Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806941C>ACA384886333SCN8Ac.5455C>A (p.Leu1819Ile)
c.3519C>A
c.5332C>A (p.Leu1778Ile)
c.5488C>A (p.Leu1830Ile)
12g.51806941C>GCA384886343SCN8Ac.5455C>G (p.Leu1819Val)
c.3519C>G
c.5332C>G (p.Leu1778Val)
c.5488C>G (p.Leu1830Val)
12g.51806941C>TCA384886347SCN8Ac.5455C>T (p.Leu1819Phe)
c.3519C>T
c.5332C>T (p.Leu1778Phe)
c.5488C>T (p.Leu1830Phe)
12g.51806942T>ACA384886364SCN8Ac.5456T>A (p.Leu1819His)
c.3520T>A
c.5333T>A (p.Leu1778His)
c.5489T>A (p.Leu1830His)
12g.51806942T>CCA384886362SCN8Ac.5456T>C (p.Leu1819Pro)
c.3520T>C
c.5333T>C (p.Leu1778Pro)
c.5489T>C (p.Leu1830Pro)
12g.51806942T>GCA384886358SCN8Ac.5456T>G (p.Leu1819Arg)
c.3520T>G
c.5333T>G (p.Leu1778Arg)
c.5489T>G (p.Leu1830Arg)
12g.51806943C>ACA480062390SCN8Ac.5457C>A (p.Leu1819=)
c.3521C>A
c.5334C>A (p.Leu1778=)
c.5490C>A (p.Leu1830=)
 dbSNP gnomAD v2 gnomAD v4
12g.51806943C=CA2036194052SCN8Ac.5457C= (p.Leu1819=)
c.3521C=
c.5334C= (p.Leu1778=)
c.5490C= (p.Leu1830=)
12g.51806943C>GCA480062392SCN8Ac.5457C>G (p.Leu1819=)
c.3521C>G
c.5334C>G (p.Leu1778=)
c.5490C>G (p.Leu1830=)
12g.51806943C>TCA480062395SCN8Ac.5457C>T (p.Leu1819=)
c.3521C>T
c.5334C>T (p.Leu1778=)
c.5490C>T (p.Leu1830=)
 gnomAD v4 COSMIC COSMIC
12g.51806944C>ACA6571916SCN8Ac.5458C>A (p.Arg1820=)
c.3522C>A
c.5335C>A (p.Arg1779=)
c.5491C>A (p.Arg1831=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806944C=CA2036194058SCN8Ac.5458C= (p.Arg1820=)
c.3522C=
c.5335C= (p.Arg1779=)
c.5491C= (p.Arg1831=)
12g.51806944C>GCA384886366SCN8Ac.5458C>G (p.Arg1820Gly)
c.3522C>G
c.5335C>G (p.Arg1779Gly)
c.5491C>G (p.Arg1831Gly)
12g.51806944C>TCA384886370SCN8Ac.5458C>T (p.Arg1820Ter)
c.3522C>T
c.5335C>T (p.Arg1779Ter)
c.5491C>T (p.Arg1831Ter)
 ClinVar dbSNP gnomAD v4
12g.51806945G>ACA236327645SCN8Ac.5459G>A (p.Arg1820Gln)
c.3523G>A
c.5336G>A (p.Arg1779Gln)
c.5492G>A (p.Arg1831Gln)
 ClinVar dbSNP gnomAD v4
12g.51806945G>CCA384886381SCN8Ac.5459G>C (p.Arg1820Pro)
c.3523G>C
c.5336G>C (p.Arg1779Pro)
c.5492G>C (p.Arg1831Pro)
12g.51806945G=CA2036194074SCN8Ac.5459G= (p.Arg1820=)
c.3523G=
c.5336G= (p.Arg1779=)
c.5492G= (p.Arg1831=)
12g.51806945G>TCA384886387SCN8Ac.5459G>T (p.Arg1820Leu)
c.3523G>T
c.5336G>T (p.Arg1779Leu)
c.5492G>T (p.Arg1831Leu)
 COSMIC COSMIC
12g.51806946A>CCA480062398SCN8Ac.5460A>C (p.Arg1820=)
c.3524A>C
c.5337A>C (p.Arg1779=)
c.5493A>C (p.Arg1831=)
12g.51806946A>GCA480062400SCN8Ac.5460A>G (p.Arg1820=)
c.3524A>G
c.5337A>G (p.Arg1779=)
c.5493A>G (p.Arg1831=)
12g.51806946A>TCA480062401SCN8Ac.5460A>T (p.Arg1820=)
c.3524A>T
c.5337A>T (p.Arg1779=)
c.5493A>T (p.Arg1831=)
 gnomAD v4
12g.51806947G>ACA384886397SCN8Ac.5461G>A (p.Val1821Met)
c.3525G>A
c.5338G>A (p.Val1780Met)
c.5494G>A (p.Val1832Met)
12g.51806947G>CCA384886401SCN8Ac.5461G>C (p.Val1821Leu)
c.3525G>C
c.5338G>C (p.Val1780Leu)
c.5494G>C (p.Val1832Leu)
12g.51806947G>TCA384886398SCN8Ac.5461G>T (p.Val1821Leu)
c.3525G>T
c.5338G>T (p.Val1780Leu)
c.5494G>T (p.Val1832Leu)
12g.51806948T>ACA384886406SCN8Ac.5462T>A (p.Val1821Glu)
c.3526T>A
c.5339T>A (p.Val1780Glu)
c.5495T>A (p.Val1832Glu)
12g.51806948T>CCA384886411SCN8Ac.5462T>C (p.Val1821Ala)
c.3526T>C
c.5339T>C (p.Val1780Ala)
c.5495T>C (p.Val1832Ala)
12g.51806948T>GCA384886414SCN8Ac.5462T>G (p.Val1821Gly)
c.3526T>G
c.5339T>G (p.Val1780Gly)
c.5495T>G (p.Val1832Gly)
12g.51806949G>ACA480062407SCN8Ac.5463G>A (p.Val1821=)
c.3527G>A
c.5340G>A (p.Val1780=)
c.5496G>A (p.Val1832=)
12g.51806949G>CCA480062408SCN8Ac.5463G>C (p.Val1821=)
c.3527G>C
c.5340G>C (p.Val1780=)
c.5496G>C (p.Val1832=)
12g.51806949G=CA2036194088SCN8Ac.5463G= (p.Val1821=)
c.3527G=
c.5340G= (p.Val1780=)
c.5496G= (p.Val1832=)
12g.51806949G>TCA480062409SCN8Ac.5463G>T (p.Val1821=)
c.3527G>T
c.5340G>T (p.Val1780=)
c.5496G>T (p.Val1832=)
 dbSNP gnomAD v3 gnomAD v4
12g.51806950C>ACA384886441SCN8Ac.5464C>A (p.Pro1822Thr)
c.3528C>A
c.5341C>A (p.Pro1781Thr)
c.5497C>A (p.Pro1833Thr)
12g.51806950C>GCA384886462SCN8Ac.5464C>G (p.Pro1822Ala)
c.3528C>G
c.5341C>G (p.Pro1781Ala)
c.5497C>G (p.Pro1833Ala)
12g.51806950C>TCA384886476SCN8Ac.5464C>T (p.Pro1822Ser)
c.3528C>T
c.5341C>T (p.Pro1781Ser)
c.5497C>T (p.Pro1833Ser)
12g.51806951C>ACA384886487SCN8Ac.5465C>A (p.Pro1822His)
c.3529C>A
c.5342C>A (p.Pro1781His)
c.5498C>A (p.Pro1833His)
12g.51806951C>GCA384886491SCN8Ac.5465C>G (p.Pro1822Arg)
c.3529C>G
c.5342C>G (p.Pro1781Arg)
c.5498C>G (p.Pro1833Arg)
12g.51806951C>TCA384886507SCN8Ac.5465C>T (p.Pro1822Leu)
c.3529C>T
c.5342C>T (p.Pro1781Leu)
c.5498C>T (p.Pro1833Leu)
12g.51806952C>ACA480062411SCN8Ac.5466C>A (p.Pro1822=)
c.3530C>A
c.5343C>A (p.Pro1781=)
c.5499C>A (p.Pro1833=)
12g.51806952C=CA2036194095SCN8Ac.5466C= (p.Pro1822=)
c.3530C=
c.5343C= (p.Pro1781=)
c.5499C= (p.Pro1833=)
12g.51806952C>GCA6571917SCN8Ac.5466C>G (p.Pro1822=)
c.3530C>G
c.5343C>G (p.Pro1781=)
c.5499C>G (p.Pro1833=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806952C>TCA6571918SCN8Ac.5466C>T (p.Pro1822=)
c.3530C>T
c.5343C>T (p.Pro1781=)
c.5499C>T (p.Pro1833=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806953A=CA2036194101SCN8Ac.5467A= (p.Lys1823=)
c.3531A=
c.5344A= (p.Lys1782=)
c.5500A= (p.Lys1834=)
12g.51806953A>CCA384886525SCN8Ac.5467A>C (p.Lys1823Gln)
c.3531A>C
c.5344A>C (p.Lys1782Gln)
c.5500A>C (p.Lys1834Gln)
12g.51806953A>GCA6571919SCN8Ac.5467A>G (p.Lys1823Glu)
c.3531A>G
c.5344A>G (p.Lys1782Glu)
c.5500A>G (p.Lys1834Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806953A>TCA384886529SCN8Ac.5467A>T (p.Lys1823Ter)
c.3531A>T
c.5344A>T (p.Lys1782Ter)
c.5500A>T (p.Lys1834Ter)
 dbSNP
12g.51806954A>CCA384886535SCN8Ac.5468A>C (p.Lys1823Thr)
c.3532A>C
c.5345A>C (p.Lys1782Thr)
c.5501A>C (p.Lys1834Thr)
12g.51806954A>GCA384886539SCN8Ac.5468A>G (p.Lys1823Arg)
c.3532A>G
c.5345A>G (p.Lys1782Arg)
c.5501A>G (p.Lys1834Arg)
12g.51806954A>TCA384886540SCN8Ac.5468A>T (p.Lys1823Met)
c.3532A>T
c.5345A>T (p.Lys1782Met)
c.5501A>T (p.Lys1834Met)
12g.51806955G>ACA480062417SCN8Ac.5469G>A (p.Lys1823=)
c.3533G>A
c.5346G>A (p.Lys1782=)
c.5502G>A (p.Lys1834=)
 gnomAD v4
12g.51806955G>CCA384886545SCN8Ac.5469G>C (p.Lys1823Asn)
c.3533G>C
c.5346G>C (p.Lys1782Asn)
c.5502G>C (p.Lys1834Asn)

Number of alleles fetched