Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
12g.51806399G=CA2036193011SCN8Ac.4913G= (p.Arg1638=)
c.2977G=
c.4790G= (p.Arg1597=)
c.4946G= (p.Arg1649=)
12g.51806399G>TCA384880503SCN8Ac.4913G>T (p.Arg1638Leu)
c.2977G>T
c.4790G>T (p.Arg1597Leu)
c.4946G>T (p.Arg1649Leu)
12g.51806400T>ACA479788144SCN8Ac.4914T>A (p.Arg1638=)
c.2978T>A
c.4791T>A (p.Arg1597=)
c.4947T>A (p.Arg1649=)
12g.51806400T>CCA479788145SCN8Ac.4914T>C (p.Arg1638=)
c.2978T>C
c.4791T>C (p.Arg1597=)
c.4947T>C (p.Arg1649=)
12g.51806400T>GCA479788146SCN8Ac.4914T>G (p.Arg1638=)
c.2978T>G
c.4791T>G (p.Arg1597=)
c.4947T>G (p.Arg1649=)
12g.51806401A>CCA384880504SCN8Ac.4915A>C (p.Thr1639Pro)
c.2979A>C
c.4792A>C (p.Thr1598Pro)
c.4948A>C (p.Thr1650Pro)
12g.51806401A>GCA384880505SCN8Ac.4915A>G (p.Thr1639Ala)
c.2979A>G
c.4792A>G (p.Thr1598Ala)
c.4948A>G (p.Thr1650Ala)
12g.51806401A>TCA384880506SCN8Ac.4915A>T (p.Thr1639Ser)
c.2979A>T
c.4792A>T (p.Thr1598Ser)
c.4948A>T (p.Thr1650Ser)
12g.51806402C>ACA384880507SCN8Ac.4916C>A (p.Thr1639Asn)
c.2980C>A
c.4793C>A (p.Thr1598Asn)
c.4949C>A (p.Thr1650Asn)
12g.51806402C>GCA384880508SCN8Ac.4916C>G (p.Thr1639Ser)
c.2980C>G
c.4793C>G (p.Thr1598Ser)
c.4949C>G (p.Thr1650Ser)
 ClinVar
12g.51806402C>TCA384880509SCN8Ac.4916C>T (p.Thr1639Ile)
c.2980C>T
c.4793C>T (p.Thr1598Ile)
c.4949C>T (p.Thr1650Ile)
 ClinVar dbSNP
12g.51806403C>ACA479788151SCN8Ac.4917C>A (p.Thr1639=)
c.2981C>A
c.4794C>A (p.Thr1598=)
c.4950C>A (p.Thr1650=)
12g.51806403C>GCA479788149SCN8Ac.4917C>G (p.Thr1639=)
c.2981C>G
c.4794C>G (p.Thr1598=)
c.4950C>G (p.Thr1650=)
12g.51806403C>TCA479788150SCN8Ac.4917C>T (p.Thr1639=)
c.2981C>T
c.4794C>T (p.Thr1598=)
c.4950C>T (p.Thr1650=)
12g.51806404C>ACA384880510SCN8Ac.4918C>A (p.Leu1640Met)
c.2982C>A
c.4795C>A (p.Leu1599Met)
c.4951C>A (p.Leu1651Met)
12g.51806404C>GCA384880511SCN8Ac.4918C>G (p.Leu1640Val)
c.2982C>G
c.4795C>G (p.Leu1599Val)
c.4951C>G (p.Leu1651Val)
12g.51806404C>TCA479788152SCN8Ac.4918C>T (p.Leu1640=)
c.2982C>T
c.4795C>T (p.Leu1599=)
c.4951C>T (p.Leu1651=)
12g.51806405T>ACA384880514SCN8Ac.4919T>A (p.Leu1640Gln)
c.2983T>A
c.4796T>A (p.Leu1599Gln)
c.4952T>A (p.Leu1651Gln)
12g.51806405T>CCA384880513SCN8Ac.4919T>C (p.Leu1640Pro)
c.2983T>C
c.4796T>C (p.Leu1599Pro)
c.4952T>C (p.Leu1651Pro)
12g.51806405T>GCA384880512SCN8Ac.4919T>G (p.Leu1640Arg)
c.2983T>G
c.4796T>G (p.Leu1599Arg)
c.4952T>G (p.Leu1651Arg)
12g.51806406G>ACA479788156SCN8Ac.4920G>A (p.Leu1640=)
c.2984G>A
c.4797G>A (p.Leu1599=)
c.4953G>A (p.Leu1651=)
12g.51806406G>CCA479788157SCN8Ac.4920G>C (p.Leu1640=)
c.2984G>C
c.4797G>C (p.Leu1599=)
c.4953G>C (p.Leu1651=)
12g.51806406G>TCA479788158SCN8Ac.4920G>T (p.Leu1640=)
c.2984G>T
c.4797G>T (p.Leu1599=)
c.4953G>T (p.Leu1651=)
12g.51806407C>ACA384880515SCN8Ac.4921C>A (p.Leu1641Ile)
c.2985C>A
c.4798C>A (p.Leu1600Ile)
c.4954C>A (p.Leu1652Ile)
12g.51806407C>GCA384880516SCN8Ac.4921C>G (p.Leu1641Val)
c.2985C>G
c.4798C>G (p.Leu1600Val)
c.4954C>G (p.Leu1652Val)
12g.51806407C>TCA384880517SCN8Ac.4921C>T (p.Leu1641Phe)
c.2985C>T
c.4798C>T (p.Leu1600Phe)
c.4954C>T (p.Leu1652Phe)
12g.51806408T>ACA384880518SCN8Ac.4922T>A (p.Leu1641His)
c.2986T>A
c.4799T>A (p.Leu1600His)
c.4955T>A (p.Leu1652His)
12g.51806408T>CCA384880519SCN8Ac.4922T>C (p.Leu1641Pro)
c.2986T>C
c.4799T>C (p.Leu1600Pro)
c.4955T>C (p.Leu1652Pro)

Number of alleles fetched