Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.75749459T>ACA340816588ACADMc.749T>A (p.Ile250Asn)
c.761T>A (p.Ile254Asn)
c.641T>A (p.Ile214Asn)
c.848T>A (p.Ile283Asn)
c.182T>A (p.Ile61Asn)
c.*335T>A (p.=)
c.*533T>A (p.=)
c.*517T>A (p.=)
n.522T>A
n.658T>A
c.*246T>A (p.=)
n.479T>A
c.*513T>A (p.=)
c.*333T>A (p.=)
COSMIC
1g.75749459T>CCA340816589ACADMc.749T>C (p.Ile250Thr)
c.761T>C (p.Ile254Thr)
c.641T>C (p.Ile214Thr)
c.848T>C (p.Ile283Thr)
c.182T>C (p.Ile61Thr)
c.*335T>C (p.=)
c.*533T>C (p.=)
c.*517T>C (p.=)
n.522T>C
n.658T>C
c.*246T>C (p.=)
n.479T>C
c.*513T>C (p.=)
c.*333T>C (p.=)
1g.75749459T>GCA340816590ACADMc.749T>G (p.Ile250Ser)
c.761T>G (p.Ile254Ser)
c.641T>G (p.Ile214Ser)
c.848T>G (p.Ile283Ser)
c.182T>G (p.Ile61Ser)
c.*335T>G (p.=)
c.*533T>G (p.=)
c.*517T>G (p.=)
n.522T>G
n.658T>G
c.*246T>G (p.=)
n.479T>G
c.*513T>G (p.=)
c.*333T>G (p.=)
1g.75749460T>ACA418544819ACADMc.750T>A (p.Ile250=)
c.762T>A (p.Ile254=)
c.642T>A (p.Ile214=)
c.849T>A (p.Ile283=)
c.183T>A (p.Ile61=)
c.*336T>A (p.=)
c.*534T>A (p.=)
c.*518T>A (p.=)
n.523T>A
n.659T>A
c.*247T>A (p.=)
n.480T>A
c.*514T>A (p.=)
c.*334T>A (p.=)
1g.75749460T>CCA418544820ACADMc.750T>C (p.Ile250=)
c.762T>C (p.Ile254=)
c.642T>C (p.Ile214=)
c.849T>C (p.Ile283=)
c.183T>C (p.Ile61=)
c.*336T>C (p.=)
c.*534T>C (p.=)
c.*518T>C (p.=)
n.523T>C
n.659T>C
c.*247T>C (p.=)
n.480T>C
c.*514T>C (p.=)
c.*334T>C (p.=)
1g.75749460T>GCA340816591ACADMc.750T>G (p.Ile250Met)
c.762T>G (p.Ile254Met)
c.642T>G (p.Ile214Met)
c.849T>G (p.Ile283Met)
c.183T>G (p.Ile61Met)
c.*336T>G (p.=)
c.*534T>G (p.=)
c.*518T>G (p.=)
n.523T>G
n.659T>G
c.*247T>G (p.=)
n.480T>G
c.*514T>G (p.=)
c.*334T>G (p.=)
1g.75749461G>ACA24631581ACADMc.751G>A (p.Val251Ile)
c.763G>A (p.Val255Ile)
c.643G>A (p.Val215Ile)
c.850G>A (p.Val284Ile)
c.184G>A (p.Val62Ile)
c.*337G>A (p.=)
c.*535G>A (p.=)
c.*519G>A (p.=)
n.524G>A
n.660G>A
c.*248G>A (p.=)
n.481G>A
c.*515G>A (p.=)
c.*335G>A (p.=)
dbSNP
1g.75749461G>CCA340816592ACADMc.751G>C (p.Val251Leu)
c.763G>C (p.Val255Leu)
c.643G>C (p.Val215Leu)
c.850G>C (p.Val284Leu)
c.184G>C (p.Val62Leu)
c.*337G>C (p.=)
c.*535G>C (p.=)
c.*519G>C (p.=)
n.524G>C
n.660G>C
c.*248G>C (p.=)
n.481G>C
c.*515G>C (p.=)
c.*335G>C (p.=)
1g.75749461G>TCA24631588ACADMc.751G>T (p.Val251Phe)
c.763G>T (p.Val255Phe)
c.643G>T (p.Val215Phe)
c.850G>T (p.Val284Phe)
c.184G>T (p.Val62Phe)
c.*337G>T (p.=)
c.*535G>T (p.=)
c.*519G>T (p.=)
n.524G>T
n.660G>T
c.*248G>T (p.=)
n.481G>T
c.*515G>T (p.=)
c.*335G>T (p.=)
dbSNP gnomAD
1g.75749462T>ACA340816593ACADMc.752T>A (p.Val251Asp)
c.764T>A (p.Val255Asp)
c.644T>A (p.Val215Asp)
c.851T>A (p.Val284Asp)
c.185T>A (p.Val62Asp)
c.*338T>A (p.=)
c.*536T>A (p.=)
c.*520T>A (p.=)
n.525T>A
n.661T>A
c.*249T>A (p.=)
n.482T>A
c.*516T>A (p.=)
c.*336T>A (p.=)
1g.75749462T>CCA24631590ACADMc.752T>C (p.Val251Ala)
c.764T>C (p.Val255Ala)
c.644T>C (p.Val215Ala)
c.851T>C (p.Val284Ala)
c.185T>C (p.Val62Ala)
c.*338T>C (p.=)
c.*536T>C (p.=)
c.*520T>C (p.=)
n.525T>C
n.661T>C
c.*249T>C (p.=)
n.482T>C
c.*516T>C (p.=)
c.*336T>C (p.=)
dbSNP gnomAD
1g.75749462T>GCA340816594ACADMc.752T>G (p.Val251Gly)
c.764T>G (p.Val255Gly)
c.644T>G (p.Val215Gly)
c.851T>G (p.Val284Gly)
c.185T>G (p.Val62Gly)
c.*338T>G (p.=)
c.*536T>G (p.=)
c.*520T>G (p.=)
n.525T>G
n.661T>G
c.*249T>G (p.=)
n.482T>G
c.*516T>G (p.=)
c.*336T>G (p.=)
1g.75749463C>ACA418544826ACADMc.753C>A (p.Val251=)
c.765C>A (p.Val255=)
c.645C>A (p.Val215=)
c.852C>A (p.Val284=)
c.186C>A (p.Val62=)
c.*339C>A (p.=)
c.*537C>A (p.=)
c.*521C>A (p.=)
n.526C>A
n.662C>A
c.*250C>A (p.=)
n.483C>A
c.*517C>A (p.=)
c.*337C>A (p.=)
1g.75749463C>GCA418544825ACADMc.753C>G (p.Val251=)
c.765C>G (p.Val255=)
c.645C>G (p.Val215=)
c.852C>G (p.Val284=)
c.186C>G (p.Val62=)
c.*339C>G (p.=)
c.*537C>G (p.=)
c.*521C>G (p.=)
n.526C>G
n.662C>G
c.*250C>G (p.=)
n.483C>G
c.*517C>G (p.=)
c.*337C>G (p.=)
1g.75749463C>TCA418544824ACADMc.753C>T (p.Val251=)
c.765C>T (p.Val255=)
c.645C>T (p.Val215=)
c.852C>T (p.Val284=)
c.186C>T (p.Val62=)
c.*339C>T (p.=)
c.*537C>T (p.=)
c.*521C>T (p.=)
n.526C>T
n.662C>T
c.*250C>T (p.=)
n.483C>T
c.*517C>T (p.=)
c.*337C>T (p.=)
1g.75749464T>ACA340816595ACADMc.754T>A (p.Phe252Ile)
c.766T>A (p.Phe256Ile)
c.646T>A (p.Phe216Ile)
c.853T>A (p.Phe285Ile)
c.187T>A (p.Phe63Ile)
c.*340T>A (p.=)
c.*538T>A (p.=)
c.*522T>A (p.=)
n.527T>A
n.663T>A
c.*251T>A (p.=)
n.484T>A
c.*518T>A (p.=)
c.*338T>A (p.=)
1g.75749464T>CCA340816597ACADMc.754T>C (p.Phe252Leu)
c.766T>C (p.Phe256Leu)
c.646T>C (p.Phe216Leu)
c.853T>C (p.Phe285Leu)
c.187T>C (p.Phe63Leu)
c.*340T>C (p.=)
c.*538T>C (p.=)
c.*522T>C (p.=)
n.527T>C
n.663T>C
c.*251T>C (p.=)
n.484T>C
c.*518T>C (p.=)
c.*338T>C (p.=)
1g.75749464T>GCA340816596ACADMc.754T>G (p.Phe252Val)
c.766T>G (p.Phe256Val)
c.646T>G (p.Phe216Val)
c.853T>G (p.Phe285Val)
c.187T>G (p.Phe63Val)
c.*340T>G (p.=)
c.*538T>G (p.=)
c.*522T>G (p.=)
n.527T>G
n.663T>G
c.*251T>G (p.=)
n.484T>G
c.*518T>G (p.=)
c.*338T>G (p.=)
1g.75749465T>ACA340816598ACADMc.755T>A (p.Phe252Tyr)
c.767T>A (p.Phe256Tyr)
c.647T>A (p.Phe216Tyr)
c.854T>A (p.Phe285Tyr)
c.188T>A (p.Phe63Tyr)
c.*341T>A (p.=)
c.*539T>A (p.=)
c.*523T>A (p.=)
n.528T>A
n.664T>A
c.*252T>A (p.=)
n.485T>A
c.*519T>A (p.=)
c.*339T>A (p.=)
1g.75749465T>CCA340816599ACADMc.755T>C (p.Phe252Ser)
c.767T>C (p.Phe256Ser)
c.647T>C (p.Phe216Ser)
c.854T>C (p.Phe285Ser)
c.188T>C (p.Phe63Ser)
c.*341T>C (p.=)
c.*539T>C (p.=)
c.*523T>C (p.=)
n.528T>C
n.664T>C
c.*252T>C (p.=)
n.485T>C
c.*519T>C (p.=)
c.*339T>C (p.=)
1g.75749465T>GCA913198ACADMc.755T>G (p.Phe252Cys)
c.767T>G (p.Phe256Cys)
c.647T>G (p.Phe216Cys)
c.854T>G (p.Phe285Cys)
c.188T>G (p.Phe63Cys)
c.*341T>G (p.=)
c.*539T>G (p.=)
c.*523T>G (p.=)
n.528T>G
n.664T>G
c.*252T>G (p.=)
n.485T>G
c.*519T>G (p.=)
c.*339T>G (p.=)
ClinVar dbSNP ExAC gnomAD
1g.75749466C>ACA340816600ACADMc.756C>A (p.Phe252Leu)
c.768C>A (p.Phe256Leu)
c.648C>A (p.Phe216Leu)
c.855C>A (p.Phe285Leu)
c.189C>A (p.Phe63Leu)
c.*342C>A (p.=)
c.*540C>A (p.=)
c.*524C>A (p.=)
n.529C>A
n.665C>A
c.*253C>A (p.=)
n.486C>A
c.*520C>A (p.=)
c.*340C>A (p.=)
1g.75749466C>GCA340816601ACADMc.756C>G (p.Phe252Leu)
c.768C>G (p.Phe256Leu)
c.648C>G (p.Phe216Leu)
c.855C>G (p.Phe285Leu)
c.189C>G (p.Phe63Leu)
c.*342C>G (p.=)
c.*540C>G (p.=)
c.*524C>G (p.=)
n.529C>G
n.665C>G
c.*253C>G (p.=)
n.486C>G
c.*520C>G (p.=)
c.*340C>G (p.=)
1g.75749466C>TCA913199ACADMc.756C>T (p.Phe252=)
c.768C>T (p.Phe256=)
c.648C>T (p.Phe216=)
c.855C>T (p.Phe285=)
c.189C>T (p.Phe63=)
c.*342C>T (p.=)
c.*540C>T (p.=)
c.*524C>T (p.=)
n.529C>T
n.665C>T
c.*253C>T (p.=)
n.486C>T
c.*520C>T (p.=)
c.*340C>T (p.=)
dbSNP ExAC gnomAD COSMIC
1g.75749467G>ACA913200ACADMc.757G>A (p.Glu253Lys)
c.769G>A (p.Glu257Lys)
c.649G>A (p.Glu217Lys)
c.856G>A (p.Glu286Lys)
c.190G>A (p.Glu64Lys)
c.*343G>A (p.=)
c.*541G>A (p.=)
c.*525G>A (p.=)
n.530G>A
n.666G>A
c.*254G>A (p.=)
n.487G>A
c.*521G>A (p.=)
c.*341G>A (p.=)
ClinVar dbSNP ExAC gnomAD COSMIC COSMIC
1g.75749467G>CCA340816602ACADMc.757G>C (p.Glu253Gln)
c.769G>C (p.Glu257Gln)
c.649G>C (p.Glu217Gln)
c.856G>C (p.Glu286Gln)
c.190G>C (p.Glu64Gln)
c.*343G>C (p.=)
c.*541G>C (p.=)
c.*525G>C (p.=)
n.530G>C
n.666G>C
c.*254G>C (p.=)
n.487G>C
c.*521G>C (p.=)
c.*341G>C (p.=)
1g.75749467G>TCA340816603ACADMc.757G>T (p.Glu253Ter)
c.769G>T (p.Glu257Ter)
c.649G>T (p.Glu217Ter)
c.856G>T (p.Glu286Ter)
c.190G>T (p.Glu64Ter)
c.*343G>T (p.=)
c.*541G>T (p.=)
c.*525G>T (p.=)
n.530G>T
n.666G>T
c.*254G>T (p.=)
n.487G>T
c.*521G>T (p.=)
c.*341G>T (p.=)
1g.75749468A>CCA340816604ACADMc.758A>C (p.Glu253Ala)
c.770A>C (p.Glu257Ala)
c.650A>C (p.Glu217Ala)
c.857A>C (p.Glu286Ala)
c.191A>C (p.Glu64Ala)
c.*344A>C (p.=)
c.*542A>C (p.=)
c.*526A>C (p.=)
n.531A>C
n.667A>C
c.*255A>C (p.=)
n.488A>C
c.*522A>C (p.=)
c.*342A>C (p.=)
1g.75749468A>GCA340816605ACADMc.758A>G (p.Glu253Gly)
c.770A>G (p.Glu257Gly)
c.650A>G (p.Glu217Gly)
c.857A>G (p.Glu286Gly)
c.191A>G (p.Glu64Gly)
c.*344A>G (p.=)
c.*542A>G (p.=)
c.*526A>G (p.=)
n.531A>G
n.667A>G
c.*255A>G (p.=)
n.488A>G
c.*522A>G (p.=)
c.*342A>G (p.=)
1g.75749468A>TCA340816606ACADMc.758A>T (p.Glu253Val)
c.770A>T (p.Glu257Val)
c.650A>T (p.Glu217Val)
c.857A>T (p.Glu286Val)
c.191A>T (p.Glu64Val)
c.*344A>T (p.=)
c.*542A>T (p.=)
c.*526A>T (p.=)
n.531A>T
n.667A>T
c.*255A>T (p.=)
n.488A>T
c.*522A>T (p.=)
c.*342A>T (p.=)
1g.75749469A>CCA340816608ACADMc.759A>C (p.Glu253Asp)
c.771A>C (p.Glu257Asp)
c.651A>C (p.Glu217Asp)
c.858A>C (p.Glu286Asp)
c.192A>C (p.Glu64Asp)
c.*345A>C (p.=)
c.*543A>C (p.=)
c.*527A>C (p.=)
n.532A>C
n.668A>C
c.*256A>C (p.=)
n.489A>C
c.*523A>C (p.=)
c.*343A>C (p.=)
1g.75749469A>GCA418544833ACADMc.759A>G (p.Glu253=)
c.771A>G (p.Glu257=)
c.651A>G (p.Glu217=)
c.858A>G (p.Glu286=)
c.192A>G (p.Glu64=)
c.*345A>G (p.=)
c.*543A>G (p.=)
c.*527A>G (p.=)
n.532A>G
n.668A>G
c.*256A>G (p.=)
n.489A>G
c.*523A>G (p.=)
c.*343A>G (p.=)
1g.75749469A>TCA340816607ACADMc.759A>T (p.Glu253Asp)
c.771A>T (p.Glu257Asp)
c.651A>T (p.Glu217Asp)
c.858A>T (p.Glu286Asp)
c.192A>T (p.Glu64Asp)
c.*345A>T (p.=)
c.*543A>T (p.=)
c.*527A>T (p.=)
n.532A>T
n.668A>T
c.*256A>T (p.=)
n.489A>T
c.*523A>T (p.=)
c.*343A>T (p.=)
1g.75749470G>ACA340816609ACADMc.760G>A (p.Asp254Asn)
c.772G>A (p.Asp258Asn)
c.652G>A (p.Asp218Asn)
c.859G>A (p.Asp287Asn)
c.193G>A (p.Asp65Asn)
c.*346G>A (p.=)
c.*544G>A (p.=)
c.*528G>A (p.=)
n.533G>A
n.669G>A
c.*257G>A (p.=)
n.490G>A
c.*524G>A (p.=)
c.*344G>A (p.=)
1g.75749470G>CCA340816610ACADMc.760G>C (p.Asp254His)
c.772G>C (p.Asp258His)
c.652G>C (p.Asp218His)
c.859G>C (p.Asp287His)
c.193G>C (p.Asp65His)
c.*346G>C (p.=)
c.*544G>C (p.=)
c.*528G>C (p.=)
n.533G>C
n.669G>C
c.*257G>C (p.=)
n.490G>C
c.*524G>C (p.=)
c.*344G>C (p.=)
1g.75749470G>TCA340816611ACADMc.760G>T (p.Asp254Tyr)
c.772G>T (p.Asp258Tyr)
c.652G>T (p.Asp218Tyr)
c.859G>T (p.Asp287Tyr)
c.193G>T (p.Asp65Tyr)
c.*346G>T (p.=)
c.*544G>T (p.=)
c.*528G>T (p.=)
n.533G>T
n.669G>T
c.*257G>T (p.=)
n.490G>T
c.*524G>T (p.=)
c.*344G>T (p.=)
gnomAD COSMIC COSMIC
1g.75749471A>CCA340816612ACADMc.761A>C (p.Asp254Ala)
c.773A>C (p.Asp258Ala)
c.653A>C (p.Asp218Ala)
c.860A>C (p.Asp287Ala)
c.194A>C (p.Asp65Ala)
c.*347A>C (p.=)
c.*545A>C (p.=)
c.*529A>C (p.=)
n.534A>C
n.670A>C
c.*258A>C (p.=)
n.491A>C
c.*525A>C (p.=)
c.*345A>C (p.=)
1g.75749471A>GCA340816613ACADMc.761A>G (p.Asp254Gly)
c.773A>G (p.Asp258Gly)
c.653A>G (p.Asp218Gly)
c.860A>G (p.Asp287Gly)
c.194A>G (p.Asp65Gly)
c.*347A>G (p.=)
c.*545A>G (p.=)
c.*529A>G (p.=)
n.534A>G
n.670A>G
c.*258A>G (p.=)
n.491A>G
c.*525A>G (p.=)
c.*345A>G (p.=)
1g.75749471A>TCA340816614ACADMc.761A>T (p.Asp254Val)
c.773A>T (p.Asp258Val)
c.653A>T (p.Asp218Val)
c.860A>T (p.Asp287Val)
c.194A>T (p.Asp65Val)
c.*347A>T (p.=)
c.*545A>T (p.=)
c.*529A>T (p.=)
n.534A>T
n.670A>T
c.*258A>T (p.=)
n.491A>T
c.*525A>T (p.=)
c.*345A>T (p.=)
1g.75749472T>ACA340816615ACADMc.762T>A (p.Asp254Glu)
c.774T>A (p.Asp258Glu)
c.654T>A (p.Asp218Glu)
c.861T>A (p.Asp287Glu)
c.195T>A (p.Asp65Glu)
c.*348T>A (p.=)
c.*546T>A (p.=)
c.*530T>A (p.=)
n.535T>A
n.671T>A
c.*259T>A (p.=)
n.492T>A
c.*526T>A (p.=)
c.*346T>A (p.=)
1g.75749472T>CCA418544835ACADMc.762T>C (p.Asp254=)
c.774T>C (p.Asp258=)
c.654T>C (p.Asp218=)
c.861T>C (p.Asp287=)
c.195T>C (p.Asp65=)
c.*348T>C (p.=)
c.*546T>C (p.=)
c.*530T>C (p.=)
n.535T>C
n.671T>C
c.*259T>C (p.=)
n.492T>C
c.*526T>C (p.=)
c.*346T>C (p.=)
1g.75749472T>GCA340816616ACADMc.762T>G (p.Asp254Glu)
c.774T>G (p.Asp258Glu)
c.654T>G (p.Asp218Glu)
c.861T>G (p.Asp287Glu)
c.195T>G (p.Asp65Glu)
c.*348T>G (p.=)
c.*546T>G (p.=)
c.*530T>G (p.=)
n.535T>G
n.671T>G
c.*259T>G (p.=)
n.492T>G
c.*526T>G (p.=)
c.*346T>G (p.=)
1g.75749473G>ACA340816617ACADMc.763G>A (p.Val255Met)
c.775G>A (p.Val259Met)
c.655G>A (p.Val219Met)
c.862G>A (p.Val288Met)
c.196G>A (p.Val66Met)
c.*349G>A (p.=)
c.*547G>A (p.=)
c.*531G>A (p.=)
n.536G>A
n.672G>A
c.*260G>A (p.=)
n.493G>A
c.*527G>A (p.=)
c.*347G>A (p.=)
1g.75749473G>CCA340816618ACADMc.763G>C (p.Val255Leu)
c.775G>C (p.Val259Leu)
c.655G>C (p.Val219Leu)
c.862G>C (p.Val288Leu)
c.196G>C (p.Val66Leu)
c.*349G>C (p.=)
c.*547G>C (p.=)
c.*531G>C (p.=)
n.536G>C
n.672G>C
c.*260G>C (p.=)
n.493G>C
c.*527G>C (p.=)
c.*347G>C (p.=)
1g.75749473G>TCA340816619ACADMc.763G>T (p.Val255Leu)
c.775G>T (p.Val259Leu)
c.655G>T (p.Val219Leu)
c.862G>T (p.Val288Leu)
c.196G>T (p.Val66Leu)
c.*349G>T (p.=)
c.*547G>T (p.=)
c.*531G>T (p.=)
n.536G>T
n.672G>T
c.*260G>T (p.=)
n.493G>T
c.*527G>T (p.=)
c.*347G>T (p.=)
1g.75749474T>ACA340816622ACADMc.764T>A (p.Val255Glu)
c.776T>A (p.Val259Glu)
c.656T>A (p.Val219Glu)
c.863T>A (p.Val288Glu)
c.197T>A (p.Val66Glu)
c.*350T>A (p.=)
c.*548T>A (p.=)
c.*532T>A (p.=)
n.537T>A
n.673T>A
c.*261T>A (p.=)
n.494T>A
c.*528T>A (p.=)
c.*348T>A (p.=)
1g.75749474T>CCA340816621ACADMc.764T>C (p.Val255Ala)
c.776T>C (p.Val259Ala)
c.656T>C (p.Val219Ala)
c.863T>C (p.Val288Ala)
c.197T>C (p.Val66Ala)
c.*350T>C (p.=)
c.*548T>C (p.=)
c.*532T>C (p.=)
n.537T>C
n.673T>C
c.*261T>C (p.=)
n.494T>C
c.*528T>C (p.=)
c.*348T>C (p.=)
1g.75749474T>GCA340816620ACADMc.764T>G (p.Val255Gly)
c.776T>G (p.Val259Gly)
c.656T>G (p.Val219Gly)
c.863T>G (p.Val288Gly)
c.197T>G (p.Val66Gly)
c.*350T>G (p.=)
c.*548T>G (p.=)
c.*532T>G (p.=)
n.537T>G
n.673T>G
c.*261T>G (p.=)
n.494T>G
c.*528T>G (p.=)
c.*348T>G (p.=)
1g.75749475G>ACA418544838ACADMc.765G>A (p.Val255=)
c.777G>A (p.Val259=)
c.657G>A (p.Val219=)
c.864G>A (p.Val288=)
c.198G>A (p.Val66=)
c.*351G>A (p.=)
c.*549G>A (p.=)
c.*533G>A (p.=)
n.538G>A
n.674G>A
c.*262G>A (p.=)
n.495G>A
c.*529G>A (p.=)
c.*349G>A (p.=)
COSMIC
1g.75749475G>CCA418544839ACADMc.765G>C (p.Val255=)
c.777G>C (p.Val259=)
c.657G>C (p.Val219=)
c.864G>C (p.Val288=)
c.198G>C (p.Val66=)
c.*351G>C (p.=)
c.*549G>C (p.=)
c.*533G>C (p.=)
n.538G>C
n.674G>C
c.*262G>C (p.=)
n.495G>C
c.*529G>C (p.=)
c.*349G>C (p.=)

Number of alleles fetched