Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806328C>ACA479788019SCN8Ac.4842C>A (p.Thr1614=)
c.2906C>A
c.4719C>A (p.Thr1573=)
c.4875C>A (p.Thr1625=)
12g.51806328C>GCA479788021SCN8Ac.4842C>G (p.Thr1614=)
c.2906C>G
c.4719C>G (p.Thr1573=)
c.4875C>G (p.Thr1625=)
12g.51806328C>TCA479788022SCN8Ac.4842C>T (p.Thr1614=)
c.2906C>T
c.4719C>T (p.Thr1573=)
c.4875C>T (p.Thr1625=)
 ClinVar dbSNP
12g.51806329C>ACA384880360SCN8Ac.4843C>A (p.Leu1615Ile)
c.2907C>A
c.4720C>A (p.Leu1574Ile)
c.4876C>A (p.Leu1626Ile)
12g.51806329C>GCA384880361SCN8Ac.4843C>G (p.Leu1615Val)
c.2907C>G
c.4720C>G (p.Leu1574Val)
c.4876C>G (p.Leu1626Val)
12g.51806329C>TCA479788023SCN8Ac.4843C>T (p.Leu1615=)
c.2907C>T
c.4720C>T (p.Leu1574=)
c.4876C>T (p.Leu1626=)
 gnomAD v4
12g.51806330T>ACA384880362SCN8Ac.4844T>A (p.Leu1615Gln)
c.2908T>A
c.4721T>A (p.Leu1574Gln)
c.4877T>A (p.Leu1626Gln)
12g.51806330T>CCA384880363SCN8Ac.4844T>C (p.Leu1615Pro)
c.2908T>C
c.4721T>C (p.Leu1574Pro)
c.4877T>C (p.Leu1626Pro)
12g.51806330T>GCA384880364SCN8Ac.4844T>G (p.Leu1615Arg)
c.2908T>G
c.4721T>G (p.Leu1574Arg)
c.4877T>G (p.Leu1626Arg)
12g.51806331A>CCA479788027SCN8Ac.4845A>C (p.Leu1615=)
c.2909A>C
c.4722A>C (p.Leu1574=)
c.4878A>C (p.Leu1626=)
12g.51806331A>GCA479788028SCN8Ac.4845A>G (p.Leu1615=)
c.2909A>G
c.4722A>G (p.Leu1574=)
c.4878A>G (p.Leu1626=)
12g.51806331A>TCA479788029SCN8Ac.4845A>T (p.Leu1615=)
c.2909A>T
c.4722A>T (p.Leu1574=)
c.4878A>T (p.Leu1626=)
12g.51806332T>ACA384880365SCN8Ac.4846T>A (p.Phe1616Ile)
c.2910T>A
c.4723T>A (p.Phe1575Ile)
c.4879T>A (p.Phe1627Ile)
12g.51806332T>CCA384880367SCN8Ac.4846T>C (p.Phe1616Leu)
c.2910T>C
c.4723T>C (p.Phe1575Leu)
c.4879T>C (p.Phe1627Leu)
12g.51806332T>GCA384880366SCN8Ac.4846T>G (p.Phe1616Val)
c.2910T>G
c.4723T>G (p.Phe1575Val)
c.4879T>G (p.Phe1627Val)
12g.51806333T>ACA384880368SCN8Ac.4847T>A (p.Phe1616Tyr)
c.2911T>A
c.4724T>A (p.Phe1575Tyr)
c.4880T>A (p.Phe1627Tyr)
12g.51806333T>CCA384880369SCN8Ac.4847T>C (p.Phe1616Ser)
c.2911T>C
c.4724T>C (p.Phe1575Ser)
c.4880T>C (p.Phe1627Ser)
12g.51806333T>GCA384880370SCN8Ac.4847T>G (p.Phe1616Cys)
c.2911T>G
c.4724T>G (p.Phe1575Cys)
c.4880T>G (p.Phe1627Cys)
12g.51806334C>ACA384880371SCN8Ac.4848C>A (p.Phe1616Leu)
c.2912C>A
c.4725C>A (p.Phe1575Leu)
c.4881C>A (p.Phe1627Leu)
12g.51806334C>GCA384880372SCN8Ac.4848C>G (p.Phe1616Leu)
c.2912C>G
c.4725C>G (p.Phe1575Leu)
c.4881C>G (p.Phe1627Leu)
12g.51806334C>TCA479788030SCN8Ac.4848C>T (p.Phe1616=)
c.2912C>T
c.4725C>T (p.Phe1575=)
c.4881C>T (p.Phe1627=)
12g.51806334_51806338delCA2739291672SCN8Ac.4848_4852del (p.Arg1617HisfsTer?)
c.2912_2916del
c.4725_4729del (p.Arg1576HisfsTer?)
c.4881_4885del (p.Arg1628HisfsTer?)
12g.51806335C>ACA479788032SCN8Ac.4849C>A (p.Arg1617=)
c.2913C>A
c.4726C>A (p.Arg1576=)
c.4882C>A (p.Arg1628=)
12g.51806335C=CA2036192768SCN8Ac.4849C= (p.Arg1617=)
c.2913C=
c.4726C= (p.Arg1576=)
c.4882C= (p.Arg1628=)
12g.51806335C>GCA384880373SCN8Ac.4849C>G (p.Arg1617Gly)
c.2913C>G
c.4726C>G (p.Arg1576Gly)
c.4882C>G (p.Arg1628Gly)
12g.51806335C>TCA6571874SCN8Ac.4849C>T (p.Arg1617Ter)
c.2913C>T
c.4726C>T (p.Arg1576Ter)
c.4882C>T (p.Arg1628Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806336G>ACA170757SCN8Ac.4850G>A (p.Arg1617Gln)
c.2914G>A
c.4727G>A (p.Arg1576Gln)
c.4883G>A (p.Arg1628Gln)
 ClinVar dbSNP
12g.51806336G>CCA384880374SCN8Ac.4850G>C (p.Arg1617Pro)
c.2914G>C
c.4727G>C (p.Arg1576Pro)
c.4883G>C (p.Arg1628Pro)
12g.51806336G=CA2036192779SCN8Ac.4850G= (p.Arg1617=)
c.2914G=
c.4727G= (p.Arg1576=)
c.4883G= (p.Arg1628=)
12g.51806336G>TCA384880375SCN8Ac.4850G>T (p.Arg1617Leu)
c.2914G>T
c.4727G>T (p.Arg1576Leu)
c.4883G>T (p.Arg1628Leu)
 ClinVar dbSNP
12g.51806337A>CCA479788035SCN8Ac.4851A>C (p.Arg1617=)
c.2915A>C
c.4728A>C (p.Arg1576=)
c.4884A>C (p.Arg1628=)
12g.51806337A>GCA479788033SCN8Ac.4851A>G (p.Arg1617=)
c.2915A>G
c.4728A>G (p.Arg1576=)
c.4884A>G (p.Arg1628=)
 gnomAD v4
12g.51806337A>TCA479788034SCN8Ac.4851A>T (p.Arg1617=)
c.2915A>T
c.4728A>T (p.Arg1576=)
c.4884A>T (p.Arg1628=)
12g.51806338G>ACA384880376SCN8Ac.4852G>A (p.Val1618Ile)
c.2916G>A
c.4729G>A (p.Val1577Ile)
c.4885G>A (p.Val1629Ile)
 COSMIC COSMIC
12g.51806338G>CCA384880378SCN8Ac.4852G>C (p.Val1618Leu)
c.2916G>C
c.4729G>C (p.Val1577Leu)
c.4885G>C (p.Val1629Leu)
12g.51806338G>TCA384880377SCN8Ac.4852G>T (p.Val1618Phe)
c.2916G>T
c.4729G>T (p.Val1577Phe)
c.4885G>T (p.Val1629Phe)
12g.51806339T>ACA384880379SCN8Ac.4853T>A (p.Val1618Asp)
c.2917T>A
c.4730T>A (p.Val1577Asp)
c.4886T>A (p.Val1629Asp)
12g.51806339T>CCA384880381SCN8Ac.4853T>C (p.Val1618Ala)
c.2917T>C
c.4730T>C (p.Val1577Ala)
c.4886T>C (p.Val1629Ala)
12g.51806339T>GCA384880380SCN8Ac.4853T>G (p.Val1618Gly)
c.2917T>G
c.4730T>G (p.Val1577Gly)
c.4886T>G (p.Val1629Gly)
12g.51806340C>ACA479788037SCN8Ac.4854C>A (p.Val1618=)
c.2918C>A
c.4731C>A (p.Val1577=)
c.4887C>A (p.Val1629=)
12g.51806340C>GCA479788040SCN8Ac.4854C>G (p.Val1618=)
c.2918C>G
c.4731C>G (p.Val1577=)
c.4887C>G (p.Val1629=)
12g.51806340C>TCA479788038SCN8Ac.4854C>T (p.Val1618=)
c.2918C>T
c.4731C>T (p.Val1577=)
c.4887C>T (p.Val1629=)
12g.51806341A=CA2036192790SCN8Ac.4855A= (p.Ile1619=)
c.2919A=
c.4732A= (p.Ile1578=)
c.4888A= (p.Ile1630=)
12g.51806341A>CCA384880382SCN8Ac.4855A>C (p.Ile1619Leu)
c.2919A>C
c.4732A>C (p.Ile1578Leu)
c.4888A>C (p.Ile1630Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.51806341A>GCA384880384SCN8Ac.4855A>G (p.Ile1619Val)
c.2919A>G
c.4732A>G (p.Ile1578Val)
c.4888A>G (p.Ile1630Val)
12g.51806341A>TCA384880383SCN8Ac.4855A>T (p.Ile1619Phe)
c.2919A>T
c.4732A>T (p.Ile1578Phe)
c.4888A>T (p.Ile1630Phe)
12g.51806342T>ACA384880385SCN8Ac.4856T>A (p.Ile1619Asn)
c.2920T>A
c.4733T>A (p.Ile1578Asn)
c.4889T>A (p.Ile1630Asn)
12g.51806342T>CCA384880386SCN8Ac.4856T>C (p.Ile1619Thr)
c.2920T>C
c.4733T>C (p.Ile1578Thr)
c.4889T>C (p.Ile1630Thr)
12g.51806342T>GCA384880387SCN8Ac.4856T>G (p.Ile1619Ser)
c.2920T>G
c.4733T>G (p.Ile1578Ser)
c.4889T>G (p.Ile1630Ser)
12g.51806343C>ACA479788042SCN8Ac.4857C>A (p.Ile1619=)
c.2921C>A
c.4734C>A (p.Ile1578=)
c.4890C>A (p.Ile1630=)
 gnomAD v4

Number of alleles fetched