Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169555300T>ACA343132081F5c.1000A>T (p.Arg334Trp)
c.589A>T (p.Arg197Trp)
1g.169555300T>CCA114381F5c.1000A>G (p.Arg334Gly)
c.589A>G (p.Arg197Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555300T>GCA421733966F5c.1000A>C (p.Arg334=)
c.589A>C (p.Arg197=)
1g.169555300T=CA1141580335F5c.1000A= (p.Arg334=)
c.589A= (p.Arg197=)
1g.169555301G>ACA421733968F5c.999C>T (p.Thr333=)
c.588C>T (p.Thr196=)
1g.169555301G>CCA32390640F5c.999C>G (p.Thr333=)
c.588C>G (p.Thr196=)
 dbSNP gnomAD v4
1g.169555301G=CA1206149353F5c.999C= (p.Thr333=)
c.588C= (p.Thr196=)
1g.169555301G>TCA421733971F5c.999C>A (p.Thr333=)
c.588C>A (p.Thr196=)
1g.169555302G>ACA343132082F5c.998C>T (p.Thr333Ile)
c.587C>T (p.Thr196Ile)
 gnomAD v4
1g.169555302G>CCA343132083F5c.998C>G (p.Thr333Ser)
c.587C>G (p.Thr196Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.169555302G=CA1206149356F5c.998C= (p.Thr333=)
c.587C= (p.Thr196=)
1g.169555302G>TCA343132086F5c.998C>A (p.Thr333Asn)
c.587C>A (p.Thr196Asn)
1g.169555303T>ACA343132105F5c.997A>T (p.Thr333Ser)
c.586A>T (p.Thr196Ser)
1g.169555303T>CCA343132108F5c.997A>G (p.Thr333Ala)
c.586A>G (p.Thr196Ala)
1g.169555303T>GCA343132110F5c.997A>C (p.Thr333Pro)
c.586A>C (p.Thr196Pro)
1g.169555306dupCA2649036468F5c.997dup (p.Thr333AsnfsTer5)
c.586dup (p.Thr196AsnfsTer5)
 gnomAD v4
1g.169555304T>ACA343132125F5c.996A>T (p.Lys332Asn)
c.585A>T (p.Lys195Asn)
1g.169555304T>CCA421733987F5c.996A>G (p.Lys332=)
c.585A>G (p.Lys195=)
 gnomAD v4
1g.169555304T>GCA1234456F5c.996A>C (p.Lys332Asn)
c.585A>C (p.Lys195Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555304T=CA1141934523F5c.996A= (p.Lys332=)
c.585A= (p.Lys195=)
1g.169555305T>ACA343132130F5c.995A>T (p.Lys332Ile)
c.584A>T (p.Lys195Ile)
1g.169555305T>CCA343132140F5c.995A>G (p.Lys332Arg)
c.584A>G (p.Lys195Arg)
1g.169555305T>GCA343132137F5c.995A>C (p.Lys332Thr)
c.584A>C (p.Lys195Thr)
1g.169555306T>ACA343132144F5c.994A>T (p.Lys332Ter)
c.583A>T (p.Lys195Ter)
1g.169555306T>CCA343132149F5c.994A>G (p.Lys332Glu)
c.583A>G (p.Lys195Glu)
 dbSNP
1g.169555306T>GCA343132152F5c.994A>C (p.Lys332Gln)
c.583A>C (p.Lys195Gln)
1g.169555306T=CA1206149364F5c.994A= (p.Lys332=)
c.583A= (p.Lys195=)
1g.169555307C>ACA343132155F5c.993G>T (p.Lys331Asn)
c.582G>T (p.Lys194Asn)
1g.169555307C=CA1206149368F5c.993G= (p.Lys331=)
c.582G= (p.Lys194=)
1g.169555307C>GCA343132157F5c.993G>C (p.Lys331Asn)
c.582G>C (p.Lys194Asn)
1g.169555307C>TCA421733988F5c.993G>A (p.Lys331=)
c.582G>A (p.Lys194=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.169555308T>ACA343132161F5c.992A>T (p.Lys331Met)
c.581A>T (p.Lys194Met)
1g.169555308T>CCA343132166F5c.992A>G (p.Lys331Arg)
c.581A>G (p.Lys194Arg)
1g.169555308T>GCA343132169F5c.992A>C (p.Lys331Thr)
c.581A>C (p.Lys194Thr)
1g.169555309T>ACA343132175F5c.991A>T (p.Lys331Ter)
c.580A>T (p.Lys194Ter)
1g.169555309T>CCA343132177F5c.991A>G (p.Lys331Glu)
c.580A>G (p.Lys194Glu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.169555309T>GCA343132179F5c.991A>C (p.Lys331Gln)
c.580A>C (p.Lys194Gln)
 dbSNP gnomAD v2 gnomAD v4
1g.169555309T=CA1206149371F5c.991A= (p.Lys331=)
c.580A= (p.Lys194=)
1g.169555310T>ACA421733989F5c.990A>T (p.Pro330=)
c.579A>T (p.Pro193=)
1g.169555310T>CCA421733990F5c.990A>G (p.Pro330=)
c.579A>G (p.Pro193=)
1g.169555310T>GCA421733992F5c.990A>C (p.Pro330=)
c.579A>C (p.Pro193=)
1g.169555311G>ACA343132194F5c.989C>T (p.Pro330Leu)
c.578C>T (p.Pro193Leu)
1g.169555311G>CCA343132189F5c.989C>G (p.Pro330Arg)
c.578C>G (p.Pro193Arg)
1g.169555311G=CA1206149374F5c.989C= (p.Pro330=)
c.578C= (p.Pro193=)
1g.169555311G>TCA343132186F5c.989C>A (p.Pro330Gln)
c.578C>A (p.Pro193Gln)
 dbSNP
1g.169555312G>ACA343132198F5c.988C>T (p.Pro330Ser)
c.577C>T (p.Pro193Ser)
1g.169555312G>CCA343132211F5c.988C>G (p.Pro330Ala)
c.577C>G (p.Pro193Ala)
 dbSNP
1g.169555312G=CA1206149376F5c.988C= (p.Pro330=)
c.577C= (p.Pro193=)
1g.169555312G>TCA343132223F5c.988C>A (p.Pro330Thr)
c.577C>A (p.Pro193Thr)
1g.169555313G>ACA421733993F5c.987C>T (p.Cys329=)
c.576C>T (p.Cys192=)
 gnomAD v4

Number of alleles fetched