Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806375T>ACA384880447SCN8Ac.4889T>A (p.Leu1630Gln)
c.2953T>A
c.4766T>A (p.Leu1589Gln)
c.4922T>A (p.Leu1641Gln)
12g.51806375T>CCA318288SCN8Ac.4889T>C (p.Leu1630Pro)
c.2953T>C
c.4766T>C (p.Leu1589Pro)
c.4922T>C (p.Leu1641Pro)
dbSNP
12g.51806375T>GCA384880448SCN8Ac.4889T>G (p.Leu1630Arg)
c.2953T>G
c.4766T>G (p.Leu1589Arg)
c.4922T>G (p.Leu1641Arg)
12g.51806375T=CA2036192935SCN8Ac.4889T= (p.Leu1630=)
c.2953T=
c.4766T= (p.Leu1589=)
c.4922T= (p.Leu1641=)
12g.51806376G>ACA479788105SCN8Ac.4890G>A (p.Leu1630=)
c.2954G>A
c.4767G>A (p.Leu1589=)
c.4923G>A (p.Leu1641=)
dbSNP gnomAD v3 gnomAD v4
12g.51806376G>CCA479788106SCN8Ac.4890G>C (p.Leu1630=)
c.2954G>C
c.4767G>C (p.Leu1589=)
c.4923G>C (p.Leu1641=)
12g.51806376G=CA2036192939SCN8Ac.4890G= (p.Leu1630=)
c.2954G=
c.4767G= (p.Leu1589=)
c.4923G= (p.Leu1641=)
12g.51806376G>TCA479788104SCN8Ac.4890G>T (p.Leu1630=)
c.2954G>T
c.4767G>T (p.Leu1589=)
c.4923G>T (p.Leu1641=)
12g.51806377A>CCA384880449SCN8Ac.4891A>C (p.Ile1631Leu)
c.2955A>C
c.4768A>C (p.Ile1590Leu)
c.4924A>C (p.Ile1642Leu)
12g.51806377A>GCA384880450SCN8Ac.4891A>G (p.Ile1631Val)
c.2955A>G
c.4768A>G (p.Ile1590Val)
c.4924A>G (p.Ile1642Val)
12g.51806377A>TCA384880451SCN8Ac.4891A>T (p.Ile1631Phe)
c.2955A>T
c.4768A>T (p.Ile1590Phe)
c.4924A>T (p.Ile1642Phe)
12g.51806378T>ACA384880452SCN8Ac.4892T>A (p.Ile1631Asn)
c.2956T>A
c.4769T>A (p.Ile1590Asn)
c.4925T>A (p.Ile1642Asn)
ClinVar dbSNP
12g.51806378T>CCA384880453SCN8Ac.4892T>C (p.Ile1631Thr)
c.2956T>C
c.4769T>C (p.Ile1590Thr)
c.4925T>C (p.Ile1642Thr)
ClinVar dbSNP
12g.51806378T>GCA384880454SCN8Ac.4892T>G (p.Ile1631Ser)
c.2956T>G
c.4769T>G (p.Ile1590Ser)
c.4925T>G (p.Ile1642Ser)
12g.51806378T=CA2036192947SCN8Ac.4892T= (p.Ile1631=)
c.2956T=
c.4769T= (p.Ile1590=)
c.4925T= (p.Ile1642=)
12g.51806379C>ACA479788112SCN8Ac.4893C>A (p.Ile1631=)
c.2957C>A
c.4770C>A (p.Ile1590=)
c.4926C>A (p.Ile1642=)
12g.51806379C>GCA384880455SCN8Ac.4893C>G (p.Ile1631Met)
c.2957C>G
c.4770C>G (p.Ile1590Met)
c.4926C>G (p.Ile1642Met)
COSMIC COSMIC
12g.51806379C>TCA479788111SCN8Ac.4893C>T (p.Ile1631=)
c.2957C>T
c.4770C>T (p.Ile1590=)
c.4926C>T (p.Ile1642=)
gnomAD v4
12g.51806380A=CA2036192963SCN8Ac.4894A= (p.Lys1632=)
c.2958A=
c.4771A= (p.Lys1591=)
c.4927A= (p.Lys1643=)
12g.51806380A>CCA384880456SCN8Ac.4894A>C (p.Lys1632Gln)
c.2958A>C
c.4771A>C (p.Lys1591Gln)
c.4927A>C (p.Lys1643Gln)
12g.51806380A>GCA384880457SCN8Ac.4894A>G (p.Lys1632Glu)
c.2958A>G
c.4771A>G (p.Lys1591Glu)
c.4927A>G (p.Lys1643Glu)
12g.51806380A>TCA384880458SCN8Ac.4894A>T (p.Lys1632Ter)
c.2958A>T
c.4771A>T (p.Lys1591Ter)
c.4927A>T (p.Lys1643Ter)
dbSNP
12g.51806381A>CCA384880460SCN8Ac.4895A>C (p.Lys1632Thr)
c.2959A>C
c.4772A>C (p.Lys1591Thr)
c.4928A>C (p.Lys1643Thr)
12g.51806381A>GCA384880461SCN8Ac.4895A>G (p.Lys1632Arg)
c.2959A>G
c.4772A>G (p.Lys1591Arg)
c.4928A>G (p.Lys1643Arg)
gnomAD v4
12g.51806381A>TCA384880459SCN8Ac.4895A>T (p.Lys1632Ile)
c.2959A>T
c.4772A>T (p.Lys1591Ile)
c.4928A>T (p.Lys1643Ile)
12g.51806382A>CCA384880462SCN8Ac.4896A>C (p.Lys1632Asn)
c.2960A>C
c.4773A>C (p.Lys1591Asn)
c.4929A>C (p.Lys1643Asn)
12g.51806382A>GCA479788114SCN8Ac.4896A>G (p.Lys1632=)
c.2960A>G
c.4773A>G (p.Lys1591=)
c.4929A>G (p.Lys1643=)
12g.51806382A>TCA384880463SCN8Ac.4896A>T (p.Lys1632Asn)
c.2960A>T
c.4773A>T (p.Lys1591Asn)
c.4929A>T (p.Lys1643Asn)
12g.51806383G>ACA384880464SCN8Ac.4897G>A (p.Gly1633Ser)
c.2961G>A
c.4774G>A (p.Gly1592Ser)
c.4930G>A (p.Gly1644Ser)
12g.51806383G>CCA384880465SCN8Ac.4897G>C (p.Gly1633Arg)
c.2961G>C
c.4774G>C (p.Gly1592Arg)
c.4930G>C (p.Gly1644Arg)
12g.51806383G>TCA384880466SCN8Ac.4897G>T (p.Gly1633Cys)
c.2961G>T
c.4774G>T (p.Gly1592Cys)
c.4930G>T (p.Gly1644Cys)
12g.51806384G>ACA384880467SCN8Ac.4898G>A (p.Gly1633Asp)
c.2962G>A
c.4775G>A (p.Gly1592Asp)
c.4931G>A (p.Gly1644Asp)
12g.51806384G>CCA384880468SCN8Ac.4898G>C (p.Gly1633Ala)
c.2962G>C
c.4775G>C (p.Gly1592Ala)
c.4931G>C (p.Gly1644Ala)
12g.51806384G>TCA384880469SCN8Ac.4898G>T (p.Gly1633Val)
c.2962G>T
c.4775G>T (p.Gly1592Val)
c.4931G>T (p.Gly1644Val)
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=)

Number of alleles fetched