Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806435C>ACA384880650SCN8Ac.4949C>A (p.Ala1650Asp)
c.3013C>A
c.4826C>A (p.Ala1609Asp)
c.4982C>A (p.Ala1661Asp)
ClinVar dbSNP
12g.51806435C=CA2036193110SCN8Ac.4949C= (p.Ala1650=)
c.3013C=
c.4826C= (p.Ala1609=)
c.4982C= (p.Ala1661=)
12g.51806435C>GCA384880651SCN8Ac.4949C>G (p.Ala1650Gly)
c.3013C>G
c.4826C>G (p.Ala1609Gly)
c.4982C>G (p.Ala1661Gly)
12g.51806435C>TCA318292SCN8Ac.4949C>T (p.Ala1650Val)
c.3013C>T
c.4826C>T (p.Ala1609Val)
c.4982C>T (p.Ala1661Val)
ClinVar dbSNP
12g.51806436C>ACA479788179SCN8Ac.4950C>A (p.Ala1650=)
c.3014C>A
c.4827C>A (p.Ala1609=)
c.4983C>A (p.Ala1661=)
12g.51806436C>GCA479788180SCN8Ac.4950C>G (p.Ala1650=)
c.3014C>G
c.4827C>G (p.Ala1609=)
c.4983C>G (p.Ala1661=)
12g.51806436C>TCA479788181SCN8Ac.4950C>T (p.Ala1650=)
c.3014C>T
c.4827C>T (p.Ala1609=)
c.4983C>T (p.Ala1661=)
12g.51806437C>ACA384880655SCN8Ac.4951C>A (p.Leu1651Met)
c.3015C>A
c.4828C>A (p.Leu1610Met)
c.4984C>A (p.Leu1662Met)
12g.51806437C>GCA384880657SCN8Ac.4951C>G (p.Leu1651Val)
c.3015C>G
c.4828C>G (p.Leu1610Val)
c.4984C>G (p.Leu1662Val)
12g.51806437C>TCA479788182SCN8Ac.4951C>T (p.Leu1651=)
c.3015C>T
c.4828C>T (p.Leu1610=)
c.4984C>T (p.Leu1662=)
COSMIC COSMIC
12g.51806438T>ACA384880660SCN8Ac.4952T>A (p.Leu1651Gln)
c.3016T>A
c.4829T>A (p.Leu1610Gln)
c.4985T>A (p.Leu1662Gln)
12g.51806438T>CCA384880662SCN8Ac.4952T>C (p.Leu1651Pro)
c.3016T>C
c.4829T>C (p.Leu1610Pro)
c.4985T>C (p.Leu1662Pro)
12g.51806438T>GCA384880664SCN8Ac.4952T>G (p.Leu1651Arg)
c.3016T>G
c.4829T>G (p.Leu1610Arg)
c.4985T>G (p.Leu1662Arg)
12g.51806439G>ACA479788183SCN8Ac.4953G>A (p.Leu1651=)
c.3017G>A
c.4830G>A (p.Leu1610=)
c.4986G>A (p.Leu1662=)
12g.51806439G>CCA479788184SCN8Ac.4953G>C (p.Leu1651=)
c.3017G>C
c.4830G>C (p.Leu1610=)
c.4986G>C (p.Leu1662=)
12g.51806439G=CA2036193114SCN8Ac.4953G= (p.Leu1651=)
c.3017G=
c.4830G= (p.Leu1610=)
c.4986G= (p.Leu1662=)
12g.51806439G>TCA479788185SCN8Ac.4953G>T (p.Leu1651=)
c.3017G>T
c.4830G>T (p.Leu1610=)
c.4986G>T (p.Leu1662=)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51806440T>ACA384880670SCN8Ac.4954T>A (p.Phe1652Ile)
c.3018T>A
c.4831T>A (p.Phe1611Ile)
c.4987T>A (p.Phe1663Ile)
12g.51806440T>CCA384880672SCN8Ac.4954T>C (p.Phe1652Leu)
c.3018T>C
c.4831T>C (p.Phe1611Leu)
c.4987T>C (p.Phe1663Leu)
12g.51806440T>GCA384880668SCN8Ac.4954T>G (p.Phe1652Val)
c.3018T>G
c.4831T>G (p.Phe1611Val)
c.4987T>G (p.Phe1663Val)
12g.51806441T>ACA384880676SCN8Ac.4955T>A (p.Phe1652Tyr)
c.3019T>A
c.4832T>A (p.Phe1611Tyr)
c.4988T>A (p.Phe1663Tyr)
12g.51806441T>CCA384880677SCN8Ac.4955T>C (p.Phe1652Ser)
c.3019T>C
c.4832T>C (p.Phe1611Ser)
c.4988T>C (p.Phe1663Ser)
12g.51806441T>GCA384880678SCN8Ac.4955T>G (p.Phe1652Cys)
c.3019T>G
c.4832T>G (p.Phe1611Cys)
c.4988T>G (p.Phe1663Cys)
12g.51806442C>ACA384880679SCN8Ac.4956C>A (p.Phe1652Leu)
c.3020C>A
c.4833C>A (p.Phe1611Leu)
c.4989C>A (p.Phe1663Leu)
12g.51806442C=CA2036193119SCN8Ac.4956C= (p.Phe1652=)
c.3020C=
c.4833C= (p.Phe1611=)
c.4989C= (p.Phe1663=)
12g.51806442C>GCA384880680SCN8Ac.4956C>G (p.Phe1652Leu)
c.3020C>G
c.4833C>G (p.Phe1611Leu)
c.4989C>G (p.Phe1663Leu)
12g.51806442C>TCA479788186SCN8Ac.4956C>T (p.Phe1652=)
c.3020C>T
c.4833C>T (p.Phe1611=)
c.4989C>T (p.Phe1663=)
dbSNP gnomAD v4
12g.51806443A>CCA384880681SCN8Ac.4957A>C (p.Asn1653His)
c.3021A>C
c.4834A>C (p.Asn1612His)
c.4990A>C (p.Asn1664His)
12g.51806443A>GCA384880682SCN8Ac.4957A>G (p.Asn1653Asp)
c.3021A>G
c.4834A>G (p.Asn1612Asp)
c.4990A>G (p.Asn1664Asp)
12g.51806443A>TCA384880684SCN8Ac.4957A>T (p.Asn1653Tyr)
c.3021A>T
c.4834A>T (p.Asn1612Tyr)
c.4990A>T (p.Asn1664Tyr)
12g.51806444A>CCA384880687SCN8Ac.4958A>C (p.Asn1653Thr)
c.3022A>C
c.4835A>C (p.Asn1612Thr)
c.4991A>C (p.Asn1664Thr)
12g.51806444A>GCA384880689SCN8Ac.4958A>G (p.Asn1653Ser)
c.3022A>G
c.4835A>G (p.Asn1612Ser)
c.4991A>G (p.Asn1664Ser)
ClinVar dbSNP
12g.51806444A>TCA384880692SCN8Ac.4958A>T (p.Asn1653Ile)
c.3022A>T
c.4835A>T (p.Asn1612Ile)
c.4991A>T (p.Asn1664Ile)
12g.51806445C>ACA384880693SCN8Ac.4959C>A (p.Asn1653Lys)
c.3023C>A
c.4836C>A (p.Asn1612Lys)
c.4992C>A (p.Asn1664Lys)
12g.51806445C>GCA384880695SCN8Ac.4959C>G (p.Asn1653Lys)
c.3023C>G
c.4836C>G (p.Asn1612Lys)
c.4992C>G (p.Asn1664Lys)
12g.51806445C>TCA479788187SCN8Ac.4959C>T (p.Asn1653=)
c.3023C>T
c.4836C>T (p.Asn1612=)
c.4992C>T (p.Asn1664=)
gnomAD v4
12g.51806446A>CCA384880696SCN8Ac.4960A>C (p.Ile1654Leu)
c.3024A>C
c.4837A>C (p.Ile1613Leu)
c.4993A>C (p.Ile1665Leu)
12g.51806446A>GCA384880698SCN8Ac.4960A>G (p.Ile1654Val)
c.3024A>G
c.4837A>G (p.Ile1613Val)
c.4993A>G (p.Ile1665Val)
12g.51806446A>TCA384880697SCN8Ac.4960A>T (p.Ile1654Phe)
c.3024A>T
c.4837A>T (p.Ile1613Phe)
c.4993A>T (p.Ile1665Phe)
12g.51806447T>ACA384880702SCN8Ac.4961T>A (p.Ile1654Asn)
c.3025T>A
c.4838T>A (p.Ile1613Asn)
c.4994T>A (p.Ile1665Asn)
12g.51806447T>CCA384880703SCN8Ac.4961T>C (p.Ile1654Thr)
c.3025T>C
c.4838T>C (p.Ile1613Thr)
c.4994T>C (p.Ile1665Thr)
COSMIC COSMIC
12g.51806447T>GCA384880706SCN8Ac.4961T>G (p.Ile1654Ser)
c.3025T>G
c.4838T>G (p.Ile1613Ser)
c.4994T>G (p.Ile1665Ser)
12g.51806448C>ACA480061745SCN8Ac.4962C>A (p.Ile1654=)
c.3026C>A
c.4839C>A (p.Ile1613=)
c.4995C>A (p.Ile1665=)
12g.51806448C=CA2036193124SCN8Ac.4962C= (p.Ile1654=)
c.3026C=
c.4839C= (p.Ile1613=)
c.4995C= (p.Ile1665=)
12g.51806448C>GCA384882042SCN8Ac.4962C>G (p.Ile1654Met)
c.3026C>G
c.4839C>G (p.Ile1613Met)
c.4995C>G (p.Ile1665Met)
12g.51806448C>TCA6571882SCN8Ac.4962C>T (p.Ile1654=)
c.3026C>T
c.4839C>T (p.Ile1613=)
c.4995C>T (p.Ile1665=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806449G>ACA384882049SCN8Ac.4963G>A (p.Gly1655Ser)
c.3027G>A
c.4840G>A (p.Gly1614Ser)
c.4996G>A (p.Gly1666Ser)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51806449G>CCA384882052SCN8Ac.4963G>C (p.Gly1655Arg)
c.3027G>C
c.4840G>C (p.Gly1614Arg)
c.4996G>C (p.Gly1666Arg)
12g.51806449G=CA2036193129SCN8Ac.4963G= (p.Gly1655=)
c.3027G=
c.4840G= (p.Gly1614=)
c.4996G= (p.Gly1666=)
12g.51806449G>TCA384882054SCN8Ac.4963G>T (p.Gly1655Cys)
c.3027G>T
c.4840G>T (p.Gly1614Cys)
c.4996G>T (p.Gly1666Cys)

Number of alleles fetched