Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122275859G>ACA435424811CASRc.1378-6254G>A (n.1378-6254G>A)
c.1425G>A (p.Glu475=)
c.942G>A (p.Glu314=)
c.837G>A (p.Glu279=)
 ClinVar dbSNP gnomAD v4
3g.122275859G>CCA354154962CASRc.1378-6254G>C (n.1378-6254G>C)
c.1425G>C (p.Glu475Asp)
c.942G>C (p.Glu314Asp)
c.837G>C (p.Glu279Asp)
 COSMIC
3g.122275859G>TCA354154965CASRc.1378-6254G>T (n.1378-6254G>T)
c.1425G>T (p.Glu475Asp)
c.942G>T (p.Glu314Asp)
c.837G>T (p.Glu279Asp)
 ClinVar dbSNP
3g.122275860C>ACA354154967CASRc.1378-6253C>A (n.1378-6253C>A)
c.1426C>A (p.Gln476Lys)
c.943C>A (p.Gln315Lys)
c.838C>A (p.Gln280Lys)
 ClinVar gnomAD v4
3g.122275860C>GCA354154968CASRc.1378-6253C>G (n.1378-6253C>G)
c.1426C>G (p.Gln476Glu)
c.943C>G (p.Gln315Glu)
c.838C>G (p.Gln280Glu)
 ClinVar gnomAD v4
3g.122275860C>TCA354154970CASRc.1378-6253C>T (n.1378-6253C>T)
c.1426C>T (p.Gln476Ter)
c.943C>T (p.Gln315Ter)
c.838C>T (p.Gln280Ter)
3g.122275861A=CA1397883108CASRc.1378-6252A= (n.1378-6252A=)
c.1427A= (p.Gln476=)
c.944A= (p.Gln315=)
c.839A= (p.Gln280=)
3g.122275861A>CCA354154972CASRc.1378-6252A>C (n.1378-6252A>C)
c.1427A>C (p.Gln476Pro)
c.944A>C (p.Gln315Pro)
c.839A>C (p.Gln280Pro)
3g.122275861A>GCA2569656CASRc.1378-6252A>G (n.1378-6252A>G)
c.1427A>G (p.Gln476Arg)
c.944A>G (p.Gln315Arg)
c.839A>G (p.Gln280Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122275861A>TCA354154974CASRc.1378-6252A>T (n.1378-6252A>T)
c.1427A>T (p.Gln476Leu)
c.944A>T (p.Gln315Leu)
c.839A>T (p.Gln280Leu)
3g.122275862G>ACA435424821CASRc.1378-6251G>A (n.1378-6251G>A)
c.1428G>A (p.Gln476=)
c.945G>A (p.Gln315=)
c.840G>A (p.Gln280=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122275862G>CCA354154976CASRc.1378-6251G>C (n.1378-6251G>C)
c.1428G>C (p.Gln476His)
c.945G>C (p.Gln315His)
c.840G>C (p.Gln280His)
3g.122275862G=CA1397883109CASRc.1378-6251G= (n.1378-6251G=)
c.1428G= (p.Gln476=)
c.945G= (p.Gln315=)
c.840G= (p.Gln280=)
3g.122275862G>TCA354154978CASRc.1378-6251G>T (n.1378-6251G>T)
c.1428G>T (p.Gln476His)
c.945G>T (p.Gln315His)
c.840G>T (p.Gln280His)
3g.122275863G>ACA354154980CASRc.1378-6250G>A (n.1378-6250G>A)
c.1429G>A (p.Val477Met)
c.946G>A (p.Val316Met)
c.841G>A (p.Val281Met)
 ClinVar dbSNP
3g.122275863G>CCA354154981CASRc.1378-6250G>C (n.1378-6250G>C)
c.1429G>C (p.Val477Leu)
c.946G>C (p.Val316Leu)
c.841G>C (p.Val281Leu)
3g.122275863G=CA1397883110CASRc.1378-6250G= (n.1378-6250G=)
c.1429G= (p.Val477=)
c.946G= (p.Val316=)
c.841G= (p.Val281=)
3g.122275863G>TCA354154983CASRc.1378-6250G>T (n.1378-6250G>T)
c.1429G>T (p.Val477Leu)
c.946G>T (p.Val316Leu)
c.841G>T (p.Val281Leu)
3g.122275864T>ACA354154987CASRc.1378-6249T>A (n.1378-6249T>A)
c.1430T>A (p.Val477Glu)
c.947T>A (p.Val316Glu)
c.842T>A (p.Val281Glu)
3g.122275864T>CCA2569657CASRc.1378-6249T>C (n.1378-6249T>C)
c.1430T>C (p.Val477Ala)
c.947T>C (p.Val316Ala)
c.842T>C (p.Val281Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122275864T>GCA354154985CASRc.1378-6249T>G (n.1378-6249T>G)
c.1430T>G (p.Val477Gly)
c.947T>G (p.Val316Gly)
c.842T>G (p.Val281Gly)
3g.122275864T=CA1397883111CASRc.1378-6249T= (n.1378-6249T=)
c.1430T= (p.Val477=)
c.947T= (p.Val316=)
c.842T= (p.Val281=)
3g.122275865G>ACA435424828CASRc.1378-6248G>A (n.1378-6248G>A)
c.1431G>A (p.Val477=)
c.948G>A (p.Val316=)
c.843G>A (p.Val281=)
3g.122275865G>CCA435424827CASRc.1378-6248G>C (n.1378-6248G>C)
c.1431G>C (p.Val477=)
c.948G>C (p.Val316=)
c.843G>C (p.Val281=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122275865G=CA1397883112CASRc.1378-6248G= (n.1378-6248G=)
c.1431G= (p.Val477=)
c.948G= (p.Val316=)
c.843G= (p.Val281=)
3g.122275865G>TCA435424826CASRc.1378-6248G>T (n.1378-6248G>T)
c.1431G>T (p.Val477=)
c.948G>T (p.Val316=)
c.843G>T (p.Val281=)
3g.122275866A>CCA354154989CASRc.1378-6247A>C (n.1378-6247A>C)
c.1432A>C (p.Thr478Pro)
c.949A>C (p.Thr317Pro)
c.844A>C (p.Thr282Pro)
3g.122275866A>GCA354154990CASRc.1378-6247A>G (n.1378-6247A>G)
c.1432A>G (p.Thr478Ala)
c.949A>G (p.Thr317Ala)
c.844A>G (p.Thr282Ala)
 gnomAD v4
3g.122275866A>TCA354154991CASRc.1378-6247A>T (n.1378-6247A>T)
c.1432A>T (p.Thr478Ser)
c.949A>T (p.Thr317Ser)
c.844A>T (p.Thr282Ser)
3g.122275867C>ACA354154994CASRc.1378-6246C>A (n.1378-6246C>A)
c.1433C>A (p.Thr478Asn)
c.950C>A (p.Thr317Asn)
c.845C>A (p.Thr282Asn)
3g.122275867C>GCA354154996CASRc.1378-6246C>G (n.1378-6246C>G)
c.1433C>G (p.Thr478Ser)
c.950C>G (p.Thr317Ser)
c.845C>G (p.Thr282Ser)
3g.122275867C>TCA354154997CASRc.1378-6246C>T (n.1378-6246C>T)
c.1433C>T (p.Thr478Ile)
c.950C>T (p.Thr317Ile)
c.845C>T (p.Thr282Ile)
 gnomAD v4
3g.122275868C>ACA435424835CASRc.1378-6245C>A (n.1378-6245C>A)
c.1434C>A (p.Thr478=)
c.951C>A (p.Thr317=)
c.846C>A (p.Thr282=)
 dbSNP
3g.122275868C=CA1397883113CASRc.1378-6245C= (n.1378-6245C=)
c.1434C= (p.Thr478=)
c.951C= (p.Thr317=)
c.846C= (p.Thr282=)
3g.122275868C>GCA435424836CASRc.1378-6245C>G (n.1378-6245C>G)
c.1434C>G (p.Thr478=)
c.951C>G (p.Thr317=)
c.846C>G (p.Thr282=)
3g.122275868C>TCA435424837CASRc.1378-6245C>T (n.1378-6245C>T)
c.1434C>T (p.Thr478=)
c.951C>T (p.Thr317=)
c.846C>T (p.Thr282=)
3g.122275869T>ACA354154999CASRc.1378-6244T>A (n.1378-6244T>A)
c.1435T>A (p.Phe479Ile)
c.952T>A (p.Phe318Ile)
c.847T>A (p.Phe283Ile)
3g.122275869T>CCA82745923CASRc.1378-6244T>C (n.1378-6244T>C)
c.1435T>C (p.Phe479Leu)
c.952T>C (p.Phe318Leu)
c.847T>C (p.Phe283Leu)
 dbSNP
3g.122275869T>GCA354155003CASRc.1378-6244T>G (n.1378-6244T>G)
c.1435T>G (p.Phe479Val)
c.952T>G (p.Phe318Val)
c.847T>G (p.Phe283Val)
3g.122275869T=CA1397883114CASRc.1378-6244T= (n.1378-6244T=)
c.1435T= (p.Phe479=)
c.952T= (p.Phe318=)
c.847T= (p.Phe283=)
3g.122275870T>ACA354155005CASRc.1378-6243T>A (n.1378-6243T>A)
c.1436T>A (p.Phe479Tyr)
c.953T>A (p.Phe318Tyr)
c.848T>A (p.Phe283Tyr)
3g.122275870T>CCA354155008CASRc.1378-6243T>C (n.1378-6243T>C)
c.1436T>C (p.Phe479Ser)
c.953T>C (p.Phe318Ser)
c.848T>C (p.Phe283Ser)
3g.122275870T>GCA354155010CASRc.1378-6243T>G (n.1378-6243T>G)
c.1436T>G (p.Phe479Cys)
c.953T>G (p.Phe318Cys)
c.848T>G (p.Phe283Cys)
3g.122275871T>ACA354155014CASRc.1378-6242T>A (n.1378-6242T>A)
c.1437T>A (p.Phe479Leu)
c.954T>A (p.Phe318Leu)
c.849T>A (p.Phe283Leu)
3g.122275871T>CCA2569658CASRc.1378-6242T>C (n.1378-6242T>C)
c.1437T>C (p.Phe479=)
c.954T>C (p.Phe318=)
c.849T>C (p.Phe283=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122275871T>GCA354155012CASRc.1378-6242T>G (n.1378-6242T>G)
c.1437T>G (p.Phe479Leu)
c.954T>G (p.Phe318Leu)
c.849T>G (p.Phe283Leu)
3g.122275871T=CA1397883115CASRc.1378-6242T= (n.1378-6242T=)
c.1437T= (p.Phe479=)
c.954T= (p.Phe318=)
c.849T= (p.Phe283=)
3g.122275872G>ACA354155019CASRc.1378-6241G>A (n.1378-6241G>A)
c.1438G>A (p.Asp480Asn)
c.955G>A (p.Asp319Asn)
c.850G>A (p.Asp284Asn)
3g.122275872G>CCA354155018CASRc.1378-6241G>C (n.1378-6241G>C)
c.1438G>C (p.Asp480His)
c.955G>C (p.Asp319His)
c.850G>C (p.Asp284His)
3g.122275872G>TCA354155022CASRc.1378-6241G>T (n.1378-6241G>T)
c.1438G>T (p.Asp480Tyr)
c.955G>T (p.Asp319Tyr)
c.850G>T (p.Asp284Tyr)

Number of alleles fetched