>C
c.437A>C (p.Glu146Ala)
c.728A>C (p.Glu243Ala)
c.614A>C (p.Glu205Ala)
3g.136297973A>GCA354644459PCCBc.785A>G (p.Glu262Gly)
c.716A>G (p.Glu239Gly)
c.878A>G (p.Glu293Gly)
c.845A>G (p.Glu282Gly)
n.742A>G
n.410A>G
n.699A>G
c.437A>G (p.Glu146Gly)
c.728A>G (p.Glu243Gly)
c.614A>G (p.Glu205Gly)
3g.136297973A>TCA354644461PCCBc.785A>T (p.Glu262Val)
c.716A>T (p.Glu239Val)
c.878A>T (p.Glu293Val)
c.845A>T (p.Glu282Val)
n.742A>T
n.410A>T
n.699A>T
c.437A>T (p.Glu146Val)
c.728A>T (p.Glu243Val)
c.614A>T (p.Glu205Val)
3g.136297974A>CCA354644463PCCBc.786A>C (p.Glu262Asp)
c.717A>C (p.Glu239Asp)
c.879A>C (p.Glu293Asp)
c.846A>C (p.Glu282Asp)
n.743A>C
n.411A>C
n.700A>C
c.438A>C (p.Glu146Asp)
c.729A>C (p.Glu243Asp)
c.615A>C (p.Glu205Asp)
3g.136297974A>GCA435839867PCCBc.786A>G (p.Glu262=)
c.717A>G (p.Glu239=)
c.879A>G (p.Glu293=)
c.846A>G (p.Glu282=)
n.743A>G
n.411A>G
n.700A>G
c.438A>G (p.Glu146=)
c.729A>G (p.Glu243=)
c.615A>G (p.Glu205=)
 ClinVar
3g.136297974A>TCA354644464PCCBc.786A>T (p.Glu262Asp)
c.717A>T (p.Glu239Asp)
c.879A>T (p.Glu293Asp)
c.846A>T (p.Glu282Asp)
n.743A>T
n.411A>T
n.700A>T
c.438A>T (p.Glu146Asp)
c.729A>T (p.Glu243Asp)
c.615A>T (p.Glu205Asp)
3g.136297975A=CA1404333598PCCBc.787A= (p.Asn263=)
c.718A= (p.Asn240=)
c.880A= (p.Asn294=)
c.847A= (p.Asn283=)
n.744A=
n.412A=
n.701A=
c.439A= (p.Asn147=)
c.730A= (p.Asn244=)
c.616A= (p.Asn206=)
3g.136297975A>CCA354644469PCCBc.787A>C (p.Asn263His)
c.718A>C (p.Asn240His)
c.880A>C (p.Asn294His)
c.847A>C (p.Asn283His)
n.744A>C
n.412A>C
n.701A>C
c.439A>C (p.Asn147His)
c.730A>C (p.Asn244His)
c.616A>C (p.Asn206His)
3g.136297975A>GCA2631872PCCBc.787A>G (p.Asn263Asp)
c.718A>G (p.Asn240Asp)
c.880A>G (p.Asn294Asp)
c.847A>G (p.Asn283Asp)
n.744A>G
n.412A>G
n.701A>G
c.439A>G (p.Asn147Asp)
c.730A>G (p.Asn244Asp)
c.616A>G (p.Asn206Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.136297975A>TCA354644467PCCBc.787A>T (p.Asn263Tyr)
c.718A>T (p.Asn240Tyr)
c.880A>T (p.Asn294Tyr)
c.847A>T (p.Asn283Tyr)
n.744A>T
n.412A>T
n.701A>T
c.439A>T (p.Asn147Tyr)
c.730A>T (p.Asn244Tyr)
c.616A>T (p.Asn206Tyr)
3g.136297976A=CA1404333600PCCBc.788A= (p.Asn263=)
c.719A= (p.Asn240=)
c.881A= (p.Asn294=)
c.848A= (p.Asn283=)
n.745A=
n.413A=
n.702A=
c.440A= (p.Asn147=)
c.731A= (p.Asn244=)
c.617A= (p.Asn206=)
3g.136297976A>CCA354644470PCCBc.788A>C (p.Asn263Thr)
c.719A>C (p.Asn240Thr)
c.881A>C (p.Asn294Thr)
c.848A>C (p.Asn283Thr)
n.745A>C
n.413A>C
n.702A>C
c.440A>C (p.Asn147Thr)
c.731A>C (p.Asn244Thr)
c.617A>C (p.Asn206Thr)
3g.136297976A>GCA2631873PCCBc.788A>G (p.Asn263Ser)
c.719A>G (p.Asn240Ser)
c.881A>G (p.Asn294Ser)
c.848A>G (p.Asn283Ser)
n.745A>G
n.413A>G
n.702A>G
c.440A>G (p.Asn147Ser)
c.731A>G (p.Asn244Ser)
c.617A>G (p.Asn206Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.136297976A>TCA354644473PCCBc.788A>T (p.Asn263Ile)
c.719A>T (p.Asn240Ile)
c.881A>T (p.Asn294Ile)
c.848A>T (p.Asn283Ile)
n.745A>T
n.413A>T
n.702A>T
c.440A>T (p.Asn147Ile)
c.731A>T (p.Asn244Ile)
c.617A>T (p.Asn206Ile)
3g.136297977T>ACA354644475PCCBc.789T>A (p.Asn263Lys)
c.720T>A (p.Asn240Lys)
c.882T>A (p.Asn294Lys)
c.849T>A (p.Asn283Lys)
n.746T>A
n.414T>A
n.703T>A
c.441T>A (p.Asn147Lys)
c.732T>A (p.Asn244Lys)
c.618T>A (p.Asn206Lys)
3g.136297977T>CCA435839869PCCBc.789T>C (p.Asn263=)
c.720T>C (p.Asn240=)
c.882T>C (p.Asn294=)
c.849T>C (p.Asn283=)
n.746T>C
n.414T>C
n.703T>C
c.441T>C (p.Asn147=)
c.732T>C (p.Asn244=)
c.618T>C (p.Asn206=)
3g.136297977T>GCA354644477PCCBc.789T>G (p.Asn263Lys)
c.720T>G (p.Asn240Lys)
c.882T>G (p.Asn294Lys)
c.849T>G (p.Asn283Lys)
n.746T>G
n.414T>G
n.703T>G
c.441T>G (p.Asn147Lys)
c.732T>G (p.Asn244Lys)
c.618T>G (p.Asn206Lys)
3g.136297978G>ACA354644479PCCBc.790G>A (p.Asp264Asn)
c.721G>A (p.Asp241Asn)
c.883G>A (p.Asp295Asn)
c.850G>A (p.Asp284Asn)
n.747G>A
n.415G>A
n.704G>A
c.442G>A (p.Asp148Asn)
c.733G>A (p.Asp245Asn)
c.619G>A (p.Asp207Asn)
3g.136297978G>CCA354644480PCCBc.790G>C (p.Asp264His)
c.721G>C (p.Asp241His)
c.883G>C (p.Asp295His)
c.850G>C (p.Asp284His)
n.747G>C
n.415G>C
n.704G>C
c.442G>C (p.Asp148His)
c.733G>C (p.Asp245His)
c.619G>C (p.Asp207His)
3g.136297978G>TCA354644483PCCBc.790G>T (p.Asp264Tyr)
c.721G>T (p.Asp241Tyr)
c.883G>T (p.Asp295Tyr)
c.850G>T (p.Asp284Tyr)
n.747G>T
n.415G>T
n.704G>T
c.442G>T (p.Asp148Tyr)
c.733G>T (p.Asp245Tyr)
c.619G>T (p.Asp207Tyr)
3g.136297978dupCA2586972954PCCBc.790dup (p.Asp264GlyfsTer3)
c.721dup (p.Asp241GlyfsTer3)
c.883dup (p.Asp295GlyfsTer3)
c.850dup (p.Asp284GlyfsTer3)
n.747dup
n.415dup
n.704dup
c.442dup (p.Asp148GlyfsTer3)
c.733dup (p.Asp245GlyfsTer3)
c.619dup (p.Asp207GlyfsTer3)
3g.136297979A=CA1404333601PCCBc.791A= (p.Asp264=)
c.722A= (p.Asp241=)
c.884A= (p.Asp295=)
c.851A= (p.Asp284=)
n.748A=
n.416A=
n.705A=
c.443A= (p.Asp148=)
c.734A= (p.Asp245=)
c.620A= (p.Asp207=)
3g.136297979A>CCA354644487PCCBc.791A>C (p.Asp264Ala)
c.722A>C (p.Asp241Ala)
c.884A>C (p.Asp295Ala)
c.851A>C (p.Asp284Ala)
n.748A>C
n.416A>C
n.705A>C
c.443A>C (p.Asp148Ala)
c.734A>C (p.Asp245Ala)
c.620A>C (p.Asp207Ala)
3g.136297979A>GCA354644489PCCBc.791A>G (p.Asp264Gly)
c.722A>G (p.Asp241Gly)
c.884A>G (p.Asp295Gly)
c.851A>G (p.Asp284Gly)
n.748A>G
n.416A>G
n.705A>G
c.443A>G (p.Asp148Gly)
c.734A>G (p.Asp245Gly)
c.620A>G (p.Asp207Gly)
 ClinVar dbSNP gnomAD v4
3g.136297979A>TCA354644491PCCBc.791A>T (p.Asp264Val)
c.722A>T (p.Asp241Val)
c.884A>T (p.Asp295Val)
c.851A>T (p.Asp284Val)
n.748A>T
n.416A>T
n.705A>T
c.443A>T (p.Asp148Val)
c.734A>T (p.Asp245Val)
c.620A>T (p.Asp207Val)
 gnomAD v4
3g.136297980T>ACA354644494PCCBc.792T>A (p.Asp264Glu)
c.723T>A (p.Asp241Glu)
c.885T>A (p.Asp295Glu)
c.852T>A (p.Asp284Glu)
n.749T>A
n.417T>A
n.706T>A
c.444T>A (p.Asp148Glu)
c.735T>A (p.Asp245Glu)
c.621T>A (p.Asp207Glu)
3g.136297980T>CCA435839870PCCBc.792T>C (p.Asp264=)
c.723T>C (p.Asp241=)
c.885T>C (p.Asp295=)
c.852T>C (p.Asp284=)
n.749T>C
n.417T>C
n.706T>C
c.444T>C (p.Asp148=)
c.735T>C (p.Asp245=)
c.621T>C (p.Asp207=)
 dbSNP gnomAD v2
3g.136297980T>GCA354644497PCCBc.792T>G (p.Asp264Glu)
c.723T>G (p.Asp241Glu)
c.885T>G (p.Asp295Glu)
c.852T>G (p.Asp284Glu)
n.749T>G
n.417T>G
n.706T>G
c.444T>G (p.Asp148Glu)
c.735T>G (p.Asp245Glu)
c.621T>G (p.Asp207Glu)
3g.136297980T=CA1404333602PCCBc.792T= (p.Asp264=)
c.723T= (p.Asp241=)
c.885T= (p.Asp295=)
c.852T= (p.Asp284=)
n.749T=
n.417T=
n.706T=
c.444T= (p.Asp148=)
c.735T= (p.Asp245=)
c.621T= (p.Asp207=)
3g.136297982_136297984delCA2667840008PCCBc.794_796del (p.Val265del)
c.725_727del (p.Val242del)
c.887_889del (p.Val296del)
c.854_856del (p.Val285del)
n.751_753del
n.419_421del
n.708_710del
c.446_448del (p.Val149del)
c.737_739del (p.Val246del)
c.623_625del (p.Val208del)
 gnomAD v4
3g.136297981G>ACA83796512PCCBc.793G>A (p.Val265Ile)
c.724G>A (p.Val242Ile)
c.886G>A (p.Val296Ile)
c.853G>A (p.Val285Ile)
n.750G>A
n.418G>A
n.707G>A
c.445G>A (p.Val149Ile)
c.736G>A (p.Val246Ile)
c.622G>A (p.Val208Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.136297981G>CCA354644502PCCBc.793G>C (p.Val265Leu)
c.724G>C (p.Val242Leu)
c.886G>C (p.Val296Leu)
c.853G>C (p.Val285Leu)
n.750G>C
n.418G>C
n.707G>C
c.445G>C (p.Val149Leu)
c.736G>C (p.Val246Leu)
c.622G>C (p.Val208Leu)
3g.136297981G=CA1404333603PCCBc.793G= (p.Val265=)
c.724G= (p.Val242=)
c.886G= (p.Val296=)
c.853G= (p.Val285=)
n.750G=
n.418G=
n.707G=
c.445G= (p.Val149=)
c.736G= (p.Val246=)
c.622G= (p.Val208=)
3g.136297981G>TCA354644500PCCBc.793G>T (p.Val265Phe)
c.724G>T (p.Val242Phe)
c.886G>T (p.Val296Phe)
c.853G>T (p.Val285Phe)
n.750G>T
n.418G>T
n.707G>T
c.445G>T (p.Val149Phe)
c.736G>T (p.Val246Phe)
c.622G>T (p.Val208Phe)
3g.136297982T>ACA354644506PCCBc.794T>A (p.Val265Asp)
c.725T>A (p.Val242Asp)
c.887T>A (p.Val296Asp)
c.854T>A (p.Val285Asp)
n.751T>A
n.419T>A
n.708T>A
c.446T>A (p.Val149Asp)
c.737T>A (p.Val246Asp)
c.623T>A (p.Val208Asp)
 dbSNP gnomAD v2 gnomAD v4
3g.136297982T>CCA354644508PCCBc.794T>C (p.Val265Ala)
c.725T>C (p.Val242Ala)
c.887T>C (p.Val296Ala)
c.854T>C (p.Val285Ala)
n.751T>C
n.419T>C
n.708T>C
c.446T>C (p.Val149Ala)
c.737T>C (p.Val246Ala)
c.623T>C (p.Val208Ala)
3g.136297982T>GCA354644510PCCBc.794T>G (p.Val265Gly)
c.725T>G (p.Val242Gly)
c.887T>G (p.Val296Gly)
c.854T>G (p.Val285Gly)
n.751T>G
n.419T>G
n.708T>G
c.446T>G (p.Val149Gly)
c.737T>G (p.Val246Gly)
c.623T>G (p.Val208Gly)
3g.136297982T=CA1404333604PCCBc.794T= (p.Val265=)
c.725T= (p.Val242=)
c.887T= (p.Val296=)
c.854T= (p.Val285=)
n.751T=
n.419T=
n.708T=
c.446T= (p.Val149=)
c.737T= (p.Val246=)
c.623T= (p.Val208=)
3g.136297983dupCA2667840009PCCBc.795dup (p.Asp266Ter)
c.726dup (p.Asp243Ter)
c.888dup (p.Asp297Ter)
c.855dup (p.Asp286Ter)
n.752dup
n.420dup
n.709dup
c.447dup (p.Asp150Ter)
c.738dup (p.Asp247Ter)
c.624dup (p.Asp209Ter)
 gnomAD v4
3g.136297983T>ACA435839873PCCBc.795T>A (p.Val265=)
c.726T>A (p.Val242=)
c.888T>A (p.Val296=)
c.855T>A (p.Val285=)
n.752T>A
n.420T>A
n.709T>A
c.447T>A (p.Val149=)
c.738T>A (p.Val246=)
c.624T>A (p.Val208=)
3g.136297983T>CCA435839875PCCBc.795T>C (p.Val265=)
c.726T>C (p.Val242=)
c.888T>C (p.Val296=)
c.855T>C (p.Val285=)
n.752T>C
n.420T>C
n.709T>C
c.447T>C (p.Val149=)
c.738T>C (p.Val246=)
c.624T>C (p.Val208=)
 dbSNP gnomAD v3 gnomAD v4
3g.136297983T>GCA435839877PCCBc.795T>G (p.Val265=)
c.726T>G (p.Val242=)
c.888T>G (p.Val296=)
c.855T>G (p.Val285=)
n.752T>G
n.420T>G
n.709T>G
c.447T>G (p.Val149=)
c.738T>G (p.Val246=)
c.624T>G (p.Val208=)
3g.136297983T=CA1404333605PCCBc.795T= (p.Val265=)
c.726T= (p.Val242=)
c.888T= (p.Val296=)
c.855T= (p.Val285=)
n.752T=
n.420T=
n.709T=
c.447T= (p.Val149=)
c.738T= (p.Val246=)
c.624T= (p.Val208=)
3g.136297984G>ACA354644513PCCBc.796G>A (p.Asp266Asn)
c.727G>A (p.Asp243Asn)
c.889G>A (p.Asp297Asn)
c.856G>A (p.Asp286Asn)
n.753G>A
n.421G>A
n.710G>A
c.448G>A (p.Asp150Asn)
c.739G>A (p.Asp247Asn)
c.625G>A (p.Asp209Asn)
3g.136297984G>CCA354644516PCCBc.796G>C (p.Asp266His)
c.727G>C (p.Asp243His)
c.889G>C (p.Asp297His)
c.856G>C (p.Asp286His)
n.753G>C
n.421G>C
n.710G>C
c.448G>C (p.Asp150His)
c.739G>C (p.Asp247His)
c.625G>C (p.Asp209His)
3g.136297984G=CA1404333606PCCBc.796G= (p.Asp266=)
c.727G= (p.Asp243=)
c.889G= (p.Asp297=)
c.856G= (p.Asp286=)
n.753G=
n.421G=
n.710G=
c.448G= (p.Asp150=)
c.739G= (p.Asp247=)
c.625G= (p.Asp209=)
3g.136297984G>TCA354644517PCCBc.796G>T (p.Asp266Tyr)
c.727G>T (p.Asp243Tyr)
c.889G>T (p.Asp297Tyr)
c.856G>T (p.Asp286Tyr)
n.753G>T
n.421G>T
n.710G>T
c.448G>T (p.Asp150Tyr)
c.739G>T (p.Asp247Tyr)
c.625G>T (p.Asp209Tyr)
 dbSNP gnomAD v2
3g.136297985A>CCA354644520PCCBc.797A>C (p.Asp266Ala)
c.728A>C (p.Asp243Ala)
c.890A>C (p.Asp297Ala)
c.857A>C (p.Asp286Ala)
n.754A>C
n.422A>C
n.711A>C
c.449A>C (p.Asp150Ala)
c.740A>C (p.Asp247Ala)
c.626A>C (p.Asp209Ala)
3g.136297985A>GCA354644522PCCBc.797A>G (p.Asp266Gly)
c.728A>G (p.Asp243Gly)
c.890A>G (p.Asp297Gly)
c.857A>G (p.Asp286Gly)
n.754A>G
n.422A>G
n.711A>G
c.449A>G (p.Asp150Gly)
c.740A>G (p.Asp247Gly)
c.626A>G (p.Asp209Gly)
3g.136297985A>TCA354644525PCCBc.797A>T (p.Asp266Val)
c.728A>T (p.Asp243Val)
c.890A>T (p.Asp297Val)
c.857A>T (p.Asp286Val)
n.754A>T
n.422A>T
n.711A>T
c.449A>T (p.Asp150Val)
c.740A>T (p.Asp247Val)
c.626A>T (p.Asp209Val)
 ClinVar gnomAD v4
3g.136297986T>ACA354644528PCCBc.798T>A (p.Asp266Glu)
c.729T>A (p.Asp243Glu)
c.891T>A (p.Asp297Glu)
c.858T>A (p.Asp286Glu)
n.755T>A
n.423T>A
n.712T>A
c.450T>A (p.Asp150Glu)
c.741T>A (p.Asp247Glu)
c.627T>A (p.Asp209Glu)
3g.136297986T>CCA435839881PCCBc.798T>C (p.Asp266=)
c.729T>C (p.Asp243=)
c.891T>C (p.Asp297=)
c.858T>C (p.Asp286=)
n.755T>C
n.423T>C
n.712T>C
c.450T>C (p.Asp150=)
c.741T>C (p.Asp247=)
c.627T>C (p.Asp209=)
3g.136297986T>GCA354644532PCCBc.798T>G (p.Asp266Glu)
c.729T>G (p.Asp243Glu)
c.891T>G (p.Asp297Glu)
c.858T>G (p.Asp286Glu)
n.755T>G
n.423T>G
n.712T>G
c.450T>G (p.Asp150Glu)
c.741T>G (p.Asp247Glu)
c.627T>G (p.Asp209Glu)
3g.136297987G>ACA354644537PCCBc.799G>A (p.Ala267Thr)
c.730G>A (p.Ala244Thr)
c.892G>A (p.Ala298Thr)
c.859G>A (p.Ala287Thr)
n.756G>A
n.424G>A
n.713G>A
c.451G>A (p.Ala151Thr)
c.742G>A (p.Ala248Thr)
c.628G>A (p.Ala210Thr)
3g.136297987G>CCA354644535PCCBc.799G>C (p.Ala267Pro)
c.730G>C (p.Ala244Pro)
c.892G>C (p.Ala298Pro)
c.859G>C (p.Ala287Pro)
n.756G>C
n.424G>C
n.713G>C
c.451G>C (p.Ala151Pro)
c.742G>C (p.Ala248Pro)
c.628G>C (p.Ala210Pro)
3g.136297987G=CA1404333607PCCBc.799G= (p.Ala267=)
c.730G= (p.Ala244=)
c.892G= (p.Ala298=)
c.859G= (p.Ala287=)
n.756G=
n.424G=
n.713G=
c.451G= (p.Ala151=)
c.742G= (p.Ala248=)
c.628G= (p.Ala210=)
3g.136297987G>TCA2631874PCCBc.799G>T (p.Ala267Ser)
c.730G>T (p.Ala244Ser)
c.892G>T (p.Ala298Ser)
c.859G>T (p.Ala287Ser)
n.756G>T
n.424G>T
n.713G>T
c.451G>T (p.Ala151Ser)
c.742G>T (p.Ala248Ser)
c.628G>T (p.Ala210Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.136297988C>ACA354644543PCCBc.800C>A (p.Ala267Asp)
c.731C>A (p.Ala244Asp)
c.893C>A (p.Ala298Asp)
c.860C>A (p.Ala287Asp)
n.757C>A
n.425C>A
n.714C>A
c.452C>A (p.Ala151Asp)
c.743C>A (p.Ala248Asp)
c.629C>A (p.Ala210Asp)
 ClinVar dbSNP gnomAD v4
3g.136297988C=CA1404333608PCCBc.800C= (p.Ala267=)
c.731C= (p.Ala244=)
c.893C= (p.Ala298=)
c.860C= (p.Ala287=)
n.757C=
n.425C=
n.714C=
c.452C= (p.Ala151=)
c.743C= (p.Ala248=)
c.629C= (p.Ala210=)
3g.136297988C>GCA2631875PCCBc.800C>G (p.Ala267Gly)
c.731C>G (p.Ala244Gly)
c.893C>G (p.Ala298Gly)
c.860C>G (p.Ala287Gly)
n.757C>G
n.425C>G
n.714C>G
c.452C>G (p.Ala151Gly)
c.743C>G (p.Ala248Gly)
c.629C>G (p.Ala210Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.136297988C>TCA354644540PCCBc.800C>T (p.Ala267Val)
c.731C>T (p.Ala244Val)
c.893C>T (p.Ala298Val)
c.860C>T (p.Ala287Val)
n.757C>T
n.425C>T
n.714C>T
c.452C>T (p.Ala151Val)
c.743C>T (p.Ala248Val)
c.629C>T (p.Ala210Val)
3g.136297989C>ACA435839885PCCBc.801C>A (p.Ala267=)
c.732C>A (p.Ala244=)
c.894C>A (p.Ala298=)
c.861C>A (p.Ala287=)
n.758C>A
n.426C>A
n.715C>A
c.453C>A (p.Ala151=)
c.744C>A (p.Ala248=)
c.630C>A (p.Ala210=)
3g.136297989C=CA1404333609PCCBc.801C= (p.Ala267=)
c.732C= (p.Ala244=)
c.894C= (p.Ala298=)
c.861C= (p.Ala287=)
n.758C=
n.426C=
n.715C=
c.453C= (p.Ala151=)
c.744C= (p.Ala248=)
c.630C= (p.Ala210=)
3g.136297989C>GCA435839886PCCBc.801C>G (p.Ala267=)
c.732C>G (p.Ala244=)
c.894C>G (p.Ala298=)
c.861C>G (p.Ala287=)
n.758C>G
n.426C>G
n.715C>G
c.453C>G (p.Ala151=)
c.744C>G (p.Ala248=)
c.630C>G (p.Ala210=)
3g.136297989C>TCA2631876PCCBc.801C>T (p.Ala267=)
c.732C>T (p.Ala244=)
c.894C>T (p.Ala298=)
c.861C>T (p.Ala287=)
n.758C>T
n.426C>T
n.715C>T
c.453C>T (p.Ala151=)
c.744C>T (p.Ala248=)
c.630C>T (p.Ala210=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.136297990T>ACA354644547PCCBc.802T>A (p.Leu268Met)
c.733T>A (p.Leu245Met)
c.895T>A (p.Leu299Met)
c.862T>A (p.Leu288Met)
n.759T>A
n.427T>A
n.716T>A
c.454T>A (p.Leu152Met)
c.745T>A (p.Leu249Met)
c.631T>A (p.Leu211Met)
3g.136297990T>CCA435839887PCCBc.802T>C (p.Leu268=)
c.733T>C (p.Leu245=)
c.895T>C (p.Leu299=)
c.862T>C (p.Leu288=)
n.759T>C
n.427T>C
n.716T>C
c.454T>C (p.Leu152=)
c.745T>C (p.Leu249=)
c.631T>C (p.Leu211=)
3g.136297990T>GCA354644550PCCBc.802T>G (p.Leu268Val)
c.733T>G (p.Leu245Val)
c.895T>G (p.Leu299Val)
c.862T>G (p.Leu288Val)
n.759T>G
n.427T>G
n.716T>G
c.454T>G (p.Leu152Val)
c.745T>G (p.Leu249Val)
c.631T>G (p.Leu211Val)
3g.136297991T>ACA354644554PCCBc.803T>A (p.Leu268Ter)
c.734T>A (p.Leu245Ter)
c.896T>A (p.Leu299Ter)
c.863T>A (p.Leu288Ter)
n.760T>A
n.428T>A
n.717T>A
c.455T>A (p.Leu152Ter)
c.746T>A (p.Leu249Ter)
c.632T>A (p.Leu211Ter)
3g.136297991T>CCA354644556PCCBc.803T>C (p.Leu268Ser)
c.734T>C (p.Leu245Ser)
c.896T>C (p.Leu299Ser)
c.863T>C (p.Leu288Ser)
n.760T>C
n.428T>C
n.717T>C
c.455T>C (p.Leu152Ser)
c.746T>C (p.Leu249Ser)
c.632T>C (p.Leu211Ser)
3g.136297991T>GCA354644558PCCBc.803T>G (p.Leu268Trp)
c.734T>G (p.Leu245Trp)
c.896T>G (p.Leu299Trp)
c.863T>G (p.Leu288Trp)
n.760T>G
n.428T>G
n.717T>G
c.455T>G (p.Leu152Trp)
c.746T>G (p.Leu249Trp)
c.632T>G (p.Leu211Trp)
 dbSNP gnomAD v3 gnomAD v4
3g.136297992G>ACA435839891PCCBc.804G>A (p.Leu268=)
c.735G>A (p.Leu245=)
c.897G>A (p.Leu299=)
c.864G>A (p.Leu288=)
n.761G>A
n.429G>A
n.718G>A
c.456G>A (p.Leu152=)
c.747G>A (p.Leu249=)
c.633G>A (p.Leu211=)
 dbSNP gnomAD v3 gnomAD v4
3g.136297992G>CCA2631877PCCBc.804G>C (p.Leu268Phe)
c.735G>C (p.Leu245Phe)
c.897G>C (p.Leu299Phe)
c.864G>C (p.Leu288Phe)
n.761G>C
n.429G>C
n.718G>C
c.456G>C (p.Leu152Phe)
c.747G>C (p.Leu249Phe)
c.633G>C (p.Leu211Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.136297992G=CA1404333610PCCBc.804G= (p.Leu268=)
c.735G= (p.Leu245=)
c.897G= (p.Leu299=)
c.864G= (p.Leu288=)
n.761G=
n.429G=
n.718G=
c.456G= (p.Leu152=)
c.747G= (p.Leu249=)
c.633G= (p.Leu211=)
3g.136297992G>TCA83796516PCCBc.804G>T (p.Leu268Phe)
c.735G>T (p.Leu245Phe)
c.897G>T (p.Leu299Phe)
c.864G>T (p.Leu288Phe)
n.761G>T
n.429G>T
n.718G>T
c.456G>T (p.Leu152Phe)
c.747G>T (p.Leu249Phe)
c.633G>T (p.Leu211Phe)
 dbSNP gnomAD v2 gnomAD v4
3g.136297993T>ACA354644563PCCBc.805T>A (p.Cys269Ser)
c.736T>A (p.Cys246Ser)
c.898T>A (p.Cys300Ser)
c.865T>A (p.Cys289Ser)
n.762T>A
n.430T>A
n.719T>A
c.457T>A (p.Cys153Ser)
c.748T>A (p.Cys250Ser)
c.634T>A (p.Cys212Ser)
3g.136297993T>CCA354644566PCCBc.805T>C (p.Cys269Arg)
c.736T>C (p.Cys246Arg)
c.898T>C (p.Cys300Arg)
c.865T>C (p.Cys289Arg)
n.762T>C
n.430T>C
n.719T>C
c.457T>C (p.Cys153Arg)
c.748T>C (p.Cys250Arg)
c.634T>C (p.Cys212Arg)
3g.136297993T>GCA354644568PCCBc.805T>G (p.Cys269Gly)
c.736T>G (p.Cys246Gly)
c.898T>G (p.Cys300Gly)
c.865T>G (p.Cys289Gly)
n.762T>G
n.430T>G
n.719T>G
c.457T>G (p.Cys153Gly)
c.748T>G (p.Cys250Gly)
c.634T>G (p.Cys212Gly)
 gnomAD v4
3g.136297994G>ACA354644576PCCBc.806G>A (p.Cys269Tyr)
c.737G>A (p.Cys246Tyr)
c.899G>A (p.Cys300Tyr)
c.866G>A (p.Cys289Tyr)
n.763G>A
n.431G>A
n.720G>A
c.458G>A (p.Cys153Tyr)
c.749G>A (p.Cys250Tyr)
c.635G>A (p.Cys212Tyr)
 gnomAD v4
3g.136297994G>CCA354644573PCCBc.806G>C (p.Cys269Ser)
c.737G>C (p.Cys246Ser)
c.899G>C (p.Cys300Ser)
c.866G>C (p.Cys289Ser)
n.763G>C
n.431G>C
n.720G>C
c.458G>C (p.Cys153Ser)
c.749G>C (p.Cys250Ser)
c.635G>C (p.Cys212Ser)
3g.136297994G>TCA354644571PCCBc.806G>T (p.Cys269Phe)
c.737G>T (p.Cys246Phe)
c.899G>T (p.Cys300Phe)
c.866G>T (p.Cys289Phe)
n.763G>T
n.431G>T
n.720G>T
c.458G>T (p.Cys153Phe)
c.749G>T (p.Cys250Phe)
c.635G>T (p.Cys212Phe)
3g.136297995T>ACA354644579PCCBc.807T>A (p.Cys269Ter)
c.738T>A (p.Cys246Ter)
c.900T>A (p.Cys300Ter)
c.867T>A (p.Cys289Ter)
n.764T>A
n.432T>A
n.721T>A
c.459T>A (p.Cys153Ter)
c.750T>A (p.Cys250Ter)
c.636T>A (p.Cys212Ter)
3g.136297995T>CCA435839894PCCBc.807T>C (p.Cys269=)
c.738T>C (p.Cys246=)
c.900T>C (p.Cys300=)
c.867T>C (p.Cys289=)
n.764T>C
n.432T>C
n.721T>C
c.459T>C (p.Cys153=)
c.750T>C (p.Cys250=)
c.636T>C (p.Cys212=)
3g.136297995T>GCA354644580PCCBc.807T>G (p.Cys269Trp)
c.738T>G (p.Cys246Trp)
c.900T>G (p.Cys300Trp)
c.867T>G (p.Cys289Trp)
n.764T>G
n.432T>G
n.721T>G
c.459T>G (p.Cys153Trp)
c.750T>G (p.Cys250Trp)
c.636T>G (p.Cys212Trp)
3g.136297996A=CA1404333611PCCBc.808A= (p.Asn270=)
c.739A= (p.Asn247=)
c.901A= (p.Asn301=)
c.868A= (p.Asn290=)
n.765A=
n.433A=
n.722A=
c.460A= (p.Asn154=)
c.751A= (p.Asn251=)
c.637A= (p.Asn213=)
3g.136297996A>CCA354644582PCCBc.808A>C (p.Asn270His)
c.739A>C (p.Asn247His)
c.901A>C (p.Asn301His)
c.868A>C (p.Asn290His)
n.765A>C
n.433A>C
n.722A>C
c.460A>C (p.Asn154His)
c.751A>C (p.Asn251His)
c.637A>C (p.Asn213His)
 dbSNP gnomAD v3 gnomAD v4
3g.136297996A>GCA354644585PCCBc.808A>G (p.Asn270Asp)
c.739A>G (p.Asn247Asp)
c.901A>G (p.Asn301Asp)
c.868A>G (p.Asn290Asp)
n.765A>G
n.433A>G
n.722A>G
c.460A>G (p.Asn154Asp)
c.751A>G (p.Asn251Asp)
c.637A>G (p.Asn213Asp)
 ClinVar
3g.136297996A>TCA354644588PCCBc.808A>T (p.Asn270Tyr)
c.739A>T (p.Asn247Tyr)
c.901A>T (p.Asn301Tyr)
c.868A>T (p.Asn290Tyr)
n.765A>T
n.433A>T
n.722A>T
c.460A>T (p.Asn154Tyr)
c.751A>T (p.Asn251Tyr)
c.637A>T (p.Asn213Tyr)
3g.136297997delCA2580068802PCCBc.809del (p.Asn270IlefsTer11)
c.740del (p.Asn247IlefsTer11)
c.902del (p.Asn301IlefsTer11)
c.869del (p.Asn290IlefsTer11)
n.766del
n.434del
n.723del
c.461del (p.Asn154IlefsTer11)
c.752del (p.Asn251IlefsTer11)
c.638del (p.Asn213IlefsTer11)
 ClinVar
3g.136297997A=CA1404333612PCCBc.809A= (p.Asn270=)
c.740A= (p.Asn247=)
c.902A= (p.Asn301=)
c.869A= (p.Asn290=)
n.766A=
n.434A=
n.723A=
c.461A= (p.Asn154=)
c.752A= (p.Asn251=)
c.638A= (p.Asn213=)
3g.136297997A>CCA354644592PCCBc.809A>C (p.Asn270Thr)
c.740A>C (p.Asn247Thr)
c.902A>C (p.Asn301Thr)
c.869A>C (p.Asn290Thr)
n.766A>C
n.434A>C
n.723A>C
c.461A>C (p.Asn154Thr)
c.752A>C (p.Asn251Thr)
c.638A>C (p.Asn213Thr)
3g.136297997A>GCA354644594PCCBc.809A>G (p.Asn270Ser)
c.740A>G (p.Asn247Ser)
c.902A>G (p.Asn301Ser)
c.869A>G (p.Asn290Ser)
n.766A>G
n.434A>G
n.723A>G
c.461A>G (p.Asn154Ser)
c.752A>G (p.Asn251Ser)
c.638A>G (p.Asn213Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.136297997A>TCA354644596PCCBc.809A>T (p.Asn270Ile)
c.740A>T (p.Asn247Ile)
c.902A>T (p.Asn301Ile)
c.869A>T (p.Asn290Ile)
n.766A>T
n.434A>T
n.723A>T
c.461A>T (p.Asn154Ile)
c.752A>T (p.Asn251Ile)
c.638A>T (p.Asn213Ile)
3g.136297998T>ACA354644599PCCBc.810T>A (p.Asn270Lys)
c.741T>A (p.Asn247Lys)
c.903T>A (p.Asn301Lys)
c.870T>A (p.Asn290Lys)
n.767T>A
n.435T>A
n.724T>A
c.462T>A (p.Asn154Lys)
c.753T>A (p.Asn251Lys)
c.639T>A (p.Asn213Lys)
3g.136297998T>CCA435839896PCCBc.810T>C (p.Asn270=)
c.741T>C (p.Asn247=)
c.903T>C (p.Asn301=)
c.870T>C (p.Asn290=)
n.767T>C
n.435T>C
n.724T>C
c.462T>C (p.Asn154=)
c.753T>C (p.Asn251=)
c.639T>C (p.Asn213=)
3g.136297998T>GCA354644601PCCBc.810T>G (p.Asn270Lys)
c.741T>G (p.Asn247Lys)
c.903T>G (p.Asn301Lys)
c.870T>G (p.Asn290Lys)
n.767T>G
n.435T>G
n.724T>G
c.462T>G (p.Asn154Lys)
c.753T>G (p.Asn251Lys)
c.639T>G (p.Asn213Lys)
3g.136297999C>ACA354644603PCCBc.811C>A (p.Leu271Ile)
c.742C>A (p.Leu248Ile)
c.904C>A (p.Leu302Ile)
c.871C>A (p.Leu291Ile)
n.768C>A
n.436C>A
n.725C>A
c.463C>A (p.Leu155Ile)
c.754C>A (p.Leu252Ile)
c.640C>A (p.Leu214Ile)
3g.136297999C>GCA354644606PCCBc.811C>G (p.Leu271Val)
c.742C>G (p.Leu248Val)
c.904C>G (p.Leu302Val)
c.871C>G (p.Leu291Val)
n.768C>G
n.436C>G
n.725C>G
c.463C>G (p.Leu155Val)
c.754C>G (p.Leu252Val)
c.640C>G (p.Leu214Val)
3g.136297999C>TCA354644609PCCBc.811C>T (p.Leu271Phe)
c.742C>T (p.Leu248Phe)
c.904C>T (p.Leu302Phe)
c.871C>T (p.Leu291Phe)
n.768C>T
n.436C>T
n.725C>T
c.463C>T (p.Leu155Phe)
c.754C>T (p.Leu252Phe)
c.640C>T (p.Leu214Phe)
 ClinVar
3g.136298000T>ACA354644620PCCBc.812T>A (p.Leu271His)
c.743T>A (p.Leu248His)
c.905T>A (p.Leu302His)
c.872T>A (p.Leu291His)
n.769T>A
n.437T>A
n.726T>A
c.464T>A (p.Leu155His)
c.755T>A (p.Leu252His)
c.641T>A (p.Leu214His)
 gnomAD v4
3g.136298000T>CCA354644622PCCBc.812T>C (p.Leu271Pro)
c.743T>C (p.Leu248Pro)
c.905T>C (p.Leu302Pro)
c.872T>C (p.Leu291Pro)
n.769T>C
n.437T>C
n.726T>C
c.464T>C (p.Leu155Pro)
c.755T>C (p.Leu252Pro)
c.641T>C (p.Leu214Pro)
3g.136298000T>GCA354644617PCCBc.812T>G (p.Leu271Arg)
c.743T>G (p.Leu248Arg)
c.905T>G (p.Leu302Arg)
c.872T>G (p.Leu291Arg)
n.769T>G
n.437T>G
n.726T>G
c.464T>G (p.Leu155Arg)
c.755T>G (p.Leu252Arg)
c.641T>G (p.Leu214Arg)
3g.136298001C>ACA435839898PCCBc.813C>A (p.Leu271=)
c.744C>A (p.Leu248=)
c.906C>A (p.Leu302=)
c.873C>A (p.Leu291=)
n.770C>A
n.438C>A
n.727C>A
c.465C>A (p.Leu155=)
c.756C>A (p.Leu252=)
c.642C>A (p.Leu214=)
3g.136298001C=CA1404333613PCCBc.813C= (p.Leu271=)
c.744C= (p.Leu248=)
c.906C= (p.Leu302=)
c.873C= (p.Leu291=)
n.770C=
n.438C=
n.727C=
c.465C= (p.Leu155=)
c.756C= (p.Leu252=)
c.642C= (p.Leu214=)
3g.136298001C>GCA2631878PCCBc.813C>G (p.Leu271=)
c.744C>G (p.Leu248=)
c.906C>G (p.Leu302=)
c.873C>G (p.Leu291=)
n.770C>G
n.438C>G
n.727C>G
c.465C>G (p.Leu155=)
c.756C>G (p.Leu252=)
c.642C>G (p.Leu214=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.136298001C>TCA435839900PCCBc.813C>T (p.Leu271=)
c.744C>T (p.Leu248=)
c.906C>T (p.Leu302=)
c.873C>T (p.Leu291=)
n.770C>T
n.438C>T
n.727C>T
c.465C>T (p.Leu155=)
c.756C>T (p.Leu252=)
c.642C>T (p.Leu214=)
 COSMIC
3g.136298002C>ACA2631880PCCBc.814C>A (p.Arg272=)
c.745C>A (p.Arg249=)
c.907C>A (p.Arg303=)
c.874C>A (p.Arg292=)
n.771C>A
n.439C>A
n.728C>A
c.466C>A (p.Arg156=)
c.757C>A (p.Arg253=)
c.643C>A (p.Arg215=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.136298002C=CA1404333614PCCBc.814C= (p.Arg272=)
c.745C= (p.Arg249=)
c.907C= (p.Arg303=)
c.874C= (p.Arg292=)
n.771C=
n.439C=
n.728C=
c.466C= (p.Arg156=)
c.757C= (p.Arg253=)
c.643C= (p.Arg215=)
3g.136298002C>GCA354644629PCCBc.814C>G (p.Arg272Gly)
c.745C>G (p.Arg249Gly)
c.907C>G (p.Arg303Gly)
c.874C>G (p.Arg292Gly)
n.771C>G
n.439C>G
n.728C>G
c.466C>G (p.Arg156Gly)
c.757C>G (p.Arg253Gly)
c.643C>G (p.Arg215Gly)
3g.136298002C>TCA2631879PCCBc.814C>T (p.Arg272Trp)
c.745C>T (p.Arg249Trp)
c.907C>T (p.Arg303Trp)
c.874C>T (p.Arg292Trp)
n.771C>T
n.439C>T
n.728C>T
c.466C>T (p.Arg156Trp)
c.757C>T (p.Arg253Trp)
c.643C>T (p.Arg215Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.136298003G>ACA247546PCCBc.815G>A (p.Arg272Gln)
c.746G>A (p.Arg249Gln)
c.908G>A (p.Arg303Gln)
c.875G>A (p.Arg292Gln)
n.772G>A
n.440G>A
n.729G>A
c.467G>A (p.Arg156Gln)
c.758G>A (p.Arg253Gln)
c.644G>A (p.Arg215Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.136298003G>CCA354644633PCCBc.815G>C (p.Arg272Pro)
c.746G>C (p.Arg249Pro)
c.908G>C (p.Arg303Pro)
c.875G>C (p.Arg292Pro)
n.772G>C
n.440G>C
n.729G>C
c.467G>C (p.Arg156Pro)
c.758G>C (p.Arg253Pro)
c.644G>C (p.Arg215Pro)
3g.136298003G=CA1404333616PCCBc.815G= (p.Arg272=)
c.746G= (p.Arg249=)
c.908G= (p.Arg303=)
c.875G= (p.Arg292=)
n.772G=
n.440G=
n.729G=
c.467G= (p.Arg156=)
c.758G= (p.Arg253=)
c.644G= (p.Arg215=)
3g.136298003G>TCA354644636PCCBc.815G>T (p.Arg272Leu)
c.746G>T (p.Arg249Leu)
c.908G>T (p.Arg303Leu)
c.875G>T (p.Arg292Leu)
n.772G>T
n.440G>T
n.729G>T
c.467G>T (p.Arg156Leu)
c.758G>T (p.Arg253Leu)
c.644G>T (p.Arg215Leu)
3g.136298004G>ACA2631881PCCBc.816G>A (p.Arg272=)
c.747G>A (p.Arg249=)
c.909G>A (p.Arg303=)
c.876G>A (p.Arg292=)
n.773G>A
n.441G>A
n.730G>A
c.468G>A (p.Arg156=)
c.759G>A (p.Arg253=)
c.645G>A (p.Arg215=)
 ClinVar dbSNP ExAC gnomAD v2
3g.136298004G>CCA435839904PCCBc.816G>C (p.Arg272=)
c.747G>C (p.Arg249=)
c.909G>C (p.Arg303=)
c.876G>C (p.Arg292=)
n.773G>C
n.441G>C
n.730G>C
c.468G>C (p.Arg156=)
c.759G>C (p.Arg253=)
c.645G>C (p.Arg215=)
 ClinVar dbSNP
3g.136298004G=CA1404333619PCCBc.816G= (p.Arg272=)
c.747G= (p.Arg249=)
c.909G= (p.Arg303=)
c.876G= (p.Arg292=)
n.773G=
n.441G=
n.730G=
c.468G= (p.Arg156=)
c.759G= (p.Arg253=)
c.645G= (p.Arg215=)
3g.136298004G>TCA435839905PCCBc.816G>T (p.Arg272=)
c.747G>T (p.Arg249=)
c.909G>T (p.Arg303=)
c.876G>T (p.Arg292=)
n.773G>T
n.441G>T
n.730G>T
c.468G>T (p.Arg156=)
c.759G>T (p.Arg253=)
c.645G>T (p.Arg215=)
 ClinVar
3g.136298005G>ACA354644641PCCBc.817G>A (p.Asp273Asn)
c.748G>A (p.Asp250Asn)
c.910G>A (p.Asp304Asn)
c.877G>A (p.Asp293Asn)
n.774G>A
n.442G>A
n.731G>A
c.469G>A (p.Asp157Asn)
c.760G>A (p.Asp254Asn)
c.646G>A (p.Asp216Asn)
3g.136298005G>CCA354644643PCCBc.817G>C (p.Asp273His)
c.748G>C (p.Asp250His)
c.910G>C (p.Asp304His)
c.877G>C (p.Asp293His)
n.774G>C
n.442G>C
n.731G>C
c.469G>C (p.Asp157His)
c.760G>C (p.Asp254His)
c.646G>C (p.Asp216His)
3g.136298005G=CA1404333620PCCBc.817G= (p.Asp273=)
c.748G= (p.Asp250=)
c.910G= (p.Asp304=)
c.877G= (p.Asp293=)
n.774G=
n.442G=
n.731G=
c.469G= (p.Asp157=)
c.760G= (p.Asp254=)
c.646G= (p.Asp216=)
3g.136298005G>TCA354644650PCCBc.817G>T (p.Asp273Tyr)
c.748G>T (p.Asp250Tyr)
c.910G>T (p.Asp304Tyr)
c.877G>T (p.Asp293Tyr)
n.774G>T
n.442G>T
n.731G>T
c.469G>T (p.Asp157Tyr)
c.760G>T (p.Asp254Tyr)
c.646G>T (p.Asp216Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.136298006A=CA1404333621PCCBc.818A= (p.Asp273=)
c.749A= (p.Asp250=)
c.911A= (p.Asp304=)
c.878A= (p.Asp293=)
n.775A=
n.443A=
n.732A=
c.470A= (p.Asp157=)
c.761A= (p.Asp254=)
c.647A= (p.Asp216=)
3g.136298006A>CCA354644654PCCBc.818A>C (p.Asp273Ala)
c.749A>C (p.Asp250Ala)
c.911A>C (p.Asp304Ala)
c.878A>C (p.Asp293Ala)
n.775A>C
n.443A>C
n.732A>C
c.470A>C (p.Asp157Ala)
c.761A>C (p.Asp254Ala)
c.647A>C (p.Asp216Ala)
3g.136298006A>GCA354644652PCCBc.818A>G (p.Asp273Gly)
c.749A>G (p.Asp250Gly)
c.911A>G (p.Asp304Gly)
c.878A>G (p.Asp293Gly)
n.775A>G
n.443A>G
n.732A>G
c.470A>G (p.Asp157Gly)
c.761A>G (p.Asp254Gly)
c.647A>G (p.Asp216Gly)
 gnomAD v4
3g.136298006A>TCA2631882PCCBc.818A>T (p.Asp273Val)
c.749A>T (p.Asp250Val)
c.911A>T (p.Asp304Val)
c.878A>T (p.Asp293Val)
n.775A>T
n.443A>T
n.732A>T
c.470A>T (p.Asp157Val)
c.761A>T (p.Asp254Val)
c.647A>T (p.Asp216Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.136298007T>ACA354644657PCCBc.819T>A (p.Asp273Glu)
c.750T>A (p.Asp250Glu)
c.912T>A (p.Asp304Glu)
c.879T>A (p.Asp293Glu)
n.776T>A
n.444T>A
n.733T>A
c.471T>A (p.Asp157Glu)
c.762T>A (p.Asp254Glu)
c.648T>A (p.Asp216Glu)
3g.136298007T>CCA435839906PCCBc.819T>C (p.Asp273=)
c.750T>C (p.Asp250=)
c.912T>C (p.Asp304=)
c.879T>C (p.Asp293=)
n.776T>C
n.444T>C
n.733T>C
c.471T>C (p.Asp157=)
c.762T>C (p.Asp254=)
c.648T>C (p.Asp216=)
3g.136298007T>GCA354644658PCCBc.819T>G (p.Asp273Glu)
c.750T>G (p.Asp250Glu)
c.912T>G (p.Asp304Glu)
c.879T>G (p.Asp293Glu)
n.776T>G
n.444T>G
n.733T>G
c.471T>G (p.Asp157Glu)
c.762T>G (p.Asp254Glu)
c.648T>G (p.Asp216Glu)
 ClinVar gnomAD v4
3g.136298007_136298031delinsGATTACACGGGCA2580068805PCCBc.819_843delinsGATTACACGGG (p.Asp273GlufsTer13)
c.750_774delinsGATTACACGGG (p.Asp250GlufsTer13)
c.912_936delinsGATTACACGGG (p.Asp304GlufsTer13)
c.879_903delinsGATTACACGGG (p.Asp293GlufsTer13)
n.776_800delinsGATTACACGGG
n.444_468delinsGATTACACGGG
n.733_757delinsGATTACACGGG
c.471_495delinsGATTACACGGG (p.Asp157GlufsTer13)
c.762_786delinsGATTACACGGG (p.Asp254GlufsTer13)
c.648_672delinsGATTACACGGG (p.Asp216GlufsTer13)
 ClinVar
3g.136298008T>ACA354644661PCCBc.820T>A (p.Phe274Ile)
c.751T>A (p.Phe251Ile)
c.913T>A (p.Phe305Ile)
c.880T>A (p.Phe294Ile)
n.777T>A
n.445T>A
n.734T>A
c.472T>A (p.Phe158Ile)
c.763T>A (p.Phe255Ile)
c.649T>A (p.Phe217Ile)
3g.136298008T>CCA354644664PCCBc.820T>C (p.Phe274Leu)
c.751T>C (p.Phe251Leu)
c.913T>C (p.Phe305Leu)
c.880T>C (p.Phe294Leu)
n.777T>C
n.445T>C
n.734T>C
c.472T>C (p.Phe158Leu)
c.763T>C (p.Phe255Leu)
c.649T>C (p.Phe217Leu)
3g.136298008T>GCA354644665PCCBc.820T>G (p.Phe274Val)
c.751T>G (p.Phe251Val)
c.913T>G (p.Phe305Val)
c.880T>G (p.Phe294Val)
n.777T>G
n.445T>G
n.734T>G
c.472T>G (p.Phe158Val)
c.763T>G (p.Phe255Val)
c.649T>G (p.Phe217Val)
3g.136298011_136298013delCA2586972955PCCBc.823_825del (p.Phe275del)
c.754_756del (p.Phe252del)
c.916_918del (p.Phe306del)
c.883_885del (p.Phe295del)
n.780_782del
n.448_450del
n.737_739del
c.475_477del (p.Phe159del)
c.766_768del (p.Phe256del)
c.652_654del (p.Phe218del)
 gnomAD v4
3g.136298009T>ACA2631883PCCBc.821T>A (p.Phe274Tyr)
c.752T>A (p.Phe251Tyr)
c.914T>A (p.Phe305Tyr)
c.881T>A (p.Phe294Tyr)
n.778T>A
n.446T>A
n.735T>A
c.473T>A (p.Phe158Tyr)
c.764T>A (p.Phe255Tyr)
c.650T>A (p.Phe217Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.136298009T>CCA83796543PCCBc.821T>C (p.Phe274Ser)
c.752T>C (p.Phe251Ser)
c.914T>C (p.Phe305Ser)
c.881T>C (p.Phe294Ser)
n.778T>C
n.446T>C
n.735T>C
c.473T>C (p.Phe158Ser)
c.764T>C (p.Phe255Ser)
c.650T>C (p.Phe217Ser)
 ClinVar dbSNP gnomAD v4
3g.136298009T>GCA354644670PCCBc.821T>G (p.Phe274Cys)
c.752T>G (p.Phe251Cys)
c.914T>G (p.Phe305Cys)
c.881T>G (p.Phe294Cys)
n.778T>G
n.446T>G
n.735T>G
c.473T>G (p.Phe158Cys)
c.764T>G (p.Phe255Cys)
c.650T>G (p.Phe217Cys)
 dbSNP
3g.136298009T=CA1404333622PCCBc.821T= (p.Phe274=)
c.752T= (p.Phe251=)
c.914T= (p.Phe305=)
c.881T= (p.Phe294=)
n.778T=
n.446T=
n.735T=
c.473T= (p.Phe158=)
c.764T= (p.Phe255=)
c.650T= (p.Phe217=)
3g.136298010C>ACA354644674PCCBc.822C>A (p.Phe274Leu)
c.753C>A (p.Phe251Leu)
c.915C>A (p.Phe305Leu)
c.882C>A (p.Phe294Leu)
n.779C>A
n.447C>A
n.736C>A
c.474C>A (p.Phe158Leu)
c.765C>A (p.Phe255Leu)
c.651C>A (p.Phe217Leu)
3g.136298010C>GCA354644675PCCBc.822C>G (p.Phe274Leu)
c.753C>G (p.Phe251Leu)
c.915C>G (p.Phe305Leu)
c.882C>G (p.Phe294Leu)
n.779C>G
n.447C>G
n.736C>G
c.474C>G (p.Phe158Leu)
c.765C>G (p.Phe255Leu)
c.651C>G (p.Phe217Leu)
3g.136298010C>TCA435839909PCCBc.822C>T (p.Phe274=)
c.753C>T (p.Phe251=)
c.915C>T (p.Phe305=)
c.882C>T (p.Phe294=)
n.779C>T
n.447C>T
n.736C>T
c.474C>T (p.Phe158=)
c.765C>T (p.Phe255=)
c.651C>T (p.Phe217=)
3g.136298011T>ACA354644678PCCBc.823T>A (p.Phe275Ile)
c.754T>A (p.Phe252Ile)
c.916T>A (p.Phe306Ile)
c.883T>A (p.Phe295Ile)
n.780T>A
n.448T>A
n.737T>A
c.475T>A (p.Phe159Ile)
c.766T>A (p.Phe256Ile)
c.652T>A (p.Phe218Ile)
3g.136298011T>CCA354644680PCCBc.823T>C (p.Phe275Leu)
c.754T>C (p.Phe252Leu)
c.916T>C (p.Phe306Leu)
c.883T>C (p.Phe295Leu)
n.780T>C
n.448T>C
n.737T>C
c.475T>C (p.Phe159Leu)
c.766T>C (p.Phe256Leu)
c.652T>C (p.Phe218Leu)
3g.136298011T>GCA354644683PCCBc.823T>G (p.Phe275Val)
c.754T>G (p.Phe252Val)
c.916T>G (p.Phe306Val)
c.883T>G (p.Phe295Val)
n.780T>G
n.448T>G
n.737T>G
c.475T>G (p.Phe159Val)
c.766T>G (p.Phe256Val)
c.652T>G (p.Phe218Val)
3g.136298011_136298012insCCA83796545PCCBc.823_824insC (p.Phe275SerfsTer16)
c.754_755insC (p.Phe252SerfsTer16)
c.916_917insC (p.Phe306SerfsTer16)
c.883_884insC (p.Phe295SerfsTer16)
n.780_781insC
n.448_449insC
n.737_738insC
c.475_476insC (p.Phe159SerfsTer16)
c.766_767insC (p.Phe256SerfsTer16)
c.652_653insC (p.Phe218SerfsTer16)
3g.136298012T>ACA354644693PCCBc.824T>A (p.Phe275Tyr)
c.755T>A (p.Phe252Tyr)
c.917T>A (p.Phe306Tyr)
c.884T>A (p.Phe295Tyr)
n.781T>A
n.449T>A
n.738T>A
c.476T>A (p.Phe159Tyr)
c.767T>A (p.Phe256Tyr)
c.653T>A (p.Phe218Tyr)
3g.136298012T>CCA354644686PCCBc.824T>C (p.Phe275Ser)
c.755T>C (p.Phe252Ser)
c.917T>C (p.Phe306Ser)
c.884T>C (p.Phe295Ser)
n.781T>C
n.449T>C
n.738T>C
c.476T>C (p.Phe159Ser)
c.767T>C (p.Phe256Ser)
c.653T>C (p.Phe218Ser)
3g.136298012T>GCA354644690PCCBc.824T>G (p.Phe275Cys)
c.755T>G (p.Phe252Cys)
c.917T>G (p.Phe306Cys)
c.884T>G (p.Phe295Cys)
n.781T>G
n.449T>G
n.738T>G
c.476T>G (p.Phe159Cys)
c.767T>G (p.Phe256Cys)
c.653T>G (p.Phe218Cys)
3g.136298012T=CA1404333624PCCBc.824T= (p.Phe275=)
c.755T= (p.Phe252=)
c.917T= (p.Phe306=)
c.884T= (p.Phe295=)
n.781T=
n.449T=
n.738T=
c.476T= (p.Phe159=)
c.767T= (p.Phe256=)
c.653T= (p.Phe218=)
3g.136298013C>ACA354644697PCCBc.825C>A (p.Phe275Leu)
c.756C>A (p.Phe252Leu)
c.918C>A (p.Phe306Leu)
c.885C>A (p.Phe295Leu)
n.782C>A
n.450C>A
n.739C>A
c.477C>A (p.Phe159Leu)
c.768C>A (p.Phe256Leu)
c.654C>A (p.Phe218Leu)
3g.136298013C>GCA354644700PCCBc.825C>G (p.Phe275Leu)
c.756C>G (p.Phe252Leu)
c.918C>G (p.Phe306Leu)
c.885C>G (p.Phe295Leu)
n.782C>G
n.450C>G
n.739C>G
c.477C>G (p.Phe159Leu)
c.768C>G (p.Phe256Leu)
c.654C>G (p.Phe218Leu)
3g.136298013C>TCA435839911PCCBc.825C>T (p.Phe275=)
c.756C>T (p.Phe252=)
c.918C>T (p.Phe306=)
c.885C>T (p.Phe295=)
n.782C>T
n.450C>T
n.739C>T
c.477C>T (p.Phe159=)
c.768C>T (p.Phe256=)
c.654C>T (p.Phe218=)
3g.136298013dupCA2631884PCCBc.825dup (p.Asn276GlnfsTer15)
c.756dup (p.Asn253GlnfsTer15)
c.918dup (p.Asn307GlnfsTer15)
c.885dup (p.Asn296GlnfsTer15)
n.782dup
n.450dup
n.739dup
c.477dup (p.Asn160GlnfsTer15)
c.768dup (p.Asn257GlnfsTer15)
c.654dup (p.Asn219GlnfsTer15)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.136298014A>CCA354644703PCCBc.826A>C (p.Asn276His)
c.757A>C (p.Asn253His)
c.919A>C (p.Asn307His)
c.886A>C (p.Asn296His)
n.783A>C
n.451A>C
n.740A>C
c.478A>C (p.Asn160His)
c.769A>C (p.Asn257His)
c.655A>C (p.Asn219His)
3g.136298014A>GCA354644706PCCBc.826A>G (p.Asn276Asp)
c.757A>G (p.Asn253Asp)
c.919A>G (p.Asn307Asp)
c.886A>G (p.Asn296Asp)
n.783A>G
n.451A>G
n.740A>G
c.478A>G (p.Asn160Asp)
c.769A>G (p.Asn257Asp)
c.655A>G (p.Asn219Asp)
3g.136298014A>TCA354644708PCCBc.826A>T (p.Asn276Tyr)
c.757A>T (p.Asn253Tyr)
c.919A>T (p.Asn307Tyr)
c.886A>T (p.Asn296Tyr)
n.783A>T
n.451A>T
n.740A>T
c.478A>T (p.Asn160Tyr)
c.769A>T (p.Asn257Tyr)
c.655A>T (p.Asn219Tyr)
3g.136298015A=CA1404333629PCCBc.827A= (p.Asn276=)
c.758A= (p.Asn253=)
c.920A= (p.Asn307=)
c.887A= (p.Asn296=)
n.784A=
n.452A=
n.741A=
c.479A= (p.Asn160=)
c.770A= (p.Asn257=)
c.656A= (p.Asn219=)
3g.136298015A>CCA354644711PCCBc.827A>C (p.Asn276Thr)
c.758A>C (p.Asn253Thr)
c.920A>C (p.Asn307Thr)
c.887A>C (p.Asn296Thr)
n.784A>C
n.452A>C
n.741A>C
c.479A>C (p.Asn160Thr)
c.770A>C (p.Asn257Thr)
c.656A>C (p.Asn219Thr)
 dbSNP
3g.136298015A>GCA2631885PCCBc.827A>G (p.Asn276Ser)
c.758A>G (p.Asn253Ser)
c.920A>G (p.Asn307Ser)
c.887A>G (p.Asn296Ser)
n.784A>G
n.452A>G
n.741A>G
c.479A>G (p.Asn160Ser)
c.770A>G (p.Asn257Ser)
c.656A>G (p.Asn219Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.136298015A>TCA354644714PCCBc.827A>T (p.Asn276Ile)
c.758A>T (p.Asn253Ile)
c.920A>T (p.Asn307Ile)
c.887A>T (p.Asn296Ile)
n.784A>T
n.452A>T
n.741A>T
c.479A>T (p.Asn160Ile)
c.770A>T (p.Asn257Ile)
c.656A>T (p.Asn219Ile)
3g.136298016C>ACA354644718PCCBc.828C>A (p.Asn276Lys)
c.759C>A (p.Asn253Lys)
c.921C>A (p.Asn307Lys)
c.888C>A (p.Asn296Lys)
n.785C>A
n.453C>A
n.742C>A
c.480C>A (p.Asn160Lys)
c.771C>A (p.Asn257Lys)
c.657C>A (p.Asn219Lys)
 gnomAD v4
3g.136298016C>GCA354644720PCCBc.828C>G (p.Asn276Lys)
c.759C>G (p.Asn253Lys)
c.921C>G (p.Asn307Lys)
c.888C>G (p.Asn296Lys)
n.785C>G
n.453C>G
n.742C>G
c.480C>G (p.Asn160Lys)
c.771C>G (p.Asn257Lys)
c.657C>G (p.Asn219Lys)
3g.136298016C>TCA435839913PCCBc.828C>T (p.Asn276=)
c.759C>T (p.Asn253=)
c.921C>T (p.Asn307=)
c.888C>T (p.Asn296=)
n.785C>T
n.453C>T
n.742C>T
c.480C>T (p.Asn160=)
c.771C>T (p.Asn257=)
c.657C>T (p.Asn219=)
 ClinVar
3g.136298016_136298017delinsCTCA1404333631PCCBc.828_829delinsCT (p.Asn276=)
c.759_760delinsCT (p.Asn253=)
c.921_922delinsCT (p.Asn307=)
c.888_889delinsCT (p.Asn296=)
n.785_786delinsCT
n.453_454delinsCT
n.742_743delinsCT
c.480_481delinsCT (p.Asn160=)
c.771_772delinsCT (p.Asn257=)
c.657_658delinsCT (p.Asn219=)
3g.136298017delCA546471856PCCBc.829del (p.Tyr277ThrfsTer4)
c.760del (p.Tyr254ThrfsTer4)
c.922del (p.Tyr308ThrfsTer4)
c.889del (p.Tyr297ThrfsTer4)
n.786del
n.454del
n.743del
c.481del (p.Tyr161ThrfsTer4)
c.772del (p.Tyr258ThrfsTer4)
c.658del (p.Tyr220ThrfsTer4)
 dbSNP gnomAD v2 gnomAD v4
3g.136298017T>ACA354644722PCCBc.829T>A (p.Tyr277Asn)
c.760T>A (p.Tyr254Asn)
c.922T>A (p.Tyr308Asn)
c.889T>A (p.Tyr297Asn)
n.786T>A
n.454T>A
n.743T>A
c.481T>A (p.Tyr161Asn)
c.772T>A (p.Tyr258Asn)
c.658T>A (p.Tyr220Asn)
3g.136298017T>CCA354644723PCCBc.829T>C (p.Tyr277His)
c.760T>C (p.Tyr254His)
c.922T>C (p.Tyr308His)
c.889T>C (p.Tyr297His)
n.786T>C
n.454T>C
n.743T>C
c.481T>C (p.Tyr161His)
c.772T>C (p.Tyr258His)
c.658T>C (p.Tyr220His)
 dbSNP gnomAD v3 gnomAD v4
3g.136298017T>GCA354644724PCCBc.829T>G (p.Tyr277Asp)
c.760T>G (p.Tyr254Asp)
c.922T>G (p.Tyr308Asp)
c.889T>G (p.Tyr297Asp)
n.786T>G
n.454T>G
n.743T>G
c.481T>G (p.Tyr161Asp)
c.772T>G (p.Tyr258Asp)
c.658T>G (p.Tyr220Asp)
3g.136298017T=CA1404333633PCCBc.829T= (p.Tyr277=)
c.760T= (p.Tyr254=)
c.922T= (p.Tyr308=)
c.889T= (p.Tyr297=)
n.786T=
n.454T=
n.743T=
c.481T= (p.Tyr161=)
c.772T= (p.Tyr258=)
c.658T= (p.Tyr220=)
3g.136298018A>CCA354644727PCCBc.830A>C (p.Tyr277Ser)
c.761A>C (p.Tyr254Ser)
c.923A>C (p.Tyr308Ser)
c.890A>C (p.Tyr297Ser)
n.787A>C
n.455A>C
n.744A>C
c.482A>C (p.Tyr161Ser)
c.773A>C (p.Tyr258Ser)
c.659A>C (p.Tyr220Ser)
3g.136298018A>GCA354644726PCCBc.830A>G (p.Tyr277Cys)
c.761A>G (p.Tyr254Cys)
c.923A>G (p.Tyr308Cys)
c.890A>G (p.Tyr297Cys)
n.787A>G
n.455A>G
n.744A>G
c.482A>G (p.Tyr161Cys)
c.773A>G (p.Tyr258Cys)
c.659A>G (p.Tyr220Cys)
 ClinVar gnomAD v4
3g.136298018A>TCA354644725PCCBc.830A>T (p.Tyr277Phe)
c.761A>T (p.Tyr254Phe)
c.923A>T (p.Tyr308Phe)
c.890A>T (p.Tyr297Phe)
n.787A>T
n.455A>T
n.744A>T
c.482A>T (p.Tyr161Phe)
c.773A>T (p.Tyr258Phe)
c.659A>T (p.Tyr220Phe)
 ClinVar dbSNP
3g.136298019C>ACA354644728PCCBc.831C>A (p.Tyr277Ter)
c.762C>A (p.Tyr254Ter)
c.924C>A (p.Tyr308Ter)
c.891C>A (p.Tyr297Ter)
n.788C>A
n.456C>A
n.745C>A
c.483C>A (p.Tyr161Ter)
c.774C>A (p.Tyr258Ter)
c.660C>A (p.Tyr220Ter)
3g.136298019C>GCA354644730PCCBc.831C>G (p.Tyr277Ter)
c.762C>G (p.Tyr254Ter)
c.924C>G (p.Tyr308Ter)
c.891C>G (p.Tyr297Ter)
n.788C>G
n.456C>G
n.745C>G
c.483C>G (p.Tyr161Ter)
c.774C>G (p.Tyr258Ter)
c.660C>G (p.Tyr220Ter)
3g.136298019C>TCA435839917PCCBc.831C>T (p.Tyr277=)
c.762C>T (p.Tyr254=)
c.924C>T (p.Tyr308=)
c.891C>T (p.Tyr297=)
n.788C>T
n.456C>T
n.745C>T
c.483C>T (p.Tyr161=)
c.774C>T (p.Tyr258=)
c.660C>T (p.Tyr220=)
3g.136298020C>ACA354644731PCCBc.832C>A (p.Leu278Met)
c.763C>A (p.Leu255Met)
c.925C>A (p.Leu309Met)
c.892C>A (p.Leu298Met)
n.789C>A
n.457C>A
n.746C>A
c.484C>A (p.Leu162Met)
c.775C>A (p.Leu259Met)
c.661C>A (p.Leu221Met)
 dbSNP gnomAD v2 gnomAD v4
3g.136298020C=CA1404333636PCCBc.832C= (p.Leu278=)
c.763C= (p.Leu255=)
c.925C= (p.Leu309=)
c.892C= (p.Leu298=)
n.789C=
n.457C=
n.746C=
c.484C= (p.Leu162=)
c.775C= (p.Leu259=)
c.661C= (p.Leu221=)
3g.136298020C>GCA354644734PCCBc.832C>G (p.Leu278Val)
c.763C>G (p.Leu255Val)
c.925C>G (p.Leu309Val)
c.892C>G (p.Leu298Val)
n.789C>G
n.457C>G
n.746C>G
c.484C>G (p.Leu162Val)
c.775C>G (p.Leu259Val)
c.661C>G (p.Leu221Val)
3g.136298020C>TCA435839919PCCBc.832C>T (p.Leu278=)
c.763C>T (p.Leu255=)
c.925C>T (p.Leu309=)
c.892C>T (p.Leu298=)
n.789C>T
n.457C>T
n.746C>T
c.484C>T (p.Leu162=)
c.775C>T (p.Leu259=)
c.661C>T (p.Leu221=)
 gnomAD v4
3g.136298021T>ACA354644735PCCBc.833T>A (p.Leu278Gln)
c.764T>A (p.Leu255Gln)
c.926T>A (p.Leu309Gln)
c.893T>A (p.Leu298Gln)
n.790T>A
n.458T>A
n.747T>A
c.485T>A (p.Leu162Gln)
c.776T>A (p.Leu259Gln)
c.662T>A (p.Leu221Gln)
3g.136298021T>CCA354644738PCCBc.833T>C (p.Leu278Pro)
c.764T>C (p.Leu255Pro)
c.926T>C (p.Leu309Pro)
c.893T>C (p.Leu298Pro)
n.790T>C
n.458T>C
n.747T>C
c.485T>C (p.Leu162Pro)
c.776T>C (p.Leu259Pro)
c.662T>C (p.Leu221Pro)
3g.136298021T>GCA354644741PCCBc.833T>G (p.Leu278Arg)
c.764T>G (p.Leu255Arg)
c.926T>G (p.Leu309Arg)
c.893T>G (p.Leu298Arg)
n.790T>G
n.458T>G
n.747T>G
c.485T>G (p.Leu162Arg)
c.776T>G (p.Leu259Arg)
c.662T>G (p.Leu221Arg)
3g.136298022G>ACA435839920PCCBc.834G>A (p.Leu278=)
c.765G>A (p.Leu255=)
c.927G>A (p.Leu309=)
c.894G>A (p.Leu298=)
n.791G>A
n.459G>A
n.748G>A
c.486G>A (p.Leu162=)
c.777G>A (p.Leu259=)
c.663G>A (p.Leu221=)
3g.136298022G>CCA435839921PCCBc.834G>C (p.Leu278=)
c.765G>C (p.Leu255=)
c.927G>C (p.Leu309=)
c.894G>C (p.Leu298=)
n.791G>C
n.459G>C
n.748G>C
c.486G>C (p.Leu162=)
c.777G>C (p.Leu259=)
c.663G>C (p.Leu221=)
3g.136298022G=CA1404333639PCCBc.834G= (p.Leu278=)
c.765G= (p.Leu255=)
c.927G= (p.Leu309=)
c.894G= (p.Leu298=)
n.791G=
n.459G=
n.748G=
c.486G= (p.Leu162=)
c.777G= (p.Leu259=)
c.663G= (p.Leu221=)
3g.136298022G>TCA435839922PCCBc.834G>T (p.Leu278=)
c.765G>T (p.Leu255=)
c.927G>T (p.Leu309=)
c.894G>T (p.Leu298=)
n.791G>T
n.459G>T
n.748G>T
c.486G>T (p.Leu162=)
c.777G>T (p.Leu259=)
c.663G>T (p.Leu221=)
 dbSNP
3g.136298022dupCA913102139PCCBc.834dup (p.Pro279AlafsTer12)
c.765dup (p.Pro256AlafsTer12)
c.927dup (p.Pro310AlafsTer12)
c.894dup (p.Pro299AlafsTer12)
n.791dup
n.459dup
n.748dup
c.486dup (p.Pro163AlafsTer12)
c.777dup (p.Pro260AlafsTer12)
c.663dup (p.Pro222AlafsTer12)
3g.136298023C>ACA354644748PCCBc.835C>A (p.Pro279Thr)
c.766C>A (p.Pro256Thr)
c.928C>A (p.Pro310Thr)
c.895C>A (p.Pro299Thr)
n.792C>A
n.460C>A
n.749C>A
c.487C>A (p.Pro163Thr)
c.778C>A (p.Pro260Thr)
c.664C>A (p.Pro222Thr)
3g.136298023C>GCA354644751PCCBc.835C>G (p.Pro279Ala)
c.766C>G (p.Pro256Ala)
c.928C>G (p.Pro310Ala)
c.895C>G (p.Pro299Ala)
n.792C>G
n.460C>G
n.749C>G
c.487C>G (p.Pro163Ala)
c.778C>G (p.Pro260Ala)
c.664C>G (p.Pro222Ala)
3g.136298023C>TCA354644756PCCBc.835C>T (p.Pro279Ser)
c.766C>T (p.Pro256Ser)
c.928C>T (p.Pro310Ser)
c.895C>T (p.Pro299Ser)
n.792C>T
n.460C>T
n.749C>T
c.487C>T (p.Pro163Ser)
c.778C>T (p.Pro260Ser)
c.664C>T (p.Pro222Ser)
 ClinVar
3g.136298026dupCA2631886PCCBc.838dup (p.Leu280ProfsTer11)
c.769dup (p.Leu257ProfsTer11)
c.931dup (p.Leu311ProfsTer11)
c.898dup (p.Leu300ProfsTer11)
n.795dup
n.463dup
n.752dup
c.490dup (p.Leu164ProfsTer11)
c.781dup (p.Leu261ProfsTer11)
c.667dup (p.Leu223ProfsTer11)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.136298025_136298026dupCA2631887PCCBc.837_838dup (p.Leu280ProfsTer2)
c.768_769dup (p.Leu257ProfsTer2)
c.930_931dup (p.Leu311ProfsTer2)
c.897_898dup (p.Leu300ProfsTer2)
n.794_795dup
n.462_463dup
n.751_752dup
c.489_490dup (p.Leu164ProfsTer2)
c.780_781dup (p.Leu261ProfsTer2)
c.666_667dup (p.Leu223ProfsTer2)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.136298024C>ACA354644759PCCBc.836C>A (p.Pro279His)
c.767C>A (p.Pro256His)
c.929C>A (p.Pro310His)
c.896C>A (p.Pro299His)
n.793C>A
n.461C>A
n.750C>A
c.488C>A (p.Pro163His)
c.779C>A (p.Pro260His)
c.665C>A (p.Pro222His)
3g.136298024C=CA1404333648PCCBc.836C= (p.Pro279=)
c.767C= (p.Pro256=)
c.929C= (p.Pro310=)
c.896C= (p.Pro299=)
n.793C=
n.461C=
n.750C=
c.488C= (p.Pro163=)
c.779C= (p.Pro260=)
c.665C= (p.Pro222=)
3g.136298024C>GCA354644761PCCBc.836C>G (p.Pro279Arg)
c.767C>G (p.Pro256Arg)
c.929C>G (p.Pro310Arg)
c.896C>G (p.Pro299Arg)
n.793C>G
n.461C>G
n.750C>G
c.488C>G (p.Pro163Arg)
c.779C>G (p.Pro260Arg)
c.665C>G (p.Pro222Arg)
 ClinVar dbSNP gnomAD v4
3g.136298024C>TCA2631888PCCBc.836C>T (p.Pro279Leu)
c.767C>T (p.Pro256Leu)
c.929C>T (p.Pro310Leu)
c.896C>T (p.Pro299Leu)
n.793C>T
n.461C>T
n.750C>T
c.488C>T (p.Pro163Leu)
c.779C>T (p.Pro260Leu)
c.665C>T (p.Pro222Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.136298025C>ACA435839923PCCBc.837C>A (p.Pro279=)
c.768C>A (p.Pro256=)
c.930C>A (p.Pro310=)
c.897C>A (p.Pro299=)
n.794C>A
n.462C>A
n.751C>A
c.489C>A (p.Pro163=)
c.780C>A (p.Pro260=)
c.666C>A (p.Pro222=)
3g.136298025C=CA1404333649PCCBc.837C= (p.Pro279=)
c.768C= (p.Pro256=)
c.930C= (p.Pro310=)
c.897C= (p.Pro299=)
n.794C=
n.462C=
n.751C=
c.489C= (p.Pro163=)
c.780C= (p.Pro260=)
c.666C= (p.Pro222=)
3g.136298025C>GCA435839925PCCBc.837C>G (p.Pro279=)
c.768C>G (p.Pro256=)
c.930C>G (p.Pro310=)
c.897C>G (p.Pro299=)
n.794C>G
n.462C>G
n.751C>G
c.489C>G (p.Pro163=)
c.780C>G (p.Pro260=)
c.666C>G (p.Pro222=)
 ClinVar gnomAD v4
3g.136298025C>TCA435839926PCCBc.837C>T (p.Pro279=)
c.768C>T (p.Pro256=)
c.930C>T (p.Pro310=)
c.897C>T (p.Pro299=)
n.794C>T
n.462C>T
n.751C>T
c.489C>T (p.Pro163=)
c.780C>T (p.Pro260=)
c.666C>T (p.Pro222=)
 dbSNP gnomAD v4
3g.136298026C>ACA354644764PCCBc.838C>A (p.Leu280Met)
c.769C>A (p.Leu257Met)
c.931C>A (p.Leu311Met)
c.898C>A (p.Leu300Met)
n.795C>A
n.463C>A
n.752C>A
c.490C>A (p.Leu164Met)
c.781C>A (p.Leu261Met)
c.667C>A (p.Leu223Met)
 COSMIC
3g.136298026C>GCA354644765PCCBc.838C>G (p.Leu280Val)
c.769C>G (p.Leu257Val)
c.931C>G (p.Leu311Val)
c.898C>G (p.Leu300Val)
n.795C>G
n.463C>G
n.752C>G
c.490C>G (p.Leu164Val)
c.781C>G (p.Leu261Val)
c.667C>G (p.Leu223Val)
3g.136298026C>TCA435839927PCCBc.838C>T (p.Leu280=)
c.769C>T (p.Leu257=)
c.931C>T (p.Leu311=)
c.898C>T (p.Leu300=)
n.795C>T
n.463C>T
n.752C>T
c.490C>T (p.Leu164=)
c.781C>T (p.Leu261=)
c.667C>T (p.Leu223=)
3g.136298026_136298027delinsCTCA1404333651PCCBc.838_839delinsCT (p.Leu280=)
c.769_770delinsCT (p.Leu257=)
c.931_932delinsCT (p.Leu311=)
c.898_899delinsCT (p.Leu300=)
n.795_796delinsCT
n.463_464delinsCT
n.752_753delinsCT
c.490_491delinsCT (p.Leu164=)
c.781_782delinsCT (p.Leu261=)
c.667_668delinsCT (p.Leu223=)
3g.136298027delCA915941586PCCBc.839del (p.Leu280ArgfsTer?)
c.770del (p.Leu257ArgfsTer?)
c.932del (p.Leu311ArgfsTer?)
c.899del (p.Leu300ArgfsTer?)
n.796del
n.464del
n.753del
c.491del (p.Leu164ArgfsTer?)
c.782del (p.Leu261ArgfsTer?)
c.668del (p.Leu223ArgfsTer?)
 ClinVar dbSNP
3g.136298027T>ACA354644769PCCBc.839T>A (p.Leu280Gln)
c.770T>A (p.Leu257Gln)
c.932T>A (p.Leu311Gln)
c.899T>A (p.Leu300Gln)
n.796T>A
n.464T>A
n.753T>A
c.491T>A (p.Leu164Gln)
c.782T>A (p.Leu261Gln)
c.668T>A (p.Leu223Gln)
3g.136298027T>CCA354644771PCCBc.839T>C (p.Leu280Pro)
c.770T>C (p.Leu257Pro)
c.932T>C (p.Leu311Pro)
c.899T>C (p.Leu300Pro)
n.796T>C
n.464T>C
n.753T>C
c.491T>C (p.Leu164Pro)
c.782T>C (p.Leu261Pro)
c.668T>C (p.Leu223Pro)
3g.136298027T>GCA354644774PCCBc.839T>G (p.Leu280Arg)
c.770T>G (p.Leu257Arg)
c.932T>G (p.Leu311Arg)
c.899T>G (p.Leu300Arg)
n.796T>G
n.464T>G
n.753T>G
c.491T>G (p.Leu164Arg)
c.782T>G (p.Leu261Arg)
c.668T>G (p.Leu223Arg)
3g.136298028G>ACA435839929PCCBc.840G>A (p.Leu280=)
c.771G>A (p.Leu257=)
c.933G>A (p.Leu311=)
c.900G>A (p.Leu300=)
n.797G>A
n.465G>A
n.754G>A
c.492G>A (p.Leu164=)
c.783G>A (p.Leu261=)
c.669G>A (p.Leu223=)
 ClinVar dbSNP gnomAD v4
3g.136298028G>CCA435839930PCCBc.840G>C (p.Leu280=)
c.771G>C (p.Leu257=)
c.933G>C (p.Leu311=)
c.900G>C (p.Leu300=)
n.797G>C
n.465G>C
n.754G>C
c.492G>C (p.Leu164=)
c.783G>C (p.Leu261=)
c.669G>C (p.Leu223=)
3g.136298028G=CA1404333658PCCBc.840G= (p.Leu280=)
c.771G= (p.Leu257=)
c.933G= (p.Leu311=)
c.900G= (p.Leu300=)
n.797G=
n.465G=
n.754G=
c.492G= (p.Leu164=)
c.783G= (p.Leu261=)
c.669G= (p.Leu223=)
3g.136298028G>TCA435839928PCCBc.840G>T (p.Leu280=)
c.771G>T (p.Leu257=)
c.933G>T (p.Leu311=)
c.900G>T (p.Leu300=)
n.797G>T
n.465G>T
n.754G>T
c.492G>T (p.Leu164=)
c.783G>T (p.Leu261=)
c.669G>T (p.Leu223=)
3g.136298029A>CCA354644777PCCBc.841A>C (p.Ser281Arg)
c.772A>C (p.Ser258Arg)
c.934A>C (p.Ser312Arg)
c.901A>C (p.Ser301Arg)
n.798A>C
n.466A>C
n.755A>C
c.493A>C (p.Ser165Arg)
c.784A>C (p.Ser262Arg)
c.670A>C (p.Ser224Arg)
3g.136298029A>GCA354644779PCCBc.841A>G (p.Ser281Gly)
c.772A>G (p.Ser258Gly)
c.934A>G (p.Ser312Gly)
c.901A>G (p.Ser301Gly)
n.798A>G
n.466A>G
n.755A>G
c.493A>G (p.Ser165Gly)
c.784A>G (p.Ser262Gly)
c.670A>G (p.Ser224Gly)
3g.136298029A>TCA354644781PCCBc.841A>T (p.Ser281Cys)
c.772A>T (p.Ser258Cys)
c.934A>T (p.Ser312Cys)
c.901A>T (p.Ser301Cys)
n.798A>T
n.466A>T
n.755A>T
c.493A>T (p.Ser165Cys)
c.784A>T (p.Ser262Cys)
c.670A>T (p.Ser224Cys)
3g.136298030G>ACA2631889PCCBc.842G>A (p.Ser281Asn)
c.773G>A (p.Ser258Asn)
c.935G>A (p.Ser312Asn)
c.902G>A (p.Ser301Asn)
n.799G>A
n.467G>A
n.756G>A
c.494G>A (p.Ser165Asn)
c.785G>A (p.Ser262Asn)
c.671G>A (p.Ser224Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.136298030G>CCA354644785PCCBc.842G>C (p.Ser281Thr)
c.773G>C (p.Ser258Thr)
c.935G>C (p.Ser312Thr)
c.902G>C (p.Ser301Thr)
n.799G>C
n.467G>C
n.756G>C
c.494G>C (p.Ser165Thr)
c.785G>C (p.Ser262Thr)
c.671G>C (p.Ser224Thr)
3g.136298030G=CA1404333662PCCBc.842G= (p.Ser281=)
c.773G= (p.Ser258=)
c.935G= (p.Ser312=)
c.902G= (p.Ser301=)
n.799G=
n.467G=
n.756G=
c.494G= (p.Ser165=)
c.785G= (p.Ser262=)
c.671G= (p.Ser224=)
3g.136298030G>TCA354644787PCCBc.842G>T (p.Ser281Ile)
c.773G>T (p.Ser258Ile)
c.935G>T (p.Ser312Ile)
c.902G>T (p.Ser301Ile)
n.799G>T
n.467G>T
n.756G>T
c.494G>T (p.Ser165Ile)
c.785G>T (p.Ser262Ile)
c.671G>T (p.Ser224Ile)
3g.136298031C>ACA354644791PCCBc.843C>A (p.Ser281Arg)
c.774C>A (p.Ser258Arg)
c.936C>A (p.Ser312Arg)
c.903C>A (p.Ser301Arg)
n.800C>A
n.468C>A
n.757C>A
c.495C>A (p.Ser165Arg)
c.786C>A (p.Ser262Arg)
c.672C>A (p.Ser224Arg)
3g.136298031C=CA1404333667PCCBc.843C= (p.Ser281=)
c.774C= (p.Ser258=)
c.936C= (p.Ser312=)
c.903C= (p.Ser301=)
n.800C=
n.468C=
n.757C=
c.495C= (p.Ser165=)
c.786C= (p.Ser262=)
c.672C= (p.Ser224=)
3g.136298031C>GCA2631890PCCBc.843C>G (p.Ser281Arg)
c.774C>G (p.Ser258Arg)
c.936C>G (p.Ser312Arg)
c.903C>G (p.Ser301Arg)
n.800C>G
n.468C>G
n.757C>G
c.495C>G (p.Ser165Arg)
c.786C>G (p.Ser262Arg)
c.672C>G (p.Ser224Arg)
 dbSNP ExAC gnomAD v2
3g.136298031C>TCA435839933PCCBc.843C>T (p.Ser281=)
c.774C>T (p.Ser258=)
c.936C>T (p.Ser312=)
c.903C>T (p.Ser301=)
n.800C>T
n.468C>T
n.757C>T
c.495C>T (p.Ser165=)
c.786C>T (p.Ser262=)
c.672C>T (p.Ser224=)
3g.136298032A>CCA354644801PCCBc.844A>C (p.Ser282Arg)
c.775A>C (p.Ser259Arg)
c.937A>C (p.Ser313Arg)
c.904A>C (p.Ser302Arg)
n.801A>C
n.469A>C
n.758A>C
c.496A>C (p.Ser166Arg)
c.787A>C (p.Ser263Arg)
c.673A>C (p.Ser225Arg)
3g.136298032A>GCA354644799PCCBc.844A>G (p.Ser282Gly)
c.775A>G (p.Ser259Gly)
c.937A>G (p.Ser313Gly)
c.904A>G (p.Ser302Gly)
n.801A>G
n.469A>G
n.758A>G
c.496A>G (p.Ser166Gly)
c.787A>G (p.Ser263Gly)
c.673A>G (p.Ser225Gly)
3g.136298032A>TCA354644796PCCBc.844A>T (p.Ser282Cys)
c.775A>T (p.Ser259Cys)
c.937A>T (p.Ser313Cys)
c.904A>T (p.Ser302Cys)
n.801A>T
n.469A>T
n.758A>T
c.496A>T (p.Ser166Cys)
c.787A>T (p.Ser263Cys)
c.673A>T (p.Ser225Cys)
3g.136298033G>ACA354644804PCCBc.845G>A (p.Ser282Asn)
c.776G>A (p.Ser259Asn)
c.938G>A (p.Ser313Asn)
c.905G>A (p.Ser302Asn)
n.802G>A
n.470G>A
n.759G>A
c.497G>A (p.Ser166Asn)
c.788G>A (p.Ser263Asn)
c.674G>A (p.Ser225Asn)
3g.136298033G>CCA354644806PCCBc.845G>C (p.Ser282Thr)
c.776G>C (p.Ser259Thr)
c.938G>C (p.Ser313Thr)
c.905G>C (p.Ser302Thr)
n.802G>C
n.470G>C
n.759G>C
c.497G>C (p.Ser166Thr)
c.788G>C (p.Ser263Thr)
c.674G>C (p.Ser225Thr)
3g.136298033G>TCA354644808PCCBc.845G>T (p.Ser282Ile)
c.776G>T (p.Ser259Ile)
c.938G>T (p.Ser313Ile)
c.905G>T (p.Ser302Ile)
n.802G>T
n.470G>T
n.759G>T
c.497G>T (p.Ser166Ile)
c.788G>T (p.Ser263Ile)
c.674G>T (p.Ser225Ile)
 gnomAD v4
3g.136298034T>ACA354644811PCCBc.846T>A (p.Ser282Arg)
c.777T>A (p.Ser259Arg)
c.939T>A (p.Ser313Arg)
c.906T>A (p.Ser302Arg)
n.803T>A
n.471T>A
n.760T>A
c.498T>A (p.Ser166Arg)
c.789T>A (p.Ser263Arg)
c.675T>A (p.Ser225Arg)
3g.136298034T>CCA435839938PCCBc.846T>C (p.Ser282=)
c.777T>C (p.Ser259=)
c.939T>C (p.Ser313=)
c.906T>C (p.Ser302=)
n.803T>C
n.471T>C
n.760T>C
c.498T>C (p.Ser166=)
c.789T>C (p.Ser263=)
c.675T>C (p.Ser225=)
 gnomAD v4
3g.136298034T>GCA354644813PCCBc.846T>G (p.Ser282Arg)
c.777T>G (p.Ser259Arg)
c.939T>G (p.Ser313Arg)
c.906T>G (p.Ser302Arg)
n.803T>G
n.471T>G
n.760T>G
c.498T>G (p.Ser166Arg)
c.789T>G (p.Ser263Arg)
c.675T>G (p.Ser225Arg)
3g.136298035C>ACA354644816PCCBc.847C>A (p.Gln283Lys)
c.778C>A (p.Gln260Lys)
c.940C>A (p.Gln314Lys)
c.907C>A (p.Gln303Lys)
n.804C>A
n.472C>A
n.761C>A
c.499C>A (p.Gln167Lys)
c.790C>A (p.Gln264Lys)
c.676C>A (p.Gln226Lys)
3g.136298035C=CA1404333670PCCBc.847C= (p.Gln283=)
c.778C= (p.Gln260=)
c.940C= (p.Gln314=)
c.907C= (p.Gln303=)
n.804C=
n.472C=
n.761C=
c.499C= (p.Gln167=)
c.790C= (p.Gln264=)
c.676C= (p.Gln226=)
3g.136298035C>GCA354644819PCCBc.847C>G (p.Gln283Glu)
c.778C>G (p.Gln260Glu)
c.940C>G (p.Gln314Glu)
c.907C>G (p.Gln303Glu)
n.804C>G
n.472C>G
n.761C>G
c.499C>G (p.Gln167Glu)
c.790C>G (p.Gln264Glu)
c.676C>G (p.Gln226Glu)
3g.136298035C>TCA354644822PCCBc.847C>T (p.Gln283Ter)
c.778C>T (p.Gln260Ter)
c.940C>T (p.Gln314Ter)
c.907C>T (p.Gln303Ter)
n.804C>T
n.472C>T
n.761C>T
c.499C>T (p.Gln167Ter)
c.790C>T (p.Gln264Ter)
c.676C>T (p.Gln226Ter)
 ClinVar dbSNP
3g.136298036A>CCA354644825PCCBc.848A>C (p.Gln283Pro)
c.779A>C (p.Gln260Pro)
c.941A>C (p.Gln314Pro)
c.908A>C (p.Gln303Pro)
n.805A>C
n.473A>C
n.762A>C
c.500A>C (p.Gln167Pro)
c.791A>C (p.Gln264Pro)
c.677A>C (p.Gln226Pro)
3g.136298036A>GCA354644826PCCBc.848A>G (p.Gln283Arg)
c.779A>G (p.Gln260Arg)
c.941A>G (p.Gln314Arg)
c.908A>G (p.Gln303Arg)
n.805A>G
n.473A>G
n.762A>G
c.500A>G (p.Gln167Arg)
c.791A>G (p.Gln264Arg)
c.677A>G (p.Gln226Arg)
 gnomAD v4
3g.136298036A>TCA354644829PCCBc.848A>T (p.Gln283Leu)
c.779A>T (p.Gln260Leu)
c.941A>T (p.Gln314Leu)
c.908A>T (p.Gln303Leu)
n.805A>T
n.473A>T
n.762A>T
c.500A>T (p.Gln167Leu)
c.791A>T (p.Gln264Leu)
c.677A>T (p.Gln226Leu)
3g.136298037G>ACA435839941PCCBc.849G>A (p.Gln283=)
c.780G>A (p.Gln260=)
c.942G>A (p.Gln314=)
c.909G>A (p.Gln303=)
n.806G>A
n.474G>A
n.763G>A
c.501G>A (p.Gln167=)
c.792G>A (p.Gln264=)
c.678G>A (p.Gln226=)
3g.136298037G>CCA354644833PCCBc.849G>C (p.Gln283His)
c.780G>C (p.Gln260His)
c.942G>C (p.Gln314His)
c.909G>C (p.Gln303His)
n.806G>C
n.474G>C
n.763G>C
c.501G>C (p.Gln167His)
c.792G>C (p.Gln264His)
c.678G>C (p.Gln226His)
3g.136298037G>TCA354644835PCCBc.849G>T (p.Gln283His)
c.780G>T (p.Gln260His)
c.942G>T (p.Gln314His)
c.909G>T (p.Gln303His)
n.806G>T
n.474G>T
n.763G>T
c.501G>T (p.Gln167His)
c.792G>T (p.Gln264His)
c.678G>T (p.Gln226His)
3g.136298038G>ACA2631891PCCBc.850G>A (p.Asp284Asn)
c.781G>A (p.Asp261Asn)
c.943G>A (p.Asp315Asn)
c.910G>A (p.Asp304Asn)
n.807G>A
n.475G>A
n.764G>A
c.502G>A (p.Asp168Asn)
c.793G>A (p.Asp265Asn)
c.679G>A (p.Asp227Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.136298038G>CCA354644840PCCBc.850G>C (p.Asp284His)
c.781G>C (p.Asp261His)
c.943G>C (p.Asp315His)
c.910G>C (p.Asp304His)
n.807G>C
n.475G>C
n.764G>C
c.502G>C (p.Asp168His)
c.793G>C (p.Asp265His)
c.679G>C (p.Asp227His)
3g.136298038G=CA1404333678PCCBc.850G= (p.Asp284=)
c.781G= (p.Asp261=)
c.943G= (p.Asp315=)
c.910G= (p.Asp304=)
n.807G=
n.475G=
n.764G=
c.502G= (p.Asp168=)
c.793G= (p.Asp265=)
c.679G= (p.Asp227=)
3g.136298038G>TCA354644837PCCBc.850G>T (p.Asp284Tyr)
c.781G>T (p.Asp261Tyr)
c.943G>T (p.Asp315Tyr)
c.910G>T (p.Asp304Tyr)
n.807G>T
n.475G>T
n.764G>T
c.502G>T (p.Asp168Tyr)
c.793G>T (p.Asp265Tyr)
c.679G>T (p.Asp227Tyr)
3g.136298039A>CCA354644844PCCBc.851A>C (p.Asp284Ala)
c.782A>C (p.Asp261Ala)
c.944A>C (p.Asp315Ala)
c.911A>C (p.Asp304Ala)
n.808A>C
n.476A>C
n.765A>C
c.503A>C (p.Asp168Ala)
c.794A>C (p.Asp265Ala)
c.680A>C (p.Asp227Ala)
3g.136298039A>GCA354644855PCCBc.851A>G (p.Asp284Gly)
c.782A>G (p.Asp261Gly)
c.944A>G (p.Asp315Gly)
c.911A>G (p.Asp304Gly)
n.808A>G
n.476A>G
n.765A>G
c.503A>G (p.Asp168Gly)
c.794A>G (p.Asp265Gly)
c.680A>G (p.Asp227Gly)
3g.136298039A>TCA354644848PCCBc.851A>T (p.Asp284Val)
c.782A>T (p.Asp261Val)
c.944A>T (p.Asp315Val)
c.911A>T (p.Asp304Val)
n.808A>T
n.476A>T
n.765A>T
c.503A>T (p.Asp168Val)
c.794A>T (p.Asp265Val)
c.680A>T (p.Asp227Val)
3g.136298040C>ACA354644857PCCBc.852C>A (p.Asp284Glu)
c.783C>A (p.Asp261Glu)
c.945C>A (p.Asp315Glu)
c.912C>A (p.Asp304Glu)
n.809C>A
n.477C>A
n.766C>A
c.504C>A (p.Asp168Glu)
c.795C>A (p.Asp265Glu)
c.681C>A (p.Asp227Glu)
 gnomAD v4
3g.136298040C=CA1404333853PCCBc.852C= (p.Asp284=)
c.783C= (p.Asp261=)
c.945C= (p.Asp315=)
c.912C= (p.Asp304=)
n.809C=
n.477C=
n.766C=
c.504C= (p.Asp168=)
c.795C= (p.Asp265=)
c.681C= (p.Asp227=)
3g.136298040C>GCA354644858PCCBc.852C>G (p.Asp284Glu)
c.783C>G (p.Asp261Glu)
c.945C>G (p.Asp315Glu)
c.912C>G (p.Asp304Glu)
n.809C>G
n.477C>G
n.766C>G
c.504C>G (p.Asp168Glu)
c.795C>G (p.Asp265Glu)
c.681C>G (p.Asp227Glu)
3g.136298040C>TCA435839944PCCBc.852C>T (p.Asp284=)
c.783C>T (p.Asp261=)
c.945C>T (p.Asp315=)
c.912C>T (p.Asp304=)
n.809C>T
n.477C>T
n.766C>T
c.504C>T (p.Asp168=)
c.795C>T (p.Asp265=)
c.681C>T (p.Asp227=)
 ClinVar dbSNP gnomAD v4
3g.136298042delCA2695199292PCCBc.854del (p.Pro285ArgfsTer?)
c.785del (p.Pro262ArgfsTer?)
c.947del (p.Pro316ArgfsTer?)
c.914del (p.Pro305ArgfsTer?)
n.811del
n.479del
n.768del
c.506del (p.Pro169ArgfsTer?)
c.797del (p.Pro266ArgfsTer?)
c.683del (p.Pro228ArgfsTer?)
 ClinVar
3g.136298041C>ACA354644860PCCBc.853C>A (p.Pro285Thr)
c.784C>A (p.Pro262Thr)
c.946C>A (p.Pro316Thr)
c.913C>A (p.Pro305Thr)
n.810C>A
n.478C>A
n.767C>A
c.505C>A (p.Pro169Thr)
c.796C>A (p.Pro266Thr)
c.682C>A (p.Pro228Thr)
3g.136298041C>GCA354644863PCCBc.853C>G (p.Pro285Ala)
c.784C>G (p.Pro262Ala)
c.946C>G (p.Pro316Ala)
c.913C>G (p.Pro305Ala)
n.810C>G
n.478C>G
n.767C>G
c.505C>G (p.Pro169Ala)
c.796C>G (p.Pro266Ala)
c.682C>G (p.Pro228Ala)
3g.136298041C>TCA354644866PCCBc.853C>T (p.Pro285Ser)
c.784C>T (p.Pro262Ser)
c.946C>T (p.Pro316Ser)
c.913C>T (p.Pro305Ser)
n.810C>T
n.478C>T
n.767C>T
c.505C>T (p.Pro169Ser)
c.796C>T (p.Pro266Ser)
c.682C>T (p.Pro228Ser)
3g.136298042C>ACA354644872PCCBc.854C>A (p.Pro285Gln)
c.785C>A (p.Pro262Gln)
c.947C>A (p.Pro316Gln)
c.914C>A (p.Pro305Gln)
n.811C>A
n.479C>A
n.768C>A
c.506C>A (p.Pro169Gln)
c.797C>A (p.Pro266Gln)
c.683C>A (p.Pro228Gln)
3g.136298042C=CA1404333855PCCBc.854C= (p.Pro285=)
c.785C= (p.Pro262=)
c.947C= (p.Pro316=)
c.914C= (p.Pro305=)
n.811C=
n.479C=
n.768C=
c.506C= (p.Pro169=)
c.797C= (p.Pro266=)
c.683C= (p.Pro228=)
3g.136298042C>GCA354644870PCCBc.854C>G (p.Pro285Arg)
c.785C>G (p.Pro262Arg)
c.947C>G (p.Pro316Arg)
c.914C>G (p.Pro305Arg)
n.811C>G
n.479C>G
n.768C>G
c.506C>G (p.Pro169Arg)
c.797C>G (p.Pro266Arg)
c.683C>G (p.Pro228Arg)
3g.136298042C>TCA83796603PCCBc.854C>T (p.Pro285Leu)
c.785C>T (p.Pro262Leu)
c.947C>T (p.Pro316Leu)
c.914C>T (p.Pro305Leu)
n.811C>T
n.479C>T
n.768C>T
c.506C>T (p.Pro169Leu)
c.797C>T (p.Pro266Leu)
c.683C>T (p.Pro228Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.136298043G>ACA83796608PCCBc.855G>A (p.Pro285=)
c.786G>A (p.Pro262=)
c.948G>A (p.Pro316=)
c.915G>A (p.Pro305=)
n.812G>A
n.480G>A
n.769G>A
c.507G>A (p.Pro169=)
c.798G>A (p.Pro266=)
c.684G>A (p.Pro228=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.136298043G>CCA435839949PCCBc.855G>C (p.Pro285=)
c.786G>C (p.Pro262=)
c.948G>C (p.Pro316=)
c.915G>C (p.Pro305=)
n.812G>C
n.480G>C
n.769G>C
c.507G>C (p.Pro169=)
c.798G>C (p.Pro266=)
c.684G>C (p.Pro228=)
3g.136298043G=CA1404333858PCCBc.855G= (p.Pro285=)
c.786G= (p.Pro262=)
c.948G= (p.Pro316=)
c.915G= (p.Pro305=)
n.812G=
n.480G=
n.769G=
c.507G= (p.Pro169=)
c.798G= (p.Pro266=)
c.684G= (p.Pro228=)
3g.136298043G>TCA435839950PCCBc.855G>T (p.Pro285=)
c.786G>T (p.Pro262=)
c.948G>T (p.Pro316=)
c.915G>T (p.Pro305=)
n.812G>T
n.480G>T
n.769G>T
c.507G>T (p.Pro169=)
c.798G>T (p.Pro266=)
c.684G>T (p.Pro228=)
 dbSNP
3g.136298044G>ACA2631892PCCBc.856G>A (p.Ala286Thr)
c.787G>A (p.Ala263Thr)
c.949G>A (p.Ala317Thr)
c.916G>A (p.Ala306Thr)
n.813G>A
n.481G>A
n.770G>A
c.508G>A (p.Ala170Thr)
c.799G>A (p.Ala267Thr)
c.685G>A (p.Ala229Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.136298044G>CCA354644878PCCBc.856G>C (p.Ala286Pro)
c.787G>C (p.Ala263Pro)
c.949G>C (p.Ala317Pro)
c.916G>C (p.Ala306Pro)
n.813G>C
n.481G>C
n.770G>C
c.508G>C (p.Ala170Pro)
c.799G>C (p.Ala267Pro)
c.685G>C (p.Ala229Pro)
3g.136298044G=CA1404333863PCCBc.856G= (p.Ala286=)
c.787G= (p.Ala263=)
c.949G= (p.Ala317=)
c.916G= (p.Ala306=)
n.813G=
n.481G=
n.770G=
c.508G= (p.Ala170=)
c.799G= (p.Ala267=)
c.685G= (p.Ala229=)
3g.136298044G>TCA354644881PCCBc.856G>T (p.Ala286Ser)
c.787G>T (p.Ala263Ser)
c.949G>T (p.Ala317Ser)
c.916G>T (p.Ala306Ser)
n.813G>T
n.481G>T
n.770G>T
c.508G>T (p.Ala170Ser)
c.799G>T (p.Ala267Ser)
c.685G>T (p.Ala229Ser)
3g.136298045C>ACA354644884PCCBc.857C>A (p.Ala286Asp)
c.788C>A (p.Ala263Asp)
c.950C>A (p.Ala317Asp)
c.917C>A (p.Ala306Asp)
n.814C>A
n.482C>A
n.771C>A
c.509C>A (p.Ala170Asp)
c.800C>A (p.Ala267Asp)
c.686C>A (p.Ala229Asp)
3g.136298045C=CA1404333868PCCBc.857C= (p.Ala286=)
c.788C= (p.Ala263=)
c.950C= (p.Ala317=)
c.917C= (p.Ala306=)
n.814C=
n.482C=
n.771C=
c.509C= (p.Ala170=)
c.800C= (p.Ala267=)
c.686C= (p.Ala229=)
3g.136298045C>GCA354644886PCCBc.857C>G (p.Ala286Gly)
c.788C>G (p.Ala263Gly)
c.950C>G (p.Ala317Gly)
c.917C>G (p.Ala306Gly)
n.814C>G
n.482C>G
n.771C>G
c.509C>G (p.Ala170Gly)
c.800C>G (p.Ala267Gly)
c.686C>G (p.Ala229Gly)
3g.136298045C>TCA354644888PCCBc.857C>T (p.Ala286Val)
c.788C>T (p.Ala263Val)
c.950C>T (p.Ala317Val)
c.917C>T (p.Ala306Val)
n.814C>T
n.482C>T
n.771C>T
c.509C>T (p.Ala170Val)
c.800C>T (p.Ala267Val)
c.686C>T (p.Ala229Val)
 dbSNP gnomAD v2 gnomAD v4
3g.136298046T>ACA435839952PCCBc.858T>A (p.Ala286=)
c.789T>A (p.Ala263=)
c.951T>A (p.Ala317=)
c.918T>A (p.Ala306=)
n.815T>A
n.483T>A
n.772T>A
c.510T>A (p.Ala170=)
c.801T>A (p.Ala267=)
c.687T>A (p.Ala229=)
3g.136298046T>CCA435839953PCCBc.858T>C (p.Ala286=)
c.789T>C (p.Ala263=)
c.951T>C (p.Ala317=)
c.918T>C (p.Ala306=)
n.815T>C
n.483T>C
n.772T>C
c.510T>C (p.Ala170=)
c.801T>C (p.Ala267=)
c.687T>C (p.Ala229=)
 dbSNP
3g.136298046T>GCA435839954PCCBc.858T>G (p.Ala286=)
c.789T>G (p.Ala263=)
c.951T>G (p.Ala317=)
c.918T>G (p.Ala306=)
n.815T>G
n.483T>G
n.772T>G
c.510T>G (p.Ala170=)
c.801T>G (p.Ala267=)
c.687T>G (p.Ala229=)
3g.136298046T=CA1404333870PCCBc.858T= (p.Ala286=)
c.789T= (p.Ala263=)
c.951T= (p.Ala317=)
c.918T= (p.Ala306=)
n.815T=
n.483T=
n.772T=
c.510T= (p.Ala170=)
c.801T= (p.Ala267=)
c.687T= (p.Ala229=)
3g.136298047C>ACA354644891PCCBc.859C>A (p.Pro287Thr)
c.790C>A (p.Pro264Thr)
c.952C>A (p.Pro318Thr)
c.919C>A (p.Pro307Thr)
n.816C>A
n.484C>A
n.773C>A
c.511C>A (p.Pro171Thr)
c.802C>A (p.Pro268Thr)
c.688C>A (p.Pro230Thr)
3g.136298047C=CA1404333872PCCBc.859C= (p.Pro287=)
c.790C= (p.Pro264=)
c.952C= (p.Pro318=)
c.919C= (p.Pro307=)
n.816C=
n.484C=
n.773C=
c.511C= (p.Pro171=)
c.802C= (p.Pro268=)
c.688C= (p.Pro230=)
3g.136298047C>GCA354644898PCCBc.859C>G (p.Pro287Ala)
c.790C>G (p.Pro264Ala)
c.952C>G (p.Pro318Ala)
c.919C>G (p.Pro307Ala)
n.816C>G
n.484C>G
n.773C>G
c.511C>G (p.Pro171Ala)
c.802C>G (p.Pro268Ala)
c.688C>G (p.Pro230Ala)
 COSMIC
3g.136298047C>TCA83796610PCCBc.859C>T (p.Pro287Ser)
c.790C>T (p.Pro264Ser)
c.952C>T (p.Pro318Ser)
c.919C>T (p.Pro307Ser)
n.816C>T
n.484C>T
n.773C>T
c.511C>T (p.Pro171Ser)
c.802C>T (p.Pro268Ser)
c.688C>T (p.Pro230Ser)
 dbSNP gnomAD v4
3g.136298048C>ACA354644899PCCBc.860C>A (p.Pro287His)
c.791C>A (p.Pro264His)
c.953C>A (p.Pro318His)
c.920C>A (p.Pro307His)
n.817C>A
n.485C>A
n.774C>A
c.512C>A (p.Pro171His)
c.803C>A (p.Pro268His)
c.689C>A (p.Pro230His)
 dbSNP gnomAD v3 gnomAD v4
3g.136298048C=CA1404333875PCCBc.860C= (p.Pro287=)
c.791C= (p.Pro264=)
c.953C= (p.Pro318=)
c.920C= (p.Pro307=)
n.817C=
n.485C=
n.774C=
c.512C= (p.Pro171=)
c.803C= (p.Pro268=)
c.689C= (p.Pro230=)
3g.136298048C>GCA354644900PCCBc.860C>G (p.Pro287Arg)
c.791C>G (p.Pro264Arg)
c.953C>G (p.Pro318Arg)
c.920C>G (p.Pro307Arg)
n.817C>G
n.485C>G
n.774C>G
c.512C>G (p.Pro171Arg)
c.803C>G (p.Pro268Arg)
c.689C>G (p.Pro230Arg)
3g.136298048C>TCA354644901PCCBc.860C>T (p.Pro287Leu)
c.791C>T (p.Pro264Leu)
c.953C>T (p.Pro318Leu)
c.920C>T (p.Pro307Leu)
n.817C>T
n.485C>T
n.774C>T
c.512C>T (p.Pro171Leu)
c.803C>T (p.Pro268Leu)
c.689C>T (p.Pro230Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.136298049C>ACA435839957PCCBc.861C>A (p.Pro287=)
c.792C>A (p.Pro264=)
c.954C>A (p.Pro318=)
c.921C>A (p.Pro307=)
n.818C>A
n.486C>A
n.775C>A
c.513C>A (p.Pro171=)
c.804C>A (p.Pro268=)
c.690C>A (p.Pro230=)
 ClinVar dbSNP gnomAD v4
3g.136298049C=CA1404333878PCCBc.861C= (p.Pro287=)
c.792C= (p.Pro264=)
c.954C= (p.Pro318=)
c.921C= (p.Pro307=)
n.818C=
n.486C=
n.775C=
c.513C= (p.Pro171=)
c.804C= (p.Pro268=)
c.690C= (p.Pro230=)
3g.136298049C>GCA435839958PCCBc.861C>G (p.Pro287=)
c.792C>G (p.Pro264=)
c.954C>G (p.Pro318=)
c.921C>G (p.Pro307=)
n.818C>G
n.486C>G
n.775C>G
c.513C>G (p.Pro171=)
c.804C>G (p.Pro268=)
c.690C>G (p.Pro230=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.136298049C>TCA2631893PCCBc.861C>T (p.Pro287=)
c.792C>T (p.Pro264=)
c.954C>T (p.Pro318=)
c.921C>T (p.Pro307=)
n.818C>T
n.486C>T
n.775C>T
c.513C>T (p.Pro171=)
c.804C>T (p.Pro268=)
c.690C>T (p.Pro230=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.136298050G>ACA343146PCCBc.862G>A (p.Val288Ile)
c.793G>A (p.Val265Ile)
c.955G>A (p.Val319Ile)
c.922G>A (p.Val308Ile)
n.819G>A
n.487G>A
n.776G>A
c.514G>A (p.Val172Ile)
c.805G>A (p.Val269Ile)
c.691G>A (p.Val231Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.136298050G>CCA2631894PCCBc.862G>C (p.Val288Leu)
c.793G>C (p.Val265Leu)
c.955G>C (p.Val319Leu)
c.922G>C (p.Val308Leu)
n.819G>C
n.487G>C
n.776G>C
c.514G>C (p.Val172Leu)
c.805G>C (p.Val269Leu)
c.691G>C (p.Val231Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.136298050G=CA1404333885PCCBc.862G= (p.Val288=)
c.793G= (p.Val265=)
c.955G= (p.Val319=)
c.922G= (p.Val308=)
n.819G=
n.487G=
n.776G=
c.514G= (p.Val172=)
c.805G= (p.Val269=)
c.691G= (p.Val231=)
3g.136298050G>TCA354644906PCCBc.862G>T (p.Val288Phe)
c.793G>T (p.Val265Phe)
c.955G>T (p.Val319Phe)
c.922G>T (p.Val308Phe)
n.819G>T
n.487G>T
n.776G>T
c.514G>T (p.Val172Phe)
c.805G>T (p.Val269Phe)
c.691G>T (p.Val231Phe)
3g.136298051T>ACA354644908PCCBc.863T>A (p.Val288Asp)
c.794T>A (p.Val265Asp)
c.956T>A (p.Val319Asp)
c.923T>A (p.Val308Asp)
n.820T>A
n.488T>A
n.777T>A
c.515T>A (p.Val172Asp)
c.806T>A (p.Val269Asp)
c.692T>A (p.Val231Asp)
3g.136298051T>CCA354644910PCCBc.863T>C (p.Val288Ala)
c.794T>C (p.Val265Ala)
c.956T>C (p.Val319Ala)
c.923T>C (p.Val308Ala)
n.820T>C
n.488T>C
n.777T>C
c.515T>C (p.Val172Ala)
c.806T>C (p.Val269Ala)
c.692T>C (p.Val231Ala)
3g.136298051T>GCA354644912PCCBc.863T>G (p.Val288Gly)
c.794T>G (p.Val265Gly)
c.956T>G (p.Val319Gly)
c.923T>G (p.Val308Gly)
n.820T>G
n.488T>G
n.777T>G
c.515T>G (p.Val172Gly)
c.806T>G (p.Val269Gly)
c.692T>G (p.Val231Gly)
3g.136298052C>ACA435839960PCCBc.864C>A (p.Val288=)
c.795C>A (p.Val265=)
c.957C>A (p.Val319=)
c.924C>A (p.Val308=)
n.821C>A
n.489C>A
n.778C>A
c.516C>A (p.Val172=)
c.807C>A (p.Val269=)
c.693C>A (p.Val231=)
 ClinVar dbSNP gnomAD v4
3g.136298052C=CA1404333891PCCBc.864C= (p.Val288=)
c.795C= (p.Val265=)
c.957C= (p.Val319=)
c.924C= (p.Val308=)
n.821C=
n.489C=
n.778C=
c.516C= (p.Val172=)
c.807C= (p.Val269=)
c.693C= (p.Val231=)
3g.136298052C>GCA435839963PCCBc.864C>G (p.Val288=)
c.795C>G (p.Val265=)
c.957C>G (p.Val319=)
c.924C>G (p.Val308=)
n.821C>G
n.489C>G
n.778C>G
c.516C>G (p.Val172=)
c.807C>G (p.Val269=)
c.693C>G (p.Val231=)
3g.136298052C>TCA435839965PCCBc.864C>T (p.Val288=)
c.795C>T (p.Val265=)
c.957C>T (p.Val319=)
c.924C>T (p.Val308=)
n.821C>T
n.489C>T
n.778C>T
c.516C>T (p.Val172=)
c.807C>T (p.Val269=)
c.693C>T (p.Val231=)
 dbSNP
3g.136298053C>ACA354644916PCCBc.865C>A (p.Arg289Ser)
c.796C>A (p.Arg266Ser)
c.958C>A (p.Arg320Ser)
c.925C>A (p.Arg309Ser)
n.822C>A
n.490C>A
n.779C>A
c.517C>A (p.Arg173Ser)
c.808C>A (p.Arg270Ser)
c.694C>A (p.Arg232Ser)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.136298053C=CA1404333896PCCBc.865C= (p.Arg289=)
c.796C= (p.Arg266=)
c.958C= (p.Arg320=)
c.925C= (p.Arg309=)
n.822C=
n.490C=
n.779C=
c.517C= (p.Arg173=)
c.808C= (p.Arg270=)
c.694C= (p.Arg232=)
3g.136298053C>GCA354644914PCCBc.865C>G (p.Arg289Gly)
c.796C>G (p.Arg266Gly)
c.958C>G (p.Arg320Gly)
c.925C>G (p.Arg309Gly)
n.822C>G
n.490C>G
n.779C>G
c.517C>G (p.Arg173Gly)
c.808C>G (p.Arg270Gly)
c.694C>G (p.Arg232Gly)
 gnomAD v4
3g.136298053C>TCA2631895PCCBc.865C>T (p.Arg289Cys)
c.796C>T (p.Arg266Cys)
c.958C>T (p.Arg320Cys)
c.925C>T (p.Arg309Cys)
n.822C>T
n.490C>T
n.779C>T
c.517C>T (p.Arg173Cys)
c.808C>T (p.Arg270Cys)
c.694C>T (p.Arg232Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.136298054G>ACA2631896PCCBc.866G>A (p.Arg289His)
c.797G>A (p.Arg266His)
c.959G>A (p.Arg320His)
c.926G>A (p.Arg309His)
n.823G>A
n.491G>A
n.780G>A
c.518G>A (p.Arg173His)
c.809G>A (p.Arg270His)
c.695G>A (p.Arg232His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.136298054G>CCA2631897PCCBc.866G>C (p.Arg289Pro)
c.797G>C (p.Arg266Pro)
c.959G>C (p.Arg320Pro)
c.926G>C (p.Arg309Pro)
n.823G>C
n.491G>C
n.780G>C
c.518G>C (p.Arg173Pro)
c.809G>C (p.Arg270Pro)
c.695G>C (p.Arg232Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.136298054G=CA1404333904PCCBc.866G= (p.Arg289=)
c.797G= (p.Arg266=)
c.959G= (p.Arg320=)
c.926G= (p.Arg309=)
n.823G=
n.491G=
n.780G=
c.518G= (p.Arg173=)
c.809G= (p.Arg270=)
c.695G= (p.Arg232=)
3g.136298054G>TCA354644920PCCBc.866G>T (p.Arg289Leu)
c.797G>T (p.Arg266Leu)
c.959G>T (p.Arg320Leu)
c.926G>T (p.Arg309Leu)
n.823G>T
n.491G>T
n.780G>T
c.518G>T (p.Arg173Leu)
c.809G>T (p.Arg270Leu)
c.695G>T (p.Arg232Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.136298055T>ACA435839969PCCBc.867T>A (p.Arg289=)
c.798T>A (p.Arg266=)
c.960T>A (p.Arg320=)
c.927T>A (p.Arg309=)
n.824T>A
n.492T>A
n.781T>A
c.519T>A (p.Arg173=)
c.810T>A (p.Arg270=)
c.696T>A (p.Arg232=)
3g.136298055T>CCA435839971PCCBc.867T>C (p.Arg289=)
c.798T>C (p.Arg266=)
c.960T>C (p.Arg320=)
c.927T>C (p.Arg309=)
n.824T>C
n.492T>C
n.781T>C
c.519T>C (p.Arg173=)
c.810T>C (p.Arg270=)
c.696T>C (p.Arg232=)
3g.136298055T>GCA435839970PCCBc.867T>G (p.Arg289=)
c.798T>G (p.Arg266=)
c.960T>G (p.Arg320=)
c.927T>G (p.Arg309=)
n.824T>G
n.492T>G
n.781T>G
c.519T>G (p.Arg173=)
c.810T>G (p.Arg270=)
c.696T>G (p.Arg232=)
3g.136298056G>ACA354644922PCCBc.868G>A (p.Glu290Lys)
c.799G>A (p.Glu267Lys)
c.961G>A (p.Glu321Lys)
c.928G>A (p.Glu310Lys)
n.825G>A
n.493G>A
n.782G>A
c.520G>A (p.Glu174Lys)
c.811G>A (p.Glu271Lys)
c.697G>A (p.Glu233Lys)
3g.136298056G>CCA354644924PCCBc.868G>C (p.Glu290Gln)
c.799G>C (p.Glu267Gln)
c.961G>C (p.Glu321Gln)
c.928G>C (p.Glu310Gln)
n.825G>C
n.493G>C
n.782G>C
c.520G>C (p.Glu174Gln)
c.811G>C (p.Glu271Gln)
c.697G>C (p.Glu233Gln)
3g.136298056G>TCA354644925PCCBc.868G>T (p.Glu290Ter)
c.799G>T (p.Glu267Ter)
c.961G>T (p.Glu321Ter)
c.928G>T (p.Glu310Ter)
n.825G>T
n.493G>T
n.782G>T
c.520G>T (p.Glu174Ter)
c.811G>T (p.Glu271Ter)
c.697G>T (p.Glu233Ter)
3g.136298057A>CCA354644931PCCBc.869A>C (p.Glu290Ala)
c.800A>C (p.Glu267Ala)
c.962A>C (p.Glu321Ala)
c.929A>C (p.Glu310Ala)
n.826A>C
n.494A>C
n.783A>C
c.521A>C (p.Glu174Ala)
c.812A>C (p.Glu271Ala)
c.698A>C (p.Glu233Ala)
3g.136298057A>GCA354644927PCCBc.869A>G (p.Glu290Gly)
c.800A>G (p.Glu267Gly)
c.962A>G (p.Glu321Gly)
c.929A>G (p.Glu310Gly)
n.826A>G
n.494A>G
n.783A>G
c.521A>G (p.Glu174Gly)
c.812A>G (p.Glu271Gly)
c.698A>G (p.Glu233Gly)
3g.136298057A>TCA354644929PCCBc.869A>T (p.Glu290Val)
c.800A>T (p.Glu267Val)
c.962A>T (p.Glu321Val)
c.929A>T (p.Glu310Val)
n.826A>T
n.494A>T
n.783A>T
c.521A>T (p.Glu174Val)
c.812A>T (p.Glu271Val)
c.698A>T (p.Glu233Val)
3g.136298058G>ACA435839973PCCBc.870G>A (p.Glu290=)
c.801G>A (p.Glu267=)
c.963G>A (p.Glu321=)
c.930G>A (p.Glu310=)
n.827G>A
n.495G>A
n.784G>A
c.522G>A (p.Glu174=)
c.813G>A (p.Glu271=)
c.699G>A (p.Glu233=)
 gnomAD v4
3g.136298058G>CCA354644933PCCBc.870G>C (p.Glu290Asp)
c.801G>C (p.Glu267Asp)
c.963G>C (p.Glu321Asp)
c.930G>C (p.Glu310Asp)
n.827G>C
n.495G>C
n.784G>C
c.522G>C (p.Glu174Asp)
c.813G>C (p.Glu271Asp)
c.699G>C (p.Glu233Asp)
3g.136298058G>TCA354644935PCCBc.870G>T (p.Glu290Asp)
c.801G>T (p.Glu267Asp)
c.963G>T (p.Glu321Asp)
c.930G>T (p.Glu310Asp)
n.827G>T
n.495G>T
n.784G>T
c.522G>T (p.Glu174Asp)
c.813G>T (p.Glu271Asp)
c.699G>T (p.Glu233Asp)
3g.136298059T>ACA354644937PCCBc.871T>A (p.Cys291Ser)
c.802T>A (p.Cys268Ser)
c.964T>A (p.Cys322Ser)
c.931T>A (p.Cys311Ser)
n.828T>A
n.496T>A
n.785T>A
c.523T>A (p.Cys175Ser)
c.814T>A (p.Cys272Ser)
c.700T>A (p.Cys234Ser)
3g.136298059T>CCA354644939PCCBc.871T>C (p.Cys291Arg)
c.802T>C (p.Cys268Arg)
c.964T>C (p.Cys322Arg)
c.931T>C (p.Cys311Arg)
n.828T>C
n.496T>C
n.785T>C
c.523T>C (p.Cys175Arg)
c.814T>C (p.Cys272Arg)
c.700T>C (p.Cys234Arg)
3g.136298059T>GCA354644941PCCBc.871T>G (p.Cys291Gly)
c.802T>G (p.Cys268Gly)
c.964T>G (p.Cys322Gly)
c.931T>G (p.Cys311Gly)
n.828T>G
n.496T>G
n.785T>G
c.523T>G (p.Cys175Gly)
c.814T>G (p.Cys272Gly)
c.700T>G (p.Cys234Gly)
3g.136298060G>ACA2631898PCCBc.872G>A (p.Cys291Tyr)
c.803G>A (p.Cys268Tyr)
c.965G>A (p.Cys322Tyr)
c.932G>A (p.Cys311Tyr)
n.829G>A
n.497G>A
n.786G>A
c.524G>A (p.Cys175Tyr)
c.815G>A (p.Cys272Tyr)
c.701G>A (p.Cys234Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.136298060G>CCA354644945PCCBc.872G>C (p.Cys291Ser)
c.803G>C (p.Cys268Ser)
c.965G>C (p.Cys322Ser)
c.932G>C (p.Cys311Ser)
n.829G>C
n.497G>C
n.786G>C
c.524G>C (p.Cys175Ser)
c.815G>C (p.Cys272Ser)
c.701G>C (p.Cys234Ser)
3g.136298060G=CA1404333913PCCBc.872G= (p.Cys291=)
c.803G= (p.Cys268=)
c.965G= (p.Cys322=)
c.932G= (p.Cys311=)
n.829G=
n.497G=
n.786G=
c.524G= (p.Cys175=)
c.815G= (p.Cys272=)
c.701G= (p.Cys234=)
3g.136298060G>TCA354644943PCCBc.872G>T (p.Cys291Phe)
c.803G>T (p.Cys268Phe)
c.965G>T (p.Cys322Phe)
c.932G>T (p.Cys311Phe)
n.829G>T
n.497G>T
n.786G>T
c.524G>T (p.Cys175Phe)
c.815G>T (p.Cys272Phe)
c.701G>T (p.Cys234Phe)
3g.136298061C>ACA354644947PCCBc.873C>A (p.Cys291Ter)
c.804C>A (p.Cys268Ter)
c.966C>A (p.Cys322Ter)
c.933C>A (p.Cys311Ter)
n.830C>A
n.498C>A
n.787C>A
c.525C>A (p.Cys175Ter)
c.816C>A (p.Cys272Ter)
c.702C>A (p.Cys234Ter)
3g.136298061C>GCA354644949PCCBc.873C>G (p.Cys291Trp)
c.804C>G (p.Cys268Trp)
c.966C>G (p.Cys322Trp)
c.933C>G (p.Cys311Trp)
n.830C>G
n.498C>G
n.787C>G
c.525C>G (p.Cys175Trp)
c.816C>G (p.Cys272Trp)
c.702C>G (p.Cys234Trp)
3g.136298061C>TCA435839975PCCBc.873C>T (p.Cys291=)
c.804C>T (p.Cys268=)
c.966C>T (p.Cys322=)
c.933C>T (p.Cys311=)
n.830C>T
n.498C>T
n.787C>T
c.525C>T (p.Cys175=)
c.816C>T (p.Cys272=)
c.702C>T (p.Cys234=)

Number of alleles fetched