Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94029488A=CA1181414563ABCA4c.4496T= (p.Leu1499=)
c.872T= (p.Leu291=)
1g.94029488A>CCA341284843ABCA4c.4496T>G (p.Leu1499Arg)
c.872T>G (p.Leu291Arg)
1g.94029488A>GCA341284844ABCA4c.4496T>C (p.Leu1499Pro)
c.872T>C (p.Leu291Pro)
1g.94029488A>TCA341284846ABCA4c.4496T>A (p.Leu1499Gln)
c.872T>A (p.Leu291Gln)
 dbSNP
1g.94029489G>ACA418824312ABCA4c.4495C>T (p.Leu1499=)
c.871C>T (p.Leu291=)
1g.94029489G>CCA341284847ABCA4c.4495C>G (p.Leu1499Val)
c.871C>G (p.Leu291Val)
1g.94029489G>TCA341284848ABCA4c.4495C>A (p.Leu1499Met)
c.871C>A (p.Leu291Met)
1g.94029490C>ACA341284849ABCA4c.4494G>T (p.Met1498Ile)
c.870G>T (p.Met290Ile)
1g.94029490C>GCA341284850ABCA4c.4494G>C (p.Met1498Ile)
c.870G>C (p.Met290Ile)
1g.94029490C>TCA341284852ABCA4c.4494G>A (p.Met1498Ile)
c.870G>A (p.Met290Ile)
1g.94029491A>CCA341284856ABCA4c.4493T>G (p.Met1498Arg)
c.869T>G (p.Met290Arg)
1g.94029491A>GCA341284855ABCA4c.4493T>C (p.Met1498Thr)
c.869T>C (p.Met290Thr)
1g.94029491A>TCA341284854ABCA4c.4493T>A (p.Met1498Lys)
c.869T>A (p.Met290Lys)
1g.94029492T>ACA341284858ABCA4c.4492A>T (p.Met1498Leu)
c.868A>T (p.Met290Leu)
1g.94029492T>CCA341284861ABCA4c.4492A>G (p.Met1498Val)
c.868A>G (p.Met290Val)
1g.94029492T>GCA341284859ABCA4c.4492A>C (p.Met1498Leu)
c.868A>C (p.Met290Leu)
1g.94029493G>ACA418824329ABCA4c.4491C>T (p.Thr1497=)
c.867C>T (p.Thr289=)
1g.94029493G>CCA418824330ABCA4c.4491C>G (p.Thr1497=)
c.867C>G (p.Thr289=)
 ClinVar dbSNP
1g.94029493G>TCA418824332ABCA4c.4491C>A (p.Thr1497=)
c.867C>A (p.Thr289=)
 gnomAD v4
1g.94029494G>ACA341284862ABCA4c.4490C>T (p.Thr1497Ile)
c.866C>T (p.Thr289Ile)
1g.94029494G>CCA341284864ABCA4c.4490C>G (p.Thr1497Ser)
c.866C>G (p.Thr289Ser)
1g.94029494G>TCA341284865ABCA4c.4490C>A (p.Thr1497Asn)
c.866C>A (p.Thr289Asn)
1g.94029495T>ACA341284867ABCA4c.4489A>T (p.Thr1497Ser)
c.865A>T (p.Thr289Ser)
 COSMIC
1g.94029495T>CCA341284869ABCA4c.4489A>G (p.Thr1497Ala)
c.865A>G (p.Thr289Ala)
1g.94029495T>GCA341284870ABCA4c.4489A>C (p.Thr1497Pro)
c.865A>C (p.Thr289Pro)
 gnomAD v4
1g.94029496G>ACA418824343ABCA4c.4488C>T (p.Leu1496=)
c.864C>T (p.Leu288=)
 gnomAD v4
1g.94029496G>CCA418824344ABCA4c.4488C>G (p.Leu1496=)
c.864C>G (p.Leu288=)
1g.94029496G>TCA418824342ABCA4c.4488C>A (p.Leu1496=)
c.864C>A (p.Leu288=)
1g.94029497A>CCA341284873ABCA4c.4487T>G (p.Leu1496Arg)
c.863T>G (p.Leu288Arg)
1g.94029497A>GCA341284874ABCA4c.4487T>C (p.Leu1496Pro)
c.863T>C (p.Leu288Pro)
 gnomAD v4
1g.94029497A>TCA341284875ABCA4c.4487T>A (p.Leu1496His)
c.863T>A (p.Leu288His)
1g.94029498G>ACA341284876ABCA4c.4486C>T (p.Leu1496Phe)
c.862C>T (p.Leu288Phe)
1g.94029498G>CCA341284877ABCA4c.4486C>G (p.Leu1496Val)
c.862C>G (p.Leu288Val)
1g.94029498G=CA1181414564ABCA4c.4486C= (p.Leu1496=)
c.862C= (p.Leu288=)
1g.94029498G>TCA341284879ABCA4c.4486C>A (p.Leu1496Ile)
c.862C>A (p.Leu288Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94029499C>ACA341284880ABCA4c.4485G>T (p.Lys1495Asn)
c.861G>T (p.Lys287Asn)
1g.94029499C>GCA341284882ABCA4c.4485G>C (p.Lys1495Asn)
c.861G>C (p.Lys287Asn)
1g.94029499C>TCA418824352ABCA4c.4485G>A (p.Lys1495=)
c.861G>A (p.Lys287=)
1g.94029499_94029500delCA2697552518ABCA4c.4484_4485del (p.Lys1495ThrfsTer?)
c.860_861del (p.Lys287ThrfsTer?)
 ClinVar
1g.94029500T>ACA341284883ABCA4c.4484A>T (p.Lys1495Met)
c.860A>T (p.Lys287Met)
1g.94029500T>CCA341284885ABCA4c.4484A>G (p.Lys1495Arg)
c.860A>G (p.Lys287Arg)
1g.94029500T>GCA341284886ABCA4c.4484A>C (p.Lys1495Thr)
c.860A>C (p.Lys287Thr)
1g.94029501T>ACA341284888ABCA4c.4483A>T (p.Lys1495Ter)
c.859A>T (p.Lys287Ter)
1g.94029501T>CCA341284890ABCA4c.4483A>G (p.Lys1495Glu)
c.859A>G (p.Lys287Glu)
1g.94029501T>GCA341284892ABCA4c.4483A>C (p.Lys1495Gln)
c.859A>C (p.Lys287Gln)
1g.94029502C>ACA341284893ABCA4c.4482G>T (p.Glu1494Asp)
c.858G>T (p.Glu286Asp)
1g.94029502C>GCA341284895ABCA4c.4482G>C (p.Glu1494Asp)
c.858G>C (p.Glu286Asp)
1g.94029502C>TCA418824375ABCA4c.4482G>A (p.Glu1494=)
c.858G>A (p.Glu286=)
1g.94029503T>ACA341284897ABCA4c.4481A>T (p.Glu1494Val)
c.857A>T (p.Glu286Val)
1g.94029503T>CCA341284898ABCA4c.4481A>G (p.Glu1494Gly)
c.857A>G (p.Glu286Gly)
 dbSNP gnomAD v4
1g.94029503T>GCA341284900ABCA4c.4481A>C (p.Glu1494Ala)
c.857A>C (p.Glu286Ala)
1g.94029503T=CA1181414565ABCA4c.4481A= (p.Glu1494=)
c.857A= (p.Glu286=)
1g.94029504C>ACA341284902ABCA4c.4480G>T (p.Glu1494Ter)
c.856G>T (p.Glu286Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.94029504C=CA1148236467ABCA4c.4480G= (p.Glu1494=)
c.856G= (p.Glu286=)
1g.94029504C>GCA341284903ABCA4c.4480G>C (p.Glu1494Gln)
c.856G>C (p.Glu286Gln)
1g.94029504C>TCA26853503ABCA4c.4480G>A (p.Glu1494Lys)
c.856G>A (p.Glu286Lys)
 ClinVar dbSNP gnomAD v4
1g.94029505C>ACA341284905ABCA4c.4479G>T (p.Arg1493Ser)
c.855G>T (p.Arg285Ser)
1g.94029505C=CA1143398976ABCA4c.4479G= (p.Arg1493=)
c.855G= (p.Arg285=)
1g.94029505C>GCA26853506ABCA4c.4479G>C (p.Arg1493Ser)
c.855G>C (p.Arg285Ser)
 dbSNP gnomAD v4
1g.94029505C>TCA957597ABCA4c.4479G>A (p.Arg1493=)
c.855G>A (p.Arg285=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94029506C>ACA341284907ABCA4c.4478G>T (p.Arg1493Met)
c.854G>T (p.Arg285Met)
 gnomAD v4
1g.94029506C=CA1181414566ABCA4c.4478G= (p.Arg1493=)
c.854G= (p.Arg285=)
1g.94029506C>GCA341284909ABCA4c.4478G>C (p.Arg1493Thr)
c.854G>C (p.Arg285Thr)
1g.94029506C>TCA341284910ABCA4c.4478G>A (p.Arg1493Lys)
c.854G>A (p.Arg285Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.94029507T>ACA341284912ABCA4c.4477A>T (p.Arg1493Trp)
c.853A>T (p.Arg285Trp)
1g.94029507T>CCA957598ABCA4c.4477A>G (p.Arg1493Gly)
c.853A>G (p.Arg285Gly)
 dbSNP ExAC gnomAD v2
1g.94029507T>GCA418824397ABCA4c.4477A>C (p.Arg1493=)
c.853A>C (p.Arg285=)
1g.94029507T=CA1181414567ABCA4c.4477A= (p.Arg1493=)
c.853A= (p.Arg285=)
1g.94029508G>ACA418824398ABCA4c.4476C>T (p.Thr1492=)
c.852C>T (p.Thr284=)
1g.94029508G>CCA418824400ABCA4c.4476C>G (p.Thr1492=)
c.852C>G (p.Thr284=)
1g.94029508G>TCA418824402ABCA4c.4476C>A (p.Thr1492=)
c.852C>A (p.Thr284=)
1g.94029509G>ACA341284914ABCA4c.4475C>T (p.Thr1492Ile)
c.851C>T (p.Thr284Ile)
 dbSNP gnomAD v4
1g.94029509G>CCA341284915ABCA4c.4475C>G (p.Thr1492Ser)
c.851C>G (p.Thr284Ser)
1g.94029509G=CA1181414568ABCA4c.4475C= (p.Thr1492=)
c.851C= (p.Thr284=)
1g.94029509G>TCA341284916ABCA4c.4475C>A (p.Thr1492Asn)
c.851C>A (p.Thr284Asn)
1g.94029510T>ACA341284918ABCA4c.4474A>T (p.Thr1492Ser)
c.850A>T (p.Thr284Ser)
1g.94029510T>CCA341284919ABCA4c.4474A>G (p.Thr1492Ala)
c.850A>G (p.Thr284Ala)
1g.94029510T>GCA341284921ABCA4c.4474A>C (p.Thr1492Pro)
c.850A>C (p.Thr284Pro)
1g.94029511G>ACA418824414ABCA4c.4473C>T (p.Ser1491=)
c.849C>T (p.Ser283=)
1g.94029511G>CCA341284922ABCA4c.4473C>G (p.Ser1491Arg)
c.849C>G (p.Ser283Arg)
1g.94029511G>TCA341284924ABCA4c.4473C>A (p.Ser1491Arg)
c.849C>A (p.Ser283Arg)
1g.94029512C>ACA341284925ABCA4c.4472G>T (p.Ser1491Ile)
c.848G>T (p.Ser283Ile)
1g.94029512C>GCA341284927ABCA4c.4472G>C (p.Ser1491Thr)
c.848G>C (p.Ser283Thr)
1g.94029512C>TCA341284929ABCA4c.4472G>A (p.Ser1491Asn)
c.848G>A (p.Ser283Asn)
 gnomAD v4
1g.94029513T>ACA341284931ABCA4c.4471A>T (p.Ser1491Cys)
c.847A>T (p.Ser283Cys)
1g.94029513T>CCA341284932ABCA4c.4471A>G (p.Ser1491Gly)
c.847A>G (p.Ser283Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94029513T>GCA341284933ABCA4c.4471A>C (p.Ser1491Arg)
c.847A>C (p.Ser283Arg)
1g.94029513T=CA1181414569ABCA4c.4471A= (p.Ser1491=)
c.847A= (p.Ser283=)
1g.94029514G>ACA418824431ABCA4c.4470C>T (p.Cys1490=)
c.846C>T (p.Cys282=)
1g.94029514G>CCA341284935ABCA4c.4470C>G (p.Cys1490Trp)
c.846C>G (p.Cys282Trp)
1g.94029514G>TCA341284936ABCA4c.4470C>A (p.Cys1490Ter)
c.846C>A (p.Cys282Ter)
1g.94029515C>ACA341284938ABCA4c.4469G>T (p.Cys1490Phe)
c.845G>T (p.Cys282Phe)
1g.94029515C=CA1140726091ABCA4c.4469G= (p.Cys1490=)
c.845G= (p.Cys282=)
1g.94029515C>GCA341284940ABCA4c.4469G>C (p.Cys1490Ser)
c.845G>C (p.Cys282Ser)
1g.94029515C>TCA227198ABCA4c.4469G>A (p.Cys1490Tyr)
c.845G>A (p.Cys282Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029516_94029517dupCA2573131931ABCA4c.4468_4469dup (p.Ser1491AlafsTer?)
c.844_845dup (p.Ser283AlafsTer?)
 ClinVar dbSNP
1g.94029516A=CA1140726103ABCA4c.4468T= (p.Cys1490=)
c.844T= (p.Cys282=)
1g.94029516A>CCA341284942ABCA4c.4468T>G (p.Cys1490Gly)
c.844T>G (p.Cys282Gly)
 ClinVar dbSNP
1g.94029516A>GCA26853524ABCA4c.4468T>C (p.Cys1490Arg)
c.844T>C (p.Cys282Arg)
 ClinVar dbSNP gnomAD v4
1g.94029516A>TCA227196ABCA4c.4468T>A (p.Cys1490Ser)
c.844T>A (p.Cys282Ser)
 ClinVar dbSNP
1g.94029517C>ACA957599ABCA4c.4467G>T (p.Arg1489Ser)
c.843G>T (p.Arg281Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029517C=CA1141774470ABCA4c.4467G= (p.Arg1489=)
c.843G= (p.Arg281=)
1g.94029517C>GCA341284945ABCA4c.4467G>C (p.Arg1489Ser)
c.843G>C (p.Arg281Ser)
1g.94029517C>TCA418824448ABCA4c.4467G>A (p.Arg1489=)
c.843G>A (p.Arg281=)
 ClinVar gnomAD v4
1g.94029518C>ACA341284947ABCA4c.4466G>T (p.Arg1489Met)
c.842G>T (p.Arg281Met)
1g.94029518C=CA1181414570ABCA4c.4466G= (p.Arg1489=)
c.842G= (p.Arg281=)
1g.94029518C>GCA341284950ABCA4c.4466G>C (p.Arg1489Thr)
c.842G>C (p.Arg281Thr)
 COSMIC
1g.94029518C>TCA957600ABCA4c.4466G>A (p.Arg1489Lys)
c.842G>A (p.Arg281Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029519T>ACA957601ABCA4c.4465A>T (p.Arg1489Trp)
c.841A>T (p.Arg281Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94029519T>CCA341284952ABCA4c.4465A>G (p.Arg1489Gly)
c.841A>G (p.Arg281Gly)
 gnomAD v4
1g.94029519T>GCA418824472ABCA4c.4465A>C (p.Arg1489=)
c.841A>C (p.Arg281=)
1g.94029519T=CA1181414571ABCA4c.4465A= (p.Arg1489=)
c.841A= (p.Arg281=)
1g.94029520G>ACA418824477ABCA4c.4464C>T (p.Cys1488=)
c.840C>T (p.Cys280=)
 dbSNP gnomAD v2 gnomAD v4
1g.94029520G>CCA341284953ABCA4c.4464C>G (p.Cys1488Trp)
c.840C>G (p.Cys280Trp)
1g.94029520G=CA1181414572ABCA4c.4464C= (p.Cys1488=)
c.840C= (p.Cys280=)
1g.94029520G>TCA341284955ABCA4c.4464C>A (p.Cys1488Ter)
c.840C>A (p.Cys280Ter)
1g.94029521C>ACA227195ABCA4c.4463G>T (p.Cys1488Phe)
c.839G>T (p.Cys280Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029521C=CA1140726110ABCA4c.4463G= (p.Cys1488=)
c.839G= (p.Cys280=)
1g.94029521C>GCA341284956ABCA4c.4463G>C (p.Cys1488Ser)
c.839G>C (p.Cys280Ser)
1g.94029521C>TCA227194ABCA4c.4463G>A (p.Cys1488Tyr)
c.839G>A (p.Cys280Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.94029522A=CA1140726121ABCA4c.4462T= (p.Cys1488=)
c.838T= (p.Cys280=)
1g.94029522A>CCA341284958ABCA4c.4462T>G (p.Cys1488Gly)
c.838T>G (p.Cys280Gly)
1g.94029522A>GCA227193ABCA4c.4462T>C (p.Cys1488Arg)
c.838T>C (p.Cys280Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029522A>TCA341284960ABCA4c.4462T>A (p.Cys1488Ser)
c.838T>A (p.Cys280Ser)
1g.94029523G>ACA418824491ABCA4c.4461C>T (p.Ser1487=)
c.837C>T (p.Ser279=)
 ClinVar
1g.94029523G>CCA418824493ABCA4c.4461C>G (p.Ser1487=)
c.837C>G (p.Ser279=)
1g.94029523G>TCA418824494ABCA4c.4461C>A (p.Ser1487=)
c.837C>A (p.Ser279=)
1g.94029524G>ACA341284962ABCA4c.4460C>T (p.Ser1487Phe)
c.836C>T (p.Ser279Phe)
 gnomAD v4
1g.94029524G>CCA341284964ABCA4c.4460C>G (p.Ser1487Cys)
c.836C>G (p.Ser279Cys)
 ClinVar dbSNP
1g.94029524G>TCA341284965ABCA4c.4460C>A (p.Ser1487Tyr)
c.836C>A (p.Ser279Tyr)
1g.94029525A>CCA341284971ABCA4c.4459T>G (p.Ser1487Ala)
c.835T>G (p.Ser279Ala)
1g.94029525A>GCA341284969ABCA4c.4459T>C (p.Ser1487Pro)
c.835T>C (p.Ser279Pro)
1g.94029525A>TCA341284967ABCA4c.4459T>A (p.Ser1487Thr)
c.835T>A (p.Ser279Thr)
1g.94029526delCA2586966881ABCA4c.4458del (p.Ser1487ProfsTer?)
c.834del (p.Ser279ProfsTer?)
1g.94029526T>ACA418824508ABCA4c.4458A>T (p.Pro1486=)
c.834A>T (p.Pro278=)
 ClinVar dbSNP gnomAD v4
1g.94029526T>CCA957602ABCA4c.4458A>G (p.Pro1486=)
c.834A>G (p.Pro278=)
 dbSNP ExAC gnomAD v2
1g.94029526T>GCA418824511ABCA4c.4458A>C (p.Pro1486=)
c.834A>C (p.Pro278=)
 ClinVar
1g.94029526T=CA1181414573ABCA4c.4458A= (p.Pro1486=)
c.834A= (p.Pro278=)
1g.94029527G>ACA227192ABCA4c.4457C>T (p.Pro1486Leu)
c.833C>T (p.Pro278Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029527G>CCA341284974ABCA4c.4457C>G (p.Pro1486Arg)
c.833C>G (p.Pro278Arg)
1g.94029527G=CA1140726128ABCA4c.4457C= (p.Pro1486=)
c.833C= (p.Pro278=)
1g.94029527G>TCA341284975ABCA4c.4457C>A (p.Pro1486Gln)
c.833C>A (p.Pro278Gln)
1g.94029528G>ACA341284976ABCA4c.4456C>T (p.Pro1486Ser)
c.832C>T (p.Pro278Ser)
1g.94029528G>CCA341284977ABCA4c.4456C>G (p.Pro1486Ala)
c.832C>G (p.Pro278Ala)
1g.94029528G>TCA341284978ABCA4c.4456C>A (p.Pro1486Thr)
c.832C>A (p.Pro278Thr)
1g.94029529T>ACA418824523ABCA4c.4455A>T (p.Ser1485=)
c.831A>T (p.Ser277=)
 gnomAD v4
1g.94029529T>CCA418824525ABCA4c.4455A>G (p.Ser1485=)
c.831A>G (p.Ser277=)
1g.94029529T>GCA418824527ABCA4c.4455A>C (p.Ser1485=)
c.831A>C (p.Ser277=)
1g.94029530G>ACA341284980ABCA4c.4454C>T (p.Ser1485Leu)
c.830C>T (p.Ser277Leu)
 dbSNP
1g.94029530G>CCA341284982ABCA4c.4454C>G (p.Ser1485Ter)
c.830C>G (p.Ser277Ter)
1g.94029530G=CA1181414574ABCA4c.4454C= (p.Ser1485=)
c.830C= (p.Ser277=)
1g.94029530G>TCA341284983ABCA4c.4454C>A (p.Ser1485Ter)
c.830C>A (p.Ser277Ter)
1g.94029531A>CCA341284985ABCA4c.4453T>G (p.Ser1485Ala)
c.829T>G (p.Ser277Ala)
1g.94029531A>GCA341284986ABCA4c.4453T>C (p.Ser1485Pro)
c.829T>C (p.Ser277Pro)
1g.94029531A>TCA341284987ABCA4c.4453T>A (p.Ser1485Thr)
c.829T>A (p.Ser277Thr)
1g.94029532A=CA1181414575ABCA4c.4452T= (p.Pro1484=)
c.828T= (p.Pro276=)
1g.94029532A>CCA418824546ABCA4c.4452T>G (p.Pro1484=)
c.828T>G (p.Pro276=)
1g.94029532A>GCA418824547ABCA4c.4452T>C (p.Pro1484=)
c.828T>C (p.Pro276=)
 dbSNP gnomAD v3 gnomAD v4
1g.94029532A>TCA418824548ABCA4c.4452T>A (p.Pro1484=)
c.828T>A (p.Pro276=)
1g.94029533G>ACA341284992ABCA4c.4451C>T (p.Pro1484Leu)
c.827C>T (p.Pro276Leu)
1g.94029533G>CCA341284990ABCA4c.4451C>G (p.Pro1484Arg)
c.827C>G (p.Pro276Arg)
1g.94029533G>TCA341284988ABCA4c.4451C>A (p.Pro1484His)
c.827C>A (p.Pro276His)
1g.94029534G>ACA341284993ABCA4c.4450C>T (p.Pro1484Ser)
c.826C>T (p.Pro276Ser)
 dbSNP
1g.94029534G>CCA341284995ABCA4c.4450C>G (p.Pro1484Ala)
c.826C>G (p.Pro276Ala)
1g.94029534G=CA1181414576ABCA4c.4450C= (p.Pro1484=)
c.826C= (p.Pro276=)
1g.94029534G>TCA341284996ABCA4c.4450C>A (p.Pro1484Thr)
c.826C>A (p.Pro276Thr)
 dbSNP
1g.94029535G>ACA418824556ABCA4c.4449C>T (p.Asn1483=)
c.825C>T (p.Asn275=)
 ClinVar dbSNP gnomAD v4
1g.94029535G>CCA341284997ABCA4c.4449C>G (p.Asn1483Lys)
c.825C>G (p.Asn275Lys)
1g.94029535G=CA1181414577ABCA4c.4449C= (p.Asn1483=)
c.825C= (p.Asn275=)
1g.94029535G>TCA341284998ABCA4c.4449C>A (p.Asn1483Lys)
c.825C>A (p.Asn275Lys)
1g.94029536T>ACA341285003ABCA4c.4448A>T (p.Asn1483Ile)
c.824A>T (p.Asn275Ile)
1g.94029536T>CCA341285002ABCA4c.4448A>G (p.Asn1483Ser)
c.824A>G (p.Asn275Ser)
1g.94029536T>GCA341285000ABCA4c.4448A>C (p.Asn1483Thr)
c.824A>C (p.Asn275Thr)
1g.94029537T>ACA341285004ABCA4c.4447A>T (p.Asn1483Tyr)
c.823A>T (p.Asn275Tyr)
1g.94029537T>CCA341285005ABCA4c.4447A>G (p.Asn1483Asp)
c.823A>G (p.Asn275Asp)
1g.94029537T>GCA341285006ABCA4c.4447A>C (p.Asn1483His)
c.823A>C (p.Asn275His)
1g.94029538G>ACA418824590ABCA4c.4446C>T (p.Val1482=)
c.822C>T (p.Val274=)
1g.94029538G>CCA418824588ABCA4c.4446C>G (p.Val1482=)
c.822C>G (p.Val274=)
1g.94029538G=CA1181414578ABCA4c.4446C= (p.Val1482=)
c.822C= (p.Val274=)
1g.94029538G>TCA418824586ABCA4c.4446C>A (p.Val1482=)
c.822C>A (p.Val274=)
 dbSNP gnomAD v3 gnomAD v4
1g.94029539A>CCA341285007ABCA4c.4445T>G (p.Val1482Gly)
c.821T>G (p.Val274Gly)
1g.94029539A>GCA341285008ABCA4c.4445T>C (p.Val1482Ala)
c.821T>C (p.Val274Ala)
 dbSNP
1g.94029539A>TCA341285009ABCA4c.4445T>A (p.Val1482Asp)
c.821T>A (p.Val274Asp)
 gnomAD v4
1g.94029540C>ACA341285010ABCA4c.4444G>T (p.Val1482Phe)
c.820G>T (p.Val274Phe)
1g.94029540C=CA1181414579ABCA4c.4444G= (p.Val1482=)
c.820G= (p.Val274=)
1g.94029540C>GCA341285011ABCA4c.4444G>C (p.Val1482Leu)
c.820G>C (p.Val274Leu)
1g.94029540C>TCA957603ABCA4c.4444G>A (p.Val1482Ile)
c.820G>A (p.Val274Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.94029541C>ACA341285012ABCA4c.4443G>T (p.Gln1481His)
c.819G>T (p.Gln273His)
1g.94029541C=CA1181414580ABCA4c.4443G= (p.Gln1481=)
c.819G= (p.Gln273=)
1g.94029541C>GCA341285013ABCA4c.4443G>C (p.Gln1481His)
c.819G>C (p.Gln273His)
1g.94029541C>TCA418824596ABCA4c.4443G>A (p.Gln1481=)
c.819G>A (p.Gln273=)
1g.94029542T>ACA341285014ABCA4c.4442A>T (p.Gln1481Leu)
c.818A>T (p.Gln273Leu)
1g.94029542T>CCA341285015ABCA4c.4442A>G (p.Gln1481Arg)
c.818A>G (p.Gln273Arg)
1g.94029542T>GCA341285016ABCA4c.4442A>C (p.Gln1481Pro)
c.818A>C (p.Gln273Pro)
1g.94029542dupCA524697426ABCA4c.4442dup (p.Val1482GlyfsTer?)
c.818dup (p.Val274GlyfsTer?)
 dbSNP gnomAD v2 gnomAD v4
1g.94029543G>ACA341285017ABCA4c.4441C>T (p.Gln1481Ter)
c.817C>T (p.Gln273Ter)
1g.94029543G>CCA341285018ABCA4c.4441C>G (p.Gln1481Glu)
c.817C>G (p.Gln273Glu)
1g.94029543G=CA1181414581ABCA4c.4441C= (p.Gln1481=)
c.817C= (p.Gln273=)
1g.94029543G>TCA957604ABCA4c.4441C>A (p.Gln1481Lys)
c.817C>A (p.Gln273Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94029544T>ACA418824604ABCA4c.4440A>T (p.Thr1480=)
c.816A>T (p.Thr272=)
1g.94029544T>CCA418824607ABCA4c.4440A>G (p.Thr1480=)
c.816A>G (p.Thr272=)
 gnomAD v4
1g.94029544T>GCA418824605ABCA4c.4440A>C (p.Thr1480=)
c.816A>C (p.Thr272=)
1g.94029545G>ACA341285019ABCA4c.4439C>T (p.Thr1480Ile)
c.815C>T (p.Thr272Ile)
1g.94029545G>CCA341285020ABCA4c.4439C>G (p.Thr1480Arg)
c.815C>G (p.Thr272Arg)
1g.94029545G>TCA341285021ABCA4c.4439C>A (p.Thr1480Lys)
c.815C>A (p.Thr272Lys)
1g.94029546T>ACA341285022ABCA4c.4438A>T (p.Thr1480Ser)
c.814A>T (p.Thr272Ser)
1g.94029546T>CCA341285024ABCA4c.4438A>G (p.Thr1480Ala)
c.814A>G (p.Thr272Ala)
 dbSNP gnomAD v2 COSMIC
1g.94029546T>GCA341285023ABCA4c.4438A>C (p.Thr1480Pro)
c.814A>C (p.Thr272Pro)
1g.94029546T=CA1181414582ABCA4c.4438A= (p.Thr1480=)
c.814A= (p.Thr272=)
1g.94029547C>ACA341285025ABCA4c.4437G>T (p.Trp1479Cys)
c.813G>T (p.Trp271Cys)
1g.94029547C=CA1181414583ABCA4c.4437G= (p.Trp1479=)
c.813G= (p.Trp271=)
1g.94029547C>GCA341285027ABCA4c.4437G>C (p.Trp1479Cys)
c.813G>C (p.Trp271Cys)
1g.94029547C>TCA341285026ABCA4c.4437G>A (p.Trp1479Ter)
c.813G>A (p.Trp271Ter)
 ClinVar dbSNP gnomAD v4
1g.94029548C>ACA341285028ABCA4c.4436G>T (p.Trp1479Leu)
c.812G>T (p.Trp271Leu)
 gnomAD v4
1g.94029548C=CA1140726132ABCA4c.4436G= (p.Trp1479=)
c.812G= (p.Trp271=)
1g.94029548C>GCA341285029ABCA4c.4436G>C (p.Trp1479Ser)
c.812G>C (p.Trp271Ser)
1g.94029548C>TCA227190ABCA4c.4436G>A (p.Trp1479Ter)
c.812G>A (p.Trp271Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94029549A>CCA341285030ABCA4c.4435T>G (p.Trp1479Gly)
c.811T>G (p.Trp271Gly)
 gnomAD v4
1g.94029549A>GCA341285031ABCA4c.4435T>C (p.Trp1479Arg)
c.811T>C (p.Trp271Arg)
 gnomAD v4
1g.94029549A>TCA341285032ABCA4c.4435T>A (p.Trp1479Arg)
c.811T>A (p.Trp271Arg)
1g.94029550T>ACA341285033ABCA4c.4434A>T (p.Lys1478Asn)
c.810A>T (p.Lys270Asn)
1g.94029550T>CCA418824626ABCA4c.4434A>G (p.Lys1478=)
c.810A>G (p.Lys270=)
 dbSNP gnomAD v3 gnomAD v4
1g.94029550T>GCA341285034ABCA4c.4434A>C (p.Lys1478Asn)
c.810A>C (p.Lys270Asn)
1g.94029550T=CA1181414584ABCA4c.4434A= (p.Lys1478=)
c.810A= (p.Lys270=)
1g.94029551T>ACA341285035ABCA4c.4433A>T (p.Lys1478Ile)
c.809A>T (p.Lys270Ile)
1g.94029551T>CCA341285036ABCA4c.4433A>G (p.Lys1478Arg)
c.809A>G (p.Lys270Arg)
1g.94029551T>GCA341285037ABCA4c.4433A>C (p.Lys1478Thr)
c.809A>C (p.Lys270Thr)
1g.94029552T>ACA341285072ABCA4c.4432A>T (p.Lys1478Ter)
c.808A>T (p.Lys270Ter)
1g.94029552T>CCA341285070ABCA4c.4432A>G (p.Lys1478Glu)
c.808A>G (p.Lys270Glu)
1g.94029552T>GCA341285038ABCA4c.4432A>C (p.Lys1478Gln)
c.808A>C (p.Lys270Gln)
1g.94029553C>ACA341285074ABCA4c.4431G>T (p.Gln1477His)
c.807G>T (p.Gln269His)
1g.94029553C>GCA341285076ABCA4c.4431G>C (p.Gln1477His)
c.807G>C (p.Gln269His)
1g.94029553C>TCA418824640ABCA4c.4431G>A (p.Gln1477=)
c.807G>A (p.Gln269=)
1g.94029554T>ACA341285088ABCA4c.4430A>T (p.Gln1477Leu)
c.806A>T (p.Gln269Leu)
1g.94029554T>CCA341285090ABCA4c.4430A>G (p.Gln1477Arg)
c.806A>G (p.Gln269Arg)
 dbSNP
1g.94029554T>GCA957605ABCA4c.4430A>C (p.Gln1477Pro)
c.806A>C (p.Gln269Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94029554T=CA1181414585ABCA4c.4430A= (p.Gln1477=)
c.806A= (p.Gln269=)
1g.94029555G>ACA346872ABCA4c.4429C>T (p.Gln1477Ter)
c.805C>T (p.Gln269Ter)
 ClinVar dbSNP gnomAD v4
1g.94029555G>CCA341285093ABCA4c.4429C>G (p.Gln1477Glu)
c.805C>G (p.Gln269Glu)
1g.94029555G=CA1181414586ABCA4c.4429C= (p.Gln1477=)
c.805C= (p.Gln269=)
1g.94029555G>TCA341285095ABCA4c.4429C>A (p.Gln1477Lys)
c.805C>A (p.Gln269Lys)
1g.94029556C>ACA341285097ABCA4c.4428G>T (p.Lys1476Asn)
c.804G>T (p.Lys268Asn)
1g.94029556C=CA1181414587ABCA4c.4428G= (p.Lys1476=)
c.804G= (p.Lys268=)
1g.94029556C>GCA341285098ABCA4c.4428G>C (p.Lys1476Asn)
c.804G>C (p.Lys268Asn)
1g.94029556C>TCA957606ABCA4c.4428G>A (p.Lys1476=)
c.804G>A (p.Lys268=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94029557T>ACA341285105ABCA4c.4427A>T (p.Lys1476Met)
c.803A>T (p.Lys268Met)
1g.94029557T>CCA341285103ABCA4c.4427A>G (p.Lys1476Arg)
c.803A>G (p.Lys268Arg)
1g.94029557T>GCA341285101ABCA4c.4427A>C (p.Lys1476Thr)
c.803A>C (p.Lys268Thr)
 gnomAD v4
1g.94029558T>ACA341285106ABCA4c.4426A>T (p.Lys1476Ter)
c.802A>T (p.Lys268Ter)
1g.94029558T>CCA341285108ABCA4c.4426A>G (p.Lys1476Glu)
c.802A>G (p.Lys268Glu)
 ClinVar dbSNP gnomAD v4
1g.94029558T>GCA341285109ABCA4c.4426A>C (p.Lys1476Gln)
c.802A>C (p.Lys268Gln)
1g.94029558T=CA1181414588ABCA4c.4426A= (p.Lys1476=)
c.802A= (p.Lys268=)
1g.94029559C>ACA341285111ABCA4c.4425G>T (p.Gln1475His)
c.801G>T (p.Gln267His)
1g.94029559C>GCA341285112ABCA4c.4425G>C (p.Gln1475His)
c.801G>C (p.Gln267His)
1g.94029559C>TCA418824678ABCA4c.4425G>A (p.Gln1475=)
c.801G>A (p.Gln267=)
1g.94029560T>ACA341285114ABCA4c.4424A>T (p.Gln1475Leu)
c.800A>T (p.Gln267Leu)
1g.94029560T>CCA341285115ABCA4c.4424A>G (p.Gln1475Arg)
c.800A>G (p.Gln267Arg)
1g.94029560T>GCA341285116ABCA4c.4424A>C (p.Gln1475Pro)
c.800A>C (p.Gln267Pro)
1g.94029561G>ACA341285119ABCA4c.4423C>T (p.Gln1475Ter)
c.799C>T (p.Gln267Ter)
 ClinVar dbSNP COSMIC
1g.94029561G>CCA341285120ABCA4c.4423C>G (p.Gln1475Glu)
c.799C>G (p.Gln267Glu)
1g.94029561G>TCA341285123ABCA4c.4423C>A (p.Gln1475Lys)
c.799C>A (p.Gln267Lys)
1g.94029562G>ACA418824683ABCA4c.4422C>T (p.Phe1474=)
c.798C>T (p.Phe266=)
1g.94029562G>CCA341285124ABCA4c.4422C>G (p.Phe1474Leu)
c.798C>G (p.Phe266Leu)
1g.94029562G>TCA341285125ABCA4c.4422C>A (p.Phe1474Leu)
c.798C>A (p.Phe266Leu)
1g.94029563A>CCA341285126ABCA4c.4421T>G (p.Phe1474Cys)
c.797T>G (p.Phe266Cys)
1g.94029563A>GCA341285128ABCA4c.4421T>C (p.Phe1474Ser)
c.797T>C (p.Phe266Ser)
1g.94029563A>TCA341285127ABCA4c.4421T>A (p.Phe1474Tyr)
c.797T>A (p.Phe266Tyr)
1g.94029564A=CA1148461870ABCA4c.4420T= (p.Phe1474=)
c.796T= (p.Phe266=)
1g.94029564A>CCA341285131ABCA4c.4420T>G (p.Phe1474Val)
c.796T>G (p.Phe266Val)
1g.94029564A>GCA957607ABCA4c.4420T>C (p.Phe1474Leu)
c.796T>C (p.Phe266Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94029564A>TCA341285133ABCA4c.4420T>A (p.Phe1474Ile)
c.796T>A (p.Phe266Ile)
1g.94029565C>ACA418824703ABCA4c.4419G>T (p.Leu1473=)
c.795G>T (p.Leu265=)
1g.94029565C>GCA418824701ABCA4c.4419G>C (p.Leu1473=)
c.795G>C (p.Leu265=)
1g.94029565C>TCA418824702ABCA4c.4419G>A (p.Leu1473=)
c.795G>A (p.Leu265=)
 gnomAD v4
1g.94029566A>CCA341285135ABCA4c.4418T>G (p.Leu1473Arg)
c.794T>G (p.Leu265Arg)
1g.94029566A>GCA341285138ABCA4c.4418T>C (p.Leu1473Pro)
c.794T>C (p.Leu265Pro)
1g.94029566A>TCA341285146ABCA4c.4418T>A (p.Leu1473Gln)
c.794T>A (p.Leu265Gln)
1g.94029567G>ACA418824710ABCA4c.4417C>T (p.Leu1473=)
c.793C>T (p.Leu265=)
1g.94029567G>CCA341285147ABCA4c.4417C>G (p.Leu1473Val)
c.793C>G (p.Leu265Val)
1g.94029567G=CA1141885631ABCA4c.4417C= (p.Leu1473=)
c.793C= (p.Leu265=)
1g.94029567G>TCA957608ABCA4c.4417C>A (p.Leu1473Met)
c.793C>A (p.Leu265Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029568C>ACA341285150ABCA4c.4416G>T (p.Gln1472His)
c.792G>T (p.Gln264His)
1g.94029568C=CA1181414589ABCA4c.4416G= (p.Gln1472=)
c.792G= (p.Gln264=)
1g.94029568C>GCA341285152ABCA4c.4416G>C (p.Gln1472His)
c.792G>C (p.Gln264His)
1g.94029568C>TCA957609ABCA4c.4416G>A (p.Gln1472=)
c.792G>A (p.Gln264=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029569T>ACA341285155ABCA4c.4415A>T (p.Gln1472Leu)
c.791A>T (p.Gln264Leu)
1g.94029569T>CCA341285157ABCA4c.4415A>G (p.Gln1472Arg)
c.791A>G (p.Gln264Arg)
 gnomAD v4
1g.94029569T>GCA341285153ABCA4c.4415A>C (p.Gln1472Pro)
c.791A>C (p.Gln264Pro)
1g.94029570G>ACA341285160ABCA4c.4414C>T (p.Gln1472Ter)
c.790C>T (p.Gln264Ter)
 ClinVar
1g.94029570G>CCA341285159ABCA4c.4414C>G (p.Gln1472Glu)
c.790C>G (p.Gln264Glu)
 ClinVar gnomAD v4
1g.94029570G>TCA341285161ABCA4c.4414C>A (p.Gln1472Lys)
c.790C>A (p.Gln264Lys)
1g.94029571G>ACA418824731ABCA4c.4413C>T (p.Thr1471=)
c.789C>T (p.Thr263=)
1g.94029571G>CCA418824738ABCA4c.4413C>G (p.Thr1471=)
c.789C>G (p.Thr263=)
1g.94029571G>TCA418824733ABCA4c.4413C>A (p.Thr1471=)
c.789C>A (p.Thr263=)
1g.94029572G>ACA341285162ABCA4c.4412C>T (p.Thr1471Ile)
c.788C>T (p.Thr263Ile)
 dbSNP gnomAD v4
1g.94029572G>CCA341285163ABCA4c.4412C>G (p.Thr1471Ser)
c.788C>G (p.Thr263Ser)
1g.94029572G=CA1181414590ABCA4c.4412C= (p.Thr1471=)
c.788C= (p.Thr263=)
1g.94029572G>TCA341285164ABCA4c.4412C>A (p.Thr1471Asn)
c.788C>A (p.Thr263Asn)
1g.94029573T>ACA341285166ABCA4c.4411A>T (p.Thr1471Ser)
c.787A>T (p.Thr263Ser)
1g.94029573T>CCA341285167ABCA4c.4411A>G (p.Thr1471Ala)
c.787A>G (p.Thr263Ala)
1g.94029573T>GCA341285172ABCA4c.4411A>C (p.Thr1471Pro)
c.787A>C (p.Thr263Pro)
 dbSNP
1g.94029573T=CA1181414591ABCA4c.4411A= (p.Thr1471=)
c.787A= (p.Thr263=)
1g.94029574_94029599delCA2739272648ABCA4c.4386_4411del (p.Lys1462AsnfsTer?)
c.762_787del (p.Lys254AsnfsTer?)
 ClinVar
1g.94029574G>ACA418824746ABCA4c.4410C>T (p.Ile1470=)
c.786C>T (p.Ile262=)
 ClinVar dbSNP
1g.94029574G>CCA341285174ABCA4c.4410C>G (p.Ile1470Met)
c.786C>G (p.Ile262Met)
1g.94029574G>TCA418824751ABCA4c.4410C>A (p.Ile1470=)
c.786C>A (p.Ile262=)
1g.94029575A>CCA341285175ABCA4c.4409T>G (p.Ile1470Ser)
c.785T>G (p.Ile262Ser)
1g.94029575A>GCA341285177ABCA4c.4409T>C (p.Ile1470Thr)
c.785T>C (p.Ile262Thr)
1g.94029575A>TCA341285180ABCA4c.4409T>A (p.Ile1470Asn)
c.785T>A (p.Ile262Asn)
1g.94029576T>ACA341285181ABCA4c.4408A>T (p.Ile1470Phe)
c.784A>T (p.Ile262Phe)
1g.94029576T>CCA341285182ABCA4c.4408A>G (p.Ile1470Val)
c.784A>G (p.Ile262Val)
 dbSNP gnomAD v3 gnomAD v4
1g.94029576T>GCA341285184ABCA4c.4408A>C (p.Ile1470Leu)
c.784A>C (p.Ile262Leu)
1g.94029576T=CA1181414592ABCA4c.4408A= (p.Ile1470=)
c.784A= (p.Ile262=)
1g.94029577G>ACA243619ABCA4c.4407C>T (p.Asn1469=)
c.783C>T (p.Asn261=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.94029577G>CCA341285186ABCA4c.4407C>G (p.Asn1469Lys)
c.783C>G (p.Asn261Lys)
1g.94029577G=CA1181414593ABCA4c.4407C= (p.Asn1469=)
c.783C= (p.Asn261=)
1g.94029577G>TCA341285187ABCA4c.4407C>A (p.Asn1469Lys)
c.783C>A (p.Asn261Lys)
1g.94029578T>ACA341285189ABCA4c.4406A>T (p.Asn1469Ile)
c.782A>T (p.Asn261Ile)
 gnomAD v4
1g.94029578T>CCA957610ABCA4c.4406A>G (p.Asn1469Ser)
c.782A>G (p.Asn261Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94029578T>GCA341285193ABCA4c.4406A>C (p.Asn1469Thr)
c.782A>C (p.Asn261Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.94029578T=CA1148226544ABCA4c.4406A= (p.Asn1469=)
c.782A= (p.Asn261=)
1g.94029579T>ACA341285194ABCA4c.4405A>T (p.Asn1469Tyr)
c.781A>T (p.Asn261Tyr)
 gnomAD v4
1g.94029579T>CCA957611ABCA4c.4405A>G (p.Asn1469Asp)
c.781A>G (p.Asn261Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029579T>GCA341285197ABCA4c.4405A>C (p.Asn1469His)
c.781A>C (p.Asn261His)
1g.94029579T=CA1181414594ABCA4c.4405A= (p.Asn1469=)
c.781A= (p.Asn261=)
1g.94029580T>ACA418824776ABCA4c.4404A>T (p.Pro1468=)
c.780A>T (p.Pro260=)
1g.94029580T>CCA418824778ABCA4c.4404A>G (p.Pro1468=)
c.780A>G (p.Pro260=)
1g.94029580T>GCA418824779ABCA4c.4404A>C (p.Pro1468=)
c.780A>C (p.Pro260=)
1g.94029581G>ACA341285199ABCA4c.4403C>T (p.Pro1468Leu)
c.779C>T (p.Pro260Leu)
 dbSNP gnomAD v4
1g.94029581G>CCA341285201ABCA4c.4403C>G (p.Pro1468Arg)
c.779C>G (p.Pro260Arg)
1g.94029581G=CA1181414595ABCA4c.4403C= (p.Pro1468=)
c.779C= (p.Pro260=)
1g.94029581G>TCA341285202ABCA4c.4403C>A (p.Pro1468Gln)
c.779C>A (p.Pro260Gln)
 COSMIC
1g.94029582G>ACA341285204ABCA4c.4402C>T (p.Pro1468Ser)
c.778C>T (p.Pro260Ser)
 COSMIC
1g.94029582G>CCA341285205ABCA4c.4402C>G (p.Pro1468Ala)
c.778C>G (p.Pro260Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94029582G=CA1181414596ABCA4c.4402C= (p.Pro1468=)
c.778C= (p.Pro260=)
1g.94029582G>TCA957612ABCA4c.4402C>A (p.Pro1468Thr)
c.778C>A (p.Pro260Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94029583G>ACA220684ABCA4c.4401C>T (p.Ser1467=)
c.777C>T (p.Ser259=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94029583G>CCA26853702ABCA4c.4401C>G (p.Ser1467=)
c.777C>G (p.Ser259=)
 dbSNP
1g.94029583G=CA1143020527ABCA4c.4401C= (p.Ser1467=)
c.777C= (p.Ser259=)
1g.94029583G>TCA418824796ABCA4c.4401C>A (p.Ser1467=)
c.777C>A (p.Ser259=)
 COSMIC
1g.94029584G>ACA341285209ABCA4c.4400C>T (p.Ser1467Phe)
c.776C>T (p.Ser259Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.94029584G>CCA341285211ABCA4c.4400C>G (p.Ser1467Cys)
c.776C>G (p.Ser259Cys)
1g.94029584G=CA1181414597ABCA4c.4400C= (p.Ser1467=)
c.776C= (p.Ser259=)
1g.94029584G>TCA341285213ABCA4c.4400C>A (p.Ser1467Tyr)
c.776C>A (p.Ser259Tyr)
1g.94029585A>CCA341285214ABCA4c.4399T>G (p.Ser1467Ala)
c.775T>G (p.Ser259Ala)
1g.94029585A>GCA341285215ABCA4c.4399T>C (p.Ser1467Pro)
c.775T>C (p.Ser259Pro)
1g.94029585A>TCA341285216ABCA4c.4399T>A (p.Ser1467Thr)
c.775T>A (p.Ser259Thr)
1g.94029586C>ACA418824804ABCA4c.4398G>T (p.Val1466=)
c.774G>T (p.Val258=)
1g.94029586C=CA1181414598ABCA4c.4398G= (p.Val1466=)
c.774G= (p.Val258=)
1g.94029586C>GCA418824806ABCA4c.4398G>C (p.Val1466=)
c.774G>C (p.Val258=)
1g.94029586C>TCA957613ABCA4c.4398G>A (p.Val1466=)
c.774G>A (p.Val258=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.94029587A=CA1181414600ABCA4c.4397T= (p.Val1466=)
c.773T= (p.Val258=)
1g.94029587A>CCA341285217ABCA4c.4397T>G (p.Val1466Gly)
c.773T>G (p.Val258Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.94029587A>GCA341285218ABCA4c.4397T>C (p.Val1466Ala)
c.773T>C (p.Val258Ala)
1g.94029587A>TCA341285219ABCA4c.4397T>A (p.Val1466Glu)
c.773T>A (p.Val258Glu)
1g.94029587_94029601delinsACAGAAGGAGTCTTCCA1181414599ABCA4c.4383_4397delinsGAAGACTCCTTCTGT (p.Trp1461=)
c.759_773delinsGAAGACTCCTTCTGT (p.Trp253=)
1g.94029588C>ACA341285221ABCA4c.4396G>T (p.Val1466Leu)
c.772G>T (p.Val258Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.94029588C=CA1181414601ABCA4c.4396G= (p.Val1466=)
c.772G= (p.Val258=)
1g.94029588C>GCA341285227ABCA4c.4396G>C (p.Val1466Leu)
c.772G>C (p.Val258Leu)
 dbSNP gnomAD v4
1g.94029588C>TCA341285228ABCA4c.4396G>A (p.Val1466Met)
c.772G>A (p.Val258Met)
1g.94029588_94029591delinsCAGACA1181414602ABCA4c.4393_4396delinsTCTG (p.Ser1465=)
c.769_772delinsTCTG (p.Ser257=)
1g.94029591_94029604delCA524697435ABCA4c.4383_4396del (p.Trp1461CysfsTer?)
c.759_772del (p.Trp253CysfsTer?)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched