Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.97611451T>CCA2610415256HOGA1c.835-59T>C (n.835-59T>C)
c.346-59T>C (n.346-59T>C)
c.345+9461T>C (n.345+9461T>C)
gnomAD v4
10g.97611453C>ACA2610415260HOGA1c.835-57C>A (n.835-57C>A)
c.346-57C>A (n.346-57C>A)
c.345+9463C>A (n.345+9463C>A)
gnomAD v4
10g.97611453C>TCA2574692846HOGA1c.835-57C>T (n.835-57C>T)
c.346-57C>T (n.346-57C>T)
c.345+9463C>T (n.345+9463C>T)
gnomAD v4
10g.97611454delCA2610415258HOGA1c.835-56del (n.835-56del)
c.346-56del (n.346-56del)
c.345+9464del (n.345+9464del)
gnomAD v4
10g.97611454C>TCA2610415262HOGA1c.835-56C>T (n.835-56C>T)
c.346-56C>T (n.346-56C>T)
c.345+9464C>T (n.345+9464C>T)
gnomAD v4
10g.97611455A>CCA2610415264HOGA1c.835-55A>C (n.835-55A>C)
c.346-55A>C (n.346-55A>C)
c.345+9465A>C (n.345+9465A>C)
gnomAD v4
10g.97611455A>GCA2610415266HOGA1c.835-55A>G (n.835-55A>G)
c.346-55A>G (n.346-55A>G)
c.345+9465A>G (n.345+9465A>G)
gnomAD v4
10g.97611457delCA2610415268HOGA1c.835-53del (n.835-53del)
c.346-53del (n.346-53del)
c.345+9467del (n.345+9467del)
gnomAD v4
10g.97611459A=CA1930506935HOGA1c.835-51A= (n.835-51A=)
c.346-51A= (n.346-51A=)
c.345+9469A= (n.345+9469A=)
10g.97611459A>GCA212683116HOGA1c.835-51A>G (n.835-51A>G)
c.346-51A>G (n.346-51A>G)
c.345+9469A>G (n.345+9469A>G)
dbSNP gnomAD v4
10g.97611459A>TCA2574692847HOGA1c.835-51A>T (n.835-51A>T)
c.346-51A>T (n.346-51A>T)
c.345+9469A>T (n.345+9469A>T)
10g.97611460T>CCA595409815HOGA1c.835-50T>C (n.835-50T>C)
c.346-50T>C (n.346-50T>C)
c.345+9470T>C (n.345+9470T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.97611460T=CA1930506936HOGA1c.835-50T= (n.835-50T=)
c.346-50T= (n.346-50T=)
c.345+9470T= (n.345+9470T=)
10g.97611461G>CCA2610415276HOGA1c.835-49G>C (n.835-49G>C)
c.346-49G>C (n.346-49G>C)
c.345+9471G>C (n.345+9471G>C)
gnomAD v4
10g.97611461G=CA1930506938HOGA1c.835-49G= (n.835-49G=)
c.346-49G= (n.346-49G=)
c.345+9471G= (n.345+9471G=)
10g.97611461G>TCA595409816HOGA1c.835-49G>T (n.835-49G>T)
c.346-49G>T (n.346-49G>T)
c.345+9471G>T (n.345+9471G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.97611462G>ACA5634286HOGA1c.835-48G>A (n.835-48G>A)
c.346-48G>A (n.346-48G>A)
c.345+9472G>A (n.345+9472G>A)
dbSNP ExAC gnomAD v2
10g.97611462G=CA1930506939HOGA1c.835-48G= (n.835-48G=)
c.346-48G= (n.346-48G=)
c.345+9472G= (n.345+9472G=)
10g.97611465G>ACA595409817HOGA1c.835-45G>A (n.835-45G>A)
c.346-45G>A (n.346-45G>A)
c.345+9475G>A (n.345+9475G>A)
dbSNP gnomAD v2 gnomAD v4
10g.97611465G=CA1930506941HOGA1c.835-45G= (n.835-45G=)
c.346-45G= (n.346-45G=)
c.345+9475G= (n.345+9475G=)
10g.97611466T>GCA2610415281HOGA1c.835-44T>G (n.835-44T>G)
c.346-44T>G (n.346-44T>G)
c.345+9476T>G (n.345+9476T>G)
gnomAD v4
10g.97611467T>GCA670425698HOGA1c.835-43T>G (n.835-43T>G)
c.346-43T>G (n.346-43T>G)
c.345+9477T>G (n.345+9477T>G)
dbSNP gnomAD v3 gnomAD v4
10g.97611467T=CA1930506942HOGA1c.835-43T= (n.835-43T=)
c.346-43T= (n.346-43T=)
c.345+9477T= (n.345+9477T=)
10g.97611468C=CA1930506944HOGA1c.835-42C= (n.835-42C=)
c.346-42C= (n.346-42C=)
c.345+9478C= (n.345+9478C=)
10g.97611468C>TCA5634287HOGA1c.835-42C>T (n.835-42C>T)
c.346-42C>T (n.346-42C>T)
c.345+9478C>T (n.345+9478C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611470G>ACA595409818HOGA1c.835-40G>A (n.835-40G>A)
c.346-40G>A (n.346-40G>A)
c.345+9480G>A (n.345+9480G>A)
dbSNP gnomAD v2 gnomAD v4
10g.97611470G=CA1930506945HOGA1c.835-40G= (n.835-40G=)
c.346-40G= (n.346-40G=)
c.345+9480G= (n.345+9480G=)
10g.97611473A=CA1930506947HOGA1c.835-37A= (n.835-37A=)
c.346-37A= (n.346-37A=)
c.345+9483A= (n.345+9483A=)
10g.97611473A>GCA212683149HOGA1c.835-37A>G (n.835-37A>G)
c.346-37A>G (n.346-37A>G)
c.345+9483A>G (n.345+9483A>G)
dbSNP gnomAD v4
10g.97611476T>CCA212683150HOGA1c.835-34T>C (n.835-34T>C)
c.346-34T>C (n.346-34T>C)
c.345+9486T>C (n.345+9486T>C)
dbSNP gnomAD v3 gnomAD v4
10g.97611476T=CA1930506948HOGA1c.835-34T= (n.835-34T=)
c.346-34T= (n.346-34T=)
c.345+9486T= (n.345+9486T=)
10g.97611478C>ACA212683159HOGA1c.835-32C>A (n.835-32C>A)
c.346-32C>A (n.346-32C>A)
c.345+9488C>A (n.345+9488C>A)
dbSNP
10g.97611478C=CA1930506949HOGA1c.835-32C= (n.835-32C=)
c.346-32C= (n.346-32C=)
c.345+9488C= (n.345+9488C=)
10g.97611479_97611481delinsTCACA1930506950HOGA1c.835-31_835-29delinsTCA (n.835-31_835-29delinsTCA)
c.346-31_346-29delinsTCA (n.346-31_346-29delinsTCA)
c.345+9489_345+9491delinsTCA (n.345+9489_345+9491delinsTCA)
10g.97611480_97611481delCA595409819HOGA1c.835-30_835-29del (n.835-30_835-29del)
c.346-30_346-29del (n.346-30_346-29del)
c.345+9490_345+9491del (n.345+9490_345+9491del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.97611481A>CCA2610415295HOGA1c.835-29A>C (n.835-29A>C)
c.346-29A>C (n.346-29A>C)
c.345+9491A>C (n.345+9491A>C)
gnomAD v4
10g.97611481A>GCA2610415293HOGA1c.835-29A>G (n.835-29A>G)
c.346-29A>G (n.346-29A>G)
c.345+9491A>G (n.345+9491A>G)
gnomAD v4
10g.97611482G>ACA595409820HOGA1c.835-28G>A (n.835-28G>A)
c.346-28G>A (n.346-28G>A)
c.345+9492G>A (n.345+9492G>A)
dbSNP gnomAD v2 gnomAD v4
10g.97611482G=CA1930506952HOGA1c.835-28G= (n.835-28G=)
c.346-28G= (n.346-28G=)
c.345+9492G= (n.345+9492G=)
10g.97611483T>CCA2610415302HOGA1c.835-27T>C (n.835-27T>C)
c.346-27T>C (n.346-27T>C)
c.345+9493T>C (n.345+9493T>C)
gnomAD v4
10g.97611484C=CA1930506953HOGA1c.835-26C= (n.835-26C=)
c.346-26C= (n.346-26C=)
c.345+9494C= (n.345+9494C=)
10g.97611484C>TCA5634288HOGA1c.835-26C>T (n.835-26C>T)
c.346-26C>T (n.346-26C>T)
c.345+9494C>T (n.345+9494C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611486C=CA1930506954HOGA1c.835-24C= (n.835-24C=)
c.346-24C= (n.346-24C=)
c.345+9496C= (n.345+9496C=)
10g.97611486C>TCA1930506955HOGA1c.835-24C>T (n.835-24C>T)
c.346-24C>T (n.346-24C>T)
c.345+9496C>T (n.345+9496C>T)
dbSNP
10g.97611488T>CCA212683179HOGA1c.835-22T>C (n.835-22T>C)
c.346-22T>C (n.346-22T>C)
c.345+9498T>C (n.345+9498T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.97611488T=CA1930506956HOGA1c.835-22T= (n.835-22T=)
c.346-22T= (n.346-22T=)
c.345+9498T= (n.345+9498T=)
10g.97611489_97611490insAACA2574692848HOGA1c.835-21_835-20insAA (n.835-21_835-20insAA)
c.346-21_346-20insAA (n.346-21_346-20insAA)
c.345+9499_345+9500insAA (n.345+9499_345+9500insAA)
10g.97611490T>ACA2574692849HOGA1c.835-20T>A (n.835-20T>A)
c.346-20T>A (n.346-20T>A)
c.345+9500T>A (n.345+9500T>A)
ClinVar
10g.97611490T>CCA2610415304HOGA1c.835-20T>C (n.835-20T>C)
c.346-20T>C (n.346-20T>C)
c.345+9500T>C (n.345+9500T>C)
gnomAD v4
10g.97611491A>GCA2610415306HOGA1c.835-19A>G (n.835-19A>G)
c.346-19A>G (n.346-19A>G)
c.345+9501A>G (n.345+9501A>G)
gnomAD v4
10g.97611493C>GCA2574692850HOGA1c.835-17C>G (n.835-17C>G)
c.346-17C>G (n.346-17C>G)
c.345+9503C>G (n.345+9503C>G)
10g.97611497C>ACA2610415308HOGA1c.835-13C>A (n.835-13C>A)
c.346-13C>A (n.346-13C>A)
c.345+9507C>A (n.345+9507C>A)
gnomAD v4
10g.97611497C>TCA2574692851HOGA1c.835-13C>T (n.835-13C>T)
c.346-13C>T (n.346-13C>T)
c.345+9507C>T (n.345+9507C>T)
10g.97611498C=CA1930506958HOGA1c.835-12C= (n.835-12C=)
c.346-12C= (n.346-12C=)
c.345+9508C= (n.345+9508C=)
10g.97611498C>TCA670425709HOGA1c.835-12C>T (n.835-12C>T)
c.346-12C>T (n.346-12C>T)
c.345+9508C>T (n.345+9508C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.97611500T>CCA2610415309HOGA1c.835-10T>C (n.835-10T>C)
c.346-10T>C (n.346-10T>C)
c.345+9510T>C (n.345+9510T>C)
gnomAD v4
10g.97611501G>ACA931587743HOGA1c.835-9G>A (n.835-9G>A)
c.346-9G>A (n.346-9G>A)
c.345+9511G>A (n.345+9511G>A)
dbSNP gnomAD v3 gnomAD v4
10g.97611501G=CA1930506959HOGA1c.835-9G= (n.835-9G=)
c.346-9G= (n.346-9G=)
c.345+9511G= (n.345+9511G=)
10g.97611502C>GCA2610415310HOGA1c.835-8C>G (n.835-8C>G)
c.346-8C>G (n.346-8C>G)
c.345+9512C>G (n.345+9512C>G)
gnomAD v4
10g.97611503T>ACA595409821HOGA1c.835-7T>A (n.835-7T>A)
c.346-7T>A (n.346-7T>A)
c.345+9513T>A (n.345+9513T>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.97611503T>GCA5634289HOGA1c.835-7T>G (n.835-7T>G)
c.346-7T>G (n.346-7T>G)
c.345+9513T>G (n.345+9513T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611503T=CA1930506961HOGA1c.835-7T= (n.835-7T=)
c.346-7T= (n.346-7T=)
c.345+9513T= (n.345+9513T=)
10g.97611505T>CCA2574692852HOGA1c.835-5T>C (n.835-5T>C)
c.346-5T>C (n.346-5T>C)
c.345+9515T>C (n.345+9515T>C)
10g.97611505T>GCA2610415314HOGA1c.835-5T>G (n.835-5T>G)
c.346-5T>G (n.346-5T>G)
c.345+9515T>G (n.345+9515T>G)
gnomAD v4
10g.97611508A>CCA377983195HOGA1c.835-2A>C (n.835-2A>C)
c.346-2A>C (n.346-2A>C)
c.345+9518A>C (n.345+9518A>C)
10g.97611508A>GCA377983196HOGA1c.835-2A>G (n.835-2A>G)
c.346-2A>G (n.346-2A>G)
c.345+9518A>G (n.345+9518A>G)
10g.97611508A>TCA377983197HOGA1c.835-2A>T (n.835-2A>T)
c.346-2A>T (n.346-2A>T)
c.345+9518A>T (n.345+9518A>T)
10g.97611509G>ACA377983200HOGA1c.835-1G>A (n.835-1G>A)
c.346-1G>A (n.346-1G>A)
c.345+9519G>A (n.345+9519G>A)
10g.97611509G>CCA377983199HOGA1c.835-1G>C (n.835-1G>C)
c.346-1G>C (n.346-1G>C)
c.345+9519G>C (n.345+9519G>C)
10g.97611509G>TCA377983198HOGA1c.835-1G>T (n.835-1G>T)
c.346-1G>T (n.346-1G>T)
c.345+9519G>T (n.345+9519G>T)
10g.97611510G>ACA377983201HOGA1c.835G>A (p.Val279Met)
c.346G>A (p.Val116Met)
c.345+9520G>A (n.345+9520G>A)
gnomAD v4
10g.97611510G>CCA377983202HOGA1c.835G>C (p.Val279Leu)
c.346G>C (p.Val116Leu)
c.345+9520G>C (n.345+9520G>C)
10g.97611510G>TCA377983203HOGA1c.835G>T (p.Val279Leu)
c.346G>T (p.Val116Leu)
c.345+9520G>T (n.345+9520G>T)
10g.97611511T>ACA377983204HOGA1c.836T>A (p.Val279Glu)
c.347T>A (p.Val116Glu)
c.345+9521T>A (n.345+9521T>A)
10g.97611511T>CCA377983205HOGA1c.836T>C (p.Val279Ala)
c.347T>C (p.Val116Ala)
c.345+9521T>C (n.345+9521T>C)
10g.97611511T>GCA377983206HOGA1c.836T>G (p.Val279Gly)
c.347T>G (p.Val116Gly)
c.345+9521T>G (n.345+9521T>G)
10g.97611512G>ACA5634290HOGA1c.837G>A (p.Val279=)
c.348G>A (p.Val116=)
c.345+9522G>A (n.345+9522G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611512G>CCA471092701HOGA1c.837G>C (p.Val279=)
c.348G>C (p.Val116=)
c.345+9522G>C (n.345+9522G>C)
10g.97611512G=CA1930506963HOGA1c.837G= (p.Val279=)
c.348G= (p.Val116=)
c.345+9522G= (n.345+9522G=)
10g.97611512G>TCA471092702HOGA1c.837G>T (p.Val279=)
c.348G>T (p.Val116=)
c.345+9522G>T (n.345+9522G>T)
10g.97611513A>CCA377983207HOGA1c.838A>C (p.Thr280Pro)
c.349A>C (p.Thr117Pro)
c.345+9523A>C (n.345+9523A>C)
10g.97611513A>GCA377983208HOGA1c.838A>G (p.Thr280Ala)
c.349A>G (p.Thr117Ala)
c.345+9523A>G (n.345+9523A>G)
10g.97611513A>TCA377983209HOGA1c.838A>T (p.Thr280Ser)
c.349A>T (p.Thr117Ser)
c.345+9523A>T (n.345+9523A>T)
10g.97611514C>ACA377983210HOGA1c.839C>A (p.Thr280Asn)
c.350C>A (p.Thr117Asn)
c.345+9524C>A (n.345+9524C>A)
10g.97611514C=CA1930506964HOGA1c.839C= (p.Thr280=)
c.350C= (p.Thr117=)
c.345+9524C= (n.345+9524C=)
10g.97611514C>GCA5634291HOGA1c.839C>G (p.Thr280Ser)
c.350C>G (p.Thr117Ser)
c.345+9524C>G (n.345+9524C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611514C>TCA203964HOGA1c.839C>T (p.Thr280Ile)
c.350C>T (p.Thr117Ile)
c.345+9524C>T (n.345+9524C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.97611515C>ACA471092704HOGA1c.840C>A (p.Thr280=)
c.351C>A (p.Thr117=)
c.345+9525C>A (n.345+9525C>A)
10g.97611515C>GCA471092705HOGA1c.840C>G (p.Thr280=)
c.351C>G (p.Thr117=)
c.345+9525C>G (n.345+9525C>G)
10g.97611515C>TCA471092706HOGA1c.840C>T (p.Thr280=)
c.351C>T (p.Thr117=)
c.345+9525C>T (n.345+9525C>T)
10g.97611516C>ACA471092707HOGA1c.841C>A (p.Arg281=)
c.352C>A (p.Arg118=)
c.345+9526C>A (n.345+9526C>A)
10g.97611516C=CA1930506967HOGA1c.841C= (p.Arg281=)
c.352C= (p.Arg118=)
c.345+9526C= (n.345+9526C=)
10g.97611516C>GCA377983211HOGA1c.841C>G (p.Arg281Gly)
c.352C>G (p.Arg118Gly)
c.345+9526C>G (n.345+9526C>G)
gnomAD v4 COSMIC
10g.97611516C>TCA5634292HOGA1c.841C>T (p.Arg281Trp)
c.352C>T (p.Arg118Trp)
c.345+9526C>T (n.345+9526C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611517G>ACA5634293HOGA1c.842G>A (p.Arg281Gln)
c.353G>A (p.Arg118Gln)
c.345+9527G>A (n.345+9527G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611517G>CCA377983213HOGA1c.842G>C (p.Arg281Pro)
c.353G>C (p.Arg118Pro)
c.345+9527G>C (n.345+9527G>C)
10g.97611517G=CA1930506969HOGA1c.842G= (p.Arg281=)
c.353G= (p.Arg118=)
c.345+9527G= (n.345+9527G=)
10g.97611517G>TCA377983212HOGA1c.842G>T (p.Arg281Leu)
c.353G>T (p.Arg118Leu)
c.345+9527G>T (n.345+9527G>T)
10g.97611518G>ACA471092710HOGA1c.843G>A (p.Arg281=)
c.354G>A (p.Arg118=)
c.345+9528G>A (n.345+9528G>A)
dbSNP gnomAD v2 gnomAD v4
10g.97611518G>CCA471092708HOGA1c.843G>C (p.Arg281=)
c.354G>C (p.Arg118=)
c.345+9528G>C (n.345+9528G>C)
10g.97611518G=CA1930506971HOGA1c.843G= (p.Arg281=)
c.354G= (p.Arg118=)
c.345+9528G= (n.345+9528G=)
10g.97611518G>TCA471092709HOGA1c.843G>T (p.Arg281=)
c.354G>T (p.Arg118=)
c.345+9528G>T (n.345+9528G>T)
10g.97611519C>ACA5634294HOGA1c.844C>A (p.Arg282Ser)
c.355C>A (p.Arg119Ser)
c.345+9529C>A (n.345+9529C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611519C=CA1930506973HOGA1c.844C= (p.Arg282=)
c.355C= (p.Arg119=)
c.345+9529C= (n.345+9529C=)
10g.97611519C>GCA377983215HOGA1c.844C>G (p.Arg282Gly)
c.355C>G (p.Arg119Gly)
c.345+9529C>G (n.345+9529C>G)
10g.97611519C>TCA377983214HOGA1c.844C>T (p.Arg282Cys)
c.355C>T (p.Arg119Cys)
c.345+9529C>T (n.345+9529C>T)
ClinVar dbSNP gnomAD v4
10g.97611520G>ACA5634295HOGA1c.845G>A (p.Arg282His)
c.356G>A (p.Arg119His)
c.345+9530G>A (n.345+9530G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.97611520G>CCA377983216HOGA1c.845G>C (p.Arg282Pro)
c.356G>C (p.Arg119Pro)
c.345+9530G>C (n.345+9530G>C)
10g.97611520G=CA1930506977HOGA1c.845G= (p.Arg282=)
c.356G= (p.Arg119=)
c.345+9530G= (n.345+9530G=)
10g.97611520G>TCA377983217HOGA1c.845G>T (p.Arg282Leu)
c.356G>T (p.Arg119Leu)
c.345+9530G>T (n.345+9530G>T)
gnomAD v4
10g.97611521C>ACA471092712HOGA1c.846C>A (p.Arg282=)
c.357C>A (p.Arg119=)
c.345+9531C>A (n.345+9531C>A)
10g.97611521C=CA1930506980HOGA1c.846C= (p.Arg282=)
c.357C= (p.Arg119=)
c.345+9531C= (n.345+9531C=)
10g.97611521C>GCA471092713HOGA1c.846C>G (p.Arg282=)
c.357C>G (p.Arg119=)
c.345+9531C>G (n.345+9531C>G)
10g.97611521C>TCA5634296HOGA1c.846C>T (p.Arg282=)
c.357C>T (p.Arg119=)
c.345+9531C>T (n.345+9531C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611522T>ACA377983218HOGA1c.847T>A (p.Phe283Ile)
c.358T>A (p.Phe120Ile)
c.345+9532T>A (n.345+9532T>A)
10g.97611522T>CCA377983219HOGA1c.847T>C (p.Phe283Leu)
c.358T>C (p.Phe120Leu)
c.345+9532T>C (n.345+9532T>C)
10g.97611522T>GCA377983220HOGA1c.847T>G (p.Phe283Val)
c.358T>G (p.Phe120Val)
c.345+9532T>G (n.345+9532T>G)
10g.97611523T>ACA377983223HOGA1c.848T>A (p.Phe283Tyr)
c.359T>A (p.Phe120Tyr)
c.345+9533T>A (n.345+9533T>A)
10g.97611523T>CCA377983221HOGA1c.848T>C (p.Phe283Ser)
c.359T>C (p.Phe120Ser)
c.345+9533T>C (n.345+9533T>C)
10g.97611523T>GCA377983222HOGA1c.848T>G (p.Phe283Cys)
c.359T>G (p.Phe120Cys)
c.345+9533T>G (n.345+9533T>G)
10g.97611524T>ACA377983224HOGA1c.849T>A (p.Phe283Leu)
c.360T>A (p.Phe120Leu)
c.345+9534T>A (n.345+9534T>A)
10g.97611524T>CCA471092718HOGA1c.849T>C (p.Phe283=)
c.360T>C (p.Phe120=)
c.345+9534T>C (n.345+9534T>C)
gnomAD v4
10g.97611524T>GCA377983225HOGA1c.849T>G (p.Phe283Leu)
c.360T>G (p.Phe120Leu)
c.345+9534T>G (n.345+9534T>G)
10g.97611524_97611525insAGACA2789141881HOGA1c.849_850insAGA (p.Phe283_Gly284insArg)
c.360_361insAGA (p.Phe120_Gly121insArg)
c.345+9534_345+9535insAGA (n.345+9534_345+9535insAGA)
10g.97611525G>ACA377983226HOGA1c.850G>A (p.Gly284Arg)
c.361G>A (p.Gly121Arg)
c.345+9535G>A (n.345+9535G>A)
10g.97611525G>CCA377983227HOGA1c.850G>C (p.Gly284Arg)
c.361G>C (p.Gly121Arg)
c.345+9535G>C (n.345+9535G>C)
10g.97611525G>TCA377983229HOGA1c.850G>T (p.Gly284Trp)
c.361G>T (p.Gly121Trp)
c.345+9535G>T (n.345+9535G>T)
10g.97611526G>ACA377983232HOGA1c.851G>A (p.Gly284Glu)
c.362G>A (p.Gly121Glu)
c.345+9536G>A (n.345+9536G>A)
10g.97611526G>CCA377983236HOGA1c.851G>C (p.Gly284Ala)
c.362G>C (p.Gly121Ala)
c.345+9536G>C (n.345+9536G>C)
10g.97611526G>TCA377983234HOGA1c.851G>T (p.Gly284Val)
c.362G>T (p.Gly121Val)
c.345+9536G>T (n.345+9536G>T)
10g.97611527G>ACA471092719HOGA1c.852G>A (p.Gly284=)
c.363G>A (p.Gly121=)
c.345+9537G>A (n.345+9537G>A)
10g.97611527G>CCA5634297HOGA1c.852G>C (p.Gly284=)
c.363G>C (p.Gly121=)
c.345+9537G>C (n.345+9537G>C)
dbSNP ExAC gnomAD v2
10g.97611527G=CA1930506983HOGA1c.852G= (p.Gly284=)
c.363G= (p.Gly121=)
c.345+9537G= (n.345+9537G=)
10g.97611527G>TCA471092720HOGA1c.852G>T (p.Gly284=)
c.363G>T (p.Gly121=)
c.345+9537G>T (n.345+9537G>T)
10g.97611528A>CCA377983240HOGA1c.853A>C (p.Ile285Leu)
c.364A>C (p.Ile122Leu)
c.345+9538A>C (n.345+9538A>C)
10g.97611528A>GCA377983243HOGA1c.853A>G (p.Ile285Val)
c.364A>G (p.Ile122Val)
c.345+9538A>G (n.345+9538A>G)
COSMIC
10g.97611528A>TCA377983245HOGA1c.853A>T (p.Ile285Phe)
c.364A>T (p.Ile122Phe)
c.345+9538A>T (n.345+9538A>T)
10g.97611529T>ACA377983248HOGA1c.854T>A (p.Ile285Asn)
c.365T>A (p.Ile122Asn)
c.345+9539T>A (n.345+9539T>A)
10g.97611529T>CCA377983251HOGA1c.854T>C (p.Ile285Thr)
c.365T>C (p.Ile122Thr)
c.345+9539T>C (n.345+9539T>C)
10g.97611529T>GCA377983253HOGA1c.854T>G (p.Ile285Ser)
c.365T>G (p.Ile122Ser)
c.345+9539T>G (n.345+9539T>G)
10g.97611530C>ACA471092724HOGA1c.855C>A (p.Ile285=)
c.366C>A (p.Ile122=)
c.345+9540C>A (n.345+9540C>A)
dbSNP
10g.97611530C>GCA377983256HOGA1c.855C>G (p.Ile285Met)
c.366C>G (p.Ile122Met)
c.345+9540C>G (n.345+9540C>G)
10g.97611530C>TCA471092725HOGA1c.855C>T (p.Ile285=)
c.366C>T (p.Ile122=)
c.345+9540C>T (n.345+9540C>T)
gnomAD v4
10g.97611531C>ACA377983259HOGA1c.856C>A (p.Pro286Thr)
c.367C>A (p.Pro123Thr)
c.345+9541C>A (n.345+9541C>A)
10g.97611531C=CA1930506984HOGA1c.856C= (p.Pro286=)
c.367C= (p.Pro123=)
c.345+9541C= (n.345+9541C=)
10g.97611531C>GCA377983262HOGA1c.856C>G (p.Pro286Ala)
c.367C>G (p.Pro123Ala)
c.345+9541C>G (n.345+9541C>G)
10g.97611531C>TCA5634298HOGA1c.856C>T (p.Pro286Ser)
c.367C>T (p.Pro123Ser)
c.345+9541C>T (n.345+9541C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611532C>ACA377983266HOGA1c.857C>A (p.Pro286Gln)
c.368C>A (p.Pro123Gln)
c.345+9542C>A (n.345+9542C>A)
10g.97611532C>GCA377983270HOGA1c.857C>G (p.Pro286Arg)
c.368C>G (p.Pro123Arg)
c.345+9542C>G (n.345+9542C>G)
10g.97611532C>TCA377983268HOGA1c.857C>T (p.Pro286Leu)
c.368C>T (p.Pro123Leu)
c.345+9542C>T (n.345+9542C>T)
10g.97611533A>CCA471092726HOGA1c.858A>C (p.Pro286=)
c.369A>C (p.Pro123=)
c.345+9543A>C (n.345+9543A>C)
10g.97611533A>GCA471092727HOGA1c.858A>G (p.Pro286=)
c.369A>G (p.Pro123=)
c.345+9543A>G (n.345+9543A>G)
10g.97611533A>TCA471092728HOGA1c.858A>T (p.Pro286=)
c.369A>T (p.Pro123=)
c.345+9543A>T (n.345+9543A>T)
10g.97611534G>ACA377983272HOGA1c.859G>A (p.Gly287Arg)
c.370G>A (p.Gly124Arg)
c.345+9544G>A (n.345+9544G>A)
10g.97611534G>CCA377983274HOGA1c.859G>C (p.Gly287Arg)
c.370G>C (p.Gly124Arg)
c.345+9544G>C (n.345+9544G>C)
10g.97611534G>TCA377983276HOGA1c.859G>T (p.Gly287Trp)
c.370G>T (p.Gly124Trp)
c.345+9544G>T (n.345+9544G>T)
10g.97611535G>ACA5634299HOGA1c.860G>A (p.Gly287Glu)
c.371G>A (p.Gly124Glu)
c.345+9545G>A (n.345+9545G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611535G>CCA377983281HOGA1c.860G>C (p.Gly287Ala)
c.371G>C (p.Gly124Ala)
c.345+9545G>C (n.345+9545G>C)
10g.97611535G=CA1930506989HOGA1c.860G= (p.Gly287=)
c.371G= (p.Gly124=)
c.345+9545G= (n.345+9545G=)
10g.97611535G>TCA113813HOGA1c.860G>T (p.Gly287Val)
c.371G>T (p.Gly124Val)
c.345+9545G>T (n.345+9545G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611536G>ACA5634300HOGA1c.861G>A (p.Gly287=)
c.372G>A (p.Gly124=)
c.345+9546G>A (n.345+9546G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611536G>CCA471092733HOGA1c.861G>C (p.Gly287=)
c.372G>C (p.Gly124=)
c.345+9546G>C (n.345+9546G>C)
10g.97611536G=CA1930506993HOGA1c.861G= (p.Gly287=)
c.372G= (p.Gly124=)
c.345+9546G= (n.345+9546G=)
10g.97611536G>TCA471092734HOGA1c.861G>T (p.Gly287=)
c.372G>T (p.Gly124=)
c.345+9546G>T (n.345+9546G>T)
10g.97611537C>ACA377983287HOGA1c.862C>A (p.Leu288Met)
c.373C>A (p.Leu125Met)
c.345+9547C>A (n.345+9547C>A)
10g.97611537C=CA1930506995HOGA1c.862C= (p.Leu288=)
c.373C= (p.Leu125=)
c.345+9547C= (n.345+9547C=)
10g.97611537C>GCA377983289HOGA1c.862C>G (p.Leu288Val)
c.373C>G (p.Leu125Val)
c.345+9547C>G (n.345+9547C>G)
10g.97611537C>TCA471092735HOGA1c.862C>T (p.Leu288=)
c.373C>T (p.Leu125=)
c.345+9547C>T (n.345+9547C>T)
dbSNP gnomAD v3 gnomAD v4
10g.97611538T>ACA377983291HOGA1c.863T>A (p.Leu288Gln)
c.374T>A (p.Leu125Gln)
c.345+9548T>A (n.345+9548T>A)
10g.97611538T>CCA377983293HOGA1c.863T>C (p.Leu288Pro)
c.374T>C (p.Leu125Pro)
c.345+9548T>C (n.345+9548T>C)
10g.97611538T>GCA377983296HOGA1c.863T>G (p.Leu288Arg)
c.374T>G (p.Leu125Arg)
c.345+9548T>G (n.345+9548T>G)
dbSNP gnomAD v3 gnomAD v4
10g.97611538T=CA1930506997HOGA1c.863T= (p.Leu288=)
c.374T= (p.Leu125=)
c.345+9548T= (n.345+9548T=)
10g.97611539G>ACA471092739HOGA1c.864G>A (p.Leu288=)
c.375G>A (p.Leu125=)
c.345+9549G>A (n.345+9549G>A)
10g.97611539G>CCA471092740HOGA1c.864G>C (p.Leu288=)
c.375G>C (p.Leu125=)
c.345+9549G>C (n.345+9549G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.97611539G=CA1930506999HOGA1c.864G= (p.Leu288=)
c.375G= (p.Leu125=)
c.345+9549G= (n.345+9549G=)
10g.97611539G>TCA471092741HOGA1c.864G>T (p.Leu288=)
c.375G>T (p.Leu125=)
c.345+9549G>T (n.345+9549G>T)
10g.97611540A>CCA377983304HOGA1c.865A>C (p.Lys289Gln)
c.376A>C (p.Lys126Gln)
c.345+9550A>C (n.345+9550A>C)
10g.97611540A>GCA377983299HOGA1c.865A>G (p.Lys289Glu)
c.376A>G (p.Lys126Glu)
c.345+9550A>G (n.345+9550A>G)
10g.97611540A>TCA377983301HOGA1c.865A>T (p.Lys289Ter)
c.376A>T (p.Lys126Ter)
c.345+9550A>T (n.345+9550A>T)
10g.97611541A>CCA377983306HOGA1c.866A>C (p.Lys289Thr)
c.377A>C (p.Lys126Thr)
c.345+9551A>C (n.345+9551A>C)
10g.97611541A>GCA377983309HOGA1c.866A>G (p.Lys289Arg)
c.377A>G (p.Lys126Arg)
c.345+9551A>G (n.345+9551A>G)
10g.97611541A>TCA377983311HOGA1c.866A>T (p.Lys289Met)
c.377A>T (p.Lys126Met)
c.345+9551A>T (n.345+9551A>T)
10g.97611542G>ACA471092745HOGA1c.867G>A (p.Lys289=)
c.378G>A (p.Lys126=)
c.345+9552G>A (n.345+9552G>A)
10g.97611542G>CCA377983314HOGA1c.867G>C (p.Lys289Asn)
c.378G>C (p.Lys126Asn)
c.345+9552G>C (n.345+9552G>C)
10g.97611542G>TCA377983315HOGA1c.867G>T (p.Lys289Asn)
c.378G>T (p.Lys126Asn)
c.345+9552G>T (n.345+9552G>T)
COSMIC
10g.97611543A>CCA377983318HOGA1c.868A>C (p.Lys290Gln)
c.379A>C (p.Lys127Gln)
c.345+9553A>C (n.345+9553A>C)
10g.97611543A>GCA377983320HOGA1c.868A>G (p.Lys290Glu)
c.379A>G (p.Lys127Glu)
c.345+9553A>G (n.345+9553A>G)
10g.97611543A>TCA377983322HOGA1c.868A>T (p.Lys290Ter)
c.379A>T (p.Lys127Ter)
c.345+9553A>T (n.345+9553A>T)
10g.97611546delCA2610415435HOGA1c.871del (p.Ile291SerfsTer19)
c.382del (p.Ile128SerfsTer19)
c.345+9556del (n.345+9556del)
gnomAD v4
10g.97611544A>CCA377983325HOGA1c.869A>C (p.Lys290Thr)
c.380A>C (p.Lys127Thr)
c.345+9554A>C (n.345+9554A>C)
10g.97611544A>GCA377983327HOGA1c.869A>G (p.Lys290Arg)
c.380A>G (p.Lys127Arg)
c.345+9554A>G (n.345+9554A>G)
10g.97611544A>TCA377983329HOGA1c.869A>T (p.Lys290Ile)
c.380A>T (p.Lys127Ile)
c.345+9554A>T (n.345+9554A>T)
10g.97611545A>CCA377983334HOGA1c.870A>C (p.Lys290Asn)
c.381A>C (p.Lys127Asn)
c.345+9555A>C (n.345+9555A>C)
10g.97611545A>GCA471092747HOGA1c.870A>G (p.Lys290=)
c.381A>G (p.Lys127=)
c.345+9555A>G (n.345+9555A>G)
gnomAD v4
10g.97611545A>TCA377983332HOGA1c.870A>T (p.Lys290Asn)
c.381A>T (p.Lys127Asn)
c.345+9555A>T (n.345+9555A>T)
10g.97611546A>CCA377983337HOGA1c.871A>C (p.Ile291Leu)
c.382A>C (p.Ile128Leu)
c.345+9556A>C (n.345+9556A>C)
10g.97611546A>GCA377983339HOGA1c.871A>G (p.Ile291Val)
c.382A>G (p.Ile128Val)
c.345+9556A>G (n.345+9556A>G)
10g.97611546A>TCA377983341HOGA1c.871A>T (p.Ile291Phe)
c.382A>T (p.Ile128Phe)
c.345+9556A>T (n.345+9556A>T)
10g.97611547T>ACA377983344HOGA1c.872T>A (p.Ile291Asn)
c.383T>A (p.Ile128Asn)
c.345+9557T>A (n.345+9557T>A)
10g.97611547T>CCA377983346HOGA1c.872T>C (p.Ile291Thr)
c.383T>C (p.Ile128Thr)
c.345+9557T>C (n.345+9557T>C)
ClinVar dbSNP
10g.97611547T>GCA377983349HOGA1c.872T>G (p.Ile291Ser)
c.383T>G (p.Ile128Ser)
c.345+9557T>G (n.345+9557T>G)
10g.97611547T=CA1930507001HOGA1c.872T= (p.Ile291=)
c.383T= (p.Ile128=)
c.345+9557T= (n.345+9557T=)
10g.97611548C>ACA471092749HOGA1c.873C>A (p.Ile291=)
c.384C>A (p.Ile128=)
c.345+9558C>A (n.345+9558C>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.97611548C=CA1930507005HOGA1c.873C= (p.Ile291=)
c.384C= (p.Ile128=)
c.345+9558C= (n.345+9558C=)
10g.97611548C>GCA377983351HOGA1c.873C>G (p.Ile291Met)
c.384C>G (p.Ile128Met)
c.345+9558C>G (n.345+9558C>G)
10g.97611548C>TCA471092750HOGA1c.873C>T (p.Ile291=)
c.384C>T (p.Ile128=)
c.345+9558C>T (n.345+9558C>T)
ClinVar
10g.97611549A=CA1930507007HOGA1c.874A= (p.Met292=)
c.385A= (p.Met129=)
c.345+9559A= (n.345+9559A=)
10g.97611549A>CCA377983354HOGA1c.874A>C (p.Met292Leu)
c.385A>C (p.Met129Leu)
c.345+9559A>C (n.345+9559A>C)
10g.97611549A>GCA377983356HOGA1c.874A>G (p.Met292Val)
c.385A>G (p.Met129Val)
c.345+9559A>G (n.345+9559A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.97611549A>TCA377983359HOGA1c.874A>T (p.Met292Leu)
c.385A>T (p.Met129Leu)
c.345+9559A>T (n.345+9559A>T)
10g.97611550T>ACA377983362HOGA1c.875T>A (p.Met292Lys)
c.386T>A (p.Met129Lys)
c.345+9560T>A (n.345+9560T>A)
10g.97611550T>CCA203966HOGA1c.875T>C (p.Met292Thr)
c.386T>C (p.Met129Thr)
c.345+9560T>C (n.345+9560T>C)
ClinVar dbSNP gnomAD v4
10g.97611550T>GCA377983366HOGA1c.875T>G (p.Met292Arg)
c.386T>G (p.Met129Arg)
c.345+9560T>G (n.345+9560T>G)
10g.97611550T=CA1930507010HOGA1c.875T= (p.Met292=)
c.386T= (p.Met129=)
c.345+9560T= (n.345+9560T=)
10g.97611551G>ACA5634301HOGA1c.876G>A (p.Met292Ile)
c.387G>A (p.Met129Ile)
c.345+9561G>A (n.345+9561G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611551G>CCA377983372HOGA1c.876G>C (p.Met292Ile)
c.387G>C (p.Met129Ile)
c.345+9561G>C (n.345+9561G>C)
10g.97611551G=CA1930507011HOGA1c.876G= (p.Met292=)
c.387G= (p.Met129=)
c.345+9561G= (n.345+9561G=)
10g.97611551G>TCA377983369HOGA1c.876G>T (p.Met292Ile)
c.387G>T (p.Met129Ile)
c.345+9561G>T (n.345+9561G>T)

Number of alleles fetched