Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018503T>ACA420603538HJVc.855A>T (p.Ile285=)
c.177A>T (p.Ile59=)
c.516A>T (p.Ile172=)
1g.146018503T>CCA342136363HJVc.855A>G (p.Ile285Met)
c.177A>G (p.Ile59Met)
c.516A>G (p.Ile172Met)
1g.146018503T>GCA420603537HJVc.855A>C (p.Ile285=)
c.177A>C (p.Ile59=)
c.516A>C (p.Ile172=)
 dbSNP gnomAD v4
1g.146018503T=CA1198820990HJVc.855A= (p.Ile285=)
c.177A= (p.Ile59=)
c.516A= (p.Ile172=)
1g.146018504A>CCA342136365HJVc.854T>G (p.Ile285Arg)
c.176T>G (p.Ile59Arg)
c.515T>G (p.Ile172Arg)
1g.146018504A>GCA342136371HJVc.854T>C (p.Ile285Thr)
c.176T>C (p.Ile59Thr)
c.515T>C (p.Ile172Thr)
1g.146018504A>TCA342136367HJVc.854T>A (p.Ile285Lys)
c.176T>A (p.Ile59Lys)
c.515T>A (p.Ile172Lys)
1g.146018505T>ACA342136372HJVc.853A>T (p.Ile285Leu)
c.175A>T (p.Ile59Leu)
c.514A>T (p.Ile172Leu)
1g.146018505T>CCA342136373HJVc.853A>G (p.Ile285Val)
c.175A>G (p.Ile59Val)
c.514A>G (p.Ile172Val)
 dbSNP gnomAD v4
1g.146018505T>GCA342136374HJVc.853A>C (p.Ile285Leu)
c.175A>C (p.Ile59Leu)
c.514A>C (p.Ile172Leu)
1g.146018505T=CA1198820991HJVc.853A= (p.Ile285=)
c.175A= (p.Ile59=)
c.514A= (p.Ile172=)
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

Number of alleles fetched