Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122275849A>CCA354154914CASRc.1378-6264A>C (n.1378-6264A>C)
c.1415A>C (p.Asn472Thr)
c.932A>C (p.Asn311Thr)
c.827A>C (p.Asn276Thr)
 ClinVar
3g.122275849A>GCA354154916CASRc.1378-6264A>G (n.1378-6264A>G)
c.1415A>G (p.Asn472Ser)
c.932A>G (p.Asn311Ser)
c.827A>G (p.Asn276Ser)
 gnomAD v4
3g.122275849A>TCA354154918CASRc.1378-6264A>T (n.1378-6264A>T)
c.1415A>T (p.Asn472Ile)
c.932A>T (p.Asn311Ile)
c.827A>T (p.Asn276Ile)
3g.122275850T>ACA354154920CASRc.1378-6263T>A (n.1378-6263T>A)
c.1416T>A (p.Asn472Lys)
c.933T>A (p.Asn311Lys)
c.828T>A (p.Asn276Lys)
3g.122275850T>CCA435424802CASRc.1378-6263T>C (n.1378-6263T>C)
c.1416T>C (p.Asn472=)
c.933T>C (p.Asn311=)
c.828T>C (p.Asn276=)
 ClinVar dbSNP
3g.122275850T>GCA354154921CASRc.1378-6263T>G (n.1378-6263T>G)
c.1416T>G (p.Asn472Lys)
c.933T>G (p.Asn311Lys)
c.828T>G (p.Asn276Lys)
3g.122275850T=CA1397883103CASRc.1378-6263T= (n.1378-6263T=)
c.1416T= (p.Asn472=)
c.933T= (p.Asn311=)
c.828T= (p.Asn276=)
3g.122275851A=CA1397883104CASRc.1378-6262A= (n.1378-6262A=)
c.1417A= (p.Met473=)
c.934A= (p.Met312=)
c.829A= (p.Met277=)
3g.122275851A>CCA354154924CASRc.1378-6262A>C (n.1378-6262A>C)
c.1417A>C (p.Met473Leu)
c.934A>C (p.Met312Leu)
c.829A>C (p.Met277Leu)
3g.122275851A>GCA354154926CASRc.1378-6262A>G (n.1378-6262A>G)
c.1417A>G (p.Met473Val)
c.934A>G (p.Met312Val)
c.829A>G (p.Met277Val)
 ClinVar dbSNP
3g.122275851A>TCA354154927CASRc.1378-6262A>T (n.1378-6262A>T)
c.1417A>T (p.Met473Leu)
c.934A>T (p.Met312Leu)
c.829A>T (p.Met277Leu)
3g.122275852T>ACA354154932CASRc.1378-6261T>A (n.1378-6261T>A)
c.1418T>A (p.Met473Lys)
c.935T>A (p.Met312Lys)
c.830T>A (p.Met277Lys)
3g.122275852T>CCA354154930CASRc.1378-6261T>C (n.1378-6261T>C)
c.1418T>C (p.Met473Thr)
c.935T>C (p.Met312Thr)
c.830T>C (p.Met277Thr)
 ClinVar dbSNP
3g.122275852T>GCA354154928CASRc.1378-6261T>G (n.1378-6261T>G)
c.1418T>G (p.Met473Arg)
c.935T>G (p.Met312Arg)
c.830T>G (p.Met277Arg)
 ClinVar
3g.122275852T=CA1397883105CASRc.1378-6261T= (n.1378-6261T=)
c.1418T= (p.Met473=)
c.935T= (p.Met312=)
c.830T= (p.Met277=)
3g.122275853G>ACA354154934CASRc.1378-6260G>A (n.1378-6260G>A)
c.1419G>A (p.Met473Ile)
c.936G>A (p.Met312Ile)
c.831G>A (p.Met277Ile)
 ClinVar dbSNP
3g.122275853G>CCA354154936CASRc.1378-6260G>C (n.1378-6260G>C)
c.1419G>C (p.Met473Ile)
c.936G>C (p.Met312Ile)
c.831G>C (p.Met277Ile)
 gnomAD v4
3g.122275853G=CA1397883106CASRc.1378-6260G= (n.1378-6260G=)
c.1419G= (p.Met473=)
c.936G= (p.Met312=)
c.831G= (p.Met277=)
3g.122275853G>TCA354154938CASRc.1378-6260G>T (n.1378-6260G>T)
c.1419G>T (p.Met473Ile)
c.936G>T (p.Met312Ile)
c.831G>T (p.Met277Ile)
3g.122275857delCA645532164CASRc.1378-6256del (n.1378-6256del)
c.1423del (p.Glu475SerfsTer3)
c.940del (p.Glu314SerfsTer3)
c.835del (p.Glu279SerfsTer3)
 COSMIC
3g.122275854G>ACA354154940CASRc.1378-6259G>A (n.1378-6259G>A)
c.1420G>A (p.Gly474Arg)
c.937G>A (p.Gly313Arg)
c.832G>A (p.Gly278Arg)
 ClinVar dbSNP
3g.122275854G>CCA354154942CASRc.1378-6259G>C (n.1378-6259G>C)
c.1420G>C (p.Gly474Arg)
c.937G>C (p.Gly313Arg)
c.832G>C (p.Gly278Arg)
3g.122275854G>TCA354154944CASRc.1378-6259G>T (n.1378-6259G>T)
c.1420G>T (p.Gly474Trp)
c.937G>T (p.Gly313Trp)
c.832G>T (p.Gly278Trp)
3g.122275855G>ACA354154946CASRc.1378-6258G>A (n.1378-6258G>A)
c.1421G>A (p.Gly474Glu)
c.938G>A (p.Gly313Glu)
c.833G>A (p.Gly278Glu)
3g.122275855G>CCA354154948CASRc.1378-6258G>C (n.1378-6258G>C)
c.1421G>C (p.Gly474Ala)
c.938G>C (p.Gly313Ala)
c.833G>C (p.Gly278Ala)
3g.122275855G>TCA354154950CASRc.1378-6258G>T (n.1378-6258G>T)
c.1421G>T (p.Gly474Val)
c.938G>T (p.Gly313Val)
c.833G>T (p.Gly278Val)
 COSMIC
3g.122275856G>ACA435424806CASRc.1378-6257G>A (n.1378-6257G>A)
c.1422G>A (p.Gly474=)
c.939G>A (p.Gly313=)
c.834G>A (p.Gly278=)
 COSMIC
3g.122275856G>CCA435424807CASRc.1378-6257G>C (n.1378-6257G>C)
c.1422G>C (p.Gly474=)
c.939G>C (p.Gly313=)
c.834G>C (p.Gly278=)
3g.122275856G>TCA435424808CASRc.1378-6257G>T (n.1378-6257G>T)
c.1422G>T (p.Gly474=)
c.939G>T (p.Gly313=)
c.834G>T (p.Gly278=)
3g.122275857G>ACA354154951CASRc.1378-6256G>A (n.1378-6256G>A)
c.1423G>A (p.Glu475Lys)
c.940G>A (p.Glu314Lys)
c.835G>A (p.Glu279Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.122275857G>CCA354154953CASRc.1378-6256G>C (n.1378-6256G>C)
c.1423G>C (p.Glu475Gln)
c.940G>C (p.Glu314Gln)
c.835G>C (p.Glu279Gln)
 ClinVar dbSNP
3g.122275857G=CA1397883107CASRc.1378-6256G= (n.1378-6256G=)
c.1423G= (p.Glu475=)
c.940G= (p.Glu314=)
c.835G= (p.Glu279=)
3g.122275857G>TCA354154955CASRc.1378-6256G>T (n.1378-6256G>T)
c.1423G>T (p.Glu475Ter)
c.940G>T (p.Glu314Ter)
c.835G>T (p.Glu279Ter)
 gnomAD v4
3g.122275858A>CCA354154961CASRc.1378-6255A>C (n.1378-6255A>C)
c.1424A>C (p.Glu475Ala)
c.941A>C (p.Glu314Ala)
c.836A>C (p.Glu279Ala)
3g.122275858A>GCA354154958CASRc.1378-6255A>G (n.1378-6255A>G)
c.1424A>G (p.Glu475Gly)
c.941A>G (p.Glu314Gly)
c.836A>G (p.Glu279Gly)
3g.122275858A>TCA354154957CASRc.1378-6255A>T (n.1378-6255A>T)
c.1424A>T (p.Glu475Val)
c.941A>T (p.Glu314Val)
c.836A>T (p.Glu279Val)
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)
3g.122275873A=CA1397883116CASRc.1378-6240A= (n.1378-6240A=)
c.1439A= (p.Asp480=)
c.956A= (p.Asp319=)
c.851A= (p.Asp284=)
3g.122275873A>CCA354155025CASRc.1378-6240A>C (n.1378-6240A>C)
c.1439A>C (p.Asp480Ala)
c.956A>C (p.Asp319Ala)
c.851A>C (p.Asp284Ala)
3g.122275873A>GCA354155028CASRc.1378-6240A>G (n.1378-6240A>G)
c.1439A>G (p.Asp480Gly)
c.956A>G (p.Asp319Gly)
c.851A>G (p.Asp284Gly)
3g.122275873A>TCA354155026CASRc.1378-6240A>T (n.1378-6240A>T)
c.1439A>T (p.Asp480Val)
c.956A>T (p.Asp319Val)
c.851A>T (p.Asp284Val)
 ClinVar dbSNP
3g.122275874T>ACA354155030CASRc.1378-6239T>A (n.1378-6239T>A)
c.1440T>A (p.Asp480Glu)
c.957T>A (p.Asp319Glu)
c.852T>A (p.Asp284Glu)
 ClinVar
3g.122275874T>CCA435424848CASRc.1378-6239T>C (n.1378-6239T>C)
c.1440T>C (p.Asp480=)
c.957T>C (p.Asp319=)
c.852T>C (p.Asp284=)
3g.122275874T>GCA354155033CASRc.1378-6239T>G (n.1378-6239T>G)
c.1440T>G (p.Asp480Glu)
c.957T>G (p.Asp319Glu)
c.852T>G (p.Asp284Glu)
3g.122275875G>ACA354155035CASRc.1378-6238G>A (n.1378-6238G>A)
c.1441G>A (p.Glu481Lys)
c.958G>A (p.Glu320Lys)
c.853G>A (p.Glu285Lys)
3g.122275875G>CCA354155039CASRc.1378-6238G>C (n.1378-6238G>C)
c.1441G>C (p.Glu481Gln)
c.958G>C (p.Glu320Gln)
c.853G>C (p.Glu285Gln)
3g.122275875G>TCA354155037CASRc.1378-6238G>T (n.1378-6238G>T)
c.1441G>T (p.Glu481Ter)
c.958G>T (p.Glu320Ter)
c.853G>T (p.Glu285Ter)
3g.122275876A>CCA354155041CASRc.1378-6237A>C (n.1378-6237A>C)
c.1442A>C (p.Glu481Ala)
c.959A>C (p.Glu320Ala)
c.854A>C (p.Glu285Ala)
 gnomAD v4
3g.122275876A>GCA354155044CASRc.1378-6237A>G (n.1378-6237A>G)
c.1442A>G (p.Glu481Gly)
c.959A>G (p.Glu320Gly)
c.854A>G (p.Glu285Gly)
 ClinVar
3g.122275876A>TCA354155043CASRc.1378-6237A>T (n.1378-6237A>T)
c.1442A>T (p.Glu481Val)
c.959A>T (p.Glu320Val)
c.854A>T (p.Glu285Val)
3g.122275877G>ACA435424852CASRc.1378-6236G>A (n.1378-6236G>A)
c.1443G>A (p.Glu481=)
c.960G>A (p.Glu320=)
c.855G>A (p.Glu285=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122275877G>CCA354155046CASRc.1378-6236G>C (n.1378-6236G>C)
c.1443G>C (p.Glu481Asp)
c.960G>C (p.Glu320Asp)
c.855G>C (p.Glu285Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122275877G=CA1397883117CASRc.1378-6236G= (n.1378-6236G=)
c.1443G= (p.Glu481=)
c.960G= (p.Glu320=)
c.855G= (p.Glu285=)
3g.122275877G>TCA354155048CASRc.1378-6236G>T (n.1378-6236G>T)
c.1443G>T (p.Glu481Asp)
c.960G>T (p.Glu320Asp)
c.855G>T (p.Glu285Asp)
3g.122275881_122275882insTTGGGTGTGTTTGGTTGTGTGCA2758179101CASRc.1378-6232_1378-6231insTTGGGTGTGTTTGGTTGTGTG (n.1378-6232_1378-6231insTTGGGTGTGTTTGGTTGTGTG)
c.1447_1448insTTGGGTGTGTTTGGTTGTGTG (p.Cys482_Gly483insValGlyCysValTrpLeuCys)
c.964_965insTTGGGTGTGTTTGGTTGTGTG (p.Cys321_Gly322insValGlyCysValTrpLeuCys)
c.859_860insTTGGGTGTGTTTGGTTGTGTG (p.Cys286_Gly287insValGlyCysValTrpLeuCys)
3g.122275878T>ACA2569659CASRc.1378-6235T>A (n.1378-6235T>A)
c.1444T>A (p.Cys482Ser)
c.961T>A (p.Cys321Ser)
c.856T>A (p.Cys286Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122275878T>CCA354155052CASRc.1378-6235T>C (n.1378-6235T>C)
c.1444T>C (p.Cys482Arg)
c.961T>C (p.Cys321Arg)
c.856T>C (p.Cys286Arg)
 ClinVar dbSNP
3g.122275878T>GCA354155054CASRc.1378-6235T>G (n.1378-6235T>G)
c.1444T>G (p.Cys482Gly)
c.961T>G (p.Cys321Gly)
c.856T>G (p.Cys286Gly)
 ClinVar
3g.122275878T=CA1397883118CASRc.1378-6235T= (n.1378-6235T=)
c.1444T= (p.Cys482=)
c.961T= (p.Cys321=)
c.856T= (p.Cys286=)
3g.122275879G>ACA2569660CASRc.1378-6234G>A (n.1378-6234G>A)
c.1445G>A (p.Cys482Tyr)
c.962G>A (p.Cys321Tyr)
c.857G>A (p.Cys286Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122275879G>CCA354155056CASRc.1378-6234G>C (n.1378-6234G>C)
c.1445G>C (p.Cys482Ser)
c.962G>C (p.Cys321Ser)
c.857G>C (p.Cys286Ser)
3g.122275879G=CA1397883119CASRc.1378-6234G= (n.1378-6234G=)
c.1445G= (p.Cys482=)
c.962G= (p.Cys321=)
c.857G= (p.Cys286=)
3g.122275879G>TCA354155059CASRc.1378-6234G>T (n.1378-6234G>T)
c.1445G>T (p.Cys482Phe)
c.962G>T (p.Cys321Phe)
c.857G>T (p.Cys286Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122275880T>ACA354155066CASRc.1378-6233T>A (n.1378-6233T>A)
c.1446T>A (p.Cys482Ter)
c.963T>A (p.Cys321Ter)
c.858T>A (p.Cys286Ter)
3g.122275880T>CCA435424857CASRc.1378-6233T>C (n.1378-6233T>C)
c.1446T>C (p.Cys482=)
c.963T>C (p.Cys321=)
c.858T>C (p.Cys286=)
 ClinVar gnomAD v4
3g.122275880T>GCA354155067CASRc.1378-6233T>G (n.1378-6233T>G)
c.1446T>G (p.Cys482Trp)
c.963T>G (p.Cys321Trp)
c.858T>G (p.Cys286Trp)
3g.122275881G>ACA354155069CASRc.1378-6232G>A (n.1378-6232G>A)
c.1447G>A (p.Gly483Ser)
c.964G>A (p.Gly322Ser)
c.859G>A (p.Gly287Ser)
 dbSNP
3g.122275881G>CCA354155071CASRc.1378-6232G>C (n.1378-6232G>C)
c.1447G>C (p.Gly483Arg)
c.964G>C (p.Gly322Arg)
c.859G>C (p.Gly287Arg)
3g.122275881G>TCA354155073CASRc.1378-6232G>T (n.1378-6232G>T)
c.1447G>T (p.Gly483Cys)
c.964G>T (p.Gly322Cys)
c.859G>T (p.Gly287Cys)
3g.122275882G>ACA354155079CASRc.1378-6231G>A (n.1378-6231G>A)
c.1448G>A (p.Gly483Asp)
c.965G>A (p.Gly322Asp)
c.860G>A (p.Gly287Asp)
3g.122275882G>CCA354155076CASRc.1378-6231G>C (n.1378-6231G>C)
c.1448G>C (p.Gly483Ala)
c.965G>C (p.Gly322Ala)
c.860G>C (p.Gly287Ala)
3g.122275882G>TCA354155077CASRc.1378-6231G>T (n.1378-6231G>T)
c.1448G>T (p.Gly483Val)
c.965G>T (p.Gly322Val)
c.860G>T (p.Gly287Val)
3g.122275883T>ACA435424864CASRc.1378-6230T>A (n.1378-6230T>A)
c.1449T>A (p.Gly483=)
c.966T>A (p.Gly322=)
c.861T>A (p.Gly287=)
3g.122275883T>CCA435424865CASRc.1378-6230T>C (n.1378-6230T>C)
c.1449T>C (p.Gly483=)
c.966T>C (p.Gly322=)
c.861T>C (p.Gly287=)
 ClinVar dbSNP
3g.122275883T>GCA2569661CASRc.1378-6230T>G (n.1378-6230T>G)
c.1449T>G (p.Gly483=)
c.966T>G (p.Gly322=)
c.861T>G (p.Gly287=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122275883T=CA1397883120CASRc.1378-6230T= (n.1378-6230T=)
c.1449T= (p.Gly483=)
c.966T= (p.Gly322=)
c.861T= (p.Gly287=)
3g.122275884G>ACA354155082CASRc.1378-6229G>A (n.1378-6229G>A)
c.1450G>A (p.Asp484Asn)
c.967G>A (p.Asp323Asn)
c.862G>A (p.Asp288Asn)
3g.122275884G>CCA354155084CASRc.1378-6229G>C (n.1378-6229G>C)
c.1450G>C (p.Asp484His)
c.967G>C (p.Asp323His)
c.862G>C (p.Asp288His)
3g.122275884G>TCA354155086CASRc.1378-6229G>T (n.1378-6229G>T)
c.1450G>T (p.Asp484Tyr)
c.967G>T (p.Asp323Tyr)
c.862G>T (p.Asp288Tyr)
3g.122275885A>CCA354155088CASRc.1378-6228A>C (n.1378-6228A>C)
c.1451A>C (p.Asp484Ala)
c.968A>C (p.Asp323Ala)
c.863A>C (p.Asp288Ala)
3g.122275885A>GCA354155090CASRc.1378-6228A>G (n.1378-6228A>G)
c.1451A>G (p.Asp484Gly)
c.968A>G (p.Asp323Gly)
c.863A>G (p.Asp288Gly)
3g.122275885A>TCA354155092CASRc.1378-6228A>T (n.1378-6228A>T)
c.1451A>T (p.Asp484Val)
c.968A>T (p.Asp323Val)
c.863A>T (p.Asp288Val)
3g.122275886C>ACA354155093CASRc.1378-6227C>A (n.1378-6227C>A)
c.1452C>A (p.Asp484Glu)
c.969C>A (p.Asp323Glu)
c.864C>A (p.Asp288Glu)
 gnomAD v4
3g.122275886C=CA1397883121CASRc.1378-6227C= (n.1378-6227C=)
c.1452C= (p.Asp484=)
c.969C= (p.Asp323=)
c.864C= (p.Asp288=)
3g.122275886C>GCA354155095CASRc.1378-6227C>G (n.1378-6227C>G)
c.1452C>G (p.Asp484Glu)
c.969C>G (p.Asp323Glu)
c.864C>G (p.Asp288Glu)
3g.122275886C>TCA2569662CASRc.1378-6227C>T (n.1378-6227C>T)
c.1452C>T (p.Asp484=)
c.969C>T (p.Asp323=)
c.864C>T (p.Asp288=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122275887C>ACA354155099CASRc.1378-6226C>A (n.1378-6226C>A)
c.1453C>A (p.Leu485Met)
c.970C>A (p.Leu324Met)
c.865C>A (p.Leu289Met)
3g.122275887C>GCA354155097CASRc.1378-6226C>G (n.1378-6226C>G)
c.1453C>G (p.Leu485Val)
c.970C>G (p.Leu324Val)
c.865C>G (p.Leu289Val)
3g.122275887C>TCA435424877CASRc.1378-6226C>T (n.1378-6226C>T)
c.1453C>T (p.Leu485=)
c.970C>T (p.Leu324=)
c.865C>T (p.Leu289=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122275888T>ACA354155101CASRc.1378-6225T>A (n.1378-6225T>A)
c.1454T>A (p.Leu485Gln)
c.971T>A (p.Leu324Gln)
c.866T>A (p.Leu289Gln)
3g.122275888T>CCA354155102CASRc.1378-6225T>C (n.1378-6225T>C)
c.1454T>C (p.Leu485Pro)
c.971T>C (p.Leu324Pro)
c.866T>C (p.Leu289Pro)
3g.122275888T>GCA354155104CASRc.1378-6225T>G (n.1378-6225T>G)
c.1454T>G (p.Leu485Arg)
c.971T>G (p.Leu324Arg)
c.866T>G (p.Leu289Arg)
3g.122275889G>ACA435424879CASRc.1378-6224G>A (n.1378-6224G>A)
c.1455G>A (p.Leu485=)
c.972G>A (p.Leu324=)
c.867G>A (p.Leu289=)
 ClinVar dbSNP gnomAD v4
3g.122275889G>CCA435424880CASRc.1378-6224G>C (n.1378-6224G>C)
c.1455G>C (p.Leu485=)
c.972G>C (p.Leu324=)
c.867G>C (p.Leu289=)
 COSMIC
3g.122275889G=CA1397883122CASRc.1378-6224G= (n.1378-6224G=)
c.1455G= (p.Leu485=)
c.972G= (p.Leu324=)
c.867G= (p.Leu289=)
3g.122275889G>TCA435424881CASRc.1378-6224G>T (n.1378-6224G>T)
c.1455G>T (p.Leu485=)
c.972G>T (p.Leu324=)
c.867G>T (p.Leu289=)
3g.122275890G>ACA82745948CASRc.1378-6223G>A (n.1378-6223G>A)
c.1456G>A (p.Val486Met)
c.973G>A (p.Val325Met)
c.868G>A (p.Val290Met)
 ClinVar dbSNP
3g.122275890G>CCA354155106CASRc.1378-6223G>C (n.1378-6223G>C)
c.1456G>C (p.Val486Leu)
c.973G>C (p.Val325Leu)
c.868G>C (p.Val290Leu)
3g.122275890G=CA1397883123CASRc.1378-6223G= (n.1378-6223G=)
c.1456G= (p.Val486=)
c.973G= (p.Val325=)
c.868G= (p.Val290=)
3g.122275890G>TCA2569663CASRc.1378-6223G>T (n.1378-6223G>T)
c.1456G>T (p.Val486Leu)
c.973G>T (p.Val325Leu)
c.868G>T (p.Val290Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122275891T>ACA354155108CASRc.1378-6222T>A (n.1378-6222T>A)
c.1457T>A (p.Val486Glu)
c.974T>A (p.Val325Glu)
c.869T>A (p.Val290Glu)
 COSMIC
3g.122275891T>CCA354155109CASRc.1378-6222T>C (n.1378-6222T>C)
c.1457T>C (p.Val486Ala)
c.974T>C (p.Val325Ala)
c.869T>C (p.Val290Ala)
3g.122275891T>GCA354155110CASRc.1378-6222T>G (n.1378-6222T>G)
c.1457T>G (p.Val486Gly)
c.974T>G (p.Val325Gly)
c.869T>G (p.Val290Gly)
3g.122275892G>ACA435424886CASRc.1378-6221G>A (n.1378-6221G>A)
c.1458G>A (p.Val486=)
c.975G>A (p.Val325=)
c.870G>A (p.Val290=)
 ClinVar dbSNP gnomAD v4
3g.122275892G>CCA435424888CASRc.1378-6221G>C (n.1378-6221G>C)
c.1458G>C (p.Val486=)
c.975G>C (p.Val325=)
c.870G>C (p.Val290=)
3g.122275892G=CA1397883124CASRc.1378-6221G= (n.1378-6221G=)
c.1458G= (p.Val486=)
c.975G= (p.Val325=)
c.870G= (p.Val290=)
3g.122275892G>TCA435424891CASRc.1378-6221G>T (n.1378-6221G>T)
c.1458G>T (p.Val486=)
c.975G>T (p.Val325=)
c.870G>T (p.Val290=)
3g.122275893G>ACA354155112CASRc.1378-6220G>A (n.1378-6220G>A)
c.1459G>A (p.Gly487Arg)
c.976G>A (p.Gly326Arg)
c.871G>A (p.Gly291Arg)
 ClinVar dbSNP
3g.122275893G>CCA354155114CASRc.1378-6220G>C (n.1378-6220G>C)
c.1459G>C (p.Gly487Arg)
c.976G>C (p.Gly326Arg)
c.871G>C (p.Gly291Arg)
3g.122275893G=CA1397883125CASRc.1378-6220G= (n.1378-6220G=)
c.1459G= (p.Gly487=)
c.976G= (p.Gly326=)
c.871G= (p.Gly291=)
3g.122275893G>TCA354155115CASRc.1378-6220G>T (n.1378-6220G>T)
c.1459G>T (p.Gly487Trp)
c.976G>T (p.Gly326Trp)
c.871G>T (p.Gly291Trp)
3g.122275894G>ACA354155121CASRc.1378-6219G>A (n.1378-6219G>A)
c.1460G>A (p.Gly487Glu)
c.977G>A (p.Gly326Glu)
c.872G>A (p.Gly291Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122275894G>CCA354155117CASRc.1378-6219G>C (n.1378-6219G>C)
c.1460G>C (p.Gly487Ala)
c.977G>C (p.Gly326Ala)
c.872G>C (p.Gly291Ala)
3g.122275894G=CA1397883126CASRc.1378-6219G= (n.1378-6219G=)
c.1460G= (p.Gly487=)
c.977G= (p.Gly326=)
c.872G= (p.Gly291=)
3g.122275894G>TCA354155119CASRc.1378-6219G>T (n.1378-6219G>T)
c.1460G>T (p.Gly487Val)
c.977G>T (p.Gly326Val)
c.872G>T (p.Gly291Val)
3g.122275895G>ACA435424898CASRc.1378-6218G>A (n.1378-6218G>A)
c.1461G>A (p.Gly487=)
c.978G>A (p.Gly326=)
c.873G>A (p.Gly291=)
 COSMIC
3g.122275895G>CCA435424899CASRc.1378-6218G>C (n.1378-6218G>C)
c.1461G>C (p.Gly487=)
c.978G>C (p.Gly326=)
c.873G>C (p.Gly291=)
3g.122275895G=CA1397883127CASRc.1378-6218G= (n.1378-6218G=)
c.1461G= (p.Gly487=)
c.978G= (p.Gly326=)
c.873G= (p.Gly291=)
3g.122275895G>TCA82745950CASRc.1378-6218G>T (n.1378-6218G>T)
c.1461G>T (p.Gly487=)
c.978G>T (p.Gly326=)
c.873G>T (p.Gly291=)
 dbSNP gnomAD v4
3g.122275896A>CCA354155124CASRc.1378-6217A>C (n.1378-6217A>C)
c.1462A>C (p.Asn488His)
c.979A>C (p.Asn327His)
c.874A>C (p.Asn292His)
3g.122275896A>GCA354155126CASRc.1378-6217A>G (n.1378-6217A>G)
c.1462A>G (p.Asn488Asp)
c.979A>G (p.Asn327Asp)
c.874A>G (p.Asn292Asp)
3g.122275896A>TCA354155128CASRc.1378-6217A>T (n.1378-6217A>T)
c.1462A>T (p.Asn488Tyr)
c.979A>T (p.Asn327Tyr)
c.874A>T (p.Asn292Tyr)
3g.122275897A=CA1397883128CASRc.1378-6216A= (n.1378-6216A=)
c.1463A= (p.Asn488=)
c.980A= (p.Asn327=)
c.875A= (p.Asn292=)
3g.122275897A>CCA354155129CASRc.1378-6216A>C (n.1378-6216A>C)
c.1463A>C (p.Asn488Thr)
c.980A>C (p.Asn327Thr)
c.875A>C (p.Asn292Thr)
3g.122275897A>GCA2569664CASRc.1378-6216A>G (n.1378-6216A>G)
c.1463A>G (p.Asn488Ser)
c.980A>G (p.Asn327Ser)
c.875A>G (p.Asn292Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122275897A>TCA354155131CASRc.1378-6216A>T (n.1378-6216A>T)
c.1463A>T (p.Asn488Ile)
c.980A>T (p.Asn327Ile)
c.875A>T (p.Asn292Ile)
 ClinVar dbSNP
3g.122275898C>ACA354155133CASRc.1378-6215C>A (n.1378-6215C>A)
c.1464C>A (p.Asn488Lys)
c.981C>A (p.Asn327Lys)
c.876C>A (p.Asn292Lys)
3g.122275898C>GCA354155135CASRc.1378-6215C>G (n.1378-6215C>G)
c.1464C>G (p.Asn488Lys)
c.981C>G (p.Asn327Lys)
c.876C>G (p.Asn292Lys)
3g.122275898C>TCA435424906CASRc.1378-6215C>T (n.1378-6215C>T)
c.1464C>T (p.Asn488=)
c.981C>T (p.Asn327=)
c.876C>T (p.Asn292=)
 ClinVar
3g.122275899T>ACA354155137CASRc.1378-6214T>A (n.1378-6214T>A)
c.1465T>A (p.Tyr489Asn)
c.982T>A (p.Tyr328Asn)
c.877T>A (p.Tyr293Asn)
3g.122275899T>CCA354155139CASRc.1378-6214T>C (n.1378-6214T>C)
c.1465T>C (p.Tyr489His)
c.982T>C (p.Tyr328His)
c.877T>C (p.Tyr293His)
 ClinVar
3g.122275899T>GCA354155141CASRc.1378-6214T>G (n.1378-6214T>G)
c.1465T>G (p.Tyr489Asp)
c.982T>G (p.Tyr328Asp)
c.877T>G (p.Tyr293Asp)
3g.122275900A=CA1397883129CASRc.1378-6213A= (n.1378-6213A=)
c.1466A= (p.Tyr489=)
c.983A= (p.Tyr328=)
c.878A= (p.Tyr293=)
3g.122275900A>CCA354155146CASRc.1378-6213A>C (n.1378-6213A>C)
c.1466A>C (p.Tyr489Ser)
c.983A>C (p.Tyr328Ser)
c.878A>C (p.Tyr293Ser)
3g.122275900A>GCA354155147CASRc.1378-6213A>G (n.1378-6213A>G)
c.1466A>G (p.Tyr489Cys)
c.983A>G (p.Tyr328Cys)
c.878A>G (p.Tyr293Cys)
 ClinVar dbSNP
3g.122275900A>TCA354155143CASRc.1378-6213A>T (n.1378-6213A>T)
c.1466A>T (p.Tyr489Phe)
c.983A>T (p.Tyr328Phe)
c.878A>T (p.Tyr293Phe)
3g.122275901T>ACA354155151CASRc.1378-6212T>A (n.1378-6212T>A)
c.1467T>A (p.Tyr489Ter)
c.984T>A (p.Tyr328Ter)
c.879T>A (p.Tyr293Ter)
3g.122275901T>CCA435424907CASRc.1378-6212T>C (n.1378-6212T>C)
c.1467T>C (p.Tyr489=)
c.984T>C (p.Tyr328=)
c.879T>C (p.Tyr293=)
 ClinVar dbSNP
3g.122275901T>GCA354155149CASRc.1378-6212T>G (n.1378-6212T>G)
c.1467T>G (p.Tyr489Ter)
c.984T>G (p.Tyr328Ter)
c.879T>G (p.Tyr293Ter)
3g.122275901T=CA1397883130CASRc.1378-6212T= (n.1378-6212T=)
c.1467T= (p.Tyr489=)
c.984T= (p.Tyr328=)
c.879T= (p.Tyr293=)
3g.122275902T>ACA354155153CASRc.1378-6211T>A (n.1378-6211T>A)
c.1468T>A (p.Ser490Thr)
c.985T>A (p.Ser329Thr)
c.880T>A (p.Ser294Thr)
3g.122275902T>CCA354155155CASRc.1378-6211T>C (n.1378-6211T>C)
c.1468T>C (p.Ser490Pro)
c.985T>C (p.Ser329Pro)
c.880T>C (p.Ser294Pro)
 gnomAD v4
3g.122275902T>GCA354155157CASRc.1378-6211T>G (n.1378-6211T>G)
c.1468T>G (p.Ser490Ala)
c.985T>G (p.Ser329Ala)
c.880T>G (p.Ser294Ala)
3g.122275903C>ACA354155159CASRc.1378-6210C>A (n.1378-6210C>A)
c.1469C>A (p.Ser490Tyr)
c.986C>A (p.Ser329Tyr)
c.881C>A (p.Ser294Tyr)
3g.122275903C=CA1397883131CASRc.1378-6210C= (n.1378-6210C=)
c.1469C= (p.Ser490=)
c.986C= (p.Ser329=)
c.881C= (p.Ser294=)
3g.122275903C>GCA354155161CASRc.1378-6210C>G (n.1378-6210C>G)
c.1469C>G (p.Ser490Cys)
c.986C>G (p.Ser329Cys)
c.881C>G (p.Ser294Cys)
3g.122275903C>TCA82745953CASRc.1378-6210C>T (n.1378-6210C>T)
c.1469C>T (p.Ser490Phe)
c.986C>T (p.Ser329Phe)
c.881C>T (p.Ser294Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.122275904C>ACA435424908CASRc.1378-6209C>A (n.1378-6209C>A)
c.1470C>A (p.Ser490=)
c.987C>A (p.Ser329=)
c.882C>A (p.Ser294=)
3g.122275904C>GCA435424909CASRc.1378-6209C>G (n.1378-6209C>G)
c.1470C>G (p.Ser490=)
c.987C>G (p.Ser329=)
c.882C>G (p.Ser294=)
3g.122275904C>TCA435424913CASRc.1378-6209C>T (n.1378-6209C>T)
c.1470C>T (p.Ser490=)
c.987C>T (p.Ser329=)
c.882C>T (p.Ser294=)
3g.122275905A=CA1397883132CASRc.1378-6208A= (n.1378-6208A=)
c.1471A= (p.Ile491=)
c.988A= (p.Ile330=)
c.883A= (p.Ile295=)
3g.122275905A>CCA354155164CASRc.1378-6208A>C (n.1378-6208A>C)
c.1471A>C (p.Ile491Leu)
c.988A>C (p.Ile330Leu)
c.883A>C (p.Ile295Leu)
3g.122275905A>GCA2569665CASRc.1378-6208A>G (n.1378-6208A>G)
c.1471A>G (p.Ile491Val)
c.988A>G (p.Ile330Val)
c.883A>G (p.Ile295Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.122275905A>TCA354155166CASRc.1378-6208A>T (n.1378-6208A>T)
c.1471A>T (p.Ile491Phe)
c.988A>T (p.Ile330Phe)
c.883A>T (p.Ile295Phe)
3g.122275906T>ACA354155168CASRc.1378-6207T>A (n.1378-6207T>A)
c.1472T>A (p.Ile491Asn)
c.989T>A (p.Ile330Asn)
c.884T>A (p.Ile295Asn)
3g.122275906T>CCA354155169CASRc.1378-6207T>C (n.1378-6207T>C)
c.1472T>C (p.Ile491Thr)
c.989T>C (p.Ile330Thr)
c.884T>C (p.Ile295Thr)
3g.122275906T>GCA354155170CASRc.1378-6207T>G (n.1378-6207T>G)
c.1472T>G (p.Ile491Ser)
c.989T>G (p.Ile330Ser)
c.884T>G (p.Ile295Ser)
3g.122275907C>ACA435424917CASRc.1378-6206C>A (n.1378-6206C>A)
c.1473C>A (p.Ile491=)
c.990C>A (p.Ile330=)
c.885C>A (p.Ile295=)
3g.122275907C>GCA354155171CASRc.1378-6206C>G (n.1378-6206C>G)
c.1473C>G (p.Ile491Met)
c.990C>G (p.Ile330Met)
c.885C>G (p.Ile295Met)
3g.122275907C>TCA435424918CASRc.1378-6206C>T (n.1378-6206C>T)
c.1473C>T (p.Ile491=)
c.990C>T (p.Ile330=)
c.885C>T (p.Ile295=)
3g.122275908A>CCA354155172CASRc.1378-6205A>C (n.1378-6205A>C)
c.1474A>C (p.Ile492Leu)
c.991A>C (p.Ile331Leu)
c.886A>C (p.Ile296Leu)
3g.122275908A>GCA354155174CASRc.1378-6205A>G (n.1378-6205A>G)
c.1474A>G (p.Ile492Val)
c.991A>G (p.Ile331Val)
c.886A>G (p.Ile296Val)
3g.122275908A>TCA354155173CASRc.1378-6205A>T (n.1378-6205A>T)
c.1474A>T (p.Ile492Phe)
c.991A>T (p.Ile331Phe)
c.886A>T (p.Ile296Phe)
3g.122275909T>ACA354155175CASRc.1378-6204T>A (n.1378-6204T>A)
c.1475T>A (p.Ile492Asn)
c.992T>A (p.Ile331Asn)
c.887T>A (p.Ile296Asn)
3g.122275909T>CCA354155176CASRc.1378-6204T>C (n.1378-6204T>C)
c.1475T>C (p.Ile492Thr)
c.992T>C (p.Ile331Thr)
c.887T>C (p.Ile296Thr)
3g.122275909T>GCA354155177CASRc.1378-6204T>G (n.1378-6204T>G)
c.1475T>G (p.Ile492Ser)
c.992T>G (p.Ile331Ser)
c.887T>G (p.Ile296Ser)
3g.122275910C>ACA435424923CASRc.1378-6203C>A (n.1378-6203C>A)
c.1476C>A (p.Ile492=)
c.993C>A (p.Ile331=)
c.888C>A (p.Ile296=)
3g.122275910C=CA1397883133CASRc.1378-6203C= (n.1378-6203C=)
c.1476C= (p.Ile492=)
c.993C= (p.Ile331=)
c.888C= (p.Ile296=)
3g.122275910C>GCA354155178CASRc.1378-6203C>G (n.1378-6203C>G)
c.1476C>G (p.Ile492Met)
c.993C>G (p.Ile331Met)
c.888C>G (p.Ile296Met)
3g.122275910C>TCA435424926CASRc.1378-6203C>T (n.1378-6203C>T)
c.1476C>T (p.Ile492=)
c.993C>T (p.Ile331=)
c.888C>T (p.Ile296=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122275911A>CCA354155179CASRc.1378-6202A>C (n.1378-6202A>C)
c.1477A>C (p.Asn493His)
c.994A>C (p.Asn332His)
c.889A>C (p.Asn297His)
3g.122275911A>GCA354155180CASRc.1378-6202A>G (n.1378-6202A>G)
c.1477A>G (p.Asn493Asp)
c.994A>G (p.Asn332Asp)
c.889A>G (p.Asn297Asp)
3g.122275911A>TCA354155181CASRc.1378-6202A>T (n.1378-6202A>T)
c.1477A>T (p.Asn493Tyr)
c.994A>T (p.Asn332Tyr)
c.889A>T (p.Asn297Tyr)
3g.122275912A=CA1397883134CASRc.1378-6201A= (n.1378-6201A=)
c.1478A= (p.Asn493=)
c.995A= (p.Asn332=)
c.890A= (p.Asn297=)
3g.122275912A>CCA354155182CASRc.1378-6201A>C (n.1378-6201A>C)
c.1478A>C (p.Asn493Thr)
c.995A>C (p.Asn332Thr)
c.890A>C (p.Asn297Thr)
 ClinVar dbSNP
3g.122275912A>GCA16611092CASRc.1378-6201A>G (n.1378-6201A>G)
c.1478A>G (p.Asn493Ser)
c.995A>G (p.Asn332Ser)
c.890A>G (p.Asn297Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122275912A>TCA354155183CASRc.1378-6201A>T (n.1378-6201A>T)
c.1478A>T (p.Asn493Ile)
c.995A>T (p.Asn332Ile)
c.890A>T (p.Asn297Ile)
 gnomAD v4
3g.122275913C>ACA354155185CASRc.1378-6200C>A (n.1378-6200C>A)
c.1479C>A (p.Asn493Lys)
c.996C>A (p.Asn332Lys)
c.891C>A (p.Asn297Lys)
 dbSNP gnomAD v2 gnomAD v4
3g.122275913C=CA1397883135CASRc.1378-6200C= (n.1378-6200C=)
c.1479C= (p.Asn493=)
c.996C= (p.Asn332=)
c.891C= (p.Asn297=)
3g.122275913C>GCA354155184CASRc.1378-6200C>G (n.1378-6200C>G)
c.1479C>G (p.Asn493Lys)
c.996C>G (p.Asn332Lys)
c.891C>G (p.Asn297Lys)
 gnomAD v4
3g.122275913C>TCA82745962CASRc.1378-6200C>T (n.1378-6200C>T)
c.1479C>T (p.Asn493=)
c.996C>T (p.Asn332=)
c.891C>T (p.Asn297=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122275914T>ACA354155186CASRc.1378-6199T>A (n.1378-6199T>A)
c.1480T>A (p.Trp494Arg)
c.997T>A (p.Trp333Arg)
c.892T>A (p.Trp298Arg)
3g.122275914T>CCA354155187CASRc.1378-6199T>C (n.1378-6199T>C)
c.1480T>C (p.Trp494Arg)
c.997T>C (p.Trp333Arg)
c.892T>C (p.Trp298Arg)
3g.122275914T>GCA354155188CASRc.1378-6199T>G (n.1378-6199T>G)
c.1480T>G (p.Trp494Gly)
c.997T>G (p.Trp333Gly)
c.892T>G (p.Trp298Gly)
3g.122275915G>ACA354155189CASRc.1378-6198G>A (n.1378-6198G>A)
c.1481G>A (p.Trp494Ter)
c.998G>A (p.Trp333Ter)
c.893G>A (p.Trp298Ter)
3g.122275915G>CCA354155190CASRc.1378-6198G>C (n.1378-6198G>C)
c.1481G>C (p.Trp494Ser)
c.998G>C (p.Trp333Ser)
c.893G>C (p.Trp298Ser)
3g.122275915G>TCA354155191CASRc.1378-6198G>T (n.1378-6198G>T)
c.1481G>T (p.Trp494Leu)
c.998G>T (p.Trp333Leu)
c.893G>T (p.Trp298Leu)
3g.122275916G>ACA354155192CASRc.1378-6197G>A (n.1378-6197G>A)
c.1482G>A (p.Trp494Ter)
c.999G>A (p.Trp333Ter)
c.894G>A (p.Trp298Ter)
 gnomAD v4
3g.122275916G>CCA354155193CASRc.1378-6197G>C (n.1378-6197G>C)
c.1482G>C (p.Trp494Cys)
c.999G>C (p.Trp333Cys)
c.894G>C (p.Trp298Cys)
3g.122275916G>TCA354155194CASRc.1378-6197G>T (n.1378-6197G>T)
c.1482G>T (p.Trp494Cys)
c.999G>T (p.Trp333Cys)
c.894G>T (p.Trp298Cys)
3g.122275917C>ACA354155195CASRc.1378-6196C>A (n.1378-6196C>A)
c.1483C>A (p.His495Asn)
c.1000C>A (p.His334Asn)
c.895C>A (p.His299Asn)
3g.122275917C>GCA354155196CASRc.1378-6196C>G (n.1378-6196C>G)
c.1483C>G (p.His495Asp)
c.1000C>G (p.His334Asp)
c.895C>G (p.His299Asp)
3g.122275917C>TCA354155197CASRc.1378-6196C>T (n.1378-6196C>T)
c.1483C>T (p.His495Tyr)
c.1000C>T (p.His334Tyr)
c.895C>T (p.His299Tyr)
 ClinVar
3g.122275918A>CCA354155199CASRc.1378-6195A>C (n.1378-6195A>C)
c.1484A>C (p.His495Pro)
c.1001A>C (p.His334Pro)
c.896A>C (p.His299Pro)
3g.122275918A>GCA354155200CASRc.1378-6195A>G (n.1378-6195A>G)
c.1484A>G (p.His495Arg)
c.1001A>G (p.His334Arg)
c.896A>G (p.His299Arg)
3g.122275918A>TCA354155198CASRc.1378-6195A>T (n.1378-6195A>T)
c.1484A>T (p.His495Leu)
c.1001A>T (p.His334Leu)
c.896A>T (p.His299Leu)
3g.122275919C>ACA354155201CASRc.1378-6194C>A (n.1378-6194C>A)
c.1485C>A (p.His495Gln)
c.1002C>A (p.His334Gln)
c.897C>A (p.His299Gln)
3g.122275919C>GCA354155202CASRc.1378-6194C>G (n.1378-6194C>G)
c.1485C>G (p.His495Gln)
c.1002C>G (p.His334Gln)
c.897C>G (p.His299Gln)
3g.122275919C>TCA435424950CASRc.1378-6194C>T (n.1378-6194C>T)
c.1485C>T (p.His495=)
c.1002C>T (p.His334=)
c.897C>T (p.His299=)
3g.122275920C>ACA354155203CASRc.1378-6193C>A (n.1378-6193C>A)
c.1486C>A (p.Leu496Ile)
c.1003C>A (p.Leu335Ile)
c.898C>A (p.Leu300Ile)
3g.122275920C=CA1397883136CASRc.1378-6193C= (n.1378-6193C=)
c.1486C= (p.Leu496=)
c.1003C= (p.Leu335=)
c.898C= (p.Leu300=)
3g.122275920C>GCA354155204CASRc.1378-6193C>G (n.1378-6193C>G)
c.1486C>G (p.Leu496Val)
c.1003C>G (p.Leu335Val)
c.898C>G (p.Leu300Val)
3g.122275920C>TCA2569666CASRc.1378-6193C>T (n.1378-6193C>T)
c.1486C>T (p.Leu496Phe)
c.1003C>T (p.Leu335Phe)
c.898C>T (p.Leu300Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122275921T>ACA354155207CASRc.1378-6192T>A (n.1378-6192T>A)
c.1487T>A (p.Leu496His)
c.1004T>A (p.Leu335His)
c.899T>A (p.Leu300His)
3g.122275921T>CCA354155205CASRc.1378-6192T>C (n.1378-6192T>C)
c.1487T>C (p.Leu496Pro)
c.1004T>C (p.Leu335Pro)
c.899T>C (p.Leu300Pro)
 ClinVar dbSNP
3g.122275921T>GCA354155206CASRc.1378-6192T>G (n.1378-6192T>G)
c.1487T>G (p.Leu496Arg)
c.1004T>G (p.Leu335Arg)
c.899T>G (p.Leu300Arg)
3g.122275922C>ACA435424955CASRc.1378-6191C>A (n.1378-6191C>A)
c.1488C>A (p.Leu496=)
c.1005C>A (p.Leu335=)
c.900C>A (p.Leu300=)
 gnomAD v4
3g.122275922C=CA1397883137CASRc.1378-6191C= (n.1378-6191C=)
c.1488C= (p.Leu496=)
c.1005C= (p.Leu335=)
c.900C= (p.Leu300=)
3g.122275922C>GCA435424954CASRc.1378-6191C>G (n.1378-6191C>G)
c.1488C>G (p.Leu496=)
c.1005C>G (p.Leu335=)
c.900C>G (p.Leu300=)
 dbSNP gnomAD v3 gnomAD v4
3g.122275922C>TCA435424953CASRc.1378-6191C>T (n.1378-6191C>T)
c.1488C>T (p.Leu496=)
c.1005C>T (p.Leu335=)
c.900C>T (p.Leu300=)
 ClinVar gnomAD v4
3g.122275923T>ACA354155208CASRc.1378-6190T>A (n.1378-6190T>A)
c.1489T>A (p.Ser497Thr)
c.1006T>A (p.Ser336Thr)
c.901T>A (p.Ser301Thr)
3g.122275923T>CCA354155209CASRc.1378-6190T>C (n.1378-6190T>C)
c.1489T>C (p.Ser497Pro)
c.1006T>C (p.Ser336Pro)
c.901T>C (p.Ser301Pro)
3g.122275923T>GCA354155210CASRc.1378-6190T>G (n.1378-6190T>G)
c.1489T>G (p.Ser497Ala)
c.1006T>G (p.Ser336Ala)
c.901T>G (p.Ser301Ala)
 ClinVar
3g.122275924C>ACA354155211CASRc.1378-6189C>A (n.1378-6189C>A)
c.1490C>A (p.Ser497Tyr)
c.1007C>A (p.Ser336Tyr)
c.902C>A (p.Ser301Tyr)
 ClinVar
3g.122275924C>GCA354155212CASRc.1378-6189C>G (n.1378-6189C>G)
c.1490C>G (p.Ser497Cys)
c.1007C>G (p.Ser336Cys)
c.902C>G (p.Ser301Cys)
3g.122275924C>TCA354155213CASRc.1378-6189C>T (n.1378-6189C>T)
c.1490C>T (p.Ser497Phe)
c.1007C>T (p.Ser336Phe)
c.902C>T (p.Ser301Phe)
 gnomAD v4
3g.122275925C>ACA435424959CASRc.1378-6188C>A (n.1378-6188C>A)
c.1491C>A (p.Ser497=)
c.1008C>A (p.Ser336=)
c.903C>A (p.Ser301=)
 ClinVar dbSNP
3g.122275925C=CA1397883138CASRc.1378-6188C= (n.1378-6188C=)
c.1491C= (p.Ser497=)
c.1008C= (p.Ser336=)
c.903C= (p.Ser301=)
3g.122275925C>GCA435424960CASRc.1378-6188C>G (n.1378-6188C>G)
c.1491C>G (p.Ser497=)
c.1008C>G (p.Ser336=)
c.903C>G (p.Ser301=)
3g.122275925C>TCA2569667CASRc.1378-6188C>T (n.1378-6188C>T)
c.1491C>T (p.Ser497=)
c.1008C>T (p.Ser336=)
c.903C>T (p.Ser301=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122275926C>ACA354155215CASRc.1378-6187C>A (n.1378-6187C>A)
c.1492C>A (p.Pro498Thr)
c.1009C>A (p.Pro337Thr)
c.904C>A (p.Pro302Thr)
3g.122275926C>GCA354155214CASRc.1378-6187C>G (n.1378-6187C>G)
c.1492C>G (p.Pro498Ala)
c.1009C>G (p.Pro337Ala)
c.904C>G (p.Pro302Ala)
 gnomAD v4
3g.122275926C>TCA354155216CASRc.1378-6187C>T (n.1378-6187C>T)
c.1492C>T (p.Pro498Ser)
c.1009C>T (p.Pro337Ser)
c.904C>T (p.Pro302Ser)
3g.122275927C>ACA354155217CASRc.1378-6186C>A (n.1378-6186C>A)
c.1493C>A (p.Pro498Gln)
c.1010C>A (p.Pro337Gln)
c.905C>A (p.Pro302Gln)
 ClinVar gnomAD v4
3g.122275927C>GCA354155218CASRc.1378-6186C>G (n.1378-6186C>G)
c.1493C>G (p.Pro498Arg)
c.1010C>G (p.Pro337Arg)
c.905C>G (p.Pro302Arg)
3g.122275927C>TCA354155219CASRc.1378-6186C>T (n.1378-6186C>T)
c.1493C>T (p.Pro498Leu)
c.1010C>T (p.Pro337Leu)
c.905C>T (p.Pro302Leu)
 COSMIC
3g.122275928A>CCA435424962CASRc.1378-6185A>C (n.1378-6185A>C)
c.1494A>C (p.Pro498=)
c.1011A>C (p.Pro337=)
c.906A>C (p.Pro302=)
3g.122275928A>GCA435424963CASRc.1378-6185A>G (n.1378-6185A>G)
c.1494A>G (p.Pro498=)
c.1011A>G (p.Pro337=)
c.906A>G (p.Pro302=)
3g.122275928A>TCA435424964CASRc.1378-6185A>T (n.1378-6185A>T)
c.1494A>T (p.Pro498=)
c.1011A>T (p.Pro337=)
c.906A>T (p.Pro302=)
3g.122275929G>ACA354155220CASRc.1378-6184G>A (n.1378-6184G>A)
c.1495G>A (p.Glu499Lys)
c.1012G>A (p.Glu338Lys)
c.907G>A (p.Glu303Lys)
 ClinVar dbSNP
3g.122275929G>CCA354155221CASRc.1378-6184G>C (n.1378-6184G>C)
c.1495G>C (p.Glu499Gln)
c.1012G>C (p.Glu338Gln)
c.907G>C (p.Glu303Gln)
3g.122275929G>TCA354155222CASRc.1378-6184G>T (n.1378-6184G>T)
c.1495G>T (p.Glu499Ter)
c.1012G>T (p.Glu338Ter)
c.907G>T (p.Glu303Ter)
3g.122275930A=CA1397883139CASRc.1378-6183A= (n.1378-6183A=)
c.1496A= (p.Glu499=)
c.1013A= (p.Glu338=)
c.908A= (p.Glu303=)
3g.122275930A>CCA354155225CASRc.1378-6183A>C (n.1378-6183A>C)
c.1496A>C (p.Glu499Ala)
c.1013A>C (p.Glu338Ala)
c.908A>C (p.Glu303Ala)
 ClinVar dbSNP
3g.122275930A>GCA354155223CASRc.1378-6183A>G (n.1378-6183A>G)
c.1496A>G (p.Glu499Gly)
c.1013A>G (p.Glu338Gly)
c.908A>G (p.Glu303Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122275930A>TCA354155224CASRc.1378-6183A>T (n.1378-6183A>T)
c.1496A>T (p.Glu499Val)
c.1013A>T (p.Glu338Val)
c.908A>T (p.Glu303Val)
3g.122275931G>ACA435424968CASRc.1378-6182G>A (n.1378-6182G>A)
c.1497G>A (p.Glu499=)
c.1014G>A (p.Glu338=)
c.909G>A (p.Glu303=)
3g.122275931G>CCA354155226CASRc.1378-6182G>C (n.1378-6182G>C)
c.1497G>C (p.Glu499Asp)
c.1014G>C (p.Glu338Asp)
c.909G>C (p.Glu303Asp)
 ClinVar dbSNP gnomAD v4
3g.122275931G=CA1397883140CASRc.1378-6182G= (n.1378-6182G=)
c.1497G= (p.Glu499=)
c.1014G= (p.Glu338=)
c.909G= (p.Glu303=)
3g.122275931G>TCA354155227CASRc.1378-6182G>T (n.1378-6182G>T)
c.1497G>T (p.Glu499Asp)
c.1014G>T (p.Glu338Asp)
c.909G>T (p.Glu303Asp)
3g.122275932G>ACA354155228CASRc.1378-6181G>A (n.1378-6181G>A)
c.1498G>A (p.Asp500Asn)
c.1015G>A (p.Asp339Asn)
c.910G>A (p.Asp304Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.122275932G>CCA354155229CASRc.1378-6181G>C (n.1378-6181G>C)
c.1498G>C (p.Asp500His)
c.1015G>C (p.Asp339His)
c.910G>C (p.Asp304His)
3g.122275932G=CA1397883141CASRc.1378-6181G= (n.1378-6181G=)
c.1498G= (p.Asp500=)
c.1015G= (p.Asp339=)
c.910G= (p.Asp304=)
3g.122275932G>TCA354155230CASRc.1378-6181G>T (n.1378-6181G>T)
c.1498G>T (p.Asp500Tyr)
c.1015G>T (p.Asp339Tyr)
c.910G>T (p.Asp304Tyr)
 gnomAD v4
3g.122275933A>CCA354155231CASRc.1378-6180A>C (n.1378-6180A>C)
c.1499A>C (p.Asp500Ala)
c.1016A>C (p.Asp339Ala)
c.911A>C (p.Asp304Ala)
3g.122275933A>GCA354155233CASRc.1378-6180A>G (n.1378-6180A>G)
c.1499A>G (p.Asp500Gly)
c.1016A>G (p.Asp339Gly)
c.911A>G (p.Asp304Gly)
3g.122275933A>TCA354155232CASRc.1378-6180A>T (n.1378-6180A>T)
c.1499A>T (p.Asp500Val)
c.1016A>T (p.Asp339Val)
c.911A>T (p.Asp304Val)
3g.122275934T>ACA82745972CASRc.1378-6179T>A (n.1378-6179T>A)
c.1500T>A (p.Asp500Glu)
c.1017T>A (p.Asp339Glu)
c.912T>A (p.Asp304Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122275934T>CCA435424975CASRc.1378-6179T>C (n.1378-6179T>C)
c.1500T>C (p.Asp500=)
c.1017T>C (p.Asp339=)
c.912T>C (p.Asp304=)
 gnomAD v4
3g.122275934T>GCA354155234CASRc.1378-6179T>G (n.1378-6179T>G)
c.1500T>G (p.Asp500Glu)
c.1017T>G (p.Asp339Glu)
c.912T>G (p.Asp304Glu)
3g.122275934T=CA1397883142CASRc.1378-6179T= (n.1378-6179T=)
c.1500T= (p.Asp500=)
c.1017T= (p.Asp339=)
c.912T= (p.Asp304=)
3g.122275935G>ACA354155235CASRc.1378-6178G>A (n.1378-6178G>A)
c.1501G>A (p.Gly501Ser)
c.1018G>A (p.Gly340Ser)
c.913G>A (p.Gly305Ser)
3g.122275935G>CCA354155236CASRc.1378-6178G>C (n.1378-6178G>C)
c.1501G>C (p.Gly501Arg)
c.1018G>C (p.Gly340Arg)
c.913G>C (p.Gly305Arg)
3g.122275935G>TCA354155237CASRc.1378-6178G>T (n.1378-6178G>T)
c.1501G>T (p.Gly501Cys)
c.1018G>T (p.Gly340Cys)
c.913G>T (p.Gly305Cys)
3g.122275936G>ACA354155238CASRc.1378-6177G>A (n.1378-6177G>A)
c.1502G>A (p.Gly501Asp)
c.1019G>A (p.Gly340Asp)
c.914G>A (p.Gly305Asp)
3g.122275936G>CCA354155239CASRc.1378-6177G>C (n.1378-6177G>C)
c.1502G>C (p.Gly501Ala)
c.1019G>C (p.Gly340Ala)
c.914G>C (p.Gly305Ala)
 ClinVar
3g.122275936G>TCA354155240CASRc.1378-6177G>T (n.1378-6177G>T)
c.1502G>T (p.Gly501Val)
c.1019G>T (p.Gly340Val)
c.914G>T (p.Gly305Val)
3g.122275937C>ACA435424980CASRc.1378-6176C>A (n.1378-6176C>A)
c.1503C>A (p.Gly501=)
c.1020C>A (p.Gly340=)
c.915C>A (p.Gly305=)
 dbSNP gnomAD v3 gnomAD v4
3g.122275937C=CA1397883143CASRc.1378-6176C= (n.1378-6176C=)
c.1503C= (p.Gly501=)
c.1020C= (p.Gly340=)
c.915C= (p.Gly305=)
3g.122275937C>GCA435424981CASRc.1378-6176C>G (n.1378-6176C>G)
c.1503C>G (p.Gly501=)
c.1020C>G (p.Gly340=)
c.915C>G (p.Gly305=)
3g.122275937C>TCA435424982CASRc.1378-6176C>T (n.1378-6176C>T)
c.1503C>T (p.Gly501=)
c.1020C>T (p.Gly340=)
c.915C>T (p.Gly305=)
 gnomAD v4
3g.122275938T>ACA354155241CASRc.1378-6175T>A (n.1378-6175T>A)
c.1504T>A (p.Ser502Thr)
c.1021T>A (p.Ser341Thr)
c.916T>A (p.Ser306Thr)
3g.122275938T>CCA354155242CASRc.1378-6175T>C (n.1378-6175T>C)
c.1504T>C (p.Ser502Pro)
c.1021T>C (p.Ser341Pro)
c.916T>C (p.Ser306Pro)
 dbSNP gnomAD v2
3g.122275938T>GCA354155243CASRc.1378-6175T>G (n.1378-6175T>G)
c.1504T>G (p.Ser502Ala)
c.1021T>G (p.Ser341Ala)
c.916T>G (p.Ser306Ala)
3g.122275938T=CA1397883144CASRc.1378-6175T= (n.1378-6175T=)
c.1504T= (p.Ser502=)
c.1021T= (p.Ser341=)
c.916T= (p.Ser306=)
3g.122275939C>ACA354155244CASRc.1378-6174C>A (n.1378-6174C>A)
c.1505C>A (p.Ser502Tyr)
c.1022C>A (p.Ser341Tyr)
c.917C>A (p.Ser306Tyr)
3g.122275939C=CA1397883145CASRc.1378-6174C= (n.1378-6174C=)
c.1505C= (p.Ser502=)
c.1022C= (p.Ser341=)
c.917C= (p.Ser306=)
3g.122275939C>GCA354155246CASRc.1378-6174C>G (n.1378-6174C>G)
c.1505C>G (p.Ser502Cys)
c.1022C>G (p.Ser341Cys)
c.917C>G (p.Ser306Cys)
3g.122275939C>TCA354155245CASRc.1378-6174C>T (n.1378-6174C>T)
c.1505C>T (p.Ser502Phe)
c.1022C>T (p.Ser341Phe)
c.917C>T (p.Ser306Phe)
 ClinVar dbSNP
3g.122275940C>ACA435424989CASRc.1378-6173C>A (n.1378-6173C>A)
c.1506C>A (p.Ser502=)
c.1023C>A (p.Ser341=)
c.918C>A (p.Ser306=)
 ClinVar dbSNP gnomAD v4
3g.122275940C=CA1397883146CASRc.1378-6173C= (n.1378-6173C=)
c.1506C= (p.Ser502=)
c.1023C= (p.Ser341=)
c.918C= (p.Ser306=)
3g.122275940C>GCA435424991CASRc.1378-6173C>G (n.1378-6173C>G)
c.1506C>G (p.Ser502=)
c.1023C>G (p.Ser341=)
c.918C>G (p.Ser306=)
3g.122275940C>TCA435424995CASRc.1378-6173C>T (n.1378-6173C>T)
c.1506C>T (p.Ser502=)
c.1023C>T (p.Ser341=)
c.918C>T (p.Ser306=)
 ClinVar dbSNP
3g.122275941delCA2580068796CASRc.1378-6172del (n.1378-6172del)
c.1507del (p.Ile503SerfsTer?)
c.1024del (p.Ile342SerfsTer?)
c.919del (p.Ile307SerfsTer?)
 ClinVar
3g.122275941A=CA1397883147CASRc.1378-6172A= (n.1378-6172A=)
c.1507A= (p.Ile503=)
c.1024A= (p.Ile342=)
c.919A= (p.Ile307=)
3g.122275941A>CCA354155247CASRc.1378-6172A>C (n.1378-6172A>C)
c.1507A>C (p.Ile503Leu)
c.1024A>C (p.Ile342Leu)
c.919A>C (p.Ile307Leu)
3g.122275941A>GCA2569668CASRc.1378-6172A>G (n.1378-6172A>G)
c.1507A>G (p.Ile503Val)
c.1024A>G (p.Ile342Val)
c.919A>G (p.Ile307Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122275941A>TCA354155248CASRc.1378-6172A>T (n.1378-6172A>T)
c.1507A>T (p.Ile503Phe)
c.1024A>T (p.Ile342Phe)
c.919A>T (p.Ile307Phe)
3g.122275942T>ACA354155249CASRc.1378-6171T>A (n.1378-6171T>A)
c.1508T>A (p.Ile503Asn)
c.1025T>A (p.Ile342Asn)
c.920T>A (p.Ile307Asn)
3g.122275942T>CCA354155250CASRc.1378-6171T>C (n.1378-6171T>C)
c.1508T>C (p.Ile503Thr)
c.1025T>C (p.Ile342Thr)
c.920T>C (p.Ile307Thr)
3g.122275942T>GCA354155251CASRc.1378-6171T>G (n.1378-6171T>G)
c.1508T>G (p.Ile503Ser)
c.1025T>G (p.Ile342Ser)
c.920T>G (p.Ile307Ser)
3g.122275943C>ACA435424998CASRc.1378-6170C>A (n.1378-6170C>A)
c.1509C>A (p.Ile503=)
c.1026C>A (p.Ile342=)
c.921C>A (p.Ile307=)
3g.122275943C=CA1397883148CASRc.1378-6170C= (n.1378-6170C=)
c.1509C= (p.Ile503=)
c.1026C= (p.Ile342=)
c.921C= (p.Ile307=)
3g.122275943C>GCA354155252CASRc.1378-6170C>G (n.1378-6170C>G)
c.1509C>G (p.Ile503Met)
c.1026C>G (p.Ile342Met)
c.921C>G (p.Ile307Met)
 ClinVar dbSNP
3g.122275943C>TCA2569669CASRc.1378-6170C>T (n.1378-6170C>T)
c.1509C>T (p.Ile503=)
c.1026C>T (p.Ile342=)
c.921C>T (p.Ile307=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.122275944G>ACA2569670CASRc.1378-6169G>A (n.1378-6169G>A)
c.1510G>A (p.Val504Met)
c.1027G>A (p.Val343Met)
c.922G>A (p.Val308Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122275944G>CCA354155253CASRc.1378-6169G>C (n.1378-6169G>C)
c.1510G>C (p.Val504Leu)
c.1027G>C (p.Val343Leu)
c.922G>C (p.Val308Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122275944G=CA1397883150CASRc.1378-6169G= (n.1378-6169G=)
c.1510G= (p.Val504=)
c.1027G= (p.Val343=)
c.922G= (p.Val308=)
3g.122275944G>TCA354155254CASRc.1378-6169G>T (n.1378-6169G>T)
c.1510G>T (p.Val504Leu)
c.1027G>T (p.Val343Leu)
c.922G>T (p.Val308Leu)
 dbSNP gnomAD v4
3g.122275944_122275948delinsGTGTTCA1397883149CASRc.1378-6169_1378-6165delinsGTGTT (n.1378-6169_1378-6165delinsGTGTT)
c.1510_1514delinsGTGTT (p.Val504=)
c.1027_1031delinsGTGTT (p.Val343=)
c.922_926delinsGTGTT (p.Val308=)
3g.122275945T>ACA354155257CASRc.1378-6168T>A (n.1378-6168T>A)
c.1511T>A (p.Val504Glu)
c.1028T>A (p.Val343Glu)
c.923T>A (p.Val308Glu)
3g.122275945T>CCA354155256CASRc.1378-6168T>C (n.1378-6168T>C)
c.1511T>C (p.Val504Ala)
c.1028T>C (p.Val343Ala)
c.923T>C (p.Val308Ala)
3g.122275945T>GCA354155255CASRc.1378-6168T>G (n.1378-6168T>G)
c.1511T>G (p.Val504Gly)
c.1028T>G (p.Val343Gly)
c.923T>G (p.Val308Gly)
3g.122275946_122275949delCA213563CASRc.1378-6167_1378-6164del (n.1378-6167_1378-6164del)
c.1512_1515del (p.Phe505ArgfsTer?)
c.1029_1032del (p.Phe344ArgfsTer?)
c.924_927del (p.Phe309ArgfsTer?)
 ClinVar dbSNP
3g.122275946G>ACA435425008CASRc.1378-6167G>A (n.1378-6167G>A)
c.1512G>A (p.Val504=)
c.1029G>A (p.Val343=)
c.924G>A (p.Val308=)
 ClinVar dbSNP gnomAD v4
3g.122275946G>CCA435425005CASRc.1378-6167G>C (n.1378-6167G>C)
c.1512G>C (p.Val504=)
c.1029G>C (p.Val343=)
c.924G>C (p.Val308=)
3g.122275946G=CA1397883151CASRc.1378-6167G= (n.1378-6167G=)
c.1512G= (p.Val504=)
c.1029G= (p.Val343=)
c.924G= (p.Val308=)
3g.122275946G>TCA435425004CASRc.1378-6167G>T (n.1378-6167G>T)
c.1512G>T (p.Val504=)
c.1029G>T (p.Val343=)
c.924G>T (p.Val308=)
3g.122275947T>ACA354155258CASRc.1378-6166T>A (n.1378-6166T>A)
c.1513T>A (p.Phe505Ile)
c.1030T>A (p.Phe344Ile)
c.925T>A (p.Phe309Ile)
3g.122275947T>CCA354155259CASRc.1378-6166T>C (n.1378-6166T>C)
c.1513T>C (p.Phe505Leu)
c.1030T>C (p.Phe344Leu)
c.925T>C (p.Phe309Leu)
 ClinVar dbSNP gnomAD v4
3g.122275947T>GCA354155260CASRc.1378-6166T>G (n.1378-6166T>G)
c.1513T>G (p.Phe505Val)
c.1030T>G (p.Phe344Val)
c.925T>G (p.Phe309Val)
3g.122275948T>ACA354155261CASRc.1378-6165T>A (n.1378-6165T>A)
c.1514T>A (p.Phe505Tyr)
c.1031T>A (p.Phe344Tyr)
c.926T>A (p.Phe309Tyr)
3g.122275948T>CCA354155262CASRc.1378-6165T>C (n.1378-6165T>C)
c.1514T>C (p.Phe505Ser)
c.1031T>C (p.Phe344Ser)
c.926T>C (p.Phe309Ser)
3g.122275948T>GCA354155263CASRc.1378-6165T>G (n.1378-6165T>G)
c.1514T>G (p.Phe505Cys)
c.1031T>G (p.Phe344Cys)
c.926T>G (p.Phe309Cys)
3g.122275949T>ACA354155264CASRc.1378-6164T>A (n.1378-6164T>A)
c.1515T>A (p.Phe505Leu)
c.1032T>A (p.Phe344Leu)
c.927T>A (p.Phe309Leu)
3g.122275949T>CCA435425014CASRc.1378-6164T>C (n.1378-6164T>C)
c.1515T>C (p.Phe505=)
c.1032T>C (p.Phe344=)
c.927T>C (p.Phe309=)
 ClinVar
3g.122275949T>GCA354155265CASRc.1378-6164T>G (n.1378-6164T>G)
c.1515T>G (p.Phe505Leu)
c.1032T>G (p.Phe344Leu)
c.927T>G (p.Phe309Leu)

Number of alleles fetched