Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806941C>ACA384886333SCN8Ac.5332C>A (p.Leu1778Ile)
c.5455C>A (p.Leu1819Ile)
n.5332C>A (p.Leu1778Ile)
n.5488C>A (p.Leu1830Ile)
n.5455C>A (p.Leu1819Ile)
12g.51806941C>GCA384886343SCN8Ac.5332C>G (p.Leu1778Val)
c.5455C>G (p.Leu1819Val)
n.5332C>G (p.Leu1778Val)
n.5488C>G (p.Leu1830Val)
n.5455C>G (p.Leu1819Val)
12g.51806941C>TCA384886347SCN8Ac.5332C>T (p.Leu1778Phe)
c.5455C>T (p.Leu1819Phe)
n.5332C>T (p.Leu1778Phe)
n.5488C>T (p.Leu1830Phe)
n.5455C>T (p.Leu1819Phe)
12g.51806942T>ACA384886364SCN8Ac.5333T>A (p.Leu1778His)
c.5456T>A (p.Leu1819His)
n.5333T>A (p.Leu1778His)
n.5489T>A (p.Leu1830His)
n.5456T>A (p.Leu1819His)
12g.51806942T>CCA384886362SCN8Ac.5333T>C (p.Leu1778Pro)
c.5456T>C (p.Leu1819Pro)
n.5333T>C (p.Leu1778Pro)
n.5489T>C (p.Leu1830Pro)
n.5456T>C (p.Leu1819Pro)
12g.51806942T>GCA384886358SCN8Ac.5333T>G (p.Leu1778Arg)
c.5456T>G (p.Leu1819Arg)
n.5333T>G (p.Leu1778Arg)
n.5489T>G (p.Leu1830Arg)
n.5456T>G (p.Leu1819Arg)
12g.51806943C>ACA480062390SCN8Ac.5334C>A (p.Leu1778=)
c.5457C>A (p.Leu1819=)
n.5334C>A (p.Leu1778=)
n.5490C>A (p.Leu1830=)
n.5457C>A (p.Leu1819=)
gnomAD
12g.51806943C>GCA480062392SCN8Ac.5334C>G (p.Leu1778=)
c.5457C>G (p.Leu1819=)
n.5334C>G (p.Leu1778=)
n.5490C>G (p.Leu1830=)
n.5457C>G (p.Leu1819=)
12g.51806943C>TCA480062395SCN8Ac.5334C>T (p.Leu1778=)
c.5457C>T (p.Leu1819=)
n.5334C>T (p.Leu1778=)
n.5490C>T (p.Leu1830=)
n.5457C>T (p.Leu1819=)
COSMIC COSMIC
12g.51806944C>ACA6571916SCN8Ac.5335C>A (p.Arg1779=)
c.5458C>A (p.Arg1820=)
n.5335C>A (p.Arg1779=)
n.5491C>A (p.Arg1831=)
n.5458C>A (p.Arg1820=)
dbSNP ExAC gnomAD
12g.51806944C>GCA384886366SCN8Ac.5335C>G (p.Arg1779Gly)
c.5458C>G (p.Arg1820Gly)
n.5335C>G (p.Arg1779Gly)
n.5491C>G (p.Arg1831Gly)
n.5458C>G (p.Arg1820Gly)
12g.51806944C>TCA384886370SCN8Ac.5335C>T (p.Arg1779Ter)
c.5458C>T (p.Arg1820Ter)
n.5335C>T (p.Arg1779Ter)
n.5491C>T (p.Arg1831Ter)
n.5458C>T (p.Arg1820Ter)
ClinVar
12g.51806945G>ACA236327645SCN8Ac.5336G>A (p.Arg1779Gln)
c.5459G>A (p.Arg1820Gln)
n.5336G>A (p.Arg1779Gln)
n.5492G>A (p.Arg1831Gln)
n.5459G>A (p.Arg1820Gln)
ClinVar dbSNP
12g.51806945G>CCA384886381SCN8Ac.5336G>C (p.Arg1779Pro)
c.5459G>C (p.Arg1820Pro)
n.5336G>C (p.Arg1779Pro)
n.5492G>C (p.Arg1831Pro)
n.5459G>C (p.Arg1820Pro)
12g.51806945G>TCA384886387SCN8Ac.5336G>T (p.Arg1779Leu)
c.5459G>T (p.Arg1820Leu)
n.5336G>T (p.Arg1779Leu)
n.5492G>T (p.Arg1831Leu)
n.5459G>T (p.Arg1820Leu)
COSMIC COSMIC
12g.51806946A>CCA480062398SCN8Ac.5337A>C (p.Arg1779=)
c.5460A>C (p.Arg1820=)
n.5337A>C (p.Arg1779=)
n.5493A>C (p.Arg1831=)
n.5460A>C (p.Arg1820=)
12g.51806946A>GCA480062400SCN8Ac.5337A>G (p.Arg1779=)
c.5460A>G (p.Arg1820=)
n.5337A>G (p.Arg1779=)
n.5493A>G (p.Arg1831=)
n.5460A>G (p.Arg1820=)
12g.51806946A>TCA480062401SCN8Ac.5337A>T (p.Arg1779=)
c.5460A>T (p.Arg1820=)
n.5337A>T (p.Arg1779=)
n.5493A>T (p.Arg1831=)
n.5460A>T (p.Arg1820=)
12g.51806947G>ACA384886397SCN8Ac.5338G>A (p.Val1780Met)
c.5461G>A (p.Val1821Met)
n.5338G>A (p.Val1780Met)
n.5494G>A (p.Val1832Met)
n.5461G>A (p.Val1821Met)
12g.51806947G>CCA384886401SCN8Ac.5338G>C (p.Val1780Leu)
c.5461G>C (p.Val1821Leu)
n.5338G>C (p.Val1780Leu)
n.5494G>C (p.Val1832Leu)
n.5461G>C (p.Val1821Leu)
12g.51806947G>TCA384886398SCN8Ac.5338G>T (p.Val1780Leu)
c.5461G>T (p.Val1821Leu)
n.5338G>T (p.Val1780Leu)
n.5494G>T (p.Val1832Leu)
n.5461G>T (p.Val1821Leu)
12g.51806948T>ACA384886406SCN8Ac.5339T>A (p.Val1780Glu)
c.5462T>A (p.Val1821Glu)
n.5339T>A (p.Val1780Glu)
n.5495T>A (p.Val1832Glu)
n.5462T>A (p.Val1821Glu)
12g.51806948T>CCA384886411SCN8Ac.5339T>C (p.Val1780Ala)
c.5462T>C (p.Val1821Ala)
n.5339T>C (p.Val1780Ala)
n.5495T>C (p.Val1832Ala)
n.5462T>C (p.Val1821Ala)
12g.51806948T>GCA384886414SCN8Ac.5339T>G (p.Val1780Gly)
c.5462T>G (p.Val1821Gly)
n.5339T>G (p.Val1780Gly)
n.5495T>G (p.Val1832Gly)
n.5462T>G (p.Val1821Gly)
12g.51806949G>ACA480062407SCN8Ac.5340G>A (p.Val1780=)
c.5463G>A (p.Val1821=)
n.5340G>A (p.Val1780=)
n.5496G>A (p.Val1832=)
n.5463G>A (p.Val1821=)
12g.51806949G>CCA480062408SCN8Ac.5340G>C (p.Val1780=)
c.5463G>C (p.Val1821=)
n.5340G>C (p.Val1780=)
n.5496G>C (p.Val1832=)
n.5463G>C (p.Val1821=)
12g.51806949G>TCA480062409SCN8Ac.5340G>T (p.Val1780=)
c.5463G>T (p.Val1821=)
n.5340G>T (p.Val1780=)
n.5496G>T (p.Val1832=)
n.5463G>T (p.Val1821=)
12g.51806950C>ACA384886441SCN8Ac.5341C>A (p.Pro1781Thr)
c.5464C>A (p.Pro1822Thr)
n.5341C>A (p.Pro1781Thr)
n.5497C>A (p.Pro1833Thr)
n.5464C>A (p.Pro1822Thr)
12g.51806950C>GCA384886462SCN8Ac.5341C>G (p.Pro1781Ala)
c.5464C>G (p.Pro1822Ala)
n.5341C>G (p.Pro1781Ala)
n.5497C>G (p.Pro1833Ala)
n.5464C>G (p.Pro1822Ala)
12g.51806950C>TCA384886476SCN8Ac.5341C>T (p.Pro1781Ser)
c.5464C>T (p.Pro1822Ser)
n.5341C>T (p.Pro1781Ser)
n.5497C>T (p.Pro1833Ser)
n.5464C>T (p.Pro1822Ser)
12g.51806951C>ACA384886487SCN8Ac.5342C>A (p.Pro1781His)
c.5465C>A (p.Pro1822His)
n.5342C>A (p.Pro1781His)
n.5498C>A (p.Pro1833His)
n.5465C>A (p.Pro1822His)
12g.51806951C>GCA384886491SCN8Ac.5342C>G (p.Pro1781Arg)
c.5465C>G (p.Pro1822Arg)
n.5342C>G (p.Pro1781Arg)
n.5498C>G (p.Pro1833Arg)
n.5465C>G (p.Pro1822Arg)
12g.51806951C>TCA384886507SCN8Ac.5342C>T (p.Pro1781Leu)
c.5465C>T (p.Pro1822Leu)
n.5342C>T (p.Pro1781Leu)
n.5498C>T (p.Pro1833Leu)
n.5465C>T (p.Pro1822Leu)
12g.51806952C>ACA480062411SCN8Ac.5343C>A (p.Pro1781=)
c.5466C>A (p.Pro1822=)
n.5343C>A (p.Pro1781=)
n.5499C>A (p.Pro1833=)
n.5466C>A (p.Pro1822=)
12g.51806952C>GCA6571917SCN8Ac.5343C>G (p.Pro1781=)
c.5466C>G (p.Pro1822=)
n.5343C>G (p.Pro1781=)
n.5499C>G (p.Pro1833=)
n.5466C>G (p.Pro1822=)
dbSNP ExAC gnomAD
12g.51806952C>TCA6571918SCN8Ac.5343C>T (p.Pro1781=)
c.5466C>T (p.Pro1822=)
n.5343C>T (p.Pro1781=)
n.5499C>T (p.Pro1833=)
n.5466C>T (p.Pro1822=)
dbSNP ExAC gnomAD
12g.51806953A>CCA384886525SCN8Ac.5344A>C (p.Lys1782Gln)
c.5467A>C (p.Lys1823Gln)
n.5344A>C (p.Lys1782Gln)
n.5500A>C (p.Lys1834Gln)
n.5467A>C (p.Lys1823Gln)
12g.51806953A>GCA6571919SCN8Ac.5344A>G (p.Lys1782Glu)
c.5467A>G (p.Lys1823Glu)
n.5344A>G (p.Lys1782Glu)
n.5500A>G (p.Lys1834Glu)
n.5467A>G (p.Lys1823Glu)
dbSNP ExAC gnomAD
12g.51806953A>TCA384886529SCN8Ac.5344A>T (p.Lys1782Ter)
c.5467A>T (p.Lys1823Ter)
n.5344A>T (p.Lys1782Ter)
n.5500A>T (p.Lys1834Ter)
n.5467A>T (p.Lys1823Ter)
12g.51806954A>CCA384886535SCN8Ac.5345A>C (p.Lys1782Thr)
c.5468A>C (p.Lys1823Thr)
n.5345A>C (p.Lys1782Thr)
n.5501A>C (p.Lys1834Thr)
n.5468A>C (p.Lys1823Thr)
12g.51806954A>GCA384886539SCN8Ac.5345A>G (p.Lys1782Arg)
c.5468A>G (p.Lys1823Arg)
n.5345A>G (p.Lys1782Arg)
n.5501A>G (p.Lys1834Arg)
n.5468A>G (p.Lys1823Arg)
12g.51806954A>TCA384886540SCN8Ac.5345A>T (p.Lys1782Met)
c.5468A>T (p.Lys1823Met)
n.5345A>T (p.Lys1782Met)
n.5501A>T (p.Lys1834Met)
n.5468A>T (p.Lys1823Met)
12g.51806955G>ACA480062417SCN8Ac.5346G>A (p.Lys1782=)
c.5469G>A (p.Lys1823=)
n.5346G>A (p.Lys1782=)
n.5502G>A (p.Lys1834=)
n.5469G>A (p.Lys1823=)
12g.51806955G>CCA384886545SCN8Ac.5346G>C (p.Lys1782Asn)
c.5469G>C (p.Lys1823Asn)
n.5346G>C (p.Lys1782Asn)
n.5502G>C (p.Lys1834Asn)
n.5469G>C (p.Lys1823Asn)
12g.51806955G>TCA384886546SCN8Ac.5346G>T (p.Lys1782Asn)
c.5469G>T (p.Lys1823Asn)
n.5346G>T (p.Lys1782Asn)
n.5502G>T (p.Lys1834Asn)
n.5469G>T (p.Lys1823Asn)
12g.51806956C>ACA384886547SCN8Ac.5347C>A (p.Pro1783Thr)
c.5470C>A (p.Pro1824Thr)
n.5347C>A (p.Pro1783Thr)
n.5503C>A (p.Pro1835Thr)
n.5470C>A (p.Pro1824Thr)
12g.51806956C>GCA384886551SCN8Ac.5347C>G (p.Pro1783Ala)
c.5470C>G (p.Pro1824Ala)
n.5347C>G (p.Pro1783Ala)
n.5503C>G (p.Pro1835Ala)
n.5470C>G (p.Pro1824Ala)
12g.51806956C>TCA384886562SCN8Ac.5347C>T (p.Pro1783Ser)
c.5470C>T (p.Pro1824Ser)
n.5347C>T (p.Pro1783Ser)
n.5503C>T (p.Pro1835Ser)
n.5470C>T (p.Pro1824Ser)
12g.51806957C>ACA384886570SCN8Ac.5348C>A (p.Pro1783His)
c.5471C>A (p.Pro1824His)
n.5348C>A (p.Pro1783His)
n.5504C>A (p.Pro1835His)
n.5471C>A (p.Pro1824His)
12g.51806957C>GCA384886580SCN8Ac.5348C>G (p.Pro1783Arg)
c.5471C>G (p.Pro1824Arg)
n.5348C>G (p.Pro1783Arg)
n.5504C>G (p.Pro1835Arg)
n.5471C>G (p.Pro1824Arg)

Number of alleles fetched