Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.32997225C>ACA432960311GLB1c.1854G>T (p.Val618=)
c.1461G>T (p.Val487=)
c.1764G>T (p.Val588=)
c.1998G>T (p.Val666=)
c.1734+16831G>T (n.1734+16831G>T)
3g.32997225C>GCA432960312GLB1c.1854G>C (p.Val618=)
c.1461G>C (p.Val487=)
c.1764G>C (p.Val588=)
c.1998G>C (p.Val666=)
c.1734+16831G>C (n.1734+16831G>C)
 ClinVar
3g.32997225C>TCA432960314GLB1c.1854G>A (p.Val618=)
c.1461G>A (p.Val487=)
c.1764G>A (p.Val588=)
c.1998G>A (p.Val666=)
c.1734+16831G>A (n.1734+16831G>A)
 ClinVar gnomAD v4
3g.32997226A>CCA352000548GLB1c.1853T>G (p.Val618Gly)
c.1460T>G (p.Val487Gly)
c.1763T>G (p.Val588Gly)
c.1997T>G (p.Val666Gly)
c.1734+16830T>G (n.1734+16830T>G)
3g.32997226A>GCA352000546GLB1c.1853T>C (p.Val618Ala)
c.1460T>C (p.Val487Ala)
c.1763T>C (p.Val588Ala)
c.1997T>C (p.Val666Ala)
c.1734+16830T>C (n.1734+16830T>C)
3g.32997226A>TCA352000544GLB1c.1853T>A (p.Val618Glu)
c.1460T>A (p.Val487Glu)
c.1763T>A (p.Val588Glu)
c.1997T>A (p.Val666Glu)
c.1734+16830T>A (n.1734+16830T>A)
3g.32997227C>ACA352000549GLB1c.1852G>T (p.Val618Leu)
c.1459G>T (p.Val487Leu)
c.1762G>T (p.Val588Leu)
c.1996G>T (p.Val666Leu)
c.1734+16829G>T (n.1734+16829G>T)
3g.32997227C=CA1355976948GLB1c.1852G= (p.Val618=)
c.1459G= (p.Val487=)
c.1762G= (p.Val588=)
c.1996G= (p.Val666=)
c.1734+16829G= (n.1734+16829G=)
3g.32997227C>GCA352000551GLB1c.1852G>C (p.Val618Leu)
c.1459G>C (p.Val487Leu)
c.1762G>C (p.Val588Leu)
c.1996G>C (p.Val666Leu)
c.1734+16829G>C (n.1734+16829G>C)
3g.32997227C>TCA352000553GLB1c.1852G>A (p.Val618Met)
c.1459G>A (p.Val487Met)
c.1762G>A (p.Val588Met)
c.1996G>A (p.Val666Met)
c.1734+16829G>A (n.1734+16829G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.32997228G>ACA432960320GLB1c.1851C>T (p.Thr617=)
c.1458C>T (p.Thr486=)
c.1761C>T (p.Thr587=)
c.1995C>T (p.Thr665=)
c.1734+16828C>T (n.1734+16828C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32997228G>CCA432960323GLB1c.1851C>G (p.Thr617=)
c.1458C>G (p.Thr486=)
c.1761C>G (p.Thr587=)
c.1995C>G (p.Thr665=)
c.1734+16828C>G (n.1734+16828C>G)
 gnomAD v4
3g.32997228G=CA1355976949GLB1c.1851C= (p.Thr617=)
c.1458C= (p.Thr486=)
c.1761C= (p.Thr587=)
c.1995C= (p.Thr665=)
c.1734+16828C= (n.1734+16828C=)
3g.32997228G>TCA432960322GLB1c.1851C>A (p.Thr617=)
c.1458C>A (p.Thr486=)
c.1761C>A (p.Thr587=)
c.1995C>A (p.Thr665=)
c.1734+16828C>A (n.1734+16828C>A)
3g.32997229G>ACA352000555GLB1c.1850C>T (p.Thr617Ile)
c.1457C>T (p.Thr486Ile)
c.1760C>T (p.Thr587Ile)
c.1994C>T (p.Thr665Ile)
c.1734+16827C>T (n.1734+16827C>T)
3g.32997229G>CCA352000557GLB1c.1850C>G (p.Thr617Ser)
c.1457C>G (p.Thr486Ser)
c.1760C>G (p.Thr587Ser)
c.1994C>G (p.Thr665Ser)
c.1734+16827C>G (n.1734+16827C>G)
 dbSNP
3g.32997229G=CA1355976950GLB1c.1850C= (p.Thr617=)
c.1457C= (p.Thr486=)
c.1760C= (p.Thr587=)
c.1994C= (p.Thr665=)
c.1734+16827C= (n.1734+16827C=)
3g.32997229G>TCA352000559GLB1c.1850C>A (p.Thr617Asn)
c.1457C>A (p.Thr486Asn)
c.1760C>A (p.Thr587Asn)
c.1994C>A (p.Thr665Asn)
c.1734+16827C>A (n.1734+16827C>A)
3g.32997230T>ACA352000561GLB1c.1849A>T (p.Thr617Ser)
c.1456A>T (p.Thr486Ser)
c.1759A>T (p.Thr587Ser)
c.1993A>T (p.Thr665Ser)
c.1734+16826A>T (n.1734+16826A>T)
3g.32997230T>CCA352000562GLB1c.1849A>G (p.Thr617Ala)
c.1456A>G (p.Thr486Ala)
c.1759A>G (p.Thr587Ala)
c.1993A>G (p.Thr665Ala)
c.1734+16826A>G (n.1734+16826A>G)
 gnomAD v4
3g.32997230T>GCA352000564GLB1c.1849A>C (p.Thr617Pro)
c.1456A>C (p.Thr486Pro)
c.1759A>C (p.Thr587Pro)
c.1993A>C (p.Thr665Pro)
c.1734+16826A>C (n.1734+16826A>C)
3g.32997231G>ACA432960325GLB1c.1848C>T (p.Ile616=)
c.1455C>T (p.Ile485=)
c.1758C>T (p.Ile586=)
c.1992C>T (p.Ile664=)
c.1734+16825C>T (n.1734+16825C>T)
 dbSNP
3g.32997231G>CCA352000566GLB1c.1848C>G (p.Ile616Met)
c.1455C>G (p.Ile485Met)
c.1758C>G (p.Ile586Met)
c.1992C>G (p.Ile664Met)
c.1734+16825C>G (n.1734+16825C>G)
3g.32997231G=CA1355976951GLB1c.1848C= (p.Ile616=)
c.1455C= (p.Ile485=)
c.1758C= (p.Ile586=)
c.1992C= (p.Ile664=)
c.1734+16825C= (n.1734+16825C=)
3g.32997231G>TCA432960326GLB1c.1848C>A (p.Ile616=)
c.1455C>A (p.Ile485=)
c.1758C>A (p.Ile586=)
c.1992C>A (p.Ile664=)
c.1734+16825C>A (n.1734+16825C>A)
3g.32997232A>CCA352000567GLB1c.1847T>G (p.Ile616Ser)
c.1454T>G (p.Ile485Ser)
c.1757T>G (p.Ile586Ser)
c.1991T>G (p.Ile664Ser)
c.1734+16824T>G (n.1734+16824T>G)
3g.32997232A>GCA352000569GLB1c.1847T>C (p.Ile616Thr)
c.1454T>C (p.Ile485Thr)
c.1757T>C (p.Ile586Thr)
c.1991T>C (p.Ile664Thr)
c.1734+16824T>C (n.1734+16824T>C)
3g.32997232A>TCA352000570GLB1c.1847T>A (p.Ile616Asn)
c.1454T>A (p.Ile485Asn)
c.1757T>A (p.Ile586Asn)
c.1991T>A (p.Ile664Asn)
c.1734+16824T>A (n.1734+16824T>A)
3g.32997233T>ACA352000572GLB1c.1846A>T (p.Ile616Phe)
c.1453A>T (p.Ile485Phe)
c.1756A>T (p.Ile586Phe)
c.1990A>T (p.Ile664Phe)
c.1734+16823A>T (n.1734+16823A>T)
3g.32997233T>CCA352000574GLB1c.1846A>G (p.Ile616Val)
c.1453A>G (p.Ile485Val)
c.1756A>G (p.Ile586Val)
c.1990A>G (p.Ile664Val)
c.1734+16823A>G (n.1734+16823A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.32997233T>GCA352000571GLB1c.1846A>C (p.Ile616Leu)
c.1453A>C (p.Ile485Leu)
c.1756A>C (p.Ile586Leu)
c.1990A>C (p.Ile664Leu)
c.1734+16823A>C (n.1734+16823A>C)
3g.32997233T=CA1355976952GLB1c.1846A= (p.Ile616=)
c.1453A= (p.Ile485=)
c.1756A= (p.Ile586=)
c.1990A= (p.Ile664=)
c.1734+16823A= (n.1734+16823A=)
3g.32997234G>ACA432960329GLB1c.1845C>T (p.Thr615=)
c.1452C>T (p.Thr484=)
c.1755C>T (p.Thr585=)
c.1989C>T (p.Thr663=)
c.1734+16822C>T (n.1734+16822C>T)
3g.32997234G>CCA432960331GLB1c.1845C>G (p.Thr615=)
c.1452C>G (p.Thr484=)
c.1755C>G (p.Thr585=)
c.1989C>G (p.Thr663=)
c.1734+16822C>G (n.1734+16822C>G)
3g.32997234G>TCA432960333GLB1c.1845C>A (p.Thr615=)
c.1452C>A (p.Thr484=)
c.1755C>A (p.Thr585=)
c.1989C>A (p.Thr663=)
c.1734+16822C>A (n.1734+16822C>A)
3g.32997235G>ACA352000576GLB1c.1844C>T (p.Thr615Ile)
c.1451C>T (p.Thr484Ile)
c.1754C>T (p.Thr585Ile)
c.1988C>T (p.Thr663Ile)
c.1734+16821C>T (n.1734+16821C>T)
 gnomAD v4 COSMIC
3g.32997235G>CCA352000578GLB1c.1844C>G (p.Thr615Ser)
c.1451C>G (p.Thr484Ser)
c.1754C>G (p.Thr585Ser)
c.1988C>G (p.Thr663Ser)
c.1734+16821C>G (n.1734+16821C>G)
 dbSNP
3g.32997235G=CA1355976953GLB1c.1844C= (p.Thr615=)
c.1451C= (p.Thr484=)
c.1754C= (p.Thr585=)
c.1988C= (p.Thr663=)
c.1734+16821C= (n.1734+16821C=)
3g.32997235G>TCA2299285GLB1c.1844C>A (p.Thr615Asn)
c.1451C>A (p.Thr484Asn)
c.1754C>A (p.Thr585Asn)
c.1988C>A (p.Thr663Asn)
c.1734+16821C>A (n.1734+16821C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997236T>ACA352000581GLB1c.1843A>T (p.Thr615Ser)
c.1450A>T (p.Thr484Ser)
c.1753A>T (p.Thr585Ser)
c.1987A>T (p.Thr663Ser)
c.1734+16820A>T (n.1734+16820A>T)
3g.32997236T>CCA352000582GLB1c.1843A>G (p.Thr615Ala)
c.1450A>G (p.Thr484Ala)
c.1753A>G (p.Thr585Ala)
c.1987A>G (p.Thr663Ala)
c.1734+16820A>G (n.1734+16820A>G)
 dbSNP gnomAD v4
3g.32997236T>GCA352000584GLB1c.1843A>C (p.Thr615Pro)
c.1450A>C (p.Thr484Pro)
c.1753A>C (p.Thr585Pro)
c.1987A>C (p.Thr663Pro)
c.1734+16820A>C (n.1734+16820A>C)
3g.32997236T=CA1355976954GLB1c.1843A= (p.Thr615=)
c.1450A= (p.Thr484=)
c.1753A= (p.Thr585=)
c.1987A= (p.Thr663=)
c.1734+16820A= (n.1734+16820A=)
3g.32997237G>ACA432960336GLB1c.1842C>T (p.Asn614=)
c.1449C>T (p.Asn483=)
c.1752C>T (p.Asn584=)
c.1986C>T (p.Asn662=)
c.1734+16819C>T (n.1734+16819C>T)
 ClinVar
3g.32997237G>CCA352000588GLB1c.1842C>G (p.Asn614Lys)
c.1449C>G (p.Asn483Lys)
c.1752C>G (p.Asn584Lys)
c.1986C>G (p.Asn662Lys)
c.1734+16819C>G (n.1734+16819C>G)
3g.32997237G>TCA352000586GLB1c.1842C>A (p.Asn614Lys)
c.1449C>A (p.Asn483Lys)
c.1752C>A (p.Asn584Lys)
c.1986C>A (p.Asn662Lys)
c.1734+16819C>A (n.1734+16819C>A)
3g.32997238T>ACA352000591GLB1c.1841A>T (p.Asn614Ile)
c.1448A>T (p.Asn483Ile)
c.1751A>T (p.Asn584Ile)
c.1985A>T (p.Asn662Ile)
c.1734+16818A>T (n.1734+16818A>T)
3g.32997238T>CCA352000592GLB1c.1841A>G (p.Asn614Ser)
c.1448A>G (p.Asn483Ser)
c.1751A>G (p.Asn584Ser)
c.1985A>G (p.Asn662Ser)
c.1734+16818A>G (n.1734+16818A>G)
3g.32997238T>GCA352000594GLB1c.1841A>C (p.Asn614Thr)
c.1448A>C (p.Asn483Thr)
c.1751A>C (p.Asn584Thr)
c.1985A>C (p.Asn662Thr)
c.1734+16818A>C (n.1734+16818A>C)
3g.32997240dupCA2586971831GLB1c.1841dup (p.Asn614LysfsTer16)
c.1448dup (p.Asn483LysfsTer16)
c.1751dup (p.Asn584LysfsTer16)
c.1985dup (p.Asn662LysfsTer16)
c.1734+16818dup (n.1734+16818dup)
3g.32997239T>ACA352000596GLB1c.1840A>T (p.Asn614Tyr)
c.1447A>T (p.Asn483Tyr)
c.1750A>T (p.Asn584Tyr)
c.1984A>T (p.Asn662Tyr)
c.1734+16817A>T (n.1734+16817A>T)
3g.32997239T>CCA352000598GLB1c.1840A>G (p.Asn614Asp)
c.1447A>G (p.Asn483Asp)
c.1750A>G (p.Asn584Asp)
c.1984A>G (p.Asn662Asp)
c.1734+16817A>G (n.1734+16817A>G)
 dbSNP
3g.32997239T>GCA352000600GLB1c.1840A>C (p.Asn614His)
c.1447A>C (p.Asn483His)
c.1750A>C (p.Asn584His)
c.1984A>C (p.Asn662His)
c.1734+16817A>C (n.1734+16817A>C)
3g.32997239T=CA1355976955GLB1c.1840A= (p.Asn614=)
c.1447A= (p.Asn483=)
c.1750A= (p.Asn584=)
c.1984A= (p.Asn662=)
c.1734+16817A= (n.1734+16817A=)
3g.32997240T>ACA432960340GLB1c.1839A>T (p.Pro613=)
c.1446A>T (p.Pro482=)
c.1749A>T (p.Pro583=)
c.1983A>T (p.Pro661=)
c.1734+16816A>T (n.1734+16816A>T)
 COSMIC COSMIC
3g.32997240T>CCA432960342GLB1c.1839A>G (p.Pro613=)
c.1446A>G (p.Pro482=)
c.1749A>G (p.Pro583=)
c.1983A>G (p.Pro661=)
c.1734+16816A>G (n.1734+16816A>G)
3g.32997240T>GCA432960343GLB1c.1839A>C (p.Pro613=)
c.1446A>C (p.Pro482=)
c.1749A>C (p.Pro583=)
c.1983A>C (p.Pro661=)
c.1734+16816A>C (n.1734+16816A>C)
3g.32997240_32997242delinsTGGCA1355976956GLB1c.1837_1839delinsCCA (p.Pro613=)
c.1444_1446delinsCCA (p.Pro482=)
c.1747_1749delinsCCA (p.Pro583=)
c.1981_1983delinsCCA (p.Pro661=)
c.1734+16814_1734+16816delinsCCA (n.1734+16814_1734+16816delinsCCA)
3g.32997241G>ACA352000605GLB1c.1838C>T (p.Pro613Leu)
c.1445C>T (p.Pro482Leu)
c.1748C>T (p.Pro583Leu)
c.1982C>T (p.Pro661Leu)
c.1734+16815C>T (n.1734+16815C>T)
3g.32997241G>CCA352000602GLB1c.1838C>G (p.Pro613Arg)
c.1445C>G (p.Pro482Arg)
c.1748C>G (p.Pro583Arg)
c.1982C>G (p.Pro661Arg)
c.1734+16815C>G (n.1734+16815C>G)
3g.32997241G>TCA352000604GLB1c.1838C>A (p.Pro613Gln)
c.1445C>A (p.Pro482Gln)
c.1748C>A (p.Pro583Gln)
c.1982C>A (p.Pro661Gln)
c.1734+16815C>A (n.1734+16815C>A)
3g.32997244delCA2664926660GLB1c.1838del (p.Pro613GlnfsTer24)
c.1445del (p.Pro482GlnfsTer24)
c.1748del (p.Pro583GlnfsTer24)
c.1982del (p.Pro661GlnfsTer24)
c.1734+16815del (n.1734+16815del)
 gnomAD v4
3g.32997243_32997244delCA1139657921GLB1c.1837_1838del (p.Pro613LysfsTer16)
c.1444_1445del (p.Pro482LysfsTer16)
c.1747_1748del (p.Pro583LysfsTer16)
c.1981_1982del (p.Pro661LysfsTer16)
c.1734+16814_1734+16815del (n.1734+16814_1734+16815del)
 ClinVar dbSNP gnomAD v4
3g.32997242G>ACA352000606GLB1c.1837C>T (p.Pro613Ser)
c.1444C>T (p.Pro482Ser)
c.1747C>T (p.Pro583Ser)
c.1981C>T (p.Pro661Ser)
c.1734+16814C>T (n.1734+16814C>T)
 gnomAD v4
3g.32997242G>CCA352000608GLB1c.1837C>G (p.Pro613Ala)
c.1444C>G (p.Pro482Ala)
c.1747C>G (p.Pro583Ala)
c.1981C>G (p.Pro661Ala)
c.1734+16814C>G (n.1734+16814C>G)
 gnomAD v4
3g.32997242G>TCA352000610GLB1c.1837C>A (p.Pro613Thr)
c.1444C>A (p.Pro482Thr)
c.1747C>A (p.Pro583Thr)
c.1981C>A (p.Pro661Thr)
c.1734+16814C>A (n.1734+16814C>A)
3g.32997243G>ACA432960347GLB1c.1836C>T (p.Ala612=)
c.1443C>T (p.Ala481=)
c.1746C>T (p.Ala582=)
c.1980C>T (p.Ala660=)
c.1734+16813C>T (n.1734+16813C>T)
3g.32997243G>CCA432960348GLB1c.1836C>G (p.Ala612=)
c.1443C>G (p.Ala481=)
c.1746C>G (p.Ala582=)
c.1980C>G (p.Ala660=)
c.1734+16813C>G (n.1734+16813C>G)
3g.32997243G>TCA432960349GLB1c.1836C>A (p.Ala612=)
c.1443C>A (p.Ala481=)
c.1746C>A (p.Ala582=)
c.1980C>A (p.Ala660=)
c.1734+16813C>A (n.1734+16813C>A)
3g.32997244G>ACA352000612GLB1c.1835C>T (p.Ala612Val)
c.1442C>T (p.Ala481Val)
c.1745C>T (p.Ala582Val)
c.1979C>T (p.Ala660Val)
c.1734+16812C>T (n.1734+16812C>T)
 dbSNP gnomAD v4
3g.32997244G>CCA352000614GLB1c.1835C>G (p.Ala612Gly)
c.1442C>G (p.Ala481Gly)
c.1745C>G (p.Ala582Gly)
c.1979C>G (p.Ala660Gly)
c.1734+16812C>G (n.1734+16812C>G)
3g.32997244G=CA1355976957GLB1c.1835C= (p.Ala612=)
c.1442C= (p.Ala481=)
c.1745C= (p.Ala582=)
c.1979C= (p.Ala660=)
c.1734+16812C= (n.1734+16812C=)
3g.32997244G>TCA352000616GLB1c.1835C>A (p.Ala612Asp)
c.1442C>A (p.Ala481Asp)
c.1745C>A (p.Ala582Asp)
c.1979C>A (p.Ala660Asp)
c.1734+16812C>A (n.1734+16812C>A)
3g.32997245C>ACA352000618GLB1c.1834G>T (p.Ala612Ser)
c.1441G>T (p.Ala481Ser)
c.1744G>T (p.Ala582Ser)
c.1978G>T (p.Ala660Ser)
c.1734+16811G>T (n.1734+16811G>T)
3g.32997245C>GCA352000620GLB1c.1834G>C (p.Ala612Pro)
c.1441G>C (p.Ala481Pro)
c.1744G>C (p.Ala582Pro)
c.1978G>C (p.Ala660Pro)
c.1734+16811G>C (n.1734+16811G>C)
3g.32997245C>TCA352000621GLB1c.1834G>A (p.Ala612Thr)
c.1441G>A (p.Ala481Thr)
c.1744G>A (p.Ala582Thr)
c.1978G>A (p.Ala660Thr)
c.1734+16811G>A (n.1734+16811G>A)
3g.32997246C>ACA432960351GLB1c.1833G>T (p.Ser611=)
c.1440G>T (p.Ser480=)
c.1743G>T (p.Ser581=)
c.1977G>T (p.Ser659=)
c.1734+16810G>T (n.1734+16810G>T)
3g.32997246C=CA1355976958GLB1c.1833G= (p.Ser611=)
c.1440G= (p.Ser480=)
c.1743G= (p.Ser581=)
c.1977G= (p.Ser659=)
c.1734+16810G= (n.1734+16810G=)
3g.32997246C>GCA432960352GLB1c.1833G>C (p.Ser611=)
c.1440G>C (p.Ser480=)
c.1743G>C (p.Ser581=)
c.1977G>C (p.Ser659=)
c.1734+16810G>C (n.1734+16810G>C)
 ClinVar dbSNP gnomAD v4
3g.32997246C>TCA2299286GLB1c.1833G>A (p.Ser611=)
c.1440G>A (p.Ser480=)
c.1743G>A (p.Ser581=)
c.1977G>A (p.Ser659=)
c.1734+16810G>A (n.1734+16810G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997247G>ACA352000625GLB1c.1832C>T (p.Ser611Leu)
c.1439C>T (p.Ser480Leu)
c.1742C>T (p.Ser581Leu)
c.1976C>T (p.Ser659Leu)
c.1734+16809C>T (n.1734+16809C>T)
 gnomAD v4
3g.32997247G>CCA352000627GLB1c.1832C>G (p.Ser611Trp)
c.1439C>G (p.Ser480Trp)
c.1742C>G (p.Ser581Trp)
c.1976C>G (p.Ser659Trp)
c.1734+16809C>G (n.1734+16809C>G)
3g.32997247G>TCA352000628GLB1c.1832C>A (p.Ser611Ter)
c.1439C>A (p.Ser480Ter)
c.1742C>A (p.Ser581Ter)
c.1976C>A (p.Ser659Ter)
c.1734+16809C>A (n.1734+16809C>A)
3g.32997248A=CA1355976959GLB1c.1831T= (p.Ser611=)
c.1438T= (p.Ser480=)
c.1741T= (p.Ser581=)
c.1975T= (p.Ser659=)
c.1734+16808T= (n.1734+16808T=)
3g.32997248A>CCA352000630GLB1c.1831T>G (p.Ser611Ala)
c.1438T>G (p.Ser480Ala)
c.1741T>G (p.Ser581Ala)
c.1975T>G (p.Ser659Ala)
c.1734+16808T>G (n.1734+16808T>G)
 dbSNP gnomAD v3 gnomAD v4
3g.32997248A>GCA352000633GLB1c.1831T>C (p.Ser611Pro)
c.1438T>C (p.Ser480Pro)
c.1741T>C (p.Ser581Pro)
c.1975T>C (p.Ser659Pro)
c.1734+16808T>C (n.1734+16808T>C)
3g.32997248A>TCA352000631GLB1c.1831T>A (p.Ser611Thr)
c.1438T>A (p.Ser480Thr)
c.1741T>A (p.Ser581Thr)
c.1975T>A (p.Ser659Thr)
c.1734+16808T>A (n.1734+16808T>A)
3g.32997249G>ACA2299288GLB1c.1830C>T (p.Thr610=)
c.1437C>T (p.Thr479=)
c.1740C>T (p.Thr580=)
c.1974C>T (p.Thr658=)
c.1734+16807C>T (n.1734+16807C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32997249G>CCA2299287GLB1c.1830C>G (p.Thr610=)
c.1437C>G (p.Thr479=)
c.1740C>G (p.Thr580=)
c.1974C>G (p.Thr658=)
c.1734+16807C>G (n.1734+16807C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997249G=CA1355976960GLB1c.1830C= (p.Thr610=)
c.1437C= (p.Thr479=)
c.1740C= (p.Thr580=)
c.1974C= (p.Thr658=)
c.1734+16807C= (n.1734+16807C=)
3g.32997249G>TCA432960355GLB1c.1830C>A (p.Thr610=)
c.1437C>A (p.Thr479=)
c.1740C>A (p.Thr580=)
c.1974C>A (p.Thr658=)
c.1734+16807C>A (n.1734+16807C>A)
3g.32997250G>ACA352000638GLB1c.1829C>T (p.Thr610Ile)
c.1436C>T (p.Thr479Ile)
c.1739C>T (p.Thr580Ile)
c.1973C>T (p.Thr658Ile)
c.1734+16806C>T (n.1734+16806C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.32997250G>CCA352000640GLB1c.1829C>G (p.Thr610Ser)
c.1436C>G (p.Thr479Ser)
c.1739C>G (p.Thr580Ser)
c.1973C>G (p.Thr658Ser)
c.1734+16806C>G (n.1734+16806C>G)
3g.32997250G=CA1355976961GLB1c.1829C= (p.Thr610=)
c.1436C= (p.Thr479=)
c.1739C= (p.Thr580=)
c.1973C= (p.Thr658=)
c.1734+16806C= (n.1734+16806C=)
3g.32997250G>TCA2299289GLB1c.1829C>A (p.Thr610Asn)
c.1436C>A (p.Thr479Asn)
c.1739C>A (p.Thr580Asn)
c.1973C>A (p.Thr658Asn)
c.1734+16806C>A (n.1734+16806C>A)
 dbSNP ExAC gnomAD v2
3g.32997251T>ACA352000644GLB1c.1828A>T (p.Thr610Ser)
c.1435A>T (p.Thr479Ser)
c.1738A>T (p.Thr580Ser)
c.1972A>T (p.Thr658Ser)
c.1734+16805A>T (n.1734+16805A>T)
3g.32997251T>CCA352000645GLB1c.1828A>G (p.Thr610Ala)
c.1435A>G (p.Thr479Ala)
c.1738A>G (p.Thr580Ala)
c.1972A>G (p.Thr658Ala)
c.1734+16805A>G (n.1734+16805A>G)
3g.32997251T>GCA352000646GLB1c.1828A>C (p.Thr610Pro)
c.1435A>C (p.Thr479Pro)
c.1738A>C (p.Thr580Pro)
c.1972A>C (p.Thr658Pro)
c.1734+16805A>C (n.1734+16805A>C)
3g.32997251T=CA1355976962GLB1c.1828A= (p.Thr610=)
c.1435A= (p.Thr479=)
c.1738A= (p.Thr580=)
c.1972A= (p.Thr658=)
c.1734+16805A= (n.1734+16805A=)
3g.32997251_32997254delCA2586971832GLB1c.1825_1828del (p.Met609ProfsTer27)
c.1432_1435del (p.Met478ProfsTer27)
c.1735_1738del (p.Met579ProfsTer27)
c.1969_1972del (p.Met657ProfsTer27)
c.1734+16802_1734+16805del (n.1734+16802_1734+16805del)
3g.32997252C>ACA352000650GLB1c.1827G>T (p.Met609Ile)
c.1434G>T (p.Met478Ile)
c.1737G>T (p.Met579Ile)
c.1971G>T (p.Met657Ile)
c.1734+16804G>T (n.1734+16804G>T)
3g.32997252C>GCA352000652GLB1c.1827G>C (p.Met609Ile)
c.1434G>C (p.Met478Ile)
c.1737G>C (p.Met579Ile)
c.1971G>C (p.Met657Ile)
c.1734+16804G>C (n.1734+16804G>C)
3g.32997252C>TCA352000654GLB1c.1827G>A (p.Met609Ile)
c.1434G>A (p.Met478Ile)
c.1737G>A (p.Met579Ile)
c.1971G>A (p.Met657Ile)
c.1734+16804G>A (n.1734+16804G>A)
 COSMIC
3g.32997252dupCA2299290GLB1c.1827dup (p.Thr610AspfsTer20)
c.1434dup (p.Thr479AspfsTer20)
c.1737dup (p.Thr580AspfsTer20)
c.1971dup (p.Thr658AspfsTer20)
c.1734+16804dup (n.1734+16804dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997253A>CCA352000659GLB1c.1826T>G (p.Met609Arg)
c.1433T>G (p.Met478Arg)
c.1736T>G (p.Met579Arg)
c.1970T>G (p.Met657Arg)
c.1734+16803T>G (n.1734+16803T>G)
3g.32997253A>GCA352000658GLB1c.1826T>C (p.Met609Thr)
c.1433T>C (p.Met478Thr)
c.1736T>C (p.Met579Thr)
c.1970T>C (p.Met657Thr)
c.1734+16803T>C (n.1734+16803T>C)
3g.32997253A>TCA352000656GLB1c.1826T>A (p.Met609Lys)
c.1433T>A (p.Met478Lys)
c.1736T>A (p.Met579Lys)
c.1970T>A (p.Met657Lys)
c.1734+16803T>A (n.1734+16803T>A)
3g.32997254T>ACA352000662GLB1c.1825A>T (p.Met609Leu)
c.1432A>T (p.Met478Leu)
c.1735A>T (p.Met579Leu)
c.1969A>T (p.Met657Leu)
c.1734+16802A>T (n.1734+16802A>T)
3g.32997254T>CCA352000664GLB1c.1825A>G (p.Met609Val)
c.1432A>G (p.Met478Val)
c.1735A>G (p.Met579Val)
c.1969A>G (p.Met657Val)
c.1734+16802A>G (n.1734+16802A>G)
 gnomAD v4
3g.32997254T>GCA352000665GLB1c.1825A>C (p.Met609Leu)
c.1432A>C (p.Met478Leu)
c.1735A>C (p.Met579Leu)
c.1969A>C (p.Met657Leu)
c.1734+16802A>C (n.1734+16802A>C)
3g.32997255C>ACA432960383GLB1c.1824G>T (p.Leu608=)
c.1431G>T (p.Leu477=)
c.1734G>T (p.Leu578=)
c.1968G>T (p.Leu656=)
c.1734+16801G>T (n.1734+16801G>T)
3g.32997255C=CA1355976963GLB1c.1824G= (p.Leu608=)
c.1431G= (p.Leu477=)
c.1734G= (p.Leu578=)
c.1968G= (p.Leu656=)
c.1734+16801G= (n.1734+16801G=)
3g.32997255C>GCA146075GLB1c.1824G>C (p.Leu608=)
c.1431G>C (p.Leu477=)
c.1734G>C (p.Leu578=)
c.1968G>C (p.Leu656=)
c.1734+16801G>C (n.1734+16801G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997255C>TCA432960384GLB1c.1824G>A (p.Leu608=)
c.1431G>A (p.Leu477=)
c.1734G>A (p.Leu578=)
c.1968G>A (p.Leu656=)
c.1734+16801G>A (n.1734+16801G>A)
3g.32997256A>CCA352000668GLB1c.1823T>G (p.Leu608Arg)
c.1430T>G (p.Leu477Arg)
c.1733T>G (p.Leu578Arg)
c.1967T>G (p.Leu656Arg)
c.1734+16800T>G (n.1734+16800T>G)
3g.32997256A>GCA352000669GLB1c.1823T>C (p.Leu608Pro)
c.1430T>C (p.Leu477Pro)
c.1733T>C (p.Leu578Pro)
c.1967T>C (p.Leu656Pro)
c.1734+16800T>C (n.1734+16800T>C)
3g.32997256A>TCA352000671GLB1c.1823T>A (p.Leu608Gln)
c.1430T>A (p.Leu477Gln)
c.1733T>A (p.Leu578Gln)
c.1967T>A (p.Leu656Gln)
c.1734+16800T>A (n.1734+16800T>A)
3g.32997257G>ACA432960385GLB1c.1822C>T (p.Leu608=)
c.1429C>T (p.Leu477=)
c.1732C>T (p.Leu578=)
c.1966C>T (p.Leu656=)
c.1734+16799C>T (n.1734+16799C>T)
3g.32997257G>CCA352000673GLB1c.1822C>G (p.Leu608Val)
c.1429C>G (p.Leu477Val)
c.1732C>G (p.Leu578Val)
c.1966C>G (p.Leu656Val)
c.1734+16799C>G (n.1734+16799C>G)
3g.32997257G>TCA352000675GLB1c.1822C>A (p.Leu608Met)
c.1429C>A (p.Leu477Met)
c.1732C>A (p.Leu578Met)
c.1966C>A (p.Leu656Met)
c.1734+16799C>A (n.1734+16799C>A)
3g.32997258G>ACA432960386GLB1c.1821C>T (p.Ile607=)
c.1428C>T (p.Ile476=)
c.1731C>T (p.Ile577=)
c.1965C>T (p.Ile655=)
c.1734+16798C>T (n.1734+16798C>T)
3g.32997258G>CCA72667219GLB1c.1821C>G (p.Ile607Met)
c.1428C>G (p.Ile476Met)
c.1731C>G (p.Ile577Met)
c.1965C>G (p.Ile655Met)
c.1734+16798C>G (n.1734+16798C>G)
 dbSNP gnomAD v4
3g.32997258G=CA1355976964GLB1c.1821C= (p.Ile607=)
c.1428C= (p.Ile476=)
c.1731C= (p.Ile577=)
c.1965C= (p.Ile655=)
c.1734+16798C= (n.1734+16798C=)
3g.32997258G>TCA432960388GLB1c.1821C>A (p.Ile607=)
c.1428C>A (p.Ile476=)
c.1731C>A (p.Ile577=)
c.1965C>A (p.Ile655=)
c.1734+16798C>A (n.1734+16798C>A)
 ClinVar dbSNP
3g.32997259A>CCA352000676GLB1c.1820T>G (p.Ile607Ser)
c.1427T>G (p.Ile476Ser)
c.1730T>G (p.Ile577Ser)
c.1964T>G (p.Ile655Ser)
c.1734+16797T>G (n.1734+16797T>G)
3g.32997259A>GCA352000677GLB1c.1820T>C (p.Ile607Thr)
c.1427T>C (p.Ile476Thr)
c.1730T>C (p.Ile577Thr)
c.1964T>C (p.Ile655Thr)
c.1734+16797T>C (n.1734+16797T>C)
3g.32997259A>TCA352000678GLB1c.1820T>A (p.Ile607Asn)
c.1427T>A (p.Ile476Asn)
c.1730T>A (p.Ile577Asn)
c.1964T>A (p.Ile655Asn)
c.1734+16797T>A (n.1734+16797T>A)
3g.32997260T>ACA352000680GLB1c.1819A>T (p.Ile607Phe)
c.1426A>T (p.Ile476Phe)
c.1729A>T (p.Ile577Phe)
c.1963A>T (p.Ile655Phe)
c.1734+16796A>T (n.1734+16796A>T)
3g.32997260T>CCA352000681GLB1c.1819A>G (p.Ile607Val)
c.1426A>G (p.Ile476Val)
c.1729A>G (p.Ile577Val)
c.1963A>G (p.Ile655Val)
c.1734+16796A>G (n.1734+16796A>G)
3g.32997260T>GCA352000679GLB1c.1819A>C (p.Ile607Leu)
c.1426A>C (p.Ile476Leu)
c.1729A>C (p.Ile577Leu)
c.1963A>C (p.Ile655Leu)
c.1734+16796A>C (n.1734+16796A>C)
3g.32997261G>ACA432960391GLB1c.1818C>T (p.His606=)
c.1425C>T (p.His475=)
c.1728C>T (p.His576=)
c.1962C>T (p.His654=)
c.1734+16795C>T (n.1734+16795C>T)
 dbSNP gnomAD v4
3g.32997261G>CCA352000683GLB1c.1818C>G (p.His606Gln)
c.1425C>G (p.His475Gln)
c.1728C>G (p.His576Gln)
c.1962C>G (p.His654Gln)
c.1734+16795C>G (n.1734+16795C>G)
3g.32997261G=CA1355976965GLB1c.1818C= (p.His606=)
c.1425C= (p.His475=)
c.1728C= (p.His576=)
c.1962C= (p.His654=)
c.1734+16795C= (n.1734+16795C=)
3g.32997261G>TCA352000682GLB1c.1818C>A (p.His606Gln)
c.1425C>A (p.His475Gln)
c.1728C>A (p.His576Gln)
c.1962C>A (p.His654Gln)
c.1734+16795C>A (n.1734+16795C>A)
3g.32997262T>ACA352000686GLB1c.1817A>T (p.His606Leu)
c.1424A>T (p.His475Leu)
c.1727A>T (p.His576Leu)
c.1961A>T (p.His654Leu)
c.1734+16794A>T (n.1734+16794A>T)
3g.32997262T>CCA352000684GLB1c.1817A>G (p.His606Arg)
c.1424A>G (p.His475Arg)
c.1727A>G (p.His576Arg)
c.1961A>G (p.His654Arg)
c.1734+16794A>G (n.1734+16794A>G)
3g.32997262T>GCA352000685GLB1c.1817A>C (p.His606Pro)
c.1424A>C (p.His475Pro)
c.1727A>C (p.His576Pro)
c.1961A>C (p.His654Pro)
c.1734+16794A>C (n.1734+16794A>C)
 gnomAD v4
3g.32997263G>ACA352000687GLB1c.1816C>T (p.His606Tyr)
c.1423C>T (p.His475Tyr)
c.1726C>T (p.His576Tyr)
c.1960C>T (p.His654Tyr)
c.1734+16793C>T (n.1734+16793C>T)
3g.32997263G>CCA352000688GLB1c.1816C>G (p.His606Asp)
c.1423C>G (p.His475Asp)
c.1726C>G (p.His576Asp)
c.1960C>G (p.His654Asp)
c.1734+16793C>G (n.1734+16793C>G)
3g.32997263G>TCA352000689GLB1c.1816C>A (p.His606Asn)
c.1423C>A (p.His475Asn)
c.1726C>A (p.His576Asn)
c.1960C>A (p.His654Asn)
c.1734+16793C>A (n.1734+16793C>A)
3g.32997264C>ACA352000690GLB1c.1815G>T (p.Gln605His)
c.1422G>T (p.Gln474His)
c.1725G>T (p.Gln575His)
c.1959G>T (p.Gln653His)
c.1734+16792G>T (n.1734+16792G>T)
3g.32997264C=CA1355976966GLB1c.1815G= (p.Gln605=)
c.1422G= (p.Gln474=)
c.1725G= (p.Gln575=)
c.1959G= (p.Gln653=)
c.1734+16792G= (n.1734+16792G=)
3g.32997264C>GCA352000691GLB1c.1815G>C (p.Gln605His)
c.1422G>C (p.Gln474His)
c.1725G>C (p.Gln575His)
c.1959G>C (p.Gln653His)
c.1734+16792G>C (n.1734+16792G>C)
 gnomAD v4
3g.32997264C>TCA2299291GLB1c.1815G>A (p.Gln605=)
c.1422G>A (p.Gln474=)
c.1725G>A (p.Gln575=)
c.1959G>A (p.Gln653=)
c.1734+16792G>A (n.1734+16792G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997265T>ACA2299292GLB1c.1814A>T (p.Gln605Leu)
c.1421A>T (p.Gln474Leu)
c.1724A>T (p.Gln575Leu)
c.1958A>T (p.Gln653Leu)
c.1734+16791A>T (n.1734+16791A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32997265T>CCA352000693GLB1c.1814A>G (p.Gln605Arg)
c.1421A>G (p.Gln474Arg)
c.1724A>G (p.Gln575Arg)
c.1958A>G (p.Gln653Arg)
c.1734+16791A>G (n.1734+16791A>G)
 dbSNP
3g.32997265T>GCA352000692GLB1c.1814A>C (p.Gln605Pro)
c.1421A>C (p.Gln474Pro)
c.1724A>C (p.Gln575Pro)
c.1958A>C (p.Gln653Pro)
c.1734+16791A>C (n.1734+16791A>C)
3g.32997265T=CA1355976967GLB1c.1814A= (p.Gln605=)
c.1421A= (p.Gln474=)
c.1724A= (p.Gln575=)
c.1958A= (p.Gln653=)
c.1734+16791A= (n.1734+16791A=)
3g.32997266G>ACA352000694GLB1c.1813C>T (p.Gln605Ter)
c.1420C>T (p.Gln474Ter)
c.1723C>T (p.Gln575Ter)
c.1957C>T (p.Gln653Ter)
c.1734+16790C>T (n.1734+16790C>T)
3g.32997266G>CCA352000695GLB1c.1813C>G (p.Gln605Glu)
c.1420C>G (p.Gln474Glu)
c.1723C>G (p.Gln575Glu)
c.1957C>G (p.Gln653Glu)
c.1734+16790C>G (n.1734+16790C>G)
3g.32997266G>TCA352000696GLB1c.1813C>A (p.Gln605Lys)
c.1420C>A (p.Gln474Lys)
c.1723C>A (p.Gln575Lys)
c.1957C>A (p.Gln653Lys)
c.1734+16790C>A (n.1734+16790C>A)
3g.32997269delCA432960398GLB1c.1813del (p.Gln605SerfsTer4)
c.1420del (p.Gln474SerfsTer4)
c.1723del (p.Gln575SerfsTer4)
c.1957del (p.Gln653SerfsTer4)
c.1734+16790del (n.1734+16790del)
3g.32997267G>ACA2299293GLB1c.1812C>T (p.Pro604=)
c.1419C>T (p.Pro473=)
c.1722C>T (p.Pro574=)
c.1956C>T (p.Pro652=)
c.1734+16789C>T (n.1734+16789C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.32997267G>CCA432960399GLB1c.1812C>G (p.Pro604=)
c.1419C>G (p.Pro473=)
c.1722C>G (p.Pro574=)
c.1956C>G (p.Pro652=)
c.1734+16789C>G (n.1734+16789C>G)
 ClinVar dbSNP
3g.32997267G=CA1355976968GLB1c.1812C= (p.Pro604=)
c.1419C= (p.Pro473=)
c.1722C= (p.Pro574=)
c.1956C= (p.Pro652=)
c.1734+16789C= (n.1734+16789C=)
3g.32997267G>TCA432960400GLB1c.1812C>A (p.Pro604=)
c.1419C>A (p.Pro473=)
c.1722C>A (p.Pro574=)
c.1956C>A (p.Pro652=)
c.1734+16789C>A (n.1734+16789C>A)
3g.32997268G>ACA352000697GLB1c.1811C>T (p.Pro604Leu)
c.1418C>T (p.Pro473Leu)
c.1721C>T (p.Pro574Leu)
c.1955C>T (p.Pro652Leu)
c.1734+16788C>T (n.1734+16788C>T)
3g.32997268G>CCA352000699GLB1c.1811C>G (p.Pro604Arg)
c.1418C>G (p.Pro473Arg)
c.1721C>G (p.Pro574Arg)
c.1955C>G (p.Pro652Arg)
c.1734+16788C>G (n.1734+16788C>G)
3g.32997268G>TCA352000698GLB1c.1811C>A (p.Pro604His)
c.1418C>A (p.Pro473His)
c.1721C>A (p.Pro574His)
c.1955C>A (p.Pro652His)
c.1734+16788C>A (n.1734+16788C>A)
 gnomAD v4
3g.32997269G>ACA352000700GLB1c.1810C>T (p.Pro604Ser)
c.1417C>T (p.Pro473Ser)
c.1720C>T (p.Pro574Ser)
c.1954C>T (p.Pro652Ser)
c.1734+16787C>T (n.1734+16787C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.32997269G>CCA352000701GLB1c.1810C>G (p.Pro604Ala)
c.1417C>G (p.Pro473Ala)
c.1720C>G (p.Pro574Ala)
c.1954C>G (p.Pro652Ala)
c.1734+16787C>G (n.1734+16787C>G)
3g.32997269G=CA1355976969GLB1c.1810C= (p.Pro604=)
c.1417C= (p.Pro473=)
c.1720C= (p.Pro574=)
c.1954C= (p.Pro652=)
c.1734+16787C= (n.1734+16787C=)
3g.32997269G>TCA352000702GLB1c.1810C>A (p.Pro604Thr)
c.1417C>A (p.Pro473Thr)
c.1720C>A (p.Pro574Thr)
c.1954C>A (p.Pro652Thr)
c.1734+16787C>A (n.1734+16787C>A)
3g.32997270C>ACA432960402GLB1c.1809G>T (p.Val603=)
c.1416G>T (p.Val472=)
c.1719G>T (p.Val573=)
c.1953G>T (p.Val651=)
c.1734+16786G>T (n.1734+16786G>T)
3g.32997270C>GCA432960403GLB1c.1809G>C (p.Val603=)
c.1416G>C (p.Val472=)
c.1719G>C (p.Val573=)
c.1953G>C (p.Val651=)
c.1734+16786G>C (n.1734+16786G>C)
3g.32997270C>TCA432960404GLB1c.1809G>A (p.Val603=)
c.1416G>A (p.Val472=)
c.1719G>A (p.Val573=)
c.1953G>A (p.Val651=)
c.1734+16786G>A (n.1734+16786G>A)
 gnomAD v4
3g.32997271A=CA1355976970GLB1c.1808T= (p.Val603=)
c.1415T= (p.Val472=)
c.1718T= (p.Val573=)
c.1952T= (p.Val651=)
c.1734+16785T= (n.1734+16785T=)
3g.32997271A>CCA352000703GLB1c.1808T>G (p.Val603Gly)
c.1415T>G (p.Val472Gly)
c.1718T>G (p.Val573Gly)
c.1952T>G (p.Val651Gly)
c.1734+16785T>G (n.1734+16785T>G)
3g.32997271A>GCA352000704GLB1c.1808T>C (p.Val603Ala)
c.1415T>C (p.Val472Ala)
c.1718T>C (p.Val573Ala)
c.1952T>C (p.Val651Ala)
c.1734+16785T>C (n.1734+16785T>C)
 dbSNP
3g.32997271A>TCA352000705GLB1c.1808T>A (p.Val603Glu)
c.1415T>A (p.Val472Glu)
c.1718T>A (p.Val573Glu)
c.1952T>A (p.Val651Glu)
c.1734+16785T>A (n.1734+16785T>A)
3g.32997272C>ACA352000706GLB1c.1807G>T (p.Val603Leu)
c.1414G>T (p.Val472Leu)
c.1717G>T (p.Val573Leu)
c.1951G>T (p.Val651Leu)
c.1734+16784G>T (n.1734+16784G>T)
3g.32997272C>GCA352000707GLB1c.1807G>C (p.Val603Leu)
c.1414G>C (p.Val472Leu)
c.1717G>C (p.Val573Leu)
c.1951G>C (p.Val651Leu)
c.1734+16784G>C (n.1734+16784G>C)
3g.32997272C>TCA352000708GLB1c.1807G>A (p.Val603Met)
c.1414G>A (p.Val472Met)
c.1717G>A (p.Val573Met)
c.1951G>A (p.Val651Met)
c.1734+16784G>A (n.1734+16784G>A)
 gnomAD v4
3g.32997273A>CCA352000709GLB1c.1806T>G (p.Phe602Leu)
c.1413T>G (p.Phe471Leu)
c.1716T>G (p.Phe572Leu)
c.1950T>G (p.Phe650Leu)
c.1734+16783T>G (n.1734+16783T>G)
3g.32997273A>GCA432960405GLB1c.1806T>C (p.Phe602=)
c.1413T>C (p.Phe471=)
c.1716T>C (p.Phe572=)
c.1950T>C (p.Phe650=)
c.1734+16783T>C (n.1734+16783T>C)
3g.32997273A>TCA352000710GLB1c.1806T>A (p.Phe602Leu)
c.1413T>A (p.Phe471Leu)
c.1716T>A (p.Phe572Leu)
c.1950T>A (p.Phe650Leu)
c.1734+16783T>A (n.1734+16783T>A)
3g.32997274A>CCA352000711GLB1c.1805T>G (p.Phe602Cys)
c.1412T>G (p.Phe471Cys)
c.1715T>G (p.Phe572Cys)
c.1949T>G (p.Phe650Cys)
c.1734+16782T>G (n.1734+16782T>G)
3g.32997274A>GCA352000713GLB1c.1805T>C (p.Phe602Ser)
c.1412T>C (p.Phe471Ser)
c.1715T>C (p.Phe572Ser)
c.1949T>C (p.Phe650Ser)
c.1734+16782T>C (n.1734+16782T>C)
3g.32997274A>TCA352000712GLB1c.1805T>A (p.Phe602Tyr)
c.1412T>A (p.Phe471Tyr)
c.1715T>A (p.Phe572Tyr)
c.1949T>A (p.Phe650Tyr)
c.1734+16782T>A (n.1734+16782T>A)
3g.32997275A>CCA352000714GLB1c.1804T>G (p.Phe602Val)
c.1411T>G (p.Phe471Val)
c.1714T>G (p.Phe572Val)
c.1948T>G (p.Phe650Val)
c.1734+16781T>G (n.1734+16781T>G)
3g.32997275A>GCA352000715GLB1c.1804T>C (p.Phe602Leu)
c.1411T>C (p.Phe471Leu)
c.1714T>C (p.Phe572Leu)
c.1948T>C (p.Phe650Leu)
c.1734+16781T>C (n.1734+16781T>C)
3g.32997275A>TCA352000716GLB1c.1804T>A (p.Phe602Ile)
c.1411T>A (p.Phe471Ile)
c.1714T>A (p.Phe572Ile)
c.1948T>A (p.Phe650Ile)
c.1734+16781T>A (n.1734+16781T>A)
3g.32997276C>ACA352000717GLB1c.1803G>T (p.Leu601Phe)
c.1410G>T (p.Leu470Phe)
c.1713G>T (p.Leu571Phe)
c.1947G>T (p.Leu649Phe)
c.1734+16780G>T (n.1734+16780G>T)
3g.32997276C>GCA352000718GLB1c.1803G>C (p.Leu601Phe)
c.1410G>C (p.Leu470Phe)
c.1713G>C (p.Leu571Phe)
c.1947G>C (p.Leu649Phe)
c.1734+16780G>C (n.1734+16780G>C)
3g.32997276C>TCA432960408GLB1c.1803G>A (p.Leu601=)
c.1410G>A (p.Leu470=)
c.1713G>A (p.Leu571=)
c.1947G>A (p.Leu649=)
c.1734+16780G>A (n.1734+16780G>A)
 ClinVar dbSNP
3g.32997277A=CA1355976971GLB1c.1802T= (p.Leu601=)
c.1409T= (p.Leu470=)
c.1712T= (p.Leu571=)
c.1946T= (p.Leu649=)
c.1734+16779T= (n.1734+16779T=)
3g.32997277A>CCA352000719GLB1c.1802T>G (p.Leu601Trp)
c.1409T>G (p.Leu470Trp)
c.1712T>G (p.Leu571Trp)
c.1946T>G (p.Leu649Trp)
c.1734+16779T>G (n.1734+16779T>G)
3g.32997277A>GCA352000720GLB1c.1802T>C (p.Leu601Ser)
c.1409T>C (p.Leu470Ser)
c.1712T>C (p.Leu571Ser)
c.1946T>C (p.Leu649Ser)
c.1734+16779T>C (n.1734+16779T>C)
 dbSNP
3g.32997277A>TCA352000721GLB1c.1802T>A (p.Leu601Ter)
c.1409T>A (p.Leu470Ter)
c.1712T>A (p.Leu571Ter)
c.1946T>A (p.Leu649Ter)
c.1734+16779T>A (n.1734+16779T>A)
3g.32997278A=CA1355976972GLB1c.1801T= (p.Leu601=)
c.1408T= (p.Leu470=)
c.1711T= (p.Leu571=)
c.1945T= (p.Leu649=)
c.1734+16778T= (n.1734+16778T=)
3g.32997278A>CCA72667231GLB1c.1801T>G (p.Leu601Val)
c.1408T>G (p.Leu470Val)
c.1711T>G (p.Leu571Val)
c.1945T>G (p.Leu649Val)
c.1734+16778T>G (n.1734+16778T>G)
 dbSNP gnomAD v4
3g.32997278A>GCA432960409GLB1c.1801T>C (p.Leu601=)
c.1408T>C (p.Leu470=)
c.1711T>C (p.Leu571=)
c.1945T>C (p.Leu649=)
c.1734+16778T>C (n.1734+16778T>C)
 ClinVar
3g.32997278A>TCA352000722GLB1c.1801T>A (p.Leu601Met)
c.1408T>A (p.Leu470Met)
c.1711T>A (p.Leu571Met)
c.1945T>A (p.Leu649Met)
c.1734+16778T>A (n.1734+16778T>A)
3g.32997279G>ACA432960412GLB1c.1800C>T (p.Thr600=)
c.1407C>T (p.Thr469=)
c.1710C>T (p.Thr570=)
c.1944C>T (p.Thr648=)
c.1734+16777C>T (n.1734+16777C>T)
 dbSNP
3g.32997279G>CCA432960411GLB1c.1800C>G (p.Thr600=)
c.1407C>G (p.Thr469=)
c.1710C>G (p.Thr570=)
c.1944C>G (p.Thr648=)
c.1734+16777C>G (n.1734+16777C>G)
3g.32997279G=CA1355976973GLB1c.1800C= (p.Thr600=)
c.1407C= (p.Thr469=)
c.1710C= (p.Thr570=)
c.1944C= (p.Thr648=)
c.1734+16777C= (n.1734+16777C=)
3g.32997279G>TCA432960410GLB1c.1800C>A (p.Thr600=)
c.1407C>A (p.Thr469=)
c.1710C>A (p.Thr570=)
c.1944C>A (p.Thr648=)
c.1734+16777C>A (n.1734+16777C>A)
3g.32997280G>ACA352000723GLB1c.1799C>T (p.Thr600Ile)
c.1406C>T (p.Thr469Ile)
c.1709C>T (p.Thr570Ile)
c.1943C>T (p.Thr648Ile)
c.1734+16776C>T (n.1734+16776C>T)
3g.32997280G>CCA352000724GLB1c.1799C>G (p.Thr600Ser)
c.1406C>G (p.Thr469Ser)
c.1709C>G (p.Thr570Ser)
c.1943C>G (p.Thr648Ser)
c.1734+16776C>G (n.1734+16776C>G)
3g.32997280G>TCA352000725GLB1c.1799C>A (p.Thr600Asn)
c.1406C>A (p.Thr469Asn)
c.1709C>A (p.Thr570Asn)
c.1943C>A (p.Thr648Asn)
c.1734+16776C>A (n.1734+16776C>A)
3g.32997281T>ACA352000726GLB1c.1798A>T (p.Thr600Ser)
c.1405A>T (p.Thr469Ser)
c.1708A>T (p.Thr570Ser)
c.1942A>T (p.Thr648Ser)
c.1734+16775A>T (n.1734+16775A>T)
3g.32997281T>CCA352000728GLB1c.1798A>G (p.Thr600Ala)
c.1405A>G (p.Thr469Ala)
c.1708A>G (p.Thr570Ala)
c.1942A>G (p.Thr648Ala)
c.1734+16775A>G (n.1734+16775A>G)
3g.32997281T>GCA352000727GLB1c.1798A>C (p.Thr600Pro)
c.1405A>C (p.Thr469Pro)
c.1708A>C (p.Thr570Pro)
c.1942A>C (p.Thr648Pro)
c.1734+16775A>C (n.1734+16775A>C)
3g.32997282C>ACA352000729GLB1c.1797G>T (p.Leu599Phe)
c.1404G>T (p.Leu468Phe)
c.1707G>T (p.Leu569Phe)
c.1941G>T (p.Leu647Phe)
c.1734+16774G>T (n.1734+16774G>T)
3g.32997282C>GCA352000730GLB1c.1797G>C (p.Leu599Phe)
c.1404G>C (p.Leu468Phe)
c.1707G>C (p.Leu569Phe)
c.1941G>C (p.Leu647Phe)
c.1734+16774G>C (n.1734+16774G>C)
3g.32997282C>TCA432960413GLB1c.1797G>A (p.Leu599=)
c.1404G>A (p.Leu468=)
c.1707G>A (p.Leu569=)
c.1941G>A (p.Leu647=)
c.1734+16774G>A (n.1734+16774G>A)
3g.32997283A>CCA352000731GLB1c.1796T>G (p.Leu599Trp)
c.1403T>G (p.Leu468Trp)
c.1706T>G (p.Leu569Trp)
c.1940T>G (p.Leu647Trp)
c.1734+16773T>G (n.1734+16773T>G)
3g.32997283A>GCA352000732GLB1c.1796T>C (p.Leu599Ser)
c.1403T>C (p.Leu468Ser)
c.1706T>C (p.Leu569Ser)
c.1940T>C (p.Leu647Ser)
c.1734+16773T>C (n.1734+16773T>C)
3g.32997283A>TCA352000733GLB1c.1796T>A (p.Leu599Ter)
c.1403T>A (p.Leu468Ter)
c.1706T>A (p.Leu569Ter)
c.1940T>A (p.Leu647Ter)
c.1734+16773T>A (n.1734+16773T>A)
3g.32997284A>CCA352000734GLB1c.1795T>G (p.Leu599Val)
c.1402T>G (p.Leu468Val)
c.1705T>G (p.Leu569Val)
c.1939T>G (p.Leu647Val)
c.1734+16772T>G (n.1734+16772T>G)
3g.32997284A>GCA432960414GLB1c.1795T>C (p.Leu599=)
c.1402T>C (p.Leu468=)
c.1705T>C (p.Leu569=)
c.1939T>C (p.Leu647=)
c.1734+16772T>C (n.1734+16772T>C)
3g.32997284A>TCA352000735GLB1c.1795T>A (p.Leu599Met)
c.1402T>A (p.Leu468Met)
c.1705T>A (p.Leu569Met)
c.1939T>A (p.Leu647Met)
c.1734+16772T>A (n.1734+16772T>A)
3g.32997285C>ACA352000736GLB1c.1794G>T (p.Gln598His)
c.1401G>T (p.Gln467His)
c.1704G>T (p.Gln568His)
c.1938G>T (p.Gln646His)
c.1734+16771G>T (n.1734+16771G>T)
3g.32997285C=CA1355976974GLB1c.1794G= (p.Gln598=)
c.1401G= (p.Gln467=)
c.1704G= (p.Gln568=)
c.1938G= (p.Gln646=)
c.1734+16771G= (n.1734+16771G=)
3g.32997285C>GCA352000737GLB1c.1794G>C (p.Gln598His)
c.1401G>C (p.Gln467His)
c.1704G>C (p.Gln568His)
c.1938G>C (p.Gln646His)
c.1734+16771G>C (n.1734+16771G>C)
 gnomAD v4
3g.32997285C>TCA2299294GLB1c.1794G>A (p.Gln598=)
c.1401G>A (p.Gln467=)
c.1704G>A (p.Gln568=)
c.1938G>A (p.Gln646=)
c.1734+16771G>A (n.1734+16771G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.32997286T>ACA352000739GLB1c.1793A>T (p.Gln598Leu)
c.1400A>T (p.Gln467Leu)
c.1703A>T (p.Gln568Leu)
c.1937A>T (p.Gln646Leu)
c.1734+16770A>T (n.1734+16770A>T)
3g.32997286T>CCA2299295GLB1c.1793A>G (p.Gln598Arg)
c.1400A>G (p.Gln467Arg)
c.1703A>G (p.Gln568Arg)
c.1937A>G (p.Gln646Arg)
c.1734+16770A>G (n.1734+16770A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32997286T>GCA352000738GLB1c.1793A>C (p.Gln598Pro)
c.1400A>C (p.Gln467Pro)
c.1703A>C (p.Gln568Pro)
c.1937A>C (p.Gln646Pro)
c.1734+16770A>C (n.1734+16770A>C)
3g.32997286T=CA1355976975GLB1c.1793A= (p.Gln598=)
c.1400A= (p.Gln467=)
c.1703A= (p.Gln568=)
c.1937A= (p.Gln646=)
c.1734+16770A= (n.1734+16770A=)
3g.32997287G>ACA352000740GLB1c.1792C>T (p.Gln598Ter)
c.1399C>T (p.Gln467Ter)
c.1702C>T (p.Gln568Ter)
c.1936C>T (p.Gln646Ter)
c.1734+16769C>T (n.1734+16769C>T)
 dbSNP
3g.32997287G>CCA352000741GLB1c.1792C>G (p.Gln598Glu)
c.1399C>G (p.Gln467Glu)
c.1702C>G (p.Gln568Glu)
c.1936C>G (p.Gln646Glu)
c.1734+16769C>G (n.1734+16769C>G)
3g.32997287G=CA1355976976GLB1c.1792C= (p.Gln598=)
c.1399C= (p.Gln467=)
c.1702C= (p.Gln568=)
c.1936C= (p.Gln646=)
c.1734+16769C= (n.1734+16769C=)
3g.32997287G>TCA352000742GLB1c.1792C>A (p.Gln598Lys)
c.1399C>A (p.Gln467Lys)
c.1702C>A (p.Gln568Lys)
c.1936C>A (p.Gln646Lys)
c.1734+16769C>A (n.1734+16769C>A)
3g.32997288A>CCA432960415GLB1c.1791T>G (p.Pro597=)
c.1398T>G (p.Pro466=)
c.1701T>G (p.Pro567=)
c.1935T>G (p.Pro645=)
c.1734+16768T>G (n.1734+16768T>G)
3g.32997288A>GCA432960416GLB1c.1791T>C (p.Pro597=)
c.1398T>C (p.Pro466=)
c.1701T>C (p.Pro567=)
c.1935T>C (p.Pro645=)
c.1734+16768T>C (n.1734+16768T>C)
3g.32997288A>TCA432960417GLB1c.1791T>A (p.Pro597=)
c.1398T>A (p.Pro466=)
c.1701T>A (p.Pro567=)
c.1935T>A (p.Pro645=)
c.1734+16768T>A (n.1734+16768T>A)
3g.32997289G>ACA352000743GLB1c.1790C>T (p.Pro597Leu)
c.1397C>T (p.Pro466Leu)
c.1700C>T (p.Pro567Leu)
c.1934C>T (p.Pro645Leu)
c.1734+16767C>T (n.1734+16767C>T)
3g.32997289G>CCA352000744GLB1c.1790C>G (p.Pro597Arg)
c.1397C>G (p.Pro466Arg)
c.1700C>G (p.Pro567Arg)
c.1934C>G (p.Pro645Arg)
c.1734+16767C>G (n.1734+16767C>G)
 gnomAD v4
3g.32997289G>TCA352000745GLB1c.1790C>A (p.Pro597His)
c.1397C>A (p.Pro466His)
c.1700C>A (p.Pro567His)
c.1934C>A (p.Pro645His)
c.1734+16767C>A (n.1734+16767C>A)
3g.32997290G>ACA352000748GLB1c.1789C>T (p.Pro597Ser)
c.1396C>T (p.Pro466Ser)
c.1699C>T (p.Pro567Ser)
c.1933C>T (p.Pro645Ser)
c.1734+16766C>T (n.1734+16766C>T)
 gnomAD v4
3g.32997290G>CCA352000747GLB1c.1789C>G (p.Pro597Ala)
c.1396C>G (p.Pro466Ala)
c.1699C>G (p.Pro567Ala)
c.1933C>G (p.Pro645Ala)
c.1734+16766C>G (n.1734+16766C>G)
3g.32997290G>TCA352000746GLB1c.1789C>A (p.Pro597Thr)
c.1396C>A (p.Pro466Thr)
c.1699C>A (p.Pro567Thr)
c.1933C>A (p.Pro645Thr)
c.1734+16766C>A (n.1734+16766C>A)
3g.32997291G>ACA432960418GLB1c.1788C>T (p.Gly596=)
c.1395C>T (p.Gly465=)
c.1698C>T (p.Gly566=)
c.1932C>T (p.Gly644=)
c.1734+16765C>T (n.1734+16765C>T)
3g.32997291G>CCA432960419GLB1c.1788C>G (p.Gly596=)
c.1395C>G (p.Gly465=)
c.1698C>G (p.Gly566=)
c.1932C>G (p.Gly644=)
c.1734+16765C>G (n.1734+16765C>G)
3g.32997291G>TCA432960420GLB1c.1788C>A (p.Gly596=)
c.1395C>A (p.Gly465=)
c.1698C>A (p.Gly566=)
c.1932C>A (p.Gly644=)
c.1734+16765C>A (n.1734+16765C>A)
 dbSNP
3g.32997292C>ACA352000749GLB1c.1787G>T (p.Gly596Val)
c.1394G>T (p.Gly465Val)
c.1697G>T (p.Gly566Val)
c.1931G>T (p.Gly644Val)
c.1734+16764G>T (n.1734+16764G>T)
3g.32997292C=CA1355976977GLB1c.1787G= (p.Gly596=)
c.1394G= (p.Gly465=)
c.1697G= (p.Gly566=)
c.1931G= (p.Gly644=)
c.1734+16764G= (n.1734+16764G=)
3g.32997292C>GCA352000750GLB1c.1787G>C (p.Gly596Ala)
c.1394G>C (p.Gly465Ala)
c.1697G>C (p.Gly566Ala)
c.1931G>C (p.Gly644Ala)
c.1734+16764G>C (n.1734+16764G>C)
3g.32997292C>TCA352000751GLB1c.1787G>A (p.Gly596Asp)
c.1394G>A (p.Gly465Asp)
c.1697G>A (p.Gly566Asp)
c.1931G>A (p.Gly644Asp)
c.1734+16764G>A (n.1734+16764G>A)
 ClinVar dbSNP
3g.32997295dupCA2514682387GLB1c.1787dup (p.Gln598SerfsTer?)
c.1394dup (p.Gln467SerfsTer?)
c.1697dup (p.Gln568SerfsTer?)
c.1931dup (p.Gln646SerfsTer?)
c.1734+16764dup (n.1734+16764dup)
3g.32997293C>ACA352000752GLB1c.1786G>T (p.Gly596Cys)
c.1393G>T (p.Gly465Cys)
c.1696G>T (p.Gly566Cys)
c.1930G>T (p.Gly644Cys)
c.1734+16763G>T (n.1734+16763G>T)
3g.32997293C>GCA352000753GLB1c.1786G>C (p.Gly596Arg)
c.1393G>C (p.Gly465Arg)
c.1696G>C (p.Gly566Arg)
c.1930G>C (p.Gly644Arg)
c.1734+16763G>C (n.1734+16763G>C)
3g.32997293C>TCA352000754GLB1c.1786G>A (p.Gly596Ser)
c.1393G>A (p.Gly465Ser)
c.1696G>A (p.Gly566Ser)
c.1930G>A (p.Gly644Ser)
c.1734+16763G>A (n.1734+16763G>A)
3g.32997294C>ACA432960421GLB1c.1785G>T (p.Arg595=)
c.1392G>T (p.Arg464=)
c.1695G>T (p.Arg565=)
c.1929G>T (p.Arg643=)
c.1734+16762G>T (n.1734+16762G>T)
3g.32997294C>GCA432960422GLB1c.1785G>C (p.Arg595=)
c.1392G>C (p.Arg464=)
c.1695G>C (p.Arg565=)
c.1929G>C (p.Arg643=)
c.1734+16762G>C (n.1734+16762G>C)
3g.32997294C>TCA432960423GLB1c.1785G>A (p.Arg595=)
c.1392G>A (p.Arg464=)
c.1695G>A (p.Arg565=)
c.1929G>A (p.Arg643=)
c.1734+16762G>A (n.1734+16762G>A)
 ClinVar dbSNP gnomAD v4
3g.32997295C>ACA352000755GLB1c.1784G>T (p.Arg595Leu)
c.1391G>T (p.Arg464Leu)
c.1694G>T (p.Arg565Leu)
c.1928G>T (p.Arg643Leu)
c.1734+16761G>T (n.1734+16761G>T)
 COSMIC COSMIC
3g.32997295C=CA1355976978GLB1c.1784G= (p.Arg595=)
c.1391G= (p.Arg464=)
c.1694G= (p.Arg565=)
c.1928G= (p.Arg643=)
c.1734+16761G= (n.1734+16761G=)
3g.32997295C>GCA352000756GLB1c.1784G>C (p.Arg595Pro)
c.1391G>C (p.Arg464Pro)
c.1694G>C (p.Arg565Pro)
c.1928G>C (p.Arg643Pro)
c.1734+16761G>C (n.1734+16761G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32997295C>TCA2299296GLB1c.1784G>A (p.Arg595Gln)
c.1391G>A (p.Arg464Gln)
c.1694G>A (p.Arg565Gln)
c.1928G>A (p.Arg643Gln)
c.1734+16761G>A (n.1734+16761G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997296G>ACA2299297GLB1c.1783C>T (p.Arg595Trp)
c.1390C>T (p.Arg464Trp)
c.1693C>T (p.Arg565Trp)
c.1927C>T (p.Arg643Trp)
c.1734+16760C>T (n.1734+16760C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997296G>CCA352000757GLB1c.1783C>G (p.Arg595Gly)
c.1390C>G (p.Arg464Gly)
c.1693C>G (p.Arg565Gly)
c.1927C>G (p.Arg643Gly)
c.1734+16760C>G (n.1734+16760C>G)
3g.32997296G=CA1355976979GLB1c.1783C= (p.Arg595=)
c.1390C= (p.Arg464=)
c.1693C= (p.Arg565=)
c.1927C= (p.Arg643=)
c.1734+16760C= (n.1734+16760C=)
3g.32997296G>TCA432960424GLB1c.1783C>A (p.Arg595=)
c.1390C>A (p.Arg464=)
c.1693C>A (p.Arg565=)
c.1927C>A (p.Arg643=)
c.1734+16760C>A (n.1734+16760C>A)
3g.32997297G>ACA432960427GLB1c.1782C>T (p.Ala594=)
c.1389C>T (p.Ala463=)
c.1692C>T (p.Ala564=)
c.1926C>T (p.Ala642=)
c.1734+16759C>T (n.1734+16759C>T)
 gnomAD v4
3g.32997297G>CCA432960426GLB1c.1782C>G (p.Ala594=)
c.1389C>G (p.Ala463=)
c.1692C>G (p.Ala564=)
c.1926C>G (p.Ala642=)
c.1734+16759C>G (n.1734+16759C>G)
3g.32997297G>TCA432960425GLB1c.1782C>A (p.Ala594=)
c.1389C>A (p.Ala463=)
c.1692C>A (p.Ala564=)
c.1926C>A (p.Ala642=)
c.1734+16759C>A (n.1734+16759C>A)
3g.32997298G>ACA352000758GLB1c.1781C>T (p.Ala594Val)
c.1388C>T (p.Ala463Val)
c.1691C>T (p.Ala564Val)
c.1925C>T (p.Ala642Val)
c.1734+16758C>T (n.1734+16758C>T)
3g.32997298G>CCA352000759GLB1c.1781C>G (p.Ala594Gly)
c.1388C>G (p.Ala463Gly)
c.1691C>G (p.Ala564Gly)
c.1925C>G (p.Ala642Gly)
c.1734+16758C>G (n.1734+16758C>G)
 gnomAD v4
3g.32997298G>TCA352000760GLB1c.1781C>A (p.Ala594Asp)
c.1388C>A (p.Ala463Asp)
c.1691C>A (p.Ala564Asp)
c.1925C>A (p.Ala642Asp)
c.1734+16758C>A (n.1734+16758C>A)
3g.32997299C>ACA352000761GLB1c.1780G>T (p.Ala594Ser)
c.1387G>T (p.Ala463Ser)
c.1690G>T (p.Ala564Ser)
c.1924G>T (p.Ala642Ser)
c.1734+16757G>T (n.1734+16757G>T)
3g.32997299C>GCA352000762GLB1c.1780G>C (p.Ala594Pro)
c.1387G>C (p.Ala463Pro)
c.1690G>C (p.Ala564Pro)
c.1924G>C (p.Ala642Pro)
c.1734+16757G>C (n.1734+16757G>C)
3g.32997299C>TCA352000763GLB1c.1780G>A (p.Ala594Thr)
c.1387G>A (p.Ala463Thr)
c.1690G>A (p.Ala564Thr)
c.1924G>A (p.Ala642Thr)
c.1734+16757G>A (n.1734+16757G>A)
 gnomAD v4
3g.32997300T>ACA432960428GLB1c.1779A>T (p.Pro593=)
c.1386A>T (p.Pro462=)
c.1689A>T (p.Pro563=)
c.1923A>T (p.Pro641=)
c.1734+16756A>T (n.1734+16756A>T)
3g.32997300T>CCA432960429GLB1c.1779A>G (p.Pro593=)
c.1386A>G (p.Pro462=)
c.1689A>G (p.Pro563=)
c.1923A>G (p.Pro641=)
c.1734+16756A>G (n.1734+16756A>G)
3g.32997300T>GCA432960430GLB1c.1779A>C (p.Pro593=)
c.1386A>C (p.Pro462=)
c.1689A>C (p.Pro563=)
c.1923A>C (p.Pro641=)
c.1734+16756A>C (n.1734+16756A>C)
3g.32997301G>ACA352000764GLB1c.1778C>T (p.Pro593Leu)
c.1385C>T (p.Pro462Leu)
c.1688C>T (p.Pro563Leu)
c.1922C>T (p.Pro641Leu)
c.1734+16755C>T (n.1734+16755C>T)
 COSMIC
3g.32997301G>CCA352000765GLB1c.1778C>G (p.Pro593Arg)
c.1385C>G (p.Pro462Arg)
c.1688C>G (p.Pro563Arg)
c.1922C>G (p.Pro641Arg)
c.1734+16755C>G (n.1734+16755C>G)
3g.32997301G>TCA352000766GLB1c.1778C>A (p.Pro593Gln)
c.1385C>A (p.Pro462Gln)
c.1688C>A (p.Pro563Gln)
c.1922C>A (p.Pro641Gln)
c.1734+16755C>A (n.1734+16755C>A)
3g.32997302delCA2586971833GLB1c.1778del (p.Pro593GlnfsTer7)
c.1385del (p.Pro462GlnfsTer7)
c.1688del (p.Pro563GlnfsTer7)
c.1922del (p.Pro641GlnfsTer7)
c.1734+16755del (n.1734+16755del)
3g.32997302G>ACA352000767GLB1c.1777C>T (p.Pro593Ser)
c.1384C>T (p.Pro462Ser)
c.1687C>T (p.Pro563Ser)
c.1921C>T (p.Pro641Ser)
c.1734+16754C>T (n.1734+16754C>T)
 dbSNP
3g.32997302G>CCA352000769GLB1c.1777C>G (p.Pro593Ala)
c.1384C>G (p.Pro462Ala)
c.1687C>G (p.Pro563Ala)
c.1921C>G (p.Pro641Ala)
c.1734+16754C>G (n.1734+16754C>G)
3g.32997302G>TCA352000768GLB1c.1777C>A (p.Pro593Thr)
c.1384C>A (p.Pro462Thr)
c.1687C>A (p.Pro563Thr)
c.1921C>A (p.Pro641Thr)
c.1734+16754C>A (n.1734+16754C>A)
3g.32997303C>ACA352000770GLB1c.1776G>T (p.Trp592Cys)
c.1383G>T (p.Trp461Cys)
c.1686G>T (p.Trp562Cys)
c.1920G>T (p.Trp640Cys)
c.1734+16753G>T (n.1734+16753G>T)
3g.32997303C>GCA352000771GLB1c.1776G>C (p.Trp592Cys)
c.1383G>C (p.Trp461Cys)
c.1686G>C (p.Trp562Cys)
c.1920G>C (p.Trp640Cys)
c.1734+16753G>C (n.1734+16753G>C)
3g.32997303C>TCA352000772GLB1c.1776G>A (p.Trp592Ter)
c.1383G>A (p.Trp461Ter)
c.1686G>A (p.Trp562Ter)
c.1920G>A (p.Trp640Ter)
c.1734+16753G>A (n.1734+16753G>A)
3g.32997304C>ACA352000773GLB1c.1775G>T (p.Trp592Leu)
c.1382G>T (p.Trp461Leu)
c.1685G>T (p.Trp562Leu)
c.1919G>T (p.Trp640Leu)
c.1734+16752G>T (n.1734+16752G>T)
3g.32997304C=CA1355976980GLB1c.1775G= (p.Trp592=)
c.1382G= (p.Trp461=)
c.1685G= (p.Trp562=)
c.1919G= (p.Trp640=)
c.1734+16752G= (n.1734+16752G=)
3g.32997304C>GCA352000774GLB1c.1775G>C (p.Trp592Ser)
c.1382G>C (p.Trp461Ser)
c.1685G>C (p.Trp562Ser)
c.1919G>C (p.Trp640Ser)
c.1734+16752G>C (n.1734+16752G>C)
3g.32997304C>TCA352000775GLB1c.1775G>A (p.Trp592Ter)
c.1382G>A (p.Trp461Ter)
c.1685G>A (p.Trp562Ter)
c.1919G>A (p.Trp640Ter)
c.1734+16752G>A (n.1734+16752G>A)
 dbSNP gnomAD v4
3g.32997305A>CCA352000776GLB1c.1774T>G (p.Trp592Gly)
c.1381T>G (p.Trp461Gly)
c.1684T>G (p.Trp562Gly)
c.1918T>G (p.Trp640Gly)
c.1734+16751T>G (n.1734+16751T>G)
3g.32997305A>GCA352000777GLB1c.1774T>C (p.Trp592Arg)
c.1381T>C (p.Trp461Arg)
c.1684T>C (p.Trp562Arg)
c.1918T>C (p.Trp640Arg)
c.1734+16751T>C (n.1734+16751T>C)
3g.32997305A>TCA352000778GLB1c.1774T>A (p.Trp592Arg)
c.1381T>A (p.Trp461Arg)
c.1684T>A (p.Trp562Arg)
c.1918T>A (p.Trp640Arg)
c.1734+16751T>A (n.1734+16751T>A)
3g.32997306A>CCA352000779GLB1c.1773T>G (p.Tyr591Ter)
c.1380T>G (p.Tyr460Ter)
c.1683T>G (p.Tyr561Ter)
c.1917T>G (p.Tyr639Ter)
c.1734+16750T>G (n.1734+16750T>G)
3g.32997306A>GCA432960431GLB1c.1773T>C (p.Tyr591=)
c.1380T>C (p.Tyr460=)
c.1683T>C (p.Tyr561=)
c.1917T>C (p.Tyr639=)
c.1734+16750T>C (n.1734+16750T>C)
 gnomAD v4
3g.32997306A>TCA352000780GLB1c.1773T>A (p.Tyr591Ter)
c.1380T>A (p.Tyr460Ter)
c.1683T>A (p.Tyr561Ter)
c.1917T>A (p.Tyr639Ter)
c.1734+16750T>A (n.1734+16750T>A)
3g.32997307T>ACA352000781GLB1c.1772A>T (p.Tyr591Phe)
c.1379A>T (p.Tyr460Phe)
c.1682A>T (p.Tyr561Phe)
c.1916A>T (p.Tyr639Phe)
c.1734+16749A>T (n.1734+16749A>T)
3g.32997307T>CCA114671GLB1c.1772A>G (p.Tyr591Cys)
c.1379A>G (p.Tyr460Cys)
c.1682A>G (p.Tyr561Cys)
c.1916A>G (p.Tyr639Cys)
c.1734+16749A>G (n.1734+16749A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.32997307T>GCA72667244GLB1c.1772A>C (p.Tyr591Ser)
c.1379A>C (p.Tyr460Ser)
c.1682A>C (p.Tyr561Ser)
c.1916A>C (p.Tyr639Ser)
c.1734+16749A>C (n.1734+16749A>C)
 ClinVar dbSNP
3g.32997307T=CA1355976981GLB1c.1772A= (p.Tyr591=)
c.1379A= (p.Tyr460=)
c.1682A= (p.Tyr561=)
c.1916A= (p.Tyr639=)
c.1734+16749A= (n.1734+16749A=)
3g.32997308A=CA1355976982GLB1c.1771T= (p.Tyr591=)
c.1378T= (p.Tyr460=)
c.1681T= (p.Tyr561=)
c.1915T= (p.Tyr639=)
c.1734+16748T= (n.1734+16748T=)
3g.32997308A>CCA352000782GLB1c.1771T>G (p.Tyr591Asp)
c.1378T>G (p.Tyr460Asp)
c.1681T>G (p.Tyr561Asp)
c.1915T>G (p.Tyr639Asp)
c.1734+16748T>G (n.1734+16748T>G)
3g.32997308A>GCA2299298GLB1c.1771T>C (p.Tyr591His)
c.1378T>C (p.Tyr460His)
c.1681T>C (p.Tyr561His)
c.1915T>C (p.Tyr639His)
c.1734+16748T>C (n.1734+16748T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997308A>TCA114669GLB1c.1771T>A (p.Tyr591Asn)
c.1378T>A (p.Tyr460Asn)
c.1681T>A (p.Tyr561Asn)
c.1915T>A (p.Tyr639Asn)
c.1734+16748T>A (n.1734+16748T>A)
 ClinVar dbSNP
3g.32997309G>ACA432960432GLB1c.1770C>T (p.Arg590=)
c.1377C>T (p.Arg459=)
c.1680C>T (p.Arg560=)
c.1914C>T (p.Arg638=)
c.1734+16747C>T (n.1734+16747C>T)
3g.32997309G>CCA432960433GLB1c.1770C>G (p.Arg590=)
c.1377C>G (p.Arg459=)
c.1680C>G (p.Arg560=)
c.1914C>G (p.Arg638=)
c.1734+16747C>G (n.1734+16747C>G)
3g.32997309G>TCA432960434GLB1c.1770C>A (p.Arg590=)
c.1377C>A (p.Arg459=)
c.1680C>A (p.Arg560=)
c.1914C>A (p.Arg638=)
c.1734+16747C>A (n.1734+16747C>A)
3g.32997310delCA2664926661GLB1c.1769del (p.Arg590ProfsTer10)
c.1376del (p.Arg459ProfsTer10)
c.1679del (p.Arg560ProfsTer10)
c.1913del (p.Arg638ProfsTer10)
c.1734+16746del (n.1734+16746del)
 gnomAD v4
3g.32997310C>ACA352000783GLB1c.1769G>T (p.Arg590Leu)
c.1376G>T (p.Arg459Leu)
c.1679G>T (p.Arg560Leu)
c.1913G>T (p.Arg638Leu)
c.1734+16746G>T (n.1734+16746G>T)
3g.32997310C=CA1355976983GLB1c.1769G= (p.Arg590=)
c.1376G= (p.Arg459=)
c.1679G= (p.Arg560=)
c.1913G= (p.Arg638=)
c.1734+16746G= (n.1734+16746G=)
3g.32997310C>GCA352000784GLB1c.1769G>C (p.Arg590Pro)
c.1376G>C (p.Arg459Pro)
c.1679G>C (p.Arg560Pro)
c.1913G>C (p.Arg638Pro)
c.1734+16746G>C (n.1734+16746G>C)
3g.32997310C>TCA201251GLB1c.1769G>A (p.Arg590His)
c.1376G>A (p.Arg459His)
c.1679G>A (p.Arg560His)
c.1913G>A (p.Arg638His)
c.1734+16746G>A (n.1734+16746G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997311G>ACA201253GLB1c.1768C>T (p.Arg590Cys)
c.1375C>T (p.Arg459Cys)
c.1678C>T (p.Arg560Cys)
c.1912C>T (p.Arg638Cys)
c.1734+16745C>T (n.1734+16745C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32997311G>CCA352000785GLB1c.1768C>G (p.Arg590Gly)
c.1375C>G (p.Arg459Gly)
c.1678C>G (p.Arg560Gly)
c.1912C>G (p.Arg638Gly)
c.1734+16745C>G (n.1734+16745C>G)
 ClinVar
3g.32997311G=CA1355976984GLB1c.1768C= (p.Arg590=)
c.1375C= (p.Arg459=)
c.1678C= (p.Arg560=)
c.1912C= (p.Arg638=)
c.1734+16745C= (n.1734+16745C=)
3g.32997311G>TCA352000786GLB1c.1768C>A (p.Arg590Ser)
c.1375C>A (p.Arg459Ser)
c.1678C>A (p.Arg560Ser)
c.1912C>A (p.Arg638Ser)
c.1734+16745C>A (n.1734+16745C>A)
 ClinVar dbSNP gnomAD v4
3g.32997312G>ACA2299299GLB1c.1767C>T (p.Gly589=)
c.1374C>T (p.Gly458=)
c.1677C>T (p.Gly559=)
c.1911C>T (p.Gly637=)
c.1734+16744C>T (n.1734+16744C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32997312G>CCA432960436GLB1c.1767C>G (p.Gly589=)
c.1374C>G (p.Gly458=)
c.1677C>G (p.Gly559=)
c.1911C>G (p.Gly637=)
c.1734+16744C>G (n.1734+16744C>G)
3g.32997312G=CA1355976985GLB1c.1767C= (p.Gly589=)
c.1374C= (p.Gly458=)
c.1677C= (p.Gly559=)
c.1911C= (p.Gly637=)
c.1734+16744C= (n.1734+16744C=)
3g.32997312G>TCA432960435GLB1c.1767C>A (p.Gly589=)
c.1374C>A (p.Gly458=)
c.1677C>A (p.Gly559=)
c.1911C>A (p.Gly637=)
c.1734+16744C>A (n.1734+16744C>A)
3g.32997313C>ACA352000787GLB1c.1766G>T (p.Gly589Val)
c.1373G>T (p.Gly458Val)
c.1676G>T (p.Gly559Val)
c.1910G>T (p.Gly637Val)
c.1734+16743G>T (n.1734+16743G>T)
3g.32997313C=CA1355976986GLB1c.1766G= (p.Gly589=)
c.1373G= (p.Gly458=)
c.1676G= (p.Gly559=)
c.1910G= (p.Gly637=)
c.1734+16743G= (n.1734+16743G=)
3g.32997313C>GCA72667259GLB1c.1766G>C (p.Gly589Ala)
c.1373G>C (p.Gly458Ala)
c.1676G>C (p.Gly559Ala)
c.1910G>C (p.Gly637Ala)
c.1734+16743G>C (n.1734+16743G>C)
 dbSNP
3g.32997313C>TCA352000788GLB1c.1766G>A (p.Gly589Asp)
c.1373G>A (p.Gly458Asp)
c.1676G>A (p.Gly559Asp)
c.1910G>A (p.Gly637Asp)
c.1734+16743G>A (n.1734+16743G>A)
 gnomAD v4
3g.32997314C>ACA352000790GLB1c.1765G>T (p.Gly589Cys)
c.1372G>T (p.Gly458Cys)
c.1675G>T (p.Gly559Cys)
c.1909G>T (p.Gly637Cys)
c.1734+16742G>T (n.1734+16742G>T)
3g.32997314C>GCA352000791GLB1c.1765G>C (p.Gly589Arg)
c.1372G>C (p.Gly458Arg)
c.1675G>C (p.Gly559Arg)
c.1909G>C (p.Gly637Arg)
c.1734+16742G>C (n.1734+16742G>C)
3g.32997314C>TCA352000789GLB1c.1765G>A (p.Gly589Ser)
c.1372G>A (p.Gly458Ser)
c.1675G>A (p.Gly559Ser)
c.1909G>A (p.Gly637Ser)
c.1734+16742G>A (n.1734+16742G>A)
3g.32997315A>CCA432960437GLB1c.1764T>G (p.Leu588=)
c.1371T>G (p.Leu457=)
c.1674T>G (p.Leu558=)
c.1908T>G (p.Leu636=)
c.1734+16741T>G (n.1734+16741T>G)
 gnomAD v4
3g.32997315A>GCA432960438GLB1c.1764T>C (p.Leu588=)
c.1371T>C (p.Leu457=)
c.1674T>C (p.Leu558=)
c.1908T>C (p.Leu636=)
c.1734+16741T>C (n.1734+16741T>C)
 ClinVar dbSNP
3g.32997315A>TCA432960439GLB1c.1764T>A (p.Leu588=)
c.1371T>A (p.Leu457=)
c.1674T>A (p.Leu558=)
c.1908T>A (p.Leu636=)
c.1734+16741T>A (n.1734+16741T>A)
3g.32997316A>CCA352000794GLB1c.1763T>G (p.Leu588Arg)
c.1370T>G (p.Leu457Arg)
c.1673T>G (p.Leu558Arg)
c.1907T>G (p.Leu636Arg)
c.1734+16740T>G (n.1734+16740T>G)
 dbSNP
3g.32997316A>GCA352000792GLB1c.1763T>C (p.Leu588Pro)
c.1370T>C (p.Leu457Pro)
c.1673T>C (p.Leu558Pro)
c.1907T>C (p.Leu636Pro)
c.1734+16740T>C (n.1734+16740T>C)
3g.32997316A>TCA352000793GLB1c.1763T>A (p.Leu588His)
c.1370T>A (p.Leu457His)
c.1673T>A (p.Leu558His)
c.1907T>A (p.Leu636His)
c.1734+16740T>A (n.1734+16740T>A)
3g.32997317G>ACA352000795GLB1c.1762C>T (p.Leu588Phe)
c.1369C>T (p.Leu457Phe)
c.1672C>T (p.Leu558Phe)
c.1906C>T (p.Leu636Phe)
c.1734+16739C>T (n.1734+16739C>T)
3g.32997317G>CCA352000796GLB1c.1762C>G (p.Leu588Val)
c.1369C>G (p.Leu457Val)
c.1672C>G (p.Leu558Val)
c.1906C>G (p.Leu636Val)
c.1734+16739C>G (n.1734+16739C>G)
 dbSNP gnomAD v4
3g.32997317G=CA1355976987GLB1c.1762C= (p.Leu588=)
c.1369C= (p.Leu457=)
c.1672C= (p.Leu558=)
c.1906C= (p.Leu636=)
c.1734+16739C= (n.1734+16739C=)
3g.32997317G>TCA352000797GLB1c.1762C>A (p.Leu588Ile)
c.1369C>A (p.Leu457Ile)
c.1672C>A (p.Leu558Ile)
c.1906C>A (p.Leu636Ile)
c.1734+16739C>A (n.1734+16739C>A)
 COSMIC COSMIC
3g.32997318G>ACA432960440GLB1c.1761C>T (p.Asn587=)
c.1368C>T (p.Asn456=)
c.1671C>T (p.Asn557=)
c.1905C>T (p.Asn635=)
c.1734+16738C>T (n.1734+16738C>T)
 ClinVar
3g.32997318G>CCA352000798GLB1c.1761C>G (p.Asn587Lys)
c.1368C>G (p.Asn456Lys)
c.1671C>G (p.Asn557Lys)
c.1905C>G (p.Asn635Lys)
c.1734+16738C>G (n.1734+16738C>G)
3g.32997318G>TCA352000799GLB1c.1761C>A (p.Asn587Lys)
c.1368C>A (p.Asn456Lys)
c.1671C>A (p.Asn557Lys)
c.1905C>A (p.Asn635Lys)
c.1734+16738C>A (n.1734+16738C>A)
3g.32997319T>ACA352000802GLB1c.1760A>T (p.Asn587Ile)
c.1367A>T (p.Asn456Ile)
c.1670A>T (p.Asn557Ile)
c.1904A>T (p.Asn635Ile)
c.1734+16737A>T (n.1734+16737A>T)
3g.32997319T>CCA352000800GLB1c.1760A>G (p.Asn587Ser)
c.1367A>G (p.Asn456Ser)
c.1670A>G (p.Asn557Ser)
c.1904A>G (p.Asn635Ser)
c.1734+16737A>G (n.1734+16737A>G)
3g.32997319T>GCA352000801GLB1c.1760A>C (p.Asn587Thr)
c.1367A>C (p.Asn456Thr)
c.1670A>C (p.Asn557Thr)
c.1904A>C (p.Asn635Thr)
c.1734+16737A>C (n.1734+16737A>C)
3g.32997320T>ACA352000803GLB1c.1759A>T (p.Asn587Tyr)
c.1366A>T (p.Asn456Tyr)
c.1669A>T (p.Asn557Tyr)
c.1903A>T (p.Asn635Tyr)
c.1734+16736A>T (n.1734+16736A>T)
3g.32997320T>CCA352000804GLB1c.1759A>G (p.Asn587Asp)
c.1366A>G (p.Asn456Asp)
c.1669A>G (p.Asn557Asp)
c.1903A>G (p.Asn635Asp)
c.1734+16736A>G (n.1734+16736A>G)
3g.32997320T>GCA352000805GLB1c.1759A>C (p.Asn587His)
c.1366A>C (p.Asn456His)
c.1669A>C (p.Asn557His)
c.1903A>C (p.Asn635His)
c.1734+16736A>C (n.1734+16736A>C)
 dbSNP gnomAD v3 gnomAD v4
3g.32997320T=CA1355976988GLB1c.1759A= (p.Asn587=)
c.1366A= (p.Asn456=)
c.1669A= (p.Asn557=)
c.1903A= (p.Asn635=)
c.1734+16736A= (n.1734+16736A=)
3g.32997321A>CCA352000806GLB1c.1758T>G (p.Phe586Leu)
c.1365T>G (p.Phe455Leu)
c.1668T>G (p.Phe556Leu)
c.1902T>G (p.Phe634Leu)
c.1734+16735T>G (n.1734+16735T>G)
3g.32997321A>GCA432960441GLB1c.1758T>C (p.Phe586=)
c.1365T>C (p.Phe455=)
c.1668T>C (p.Phe556=)
c.1902T>C (p.Phe634=)
c.1734+16735T>C (n.1734+16735T>C)
3g.32997321A>TCA352000807GLB1c.1758T>A (p.Phe586Leu)
c.1365T>A (p.Phe455Leu)
c.1668T>A (p.Phe556Leu)
c.1902T>A (p.Phe634Leu)
c.1734+16735T>A (n.1734+16735T>A)
3g.32997322A>CCA352000808GLB1c.1757T>G (p.Phe586Cys)
c.1364T>G (p.Phe455Cys)
c.1667T>G (p.Phe556Cys)
c.1901T>G (p.Phe634Cys)
c.1734+16734T>G (n.1734+16734T>G)
3g.32997322A>GCA352000810GLB1c.1757T>C (p.Phe586Ser)
c.1364T>C (p.Phe455Ser)
c.1667T>C (p.Phe556Ser)
c.1901T>C (p.Phe634Ser)
c.1734+16734T>C (n.1734+16734T>C)
3g.32997322A>TCA352000809GLB1c.1757T>A (p.Phe586Tyr)
c.1364T>A (p.Phe455Tyr)
c.1667T>A (p.Phe556Tyr)
c.1901T>A (p.Phe634Tyr)
c.1734+16734T>A (n.1734+16734T>A)
3g.32997323A>CCA352000811GLB1c.1756T>G (p.Phe586Val)
c.1363T>G (p.Phe455Val)
c.1666T>G (p.Phe556Val)
c.1900T>G (p.Phe634Val)
c.1734+16733T>G (n.1734+16733T>G)
3g.32997323A>GCA352000812GLB1c.1756T>C (p.Phe586Leu)
c.1363T>C (p.Phe455Leu)
c.1666T>C (p.Phe556Leu)
c.1900T>C (p.Phe634Leu)
c.1734+16733T>C (n.1734+16733T>C)
3g.32997323A>TCA352000813GLB1c.1756T>A (p.Phe586Ile)
c.1363T>A (p.Phe455Ile)
c.1666T>A (p.Phe556Ile)
c.1900T>A (p.Phe634Ile)
c.1734+16733T>A (n.1734+16733T>A)
3g.32997324G>ACA432960442GLB1c.1755C>T (p.Gly585=)
c.1362C>T (p.Gly454=)
c.1665C>T (p.Gly555=)
c.1899C>T (p.Gly633=)
c.1734+16732C>T (n.1734+16732C>T)
3g.32997324G>CCA432960443GLB1c.1755C>G (p.Gly585=)
c.1362C>G (p.Gly454=)
c.1665C>G (p.Gly555=)
c.1899C>G (p.Gly633=)
c.1734+16732C>G (n.1734+16732C>G)
3g.32997324G>TCA432960444GLB1c.1755C>A (p.Gly585=)
c.1362C>A (p.Gly454=)
c.1665C>A (p.Gly555=)
c.1899C>A (p.Gly633=)
c.1734+16732C>A (n.1734+16732C>A)
3g.32997325C>ACA352000814GLB1c.1754G>T (p.Gly585Val)
c.1361G>T (p.Gly454Val)
c.1664G>T (p.Gly555Val)
c.1898G>T (p.Gly633Val)
c.1734+16731G>T (n.1734+16731G>T)
 dbSNP gnomAD v4
3g.32997325C=CA1355976989GLB1c.1754G= (p.Gly585=)
c.1361G= (p.Gly454=)
c.1664G= (p.Gly555=)
c.1898G= (p.Gly633=)
c.1734+16731G= (n.1734+16731G=)
3g.32997325C>GCA352000815GLB1c.1754G>C (p.Gly585Ala)
c.1361G>C (p.Gly454Ala)
c.1664G>C (p.Gly555Ala)
c.1898G>C (p.Gly633Ala)
c.1734+16731G>C (n.1734+16731G>C)
3g.32997325C>TCA352000816GLB1c.1754G>A (p.Gly585Asp)
c.1361G>A (p.Gly454Asp)
c.1664G>A (p.Gly555Asp)
c.1898G>A (p.Gly633Asp)
c.1734+16731G>A (n.1734+16731G>A)

Number of alleles fetched