Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99420702A=CA1479994344ADH7c.656T= (p.Ile219=)
c.692T= (p.Ile231=)
c.716T= (p.Ile239=)
c.485T= (p.Ile162=)
4g.99420702A>CCA357497703ADH7c.656T>G (p.Ile219Ser)
c.692T>G (p.Ile231Ser)
c.716T>G (p.Ile239Ser)
c.485T>G (p.Ile162Ser)
4g.99420702A>GCA357497704ADH7c.656T>C (p.Ile219Thr)
c.692T>C (p.Ile231Thr)
c.716T>C (p.Ile239Thr)
c.485T>C (p.Ile162Thr)
4g.99420702A>TCA102646165ADH7c.656T>A (p.Ile219Asn)
c.692T>A (p.Ile231Asn)
c.716T>A (p.Ile239Asn)
c.485T>A (p.Ile162Asn)
dbSNP gnomAD v4
4g.99420703T>ACA357497705ADH7c.655A>T (p.Ile219Phe)
c.691A>T (p.Ile231Phe)
c.715A>T (p.Ile239Phe)
c.484A>T (p.Ile162Phe)
4g.99420703T>CCA357497706ADH7c.655A>G (p.Ile219Val)
c.691A>G (p.Ile231Val)
c.715A>G (p.Ile239Val)
c.484A>G (p.Ile162Val)
gnomAD v4
4g.99420703T>GCA357497707ADH7c.655A>C (p.Ile219Leu)
c.691A>C (p.Ile231Leu)
c.715A>C (p.Ile239Leu)
c.484A>C (p.Ile162Leu)
4g.99420704C>ACA357497708ADH7c.654G>T (p.Arg218Ser)
c.690G>T (p.Arg230Ser)
c.714G>T (p.Arg238Ser)
c.483G>T (p.Arg161Ser)
4g.99420704C=CA1479994348ADH7c.654G= (p.Arg218=)
c.690G= (p.Arg230=)
c.714G= (p.Arg238=)
c.483G= (p.Arg161=)
4g.99420704C>GCA357497709ADH7c.654G>C (p.Arg218Ser)
c.690G>C (p.Arg230Ser)
c.714G>C (p.Arg238Ser)
c.483G>C (p.Arg161Ser)
gnomAD v4
4g.99420704C>TCA3020761ADH7c.654G>A (p.Arg218=)
c.690G>A (p.Arg230=)
c.714G>A (p.Arg238=)
c.483G>A (p.Arg161=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420705C>ACA357497710ADH7c.653G>T (p.Arg218Met)
c.689G>T (p.Arg230Met)
c.713G>T (p.Arg238Met)
c.482G>T (p.Arg161Met)
4g.99420705C=CA1479994352ADH7c.653G= (p.Arg218=)
c.689G= (p.Arg230=)
c.713G= (p.Arg238=)
c.482G= (p.Arg161=)
4g.99420705C>GCA357497711ADH7c.653G>C (p.Arg218Thr)
c.689G>C (p.Arg230Thr)
c.713G>C (p.Arg238Thr)
c.482G>C (p.Arg161Thr)
4g.99420705C>TCA357497712ADH7c.653G>A (p.Arg218Lys)
c.689G>A (p.Arg230Lys)
c.713G>A (p.Arg238Lys)
c.482G>A (p.Arg161Lys)
dbSNP gnomAD v4
4g.99420706T>ACA357497713ADH7c.652A>T (p.Arg218Trp)
c.688A>T (p.Arg230Trp)
c.712A>T (p.Arg238Trp)
c.481A>T (p.Arg161Trp)
4g.99420706T>CCA357497714ADH7c.652A>G (p.Arg218Gly)
c.688A>G (p.Arg230Gly)
c.712A>G (p.Arg238Gly)
c.481A>G (p.Arg161Gly)
dbSNP gnomAD v3 gnomAD v4
4g.99420706T>GCA440506450ADH7c.652A>C (p.Arg218=)
c.688A>C (p.Arg230=)
c.712A>C (p.Arg238=)
c.481A>C (p.Arg161=)
4g.99420706T=CA1479994355ADH7c.652A= (p.Arg218=)
c.688A= (p.Arg230=)
c.712A= (p.Arg238=)
c.481A= (p.Arg161=)
4g.99420707A=CA1479994357ADH7c.651T= (p.Ser217=)
c.687T= (p.Ser229=)
c.711T= (p.Ser237=)
c.480T= (p.Ser160=)
4g.99420707A>CCA440506451ADH7c.651T>G (p.Ser217=)
c.687T>G (p.Ser229=)
c.711T>G (p.Ser237=)
c.480T>G (p.Ser160=)
4g.99420707A>GCA440506452ADH7c.651T>C (p.Ser217=)
c.687T>C (p.Ser229=)
c.711T>C (p.Ser237=)
c.480T>C (p.Ser160=)
dbSNP
4g.99420707A>TCA440506453ADH7c.651T>A (p.Ser217=)
c.687T>A (p.Ser229=)
c.711T>A (p.Ser237=)
c.480T>A (p.Ser160=)
dbSNP
4g.99420708G>ACA357497717ADH7c.650C>T (p.Ser217Phe)
c.686C>T (p.Ser229Phe)
c.710C>T (p.Ser237Phe)
c.479C>T (p.Ser160Phe)
4g.99420708G>CCA357497716ADH7c.650C>G (p.Ser217Cys)
c.686C>G (p.Ser229Cys)
c.710C>G (p.Ser237Cys)
c.479C>G (p.Ser160Cys)
gnomAD v4
4g.99420708G>TCA357497715ADH7c.650C>A (p.Ser217Tyr)
c.686C>A (p.Ser229Tyr)
c.710C>A (p.Ser237Tyr)
c.479C>A (p.Ser160Tyr)
4g.99420709A=CA1479994360ADH7c.649T= (p.Ser217=)
c.685T= (p.Ser229=)
c.709T= (p.Ser237=)
c.478T= (p.Ser160=)
4g.99420709A>CCA357497718ADH7c.649T>G (p.Ser217Ala)
c.685T>G (p.Ser229Ala)
c.709T>G (p.Ser237Ala)
c.478T>G (p.Ser160Ala)
4g.99420709A>GCA357497719ADH7c.649T>C (p.Ser217Pro)
c.685T>C (p.Ser229Pro)
c.709T>C (p.Ser237Pro)
c.478T>C (p.Ser160Pro)
4g.99420709A>TCA357497720ADH7c.649T>A (p.Ser217Thr)
c.685T>A (p.Ser229Thr)
c.709T>A (p.Ser237Thr)
c.478T>A (p.Ser160Thr)
dbSNP
4g.99420710T>ACA440506454ADH7c.648A>T (p.Ala216=)
c.684A>T (p.Ala228=)
c.708A>T (p.Ala236=)
c.477A>T (p.Ala159=)
4g.99420710T>CCA440506456ADH7c.648A>G (p.Ala216=)
c.684A>G (p.Ala228=)
c.708A>G (p.Ala236=)
c.477A>G (p.Ala159=)
gnomAD v4
4g.99420710T>GCA440506455ADH7c.648A>C (p.Ala216=)
c.684A>C (p.Ala228=)
c.708A>C (p.Ala236=)
c.477A>C (p.Ala159=)
4g.99420711G>ACA357497721ADH7c.647C>T (p.Ala216Val)
c.683C>T (p.Ala228Val)
c.707C>T (p.Ala236Val)
c.476C>T (p.Ala159Val)
4g.99420711G>CCA357497722ADH7c.647C>G (p.Ala216Gly)
c.683C>G (p.Ala228Gly)
c.707C>G (p.Ala236Gly)
c.476C>G (p.Ala159Gly)
4g.99420711G>TCA357497723ADH7c.647C>A (p.Ala216Glu)
c.683C>A (p.Ala228Glu)
c.707C>A (p.Ala236Glu)
c.476C>A (p.Ala159Glu)
gnomAD v4
4g.99420712C>ACA357497724ADH7c.646G>T (p.Ala216Ser)
c.682G>T (p.Ala228Ser)
c.706G>T (p.Ala236Ser)
c.475G>T (p.Ala159Ser)
dbSNP gnomAD v2 gnomAD v4
4g.99420712C=CA1479994363ADH7c.646G= (p.Ala216=)
c.682G= (p.Ala228=)
c.706G= (p.Ala236=)
c.475G= (p.Ala159=)
4g.99420712C>GCA357497725ADH7c.646G>C (p.Ala216Pro)
c.682G>C (p.Ala228Pro)
c.706G>C (p.Ala236Pro)
c.475G>C (p.Ala159Pro)
4g.99420712C>TCA3020762ADH7c.646G>A (p.Ala216Thr)
c.682G>A (p.Ala228Thr)
c.706G>A (p.Ala236Thr)
c.475G>A (p.Ala159Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420713A>CCA440506457ADH7c.645T>G (p.Gly215=)
c.681T>G (p.Gly227=)
c.705T>G (p.Gly235=)
c.474T>G (p.Gly158=)
4g.99420713A>GCA440506458ADH7c.645T>C (p.Gly215=)
c.681T>C (p.Gly227=)
c.705T>C (p.Gly235=)
c.474T>C (p.Gly158=)
4g.99420713A>TCA440506459ADH7c.645T>A (p.Gly215=)
c.681T>A (p.Gly227=)
c.705T>A (p.Gly235=)
c.474T>A (p.Gly158=)
4g.99420714C>ACA357497726ADH7c.644G>T (p.Gly215Val)
c.680G>T (p.Gly227Val)
c.704G>T (p.Gly235Val)
c.473G>T (p.Gly158Val)
4g.99420714C>GCA357497727ADH7c.644G>C (p.Gly215Ala)
c.680G>C (p.Gly227Ala)
c.704G>C (p.Gly235Ala)
c.473G>C (p.Gly158Ala)
gnomAD v4
4g.99420714C>TCA357497728ADH7c.644G>A (p.Gly215Asp)
c.680G>A (p.Gly227Asp)
c.704G>A (p.Gly235Asp)
c.473G>A (p.Gly158Asp)
4g.99420715C>ACA357497731ADH7c.643G>T (p.Gly215Cys)
c.679G>T (p.Gly227Cys)
c.703G>T (p.Gly235Cys)
c.472G>T (p.Gly158Cys)
4g.99420715C=CA1479994367ADH7c.643G= (p.Gly215=)
c.679G= (p.Gly227=)
c.703G= (p.Gly235=)
c.472G= (p.Gly158=)
4g.99420715C>GCA357497730ADH7c.643G>C (p.Gly215Arg)
c.679G>C (p.Gly227Arg)
c.703G>C (p.Gly235Arg)
c.472G>C (p.Gly158Arg)
4g.99420715C>TCA357497729ADH7c.643G>A (p.Gly215Ser)
c.679G>A (p.Gly227Ser)
c.703G>A (p.Gly235Ser)
c.472G>A (p.Gly158Ser)
dbSNP gnomAD v2 gnomAD v4
4g.99420716A>CCA440506460ADH7c.642T>G (p.Ala214=)
c.678T>G (p.Ala226=)
c.702T>G (p.Ala234=)
c.471T>G (p.Ala157=)
4g.99420716A>GCA440506461ADH7c.642T>C (p.Ala214=)
c.678T>C (p.Ala226=)
c.702T>C (p.Ala234=)
c.471T>C (p.Ala157=)
gnomAD v4
4g.99420716A>TCA440506462ADH7c.642T>A (p.Ala214=)
c.678T>A (p.Ala226=)
c.702T>A (p.Ala234=)
c.471T>A (p.Ala157=)
4g.99420717G>ACA357497732ADH7c.641C>T (p.Ala214Val)
c.677C>T (p.Ala226Val)
c.701C>T (p.Ala234Val)
c.470C>T (p.Ala157Val)
4g.99420717G>CCA357497734ADH7c.641C>G (p.Ala214Gly)
c.677C>G (p.Ala226Gly)
c.701C>G (p.Ala234Gly)
c.470C>G (p.Ala157Gly)
4g.99420717G>TCA357497733ADH7c.641C>A (p.Ala214Asp)
c.677C>A (p.Ala226Asp)
c.701C>A (p.Ala234Asp)
c.470C>A (p.Ala157Asp)
gnomAD v4
4g.99420718C>ACA357497735ADH7c.640G>T (p.Ala214Ser)
c.676G>T (p.Ala226Ser)
c.700G>T (p.Ala234Ser)
c.469G>T (p.Ala157Ser)
4g.99420718C>GCA357497736ADH7c.640G>C (p.Ala214Pro)
c.676G>C (p.Ala226Pro)
c.700G>C (p.Ala234Pro)
c.469G>C (p.Ala157Pro)
4g.99420718C>TCA357497737ADH7c.640G>A (p.Ala214Thr)
c.676G>A (p.Ala226Thr)
c.700G>A (p.Ala234Thr)
c.469G>A (p.Ala157Thr)
4g.99420719T>ACA440506463ADH7c.639A>T (p.Ser213=)
c.675A>T (p.Ser225=)
c.699A>T (p.Ser233=)
c.468A>T (p.Ser156=)
4g.99420719T>CCA440506464ADH7c.639A>G (p.Ser213=)
c.675A>G (p.Ser225=)
c.699A>G (p.Ser233=)
c.468A>G (p.Ser156=)
4g.99420719T>GCA440506465ADH7c.639A>C (p.Ser213=)
c.675A>C (p.Ser225=)
c.699A>C (p.Ser233=)
c.468A>C (p.Ser156=)
4g.99420724_99420740delCA2578151626ADH7c.623_639del (p.Ile208SerfsTer5)
c.659_675del (p.Ile220SerfsTer5)
c.683_699del (p.Ile228SerfsTer5)
c.452_468del (p.Ile151SerfsTer5)
4g.99420720G>ACA357497738ADH7c.638C>T (p.Ser213Leu)
c.674C>T (p.Ser225Leu)
c.698C>T (p.Ser233Leu)
c.467C>T (p.Ser156Leu)
COSMIC COSMIC
4g.99420720G>CCA357497739ADH7c.638C>G (p.Ser213Ter)
c.674C>G (p.Ser225Ter)
c.698C>G (p.Ser233Ter)
c.467C>G (p.Ser156Ter)
4g.99420720G>TCA357497740ADH7c.638C>A (p.Ser213Ter)
c.674C>A (p.Ser225Ter)
c.698C>A (p.Ser233Ter)
c.467C>A (p.Ser156Ter)
4g.99420721A>CCA357497741ADH7c.637T>G (p.Ser213Ala)
c.673T>G (p.Ser225Ala)
c.697T>G (p.Ser233Ala)
c.466T>G (p.Ser156Ala)
4g.99420721A>GCA357497742ADH7c.637T>C (p.Ser213Pro)
c.673T>C (p.Ser225Pro)
c.697T>C (p.Ser233Pro)
c.466T>C (p.Ser156Pro)
4g.99420721A>TCA357497743ADH7c.637T>A (p.Ser213Thr)
c.673T>A (p.Ser225Thr)
c.697T>A (p.Ser233Thr)
c.466T>A (p.Ser156Thr)
4g.99420722C>ACA357497744ADH7c.636G>T (p.Lys212Asn)
c.672G>T (p.Lys224Asn)
c.696G>T (p.Lys232Asn)
c.465G>T (p.Lys155Asn)
4g.99420722C=CA1479994370ADH7c.636G= (p.Lys212=)
c.672G= (p.Lys224=)
c.696G= (p.Lys232=)
c.465G= (p.Lys155=)
4g.99420722C>GCA357497745ADH7c.636G>C (p.Lys212Asn)
c.672G>C (p.Lys224Asn)
c.696G>C (p.Lys232Asn)
c.465G>C (p.Lys155Asn)
4g.99420722C>TCA440506466ADH7c.636G>A (p.Lys212=)
c.672G>A (p.Lys224=)
c.696G>A (p.Lys232=)
c.465G>A (p.Lys155=)
4g.99420723T>ACA357497748ADH7c.635A>T (p.Lys212Met)
c.671A>T (p.Lys224Met)
c.695A>T (p.Lys232Met)
c.464A>T (p.Lys155Met)
4g.99420723T>CCA357497746ADH7c.635A>G (p.Lys212Arg)
c.671A>G (p.Lys224Arg)
c.695A>G (p.Lys232Arg)
c.464A>G (p.Lys155Arg)
4g.99420723T>GCA357497747ADH7c.635A>C (p.Lys212Thr)
c.671A>C (p.Lys224Thr)
c.695A>C (p.Lys232Thr)
c.464A>C (p.Lys155Thr)
4g.99420724dupCA3020763ADH7c.635dup (p.Ser213ValfsTer6)
c.671dup (p.Ser225ValfsTer6)
c.695dup (p.Ser233ValfsTer6)
c.464dup (p.Ser156ValfsTer6)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420724T>ACA357497749ADH7c.634A>T (p.Lys212Ter)
c.670A>T (p.Lys224Ter)
c.694A>T (p.Lys232Ter)
c.463A>T (p.Lys155Ter)
4g.99420724T>CCA357497750ADH7c.634A>G (p.Lys212Glu)
c.670A>G (p.Lys224Glu)
c.694A>G (p.Lys232Glu)
c.463A>G (p.Lys155Glu)
4g.99420724T>GCA357497751ADH7c.634A>C (p.Lys212Gln)
c.670A>C (p.Lys224Gln)
c.694A>C (p.Lys232Gln)
c.463A>C (p.Lys155Gln)
dbSNP gnomAD v2
4g.99420724T=CA1479994377ADH7c.634A= (p.Lys212=)
c.670A= (p.Lys224=)
c.694A= (p.Lys232=)
c.463A= (p.Lys155=)
4g.99420725A>CCA357497752ADH7c.633T>G (p.Cys211Trp)
c.669T>G (p.Cys223Trp)
c.693T>G (p.Cys231Trp)
c.462T>G (p.Cys154Trp)
4g.99420725A>GCA440506468ADH7c.633T>C (p.Cys211=)
c.669T>C (p.Cys223=)
c.693T>C (p.Cys231=)
c.462T>C (p.Cys154=)
4g.99420725A>TCA357497753ADH7c.633T>A (p.Cys211Ter)
c.669T>A (p.Cys223Ter)
c.693T>A (p.Cys231Ter)
c.462T>A (p.Cys154Ter)
4g.99420725_99420728delinsACAGCA1479994378ADH7c.630_633delinsCTGT (p.Gly210=)
c.666_669delinsCTGT (p.Gly222=)
c.690_693delinsCTGT (p.Gly230=)
c.459_462delinsCTGT (p.Gly153=)
4g.99420726C>ACA357497754ADH7c.632G>T (p.Cys211Phe)
c.668G>T (p.Cys223Phe)
c.692G>T (p.Cys231Phe)
c.461G>T (p.Cys154Phe)
dbSNP gnomAD v2
4g.99420726C=CA1479994381ADH7c.632G= (p.Cys211=)
c.668G= (p.Cys223=)
c.692G= (p.Cys231=)
c.461G= (p.Cys154=)
4g.99420726C>GCA357497755ADH7c.632G>C (p.Cys211Ser)
c.668G>C (p.Cys223Ser)
c.692G>C (p.Cys231Ser)
c.461G>C (p.Cys154Ser)
gnomAD v4
4g.99420726C>TCA357497756ADH7c.632G>A (p.Cys211Tyr)
c.668G>A (p.Cys223Tyr)
c.692G>A (p.Cys231Tyr)
c.461G>A (p.Cys154Tyr)
4g.99420727_99420729delCA553568165ADH7c.630_632del (p.Cys211del)
c.666_668del (p.Cys223del)
c.690_692del (p.Cys231del)
c.459_461del (p.Cys154del)
dbSNP gnomAD v2
4g.99420727A>CCA357497757ADH7c.631T>G (p.Cys211Gly)
c.667T>G (p.Cys223Gly)
c.691T>G (p.Cys231Gly)
c.460T>G (p.Cys154Gly)
4g.99420727A>GCA357497758ADH7c.631T>C (p.Cys211Arg)
c.667T>C (p.Cys223Arg)
c.691T>C (p.Cys231Arg)
c.460T>C (p.Cys154Arg)
4g.99420727A>TCA357497759ADH7c.631T>A (p.Cys211Ser)
c.667T>A (p.Cys223Ser)
c.691T>A (p.Cys231Ser)
c.460T>A (p.Cys154Ser)
dbSNP
4g.99420728G>ACA440506469ADH7c.630C>T (p.Gly210=)
c.666C>T (p.Gly222=)
c.690C>T (p.Gly230=)
c.459C>T (p.Gly153=)
4g.99420728G>CCA440506470ADH7c.630C>G (p.Gly210=)
c.666C>G (p.Gly222=)
c.690C>G (p.Gly230=)
c.459C>G (p.Gly153=)
4g.99420728G>TCA440506471ADH7c.630C>A (p.Gly210=)
c.666C>A (p.Gly222=)
c.690C>A (p.Gly230=)
c.459C>A (p.Gly153=)
4g.99420729C>ACA3020764ADH7c.629G>T (p.Gly210Val)
c.665G>T (p.Gly222Val)
c.689G>T (p.Gly230Val)
c.458G>T (p.Gly153Val)
dbSNP ExAC gnomAD v2
4g.99420729C=CA1479994385ADH7c.629G= (p.Gly210=)
c.665G= (p.Gly222=)
c.689G= (p.Gly230=)
c.458G= (p.Gly153=)
4g.99420729C>GCA357497761ADH7c.629G>C (p.Gly210Ala)
c.665G>C (p.Gly222Ala)
c.689G>C (p.Gly230Ala)
c.458G>C (p.Gly153Ala)
4g.99420729C>TCA357497760ADH7c.629G>A (p.Gly210Asp)
c.665G>A (p.Gly222Asp)
c.689G>A (p.Gly230Asp)
c.458G>A (p.Gly153Asp)
4g.99420730C>ACA357497762ADH7c.628G>T (p.Gly210Cys)
c.664G>T (p.Gly222Cys)
c.688G>T (p.Gly230Cys)
c.457G>T (p.Gly153Cys)
4g.99420730C>GCA357497763ADH7c.628G>C (p.Gly210Arg)
c.664G>C (p.Gly222Arg)
c.688G>C (p.Gly230Arg)
c.457G>C (p.Gly153Arg)
4g.99420730C>TCA357497764ADH7c.628G>A (p.Gly210Ser)
c.664G>A (p.Gly222Ser)
c.688G>A (p.Gly230Ser)
c.457G>A (p.Gly153Ser)
4g.99420731C>ACA357497765ADH7c.627G>T (p.Met209Ile)
c.663G>T (p.Met221Ile)
c.687G>T (p.Met229Ile)
c.456G>T (p.Met152Ile)
4g.99420731C=CA1479994387ADH7c.627G= (p.Met209=)
c.663G= (p.Met221=)
c.687G= (p.Met229=)
c.456G= (p.Met152=)
4g.99420731C>GCA357497766ADH7c.627G>C (p.Met209Ile)
c.663G>C (p.Met221Ile)
c.687G>C (p.Met229Ile)
c.456G>C (p.Met152Ile)
4g.99420731C>TCA357497767ADH7c.627G>A (p.Met209Ile)
c.663G>A (p.Met221Ile)
c.687G>A (p.Met229Ile)
c.456G>A (p.Met152Ile)
dbSNP
4g.99420731_99420732delinsACCA645535904ADH7c.626_627delinsGT (p.Met209Ser)
c.662_663delinsGT (p.Met221Ser)
c.686_687delinsGT (p.Met229Ser)
c.455_456delinsGT (p.Met152Ser)
COSMIC
4g.99420732A=CA1479994389ADH7c.626T= (p.Met209=)
c.662T= (p.Met221=)
c.686T= (p.Met229=)
c.455T= (p.Met152=)
4g.99420732A>CCA357497768ADH7c.626T>G (p.Met209Arg)
c.662T>G (p.Met221Arg)
c.686T>G (p.Met229Arg)
c.455T>G (p.Met152Arg)
4g.99420732A>GCA357497769ADH7c.626T>C (p.Met209Thr)
c.662T>C (p.Met221Thr)
c.686T>C (p.Met229Thr)
c.455T>C (p.Met152Thr)
dbSNP gnomAD v4
4g.99420732A>TCA357497770ADH7c.626T>A (p.Met209Lys)
c.662T>A (p.Met221Lys)
c.686T>A (p.Met229Lys)
c.455T>A (p.Met152Lys)
dbSNP gnomAD v2 gnomAD v4
4g.99420733T>ACA357497771ADH7c.625A>T (p.Met209Leu)
c.661A>T (p.Met221Leu)
c.685A>T (p.Met229Leu)
c.454A>T (p.Met152Leu)
4g.99420733T>CCA357497772ADH7c.625A>G (p.Met209Val)
c.661A>G (p.Met221Val)
c.685A>G (p.Met229Val)
c.454A>G (p.Met152Val)
gnomAD v4
4g.99420733T>GCA357497773ADH7c.625A>C (p.Met209Leu)
c.661A>C (p.Met221Leu)
c.685A>C (p.Met229Leu)
c.454A>C (p.Met152Leu)
4g.99420734G>ACA440506473ADH7c.624C>T (p.Ile208=)
c.660C>T (p.Ile220=)
c.684C>T (p.Ile228=)
c.453C>T (p.Ile151=)
4g.99420734G>CCA357497774ADH7c.624C>G (p.Ile208Met)
c.660C>G (p.Ile220Met)
c.684C>G (p.Ile228Met)
c.453C>G (p.Ile151Met)
4g.99420734G>TCA440506474ADH7c.624C>A (p.Ile208=)
c.660C>A (p.Ile220=)
c.684C>A (p.Ile228=)
c.453C>A (p.Ile151=)
4g.99420735A>CCA357497777ADH7c.623T>G (p.Ile208Ser)
c.659T>G (p.Ile220Ser)
c.683T>G (p.Ile228Ser)
c.452T>G (p.Ile151Ser)
4g.99420735A>GCA357497775ADH7c.623T>C (p.Ile208Thr)
c.659T>C (p.Ile220Thr)
c.683T>C (p.Ile228Thr)
c.452T>C (p.Ile151Thr)
gnomAD v4
4g.99420735A>TCA357497776ADH7c.623T>A (p.Ile208Asn)
c.659T>A (p.Ile220Asn)
c.683T>A (p.Ile228Asn)
c.452T>A (p.Ile151Asn)
4g.99420736T>ACA357497778ADH7c.622A>T (p.Ile208Phe)
c.658A>T (p.Ile220Phe)
c.682A>T (p.Ile228Phe)
c.451A>T (p.Ile151Phe)
dbSNP gnomAD v3 gnomAD v4
4g.99420736T>CCA3020765ADH7c.622A>G (p.Ile208Val)
c.658A>G (p.Ile220Val)
c.682A>G (p.Ile228Val)
c.451A>G (p.Ile151Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420736T>GCA102646189ADH7c.622A>C (p.Ile208Leu)
c.658A>C (p.Ile220Leu)
c.682A>C (p.Ile228Leu)
c.451A>C (p.Ile151Leu)
dbSNP
4g.99420736T=CA1479994393ADH7c.622A= (p.Ile208=)
c.658A= (p.Ile220=)
c.682A= (p.Ile228=)
c.451A= (p.Ile151=)
4g.99420737G>ACA440506475ADH7c.621C>T (p.Val207=)
c.657C>T (p.Val219=)
c.681C>T (p.Val227=)
c.450C>T (p.Val150=)
4g.99420737G>CCA440506476ADH7c.621C>G (p.Val207=)
c.657C>G (p.Val219=)
c.681C>G (p.Val227=)
c.450C>G (p.Val150=)
4g.99420737G>TCA440506477ADH7c.621C>A (p.Val207=)
c.657C>A (p.Val219=)
c.681C>A (p.Val227=)
c.450C>A (p.Val150=)
gnomAD v4
4g.99420738A>CCA357497779ADH7c.620T>G (p.Val207Gly)
c.656T>G (p.Val219Gly)
c.680T>G (p.Val227Gly)
c.449T>G (p.Val150Gly)
4g.99420738A>GCA357497780ADH7c.620T>C (p.Val207Ala)
c.656T>C (p.Val219Ala)
c.680T>C (p.Val227Ala)
c.449T>C (p.Val150Ala)
4g.99420738A>TCA357497781ADH7c.620T>A (p.Val207Asp)
c.656T>A (p.Val219Asp)
c.680T>A (p.Val227Asp)
c.449T>A (p.Val150Asp)
4g.99420739C>ACA357497782ADH7c.619G>T (p.Val207Phe)
c.655G>T (p.Val219Phe)
c.679G>T (p.Val227Phe)
c.448G>T (p.Val150Phe)
4g.99420739C>GCA357497783ADH7c.619G>C (p.Val207Leu)
c.655G>C (p.Val219Leu)
c.679G>C (p.Val227Leu)
c.448G>C (p.Val150Leu)
4g.99420739C>TCA357497784ADH7c.619G>A (p.Val207Ile)
c.655G>A (p.Val219Ile)
c.679G>A (p.Val227Ile)
c.448G>A (p.Val150Ile)
4g.99420740T>ACA440506478ADH7c.618A>T (p.Ser206=)
c.654A>T (p.Ser218=)
c.678A>T (p.Ser226=)
c.447A>T (p.Ser149=)
dbSNP gnomAD v3 gnomAD v4
4g.99420740T>CCA440506479ADH7c.618A>G (p.Ser206=)
c.654A>G (p.Ser218=)
c.678A>G (p.Ser226=)
c.447A>G (p.Ser149=)
4g.99420740T>GCA440506480ADH7c.618A>C (p.Ser206=)
c.654A>C (p.Ser218=)
c.678A>C (p.Ser226=)
c.447A>C (p.Ser149=)
4g.99420740T=CA1479994397ADH7c.618A= (p.Ser206=)
c.654A= (p.Ser218=)
c.678A= (p.Ser226=)
c.447A= (p.Ser149=)
4g.99420741G>ACA357497785ADH7c.617C>T (p.Ser206Leu)
c.653C>T (p.Ser218Leu)
c.677C>T (p.Ser226Leu)
c.446C>T (p.Ser149Leu)
4g.99420741G>CCA357497786ADH7c.617C>G (p.Ser206Ter)
c.653C>G (p.Ser218Ter)
c.677C>G (p.Ser226Ter)
c.446C>G (p.Ser149Ter)
4g.99420741G>TCA357497787ADH7c.617C>A (p.Ser206Ter)
c.653C>A (p.Ser218Ter)
c.677C>A (p.Ser226Ter)
c.446C>A (p.Ser149Ter)
4g.99420742A>CCA357497789ADH7c.616T>G (p.Ser206Ala)
c.652T>G (p.Ser218Ala)
c.676T>G (p.Ser226Ala)
c.445T>G (p.Ser149Ala)
4g.99420742A>GCA357497790ADH7c.616T>C (p.Ser206Pro)
c.652T>C (p.Ser218Pro)
c.676T>C (p.Ser226Pro)
c.445T>C (p.Ser149Pro)
4g.99420742A>TCA357497788ADH7c.616T>A (p.Ser206Thr)
c.652T>A (p.Ser218Thr)
c.676T>A (p.Ser226Thr)
c.445T>A (p.Ser149Thr)
4g.99420743C>ACA440506481ADH7c.615G>T (p.Leu205=)
c.651G>T (p.Leu217=)
c.675G>T (p.Leu225=)
c.444G>T (p.Leu148=)
gnomAD v4
4g.99420743C>GCA440506482ADH7c.615G>C (p.Leu205=)
c.651G>C (p.Leu217=)
c.675G>C (p.Leu225=)
c.444G>C (p.Leu148=)
4g.99420743C>TCA440506483ADH7c.615G>A (p.Leu205=)
c.651G>A (p.Leu217=)
c.675G>A (p.Leu225=)
c.444G>A (p.Leu148=)
4g.99420744A>CCA357497792ADH7c.614T>G (p.Leu205Arg)
c.650T>G (p.Leu217Arg)
c.674T>G (p.Leu225Arg)
c.443T>G (p.Leu148Arg)
4g.99420744A>GCA357497791ADH7c.614T>C (p.Leu205Pro)
c.650T>C (p.Leu217Pro)
c.674T>C (p.Leu225Pro)
c.443T>C (p.Leu148Pro)
4g.99420744A>TCA357497793ADH7c.614T>A (p.Leu205Gln)
c.650T>A (p.Leu217Gln)
c.674T>A (p.Leu225Gln)
c.443T>A (p.Leu148Gln)
4g.99420745G>ACA440506484ADH7c.613C>T (p.Leu205=)
c.649C>T (p.Leu217=)
c.673C>T (p.Leu225=)
c.442C>T (p.Leu148=)
dbSNP gnomAD v2 gnomAD v4
4g.99420745G>CCA357497794ADH7c.613C>G (p.Leu205Val)
c.649C>G (p.Leu217Val)
c.673C>G (p.Leu225Val)
c.442C>G (p.Leu148Val)
4g.99420745G=CA1479994399ADH7c.613C= (p.Leu205=)
c.649C= (p.Leu217=)
c.673C= (p.Leu225=)
c.442C= (p.Leu148=)
4g.99420745G>TCA357497795ADH7c.613C>A (p.Leu205Met)
c.649C>A (p.Leu217Met)
c.673C>A (p.Leu225Met)
c.442C>A (p.Leu148Met)
4g.99420746G>ACA440506485ADH7c.612C>T (p.Gly204=)
c.648C>T (p.Gly216=)
c.672C>T (p.Gly224=)
c.441C>T (p.Gly147=)
dbSNP gnomAD v2 gnomAD v4
4g.99420746G>CCA440506486ADH7c.612C>G (p.Gly204=)
c.648C>G (p.Gly216=)
c.672C>G (p.Gly224=)
c.441C>G (p.Gly147=)
4g.99420746G=CA1479994404ADH7c.612C= (p.Gly204=)
c.648C= (p.Gly216=)
c.672C= (p.Gly224=)
c.441C= (p.Gly147=)
4g.99420746G>TCA440506487ADH7c.612C>A (p.Gly204=)
c.648C>A (p.Gly216=)
c.672C>A (p.Gly224=)
c.441C>A (p.Gly147=)
4g.99420747C>ACA3020767ADH7c.611G>T (p.Gly204Val)
c.647G>T (p.Gly216Val)
c.671G>T (p.Gly224Val)
c.440G>T (p.Gly147Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420747C=CA1479994407ADH7c.611G= (p.Gly204=)
c.647G= (p.Gly216=)
c.671G= (p.Gly224=)
c.440G= (p.Gly147=)
4g.99420747C>GCA357497796ADH7c.611G>C (p.Gly204Ala)
c.647G>C (p.Gly216Ala)
c.671G>C (p.Gly224Ala)
c.440G>C (p.Gly147Ala)
4g.99420747C>TCA3020766ADH7c.611G>A (p.Gly204Asp)
c.647G>A (p.Gly216Asp)
c.671G>A (p.Gly224Asp)
c.440G>A (p.Gly147Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420748C>ACA357497797ADH7c.610G>T (p.Gly204Cys)
c.646G>T (p.Gly216Cys)
c.670G>T (p.Gly224Cys)
c.439G>T (p.Gly147Cys)
4g.99420748C>GCA357497798ADH7c.610G>C (p.Gly204Arg)
c.646G>C (p.Gly216Arg)
c.670G>C (p.Gly224Arg)
c.439G>C (p.Gly147Arg)
4g.99420748C>TCA357497799ADH7c.610G>A (p.Gly204Ser)
c.646G>A (p.Gly216Ser)
c.670G>A (p.Gly224Ser)
c.439G>A (p.Gly147Ser)
gnomAD v4
4g.99420749A=CA1479994412ADH7c.609T= (p.Val203=)
c.645T= (p.Val215=)
c.669T= (p.Val223=)
c.438T= (p.Val146=)
4g.99420749A>CCA440506489ADH7c.609T>G (p.Val203=)
c.645T>G (p.Val215=)
c.669T>G (p.Val223=)
c.438T>G (p.Val146=)
dbSNP gnomAD v2 gnomAD v4
4g.99420749A>GCA440506490ADH7c.609T>C (p.Val203=)
c.645T>C (p.Val215=)
c.669T>C (p.Val223=)
c.438T>C (p.Val146=)
4g.99420749A>TCA440506491ADH7c.609T>A (p.Val203=)
c.645T>A (p.Val215=)
c.669T>A (p.Val223=)
c.438T>A (p.Val146=)
4g.99420750A>CCA357497800ADH7c.608T>G (p.Val203Gly)
c.644T>G (p.Val215Gly)
c.668T>G (p.Val223Gly)
c.437T>G (p.Val146Gly)
4g.99420750A>GCA357497801ADH7c.608T>C (p.Val203Ala)
c.644T>C (p.Val215Ala)
c.668T>C (p.Val223Ala)
c.437T>C (p.Val146Ala)
4g.99420750A>TCA357497802ADH7c.608T>A (p.Val203Asp)
c.644T>A (p.Val215Asp)
c.668T>A (p.Val223Asp)
c.437T>A (p.Val146Asp)
4g.99420751C>ACA3020768ADH7c.607G>T (p.Val203Phe)
c.643G>T (p.Val215Phe)
c.667G>T (p.Val223Phe)
c.436G>T (p.Val146Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420751C=CA1479994415ADH7c.607G= (p.Val203=)
c.643G= (p.Val215=)
c.667G= (p.Val223=)
c.436G= (p.Val146=)
4g.99420751C>GCA357497803ADH7c.607G>C (p.Val203Leu)
c.643G>C (p.Val215Leu)
c.667G>C (p.Val223Leu)
c.436G>C (p.Val146Leu)
4g.99420751C>TCA102646227ADH7c.607G>A (p.Val203Ile)
c.643G>A (p.Val215Ile)
c.667G>A (p.Val223Ile)
c.436G>A (p.Val146Ile)
dbSNP
4g.99420752T>ACA440506494ADH7c.606A>T (p.Gly202=)
c.642A>T (p.Gly214=)
c.666A>T (p.Gly222=)
c.435A>T (p.Gly145=)
4g.99420752T>CCA440506493ADH7c.606A>G (p.Gly202=)
c.642A>G (p.Gly214=)
c.666A>G (p.Gly222=)
c.435A>G (p.Gly145=)
4g.99420752T>GCA440506492ADH7c.606A>C (p.Gly202=)
c.642A>C (p.Gly214=)
c.666A>C (p.Gly222=)
c.435A>C (p.Gly145=)
4g.99420753C>ACA357497804ADH7c.605G>T (p.Gly202Val)
c.641G>T (p.Gly214Val)
c.665G>T (p.Gly222Val)
c.434G>T (p.Gly145Val)
4g.99420753C>GCA357497805ADH7c.605G>C (p.Gly202Ala)
c.641G>C (p.Gly214Ala)
c.665G>C (p.Gly222Ala)
c.434G>C (p.Gly145Ala)
4g.99420753C>TCA357497806ADH7c.605G>A (p.Gly202Glu)
c.641G>A (p.Gly214Glu)
c.665G>A (p.Gly222Glu)
c.434G>A (p.Gly145Glu)
COSMIC COSMIC
4g.99420754C>ACA357497807ADH7c.604G>T (p.Gly202Ter)
c.640G>T (p.Gly214Ter)
c.664G>T (p.Gly222Ter)
c.433G>T (p.Gly145Ter)
4g.99420754C=CA1479994417ADH7c.604G= (p.Gly202=)
c.640G= (p.Gly214=)
c.664G= (p.Gly222=)
c.433G= (p.Gly145=)
4g.99420754C>GCA357497808ADH7c.604G>C (p.Gly202Arg)
c.640G>C (p.Gly214Arg)
c.664G>C (p.Gly222Arg)
c.433G>C (p.Gly145Arg)
4g.99420754C>TCA102646237ADH7c.604G>A (p.Gly202Arg)
c.640G>A (p.Gly214Arg)
c.664G>A (p.Gly222Arg)
c.433G>A (p.Gly145Arg)
dbSNP
4g.99420755T>ACA440506497ADH7c.603A>T (p.Gly201=)
c.639A>T (p.Gly213=)
c.663A>T (p.Gly221=)
c.432A>T (p.Gly144=)
4g.99420755T>CCA440506496ADH7c.603A>G (p.Gly201=)
c.639A>G (p.Gly213=)
c.663A>G (p.Gly221=)
c.432A>G (p.Gly144=)
4g.99420755T>GCA440506495ADH7c.603A>C (p.Gly201=)
c.639A>C (p.Gly213=)
c.663A>C (p.Gly221=)
c.432A>C (p.Gly144=)
4g.99420756C>ACA357497809ADH7c.602G>T (p.Gly201Val)
c.638G>T (p.Gly213Val)
c.662G>T (p.Gly221Val)
c.431G>T (p.Gly144Val)
4g.99420756C=CA1479994421ADH7c.602G= (p.Gly201=)
c.638G= (p.Gly213=)
c.662G= (p.Gly221=)
c.431G= (p.Gly144=)
4g.99420756C>GCA357497811ADH7c.602G>C (p.Gly201Ala)
c.638G>C (p.Gly213Ala)
c.662G>C (p.Gly221Ala)
c.431G>C (p.Gly144Ala)
4g.99420756C>TCA357497810ADH7c.602G>A (p.Gly201Glu)
c.638G>A (p.Gly213Glu)
c.662G>A (p.Gly221Glu)
c.431G>A (p.Gly144Glu)
dbSNP gnomAD v3 gnomAD v4
4g.99420757C>ACA357497812ADH7c.601G>T (p.Gly201Ter)
c.637G>T (p.Gly213Ter)
c.661G>T (p.Gly221Ter)
c.430G>T (p.Gly144Ter)
4g.99420757C=CA1479994424ADH7c.601G= (p.Gly201=)
c.637G= (p.Gly213=)
c.661G= (p.Gly221=)
c.430G= (p.Gly144=)
4g.99420757C>GCA357497813ADH7c.601G>C (p.Gly201Arg)
c.637G>C (p.Gly213Arg)
c.661G>C (p.Gly221Arg)
c.430G>C (p.Gly144Arg)
4g.99420757C>TCA357497814ADH7c.601G>A (p.Gly201Arg)
c.637G>A (p.Gly213Arg)
c.661G>A (p.Gly221Arg)
c.430G>A (p.Gly144Arg)
dbSNP gnomAD v4
4g.99420758C>ACA440506498ADH7c.600G>T (p.Leu200=)
c.636G>T (p.Leu212=)
c.660G>T (p.Leu220=)
c.429G>T (p.Leu143=)
4g.99420758C=CA1479994426ADH7c.600G= (p.Leu200=)
c.636G= (p.Leu212=)
c.660G= (p.Leu220=)
c.429G= (p.Leu143=)
4g.99420758C>GCA440506499ADH7c.600G>C (p.Leu200=)
c.636G>C (p.Leu212=)
c.660G>C (p.Leu220=)
c.429G>C (p.Leu143=)
dbSNP gnomAD v4
4g.99420758C>TCA3020769ADH7c.600G>A (p.Leu200=)
c.636G>A (p.Leu212=)
c.660G>A (p.Leu220=)
c.429G>A (p.Leu143=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420759A=CA1479994429ADH7c.599T= (p.Leu200=)
c.635T= (p.Leu212=)
c.659T= (p.Leu220=)
c.428T= (p.Leu143=)
4g.99420759A>CCA3020770ADH7c.599T>G (p.Leu200Arg)
c.635T>G (p.Leu212Arg)
c.659T>G (p.Leu220Arg)
c.428T>G (p.Leu143Arg)
dbSNP ExAC gnomAD v2
4g.99420759A>GCA357497815ADH7c.599T>C (p.Leu200Pro)
c.635T>C (p.Leu212Pro)
c.659T>C (p.Leu220Pro)
c.428T>C (p.Leu143Pro)
4g.99420759A>TCA357497816ADH7c.599T>A (p.Leu200Gln)
c.635T>A (p.Leu212Gln)
c.659T>A (p.Leu220Gln)
c.428T>A (p.Leu143Gln)
4g.99420760G>ACA440506500ADH7c.598C>T (p.Leu200=)
c.634C>T (p.Leu212=)
c.658C>T (p.Leu220=)
c.427C>T (p.Leu143=)
4g.99420760G>CCA357497817ADH7c.598C>G (p.Leu200Val)
c.634C>G (p.Leu212Val)
c.658C>G (p.Leu220Val)
c.427C>G (p.Leu143Val)
4g.99420760G>TCA357497818ADH7c.598C>A (p.Leu200Met)
c.634C>A (p.Leu212Met)
c.658C>A (p.Leu220Met)
c.427C>A (p.Leu143Met)
4g.99420761G>ACA440506501ADH7c.597C>T (p.Gly199=)
c.633C>T (p.Gly211=)
c.657C>T (p.Gly219=)
c.426C>T (p.Gly142=)
gnomAD v4
4g.99420761G>CCA440506502ADH7c.597C>G (p.Gly199=)
c.633C>G (p.Gly211=)
c.657C>G (p.Gly219=)
c.426C>G (p.Gly142=)
4g.99420761G>TCA440506503ADH7c.597C>A (p.Gly199=)
c.633C>A (p.Gly211=)
c.657C>A (p.Gly219=)
c.426C>A (p.Gly142=)
4g.99420762C>ACA357497819ADH7c.596G>T (p.Gly199Val)
c.632G>T (p.Gly211Val)
c.656G>T (p.Gly219Val)
c.425G>T (p.Gly142Val)
4g.99420762C>GCA357497820ADH7c.596G>C (p.Gly199Ala)
c.632G>C (p.Gly211Ala)
c.656G>C (p.Gly219Ala)
c.425G>C (p.Gly142Ala)
4g.99420762C>TCA357497821ADH7c.596G>A (p.Gly199Asp)
c.632G>A (p.Gly211Asp)
c.656G>A (p.Gly219Asp)
c.425G>A (p.Gly142Asp)
4g.99420763C>ACA357497824ADH7c.595G>T (p.Gly199Cys)
c.631G>T (p.Gly211Cys)
c.655G>T (p.Gly219Cys)
c.424G>T (p.Gly142Cys)
4g.99420763C>GCA357497822ADH7c.595G>C (p.Gly199Arg)
c.631G>C (p.Gly211Arg)
c.655G>C (p.Gly219Arg)
c.424G>C (p.Gly142Arg)
4g.99420763C>TCA357497823ADH7c.595G>A (p.Gly199Ser)
c.631G>A (p.Gly211Ser)
c.655G>A (p.Gly219Ser)
c.424G>A (p.Gly142Ser)
4g.99420764A>CCA357497825ADH7c.594T>G (p.Phe198Leu)
c.630T>G (p.Phe210Leu)
c.654T>G (p.Phe218Leu)
c.423T>G (p.Phe141Leu)
COSMIC
4g.99420764A>GCA440506504ADH7c.594T>C (p.Phe198=)
c.630T>C (p.Phe210=)
c.654T>C (p.Phe218=)
c.423T>C (p.Phe141=)
4g.99420764A>TCA357497826ADH7c.594T>A (p.Phe198Leu)
c.630T>A (p.Phe210Leu)
c.654T>A (p.Phe218Leu)
c.423T>A (p.Phe141Leu)
4g.99420765A=CA1479994431ADH7c.593T= (p.Phe198=)
c.629T= (p.Phe210=)
c.653T= (p.Phe218=)
c.422T= (p.Phe141=)
4g.99420765A>CCA357497827ADH7c.593T>G (p.Phe198Cys)
c.629T>G (p.Phe210Cys)
c.653T>G (p.Phe218Cys)
c.422T>G (p.Phe141Cys)
4g.99420765A>GCA3020771ADH7c.593T>C (p.Phe198Ser)
c.629T>C (p.Phe210Ser)
c.653T>C (p.Phe218Ser)
c.422T>C (p.Phe141Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420765A>TCA357497828ADH7c.593T>A (p.Phe198Tyr)
c.629T>A (p.Phe210Tyr)
c.653T>A (p.Phe218Tyr)
c.422T>A (p.Phe141Tyr)
4g.99420766A>CCA357497829ADH7c.592T>G (p.Phe198Val)
c.628T>G (p.Phe210Val)
c.652T>G (p.Phe218Val)
c.421T>G (p.Phe141Val)
4g.99420766A>GCA357497830ADH7c.592T>C (p.Phe198Leu)
c.628T>C (p.Phe210Leu)
c.652T>C (p.Phe218Leu)
c.421T>C (p.Phe141Leu)
4g.99420766A>TCA357497831ADH7c.592T>A (p.Phe198Ile)
c.628T>A (p.Phe210Ile)
c.652T>A (p.Phe218Ile)
c.421T>A (p.Phe141Ile)
4g.99420767G>ACA3020772ADH7c.591C>T (p.Val197=)
c.627C>T (p.Val209=)
c.651C>T (p.Val217=)
c.420C>T (p.Val140=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420767G>CCA440506506ADH7c.591C>G (p.Val197=)
c.627C>G (p.Val209=)
c.651C>G (p.Val217=)
c.420C>G (p.Val140=)
4g.99420767G=CA1479994433ADH7c.591C= (p.Val197=)
c.627C= (p.Val209=)
c.651C= (p.Val217=)
c.420C= (p.Val140=)
4g.99420767G>TCA440506505ADH7c.591C>A (p.Val197=)
c.627C>A (p.Val209=)
c.651C>A (p.Val217=)
c.420C>A (p.Val140=)
4g.99420768A=CA1479994437ADH7c.590T= (p.Val197=)
c.626T= (p.Val209=)
c.650T= (p.Val217=)
c.419T= (p.Val140=)
4g.99420768A>CCA357497832ADH7c.590T>G (p.Val197Gly)
c.626T>G (p.Val209Gly)
c.650T>G (p.Val217Gly)
c.419T>G (p.Val140Gly)
4g.99420768A>GCA3020773ADH7c.590T>C (p.Val197Ala)
c.626T>C (p.Val209Ala)
c.650T>C (p.Val217Ala)
c.419T>C (p.Val140Ala)
dbSNP ExAC gnomAD v3 gnomAD v4
4g.99420768A>TCA357497833ADH7c.590T>A (p.Val197Asp)
c.626T>A (p.Val209Asp)
c.650T>A (p.Val217Asp)
c.419T>A (p.Val140Asp)
4g.99420769C>ACA357497835ADH7c.589G>T (p.Val197Phe)
c.625G>T (p.Val209Phe)
c.649G>T (p.Val217Phe)
c.418G>T (p.Val140Phe)
gnomAD v4
4g.99420769C=CA1479994443ADH7c.589G= (p.Val197=)
c.625G= (p.Val209=)
c.649G= (p.Val217=)
c.418G= (p.Val140=)
4g.99420769C>GCA357497834ADH7c.589G>C (p.Val197Leu)
c.625G>C (p.Val209Leu)
c.649G>C (p.Val217Leu)
c.418G>C (p.Val140Leu)
4g.99420769C>TCA3020774ADH7c.589G>A (p.Val197Ile)
c.625G>A (p.Val209Ile)
c.649G>A (p.Val217Ile)
c.418G>A (p.Val140Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420769_99420770insACCCCA2762806156ADH7c.589_590insGGTG (p.Val197GlyfsTer17)
c.625_626insGGTG (p.Val209GlyfsTer17)
c.649_650insGGTG (p.Val217GlyfsTer17)
c.418_419insGGTG (p.Val140GlyfsTer17)
4g.99420770G>ACA102646312ADH7c.588C>T (p.Val196=)
c.624C>T (p.Val208=)
c.648C>T (p.Val216=)
c.417C>T (p.Val139=)
dbSNP gnomAD v4 COSMIC COSMIC
4g.99420770G>CCA440506507ADH7c.588C>G (p.Val196=)
c.624C>G (p.Val208=)
c.648C>G (p.Val216=)
c.417C>G (p.Val139=)
4g.99420770G=CA1479994448ADH7c.588C= (p.Val196=)
c.624C= (p.Val208=)
c.648C= (p.Val216=)
c.417C= (p.Val139=)
4g.99420770G>TCA440506508ADH7c.588C>A (p.Val196=)
c.624C>A (p.Val208=)
c.648C>A (p.Val216=)
c.417C>A (p.Val139=)
4g.99420771A>CCA357497836ADH7c.587T>G (p.Val196Gly)
c.623T>G (p.Val208Gly)
c.647T>G (p.Val216Gly)
c.416T>G (p.Val139Gly)
4g.99420771A>GCA357497837ADH7c.587T>C (p.Val196Ala)
c.623T>C (p.Val208Ala)
c.647T>C (p.Val216Ala)
c.416T>C (p.Val139Ala)
4g.99420771A>TCA357497838ADH7c.587T>A (p.Val196Asp)
c.623T>A (p.Val208Asp)
c.647T>A (p.Val216Asp)
c.416T>A (p.Val139Asp)
4g.99420772C>ACA3020776ADH7c.586G>T (p.Val196Phe)
c.622G>T (p.Val208Phe)
c.646G>T (p.Val216Phe)
c.415G>T (p.Val139Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420772C=CA1479994453ADH7c.586G= (p.Val196=)
c.622G= (p.Val208=)
c.646G= (p.Val216=)
c.415G= (p.Val139=)
4g.99420772C>GCA102646339ADH7c.586G>C (p.Val196Leu)
c.622G>C (p.Val208Leu)
c.646G>C (p.Val216Leu)
c.415G>C (p.Val139Leu)
dbSNP gnomAD v4
4g.99420772C>TCA3020775ADH7c.586G>A (p.Val196Ile)
c.622G>A (p.Val208Ile)
c.646G>A (p.Val216Ile)
c.415G>A (p.Val139Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420773G>ACA3020777ADH7c.585C>T (p.Cys195=)
c.621C>T (p.Cys207=)
c.645C>T (p.Cys215=)
c.414C>T (p.Cys138=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.99420773G>CCA102646361ADH7c.585C>G (p.Cys195Trp)
c.621C>G (p.Cys207Trp)
c.645C>G (p.Cys215Trp)
c.414C>G (p.Cys138Trp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420773G=CA1479994457ADH7c.585C= (p.Cys195=)
c.621C= (p.Cys207=)
c.645C= (p.Cys215=)
c.414C= (p.Cys138=)
4g.99420773G>TCA357497839ADH7c.585C>A (p.Cys195Ter)
c.621C>A (p.Cys207Ter)
c.645C>A (p.Cys215Ter)
c.414C>A (p.Cys138Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420774C>ACA357497840ADH7c.584G>T (p.Cys195Phe)
c.620G>T (p.Cys207Phe)
c.644G>T (p.Cys215Phe)
c.413G>T (p.Cys138Phe)
4g.99420774C>GCA357497841ADH7c.584G>C (p.Cys195Ser)
c.620G>C (p.Cys207Ser)
c.644G>C (p.Cys215Ser)
c.413G>C (p.Cys138Ser)
4g.99420774C>TCA357497842ADH7c.584G>A (p.Cys195Tyr)
c.620G>A (p.Cys207Tyr)
c.644G>A (p.Cys215Tyr)
c.413G>A (p.Cys138Tyr)
4g.99420775A>CCA357497844ADH7c.583T>G (p.Cys195Gly)
c.619T>G (p.Cys207Gly)
c.643T>G (p.Cys215Gly)
c.412T>G (p.Cys138Gly)
4g.99420775A>GCA357497845ADH7c.583T>C (p.Cys195Arg)
c.619T>C (p.Cys207Arg)
c.643T>C (p.Cys215Arg)
c.412T>C (p.Cys138Arg)
4g.99420775A>TCA357497843ADH7c.583T>A (p.Cys195Ser)
c.619T>A (p.Cys207Ser)
c.643T>A (p.Cys215Ser)
c.412T>A (p.Cys138Ser)
4g.99420776A=CA1479994461ADH7c.582T= (p.Thr194=)
c.618T= (p.Thr206=)
c.642T= (p.Thr214=)
c.411T= (p.Thr137=)
4g.99420776A>CCA3020779ADH7c.582T>G (p.Thr194=)
c.618T>G (p.Thr206=)
c.642T>G (p.Thr214=)
c.411T>G (p.Thr137=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420776A>GCA3020778ADH7c.582T>C (p.Thr194=)
c.618T>C (p.Thr206=)
c.642T>C (p.Thr214=)
c.411T>C (p.Thr137=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420776A>TCA440506509ADH7c.582T>A (p.Thr194=)
c.618T>A (p.Thr206=)
c.642T>A (p.Thr214=)
c.411T>A (p.Thr137=)
4g.99420777G>ACA3020780ADH7c.581C>T (p.Thr194Ile)
c.617C>T (p.Thr206Ile)
c.641C>T (p.Thr214Ile)
c.410C>T (p.Thr137Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420777G>CCA357497846ADH7c.581C>G (p.Thr194Ser)
c.617C>G (p.Thr206Ser)
c.641C>G (p.Thr214Ser)
c.410C>G (p.Thr137Ser)
gnomAD v4
4g.99420777G=CA1479994463ADH7c.581C= (p.Thr194=)
c.617C= (p.Thr206=)
c.641C= (p.Thr214=)
c.410C= (p.Thr137=)
4g.99420777G>TCA357497847ADH7c.581C>A (p.Thr194Asn)
c.617C>A (p.Thr206Asn)
c.641C>A (p.Thr214Asn)
c.410C>A (p.Thr137Asn)
4g.99420778T>ACA357497848ADH7c.580A>T (p.Thr194Ser)
c.616A>T (p.Thr206Ser)
c.640A>T (p.Thr214Ser)
c.409A>T (p.Thr137Ser)
dbSNP gnomAD v4
4g.99420778T>CCA357497849ADH7c.580A>G (p.Thr194Ala)
c.616A>G (p.Thr206Ala)
c.640A>G (p.Thr214Ala)
c.409A>G (p.Thr137Ala)
gnomAD v4
4g.99420778T>GCA357497850ADH7c.580A>C (p.Thr194Pro)
c.616A>C (p.Thr206Pro)
c.640A>C (p.Thr214Pro)
c.409A>C (p.Thr137Pro)
4g.99420778T=CA1479994468ADH7c.580A= (p.Thr194=)
c.616A= (p.Thr206=)
c.640A= (p.Thr214=)
c.409A= (p.Thr137=)
4g.99420779G>ACA440506510ADH7c.579C>T (p.Ser193=)
c.615C>T (p.Ser205=)
c.639C>T (p.Ser213=)
c.408C>T (p.Ser136=)
gnomAD v4
4g.99420779G>CCA440506511ADH7c.579C>G (p.Ser193=)
c.615C>G (p.Ser205=)
c.639C>G (p.Ser213=)
c.408C>G (p.Ser136=)
4g.99420779G>TCA440506512ADH7c.579C>A (p.Ser193=)
c.615C>A (p.Ser205=)
c.639C>A (p.Ser213=)
c.408C>A (p.Ser136=)
4g.99420780G>ACA357497851ADH7c.578C>T (p.Ser193Phe)
c.614C>T (p.Ser205Phe)
c.638C>T (p.Ser213Phe)
c.407C>T (p.Ser136Phe)
gnomAD v4
4g.99420780G>CCA357497852ADH7c.578C>G (p.Ser193Cys)
c.614C>G (p.Ser205Cys)
c.638C>G (p.Ser213Cys)
c.407C>G (p.Ser136Cys)
4g.99420780G>TCA357497853ADH7c.578C>A (p.Ser193Tyr)
c.614C>A (p.Ser205Tyr)
c.638C>A (p.Ser213Tyr)
c.407C>A (p.Ser136Tyr)
gnomAD v4
4g.99420781A>CCA357497854ADH7c.577T>G (p.Ser193Ala)
c.613T>G (p.Ser205Ala)
c.637T>G (p.Ser213Ala)
c.406T>G (p.Ser136Ala)
4g.99420781A>GCA357497855ADH7c.577T>C (p.Ser193Pro)
c.613T>C (p.Ser205Pro)
c.637T>C (p.Ser213Pro)
c.406T>C (p.Ser136Pro)
4g.99420781A>TCA357497856ADH7c.577T>A (p.Ser193Thr)
c.613T>A (p.Ser205Thr)
c.637T>A (p.Ser213Thr)
c.406T>A (p.Ser136Thr)
4g.99420782A>CCA440506513ADH7c.576T>G (p.Gly192=)
c.612T>G (p.Gly204=)
c.636T>G (p.Gly212=)
c.405T>G (p.Gly135=)
4g.99420782A>GCA440506514ADH7c.576T>C (p.Gly192=)
c.612T>C (p.Gly204=)
c.636T>C (p.Gly212=)
c.405T>C (p.Gly135=)
4g.99420782A>TCA440506515ADH7c.576T>A (p.Gly192=)
c.612T>A (p.Gly204=)
c.636T>A (p.Gly212=)
c.405T>A (p.Gly135=)
4g.99420783C>ACA3020781ADH7c.575G>T (p.Gly192Val)
c.611G>T (p.Gly204Val)
c.635G>T (p.Gly212Val)
c.404G>T (p.Gly135Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420783C=CA1479994473ADH7c.575G= (p.Gly192=)
c.611G= (p.Gly204=)
c.635G= (p.Gly212=)
c.404G= (p.Gly135=)
4g.99420783C>GCA357497857ADH7c.575G>C (p.Gly192Ala)
c.611G>C (p.Gly204Ala)
c.635G>C (p.Gly212Ala)
c.404G>C (p.Gly135Ala)
4g.99420783C>TCA357497858ADH7c.575G>A (p.Gly192Asp)
c.611G>A (p.Gly204Asp)
c.635G>A (p.Gly212Asp)
c.404G>A (p.Gly135Asp)
gnomAD v4
4g.99420784C>ACA357497859ADH7c.574G>T (p.Gly192Cys)
c.610G>T (p.Gly204Cys)
c.634G>T (p.Gly212Cys)
c.403G>T (p.Gly135Cys)
dbSNP gnomAD v4 COSMIC
4g.99420784C=CA1479994479ADH7c.574G= (p.Gly192=)
c.610G= (p.Gly204=)
c.634G= (p.Gly212=)
c.403G= (p.Gly135=)
4g.99420784C>GCA357497860ADH7c.574G>C (p.Gly192Arg)
c.610G>C (p.Gly204Arg)
c.634G>C (p.Gly212Arg)
c.403G>C (p.Gly135Arg)
dbSNP
4g.99420784C>TCA357497861ADH7c.574G>A (p.Gly192Ser)
c.610G>A (p.Gly204Ser)
c.634G>A (p.Gly212Ser)
c.403G>A (p.Gly135Ser)
4g.99420785A>CCA440506516ADH7c.573T>G (p.Pro191=)
c.609T>G (p.Pro203=)
c.633T>G (p.Pro211=)
c.402T>G (p.Pro134=)
4g.99420785A>GCA440506517ADH7c.573T>C (p.Pro191=)
c.609T>C (p.Pro203=)
c.633T>C (p.Pro211=)
c.402T>C (p.Pro134=)
4g.99420785A>TCA440506518ADH7c.573T>A (p.Pro191=)
c.609T>A (p.Pro203=)
c.633T>A (p.Pro211=)
c.402T>A (p.Pro134=)
4g.99420786G>ACA357497862ADH7c.572C>T (p.Pro191Leu)
c.608C>T (p.Pro203Leu)
c.632C>T (p.Pro211Leu)
c.401C>T (p.Pro134Leu)
COSMIC COSMIC
4g.99420786G>CCA357497863ADH7c.572C>G (p.Pro191Arg)
c.608C>G (p.Pro203Arg)
c.632C>G (p.Pro211Arg)
c.401C>G (p.Pro134Arg)
4g.99420786G>TCA357497864ADH7c.572C>A (p.Pro191His)
c.608C>A (p.Pro203His)
c.632C>A (p.Pro211His)
c.401C>A (p.Pro134His)
4g.99420787G>ACA3020782ADH7c.571C>T (p.Pro191Ser)
c.607C>T (p.Pro203Ser)
c.631C>T (p.Pro211Ser)
c.400C>T (p.Pro134Ser)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.99420787G>CCA357497865ADH7c.571C>G (p.Pro191Ala)
c.607C>G (p.Pro203Ala)
c.631C>G (p.Pro211Ala)
c.400C>G (p.Pro134Ala)
4g.99420787G=CA1479994484ADH7c.571C= (p.Pro191=)
c.607C= (p.Pro203=)
c.631C= (p.Pro211=)
c.400C= (p.Pro134=)
4g.99420787G>TCA3020783ADH7c.571C>A (p.Pro191Thr)
c.607C>A (p.Pro203Thr)
c.631C>A (p.Pro211Thr)
c.400C>A (p.Pro134Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420788T>ACA357497866ADH7c.570A>T (p.Lys190Asn)
c.606A>T (p.Lys202Asn)
c.630A>T (p.Lys210Asn)
c.399A>T (p.Lys133Asn)
gnomAD v4
4g.99420788T>CCA440506519ADH7c.570A>G (p.Lys190=)
c.606A>G (p.Lys202=)
c.630A>G (p.Lys210=)
c.399A>G (p.Lys133=)
dbSNP gnomAD v4
4g.99420788T>GCA357497867ADH7c.570A>C (p.Lys190Asn)
c.606A>C (p.Lys202Asn)
c.630A>C (p.Lys210Asn)
c.399A>C (p.Lys133Asn)
4g.99420788T=CA1479994491ADH7c.570A= (p.Lys190=)
c.606A= (p.Lys202=)
c.630A= (p.Lys210=)
c.399A= (p.Lys133=)
4g.99420789T>ACA357497869ADH7c.569A>T (p.Lys190Ile)
c.605A>T (p.Lys202Ile)
c.629A>T (p.Lys210Ile)
c.398A>T (p.Lys133Ile)
4g.99420789T>CCA357497868ADH7c.569A>G (p.Lys190Arg)
c.605A>G (p.Lys202Arg)
c.629A>G (p.Lys210Arg)
c.398A>G (p.Lys133Arg)
4g.99420789T>GCA3020784ADH7c.569A>C (p.Lys190Thr)
c.605A>C (p.Lys202Thr)
c.629A>C (p.Lys210Thr)
c.398A>C (p.Lys133Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420789T=CA1479994496ADH7c.569A= (p.Lys190=)
c.605A= (p.Lys202=)
c.629A= (p.Lys210=)
c.398A= (p.Lys133=)
4g.99420790T>ACA357497870ADH7c.568A>T (p.Lys190Ter)
c.604A>T (p.Lys202Ter)
c.628A>T (p.Lys210Ter)
c.397A>T (p.Lys133Ter)
4g.99420790T>CCA357497871ADH7c.568A>G (p.Lys190Glu)
c.604A>G (p.Lys202Glu)
c.628A>G (p.Lys210Glu)
c.397A>G (p.Lys133Glu)
4g.99420790T>GCA357497872ADH7c.568A>C (p.Lys190Gln)
c.604A>C (p.Lys202Gln)
c.628A>C (p.Lys210Gln)
c.397A>C (p.Lys133Gln)
4g.99420791G>ACA440506520ADH7c.567C>T (p.Val189=)
c.603C>T (p.Val201=)
c.627C>T (p.Val209=)
c.396C>T (p.Val132=)
4g.99420791G>CCA440506521ADH7c.567C>G (p.Val189=)
c.603C>G (p.Val201=)
c.627C>G (p.Val209=)
c.396C>G (p.Val132=)
4g.99420791G>TCA440506522ADH7c.567C>A (p.Val189=)
c.603C>A (p.Val201=)
c.627C>A (p.Val209=)
c.396C>A (p.Val132=)
4g.99420792A=CA1479994500ADH7c.566T= (p.Val189=)
c.602T= (p.Val201=)
c.626T= (p.Val209=)
c.395T= (p.Val132=)
4g.99420792A>CCA357497873ADH7c.566T>G (p.Val189Gly)
c.602T>G (p.Val201Gly)
c.626T>G (p.Val209Gly)
c.395T>G (p.Val132Gly)
dbSNP
4g.99420792A>GCA357497874ADH7c.566T>C (p.Val189Ala)
c.602T>C (p.Val201Ala)
c.626T>C (p.Val209Ala)
c.395T>C (p.Val132Ala)
4g.99420792A>TCA357497875ADH7c.566T>A (p.Val189Asp)
c.602T>A (p.Val201Asp)
c.626T>A (p.Val209Asp)
c.395T>A (p.Val132Asp)
4g.99420793C>ACA357497876ADH7c.565G>T (p.Val189Phe)
c.601G>T (p.Val201Phe)
c.625G>T (p.Val209Phe)
c.394G>T (p.Val132Phe)
gnomAD v4
4g.99420793C=CA1479994504ADH7c.565G= (p.Val189=)
c.601G= (p.Val201=)
c.625G= (p.Val209=)
c.394G= (p.Val132=)
4g.99420793C>GCA357497877ADH7c.565G>C (p.Val189Leu)
c.601G>C (p.Val201Leu)
c.625G>C (p.Val209Leu)
c.394G>C (p.Val132Leu)
dbSNP gnomAD v4
4g.99420793C>TCA3020785ADH7c.565G>A (p.Val189Ile)
c.601G>A (p.Val201Ile)
c.625G>A (p.Val209Ile)
c.394G>A (p.Val132Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420794C>ACA357497878ADH7c.565-1G>T (n.565-1G>T)
c.601-1G>T (n.601-1G>T)
c.625-1G>T (n.625-1G>T)
c.394-1G>T (n.394-1G>T)
gnomAD v4
4g.99420794C>GCA357497879ADH7c.565-1G>C (n.565-1G>C)
c.601-1G>C (n.601-1G>C)
c.625-1G>C (n.625-1G>C)
c.394-1G>C (n.394-1G>C)
4g.99420794C>TCA357497880ADH7c.565-1G>A (n.565-1G>A)
c.601-1G>A (n.601-1G>A)
c.625-1G>A (n.625-1G>A)
c.394-1G>A (n.394-1G>A)
4g.99420795T>ACA357497882ADH7c.565-2A>T (n.565-2A>T)
c.601-2A>T (n.601-2A>T)
c.625-2A>T (n.625-2A>T)
c.394-2A>T (n.394-2A>T)
4g.99420795T>CCA3020786ADH7c.565-2A>G (n.565-2A>G)
c.601-2A>G (n.601-2A>G)
c.625-2A>G (n.625-2A>G)
c.394-2A>G (n.394-2A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420795T>GCA357497881ADH7c.565-2A>C (n.565-2A>C)
c.601-2A>C (n.601-2A>C)
c.625-2A>C (n.625-2A>C)
c.394-2A>C (n.394-2A>C)
4g.99420795T=CA1479994508ADH7c.565-2A= (n.565-2A=)
c.601-2A= (n.601-2A=)
c.625-2A= (n.625-2A=)
c.394-2A= (n.394-2A=)
4g.99420796G>ACA800742426ADH7c.565-3C>T (n.565-3C>T)
c.601-3C>T (n.601-3C>T)
c.625-3C>T (n.625-3C>T)
c.394-3C>T (n.394-3C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420796G=CA1479994511ADH7c.565-3C= (n.565-3C=)
c.601-3C= (n.601-3C=)
c.625-3C= (n.625-3C=)
c.394-3C= (n.394-3C=)
4g.99420797T>CCA2671525115ADH7c.565-4A>G (n.565-4A>G)
c.601-4A>G (n.601-4A>G)
c.625-4A>G (n.625-4A>G)
c.394-4A>G (n.394-4A>G)
gnomAD v4
4g.99420798G>ACA800742432ADH7c.565-5C>T (n.565-5C>T)
c.601-5C>T (n.601-5C>T)
c.625-5C>T (n.625-5C>T)
c.394-5C>T (n.394-5C>T)
dbSNP gnomAD v3 gnomAD v4
4g.99420798G>CCA800742437ADH7c.565-5C>G (n.565-5C>G)
c.601-5C>G (n.601-5C>G)
c.625-5C>G (n.625-5C>G)
c.394-5C>G (n.394-5C>G)
dbSNP gnomAD v3 gnomAD v4
4g.99420798G=CA1479994513ADH7c.565-5C= (n.565-5C=)
c.601-5C= (n.601-5C=)
c.625-5C= (n.625-5C=)
c.394-5C= (n.394-5C=)
4g.99420798G>TCA2671525116ADH7c.565-5C>A (n.565-5C>A)
c.601-5C>A (n.601-5C>A)
c.625-5C>A (n.625-5C>A)
c.394-5C>A (n.394-5C>A)
gnomAD v4
4g.99420799G>ACA800742438ADH7c.565-6C>T (n.565-6C>T)
c.601-6C>T (n.601-6C>T)
c.625-6C>T (n.625-6C>T)
c.394-6C>T (n.394-6C>T)
dbSNP gnomAD v3 gnomAD v4
4g.99420799G=CA1479994516ADH7c.565-6C= (n.565-6C=)
c.601-6C= (n.601-6C=)
c.625-6C= (n.625-6C=)
c.394-6C= (n.394-6C=)
4g.99420801G>CCA2671525117ADH7c.565-8C>G (n.565-8C>G)
c.601-8C>G (n.601-8C>G)
c.625-8C>G (n.625-8C>G)
c.394-8C>G (n.394-8C>G)
gnomAD v4

Number of alleles fetched