Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.150733117A=CA2479286203CTSSc.925T= (p.Tyr309=)
c.697T= (p.Tyr233=)
c.*119T= (n.*119T=)
c.822T= (p.Asp274=)
c.652T= (p.Tyr218=)
c.775T= (p.Tyr259=)
c.*8T= (n.*8T=)
c.*96T= (n.*96T=)
c.748T= (p.Tyr250=)
c.*275T= (n.*275T=)
n.315T=
c.218T=
c.473T= (n.473T=)
1g.150733117A>CCA342322447CTSSc.925T>G (p.Tyr309Asp)
c.697T>G (p.Tyr233Asp)
c.*119T>G (n.*119T>G)
c.822T>G (p.Asp274Glu)
c.652T>G (p.Tyr218Asp)
c.775T>G (p.Tyr259Asp)
c.*8T>G (n.*8T>G)
c.*96T>G (n.*96T>G)
c.748T>G (p.Tyr250Asp)
c.*275T>G (n.*275T>G)
n.315T>G
c.218T>G
c.473T>G (n.473T>G)
1g.150733117A>GCA1080162CTSSc.925T>C (p.Tyr309His)
c.697T>C (p.Tyr233His)
c.*119T>C (n.*119T>C)
c.822T>C (p.Asp274=)
c.652T>C (p.Tyr218His)
c.775T>C (p.Tyr259His)
c.*8T>C (n.*8T>C)
c.*96T>C (n.*96T>C)
c.748T>C (p.Tyr250His)
c.*275T>C (n.*275T>C)
n.315T>C
c.218T>C
c.473T>C (n.473T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.150733117A>TCA342322448CTSSc.925T>A (p.Tyr309Asn)
c.697T>A (p.Tyr233Asn)
c.*119T>A (n.*119T>A)
c.822T>A (p.Asp274Glu)
c.652T>A (p.Tyr218Asn)
c.775T>A (p.Tyr259Asn)
c.*8T>A (n.*8T>A)
c.*96T>A (n.*96T>A)
c.748T>A (p.Tyr250Asn)
c.*275T>A (n.*275T>A)
n.315T>A
c.218T>A
c.473T>A (n.473T>A)
1g.150733118T>ACA420696580CTSSc.924A>T (p.Gly308=)
c.696A>T (p.Gly232=)
c.*118A>T (n.*118A>T)
c.821A>T (p.Asp274Val)
c.651A>T (p.Gly217=)
c.774A>T (p.Gly258=)
c.*7A>T (n.*7A>T)
c.*95A>T (n.*95A>T)
c.747A>T (p.Gly249=)
c.*274A>T (n.*274A>T)
n.314A>T
c.217A>T
c.472A>T (n.472A>T)
1g.150733118T>CCA420696581CTSSc.924A>G (p.Gly308=)
c.696A>G (p.Gly232=)
c.*118A>G (n.*118A>G)
c.821A>G (p.Asp274Gly)
c.651A>G (p.Gly217=)
c.774A>G (p.Gly258=)
c.*7A>G (n.*7A>G)
c.*95A>G (n.*95A>G)
c.747A>G (p.Gly249=)
c.*274A>G (n.*274A>G)
n.314A>G
c.217A>G
c.472A>G (n.472A>G)
1g.150733118T>GCA420696582CTSSc.924A>C (p.Gly308=)
c.696A>C (p.Gly232=)
c.*118A>C (n.*118A>C)
c.821A>C (p.Asp274Ala)
c.651A>C (p.Gly217=)
c.774A>C (p.Gly258=)
c.*7A>C (n.*7A>C)
c.*95A>C (n.*95A>C)
c.747A>C (p.Gly249=)
c.*274A>C (n.*274A>C)
n.314A>C
c.217A>C
c.472A>C (n.472A>C)
1g.150733119C>ACA342322449CTSSc.923G>T (p.Gly308Val)
c.695G>T (p.Gly232Val)
c.*117G>T (n.*117G>T)
c.820G>T (p.Asp274Tyr)
c.650G>T (p.Gly217Val)
c.773G>T (p.Gly258Val)
c.*6G>T (n.*6G>T)
c.*94G>T (n.*94G>T)
c.746G>T (p.Gly249Val)
c.*273G>T (n.*273G>T)
n.313G>T
c.216G>T
c.471G>T (n.471G>T)
1g.150733119C>GCA342322451CTSSc.923G>C (p.Gly308Ala)
c.695G>C (p.Gly232Ala)
c.*117G>C (n.*117G>C)
c.820G>C (p.Asp274His)
c.650G>C (p.Gly217Ala)
c.773G>C (p.Gly258Ala)
c.*6G>C (n.*6G>C)
c.*94G>C (n.*94G>C)
c.746G>C (p.Gly249Ala)
c.*273G>C (n.*273G>C)
n.313G>C
c.216G>C
c.471G>C (n.471G>C)
1g.150733119C>TCA342322450CTSSc.923G>A (p.Gly308Glu)
c.695G>A (p.Gly232Glu)
c.*117G>A (n.*117G>A)
c.820G>A (p.Asp274Asn)
c.650G>A (p.Gly217Glu)
c.773G>A (p.Gly258Glu)
c.*6G>A (n.*6G>A)
c.*94G>A (n.*94G>A)
c.746G>A (p.Gly249Glu)
c.*273G>A (n.*273G>A)
n.313G>A
c.216G>A
c.471G>A (n.471G>A)
1g.150733120C>ACA342322452CTSSc.922G>T (p.Gly308Ter)
c.694G>T (p.Gly232Ter)
c.*116G>T (n.*116G>T)
c.819G>T (p.Lys273Asn)
c.649G>T (p.Gly217Ter)
c.772G>T (p.Gly258Ter)
c.*5G>T (n.*5G>T)
c.*93G>T (n.*93G>T)
c.745G>T (p.Gly249Ter)
c.*272G>T (n.*272G>T)
n.312G>T
c.215G>T
c.470G>T (n.470G>T)
1g.150733120C>GCA342322453CTSSc.922G>C (p.Gly308Arg)
c.694G>C (p.Gly232Arg)
c.*116G>C (n.*116G>C)
c.819G>C (p.Lys273Asn)
c.649G>C (p.Gly217Arg)
c.772G>C (p.Gly258Arg)
c.*5G>C (n.*5G>C)
c.*93G>C (n.*93G>C)
c.745G>C (p.Gly249Arg)
c.*272G>C (n.*272G>C)
n.312G>C
c.215G>C
c.470G>C (n.470G>C)
1g.150733120C>TCA342322454CTSSc.922G>A (p.Gly308Arg)
c.694G>A (p.Gly232Arg)
c.*116G>A (n.*116G>A)
c.819G>A (p.Lys273=)
c.649G>A (p.Gly217Arg)
c.772G>A (p.Gly258Arg)
c.*5G>A (n.*5G>A)
c.*93G>A (n.*93G>A)
c.745G>A (p.Gly249Arg)
c.*272G>A (n.*272G>A)
n.312G>A
c.215G>A
c.470G>A (n.470G>A)
1g.150733121T>ACA342322455CTSSc.921A>T (p.Glu307Asp)
c.693A>T (p.Glu231Asp)
c.*115A>T (n.*115A>T)
c.818A>T (p.Lys273Met)
c.648A>T (p.Glu216Asp)
c.771A>T (p.Glu257Asp)
c.*4A>T (n.*4A>T)
c.*92A>T (n.*92A>T)
c.744A>T (p.Glu248Asp)
c.*271A>T (n.*271A>T)
n.311A>T
c.214A>T
c.469A>T (n.469A>T)
 COSMIC
1g.150733121T>CCA420696583CTSSc.921A>G (p.Glu307=)
c.693A>G (p.Glu231=)
c.*115A>G (n.*115A>G)
c.818A>G (p.Lys273Arg)
c.648A>G (p.Glu216=)
c.771A>G (p.Glu257=)
c.*4A>G (n.*4A>G)
c.*92A>G (n.*92A>G)
c.744A>G (p.Glu248=)
c.*271A>G (n.*271A>G)
n.311A>G
c.214A>G
c.469A>G (n.469A>G)
1g.150733121T>GCA342322456CTSSc.921A>C (p.Glu307Asp)
c.693A>C (p.Glu231Asp)
c.*115A>C (n.*115A>C)
c.818A>C (p.Lys273Thr)
c.648A>C (p.Glu216Asp)
c.771A>C (p.Glu257Asp)
c.*4A>C (n.*4A>C)
c.*92A>C (n.*92A>C)
c.744A>C (p.Glu248Asp)
c.*271A>C (n.*271A>C)
n.311A>C
c.214A>C
c.469A>C (n.469A>C)
1g.150733122T>ACA342322457CTSSc.920A>T (p.Glu307Val)
c.692A>T (p.Glu231Val)
c.*114A>T (n.*114A>T)
c.817A>T (p.Lys273Ter)
c.647A>T (p.Glu216Val)
c.770A>T (p.Glu257Val)
c.*3A>T (n.*3A>T)
c.*91A>T (n.*91A>T)
c.743A>T (p.Glu248Val)
c.*270A>T (n.*270A>T)
n.310A>T
c.213A>T
c.468A>T (n.468A>T)
1g.150733122T>CCA342322458CTSSc.920A>G (p.Glu307Gly)
c.692A>G (p.Glu231Gly)
c.*114A>G (n.*114A>G)
c.817A>G (p.Lys273Glu)
c.647A>G (p.Glu216Gly)
c.770A>G (p.Glu257Gly)
c.*3A>G (n.*3A>G)
c.*91A>G (n.*91A>G)
c.743A>G (p.Glu248Gly)
c.*270A>G (n.*270A>G)
n.310A>G
c.213A>G
c.468A>G (n.468A>G)
1g.150733122T>GCA342322459CTSSc.920A>C (p.Glu307Ala)
c.692A>C (p.Glu231Ala)
c.*114A>C (n.*114A>C)
c.817A>C (p.Lys273Gln)
c.647A>C (p.Glu216Ala)
c.770A>C (p.Glu257Ala)
c.*3A>C (n.*3A>C)
c.*91A>C (n.*91A>C)
c.743A>C (p.Glu248Ala)
c.*270A>C (n.*270A>C)
n.310A>C
c.213A>C
c.468A>C (n.468A>C)
1g.150733123C>ACA342322460CTSSc.919G>T (p.Glu307Ter)
c.691G>T (p.Glu231Ter)
c.*113G>T (n.*113G>T)
c.816G>T (p.Lys272Asn)
c.646G>T (p.Glu216Ter)
c.769G>T (p.Glu257Ter)
c.*2G>T (n.*2G>T)
c.*90G>T (n.*90G>T)
c.742G>T (p.Glu248Ter)
c.*269G>T (n.*269G>T)
n.309G>T
c.212G>T
c.467G>T (n.467G>T)
1g.150733123C>GCA342322461CTSSc.919G>C (p.Glu307Gln)
c.691G>C (p.Glu231Gln)
c.*113G>C (n.*113G>C)
c.816G>C (p.Lys272Asn)
c.646G>C (p.Glu216Gln)
c.769G>C (p.Glu257Gln)
c.*2G>C (n.*2G>C)
c.*90G>C (n.*90G>C)
c.742G>C (p.Glu248Gln)
c.*269G>C (n.*269G>C)
n.309G>C
c.212G>C
c.467G>C (n.467G>C)
 COSMIC
1g.150733123C>TCA342322462CTSSc.919G>A (p.Glu307Lys)
c.691G>A (p.Glu231Lys)
c.*113G>A (n.*113G>A)
c.816G>A (p.Lys272=)
c.646G>A (p.Glu216Lys)
c.769G>A (p.Glu257Lys)
c.*2G>A (n.*2G>A)
c.*90G>A (n.*90G>A)
c.742G>A (p.Glu248Lys)
c.*269G>A (n.*269G>A)
n.309G>A
c.212G>A
c.467G>A (n.467G>A)
1g.150733124T>ACA342322463CTSSc.918A>T (p.Glu306Asp)
c.690A>T (p.Glu230Asp)
c.*112A>T (n.*112A>T)
c.815A>T (p.Lys272Met)
c.645A>T (p.Glu215Asp)
c.768A>T (p.Glu256Asp)
c.*1A>T (n.*1A>T)
c.*89A>T (n.*89A>T)
c.741A>T (p.Glu247Asp)
c.*268A>T (n.*268A>T)
n.308A>T
c.211A>T
c.466A>T (n.466A>T)
1g.150733124T>CCA420696584CTSSc.918A>G (p.Glu306=)
c.690A>G (p.Glu230=)
c.*112A>G (n.*112A>G)
c.815A>G (p.Lys272Arg)
c.645A>G (p.Glu215=)
c.768A>G (p.Glu256=)
c.*1A>G (n.*1A>G)
c.*89A>G (n.*89A>G)
c.741A>G (p.Glu247=)
c.*268A>G (n.*268A>G)
n.308A>G
c.211A>G
c.466A>G (n.466A>G)
1g.150733124T>GCA342322464CTSSc.918A>C (p.Glu306Asp)
c.690A>C (p.Glu230Asp)
c.*112A>C (n.*112A>C)
c.815A>C (p.Lys272Thr)
c.645A>C (p.Glu215Asp)
c.768A>C (p.Glu256Asp)
c.*1A>C (n.*1A>C)
c.*89A>C (n.*89A>C)
c.741A>C (p.Glu247Asp)
c.*268A>C (n.*268A>C)
n.308A>C
c.211A>C
c.466A>C (n.466A>C)
1g.150733125T>ACA342322465CTSSc.917A>T (p.Glu306Val)
c.689A>T (p.Glu230Val)
c.*111A>T (n.*111A>T)
c.814A>T (p.Lys272Ter)
c.644A>T (p.Glu215Val)
c.767A>T (p.Glu256Val)
c.648A>T (p.Ter216Cys)
c.*88A>T (n.*88A>T)
c.740A>T (p.Glu247Val)
c.*267A>T (n.*267A>T)
n.307A>T
c.210A>T
c.465A>T (n.465A>T)
1g.150733125T>CCA342322467CTSSc.917A>G (p.Glu306Gly)
c.689A>G (p.Glu230Gly)
c.*111A>G (n.*111A>G)
c.814A>G (p.Lys272Glu)
c.644A>G (p.Glu215Gly)
c.767A>G (p.Glu256Gly)
c.648A>G (p.Ter216Trp)
c.*88A>G (n.*88A>G)
c.740A>G (p.Glu247Gly)
c.*267A>G (n.*267A>G)
n.307A>G
c.210A>G
c.465A>G (n.465A>G)
1g.150733125T>GCA342322466CTSSc.917A>C (p.Glu306Ala)
c.689A>C (p.Glu230Ala)
c.*111A>C (n.*111A>C)
c.814A>C (p.Lys272Gln)
c.644A>C (p.Glu215Ala)
c.767A>C (p.Glu256Ala)
c.648A>C (p.Ter216Cys)
c.*88A>C (n.*88A>C)
c.740A>C (p.Glu247Ala)
c.*267A>C (n.*267A>C)
n.307A>C
c.210A>C
c.465A>C (n.465A>C)
 gnomAD v4
1g.150733126C>ACA342322468CTSSc.916G>T (p.Glu306Ter)
c.688G>T (p.Glu230Ter)
c.*110G>T (n.*110G>T)
c.813G>T (p.Val271=)
c.643G>T (p.Glu215Ter)
c.766G>T (p.Glu256Ter)
c.647G>T (p.Ter216Leu)
c.*87G>T (n.*87G>T)
c.739G>T (p.Glu247Ter)
c.*266G>T (n.*266G>T)
n.306G>T
c.209G>T
c.464G>T (n.464G>T)
1g.150733126C=CA2479286204CTSSc.916G= (p.Glu306=)
c.688G= (p.Glu230=)
c.*110G= (n.*110G=)
c.813G= (p.Val271=)
c.643G= (p.Glu215=)
c.766G= (p.Glu256=)
c.647G= (p.Ter216=)
c.*87G= (n.*87G=)
c.739G= (p.Glu247=)
c.*266G= (n.*266G=)
n.306G=
c.209G=
c.464G= (n.464G=)
1g.150733126C>GCA342322469CTSSc.916G>C (p.Glu306Gln)
c.688G>C (p.Glu230Gln)
c.*110G>C (n.*110G>C)
c.813G>C (p.Val271=)
c.643G>C (p.Glu215Gln)
c.766G>C (p.Glu256Gln)
c.647G>C (p.Ter216Ser)
c.*87G>C (n.*87G>C)
c.739G>C (p.Glu247Gln)
c.*266G>C (n.*266G>C)
n.306G>C
c.209G>C
c.464G>C (n.464G>C)
1g.150733126C>TCA342322470CTSSc.916G>A (p.Glu306Lys)
c.688G>A (p.Glu230Lys)
c.*110G>A (n.*110G>A)
c.813G>A (p.Val271=)
c.643G>A (p.Glu215Lys)
c.766G>A (p.Glu256Lys)
c.647G>A (p.Ter216=)
c.*87G>A (n.*87G>A)
c.739G>A (p.Glu247Lys)
c.*266G>A (n.*266G>A)
n.306G>A
c.209G>A
c.464G>A (n.464G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.150733127A>CCA420696585CTSSc.915T>G (p.Gly305=)
c.687T>G (p.Gly229=)
c.*109T>G (n.*109T>G)
c.812T>G (p.Val271Gly)
c.642T>G (p.Gly214=)
c.765T>G (p.Gly255=)
c.646T>G (p.Ter216Gly)
c.*86T>G (n.*86T>G)
c.738T>G (p.Gly246=)
c.*265T>G (n.*265T>G)
n.305T>G
c.208T>G
c.463T>G (n.463T>G)
1g.150733127A>GCA420696586CTSSc.915T>C (p.Gly305=)
c.687T>C (p.Gly229=)
c.*109T>C (n.*109T>C)
c.812T>C (p.Val271Ala)
c.642T>C (p.Gly214=)
c.765T>C (p.Gly255=)
c.646T>C (p.Ter216Arg)
c.*86T>C (n.*86T>C)
c.738T>C (p.Gly246=)
c.*265T>C (n.*265T>C)
n.305T>C
c.208T>C
c.463T>C (n.463T>C)
1g.150733127A>TCA420696587CTSSc.915T>A (p.Gly305=)
c.687T>A (p.Gly229=)
c.*109T>A (n.*109T>A)
c.812T>A (p.Val271Glu)
c.642T>A (p.Gly214=)
c.765T>A (p.Gly255=)
c.646T>A (p.Ter216Arg)
c.*86T>A (n.*86T>A)
c.738T>A (p.Gly246=)
c.*265T>A (n.*265T>A)
n.305T>A
c.208T>A
c.463T>A (n.463T>A)
1g.150733128C>ACA342322471CTSSc.914G>T (p.Gly305Val)
c.686G>T (p.Gly229Val)
c.*108G>T (n.*108G>T)
c.811G>T (p.Val271Leu)
c.641G>T (p.Gly214Val)
c.764G>T (p.Gly255Val)
c.645G>T (p.Trp215Cys)
c.*85G>T (n.*85G>T)
c.737G>T (p.Gly246Val)
c.*264G>T (n.*264G>T)
n.304G>T
c.207G>T
c.462G>T (n.462G>T)
1g.150733128C>GCA342322472CTSSc.914G>C (p.Gly305Ala)
c.686G>C (p.Gly229Ala)
c.*108G>C (n.*108G>C)
c.811G>C (p.Val271Leu)
c.641G>C (p.Gly214Ala)
c.764G>C (p.Gly255Ala)
c.645G>C (p.Trp215Cys)
c.*85G>C (n.*85G>C)
c.737G>C (p.Gly246Ala)
c.*264G>C (n.*264G>C)
n.304G>C
c.207G>C
c.462G>C (n.462G>C)
1g.150733128C>TCA342322473CTSSc.914G>A (p.Gly305Asp)
c.686G>A (p.Gly229Asp)
c.*108G>A (n.*108G>A)
c.811G>A (p.Val271Met)
c.641G>A (p.Gly214Asp)
c.764G>A (p.Gly255Asp)
c.645G>A (p.Trp215Ter)
c.*85G>A (n.*85G>A)
c.737G>A (p.Gly246Asp)
c.*264G>A (n.*264G>A)
n.304G>A
c.207G>A
c.462G>A (n.462G>A)
1g.150733129C>ACA342322474CTSSc.913G>T (p.Gly305Cys)
c.685G>T (p.Gly229Cys)
c.*107G>T (n.*107G>T)
c.810G>T (p.Leu270Phe)
c.640G>T (p.Gly214Cys)
c.763G>T (p.Gly255Cys)
c.644G>T (p.Trp215Leu)
c.*84G>T (n.*84G>T)
c.736G>T (p.Gly246Cys)
c.*263G>T (n.*263G>T)
n.303G>T
c.206G>T
c.461G>T (n.461G>T)
1g.150733129C>GCA342322475CTSSc.913G>C (p.Gly305Arg)
c.685G>C (p.Gly229Arg)
c.*107G>C (n.*107G>C)
c.810G>C (p.Leu270Phe)
c.640G>C (p.Gly214Arg)
c.763G>C (p.Gly255Arg)
c.644G>C (p.Trp215Ser)
c.*84G>C (n.*84G>C)
c.736G>C (p.Gly246Arg)
c.*263G>C (n.*263G>C)
n.303G>C
c.206G>C
c.461G>C (n.461G>C)
1g.150733129C>TCA342322476CTSSc.913G>A (p.Gly305Ser)
c.685G>A (p.Gly229Ser)
c.*107G>A (n.*107G>A)
c.810G>A (p.Leu270=)
c.640G>A (p.Gly214Ser)
c.763G>A (p.Gly255Ser)
c.644G>A (p.Trp215Ter)
c.*84G>A (n.*84G>A)
c.736G>A (p.Gly246Ser)
c.*263G>A (n.*263G>A)
n.303G>A
c.206G>A
c.461G>A (n.461G>A)
1g.150733130A=CA1143464346CTSSc.912T= (p.Phe304=)
c.684T= (p.Phe228=)
c.*106T= (n.*106T=)
c.809T= (p.Leu270=)
c.639T= (p.Phe213=)
c.762T= (p.Phe254=)
c.643T= (p.Trp215=)
c.*83T= (n.*83T=)
c.735T= (p.Phe245=)
c.*262T= (n.*262T=)
n.302T=
c.205T=
c.460T= (n.460T=)
1g.150733130A>CCA342322478CTSSc.912T>G (p.Phe304Leu)
c.684T>G (p.Phe228Leu)
c.*106T>G (n.*106T>G)
c.809T>G (p.Leu270Trp)
c.639T>G (p.Phe213Leu)
c.762T>G (p.Phe254Leu)
c.643T>G (p.Trp215Gly)
c.*83T>G (n.*83T>G)
c.735T>G (p.Phe245Leu)
c.*262T>G (n.*262T>G)
n.302T>G
c.205T>G
c.460T>G (n.460T>G)
1g.150733130A>GCA30095088CTSSc.912T>C (p.Phe304=)
c.684T>C (p.Phe228=)
c.*106T>C (n.*106T>C)
c.809T>C (p.Leu270Ser)
c.639T>C (p.Phe213=)
c.762T>C (p.Phe254=)
c.643T>C (p.Trp215Arg)
c.*83T>C (n.*83T>C)
c.735T>C (p.Phe245=)
c.*262T>C (n.*262T>C)
n.302T>C
c.205T>C
c.460T>C (n.460T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.150733130A>TCA342322477CTSSc.912T>A (p.Phe304Leu)
c.684T>A (p.Phe228Leu)
c.*106T>A (n.*106T>A)
c.809T>A (p.Leu270Ter)
c.639T>A (p.Phe213Leu)
c.762T>A (p.Phe254Leu)
c.643T>A (p.Trp215Arg)
c.*83T>A (n.*83T>A)
c.735T>A (p.Phe245Leu)
c.*262T>A (n.*262T>A)
n.302T>A
c.205T>A
c.460T>A (n.460T>A)
1g.150733131A>CCA342322479CTSSc.911T>G (p.Phe304Cys)
c.683T>G (p.Phe228Cys)
c.*105T>G (n.*105T>G)
c.808T>G (p.Leu270Val)
c.638T>G (p.Phe213Cys)
c.761T>G (p.Phe254Cys)
c.642T>G (p.Leu214=)
c.*82T>G (n.*82T>G)
c.734T>G (p.Phe245Cys)
c.*261T>G (n.*261T>G)
n.301T>G
c.204T>G
c.459T>G (n.459T>G)
1g.150733131A>GCA342322480CTSSc.911T>C (p.Phe304Ser)
c.683T>C (p.Phe228Ser)
c.*105T>C (n.*105T>C)
c.808T>C (p.Leu270=)
c.638T>C (p.Phe213Ser)
c.761T>C (p.Phe254Ser)
c.642T>C (p.Leu214=)
c.*82T>C (n.*82T>C)
c.734T>C (p.Phe245Ser)
c.*261T>C (n.*261T>C)
n.301T>C
c.204T>C
c.459T>C (n.459T>C)
1g.150733131A>TCA342322481CTSSc.911T>A (p.Phe304Tyr)
c.683T>A (p.Phe228Tyr)
c.*105T>A (n.*105T>A)
c.808T>A (p.Leu270Met)
c.638T>A (p.Phe213Tyr)
c.761T>A (p.Phe254Tyr)
c.642T>A (p.Leu214=)
c.*82T>A (n.*82T>A)
c.734T>A (p.Phe245Tyr)
c.*261T>A (n.*261T>A)
n.301T>A
c.204T>A
c.459T>A (n.459T>A)
1g.150733132A>CCA342322482CTSSc.910T>G (p.Phe304Val)
c.682T>G (p.Phe228Val)
c.*104T>G (n.*104T>G)
c.807T>G (p.Thr269=)
c.637T>G (p.Phe213Val)
c.760T>G (p.Phe254Val)
c.641T>G (p.Leu214Arg)
c.*81T>G (n.*81T>G)
c.733T>G (p.Phe245Val)
c.*260T>G (n.*260T>G)
n.300T>G
c.203T>G
c.458T>G (n.458T>G)
1g.150733132A>GCA342322483CTSSc.910T>C (p.Phe304Leu)
c.682T>C (p.Phe228Leu)
c.*104T>C (n.*104T>C)
c.807T>C (p.Thr269=)
c.637T>C (p.Phe213Leu)
c.760T>C (p.Phe254Leu)
c.641T>C (p.Leu214Pro)
c.*81T>C (n.*81T>C)
c.733T>C (p.Phe245Leu)
c.*260T>C (n.*260T>C)
n.300T>C
c.203T>C
c.458T>C (n.458T>C)
 gnomAD v4

Number of alleles fetched