Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.32997227C>A | CA352000549 | GLB1 | c.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) | |
3 | g.32997227C= | CA1355976948 | GLB1 | c.1852G= (p.Val618=) c.1459G= (p.Val487=) c.1762G= (p.Val588=) c.1996G= (p.Val666=) c.1734+16829G= (n.1734+16829G=) | |
3 | g.32997227C>G | CA352000551 | GLB1 | c.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) | |
3 | g.32997227C>T | CA352000553 | GLB1 | c.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 |
3 | g.32997228G>A | CA432960320 | GLB1 | c.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 |
3 | g.32997228G>C | CA432960323 | GLB1 | c.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 |
3 | g.32997228G= | CA1355976949 | GLB1 | c.1851C= (p.Thr617=) c.1458C= (p.Thr486=) c.1761C= (p.Thr587=) c.1995C= (p.Thr665=) c.1734+16828C= (n.1734+16828C=) | |
3 | g.32997228G>T | CA432960322 | GLB1 | c.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) | |
3 | g.32997229G>A | CA352000555 | GLB1 | c.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) | |
3 | g.32997229G>C | CA352000557 | GLB1 | c.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 |
3 | g.32997229G= | CA1355976950 | GLB1 | c.1850C= (p.Thr617=) c.1457C= (p.Thr486=) c.1760C= (p.Thr587=) c.1994C= (p.Thr665=) c.1734+16827C= (n.1734+16827C=) | |
3 | g.32997229G>T | CA352000559 | GLB1 | c.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) | |
3 | g.32997230T>A | CA352000561 | GLB1 | c.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) | |
3 | g.32997230T>C | CA352000562 | GLB1 | c.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 |
3 | g.32997230T>G | CA352000564 | GLB1 | c.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) | |
3 | g.32997231G>A | CA432960325 | GLB1 | c.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 |
3 | g.32997231G>C | CA352000566 | GLB1 | c.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) | |
3 | g.32997231G= | CA1355976951 | GLB1 | c.1848C= (p.Ile616=) c.1455C= (p.Ile485=) c.1758C= (p.Ile586=) c.1992C= (p.Ile664=) c.1734+16825C= (n.1734+16825C=) | |
3 | g.32997231G>T | CA432960326 | GLB1 | c.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) | |
3 | g.32997232A>C | CA352000567 | GLB1 | c.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) | |
3 | g.32997232A>G | CA352000569 | GLB1 | c.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) | |
3 | g.32997232A>T | CA352000570 | GLB1 | c.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) | |
3 | g.32997233T>A | CA352000572 | GLB1 | c.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) | |
3 | g.32997233T>C | CA352000574 | GLB1 | c.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 |
3 | g.32997233T>G | CA352000571 | GLB1 | c.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) | |
3 | g.32997233T= | CA1355976952 | GLB1 | c.1846A= (p.Ile616=) c.1453A= (p.Ile485=) c.1756A= (p.Ile586=) c.1990A= (p.Ile664=) c.1734+16823A= (n.1734+16823A=) | |
3 | g.32997234G>A | CA432960329 | GLB1 | c.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) | |
3 | g.32997234G>C | CA432960331 | GLB1 | c.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) | |
3 | g.32997234G>T | CA432960333 | GLB1 | c.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) | |
3 | g.32997235G>A | CA352000576 | GLB1 | c.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 |
3 | g.32997235G>C | CA352000578 | GLB1 | c.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 |
3 | g.32997235G= | CA1355976953 | GLB1 | c.1844C= (p.Thr615=) c.1451C= (p.Thr484=) c.1754C= (p.Thr585=) c.1988C= (p.Thr663=) c.1734+16821C= (n.1734+16821C=) | |
3 | g.32997235G>T | CA2299285 | GLB1 | c.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) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.32997236T>A | CA352000581 | GLB1 | c.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) | |
3 | g.32997236T>C | CA352000582 | GLB1 | c.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 |
3 | g.32997236T>G | CA352000584 | GLB1 | c.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) | |
3 | g.32997236T= | CA1355976954 | GLB1 | c.1843A= (p.Thr615=) c.1450A= (p.Thr484=) c.1753A= (p.Thr585=) c.1987A= (p.Thr663=) c.1734+16820A= (n.1734+16820A=) | |
3 | g.32997237G>A | CA432960336 | GLB1 | c.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 |
3 | g.32997237G>C | CA352000588 | GLB1 | c.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) | |
3 | g.32997237G>T | CA352000586 | GLB1 | c.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) | |
3 | g.32997238T>A | CA352000591 | GLB1 | c.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) | |
3 | g.32997238T>C | CA352000592 | GLB1 | c.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) | |
3 | g.32997238T>G | CA352000594 | GLB1 | c.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) | |
3 | g.32997240dup | CA2586971831 | GLB1 | c.1841dup (p.Asn614LysfsTer16) c.1448dup (p.Asn483LysfsTer16) c.1751dup (p.Asn584LysfsTer16) c.1985dup (p.Asn662LysfsTer16) c.1734+16818dup (n.1734+16818dup) | |
3 | g.32997239T>A | CA352000596 | GLB1 | c.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) | |
3 | g.32997239T>C | CA352000598 | GLB1 | c.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 |
3 | g.32997239T>G | CA352000600 | GLB1 | c.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) | |
3 | g.32997239T= | CA1355976955 | GLB1 | c.1840A= (p.Asn614=) c.1447A= (p.Asn483=) c.1750A= (p.Asn584=) c.1984A= (p.Asn662=) c.1734+16817A= (n.1734+16817A=) | |
3 | g.32997240T>A | CA432960340 | GLB1 | c.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 |
3 | g.32997240T>C | CA432960342 | GLB1 | c.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) | |
3 | g.32997240T>G | CA432960343 | GLB1 | c.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) | |
3 | g.32997240_32997242delinsTGG | CA1355976956 | GLB1 | c.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) | |
3 | g.32997241G>A | CA352000605 | GLB1 | c.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) | |
3 | g.32997241G>C | CA352000602 | GLB1 | c.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) | |
3 | g.32997241G>T | CA352000604 | GLB1 | c.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) | |
3 | g.32997244del | CA2664926660 | GLB1 | c.1838del (p.Pro613GlnfsTer24) c.1445del (p.Pro482GlnfsTer24) c.1748del (p.Pro583GlnfsTer24) c.1982del (p.Pro661GlnfsTer24) c.1734+16815del (n.1734+16815del) | gnomAD v4 |
3 | g.32997243_32997244del | CA1139657921 | GLB1 | c.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 |
3 | g.32997242G>A | CA352000606 | GLB1 | c.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 |
3 | g.32997242G>C | CA352000608 | GLB1 | c.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 |
3 | g.32997242G>T | CA352000610 | GLB1 | c.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) | |
3 | g.32997243G>A | CA432960347 | GLB1 | c.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) | |
3 | g.32997243G>C | CA432960348 | GLB1 | c.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) | |
3 | g.32997243G>T | CA432960349 | GLB1 | c.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) | |
3 | g.32997244G>A | CA352000612 | GLB1 | c.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 |
3 | g.32997244G>C | CA352000614 | GLB1 | c.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) | |
3 | g.32997244G= | CA1355976957 | GLB1 | c.1835C= (p.Ala612=) c.1442C= (p.Ala481=) c.1745C= (p.Ala582=) c.1979C= (p.Ala660=) c.1734+16812C= (n.1734+16812C=) | |
3 | g.32997244G>T | CA352000616 | GLB1 | c.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) | |
3 | g.32997245C>A | CA352000618 | GLB1 | c.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) | |
3 | g.32997245C>G | CA352000620 | GLB1 | c.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) | |
3 | g.32997245C>T | CA352000621 | GLB1 | c.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) | |
3 | g.32997246C>A | CA432960351 | GLB1 | c.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) | |
3 | g.32997246C= | CA1355976958 | GLB1 | c.1833G= (p.Ser611=) c.1440G= (p.Ser480=) c.1743G= (p.Ser581=) c.1977G= (p.Ser659=) c.1734+16810G= (n.1734+16810G=) | |
3 | g.32997246C>G | CA432960352 | GLB1 | c.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 |
3 | g.32997246C>T | CA2299286 | GLB1 | c.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 |
3 | g.32997247G>A | CA352000625 | GLB1 | c.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 |
3 | g.32997247G>C | CA352000627 | GLB1 | c.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) | |
3 | g.32997247G>T | CA352000628 | GLB1 | c.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) | |
3 | g.32997248A= | CA1355976959 | GLB1 | c.1831T= (p.Ser611=) c.1438T= (p.Ser480=) c.1741T= (p.Ser581=) c.1975T= (p.Ser659=) c.1734+16808T= (n.1734+16808T=) | |
3 | g.32997248A>C | CA352000630 | GLB1 | c.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 |
3 | g.32997248A>G | CA352000633 | GLB1 | c.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) | |
3 | g.32997248A>T | CA352000631 | GLB1 | c.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) | |
3 | g.32997249G>A | CA2299288 | GLB1 | c.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 |
3 | g.32997249G>C | CA2299287 | GLB1 | c.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 |
3 | g.32997249G= | CA1355976960 | GLB1 | c.1830C= (p.Thr610=) c.1437C= (p.Thr479=) c.1740C= (p.Thr580=) c.1974C= (p.Thr658=) c.1734+16807C= (n.1734+16807C=) | |
3 | g.32997249G>T | CA432960355 | GLB1 | c.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) | |
3 | g.32997250G>A | CA352000638 | GLB1 | c.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 |
3 | g.32997250G>C | CA352000640 | GLB1 | c.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) | |
3 | g.32997250G= | CA1355976961 | GLB1 | c.1829C= (p.Thr610=) c.1436C= (p.Thr479=) c.1739C= (p.Thr580=) c.1973C= (p.Thr658=) c.1734+16806C= (n.1734+16806C=) | |
3 | g.32997250G>T | CA2299289 | GLB1 | c.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 |
3 | g.32997251T>A | CA352000644 | GLB1 | c.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) | |
3 | g.32997251T>C | CA352000645 | GLB1 | c.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) | |
3 | g.32997251T>G | CA352000646 | GLB1 | c.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) | |
3 | g.32997251T= | CA1355976962 | GLB1 | c.1828A= (p.Thr610=) c.1435A= (p.Thr479=) c.1738A= (p.Thr580=) c.1972A= (p.Thr658=) c.1734+16805A= (n.1734+16805A=) | |
3 | g.32997251_32997254del | CA2586971832 | GLB1 | c.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) | |
3 | g.32997252C>A | CA352000650 | GLB1 | c.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) | |
3 | g.32997252C>G | CA352000652 | GLB1 | c.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) | |
3 | g.32997252C>T | CA352000654 | GLB1 | c.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 |
3 | g.32997252dup | CA2299290 | GLB1 | c.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 |
3 | g.32997253A>C | CA352000659 | GLB1 | c.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) | |
3 | g.32997253A>G | CA352000658 | GLB1 | c.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) | |
3 | g.32997253A>T | CA352000656 | GLB1 | c.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) | |
3 | g.32997254T>A | CA352000662 | GLB1 | c.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) | |
3 | g.32997254T>C | CA352000664 | GLB1 | c.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 |
3 | g.32997254T>G | CA352000665 | GLB1 | c.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) | |
3 | g.32997255C>A | CA432960383 | GLB1 | c.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) | |
3 | g.32997255C= | CA1355976963 | GLB1 | c.1824G= (p.Leu608=) c.1431G= (p.Leu477=) c.1734G= (p.Leu578=) c.1968G= (p.Leu656=) c.1734+16801G= (n.1734+16801G=) | |
3 | g.32997255C>G | CA146075 | GLB1 | c.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 |
3 | g.32997255C>T | CA432960384 | GLB1 | c.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) | |
3 | g.32997256A>C | CA352000668 | GLB1 | c.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) | |
3 | g.32997256A>G | CA352000669 | GLB1 | c.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) | |
3 | g.32997256A>T | CA352000671 | GLB1 | c.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) | |
3 | g.32997257G>A | CA432960385 | GLB1 | c.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) | |
3 | g.32997257G>C | CA352000673 | GLB1 | c.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) | |
3 | g.32997257G>T | CA352000675 | GLB1 | c.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) | |
3 | g.32997258G>A | CA432960386 | GLB1 | c.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) | |
3 | g.32997258G>C | CA72667219 | GLB1 | c.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 |
3 | g.32997258G= | CA1355976964 | GLB1 | c.1821C= (p.Ile607=) c.1428C= (p.Ile476=) c.1731C= (p.Ile577=) c.1965C= (p.Ile655=) c.1734+16798C= (n.1734+16798C=) | |
3 | g.32997258G>T | CA432960388 | GLB1 | c.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 |
3 | g.32997259A>C | CA352000676 | GLB1 | c.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) | |
3 | g.32997259A>G | CA352000677 | GLB1 | c.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) | |
3 | g.32997259A>T | CA352000678 | GLB1 | c.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) | |
3 | g.32997260T>A | CA352000680 | GLB1 | c.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) | |
3 | g.32997260T>C | CA352000681 | GLB1 | c.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) | |
3 | g.32997260T>G | CA352000679 | GLB1 | c.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) | |
3 | g.32997261G>A | CA432960391 | GLB1 | c.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 |
3 | g.32997261G>C | CA352000683 | GLB1 | c.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) | |
3 | g.32997261G= | CA1355976965 | GLB1 | c.1818C= (p.His606=) c.1425C= (p.His475=) c.1728C= (p.His576=) c.1962C= (p.His654=) c.1734+16795C= (n.1734+16795C=) | |
3 | g.32997261G>T | CA352000682 | GLB1 | c.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) | |
3 | g.32997262T>A | CA352000686 | GLB1 | c.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) | |
3 | g.32997262T>C | CA352000684 | GLB1 | c.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) | |
3 | g.32997262T>G | CA352000685 | GLB1 | c.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 |
3 | g.32997263G>A | CA352000687 | GLB1 | c.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) | |
3 | g.32997263G>C | CA352000688 | GLB1 | c.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) | |
3 | g.32997263G>T | CA352000689 | GLB1 | c.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) | |
3 | g.32997264C>A | CA352000690 | GLB1 | c.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) | |
3 | g.32997264C= | CA1355976966 | GLB1 | c.1815G= (p.Gln605=) c.1422G= (p.Gln474=) c.1725G= (p.Gln575=) c.1959G= (p.Gln653=) c.1734+16792G= (n.1734+16792G=) | |
3 | g.32997264C>G | CA352000691 | GLB1 | c.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 |
3 | g.32997264C>T | CA2299291 | GLB1 | c.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 |
3 | g.32997265T>A | CA2299292 | GLB1 | c.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 |
3 | g.32997265T>C | CA352000693 | GLB1 | c.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 |
3 | g.32997265T>G | CA352000692 | GLB1 | c.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) | |
3 | g.32997265T= | CA1355976967 | GLB1 | c.1814A= (p.Gln605=) c.1421A= (p.Gln474=) c.1724A= (p.Gln575=) c.1958A= (p.Gln653=) c.1734+16791A= (n.1734+16791A=) | |
3 | g.32997266G>A | CA352000694 | GLB1 | c.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) | |
3 | g.32997266G>C | CA352000695 | GLB1 | c.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) | |
3 | g.32997266G>T | CA352000696 | GLB1 | c.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) | |
3 | g.32997269del | CA432960398 | GLB1 | c.1813del (p.Gln605SerfsTer4) c.1420del (p.Gln474SerfsTer4) c.1723del (p.Gln575SerfsTer4) c.1957del (p.Gln653SerfsTer4) c.1734+16790del (n.1734+16790del) | |
3 | g.32997267G>A | CA2299293 | GLB1 | c.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 |
3 | g.32997267G>C | CA432960399 | GLB1 | c.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 |
3 | g.32997267G= | CA1355976968 | GLB1 | c.1812C= (p.Pro604=) c.1419C= (p.Pro473=) c.1722C= (p.Pro574=) c.1956C= (p.Pro652=) c.1734+16789C= (n.1734+16789C=) | |
3 | g.32997267G>T | CA432960400 | GLB1 | c.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) | |
3 | g.32997268G>A | CA352000697 | GLB1 | c.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) | |
3 | g.32997268G>C | CA352000699 | GLB1 | c.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) | |
3 | g.32997268G>T | CA352000698 | GLB1 | c.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 |
3 | g.32997269G>A | CA352000700 | GLB1 | c.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 |
3 | g.32997269G>C | CA352000701 | GLB1 | c.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) | |
3 | g.32997269G= | CA1355976969 | GLB1 | c.1810C= (p.Pro604=) c.1417C= (p.Pro473=) c.1720C= (p.Pro574=) c.1954C= (p.Pro652=) c.1734+16787C= (n.1734+16787C=) | |
3 | g.32997269G>T | CA352000702 | GLB1 | c.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) | |
3 | g.32997270C>A | CA432960402 | GLB1 | c.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) | |
3 | g.32997270C>G | CA432960403 | GLB1 | c.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) | |
3 | g.32997270C>T | CA432960404 | GLB1 | c.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 |
3 | g.32997271A= | CA1355976970 | GLB1 | c.1808T= (p.Val603=) c.1415T= (p.Val472=) c.1718T= (p.Val573=) c.1952T= (p.Val651=) c.1734+16785T= (n.1734+16785T=) | |
3 | g.32997271A>C | CA352000703 | GLB1 | c.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) | |
3 | g.32997271A>G | CA352000704 | GLB1 | c.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 |
3 | g.32997271A>T | CA352000705 | GLB1 | c.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) | |
3 | g.32997272C>A | CA352000706 | GLB1 | c.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) | |
3 | g.32997272C>G | CA352000707 | GLB1 | c.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) | |
3 | g.32997272C>T | CA352000708 | GLB1 | c.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 |
3 | g.32997273A>C | CA352000709 | GLB1 | c.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) | |
3 | g.32997273A>G | CA432960405 | GLB1 | c.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) | |
3 | g.32997273A>T | CA352000710 | GLB1 | c.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) | |
3 | g.32997274A>C | CA352000711 | GLB1 | c.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) | |
3 | g.32997274A>G | CA352000713 | GLB1 | c.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) | |
3 | g.32997274A>T | CA352000712 | GLB1 | c.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) | |
3 | g.32997275A>C | CA352000714 | GLB1 | c.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) | |
3 | g.32997275A>G | CA352000715 | GLB1 | c.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) | |
3 | g.32997275A>T | CA352000716 | GLB1 | c.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) | |
3 | g.32997276C>A | CA352000717 | GLB1 | c.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) | |
3 | g.32997276C>G | CA352000718 | GLB1 | c.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) | |
3 | g.32997276C>T | CA432960408 | GLB1 | c.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 |
3 | g.32997277A= | CA1355976971 | GLB1 | c.1802T= (p.Leu601=) c.1409T= (p.Leu470=) c.1712T= (p.Leu571=) c.1946T= (p.Leu649=) c.1734+16779T= (n.1734+16779T=) | |
3 | g.32997277A>C | CA352000719 | GLB1 | c.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) | |
3 | g.32997277A>G | CA352000720 | GLB1 | c.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 |
3 | g.32997277A>T | CA352000721 | GLB1 | c.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) | |
3 | g.32997278A= | CA1355976972 | GLB1 | c.1801T= (p.Leu601=) c.1408T= (p.Leu470=) c.1711T= (p.Leu571=) c.1945T= (p.Leu649=) c.1734+16778T= (n.1734+16778T=) | |
3 | g.32997278A>C | CA72667231 | GLB1 | c.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 |
3 | g.32997278A>G | CA432960409 | GLB1 | c.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 |
3 | g.32997278A>T | CA352000722 | GLB1 | c.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) | |
3 | g.32997279G>A | CA432960412 | GLB1 | c.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 |
3 | g.32997279G>C | CA432960411 | GLB1 | c.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) | |
3 | g.32997279G= | CA1355976973 | GLB1 | c.1800C= (p.Thr600=) c.1407C= (p.Thr469=) c.1710C= (p.Thr570=) c.1944C= (p.Thr648=) c.1734+16777C= (n.1734+16777C=) | |
3 | g.32997279G>T | CA432960410 | GLB1 | c.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) | |
3 | g.32997280G>A | CA352000723 | GLB1 | c.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) | |
3 | g.32997280G>C | CA352000724 | GLB1 | c.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) | |
3 | g.32997280G>T | CA352000725 | GLB1 | c.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) | |
3 | g.32997281T>A | CA352000726 | GLB1 | c.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) | |
3 | g.32997281T>C | CA352000728 | GLB1 | c.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) | |
3 | g.32997281T>G | CA352000727 | GLB1 | c.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) | |
3 | g.32997282C>A | CA352000729 | GLB1 | c.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) | |
3 | g.32997282C>G | CA352000730 | GLB1 | c.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) | |
3 | g.32997282C>T | CA432960413 | GLB1 | c.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) | |
3 | g.32997283A>C | CA352000731 | GLB1 | c.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) | |
3 | g.32997283A>G | CA352000732 | GLB1 | c.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) | |
3 | g.32997283A>T | CA352000733 | GLB1 | c.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) | |
3 | g.32997284A>C | CA352000734 | GLB1 | c.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) | |
3 | g.32997284A>G | CA432960414 | GLB1 | c.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) | |
3 | g.32997284A>T | CA352000735 | GLB1 | c.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) | |
3 | g.32997285C>A | CA352000736 | GLB1 | c.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) | |
3 | g.32997285C= | CA1355976974 | GLB1 | c.1794G= (p.Gln598=) c.1401G= (p.Gln467=) c.1704G= (p.Gln568=) c.1938G= (p.Gln646=) c.1734+16771G= (n.1734+16771G=) | |
3 | g.32997285C>G | CA352000737 | GLB1 | c.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 |
3 | g.32997285C>T | CA2299294 | GLB1 | c.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 |
3 | g.32997286T>A | CA352000739 | GLB1 | c.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) | |
3 | g.32997286T>C | CA2299295 | GLB1 | c.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 |
3 | g.32997286T>G | CA352000738 | GLB1 | c.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) | |
3 | g.32997286T= | CA1355976975 | GLB1 | c.1793A= (p.Gln598=) c.1400A= (p.Gln467=) c.1703A= (p.Gln568=) c.1937A= (p.Gln646=) c.1734+16770A= (n.1734+16770A=) | |
3 | g.32997287G>A | CA352000740 | GLB1 | c.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 |
3 | g.32997287G>C | CA352000741 | GLB1 | c.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) | |
3 | g.32997287G= | CA1355976976 | GLB1 | c.1792C= (p.Gln598=) c.1399C= (p.Gln467=) c.1702C= (p.Gln568=) c.1936C= (p.Gln646=) c.1734+16769C= (n.1734+16769C=) | |
3 | g.32997287G>T | CA352000742 | GLB1 | c.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) | |
3 | g.32997288A>C | CA432960415 | GLB1 | c.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) | |
3 | g.32997288A>G | CA432960416 | GLB1 | c.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) | |
3 | g.32997288A>T | CA432960417 | GLB1 | c.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) | |
3 | g.32997289G>A | CA352000743 | GLB1 | c.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) | |
3 | g.32997289G>C | CA352000744 | GLB1 | c.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 |
3 | g.32997289G>T | CA352000745 | GLB1 | c.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) | |
3 | g.32997290G>A | CA352000748 | GLB1 | c.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 |
3 | g.32997290G>C | CA352000747 | GLB1 | c.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) | |
3 | g.32997290G>T | CA352000746 | GLB1 | c.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) | |
3 | g.32997291G>A | CA432960418 | GLB1 | c.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) | |
3 | g.32997291G>C | CA432960419 | GLB1 | c.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) | |
3 | g.32997291G>T | CA432960420 | GLB1 | c.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 |
3 | g.32997292C>A | CA352000749 | GLB1 | c.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) | |
3 | g.32997292C= | CA1355976977 | GLB1 | c.1787G= (p.Gly596=) c.1394G= (p.Gly465=) c.1697G= (p.Gly566=) c.1931G= (p.Gly644=) c.1734+16764G= (n.1734+16764G=) | |
3 | g.32997292C>G | CA352000750 | GLB1 | c.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) | |
3 | g.32997292C>T | CA352000751 | GLB1 | c.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 |
3 | g.32997295dup | CA2514682387 | GLB1 | c.1787dup (p.Gln598SerfsTer?) c.1394dup (p.Gln467SerfsTer?) c.1697dup (p.Gln568SerfsTer?) c.1931dup (p.Gln646SerfsTer?) c.1734+16764dup (n.1734+16764dup) | |
3 | g.32997293C>A | CA352000752 | GLB1 | c.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) | |
3 | g.32997293C>G | CA352000753 | GLB1 | c.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) | |
3 | g.32997293C>T | CA352000754 | GLB1 | c.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) | |
3 | g.32997294C>A | CA432960421 | GLB1 | c.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) | |
3 | g.32997294C>G | CA432960422 | GLB1 | c.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) | |
3 | g.32997294C>T | CA432960423 | GLB1 | c.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 |
3 | g.32997295C>A | CA352000755 | GLB1 | c.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 |
3 | g.32997295C= | CA1355976978 | GLB1 | c.1784G= (p.Arg595=) c.1391G= (p.Arg464=) c.1694G= (p.Arg565=) c.1928G= (p.Arg643=) c.1734+16761G= (n.1734+16761G=) | |
3 | g.32997295C>G | CA352000756 | GLB1 | c.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 |
3 | g.32997295C>T | CA2299296 | GLB1 | c.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 |
3 | g.32997296G>A | CA2299297 | GLB1 | c.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 |
3 | g.32997296G>C | CA352000757 | GLB1 | c.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) | |
3 | g.32997296G= | CA1355976979 | GLB1 | c.1783C= (p.Arg595=) c.1390C= (p.Arg464=) c.1693C= (p.Arg565=) c.1927C= (p.Arg643=) c.1734+16760C= (n.1734+16760C=) | |
3 | g.32997296G>T | CA432960424 | GLB1 | c.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) | |
3 | g.32997297G>A | CA432960427 | GLB1 | c.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 |
3 | g.32997297G>C | CA432960426 | GLB1 | c.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) | |
3 | g.32997297G>T | CA432960425 | GLB1 | c.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) | |
3 | g.32997298G>A | CA352000758 | GLB1 | c.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) | |
3 | g.32997298G>C | CA352000759 | GLB1 | c.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 |
3 | g.32997298G>T | CA352000760 | GLB1 | c.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) | |
3 | g.32997299C>A | CA352000761 | GLB1 | c.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) | |
3 | g.32997299C>G | CA352000762 | GLB1 | c.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) | |
3 | g.32997299C>T | CA352000763 | GLB1 | c.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 |
3 | g.32997300T>A | CA432960428 | GLB1 | c.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) | |
3 | g.32997300T>C | CA432960429 | GLB1 | c.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) | |
3 | g.32997300T>G | CA432960430 | GLB1 | c.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) | |
3 | g.32997301G>A | CA352000764 | GLB1 | c.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 |
3 | g.32997301G>C | CA352000765 | GLB1 | c.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) | |
3 | g.32997301G>T | CA352000766 | GLB1 | c.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) | |
3 | g.32997302del | CA2586971833 | GLB1 | c.1778del (p.Pro593GlnfsTer7) c.1385del (p.Pro462GlnfsTer7) c.1688del (p.Pro563GlnfsTer7) c.1922del (p.Pro641GlnfsTer7) c.1734+16755del (n.1734+16755del) | |
3 | g.32997302G>A | CA352000767 | GLB1 | c.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 |
3 | g.32997302G>C | CA352000769 | GLB1 | c.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) | |
3 | g.32997302G>T | CA352000768 | GLB1 | c.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) | |
3 | g.32997303C>A | CA352000770 | GLB1 | c.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) | |
3 | g.32997303C>G | CA352000771 | GLB1 | c.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) | |
3 | g.32997303C>T | CA352000772 | GLB1 | c.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) | |
3 | g.32997304C>A | CA352000773 | GLB1 | c.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) | |
3 | g.32997304C= | CA1355976980 | GLB1 | c.1775G= (p.Trp592=) c.1382G= (p.Trp461=) c.1685G= (p.Trp562=) c.1919G= (p.Trp640=) c.1734+16752G= (n.1734+16752G=) | |
3 | g.32997304C>G | CA352000774 | GLB1 | c.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) | |
3 | g.32997304C>T | CA352000775 | GLB1 | c.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 |
3 | g.32997305A>C | CA352000776 | GLB1 | c.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) | |
3 | g.32997305A>G | CA352000777 | GLB1 | c.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) | |
3 | g.32997305A>T | CA352000778 | GLB1 | c.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) | |
3 | g.32997306A>C | CA352000779 | GLB1 | c.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) | |
3 | g.32997306A>G | CA432960431 | GLB1 | c.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 |
3 | g.32997306A>T | CA352000780 | GLB1 | c.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) | |
3 | g.32997307T>A | CA352000781 | GLB1 | c.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) | |
3 | g.32997307T>C | CA114671 | GLB1 | c.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 |
3 | g.32997307T>G | CA72667244 | GLB1 | c.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 |
3 | g.32997307T= | CA1355976981 | GLB1 | c.1772A= (p.Tyr591=) c.1379A= (p.Tyr460=) c.1682A= (p.Tyr561=) c.1916A= (p.Tyr639=) c.1734+16749A= (n.1734+16749A=) | |
3 | g.32997308A= | CA1355976982 | GLB1 | c.1771T= (p.Tyr591=) c.1378T= (p.Tyr460=) c.1681T= (p.Tyr561=) c.1915T= (p.Tyr639=) c.1734+16748T= (n.1734+16748T=) | |
3 | g.32997308A>C | CA352000782 | GLB1 | c.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) | |
3 | g.32997308A>G | CA2299298 | GLB1 | c.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 |
3 | g.32997308A>T | CA114669 | GLB1 | c.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 |
3 | g.32997309G>A | CA432960432 | GLB1 | c.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) | |
3 | g.32997309G>C | CA432960433 | GLB1 | c.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) | |
3 | g.32997309G>T | CA432960434 | GLB1 | c.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) | |
3 | g.32997310del | CA2664926661 | GLB1 | c.1769del (p.Arg590ProfsTer10) c.1376del (p.Arg459ProfsTer10) c.1679del (p.Arg560ProfsTer10) c.1913del (p.Arg638ProfsTer10) c.1734+16746del (n.1734+16746del) | gnomAD v4 |
3 | g.32997310C>A | CA352000783 | GLB1 | c.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) | |
3 | g.32997310C= | CA1355976983 | GLB1 | c.1769G= (p.Arg590=) c.1376G= (p.Arg459=) c.1679G= (p.Arg560=) c.1913G= (p.Arg638=) c.1734+16746G= (n.1734+16746G=) | |
3 | g.32997310C>G | CA352000784 | GLB1 | c.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) | |
3 | g.32997310C>T | CA201251 | GLB1 | c.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 |
3 | g.32997311G>A | CA201253 | GLB1 | c.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 |
3 | g.32997311G>C | CA352000785 | GLB1 | c.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 |
3 | g.32997311G= | CA1355976984 | GLB1 | c.1768C= (p.Arg590=) c.1375C= (p.Arg459=) c.1678C= (p.Arg560=) c.1912C= (p.Arg638=) c.1734+16745C= (n.1734+16745C=) | |
3 | g.32997311G>T | CA352000786 | GLB1 | c.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 |
3 | g.32997312G>A | CA2299299 | GLB1 | c.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 |
3 | g.32997312G>C | CA432960436 | GLB1 | c.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) | |
3 | g.32997312G= | CA1355976985 | GLB1 | c.1767C= (p.Gly589=) c.1374C= (p.Gly458=) c.1677C= (p.Gly559=) c.1911C= (p.Gly637=) c.1734+16744C= (n.1734+16744C=) | |
3 | g.32997312G>T | CA432960435 | GLB1 | c.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) | |
3 | g.32997313C>A | CA352000787 | GLB1 | c.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) | |
3 | g.32997313C= | CA1355976986 | GLB1 | c.1766G= (p.Gly589=) c.1373G= (p.Gly458=) c.1676G= (p.Gly559=) c.1910G= (p.Gly637=) c.1734+16743G= (n.1734+16743G=) | |
3 | g.32997313C>G | CA72667259 | GLB1 | c.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 |
3 | g.32997313C>T | CA352000788 | GLB1 | c.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 |
3 | g.32997314C>A | CA352000790 | GLB1 | c.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) | |
3 | g.32997314C>G | CA352000791 | GLB1 | c.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) | |
3 | g.32997314C>T | CA352000789 | GLB1 | c.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) | |
3 | g.32997315A>C | CA432960437 | GLB1 | c.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 |
3 | g.32997315A>G | CA432960438 | GLB1 | c.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 |
3 | g.32997315A>T | CA432960439 | GLB1 | c.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) | |
3 | g.32997316A>C | CA352000794 | GLB1 | c.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 |
3 | g.32997316A>G | CA352000792 | GLB1 | c.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) | |
3 | g.32997316A>T | CA352000793 | GLB1 | c.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) | |
3 | g.32997317G>A | CA352000795 | GLB1 | c.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) | |
3 | g.32997317G>C | CA352000796 | GLB1 | c.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 |
3 | g.32997317G= | CA1355976987 | GLB1 | c.1762C= (p.Leu588=) c.1369C= (p.Leu457=) c.1672C= (p.Leu558=) c.1906C= (p.Leu636=) c.1734+16739C= (n.1734+16739C=) | |
3 | g.32997317G>T | CA352000797 | GLB1 | c.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 |
3 | g.32997318G>A | CA432960440 | GLB1 | c.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 |
3 | g.32997318G>C | CA352000798 | GLB1 | c.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) | |
3 | g.32997318G>T | CA352000799 | GLB1 | c.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) | |
3 | g.32997319T>A | CA352000802 | GLB1 | c.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) | |
3 | g.32997319T>C | CA352000800 | GLB1 | c.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) | |
3 | g.32997319T>G | CA352000801 | GLB1 | c.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) | |
3 | g.32997320T>A | CA352000803 | GLB1 | c.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) | |
3 | g.32997320T>C | CA352000804 | GLB1 | c.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) | |
3 | g.32997320T>G | CA352000805 | GLB1 | c.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 |
3 | g.32997320T= | CA1355976988 | GLB1 | c.1759A= (p.Asn587=) c.1366A= (p.Asn456=) c.1669A= (p.Asn557=) c.1903A= (p.Asn635=) c.1734+16736A= (n.1734+16736A=) | |
3 | g.32997321A>C | CA352000806 | GLB1 | c.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) | |
3 | g.32997321A>G | CA432960441 | GLB1 | c.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) | |
3 | g.32997321A>T | CA352000807 | GLB1 | c.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) | |
3 | g.32997322A>C | CA352000808 | GLB1 | c.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) | |
3 | g.32997322A>G | CA352000810 | GLB1 | c.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) | |
3 | g.32997322A>T | CA352000809 | GLB1 | c.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) | |
3 | g.32997323A>C | CA352000811 | GLB1 | c.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) | |
3 | g.32997323A>G | CA352000812 | GLB1 | c.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) | |
3 | g.32997323A>T | CA352000813 | GLB1 | c.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) | |
3 | g.32997324G>A | CA432960442 | GLB1 | c.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) | |
3 | g.32997324G>C | CA432960443 | GLB1 | c.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) | |
3 | g.32997324G>T | CA432960444 | GLB1 | c.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) | |
3 | g.32997325C>A | CA352000814 | GLB1 | c.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 |
3 | g.32997325C= | CA1355976989 | GLB1 | c.1754G= (p.Gly585=) c.1361G= (p.Gly454=) c.1664G= (p.Gly555=) c.1898G= (p.Gly633=) c.1734+16731G= (n.1734+16731G=) | |
3 | g.32997325C>G | CA352000815 | GLB1 | c.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) | |
3 | g.32997325C>T | CA352000816 | GLB1 | c.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) | |
3 | g.32997326C>A | CA352000817 | GLB1 | c.1753G>T (p.Gly585Cys) c.1360G>T (p.Gly454Cys) c.1663G>T (p.Gly555Cys) c.1897G>T (p.Gly633Cys) c.1734+16730G>T (n.1734+16730G>T) | |
3 | g.32997326C= | CA1355976990 | GLB1 | c.1753G= (p.Gly585=) c.1360G= (p.Gly454=) c.1663G= (p.Gly555=) c.1897G= (p.Gly633=) c.1734+16730G= (n.1734+16730G=) | |
3 | g.32997326C>G | CA352000818 | GLB1 | c.1753G>C (p.Gly585Arg) c.1360G>C (p.Gly454Arg) c.1663G>C (p.Gly555Arg) c.1897G>C (p.Gly633Arg) c.1734+16730G>C (n.1734+16730G>C) | |
3 | g.32997326C>T | CA352000819 | GLB1 | c.1753G>A (p.Gly585Ser) c.1360G>A (p.Gly454Ser) c.1663G>A (p.Gly555Ser) c.1897G>A (p.Gly633Ser) c.1734+16730G>A (n.1734+16730G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.32997327A>C | CA352000820 | GLB1 | c.1752T>G (p.Asn584Lys) c.1359T>G (p.Asn453Lys) c.1662T>G (p.Asn554Lys) c.1896T>G (p.Asn632Lys) c.1734+16729T>G (n.1734+16729T>G) | |
3 | g.32997327A>G | CA432960445 | GLB1 | c.1752T>C (p.Asn584=) c.1359T>C (p.Asn453=) c.1662T>C (p.Asn554=) c.1896T>C (p.Asn632=) c.1734+16729T>C (n.1734+16729T>C) | ClinVar dbSNP |
3 | g.32997327A>T | CA352000821 | GLB1 | c.1752T>A (p.Asn584Lys) c.1359T>A (p.Asn453Lys) c.1662T>A (p.Asn554Lys) c.1896T>A (p.Asn632Lys) c.1734+16729T>A (n.1734+16729T>A) |