Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.33014107C>ACA432952575GLB1c.1683G>T (p.Gly561=)
c.1290G>T (p.Gly430=)
c.1593G>T (p.Gly531=)
n.782G>T
c.1827G>T (p.Gly609=)
3g.33014107C=CA1355984287GLB1c.1683G= (p.Gly561=)
c.1290G= (p.Gly430=)
c.1593G= (p.Gly531=)
n.782G=
c.1827G= (p.Gly609=)
3g.33014107C>GCA432952576GLB1c.1683G>C (p.Gly561=)
c.1290G>C (p.Gly430=)
c.1593G>C (p.Gly531=)
n.782G>C
c.1827G>C (p.Gly609=)
3g.33014107C>TCA72646123GLB1c.1683G>A (p.Gly561=)
c.1290G>A (p.Gly430=)
c.1593G>A (p.Gly531=)
n.782G>A
c.1827G>A (p.Gly609=)
 dbSNP gnomAD v4 COSMIC COSMIC
3g.33014108C>ACA351983915GLB1c.1682G>T (p.Gly561Val)
c.1289G>T (p.Gly430Val)
c.1592G>T (p.Gly531Val)
n.781G>T
c.1826G>T (p.Gly609Val)
3g.33014108C>GCA351983920GLB1c.1682G>C (p.Gly561Ala)
c.1289G>C (p.Gly430Ala)
c.1592G>C (p.Gly531Ala)
n.781G>C
c.1826G>C (p.Gly609Ala)
3g.33014108C>TCA351983921GLB1c.1682G>A (p.Gly561Glu)
c.1289G>A (p.Gly430Glu)
c.1592G>A (p.Gly531Glu)
n.781G>A
c.1826G>A (p.Gly609Glu)
 COSMIC COSMIC
3g.33014109C>ACA351983923GLB1c.1681G>T (p.Gly561Trp)
c.1288G>T (p.Gly430Trp)
c.1591G>T (p.Gly531Trp)
n.780G>T
c.1825G>T (p.Gly609Trp)
3g.33014109C>GCA351983926GLB1c.1681G>C (p.Gly561Arg)
c.1288G>C (p.Gly430Arg)
c.1591G>C (p.Gly531Arg)
n.780G>C
c.1825G>C (p.Gly609Arg)
3g.33014109C>TCA351983938GLB1c.1681G>A (p.Gly561Arg)
c.1288G>A (p.Gly430Arg)
c.1591G>A (p.Gly531Arg)
n.780G>A
c.1825G>A (p.Gly609Arg)
3g.33014110A>CCA351983947GLB1c.1680T>G (p.Ser560Arg)
c.1287T>G (p.Ser429Arg)
c.1590T>G (p.Ser530Arg)
n.779T>G
c.1824T>G (p.Ser608Arg)
3g.33014110A>GCA432952578GLB1c.1680T>C (p.Ser560=)
c.1287T>C (p.Ser429=)
c.1590T>C (p.Ser530=)
n.779T>C
c.1824T>C (p.Ser608=)
 ClinVar gnomAD v4
3g.33014110A>TCA351983956GLB1c.1680T>A (p.Ser560Arg)
c.1287T>A (p.Ser429Arg)
c.1590T>A (p.Ser530Arg)
n.779T>A
c.1824T>A (p.Ser608Arg)
3g.33014111C>ACA2299329GLB1c.1679G>T (p.Ser560Ile)
c.1286G>T (p.Ser429Ile)
c.1589G>T (p.Ser530Ile)
n.778G>T
c.1823G>T (p.Ser608Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.33014111C=CA1355984288GLB1c.1679G= (p.Ser560=)
c.1286G= (p.Ser429=)
c.1589G= (p.Ser530=)
n.778G=
c.1823G= (p.Ser608=)
3g.33014111C>GCA351983986GLB1c.1679G>C (p.Ser560Thr)
c.1286G>C (p.Ser429Thr)
c.1589G>C (p.Ser530Thr)
n.778G>C
c.1823G>C (p.Ser608Thr)
3g.33014111C>TCA2299330GLB1c.1679G>A (p.Ser560Asn)
c.1286G>A (p.Ser429Asn)
c.1589G>A (p.Ser530Asn)
n.778G>A
c.1823G>A (p.Ser608Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.33014112T>ACA351984000GLB1c.1678A>T (p.Ser560Cys)
c.1285A>T (p.Ser429Cys)
c.1588A>T (p.Ser530Cys)
n.777A>T
c.1822A>T (p.Ser608Cys)
 gnomAD v4
3g.33014112T>CCA351984005GLB1c.1678A>G (p.Ser560Gly)
c.1285A>G (p.Ser429Gly)
c.1588A>G (p.Ser530Gly)
n.777A>G
c.1822A>G (p.Ser608Gly)
3g.33014112T>GCA351983995GLB1c.1678A>C (p.Ser560Arg)
c.1285A>C (p.Ser429Arg)
c.1588A>C (p.Ser530Arg)
n.777A>C
c.1822A>C (p.Ser608Arg)
 gnomAD v4
3g.33014113G>ACA432952582GLB1c.1677C>T (p.Pro559=)
c.1284C>T (p.Pro428=)
c.1587C>T (p.Pro529=)
n.776C>T
c.1821C>T (p.Pro607=)
 gnomAD v4
3g.33014113G>CCA432952581GLB1c.1677C>G (p.Pro559=)
c.1284C>G (p.Pro428=)
c.1587C>G (p.Pro529=)
n.776C>G
c.1821C>G (p.Pro607=)
3g.33014113G=CA1355984289GLB1c.1677C= (p.Pro559=)
c.1284C= (p.Pro428=)
c.1587C= (p.Pro529=)
n.776C=
c.1821C= (p.Pro607=)
3g.33014113G>TCA2299331GLB1c.1677C>A (p.Pro559=)
c.1284C>A (p.Pro428=)
c.1587C>A (p.Pro529=)
n.776C>A
c.1821C>A (p.Pro607=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.33014114G>ACA351984028GLB1c.1676C>T (p.Pro559Leu)
c.1283C>T (p.Pro428Leu)
c.1586C>T (p.Pro529Leu)
n.775C>T
c.1820C>T (p.Pro607Leu)
 gnomAD v4
3g.33014114G>CCA351984037GLB1c.1676C>G (p.Pro559Arg)
c.1283C>G (p.Pro428Arg)
c.1586C>G (p.Pro529Arg)
n.775C>G
c.1820C>G (p.Pro607Arg)
3g.33014114G>TCA351984043GLB1c.1676C>A (p.Pro559His)
c.1283C>A (p.Pro428His)
c.1586C>A (p.Pro529His)
n.775C>A
c.1820C>A (p.Pro607His)
3g.33014115G>ACA351984052GLB1c.1675C>T (p.Pro559Ser)
c.1282C>T (p.Pro428Ser)
c.1585C>T (p.Pro529Ser)
n.774C>T
c.1819C>T (p.Pro607Ser)
 gnomAD v4
3g.33014115G>CCA351984056GLB1c.1675C>G (p.Pro559Ala)
c.1282C>G (p.Pro428Ala)
c.1585C>G (p.Pro529Ala)
n.774C>G
c.1819C>G (p.Pro607Ala)
3g.33014115G>TCA351984067GLB1c.1675C>A (p.Pro559Thr)
c.1282C>A (p.Pro428Thr)
c.1585C>A (p.Pro529Thr)
n.774C>A
c.1819C>A (p.Pro607Thr)
3g.33014116A>CCA351984072GLB1c.1674T>G (p.Ile558Met)
c.1281T>G (p.Ile427Met)
c.1584T>G (p.Ile528Met)
n.773T>G
c.1818T>G (p.Ile606Met)
3g.33014116A>GCA432952584GLB1c.1674T>C (p.Ile558=)
c.1281T>C (p.Ile427=)
c.1584T>C (p.Ile528=)
n.773T>C
c.1818T>C (p.Ile606=)
3g.33014116A>TCA432952585GLB1c.1674T>A (p.Ile558=)
c.1281T>A (p.Ile427=)
c.1584T>A (p.Ile528=)
n.773T>A
c.1818T>A (p.Ile606=)
3g.33014117A>CCA351984080GLB1c.1673T>G (p.Ile558Ser)
c.1280T>G (p.Ile427Ser)
c.1583T>G (p.Ile528Ser)
n.772T>G
c.1817T>G (p.Ile606Ser)
3g.33014117A>GCA351984082GLB1c.1673T>C (p.Ile558Thr)
c.1280T>C (p.Ile427Thr)
c.1583T>C (p.Ile528Thr)
n.772T>C
c.1817T>C (p.Ile606Thr)
3g.33014117A>TCA351984084GLB1c.1673T>A (p.Ile558Asn)
c.1280T>A (p.Ile427Asn)
c.1583T>A (p.Ile528Asn)
n.772T>A
c.1817T>A (p.Ile606Asn)
3g.33014118T>ACA351984095GLB1c.1672A>T (p.Ile558Phe)
c.1279A>T (p.Ile427Phe)
c.1582A>T (p.Ile528Phe)
n.771A>T
c.1816A>T (p.Ile606Phe)
3g.33014118T>CCA351984098GLB1c.1672A>G (p.Ile558Val)
c.1279A>G (p.Ile427Val)
c.1582A>G (p.Ile528Val)
n.771A>G
c.1816A>G (p.Ile606Val)
 ClinVar dbSNP
3g.33014118T>GCA351984089GLB1c.1672A>C (p.Ile558Leu)
c.1279A>C (p.Ile427Leu)
c.1582A>C (p.Ile528Leu)
n.771A>C
c.1816A>C (p.Ile606Leu)
3g.33014118T=CA1355984290GLB1c.1672A= (p.Ile558=)
c.1279A= (p.Ile427=)
c.1582A= (p.Ile528=)
n.771A=
c.1816A= (p.Ile606=)
3g.33014119G>ACA432952589GLB1c.1671C>T (p.Ser557=)
c.1278C>T (p.Ser426=)
c.1581C>T (p.Ser527=)
n.770C>T
c.1815C>T (p.Ser605=)
3g.33014119G>CCA432952590GLB1c.1671C>G (p.Ser557=)
c.1278C>G (p.Ser426=)
c.1581C>G (p.Ser527=)
n.770C>G
c.1815C>G (p.Ser605=)
3g.33014119G>TCA432952591GLB1c.1671C>A (p.Ser557=)
c.1278C>A (p.Ser426=)
c.1581C>A (p.Ser527=)
n.770C>A
c.1815C>A (p.Ser605=)
3g.33014120G>ACA351984104GLB1c.1670C>T (p.Ser557Phe)
c.1277C>T (p.Ser426Phe)
c.1580C>T (p.Ser527Phe)
n.769C>T
c.1814C>T (p.Ser605Phe)
 COSMIC COSMIC
3g.33014120G>CCA351984105GLB1c.1670C>G (p.Ser557Cys)
c.1277C>G (p.Ser426Cys)
c.1580C>G (p.Ser527Cys)
n.769C>G
c.1814C>G (p.Ser605Cys)
 dbSNP gnomAD v4
3g.33014120G=CA1355984291GLB1c.1670C= (p.Ser557=)
c.1277C= (p.Ser426=)
c.1580C= (p.Ser527=)
n.769C=
c.1814C= (p.Ser605=)
3g.33014120G>TCA351984106GLB1c.1670C>A (p.Ser557Tyr)
c.1277C>A (p.Ser426Tyr)
c.1580C>A (p.Ser527Tyr)
n.769C>A
c.1814C>A (p.Ser605Tyr)
3g.33014121A=CA1355984292GLB1c.1669T= (p.Ser557=)
c.1276T= (p.Ser426=)
c.1579T= (p.Ser527=)
n.768T=
c.1813T= (p.Ser605=)
3g.33014121A>CCA351984124GLB1c.1669T>G (p.Ser557Ala)
c.1276T>G (p.Ser426Ala)
c.1579T>G (p.Ser527Ala)
n.768T>G
c.1813T>G (p.Ser605Ala)
 gnomAD v4
3g.33014121A>GCA72646163GLB1c.1669T>C (p.Ser557Pro)
c.1276T>C (p.Ser426Pro)
c.1579T>C (p.Ser527Pro)
n.768T>C
c.1813T>C (p.Ser605Pro)
 dbSNP
3g.33014121A>TCA351984160GLB1c.1669T>A (p.Ser557Thr)
c.1276T>A (p.Ser426Thr)
c.1579T>A (p.Ser527Thr)
n.768T>A
c.1813T>A (p.Ser605Thr)
3g.33014122G>ACA432952593GLB1c.1668C>T (p.Phe556=)
c.1275C>T (p.Phe425=)
c.1578C>T (p.Phe526=)
n.767C>T
c.1812C>T (p.Phe604=)
3g.33014122G>CCA351984167GLB1c.1668C>G (p.Phe556Leu)
c.1275C>G (p.Phe425Leu)
c.1578C>G (p.Phe526Leu)
n.767C>G
c.1812C>G (p.Phe604Leu)
 dbSNP
3g.33014122G=CA1355984293GLB1c.1668C= (p.Phe556=)
c.1275C= (p.Phe425=)
c.1578C= (p.Phe526=)
n.767C=
c.1812C= (p.Phe604=)
3g.33014122G>TCA351984173GLB1c.1668C>A (p.Phe556Leu)
c.1275C>A (p.Phe425Leu)
c.1578C>A (p.Phe526Leu)
n.767C>A
c.1812C>A (p.Phe604Leu)
3g.33014123A>CCA351984180GLB1c.1667T>G (p.Phe556Cys)
c.1274T>G (p.Phe425Cys)
c.1577T>G (p.Phe526Cys)
n.766T>G
c.1811T>G (p.Phe604Cys)
3g.33014123A>GCA351984196GLB1c.1667T>C (p.Phe556Ser)
c.1274T>C (p.Phe425Ser)
c.1577T>C (p.Phe526Ser)
n.766T>C
c.1811T>C (p.Phe604Ser)
 ClinVar gnomAD v4
3g.33014123A>TCA351984219GLB1c.1667T>A (p.Phe556Tyr)
c.1274T>A (p.Phe425Tyr)
c.1577T>A (p.Phe526Tyr)
n.766T>A
c.1811T>A (p.Phe604Tyr)
3g.33014124A>CCA351984224GLB1c.1666T>G (p.Phe556Val)
c.1273T>G (p.Phe425Val)
c.1576T>G (p.Phe526Val)
n.765T>G
c.1810T>G (p.Phe604Val)
3g.33014124A>GCA351984232GLB1c.1666T>C (p.Phe556Leu)
c.1273T>C (p.Phe425Leu)
c.1576T>C (p.Phe526Leu)
n.765T>C
c.1810T>C (p.Phe604Leu)
3g.33014124A>TCA351984235GLB1c.1666T>A (p.Phe556Ile)
c.1273T>A (p.Phe425Ile)
c.1576T>A (p.Phe526Ile)
n.765T>A
c.1810T>A (p.Phe604Ile)
3g.33014125G>ACA72646165GLB1c.1665C>T (p.Asn555=)
c.1272C>T (p.Asn424=)
c.1575C>T (p.Asn525=)
n.764C>T
c.1809C>T (p.Asn603=)
 ClinVar dbSNP gnomAD v4
3g.33014125G>CCA351984242GLB1c.1665C>G (p.Asn555Lys)
c.1272C>G (p.Asn424Lys)
c.1575C>G (p.Asn525Lys)
n.764C>G
c.1809C>G (p.Asn603Lys)
3g.33014125G=CA1355984294GLB1c.1665C= (p.Asn555=)
c.1272C= (p.Asn424=)
c.1575C= (p.Asn525=)
n.764C=
c.1809C= (p.Asn603=)
3g.33014125G>TCA351984241GLB1c.1665C>A (p.Asn555Lys)
c.1272C>A (p.Asn424Lys)
c.1575C>A (p.Asn525Lys)
n.764C>A
c.1809C>A (p.Asn603Lys)
 gnomAD v4
3g.33014126T>ACA351984254GLB1c.1664A>T (p.Asn555Ile)
c.1271A>T (p.Asn424Ile)
c.1574A>T (p.Asn525Ile)
n.763A>T
c.1808A>T (p.Asn603Ile)
3g.33014126T>CCA351984245GLB1c.1664A>G (p.Asn555Ser)
c.1271A>G (p.Asn424Ser)
c.1574A>G (p.Asn525Ser)
n.763A>G
c.1808A>G (p.Asn603Ser)
 dbSNP gnomAD v2 gnomAD v4
3g.33014126T>GCA351984267GLB1c.1664A>C (p.Asn555Thr)
c.1271A>C (p.Asn424Thr)
c.1574A>C (p.Asn525Thr)
n.763A>C
c.1808A>C (p.Asn603Thr)
3g.33014126T=CA1355984295GLB1c.1664A= (p.Asn555=)
c.1271A= (p.Asn424=)
c.1574A= (p.Asn525=)
n.763A=
c.1808A= (p.Asn603=)
3g.33014127T>ACA351984278GLB1c.1663A>T (p.Asn555Tyr)
c.1270A>T (p.Asn424Tyr)
c.1573A>T (p.Asn525Tyr)
n.762A>T
c.1807A>T (p.Asn603Tyr)
3g.33014127T>CCA351984287GLB1c.1663A>G (p.Asn555Asp)
c.1270A>G (p.Asn424Asp)
c.1573A>G (p.Asn525Asp)
n.762A>G
c.1807A>G (p.Asn603Asp)
 COSMIC COSMIC
3g.33014127T>GCA351984289GLB1c.1663A>C (p.Asn555His)
c.1270A>C (p.Asn424His)
c.1573A>C (p.Asn525His)
n.762A>C
c.1807A>C (p.Asn603His)
3g.33014128C>ACA432952596GLB1c.1662G>T (p.Gly554=)
c.1269G>T (p.Gly423=)
c.1572G>T (p.Gly524=)
n.761G>T
c.1806G>T (p.Gly602=)
 ClinVar
3g.33014128C=CA1355984296GLB1c.1662G= (p.Gly554=)
c.1269G= (p.Gly423=)
c.1572G= (p.Gly524=)
n.761G=
c.1806G= (p.Gly602=)
3g.33014128C>GCA432952597GLB1c.1662G>C (p.Gly554=)
c.1269G>C (p.Gly423=)
c.1572G>C (p.Gly524=)
n.761G>C
c.1806G>C (p.Gly602=)
3g.33014128C>TCA2299332GLB1c.1662G>A (p.Gly554=)
c.1269G>A (p.Gly423=)
c.1572G>A (p.Gly524=)
n.761G>A
c.1806G>A (p.Gly602=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.33014129C>ACA351984301GLB1c.1661G>T (p.Gly554Val)
c.1268G>T (p.Gly423Val)
c.1571G>T (p.Gly524Val)
n.760G>T
c.1805G>T (p.Gly602Val)
3g.33014129C>GCA351984310GLB1c.1661G>C (p.Gly554Ala)
c.1268G>C (p.Gly423Ala)
c.1571G>C (p.Gly524Ala)
n.760G>C
c.1805G>C (p.Gly602Ala)
3g.33014129C>TCA351984312GLB1c.1661G>A (p.Gly554Glu)
c.1268G>A (p.Gly423Glu)
c.1571G>A (p.Gly524Glu)
n.760G>A
c.1805G>A (p.Gly602Glu)
3g.33014130C>ACA351984315GLB1c.1660G>T (p.Gly554Trp)
c.1267G>T (p.Gly423Trp)
c.1570G>T (p.Gly524Trp)
n.759G>T
c.1804G>T (p.Gly602Trp)
3g.33014130C>GCA351984316GLB1c.1660G>C (p.Gly554Arg)
c.1267G>C (p.Gly423Arg)
c.1570G>C (p.Gly524Arg)
n.759G>C
c.1804G>C (p.Gly602Arg)
 gnomAD v4
3g.33014130C>TCA351984319GLB1c.1660G>A (p.Gly554Arg)
c.1267G>A (p.Gly423Arg)
c.1570G>A (p.Gly524Arg)
n.759G>A
c.1804G>A (p.Gly602Arg)
 ClinVar
3g.33014131C>ACA351984338GLB1c.1659G>T (p.Met553Ile)
c.1266G>T (p.Met422Ile)
c.1569G>T (p.Met523Ile)
n.758G>T
c.1803G>T (p.Met601Ile)
3g.33014131C>GCA351984344GLB1c.1659G>C (p.Met553Ile)
c.1266G>C (p.Met422Ile)
c.1569G>C (p.Met523Ile)
n.758G>C
c.1803G>C (p.Met601Ile)
3g.33014131C>TCA351984354GLB1c.1659G>A (p.Met553Ile)
c.1266G>A (p.Met422Ile)
c.1569G>A (p.Met523Ile)
n.758G>A
c.1803G>A (p.Met601Ile)
3g.33014132A>CCA351984372GLB1c.1658T>G (p.Met553Arg)
c.1265T>G (p.Met422Arg)
c.1568T>G (p.Met523Arg)
n.757T>G
c.1802T>G (p.Met601Arg)
3g.33014132A>GCA351984362GLB1c.1658T>C (p.Met553Thr)
c.1265T>C (p.Met422Thr)
c.1568T>C (p.Met523Thr)
n.757T>C
c.1802T>C (p.Met601Thr)
 ClinVar dbSNP gnomAD v4
3g.33014132A>TCA351984368GLB1c.1658T>A (p.Met553Lys)
c.1265T>A (p.Met422Lys)
c.1568T>A (p.Met523Lys)
n.757T>A
c.1802T>A (p.Met601Lys)
3g.33014133T>ACA351984378GLB1c.1657A>T (p.Met553Leu)
c.1264A>T (p.Met422Leu)
c.1567A>T (p.Met523Leu)
n.756A>T
c.1801A>T (p.Met601Leu)
3g.33014133T>CCA351984381GLB1c.1657A>G (p.Met553Val)
c.1264A>G (p.Met422Val)
c.1567A>G (p.Met523Val)
n.756A>G
c.1801A>G (p.Met601Val)
 dbSNP gnomAD v3 gnomAD v4
3g.33014133T>GCA351984395GLB1c.1657A>C (p.Met553Leu)
c.1264A>C (p.Met422Leu)
c.1567A>C (p.Met523Leu)
n.756A>C
c.1801A>C (p.Met601Leu)
3g.33014133T=CA1355984297GLB1c.1657A= (p.Met553=)
c.1264A= (p.Met422=)
c.1567A= (p.Met523=)
n.756A=
c.1801A= (p.Met601=)
3g.33014133dupCA2586971835GLB1c.1657dup (p.Met553AsnfsTer?)
c.1264dup (p.Met422AsnfsTer?)
c.1567dup (p.Met523AsnfsTer?)
n.756dup
c.1801dup (p.Met601AsnfsTer?)
3g.33014134A>CCA351984400GLB1c.1656T>G (p.Tyr552Ter)
c.1263T>G (p.Tyr421Ter)
c.1566T>G (p.Tyr522Ter)
n.755T>G
c.1800T>G (p.Tyr600Ter)
3g.33014134A>GCA432952602GLB1c.1656T>C (p.Tyr552=)
c.1263T>C (p.Tyr421=)
c.1566T>C (p.Tyr522=)
n.755T>C
c.1800T>C (p.Tyr600=)
 ClinVar dbSNP gnomAD v4
3g.33014134A>TCA351984401GLB1c.1656T>A (p.Tyr552Ter)
c.1263T>A (p.Tyr421Ter)
c.1566T>A (p.Tyr522Ter)
n.755T>A
c.1800T>A (p.Tyr600Ter)
3g.33014135T>ACA351984403GLB1c.1655A>T (p.Tyr552Phe)
c.1262A>T (p.Tyr421Phe)
c.1565A>T (p.Tyr522Phe)
n.754A>T
c.1799A>T (p.Tyr600Phe)
 gnomAD v4
3g.33014135T>CCA351984416GLB1c.1655A>G (p.Tyr552Cys)
c.1262A>G (p.Tyr421Cys)
c.1565A>G (p.Tyr522Cys)
n.754A>G
c.1799A>G (p.Tyr600Cys)
 dbSNP gnomAD v2 gnomAD v4
3g.33014135T>GCA351984421GLB1c.1655A>C (p.Tyr552Ser)
c.1262A>C (p.Tyr421Ser)
c.1565A>C (p.Tyr522Ser)
n.754A>C
c.1799A>C (p.Tyr600Ser)
3g.33014135T=CA1355984298GLB1c.1655A= (p.Tyr552=)
c.1262A= (p.Tyr421=)
c.1565A= (p.Tyr522=)
n.754A=
c.1799A= (p.Tyr600=)
3g.33014136A>CCA351984426GLB1c.1654T>G (p.Tyr552Asp)
c.1261T>G (p.Tyr421Asp)
c.1564T>G (p.Tyr522Asp)
n.753T>G
c.1798T>G (p.Tyr600Asp)
3g.33014136A>GCA351984427GLB1c.1654T>C (p.Tyr552His)
c.1261T>C (p.Tyr421His)
c.1564T>C (p.Tyr522His)
n.753T>C
c.1798T>C (p.Tyr600His)
3g.33014136A>TCA351984428GLB1c.1654T>A (p.Tyr552Asn)
c.1261T>A (p.Tyr421Asn)
c.1564T>A (p.Tyr522Asn)
n.753T>A
c.1798T>A (p.Tyr600Asn)
3g.33014139dupCA2580069243GLB1c.1654dup (p.Tyr552LeufsTer?)
c.1261dup (p.Tyr421LeufsTer?)
c.1564dup (p.Tyr522LeufsTer?)
n.753dup
c.1798dup (p.Tyr600LeufsTer?)
 ClinVar
3g.33014137A=CA1355984299GLB1c.1653T= (p.Phe551=)
c.1260T= (p.Phe420=)
c.1563T= (p.Phe521=)
n.752T=
c.1797T= (p.Phe599=)
3g.33014137A>CCA351984444GLB1c.1653T>G (p.Phe551Leu)
c.1260T>G (p.Phe420Leu)
c.1563T>G (p.Phe521Leu)
n.752T>G
c.1797T>G (p.Phe599Leu)
3g.33014137A>GCA2299333GLB1c.1653T>C (p.Phe551=)
c.1260T>C (p.Phe420=)
c.1563T>C (p.Phe521=)
n.752T>C
c.1797T>C (p.Phe599=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.33014137A>TCA351984433GLB1c.1653T>A (p.Phe551Leu)
c.1260T>A (p.Phe420Leu)
c.1563T>A (p.Phe521Leu)
n.752T>A
c.1797T>A (p.Phe599Leu)
3g.33014138A>CCA351984449GLB1c.1652T>G (p.Phe551Cys)
c.1259T>G (p.Phe420Cys)
c.1562T>G (p.Phe521Cys)
n.751T>G
c.1796T>G (p.Phe599Cys)
3g.33014138A>GCA351984455GLB1c.1652T>C (p.Phe551Ser)
c.1259T>C (p.Phe420Ser)
c.1562T>C (p.Phe521Ser)
n.751T>C
c.1796T>C (p.Phe599Ser)
3g.33014138A>TCA351984476GLB1c.1652T>A (p.Phe551Tyr)
c.1259T>A (p.Phe420Tyr)
c.1562T>A (p.Phe521Tyr)
n.751T>A
c.1796T>A (p.Phe599Tyr)
3g.33014139A=CA1355984300GLB1c.1651T= (p.Phe551=)
c.1258T= (p.Phe420=)
c.1561T= (p.Phe521=)
n.750T=
c.1795T= (p.Phe599=)
3g.33014139A>CCA351984482GLB1c.1651T>G (p.Phe551Val)
c.1258T>G (p.Phe420Val)
c.1561T>G (p.Phe521Val)
n.750T>G
c.1795T>G (p.Phe599Val)
3g.33014139A>GCA351984492GLB1c.1651T>C (p.Phe551Leu)
c.1258T>C (p.Phe420Leu)
c.1561T>C (p.Phe521Leu)
n.750T>C
c.1795T>C (p.Phe599Leu)
 dbSNP
3g.33014139A>TCA351984499GLB1c.1651T>A (p.Phe551Ile)
c.1258T>A (p.Phe420Ile)
c.1561T>A (p.Phe521Ile)
n.750T>A
c.1795T>A (p.Phe599Ile)
3g.33014140G>ACA432952606GLB1c.1650C>T (p.Ala550=)
c.1257C>T (p.Ala419=)
c.1560C>T (p.Ala520=)
n.749C>T
c.1794C>T (p.Ala598=)
 gnomAD v4
3g.33014140G>CCA432952607GLB1c.1650C>G (p.Ala550=)
c.1257C>G (p.Ala419=)
c.1560C>G (p.Ala520=)
n.749C>G
c.1794C>G (p.Ala598=)
 ClinVar dbSNP
3g.33014140G>TCA432952608GLB1c.1650C>A (p.Ala550=)
c.1257C>A (p.Ala419=)
c.1560C>A (p.Ala520=)
n.749C>A
c.1794C>A (p.Ala598=)
3g.33014141G>ACA351984504GLB1c.1649C>T (p.Ala550Val)
c.1256C>T (p.Ala419Val)
c.1559C>T (p.Ala520Val)
n.748C>T
c.1793C>T (p.Ala598Val)
3g.33014141G>CCA351984505GLB1c.1649C>G (p.Ala550Gly)
c.1256C>G (p.Ala419Gly)
c.1559C>G (p.Ala520Gly)
n.748C>G
c.1793C>G (p.Ala598Gly)
 gnomAD v4
3g.33014141G>TCA351984506GLB1c.1649C>A (p.Ala550Asp)
c.1256C>A (p.Ala419Asp)
c.1559C>A (p.Ala520Asp)
n.748C>A
c.1793C>A (p.Ala598Asp)
3g.33014142C>ACA351984511GLB1c.1648G>T (p.Ala550Ser)
c.1255G>T (p.Ala419Ser)
c.1558G>T (p.Ala520Ser)
n.747G>T
c.1792G>T (p.Ala598Ser)
 dbSNP gnomAD v2 gnomAD v4
3g.33014142C=CA1355984301GLB1c.1648G= (p.Ala550=)
c.1255G= (p.Ala419=)
c.1558G= (p.Ala520=)
n.747G=
c.1792G= (p.Ala598=)
3g.33014142C>GCA351984517GLB1c.1648G>C (p.Ala550Pro)
c.1255G>C (p.Ala419Pro)
c.1558G>C (p.Ala520Pro)
n.747G>C
c.1792G>C (p.Ala598Pro)
3g.33014142C>TCA351984526GLB1c.1648G>A (p.Ala550Thr)
c.1255G>A (p.Ala419Thr)
c.1558G>A (p.Ala520Thr)
n.747G>A
c.1792G>A (p.Ala598Thr)
3g.33014143C>ACA432952612GLB1c.1647G>T (p.Pro549=)
c.1254G>T (p.Pro418=)
c.1557G>T (p.Pro519=)
n.746G>T
n.899G>T
c.1791G>T (p.Pro597=)
3g.33014143C=CA1355984302GLB1c.1647G= (p.Pro549=)
c.1254G= (p.Pro418=)
c.1557G= (p.Pro519=)
n.746G=
n.899G=
c.1791G= (p.Pro597=)
3g.33014143C>GCA432952613GLB1c.1647G>C (p.Pro549=)
c.1254G>C (p.Pro418=)
c.1557G>C (p.Pro519=)
n.746G>C
n.899G>C
c.1791G>C (p.Pro597=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.33014143C>TCA2299334GLB1c.1647G>A (p.Pro549=)
c.1254G>A (p.Pro418=)
c.1557G>A (p.Pro519=)
n.746G>A
n.899G>A
c.1791G>A (p.Pro597=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33014144G>ACA2299335GLB1c.1646C>T (p.Pro549Leu)
c.1253C>T (p.Pro418Leu)
c.1556C>T (p.Pro519Leu)
n.745C>T
n.898C>T
c.1790C>T (p.Pro597Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33014144G>CCA351984538GLB1c.1646C>G (p.Pro549Arg)
c.1253C>G (p.Pro418Arg)
c.1556C>G (p.Pro519Arg)
n.745C>G
n.898C>G
c.1790C>G (p.Pro597Arg)
3g.33014144G=CA1355984303GLB1c.1646C= (p.Pro549=)
c.1253C= (p.Pro418=)
c.1556C= (p.Pro519=)
n.745C=
n.898C=
c.1790C= (p.Pro597=)
3g.33014144G>TCA351984539GLB1c.1646C>A (p.Pro549Gln)
c.1253C>A (p.Pro418Gln)
c.1556C>A (p.Pro519Gln)
n.745C>A
n.898C>A
c.1790C>A (p.Pro597Gln)
3g.33014145G>ACA351984554GLB1c.1645C>T (p.Pro549Ser)
c.1252C>T (p.Pro418Ser)
c.1555C>T (p.Pro519Ser)
n.744C>T
n.897C>T
c.1789C>T (p.Pro597Ser)
 ClinVar dbSNP gnomAD v4
3g.33014145G>CCA351984569GLB1c.1645C>G (p.Pro549Ala)
c.1252C>G (p.Pro418Ala)
c.1555C>G (p.Pro519Ala)
n.744C>G
n.897C>G
c.1789C>G (p.Pro597Ala)
3g.33014145G>TCA351984571GLB1c.1645C>A (p.Pro549Thr)
c.1252C>A (p.Pro418Thr)
c.1555C>A (p.Pro519Thr)
n.744C>A
n.897C>A
c.1789C>A (p.Pro597Thr)
3g.33014146G>ACA2299336GLB1c.1644C>T (p.Leu548=)
c.1251C>T (p.Leu417=)
c.1554C>T (p.Leu518=)
n.743C>T
n.896C>T
c.1788C>T (p.Leu596=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33014146G>CCA432952614GLB1c.1644C>G (p.Leu548=)
c.1251C>G (p.Leu417=)
c.1554C>G (p.Leu518=)
n.743C>G
n.896C>G
c.1788C>G (p.Leu596=)
 dbSNP gnomAD v3 gnomAD v4
3g.33014146G=CA1355984304GLB1c.1644C= (p.Leu548=)
c.1251C= (p.Leu417=)
c.1554C= (p.Leu518=)
n.743C=
n.896C=
c.1788C= (p.Leu596=)
3g.33014146G>TCA432952615GLB1c.1644C>A (p.Leu548=)
c.1251C>A (p.Leu417=)
c.1554C>A (p.Leu518=)
n.743C>A
n.896C>A
c.1788C>A (p.Leu596=)
3g.33014147A=CA1355984305GLB1c.1643T= (p.Leu548=)
c.1250T= (p.Leu417=)
c.1553T= (p.Leu518=)
n.742T=
n.895T=
c.1787T= (p.Leu596=)
3g.33014147A>CCA351984576GLB1c.1643T>G (p.Leu548Arg)
c.1250T>G (p.Leu417Arg)
c.1553T>G (p.Leu518Arg)
n.742T>G
n.895T>G
c.1787T>G (p.Leu596Arg)
3g.33014147A>GCA351984581GLB1c.1643T>C (p.Leu548Pro)
c.1250T>C (p.Leu417Pro)
c.1553T>C (p.Leu518Pro)
n.742T>C
n.895T>C
c.1787T>C (p.Leu596Pro)
3g.33014147A>TCA351984589GLB1c.1643T>A (p.Leu548His)
c.1250T>A (p.Leu417His)
c.1553T>A (p.Leu518His)
n.742T>A
n.895T>A
c.1787T>A (p.Leu596His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.33014148G>ACA2299337GLB1c.1642C>T (p.Leu548Phe)
c.1249C>T (p.Leu417Phe)
c.1552C>T (p.Leu518Phe)
n.741C>T
n.894C>T
c.1786C>T (p.Leu596Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.33014148G>CCA351985325GLB1c.1642C>G (p.Leu548Val)
c.1249C>G (p.Leu417Val)
c.1552C>G (p.Leu518Val)
n.741C>G
n.894C>G
c.1786C>G (p.Leu596Val)
3g.33014148G=CA1355984306GLB1c.1642C= (p.Leu548=)
c.1249C= (p.Leu417=)
c.1552C= (p.Leu518=)
n.741C=
n.894C=
c.1786C= (p.Leu596=)
3g.33014148G>TCA351985329GLB1c.1642C>A (p.Leu548Ile)
c.1249C>A (p.Leu417Ile)
c.1552C>A (p.Leu518Ile)
n.741C>A
n.894C>A
c.1786C>A (p.Leu596Ile)
3g.33014149C>ACA432952639GLB1c.1641G>T (p.Thr547=)
c.1248G>T (p.Thr416=)
c.1551G>T (p.Thr517=)
n.740G>T
n.893G>T
c.1785G>T (p.Thr595=)
 ClinVar dbSNP gnomAD v4
3g.33014149C=CA1355984307GLB1c.1641G= (p.Thr547=)
c.1248G= (p.Thr416=)
c.1551G= (p.Thr517=)
n.740G=
n.893G=
c.1785G= (p.Thr595=)
3g.33014149C>GCA432952640GLB1c.1641G>C (p.Thr547=)
c.1248G>C (p.Thr416=)
c.1551G>C (p.Thr517=)
n.740G>C
n.893G>C
c.1785G>C (p.Thr595=)
3g.33014149C>TCA2299338GLB1c.1641G>A (p.Thr547=)
c.1248G>A (p.Thr416=)
c.1551G>A (p.Thr517=)
n.740G>A
n.893G>A
c.1785G>A (p.Thr595=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.33014150G>ACA2299339GLB1c.1640C>T (p.Thr547Met)
c.1247C>T (p.Thr416Met)
c.1550C>T (p.Thr517Met)
n.739C>T
n.892C>T
c.1784C>T (p.Thr595Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33014150G>CCA351985365GLB1c.1640C>G (p.Thr547Arg)
c.1247C>G (p.Thr416Arg)
c.1550C>G (p.Thr517Arg)
n.739C>G
n.892C>G
c.1784C>G (p.Thr595Arg)
3g.33014150G=CA1355984308GLB1c.1640C= (p.Thr547=)
c.1247C= (p.Thr416=)
c.1550C= (p.Thr517=)
n.739C=
n.892C=
c.1784C= (p.Thr595=)
3g.33014150G>TCA351985356GLB1c.1640C>A (p.Thr547Lys)
c.1247C>A (p.Thr416Lys)
c.1550C>A (p.Thr517Lys)
n.739C>A
n.892C>A
c.1784C>A (p.Thr595Lys)
3g.33014151T>ACA351985368GLB1c.1639A>T (p.Thr547Ser)
c.1246A>T (p.Thr416Ser)
c.1549A>T (p.Thr517Ser)
n.738A>T
n.891A>T
c.1783A>T (p.Thr595Ser)
3g.33014151T>CCA351985369GLB1c.1639A>G (p.Thr547Ala)
c.1246A>G (p.Thr416Ala)
c.1549A>G (p.Thr517Ala)
n.738A>G
n.891A>G
c.1783A>G (p.Thr595Ala)
3g.33014151T>GCA2299340GLB1c.1639A>C (p.Thr547Pro)
c.1246A>C (p.Thr416Pro)
c.1549A>C (p.Thr517Pro)
n.738A>C
n.891A>C
c.1783A>C (p.Thr595Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.33014151T=CA1355984309GLB1c.1639A= (p.Thr547=)
c.1246A= (p.Thr416=)
c.1549A= (p.Thr517=)
n.738A=
n.891A=
c.1783A= (p.Thr595=)
3g.33014152G>ACA2299341GLB1c.1638C>T (p.Tyr546=)
c.1245C>T (p.Tyr415=)
c.1548C>T (p.Tyr516=)
n.737C>T
n.890C>T
c.1782C>T (p.Tyr594=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.33014152G>CCA351985375GLB1c.1638C>G (p.Tyr546Ter)
c.1245C>G (p.Tyr415Ter)
c.1548C>G (p.Tyr516Ter)
n.737C>G
n.890C>G
c.1782C>G (p.Tyr594Ter)
3g.33014152G=CA1355984310GLB1c.1638C= (p.Tyr546=)
c.1245C= (p.Tyr415=)
c.1548C= (p.Tyr516=)
n.737C=
n.890C=
c.1782C= (p.Tyr594=)
3g.33014152G>TCA351985379GLB1c.1638C>A (p.Tyr546Ter)
c.1245C>A (p.Tyr415Ter)
c.1548C>A (p.Tyr516Ter)
n.737C>A
n.890C>A
c.1782C>A (p.Tyr594Ter)
3g.33014153T>ACA351985395GLB1c.1637A>T (p.Tyr546Phe)
c.1244A>T (p.Tyr415Phe)
c.1547A>T (p.Tyr516Phe)
n.736A>T
n.889A>T
c.1781A>T (p.Tyr594Phe)
3g.33014153T>CCA351985387GLB1c.1637A>G (p.Tyr546Cys)
c.1244A>G (p.Tyr415Cys)
c.1547A>G (p.Tyr516Cys)
n.736A>G
n.889A>G
c.1781A>G (p.Tyr594Cys)
 dbSNP gnomAD v2 gnomAD v4
3g.33014153T>GCA351985391GLB1c.1637A>C (p.Tyr546Ser)
c.1244A>C (p.Tyr415Ser)
c.1547A>C (p.Tyr516Ser)
n.736A>C
n.889A>C
c.1781A>C (p.Tyr594Ser)
3g.33014153T=CA1355984311GLB1c.1637A= (p.Tyr546=)
c.1244A= (p.Tyr415=)
c.1547A= (p.Tyr516=)
n.736A=
n.889A=
c.1781A= (p.Tyr594=)
3g.33014154A>CCA351985400GLB1c.1636T>G (p.Tyr546Asp)
c.1243T>G (p.Tyr415Asp)
c.1546T>G (p.Tyr516Asp)
n.735T>G
n.888T>G
c.1780T>G (p.Tyr594Asp)
3g.33014154A>GCA351985405GLB1c.1636T>C (p.Tyr546His)
c.1243T>C (p.Tyr415His)
c.1546T>C (p.Tyr516His)
n.735T>C
n.888T>C
c.1780T>C (p.Tyr594His)
 gnomAD v4
3g.33014154A>TCA351985409GLB1c.1636T>A (p.Tyr546Asn)
c.1243T>A (p.Tyr415Asn)
c.1546T>A (p.Tyr516Asn)
n.735T>A
n.888T>A
c.1780T>A (p.Tyr594Asn)
3g.33014155G>ACA432952644GLB1c.1635C>T (p.Asn545=)
c.1242C>T (p.Asn414=)
c.1545C>T (p.Asn515=)
n.734C>T
n.887C>T
c.1779C>T (p.Asn593=)
 ClinVar
3g.33014155G>CCA351985413GLB1c.1635C>G (p.Asn545Lys)
c.1242C>G (p.Asn414Lys)
c.1545C>G (p.Asn515Lys)
n.734C>G
n.887C>G
c.1779C>G (p.Asn593Lys)
3g.33014155G=CA913189088GLB1c.1635C= (p.Asn545=)
c.1242C= (p.Asn414=)
c.1545C= (p.Asn515=)
n.734C=
n.887C=
c.1779C= (p.Asn593=)
3g.33014155G>TCA351985418GLB1c.1635C>A (p.Asn545Lys)
c.1242C>A (p.Asn414Lys)
c.1545C>A (p.Asn515Lys)
n.734C>A
n.887C>A
c.1779C>A (p.Asn593Lys)
3g.33014155dupCA913102738GLB1c.1635dup (p.Tyr546LeufsTer?)
c.1242dup (p.Tyr415LeufsTer?)
c.1545dup (p.Tyr516LeufsTer?)
n.734dup
n.887dup
c.1779dup (p.Tyr594LeufsTer?)
3g.33014156T>ACA351985425GLB1c.1634A>T (p.Asn545Ile)
c.1241A>T (p.Asn414Ile)
c.1544A>T (p.Asn515Ile)
n.733A>T
n.886A>T
c.1778A>T (p.Asn593Ile)
 gnomAD v4
3g.33014156T>CCA2299343GLB1c.1634A>G (p.Asn545Ser)
c.1241A>G (p.Asn414Ser)
c.1544A>G (p.Asn515Ser)
n.733A>G
n.886A>G
c.1778A>G (p.Asn593Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33014156T>GCA351985430GLB1c.1634A>C (p.Asn545Thr)
c.1241A>C (p.Asn414Thr)
c.1544A>C (p.Asn515Thr)
n.733A>C
n.886A>C
c.1778A>C (p.Asn593Thr)
3g.33014156T=CA1355984312GLB1c.1634A= (p.Asn545=)
c.1241A= (p.Asn414=)
c.1544A= (p.Asn515=)
n.733A=
n.886A=
c.1778A= (p.Asn593=)
3g.33014157dupCA2299342GLB1c.1634dup (p.Asn545LysfsTer?)
c.1241dup (p.Asn414LysfsTer?)
c.1544dup (p.Asn515LysfsTer?)
n.733dup
n.886dup
c.1778dup (p.Asn593LysfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33014157T>ACA351985444GLB1c.1633A>T (p.Asn545Tyr)
c.1240A>T (p.Asn414Tyr)
c.1543A>T (p.Asn515Tyr)
n.732A>T
n.885A>T
c.1777A>T (p.Asn593Tyr)
3g.33014157T>CCA72646256GLB1c.1633A>G (p.Asn545Asp)
c.1240A>G (p.Asn414Asp)
c.1543A>G (p.Asn515Asp)
n.732A>G
n.885A>G
c.1777A>G (p.Asn593Asp)
 dbSNP gnomAD v4
3g.33014157T>GCA351985455GLB1c.1633A>C (p.Asn545His)
c.1240A>C (p.Asn414His)
c.1543A>C (p.Asn515His)
n.732A>C
n.885A>C
c.1777A>C (p.Asn593His)
3g.33014157T=CA1355984313GLB1c.1633A= (p.Asn545=)
c.1240A= (p.Asn414=)
c.1543A= (p.Asn515=)
n.732A=
n.885A=
c.1777A= (p.Asn593=)
3g.33014158G>ACA432952648GLB1c.1632C>T (p.Ser544=)
c.1239C>T (p.Ser413=)
c.1542C>T (p.Ser514=)
n.731C>T
n.884C>T
c.1776C>T (p.Ser592=)
3g.33014158G>CCA432952649GLB1c.1632C>G (p.Ser544=)
c.1239C>G (p.Ser413=)
c.1542C>G (p.Ser514=)
n.731C>G
n.884C>G
c.1776C>G (p.Ser592=)
3g.33014158G>TCA432952650GLB1c.1632C>A (p.Ser544=)
c.1239C>A (p.Ser413=)
c.1542C>A (p.Ser514=)
n.731C>A
n.884C>A
c.1776C>A (p.Ser592=)
3g.33014159G>ACA351985460GLB1c.1631C>T (p.Ser544Phe)
c.1238C>T (p.Ser413Phe)
c.1541C>T (p.Ser514Phe)
n.730C>T
n.883C>T
c.1775C>T (p.Ser592Phe)
 dbSNP
3g.33014159G>CCA351985474GLB1c.1631C>G (p.Ser544Cys)
c.1238C>G (p.Ser413Cys)
c.1541C>G (p.Ser514Cys)
n.730C>G
n.883C>G
c.1775C>G (p.Ser592Cys)
3g.33014159G=CA1355984314GLB1c.1631C= (p.Ser544=)
c.1238C= (p.Ser413=)
c.1541C= (p.Ser514=)
n.730C=
n.883C=
c.1775C= (p.Ser592=)
3g.33014159G>TCA351985488GLB1c.1631C>A (p.Ser544Tyr)
c.1238C>A (p.Ser413Tyr)
c.1541C>A (p.Ser514Tyr)
n.730C>A
n.883C>A
c.1775C>A (p.Ser592Tyr)
3g.33014160A=CA1355984315GLB1c.1630T= (p.Ser544=)
c.1237T= (p.Ser413=)
c.1540T= (p.Ser514=)
n.729T=
n.882T=
c.1774T= (p.Ser592=)
3g.33014160A>CCA351985493GLB1c.1630T>G (p.Ser544Ala)
c.1237T>G (p.Ser413Ala)
c.1540T>G (p.Ser514Ala)
n.729T>G
n.882T>G
c.1774T>G (p.Ser592Ala)
3g.33014160A>GCA2299344GLB1c.1630T>C (p.Ser544Pro)
c.1237T>C (p.Ser413Pro)
c.1540T>C (p.Ser514Pro)
n.729T>C
n.882T>C
c.1774T>C (p.Ser592Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33014160A>TCA351985500GLB1c.1630T>A (p.Ser544Thr)
c.1237T>A (p.Ser413Thr)
c.1540T>A (p.Ser514Thr)
n.729T>A
n.882T>A
c.1774T>A (p.Ser592Thr)
3g.33014161T>ACA432952656GLB1c.1629A>T (p.Ser543=)
c.1236A>T (p.Ser412=)
c.1539A>T (p.Ser513=)
n.728A>T
n.881A>T
c.1773A>T (p.Ser591=)
3g.33014161T>CCA432952655GLB1c.1629A>G (p.Ser543=)
c.1236A>G (p.Ser412=)
c.1539A>G (p.Ser513=)
n.728A>G
n.881A>G
c.1773A>G (p.Ser591=)
 gnomAD v4
3g.33014161T>GCA432952654GLB1c.1629A>C (p.Ser543=)
c.1236A>C (p.Ser412=)
c.1539A>C (p.Ser513=)
n.728A>C
n.881A>C
c.1773A>C (p.Ser591=)
3g.33014162G>ACA351985513GLB1c.1628C>T (p.Ser543Leu)
c.1235C>T (p.Ser412Leu)
c.1538C>T (p.Ser513Leu)
n.727C>T
n.880C>T
c.1772C>T (p.Ser591Leu)
 COSMIC COSMIC
3g.33014162G>CCA351985516GLB1c.1628C>G (p.Ser543Ter)
c.1235C>G (p.Ser412Ter)
c.1538C>G (p.Ser513Ter)
n.727C>G
n.880C>G
c.1772C>G (p.Ser591Ter)
 gnomAD v4
3g.33014162G>TCA351985520GLB1c.1628C>A (p.Ser543Ter)
c.1235C>A (p.Ser412Ter)
c.1538C>A (p.Ser513Ter)
n.727C>A
n.880C>A
c.1772C>A (p.Ser591Ter)
3g.33014163A>CCA351985545GLB1c.1627T>G (p.Ser543Ala)
c.1234T>G (p.Ser412Ala)
c.1537T>G (p.Ser513Ala)
n.726T>G
n.879T>G
c.1771T>G (p.Ser591Ala)
3g.33014163A>GCA351985560GLB1c.1627T>C (p.Ser543Pro)
c.1234T>C (p.Ser412Pro)
c.1537T>C (p.Ser513Pro)
n.726T>C
n.879T>C
c.1771T>C (p.Ser591Pro)
3g.33014163A>TCA351985550GLB1c.1627T>A (p.Ser543Thr)
c.1234T>A (p.Ser412Thr)
c.1537T>A (p.Ser513Thr)
n.726T>A
n.879T>A
c.1771T>A (p.Ser591Thr)
3g.33014164G>ACA432952657GLB1c.1626C>T (p.Asn542=)
c.1233C>T (p.Asn411=)
c.1536C>T (p.Asn512=)
n.725C>T
n.878C>T
c.1770C>T (p.Asn590=)
3g.33014164G>CCA351985563GLB1c.1626C>G (p.Asn542Lys)
c.1233C>G (p.Asn411Lys)
c.1536C>G (p.Asn512Lys)
n.725C>G
n.878C>G
c.1770C>G (p.Asn590Lys)
3g.33014164G>TCA351985573GLB1c.1626C>A (p.Asn542Lys)
c.1233C>A (p.Asn411Lys)
c.1536C>A (p.Asn512Lys)
n.725C>A
n.878C>A
c.1770C>A (p.Asn590Lys)
3g.33014165T>ACA351985579GLB1c.1625A>T (p.Asn542Ile)
c.1232A>T (p.Asn411Ile)
c.1535A>T (p.Asn512Ile)
n.724A>T
n.877A>T
c.1769A>T (p.Asn590Ile)
3g.33014165T>CCA351985583GLB1c.1625A>G (p.Asn542Ser)
c.1232A>G (p.Asn411Ser)
c.1535A>G (p.Asn512Ser)
n.724A>G
n.877A>G
c.1769A>G (p.Asn590Ser)
 gnomAD v4
3g.33014165T>GCA351985589GLB1c.1625A>C (p.Asn542Thr)
c.1232A>C (p.Asn411Thr)
c.1535A>C (p.Asn512Thr)
n.724A>C
n.877A>C
c.1769A>C (p.Asn590Thr)
3g.33014166T>ACA351985590GLB1c.1624A>T (p.Asn542Tyr)
c.1231A>T (p.Asn411Tyr)
c.1534A>T (p.Asn512Tyr)
n.723A>T
n.876A>T
c.1768A>T (p.Asn590Tyr)
3g.33014166T>CCA351985591GLB1c.1624A>G (p.Asn542Asp)
c.1231A>G (p.Asn411Asp)
c.1534A>G (p.Asn512Asp)
n.723A>G
n.876A>G
c.1768A>G (p.Asn590Asp)
3g.33014166T>GCA351985592GLB1c.1624A>C (p.Asn542His)
c.1231A>C (p.Asn411His)
c.1534A>C (p.Asn512His)
n.723A>C
n.876A>C
c.1768A>C (p.Asn590His)
3g.33014167G>ACA432952660GLB1c.1623C>T (p.His541=)
c.1230C>T (p.His410=)
c.1533C>T (p.His511=)
n.722C>T
n.875C>T
c.1767C>T (p.His589=)
3g.33014167G>CCA351985594GLB1c.1623C>G (p.His541Gln)
c.1230C>G (p.His410Gln)
c.1533C>G (p.His511Gln)
n.722C>G
n.875C>G
c.1767C>G (p.His589Gln)
3g.33014167G>TCA351985598GLB1c.1623C>A (p.His541Gln)
c.1230C>A (p.His410Gln)
c.1533C>A (p.His511Gln)
n.722C>A
n.875C>A
c.1767C>A (p.His589Gln)
3g.33014168T>ACA351985600GLB1c.1622A>T (p.His541Leu)
c.1229A>T (p.His410Leu)
c.1532A>T (p.His511Leu)
n.721A>T
n.874A>T
c.1766A>T (p.His589Leu)
3g.33014168T>CCA351985601GLB1c.1622A>G (p.His541Arg)
c.1229A>G (p.His410Arg)
c.1532A>G (p.His511Arg)
n.721A>G
n.874A>G
c.1766A>G (p.His589Arg)
3g.33014168T>GCA351985605GLB1c.1622A>C (p.His541Pro)
c.1229A>C (p.His410Pro)
c.1532A>C (p.His511Pro)
n.721A>C
n.874A>C
c.1766A>C (p.His589Pro)
3g.33014169G>ACA72646267GLB1c.1621C>T (p.His541Tyr)
c.1228C>T (p.His410Tyr)
c.1531C>T (p.His511Tyr)
n.720C>T
n.873C>T
c.1765C>T (p.His589Tyr)
 dbSNP
3g.33014169G>CCA351985619GLB1c.1621C>G (p.His541Asp)
c.1228C>G (p.His410Asp)
c.1531C>G (p.His511Asp)
n.720C>G
n.873C>G
c.1765C>G (p.His589Asp)
3g.33014169G=CA1355984316GLB1c.1621C= (p.His541=)
c.1228C= (p.His410=)
c.1531C= (p.His511=)
n.720C=
n.873C=
c.1765C= (p.His589=)
3g.33014169G>TCA351985628GLB1c.1621C>A (p.His541Asn)
c.1228C>A (p.His410Asn)
c.1531C>A (p.His511Asn)
n.720C>A
n.873C>A
c.1765C>A (p.His589Asn)
3g.33014170G>ACA432952661GLB1c.1620C>T (p.Ala540=)
c.1227C>T (p.Ala409=)
c.1530C>T (p.Ala510=)
n.719C>T
n.872C>T
c.1764C>T (p.Ala588=)
 ClinVar dbSNP
3g.33014170G>CCA432952663GLB1c.1620C>G (p.Ala540=)
c.1227C>G (p.Ala409=)
c.1530C>G (p.Ala510=)
n.719C>G
n.872C>G
c.1764C>G (p.Ala588=)
3g.33014170G=CA1355984317GLB1c.1620C= (p.Ala540=)
c.1227C= (p.Ala409=)
c.1530C= (p.Ala510=)
n.719C=
n.872C=
c.1764C= (p.Ala588=)
3g.33014170G>TCA432952665GLB1c.1620C>A (p.Ala540=)
c.1227C>A (p.Ala409=)
c.1530C>A (p.Ala510=)
n.719C>A
n.872C>A
c.1764C>A (p.Ala588=)
3g.33014171G>ACA351985644GLB1c.1619C>T (p.Ala540Val)
c.1226C>T (p.Ala409Val)
c.1529C>T (p.Ala510Val)
n.718C>T
n.871C>T
c.1763C>T (p.Ala588Val)
 gnomAD v4
3g.33014171G>CCA351985648GLB1c.1619C>G (p.Ala540Gly)
c.1226C>G (p.Ala409Gly)
c.1529C>G (p.Ala510Gly)
n.718C>G
n.871C>G
c.1763C>G (p.Ala588Gly)
3g.33014171G>TCA351985651GLB1c.1619C>A (p.Ala540Asp)
c.1226C>A (p.Ala409Asp)
c.1529C>A (p.Ala510Asp)
n.718C>A
n.871C>A
c.1763C>A (p.Ala588Asp)
3g.33014172C>ACA351985652GLB1c.1618G>T (p.Ala540Ser)
c.1225G>T (p.Ala409Ser)
c.1528G>T (p.Ala510Ser)
n.717G>T
n.870G>T
c.1762G>T (p.Ala588Ser)
3g.33014172C=CA1355984318GLB1c.1618G= (p.Ala540=)
c.1225G= (p.Ala409=)
c.1528G= (p.Ala510=)
n.717G=
n.870G=
c.1762G= (p.Ala588=)
3g.33014172C>GCA351985653GLB1c.1618G>C (p.Ala540Pro)
c.1225G>C (p.Ala409Pro)
c.1528G>C (p.Ala510Pro)
n.717G>C
n.870G>C
c.1762G>C (p.Ala588Pro)
3g.33014172C>TCA2299345GLB1c.1618G>A (p.Ala540Thr)
c.1225G>A (p.Ala409Thr)
c.1528G>A (p.Ala510Thr)
n.717G>A
n.870G>A
c.1762G>A (p.Ala588Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33014173C>ACA351985663GLB1c.1617G>T (p.Trp539Cys)
c.1224G>T (p.Trp408Cys)
c.1527G>T (p.Trp509Cys)
n.716G>T
n.869G>T
c.1761G>T (p.Trp587Cys)
 gnomAD v4
3g.33014173C=CA1355984319GLB1c.1617G= (p.Trp539=)
c.1224G= (p.Trp408=)
c.1527G= (p.Trp509=)
n.716G=
n.869G=
c.1761G= (p.Trp587=)
3g.33014173C>GCA351985669GLB1c.1617G>C (p.Trp539Cys)
c.1224G>C (p.Trp408Cys)
c.1527G>C (p.Trp509Cys)
n.716G>C
n.869G>C
c.1761G>C (p.Trp587Cys)
3g.33014173C>TCA351985680GLB1c.1617G>A (p.Trp539Ter)
c.1224G>A (p.Trp408Ter)
c.1527G>A (p.Trp509Ter)
n.716G>A
n.869G>A
c.1761G>A (p.Trp587Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.33014174C>ACA351985687GLB1c.1616G>T (p.Trp539Leu)
c.1223G>T (p.Trp408Leu)
c.1526G>T (p.Trp509Leu)
n.715G>T
n.868G>T
c.1760G>T (p.Trp587Leu)
3g.33014174C>GCA351985690GLB1c.1616G>C (p.Trp539Ser)
c.1223G>C (p.Trp408Ser)
c.1526G>C (p.Trp509Ser)
n.715G>C
n.868G>C
c.1760G>C (p.Trp587Ser)
3g.33014174C>TCA351985696GLB1c.1616G>A (p.Trp539Ter)
c.1223G>A (p.Trp408Ter)
c.1526G>A (p.Trp509Ter)
n.715G>A
n.868G>A
c.1760G>A (p.Trp587Ter)
 ClinVar dbSNP
3g.33014175A>CCA351985698GLB1c.1615T>G (p.Trp539Gly)
c.1222T>G (p.Trp408Gly)
c.1525T>G (p.Trp509Gly)
n.714T>G
n.867T>G
c.1759T>G (p.Trp587Gly)
3g.33014175A>GCA351985702GLB1c.1615T>C (p.Trp539Arg)
c.1222T>C (p.Trp408Arg)
c.1525T>C (p.Trp509Arg)
n.714T>C
n.867T>C
c.1759T>C (p.Trp587Arg)
3g.33014175A>TCA351985697GLB1c.1615T>A (p.Trp539Arg)
c.1222T>A (p.Trp408Arg)
c.1525T>A (p.Trp509Arg)
n.714T>A
n.867T>A
c.1759T>A (p.Trp587Arg)
3g.33014176G>ACA432952669GLB1c.1614C>T (p.Ala538=)
c.1221C>T (p.Ala407=)
c.1524C>T (p.Ala508=)
n.713C>T
n.866C>T
c.1758C>T (p.Ala586=)
3g.33014176G>CCA432952670GLB1c.1614C>G (p.Ala538=)
c.1221C>G (p.Ala407=)
c.1524C>G (p.Ala508=)
n.713C>G
n.866C>G
c.1758C>G (p.Ala586=)
3g.33014176G>TCA432952668GLB1c.1614C>A (p.Ala538=)
c.1221C>A (p.Ala407=)
c.1524C>A (p.Ala508=)
n.713C>A
n.866C>A
c.1758C>A (p.Ala586=)
3g.33014177G>ACA351985710GLB1c.1613C>T (p.Ala538Val)
c.1220C>T (p.Ala407Val)
c.1523C>T (p.Ala508Val)
n.712C>T
n.865C>T
c.1757C>T (p.Ala586Val)
 gnomAD v4
3g.33014177G>CCA351985707GLB1c.1613C>G (p.Ala538Gly)
c.1220C>G (p.Ala407Gly)
c.1523C>G (p.Ala508Gly)
n.712C>G
n.865C>G
c.1757C>G (p.Ala586Gly)
3g.33014177G>TCA351985712GLB1c.1613C>A (p.Ala538Asp)
c.1220C>A (p.Ala407Asp)
c.1523C>A (p.Ala508Asp)
n.712C>A
n.865C>A
c.1757C>A (p.Ala586Asp)
3g.33014178C>ACA351985715GLB1c.1612G>T (p.Ala538Ser)
c.1219G>T (p.Ala407Ser)
c.1522G>T (p.Ala508Ser)
n.711G>T
n.864G>T
c.1756G>T (p.Ala586Ser)
3g.33014178C=CA1355984320GLB1c.1612G= (p.Ala538=)
c.1219G= (p.Ala407=)
c.1522G= (p.Ala508=)
n.711G=
n.864G=
c.1756G= (p.Ala586=)
3g.33014178C>GCA351985723GLB1c.1612G>C (p.Ala538Pro)
c.1219G>C (p.Ala407Pro)
c.1522G>C (p.Ala508Pro)
n.711G>C
n.864G>C
c.1756G>C (p.Ala586Pro)
3g.33014178C>TCA2299346GLB1c.1612G>A (p.Ala538Thr)
c.1219G>A (p.Ala407Thr)
c.1522G>A (p.Ala508Thr)
n.711G>A
n.864G>A
c.1756G>A (p.Ala586Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.33014179T>ACA351985728GLB1c.1611A>T (p.Glu537Asp)
c.1218A>T (p.Glu406Asp)
c.1521A>T (p.Glu507Asp)
n.710A>T
n.863A>T
c.1755A>T (p.Glu585Asp)
3g.33014179T>CCA432952672GLB1c.1611A>G (p.Glu537=)
c.1218A>G (p.Glu406=)
c.1521A>G (p.Glu507=)
n.710A>G
n.863A>G
c.1755A>G (p.Glu585=)
3g.33014179T>GCA351985730GLB1c.1611A>C (p.Glu537Asp)
c.1218A>C (p.Glu406Asp)
c.1521A>C (p.Glu507Asp)
n.710A>C
n.863A>C
c.1755A>C (p.Glu585Asp)
 gnomAD v4
3g.33014180T>ACA351985740GLB1c.1610A>T (p.Glu537Val)
c.1217A>T (p.Glu406Val)
c.1520A>T (p.Glu507Val)
n.709A>T
n.862A>T
c.1754A>T (p.Glu585Val)
3g.33014180T>CCA351985746GLB1c.1610A>G (p.Glu537Gly)
c.1217A>G (p.Glu406Gly)
c.1520A>G (p.Glu507Gly)
n.709A>G
n.862A>G
c.1754A>G (p.Glu585Gly)
3g.33014180T>GCA2299347GLB1c.1610A>C (p.Glu537Ala)
c.1217A>C (p.Glu406Ala)
c.1520A>C (p.Glu507Ala)
n.709A>C
n.862A>C
c.1754A>C (p.Glu585Ala)
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.33014180T=CA1355984321GLB1c.1610A= (p.Glu537=)
c.1217A= (p.Glu406=)
c.1520A= (p.Glu507=)
n.709A=
n.862A=
c.1754A= (p.Glu585=)
3g.33014181C>ACA351985769GLB1c.1609G>T (p.Glu537Ter)
c.1216G>T (p.Glu406Ter)
c.1519G>T (p.Glu507Ter)
n.708G>T
n.861G>T
c.1753G>T (p.Glu585Ter)
 ClinVar dbSNP
3g.33014181C=CA1355984322GLB1c.1609G= (p.Glu537=)
c.1216G= (p.Glu406=)
c.1519G= (p.Glu507=)
n.708G=
n.861G=
c.1753G= (p.Glu585=)
3g.33014181C>GCA351985774GLB1c.1609G>C (p.Glu537Gln)
c.1216G>C (p.Glu406Gln)
c.1519G>C (p.Glu507Gln)
n.708G>C
n.861G>C
c.1753G>C (p.Glu585Gln)
3g.33014181C>TCA351985779GLB1c.1609G>A (p.Glu537Lys)
c.1216G>A (p.Glu406Lys)
c.1519G>A (p.Glu507Lys)
n.708G>A
n.861G>A
c.1753G>A (p.Glu585Lys)
3g.33014182A>CCA351985787GLB1c.1608T>G (p.Asp536Glu)
c.1215T>G (p.Asp405Glu)
c.1518T>G (p.Asp506Glu)
n.707T>G
n.860T>G
c.1752T>G (p.Asp584Glu)
3g.33014182A>GCA432952673GLB1c.1608T>C (p.Asp536=)
c.1215T>C (p.Asp405=)
c.1518T>C (p.Asp506=)
n.707T>C
n.860T>C
c.1752T>C (p.Asp584=)
3g.33014182A>TCA351985791GLB1c.1608T>A (p.Asp536Glu)
c.1215T>A (p.Asp405Glu)
c.1518T>A (p.Asp506Glu)
n.707T>A
n.860T>A
c.1752T>A (p.Asp584Glu)
3g.33014183T>ACA351985792GLB1c.1607A>T (p.Asp536Val)
c.1214A>T (p.Asp405Val)
c.1517A>T (p.Asp506Val)
n.706A>T
n.859A>T
c.1751A>T (p.Asp584Val)
 dbSNP gnomAD v2 gnomAD v4
3g.33014183T>CCA351985793GLB1c.1607A>G (p.Asp536Gly)
c.1214A>G (p.Asp405Gly)
c.1517A>G (p.Asp506Gly)
n.706A>G
n.859A>G
c.1751A>G (p.Asp584Gly)
3g.33014183T>GCA351985800GLB1c.1607A>C (p.Asp536Ala)
c.1214A>C (p.Asp405Ala)
c.1517A>C (p.Asp506Ala)
n.706A>C
n.859A>C
c.1751A>C (p.Asp584Ala)
3g.33014183T=CA1355984323GLB1c.1607A= (p.Asp536=)
c.1214A= (p.Asp405=)
c.1517A= (p.Asp506=)
n.706A=
n.859A=
c.1751A= (p.Asp584=)
3g.33014184C>ACA2299348GLB1c.1606G>T (p.Asp536Tyr)
c.1213G>T (p.Asp405Tyr)
c.1516G>T (p.Asp506Tyr)
n.705G>T
n.858G>T
c.1750G>T (p.Asp584Tyr)
 dbSNP ExAC gnomAD v2
3g.33014184C=CA1355984324GLB1c.1606G= (p.Asp536=)
c.1213G= (p.Asp405=)
c.1516G= (p.Asp506=)
n.705G=
n.858G=
c.1750G= (p.Asp584=)
3g.33014184C>GCA351985812GLB1c.1606G>C (p.Asp536His)
c.1213G>C (p.Asp405His)
c.1516G>C (p.Asp506His)
n.705G>C
n.858G>C
c.1750G>C (p.Asp584His)
 dbSNP gnomAD v2 gnomAD v4
3g.33014184C>TCA351985811GLB1c.1606G>A (p.Asp536Asn)
c.1213G>A (p.Asp405Asn)
c.1516G>A (p.Asp506Asn)
n.705G>A
n.858G>A
c.1750G>A (p.Asp584Asn)
3g.33014185A=CA1355984325GLB1c.1605T= (p.His535=)
c.1212T= (p.His404=)
c.1515T= (p.His505=)
n.704T=
n.857T=
c.1749T= (p.His583=)
3g.33014185A>CCA351985816GLB1c.1605T>G (p.His535Gln)
c.1212T>G (p.His404Gln)
c.1515T>G (p.His505Gln)
n.704T>G
n.857T>G
c.1749T>G (p.His583Gln)
3g.33014185A>GCA432952675GLB1c.1605T>C (p.His535=)
c.1212T>C (p.His404=)
c.1515T>C (p.His505=)
n.704T>C
n.857T>C
c.1749T>C (p.His583=)
 ClinVar dbSNP gnomAD v4
3g.33014185A>TCA351985820GLB1c.1605T>A (p.His535Gln)
c.1212T>A (p.His404Gln)
c.1515T>A (p.His505Gln)
n.704T>A
n.857T>A
c.1749T>A (p.His583Gln)
 dbSNP gnomAD v3 gnomAD v4
3g.33014185_33014188delinsATGGCA1355984326GLB1c.1602_1605delinsCCAT (p.His534=)
c.1209_1212delinsCCAT (p.His403=)
c.1512_1515delinsCCAT (p.His504=)
n.701_704delinsCCAT
n.854_857delinsCCAT
c.1746_1749delinsCCAT (p.His582=)
3g.33014186T>ACA351985823GLB1c.1604A>T (p.His535Leu)
c.1211A>T (p.His404Leu)
c.1514A>T (p.His505Leu)
n.703A>T
n.856A>T
c.1748A>T (p.His583Leu)
3g.33014186T>CCA351985825GLB1c.1604A>G (p.His535Arg)
c.1211A>G (p.His404Arg)
c.1514A>G (p.His505Arg)
n.703A>G
n.856A>G
c.1748A>G (p.His583Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.33014186T>GCA351985831GLB1c.1604A>C (p.His535Pro)
c.1211A>C (p.His404Pro)
c.1514A>C (p.His505Pro)
n.703A>C
n.856A>C
c.1748A>C (p.His583Pro)
3g.33014186T=CA1355984328GLB1c.1604A= (p.His535=)
c.1211A= (p.His404=)
c.1514A= (p.His505=)
n.703A=
n.856A=
c.1748A= (p.His583=)
3g.33014189_33014191delCA1355984327GLB1c.1602_1604del (p.His535del)
c.1209_1211del (p.His404del)
c.1512_1514del (p.His505del)
n.701_703del
n.854_856del
c.1746_1748del (p.His583del)
 dbSNP gnomAD v4
3g.33014187G>ACA351985841GLB1c.1603C>T (p.His535Tyr)
c.1210C>T (p.His404Tyr)
c.1513C>T (p.His505Tyr)
n.702C>T
n.855C>T
c.1747C>T (p.His583Tyr)
3g.33014187G>CCA10616128GLB1c.1603C>G (p.His535Asp)
c.1210C>G (p.His404Asp)
c.1513C>G (p.His505Asp)
n.702C>G
n.855C>G
c.1747C>G (p.His583Asp)
 ClinVar dbSNP gnomAD v4
3g.33014187G=CA1355984329GLB1c.1603C= (p.His535=)
c.1210C= (p.His404=)
c.1513C= (p.His505=)
n.702C=
n.855C=
c.1747C= (p.His583=)
3g.33014187G>TCA351985843GLB1c.1603C>A (p.His535Asn)
c.1210C>A (p.His404Asn)
c.1513C>A (p.His505Asn)
n.702C>A
n.855C>A
c.1747C>A (p.His583Asn)
3g.33014191_33014205delCA2664923425GLB1c.1589_1603del (p.Arg530_His534del)
c.1196_1210del (p.Arg399_His403del)
c.1499_1513del (p.Arg500_His504del)
n.688_702del
n.841_855del
c.1733_1747del (p.Arg578_His582del)
 gnomAD v4
3g.33014188G>ACA432952679GLB1c.1602C>T (p.His534=)
c.1209C>T (p.His403=)
c.1512C>T (p.His504=)
n.701C>T
n.854C>T
c.1746C>T (p.His582=)
 ClinVar
3g.33014188G>CCA351985847GLB1c.1602C>G (p.His534Gln)
c.1209C>G (p.His403Gln)
c.1512C>G (p.His504Gln)
n.701C>G
n.854C>G
c.1746C>G (p.His582Gln)
3g.33014188G=CA1355984330GLB1c.1602C= (p.His534=)
c.1209C= (p.His403=)
c.1512C= (p.His504=)
n.701C=
n.854C=
c.1746C= (p.His582=)
3g.33014188G>TCA351985864GLB1c.1602C>A (p.His534Gln)
c.1209C>A (p.His403Gln)
c.1512C>A (p.His504Gln)
n.701C>A
n.854C>A
c.1746C>A (p.His582Gln)
3g.33014189T>ACA351985874GLB1c.1601A>T (p.His534Leu)
c.1208A>T (p.His403Leu)
c.1511A>T (p.His504Leu)
n.700A>T
n.853A>T
c.1745A>T (p.His582Leu)
3g.33014189T>CCA2299349GLB1c.1601A>G (p.His534Arg)
c.1208A>G (p.His403Arg)
c.1511A>G (p.His504Arg)
n.700A>G
n.853A>G
c.1745A>G (p.His582Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33014189T>GCA351985865GLB1c.1601A>C (p.His534Pro)
c.1208A>C (p.His403Pro)
c.1511A>C (p.His504Pro)
n.700A>C
n.853A>C
c.1745A>C (p.His582Pro)
 dbSNP gnomAD v2 gnomAD v4
3g.33014189T=CA1355984331GLB1c.1601A= (p.His534=)
c.1208A= (p.His403=)
c.1511A= (p.His504=)
n.700A=
n.853A=
c.1745A= (p.His582=)
3g.33014189_33014192dupCA542612826GLB1c.1598_1601dup (p.His534GlnfsTer4)
c.1205_1208dup (p.His403GlnfsTer4)
c.1508_1511dup (p.His504GlnfsTer4)
n.697_700dup
n.850_853dup
c.1742_1745dup (p.His582GlnfsTer4)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.33014190G>ACA351985885GLB1c.1600C>T (p.His534Tyr)
c.1207C>T (p.His403Tyr)
c.1510C>T (p.His504Tyr)
n.699C>T
n.852C>T
c.1744C>T (p.His582Tyr)
3g.33014190G>CCA351985887GLB1c.1600C>G (p.His534Asp)
c.1207C>G (p.His403Asp)
c.1510C>G (p.His504Asp)
n.699C>G
n.852C>G
c.1744C>G (p.His582Asp)
3g.33014190G>TCA351985888GLB1c.1600C>A (p.His534Asn)
c.1207C>A (p.His403Asn)
c.1510C>A (p.His504Asn)
n.699C>A
n.852C>A
c.1744C>A (p.His582Asn)
3g.33014191G>ACA432952680GLB1c.1599C>T (p.Gly533=)
c.1206C>T (p.Gly402=)
c.1509C>T (p.Gly503=)
n.698C>T
n.851C>T
c.1743C>T (p.Gly581=)
3g.33014191G>CCA432952681GLB1c.1599C>G (p.Gly533=)
c.1206C>G (p.Gly402=)
c.1509C>G (p.Gly503=)
n.698C>G
n.851C>G
c.1743C>G (p.Gly581=)
3g.33014191G=CA1355984332GLB1c.1599C= (p.Gly533=)
c.1206C= (p.Gly402=)
c.1509C= (p.Gly503=)
n.698C=
n.851C=
c.1743C= (p.Gly581=)
3g.33014191G>TCA2299350GLB1c.1599C>A (p.Gly533=)
c.1206C>A (p.Gly402=)
c.1509C>A (p.Gly503=)
n.698C>A
n.851C>A
c.1743C>A (p.Gly581=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.33014192C>ACA351985890GLB1c.1598G>T (p.Gly533Val)
c.1205G>T (p.Gly402Val)
c.1508G>T (p.Gly503Val)
n.697G>T
n.850G>T
c.1742G>T (p.Gly581Val)
 gnomAD v4
3g.33014192C>GCA351985895GLB1c.1598G>C (p.Gly533Ala)
c.1205G>C (p.Gly402Ala)
c.1508G>C (p.Gly503Ala)
n.697G>C
n.850G>C
c.1742G>C (p.Gly581Ala)
3g.33014192C>TCA351985898GLB1c.1598G>A (p.Gly533Asp)
c.1205G>A (p.Gly402Asp)
c.1508G>A (p.Gly503Asp)
n.697G>A
n.850G>A
c.1742G>A (p.Gly581Asp)
3g.33014193C>ACA351985901GLB1c.1597G>T (p.Gly533Cys)
c.1204G>T (p.Gly402Cys)
c.1507G>T (p.Gly503Cys)
n.696G>T
n.849G>T
c.1741G>T (p.Gly581Cys)
3g.33014193C>GCA351985907GLB1c.1597G>C (p.Gly533Arg)
c.1204G>C (p.Gly402Arg)
c.1507G>C (p.Gly503Arg)
n.696G>C
n.849G>C
c.1741G>C (p.Gly581Arg)
3g.33014193C>TCA351985912GLB1c.1597G>A (p.Gly533Ser)
c.1204G>A (p.Gly402Ser)
c.1507G>A (p.Gly503Ser)
n.696G>A
n.849G>A
c.1741G>A (p.Gly581Ser)
3g.33014194A>CCA351985917GLB1c.1596T>G (p.Ser532Arg)
c.1203T>G (p.Ser401Arg)
c.1506T>G (p.Ser502Arg)
n.695T>G
n.848T>G
c.1740T>G (p.Ser580Arg)
3g.33014194A>GCA432952683GLB1c.1596T>C (p.Ser532=)
c.1203T>C (p.Ser401=)
c.1506T>C (p.Ser502=)
n.695T>C
n.848T>C
c.1740T>C (p.Ser580=)
3g.33014194A>TCA351985922GLB1c.1596T>A (p.Ser532Arg)
c.1203T>A (p.Ser401Arg)
c.1506T>A (p.Ser502Arg)
n.695T>A
n.848T>A
c.1740T>A (p.Ser580Arg)
3g.33014195C>ACA351985929GLB1c.1595G>T (p.Ser532Ile)
c.1202G>T (p.Ser401Ile)
c.1505G>T (p.Ser502Ile)
n.694G>T
n.847G>T
c.1739G>T (p.Ser580Ile)
3g.33014195C>GCA351985927GLB1c.1595G>C (p.Ser532Thr)
c.1202G>C (p.Ser401Thr)
c.1505G>C (p.Ser502Thr)
n.694G>C
n.847G>C
c.1739G>C (p.Ser580Thr)
3g.33014195C>TCA351985925GLB1c.1595G>A (p.Ser532Asn)
c.1202G>A (p.Ser401Asn)
c.1505G>A (p.Ser502Asn)
n.694G>A
n.847G>A
c.1739G>A (p.Ser580Asn)
3g.33014196T>ACA72646349GLB1c.1594A>T (p.Ser532Cys)
c.1201A>T (p.Ser401Cys)
c.1504A>T (p.Ser502Cys)
n.693A>T
n.846A>T
c.1738A>T (p.Ser580Cys)
 dbSNP
3g.33014196T>CCA146073GLB1c.1594A>G (p.Ser532Gly)
c.1201A>G (p.Ser401Gly)
c.1504A>G (p.Ser502Gly)
n.693A>G
n.846A>G
c.1738A>G (p.Ser580Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33014196T>GCA351985944GLB1c.1594A>C (p.Ser532Arg)
c.1201A>C (p.Ser401Arg)
c.1504A>C (p.Ser502Arg)
n.693A>C
n.846A>C
c.1738A>C (p.Ser580Arg)
3g.33014196T=CA1355984333GLB1c.1594A= (p.Ser532=)
c.1201A= (p.Ser401=)
c.1504A= (p.Ser502=)
n.693A=
n.846A=
c.1738A= (p.Ser580=)
3g.33014196_33014197delinsCACA2573136202GLB1c.1593_1594delinsTG (p.Ser532Gly)
c.1200_1201delinsTG (p.Ser401Gly)
c.1503_1504delinsTG (p.Ser502Gly)
n.692_693delinsTG
n.845_846delinsTG
c.1737_1738delinsTG (p.Ser580Gly)
 ClinVar
3g.33014197G>ACA2299351GLB1c.1593C>T (p.Asp531=)
c.1200C>T (p.Asp400=)
c.1503C>T (p.Asp501=)
n.692C>T
n.845C>T
c.1737C>T (p.Asp579=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33014197G>CCA351985950GLB1c.1593C>G (p.Asp531Glu)
c.1200C>G (p.Asp400Glu)
c.1503C>G (p.Asp501Glu)
n.692C>G
n.845C>G
c.1737C>G (p.Asp579Glu)
3g.33014197G=CA1355984334GLB1c.1593C= (p.Asp531=)
c.1200C= (p.Asp400=)
c.1503C= (p.Asp501=)
n.692C=
n.845C=
c.1737C= (p.Asp579=)
3g.33014197G>TCA351985957GLB1c.1593C>A (p.Asp531Glu)
c.1200C>A (p.Asp400Glu)
c.1503C>A (p.Asp501Glu)
n.692C>A
n.845C>A
c.1737C>A (p.Asp579Glu)
3g.33014198T>ACA351985964GLB1c.1592A>T (p.Asp531Val)
c.1199A>T (p.Asp400Val)
c.1502A>T (p.Asp501Val)
n.691A>T
n.844A>T
c.1736A>T (p.Asp579Val)
3g.33014198T>CCA351985981GLB1c.1592A>G (p.Asp531Gly)
c.1199A>G (p.Asp400Gly)
c.1502A>G (p.Asp501Gly)
n.691A>G
n.844A>G
c.1736A>G (p.Asp579Gly)
 gnomAD v4
3g.33014198T>GCA351985983GLB1c.1592A>C (p.Asp531Ala)
c.1199A>C (p.Asp400Ala)
c.1502A>C (p.Asp501Ala)
n.691A>C
n.844A>C
c.1736A>C (p.Asp579Ala)
 gnomAD v4
3g.33014199C>ACA351985991GLB1c.1591G>T (p.Asp531Tyr)
c.1198G>T (p.Asp400Tyr)
c.1501G>T (p.Asp501Tyr)
n.690G>T
n.843G>T
c.1735G>T (p.Asp579Tyr)
3g.33014199C=CA1355984335GLB1c.1591G= (p.Asp531=)
c.1198G= (p.Asp400=)
c.1501G= (p.Asp501=)
n.690G=
n.843G=
c.1735G= (p.Asp579=)
3g.33014199C>GCA351985992GLB1c.1591G>C (p.Asp531His)
c.1198G>C (p.Asp400His)
c.1501G>C (p.Asp501His)
n.690G>C
n.843G>C
c.1735G>C (p.Asp579His)
3g.33014199C>TCA351985994GLB1c.1591G>A (p.Asp531Asn)
c.1198G>A (p.Asp400Asn)
c.1501G>A (p.Asp501Asn)
n.690G>A
n.843G>A
c.1735G>A (p.Asp579Asn)
 dbSNP gnomAD v3 gnomAD v4
3g.33014200A>CCA432952685GLB1c.1590T>G (p.Arg530=)
c.1197T>G (p.Arg399=)
c.1500T>G (p.Arg500=)
n.689T>G
n.842T>G
c.1734T>G (p.Arg578=)
3g.33014200A>GCA432952686GLB1c.1590T>C (p.Arg530=)
c.1197T>C (p.Arg399=)
c.1500T>C (p.Arg500=)
n.689T>C
n.842T>C
c.1734T>C (p.Arg578=)
3g.33014200A>TCA432952687GLB1c.1590T>A (p.Arg530=)
c.1197T>A (p.Arg399=)
c.1500T>A (p.Arg500=)
n.689T>A
n.842T>A
c.1734T>A (p.Arg578=)
3g.33014200_33014203dupCA2573136203GLB1c.1587_1590dup (p.Asp531ProfsTer2)
c.1194_1197dup (p.Asp400ProfsTer2)
c.1497_1500dup (p.Asp501ProfsTer2)
n.686_689dup
n.839_842dup
c.1731_1734dup (p.Asp579ProfsTer2)
 ClinVar dbSNP
3g.33014201C>ACA351986009GLB1c.1589G>T (p.Arg530Leu)
c.1196G>T (p.Arg399Leu)
c.1499G>T (p.Arg500Leu)
n.688G>T
n.841G>T
c.1733G>T (p.Arg578Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.33014201C=CA1355984336GLB1c.1589G= (p.Arg530=)
c.1196G= (p.Arg399=)
c.1499G= (p.Arg500=)
n.688G=
n.841G=
c.1733G= (p.Arg578=)
3g.33014201C>GCA351986005GLB1c.1589G>C (p.Arg530Pro)
c.1196G>C (p.Arg399Pro)
c.1499G>C (p.Arg500Pro)
n.688G>C
n.841G>C
c.1733G>C (p.Arg578Pro)
3g.33014201C>TCA72646376GLB1c.1589G>A (p.Arg530His)
c.1196G>A (p.Arg399His)
c.1499G>A (p.Arg500His)
n.688G>A
n.841G>A
c.1733G>A (p.Arg578His)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
3g.33014202G>ACA2299352GLB1c.1588C>T (p.Arg530Cys)
c.1195C>T (p.Arg399Cys)
c.1498C>T (p.Arg500Cys)
n.687C>T
n.840C>T
c.1732C>T (p.Arg578Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33014202G>CCA351986020GLB1c.1588C>G (p.Arg530Gly)
c.1195C>G (p.Arg399Gly)
c.1498C>G (p.Arg500Gly)
n.687C>G
n.840C>G
c.1732C>G (p.Arg578Gly)
 dbSNP gnomAD v2 gnomAD v4
3g.33014202G=CA1355984337GLB1c.1588C= (p.Arg530=)
c.1195C= (p.Arg399=)
c.1498C= (p.Arg500=)
n.687C=
n.840C=
c.1732C= (p.Arg578=)
3g.33014202G>TCA351986021GLB1c.1588C>A (p.Arg530Ser)
c.1195C>A (p.Arg399Ser)
c.1498C>A (p.Arg500Ser)
n.687C>A
n.840C>A
c.1732C>A (p.Arg578Ser)
3g.33014203G>ACA432952690GLB1c.1587C>T (p.His529=)
c.1194C>T (p.His398=)
c.1497C>T (p.His499=)
n.686C>T
n.839C>T
c.1731C>T (p.His577=)
3g.33014203G>CCA351986022GLB1c.1587C>G (p.His529Gln)
c.1194C>G (p.His398Gln)
c.1497C>G (p.His499Gln)
n.686C>G
n.839C>G
c.1731C>G (p.His577Gln)
3g.33014203G>TCA351986024GLB1c.1587C>A (p.His529Gln)
c.1194C>A (p.His398Gln)
c.1497C>A (p.His499Gln)
n.686C>A
n.839C>A
c.1731C>A (p.His577Gln)
3g.33014204T>ACA351986032GLB1c.1586A>T (p.His529Leu)
c.1193A>T (p.His398Leu)
c.1496A>T (p.His499Leu)
n.685A>T
n.838A>T
c.1730A>T (p.His577Leu)
3g.33014204T>CCA351986034GLB1c.1586A>G (p.His529Arg)
c.1193A>G (p.His398Arg)
c.1496A>G (p.His499Arg)
n.685A>G
n.838A>G
c.1730A>G (p.His577Arg)
 gnomAD v4
3g.33014204T>GCA351986036GLB1c.1586A>C (p.His529Pro)
c.1193A>C (p.His398Pro)
c.1496A>C (p.His499Pro)
n.685A>C
n.838A>C
c.1730A>C (p.His577Pro)
3g.33014205G>ACA351986041GLB1c.1585C>T (p.His529Tyr)
c.1192C>T (p.His398Tyr)
c.1495C>T (p.His499Tyr)
n.684C>T
n.837C>T
c.1729C>T (p.His577Tyr)
 ClinVar gnomAD v4
3g.33014205G>CCA351986043GLB1c.1585C>G (p.His529Asp)
c.1192C>G (p.His398Asp)
c.1495C>G (p.His499Asp)
n.684C>G
n.837C>G
c.1729C>G (p.His577Asp)
3g.33014205G>TCA351986042GLB1c.1585C>A (p.His529Asn)
c.1192C>A (p.His398Asn)
c.1495C>A (p.His499Asn)
n.684C>A
n.837C>A
c.1729C>A (p.His577Asn)
3g.33014206T>ACA432952693GLB1c.1584A>T (p.Gly528=)
c.1191A>T (p.Gly397=)
c.1494A>T (p.Gly498=)
n.683A>T
n.836A>T
c.1728A>T (p.Gly576=)
3g.33014206T>CCA2299353GLB1c.1584A>G (p.Gly528=)
c.1191A>G (p.Gly397=)
c.1494A>G (p.Gly498=)
n.683A>G
n.836A>G
c.1728A>G (p.Gly576=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.33014206T>GCA432952694GLB1c.1584A>C (p.Gly528=)
c.1191A>C (p.Gly397=)
c.1494A>C (p.Gly498=)
n.683A>C
n.836A>C
c.1728A>C (p.Gly576=)
 ClinVar
3g.33014206T=CA1355984338GLB1c.1584A= (p.Gly528=)
c.1191A= (p.Gly397=)
c.1494A= (p.Gly498=)
n.683A=
n.836A=
c.1728A= (p.Gly576=)
3g.33014207C>ACA351986047GLB1c.1583G>T (p.Gly528Val)
c.1190G>T (p.Gly397Val)
c.1493G>T (p.Gly498Val)
n.682G>T
n.835G>T
c.1727G>T (p.Gly576Val)
3g.33014207C>GCA351986049GLB1c.1583G>C (p.Gly528Ala)
c.1190G>C (p.Gly397Ala)
c.1493G>C (p.Gly498Ala)
n.682G>C
n.835G>C
c.1727G>C (p.Gly576Ala)
3g.33014207C>TCA351986057GLB1c.1583G>A (p.Gly528Glu)
c.1190G>A (p.Gly397Glu)
c.1493G>A (p.Gly498Glu)
n.682G>A
n.835G>A
c.1727G>A (p.Gly576Glu)
 gnomAD v4
3g.33014210delCA2740094317GLB1c.1583del (p.Gly528AspfsTer?)
c.1190del (p.Gly397AspfsTer?)
c.1493del (p.Gly498AspfsTer?)
n.682del
n.835del
c.1727del (p.Gly576AspfsTer?)
 ClinVar
3g.33014209_33014218delCA2573136204GLB1c.1574_1583del (p.Gly525AspfsTer?)
c.1181_1190del (p.Gly394AspfsTer?)
c.1484_1493del (p.Gly495AspfsTer?)
n.673_682del
n.826_835del
c.1718_1727del (p.Gly573AspfsTer?)
 ClinVar dbSNP
3g.33014213_33014220dupCA2573136205GLB1c.1576_1583dup (p.His529AlafsTer?)
c.1183_1190dup (p.His398AlafsTer?)
c.1486_1493dup (p.His499AlafsTer?)
n.675_682dup
n.828_835dup
c.1720_1727dup (p.His577AlafsTer?)
 ClinVar dbSNP

Number of alleles fetched