Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806375T>ACA384880447SCN8Ac.4766T>A (p.Leu1589Gln)
c.4889T>A (p.Leu1630Gln)
n.4766T>A (p.Leu1589Gln)
n.4922T>A (p.Leu1641Gln)
n.4889T>A (p.Leu1630Gln)
12g.51806375T>CCA318288SCN8Ac.4766T>C (p.Leu1589Pro)
c.4889T>C (p.Leu1630Pro)
n.4766T>C (p.Leu1589Pro)
n.4922T>C (p.Leu1641Pro)
n.4889T>C (p.Leu1630Pro)
dbSNP
12g.51806375T>GCA384880448SCN8Ac.4766T>G (p.Leu1589Arg)
c.4889T>G (p.Leu1630Arg)
n.4766T>G (p.Leu1589Arg)
n.4922T>G (p.Leu1641Arg)
n.4889T>G (p.Leu1630Arg)
12g.51806376G>ACA479788105SCN8Ac.4767G>A (p.Leu1589=)
c.4890G>A (p.Leu1630=)
n.4767G>A (p.Leu1589=)
n.4923G>A (p.Leu1641=)
n.4890G>A (p.Leu1630=)
12g.51806376G>CCA479788106SCN8Ac.4767G>C (p.Leu1589=)
c.4890G>C (p.Leu1630=)
n.4767G>C (p.Leu1589=)
n.4923G>C (p.Leu1641=)
n.4890G>C (p.Leu1630=)
12g.51806376G>TCA479788104SCN8Ac.4767G>T (p.Leu1589=)
c.4890G>T (p.Leu1630=)
n.4767G>T (p.Leu1589=)
n.4923G>T (p.Leu1641=)
n.4890G>T (p.Leu1630=)
12g.51806377A>CCA384880449SCN8Ac.4768A>C (p.Ile1590Leu)
c.4891A>C (p.Ile1631Leu)
n.4768A>C (p.Ile1590Leu)
n.4924A>C (p.Ile1642Leu)
n.4891A>C (p.Ile1631Leu)
12g.51806377A>GCA384880450SCN8Ac.4768A>G (p.Ile1590Val)
c.4891A>G (p.Ile1631Val)
n.4768A>G (p.Ile1590Val)
n.4924A>G (p.Ile1642Val)
n.4891A>G (p.Ile1631Val)
12g.51806377A>TCA384880451SCN8Ac.4768A>T (p.Ile1590Phe)
c.4891A>T (p.Ile1631Phe)
n.4768A>T (p.Ile1590Phe)
n.4924A>T (p.Ile1642Phe)
n.4891A>T (p.Ile1631Phe)
12g.51806378T>ACA384880452SCN8Ac.4769T>A (p.Ile1590Asn)
c.4892T>A (p.Ile1631Asn)
n.4769T>A (p.Ile1590Asn)
n.4925T>A (p.Ile1642Asn)
n.4892T>A (p.Ile1631Asn)
ClinVar
12g.51806378T>CCA384880453SCN8Ac.4769T>C (p.Ile1590Thr)
c.4892T>C (p.Ile1631Thr)
n.4769T>C (p.Ile1590Thr)
n.4925T>C (p.Ile1642Thr)
n.4892T>C (p.Ile1631Thr)
ClinVar
12g.51806378T>GCA384880454SCN8Ac.4769T>G (p.Ile1590Ser)
c.4892T>G (p.Ile1631Ser)
n.4769T>G (p.Ile1590Ser)
n.4925T>G (p.Ile1642Ser)
n.4892T>G (p.Ile1631Ser)
12g.51806379C>ACA479788112SCN8Ac.4770C>A (p.Ile1590=)
c.4893C>A (p.Ile1631=)
n.4770C>A (p.Ile1590=)
n.4926C>A (p.Ile1642=)
n.4893C>A (p.Ile1631=)
12g.51806379C>GCA384880455SCN8Ac.4770C>G (p.Ile1590Met)
c.4893C>G (p.Ile1631Met)
n.4770C>G (p.Ile1590Met)
n.4926C>G (p.Ile1642Met)
n.4893C>G (p.Ile1631Met)
COSMIC COSMIC
12g.51806379C>TCA479788111SCN8Ac.4770C>T (p.Ile1590=)
c.4893C>T (p.Ile1631=)
n.4770C>T (p.Ile1590=)
n.4926C>T (p.Ile1642=)
n.4893C>T (p.Ile1631=)
12g.51806380A>CCA384880456SCN8Ac.4771A>C (p.Lys1591Gln)
c.4894A>C (p.Lys1632Gln)
n.4771A>C (p.Lys1591Gln)
n.4927A>C (p.Lys1643Gln)
n.4894A>C (p.Lys1632Gln)
12g.51806380A>GCA384880457SCN8Ac.4771A>G (p.Lys1591Glu)
c.4894A>G (p.Lys1632Glu)
n.4771A>G (p.Lys1591Glu)
n.4927A>G (p.Lys1643Glu)
n.4894A>G (p.Lys1632Glu)
12g.51806380A>TCA384880458SCN8Ac.4771A>T (p.Lys1591Ter)
c.4894A>T (p.Lys1632Ter)
n.4771A>T (p.Lys1591Ter)
n.4927A>T (p.Lys1643Ter)
n.4894A>T (p.Lys1632Ter)
12g.51806381A>CCA384880460SCN8Ac.4772A>C (p.Lys1591Thr)
c.4895A>C (p.Lys1632Thr)
n.4772A>C (p.Lys1591Thr)
n.4928A>C (p.Lys1643Thr)
n.4895A>C (p.Lys1632Thr)
12g.51806381A>GCA384880461SCN8Ac.4772A>G (p.Lys1591Arg)
c.4895A>G (p.Lys1632Arg)
n.4772A>G (p.Lys1591Arg)
n.4928A>G (p.Lys1643Arg)
n.4895A>G (p.Lys1632Arg)
12g.51806381A>TCA384880459SCN8Ac.4772A>T (p.Lys1591Ile)
c.4895A>T (p.Lys1632Ile)
n.4772A>T (p.Lys1591Ile)
n.4928A>T (p.Lys1643Ile)
n.4895A>T (p.Lys1632Ile)
12g.51806382A>CCA384880462SCN8Ac.4773A>C (p.Lys1591Asn)
c.4896A>C (p.Lys1632Asn)
n.4773A>C (p.Lys1591Asn)
n.4929A>C (p.Lys1643Asn)
n.4896A>C (p.Lys1632Asn)
12g.51806382A>GCA479788114SCN8Ac.4773A>G (p.Lys1591=)
c.4896A>G (p.Lys1632=)
n.4773A>G (p.Lys1591=)
n.4929A>G (p.Lys1643=)
n.4896A>G (p.Lys1632=)
12g.51806382A>TCA384880463SCN8Ac.4773A>T (p.Lys1591Asn)
c.4896A>T (p.Lys1632Asn)
n.4773A>T (p.Lys1591Asn)
n.4929A>T (p.Lys1643Asn)
n.4896A>T (p.Lys1632Asn)
12g.51806383G>ACA384880464SCN8Ac.4774G>A (p.Gly1592Ser)
c.4897G>A (p.Gly1633Ser)
n.4774G>A (p.Gly1592Ser)
n.4930G>A (p.Gly1644Ser)
n.4897G>A (p.Gly1633Ser)
12g.51806383G>CCA384880465SCN8Ac.4774G>C (p.Gly1592Arg)
c.4897G>C (p.Gly1633Arg)
n.4774G>C (p.Gly1592Arg)
n.4930G>C (p.Gly1644Arg)
n.4897G>C (p.Gly1633Arg)
12g.51806383G>TCA384880466SCN8Ac.4774G>T (p.Gly1592Cys)
c.4897G>T (p.Gly1633Cys)
n.4774G>T (p.Gly1592Cys)
n.4930G>T (p.Gly1644Cys)
n.4897G>T (p.Gly1633Cys)
12g.51806384G>ACA384880467SCN8Ac.4775G>A (p.Gly1592Asp)
c.4898G>A (p.Gly1633Asp)
n.4775G>A (p.Gly1592Asp)
n.4931G>A (p.Gly1644Asp)
n.4898G>A (p.Gly1633Asp)
12g.51806384G>CCA384880468SCN8Ac.4775G>C (p.Gly1592Ala)
c.4898G>C (p.Gly1633Ala)
n.4775G>C (p.Gly1592Ala)
n.4931G>C (p.Gly1644Ala)
n.4898G>C (p.Gly1633Ala)
12g.51806384G>TCA384880469SCN8Ac.4775G>T (p.Gly1592Val)
c.4898G>T (p.Gly1633Val)
n.4775G>T (p.Gly1592Val)
n.4931G>T (p.Gly1644Val)
n.4898G>T (p.Gly1633Val)
12g.51806385C>ACA479788119SCN8Ac.4776C>A (p.Gly1592=)
c.4899C>A (p.Gly1633=)
n.4776C>A (p.Gly1592=)
n.4932C>A (p.Gly1644=)
n.4899C>A (p.Gly1633=)
12g.51806385C>GCA479788121SCN8Ac.4776C>G (p.Gly1592=)
c.4899C>G (p.Gly1633=)
n.4776C>G (p.Gly1592=)
n.4932C>G (p.Gly1644=)
n.4899C>G (p.Gly1633=)
12g.51806385C>TCA6571879SCN8Ac.4776C>T (p.Gly1592=)
c.4899C>T (p.Gly1633=)
n.4776C>T (p.Gly1592=)
n.4932C>T (p.Gly1644=)
n.4899C>T (p.Gly1633=)
ClinVar dbSNP ExAC gnomAD
12g.51806386G>ACA236327392SCN8Ac.4777G>A (p.Ala1593Thr)
c.4900G>A (p.Ala1634Thr)
n.4777G>A (p.Ala1593Thr)
n.4933G>A (p.Ala1645Thr)
n.4900G>A (p.Ala1634Thr)
dbSNP COSMIC COSMIC
12g.51806386G>CCA384880470SCN8Ac.4777G>C (p.Ala1593Pro)
c.4900G>C (p.Ala1634Pro)
n.4777G>C (p.Ala1593Pro)
n.4933G>C (p.Ala1645Pro)
n.4900G>C (p.Ala1634Pro)
12g.51806386G>TCA384880471SCN8Ac.4777G>T (p.Ala1593Ser)
c.4900G>T (p.Ala1634Ser)
n.4777G>T (p.Ala1593Ser)
n.4933G>T (p.Ala1645Ser)
n.4900G>T (p.Ala1634Ser)
12g.51806387C>ACA384880473SCN8Ac.4778C>A (p.Ala1593Asp)
c.4901C>A (p.Ala1634Asp)
n.4778C>A (p.Ala1593Asp)
n.4934C>A (p.Ala1645Asp)
n.4901C>A (p.Ala1634Asp)
12g.51806387C>GCA384880474SCN8Ac.4778C>G (p.Ala1593Gly)
c.4901C>G (p.Ala1634Gly)
n.4778C>G (p.Ala1593Gly)
n.4934C>G (p.Ala1645Gly)
n.4901C>G (p.Ala1634Gly)
12g.51806387C>TCA384880472SCN8Ac.4778C>T (p.Ala1593Val)
c.4901C>T (p.Ala1634Val)
n.4778C>T (p.Ala1593Val)
n.4934C>T (p.Ala1645Val)
n.4901C>T (p.Ala1634Val)
COSMIC COSMIC
12g.51806388C>ACA479788122SCN8Ac.4779C>A (p.Ala1593=)
c.4902C>A (p.Ala1634=)
n.4779C>A (p.Ala1593=)
n.4935C>A (p.Ala1645=)
n.4902C>A (p.Ala1634=)
12g.51806388C>GCA479788123SCN8Ac.4779C>G (p.Ala1593=)
c.4902C>G (p.Ala1634=)
n.4779C>G (p.Ala1593=)
n.4935C>G (p.Ala1645=)
n.4902C>G (p.Ala1634=)
12g.51806388C>TCA479788124SCN8Ac.4779C>T (p.Ala1593=)
c.4902C>T (p.Ala1634=)
n.4779C>T (p.Ala1593=)
n.4935C>T (p.Ala1645=)
n.4902C>T (p.Ala1634=)
12g.51806389A>CCA384880475SCN8Ac.4780A>C (p.Lys1594Gln)
c.4903A>C (p.Lys1635Gln)
n.4780A>C (p.Lys1594Gln)
n.4936A>C (p.Lys1646Gln)
n.4903A>C (p.Lys1635Gln)
12g.51806389A>GCA384880476SCN8Ac.4780A>G (p.Lys1594Glu)
c.4903A>G (p.Lys1635Glu)
n.4780A>G (p.Lys1594Glu)
n.4936A>G (p.Lys1646Glu)
n.4903A>G (p.Lys1635Glu)
12g.51806389A>TCA384880477SCN8Ac.4780A>T (p.Lys1594Ter)
c.4903A>T (p.Lys1635Ter)
n.4780A>T (p.Lys1594Ter)
n.4936A>T (p.Lys1646Ter)
n.4903A>T (p.Lys1635Ter)
12g.51806390A>CCA384880478SCN8Ac.4781A>C (p.Lys1594Thr)
c.4904A>C (p.Lys1635Thr)
n.4781A>C (p.Lys1594Thr)
n.4937A>C (p.Lys1646Thr)
n.4904A>C (p.Lys1635Thr)
12g.51806390A>GCA384880479SCN8Ac.4781A>G (p.Lys1594Arg)
c.4904A>G (p.Lys1635Arg)
n.4781A>G (p.Lys1594Arg)
n.4937A>G (p.Lys1646Arg)
n.4904A>G (p.Lys1635Arg)
12g.51806390A>TCA384880480SCN8Ac.4781A>T (p.Lys1594Ile)
c.4904A>T (p.Lys1635Ile)
n.4781A>T (p.Lys1594Ile)
n.4937A>T (p.Lys1646Ile)
n.4904A>T (p.Lys1635Ile)
12g.51806391A>CCA384880482SCN8Ac.4782A>C (p.Lys1594Asn)
c.4905A>C (p.Lys1635Asn)
n.4782A>C (p.Lys1594Asn)
n.4938A>C (p.Lys1646Asn)
n.4905A>C (p.Lys1635Asn)
12g.51806391A>GCA479788127SCN8Ac.4782A>G (p.Lys1594=)
c.4905A>G (p.Lys1635=)
n.4782A>G (p.Lys1594=)
n.4938A>G (p.Lys1646=)
n.4905A>G (p.Lys1635=)

Number of alleles fetched