Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806385C>ACA479788119SCN8Ac.4899C>A (p.Gly1633=)
c.2963C>A
c.4776C>A (p.Gly1592=)
c.4932C>A (p.Gly1644=)
12g.51806385C=CA2036192980SCN8Ac.4899C= (p.Gly1633=)
c.2963C=
c.4776C= (p.Gly1592=)
c.4932C= (p.Gly1644=)
12g.51806385C>GCA479788121SCN8Ac.4899C>G (p.Gly1633=)
c.2963C>G
c.4776C>G (p.Gly1592=)
c.4932C>G (p.Gly1644=)
12g.51806385C>TCA6571879SCN8Ac.4899C>T (p.Gly1633=)
c.2963C>T
c.4776C>T (p.Gly1592=)
c.4932C>T (p.Gly1644=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806386G>ACA236327392SCN8Ac.4900G>A (p.Ala1634Thr)
c.2964G>A
c.4777G>A (p.Ala1593Thr)
c.4933G>A (p.Ala1645Thr)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.51806386G>CCA384880470SCN8Ac.4900G>C (p.Ala1634Pro)
c.2964G>C
c.4777G>C (p.Ala1593Pro)
c.4933G>C (p.Ala1645Pro)
12g.51806386G=CA2036192988SCN8Ac.4900G= (p.Ala1634=)
c.2964G=
c.4777G= (p.Ala1593=)
c.4933G= (p.Ala1645=)
12g.51806386G>TCA384880471SCN8Ac.4900G>T (p.Ala1634Ser)
c.2964G>T
c.4777G>T (p.Ala1593Ser)
c.4933G>T (p.Ala1645Ser)
12g.51806387C>ACA384880473SCN8Ac.4901C>A (p.Ala1634Asp)
c.2965C>A
c.4778C>A (p.Ala1593Asp)
c.4934C>A (p.Ala1645Asp)
12g.51806387C>GCA384880474SCN8Ac.4901C>G (p.Ala1634Gly)
c.2965C>G
c.4778C>G (p.Ala1593Gly)
c.4934C>G (p.Ala1645Gly)
12g.51806387C>TCA384880472SCN8Ac.4901C>T (p.Ala1634Val)
c.2965C>T
c.4778C>T (p.Ala1593Val)
c.4934C>T (p.Ala1645Val)
 COSMIC COSMIC
12g.51806388delCA2512898859SCN8Ac.4902del (p.Ile1637PhefsTer8)
c.2966del
c.4779del (p.Ile1596PhefsTer8)
c.4935del (p.Ile1648PhefsTer8)
12g.51806388C>ACA479788122SCN8Ac.4902C>A (p.Ala1634=)
c.2966C>A
c.4779C>A (p.Ala1593=)
c.4935C>A (p.Ala1645=)
12g.51806388C>GCA479788123SCN8Ac.4902C>G (p.Ala1634=)
c.2966C>G
c.4779C>G (p.Ala1593=)
c.4935C>G (p.Ala1645=)
12g.51806388C>TCA479788124SCN8Ac.4902C>T (p.Ala1634=)
c.2966C>T
c.4779C>T (p.Ala1593=)
c.4935C>T (p.Ala1645=)
12g.51806389A=CA2036192993SCN8Ac.4903A= (p.Lys1635=)
c.2967A=
c.4780A= (p.Lys1594=)
c.4936A= (p.Lys1646=)
12g.51806389A>CCA384880475SCN8Ac.4903A>C (p.Lys1635Gln)
c.2967A>C
c.4780A>C (p.Lys1594Gln)
c.4936A>C (p.Lys1646Gln)
12g.51806389A>GCA384880476SCN8Ac.4903A>G (p.Lys1635Glu)
c.2967A>G
c.4780A>G (p.Lys1594Glu)
c.4936A>G (p.Lys1646Glu)
12g.51806389A>TCA384880477SCN8Ac.4903A>T (p.Lys1635Ter)
c.2967A>T
c.4780A>T (p.Lys1594Ter)
c.4936A>T (p.Lys1646Ter)
 dbSNP
12g.51806390A>CCA384880478SCN8Ac.4904A>C (p.Lys1635Thr)
c.2968A>C
c.4781A>C (p.Lys1594Thr)
c.4937A>C (p.Lys1646Thr)
12g.51806390A>GCA384880479SCN8Ac.4904A>G (p.Lys1635Arg)
c.2968A>G
c.4781A>G (p.Lys1594Arg)
c.4937A>G (p.Lys1646Arg)
12g.51806390A>TCA384880480SCN8Ac.4904A>T (p.Lys1635Ile)
c.2968A>T
c.4781A>T (p.Lys1594Ile)
c.4937A>T (p.Lys1646Ile)
12g.51806391A>CCA384880482SCN8Ac.4905A>C (p.Lys1635Asn)
c.2969A>C
c.4782A>C (p.Lys1594Asn)
c.4938A>C (p.Lys1646Asn)
12g.51806391A>GCA479788127SCN8Ac.4905A>G (p.Lys1635=)
c.2969A>G
c.4782A>G (p.Lys1594=)
c.4938A>G (p.Lys1646=)
12g.51806391A>TCA384880481SCN8Ac.4905A>T (p.Lys1635Asn)
c.2969A>T
c.4782A>T (p.Lys1594Asn)
c.4938A>T (p.Lys1646Asn)
12g.51806392G>ACA384880483SCN8Ac.4906G>A (p.Gly1636Arg)
c.2970G>A
c.4783G>A (p.Gly1595Arg)
c.4939G>A (p.Gly1647Arg)
12g.51806392G>CCA384880484SCN8Ac.4906G>C (p.Gly1636Arg)
c.2970G>C
c.4783G>C (p.Gly1595Arg)
c.4939G>C (p.Gly1647Arg)
12g.51806392G>TCA384880485SCN8Ac.4906G>T (p.Gly1636Trp)
c.2970G>T
c.4783G>T (p.Gly1595Trp)
c.4939G>T (p.Gly1647Trp)
12g.51806393G>ACA384880486SCN8Ac.4907G>A (p.Gly1636Glu)
c.2971G>A
c.4784G>A (p.Gly1595Glu)
c.4940G>A (p.Gly1647Glu)
12g.51806393G>CCA384880487SCN8Ac.4907G>C (p.Gly1636Ala)
c.2971G>C
c.4784G>C (p.Gly1595Ala)
c.4940G>C (p.Gly1647Ala)
12g.51806393G>TCA384880488SCN8Ac.4907G>T (p.Gly1636Val)
c.2971G>T
c.4784G>T (p.Gly1595Val)
c.4940G>T (p.Gly1647Val)
12g.51806394G>ACA479788130SCN8Ac.4908G>A (p.Gly1636=)
c.2972G>A
c.4785G>A (p.Gly1595=)
c.4941G>A (p.Gly1647=)
12g.51806394G>CCA479788131SCN8Ac.4908G>C (p.Gly1636=)
c.2972G>C
c.4785G>C (p.Gly1595=)
c.4941G>C (p.Gly1647=)
12g.51806394G>TCA479788132SCN8Ac.4908G>T (p.Gly1636=)
c.2972G>T
c.4785G>T (p.Gly1595=)
c.4941G>T (p.Gly1647=)
 gnomAD v4
12g.51806395A>CCA384880489SCN8Ac.4909A>C (p.Ile1637Leu)
c.2973A>C
c.4786A>C (p.Ile1596Leu)
c.4942A>C (p.Ile1648Leu)
12g.51806395A>GCA384880491SCN8Ac.4909A>G (p.Ile1637Val)
c.2973A>G
c.4786A>G (p.Ile1596Val)
c.4942A>G (p.Ile1648Val)
12g.51806395A>TCA384880490SCN8Ac.4909A>T (p.Ile1637Phe)
c.2973A>T
c.4786A>T (p.Ile1596Phe)
c.4942A>T (p.Ile1648Phe)
12g.51806395dupCA2540407650SCN8Ac.4909dup (p.Ile1637AsnfsTer?)
c.2973dup
c.4786dup (p.Ile1596AsnfsTer?)
c.4942dup (p.Ile1648AsnfsTer?)
12g.51806396T>ACA384880492SCN8Ac.4910T>A (p.Ile1637Asn)
c.2974T>A
c.4787T>A (p.Ile1596Asn)
c.4943T>A (p.Ile1648Asn)
12g.51806396T>CCA384880494SCN8Ac.4910T>C (p.Ile1637Thr)
c.2974T>C
c.4787T>C (p.Ile1596Thr)
c.4943T>C (p.Ile1648Thr)
12g.51806396T>GCA384880493SCN8Ac.4910T>G (p.Ile1637Ser)
c.2974T>G
c.4787T>G (p.Ile1596Ser)
c.4943T>G (p.Ile1648Ser)
12g.51806397T>ACA479788140SCN8Ac.4911T>A (p.Ile1637=)
c.2975T>A
c.4788T>A (p.Ile1596=)
c.4944T>A (p.Ile1648=)
12g.51806397T>CCA479788139SCN8Ac.4911T>C (p.Ile1637=)
c.2975T>C
c.4788T>C (p.Ile1596=)
c.4944T>C (p.Ile1648=)
12g.51806397T>GCA384880496SCN8Ac.4911T>G (p.Ile1637Met)
c.2975T>G
c.4788T>G (p.Ile1596Met)
c.4944T>G (p.Ile1648Met)
 ClinVar dbSNP
12g.51806398C>ACA384880500SCN8Ac.4912C>A (p.Arg1638Ser)
c.2976C>A
c.4789C>A (p.Arg1597Ser)
c.4945C>A (p.Arg1649Ser)
12g.51806398C=CA2036193000SCN8Ac.4912C= (p.Arg1638=)
c.2976C=
c.4789C= (p.Arg1597=)
c.4945C= (p.Arg1649=)
12g.51806398C>GCA384880499SCN8Ac.4912C>G (p.Arg1638Gly)
c.2976C>G
c.4789C>G (p.Arg1597Gly)
c.4945C>G (p.Arg1649Gly)
12g.51806398C>TCA384880501SCN8Ac.4912C>T (p.Arg1638Cys)
c.2976C>T
c.4789C>T (p.Arg1597Cys)
c.4945C>T (p.Arg1649Cys)
 ClinVar dbSNP
12g.51806399G>ACA16619564SCN8Ac.4913G>A (p.Arg1638His)
c.2977G>A
c.4790G>A (p.Arg1597His)
c.4946G>A (p.Arg1649His)
 ClinVar dbSNP
12g.51806399G>CCA384880502SCN8Ac.4913G>C (p.Arg1638Pro)
c.2977G>C
c.4790G>C (p.Arg1597Pro)
c.4946G>C (p.Arg1649Pro)

Number of alleles fetched