Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.81868598_81869033delinsCACAGGCAGAAGCAGCAACGAGACAGGAGACA2697555263ARHGDIAc.458_*278delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG (n.[c.458_*278delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG;Ala153ValfsTer?])
c.416-90_*278delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG
c.458_503-14delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG
c.435+23_781delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG
c.593_*278delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG (n.[c.593_*278delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG;Ala198ValfsTer?])
n.517_952delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG
n.448_883delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG
 ClinVar
17g.81868831_81868858delCA2576427328ARHGDIAc.*22_*49del (n.*22_*49del)
c.502+135_502+162del (n.502+135_502+162del)
c.525_552del (p.Gln176GlyfsTer?)
n.696_723del
n.627_654del
 gnomAD v4
17g.81868853G>ACA8843184ARHGDIAc.*23C>T (n.*23C>T)
c.502+136C>T (n.502+136C>T)
c.526C>T (p.Gln176Ter)
n.697C>T
n.628C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81868853G>CCA401522990ARHGDIAc.*23C>G (n.*23C>G)
c.502+136C>G (n.502+136C>G)
c.526C>G (p.Gln176Glu)
n.697C>G
n.628C>G
17g.81868853G=CA2278712653ARHGDIAc.*23C= (n.*23C=)
c.502+136C= (n.502+136C=)
c.526C= (p.Gln176=)
n.697C=
n.628C=
17g.81868853G>TCA401522991ARHGDIAc.*23C>A (n.*23C>A)
c.502+136C>A (n.502+136C>A)
c.526C>A (p.Gln176Lys)
n.697C>A
n.628C>A
 gnomAD v4
17g.81868854C=CA2278712654ARHGDIAc.*22G= (n.*22G=)
c.502+135G= (n.502+135G=)
c.525G= (p.Gly175=)
n.696G=
n.627G=
17g.81868854C>TCA628024162ARHGDIAc.*22G>A (n.*22G>A)
c.502+135G>A (n.502+135G>A)
c.525G>A (p.Gly175=)
n.696G>A
n.627G>A
 dbSNP gnomAD v2 gnomAD v4
17g.81868855C>ACA401522993ARHGDIAc.*21G>T (n.*21G>T)
c.502+134G>T (n.502+134G>T)
c.524G>T (p.Gly175Val)
n.695G>T
n.626G>T
 dbSNP
17g.81868855C=CA2278712655ARHGDIAc.*21G= (n.*21G=)
c.502+134G= (n.502+134G=)
c.524G= (p.Gly175=)
n.695G=
n.626G=
17g.81868855C>GCA401522997ARHGDIAc.*21G>C (n.*21G>C)
c.502+134G>C (n.502+134G>C)
c.524G>C (p.Gly175Ala)
n.695G>C
n.626G>C
17g.81868855C>TCA401522995ARHGDIAc.*21G>A (n.*21G>A)
c.502+134G>A (n.502+134G>A)
c.524G>A (p.Gly175Glu)
n.695G>A
n.626G>A
17g.81868856C>ACA401523000ARHGDIAc.*20G>T (n.*20G>T)
c.502+133G>T (n.502+133G>T)
c.523G>T (p.Gly175Trp)
n.694G>T
n.625G>T
17g.81868856C>GCA401523003ARHGDIAc.*20G>C (n.*20G>C)
c.502+133G>C (n.502+133G>C)
c.523G>C (p.Gly175Arg)
n.694G>C
n.625G>C
17g.81868856C>TCA401523006ARHGDIAc.*20G>A (n.*20G>A)
c.502+133G>A (n.502+133G>A)
c.523G>A (p.Gly175Arg)
n.694G>A
n.625G>A
17g.81868857T>CCA295137539ARHGDIAc.*19A>G (n.*19A>G)
c.502+132A>G (n.502+132A>G)
c.522A>G (p.Ala174=)
n.693A>G
n.624A>G
 dbSNP
17g.81868857T=CA2278712656ARHGDIAc.*19A= (n.*19A=)
c.502+132A= (n.502+132A=)
c.522A= (p.Ala174=)
n.693A=
n.624A=
17g.81868858G>ACA401523009ARHGDIAc.*18C>T (n.*18C>T)
c.502+131C>T (n.502+131C>T)
c.521C>T (p.Ala174Val)
n.692C>T
n.623C>T
17g.81868858G>CCA401523012ARHGDIAc.*18C>G (n.*18C>G)
c.502+131C>G (n.502+131C>G)
c.521C>G (p.Ala174Gly)
n.692C>G
n.623C>G
17g.81868858G=CA2278712657ARHGDIAc.*18C= (n.*18C=)
c.502+131C= (n.502+131C=)
c.521C= (p.Ala174=)
n.692C=
n.623C=
17g.81868858G>TCA401523015ARHGDIAc.*18C>A (n.*18C>A)
c.502+131C>A (n.502+131C>A)
c.521C>A (p.Ala174Glu)
n.692C>A
n.623C>A
 dbSNP gnomAD v2
17g.81868859C>ACA401523018ARHGDIAc.*17G>T (n.*17G>T)
c.502+130G>T (n.502+130G>T)
c.520G>T (p.Ala174Ser)
n.691G>T
n.622G>T
17g.81868859C=CA2278712658ARHGDIAc.*17G= (n.*17G=)
c.502+130G= (n.502+130G=)
c.520G= (p.Ala174=)
n.691G=
n.622G=
17g.81868859C>GCA8843185ARHGDIAc.*17G>C (n.*17G>C)
c.502+130G>C (n.502+130G>C)
c.520G>C (p.Ala174Pro)
n.691G>C
n.622G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81868859C>TCA401523022ARHGDIAc.*17G>A (n.*17G>A)
c.502+130G>A (n.502+130G>A)
c.520G>A (p.Ala174Thr)
n.691G>A
n.622G>A
17g.81868859_81868860insTCA656896014ARHGDIAc.*16_*17insA (n.*16_*17insA)
c.502+129_502+130insA (n.502+129_502+130insA)
c.519_520insA (p.Ala174SerfsTer5)
n.690_691insA
n.621_622insA
 COSMIC
17g.81868860C>TCA2640523155ARHGDIAc.*16G>A (n.*16G>A)
c.502+129G>A (n.502+129G>A)
c.519G>A (p.Arg173=)
n.690G>A
n.621G>A
 gnomAD v4
17g.81868861C>ACA401523026ARHGDIAc.*15G>T (n.*15G>T)
c.502+128G>T (n.502+128G>T)
c.518G>T (p.Arg173Leu)
n.689G>T
n.620G>T
 gnomAD v4
17g.81868861C=CA2278712659ARHGDIAc.*15G= (n.*15G=)
c.502+128G= (n.502+128G=)
c.518G= (p.Arg173=)
n.689G=
n.620G=
17g.81868861C>GCA401523028ARHGDIAc.*15G>C (n.*15G>C)
c.502+128G>C (n.502+128G>C)
c.518G>C (p.Arg173Pro)
n.689G>C
n.620G>C
 dbSNP gnomAD v4
17g.81868861C>TCA8843186ARHGDIAc.*15G>A (n.*15G>A)
c.502+128G>A (n.502+128G>A)
c.518G>A (p.Arg173Gln)
n.689G>A
n.620G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81868862_81868863insGGGCCCCACTCACTCTTGACGCA986873058ARHGDIAc.*15_*16insTCAAGAGTGAGTGGGGCCCCG (n.*15_*16insTCAAGAGTGAGTGGGGCCCCG)
c.502+128_502+129insTCAAGAGTGAGTGGGGCCCCG (n.502+128_502+129insTCAAGAGTGAGTGGGGCCCCG)
c.518_519insTCAAGAGTGAGTGGGGCCCCG (p.Arg174GlnfsTer3)
n.689_690insTCAAGAGTGAGTGGGGCCCCG
n.620_621insTCAAGAGTGAGTGGGGCCCCG
 gnomAD v3 gnomAD v4
17g.81868861_81868862insTCA656896016ARHGDIAc.*14_*15insA (n.*14_*15insA)
c.502+127_502+128insA (n.502+127_502+128insA)
c.517_518insA (p.Arg173GlnfsTer6)
n.688_689insA
n.619_620insA
17g.81868862G>ACA8843187ARHGDIAc.*14C>T (n.*14C>T)
c.502+127C>T (n.502+127C>T)
c.517C>T (p.Arg173Trp)
n.688C>T
n.619C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81868862G>CCA401523034ARHGDIAc.*14C>G (n.*14C>G)
c.502+127C>G (n.502+127C>G)
c.517C>G (p.Arg173Gly)
n.688C>G
n.619C>G
17g.81868862G=CA2278712660ARHGDIAc.*14C= (n.*14C=)
c.502+127C= (n.502+127C=)
c.517C= (p.Arg173=)
n.688C=
n.619C=
17g.81868862_81868863insGGGCA986873064ARHGDIAc.*14_*15insCCC (n.*14_*15insCCC)
c.502+127_502+128insCCC (n.502+127_502+128insCCC)
c.517_518insCCC (p.Arg172_Arg173insPro)
n.688_689insCCC
n.619_620insCCC
 gnomAD v3 gnomAD v4
17g.81868863C>ACA401523038ARHGDIAc.*13G>T (n.*13G>T)
c.502+126G>T (n.502+126G>T)
c.516G>T (p.Arg172Ser)
n.687G>T
n.618G>T
17g.81868863C>GCA401523040ARHGDIAc.*13G>C (n.*13G>C)
c.502+126G>C (n.502+126G>C)
c.516G>C (p.Arg172Ser)
n.687G>C
n.618G>C
17g.81868864C>ACA401523045ARHGDIAc.*12G>T (n.*12G>T)
c.502+125G>T (n.502+125G>T)
c.515G>T (p.Arg172Met)
n.686G>T
n.617G>T
17g.81868864C>GCA401523048ARHGDIAc.*12G>C (n.*12G>C)
c.502+125G>C (n.502+125G>C)
c.515G>C (p.Arg172Thr)
n.686G>C
n.617G>C
17g.81868864C>TCA401523051ARHGDIAc.*12G>A (n.*12G>A)
c.502+125G>A (n.502+125G>A)
c.515G>A (p.Arg172Lys)
n.686G>A
n.617G>A
17g.81868864_81868865insCCACTCACCA986873069ARHGDIAc.*12_*13insTGAGTGGG (n.*12_*13insTGAGTGGG)
c.502+125_502+126insTGAGTGGG (n.502+125_502+126insTGAGTGGG)
c.515_516insTGAGTGGG (p.Arg172SerfsTer?)
n.686_687insTGAGTGGG
n.617_618insTGAGTGGG
 gnomAD v3 gnomAD v4
17g.81868865T>ACA401523052ARHGDIAc.*11A>T (n.*11A>T)
c.502+124A>T (n.502+124A>T)
c.514A>T (p.Arg172Trp)
n.685A>T
n.616A>T
17g.81868865T>CCA401523054ARHGDIAc.*11A>G (n.*11A>G)
c.502+124A>G (n.502+124A>G)
c.514A>G (p.Arg172Gly)
n.685A>G
n.616A>G
17g.81868866C>ACA401523057ARHGDIAc.*10G>T (n.*10G>T)
c.502+123G>T (n.502+123G>T)
c.513G>T (p.Gln171His)
n.684G>T
n.615G>T
17g.81868866C>GCA401523059ARHGDIAc.*10G>C (n.*10G>C)
c.502+123G>C (n.502+123G>C)
c.513G>C (p.Gln171His)
n.684G>C
n.615G>C
 gnomAD v4
17g.81868867T>ACA401523062ARHGDIAc.*9A>T (n.*9A>T)
c.502+122A>T (n.502+122A>T)
c.512A>T (p.Gln171Leu)
n.683A>T
n.614A>T
17g.81868867T>CCA401523064ARHGDIAc.*9A>G (n.*9A>G)
c.502+122A>G (n.502+122A>G)
c.512A>G (p.Gln171Arg)
n.683A>G
n.614A>G
17g.81868867T>GCA401523068ARHGDIAc.*9A>C (n.*9A>C)
c.502+122A>C (n.502+122A>C)
c.512A>C (p.Gln171Pro)
n.683A>C
n.614A>C
17g.81868868G>ACA401523078ARHGDIAc.*8C>T (n.*8C>T)
c.502+121C>T (n.502+121C>T)
c.511C>T (p.Gln171Ter)
n.682C>T
n.613C>T
17g.81868868G>CCA401523075ARHGDIAc.*8C>G (n.*8C>G)
c.502+121C>G (n.502+121C>G)
c.511C>G (p.Gln171Glu)
n.682C>G
n.613C>G
17g.81868868G=CA2278712661ARHGDIAc.*8C= (n.*8C=)
c.502+121C= (n.502+121C=)
c.511C= (p.Gln171=)
n.682C=
n.613C=
17g.81868868G>TCA8843188ARHGDIAc.*8C>A (n.*8C>A)
c.502+121C>A (n.502+121C>A)
c.511C>A (p.Gln171Lys)
n.682C>A
n.613C>A
 dbSNP ExAC gnomAD v2
17g.81868869G>CCA401523083ARHGDIAc.*7C>G (n.*7C>G)
c.502+120C>G (n.502+120C>G)
c.510C>G (p.Ser170Arg)
n.681C>G
n.612C>G
17g.81868869G>TCA401523081ARHGDIAc.*7C>A (n.*7C>A)
c.502+120C>A (n.502+120C>A)
c.510C>A (p.Ser170Arg)
n.681C>A
n.612C>A
17g.81868870C>ACA401523092ARHGDIAc.*6G>T (n.*6G>T)
c.502+119G>T (n.502+119G>T)
n.823G>T
c.509G>T (p.Ser170Ile)
n.680G>T
n.611G>T
17g.81868870C=CA2278712662ARHGDIAc.*6G= (n.*6G=)
c.502+119G= (n.502+119G=)
n.823G=
c.509G= (p.Ser170=)
n.680G=
n.611G=
17g.81868870C>GCA401523087ARHGDIAc.*6G>C (n.*6G>C)
c.502+119G>C (n.502+119G>C)
n.823G>C
c.509G>C (p.Ser170Thr)
n.680G>C
n.611G>C
17g.81868870C>TCA401523089ARHGDIAc.*6G>A (n.*6G>A)
c.502+119G>A (n.502+119G>A)
n.823G>A
c.509G>A (p.Ser170Asn)
n.680G>A
n.611G>A
 dbSNP gnomAD v2 gnomAD v4
17g.81868871T>ACA401523094ARHGDIAc.*5A>T (n.*5A>T)
c.502+118A>T (n.502+118A>T)
n.822A>T
c.508A>T (p.Ser170Cys)
n.679A>T
n.610A>T
17g.81868871T>CCA401523096ARHGDIAc.*5A>G (n.*5A>G)
c.502+118A>G (n.502+118A>G)
n.822A>G
c.508A>G (p.Ser170Gly)
n.679A>G
n.610A>G
17g.81868871T>GCA295137556ARHGDIAc.*5A>C (n.*5A>C)
c.502+118A>C (n.502+118A>C)
n.822A>C
c.508A>C (p.Ser170Arg)
n.679A>C
n.610A>C
 dbSNP
17g.81868871T=CA2278712663ARHGDIAc.*5A= (n.*5A=)
c.502+118A= (n.502+118A=)
n.822A=
c.508A= (p.Ser170=)
n.679A=
n.610A=
17g.81868872G>ACA2810643510ARHGDIAc.*4C>T (n.*4C>T)
c.502+117C>T (n.502+117C>T)
n.821C>T
c.507C>T (p.Pro169=)
n.678C>T
n.609C>T
17g.81868872G>TCA2576427329ARHGDIAc.*4C>A (n.*4C>A)
c.502+117C>A (n.502+117C>A)
n.821C>A
c.507C>A (p.Pro169=)
n.678C>A
n.609C>A
17g.81868874dupCA2576427330ARHGDIAc.*4dup (n.*4dup)
c.502+117dup (n.502+117dup)
n.821dup
c.507dup (p.Ser170GlnfsTer9)
n.678dup
n.609dup
17g.81868873G>ACA401523102ARHGDIAc.*3C>T (n.*3C>T)
c.502+116C>T (n.502+116C>T)
n.820C>T
c.506C>T (p.Pro169Leu)
n.677C>T
n.608C>T
17g.81868873G>CCA401523104ARHGDIAc.*3C>G (n.*3C>G)
c.502+116C>G (n.502+116C>G)
n.820C>G
c.506C>G (p.Pro169Arg)
n.677C>G
n.608C>G
17g.81868873G>TCA401523107ARHGDIAc.*3C>A (n.*3C>A)
c.502+116C>A (n.502+116C>A)
n.820C>A
c.506C>A (p.Pro169His)
n.677C>A
n.608C>A
17g.81868874G>ACA401523110ARHGDIAc.*2C>T (n.*2C>T)
c.502+115C>T (n.502+115C>T)
n.819C>T
c.505C>T (p.Pro169Ser)
n.676C>T
n.607C>T
 gnomAD v4
17g.81868874G>CCA401523114ARHGDIAc.*2C>G (n.*2C>G)
c.502+115C>G (n.502+115C>G)
n.819C>G
c.505C>G (p.Pro169Ala)
n.676C>G
n.607C>G
17g.81868874G>TCA401523125ARHGDIAc.*2C>A (n.*2C>A)
c.502+115C>A (n.502+115C>A)
n.819C>A
c.505C>A (p.Pro169Thr)
n.676C>A
n.607C>A
17g.81868875_81868953dupCA2640523186ARHGDIAc.539_*2dup (n.539_*2dup)
c.416-9_*2dup
c.502+37_502+115dup (n.502+37_502+115dup)
c.314_*2dup (n.314_*2dup)
n.741_819dup
c.436-9_505dup
c.674_*2dup (n.674_*2dup)
n.598_676dup
n.529_607dup
 gnomAD v4
17g.81868875C>ACA401523128ARHGDIAc.*1G>T (n.*1G>T)
c.502+114G>T (n.502+114G>T)
n.818G>T
c.504G>T (p.Glu168Asp)
n.675G>T
n.606G>T
 dbSNP
17g.81868875C=CA2278712664ARHGDIAc.*1G= (n.*1G=)
c.502+114G= (n.502+114G=)
n.818G=
c.504G= (p.Glu168=)
n.675G=
n.606G=
17g.81868875C>GCA401523130ARHGDIAc.*1G>C (n.*1G>C)
c.502+114G>C (n.502+114G>C)
n.818G>C
c.504G>C (p.Glu168Asp)
n.675G>C
n.606G>C
17g.81868875C>TCA2599097508ARHGDIAc.*1G>A (n.*1G>A)
c.502+114G>A (n.502+114G>A)
n.818G>A
c.504G>A (p.Glu168=)
n.675G>A
n.606G>A
 dbSNP gnomAD v3 gnomAD v4
17g.81868876T>ACA401523133ARHGDIAc.615A>T (p.Ter205Cys)
c.483A>T (p.Ter161Cys)
c.502+113A>T (n.502+113A>T)
c.390A>T (p.Ter130Cys)
n.817A>T
c.503A>T (p.Glu168Val)
c.750A>T (p.Ter250Cys)
n.674A>T
n.605A>T
17g.81868876T>CCA401523137ARHGDIAc.615A>G (p.Ter205Trp)
c.483A>G (p.Ter161Trp)
c.502+113A>G (n.502+113A>G)
c.390A>G (p.Ter130Trp)
n.817A>G
c.503A>G (p.Glu168Gly)
c.750A>G (p.Ter250Trp)
n.674A>G
n.605A>G
17g.81868876T>GCA401523136ARHGDIAc.615A>C (p.Ter205Cys)
c.483A>C (p.Ter161Cys)
c.502+113A>C (n.502+113A>C)
c.390A>C (p.Ter130Cys)
n.817A>C
c.503A>C (p.Glu168Ala)
c.750A>C (p.Ter250Cys)
n.674A>C
n.605A>C
17g.81868878_81868881dupCA919909306ARHGDIAc.612_615dup (n.612_615dup)
c.480_483dup (n.480_483dup)
c.502+110_502+113dup (n.502+110_502+113dup)
c.387_390dup (n.387_390dup)
n.814_817dup
c.500_503dup (p.Glu168AspfsTer2)
c.747_750dup (n.747_750dup)
n.671_674dup
n.602_605dup
 dbSNP
17g.81868876_81868885delinsTCAGTCCTTCCA2278712665ARHGDIAc.606_615delinsGAAGGACTGA (p.Trp202=)
c.474_483delinsGAAGGACTGA (p.Trp158=)
c.502+104_502+113delinsGAAGGACTGA (n.502+104_502+113delinsGAAGGACTGA)
c.381_390delinsGAAGGACTGA (p.Trp127=)
n.808_817delinsGAAGGACTGA
c.494_503delinsGAAGGACTGA (p.Gly165=)
c.741_750delinsGAAGGACTGA (p.Trp247=)
n.665_674delinsGAAGGACTGA
n.596_605delinsGAAGGACTGA
17g.81868877C>ACA401523141ARHGDIAc.614G>T (p.Ter205Leu)
c.482G>T (p.Ter161Leu)
c.502+112G>T (n.502+112G>T)
c.389G>T (p.Ter130Leu)
n.816G>T
c.502G>T (p.Glu168Ter)
c.749G>T (p.Ter250Leu)
n.673G>T
n.604G>T
17g.81868877C=CA2278712666ARHGDIAc.614G= (p.Ter205=)
c.482G= (p.Ter161=)
c.502+112G= (n.502+112G=)
c.389G= (p.Ter130=)
n.816G=
c.502G= (p.Glu168=)
c.749G= (p.Ter250=)
n.673G=
n.604G=
17g.81868877C>GCA401523144ARHGDIAc.614G>C (p.Ter205Ser)
c.482G>C (p.Ter161Ser)
c.502+112G>C (n.502+112G>C)
c.389G>C (p.Ter130Ser)
n.816G>C
c.502G>C (p.Glu168Gln)
c.749G>C (p.Ter250Ser)
n.673G>C
n.604G>C
 gnomAD v4
17g.81868877C>TCA401523146ARHGDIAc.614G>A (p.Ter205=)
c.482G>A (p.Ter161=)
c.502+112G>A (n.502+112G>A)
c.389G>A (p.Ter130=)
n.816G>A
c.502G>A (p.Glu168Lys)
c.749G>A (p.Ter250=)
n.673G>A
n.604G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.81868877_81868878delCA2734050729ARHGDIAc.613_614del (p.Ter205SerextTer?)
c.481_482del (p.Ter161SerextTer?)
c.502+111_502+112del (n.502+111_502+112del)
c.388_389del (p.Ter130SerextTer?)
n.815_816del
c.501_502del (p.Glu168AlafsTer10)
c.748_749del (p.Ter250SerextTer?)
n.672_673del
n.603_604del
 dbSNP
17g.81868886_81868894delCA8843189ARHGDIAc.606_614del (p.Trp202Ter)
c.474_482del (p.Trp158Ter)
c.502+104_502+112del (n.502+104_502+112del)
c.381_389del (p.Trp127Ter)
n.808_816del
c.494_502del (p.Gly165_Thr167del)
c.741_749del (p.Trp247Ter)
n.665_673del
n.596_604del
 dbSNP ExAC gnomAD v2
17g.81868878A=CA2278712667ARHGDIAc.613T= (p.Ter205=)
c.481T= (p.Ter161=)
c.502+111T= (n.502+111T=)
c.388T= (p.Ter130=)
n.815T=
c.501T= (p.Thr167=)
c.748T= (p.Ter250=)
n.672T=
n.603T=
17g.81868878A>CCA401523151ARHGDIAc.613T>G (p.Ter205Gly)
c.481T>G (p.Ter161Gly)
c.502+111T>G (n.502+111T>G)
c.388T>G (p.Ter130Gly)
n.815T>G
c.501T>G (p.Thr167=)
c.748T>G (p.Ter250Gly)
n.672T>G
n.603T>G
17g.81868878A>GCA8843190ARHGDIAc.613T>C (p.Ter205Arg)
c.481T>C (p.Ter161Arg)
c.502+111T>C (n.502+111T>C)
c.388T>C (p.Ter130Arg)
n.815T>C
c.501T>C (p.Thr167=)
c.748T>C (p.Ter250Arg)
n.672T>C
n.603T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81868878A>TCA401523156ARHGDIAc.613T>A (p.Ter205Arg)
c.481T>A (p.Ter161Arg)
c.502+111T>A (n.502+111T>A)
c.388T>A (p.Ter130Arg)
n.815T>A
c.501T>A (p.Thr167=)
c.748T>A (p.Ter250Arg)
n.672T>A
n.603T>A
17g.81868879G>ACA401523159ARHGDIAc.612C>T (p.Asp204=)
c.480C>T (p.Asp160=)
c.502+110C>T (n.502+110C>T)
c.387C>T (p.Asp129=)
n.814C>T
c.500C>T (p.Thr167Ile)
c.747C>T (p.Asp249=)
n.671C>T
n.602C>T
 gnomAD v4
17g.81868879G>CCA401523162ARHGDIAc.612C>G (p.Asp204Glu)
c.480C>G (p.Asp160Glu)
c.502+110C>G (n.502+110C>G)
c.387C>G (p.Asp129Glu)
n.814C>G
c.500C>G (p.Thr167Ser)
c.747C>G (p.Asp249Glu)
n.671C>G
n.602C>G
 gnomAD v4
17g.81868879G>TCA401523164ARHGDIAc.612C>A (p.Asp204Glu)
c.480C>A (p.Asp160Glu)
c.502+110C>A (n.502+110C>A)
c.387C>A (p.Asp129Glu)
n.814C>A
c.500C>A (p.Thr167Asn)
c.747C>A (p.Asp249Glu)
n.671C>A
n.602C>A
17g.81868880T>ACA401523170ARHGDIAc.611A>T (p.Asp204Val)
c.479A>T (p.Asp160Val)
c.502+109A>T (n.502+109A>T)
c.386A>T (p.Asp129Val)
n.813A>T
c.499A>T (p.Thr167Ser)
c.746A>T (p.Asp249Val)
n.670A>T
n.601A>T
17g.81868880T>CCA401523174ARHGDIAc.611A>G (p.Asp204Gly)
c.479A>G (p.Asp160Gly)
c.502+109A>G (n.502+109A>G)
c.386A>G (p.Asp129Gly)
n.813A>G
c.499A>G (p.Thr167Ala)
c.746A>G (p.Asp249Gly)
n.670A>G
n.601A>G
17g.81868880T>GCA401523168ARHGDIAc.611A>C (p.Asp204Ala)
c.479A>C (p.Asp160Ala)
c.502+109A>C (n.502+109A>C)
c.386A>C (p.Asp129Ala)
n.813A>C
c.499A>C (p.Thr167Pro)
c.746A>C (p.Asp249Ala)
n.670A>C
n.601A>C
17g.81868881C>ACA401523179ARHGDIAc.610G>T (p.Asp204Tyr)
c.478G>T (p.Asp160Tyr)
c.502+108G>T (n.502+108G>T)
c.385G>T (p.Asp129Tyr)
n.812G>T
c.498G>T (p.Arg166Ser)
c.745G>T (p.Asp249Tyr)
n.669G>T
n.600G>T
17g.81868881C>GCA401523182ARHGDIAc.610G>C (p.Asp204His)
c.478G>C (p.Asp160His)
c.502+108G>C (n.502+108G>C)
c.385G>C (p.Asp129His)
n.812G>C
c.498G>C (p.Arg166Ser)
c.745G>C (p.Asp249His)
n.669G>C
n.600G>C
17g.81868881C>TCA401523185ARHGDIAc.610G>A (p.Asp204Asn)
c.478G>A (p.Asp160Asn)
c.502+108G>A (n.502+108G>A)
c.385G>A (p.Asp129Asn)
n.812G>A
c.498G>A (p.Arg166=)
c.745G>A (p.Asp249Asn)
n.669G>A
n.600G>A
17g.81868882C>ACA401523187ARHGDIAc.609G>T (p.Lys203Asn)
c.477G>T (p.Lys159Asn)
c.502+107G>T (n.502+107G>T)
c.384G>T (p.Lys128Asn)
n.811G>T
c.497G>T (p.Arg166Met)
c.744G>T (p.Lys248Asn)
n.668G>T
n.599G>T
17g.81868882C=CA2278712668ARHGDIAc.609G= (p.Lys203=)
c.477G= (p.Lys159=)
c.502+107G= (n.502+107G=)
c.384G= (p.Lys128=)
n.811G=
c.497G= (p.Arg166=)
c.744G= (p.Lys248=)
n.668G=
n.599G=
17g.81868882C>GCA401523188ARHGDIAc.609G>C (p.Lys203Asn)
c.477G>C (p.Lys159Asn)
c.502+107G>C (n.502+107G>C)
c.384G>C (p.Lys128Asn)
n.811G>C
c.497G>C (p.Arg166Thr)
c.744G>C (p.Lys248Asn)
n.668G>C
n.599G>C
17g.81868882C>TCA8843191ARHGDIAc.609G>A (p.Lys203=)
c.477G>A (p.Lys159=)
c.502+107G>A (n.502+107G>A)
c.384G>A (p.Lys128=)
n.811G>A
c.497G>A (p.Arg166Lys)
c.744G>A (p.Lys248=)
n.668G>A
n.599G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81868883T>ACA401523195ARHGDIAc.608A>T (p.Lys203Met)
c.476A>T (p.Lys159Met)
c.502+106A>T (n.502+106A>T)
c.383A>T (p.Lys128Met)
n.810A>T
c.496A>T (p.Arg166Trp)
c.743A>T (p.Lys248Met)
n.667A>T
n.598A>T
17g.81868883T>CCA401523197ARHGDIAc.608A>G (p.Lys203Arg)
c.476A>G (p.Lys159Arg)
c.502+106A>G (n.502+106A>G)
c.383A>G (p.Lys128Arg)
n.810A>G
c.496A>G (p.Arg166Gly)
c.743A>G (p.Lys248Arg)
n.667A>G
n.598A>G
17g.81868883T>GCA401523199ARHGDIAc.608A>C (p.Lys203Thr)
c.476A>C (p.Lys159Thr)
c.502+106A>C (n.502+106A>C)
c.383A>C (p.Lys128Thr)
n.810A>C
c.496A>C (p.Arg166=)
c.743A>C (p.Lys248Thr)
n.667A>C
n.598A>C
17g.81868884T>ACA401523201ARHGDIAc.607A>T (p.Lys203Ter)
c.475A>T (p.Lys159Ter)
c.502+105A>T (n.502+105A>T)
c.382A>T (p.Lys128Ter)
n.809A>T
c.495A>T (p.Gly165=)
c.742A>T (p.Lys248Ter)
n.666A>T
n.597A>T
17g.81868884T>CCA401523205ARHGDIAc.607A>G (p.Lys203Glu)
c.475A>G (p.Lys159Glu)
c.502+105A>G (n.502+105A>G)
c.382A>G (p.Lys128Glu)
n.809A>G
c.495A>G (p.Gly165=)
c.742A>G (p.Lys248Glu)
n.666A>G
n.597A>G
 dbSNP gnomAD v2 gnomAD v4
17g.81868884T>GCA401523207ARHGDIAc.607A>C (p.Lys203Gln)
c.475A>C (p.Lys159Gln)
c.502+105A>C (n.502+105A>C)
c.382A>C (p.Lys128Gln)
n.809A>C
c.495A>C (p.Gly165=)
c.742A>C (p.Lys248Gln)
n.666A>C
n.597A>C
17g.81868884T=CA2278712669ARHGDIAc.607A= (p.Lys203=)
c.475A= (p.Lys159=)
c.502+105A= (n.502+105A=)
c.382A= (p.Lys128=)
n.809A=
c.495A= (p.Gly165=)
c.742A= (p.Lys248=)
n.666A=
n.597A=
17g.81868885C>ACA401523212ARHGDIAc.606G>T (p.Trp202Cys)
c.474G>T (p.Trp158Cys)
c.502+104G>T (n.502+104G>T)
c.381G>T (p.Trp127Cys)
n.808G>T
c.494G>T (p.Gly165Val)
c.741G>T (p.Trp247Cys)
n.665G>T
n.596G>T
17g.81868885C=CA2278712670ARHGDIAc.606G= (p.Trp202=)
c.474G= (p.Trp158=)
c.502+104G= (n.502+104G=)
c.381G= (p.Trp127=)
n.808G=
c.494G= (p.Gly165=)
c.741G= (p.Trp247=)
n.665G=
n.596G=
17g.81868885C>GCA8843193ARHGDIAc.606G>C (p.Trp202Cys)
c.474G>C (p.Trp158Cys)
c.502+104G>C (n.502+104G>C)
c.381G>C (p.Trp127Cys)
n.808G>C
c.494G>C (p.Gly165Ala)
c.741G>C (p.Trp247Cys)
n.665G>C
n.596G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81868885C>TCA8843192ARHGDIAc.606G>A (p.Trp202Ter)
c.474G>A (p.Trp158Ter)
c.502+104G>A (n.502+104G>A)
c.381G>A (p.Trp127Ter)
n.808G>A
c.494G>A (p.Gly165Glu)
c.741G>A (p.Trp247Ter)
n.665G>A
n.596G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81868886delCA2640523231ARHGDIAc.606del (p.Trp202Ter)
c.474del (p.Trp158Ter)
c.502+104del (n.502+104del)
c.381del (p.Trp127Ter)
n.808del
c.494del (p.Gly165GlufsTer?)
c.741del (p.Trp247Ter)
n.665del
n.596del
 gnomAD v4
17g.81868886C>ACA401523215ARHGDIAc.605G>T (p.Trp202Leu)
c.473G>T (p.Trp158Leu)
c.502+103G>T (n.502+103G>T)
c.380G>T (p.Trp127Leu)
n.807G>T
c.493G>T (p.Gly165Ter)
c.740G>T (p.Trp247Leu)
n.664G>T
n.595G>T
17g.81868886C>GCA401523216ARHGDIAc.605G>C (p.Trp202Ser)
c.473G>C (p.Trp158Ser)
c.502+103G>C (n.502+103G>C)
c.380G>C (p.Trp127Ser)
n.807G>C
c.493G>C (p.Gly165Arg)
c.740G>C (p.Trp247Ser)
n.664G>C
n.595G>C
17g.81868886C>TCA401523219ARHGDIAc.605G>A (p.Trp202Ter)
c.473G>A (p.Trp158Ter)
c.502+103G>A (n.502+103G>A)
c.380G>A (p.Trp127Ter)
n.807G>A
c.493G>A (p.Gly165Arg)
c.740G>A (p.Trp247Ter)
n.664G>A
n.595G>A
17g.81868887A>CCA401523222ARHGDIAc.604T>G (p.Trp202Gly)
c.472T>G (p.Trp158Gly)
c.502+102T>G (n.502+102T>G)
c.379T>G (p.Trp127Gly)
n.806T>G
c.492T>G (p.Thr164=)
c.739T>G (p.Trp247Gly)
n.663T>G
n.594T>G
17g.81868887A>GCA401523224ARHGDIAc.604T>C (p.Trp202Arg)
c.472T>C (p.Trp158Arg)
c.502+102T>C (n.502+102T>C)
c.379T>C (p.Trp127Arg)
n.806T>C
c.492T>C (p.Thr164=)
c.739T>C (p.Trp247Arg)
n.663T>C
n.594T>C
17g.81868887A>TCA401523225ARHGDIAc.604T>A (p.Trp202Arg)
c.472T>A (p.Trp158Arg)
c.502+102T>A (n.502+102T>A)
c.379T>A (p.Trp127Arg)
n.806T>A
c.492T>A (p.Thr164=)
c.739T>A (p.Trp247Arg)
n.663T>A
n.594T>A
17g.81868888G>ACA401523233ARHGDIAc.603C>T (p.Asp201=)
c.471C>T (p.Asp157=)
c.502+101C>T (n.502+101C>T)
c.378C>T (p.Asp126=)
n.805C>T
c.491C>T (p.Thr164Ile)
c.738C>T (p.Asp246=)
n.662C>T
n.593C>T
 dbSNP gnomAD v4
17g.81868888G>CCA8843194ARHGDIAc.603C>G (p.Asp201Glu)
c.471C>G (p.Asp157Glu)
c.502+101C>G (n.502+101C>G)
c.378C>G (p.Asp126Glu)
n.805C>G
c.491C>G (p.Thr164Ser)
c.738C>G (p.Asp246Glu)
n.662C>G
n.593C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81868888G=CA2278712671ARHGDIAc.603C= (p.Asp201=)
c.471C= (p.Asp157=)
c.502+101C= (n.502+101C=)
c.378C= (p.Asp126=)
n.805C=
c.491C= (p.Thr164=)
c.738C= (p.Asp246=)
n.662C=
n.593C=
17g.81868888G>TCA401523232ARHGDIAc.603C>A (p.Asp201Glu)
c.471C>A (p.Asp157Glu)
c.502+101C>A (n.502+101C>A)
c.378C>A (p.Asp126Glu)
n.805C>A
c.491C>A (p.Thr164Asn)
c.738C>A (p.Asp246Glu)
n.662C>A
n.593C>A
 dbSNP gnomAD v3 gnomAD v4
17g.81868889_81868897delCA2576427331ARHGDIAc.595_603del (p.Lys199_Asp201del)
c.463_471del (p.Lys155_Asp157del)
c.502+93_502+101del (n.502+93_502+101del)
c.370_378del (p.Lys124_Asp126del)
n.797_805del
c.483_491del (p.Arg162_Thr164del)
c.730_738del (p.Lys244_Asp246del)
n.654_662del
n.585_593del
17g.81868889T>ACA401523239ARHGDIAc.602A>T (p.Asp201Val)
c.470A>T (p.Asp157Val)
c.502+100A>T (n.502+100A>T)
c.377A>T (p.Asp126Val)
n.804A>T
c.490A>T (p.Thr164Ser)
c.737A>T (p.Asp246Val)
n.661A>T
n.592A>T
 gnomAD v4
17g.81868889T>CCA401523242ARHGDIAc.602A>G (p.Asp201Gly)
c.470A>G (p.Asp157Gly)
c.502+100A>G (n.502+100A>G)
c.377A>G (p.Asp126Gly)
n.804A>G
c.490A>G (p.Thr164Ala)
c.737A>G (p.Asp246Gly)
n.661A>G
n.592A>G
17g.81868889T>GCA401523245ARHGDIAc.602A>C (p.Asp201Ala)
c.470A>C (p.Asp157Ala)
c.502+100A>C (n.502+100A>C)
c.377A>C (p.Asp126Ala)
n.804A>C
c.490A>C (p.Thr164Pro)
c.737A>C (p.Asp246Ala)
n.661A>C
n.592A>C
17g.81868890C>ACA401523248ARHGDIAc.601G>T (p.Asp201Tyr)
c.469G>T (p.Asp157Tyr)
c.502+99G>T (n.502+99G>T)
c.376G>T (p.Asp126Tyr)
n.803G>T
c.489G>T (p.Arg163Ser)
c.736G>T (p.Asp246Tyr)
n.660G>T
n.591G>T
 dbSNP gnomAD v4
17g.81868890C=CA2278712673ARHGDIAc.601G= (p.Asp201=)
c.469G= (p.Asp157=)
c.502+99G= (n.502+99G=)
c.376G= (p.Asp126=)
n.803G=
c.489G= (p.Arg163=)
c.736G= (p.Asp246=)
n.660G=
n.591G=
17g.81868890C>GCA401523250ARHGDIAc.601G>C (p.Asp201His)
c.469G>C (p.Asp157His)
c.502+99G>C (n.502+99G>C)
c.376G>C (p.Asp126His)
n.803G>C
c.489G>C (p.Arg163Ser)
c.736G>C (p.Asp246His)
n.660G>C
n.591G>C
17g.81868890C>TCA401523253ARHGDIAc.601G>A (p.Asp201Asn)
c.469G>A (p.Asp157Asn)
c.502+99G>A (n.502+99G>A)
c.376G>A (p.Asp126Asn)
n.803G>A
c.489G>A (p.Arg163=)
c.736G>A (p.Asp246Asn)
n.660G>A
n.591G>A
 dbSNP
17g.81868890_81868893delinsCCTTCA2278712672ARHGDIAc.598_601delinsAAGG (p.Lys200=)
c.466_469delinsAAGG (p.Lys156=)
c.502+96_502+99delinsAAGG (n.502+96_502+99delinsAAGG)
c.373_376delinsAAGG (p.Lys125=)
n.800_803delinsAAGG
c.486_489delinsAAGG (p.Arg162=)
c.733_736delinsAAGG (p.Lys245=)
n.657_660delinsAAGG
n.588_591delinsAAGG
17g.81868891C>ACA401523263ARHGDIAc.600G>T (p.Lys200Asn)
c.468G>T (p.Lys156Asn)
c.502+98G>T (n.502+98G>T)
c.375G>T (p.Lys125Asn)
n.802G>T
c.488G>T (p.Arg163Met)
c.735G>T (p.Lys245Asn)
n.659G>T
n.590G>T
 COSMIC
17g.81868891C>GCA401523269ARHGDIAc.600G>C (p.Lys200Asn)
c.468G>C (p.Lys156Asn)
c.502+98G>C (n.502+98G>C)
c.375G>C (p.Lys125Asn)
n.802G>C
c.488G>C (p.Arg163Thr)
c.735G>C (p.Lys245Asn)
n.659G>C
n.590G>C
17g.81868891C>TCA401523266ARHGDIAc.600G>A (p.Lys200=)
c.468G>A (p.Lys156=)
c.502+98G>A (n.502+98G>A)
c.375G>A (p.Lys125=)
n.802G>A
c.488G>A (p.Arg163Lys)
c.735G>A (p.Lys245=)
n.659G>A
n.590G>A
 gnomAD v4
17g.81868894_81868896delCA8843195ARHGDIAc.598_600del (p.Lys200del)
c.466_468del (p.Lys156del)
c.502+96_502+98del (n.502+96_502+98del)
c.373_375del (p.Lys125del)
n.800_802del
c.486_488del (p.Arg163del)
c.733_735del (p.Lys245del)
n.657_659del
n.588_590del
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81868892T>ACA401523271ARHGDIAc.599A>T (p.Lys200Met)
c.467A>T (p.Lys156Met)
c.502+97A>T (n.502+97A>T)
c.374A>T (p.Lys125Met)
n.801A>T
c.487A>T (p.Arg163Trp)
c.734A>T (p.Lys245Met)
n.658A>T
n.589A>T
17g.81868892T>CCA401523274ARHGDIAc.599A>G (p.Lys200Arg)
c.467A>G (p.Lys156Arg)
c.502+97A>G (n.502+97A>G)
c.374A>G (p.Lys125Arg)
n.801A>G
c.487A>G (p.Arg163Gly)
c.734A>G (p.Lys245Arg)
n.658A>G
n.589A>G
17g.81868892T>GCA401523276ARHGDIAc.599A>C (p.Lys200Thr)
c.467A>C (p.Lys156Thr)
c.502+97A>C (n.502+97A>C)
c.374A>C (p.Lys125Thr)
n.801A>C
c.487A>C (p.Arg163=)
c.734A>C (p.Lys245Thr)
n.658A>C
n.589A>C
17g.81868893T>ACA401523281ARHGDIAc.598A>T (p.Lys200Ter)
c.466A>T (p.Lys156Ter)
c.502+96A>T (n.502+96A>T)
c.373A>T (p.Lys125Ter)
n.800A>T
c.486A>T (p.Arg162Ser)
c.733A>T (p.Lys245Ter)
n.657A>T
n.588A>T
17g.81868893T>CCA401523279ARHGDIAc.598A>G (p.Lys200Glu)
c.466A>G (p.Lys156Glu)
c.502+96A>G (n.502+96A>G)
c.373A>G (p.Lys125Glu)
n.800A>G
c.486A>G (p.Arg162=)
c.733A>G (p.Lys245Glu)
n.657A>G
n.588A>G
 dbSNP gnomAD v4 COSMIC
17g.81868893T>GCA401523280ARHGDIAc.598A>C (p.Lys200Gln)
c.466A>C (p.Lys156Gln)
c.502+96A>C (n.502+96A>C)
c.373A>C (p.Lys125Gln)
n.800A>C
c.486A>C (p.Arg162Ser)
c.733A>C (p.Lys245Gln)
n.657A>C
n.588A>C
17g.81868893T=CA2278712674ARHGDIAc.598A= (p.Lys200=)
c.466A= (p.Lys156=)
c.502+96A= (n.502+96A=)
c.373A= (p.Lys125=)
n.800A=
c.486A= (p.Arg162=)
c.733A= (p.Lys245=)
n.657A=
n.588A=
17g.81868894C>ACA401523282ARHGDIAc.597G>T (p.Lys199Asn)
c.465G>T (p.Lys155Asn)
c.502+95G>T (n.502+95G>T)
c.372G>T (p.Lys124Asn)
n.799G>T
c.485G>T (p.Arg162Ile)
c.732G>T (p.Lys244Asn)
n.656G>T
n.587G>T
17g.81868894C=CA2278712675ARHGDIAc.597G= (p.Lys199=)
c.465G= (p.Lys155=)
c.502+95G= (n.502+95G=)
c.372G= (p.Lys124=)
n.799G=
c.485G= (p.Arg162=)
c.732G= (p.Lys244=)
n.656G=
n.587G=
17g.81868894C>GCA401523283ARHGDIAc.597G>C (p.Lys199Asn)
c.465G>C (p.Lys155Asn)
c.502+95G>C (n.502+95G>C)
c.372G>C (p.Lys124Asn)
n.799G>C
c.485G>C (p.Arg162Thr)
c.732G>C (p.Lys244Asn)
n.656G>C
n.587G>C
17g.81868894C>TCA401523285ARHGDIAc.597G>A (p.Lys199=)
c.465G>A (p.Lys155=)
c.502+95G>A (n.502+95G>A)
c.372G>A (p.Lys124=)
n.799G>A
c.485G>A (p.Arg162Lys)
c.732G>A (p.Lys244=)
n.656G>A
n.587G>A
 dbSNP gnomAD v4 COSMIC
17g.81868895T>ACA401523287ARHGDIAc.596A>T (p.Lys199Met)
c.464A>T (p.Lys155Met)
c.502+94A>T (n.502+94A>T)
c.371A>T (p.Lys124Met)
n.798A>T
c.484A>T (p.Arg162Ter)
c.731A>T (p.Lys244Met)
n.655A>T
n.586A>T
17g.81868895T>CCA401523289ARHGDIAc.596A>G (p.Lys199Arg)
c.464A>G (p.Lys155Arg)
c.502+94A>G (n.502+94A>G)
c.371A>G (p.Lys124Arg)
n.798A>G
c.484A>G (p.Arg162Gly)
c.731A>G (p.Lys244Arg)
n.655A>G
n.586A>G
 dbSNP gnomAD v3 gnomAD v4
17g.81868895T>GCA401523292ARHGDIAc.596A>C (p.Lys199Thr)
c.464A>C (p.Lys155Thr)
c.502+94A>C (n.502+94A>C)
c.371A>C (p.Lys124Thr)
n.798A>C
c.484A>C (p.Arg162=)
c.731A>C (p.Lys244Thr)
n.655A>C
n.586A>C
17g.81868895T=CA2278712676ARHGDIAc.596A= (p.Lys199=)
c.464A= (p.Lys155=)
c.502+94A= (n.502+94A=)
c.371A= (p.Lys124=)
n.798A=
c.484A= (p.Arg162=)
c.731A= (p.Lys244=)
n.655A=
n.586A=
17g.81868896T>ACA401523294ARHGDIAc.595A>T (p.Lys199Ter)
c.463A>T (p.Lys155Ter)
c.502+93A>T (n.502+93A>T)
c.370A>T (p.Lys124Ter)
n.797A>T
c.483A>T (p.Ser161=)
c.730A>T (p.Lys244Ter)
n.654A>T
n.585A>T
17g.81868896T>CCA401523296ARHGDIAc.595A>G (p.Lys199Glu)
c.463A>G (p.Lys155Glu)
c.502+93A>G (n.502+93A>G)
c.370A>G (p.Lys124Glu)
n.797A>G
c.483A>G (p.Ser161=)
c.730A>G (p.Lys244Glu)
n.654A>G
n.585A>G
17g.81868896T>GCA401523297ARHGDIAc.595A>C (p.Lys199Gln)
c.463A>C (p.Lys155Gln)
c.502+93A>C (n.502+93A>C)
c.370A>C (p.Lys124Gln)
n.797A>C
c.483A>C (p.Ser161=)
c.730A>C (p.Lys244Gln)
n.654A>C
n.585A>C
 gnomAD v4
17g.81868897G>ACA401523305ARHGDIAc.594C>T (p.Ile198=)
c.462C>T (p.Ile154=)
c.502+92C>T (n.502+92C>T)
c.369C>T (p.Ile123=)
n.796C>T
c.482C>T (p.Ser161Leu)
c.729C>T (p.Ile243=)
n.653C>T
n.584C>T
17g.81868897G>CCA401523303ARHGDIAc.594C>G (p.Ile198Met)
c.462C>G (p.Ile154Met)
c.502+92C>G (n.502+92C>G)
c.369C>G (p.Ile123Met)
n.796C>G
c.482C>G (p.Ser161Ter)
c.729C>G (p.Ile243Met)
n.653C>G
n.584C>G
17g.81868897G=CA2278712677ARHGDIAc.594C= (p.Ile198=)
c.462C= (p.Ile154=)
c.502+92C= (n.502+92C=)
c.369C= (p.Ile123=)
n.796C=
c.482C= (p.Ser161=)
c.729C= (p.Ile243=)
n.653C=
n.584C=
17g.81868897G>TCA401523301ARHGDIAc.594C>A (p.Ile198=)
c.462C>A (p.Ile154=)
c.502+92C>A (n.502+92C>A)
c.369C>A (p.Ile123=)
n.796C>A
c.482C>A (p.Ser161Ter)
c.729C>A (p.Ile243=)
n.653C>A
n.584C>A
 dbSNP
17g.81868898A>CCA401523310ARHGDIAc.593T>G (p.Ile198Ser)
c.461T>G (p.Ile154Ser)
c.502+91T>G (n.502+91T>G)
c.368T>G (p.Ile123Ser)
n.795T>G
c.481T>G (p.Ser161Ala)
c.728T>G (p.Ile243Ser)
n.652T>G
n.583T>G
17g.81868898A>GCA401523312ARHGDIAc.593T>C (p.Ile198Thr)
c.461T>C (p.Ile154Thr)
c.502+91T>C (n.502+91T>C)
c.368T>C (p.Ile123Thr)
n.795T>C
c.481T>C (p.Ser161Pro)
c.728T>C (p.Ile243Thr)
n.652T>C
n.583T>C
17g.81868898A>TCA401523316ARHGDIAc.593T>A (p.Ile198Asn)
c.461T>A (p.Ile154Asn)
c.502+91T>A (n.502+91T>A)
c.368T>A (p.Ile123Asn)
n.795T>A
c.481T>A (p.Ser161Thr)
c.728T>A (p.Ile243Asn)
n.652T>A
n.583T>A
17g.81868899T>ACA401523320ARHGDIAc.592A>T (p.Ile198Phe)
c.460A>T (p.Ile154Phe)
c.502+90A>T (n.502+90A>T)
c.367A>T (p.Ile123Phe)
n.794A>T
c.480A>T (p.Pro160=)
c.727A>T (p.Ile243Phe)
n.651A>T
n.582A>T
17g.81868899T>CCA401523322ARHGDIAc.592A>G (p.Ile198Val)
c.460A>G (p.Ile154Val)
c.502+90A>G (n.502+90A>G)
c.367A>G (p.Ile123Val)
n.794A>G
c.480A>G (p.Pro160=)
c.727A>G (p.Ile243Val)
n.651A>G
n.582A>G
 gnomAD v4
17g.81868899T>GCA401523325ARHGDIAc.592A>C (p.Ile198Leu)
c.460A>C (p.Ile154Leu)
c.502+90A>C (n.502+90A>C)
c.367A>C (p.Ile123Leu)
n.794A>C
c.480A>C (p.Pro160=)
c.727A>C (p.Ile243Leu)
n.651A>C
n.582A>C
17g.81868900G>ACA401523328ARHGDIAc.591C>T (p.Thr197=)
c.459C>T (p.Thr153=)
c.502+89C>T (n.502+89C>T)
c.366C>T (p.Thr122=)
n.793C>T
c.479C>T (p.Pro160Leu)
c.726C>T (p.Thr242=)
n.650C>T
n.581C>T
 dbSNP gnomAD v4
17g.81868900G>CCA401523331ARHGDIAc.591C>G (p.Thr197=)
c.459C>G (p.Thr153=)
c.502+89C>G (n.502+89C>G)
c.366C>G (p.Thr122=)
n.793C>G
c.479C>G (p.Pro160Arg)
c.726C>G (p.Thr242=)
n.650C>G
n.581C>G
17g.81868900G=CA2278712678ARHGDIAc.591C= (p.Thr197=)
c.459C= (p.Thr153=)
c.502+89C= (n.502+89C=)
c.366C= (p.Thr122=)
n.793C=
c.479C= (p.Pro160=)
c.726C= (p.Thr242=)
n.650C=
n.581C=
17g.81868900G>TCA401523334ARHGDIAc.591C>A (p.Thr197=)
c.459C>A (p.Thr153=)
c.502+89C>A (n.502+89C>A)
c.366C>A (p.Thr122=)
n.793C>A
c.479C>A (p.Pro160Gln)
c.726C>A (p.Thr242=)
n.650C>A
n.581C>A
17g.81868901G>ACA401523337ARHGDIAc.590C>T (p.Thr197Ile)
c.458C>T (p.Thr153Ile)
c.502+88C>T (n.502+88C>T)
c.365C>T (p.Thr122Ile)
n.792C>T
c.478C>T (p.Pro160Ser)
c.725C>T (p.Thr242Ile)
n.649C>T
n.580C>T
 dbSNP gnomAD v4
17g.81868901G>CCA401523340ARHGDIAc.590C>G (p.Thr197Ser)
c.458C>G (p.Thr153Ser)
c.502+88C>G (n.502+88C>G)
c.365C>G (p.Thr122Ser)
n.792C>G
c.478C>G (p.Pro160Ala)
c.725C>G (p.Thr242Ser)
n.649C>G
n.580C>G
17g.81868901G=CA2278712679ARHGDIAc.590C= (p.Thr197=)
c.458C= (p.Thr153=)
c.502+88C= (n.502+88C=)
c.365C= (p.Thr122=)
n.792C=
c.478C= (p.Pro160=)
c.725C= (p.Thr242=)
n.649C=
n.580C=
17g.81868901G>TCA401523341ARHGDIAc.590C>A (p.Thr197Asn)
c.458C>A (p.Thr153Asn)
c.502+88C>A (n.502+88C>A)
c.365C>A (p.Thr122Asn)
n.792C>A
c.478C>A (p.Pro160Thr)
c.725C>A (p.Thr242Asn)
n.649C>A
n.580C>A
17g.81868902T>ACA401523350ARHGDIAc.589A>T (p.Thr197Ser)
c.457A>T (p.Thr153Ser)
c.502+87A>T (n.502+87A>T)
c.364A>T (p.Thr122Ser)
n.791A>T
c.477A>T (p.Ser159=)
c.724A>T (p.Thr242Ser)
n.648A>T
n.579A>T
17g.81868902T>CCA401523348ARHGDIAc.589A>G (p.Thr197Ala)
c.457A>G (p.Thr153Ala)
c.502+87A>G (n.502+87A>G)
c.364A>G (p.Thr122Ala)
n.791A>G
c.477A>G (p.Ser159=)
c.724A>G (p.Thr242Ala)
n.648A>G
n.579A>G
17g.81868902T>GCA401523344ARHGDIAc.589A>C (p.Thr197Pro)
c.457A>C (p.Thr153Pro)
c.502+87A>C (n.502+87A>C)
c.364A>C (p.Thr122Pro)
n.791A>C
c.477A>C (p.Ser159=)
c.724A>C (p.Thr242Pro)
n.648A>C
n.579A>C
 gnomAD v4
17g.81868903G>ACA8843196ARHGDIAc.588C>T (p.Leu196=)
c.456C>T (p.Leu152=)
c.502+86C>T (n.502+86C>T)
c.363C>T (p.Leu121=)
n.790C>T
c.476C>T (p.Ser159Leu)
c.723C>T (p.Leu241=)
n.647C>T
n.578C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81868903G>CCA401523354ARHGDIAc.588C>G (p.Leu196=)
c.456C>G (p.Leu152=)
c.502+86C>G (n.502+86C>G)
c.363C>G (p.Leu121=)
n.790C>G
c.476C>G (p.Ser159Ter)
c.723C>G (p.Leu241=)
n.647C>G
n.578C>G
17g.81868903G=CA2278712680ARHGDIAc.588C= (p.Leu196=)
c.456C= (p.Leu152=)
c.502+86C= (n.502+86C=)
c.363C= (p.Leu121=)
n.790C=
c.476C= (p.Ser159=)
c.723C= (p.Leu241=)
n.647C=
n.578C=
17g.81868903G>TCA401523357ARHGDIAc.588C>A (p.Leu196=)
c.456C>A (p.Leu152=)
c.502+86C>A (n.502+86C>A)
c.363C>A (p.Leu121=)
n.790C>A
c.476C>A (p.Ser159Ter)
c.723C>A (p.Leu241=)
n.647C>A
n.578C>A
17g.81868904A>CCA401523360ARHGDIAc.587T>G (p.Leu196Arg)
c.455T>G (p.Leu152Arg)
c.502+85T>G (n.502+85T>G)
c.362T>G (p.Leu121Arg)
n.789T>G
c.475T>G (p.Ser159Ala)
c.722T>G (p.Leu241Arg)
n.646T>G
n.577T>G
 COSMIC
17g.81868904A>GCA401523363ARHGDIAc.587T>C (p.Leu196Pro)
c.455T>C (p.Leu152Pro)
c.502+85T>C (n.502+85T>C)
c.362T>C (p.Leu121Pro)
n.789T>C
c.475T>C (p.Ser159Pro)
c.722T>C (p.Leu241Pro)
n.646T>C
n.577T>C
17g.81868904A>TCA401523365ARHGDIAc.587T>A (p.Leu196His)
c.455T>A (p.Leu152His)
c.502+85T>A (n.502+85T>A)
c.362T>A (p.Leu121His)
n.789T>A
c.475T>A (p.Ser159Thr)
c.722T>A (p.Leu241His)
n.646T>A
n.577T>A
17g.81868905G>ACA401523369ARHGDIAc.586C>T (p.Leu196Phe)
c.454C>T (p.Leu152Phe)
c.502+84C>T (n.502+84C>T)
c.361C>T (p.Leu121Phe)
n.788C>T
c.474C>T (p.Ile158=)
c.721C>T (p.Leu241Phe)
n.645C>T
n.576C>T
17g.81868905G>CCA401523372ARHGDIAc.586C>G (p.Leu196Val)
c.454C>G (p.Leu152Val)
c.502+84C>G (n.502+84C>G)
c.361C>G (p.Leu121Val)
n.788C>G
c.474C>G (p.Ile158Met)
c.721C>G (p.Leu241Val)
n.645C>G
n.576C>G
17g.81868905G>TCA401523375ARHGDIAc.586C>A (p.Leu196Ile)
c.454C>A (p.Leu152Ile)
c.502+84C>A (n.502+84C>A)
c.361C>A (p.Leu121Ile)
n.788C>A
c.474C>A (p.Ile158=)
c.721C>A (p.Leu241Ile)
n.645C>A
n.576C>A
 gnomAD v4
17g.81868906A=CA2278712681ARHGDIAc.585T= (p.Asn195=)
c.453T= (p.Asn151=)
c.502+83T= (n.502+83T=)
c.360T= (p.Asn120=)
n.787T=
c.473T= (p.Ile158=)
c.720T= (p.Asn240=)
n.644T=
n.575T=
17g.81868906A>CCA401523380ARHGDIAc.585T>G (p.Asn195Lys)
c.453T>G (p.Asn151Lys)
c.502+83T>G (n.502+83T>G)
c.360T>G (p.Asn120Lys)
n.787T>G
c.473T>G (p.Ile158Ser)
c.720T>G (p.Asn240Lys)
n.644T>G
n.575T>G
17g.81868906A>GCA401523382ARHGDIAc.585T>C (p.Asn195=)
c.453T>C (p.Asn151=)
c.502+83T>C (n.502+83T>C)
c.360T>C (p.Asn120=)
n.787T>C
c.473T>C (p.Ile158Thr)
c.720T>C (p.Asn240=)
n.644T>C
n.575T>C
 dbSNP gnomAD v2 gnomAD v4
17g.81868906A>TCA401523383ARHGDIAc.585T>A (p.Asn195Lys)
c.453T>A (p.Asn151Lys)
c.502+83T>A (n.502+83T>A)
c.360T>A (p.Asn120Lys)
n.787T>A
c.473T>A (p.Ile158Asn)
c.720T>A (p.Asn240Lys)
n.644T>A
n.575T>A
17g.81868907T>ACA401523386ARHGDIAc.584A>T (p.Asn195Ile)
c.452A>T (p.Asn151Ile)
c.502+82A>T (n.502+82A>T)
c.359A>T (p.Asn120Ile)
n.786A>T
c.472A>T (p.Ile158Phe)
c.719A>T (p.Asn240Ile)
n.643A>T
n.574A>T
17g.81868907T>CCA401523385ARHGDIAc.584A>G (p.Asn195Ser)
c.452A>G (p.Asn151Ser)
c.502+82A>G (n.502+82A>G)
c.359A>G (p.Asn120Ser)
n.786A>G
c.472A>G (p.Ile158Val)
c.719A>G (p.Asn240Ser)
n.643A>G
n.574A>G
 gnomAD v4
17g.81868907T>GCA401523384ARHGDIAc.584A>C (p.Asn195Thr)
c.452A>C (p.Asn151Thr)
c.502+82A>C (n.502+82A>C)
c.359A>C (p.Asn120Thr)
n.786A>C
c.472A>C (p.Ile158Leu)
c.719A>C (p.Asn240Thr)
n.643A>C
n.574A>C
17g.81868908T>ACA401523388ARHGDIAc.583A>T (p.Asn195Tyr)
c.451A>T (p.Asn151Tyr)
c.502+81A>T (n.502+81A>T)
c.358A>T (p.Asn120Tyr)
n.785A>T
c.471A>T (p.Gly157=)
c.718A>T (p.Asn240Tyr)
n.642A>T
n.573A>T
17g.81868908T>CCA401523390ARHGDIAc.583A>G (p.Asn195Asp)
c.451A>G (p.Asn151Asp)
c.502+81A>G (n.502+81A>G)
c.358A>G (p.Asn120Asp)
n.785A>G
c.471A>G (p.Gly157=)
c.718A>G (p.Asn240Asp)
n.642A>G
n.573A>G
17g.81868908T>GCA401523392ARHGDIAc.583A>C (p.Asn195His)
c.451A>C (p.Asn151His)
c.502+81A>C (n.502+81A>C)
c.358A>C (p.Asn120His)
n.785A>C
c.471A>C (p.Gly157=)
c.718A>C (p.Asn240His)
n.642A>C
n.573A>C
 gnomAD v4
17g.81868909C>ACA401523395ARHGDIAc.582G>T (p.Trp194Cys)
c.450G>T (p.Trp150Cys)
c.502+80G>T (n.502+80G>T)
c.357G>T (p.Trp119Cys)
n.784G>T
c.470G>T (p.Gly157Val)
c.717G>T (p.Trp239Cys)
n.641G>T
n.572G>T
17g.81868909C=CA2278712682ARHGDIAc.582G= (p.Trp194=)
c.450G= (p.Trp150=)
c.502+80G= (n.502+80G=)
c.357G= (p.Trp119=)
n.784G=
c.470G= (p.Gly157=)
c.717G= (p.Trp239=)
n.641G=
n.572G=
17g.81868909C>GCA295137601ARHGDIAc.582G>C (p.Trp194Cys)
c.450G>C (p.Trp150Cys)
c.502+80G>C (n.502+80G>C)
c.357G>C (p.Trp119Cys)
n.784G>C
c.470G>C (p.Gly157Ala)
c.717G>C (p.Trp239Cys)
n.641G>C
n.572G>C
 dbSNP
17g.81868909C>TCA401523398ARHGDIAc.582G>A (p.Trp194Ter)
c.450G>A (p.Trp150Ter)
c.502+80G>A (n.502+80G>A)
c.357G>A (p.Trp119Ter)
n.784G>A
c.470G>A (p.Gly157Glu)
c.717G>A (p.Trp239Ter)
n.641G>A
n.572G>A
17g.81868910C>ACA401523400ARHGDIAc.581G>T (p.Trp194Leu)
c.449G>T (p.Trp150Leu)
c.502+79G>T (n.502+79G>T)
c.356G>T (p.Trp119Leu)
n.783G>T
c.469G>T (p.Gly157Ter)
c.716G>T (p.Trp239Leu)
n.640G>T
n.571G>T
17g.81868910C>GCA401523401ARHGDIAc.581G>C (p.Trp194Ser)
c.449G>C (p.Trp150Ser)
c.502+79G>C (n.502+79G>C)
c.356G>C (p.Trp119Ser)
n.783G>C
c.469G>C (p.Gly157Arg)
c.716G>C (p.Trp239Ser)
n.640G>C
n.571G>C
17g.81868910C>TCA401523403ARHGDIAc.581G>A (p.Trp194Ter)
c.449G>A (p.Trp150Ter)
c.502+79G>A (n.502+79G>A)
c.356G>A (p.Trp119Ter)
n.783G>A
c.469G>A (p.Gly157Arg)
c.716G>A (p.Trp239Ter)
n.640G>A
n.571G>A
 gnomAD v4
17g.81868911A>CCA401523405ARHGDIAc.580T>G (p.Trp194Gly)
c.448T>G (p.Trp150Gly)
c.502+78T>G (n.502+78T>G)
c.355T>G (p.Trp119Gly)
n.782T>G
c.468T>G (p.Ser156Arg)
c.715T>G (p.Trp239Gly)
n.639T>G
n.570T>G
17g.81868911A>GCA401523407ARHGDIAc.580T>C (p.Trp194Arg)
c.448T>C (p.Trp150Arg)
c.502+78T>C (n.502+78T>C)
c.355T>C (p.Trp119Arg)
n.782T>C
c.468T>C (p.Ser156=)
c.715T>C (p.Trp239Arg)
n.639T>C
n.570T>C
17g.81868911A>TCA401523409ARHGDIAc.580T>A (p.Trp194Arg)
c.448T>A (p.Trp150Arg)
c.502+78T>A (n.502+78T>A)
c.355T>A (p.Trp119Arg)
n.782T>A
c.468T>A (p.Ser156Arg)
c.715T>A (p.Trp239Arg)
n.639T>A
n.570T>A
17g.81868912C>ACA401523414ARHGDIAc.579G>T (p.Glu193Asp)
c.447G>T (p.Glu149Asp)
c.502+77G>T (n.502+77G>T)
c.354G>T (p.Glu118Asp)
n.781G>T
c.467G>T (p.Ser156Ile)
c.714G>T (p.Glu238Asp)
n.638G>T
n.569G>T
17g.81868912C=CA2278712683ARHGDIAc.579G= (p.Glu193=)
c.447G= (p.Glu149=)
c.502+77G= (n.502+77G=)
c.354G= (p.Glu118=)
n.781G=
c.467G= (p.Ser156=)
c.714G= (p.Glu238=)
n.638G=
n.569G=
17g.81868912C>GCA8843197ARHGDIAc.579G>C (p.Glu193Asp)
c.447G>C (p.Glu149Asp)
c.502+77G>C (n.502+77G>C)
c.354G>C (p.Glu118Asp)
n.781G>C
c.467G>C (p.Ser156Thr)
c.714G>C (p.Glu238Asp)
n.638G>C
n.569G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81868912C>TCA401523411ARHGDIAc.579G>A (p.Glu193=)
c.447G>A (p.Glu149=)
c.502+77G>A (n.502+77G>A)
c.354G>A (p.Glu118=)
n.781G>A
c.467G>A (p.Ser156Asn)
c.714G>A (p.Glu238=)
n.638G>A
n.569G>A
 gnomAD v4
17g.81868913T>ACA401523417ARHGDIAc.578A>T (p.Glu193Val)
c.446A>T (p.Glu149Val)
c.502+76A>T (n.502+76A>T)
c.353A>T (p.Glu118Val)
n.780A>T
c.466A>T (p.Ser156Cys)
c.713A>T (p.Glu238Val)
n.637A>T
n.568A>T
17g.81868913T>CCA401523421ARHGDIAc.578A>G (p.Glu193Gly)
c.446A>G (p.Glu149Gly)
c.502+76A>G (n.502+76A>G)
c.353A>G (p.Glu118Gly)
n.780A>G
c.466A>G (p.Ser156Gly)
c.713A>G (p.Glu238Gly)
n.637A>G
n.568A>G
 dbSNP gnomAD v2 gnomAD v4
17g.81868913T>GCA401523419ARHGDIAc.578A>C (p.Glu193Ala)
c.446A>C (p.Glu149Ala)
c.502+76A>C (n.502+76A>C)
c.353A>C (p.Glu118Ala)
n.780A>C
c.466A>C (p.Ser156Arg)
c.713A>C (p.Glu238Ala)
n.637A>C
n.568A>C
17g.81868913T=CA2278712684ARHGDIAc.578A= (p.Glu193=)
c.446A= (p.Glu149=)
c.502+76A= (n.502+76A=)
c.353A= (p.Glu118=)
n.780A=
c.466A= (p.Ser156=)
c.713A= (p.Glu238=)
n.637A=
n.568A=
17g.81868914C>ACA401523425ARHGDIAc.577G>T (p.Glu193Ter)
c.445G>T (p.Glu149Ter)
c.502+75G>T (n.502+75G>T)
c.352G>T (p.Glu118Ter)
n.779G>T
c.465G>T (p.Gly155=)
c.712G>T (p.Glu238Ter)
n.636G>T
n.567G>T
17g.81868914C>GCA401523426ARHGDIAc.577G>C (p.Glu193Gln)
c.445G>C (p.Glu149Gln)
c.502+75G>C (n.502+75G>C)
c.352G>C (p.Glu118Gln)
n.779G>C
c.465G>C (p.Gly155=)
c.712G>C (p.Glu238Gln)
n.636G>C
n.567G>C
17g.81868914C>TCA401523428ARHGDIAc.577G>A (p.Glu193Lys)
c.445G>A (p.Glu149Lys)
c.502+75G>A (n.502+75G>A)
c.352G>A (p.Glu118Lys)
n.779G>A
c.465G>A (p.Gly155=)
c.712G>A (p.Glu238Lys)
n.636G>A
n.567G>A
17g.81868915C>ACA401523430ARHGDIAc.576G>T (p.Trp192Cys)
c.444G>T (p.Trp148Cys)
c.502+74G>T (n.502+74G>T)
c.351G>T (p.Trp117Cys)
n.778G>T
c.464G>T (p.Gly155Val)
c.711G>T (p.Trp237Cys)
n.635G>T
n.566G>T
17g.81868915C>GCA401523431ARHGDIAc.576G>C (p.Trp192Cys)
c.444G>C (p.Trp148Cys)
c.502+74G>C (n.502+74G>C)
c.351G>C (p.Trp117Cys)
n.778G>C
c.464G>C (p.Gly155Ala)
c.711G>C (p.Trp237Cys)
n.635G>C
n.566G>C
17g.81868915C>TCA401523437ARHGDIAc.576G>A (p.Trp192Ter)
c.444G>A (p.Trp148Ter)
c.502+74G>A (n.502+74G>A)
c.351G>A (p.Trp117Ter)
n.778G>A
c.464G>A (p.Gly155Glu)
c.711G>A (p.Trp237Ter)
n.635G>A
n.566G>A
17g.81868916C>ACA401523438ARHGDIAc.575G>T (p.Trp192Leu)
c.443G>T (p.Trp148Leu)
c.502+73G>T (n.502+73G>T)
c.350G>T (p.Trp117Leu)
n.777G>T
c.463G>T (p.Gly155Trp)
c.710G>T (p.Trp237Leu)
n.634G>T
n.565G>T
 gnomAD v4
17g.81868916C>GCA401523440ARHGDIAc.575G>C (p.Trp192Ser)
c.443G>C (p.Trp148Ser)
c.502+73G>C (n.502+73G>C)
c.350G>C (p.Trp117Ser)
n.777G>C
c.463G>C (p.Gly155Arg)
c.710G>C (p.Trp237Ser)
n.634G>C
n.565G>C
17g.81868916C>TCA401523442ARHGDIAc.575G>A (p.Trp192Ter)
c.443G>A (p.Trp148Ter)
c.502+73G>A (n.502+73G>A)
c.350G>A (p.Trp117Ter)
n.777G>A
c.463G>A (p.Gly155Arg)
c.710G>A (p.Trp237Ter)
n.634G>A
n.565G>A
17g.81868917A>CCA401523445ARHGDIAc.574T>G (p.Trp192Gly)
c.442T>G (p.Trp148Gly)
c.502+72T>G (n.502+72T>G)
c.349T>G (p.Trp117Gly)
n.776T>G
c.462T>G (p.Pro154=)
c.709T>G (p.Trp237Gly)
n.633T>G
n.564T>G
17g.81868917A>GCA401523447ARHGDIAc.574T>C (p.Trp192Arg)
c.442T>C (p.Trp148Arg)
c.502+72T>C (n.502+72T>C)
c.349T>C (p.Trp117Arg)
n.776T>C
c.462T>C (p.Pro154=)
c.709T>C (p.Trp237Arg)
n.633T>C
n.564T>C
17g.81868917A>TCA401523448ARHGDIAc.574T>A (p.Trp192Arg)
c.442T>A (p.Trp148Arg)
c.502+72T>A (n.502+72T>A)
c.349T>A (p.Trp117Arg)
n.776T>A
c.462T>A (p.Pro154=)
c.709T>A (p.Trp237Arg)
n.633T>A
n.564T>A
17g.81868918G>ACA8843198ARHGDIAc.573C>T (p.Ser191=)
c.441C>T (p.Ser147=)
c.502+71C>T (n.502+71C>T)
c.348C>T (p.Ser116=)
n.775C>T
c.461C>T (p.Pro154Leu)
c.708C>T (p.Ser236=)
n.632C>T
n.563C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81868918G>CCA401523452ARHGDIAc.573C>G (p.Ser191=)
c.441C>G (p.Ser147=)
c.502+71C>G (n.502+71C>G)
c.348C>G (p.Ser116=)
n.775C>G
c.461C>G (p.Pro154Arg)
c.708C>G (p.Ser236=)
n.632C>G
n.563C>G
 dbSNP gnomAD v4
17g.81868918G=CA2278712685ARHGDIAc.573C= (p.Ser191=)
c.441C= (p.Ser147=)
c.502+71C= (n.502+71C=)
c.348C= (p.Ser116=)
n.775C=
c.461C= (p.Pro154=)
c.708C= (p.Ser236=)
n.632C=
n.563C=
17g.81868918G>TCA401523455ARHGDIAc.573C>A (p.Ser191=)
c.441C>A (p.Ser147=)
c.502+71C>A (n.502+71C>A)
c.348C>A (p.Ser116=)
n.775C>A
c.461C>A (p.Pro154His)
c.708C>A (p.Ser236=)
n.632C>A
n.563C>A
17g.81868919G>ACA8843199ARHGDIAc.572C>T (p.Ser191Phe)
c.440C>T (p.Ser147Phe)
c.502+70C>T (n.502+70C>T)
c.347C>T (p.Ser116Phe)
n.774C>T
c.460C>T (p.Pro154Ser)
c.707C>T (p.Ser236Phe)
n.631C>T
n.562C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81868919G>CCA401523462ARHGDIAc.572C>G (p.Ser191Cys)
c.440C>G (p.Ser147Cys)
c.502+70C>G (n.502+70C>G)
c.347C>G (p.Ser116Cys)
n.774C>G
c.460C>G (p.Pro154Ala)
c.707C>G (p.Ser236Cys)
n.631C>G
n.562C>G
 gnomAD v4
17g.81868919G=CA2278712686ARHGDIAc.572C= (p.Ser191=)
c.440C= (p.Ser147=)
c.502+70C= (n.502+70C=)
c.347C= (p.Ser116=)
n.774C=
c.460C= (p.Pro154=)
c.707C= (p.Ser236=)
n.631C=
n.562C=
17g.81868919G>TCA401523465ARHGDIAc.572C>A (p.Ser191Tyr)
c.440C>A (p.Ser147Tyr)
c.502+70C>A (n.502+70C>A)
c.347C>A (p.Ser116Tyr)
n.774C>A
c.460C>A (p.Pro154Thr)
c.707C>A (p.Ser236Tyr)
n.631C>A
n.562C>A
17g.81868920A>CCA401523468ARHGDIAc.571T>G (p.Ser191Ala)
c.439T>G (p.Ser147Ala)
c.502+69T>G (n.502+69T>G)
c.346T>G (p.Ser116Ala)
n.773T>G
c.459T>G (p.Cys153Trp)
c.706T>G (p.Ser236Ala)
n.630T>G
n.561T>G
17g.81868920A>GCA401523470ARHGDIAc.571T>C (p.Ser191Pro)
c.439T>C (p.Ser147Pro)
c.502+69T>C (n.502+69T>C)
c.346T>C (p.Ser116Pro)
n.773T>C
c.459T>C (p.Cys153=)
c.706T>C (p.Ser236Pro)
n.630T>C
n.561T>C
17g.81868920A>TCA401523473ARHGDIAc.571T>A (p.Ser191Thr)
c.439T>A (p.Ser147Thr)
c.502+69T>A (n.502+69T>A)
c.346T>A (p.Ser116Thr)
n.773T>A
c.459T>A (p.Cys153Ter)
c.706T>A (p.Ser236Thr)
n.630T>A
n.561T>A
17g.81868921C>ACA401523477ARHGDIAc.570G>T (p.Leu190=)
c.438G>T (p.Leu146=)
c.502+68G>T (n.502+68G>T)
c.345G>T (p.Leu115=)
n.772G>T
c.458G>T (p.Cys153Phe)
c.705G>T (p.Leu235=)
n.629G>T
n.560G>T
17g.81868921C>GCA401523480ARHGDIAc.570G>C (p.Leu190=)
c.438G>C (p.Leu146=)
c.502+68G>C (n.502+68G>C)
c.345G>C (p.Leu115=)
n.772G>C
c.458G>C (p.Cys153Ser)
c.705G>C (p.Leu235=)
n.629G>C
n.560G>C
17g.81868921C>TCA401523483ARHGDIAc.570G>A (p.Leu190=)
c.438G>A (p.Leu146=)
c.502+68G>A (n.502+68G>A)
c.345G>A (p.Leu115=)
n.772G>A
c.458G>A (p.Cys153Tyr)
c.705G>A (p.Leu235=)
n.629G>A
n.560G>A
17g.81868922A>CCA401523486ARHGDIAc.569T>G (p.Leu190Arg)
c.437T>G (p.Leu146Arg)
c.502+67T>G (n.502+67T>G)
c.*213T>G (n.*213T>G)
c.344T>G (p.Leu115Arg)
n.771T>G
c.457T>G (p.Cys153Gly)
c.704T>G (p.Leu235Arg)
n.628T>G
n.559T>G
17g.81868922A>GCA401523489ARHGDIAc.569T>C (p.Leu190Pro)
c.437T>C (p.Leu146Pro)
c.502+67T>C (n.502+67T>C)
c.*213T>C (n.*213T>C)
c.344T>C (p.Leu115Pro)
n.771T>C
c.457T>C (p.Cys153Arg)
c.704T>C (p.Leu235Pro)
n.628T>C
n.559T>C
17g.81868922A>TCA401523492ARHGDIAc.569T>A (p.Leu190Gln)
c.437T>A (p.Leu146Gln)
c.502+67T>A (n.502+67T>A)
c.*213T>A (n.*213T>A)
c.344T>A (p.Leu115Gln)
n.771T>A
c.457T>A (p.Cys153Ser)
c.704T>A (p.Leu235Gln)
n.628T>A
n.559T>A
17g.81868923G>ACA502424966ARHGDIAc.568C>T (p.Leu190=)
c.436C>T (p.Leu146=)
c.502+66C>T (n.502+66C>T)
c.*212C>T (n.*212C>T)
c.343C>T (p.Leu115=)
n.770C>T
c.456C>T (p.Thr152=)
c.703C>T (p.Leu235=)
n.627C>T
n.558C>T
17g.81868923G>CCA401523495ARHGDIAc.568C>G (p.Leu190Val)
c.436C>G (p.Leu146Val)
c.502+66C>G (n.502+66C>G)
c.*212C>G (n.*212C>G)
c.343C>G (p.Leu115Val)
n.770C>G
c.456C>G (p.Thr152=)
c.703C>G (p.Leu235Val)
n.627C>G
n.558C>G
17g.81868923G>TCA401523496ARHGDIAc.568C>A (p.Leu190Met)
c.436C>A (p.Leu146Met)
c.502+66C>A (n.502+66C>A)
c.*212C>A (n.*212C>A)
c.343C>A (p.Leu115Met)
n.770C>A
c.456C>A (p.Thr152=)
c.703C>A (p.Leu235Met)
n.627C>A
n.558C>A
17g.81868924G>ACA401523500ARHGDIAc.567C>T (p.His189=)
c.435C>T (p.His145=)
c.502+65C>T (n.502+65C>T)
c.*211C>T (n.*211C>T)
c.342C>T (p.His114=)
n.769C>T
c.455C>T (p.Thr152Ile)
c.702C>T (p.His234=)
n.626C>T
n.557C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.81868924G>CCA401523502ARHGDIAc.567C>G (p.His189Gln)
c.435C>G (p.His145Gln)
c.502+65C>G (n.502+65C>G)
c.*211C>G (n.*211C>G)
c.342C>G (p.His114Gln)
n.769C>G
c.455C>G (p.Thr152Ser)
c.702C>G (p.His234Gln)
n.626C>G
n.557C>G
17g.81868924G=CA2278712687ARHGDIAc.567C= (p.His189=)
c.435C= (p.His145=)
c.502+65C= (n.502+65C=)
c.*211C= (n.*211C=)
c.342C= (p.His114=)
n.769C=
c.455C= (p.Thr152=)
c.702C= (p.His234=)
n.626C=
n.557C=
17g.81868924G>TCA401523504ARHGDIAc.567C>A (p.His189Gln)
c.435C>A (p.His145Gln)
c.502+65C>A (n.502+65C>A)
c.*211C>A (n.*211C>A)
c.342C>A (p.His114Gln)
n.769C>A
c.455C>A (p.Thr152Asn)
c.702C>A (p.His234Gln)
n.626C>A
n.557C>A
17g.81868925T>ACA401523506ARHGDIAc.566A>T (p.His189Leu)
c.434A>T (p.His145Leu)
c.502+64A>T (n.502+64A>T)
c.*210A>T (n.*210A>T)
c.341A>T (p.His114Leu)
n.768A>T
c.454A>T (p.Thr152Ser)
c.701A>T (p.His234Leu)
n.625A>T
n.556A>T
17g.81868925T>CCA401523509ARHGDIAc.566A>G (p.His189Arg)
c.434A>G (p.His145Arg)
c.502+64A>G (n.502+64A>G)
c.*210A>G (n.*210A>G)
c.341A>G (p.His114Arg)
n.768A>G
c.454A>G (p.Thr152Ala)
c.701A>G (p.His234Arg)
n.625A>G
n.556A>G
17g.81868925T>GCA401523512ARHGDIAc.566A>C (p.His189Pro)
c.434A>C (p.His145Pro)
c.502+64A>C (n.502+64A>C)
c.*210A>C (n.*210A>C)
c.341A>C (p.His114Pro)
n.768A>C
c.454A>C (p.Thr152Pro)
c.701A>C (p.His234Pro)
n.625A>C
n.556A>C
 gnomAD v4
17g.81868926G>ACA8843200ARHGDIAc.565C>T (p.His189Tyr)
c.433C>T (p.His145Tyr)
c.502+63C>T (n.502+63C>T)
c.*209C>T (n.*209C>T)
c.340C>T (p.His114Tyr)
n.767C>T
c.453C>T (p.Thr151=)
c.700C>T (p.His234Tyr)
n.624C>T
n.555C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81868926G>CCA401523516ARHGDIAc.565C>G (p.His189Asp)
c.433C>G (p.His145Asp)
c.502+63C>G (n.502+63C>G)
c.*209C>G (n.*209C>G)
c.340C>G (p.His114Asp)
n.767C>G
c.453C>G (p.Thr151=)
c.700C>G (p.His234Asp)
n.624C>G
n.555C>G
17g.81868926G=CA2278712688ARHGDIAc.565C= (p.His189=)
c.433C= (p.His145=)
c.502+63C= (n.502+63C=)
c.*209C= (n.*209C=)
c.340C= (p.His114=)
n.767C=
c.453C= (p.Thr151=)
c.700C= (p.His234=)
n.624C=
n.555C=
17g.81868926G>TCA401523521ARHGDIAc.565C>A (p.His189Asn)
c.433C>A (p.His145Asn)
c.502+63C>A (n.502+63C>A)
c.*209C>A (n.*209C>A)
c.340C>A (p.His114Asn)
n.767C>A
c.453C>A (p.Thr151=)
c.700C>A (p.His234Asn)
n.624C>A
n.555C>A
17g.81868927G>ACA8843201ARHGDIAc.564C>T (p.Asp188=)
c.432C>T (p.Asp144=)
c.502+62C>T (n.502+62C>T)
c.*208C>T (n.*208C>T)
c.339C>T (p.Asp113=)
n.766C>T
c.452C>T (p.Thr151Ile)
c.699C>T (p.Asp233=)
n.623C>T
n.554C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81868927G>CCA401523524ARHGDIAc.564C>G (p.Asp188Glu)
c.432C>G (p.Asp144Glu)
c.502+62C>G (n.502+62C>G)
c.*208C>G (n.*208C>G)
c.339C>G (p.Asp113Glu)
n.766C>G
c.452C>G (p.Thr151Ser)
c.699C>G (p.Asp233Glu)
n.623C>G
n.554C>G
 dbSNP gnomAD v2 gnomAD v4
17g.81868927G=CA2278712689ARHGDIAc.564C= (p.Asp188=)
c.432C= (p.Asp144=)
c.502+62C= (n.502+62C=)
c.*208C= (n.*208C=)
c.339C= (p.Asp113=)
n.766C=
c.452C= (p.Thr151=)
c.699C= (p.Asp233=)
n.623C=
n.554C=
17g.81868927G>TCA401523527ARHGDIAc.564C>A (p.Asp188Glu)
c.432C>A (p.Asp144Glu)
c.502+62C>A (n.502+62C>A)
c.*208C>A (n.*208C>A)
c.339C>A (p.Asp113Glu)
n.766C>A
c.452C>A (p.Thr151Asn)
c.699C>A (p.Asp233Glu)
n.623C>A
n.554C>A
 gnomAD v4
17g.81868928T>ACA401523536ARHGDIAc.563A>T (p.Asp188Val)
c.431A>T (p.Asp144Val)
c.502+61A>T (n.502+61A>T)
c.*207A>T (n.*207A>T)
c.338A>T (p.Asp113Val)
n.765A>T
c.451A>T (p.Thr151Ser)
c.698A>T (p.Asp233Val)
n.622A>T
n.553A>T
17g.81868928T>CCA401523534ARHGDIAc.563A>G (p.Asp188Gly)
c.431A>G (p.Asp144Gly)
c.502+61A>G (n.502+61A>G)
c.*207A>G (n.*207A>G)
c.338A>G (p.Asp113Gly)
n.765A>G
c.451A>G (p.Thr151Ala)
c.698A>G (p.Asp233Gly)
n.622A>G
n.553A>G
 gnomAD v4
17g.81868928T>GCA401523531ARHGDIAc.563A>C (p.Asp188Ala)
c.431A>C (p.Asp144Ala)
c.502+61A>C (n.502+61A>C)
c.*207A>C (n.*207A>C)
c.338A>C (p.Asp113Ala)
n.765A>C
c.451A>C (p.Thr151Pro)
c.698A>C (p.Asp233Ala)
n.622A>C
n.553A>C
17g.81868929C>ACA8843202ARHGDIAc.562G>T (p.Asp188Tyr)
c.430G>T (p.Asp144Tyr)
c.502+60G>T (n.502+60G>T)
c.*206G>T (n.*206G>T)
c.337G>T (p.Asp113Tyr)
n.764G>T
c.450G>T (p.Pro150=)
c.697G>T (p.Asp233Tyr)
n.621G>T
n.552G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.81868929C=CA2278712690ARHGDIAc.562G= (p.Asp188=)
c.430G= (p.Asp144=)
c.502+60G= (n.502+60G=)
c.*206G= (n.*206G=)
c.337G= (p.Asp113=)
n.764G=
c.450G= (p.Pro150=)
c.697G= (p.Asp233=)
n.621G=
n.552G=
17g.81868929C>GCA401523543ARHGDIAc.562G>C (p.Asp188His)
c.430G>C (p.Asp144His)
c.502+60G>C (n.502+60G>C)
c.*206G>C (n.*206G>C)
c.337G>C (p.Asp113His)
n.764G>C
c.450G>C (p.Pro150=)
c.697G>C (p.Asp233His)
n.621G>C
n.552G>C
17g.81868929C>TCA401523545ARHGDIAc.562G>A (p.Asp188Asn)
c.430G>A (p.Asp144Asn)
c.502+60G>A (n.502+60G>A)
c.*206G>A (n.*206G>A)
c.337G>A (p.Asp113Asn)
n.764G>A
c.450G>A (p.Pro150=)
c.697G>A (p.Asp233Asn)
n.621G>A
n.552G>A
 gnomAD v4
17g.81868930G>ACA8843203ARHGDIAc.561C>T (p.Thr187=)
c.429C>T (p.Thr143=)
c.502+59C>T (n.502+59C>T)
c.*205C>T (n.*205C>T)
c.336C>T (p.Thr112=)
n.763C>T
c.449C>T (p.Pro150Leu)
c.696C>T (p.Thr232=)
n.620C>T
n.551C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81868930G>CCA401523550ARHGDIAc.561C>G (p.Thr187=)
c.429C>G (p.Thr143=)
c.502+59C>G (n.502+59C>G)
c.*205C>G (n.*205C>G)
c.336C>G (p.Thr112=)
n.763C>G
c.449C>G (p.Pro150Arg)
c.696C>G (p.Thr232=)
n.620C>G
n.551C>G
 dbSNP
17g.81868930G=CA2278712691ARHGDIAc.561C= (p.Thr187=)
c.429C= (p.Thr143=)
c.502+59C= (n.502+59C=)
c.*205C= (n.*205C=)
c.336C= (p.Thr112=)
n.763C=
c.449C= (p.Pro150=)
c.696C= (p.Thr232=)
n.620C=
n.551C=
17g.81868930G>TCA295137635ARHGDIAc.561C>A (p.Thr187=)
c.429C>A (p.Thr143=)
c.502+59C>A (n.502+59C>A)
c.*205C>A (n.*205C>A)
c.336C>A (p.Thr112=)
n.763C>A
c.449C>A (p.Pro150Gln)
c.696C>A (p.Thr232=)
n.620C>A
n.551C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.81868931G>ACA401523556ARHGDIAc.560C>T (p.Thr187Ile)
c.428C>T (p.Thr143Ile)
c.502+58C>T (n.502+58C>T)
c.*204C>T (n.*204C>T)
c.335C>T (p.Thr112Ile)
n.762C>T
c.448C>T (p.Pro150Ser)
c.695C>T (p.Thr232Ile)
n.619C>T
n.550C>T
 gnomAD v4
17g.81868931G>CCA401523559ARHGDIAc.560C>G (p.Thr187Ser)
c.428C>G (p.Thr143Ser)
c.502+58C>G (n.502+58C>G)
c.*204C>G (n.*204C>G)
c.335C>G (p.Thr112Ser)
n.762C>G
c.448C>G (p.Pro150Ala)
c.695C>G (p.Thr232Ser)
n.619C>G
n.550C>G
17g.81868931G=CA2278712692ARHGDIAc.560C= (p.Thr187=)
c.428C= (p.Thr143=)
c.502+58C= (n.502+58C=)
c.*204C= (n.*204C=)
c.335C= (p.Thr112=)
n.762C=
c.448C= (p.Pro150=)
c.695C= (p.Thr232=)
n.619C=
n.550C=
17g.81868931G>TCA401523561ARHGDIAc.560C>A (p.Thr187Asn)
c.428C>A (p.Thr143Asn)
c.502+58C>A (n.502+58C>A)
c.*204C>A (n.*204C>A)
c.335C>A (p.Thr112Asn)
n.762C>A
c.448C>A (p.Pro150Thr)
c.695C>A (p.Thr232Asn)
n.619C>A
n.550C>A
 ClinVar dbSNP gnomAD v4
17g.81868932T>ACA401523564ARHGDIAc.559A>T (p.Thr187Ser)
c.427A>T (p.Thr143Ser)
c.502+57A>T (n.502+57A>T)
c.*203A>T (n.*203A>T)
c.334A>T (p.Thr112Ser)
n.761A>T
c.447A>T (p.Arg149Ser)
c.694A>T (p.Thr232Ser)
n.618A>T
n.549A>T
17g.81868932T>CCA401523567ARHGDIAc.559A>G (p.Thr187Ala)
c.427A>G (p.Thr143Ala)
c.502+57A>G (n.502+57A>G)
c.*203A>G (n.*203A>G)
c.334A>G (p.Thr112Ala)
n.761A>G
c.447A>G (p.Arg149=)
c.694A>G (p.Thr232Ala)
n.618A>G
n.549A>G
17g.81868932T>GCA401523569ARHGDIAc.559A>C (p.Thr187Pro)
c.427A>C (p.Thr143Pro)
c.502+57A>C (n.502+57A>C)
c.*203A>C (n.*203A>C)
c.334A>C (p.Thr112Pro)
n.761A>C
c.447A>C (p.Arg149Ser)
c.694A>C (p.Thr232Pro)
n.618A>C
n.549A>C
17g.81868933C>ACA401523573ARHGDIAc.558G>T (p.Lys186Asn)
c.426G>T (p.Lys142Asn)
c.502+56G>T (n.502+56G>T)
c.*202G>T (n.*202G>T)
c.333G>T (p.Lys111Asn)
n.760G>T
c.446G>T (p.Arg149Ile)
c.693G>T (p.Lys231Asn)
n.617G>T
n.548G>T
17g.81868933C=CA2278712693ARHGDIAc.558G= (p.Lys186=)
c.426G= (p.Lys142=)
c.502+56G= (n.502+56G=)
c.*202G= (n.*202G=)
c.333G= (p.Lys111=)
n.760G=
c.446G= (p.Arg149=)
c.693G= (p.Lys231=)
n.617G=
n.548G=
17g.81868933C>GCA401523576ARHGDIAc.558G>C (p.Lys186Asn)
c.426G>C (p.Lys142Asn)
c.502+56G>C (n.502+56G>C)
c.*202G>C (n.*202G>C)
c.333G>C (p.Lys111Asn)
n.760G>C
c.446G>C (p.Arg149Thr)
c.693G>C (p.Lys231Asn)
n.617G>C
n.548G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.81868933C>TCA401523574ARHGDIAc.558G>A (p.Lys186=)
c.426G>A (p.Lys142=)
c.502+56G>A (n.502+56G>A)
c.*202G>A (n.*202G>A)
c.333G>A (p.Lys111=)
n.760G>A
c.446G>A (p.Arg149Lys)
c.693G>A (p.Lys231=)
n.617G>A
n.548G>A
 dbSNP
17g.81868934T>ACA401523580ARHGDIAc.557A>T (p.Lys186Met)
c.425A>T (p.Lys142Met)
c.502+55A>T (n.502+55A>T)
c.*201A>T (n.*201A>T)
c.332A>T (p.Lys111Met)
n.759A>T
c.445A>T (p.Arg149Ter)
c.692A>T (p.Lys231Met)
n.616A>T
n.547A>T
17g.81868934T>CCA401523583ARHGDIAc.557A>G (p.Lys186Arg)
c.425A>G (p.Lys142Arg)
c.502+55A>G (n.502+55A>G)
c.*201A>G (n.*201A>G)
c.332A>G (p.Lys111Arg)
n.759A>G
c.445A>G (p.Arg149Gly)
c.692A>G (p.Lys231Arg)
n.616A>G
n.547A>G
 gnomAD v4
17g.81868934T>GCA401523582ARHGDIAc.557A>C (p.Lys186Thr)
c.425A>C (p.Lys142Thr)
c.502+55A>C (n.502+55A>C)
c.*201A>C (n.*201A>C)
c.332A>C (p.Lys111Thr)
n.759A>C
c.445A>C (p.Arg149=)
c.692A>C (p.Lys231Thr)
n.616A>C
n.547A>C
17g.81868935T>ACA401523586ARHGDIAc.556A>T (p.Lys186Ter)
c.424A>T (p.Lys142Ter)
c.502+54A>T (n.502+54A>T)
c.*200A>T (n.*200A>T)
c.331A>T (p.Lys111Ter)
n.758A>T
c.444A>T (p.Thr148=)
c.691A>T (p.Lys231Ter)
n.615A>T
n.546A>T
17g.81868935T>CCA401523593ARHGDIAc.556A>G (p.Lys186Glu)
c.424A>G (p.Lys142Glu)
c.502+54A>G (n.502+54A>G)
c.*200A>G (n.*200A>G)
c.331A>G (p.Lys111Glu)
n.758A>G
c.444A>G (p.Thr148=)
c.691A>G (p.Lys231Glu)
n.615A>G
n.546A>G
17g.81868935T>GCA401523589ARHGDIAc.556A>C (p.Lys186Gln)
c.424A>C (p.Lys142Gln)
c.502+54A>C (n.502+54A>C)
c.*200A>C (n.*200A>C)
c.331A>C (p.Lys111Gln)
n.758A>C
c.444A>C (p.Thr148=)
c.691A>C (p.Lys231Gln)
n.615A>C
n.546A>C
17g.81868935_81868938delinsTGTCCA2278712694ARHGDIAc.553_556delinsGACA (p.Asp185=)
c.421_424delinsGACA (p.Asp141=)
c.502+51_502+54delinsGACA (n.502+51_502+54delinsGACA)
c.*197_*200delinsGACA (n.*197_*200delinsGACA)
c.328_331delinsGACA (p.Asp110=)
n.755_758delinsGACA
c.441_444delinsGACA (p.Thr147=)
c.688_691delinsGACA (p.Asp230=)
n.612_615delinsGACA
n.543_546delinsGACA
17g.81868936G>ACA401523597ARHGDIAc.555C>T (p.Asp185=)
c.423C>T (p.Asp141=)
c.502+53C>T (n.502+53C>T)
c.*199C>T (n.*199C>T)
c.330C>T (p.Asp110=)
n.757C>T
c.443C>T (p.Thr148Ile)
c.690C>T (p.Asp230=)
n.614C>T
n.545C>T
17g.81868936G>CCA401523602ARHGDIAc.555C>G (p.Asp185Glu)
c.423C>G (p.Asp141Glu)
c.502+53C>G (n.502+53C>G)
c.*199C>G (n.*199C>G)
c.330C>G (p.Asp110Glu)
n.757C>G
c.443C>G (p.Thr148Arg)
c.690C>G (p.Asp230Glu)
n.614C>G
n.545C>G
 ClinVar
17g.81868936G>TCA401523605ARHGDIAc.555C>A (p.Asp185Glu)
c.423C>A (p.Asp141Glu)
c.502+53C>A (n.502+53C>A)
c.*199C>A (n.*199C>A)
c.330C>A (p.Asp110Glu)
n.757C>A
c.443C>A (p.Thr148Lys)
c.690C>A (p.Asp230Glu)
n.614C>A
n.545C>A
17g.81868942_81868944delCA143755ARHGDIAc.553_555del (p.Asp185del)
c.421_423del
c.502+51_502+53del (n.502+51_502+53del)
c.*197_*199del (n.*197_*199del)
c.328_330del (p.Asp110del)
n.755_757del
c.441_443del
c.688_690del (p.Asp230del)
n.612_614del
n.543_545del
 ClinVar dbSNP gnomAD v4
17g.81868937T>ACA401523608ARHGDIAc.554A>T (p.Asp185Val)
c.422A>T (p.Asp141Val)
c.502+52A>T (n.502+52A>T)
c.*198A>T (n.*198A>T)
c.329A>T (p.Asp110Val)
n.756A>T
c.442A>T (p.Thr148Ser)
c.689A>T (p.Asp230Val)
n.613A>T
n.544A>T
17g.81868937T>CCA401523611ARHGDIAc.554A>G (p.Asp185Gly)
c.422A>G (p.Asp141Gly)
c.502+52A>G (n.502+52A>G)
c.*198A>G (n.*198A>G)
c.329A>G (p.Asp110Gly)
n.756A>G
c.442A>G (p.Thr148Ala)
c.689A>G (p.Asp230Gly)
n.613A>G
n.544A>G
17g.81868937T>GCA401523613ARHGDIAc.554A>C (p.Asp185Ala)
c.422A>C (p.Asp141Ala)
c.502+52A>C (n.502+52A>C)
c.*198A>C (n.*198A>C)
c.329A>C (p.Asp110Ala)
n.756A>C
c.442A>C (p.Thr148Pro)
c.689A>C (p.Asp230Ala)
n.613A>C
n.544A>C
17g.81868938C>ACA8843204ARHGDIAc.553G>T (p.Asp185Tyr)
c.421G>T (p.Asp141Tyr)
c.502+51G>T (n.502+51G>T)
c.*197G>T (n.*197G>T)
c.328G>T (p.Asp110Tyr)
n.755G>T
c.441G>T (p.Thr147=)
c.688G>T (p.Asp230Tyr)
n.612G>T
n.543G>T
 dbSNP ExAC gnomAD v2
17g.81868938C=CA2278712695ARHGDIAc.553G= (p.Asp185=)
c.421G= (p.Asp141=)
c.502+51G= (n.502+51G=)
c.*197G= (n.*197G=)
c.328G= (p.Asp110=)
n.755G=
c.441G= (p.Thr147=)
c.688G= (p.Asp230=)
n.612G=
n.543G=
17g.81868938C>GCA401523617ARHGDIAc.553G>C (p.Asp185His)
c.421G>C (p.Asp141His)
c.502+51G>C (n.502+51G>C)
c.*197G>C (n.*197G>C)
c.328G>C (p.Asp110His)
n.755G>C
c.441G>C (p.Thr147=)
c.688G>C (p.Asp230His)
n.612G>C
n.543G>C
17g.81868938C>TCA401523619ARHGDIAc.553G>A (p.Asp185Asn)
c.421G>A (p.Asp141Asn)
c.502+51G>A (n.502+51G>A)
c.*197G>A (n.*197G>A)
c.328G>A (p.Asp110Asn)
n.755G>A
c.441G>A (p.Thr147=)
c.688G>A (p.Asp230Asn)
n.612G>A
n.543G>A
 gnomAD v4
17g.81868939G>ACA8843205ARHGDIAc.552C>T (p.Asp184=)
c.420C>T (p.Asp140=)
c.502+50C>T (n.502+50C>T)
c.*196C>T (n.*196C>T)
c.327C>T (p.Asp109=)
n.754C>T
c.440C>T (p.Thr147Met)
c.687C>T (p.Asp229=)
n.611C>T
n.542C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81868939G>CCA401523623ARHGDIAc.552C>G (p.Asp184Glu)
c.420C>G (p.Asp140Glu)
c.502+50C>G (n.502+50C>G)
c.*196C>G (n.*196C>G)
c.327C>G (p.Asp109Glu)
n.754C>G
c.440C>G (p.Thr147Arg)
c.687C>G (p.Asp229Glu)
n.611C>G
n.542C>G
17g.81868939G=CA2278712696ARHGDIAc.552C= (p.Asp184=)
c.420C= (p.Asp140=)
c.502+50C= (n.502+50C=)
c.*196C= (n.*196C=)
c.327C= (p.Asp109=)
n.754C=
c.440C= (p.Thr147=)
c.687C= (p.Asp229=)
n.611C=
n.542C=
17g.81868939G>TCA401523625ARHGDIAc.552C>A (p.Asp184Glu)
c.420C>A (p.Asp140Glu)
c.502+50C>A (n.502+50C>A)
c.*196C>A (n.*196C>A)
c.327C>A (p.Asp109Glu)
n.754C>A
c.440C>A (p.Thr147Lys)
c.687C>A (p.Asp229Glu)
n.611C>A
n.542C>A
17g.81868940T>ACA401523629ARHGDIAc.551A>T (p.Asp184Val)
c.419A>T (p.Asp140Val)
c.502+49A>T (n.502+49A>T)
c.*195A>T (n.*195A>T)
c.326A>T (p.Asp109Val)
n.753A>T
c.439A>T (p.Thr147Ser)
c.686A>T (p.Asp229Val)
n.610A>T
n.541A>T
17g.81868940T>CCA401523631ARHGDIAc.551A>G (p.Asp184Gly)
c.419A>G (p.Asp140Gly)
c.502+49A>G (n.502+49A>G)
c.*195A>G (n.*195A>G)
c.326A>G (p.Asp109Gly)
n.753A>G
c.439A>G (p.Thr147Ala)
c.686A>G (p.Asp229Gly)
n.610A>G
n.541A>G
17g.81868940T>GCA401523634ARHGDIAc.551A>C (p.Asp184Ala)
c.419A>C (p.Asp140Ala)
c.502+49A>C (n.502+49A>C)
c.*195A>C (n.*195A>C)
c.326A>C (p.Asp109Ala)
n.753A>C
c.439A>C (p.Thr147Pro)
c.686A>C (p.Asp229Ala)
n.610A>C
n.541A>C
17g.81868941C>ACA401523637ARHGDIAc.550G>T (p.Asp184Tyr)
c.418G>T (p.Asp140Tyr)
c.502+48G>T (n.502+48G>T)
c.*194G>T (n.*194G>T)
c.325G>T (p.Asp109Tyr)
n.752G>T
c.438G>T (p.Thr146=)
c.685G>T (p.Asp229Tyr)
n.609G>T
n.540G>T
 gnomAD v4
17g.81868941C>GCA401523642ARHGDIAc.550G>C (p.Asp184His)
c.418G>C (p.Asp140His)
c.502+48G>C (n.502+48G>C)
c.*194G>C (n.*194G>C)
c.325G>C (p.Asp109His)
n.752G>C
c.438G>C (p.Thr146=)
c.685G>C (p.Asp229His)
n.609G>C
n.540G>C
17g.81868941C>TCA401523640ARHGDIAc.550G>A (p.Asp184Asn)
c.418G>A (p.Asp140Asn)
c.502+48G>A (n.502+48G>A)
c.*194G>A (n.*194G>A)
c.325G>A (p.Asp109Asn)
n.752G>A
c.438G>A (p.Thr146=)
c.685G>A (p.Asp229Asn)
n.609G>A
n.540G>A
17g.81868942G>ACA8843206ARHGDIAc.549C>T (p.Asp183=)
c.417C>T (p.Asn139=)
c.502+47C>T (n.502+47C>T)
c.*193C>T (n.*193C>T)
c.324C>T (p.Asp108=)
n.751C>T
c.437C>T (p.Thr146Met)
c.684C>T (p.Asp228=)
n.608C>T
n.539C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81868942G>CCA401523646ARHGDIAc.549C>G (p.Asp183Glu)
c.417C>G (p.Asn139Lys)
c.502+47C>G (n.502+47C>G)
c.*193C>G (n.*193C>G)
c.324C>G (p.Asp108Glu)
n.751C>G
c.437C>G (p.Thr146Arg)
c.684C>G (p.Asp228Glu)
n.608C>G
n.539C>G
17g.81868942G=CA2278712697ARHGDIAc.549C= (p.Asp183=)
c.417C= (p.Asn139=)
c.502+47C= (n.502+47C=)
c.*193C= (n.*193C=)
c.324C= (p.Asp108=)
n.751C=
c.437C= (p.Thr146=)
c.684C= (p.Asp228=)
n.608C=
n.539C=
17g.81868942G>TCA401523650ARHGDIAc.549C>A (p.Asp183Glu)
c.417C>A (p.Asn139Lys)
c.502+47C>A (n.502+47C>A)
c.*193C>A (n.*193C>A)
c.324C>A (p.Asp108Glu)
n.751C>A
c.437C>A (p.Thr146Lys)
c.684C>A (p.Asp228Glu)
n.608C>A
n.539C>A
17g.81868942dupCA2640523462ARHGDIAc.549dup (p.Asp184ArgfsTer?)
c.417dup (p.Asp140ArgfsTer?)
c.502+47dup (n.502+47dup)
c.*193dup (n.*193dup)
c.324dup (p.Asp109ArgfsTer?)
n.751dup
c.437dup (p.Thr147AspfsTer22)
c.684dup (p.Asp229ArgfsTer?)
n.608dup
n.539dup
 gnomAD v4
17g.81868943T>ACA401523654ARHGDIAc.548A>T (p.Asp183Val)
c.416A>T (p.Asn139Ile)
c.502+46A>T (n.502+46A>T)
c.*192A>T (n.*192A>T)
c.323A>T (p.Asp108Val)
n.750A>T
c.436A>T (p.Thr146Ser)
c.683A>T (p.Asp228Val)
n.607A>T
n.538A>T
17g.81868943T>CCA401523657ARHGDIAc.548A>G (p.Asp183Gly)
c.416A>G (p.Asn139Ser)
c.502+46A>G (n.502+46A>G)
c.*192A>G (n.*192A>G)
c.323A>G (p.Asp108Gly)
n.750A>G
c.436A>G (p.Thr146Ala)
c.683A>G (p.Asp228Gly)
n.607A>G
n.538A>G
17g.81868943T>GCA401523660ARHGDIAc.548A>C (p.Asp183Ala)
c.416A>C (p.Asn139Thr)
c.502+46A>C (n.502+46A>C)
c.*192A>C (n.*192A>C)
c.323A>C (p.Asp108Ala)
n.750A>C
c.436A>C (p.Thr146Pro)
c.683A>C (p.Asp228Ala)
n.607A>C
n.538A>C
17g.81868944C>ACA401523663ARHGDIAc.547G>T (p.Asp183Tyr)
c.416-1G>T (n.416-1G>T)
c.502+45G>T (n.502+45G>T)
c.*191G>T (n.*191G>T)
c.322G>T (p.Asp108Tyr)
n.749G>T
c.436-1G>T (n.436-1G>T)
c.682G>T (p.Asp228Tyr)
n.606G>T
n.537G>T
17g.81868944C>GCA401523666ARHGDIAc.547G>C (p.Asp183His)
c.416-1G>C (n.416-1G>C)
c.502+45G>C (n.502+45G>C)
c.*191G>C (n.*191G>C)
c.322G>C (p.Asp108His)
n.749G>C
c.436-1G>C (n.436-1G>C)
c.682G>C (p.Asp228His)
n.606G>C
n.537G>C
17g.81868944C>TCA401523669ARHGDIAc.547G>A (p.Asp183Asn)
c.416-1G>A (n.416-1G>A)
c.502+45G>A (n.502+45G>A)
c.*191G>A (n.*191G>A)
c.322G>A (p.Asp108Asn)
n.749G>A
c.436-1G>A (n.436-1G>A)
c.682G>A (p.Asp228Asn)
n.606G>A
n.537G>A
17g.81868945T>ACA401523675ARHGDIAc.546A>T (p.Thr182=)
c.416-2A>T (n.416-2A>T)
c.502+44A>T (n.502+44A>T)
c.*190A>T (n.*190A>T)
c.321A>T (p.Thr107=)
n.748A>T
c.436-2A>T (n.436-2A>T)
c.681A>T (p.Thr227=)
n.605A>T
n.536A>T
17g.81868945T>CCA401523673ARHGDIAc.546A>G (p.Thr182=)
c.416-2A>G (n.416-2A>G)
c.502+44A>G (n.502+44A>G)
c.*190A>G (n.*190A>G)
c.321A>G (p.Thr107=)
n.748A>G
c.436-2A>G (n.436-2A>G)
c.681A>G (p.Thr227=)
n.605A>G
n.536A>G
 dbSNP
17g.81868945T>GCA401523672ARHGDIAc.546A>C (p.Thr182=)
c.416-2A>C (n.416-2A>C)
c.502+44A>C (n.502+44A>C)
c.*190A>C (n.*190A>C)
c.321A>C (p.Thr107=)
n.748A>C
c.436-2A>C (n.436-2A>C)
c.681A>C (p.Thr227=)
n.605A>C
n.536A>C
17g.81868945T=CA2278712698ARHGDIAc.546A= (p.Thr182=)
c.416-2A= (n.416-2A=)
c.502+44A= (n.502+44A=)
c.*190A= (n.*190A=)
c.321A= (p.Thr107=)
n.748A=
c.436-2A= (n.436-2A=)
c.681A= (p.Thr227=)
n.605A=
n.536A=
17g.81868946G>ACA401523677ARHGDIAc.545C>T (p.Thr182Ile)
c.416-3C>T (n.416-3C>T)
c.502+43C>T (n.502+43C>T)
c.*189C>T (n.*189C>T)
c.320C>T (p.Thr107Ile)
n.747C>T
c.436-3C>T (n.436-3C>T)
c.680C>T (p.Thr227Ile)
n.604C>T
n.535C>T
17g.81868946G>CCA401523679ARHGDIAc.545C>G (p.Thr182Arg)
c.416-3C>G (n.416-3C>G)
c.502+43C>G (n.502+43C>G)
c.*189C>G (n.*189C>G)
c.320C>G (p.Thr107Arg)
n.747C>G
c.436-3C>G (n.436-3C>G)
c.680C>G (p.Thr227Arg)
n.604C>G
n.535C>G
 COSMIC
17g.81868946G>TCA401523681ARHGDIAc.545C>A (p.Thr182Lys)
c.416-3C>A (n.416-3C>A)
c.502+43C>A (n.502+43C>A)
c.*189C>A (n.*189C>A)
c.320C>A (p.Thr107Lys)
n.747C>A
c.436-3C>A (n.436-3C>A)
c.680C>A (p.Thr227Lys)
n.604C>A
n.535C>A
17g.81868947T>ACA401523683ARHGDIAc.544A>T (p.Thr182Ser)
c.416-4A>T (n.416-4A>T)
c.502+42A>T (n.502+42A>T)
c.*188A>T (n.*188A>T)
c.319A>T (p.Thr107Ser)
n.746A>T
c.436-4A>T (n.436-4A>T)
c.679A>T (p.Thr227Ser)
n.603A>T
n.534A>T
17g.81868947T>CCA401523685ARHGDIAc.544A>G (p.Thr182Ala)
c.416-4A>G (n.416-4A>G)
c.502+42A>G (n.502+42A>G)
c.*188A>G (n.*188A>G)
c.319A>G (p.Thr107Ala)
n.746A>G
c.436-4A>G (n.436-4A>G)
c.679A>G (p.Thr227Ala)
n.603A>G
n.534A>G
17g.81868947T>GCA401523686ARHGDIAc.544A>C (p.Thr182Pro)
c.416-4A>C (n.416-4A>C)
c.502+42A>C (n.502+42A>C)
c.*188A>C (n.*188A>C)
c.319A>C (p.Thr107Pro)
n.746A>C
c.436-4A>C (n.436-4A>C)
c.679A>C (p.Thr227Pro)
n.603A>C
n.534A>C
17g.81868948G>ACA502425018ARHGDIAc.543C>T (p.Phe181=)
c.416-5C>T (n.416-5C>T)
c.502+41C>T (n.502+41C>T)
c.*187C>T (n.*187C>T)
c.318C>T (p.Phe106=)
n.745C>T
c.436-5C>T (n.436-5C>T)
c.678C>T (p.Phe226=)
n.602C>T
n.533C>T
17g.81868948G>CCA401523689ARHGDIAc.543C>G (p.Phe181Leu)
c.416-5C>G (n.416-5C>G)
c.502+41C>G (n.502+41C>G)
c.*187C>G (n.*187C>G)
c.318C>G (p.Phe106Leu)
n.745C>G
c.436-5C>G (n.436-5C>G)
c.678C>G (p.Phe226Leu)
n.602C>G
n.533C>G
17g.81868948G>TCA401523690ARHGDIAc.543C>A (p.Phe181Leu)
c.416-5C>A (n.416-5C>A)
c.502+41C>A (n.502+41C>A)
c.*187C>A (n.*187C>A)
c.318C>A (p.Phe106Leu)
n.745C>A
c.436-5C>A (n.436-5C>A)
c.678C>A (p.Phe226Leu)
n.602C>A
n.533C>A
17g.81868949A>CCA401523692ARHGDIAc.542T>G (p.Phe181Cys)
c.416-6T>G (n.416-6T>G)
c.502+40T>G (n.502+40T>G)
c.*186T>G (n.*186T>G)
c.317T>G (p.Phe106Cys)
n.744T>G
c.436-6T>G (n.436-6T>G)
c.677T>G (p.Phe226Cys)
n.601T>G
n.532T>G
17g.81868949A>GCA401523694ARHGDIAc.542T>C (p.Phe181Ser)
c.416-6T>C (n.416-6T>C)
c.502+40T>C (n.502+40T>C)
c.*186T>C (n.*186T>C)
c.317T>C (p.Phe106Ser)
n.744T>C
c.436-6T>C (n.436-6T>C)
c.677T>C (p.Phe226Ser)
n.601T>C
n.532T>C
17g.81868949A>TCA401523696ARHGDIAc.542T>A (p.Phe181Tyr)
c.416-6T>A (n.416-6T>A)
c.502+40T>A (n.502+40T>A)
c.*186T>A (n.*186T>A)
c.317T>A (p.Phe106Tyr)
n.744T>A
c.436-6T>A (n.436-6T>A)
c.677T>A (p.Phe226Tyr)
n.601T>A
n.532T>A
17g.81868950A>CCA401523701ARHGDIAc.541T>G (p.Phe181Val)
c.416-7T>G (n.416-7T>G)
c.502+39T>G (n.502+39T>G)
c.*185T>G (n.*185T>G)
c.316T>G (p.Phe106Val)
n.743T>G
c.436-7T>G (n.436-7T>G)
c.676T>G (p.Phe226Val)
n.600T>G
n.531T>G
17g.81868950A>GCA401523699ARHGDIAc.541T>C (p.Phe181Leu)
c.416-7T>C (n.416-7T>C)
c.502+39T>C (n.502+39T>C)
c.*185T>C (n.*185T>C)
c.316T>C (p.Phe106Leu)
n.743T>C
c.436-7T>C (n.436-7T>C)
c.676T>C (p.Phe226Leu)
n.600T>C
n.531T>C
17g.81868950A>TCA401523697ARHGDIAc.541T>A (p.Phe181Ile)
c.416-7T>A (n.416-7T>A)
c.502+39T>A (n.502+39T>A)
c.*185T>A (n.*185T>A)
c.316T>A (p.Phe106Ile)
n.743T>A
c.436-7T>A (n.436-7T>A)
c.676T>A (p.Phe226Ile)
n.600T>A
n.531T>A
17g.81868951G>ACA502425025ARHGDIAc.540C>T (p.Arg180=)
c.416-8C>T (n.416-8C>T)
c.502+38C>T (n.502+38C>T)
c.*184C>T (n.*184C>T)
c.315C>T (p.Arg105=)
n.742C>T
c.436-8C>T (n.436-8C>T)
c.675C>T (p.Arg225=)
n.599C>T
n.530C>T
 gnomAD v4
17g.81868951G>CCA502425028ARHGDIAc.540C>G (p.Arg180=)
c.416-8C>G (n.416-8C>G)
c.502+38C>G (n.502+38C>G)
c.*184C>G (n.*184C>G)
c.315C>G (p.Arg105=)
n.742C>G
c.436-8C>G (n.436-8C>G)
c.675C>G (p.Arg225=)
n.599C>G
n.530C>G
17g.81868951G>TCA502425031ARHGDIAc.540C>A (p.Arg180=)
c.416-8C>A (n.416-8C>A)
c.502+38C>A (n.502+38C>A)
c.*184C>A (n.*184C>A)
c.315C>A (p.Arg105=)
n.742C>A
c.436-8C>A (n.436-8C>A)
c.675C>A (p.Arg225=)
n.599C>A
n.530C>A
17g.81868952C>ACA401523703ARHGDIAc.539G>T (p.Arg180Leu)
c.416-9G>T (n.416-9G>T)
c.502+37G>T (n.502+37G>T)
c.*183G>T (n.*183G>T)
c.314G>T (p.Arg105Leu)
n.741G>T
c.436-9G>T (n.436-9G>T)
c.674G>T (p.Arg225Leu)
n.598G>T
n.529G>T
 dbSNP gnomAD v4
17g.81868952C=CA2278712699ARHGDIAc.539G= (p.Arg180=)
c.416-9G= (n.416-9G=)
c.502+37G= (n.502+37G=)
c.*183G= (n.*183G=)
c.314G= (p.Arg105=)
n.741G=
c.436-9G= (n.436-9G=)
c.674G= (p.Arg225=)
n.598G=
n.529G=
17g.81868952C>GCA401523705ARHGDIAc.539G>C (p.Arg180Pro)
c.416-9G>C (n.416-9G>C)
c.502+37G>C (n.502+37G>C)
c.*183G>C (n.*183G>C)
c.314G>C (p.Arg105Pro)
n.741G>C
c.436-9G>C (n.436-9G>C)
c.674G>C (p.Arg225Pro)
n.598G>C
n.529G>C
17g.81868952C>TCA8843207ARHGDIAc.539G>A (p.Arg180His)
c.416-9G>A (n.416-9G>A)
c.502+37G>A (n.502+37G>A)
c.*183G>A (n.*183G>A)
c.314G>A (p.Arg105His)
n.741G>A
c.436-9G>A (n.436-9G>A)
c.674G>A (p.Arg225His)
n.598G>A
n.529G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.81868953G>ACA401523708ARHGDIAc.538C>T (p.Arg180Cys)
c.416-10C>T (n.416-10C>T)
c.502+36C>T (n.502+36C>T)
c.*182C>T (n.*182C>T)
c.313C>T (p.Arg105Cys)
n.740C>T
c.436-10C>T (n.436-10C>T)
c.673C>T (p.Arg225Cys)
n.597C>T
n.528C>T
 dbSNP gnomAD v2 gnomAD v4
17g.81868953G>CCA401523710ARHGDIAc.538C>G (p.Arg180Gly)
c.416-10C>G (n.416-10C>G)
c.502+36C>G (n.502+36C>G)
c.*182C>G (n.*182C>G)
c.313C>G (p.Arg105Gly)
n.740C>G
c.436-10C>G (n.436-10C>G)
c.673C>G (p.Arg225Gly)
n.597C>G
n.528C>G
17g.81868953G=CA2278712700ARHGDIAc.538C= (p.Arg180=)
c.416-10C= (n.416-10C=)
c.502+36C= (n.502+36C=)
c.*182C= (n.*182C=)
c.313C= (p.Arg105=)
n.740C=
c.436-10C= (n.436-10C=)
c.673C= (p.Arg225=)
n.597C=
n.528C=
17g.81868953G>TCA401523712ARHGDIAc.538C>A (p.Arg180Ser)
c.416-10C>A (n.416-10C>A)
c.502+36C>A (n.502+36C>A)
c.*182C>A (n.*182C>A)
c.313C>A (p.Arg105Ser)
n.740C>A
c.436-10C>A (n.436-10C>A)
c.673C>A (p.Arg225Ser)
n.597C>A
n.528C>A

Number of alleles fetched