Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018506A>CCA420603542HJVc.852T>G (p.Thr284=)
c.174T>G (p.Thr58=)
c.513T>G (p.Thr171=)
1g.146018506A>GCA420603541HJVc.852T>C (p.Thr284=)
c.174T>C (p.Thr58=)
c.513T>C (p.Thr171=)
 gnomAD v4
1g.146018506A>TCA420603540HJVc.852T>A (p.Thr284=)
c.174T>A (p.Thr58=)
c.513T>A (p.Thr171=)
1g.146018507G>ACA342136379HJVc.851C>T (p.Thr284Ile)
c.173C>T (p.Thr58Ile)
c.512C>T (p.Thr171Ile)
1g.146018507G>CCA342136380HJVc.851C>G (p.Thr284Ser)
c.173C>G (p.Thr58Ser)
c.512C>G (p.Thr171Ser)
1g.146018507G>TCA342136381HJVc.851C>A (p.Thr284Asn)
c.173C>A (p.Thr58Asn)
c.512C>A (p.Thr171Asn)
1g.146018508T>ACA342136382HJVc.850A>T (p.Thr284Ser)
c.172A>T (p.Thr58Ser)
c.511A>T (p.Thr171Ser)
1g.146018508T>CCA342136384HJVc.850A>G (p.Thr284Ala)
c.172A>G (p.Thr58Ala)
c.511A>G (p.Thr171Ala)
1g.146018508T>GCA342136392HJVc.850A>C (p.Thr284Pro)
c.172A>C (p.Thr58Pro)
c.511A>C (p.Thr171Pro)
1g.146018509T>ACA420603546HJVc.849A>T (p.Thr283=)
c.171A>T (p.Thr57=)
c.510A>T (p.Thr170=)
1g.146018509T>CCA420603544HJVc.849A>G (p.Thr283=)
c.171A>G (p.Thr57=)
c.510A>G (p.Thr170=)
1g.146018509T>GCA420603547HJVc.849A>C (p.Thr283=)
c.171A>C (p.Thr57=)
c.510A>C (p.Thr170=)
1g.146018510G>ACA342136395HJVc.848C>T (p.Thr283Ile)
c.170C>T (p.Thr57Ile)
c.509C>T (p.Thr170Ile)
1g.146018510G>CCA342136396HJVc.848C>G (p.Thr283Arg)
c.170C>G (p.Thr57Arg)
c.509C>G (p.Thr170Arg)
1g.146018510G>TCA342136397HJVc.848C>A (p.Thr283Lys)
c.170C>A (p.Thr57Lys)
c.509C>A (p.Thr170Lys)
1g.146018511T>ACA342136401HJVc.847A>T (p.Thr283Ser)
c.169A>T (p.Thr57Ser)
c.508A>T (p.Thr170Ser)
1g.146018511T>CCA342136399HJVc.847A>G (p.Thr283Ala)
c.169A>G (p.Thr57Ala)
c.508A>G (p.Thr170Ala)
 gnomAD v4
1g.146018511T>GCA342136398HJVc.847A>C (p.Thr283Pro)
c.169A>C (p.Thr57Pro)
c.508A>C (p.Thr170Pro)
1g.146018512G>ACA420603552HJVc.846C>T (p.Gly282=)
c.168C>T (p.Gly56=)
c.507C>T (p.Gly169=)
 gnomAD v4
1g.146018512G>CCA420603554HJVc.846C>G (p.Gly282=)
c.168C>G (p.Gly56=)
c.507C>G (p.Gly169=)
1g.146018512G=CA1198820992HJVc.846C= (p.Gly282=)
c.168C= (p.Gly56=)
c.507C= (p.Gly169=)
1g.146018512G>TCA420603549HJVc.846C>A (p.Gly282=)
c.168C>A (p.Gly56=)
c.507C>A (p.Gly169=)
 dbSNP
1g.146018513C>ACA342136410HJVc.845G>T (p.Gly282Val)
c.167G>T (p.Gly56Val)
c.506G>T (p.Gly169Val)
1g.146018513C>GCA342136411HJVc.845G>C (p.Gly282Ala)
c.167G>C (p.Gly56Ala)
c.506G>C (p.Gly169Ala)
1g.146018513C>TCA342136412HJVc.845G>A (p.Gly282Asp)
c.167G>A (p.Gly56Asp)
c.506G>A (p.Gly169Asp)
1g.146018514C>ACA29823813HJVc.844G>T (p.Gly282Cys)
c.166G>T (p.Gly56Cys)
c.505G>T (p.Gly169Cys)
1g.146018514C=CA1198820993HJVc.844G= (p.Gly282=)
c.166G= (p.Gly56=)
c.505G= (p.Gly169=)
1g.146018514C>GCA29823816HJVc.844G>C (p.Gly282Arg)
c.166G>C (p.Gly56Arg)
c.505G>C (p.Gly169Arg)
1g.146018514C>TCA1053906HJVc.844G>A (p.Gly282Ser)
c.166G>A (p.Gly56Ser)
c.505G>A (p.Gly169Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018514_146018516delCA2647575368HJVc.842_844del (p.Ile281_Gly282delinsSer)
c.164_166del (p.Ile55_Gly56delinsSer)
c.503_505del (p.Ile168_Gly169delinsSer)
 gnomAD v4
1g.146018515A=CA1198820994HJVc.843T= (p.Ile281=)
c.165T= (p.Ile55=)
c.504T= (p.Ile168=)
1g.146018515A>CCA342136426HJVc.843T>G (p.Ile281Met)
c.165T>G (p.Ile55Met)
c.504T>G (p.Ile168Met)
 dbSNP gnomAD v4
1g.146018515A>GCA420603556HJVc.843T>C (p.Ile281=)
c.165T>C (p.Ile55=)
c.504T>C (p.Ile168=)
1g.146018515A>TCA420603557HJVc.843T>A (p.Ile281=)
c.165T>A (p.Ile55=)
c.504T>A (p.Ile168=)
1g.146018516A=CA1140886750HJVc.842T= (p.Ile281=)
c.164T= (p.Ile55=)
c.503T= (p.Ile168=)
1g.146018516A>CCA342136434HJVc.842T>G (p.Ile281Ser)
c.164T>G (p.Ile55Ser)
c.503T>G (p.Ile168Ser)
1g.146018516A>GCA252253HJVc.842T>C (p.Ile281Thr)
c.164T>C (p.Ile55Thr)
c.503T>C (p.Ile168Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018516A>TCA342136443HJVc.842T>A (p.Ile281Asn)
c.164T>A (p.Ile55Asn)
c.503T>A (p.Ile168Asn)
1g.146018517T>ACA342136456HJVc.841A>T (p.Ile281Phe)
c.163A>T (p.Ile55Phe)
c.502A>T (p.Ile168Phe)
 ClinVar dbSNP
1g.146018517T>CCA342136461HJVc.841A>G (p.Ile281Val)
c.163A>G (p.Ile55Val)
c.502A>G (p.Ile168Val)
 gnomAD v4
1g.146018517T>GCA342136462HJVc.841A>C (p.Ile281Leu)
c.163A>C (p.Ile55Leu)
c.502A>C (p.Ile168Leu)
 dbSNP gnomAD v4
1g.146018517T=CA1198820995HJVc.841A= (p.Ile281=)
c.163A= (p.Ile55=)
c.502A= (p.Ile168=)
1g.146018518G>ACA420603561HJVc.840C>T (p.Tyr280=)
c.162C>T (p.Tyr54=)
c.501C>T (p.Tyr167=)
1g.146018518G>CCA342136463HJVc.840C>G (p.Tyr280Ter)
c.162C>G (p.Tyr54Ter)
c.501C>G (p.Tyr167Ter)
1g.146018518G>TCA342136465HJVc.840C>A (p.Tyr280Ter)
c.162C>A (p.Tyr54Ter)
c.501C>A (p.Tyr167Ter)
1g.146018519T>ACA342136467HJVc.839A>T (p.Tyr280Phe)
c.161A>T (p.Tyr54Phe)
c.500A>T (p.Tyr167Phe)
1g.146018519T>CCA342136476HJVc.839A>G (p.Tyr280Cys)
c.161A>G (p.Tyr54Cys)
c.500A>G (p.Tyr167Cys)
 dbSNP
1g.146018519T>GCA342136479HJVc.839A>C (p.Tyr280Ser)
c.161A>C (p.Tyr54Ser)
c.500A>C (p.Tyr167Ser)
1g.146018519T=CA1198820996HJVc.839A= (p.Tyr280=)
c.161A= (p.Tyr54=)
c.500A= (p.Tyr167=)
1g.146018520A=CA1198820997HJVc.838T= (p.Tyr280=)
c.160T= (p.Tyr54=)
c.499T= (p.Tyr167=)
1g.146018520A>CCA342136496HJVc.838T>G (p.Tyr280Asp)
c.160T>G (p.Tyr54Asp)
c.499T>G (p.Tyr167Asp)
1g.146018520A>GCA342136497HJVc.838T>C (p.Tyr280His)
c.160T>C (p.Tyr54His)
c.499T>C (p.Tyr167His)
 dbSNP gnomAD v2 gnomAD v4
1g.146018520A>TCA342136498HJVc.838T>A (p.Tyr280Asn)
c.160T>A (p.Tyr54Asn)
c.499T>A (p.Tyr167Asn)
 COSMIC
1g.146018521G>ACA420603565HJVc.837C>T (p.Ala279=)
c.159C>T (p.Ala53=)
c.498C>T (p.Ala166=)
 dbSNP gnomAD v2 gnomAD v4
1g.146018521G>CCA420603563HJVc.837C>G (p.Ala279=)
c.159C>G (p.Ala53=)
c.498C>G (p.Ala166=)
1g.146018521G=CA1198820998HJVc.837C= (p.Ala279=)
c.159C= (p.Ala53=)
c.498C= (p.Ala166=)
1g.146018521G>TCA420603566HJVc.837C>A (p.Ala279=)
c.159C>A (p.Ala53=)
c.498C>A (p.Ala166=)
1g.146018522delCA2697199172HJVc.837del (p.Tyr280ThrfsTer6)
c.159del (p.Tyr54ThrfsTer6)
c.498del (p.Tyr167ThrfsTer6)
 dbSNP
1g.146018522G>ACA342136503HJVc.836C>T (p.Ala279Val)
c.158C>T (p.Ala53Val)
c.497C>T (p.Ala166Val)
1g.146018522G>CCA342136501HJVc.836C>G (p.Ala279Gly)
c.158C>G (p.Ala53Gly)
c.497C>G (p.Ala166Gly)
1g.146018522G>TCA342136499HJVc.836C>A (p.Ala279Asp)
c.158C>A (p.Ala53Asp)
c.497C>A (p.Ala166Asp)
1g.146018523C>ACA342136505HJVc.835G>T (p.Ala279Ser)
c.157G>T (p.Ala53Ser)
c.496G>T (p.Ala166Ser)
1g.146018523C>GCA342136509HJVc.835G>C (p.Ala279Pro)
c.157G>C (p.Ala53Pro)
c.496G>C (p.Ala166Pro)
1g.146018523C>TCA342136516HJVc.835G>A (p.Ala279Thr)
c.157G>A (p.Ala53Thr)
c.496G>A (p.Ala166Thr)
1g.146018524A>CCA420603570HJVc.834T>G (p.Ala278=)
c.156T>G (p.Ala52=)
c.495T>G (p.Ala165=)
1g.146018524A>GCA420603569HJVc.834T>C (p.Ala278=)
c.156T>C (p.Ala52=)
c.495T>C (p.Ala165=)
1g.146018524A>TCA420603568HJVc.834T>A (p.Ala278=)
c.156T>A (p.Ala52=)
c.495T>A (p.Ala165=)
1g.146018525G>ACA342136522HJVc.833C>T (p.Ala278Val)
c.155C>T (p.Ala52Val)
c.494C>T (p.Ala165Val)
1g.146018525G>CCA342136530HJVc.833C>G (p.Ala278Gly)
c.155C>G (p.Ala52Gly)
c.494C>G (p.Ala165Gly)
1g.146018525G>TCA342136535HJVc.833C>A (p.Ala278Asp)
c.155C>A (p.Ala52Asp)
c.494C>A (p.Ala165Asp)
1g.146018526C>ACA342136542HJVc.832G>T (p.Ala278Ser)
c.154G>T (p.Ala52Ser)
c.493G>T (p.Ala165Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.146018526C=CA1198820999HJVc.832G= (p.Ala278=)
c.154G= (p.Ala52=)
c.493G= (p.Ala165=)
1g.146018526C>GCA342136538HJVc.832G>C (p.Ala278Pro)
c.154G>C (p.Ala52Pro)
c.493G>C (p.Ala165Pro)
1g.146018526C>TCA342136539HJVc.832G>A (p.Ala278Thr)
c.154G>A (p.Ala52Thr)
c.493G>A (p.Ala165Thr)
1g.146018527T>ACA342136546HJVc.831A>T (p.Gln277His)
c.153A>T (p.Gln51His)
c.492A>T (p.Gln164His)
1g.146018527T>CCA420603574HJVc.831A>G (p.Gln277=)
c.153A>G (p.Gln51=)
c.492A>G (p.Gln164=)
 ClinVar dbSNP gnomAD v4
1g.146018527T>GCA342136550HJVc.831A>C (p.Gln277His)
c.153A>C (p.Gln51His)
c.492A>C (p.Gln164His)
1g.146018528T>ACA342136555HJVc.830A>T (p.Gln277Leu)
c.152A>T (p.Gln51Leu)
c.491A>T (p.Gln164Leu)
1g.146018528T>CCA342136557HJVc.830A>G (p.Gln277Arg)
c.152A>G (p.Gln51Arg)
c.491A>G (p.Gln164Arg)
 dbSNP
1g.146018528T>GCA342136560HJVc.830A>C (p.Gln277Pro)
c.152A>C (p.Gln51Pro)
c.491A>C (p.Gln164Pro)
1g.146018528T=CA1198821000HJVc.830A= (p.Gln277=)
c.152A= (p.Gln51=)
c.491A= (p.Gln164=)
1g.146018529G>ACA342136566HJVc.829C>T (p.Gln277Ter)
c.151C>T (p.Gln51Ter)
c.490C>T (p.Gln164Ter)
 ClinVar dbSNP gnomAD v4
1g.146018529G>CCA342136569HJVc.829C>G (p.Gln277Glu)
c.151C>G (p.Gln51Glu)
c.490C>G (p.Gln164Glu)
1g.146018529G=CA1198821001HJVc.829C= (p.Gln277=)
c.151C= (p.Gln51=)
c.490C= (p.Gln164=)
1g.146018529G>TCA342136576HJVc.829C>A (p.Gln277Lys)
c.151C>A (p.Gln51Lys)
c.490C>A (p.Gln164Lys)
1g.146018530G>ACA342136579HJVc.828C>T (p.Ile276=)
c.150C>T (p.Ile50=)
c.489C>T (p.Ile163=)
 ClinVar dbSNP
1g.146018530G>CCA342136583HJVc.828C>G (p.Ile276Met)
c.150C>G (p.Ile50Met)
c.489C>G (p.Ile163Met)
1g.146018530G=CA1141772597HJVc.828C= (p.Ile276=)
c.150C= (p.Ile50=)
c.489C= (p.Ile163=)
1g.146018530G>TCA1053905HJVc.828C>A (p.Ile276=)
c.150C>A (p.Ile50=)
c.489C>A (p.Ile163=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018531A>CCA342136588HJVc.827T>G (p.Ile276Ser)
c.149T>G (p.Ile50Ser)
c.488T>G (p.Ile163Ser)
1g.146018531A>GCA342136594HJVc.827T>C (p.Ile276Thr)
c.149T>C (p.Ile50Thr)
c.488T>C (p.Ile163Thr)
1g.146018531A>TCA342136599HJVc.827T>A (p.Ile276Asn)
c.149T>A (p.Ile50Asn)
c.488T>A (p.Ile163Asn)
1g.146018532T>ACA342136613HJVc.826A>T (p.Ile276Phe)
c.148A>T (p.Ile50Phe)
c.487A>T (p.Ile163Phe)
 dbSNP
1g.146018532T>CCA342136626HJVc.826A>G (p.Ile276Val)
c.148A>G (p.Ile50Val)
c.487A>G (p.Ile163Val)
 dbSNP gnomAD v4
1g.146018532T>GCA342136625HJVc.826A>C (p.Ile276Leu)
c.148A>C (p.Ile50Leu)
c.487A>C (p.Ile163Leu)
1g.146018533C>ACA342136627HJVc.825G>T (p.Glu275Asp)
c.147G>T (p.Glu49Asp)
c.486G>T (p.Glu162Asp)
1g.146018533C=CA1198821002HJVc.825G= (p.Glu275=)
c.147G= (p.Glu49=)
c.486G= (p.Glu162=)
1g.146018533C>GCA342136628HJVc.825G>C (p.Glu275Asp)
c.147G>C (p.Glu49Asp)
c.486G>C (p.Glu162Asp)
1g.146018533C>TCA420603581HJVc.825G>A (p.Glu275=)
c.147G>A (p.Glu49=)
c.486G>A (p.Glu162=)
 dbSNP gnomAD v3 gnomAD v4
1g.146018534T>ACA342136630HJVc.824A>T (p.Glu275Val)
c.146A>T (p.Glu49Val)
c.485A>T (p.Glu162Val)
1g.146018534T>CCA342136633HJVc.824A>G (p.Glu275Gly)
c.146A>G (p.Glu49Gly)
c.485A>G (p.Glu162Gly)
1g.146018534T>GCA342136634HJVc.824A>C (p.Glu275Ala)
c.146A>C (p.Glu49Ala)
c.485A>C (p.Glu162Ala)
1g.146018535C>ACA342136635HJVc.823G>T (p.Glu275Ter)
c.145G>T (p.Glu49Ter)
c.484G>T (p.Glu162Ter)
1g.146018535C>GCA342136636HJVc.823G>C (p.Glu275Gln)
c.145G>C (p.Glu49Gln)
c.484G>C (p.Glu162Gln)
1g.146018535C>TCA342136637HJVc.823G>A (p.Glu275Lys)
c.145G>A (p.Glu49Lys)
c.484G>A (p.Glu162Lys)
1g.146018536C>ACA420603586HJVc.822G>T (p.Val274=)
c.144G>T (p.Val48=)
c.483G>T (p.Val161=)
1g.146018536C>GCA420603588HJVc.822G>C (p.Val274=)
c.144G>C (p.Val48=)
c.483G>C (p.Val161=)
1g.146018536C>TCA420603584HJVc.822G>A (p.Val274=)
c.144G>A (p.Val48=)
c.483G>A (p.Val161=)
1g.146018537A>CCA342136639HJVc.821T>G (p.Val274Gly)
c.143T>G (p.Val48Gly)
c.482T>G (p.Val161Gly)
1g.146018537A>GCA342136646HJVc.821T>C (p.Val274Ala)
c.143T>C (p.Val48Ala)
c.482T>C (p.Val161Ala)
1g.146018537A>TCA342136654HJVc.821T>A (p.Val274Glu)
c.143T>A (p.Val48Glu)
c.482T>A (p.Val161Glu)
 gnomAD v4
1g.146018538C>ACA29823848HJVc.820G>T (p.Val274Leu)
c.142G>T (p.Val48Leu)
c.481G>T (p.Val161Leu)
1g.146018538C=CA1142946702HJVc.820G= (p.Val274=)
c.142G= (p.Val48=)
c.481G= (p.Val161=)
1g.146018538C>GCA29823861HJVc.820G>C (p.Val274Leu)
c.142G>C (p.Val48Leu)
c.481G>C (p.Val161Leu)
1g.146018538C>TCA1053904HJVc.820G>A (p.Val274Met)
c.142G>A (p.Val48Met)
c.481G>A (p.Val161Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018539A=CA1198821003HJVc.819T= (p.His273=)
c.141T= (p.His47=)
c.480T= (p.His160=)
1g.146018539A>CCA29823866HJVc.819T>G (p.His273Gln)
c.141T>G (p.His47Gln)
c.480T>G (p.His160Gln)
1g.146018539A>GCA1053903HJVc.819T>C (p.His273=)
c.141T>C (p.His47=)
c.480T>C (p.His160=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018539A>TCA29823868HJVc.819T>A (p.His273Gln)
c.141T>A (p.His47Gln)
c.480T>A (p.His160Gln)
1g.146018540T>ACA342136688HJVc.818A>T (p.His273Leu)
c.140A>T (p.His47Leu)
c.479A>T (p.His160Leu)
1g.146018540T>CCA342136689HJVc.818A>G (p.His273Arg)
c.140A>G (p.His47Arg)
c.479A>G (p.His160Arg)
1g.146018540T>GCA342136690HJVc.818A>C (p.His273Pro)
c.140A>C (p.His47Pro)
c.479A>C (p.His160Pro)
1g.146018541G>ACA1053902HJVc.817C>T (p.His273Tyr)
c.139C>T (p.His47Tyr)
c.478C>T (p.His160Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018541G>CCA29823871HJVc.817C>G (p.His273Asp)
c.139C>G (p.His47Asp)
c.478C>G (p.His160Asp)
1g.146018541G=CA1198821004HJVc.817C= (p.His273=)
c.139C= (p.His47=)
c.478C= (p.His160=)
1g.146018541G>TCA29823872HJVc.817C>A (p.His273Asn)
c.139C>A (p.His47Asn)
c.478C>A (p.His160Asn)
 COSMIC
1g.146018542G>ACA420603593HJVc.816C>T (p.Asn272=)
c.138C>T (p.Asn46=)
c.477C>T (p.Asn159=)
 dbSNP gnomAD v2 gnomAD v4
1g.146018542G>CCA342136696HJVc.816C>G (p.Asn272Lys)
c.138C>G (p.Asn46Lys)
c.477C>G (p.Asn159Lys)
1g.146018542G=CA1198821005HJVc.816C= (p.Asn272=)
c.138C= (p.Asn46=)
c.477C= (p.Asn159=)
1g.146018542G>TCA342136698HJVc.816C>A (p.Asn272Lys)
c.138C>A (p.Asn46Lys)
c.477C>A (p.Asn159Lys)
1g.146018543T>ACA29823873HJVc.815A>T (p.Asn272Ile)
c.137A>T (p.Asn46Ile)
c.476A>T (p.Asn159Ile)
1g.146018543T>CCA1053901HJVc.815A>G (p.Asn272Ser)
c.137A>G (p.Asn46Ser)
c.476A>G (p.Asn159Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018543T>GCA29823874HJVc.815A>C (p.Asn272Thr)
c.137A>C (p.Asn46Thr)
c.476A>C (p.Asn159Thr)
1g.146018543T=CA1198821006HJVc.815A= (p.Asn272=)
c.137A= (p.Asn46=)
c.476A= (p.Asn159=)
1g.146018544T>ACA342136733HJVc.814A>T (p.Asn272Tyr)
c.136A>T (p.Asn46Tyr)
c.475A>T (p.Asn159Tyr)
1g.146018544T>CCA342136745HJVc.814A>G (p.Asn272Asp)
c.136A>G (p.Asn46Asp)
c.475A>G (p.Asn159Asp)
1g.146018544T>GCA342136739HJVc.814A>C (p.Asn272His)
c.136A>C (p.Asn46His)
c.475A>C (p.Asn159His)
1g.146018545C>ACA420603598HJVc.813G>T (p.Gly271=)
c.135G>T (p.Gly45=)
c.474G>T (p.Gly158=)
1g.146018545C=CA1198821007HJVc.813G= (p.Gly271=)
c.135G= (p.Gly45=)
c.474G= (p.Gly158=)
1g.146018545C>GCA420603596HJVc.813G>C (p.Gly271=)
c.135G>C (p.Gly45=)
c.474G>C (p.Gly158=)
1g.146018545C>TCA420603595HJVc.813G>A (p.Gly271=)
c.135G>A (p.Gly45=)
c.474G>A (p.Gly158=)
 dbSNP gnomAD v3 gnomAD v4
1g.146018546C>ACA1053900HJVc.812G>T (p.Gly271Val)
c.134G>T (p.Gly45Val)
c.473G>T (p.Gly158Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018546C=CA1198821008HJVc.812G= (p.Gly271=)
c.134G= (p.Gly45=)
c.473G= (p.Gly158=)
1g.146018546C>GCA29823890HJVc.812G>C (p.Gly271Ala)
c.134G>C (p.Gly45Ala)
c.473G>C (p.Gly158Ala)
1g.146018546C>TCA29823885HJVc.812G>A (p.Gly271Glu)
c.134G>A (p.Gly45Glu)
c.473G>A (p.Gly158Glu)
1g.146018547C>ACA342136770HJVc.811G>T (p.Gly271Trp)
c.133G>T (p.Gly45Trp)
c.472G>T (p.Gly158Trp)
1g.146018547C>GCA342136780HJVc.811G>C (p.Gly271Arg)
c.133G>C (p.Gly45Arg)
c.472G>C (p.Gly158Arg)
1g.146018547C>TCA342136781HJVc.811G>A (p.Gly271Arg)
c.133G>A (p.Gly45Arg)
c.472G>A (p.Gly158Arg)
1g.146018548A=CA1198821009HJVc.810T= (p.Pro270=)
c.132T= (p.Pro44=)
c.471T= (p.Pro157=)
1g.146018548A>CCA420603601HJVc.810T>G (p.Pro270=)
c.132T>G (p.Pro44=)
c.471T>G (p.Pro157=)
1g.146018548A>GCA420603600HJVc.810T>C (p.Pro270=)
c.132T>C (p.Pro44=)
c.471T>C (p.Pro157=)
 ClinVar dbSNP
1g.146018548A>TCA420603599HJVc.810T>A (p.Pro270=)
c.132T>A (p.Pro44=)
c.471T>A (p.Pro157=)
1g.146018549G>ACA342136784HJVc.809C>T (p.Pro270Leu)
c.131C>T (p.Pro44Leu)
c.470C>T (p.Pro157Leu)
 dbSNP
1g.146018549G>CCA342136782HJVc.809C>G (p.Pro270Arg)
c.131C>G (p.Pro44Arg)
c.470C>G (p.Pro157Arg)
1g.146018549G=CA1198821010HJVc.809C= (p.Pro270=)
c.131C= (p.Pro44=)
c.470C= (p.Pro157=)
1g.146018549G>TCA342136783HJVc.809C>A (p.Pro270His)
c.131C>A (p.Pro44His)
c.470C>A (p.Pro157His)
1g.146018550G>ACA342136794HJVc.808C>T (p.Pro270Ser)
c.130C>T (p.Pro44Ser)
c.469C>T (p.Pro157Ser)
1g.146018550G>CCA342136801HJVc.808C>G (p.Pro270Ala)
c.130C>G (p.Pro44Ala)
c.469C>G (p.Pro157Ala)
 gnomAD v4
1g.146018550G>TCA342136808HJVc.808C>A (p.Pro270Thr)
c.130C>A (p.Pro44Thr)
c.469C>A (p.Pro157Thr)
 gnomAD v4
1g.146018551G>ACA420603603HJVc.807C>T (p.Asn269=)
c.129C>T (p.Asn43=)
c.468C>T (p.Asn156=)
1g.146018551G>CCA342136819HJVc.807C>G (p.Asn269Lys)
c.129C>G (p.Asn43Lys)
c.468C>G (p.Asn156Lys)
1g.146018551G=CA1198821011HJVc.807C= (p.Asn269=)
c.129C= (p.Asn43=)
c.468C= (p.Asn156=)
1g.146018551G>TCA342136823HJVc.807C>A (p.Asn269Lys)
c.129C>A (p.Asn43Lys)
c.468C>A (p.Asn156Lys)
 COSMIC
1g.146018552T>ACA29823896HJVc.806A>T (p.Asn269Ile)
c.128A>T (p.Asn43Ile)
c.467A>T (p.Asn156Ile)
1g.146018552T>CCA1053899HJVc.806A>G (p.Asn269Ser)
c.128A>G (p.Asn43Ser)
c.467A>G (p.Asn156Ser)
 dbSNP ExAC gnomAD v4
1g.146018552T>GCA29823907HJVc.806A>C (p.Asn269Thr)
c.128A>C (p.Asn43Thr)
c.467A>C (p.Asn156Thr)
1g.146018552T=CA1198821012HJVc.806A= (p.Asn269=)
c.128A= (p.Asn43=)
c.467A= (p.Asn156=)
1g.146018553dupCA916295404HJVc.806dup (p.Asn269LysfsTer?)
c.128dup (p.Asn43LysfsTer?)
c.467dup (p.Asn156LysfsTer?)
 dbSNP
1g.146018553T>ACA342136833HJVc.805A>T (p.Asn269Tyr)
c.127A>T (p.Asn43Tyr)
c.466A>T (p.Asn156Tyr)
1g.146018553T>CCA342136836HJVc.805A>G (p.Asn269Asp)
c.127A>G (p.Asn43Asp)
c.466A>G (p.Asn156Asp)
 dbSNP
1g.146018553T>GCA342136842HJVc.805A>C (p.Asn269His)
c.127A>C (p.Asn43His)
c.466A>C (p.Asn156His)
 gnomAD v4
1g.146018553T=CA1198821013HJVc.805A= (p.Asn269=)
c.127A= (p.Asn43=)
c.466A= (p.Asn156=)
1g.146018554A>CCA420603606HJVc.804T>G (p.Ala268=)
c.126T>G (p.Ala42=)
c.465T>G (p.Ala155=)
1g.146018554A>GCA420603605HJVc.804T>C (p.Ala268=)
c.126T>C (p.Ala42=)
c.465T>C (p.Ala155=)
 gnomAD v4
1g.146018554A>TCA420603604HJVc.804T>A (p.Ala268=)
c.126T>A (p.Ala42=)
c.465T>A (p.Ala155=)
1g.146018555G>ACA342136845HJVc.803C>T (p.Ala268Val)
c.125C>T (p.Ala42Val)
c.464C>T (p.Ala155Val)
 gnomAD v4
1g.146018555G>CCA342136847HJVc.803C>G (p.Ala268Gly)
c.125C>G (p.Ala42Gly)
c.464C>G (p.Ala155Gly)
1g.146018555G>TCA342136852HJVc.803C>A (p.Ala268Asp)
c.125C>A (p.Ala42Asp)
c.464C>A (p.Ala155Asp)
1g.146018556C>ACA342136855HJVc.802G>T (p.Ala268Ser)
c.124G>T (p.Ala42Ser)
c.463G>T (p.Ala155Ser)
1g.146018556C>GCA342136857HJVc.802G>C (p.Ala268Pro)
c.124G>C (p.Ala42Pro)
c.463G>C (p.Ala155Pro)
1g.146018556C>TCA342136860HJVc.802G>A (p.Ala268Thr)
c.124G>A (p.Ala42Thr)
c.463G>A (p.Ala155Thr)
1g.146018557A>CCA420603608HJVc.801T>G (p.Thr267=)
c.123T>G (p.Thr41=)
c.462T>G (p.Thr154=)
1g.146018557A>GCA420603607HJVc.801T>C (p.Thr267=)
c.123T>C (p.Thr41=)
c.462T>C (p.Thr154=)
1g.146018557A>TCA420603609HJVc.801T>A (p.Thr267=)
c.123T>A (p.Thr41=)
c.462T>A (p.Thr154=)
1g.146018558G>ACA342136864HJVc.800C>T (p.Thr267Ile)
c.122C>T (p.Thr41Ile)
c.461C>T (p.Thr154Ile)
1g.146018558G>CCA342136868HJVc.800C>G (p.Thr267Ser)
c.122C>G (p.Thr41Ser)
c.461C>G (p.Thr154Ser)
1g.146018558G>TCA342136872HJVc.800C>A (p.Thr267Asn)
c.122C>A (p.Thr41Asn)
c.461C>A (p.Thr154Asn)
1g.146018559T>ACA342136876HJVc.799A>T (p.Thr267Ser)
c.121A>T (p.Thr41Ser)
c.460A>T (p.Thr154Ser)
1g.146018559T>CCA342136882HJVc.799A>G (p.Thr267Ala)
c.121A>G (p.Thr41Ala)
c.460A>G (p.Thr154Ala)
1g.146018559T>GCA342136878HJVc.799A>C (p.Thr267Pro)
c.121A>C (p.Thr41Pro)
c.460A>C (p.Thr154Pro)
1g.146018561dupCA2838487101HJVc.799dup (p.Thr267AsnfsTer3)
c.121dup (p.Thr41AsnfsTer3)
c.460dup (p.Thr154AsnfsTer3)
1g.146018560T>ACA342136887HJVc.798A>T (p.Gln266His)
c.120A>T (p.Gln40His)
c.459A>T (p.Gln153His)
1g.146018560T>CCA420603613HJVc.798A>G (p.Gln266=)
c.120A>G (p.Gln40=)
c.459A>G (p.Gln153=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018560T>GCA342136899HJVc.798A>C (p.Gln266His)
c.120A>C (p.Gln40His)
c.459A>C (p.Gln153His)
1g.146018560T=CA1198821014HJVc.798A= (p.Gln266=)
c.120A= (p.Gln40=)
c.459A= (p.Gln153=)
1g.146018561T>ACA342136904HJVc.797A>T (p.Gln266Leu)
c.119A>T (p.Gln40Leu)
c.458A>T (p.Gln153Leu)
1g.146018561T>CCA342136907HJVc.797A>G (p.Gln266Arg)
c.119A>G (p.Gln40Arg)
c.458A>G (p.Gln153Arg)
 gnomAD v4
1g.146018561T>GCA342136908HJVc.797A>C (p.Gln266Pro)
c.119A>C (p.Gln40Pro)
c.458A>C (p.Gln153Pro)
1g.146018562G>ACA342136909HJVc.796C>T (p.Gln266Ter)
c.118C>T (p.Gln40Ter)
c.457C>T (p.Gln153Ter)
1g.146018562G>CCA342136910HJVc.796C>G (p.Gln266Glu)
c.118C>G (p.Gln40Glu)
c.457C>G (p.Gln153Glu)
1g.146018562G>TCA342136911HJVc.796C>A (p.Gln266Lys)
c.118C>A (p.Gln40Lys)
c.457C>A (p.Gln153Lys)
1g.146018563A>CCA342136917HJVc.795T>G (p.Ile265Met)
c.117T>G (p.Ile39Met)
c.456T>G (p.Ile152Met)
1g.146018563A>GCA420603262HJVc.795T>C (p.Ile265=)
c.117T>C (p.Ile39=)
c.456T>C (p.Ile152=)
1g.146018563A>TCA420603265HJVc.795T>A (p.Ile265=)
c.117T>A (p.Ile39=)
c.456T>A (p.Ile152=)
1g.146018564A>CCA342136921HJVc.794T>G (p.Ile265Ser)
c.116T>G (p.Ile39Ser)
c.455T>G (p.Ile152Ser)
1g.146018564A>GCA342136923HJVc.794T>C (p.Ile265Thr)
c.116T>C (p.Ile39Thr)
c.455T>C (p.Ile152Thr)
1g.146018564A>TCA342136925HJVc.794T>A (p.Ile265Asn)
c.116T>A (p.Ile39Asn)
c.455T>A (p.Ile152Asn)
1g.146018565T>ACA1053898HJVc.793A>T (p.Ile265Phe)
c.115A>T (p.Ile39Phe)
c.454A>T (p.Ile152Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018565T>CCA342136929HJVc.793A>G (p.Ile265Val)
c.115A>G (p.Ile39Val)
c.454A>G (p.Ile152Val)
1g.146018565T>GCA342136930HJVc.793A>C (p.Ile265Leu)
c.115A>C (p.Ile39Leu)
c.454A>C (p.Ile152Leu)
1g.146018565T=CA1198821015HJVc.793A= (p.Ile265=)
c.115A= (p.Ile39=)
c.454A= (p.Ile152=)
1g.146018566C>ACA1053897HJVc.792G>T (p.Ser264=)
c.114G>T (p.Ser38=)
c.453G>T (p.Ser151=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018566C=CA1140585985HJVc.792G= (p.Ser264=)
c.114G= (p.Ser38=)
c.453G= (p.Ser151=)
1g.146018566C>GCA1053895HJVc.792G>C (p.Ser264=)
c.114G>C (p.Ser38=)
c.453G>C (p.Ser151=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018566C>TCA1053896HJVc.792G>A (p.Ser264=)
c.114G>A (p.Ser38=)
c.453G>A (p.Ser151=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018567G>ACA1053894HJVc.791C>T (p.Ser264Leu)
c.113C>T (p.Ser38Leu)
c.452C>T (p.Ser151Leu)
c.*55C>T (n.*55C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018567G>CCA29823914HJVc.791C>G (p.Ser264Trp)
c.113C>G (p.Ser38Trp)
c.452C>G (p.Ser151Trp)
c.*55C>G (n.*55C>G)
 gnomAD v4
1g.146018567G=CA1198821016HJVc.791C= (p.Ser264=)
c.113C= (p.Ser38=)
c.452C= (p.Ser151=)
c.*55C= (n.*55C=)
1g.146018567G>TCA29823929HJVc.791C>A (p.Ser264Ter)
c.113C>A (p.Ser38Ter)
c.452C>A (p.Ser151Ter)
c.*55C>A (n.*55C>A)
1g.146018568A>CCA342136967HJVc.790T>G (p.Ser264Ala)
c.112T>G (p.Ser38Ala)
c.451T>G (p.Ser151Ala)
c.*54T>G (n.*54T>G)
1g.146018568A>GCA342136976HJVc.790T>C (p.Ser264Pro)
c.112T>C (p.Ser38Pro)
c.451T>C (p.Ser151Pro)
c.*54T>C (n.*54T>C)
1g.146018568A>TCA342136979HJVc.790T>A (p.Ser264Thr)
c.112T>A (p.Ser38Thr)
c.451T>A (p.Ser151Thr)
c.*54T>A (n.*54T>A)
1g.146018569C>ACA29823931HJVc.789G>T (p.Leu263Phe)
c.111G>T (p.Leu37Phe)
c.450G>T (p.Leu150Phe)
c.*53G>T (n.*53G>T)
1g.146018569C=CA1198821017HJVc.789G= (p.Leu263=)
c.111G= (p.Leu37=)
c.450G= (p.Leu150=)
c.*53G= (n.*53G=)
1g.146018569C>GCA29823932HJVc.789G>C (p.Leu263Phe)
c.111G>C (p.Leu37Phe)
c.450G>C (p.Leu150Phe)
c.*53G>C (n.*53G>C)
 COSMIC
1g.146018569C>TCA1053893HJVc.789G>A (p.Leu263=)
c.111G>A (p.Leu37=)
c.450G>A (p.Leu150=)
c.*53G>A (n.*53G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018570A>CCA342136987HJVc.788T>G (p.Leu263Trp)
c.110T>G (p.Leu37Trp)
c.449T>G (p.Leu150Trp)
c.*52T>G (n.*52T>G)
1g.146018570A>GCA342136997HJVc.788T>C (p.Leu263Ser)
c.110T>C (p.Leu37Ser)
c.449T>C (p.Leu150Ser)
c.*52T>C (n.*52T>C)
1g.146018570A>TCA342136986HJVc.788T>A (p.Leu263Ter)
c.110T>A (p.Leu37Ter)
c.449T>A (p.Leu150Ter)
c.*52T>A (n.*52T>A)
1g.146018571A>CCA342137004HJVc.787T>G (p.Leu263Val)
c.109T>G (p.Leu37Val)
c.448T>G (p.Leu150Val)
c.*51T>G (n.*51T>G)
1g.146018571A>GCA420603281HJVc.787T>C (p.Leu263=)
c.109T>C (p.Leu37=)
c.448T>C (p.Leu150=)
c.*51T>C (n.*51T>C)
 ClinVar
1g.146018571A>TCA342137001HJVc.787T>A (p.Leu263Met)
c.109T>A (p.Leu37Met)
c.448T>A (p.Leu150Met)
c.*51T>A (n.*51T>A)
1g.146018572A>CCA342137012HJVc.786T>G (p.Ser262Arg)
c.108T>G (p.Ser36Arg)
c.447T>G (p.Ser149Arg)
c.*50T>G (n.*50T>G)
1g.146018572A>GCA420603282HJVc.786T>C (p.Ser262=)
c.108T>C (p.Ser36=)
c.447T>C (p.Ser149=)
c.*50T>C (n.*50T>C)
1g.146018572A>TCA342137011HJVc.786T>A (p.Ser262Arg)
c.108T>A (p.Ser36Arg)
c.447T>A (p.Ser149Arg)
c.*50T>A (n.*50T>A)
1g.146018573C>ACA342137018HJVc.785G>T (p.Ser262Ile)
c.107G>T (p.Ser36Ile)
c.446G>T (p.Ser149Ile)
c.*49G>T (n.*49G>T)
1g.146018573C>GCA342137013HJVc.785G>C (p.Ser262Thr)
c.107G>C (p.Ser36Thr)
c.446G>C (p.Ser149Thr)
c.*49G>C (n.*49G>C)
1g.146018573C>TCA342137014HJVc.785G>A (p.Ser262Asn)
c.107G>A (p.Ser36Asn)
c.446G>A (p.Ser149Asn)
c.*49G>A (n.*49G>A)
1g.146018574T>ACA342137020HJVc.784A>T (p.Ser262Cys)
c.106A>T (p.Ser36Cys)
c.445A>T (p.Ser149Cys)
c.*48A>T (n.*48A>T)
1g.146018574T>CCA342137022HJVc.784A>G (p.Ser262Gly)
c.106A>G (p.Ser36Gly)
c.445A>G (p.Ser149Gly)
c.*48A>G (n.*48A>G)
1g.146018574T>GCA342137023HJVc.784A>C (p.Ser262Arg)
c.106A>C (p.Ser36Arg)
c.445A>C (p.Ser149Arg)
c.*48A>C (n.*48A>C)
1g.146018575G>ACA420603297HJVc.783C>T (p.Ser261=)
c.105C>T (p.Ser35=)
c.444C>T (p.Ser148=)
c.*47C>T (n.*47C>T)
1g.146018575G>CCA420603296HJVc.783C>G (p.Ser261=)
c.105C>G (p.Ser35=)
c.444C>G (p.Ser148=)
c.*47C>G (n.*47C>G)
 dbSNP
1g.146018575G=CA1198821018HJVc.783C= (p.Ser261=)
c.105C= (p.Ser35=)
c.444C= (p.Ser148=)
c.*47C= (n.*47C=)
1g.146018575G>TCA420603294HJVc.783C>A (p.Ser261=)
c.105C>A (p.Ser35=)
c.444C>A (p.Ser148=)
c.*47C>A (n.*47C>A)
1g.146018576G>ACA342137026HJVc.782C>T (p.Ser261Phe)
c.104C>T (p.Ser35Phe)
c.443C>T (p.Ser148Phe)
c.*46C>T (n.*46C>T)
 dbSNP
1g.146018576G>CCA342137044HJVc.782C>G (p.Ser261Cys)
c.104C>G (p.Ser35Cys)
c.443C>G (p.Ser148Cys)
c.*46C>G (n.*46C>G)
1g.146018576G=CA1198821019HJVc.782C= (p.Ser261=)
c.104C= (p.Ser35=)
c.443C= (p.Ser148=)
c.*46C= (n.*46C=)
1g.146018576G>TCA342137048HJVc.782C>A (p.Ser261Tyr)
c.104C>A (p.Ser35Tyr)
c.443C>A (p.Ser148Tyr)
c.*46C>A (n.*46C>A)
1g.146018577A>CCA342137053HJVc.781T>G (p.Ser261Ala)
c.103T>G (p.Ser35Ala)
c.442T>G (p.Ser148Ala)
c.*45T>G (n.*45T>G)
1g.146018577A>GCA342137061HJVc.781T>C (p.Ser261Pro)
c.103T>C (p.Ser35Pro)
c.442T>C (p.Ser148Pro)
c.*45T>C (n.*45T>C)
1g.146018577A>TCA342137065HJVc.781T>A (p.Ser261Thr)
c.103T>A (p.Ser35Thr)
c.442T>A (p.Ser148Thr)
c.*45T>A (n.*45T>A)
1g.146018578T>ACA420603305HJVc.780A>T (p.Gly260=)
c.102A>T (p.Gly34=)
c.441A>T (p.Gly147=)
c.*44A>T (n.*44A>T)
1g.146018578T>CCA420603304HJVc.780A>G (p.Gly260=)
c.102A>G (p.Gly34=)
c.441A>G (p.Gly147=)
c.*44A>G (n.*44A>G)
 ClinVar dbSNP gnomAD v4
1g.146018578T>GCA420603303HJVc.780A>C (p.Gly260=)
c.102A>C (p.Gly34=)
c.441A>C (p.Gly147=)
c.*44A>C (n.*44A>C)
 dbSNP
1g.146018578T=CA1198821020HJVc.780A= (p.Gly260=)
c.102A= (p.Gly34=)
c.441A= (p.Gly147=)
c.*44A= (n.*44A=)
1g.146018578_146018579delinsTCCA1198821021HJVc.779_780delinsGA (p.Gly260=)
c.101_102delinsGA (p.Gly34=)
c.440_441delinsGA (p.Gly147=)
c.*43_*44delinsGA (n.*43_*44delinsGA)
1g.146018579C>ACA342137080HJVc.779G>T (p.Gly260Val)
c.101G>T (p.Gly34Val)
c.440G>T (p.Gly147Val)
c.*43G>T (n.*43G>T)
 gnomAD v4
1g.146018579C>GCA342137078HJVc.779G>C (p.Gly260Ala)
c.101G>C (p.Gly34Ala)
c.440G>C (p.Gly147Ala)
c.*43G>C (n.*43G>C)
1g.146018579C>TCA342137068HJVc.779G>A (p.Gly260Glu)
c.101G>A (p.Gly34Glu)
c.440G>A (p.Gly147Glu)
c.*43G>A (n.*43G>A)
 gnomAD v4 COSMIC
1g.146018583delCA526253970HJVc.779del (p.Gly260AspfsTer26)
c.101del (p.Gly34AspfsTer26)
c.440del (p.Gly147AspfsTer26)
c.*43del (n.*43del)
 dbSNP gnomAD v2 gnomAD v4
1g.146018580C>ACA342137085HJVc.778G>T (p.Gly260Ter)
c.100G>T (p.Gly34Ter)
c.439G>T (p.Gly147Ter)
c.*42G>T (n.*42G>T)
1g.146018580C>GCA342137087HJVc.778G>C (p.Gly260Arg)
c.100G>C (p.Gly34Arg)
c.439G>C (p.Gly147Arg)
c.*42G>C (n.*42G>C)
1g.146018580C>TCA342137091HJVc.778G>A (p.Gly260Arg)
c.100G>A (p.Gly34Arg)
c.439G>A (p.Gly147Arg)
c.*42G>A (n.*42G>A)
 gnomAD v4 COSMIC
1g.146018581C>ACA420603310HJVc.777G>T (p.Gly259=)
c.99G>T (p.Gly33=)
c.438G>T (p.Gly146=)
c.*41G>T (n.*41G>T)
 gnomAD v4
1g.146018581C>GCA420603309HJVc.777G>C (p.Gly259=)
c.99G>C (p.Gly33=)
c.438G>C (p.Gly146=)
c.*41G>C (n.*41G>C)
1g.146018581C>TCA420603311HJVc.777G>A (p.Gly259=)
c.99G>A (p.Gly33=)
c.438G>A (p.Gly146=)
c.*41G>A (n.*41G>A)
 ClinVar
1g.146018582C>ACA29823933HJVc.776G>T (p.Gly259Val)
c.98G>T (p.Gly33Val)
c.437G>T (p.Gly146Val)
c.*40G>T (n.*40G>T)
1g.146018582C=CA1198821022HJVc.776G= (p.Gly259=)
c.98G= (p.Gly33=)
c.437G= (p.Gly146=)
c.*40G= (n.*40G=)
1g.146018582C>GCA29823936HJVc.776G>C (p.Gly259Ala)
c.98G>C (p.Gly33Ala)
c.437G>C (p.Gly146Ala)
c.*40G>C (n.*40G>C)
1g.146018582C>TCA1053892HJVc.776G>A (p.Gly259Glu)
c.98G>A (p.Gly33Glu)
c.437G>A (p.Gly146Glu)
c.*40G>A (n.*40G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018583C>ACA342137104HJVc.775G>T (p.Gly259Trp)
c.97G>T (p.Gly33Trp)
c.436G>T (p.Gly146Trp)
c.*39G>T (n.*39G>T)
1g.146018583C>GCA342137107HJVc.775G>C (p.Gly259Arg)
c.97G>C (p.Gly33Arg)
c.436G>C (p.Gly146Arg)
c.*39G>C (n.*39G>C)
1g.146018583C>TCA342137108HJVc.775G>A (p.Gly259Arg)
c.97G>A (p.Gly33Arg)
c.436G>A (p.Gly146Arg)
c.*39G>A (n.*39G>A)
 gnomAD v4
1g.146018584A>CCA420603316HJVc.774T>G (p.Pro258=)
c.96T>G (p.Pro32=)
c.435T>G (p.Pro145=)
c.*38T>G (n.*38T>G)
1g.146018584A>GCA420603318HJVc.774T>C (p.Pro258=)
c.96T>C (p.Pro32=)
c.435T>C (p.Pro145=)
c.*38T>C (n.*38T>C)
1g.146018584A>TCA420603314HJVc.774T>A (p.Pro258=)
c.96T>A (p.Pro32=)
c.435T>A (p.Pro145=)
c.*38T>A (n.*38T>A)
1g.146018585G>ACA342137109HJVc.773C>T (p.Pro258Leu)
c.95C>T (p.Pro32Leu)
c.434C>T (p.Pro145Leu)
c.*37C>T (n.*37C>T)
1g.146018585G>CCA342137110HJVc.773C>G (p.Pro258Arg)
c.95C>G (p.Pro32Arg)
c.434C>G (p.Pro145Arg)
c.*37C>G (n.*37C>G)
1g.146018585G>TCA342137111HJVc.773C>A (p.Pro258His)
c.95C>A (p.Pro32His)
c.434C>A (p.Pro145His)
c.*37C>A (n.*37C>A)
 gnomAD v4
1g.146018586G>ACA342137120HJVc.772C>T (p.Pro258Ser)
c.94C>T (p.Pro32Ser)
c.433C>T (p.Pro145Ser)
c.*36C>T (n.*36C>T)
1g.146018586G>CCA342137123HJVc.772C>G (p.Pro258Ala)
c.94C>G (p.Pro32Ala)
c.433C>G (p.Pro145Ala)
c.*36C>G (n.*36C>G)
1g.146018586G>TCA342137113HJVc.772C>A (p.Pro258Thr)
c.94C>A (p.Pro32Thr)
c.433C>A (p.Pro145Thr)
c.*36C>A (n.*36C>A)
1g.146018587T>ACA420603321HJVc.771A>T (p.Arg257=)
c.93A>T (p.Arg31=)
c.432A>T (p.Arg144=)
c.*35A>T (n.*35A>T)
1g.146018587T>CCA420603320HJVc.771A>G (p.Arg257=)
c.93A>G (p.Arg31=)
c.432A>G (p.Arg144=)
c.*35A>G (n.*35A>G)
1g.146018587T>GCA420603322HJVc.771A>C (p.Arg257=)
c.93A>C (p.Arg31=)
c.432A>C (p.Arg144=)
c.*35A>C (n.*35A>C)
1g.146018588C>ACA29823941HJVc.770G>T (p.Arg257Leu)
c.92G>T (p.Arg31Leu)
c.431G>T (p.Arg144Leu)
c.*34G>T (n.*34G>T)
1g.146018588C=CA1198821023HJVc.770G= (p.Arg257=)
c.92G= (p.Arg31=)
c.431G= (p.Arg144=)
c.*34G= (n.*34G=)
1g.146018588C>GCA29823942HJVc.770G>C (p.Arg257Pro)
c.92G>C (p.Arg31Pro)
c.431G>C (p.Arg144Pro)
c.*34G>C (n.*34G>C)
 dbSNP gnomAD v2 gnomAD v4
1g.146018588C>TCA1053891HJVc.770G>A (p.Arg257Gln)
c.92G>A (p.Arg31Gln)
c.431G>A (p.Arg144Gln)
c.*34G>A (n.*34G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018589G>ACA342137128HJVc.769C>T (p.Arg257Ter)
c.91C>T (p.Arg31Ter)
c.430C>T (p.Arg144Ter)
c.*33C>T (n.*33C>T)
 ClinVar dbSNP gnomAD v4
1g.146018589G>CCA342137130HJVc.769C>G (p.Arg257Gly)
c.91C>G (p.Arg31Gly)
c.430C>G (p.Arg144Gly)
c.*33C>G (n.*33C>G)
1g.146018589G=CA1198821024HJVc.769C= (p.Arg257=)
c.91C= (p.Arg31=)
c.430C= (p.Arg144=)
c.*33C= (n.*33C=)
1g.146018589G>TCA420603324HJVc.769C>A (p.Arg257=)
c.91C>A (p.Arg31=)
c.430C>A (p.Arg144=)
c.*33C>A (n.*33C>A)
1g.146018590dupCA2838487095HJVc.769dup (p.Arg257ProfsTer13)
c.91dup (p.Arg31ProfsTer13)
c.430dup (p.Arg144ProfsTer13)
c.*33dup (n.*33dup)
1g.146018590G>ACA420603328HJVc.768C>T (p.Asp256=)
c.90C>T (p.Asp30=)
c.429C>T (p.Asp143=)
c.*32C>T (n.*32C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018590G>CCA342137134HJVc.768C>G (p.Asp256Glu)
c.90C>G (p.Asp30Glu)
c.429C>G (p.Asp143Glu)
c.*32C>G (n.*32C>G)
1g.146018590G=CA1198821025HJVc.768C= (p.Asp256=)
c.90C= (p.Asp30=)
c.429C= (p.Asp143=)
c.*32C= (n.*32C=)
1g.146018590G>TCA342137137HJVc.768C>A (p.Asp256Glu)
c.90C>A (p.Asp30Glu)
c.429C>A (p.Asp143Glu)
c.*32C>A (n.*32C>A)
1g.146018591T>ACA342137166HJVc.767A>T (p.Asp256Val)
c.89A>T (p.Asp30Val)
c.428A>T (p.Asp143Val)
c.*31A>T (n.*31A>T)
 gnomAD v4
1g.146018591T>CCA342137170HJVc.767A>G (p.Asp256Gly)
c.89A>G (p.Asp30Gly)
c.428A>G (p.Asp143Gly)
c.*31A>G (n.*31A>G)
1g.146018591T>GCA342137168HJVc.767A>C (p.Asp256Ala)
c.89A>C (p.Asp30Ala)
c.428A>C (p.Asp143Ala)
c.*31A>C (n.*31A>C)
1g.146018591_146018593delinsTCACA1198821026HJVc.765_767delinsTGA (p.Gly255=)
c.87_89delinsTGA (p.Gly29=)
c.426_428delinsTGA (p.Gly142=)
c.*29_*31delinsTGA (n.*29_*31delinsTGA)
1g.146018592C>ACA1053890HJVc.766G>T (p.Asp256Tyr)
c.88G>T (p.Asp30Tyr)
c.427G>T (p.Asp143Tyr)
c.*30G>T (n.*30G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018592C=CA1198821027HJVc.766G= (p.Asp256=)
c.88G= (p.Asp30=)
c.427G= (p.Asp143=)
c.*30G= (n.*30G=)
1g.146018592C>GCA29823943HJVc.766G>C (p.Asp256His)
c.88G>C (p.Asp30His)
c.427G>C (p.Asp143His)
c.*30G>C (n.*30G>C)
1g.146018592C>TCA29823944HJVc.766G>A (p.Asp256Asn)
c.88G>A (p.Asp30Asn)
c.427G>A (p.Asp143Asn)
c.*30G>A (n.*30G>A)
 gnomAD v4
1g.146018593_146018594delCA342137180HJVc.765_766del (p.Asp256ProfsTer13)
c.87_88del (p.Asp30ProfsTer13)
c.426_427del (p.Asp143ProfsTer13)
c.*29_*30del (n.*29_*30del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.146018593A>CCA420603335HJVc.765T>G (p.Gly255=)
c.87T>G (p.Gly29=)
c.426T>G (p.Gly142=)
c.*29T>G (n.*29T>G)
1g.146018593A>GCA420603334HJVc.765T>C (p.Gly255=)
c.87T>C (p.Gly29=)
c.426T>C (p.Gly142=)
c.*29T>C (n.*29T>C)
1g.146018593A>TCA420603331HJVc.765T>A (p.Gly255=)
c.87T>A (p.Gly29=)
c.426T>A (p.Gly142=)
c.*29T>A (n.*29T>A)
1g.146018594C>ACA342137186HJVc.764G>T (p.Gly255Val)
c.86G>T (p.Gly29Val)
c.425G>T (p.Gly142Val)
c.*28G>T (n.*28G>T)
1g.146018594C=CA1198821028HJVc.764G= (p.Gly255=)
c.86G= (p.Gly29=)
c.425G= (p.Gly142=)
c.*28G= (n.*28G=)
1g.146018594C>GCA342137193HJVc.764G>C (p.Gly255Ala)
c.86G>C (p.Gly29Ala)
c.425G>C (p.Gly142Ala)
c.*28G>C (n.*28G>C)
1g.146018594C>TCA342137189HJVc.764G>A (p.Gly255Asp)
c.86G>A (p.Gly29Asp)
c.425G>A (p.Gly142Asp)
c.*28G>A (n.*28G>A)
 dbSNP gnomAD v4
1g.146018595C>ACA342137196HJVc.763G>T (p.Gly255Cys)
c.85G>T (p.Gly29Cys)
c.424G>T (p.Gly142Cys)
c.*27G>T (n.*27G>T)
1g.146018595C>GCA342137200HJVc.763G>C (p.Gly255Arg)
c.85G>C (p.Gly29Arg)
c.424G>C (p.Gly142Arg)
c.*27G>C (n.*27G>C)
1g.146018595C>TCA342137210HJVc.763G>A (p.Gly255Ser)
c.85G>A (p.Gly29Ser)
c.424G>A (p.Gly142Ser)
c.*27G>A (n.*27G>A)
 gnomAD v4
1g.146018596T>ACA420603343HJVc.762A>T (p.Gly254=)
c.84A>T (p.Gly28=)
c.423A>T (p.Gly141=)
c.*26A>T (n.*26A>T)
1g.146018596T>CCA420603342HJVc.762A>G (p.Gly254=)
c.84A>G (p.Gly28=)
c.423A>G (p.Gly141=)
c.*26A>G (n.*26A>G)
1g.146018596T>GCA420603341HJVc.762A>C (p.Gly254=)
c.84A>C (p.Gly28=)
c.423A>C (p.Gly141=)
c.*26A>C (n.*26A>C)
1g.146018597C>ACA342137213HJVc.761G>T (p.Gly254Val)
c.83G>T (p.Gly28Val)
c.422G>T (p.Gly141Val)
c.*25G>T (n.*25G>T)
1g.146018597C>GCA342137215HJVc.761G>C (p.Gly254Ala)
c.83G>C (p.Gly28Ala)
c.422G>C (p.Gly141Ala)
c.*25G>C (n.*25G>C)
1g.146018597C>TCA342137220HJVc.761G>A (p.Gly254Glu)
c.83G>A (p.Gly28Glu)
c.422G>A (p.Gly141Glu)
c.*25G>A (n.*25G>A)
1g.146018598C>ACA342137227HJVc.760G>T (p.Gly254Ter)
c.82G>T (p.Gly28Ter)
c.421G>T (p.Gly141Ter)
c.*24G>T (n.*24G>T)
1g.146018598C>GCA342137232HJVc.760G>C (p.Gly254Arg)
c.82G>C (p.Gly28Arg)
c.421G>C (p.Gly141Arg)
c.*24G>C (n.*24G>C)
1g.146018598C>TCA342137234HJVc.760G>A (p.Gly254Arg)
c.82G>A (p.Gly28Arg)
c.421G>A (p.Gly141Arg)
c.*24G>A (n.*24G>A)
1g.146018599A>CCA342137240HJVc.759T>G (p.Asn253Lys)
c.81T>G (p.Asn27Lys)
c.420T>G (p.Asn140Lys)
c.*23T>G (n.*23T>G)
1g.146018599A>GCA420603349HJVc.759T>C (p.Asn253=)
c.81T>C (p.Asn27=)
c.420T>C (p.Asn140=)
c.*23T>C (n.*23T>C)
 ClinVar
1g.146018599A>TCA342137249HJVc.759T>A (p.Asn253Lys)
c.81T>A (p.Asn27Lys)
c.420T>A (p.Asn140Lys)
c.*23T>A (n.*23T>A)
1g.146018600T>ACA342137264HJVc.758A>T (p.Asn253Ile)
c.80A>T (p.Asn27Ile)
c.419A>T (p.Asn140Ile)
c.*22A>T (n.*22A>T)
1g.146018600T>CCA342137260HJVc.758A>G (p.Asn253Ser)
c.80A>G (p.Asn27Ser)
c.419A>G (p.Asn140Ser)
c.*22A>G (n.*22A>G)
 dbSNP gnomAD v4
1g.146018600T>GCA342137255HJVc.758A>C (p.Asn253Thr)
c.80A>C (p.Asn27Thr)
c.419A>C (p.Asn140Thr)
c.*22A>C (n.*22A>C)
1g.146018600T=CA1198821029HJVc.758A= (p.Asn253=)
c.80A= (p.Asn27=)
c.419A= (p.Asn140=)
c.*22A= (n.*22A=)
1g.146018601T>ACA342137271HJVc.757A>T (p.Asn253Tyr)
c.79A>T (p.Asn27Tyr)
c.418A>T (p.Asn140Tyr)
c.*21A>T (n.*21A>T)
1g.146018601T>CCA342137276HJVc.757A>G (p.Asn253Asp)
c.79A>G (p.Asn27Asp)
c.418A>G (p.Asn140Asp)
c.*21A>G (n.*21A>G)
1g.146018601T>GCA342137274HJVc.757A>C (p.Asn253His)
c.79A>C (p.Asn27His)
c.418A>C (p.Asn140His)
c.*21A>C (n.*21A>C)
1g.146018602G>ACA1053889HJVc.756C>T (p.Ile252=)
c.78C>T (p.Ile26=)
c.417C>T (p.Ile139=)
c.*20C>T (n.*20C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018602G>CCA342137295HJVc.756C>G (p.Ile252Met)
c.78C>G (p.Ile26Met)
c.417C>G (p.Ile139Met)
c.*20C>G (n.*20C>G)
1g.146018602G=CA1142246196HJVc.756C= (p.Ile252=)
c.78C= (p.Ile26=)
c.417C= (p.Ile139=)
c.*20C= (n.*20C=)
1g.146018602G>TCA342137297HJVc.756C>A (p.Ile252=)
c.78C>A (p.Ile26=)
c.417C>A (p.Ile139=)
c.*20C>A (n.*20C>A)
 ClinVar dbSNP
1g.146018603A=CA1198821030HJVc.755T= (p.Ile252=)
c.77T= (p.Ile26=)
c.416T= (p.Ile139=)
c.*19T= (n.*19T=)
1g.146018603A>CCA342137304HJVc.755T>G (p.Ile252Ser)
c.77T>G (p.Ile26Ser)
c.416T>G (p.Ile139Ser)
c.*19T>G (n.*19T>G)
1g.146018603A>GCA342137317HJVc.755T>C (p.Ile252Thr)
c.77T>C (p.Ile26Thr)
c.416T>C (p.Ile139Thr)
c.*19T>C (n.*19T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.146018603A>TCA342137320HJVc.755T>A (p.Ile252Asn)
c.77T>A (p.Ile26Asn)
c.416T>A (p.Ile139Asn)
c.*19T>A (n.*19T>A)
1g.146018604T>ACA342137327HJVc.754A>T (p.Ile252Phe)
c.76A>T (p.Ile26Phe)
c.415A>T (p.Ile139Phe)
c.*18A>T (n.*18A>T)
1g.146018604T>CCA342137329HJVc.754A>G (p.Ile252Val)
c.76A>G (p.Ile26Val)
c.415A>G (p.Ile139Val)
c.*18A>G (n.*18A>G)
 gnomAD v4
1g.146018604T>GCA342137330HJVc.754A>C (p.Ile252Leu)
c.76A>C (p.Ile26Leu)
c.415A>C (p.Ile139Leu)
c.*18A>C (n.*18A>C)
1g.146018605A=CA1198821031HJVc.753T= (p.Ser251=)
c.75T= (p.Ser25=)
c.414T= (p.Ser138=)
c.*17T= (n.*17T=)
1g.146018605A>CCA420603361HJVc.753T>G (p.Ser251=)
c.75T>G (p.Ser25=)
c.414T>G (p.Ser138=)
c.*17T>G (n.*17T>G)
1g.146018605A>GCA420603362HJVc.753T>C (p.Ser251=)
c.75T>C (p.Ser25=)
c.414T>C (p.Ser138=)
c.*17T>C (n.*17T>C)
 dbSNP
1g.146018605A>TCA420603360HJVc.753T>A (p.Ser251=)
c.75T>A (p.Ser25=)
c.414T>A (p.Ser138=)
c.*17T>A (n.*17T>A)
 gnomAD v3 gnomAD v4
1g.146018606G>ACA342137332HJVc.752C>T (p.Ser251Phe)
c.74C>T (p.Ser25Phe)
c.413C>T (p.Ser138Phe)
c.*16C>T (n.*16C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.146018606G>CCA342137335HJVc.752C>G (p.Ser251Cys)
c.74C>G (p.Ser25Cys)
c.413C>G (p.Ser138Cys)
c.*16C>G (n.*16C>G)
1g.146018606G=CA1198821032HJVc.752C= (p.Ser251=)
c.74C= (p.Ser25=)
c.413C= (p.Ser138=)
c.*16C= (n.*16C=)
1g.146018606G>TCA342137342HJVc.752C>A (p.Ser251Tyr)
c.74C>A (p.Ser25Tyr)
c.413C>A (p.Ser138Tyr)
c.*16C>A (n.*16C>A)

Number of alleles fetched