Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26480205_26480206insGGCCCGAAGCCCCCGTGGGCCCAGCACTCACCTAGGCCCGAAGCCCCCGTGGGCCCAGCACTCACCTACA2658237845OTOFc.1912+60_1912+61insGGGCCTAGGTGAGTGCTGGGCCCACGGGGGCTTCGGGCCTAGGTGAGTGCTGGGCCCACGGGGGCTTC
c.1957+60_1957+61insGGGCCTAGGTGAGTGCTGGGCCCACGGGGGCTTCGGGCCTAGGTGAGTGCTGGGCCCACGGGGGCTTC
 gnomAD v4
2g.26480172_26480205dupCA2658237844OTOFc.1912+27_1912+60dup
c.1957+27_1957+60dup
 gnomAD v4
2g.26480172_26480205delCA44400771OTOFc.1912+27_1912+60del
c.1957+27_1957+60del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480199T>GCA2576699622OTOFc.1912+4A>C (n.1912+4A>C)
c.1957+4A>C (n.1957+4A>C)
2g.26480200C>TCA2658237873OTOFc.1912+3G>A (n.1912+3G>A)
c.1957+3G>A (n.1957+3G>A)
 gnomAD v4
2g.26480201A>CCA346131608OTOFc.1912+2T>G (n.1912+2T>G)
c.1957+2T>G (n.1957+2T>G)
2g.26480201A>GCA346131605OTOFc.1912+2T>C (n.1912+2T>C)
c.1957+2T>C (n.1957+2T>C)
2g.26480201A>TCA346131604OTOFc.1912+2T>A (n.1912+2T>A)
c.1957+2T>A (n.1957+2T>A)
2g.26480202C>ACA346131611OTOFc.1912+1G>T (n.1912+1G>T)
c.1957+1G>T (n.1957+1G>T)
2g.26480202C=CA1239827141OTOFc.1912+1G= (n.1912+1G=)
c.1957+1G= (n.1957+1G=)
2g.26480202C>GCA346131614OTOFc.1912+1G>C (n.1912+1G>C)
c.1957+1G>C (n.1957+1G>C)
 ClinVar dbSNP gnomAD v4
2g.26480202C>TCA346131617OTOFc.1912+1G>A (n.1912+1G>A)
c.1957+1G>A (n.1957+1G>A)
 gnomAD v4
2g.26480203C>ACA346131620OTOFc.1912G>T (p.Gly638Cys)
c.1957G>T (p.Gly653Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26480203C=CA1239827143OTOFc.1912G= (p.Gly638=)
c.1957G= (p.Gly653=)
2g.26480203C>GCA346131622OTOFc.1912G>C (p.Gly638Arg)
c.1957G>C (p.Gly653Arg)
2g.26480203C>TCA346131624OTOFc.1912G>A (p.Gly638Ser)
c.1957G>A (p.Gly653Ser)
2g.26480204T>ACA425205462OTOFc.1911A>T (p.Ile637=)
c.1956A>T (p.Ile652=)
2g.26480204T>CCA346131627OTOFc.1911A>G (p.Ile637Met)
c.1956A>G (p.Ile652Met)
2g.26480204T>GCA425205461OTOFc.1911A>C (p.Ile637=)
c.1956A>C (p.Ile652=)
2g.26480205A=CA1239827146OTOFc.1910T= (p.Ile637=)
c.1955T= (p.Ile652=)
2g.26480205A>CCA346131631OTOFc.1910T>G (p.Ile637Arg)
c.1955T>G (p.Ile652Arg)
2g.26480205A>GCA142766OTOFc.1910T>C (p.Ile637Thr)
c.1955T>C (p.Ile652Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480205A>TCA346131634OTOFc.1910T>A (p.Ile637Lys)
c.1955T>A (p.Ile652Lys)
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=)
2g.26480220G>TCA346131729OTOFc.1895C>A (p.Thr632Asn)
c.1940C>A (p.Thr647Asn)
 dbSNP gnomAD v2
2g.26480221T>ACA346131730OTOFc.1894A>T (p.Thr632Ser)
c.1939A>T (p.Thr647Ser)
2g.26480221T>CCA346131731OTOFc.1894A>G (p.Thr632Ala)
c.1939A>G (p.Thr647Ala)
2g.26480221T>GCA346131734OTOFc.1894A>C (p.Thr632Pro)
c.1939A>C (p.Thr647Pro)
2g.26480222G>ACA425205508OTOFc.1893C>T (p.Ile631=)
c.1938C>T (p.Ile646=)
2g.26480222G>CCA346131739OTOFc.1893C>G (p.Ile631Met)
c.1938C>G (p.Ile646Met)
2g.26480222G=CA1239827161OTOFc.1893C= (p.Ile631=)
c.1938C= (p.Ile646=)
2g.26480222G>TCA1564149OTOFc.1893C>A (p.Ile631=)
c.1938C>A (p.Ile646=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480223A>CCA346131743OTOFc.1892T>G (p.Ile631Ser)
c.1937T>G (p.Ile646Ser)
2g.26480223A>GCA346131746OTOFc.1892T>C (p.Ile631Thr)
c.1937T>C (p.Ile646Thr)
2g.26480223A>TCA346131748OTOFc.1892T>A (p.Ile631Asn)
c.1937T>A (p.Ile646Asn)
2g.26480224T>ACA1564150OTOFc.1891A>T (p.Ile631Phe)
c.1936A>T (p.Ile646Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480224T>CCA346131753OTOFc.1891A>G (p.Ile631Val)
c.1936A>G (p.Ile646Val)
 gnomAD v4
2g.26480224T>GCA346131754OTOFc.1891A>C (p.Ile631Leu)
c.1936A>C (p.Ile646Leu)
2g.26480224T=CA1239827163OTOFc.1891A= (p.Ile631=)
c.1936A= (p.Ile646=)
2g.26480225G>ACA425205511OTOFc.1890C>T (p.Pro630=)
c.1935C>T (p.Pro645=)
2g.26480225G>CCA425205513OTOFc.1890C>G (p.Pro630=)
c.1935C>G (p.Pro645=)
2g.26480225G>TCA425205514OTOFc.1890C>A (p.Pro630=)
c.1935C>A (p.Pro645=)
2g.26480226G>ACA346131761OTOFc.1889C>T (p.Pro630Leu)
c.1934C>T (p.Pro645Leu)
2g.26480226G>CCA346131757OTOFc.1889C>G (p.Pro630Arg)
c.1934C>G (p.Pro645Arg)
2g.26480226G>TCA346131759OTOFc.1889C>A (p.Pro630His)
c.1934C>A (p.Pro645His)
 gnomAD v4
2g.26480227G>ACA346131764OTOFc.1888C>T (p.Pro630Ser)
c.1933C>T (p.Pro645Ser)
2g.26480227G>CCA346131766OTOFc.1888C>G (p.Pro630Ala)
c.1933C>G (p.Pro645Ala)
2g.26480227G>TCA346131769OTOFc.1888C>A (p.Pro630Thr)
c.1933C>A (p.Pro645Thr)
2g.26480228C>ACA346131773OTOFc.1887G>T (p.Lys629Asn)
c.1932G>T (p.Lys644Asn)
2g.26480228C=CA1239827165OTOFc.1887G= (p.Lys629=)
c.1932G= (p.Lys644=)
2g.26480228C>GCA346131776OTOFc.1887G>C (p.Lys629Asn)
c.1932G>C (p.Lys644Asn)
2g.26480228C>TCA425205518OTOFc.1887G>A (p.Lys629=)
c.1932G>A (p.Lys644=)
 gnomAD v4
2g.26480229T>ACA346131780OTOFc.1886A>T (p.Lys629Met)
c.1931A>T (p.Lys644Met)
2g.26480229T>CCA346131786OTOFc.1886A>G (p.Lys629Arg)
c.1931A>G (p.Lys644Arg)
2g.26480229T>GCA346131784OTOFc.1886A>C (p.Lys629Thr)
c.1931A>C (p.Lys644Thr)
2g.26480230dupCA342561OTOFc.1886dup (p.Pro630AlafsTer5)
c.1931dup (p.Pro645AlafsTer5)
 ClinVar dbSNP
2g.26480230T>ACA346131789OTOFc.1885A>T (p.Lys629Ter)
c.1930A>T (p.Lys644Ter)
2g.26480230T>CCA346131792OTOFc.1885A>G (p.Lys629Glu)
c.1930A>G (p.Lys644Glu)
2g.26480230T>GCA346131794OTOFc.1885A>C (p.Lys629Gln)
c.1930A>C (p.Lys644Gln)
2g.26480231G>ACA425205521OTOFc.1884C>T (p.Asp628=)
c.1929C>T (p.Asp643=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480231G>CCA346131796OTOFc.1884C>G (p.Asp628Glu)
c.1929C>G (p.Asp643Glu)
2g.26480231G=CA1239827167OTOFc.1884C= (p.Asp628=)
c.1929C= (p.Asp643=)
2g.26480231G>TCA346131798OTOFc.1884C>A (p.Asp628Glu)
c.1929C>A (p.Asp643Glu)
 gnomAD v4
2g.26480232T>ACA346131802OTOFc.1883A>T (p.Asp628Val)
c.1928A>T (p.Asp643Val)
2g.26480232T>CCA1564151OTOFc.1883A>G (p.Asp628Gly)
c.1928A>G (p.Asp643Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480232T>GCA346131805OTOFc.1883A>C (p.Asp628Ala)
c.1928A>C (p.Asp643Ala)
2g.26480232T=CA1239827169OTOFc.1883A= (p.Asp628=)
c.1928A= (p.Asp643=)
2g.26480233C>ACA346131808OTOFc.1882G>T (p.Asp628Tyr)
c.1927G>T (p.Asp643Tyr)
2g.26480233C=CA1239827172OTOFc.1882G= (p.Asp628=)
c.1927G= (p.Asp643=)
2g.26480233C>GCA346131811OTOFc.1882G>C (p.Asp628His)
c.1927G>C (p.Asp643His)
 gnomAD v4
2g.26480233C>TCA44400797OTOFc.1882G>A (p.Asp628Asn)
c.1927G>A (p.Asp643Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480234T>ACA425205525OTOFc.1881A>T (p.Gly627=)
c.1926A>T (p.Gly642=)
2g.26480234T>CCA425205527OTOFc.1881A>G (p.Gly627=)
c.1926A>G (p.Gly642=)
2g.26480234T>GCA425205528OTOFc.1881A>C (p.Gly627=)
c.1926A>C (p.Gly642=)
2g.26480235C>ACA346131816OTOFc.1880G>T (p.Gly627Val)
c.1925G>T (p.Gly642Val)
 COSMIC
2g.26480235C>GCA346131821OTOFc.1880G>C (p.Gly627Ala)
c.1925G>C (p.Gly642Ala)
2g.26480235C>TCA346131819OTOFc.1880G>A (p.Gly627Glu)
c.1925G>A (p.Gly642Glu)
2g.26480236C>ACA346131824OTOFc.1879G>T (p.Gly627Ter)
c.1924G>T (p.Gly642Ter)
2g.26480236C=CA1239827173OTOFc.1879G= (p.Gly627=)
c.1924G= (p.Gly642=)
2g.26480236C>GCA346131829OTOFc.1879G>C (p.Gly627Arg)
c.1924G>C (p.Gly642Arg)
2g.26480236C>TCA1564152OTOFc.1879G>A (p.Gly627Arg)
c.1924G>A (p.Gly642Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480237G>ACA1564153OTOFc.1878C>T (p.Asn626=)
c.1923C>T (p.Asn641=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480237G>CCA346131834OTOFc.1878C>G (p.Asn626Lys)
c.1923C>G (p.Asn641Lys)
 gnomAD v4
2g.26480237G=CA1239827175OTOFc.1878C= (p.Asn626=)
c.1923C= (p.Asn641=)
2g.26480237G>TCA346131836OTOFc.1878C>A (p.Asn626Lys)
c.1923C>A (p.Asn641Lys)
 dbSNP
2g.26480238T>ACA346131840OTOFc.1877A>T (p.Asn626Ile)
c.1922A>T (p.Asn641Ile)
2g.26480238T>CCA346131843OTOFc.1877A>G (p.Asn626Ser)
c.1922A>G (p.Asn641Ser)
2g.26480238T>GCA346131845OTOFc.1877A>C (p.Asn626Thr)
c.1922A>C (p.Asn641Thr)
2g.26480239T>ACA346131848OTOFc.1876A>T (p.Asn626Tyr)
c.1921A>T (p.Asn641Tyr)
2g.26480239T>CCA346131850OTOFc.1876A>G (p.Asn626Asp)
c.1921A>G (p.Asn641Asp)
2g.26480239T>GCA346131853OTOFc.1876A>C (p.Asn626His)
c.1921A>C (p.Asn641His)
2g.26480240T>ACA346131857OTOFc.1875A>T (p.Arg625Ser)
c.1920A>T (p.Arg640Ser)
2g.26480240T>CCA425205533OTOFc.1875A>G (p.Arg625=)
c.1920A>G (p.Arg640=)
2g.26480240T>GCA346131859OTOFc.1875A>C (p.Arg625Ser)
c.1920A>C (p.Arg640Ser)
2g.26480241C>ACA346131868OTOFc.1874G>T (p.Arg625Ile)
c.1919G>T (p.Arg640Ile)
2g.26480241C=CA1239827177OTOFc.1874G= (p.Arg625=)
c.1919G= (p.Arg640=)
2g.26480241C>GCA346131863OTOFc.1874G>C (p.Arg625Thr)
c.1919G>C (p.Arg640Thr)
2g.26480241C>TCA346131866OTOFc.1874G>A (p.Arg625Lys)
c.1919G>A (p.Arg640Lys)
 dbSNP
2g.26480242T>ACA346131872OTOFc.1873A>T (p.Arg625Ter)
c.1918A>T (p.Arg640Ter)
2g.26480242T>CCA346131874OTOFc.1873A>G (p.Arg625Gly)
c.1918A>G (p.Arg640Gly)
 gnomAD v4
2g.26480242T>GCA425205534OTOFc.1873A>C (p.Arg625=)
c.1918A>C (p.Arg640=)
 dbSNP
2g.26480242T=CA1239827178OTOFc.1873A= (p.Arg625=)
c.1918A= (p.Arg640=)
2g.26480243C>ACA425205535OTOFc.1872G>T (p.Arg624=)
c.1917G>T (p.Arg639=)
2g.26480243C>GCA425205537OTOFc.1872G>C (p.Arg624=)
c.1917G>C (p.Arg639=)
2g.26480243C>TCA425205536OTOFc.1872G>A (p.Arg624=)
c.1917G>A (p.Arg639=)
 COSMIC
2g.26480244C>ACA346131875OTOFc.1871G>T (p.Arg624Leu)
c.1916G>T (p.Arg639Leu)
 COSMIC
2g.26480244C=CA1239827180OTOFc.1871G= (p.Arg624=)
c.1916G= (p.Arg639=)
2g.26480244C>GCA346131876OTOFc.1871G>C (p.Arg624Pro)
c.1916G>C (p.Arg639Pro)
2g.26480244C>TCA1564154OTOFc.1871G>A (p.Arg624Gln)
c.1916G>A (p.Arg639Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480245G>ACA1564155OTOFc.1870C>T (p.Arg624Trp)
c.1915C>T (p.Arg639Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480245G>CCA44400803OTOFc.1870C>G (p.Arg624Gly)
c.1915C>G (p.Arg639Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480245G=CA1239827182OTOFc.1870C= (p.Arg624=)
c.1915C= (p.Arg639=)
2g.26480245G>TCA425205538OTOFc.1870C>A (p.Arg624=)
c.1915C>A (p.Arg639=)
2g.26480246G>ACA1564156OTOFc.1869C>T (p.Asp623=)
c.1914C>T (p.Asp638=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480246G>CCA346131877OTOFc.1869C>G (p.Asp623Glu)
c.1914C>G (p.Asp638Glu)
2g.26480246G=CA1239827185OTOFc.1869C= (p.Asp623=)
c.1914C= (p.Asp638=)
2g.26480246G>TCA346131878OTOFc.1869C>A (p.Asp623Glu)
c.1914C>A (p.Asp638Glu)
 gnomAD v4
2g.26480247T>ACA346131880OTOFc.1868A>T (p.Asp623Val)
c.1913A>T (p.Asp638Val)
2g.26480247T>CCA346131881OTOFc.1868A>G (p.Asp623Gly)
c.1913A>G (p.Asp638Gly)
2g.26480247T>GCA346131879OTOFc.1868A>C (p.Asp623Ala)
c.1913A>C (p.Asp638Ala)
2g.26480248C>ACA346131883OTOFc.1867G>T (p.Asp623Tyr)
c.1912G>T (p.Asp638Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480248C=CA1239827187OTOFc.1867G= (p.Asp623=)
c.1912G= (p.Asp638=)
2g.26480248C>GCA346131886OTOFc.1867G>C (p.Asp623His)
c.1912G>C (p.Asp638His)
2g.26480248C>TCA1564157OTOFc.1867G>A (p.Asp623Asn)
c.1912G>A (p.Asp638Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480249G>ACA1564158OTOFc.1866C>T (p.Ile622=)
c.1911C>T (p.Ile637=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480249G>CCA346131890OTOFc.1866C>G (p.Ile622Met)
c.1911C>G (p.Ile637Met)
2g.26480249G=CA1239827189OTOFc.1866C= (p.Ile622=)
c.1911C= (p.Ile637=)
2g.26480249G>TCA425205539OTOFc.1866C>A (p.Ile622=)
c.1911C>A (p.Ile637=)
 dbSNP gnomAD v2 gnomAD v4
2g.26480250A>CCA346131898OTOFc.1865T>G (p.Ile622Ser)
c.1910T>G (p.Ile637Ser)
2g.26480250A>GCA346131896OTOFc.1865T>C (p.Ile622Thr)
c.1910T>C (p.Ile637Thr)
2g.26480250A>TCA346131893OTOFc.1865T>A (p.Ile622Asn)
c.1910T>A (p.Ile637Asn)
 gnomAD v4
2g.26480251T>ACA346131902OTOFc.1864A>T (p.Ile622Phe)
c.1909A>T (p.Ile637Phe)
 dbSNP gnomAD v4
2g.26480251T>CCA346131904OTOFc.1864A>G (p.Ile622Val)
c.1909A>G (p.Ile637Val)
 dbSNP gnomAD v4
2g.26480251T>GCA346131908OTOFc.1864A>C (p.Ile622Leu)
c.1909A>C (p.Ile637Leu)
2g.26480251T=CA1239827191OTOFc.1864A= (p.Ile622=)
c.1909A= (p.Ile637=)
2g.26480252C>ACA346131910OTOFc.1863G>T (p.Met621Ile)
c.1908G>T (p.Met636Ile)
2g.26480252C>GCA346131912OTOFc.1863G>C (p.Met621Ile)
c.1908G>C (p.Met636Ile)
2g.26480252C>TCA346131914OTOFc.1863G>A (p.Met621Ile)
c.1908G>A (p.Met636Ile)
2g.26480253A=CA1239827193OTOFc.1862T= (p.Met621=)
c.1907T= (p.Met636=)
2g.26480253A>CCA346131917OTOFc.1862T>G (p.Met621Arg)
c.1907T>G (p.Met636Arg)
2g.26480253A>GCA346131922OTOFc.1862T>C (p.Met621Thr)
c.1907T>C (p.Met636Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.26480253A>TCA346131921OTOFc.1862T>A (p.Met621Lys)
c.1907T>A (p.Met636Lys)
2g.26480254T>ACA346131923OTOFc.1861A>T (p.Met621Leu)
c.1906A>T (p.Met636Leu)
2g.26480254T>CCA1564159OTOFc.1861A>G (p.Met621Val)
c.1906A>G (p.Met636Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480254T>GCA346131925OTOFc.1861A>C (p.Met621Leu)
c.1906A>C (p.Met636Leu)
2g.26480254T=CA1239827196OTOFc.1861A= (p.Met621=)
c.1906A= (p.Met636=)
2g.26480255T>ACA425205540OTOFc.1860A>T (p.Ser620=)
c.1905A>T (p.Ser635=)
2g.26480255T>CCA425205541OTOFc.1860A>G (p.Ser620=)
c.1905A>G (p.Ser635=)
 dbSNP gnomAD v2 gnomAD v4
2g.26480255T>GCA425205542OTOFc.1860A>C (p.Ser620=)
c.1905A>C (p.Ser635=)
2g.26480255T=CA1239827198OTOFc.1860A= (p.Ser620=)
c.1905A= (p.Ser635=)
2g.26480256G>ACA346131930OTOFc.1859C>T (p.Ser620Leu)
c.1904C>T (p.Ser635Leu)
 gnomAD v4
2g.26480256G>CCA346131934OTOFc.1859C>G (p.Ser620Ter)
c.1904C>G (p.Ser635Ter)
 gnomAD v4
2g.26480256G>TCA346131938OTOFc.1859C>A (p.Ser620Ter)
c.1904C>A (p.Ser635Ter)
2g.26480257A>CCA346131941OTOFc.1858T>G (p.Ser620Ala)
c.1903T>G (p.Ser635Ala)
2g.26480257A>GCA346131945OTOFc.1858T>C (p.Ser620Pro)
c.1903T>C (p.Ser635Pro)
 gnomAD v4
2g.26480257A>TCA346131948OTOFc.1858T>A (p.Ser620Thr)
c.1903T>A (p.Ser635Thr)
2g.26480258G>ACA425205543OTOFc.1857C>T (p.Ala619=)
c.1902C>T (p.Ala634=)
2g.26480258G>CCA425205544OTOFc.1857C>G (p.Ala619=)
c.1902C>G (p.Ala634=)
2g.26480258G>TCA425205545OTOFc.1857C>A (p.Ala619=)
c.1902C>A (p.Ala634=)
2g.26480259G>ACA346131952OTOFc.1856C>T (p.Ala619Val)
c.1901C>T (p.Ala634Val)
 gnomAD v4
2g.26480259G>CCA346131956OTOFc.1856C>G (p.Ala619Gly)
c.1901C>G (p.Ala634Gly)
2g.26480259G>TCA346131960OTOFc.1856C>A (p.Ala619Asp)
c.1901C>A (p.Ala634Asp)
2g.26480260C>ACA346131968OTOFc.1855G>T (p.Ala619Ser)
c.1900G>T (p.Ala634Ser)
2g.26480260C=CA1239827201OTOFc.1855G= (p.Ala619=)
c.1900G= (p.Ala634=)
2g.26480260C>GCA346131972OTOFc.1855G>C (p.Ala619Pro)
c.1900G>C (p.Ala634Pro)
2g.26480260C>TCA1564160OTOFc.1855G>A (p.Ala619Thr)
c.1900G>A (p.Ala634Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480261C>ACA346131978OTOFc.1854G>T (p.Glu618Asp)
c.1899G>T (p.Glu633Asp)
2g.26480261C>GCA346131975OTOFc.1854G>C (p.Glu618Asp)
c.1899G>C (p.Glu633Asp)
2g.26480261C>TCA425205546OTOFc.1854G>A (p.Glu618=)
c.1899G>A (p.Glu633=)
 gnomAD v4
2g.26480262T>ACA346131984OTOFc.1853A>T (p.Glu618Val)
c.1898A>T (p.Glu633Val)
2g.26480262T>CCA346131987OTOFc.1853A>G (p.Glu618Gly)
c.1898A>G (p.Glu633Gly)
2g.26480262T>GCA346131990OTOFc.1853A>C (p.Glu618Ala)
c.1898A>C (p.Glu633Ala)
 gnomAD v4
2g.26480263C>ACA346131996OTOFc.1852G>T (p.Glu618Ter)
c.1897G>T (p.Glu633Ter)
2g.26480263C>GCA346131999OTOFc.1852G>C (p.Glu618Gln)
c.1897G>C (p.Glu633Gln)
2g.26480263C>TCA346132001OTOFc.1852G>A (p.Glu618Lys)
c.1897G>A (p.Glu633Lys)
 gnomAD v4
2g.26480264C>ACA425205547OTOFc.1851G>T (p.Leu617=)
c.1896G>T (p.Leu632=)
2g.26480264C=CA1239827203OTOFc.1851G= (p.Leu617=)
c.1896G= (p.Leu632=)
2g.26480264C>GCA425205548OTOFc.1851G>C (p.Leu617=)
c.1896G>C (p.Leu632=)
2g.26480264C>TCA44400810OTOFc.1851G>A (p.Leu617=)
c.1896G>A (p.Leu632=)
 dbSNP gnomAD v3 gnomAD v4
2g.26480265A>CCA346132005OTOFc.1850T>G (p.Leu617Arg)
c.1895T>G (p.Leu632Arg)
2g.26480265A>GCA346132014OTOFc.1850T>C (p.Leu617Pro)
c.1895T>C (p.Leu632Pro)
2g.26480265A>TCA346132011OTOFc.1850T>A (p.Leu617Gln)
c.1895T>A (p.Leu632Gln)
2g.26480266G>ACA425205549OTOFc.1849C>T (p.Leu617=)
c.1894C>T (p.Leu632=)
2g.26480266G>CCA346132018OTOFc.1849C>G (p.Leu617Val)
c.1894C>G (p.Leu632Val)
2g.26480266G>TCA346132022OTOFc.1849C>A (p.Leu617Met)
c.1894C>A (p.Leu632Met)
2g.26480267G>ACA425205550OTOFc.1848C>T (p.Phe616=)
c.1893C>T (p.Phe631=)
2g.26480267G>CCA346132029OTOFc.1848C>G (p.Phe616Leu)
c.1893C>G (p.Phe631Leu)
2g.26480267G>TCA346132033OTOFc.1848C>A (p.Phe616Leu)
c.1893C>A (p.Phe631Leu)
 gnomAD v4
2g.26480268A>CCA346132038OTOFc.1847T>G (p.Phe616Cys)
c.1892T>G (p.Phe631Cys)
2g.26480268A>GCA346132050OTOFc.1847T>C (p.Phe616Ser)
c.1892T>C (p.Phe631Ser)
2g.26480268A>TCA346132041OTOFc.1847T>A (p.Phe616Tyr)
c.1892T>A (p.Phe631Tyr)
2g.26480269A>CCA346132053OTOFc.1846T>G (p.Phe616Val)
c.1891T>G (p.Phe631Val)
2g.26480269A>GCA346132056OTOFc.1846T>C (p.Phe616Leu)
c.1891T>C (p.Phe631Leu)
2g.26480269A>TCA346132057OTOFc.1846T>A (p.Phe616Ile)
c.1891T>A (p.Phe631Ile)
2g.26480270G>ACA425205551OTOFc.1845C>T (p.Ala615=)
c.1890C>T (p.Ala630=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26480270G>CCA425205552OTOFc.1845C>G (p.Ala615=)
c.1890C>G (p.Ala630=)
2g.26480270G=CA1239827204OTOFc.1845C= (p.Ala615=)
c.1890C= (p.Ala630=)
2g.26480270G>TCA425205553OTOFc.1845C>A (p.Ala615=)
c.1890C>A (p.Ala630=)
 gnomAD v4
2g.26480271G>ACA346132058OTOFc.1844C>T (p.Ala615Val)
c.1889C>T (p.Ala630Val)
2g.26480271G>CCA1564161OTOFc.1844C>G (p.Ala615Gly)
c.1889C>G (p.Ala630Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480271G=CA1239827206OTOFc.1844C= (p.Ala615=)
c.1889C= (p.Ala630=)
2g.26480271G>TCA346132060OTOFc.1844C>A (p.Ala615Asp)
c.1889C>A (p.Ala630Asp)
 gnomAD v4
2g.26480272C>ACA346132070OTOFc.1843G>T (p.Ala615Ser)
c.1888G>T (p.Ala630Ser)
2g.26480272C>GCA346132072OTOFc.1843G>C (p.Ala615Pro)
c.1888G>C (p.Ala630Pro)
2g.26480272C>TCA346132076OTOFc.1843G>A (p.Ala615Thr)
c.1888G>A (p.Ala630Thr)
2g.26480273T>ACA425205554OTOFc.1842A>T (p.Gly614=)
c.1887A>T (p.Gly629=)
2g.26480273T>CCA425205556OTOFc.1842A>G (p.Gly614=)
c.1887A>G (p.Gly629=)
 dbSNP gnomAD v2
2g.26480273T>GCA425205555OTOFc.1842A>C (p.Gly614=)
c.1887A>C (p.Gly629=)
2g.26480273T=CA1239827207OTOFc.1842A= (p.Gly614=)
c.1887A= (p.Gly629=)
2g.26480274C>ACA346132081OTOFc.1841G>T (p.Gly614Val)
c.1886G>T (p.Gly629Val)
2g.26480274C=CA1239827211OTOFc.1841G= (p.Gly614=)
c.1886G= (p.Gly629=)
2g.26480274C>GCA346132083OTOFc.1841G>C (p.Gly614Ala)
c.1886G>C (p.Gly629Ala)
2g.26480274C>TCA345098OTOFc.1841G>A (p.Gly614Glu)
c.1886G>A (p.Gly629Glu)
 ClinVar dbSNP
2g.26480275C>ACA346132090OTOFc.1840G>T (p.Gly614Ter)
c.1885G>T (p.Gly629Ter)
2g.26480275C>GCA346132094OTOFc.1840G>C (p.Gly614Arg)
c.1885G>C (p.Gly629Arg)
2g.26480275C>TCA346132093OTOFc.1840G>A (p.Gly614Arg)
c.1885G>A (p.Gly629Arg)
2g.26480276A>CCA346132100OTOFc.1839T>G (p.Phe613Leu)
c.1884T>G (p.Phe628Leu)
2g.26480276A>GCA425205557OTOFc.1839T>C (p.Phe613=)
c.1884T>C (p.Phe628=)
2g.26480276A>TCA346132105OTOFc.1839T>A (p.Phe613Leu)
c.1884T>A (p.Phe628Leu)
2g.26480277A>CCA346132111OTOFc.1838T>G (p.Phe613Cys)
c.1883T>G (p.Phe628Cys)
 gnomAD v4
2g.26480277A>GCA346132114OTOFc.1838T>C (p.Phe613Ser)
c.1883T>C (p.Phe628Ser)
2g.26480277A>TCA346132125OTOFc.1838T>A (p.Phe613Tyr)
c.1883T>A (p.Phe628Tyr)
2g.26480278A>CCA346132130OTOFc.1837T>G (p.Phe613Val)
c.1882T>G (p.Phe628Val)
2g.26480278A>GCA346132133OTOFc.1837T>C (p.Phe613Leu)
c.1882T>C (p.Phe628Leu)
2g.26480278A>TCA346132137OTOFc.1837T>A (p.Phe613Ile)
c.1882T>A (p.Phe628Ile)
2g.26480279G>ACA425205558OTOFc.1836C>T (p.Leu612=)
c.1881C>T (p.Leu627=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26480279G>CCA425205559OTOFc.1836C>G (p.Leu612=)
c.1881C>G (p.Leu627=)
 dbSNP
2g.26480279G=CA1239827214OTOFc.1836C= (p.Leu612=)
c.1881C= (p.Leu627=)
2g.26480279G>TCA425205560OTOFc.1836C>A (p.Leu612=)
c.1881C>A (p.Leu627=)
2g.26480280A=CA1239827216OTOFc.1835T= (p.Leu612=)
c.1880T= (p.Leu627=)
2g.26480280A>CCA346132140OTOFc.1835T>G (p.Leu612Arg)
c.1880T>G (p.Leu627Arg)
2g.26480280A>GCA346132143OTOFc.1835T>C (p.Leu612Pro)
c.1880T>C (p.Leu627Pro)
 dbSNP gnomAD v2
2g.26480280A>TCA346132146OTOFc.1835T>A (p.Leu612His)
c.1880T>A (p.Leu627His)
2g.26480281G>ACA346132157OTOFc.1834C>T (p.Leu612Phe)
c.1879C>T (p.Leu627Phe)
 COSMIC
2g.26480281G>CCA346132154OTOFc.1834C>G (p.Leu612Val)
c.1879C>G (p.Leu627Val)
 gnomAD v4
2g.26480281G>TCA346132152OTOFc.1834C>A (p.Leu612Ile)
c.1879C>A (p.Leu627Ile)
 gnomAD v4
2g.26480282A>CCA346132162OTOFc.1833T>G (p.Phe611Leu)
c.1878T>G (p.Phe626Leu)
2g.26480282A>GCA425205561OTOFc.1833T>C (p.Phe611=)
c.1878T>C (p.Phe626=)
2g.26480282A>TCA346132164OTOFc.1833T>A (p.Phe611Leu)
c.1878T>A (p.Phe626Leu)
2g.26480283A=CA1239827218OTOFc.1832T= (p.Phe611=)
c.1877T= (p.Phe626=)
2g.26480283A>CCA346132173OTOFc.1832T>G (p.Phe611Cys)
c.1877T>G (p.Phe626Cys)
2g.26480283A>GCA346132176OTOFc.1832T>C (p.Phe611Ser)
c.1877T>C (p.Phe626Ser)
2g.26480283A>TCA1564162OTOFc.1832T>A (p.Phe611Tyr)
c.1877T>A (p.Phe626Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480284A>CCA346132184OTOFc.1831T>G (p.Phe611Val)
c.1876T>G (p.Phe626Val)
2g.26480284A>GCA346132187OTOFc.1831T>C (p.Phe611Leu)
c.1876T>C (p.Phe626Leu)
2g.26480284A>TCA346132192OTOFc.1831T>A (p.Phe611Ile)
c.1876T>A (p.Phe626Ile)
2g.26480285G>ACA425205562OTOFc.1830C>T (p.Phe610=)
c.1875C>T (p.Phe625=)
2g.26480285G>CCA346132195OTOFc.1830C>G (p.Phe610Leu)
c.1875C>G (p.Phe625Leu)
2g.26480285G>TCA346132198OTOFc.1830C>A (p.Phe610Leu)
c.1875C>A (p.Phe625Leu)
 gnomAD v4 COSMIC
2g.26480286A=CA1239827221OTOFc.1829T= (p.Phe610=)
c.1874T= (p.Phe625=)
2g.26480286A>CCA346132203OTOFc.1829T>G (p.Phe610Cys)
c.1874T>G (p.Phe625Cys)
2g.26480286A>GCA346132206OTOFc.1829T>C (p.Phe610Ser)
c.1874T>C (p.Phe625Ser)
2g.26480286A>TCA346132210OTOFc.1829T>A (p.Phe610Tyr)
c.1874T>A (p.Phe625Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480287delCA2586968844OTOFc.1829del (p.Phe610SerfsTer12)
c.1874del (p.Phe625SerfsTer12)
2g.26480287A>CCA346132216OTOFc.1828T>G (p.Phe610Val)
c.1873T>G (p.Phe625Val)
2g.26480287A>GCA346132217OTOFc.1828T>C (p.Phe610Leu)
c.1873T>C (p.Phe625Leu)
 gnomAD v4
2g.26480287A>TCA346132213OTOFc.1828T>A (p.Phe610Ile)
c.1873T>A (p.Phe625Ile)
2g.26480288T>ACA346132223OTOFc.1827A>T (p.Glu609Asp)
c.1872A>T (p.Glu624Asp)
2g.26480288T>CCA425205563OTOFc.1827A>G (p.Glu609=)
c.1872A>G (p.Glu624=)
2g.26480288T>GCA346132219OTOFc.1827A>C (p.Glu609Asp)
c.1872A>C (p.Glu624Asp)
 COSMIC
2g.26480289T>ACA346132227OTOFc.1826A>T (p.Glu609Val)
c.1871A>T (p.Glu624Val)
2g.26480289T>CCA346132228OTOFc.1826A>G (p.Glu609Gly)
c.1871A>G (p.Glu624Gly)
2g.26480289T>GCA346132229OTOFc.1826A>C (p.Glu609Ala)
c.1871A>C (p.Glu624Ala)
 dbSNP gnomAD v4
2g.26480290C>ACA346132231OTOFc.1825G>T (p.Glu609Ter)
c.1870G>T (p.Glu624Ter)
2g.26480290C>GCA346132232OTOFc.1825G>C (p.Glu609Gln)
c.1870G>C (p.Glu624Gln)
2g.26480290C>TCA346132233OTOFc.1825G>A (p.Glu609Lys)
c.1870G>A (p.Glu624Lys)
 gnomAD v4
2g.26480291T>ACA346132240OTOFc.1824A>T (p.Glu608Asp)
c.1869A>T (p.Glu623Asp)
2g.26480291T>CCA425205564OTOFc.1824A>G (p.Glu608=)
c.1869A>G (p.Glu623=)
2g.26480291T>GCA346132239OTOFc.1824A>C (p.Glu608Asp)
c.1869A>C (p.Glu623Asp)
2g.26480292T>ACA346132242OTOFc.1823A>T (p.Glu608Val)
c.1868A>T (p.Glu623Val)
2g.26480292T>CCA346132245OTOFc.1823A>G (p.Glu608Gly)
c.1868A>G (p.Glu623Gly)
 gnomAD v4
2g.26480292T>GCA346132248OTOFc.1823A>C (p.Glu608Ala)
c.1868A>C (p.Glu623Ala)
2g.26480293C>ACA346132253OTOFc.1822G>T (p.Glu608Ter)
c.1867G>T (p.Glu623Ter)
2g.26480293C=CA1239827224OTOFc.1822G= (p.Glu608=)
c.1867G= (p.Glu623=)
2g.26480293C>GCA346132255OTOFc.1822G>C (p.Glu608Gln)
c.1867G>C (p.Glu623Gln)
2g.26480293C>TCA346132260OTOFc.1822G>A (p.Glu608Lys)
c.1867G>A (p.Glu623Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26480294C>ACA346132265OTOFc.1821G>T (p.Met607Ile)
c.1866G>T (p.Met622Ile)
2g.26480294C>GCA346132271OTOFc.1821G>C (p.Met607Ile)
c.1866G>C (p.Met622Ile)
2g.26480294C>TCA346132268OTOFc.1821G>A (p.Met607Ile)
c.1866G>A (p.Met622Ile)
2g.26480295A=CA1239827225OTOFc.1820T= (p.Met607=)
c.1865T= (p.Met622=)
2g.26480295A>CCA346132274OTOFc.1820T>G (p.Met607Arg)
c.1865T>G (p.Met622Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.26480295A>GCA346132275OTOFc.1820T>C (p.Met607Thr)
c.1865T>C (p.Met622Thr)
 COSMIC
2g.26480295A>TCA346132276OTOFc.1820T>A (p.Met607Lys)
c.1865T>A (p.Met622Lys)
2g.26480296T>ACA346132278OTOFc.1819A>T (p.Met607Leu)
c.1864A>T (p.Met622Leu)
2g.26480296T>CCA346132280OTOFc.1819A>G (p.Met607Val)
c.1864A>G (p.Met622Val)
 gnomAD v4
2g.26480296T>GCA346132281OTOFc.1819A>C (p.Met607Leu)
c.1864A>C (p.Met622Leu)
2g.26480297T>ACA346132283OTOFc.1818A>T (p.Lys606Asn)
c.1863A>T (p.Lys621Asn)
2g.26480297T>CCA425205565OTOFc.1818A>G (p.Lys606=)
c.1863A>G (p.Lys621=)
2g.26480297T>GCA346132284OTOFc.1818A>C (p.Lys606Asn)
c.1863A>C (p.Lys621Asn)
2g.26480298T>ACA346132287OTOFc.1817A>T (p.Lys606Ile)
c.1862A>T (p.Lys621Ile)
2g.26480298T>CCA346132289OTOFc.1817A>G (p.Lys606Arg)
c.1862A>G (p.Lys621Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.26480298T>GCA346132290OTOFc.1817A>C (p.Lys606Thr)
c.1862A>C (p.Lys621Thr)
2g.26480298T=CA1239827228OTOFc.1817A= (p.Lys606=)
c.1862A= (p.Lys621=)
2g.26480299T>ACA346132305OTOFc.1816A>T (p.Lys606Ter)
c.1861A>T (p.Lys621Ter)
2g.26480299T>CCA346132300OTOFc.1816A>G (p.Lys606Glu)
c.1861A>G (p.Lys621Glu)
2g.26480299T>GCA346132295OTOFc.1816A>C (p.Lys606Gln)
c.1861A>C (p.Lys621Gln)

Number of alleles fetched