Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26480206T>ACA346131638OTOFc.1909A>T (p.Ile637Leu)
c.1954A>T (p.Ile652Leu)
2g.26480206T>CCA346131640OTOFc.1909A>G (p.Ile637Val)
c.1954A>G (p.Ile652Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480206T>GCA346131643OTOFc.1909A>C (p.Ile637Leu)
c.1954A>C (p.Ile652Leu)
2g.26480206T=CA1239827148OTOFc.1909A= (p.Ile637=)
c.1954A= (p.Ile652=)
2g.26480207G>ACA425205469OTOFc.1908C>T (p.Thr636=)
c.1953C>T (p.Thr651=)
2g.26480207G>CCA425205470OTOFc.1908C>G (p.Thr636=)
c.1953C>G (p.Thr651=)
2g.26480207G>TCA425205471OTOFc.1908C>A (p.Thr636=)
c.1953C>A (p.Thr651=)
2g.26480208G>ACA346131649OTOFc.1907C>T (p.Thr636Ile)
c.1952C>T (p.Thr651Ile)
2g.26480208G>CCA346131650OTOFc.1907C>G (p.Thr636Ser)
c.1952C>G (p.Thr651Ser)
2g.26480208G>TCA346131648OTOFc.1907C>A (p.Thr636Asn)
c.1952C>A (p.Thr651Asn)
 gnomAD v4
2g.26480209T>ACA346131656OTOFc.1906A>T (p.Thr636Ser)
c.1951A>T (p.Thr651Ser)
2g.26480209T>CCA346131654OTOFc.1906A>G (p.Thr636Ala)
c.1951A>G (p.Thr651Ala)
2g.26480209T>GCA346131659OTOFc.1906A>C (p.Thr636Pro)
c.1951A>C (p.Thr651Pro)
2g.26480210G>ACA425205482OTOFc.1905C>T (p.Val635=)
c.1950C>T (p.Val650=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480210G>CCA425205476OTOFc.1905C>G (p.Val635=)
c.1950C>G (p.Val650=)
2g.26480210G=CA1239827150OTOFc.1905C= (p.Val635=)
c.1950C= (p.Val650=)
2g.26480210G>TCA425205478OTOFc.1905C>A (p.Val635=)
c.1950C>A (p.Val650=)
 gnomAD v4
2g.26480211A=CA1239827154OTOFc.1904T= (p.Val635=)
c.1949T= (p.Val650=)
2g.26480211A>CCA346131662OTOFc.1904T>G (p.Val635Gly)
c.1949T>G (p.Val650Gly)
2g.26480211A>GCA346131664OTOFc.1904T>C (p.Val635Ala)
c.1949T>C (p.Val650Ala)
2g.26480211A>TCA346131667OTOFc.1904T>A (p.Val635Asp)
c.1949T>A (p.Val650Asp)
 ClinVar dbSNP
2g.26480212C>ACA346131669OTOFc.1903G>T (p.Val635Phe)
c.1948G>T (p.Val650Phe)
 dbSNP gnomAD v2
2g.26480212C=CA1239827155OTOFc.1903G= (p.Val635=)
c.1948G= (p.Val650=)
2g.26480212C>GCA346131671OTOFc.1903G>C (p.Val635Leu)
c.1948G>C (p.Val650Leu)
2g.26480212C>TCA346131674OTOFc.1903G>A (p.Val635Ile)
c.1948G>A (p.Val650Ile)
2g.26480213C>ACA346131678OTOFc.1902G>T (p.Glu634Asp)
c.1947G>T (p.Glu649Asp)
2g.26480213C>GCA346131680OTOFc.1902G>C (p.Glu634Asp)
c.1947G>C (p.Glu649Asp)
2g.26480213C>TCA425205492OTOFc.1902G>A (p.Glu634=)
c.1947G>A (p.Glu649=)
2g.26480214T>ACA346131684OTOFc.1901A>T (p.Glu634Val)
c.1946A>T (p.Glu649Val)
2g.26480214T>CCA346131685OTOFc.1901A>G (p.Glu634Gly)
c.1946A>G (p.Glu649Gly)
2g.26480214T>GCA346131686OTOFc.1901A>C (p.Glu634Ala)
c.1946A>C (p.Glu649Ala)
2g.26480215C>ACA346131689OTOFc.1900G>T (p.Glu634Ter)
c.1945G>T (p.Glu649Ter)
2g.26480215C>GCA346131691OTOFc.1900G>C (p.Glu634Gln)
c.1945G>C (p.Glu649Gln)
2g.26480215C>TCA346131693OTOFc.1900G>A (p.Glu634Lys)
c.1945G>A (p.Glu649Lys)
2g.26480216A>CCA346131696OTOFc.1899T>G (p.Phe633Leu)
c.1944T>G (p.Phe648Leu)
2g.26480216A>GCA425205498OTOFc.1899T>C (p.Phe633=)
c.1944T>C (p.Phe648=)
 gnomAD v4
2g.26480216A>TCA346131699OTOFc.1899T>A (p.Phe633Leu)
c.1944T>A (p.Phe648Leu)
2g.26480217A>CCA346131703OTOFc.1898T>G (p.Phe633Cys)
c.1943T>G (p.Phe648Cys)
 gnomAD v4
2g.26480217A>GCA346131706OTOFc.1898T>C (p.Phe633Ser)
c.1943T>C (p.Phe648Ser)
2g.26480217A>TCA346131709OTOFc.1898T>A (p.Phe633Tyr)
c.1943T>A (p.Phe648Tyr)
2g.26480218A>CCA346131713OTOFc.1897T>G (p.Phe633Val)
c.1942T>G (p.Phe648Val)
2g.26480218A>GCA346131720OTOFc.1897T>C (p.Phe633Leu)
c.1942T>C (p.Phe648Leu)
2g.26480218A>TCA346131722OTOFc.1897T>A (p.Phe633Ile)
c.1942T>A (p.Phe648Ile)
2g.26480219G>ACA425205506OTOFc.1896C>T (p.Thr632=)
c.1941C>T (p.Thr647=)
 gnomAD v4
2g.26480219G>CCA44400792OTOFc.1896C>G (p.Thr632=)
c.1941C>G (p.Thr647=)
 dbSNP gnomAD v3 gnomAD v4
2g.26480219G=CA1239827157OTOFc.1896C= (p.Thr632=)
c.1941C= (p.Thr647=)
2g.26480219G>TCA425205507OTOFc.1896C>A (p.Thr632=)
c.1941C>A (p.Thr647=)
 dbSNP
2g.26480220G>ACA346131725OTOFc.1895C>T (p.Thr632Ile)
c.1940C>T (p.Thr647Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.26480220G>CCA346131727OTOFc.1895C>G (p.Thr632Ser)
c.1940C>G (p.Thr647Ser)
2g.26480220G=CA1239827159OTOFc.1895C= (p.Thr632=)
c.1940C= (p.Thr647=)

Number of alleles fetched