Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.43339958C=CA1165576515MPLc.691-6C= (n.691-6C=)
c.670-6C= (n.670-6C=)
n.691-6C=
c.862-6C= (n.862-6C=)
1g.43339958C>TCA806734MPLc.691-6C>T (n.691-6C>T)
c.670-6C>T (n.670-6C>T)
n.691-6C>T
c.862-6C>T (n.862-6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43339960C>TCA2574340809MPLc.691-4C>T (n.691-4C>T)
c.670-4C>T (n.670-4C>T)
n.691-4C>T
c.862-4C>T (n.862-4C>T)
 ClinVar dbSNP
1g.43339962A>CCA339976011MPLc.691-2A>C (n.691-2A>C)
c.670-2A>C (n.670-2A>C)
n.691-2A>C
c.862-2A>C (n.862-2A>C)
1g.43339962A>GCA339976005MPLc.691-2A>G (n.691-2A>G)
c.670-2A>G (n.670-2A>G)
n.691-2A>G
c.862-2A>G (n.862-2A>G)
1g.43339962A>TCA339976010MPLc.691-2A>T (n.691-2A>T)
c.670-2A>T (n.670-2A>T)
n.691-2A>T
c.862-2A>T (n.862-2A>T)
 gnomAD v4
1g.43339963G>ACA339976012MPLc.691-1G>A (n.691-1G>A)
c.670-1G>A (n.670-1G>A)
n.691-1G>A
c.862-1G>A (n.862-1G>A)
1g.43339963G>CCA339976014MPLc.691-1G>C (n.691-1G>C)
c.670-1G>C (n.670-1G>C)
n.691-1G>C
c.862-1G>C (n.862-1G>C)
1g.43339963G>TCA339976016MPLc.691-1G>T (n.691-1G>T)
c.670-1G>T (n.670-1G>T)
n.691-1G>T
c.862-1G>T (n.862-1G>T)
1g.43339964G>ACA339976019MPLc.691G>A (p.Ala231Thr)
c.670G>A (p.Ala224Thr)
n.691G>A
c.862G>A (p.Ala288Thr)
 gnomAD v4
1g.43339964G>CCA339976022MPLc.691G>C (p.Ala231Pro)
c.670G>C (p.Ala224Pro)
n.691G>C
c.862G>C (p.Ala288Pro)
 gnomAD v4
1g.43339964G>TCA339976024MPLc.691G>T (p.Ala231Ser)
c.670G>T (p.Ala224Ser)
n.691G>T
c.862G>T (p.Ala288Ser)
1g.43339965C>ACA339976026MPLc.692C>A (p.Ala231Asp)
c.671C>A (p.Ala224Asp)
n.692C>A
c.863C>A (p.Ala288Asp)
1g.43339965C>GCA339976027MPLc.692C>G (p.Ala231Gly)
c.671C>G (p.Ala224Gly)
n.692C>G
c.863C>G (p.Ala288Gly)
1g.43339965C>TCA339976030MPLc.692C>T (p.Ala231Val)
c.671C>T (p.Ala224Val)
n.692C>T
c.863C>T (p.Ala288Val)
1g.43339966T>ACA417419034MPLc.693T>A (p.Ala231=)
c.672T>A (p.Ala224=)
n.693T>A
c.864T>A (p.Ala288=)
1g.43339966T>CCA417419035MPLc.693T>C (p.Ala231=)
c.672T>C (p.Ala224=)
n.693T>C
c.864T>C (p.Ala288=)
1g.43339966T>GCA417419037MPLc.693T>G (p.Ala231=)
c.672T>G (p.Ala224=)
n.693T>G
c.864T>G (p.Ala288=)
1g.43339967T>ACA339976047MPLc.694T>A (p.Ser232Thr)
c.673T>A (p.Ser225Thr)
n.694T>A
c.865T>A (p.Ser289Thr)
1g.43339967T>CCA339976035MPLc.694T>C (p.Ser232Pro)
c.673T>C (p.Ser225Pro)
n.694T>C
c.865T>C (p.Ser289Pro)
 gnomAD v3 gnomAD v4
1g.43339967T>GCA339976032MPLc.694T>G (p.Ser232Ala)
c.673T>G (p.Ser225Ala)
n.694T>G
c.865T>G (p.Ser289Ala)
1g.43339968C>ACA339976052MPLc.695C>A (p.Ser232Ter)
c.674C>A (p.Ser225Ter)
n.695C>A
c.866C>A (p.Ser289Ter)
 ClinVar dbSNP
1g.43339968C=CA1165576516MPLc.695C= (p.Ser232=)
c.674C= (p.Ser225=)
n.695C=
c.866C= (p.Ser289=)
1g.43339968C>GCA339976055MPLc.695C>G (p.Ser232Ter)
c.674C>G (p.Ser225Ter)
n.695C>G
c.866C>G (p.Ser289Ter)
 COSMIC
1g.43339968C>TCA339976059MPLc.695C>T (p.Ser232Leu)
c.674C>T (p.Ser225Leu)
n.695C>T
c.866C>T (p.Ser289Leu)
1g.43339969A=CA1165576517MPLc.696A= (p.Ser232=)
c.675A= (p.Ser225=)
n.696A=
c.867A= (p.Ser289=)
1g.43339969A>CCA417419084MPLc.696A>C (p.Ser232=)
c.675A>C (p.Ser225=)
n.696A>C
c.867A>C (p.Ser289=)
1g.43339969A>GCA806735MPLc.696A>G (p.Ser232=)
c.675A>G (p.Ser225=)
n.696A>G
c.867A>G (p.Ser289=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43339969A>TCA417419089MPLc.696A>T (p.Ser232=)
c.675A>T (p.Ser225=)
n.696A>T
c.867A>T (p.Ser289=)
 ClinVar dbSNP gnomAD v4
1g.43339970G>ACA339976063MPLc.697G>A (p.Ala233Thr)
c.676G>A (p.Ala226Thr)
n.697G>A
c.868G>A (p.Ala290Thr)
1g.43339970G>CCA339976065MPLc.697G>C (p.Ala233Pro)
c.676G>C (p.Ala226Pro)
n.697G>C
c.868G>C (p.Ala290Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.43339970G=CA1165576518MPLc.697G= (p.Ala233=)
c.676G= (p.Ala226=)
n.697G=
c.868G= (p.Ala290=)
1g.43339970G>TCA339976066MPLc.697G>T (p.Ala233Ser)
c.676G>T (p.Ala226Ser)
n.697G>T
c.868G>T (p.Ala290Ser)
 gnomAD v3 gnomAD v4
1g.43339971C>ACA339976072MPLc.698C>A (p.Ala233Asp)
c.677C>A (p.Ala226Asp)
n.698C>A
c.869C>A (p.Ala290Asp)
1g.43339971C>GCA339976078MPLc.698C>G (p.Ala233Gly)
c.677C>G (p.Ala226Gly)
n.698C>G
c.869C>G (p.Ala290Gly)
1g.43339971C>TCA339976082MPLc.698C>T (p.Ala233Val)
c.677C>T (p.Ala226Val)
n.698C>T
c.869C>T (p.Ala290Val)
1g.43339972T>ACA417419104MPLc.699T>A (p.Ala233=)
c.678T>A (p.Ala226=)
n.699T>A
c.870T>A (p.Ala290=)
1g.43339972T>CCA417419107MPLc.699T>C (p.Ala233=)
c.678T>C (p.Ala226=)
n.699T>C
c.870T>C (p.Ala290=)
1g.43339972T>GCA417419110MPLc.699T>G (p.Ala233=)
c.678T>G (p.Ala226=)
n.699T>G
c.870T>G (p.Ala290=)
1g.43339973C>ACA339976086MPLc.700C>A (p.Leu234Met)
c.679C>A (p.Leu227Met)
n.700C>A
c.871C>A (p.Leu291Met)
1g.43339973C>GCA339976090MPLc.700C>G (p.Leu234Val)
c.679C>G (p.Leu227Val)
n.700C>G
c.871C>G (p.Leu291Val)
1g.43339973C>TCA417419117MPLc.700C>T (p.Leu234=)
c.679C>T (p.Leu227=)
n.700C>T
c.871C>T (p.Leu291=)
1g.43339974T>ACA339976098MPLc.701T>A (p.Leu234Gln)
c.680T>A (p.Leu227Gln)
n.701T>A
c.872T>A (p.Leu291Gln)
1g.43339974T>CCA339976101MPLc.701T>C (p.Leu234Pro)
c.680T>C (p.Leu227Pro)
n.701T>C
c.872T>C (p.Leu291Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.43339974T>GCA339976096MPLc.701T>G (p.Leu234Arg)
c.680T>G (p.Leu227Arg)
n.701T>G
c.872T>G (p.Leu291Arg)
1g.43339974T=CA1165576519MPLc.701T= (p.Leu234=)
c.680T= (p.Leu227=)
n.701T=
c.872T= (p.Leu291=)
1g.43339975G>ACA417419128MPLc.702G>A (p.Leu234=)
c.681G>A (p.Leu227=)
n.702G>A
c.873G>A (p.Leu291=)
1g.43339975G>CCA417419131MPLc.702G>C (p.Leu234=)
c.681G>C (p.Leu227=)
n.702G>C
c.873G>C (p.Leu291=)
1g.43339975G>TCA417419135MPLc.702G>T (p.Leu234=)
c.681G>T (p.Leu227=)
n.702G>T
c.873G>T (p.Leu291=)
1g.43339976A>CCA339976105MPLc.703A>C (p.Thr235Pro)
c.682A>C (p.Thr228Pro)
n.703A>C
c.874A>C (p.Thr292Pro)
1g.43339976A>GCA339976113MPLc.703A>G (p.Thr235Ala)
c.682A>G (p.Thr228Ala)
n.703A>G
c.874A>G (p.Thr292Ala)
 dbSNP
1g.43339976A>TCA339976123MPLc.703A>T (p.Thr235Ser)
c.682A>T (p.Thr228Ser)
n.703A>T
c.874A>T (p.Thr292Ser)
 dbSNP
1g.43339977C>ACA806736MPLc.704C>A (p.Thr235Lys)
c.683C>A (p.Thr228Lys)
n.704C>A
c.875C>A (p.Thr292Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43339977C=CA1165576520MPLc.704C= (p.Thr235=)
c.683C= (p.Thr228=)
n.704C=
c.875C= (p.Thr292=)
1g.43339977C>GCA339976139MPLc.704C>G (p.Thr235Arg)
c.683C>G (p.Thr228Arg)
n.704C>G
c.875C>G (p.Thr292Arg)
1g.43339977C>TCA339976142MPLc.704C>T (p.Thr235Ile)
c.683C>T (p.Thr228Ile)
n.704C>T
c.875C>T (p.Thr292Ile)
 gnomAD v4
1g.43339978A>CCA417419162MPLc.705A>C (p.Thr235=)
c.684A>C (p.Thr228=)
n.705A>C
c.876A>C (p.Thr292=)
1g.43339978A>GCA417419163MPLc.705A>G (p.Thr235=)
c.684A>G (p.Thr228=)
n.705A>G
c.876A>G (p.Thr292=)
1g.43339978A>TCA417419166MPLc.705A>T (p.Thr235=)
c.684A>T (p.Thr228=)
n.705A>T
c.876A>T (p.Thr292=)
1g.43339979G>ACA339976175MPLc.706G>A (p.Ala236Thr)
c.685G>A (p.Ala229Thr)
n.706G>A
c.877G>A (p.Ala293Thr)
 dbSNP
1g.43339979G>CCA339976184MPLc.706G>C (p.Ala236Pro)
c.685G>C (p.Ala229Pro)
n.706G>C
c.877G>C (p.Ala293Pro)
1g.43339979G>TCA339976189MPLc.706G>T (p.Ala236Ser)
c.685G>T (p.Ala229Ser)
n.706G>T
c.877G>T (p.Ala293Ser)
1g.43339980C>ACA339976198MPLc.707C>A (p.Ala236Glu)
c.686C>A (p.Ala229Glu)
n.707C>A
c.878C>A (p.Ala293Glu)
1g.43339980C>GCA339976201MPLc.707C>G (p.Ala236Gly)
c.686C>G (p.Ala229Gly)
n.707C>G
c.878C>G (p.Ala293Gly)
1g.43339980C>TCA339976208MPLc.707C>T (p.Ala236Val)
c.686C>T (p.Ala229Val)
n.707C>T
c.878C>T (p.Ala293Val)
 dbSNP
1g.43339981A>CCA417419187MPLc.708A>C (p.Ala236=)
c.687A>C (p.Ala229=)
n.708A>C
c.879A>C (p.Ala293=)
1g.43339981A>GCA417419189MPLc.708A>G (p.Ala236=)
c.687A>G (p.Ala229=)
n.708A>G
c.879A>G (p.Ala293=)
 gnomAD v3 gnomAD v4
1g.43339981A>TCA417419193MPLc.708A>T (p.Ala236=)
c.687A>T (p.Ala229=)
n.708A>T
c.879A>T (p.Ala293=)
1g.43339982G>ACA21607920MPLc.709G>A (p.Glu237Lys)
c.688G>A (p.Glu230Lys)
n.709G>A
c.880G>A (p.Glu294Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43339982G>CCA339976227MPLc.709G>C (p.Glu237Gln)
c.688G>C (p.Glu230Gln)
n.709G>C
c.880G>C (p.Glu294Gln)
 dbSNP
1g.43339982G=CA1165576521MPLc.709G= (p.Glu237=)
c.688G= (p.Glu230=)
n.709G=
c.880G= (p.Glu294=)
1g.43339982G>TCA339976211MPLc.709G>T (p.Glu237Ter)
c.688G>T (p.Glu230Ter)
n.709G>T
c.880G>T (p.Glu294Ter)
 ClinVar
1g.43339983A>CCA339976231MPLc.710A>C (p.Glu237Ala)
c.689A>C (p.Glu230Ala)
n.710A>C
c.881A>C (p.Glu294Ala)
1g.43339983A>GCA339976232MPLc.710A>G (p.Glu237Gly)
c.689A>G (p.Glu230Gly)
n.710A>G
c.881A>G (p.Glu294Gly)
1g.43339983A>TCA339976235MPLc.710A>T (p.Glu237Val)
c.689A>T (p.Glu230Val)
n.710A>T
c.881A>T (p.Glu294Val)
1g.43339984G>ACA417419208MPLc.711G>A (p.Glu237=)
c.690G>A (p.Glu230=)
n.711G>A
c.882G>A (p.Glu294=)
1g.43339984G>CCA339976251MPLc.711G>C (p.Glu237Asp)
c.690G>C (p.Glu230Asp)
n.711G>C
c.882G>C (p.Glu294Asp)
1g.43339984G>TCA339976254MPLc.711G>T (p.Glu237Asp)
c.690G>T (p.Glu230Asp)
n.711G>T
c.882G>T (p.Glu294Asp)
 dbSNP
1g.43339985G>ACA339976282MPLc.712G>A (p.Gly238Ser)
c.691G>A (p.Gly231Ser)
n.712G>A
c.883G>A (p.Gly295Ser)
1g.43339985G>CCA339976270MPLc.712G>C (p.Gly238Arg)
c.691G>C (p.Gly231Arg)
n.712G>C
c.883G>C (p.Gly295Arg)
1g.43339985G=CA1141976761MPLc.712G= (p.Gly238=)
c.691G= (p.Gly231=)
n.712G=
c.883G= (p.Gly295=)
1g.43339985G>TCA806737MPLc.712G>T (p.Gly238Cys)
c.691G>T (p.Gly231Cys)
n.712G>T
c.883G>T (p.Gly295Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43339986G>ACA339976283MPLc.713G>A (p.Gly238Asp)
c.692G>A (p.Gly231Asp)
n.713G>A
c.884G>A (p.Gly295Asp)
 dbSNP COSMIC COSMIC
1g.43339986G>CCA339976284MPLc.713G>C (p.Gly238Ala)
c.692G>C (p.Gly231Ala)
n.713G>C
c.884G>C (p.Gly295Ala)
1g.43339986G=CA1165576522MPLc.713G= (p.Gly238=)
c.692G= (p.Gly231=)
n.713G=
c.884G= (p.Gly295=)
1g.43339986G>TCA339976285MPLc.713G>T (p.Gly238Val)
c.692G>T (p.Gly231Val)
n.713G>T
c.884G>T (p.Gly295Val)
1g.43339987T>ACA417419237MPLc.714T>A (p.Gly238=)
c.693T>A (p.Gly231=)
n.714T>A
c.885T>A (p.Gly295=)
1g.43339987T>CCA417419241MPLc.714T>C (p.Gly238=)
c.693T>C (p.Gly231=)
n.714T>C
c.885T>C (p.Gly295=)
 gnomAD v4
1g.43339987T>GCA417419245MPLc.714T>G (p.Gly238=)
c.693T>G (p.Gly231=)
n.714T>G
c.885T>G (p.Gly295=)
1g.43339988G>ACA339976290MPLc.715G>A (p.Gly239Arg)
c.694G>A (p.Gly232Arg)
n.715G>A
c.886G>A (p.Gly296Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.43339988G>CCA339976293MPLc.715G>C (p.Gly239Arg)
c.694G>C (p.Gly232Arg)
n.715G>C
c.886G>C (p.Gly296Arg)
1g.43339988G=CA1165576523MPLc.715G= (p.Gly239=)
c.694G= (p.Gly232=)
n.715G=
c.886G= (p.Gly296=)
1g.43339988G>TCA339976298MPLc.715G>T (p.Gly239Ter)
c.694G>T (p.Gly232Ter)
n.715G>T
c.886G>T (p.Gly296Ter)
1g.43339989G>ACA339976301MPLc.716G>A (p.Gly239Glu)
c.695G>A (p.Gly232Glu)
n.716G>A
c.887G>A (p.Gly296Glu)
 gnomAD v4
1g.43339989G>CCA339976307MPLc.716G>C (p.Gly239Ala)
c.695G>C (p.Gly232Ala)
n.716G>C
c.887G>C (p.Gly296Ala)
1g.43339989G>TCA339976302MPLc.716G>T (p.Gly239Val)
c.695G>T (p.Gly232Val)
n.716G>T
c.887G>T (p.Gly296Val)
1g.43339990A>CCA417419265MPLc.717A>C (p.Gly239=)
c.696A>C (p.Gly232=)
n.717A>C
c.888A>C (p.Gly296=)
1g.43339990A>GCA417419268MPLc.717A>G (p.Gly239=)
c.696A>G (p.Gly232=)
n.717A>G
c.888A>G (p.Gly296=)
1g.43339990A>TCA417419271MPLc.717A>T (p.Gly239=)
c.696A>T (p.Gly232=)
n.717A>T
c.888A>T (p.Gly296=)
1g.43339991dupCA2505256055MPLc.718dup (p.Ser240LysfsTer22)
c.697dup (p.Ser233LysfsTer22)
n.718dup
c.889dup (p.Ser297LysfsTer22)
1g.43339991A>CCA339976311MPLc.718A>C (p.Ser240Arg)
c.697A>C (p.Ser233Arg)
n.718A>C
c.889A>C (p.Ser297Arg)
1g.43339991A>GCA339976321MPLc.718A>G (p.Ser240Gly)
c.697A>G (p.Ser233Gly)
n.718A>G
c.889A>G (p.Ser297Gly)
1g.43339991A>TCA339976315MPLc.718A>T (p.Ser240Cys)
c.697A>T (p.Ser233Cys)
n.718A>T
c.889A>T (p.Ser297Cys)
1g.43339992G>ACA339976322MPLc.719G>A (p.Ser240Asn)
c.698G>A (p.Ser233Asn)
n.719G>A
c.890G>A (p.Ser297Asn)
 dbSNP
1g.43339992G>CCA339976323MPLc.719G>C (p.Ser240Thr)
c.698G>C (p.Ser233Thr)
n.719G>C
c.890G>C (p.Ser297Thr)
 dbSNP
1g.43339992G=CA1165576524MPLc.719G= (p.Ser240=)
c.698G= (p.Ser233=)
n.719G=
c.890G= (p.Ser297=)
1g.43339992G>TCA806738MPLc.719G>T (p.Ser240Ile)
c.698G>T (p.Ser233Ile)
n.719G>T
c.890G>T (p.Ser297Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43339993C>ACA339976326MPLc.720C>A (p.Ser240Arg)
c.699C>A (p.Ser233Arg)
n.720C>A
c.891C>A (p.Ser297Arg)
1g.43339993C>GCA339976339MPLc.720C>G (p.Ser240Arg)
c.699C>G (p.Ser233Arg)
n.720C>G
c.891C>G (p.Ser297Arg)
1g.43339993C>TCA417419292MPLc.720C>T (p.Ser240=)
c.699C>T (p.Ser233=)
n.720C>T
c.891C>T (p.Ser297=)
1g.43339994T>ACA339976349MPLc.721T>A (p.Cys241Ser)
c.700T>A (p.Cys234Ser)
n.721T>A
c.892T>A (p.Cys298Ser)
1g.43339994T>CCA339976350MPLc.721T>C (p.Cys241Arg)
c.700T>C (p.Cys234Arg)
n.721T>C
c.892T>C (p.Cys298Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.43339994T>GCA339976352MPLc.721T>G (p.Cys241Gly)
c.700T>G (p.Cys234Gly)
n.721T>G
c.892T>G (p.Cys298Gly)
1g.43339994T=CA1165576525MPLc.721T= (p.Cys241=)
c.700T= (p.Cys234=)
n.721T=
c.892T= (p.Cys298=)
1g.43339995G>ACA339976357MPLc.722G>A (p.Cys241Tyr)
c.701G>A (p.Cys234Tyr)
n.722G>A
c.893G>A (p.Cys298Tyr)
1g.43339995G>CCA339976358MPLc.722G>C (p.Cys241Ser)
c.701G>C (p.Cys234Ser)
n.722G>C
c.893G>C (p.Cys298Ser)
1g.43339995G>TCA339976359MPLc.722G>T (p.Cys241Phe)
c.701G>T (p.Cys234Phe)
n.722G>T
c.893G>T (p.Cys298Phe)
1g.43339996C>ACA339976363MPLc.723C>A (p.Cys241Ter)
c.702C>A (p.Cys234Ter)
n.723C>A
c.894C>A (p.Cys298Ter)
 dbSNP
1g.43339996C>GCA339976367MPLc.723C>G (p.Cys241Trp)
c.702C>G (p.Cys234Trp)
n.723C>G
c.894C>G (p.Cys298Trp)
 dbSNP
1g.43339996C>TCA417419314MPLc.723C>T (p.Cys241=)
c.702C>T (p.Cys234=)
n.723C>T
c.894C>T (p.Cys298=)
 ClinVar dbSNP
1g.43339997C>ACA339976374MPLc.724C>A (p.Leu242Ile)
c.703C>A (p.Leu235Ile)
n.724C>A
c.895C>A (p.Leu299Ile)
1g.43339997C>GCA339976376MPLc.724C>G (p.Leu242Val)
c.703C>G (p.Leu235Val)
n.724C>G
c.895C>G (p.Leu299Val)
1g.43339997C>TCA339976381MPLc.724C>T (p.Leu242Phe)
c.703C>T (p.Leu235Phe)
n.724C>T
c.895C>T (p.Leu299Phe)
1g.43339998T>ACA339976399MPLc.725T>A (p.Leu242His)
c.704T>A (p.Leu235His)
n.725T>A
c.896T>A (p.Leu299His)
 dbSNP
1g.43339998T>CCA339976390MPLc.725T>C (p.Leu242Pro)
c.704T>C (p.Leu235Pro)
n.725T>C
c.896T>C (p.Leu299Pro)
1g.43339998T>GCA339976395MPLc.725T>G (p.Leu242Arg)
c.704T>G (p.Leu235Arg)
n.725T>G
c.896T>G (p.Leu299Arg)
1g.43339999C>ACA417419320MPLc.726C>A (p.Leu242=)
c.705C>A (p.Leu235=)
n.726C>A
c.897C>A (p.Leu299=)
1g.43339999C=CA1165576526MPLc.726C= (p.Leu242=)
c.705C= (p.Leu235=)
n.726C=
c.897C= (p.Leu299=)
1g.43339999C>GCA417419322MPLc.726C>G (p.Leu242=)
c.705C>G (p.Leu235=)
n.726C>G
c.897C>G (p.Leu299=)
 dbSNP
1g.43339999C>TCA417419323MPLc.726C>T (p.Leu242=)
c.705C>T (p.Leu235=)
n.726C>T
c.897C>T (p.Leu299=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.43340000A>CCA339976411MPLc.727A>C (p.Ile243Leu)
c.706A>C (p.Ile236Leu)
n.727A>C
c.898A>C (p.Ile300Leu)
1g.43340000A>GCA339976415MPLc.727A>G (p.Ile243Val)
c.706A>G (p.Ile236Val)
n.727A>G
c.898A>G (p.Ile300Val)
1g.43340000A>TCA339976416MPLc.727A>T (p.Ile243Phe)
c.706A>T (p.Ile236Phe)
n.727A>T
c.898A>T (p.Ile300Phe)
1g.43340001T>ACA339976417MPLc.728T>A (p.Ile243Asn)
c.707T>A (p.Ile236Asn)
n.728T>A
c.899T>A (p.Ile300Asn)
1g.43340001T>CCA339976423MPLc.728T>C (p.Ile243Thr)
c.707T>C (p.Ile236Thr)
n.728T>C
c.899T>C (p.Ile300Thr)
1g.43340001T>GCA339976424MPLc.728T>G (p.Ile243Ser)
c.707T>G (p.Ile236Ser)
n.728T>G
c.899T>G (p.Ile300Ser)
1g.43340002C>ACA417419341MPLc.729C>A (p.Ile243=)
c.708C>A (p.Ile236=)
n.729C>A
c.900C>A (p.Ile300=)
1g.43340002C>GCA339976427MPLc.729C>G (p.Ile243Met)
c.708C>G (p.Ile236Met)
n.729C>G
c.900C>G (p.Ile300Met)
1g.43340002C>TCA417419345MPLc.729C>T (p.Ile243=)
c.708C>T (p.Ile236=)
n.729C>T
c.900C>T (p.Ile300=)
 gnomAD v4
1g.43340003T>ACA339976432MPLc.730T>A (p.Ser244Thr)
c.709T>A (p.Ser237Thr)
n.730T>A
c.901T>A (p.Ser301Thr)
1g.43340003T>CCA21607935MPLc.730T>C (p.Ser244Pro)
c.709T>C (p.Ser237Pro)
n.730T>C
c.901T>C (p.Ser301Pro)
 ClinVar dbSNP
1g.43340003T>GCA339976439MPLc.730T>G (p.Ser244Ala)
c.709T>G (p.Ser237Ala)
n.730T>G
c.901T>G (p.Ser301Ala)
1g.43340003T=CA1143590229MPLc.730T= (p.Ser244=)
c.709T= (p.Ser237=)
n.730T=
c.901T= (p.Ser301=)
1g.43340004C>ACA339976451MPLc.731C>A (p.Ser244Ter)
c.710C>A (p.Ser237Ter)
n.731C>A
c.902C>A (p.Ser301Ter)
 ClinVar
1g.43340004C>GCA339976453MPLc.731C>G (p.Ser244Ter)
c.710C>G (p.Ser237Ter)
n.731C>G
c.902C>G (p.Ser301Ter)
1g.43340004C>TCA339976441MPLc.731C>T (p.Ser244Leu)
c.710C>T (p.Ser237Leu)
n.731C>T
c.902C>T (p.Ser301Leu)
 dbSNP
1g.43340005A>CCA417419360MPLc.732A>C (p.Ser244=)
c.711A>C (p.Ser237=)
n.732A>C
c.903A>C (p.Ser301=)
1g.43340005A>GCA417419363MPLc.732A>G (p.Ser244=)
c.711A>G (p.Ser237=)
n.732A>G
c.903A>G (p.Ser301=)
 gnomAD v4
1g.43340005A>TCA417419366MPLc.732A>T (p.Ser244=)
c.711A>T (p.Ser237=)
n.732A>T
c.903A>T (p.Ser301=)
 dbSNP
1g.43340006G>ACA160841MPLc.733G>A (p.Gly245Arg)
c.712G>A (p.Gly238Arg)
n.733G>A
c.904G>A (p.Gly302Arg)
 ClinVar dbSNP gnomAD v4
1g.43340006G>CCA339976459MPLc.733G>C (p.Gly245Arg)
c.712G>C (p.Gly238Arg)
n.733G>C
c.904G>C (p.Gly302Arg)
 gnomAD v4
1g.43340006G=CA1148224240MPLc.733G= (p.Gly245=)
c.712G= (p.Gly238=)
n.733G=
c.904G= (p.Gly302=)
1g.43340006G>TCA339976463MPLc.733G>T (p.Gly245Ter)
c.712G>T (p.Gly238Ter)
n.733G>T
c.904G>T (p.Gly302Ter)
1g.43340007G>ACA339976482MPLc.734G>A (p.Gly245Glu)
c.713G>A (p.Gly238Glu)
n.734G>A
c.905G>A (p.Gly302Glu)
1g.43340007G>CCA339976485MPLc.734G>C (p.Gly245Ala)
c.713G>C (p.Gly238Ala)
n.734G>C
c.905G>C (p.Gly302Ala)
1g.43340007G>TCA339976488MPLc.734G>T (p.Gly245Val)
c.713G>T (p.Gly238Val)
n.734G>T
c.905G>T (p.Gly302Val)
1g.43340008A>CCA417419388MPLc.735A>C (p.Gly245=)
c.714A>C (p.Gly238=)
n.735A>C
c.906A>C (p.Gly302=)
1g.43340008A>GCA417419391MPLc.735A>G (p.Gly245=)
c.714A>G (p.Gly238=)
n.735A>G
c.906A>G (p.Gly302=)
1g.43340008A>TCA417419394MPLc.735A>T (p.Gly245=)
c.714A>T (p.Gly238=)
n.735A>T
c.906A>T (p.Gly302=)
1g.43340009C>ACA339976489MPLc.736C>A (p.Leu246Ile)
c.715C>A (p.Leu239Ile)
n.736C>A
c.907C>A (p.Leu303Ile)
 gnomAD v4
1g.43340009C>GCA339976490MPLc.736C>G (p.Leu246Val)
c.715C>G (p.Leu239Val)
n.736C>G
c.907C>G (p.Leu303Val)
1g.43340009C>TCA339976491MPLc.736C>T (p.Leu246Phe)
c.715C>T (p.Leu239Phe)
n.736C>T
c.907C>T (p.Leu303Phe)
 dbSNP
1g.43340010T>ACA339976504MPLc.737T>A (p.Leu246His)
c.716T>A (p.Leu239His)
n.737T>A
c.908T>A (p.Leu303His)
1g.43340010T>CCA339976510MPLc.737T>C (p.Leu246Pro)
c.716T>C (p.Leu239Pro)
n.737T>C
c.908T>C (p.Leu303Pro)
 gnomAD v4
1g.43340010T>GCA339976514MPLc.737T>G (p.Leu246Arg)
c.716T>G (p.Leu239Arg)
n.737T>G
c.908T>G (p.Leu303Arg)
1g.43340011C>ACA417419406MPLc.738C>A (p.Leu246=)
c.717C>A (p.Leu239=)
n.738C>A
c.909C>A (p.Leu303=)
1g.43340011C>GCA417419409MPLc.738C>G (p.Leu246=)
c.717C>G (p.Leu239=)
n.738C>G
c.909C>G (p.Leu303=)
 dbSNP COSMIC COSMIC
1g.43340011C>TCA417419411MPLc.738C>T (p.Leu246=)
c.717C>T (p.Leu239=)
n.738C>T
c.909C>T (p.Leu303=)
1g.43340012C>ACA339976531MPLc.739C>A (p.Gln247Lys)
c.718C>A (p.Gln240Lys)
n.739C>A
c.910C>A (p.Gln304Lys)
1g.43340012C>GCA339976523MPLc.739C>G (p.Gln247Glu)
c.718C>G (p.Gln240Glu)
n.739C>G
c.910C>G (p.Gln304Glu)
1g.43340012C>TCA339976528MPLc.739C>T (p.Gln247Ter)
c.718C>T (p.Gln240Ter)
n.739C>T
c.910C>T (p.Gln304Ter)
 dbSNP
1g.43340013A>CCA339976536MPLc.740A>C (p.Gln247Pro)
c.719A>C (p.Gln240Pro)
n.740A>C
c.911A>C (p.Gln304Pro)
1g.43340013A>GCA339976543MPLc.740A>G (p.Gln247Arg)
c.719A>G (p.Gln240Arg)
n.740A>G
c.911A>G (p.Gln304Arg)
1g.43340013A>TCA339976545MPLc.740A>T (p.Gln247Leu)
c.719A>T (p.Gln240Leu)
n.740A>T
c.911A>T (p.Gln304Leu)
1g.43340014G>ACA417419423MPLc.741G>A (p.Gln247=)
c.720G>A (p.Gln240=)
n.741G>A
c.912G>A (p.Gln304=)
 gnomAD v4
1g.43340014G>CCA339976547MPLc.741G>C (p.Gln247His)
c.720G>C (p.Gln240His)
n.741G>C
c.912G>C (p.Gln304His)
1g.43340014G>TCA339976550MPLc.741G>T (p.Gln247His)
c.720G>T (p.Gln240His)
n.741G>T
c.912G>T (p.Gln304His)
 gnomAD v4
1g.43340015C>ACA339976554MPLc.742C>A (p.Pro248Thr)
c.721C>A (p.Pro241Thr)
n.742C>A
c.913C>A (p.Pro305Thr)
1g.43340015C=CA1165576527MPLc.742C= (p.Pro248=)
c.721C= (p.Pro241=)
n.742C=
c.913C= (p.Pro305=)
1g.43340015C>GCA339976557MPLc.742C>G (p.Pro248Ala)
c.721C>G (p.Pro241Ala)
n.742C>G
c.913C>G (p.Pro305Ala)
1g.43340015C>TCA339976562MPLc.742C>T (p.Pro248Ser)
c.721C>T (p.Pro241Ser)
n.742C>T
c.913C>T (p.Pro305Ser)
1g.43340016C>ACA339976567MPLc.743C>A (p.Pro248His)
c.722C>A (p.Pro241His)
n.743C>A
c.914C>A (p.Pro305His)
 dbSNP
1g.43340016C=CA1165576528MPLc.743C= (p.Pro248=)
c.722C= (p.Pro241=)
n.743C=
c.914C= (p.Pro305=)
1g.43340016C>GCA339976570MPLc.743C>G (p.Pro248Arg)
c.722C>G (p.Pro241Arg)
n.743C>G
c.914C>G (p.Pro305Arg)
 gnomAD v4
1g.43340016C>TCA339976573MPLc.743C>T (p.Pro248Leu)
c.722C>T (p.Pro241Leu)
n.743C>T
c.914C>T (p.Pro305Leu)
1g.43340016_43340020delinsCTGGCCA1148224241MPLc.743_747delinsCTGGC (p.Pro248=)
c.722_726delinsCTGGC (p.Pro241=)
n.743_747delinsCTGGC
c.914_918delinsCTGGC (p.Pro305=)
1g.43340017_43340020dupCA160837MPLc.744_747dup (p.Asn250TrpfsTer13)
c.723_726dup (p.Asn243TrpfsTer13)
n.744_747dup
c.915_918dup (p.Asn307TrpfsTer13)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43340017T>ACA417419448MPLc.744T>A (p.Pro248=)
c.723T>A (p.Pro241=)
n.744T>A
c.915T>A (p.Pro305=)
1g.43340017T>CCA417419451MPLc.744T>C (p.Pro248=)
c.723T>C (p.Pro241=)
n.744T>C
c.915T>C (p.Pro305=)
 gnomAD v4
1g.43340017T>GCA417419454MPLc.744T>G (p.Pro248=)
c.723T>G (p.Pro241=)
n.744T>G
c.915T>G (p.Pro305=)
1g.43340018G>ACA339976579MPLc.745G>A (p.Gly249Ser)
c.724G>A (p.Gly242Ser)
n.745G>A
c.916G>A (p.Gly306Ser)
 dbSNP
1g.43340018G>CCA339976583MPLc.745G>C (p.Gly249Arg)
c.724G>C (p.Gly242Arg)
n.745G>C
c.916G>C (p.Gly306Arg)
 dbSNP
1g.43340018G>TCA339976576MPLc.745G>T (p.Gly249Cys)
c.724G>T (p.Gly242Cys)
n.745G>T
c.916G>T (p.Gly306Cys)
1g.43340019G>ACA339976588MPLc.746G>A (p.Gly249Asp)
c.725G>A (p.Gly242Asp)
n.746G>A
c.917G>A (p.Gly306Asp)
1g.43340019G>CCA339976591MPLc.746G>C (p.Gly249Ala)
c.725G>C (p.Gly242Ala)
n.746G>C
c.917G>C (p.Gly306Ala)
1g.43340019G>TCA339976594MPLc.746G>T (p.Gly249Val)
c.725G>T (p.Gly242Val)
n.746G>T
c.917G>T (p.Gly306Val)
1g.43340020C>ACA417419472MPLc.747C>A (p.Gly249=)
c.726C>A (p.Gly242=)
n.747C>A
c.918C>A (p.Gly306=)
1g.43340020C>GCA417419475MPLc.747C>G (p.Gly249=)
c.726C>G (p.Gly242=)
n.747C>G
c.918C>G (p.Gly306=)
1g.43340020C>TCA417419478MPLc.747C>T (p.Gly249=)
c.726C>T (p.Gly242=)
n.747C>T
c.918C>T (p.Gly306=)
 dbSNP
1g.43340021A>CCA339976597MPLc.748A>C (p.Asn250His)
c.727A>C (p.Asn243His)
n.748A>C
c.919A>C (p.Asn307His)
1g.43340021A>GCA339976600MPLc.748A>G (p.Asn250Asp)
c.727A>G (p.Asn243Asp)
n.748A>G
c.919A>G (p.Asn307Asp)
1g.43340021A>TCA339976602MPLc.748A>T (p.Asn250Tyr)
c.727A>T (p.Asn243Tyr)
n.748A>T
c.919A>T (p.Asn307Tyr)
1g.43340022A>CCA339976607MPLc.749A>C (p.Asn250Thr)
c.728A>C (p.Asn243Thr)
n.749A>C
c.920A>C (p.Asn307Thr)
1g.43340022A>GCA339976610MPLc.749A>G (p.Asn250Ser)
c.728A>G (p.Asn243Ser)
n.749A>G
c.920A>G (p.Asn307Ser)
1g.43340022A>TCA339976615MPLc.749A>T (p.Asn250Ile)
c.728A>T (p.Asn243Ile)
n.749A>T
c.920A>T (p.Asn307Ile)
1g.43340023C>ACA339976620MPLc.750C>A (p.Asn250Lys)
c.729C>A (p.Asn243Lys)
n.750C>A
c.921C>A (p.Asn307Lys)
1g.43340023C=CA1165576529MPLc.750C= (p.Asn250=)
c.729C= (p.Asn243=)
n.750C=
c.921C= (p.Asn307=)
1g.43340023C>GCA339976622MPLc.750C>G (p.Asn250Lys)
c.729C>G (p.Asn243Lys)
n.750C>G
c.921C>G (p.Asn307Lys)
 dbSNP
1g.43340023C>TCA806739MPLc.750C>T (p.Asn250=)
c.729C>T (p.Asn243=)
n.750C>T
c.921C>T (p.Asn307=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.43340024T>ACA339976634MPLc.751T>A (p.Ser251Thr)
c.730T>A (p.Ser244Thr)
n.751T>A
c.922T>A (p.Ser308Thr)
1g.43340024T>CCA806740MPLc.751T>C (p.Ser251Pro)
c.730T>C (p.Ser244Pro)
n.751T>C
c.922T>C (p.Ser308Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43340024T>GCA339976626MPLc.751T>G (p.Ser251Ala)
c.730T>G (p.Ser244Ala)
n.751T>G
c.922T>G (p.Ser308Ala)
1g.43340024T=CA1165576530MPLc.751T= (p.Ser251=)
c.730T= (p.Ser244=)
n.751T=
c.922T= (p.Ser308=)
1g.43340025C>ACA339976657MPLc.752C>A (p.Ser251Tyr)
c.731C>A (p.Ser244Tyr)
n.752C>A
c.923C>A (p.Ser308Tyr)
1g.43340025C>GCA339976659MPLc.752C>G (p.Ser251Cys)
c.731C>G (p.Ser244Cys)
n.752C>G
c.923C>G (p.Ser308Cys)
1g.43340025C>TCA339976661MPLc.752C>T (p.Ser251Phe)
c.731C>T (p.Ser244Phe)
n.752C>T
c.923C>T (p.Ser308Phe)
1g.43340026C>ACA417419535MPLc.753C>A (p.Ser251=)
c.732C>A (p.Ser244=)
n.753C>A
c.924C>A (p.Ser308=)
1g.43340026C>GCA417419537MPLc.753C>G (p.Ser251=)
c.732C>G (p.Ser244=)
n.753C>G
c.924C>G (p.Ser308=)
1g.43340026C>TCA417419542MPLc.753C>T (p.Ser251=)
c.732C>T (p.Ser244=)
n.753C>T
c.924C>T (p.Ser308=)
 dbSNP gnomAD v4
1g.43340027T>ACA339976662MPLc.754T>A (p.Tyr252Asn)
c.733T>A (p.Tyr245Asn)
n.754T>A
c.925T>A (p.Tyr309Asn)
1g.43340027T>CCA160844MPLc.754T>C (p.Tyr252His)
c.733T>C (p.Tyr245His)
n.754T>C
c.925T>C (p.Tyr309His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.43340027T>GCA339976665MPLc.754T>G (p.Tyr252Asp)
c.733T>G (p.Tyr245Asp)
n.754T>G
c.925T>G (p.Tyr309Asp)
1g.43340027T=CA1141797076MPLc.754T= (p.Tyr252=)
c.733T= (p.Tyr245=)
n.754T=
c.925T= (p.Tyr309=)
1g.43340028A>CCA339976667MPLc.755A>C (p.Tyr252Ser)
c.734A>C (p.Tyr245Ser)
n.755A>C
c.926A>C (p.Tyr309Ser)
1g.43340028A>GCA339976668MPLc.755A>G (p.Tyr252Cys)
c.734A>G (p.Tyr245Cys)
n.755A>G
c.926A>G (p.Tyr309Cys)
1g.43340028A>TCA339976670MPLc.755A>T (p.Tyr252Phe)
c.734A>T (p.Tyr245Phe)
n.755A>T
c.926A>T (p.Tyr309Phe)
1g.43340029C>ACA339976672MPLc.756C>A (p.Tyr252Ter)
c.735C>A (p.Tyr245Ter)
n.756C>A
c.927C>A (p.Tyr309Ter)
 ClinVar dbSNP
1g.43340029C=CA1165576531MPLc.756C= (p.Tyr252=)
c.735C= (p.Tyr245=)
n.756C=
c.927C= (p.Tyr309=)
1g.43340029C>GCA339976675MPLc.756C>G (p.Tyr252Ter)
c.735C>G (p.Tyr245Ter)
n.756C>G
c.927C>G (p.Tyr309Ter)
1g.43340029C>TCA417419559MPLc.756C>T (p.Tyr252=)
c.735C>T (p.Tyr245=)
n.756C>T
c.927C>T (p.Tyr309=)
1g.43340030T>ACA339976677MPLc.757T>A (p.Trp253Arg)
c.736T>A (p.Trp246Arg)
n.757T>A
c.928T>A (p.Trp310Arg)
 dbSNP gnomAD v4
1g.43340030T>CCA806741MPLc.757T>C (p.Trp253Arg)
c.736T>C (p.Trp246Arg)
n.757T>C
c.928T>C (p.Trp310Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.43340030T>GCA339976680MPLc.757T>G (p.Trp253Gly)
c.736T>G (p.Trp246Gly)
n.757T>G
c.928T>G (p.Trp310Gly)
1g.43340030T=CA1148262070MPLc.757T= (p.Trp253=)
c.736T= (p.Trp246=)
n.757T=
c.928T= (p.Trp310=)
1g.43340031G>ACA339976684MPLc.758G>A (p.Trp253Ter)
c.737G>A (p.Trp246Ter)
n.758G>A
c.929G>A (p.Trp310Ter)
 ClinVar dbSNP COSMIC COSMIC
1g.43340031G>CCA339976686MPLc.758G>C (p.Trp253Ser)
c.737G>C (p.Trp246Ser)
n.758G>C
c.929G>C (p.Trp310Ser)
1g.43340031G=CA1165576532MPLc.758G= (p.Trp253=)
c.737G= (p.Trp246=)
n.758G=
c.929G= (p.Trp310=)
1g.43340031G>TCA339976682MPLc.758G>T (p.Trp253Leu)
c.737G>T (p.Trp246Leu)
n.758G>T
c.929G>T (p.Trp310Leu)
1g.43340032G>ACA339976688MPLc.759G>A (p.Trp253Ter)
c.738G>A (p.Trp246Ter)
n.759G>A
c.930G>A (p.Trp310Ter)
 dbSNP gnomAD v4
1g.43340032G>CCA339976689MPLc.759G>C (p.Trp253Cys)
c.738G>C (p.Trp246Cys)
n.759G>C
c.930G>C (p.Trp310Cys)
1g.43340032G>TCA339976691MPLc.759G>T (p.Trp253Cys)
c.738G>T (p.Trp246Cys)
n.759G>T
c.930G>T (p.Trp310Cys)
1g.43340033C>ACA339976693MPLc.760C>A (p.Leu254Met)
c.739C>A (p.Leu247Met)
n.760C>A
c.931C>A (p.Leu311Met)
1g.43340033C>GCA339976695MPLc.760C>G (p.Leu254Val)
c.739C>G (p.Leu247Val)
n.760C>G
c.931C>G (p.Leu311Val)
1g.43340033C>TCA417419603MPLc.760C>T (p.Leu254=)
c.739C>T (p.Leu247=)
n.760C>T
c.931C>T (p.Leu311=)
1g.43340034T>ACA339976697MPLc.761T>A (p.Leu254Gln)
c.740T>A (p.Leu247Gln)
n.761T>A
c.932T>A (p.Leu311Gln)
1g.43340034T>CCA339976699MPLc.761T>C (p.Leu254Pro)
c.740T>C (p.Leu247Pro)
n.761T>C
c.932T>C (p.Leu311Pro)
 ClinVar
1g.43340034T>GCA339976701MPLc.761T>G (p.Leu254Arg)
c.740T>G (p.Leu247Arg)
n.761T>G
c.932T>G (p.Leu311Arg)
 gnomAD v4
1g.43340035G>ACA417419617MPLc.762G>A (p.Leu254=)
c.741G>A (p.Leu247=)
n.762G>A
c.933G>A (p.Leu311=)
 dbSNP
1g.43340035G>CCA417419619MPLc.762G>C (p.Leu254=)
c.741G>C (p.Leu247=)
n.762G>C
c.933G>C (p.Leu311=)
1g.43340035G>TCA417419623MPLc.762G>T (p.Leu254=)
c.741G>T (p.Leu247=)
n.762G>T
c.933G>T (p.Leu311=)
1g.43340036C>ACA339976703MPLc.763C>A (p.Gln255Lys)
c.742C>A (p.Gln248Lys)
n.763C>A
c.934C>A (p.Gln312Lys)
1g.43340036C=CA1165576533MPLc.763C= (p.Gln255=)
c.742C= (p.Gln248=)
n.763C=
c.934C= (p.Gln312=)
1g.43340036C>GCA806742MPLc.763C>G (p.Gln255Glu)
c.742C>G (p.Gln248Glu)
n.763C>G
c.934C>G (p.Gln312Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43340036C>TCA339976705MPLc.763C>T (p.Gln255Ter)
c.742C>T (p.Gln248Ter)
n.763C>T
c.934C>T (p.Gln312Ter)
 ClinVar dbSNP gnomAD v4
1g.43340037A=CA1165576534MPLc.764A= (p.Gln255=)
c.743A= (p.Gln248=)
n.764A=
c.935A= (p.Gln312=)
1g.43340037A>CCA339976707MPLc.764A>C (p.Gln255Pro)
c.743A>C (p.Gln248Pro)
n.764A>C
c.935A>C (p.Gln312Pro)
1g.43340037A>GCA339976709MPLc.764A>G (p.Gln255Arg)
c.743A>G (p.Gln248Arg)
n.764A>G
c.935A>G (p.Gln312Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.43340037A>TCA339976711MPLc.764A>T (p.Gln255Leu)
c.743A>T (p.Gln248Leu)
n.764A>T
c.935A>T (p.Gln312Leu)
1g.43340038G>ACA417419641MPLc.765G>A (p.Gln255=)
c.744G>A (p.Gln248=)
n.765G>A
c.936G>A (p.Gln312=)
1g.43340038G>CCA339976713MPLc.765G>C (p.Gln255His)
c.744G>C (p.Gln248His)
n.765G>C
c.936G>C (p.Gln312His)
1g.43340038G>TCA339976715MPLc.765G>T (p.Gln255His)
c.744G>T (p.Gln248His)
n.765G>T
c.936G>T (p.Gln312His)
1g.43340039C>ACA339976717MPLc.766C>A (p.Leu256Met)
c.745C>A (p.Leu249Met)
n.766C>A
c.937C>A (p.Leu313Met)
1g.43340039C>GCA339976720MPLc.766C>G (p.Leu256Val)
c.745C>G (p.Leu249Val)
n.766C>G
c.937C>G (p.Leu313Val)
1g.43340039C>TCA417419654MPLc.766C>T (p.Leu256=)
c.745C>T (p.Leu249=)
n.766C>T
c.937C>T (p.Leu313=)
1g.43340040T>ACA339976722MPLc.767T>A (p.Leu256Gln)
c.746T>A (p.Leu249Gln)
n.767T>A
c.938T>A (p.Leu313Gln)
 gnomAD v4
1g.43340040T>CCA339976724MPLc.767T>C (p.Leu256Pro)
c.746T>C (p.Leu249Pro)
n.767T>C
c.938T>C (p.Leu313Pro)
 gnomAD v4
1g.43340040T>GCA339976725MPLc.767T>G (p.Leu256Arg)
c.746T>G (p.Leu249Arg)
n.767T>G
c.938T>G (p.Leu313Arg)
1g.43340040dupCA2574340830MPLc.767dup (p.Arg257AlafsTer5)
c.746dup (p.Arg250AlafsTer5)
n.767dup
c.938dup (p.Arg314AlafsTer5)
1g.43340041G>ACA417419663MPLc.768G>A (p.Leu256=)
c.747G>A (p.Leu249=)
n.768G>A
c.939G>A (p.Leu313=)
 ClinVar dbSNP gnomAD v4
1g.43340041G>CCA417419666MPLc.768G>C (p.Leu256=)
c.747G>C (p.Leu249=)
n.768G>C
c.939G>C (p.Leu313=)
1g.43340041G=CA1165576535MPLc.768G= (p.Leu256=)
c.747G= (p.Leu249=)
n.768G=
c.939G= (p.Leu313=)
1g.43340041G>TCA417419670MPLc.768G>T (p.Leu256=)
c.747G>T (p.Leu249=)
n.768G>T
c.939G>T (p.Leu313=)
1g.43340042C>ACA339976728MPLc.769C>A (p.Arg257Ser)
c.748C>A (p.Arg250Ser)
n.769C>A
c.940C>A (p.Arg314Ser)
1g.43340042C=CA1141580748MPLc.769C= (p.Arg257=)
c.748C= (p.Arg250=)
n.769C=
c.940C= (p.Arg314=)
1g.43340042C>GCA339976731MPLc.769C>G (p.Arg257Gly)
c.748C>G (p.Arg250Gly)
n.769C>G
c.940C>G (p.Arg314Gly)
1g.43340042C>TCA123774MPLc.769C>T (p.Arg257Cys)
c.748C>T (p.Arg250Cys)
n.769C>T
c.940C>T (p.Arg314Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.43340043G>ACA21607965MPLc.770G>A (p.Arg257His)
c.749G>A (p.Arg250His)
n.770G>A
c.941G>A (p.Arg314His)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.43340043G>CCA339976735MPLc.770G>C (p.Arg257Pro)
c.749G>C (p.Arg250Pro)
n.770G>C
c.941G>C (p.Arg314Pro)
1g.43340043G=CA1165576536MPLc.770G= (p.Arg257=)
c.749G= (p.Arg250=)
n.770G=
c.941G= (p.Arg314=)
1g.43340043G>TCA339976737MPLc.770G>T (p.Arg257Leu)
c.749G>T (p.Arg250Leu)
n.770G>T
c.941G>T (p.Arg314Leu)
1g.43340044C>ACA417419691MPLc.771C>A (p.Arg257=)
c.750C>A (p.Arg250=)
n.771C>A
c.942C>A (p.Arg314=)
 ClinVar dbSNP
1g.43340044C=CA1165576537MPLc.771C= (p.Arg257=)
c.750C= (p.Arg250=)
n.771C=
c.942C= (p.Arg314=)
1g.43340044C>GCA417419695MPLc.771C>G (p.Arg257=)
c.750C>G (p.Arg250=)
n.771C>G
c.942C>G (p.Arg314=)
1g.43340044C>TCA417419701MPLc.771C>T (p.Arg257=)
c.750C>T (p.Arg250=)
n.771C>T
c.942C>T (p.Arg314=)
1g.43340045A>CCA339976743MPLc.772A>C (p.Ser258Arg)
c.751A>C (p.Ser251Arg)
n.772A>C
c.943A>C (p.Ser315Arg)
1g.43340045A>GCA339976741MPLc.772A>G (p.Ser258Gly)
c.751A>G (p.Ser251Gly)
n.772A>G
c.943A>G (p.Ser315Gly)
1g.43340045A>TCA339976739MPLc.772A>T (p.Ser258Cys)
c.751A>T (p.Ser251Cys)
n.772A>T
c.943A>T (p.Ser315Cys)
1g.43340046G>ACA339976745MPLc.773G>A (p.Ser258Asn)
c.752G>A (p.Ser251Asn)
n.773G>A
c.944G>A (p.Ser315Asn)
 dbSNP gnomAD v4
1g.43340046G>CCA339976749MPLc.773G>C (p.Ser258Thr)
c.752G>C (p.Ser251Thr)
n.773G>C
c.944G>C (p.Ser315Thr)
1g.43340046G=CA1165576538MPLc.773G= (p.Ser258=)
c.752G= (p.Ser251=)
n.773G=
c.944G= (p.Ser315=)
1g.43340046G>TCA339976747MPLc.773G>T (p.Ser258Ile)
c.752G>T (p.Ser251Ile)
n.773G>T
c.944G>T (p.Ser315Ile)
1g.43340047C>ACA339976752MPLc.774C>A (p.Ser258Arg)
c.753C>A (p.Ser251Arg)
n.774C>A
c.945C>A (p.Ser315Arg)
 gnomAD v4
1g.43340047C=CA1148408113MPLc.774C= (p.Ser258=)
c.753C= (p.Ser251=)
n.774C=
c.945C= (p.Ser315=)
1g.43340047C>GCA339976753MPLc.774C>G (p.Ser258Arg)
c.753C>G (p.Ser251Arg)
n.774C>G
c.945C>G (p.Ser315Arg)
1g.43340047C>TCA806743MPLc.774C>T (p.Ser258=)
c.753C>T (p.Ser251=)
n.774C>T
c.945C>T (p.Ser315=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.43340048G>ACA806744MPLc.775G>A (p.Glu259Lys)
c.754G>A (p.Glu252Lys)
n.775G>A
c.946G>A (p.Glu316Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43340048G>CCA339976757MPLc.775G>C (p.Glu259Gln)
c.754G>C (p.Glu252Gln)
n.775G>C
c.946G>C (p.Glu316Gln)
1g.43340048G=CA1144354585MPLc.775G= (p.Glu259=)
c.754G= (p.Glu252=)
n.775G=
c.946G= (p.Glu316=)
1g.43340048G>TCA339976759MPLc.775G>T (p.Glu259Ter)
c.754G>T (p.Glu252Ter)
n.775G>T
c.946G>T (p.Glu316Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.43340049A>CCA339976765MPLc.776A>C (p.Glu259Ala)
c.755A>C (p.Glu252Ala)
n.776A>C
c.947A>C (p.Glu316Ala)
1g.43340049A>GCA339976761MPLc.776A>G (p.Glu259Gly)
c.755A>G (p.Glu252Gly)
n.776A>G
c.947A>G (p.Glu316Gly)
1g.43340049A>TCA339976763MPLc.776A>T (p.Glu259Val)
c.755A>T (p.Glu252Val)
n.776A>T
c.947A>T (p.Glu316Val)
1g.43340050A>CCA339976767MPLc.777A>C (p.Glu259Asp)
c.756A>C (p.Glu252Asp)
n.777A>C
c.948A>C (p.Glu316Asp)
1g.43340050A>GCA417419757MPLc.777A>G (p.Glu259=)
c.756A>G (p.Glu252=)
n.777A>G
c.948A>G (p.Glu316=)
 COSMIC COSMIC
1g.43340050A>TCA339976769MPLc.777A>T (p.Glu259Asp)
c.756A>T (p.Glu252Asp)
n.777A>T
c.948A>T (p.Glu316Asp)
1g.43340051C>ACA339976771MPLc.778C>A (p.Pro260Thr)
c.757C>A (p.Pro253Thr)
n.778C>A
c.949C>A (p.Pro317Thr)
1g.43340051C>GCA339976773MPLc.778C>G (p.Pro260Ala)
c.757C>G (p.Pro253Ala)
n.778C>G
c.949C>G (p.Pro317Ala)
1g.43340051C>TCA339976775MPLc.778C>T (p.Pro260Ser)
c.757C>T (p.Pro253Ser)
n.778C>T
c.949C>T (p.Pro317Ser)
1g.43340052C>ACA339976777MPLc.779C>A (p.Pro260His)
c.758C>A (p.Pro253His)
n.779C>A
c.950C>A (p.Pro317His)
1g.43340052C=CA1165576539MPLc.779C= (p.Pro260=)
c.758C= (p.Pro253=)
n.779C=
c.950C= (p.Pro317=)
1g.43340052C>GCA339976781MPLc.779C>G (p.Pro260Arg)
c.758C>G (p.Pro253Arg)
n.779C>G
c.950C>G (p.Pro317Arg)
1g.43340052C>TCA339976779MPLc.779C>T (p.Pro260Leu)
c.758C>T (p.Pro253Leu)
n.779C>T
c.950C>T (p.Pro317Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43340053T>ACA417419776MPLc.780T>A (p.Pro260=)
c.759T>A (p.Pro253=)
n.780T>A
c.951T>A (p.Pro317=)
1g.43340053T>CCA417419777MPLc.780T>C (p.Pro260=)
c.759T>C (p.Pro253=)
n.780T>C
c.951T>C (p.Pro317=)
1g.43340053T>GCA417419780MPLc.780T>G (p.Pro260=)
c.759T>G (p.Pro253=)
n.780T>G
c.951T>G (p.Pro317=)
1g.43340054G>ACA339976782MPLc.781G>A (p.Asp261Asn)
c.760G>A (p.Asp254Asn)
n.781G>A
c.952G>A (p.Asp318Asn)
1g.43340054G>CCA339976784MPLc.781G>C (p.Asp261His)
c.760G>C (p.Asp254His)
n.781G>C
c.952G>C (p.Asp318His)
 dbSNP
1g.43340054G=CA1165576540MPLc.781G= (p.Asp261=)
c.760G= (p.Asp254=)
n.781G=
c.952G= (p.Asp318=)
1g.43340054G>TCA339976785MPLc.781G>T (p.Asp261Tyr)
c.760G>T (p.Asp254Tyr)
n.781G>T
c.952G>T (p.Asp318Tyr)
 dbSNP
1g.43340055A=CA1165576541MPLc.782A= (p.Asp261=)
c.761A= (p.Asp254=)
n.782A=
c.953A= (p.Asp318=)
1g.43340055A>CCA339976787MPLc.782A>C (p.Asp261Ala)
c.761A>C (p.Asp254Ala)
n.782A>C
c.953A>C (p.Asp318Ala)
1g.43340055A>GCA339976789MPLc.782A>G (p.Asp261Gly)
c.761A>G (p.Asp254Gly)
n.782A>G
c.953A>G (p.Asp318Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.43340055A>TCA806745MPLc.782A>T (p.Asp261Val)
c.761A>T (p.Asp254Val)
n.782A>T
c.953A>T (p.Asp318Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43340056T>ACA806746MPLc.783T>A (p.Asp261Glu)
c.762T>A (p.Asp254Glu)
n.783T>A
c.954T>A (p.Asp318Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43340056T>CCA417419804MPLc.783T>C (p.Asp261=)
c.762T>C (p.Asp254=)
n.783T>C
c.954T>C (p.Asp318=)
 ClinVar dbSNP gnomAD v4
1g.43340056T>GCA339976792MPLc.783T>G (p.Asp261Glu)
c.762T>G (p.Asp254Glu)
n.783T>G
c.954T>G (p.Asp318Glu)
1g.43340056T=CA1149133404MPLc.783T= (p.Asp261=)
c.762T= (p.Asp254=)
n.783T=
c.954T= (p.Asp318=)
1g.43340057G>ACA339976794MPLc.784G>A (p.Gly262Arg)
c.763G>A (p.Gly255Arg)
n.784G>A
c.955G>A (p.Gly319Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.43340057G>CCA339976796MPLc.784G>C (p.Gly262Arg)
c.763G>C (p.Gly255Arg)
n.784G>C
c.955G>C (p.Gly319Arg)
1g.43340057G=CA1165576542MPLc.784G= (p.Gly262=)
c.763G= (p.Gly255=)
n.784G=
c.955G= (p.Gly319=)
1g.43340057G>TCA339976798MPLc.784G>T (p.Gly262Trp)
c.763G>T (p.Gly255Trp)
n.784G>T
c.955G>T (p.Gly319Trp)
1g.43340058G>ACA339976800MPLc.785G>A (p.Gly262Glu)
c.764G>A (p.Gly255Glu)
n.785G>A
c.956G>A (p.Gly319Glu)
 gnomAD v4
1g.43340058G>CCA339976804MPLc.785G>C (p.Gly262Ala)
c.764G>C (p.Gly255Ala)
n.785G>C
c.956G>C (p.Gly319Ala)
1g.43340058G>TCA339976802MPLc.785G>T (p.Gly262Val)
c.764G>T (p.Gly255Val)
n.785G>T
c.956G>T (p.Gly319Val)

Number of alleles fetched