Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806322C>ACA479788012SCN8Ac.4836C>A (p.Ser1612=)
c.2900C>A
c.4713C>A (p.Ser1571=)
c.4869C>A (p.Ser1623=)
12g.51806322C>GCA479788013SCN8Ac.4836C>G (p.Ser1612=)
c.2900C>G
c.4713C>G (p.Ser1571=)
c.4869C>G (p.Ser1623=)
12g.51806322C>TCA479788014SCN8Ac.4836C>T (p.Ser1612=)
c.2900C>T
c.4713C>T (p.Ser1571=)
c.4869C>T (p.Ser1623=)
 ClinVar dbSNP gnomAD v4
12g.51806323C>ACA384880349SCN8Ac.4837C>A (p.Pro1613Thr)
c.2901C>A
c.4714C>A (p.Pro1572Thr)
c.4870C>A (p.Pro1624Thr)
 gnomAD v4
12g.51806323C=CA2036192749SCN8Ac.4837C= (p.Pro1613=)
c.2901C=
c.4714C= (p.Pro1572=)
c.4870C= (p.Pro1624=)
12g.51806323C>GCA236327317SCN8Ac.4837C>G (p.Pro1613Ala)
c.2901C>G
c.4714C>G (p.Pro1572Ala)
c.4870C>G (p.Pro1624Ala)
 dbSNP
12g.51806323C>TCA384880350SCN8Ac.4837C>T (p.Pro1613Ser)
c.2901C>T
c.4714C>T (p.Pro1572Ser)
c.4870C>T (p.Pro1624Ser)
 COSMIC COSMIC
12g.51806324C>ACA384880351SCN8Ac.4838C>A (p.Pro1613Gln)
c.2902C>A
c.4715C>A (p.Pro1572Gln)
c.4871C>A (p.Pro1624Gln)
 gnomAD v4
12g.51806324C>GCA384880352SCN8Ac.4838C>G (p.Pro1613Arg)
c.2902C>G
c.4715C>G (p.Pro1572Arg)
c.4871C>G (p.Pro1624Arg)
12g.51806324C>TCA384880353SCN8Ac.4838C>T (p.Pro1613Leu)
c.2902C>T
c.4715C>T (p.Pro1572Leu)
c.4871C>T (p.Pro1624Leu)
12g.51806325A=CA2036192753SCN8Ac.4839A= (p.Pro1613=)
c.2903A=
c.4716A= (p.Pro1572=)
c.4872A= (p.Pro1624=)
12g.51806325A>CCA479788015SCN8Ac.4839A>C (p.Pro1613=)
c.2903A>C
c.4716A>C (p.Pro1572=)
c.4872A>C (p.Pro1624=)
12g.51806325A>GCA479788016SCN8Ac.4839A>G (p.Pro1613=)
c.2903A>G
c.4716A>G (p.Pro1572=)
c.4872A>G (p.Pro1624=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806325A>TCA479788017SCN8Ac.4839A>T (p.Pro1613=)
c.2903A>T
c.4716A>T (p.Pro1572=)
c.4872A>T (p.Pro1624=)
12g.51806326A=CA2036192756SCN8Ac.4840A= (p.Thr1614=)
c.2904A=
c.4717A= (p.Thr1573=)
c.4873A= (p.Thr1625=)
12g.51806326A>CCA384880354SCN8Ac.4840A>C (p.Thr1614Pro)
c.2904A>C
c.4717A>C (p.Thr1573Pro)
c.4873A>C (p.Thr1625Pro)
12g.51806326A>GCA384880355SCN8Ac.4840A>G (p.Thr1614Ala)
c.2904A>G
c.4717A>G (p.Thr1573Ala)
c.4873A>G (p.Thr1625Ala)
 ClinVar dbSNP
12g.51806326A>TCA384880356SCN8Ac.4840A>T (p.Thr1614Ser)
c.2904A>T
c.4717A>T (p.Thr1573Ser)
c.4873A>T (p.Thr1625Ser)
12g.51806327C>ACA384880359SCN8Ac.4841C>A (p.Thr1614Asn)
c.2905C>A
c.4718C>A (p.Thr1573Asn)
c.4874C>A (p.Thr1625Asn)
 ClinVar
12g.51806327C>GCA384880357SCN8Ac.4841C>G (p.Thr1614Ser)
c.2905C>G
c.4718C>G (p.Thr1573Ser)
c.4874C>G (p.Thr1625Ser)
12g.51806327C>TCA384880358SCN8Ac.4841C>T (p.Thr1614Ile)
c.2905C>T
c.4718C>T (p.Thr1573Ile)
c.4874C>T (p.Thr1625Ile)
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=)

Number of alleles fetched