Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.33014057T>ACA351983532GLB1c.1733A>T (p.Lys578Met)
c.1340A>T (p.Lys447Met)
c.1643A>T (p.Lys548Met)
c.1877A>T (p.Lys626Met)
3g.33014057T>CCA2299321GLB1c.1733A>G (p.Lys578Arg)
c.1340A>G (p.Lys447Arg)
c.1643A>G (p.Lys548Arg)
c.1877A>G (p.Lys626Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33014057T>GCA351983534GLB1c.1733A>C (p.Lys578Thr)
c.1340A>C (p.Lys447Thr)
c.1643A>C (p.Lys548Thr)
c.1877A>C (p.Lys626Thr)
3g.33014057T=CA1355984263GLB1c.1733A= (p.Lys578=)
c.1340A= (p.Lys447=)
c.1643A= (p.Lys548=)
c.1877A= (p.Lys626=)
3g.33014058T>ACA351983536GLB1c.1732A>T (p.Lys578Ter)
c.1339A>T (p.Lys447Ter)
c.1642A>T (p.Lys548Ter)
c.1876A>T (p.Lys626Ter)
3g.33014058T>CCA2299322GLB1c.1732A>G (p.Lys578Glu)
c.1339A>G (p.Lys447Glu)
c.1642A>G (p.Lys548Glu)
c.1876A>G (p.Lys626Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.33014058T>GCA351983537GLB1c.1732A>C (p.Lys578Gln)
c.1339A>C (p.Lys447Gln)
c.1642A>C (p.Lys548Gln)
c.1876A>C (p.Lys626Gln)
 ClinVar dbSNP
3g.33014058T=CA1355984264GLB1c.1732A= (p.Lys578=)
c.1339A= (p.Lys447=)
c.1642A= (p.Lys548=)
c.1876A= (p.Lys626=)
3g.33014059G>ACA432952512GLB1c.1731C>T (p.Thr577=)
c.1338C>T (p.Thr446=)
c.1641C>T (p.Thr547=)
c.1875C>T (p.Thr625=)
 dbSNP
3g.33014059G>CCA432952514GLB1c.1731C>G (p.Thr577=)
c.1338C>G (p.Thr446=)
c.1641C>G (p.Thr547=)
c.1875C>G (p.Thr625=)
3g.33014059G=CA1355984265GLB1c.1731C= (p.Thr577=)
c.1338C= (p.Thr446=)
c.1641C= (p.Thr547=)
c.1875C= (p.Thr625=)
3g.33014059G>TCA432952511GLB1c.1731C>A (p.Thr577=)
c.1338C>A (p.Thr446=)
c.1641C>A (p.Thr547=)
c.1875C>A (p.Thr625=)
 gnomAD v4
3g.33014060G>ACA351983542GLB1c.1730C>T (p.Thr577Ile)
c.1337C>T (p.Thr446Ile)
c.1640C>T (p.Thr547Ile)
c.1874C>T (p.Thr625Ile)
3g.33014060G>CCA351983544GLB1c.1730C>G (p.Thr577Ser)
c.1337C>G (p.Thr446Ser)
c.1640C>G (p.Thr547Ser)
c.1874C>G (p.Thr625Ser)
3g.33014060G=CA1355984266GLB1c.1730C= (p.Thr577=)
c.1337C= (p.Thr446=)
c.1640C= (p.Thr547=)
c.1874C= (p.Thr625=)
3g.33014060G>TCA72646019GLB1c.1730C>A (p.Thr577Asn)
c.1337C>A (p.Thr446Asn)
c.1640C>A (p.Thr547Asn)
c.1874C>A (p.Thr625Asn)
 dbSNP gnomAD v4
3g.33014061T>ACA351983549GLB1c.1729A>T (p.Thr577Ser)
c.1336A>T (p.Thr446Ser)
c.1639A>T (p.Thr547Ser)
c.1873A>T (p.Thr625Ser)
3g.33014061T>CCA351983552GLB1c.1729A>G (p.Thr577Ala)
c.1336A>G (p.Thr446Ala)
c.1639A>G (p.Thr547Ala)
c.1873A>G (p.Thr625Ala)
 gnomAD v4
3g.33014061T>GCA351983553GLB1c.1729A>C (p.Thr577Pro)
c.1336A>C (p.Thr446Pro)
c.1639A>C (p.Thr547Pro)
c.1873A>C (p.Thr625Pro)
3g.33014062C>ACA351983557GLB1c.1728G>T (p.Trp576Cys)
c.1335G>T (p.Trp445Cys)
c.1638G>T (p.Trp546Cys)
c.1872G>T (p.Trp624Cys)
3g.33014062C>GCA351983558GLB1c.1728G>C (p.Trp576Cys)
c.1335G>C (p.Trp445Cys)
c.1638G>C (p.Trp546Cys)
c.1872G>C (p.Trp624Cys)
3g.33014062C>TCA351983561GLB1c.1728G>A (p.Trp576Ter)
c.1335G>A (p.Trp445Ter)
c.1638G>A (p.Trp546Ter)
c.1872G>A (p.Trp624Ter)
 ClinVar
3g.33014063C>ACA351983564GLB1c.1727G>T (p.Trp576Leu)
c.1334G>T (p.Trp445Leu)
c.1637G>T (p.Trp546Leu)
c.1871G>T (p.Trp624Leu)
3g.33014063C>GCA351983568GLB1c.1727G>C (p.Trp576Ser)
c.1334G>C (p.Trp445Ser)
c.1637G>C (p.Trp546Ser)
c.1871G>C (p.Trp624Ser)
3g.33014063C>TCA351983569GLB1c.1727G>A (p.Trp576Ter)
c.1334G>A (p.Trp445Ter)
c.1637G>A (p.Trp546Ter)
c.1871G>A (p.Trp624Ter)
3g.33014064A>CCA351983572GLB1c.1726T>G (p.Trp576Gly)
c.1333T>G (p.Trp445Gly)
c.1636T>G (p.Trp546Gly)
c.1870T>G (p.Trp624Gly)
3g.33014064A>GCA351983573GLB1c.1726T>C (p.Trp576Arg)
c.1333T>C (p.Trp445Arg)
c.1636T>C (p.Trp546Arg)
c.1870T>C (p.Trp624Arg)
3g.33014064A>TCA351983576GLB1c.1726T>A (p.Trp576Arg)
c.1333T>A (p.Trp445Arg)
c.1636T>A (p.Trp546Arg)
c.1870T>A (p.Trp624Arg)
3g.33014065_33014082delCA2577539510GLB1c.1709_1726del (p.Phe570_Gly575del)
c.1316_1333del (p.Phe439_Gly444del)
c.1619_1636del (p.Phe540_Gly545del)
c.1853_1870del (p.Phe618_Gly623del)
3g.33014065T>ACA432952519GLB1c.1725A>T (p.Gly575=)
c.1332A>T (p.Gly444=)
c.1635A>T (p.Gly545=)
c.1869A>T (p.Gly623=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.33014065T>CCA432952520GLB1c.1725A>G (p.Gly575=)
c.1332A>G (p.Gly444=)
c.1635A>G (p.Gly545=)
c.1869A>G (p.Gly623=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.33014065T>GCA432952521GLB1c.1725A>C (p.Gly575=)
c.1332A>C (p.Gly444=)
c.1635A>C (p.Gly545=)
c.1869A>C (p.Gly623=)
3g.33014065T=CA1355984267GLB1c.1725A= (p.Gly575=)
c.1332A= (p.Gly444=)
c.1635A= (p.Gly545=)
c.1869A= (p.Gly623=)
3g.33014065_33014066delinsCACA2580069240GLB1c.1724_1725delinsTG (p.Gly575Val)
c.1331_1332delinsTG (p.Gly444Val)
c.1634_1635delinsTG (p.Gly545Val)
c.1868_1869delinsTG (p.Gly623Val)
 ClinVar
3g.33014066C>ACA351983580GLB1c.1724G>T (p.Gly575Val)
c.1331G>T (p.Gly444Val)
c.1634G>T (p.Gly545Val)
c.1868G>T (p.Gly623Val)
3g.33014066C=CA1355984268GLB1c.1724G= (p.Gly575=)
c.1331G= (p.Gly444=)
c.1634G= (p.Gly545=)
c.1868G= (p.Gly623=)
3g.33014066C>GCA351983581GLB1c.1724G>C (p.Gly575Ala)
c.1331G>C (p.Gly444Ala)
c.1634G>C (p.Gly545Ala)
c.1868G>C (p.Gly623Ala)
 COSMIC
3g.33014066C>TCA351983579GLB1c.1724G>A (p.Gly575Glu)
c.1331G>A (p.Gly444Glu)
c.1634G>A (p.Gly545Glu)
c.1868G>A (p.Gly623Glu)
 dbSNP gnomAD v2 gnomAD v4
3g.33014067C>ACA351983584GLB1c.1723G>T (p.Gly575Ter)
c.1330G>T (p.Gly444Ter)
c.1633G>T (p.Gly545Ter)
c.1867G>T (p.Gly623Ter)
3g.33014067C>GCA351983587GLB1c.1723G>C (p.Gly575Arg)
c.1330G>C (p.Gly444Arg)
c.1633G>C (p.Gly545Arg)
c.1867G>C (p.Gly623Arg)
3g.33014067C>TCA351983590GLB1c.1723G>A (p.Gly575Arg)
c.1330G>A (p.Gly444Arg)
c.1633G>A (p.Gly545Arg)
c.1867G>A (p.Gly623Arg)
 gnomAD v4
3g.33014068A>CCA432952525GLB1c.1722T>G (p.Pro574=)
c.1329T>G (p.Pro443=)
c.1632T>G (p.Pro544=)
c.1866T>G (p.Pro622=)
3g.33014068A>GCA432952527GLB1c.1722T>C (p.Pro574=)
c.1329T>C (p.Pro443=)
c.1632T>C (p.Pro544=)
c.1866T>C (p.Pro622=)
3g.33014068A>TCA432952529GLB1c.1722T>A (p.Pro574=)
c.1329T>A (p.Pro443=)
c.1632T>A (p.Pro544=)
c.1866T>A (p.Pro622=)
3g.33014069G>ACA2299324GLB1c.1721C>T (p.Pro574Leu)
c.1328C>T (p.Pro443Leu)
c.1631C>T (p.Pro544Leu)
c.1865C>T (p.Pro622Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33014069G>CCA2299323GLB1c.1721C>G (p.Pro574Arg)
c.1328C>G (p.Pro443Arg)
c.1631C>G (p.Pro544Arg)
c.1865C>G (p.Pro622Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.33014069G=CA1355984269GLB1c.1721C= (p.Pro574=)
c.1328C= (p.Pro443=)
c.1631C= (p.Pro544=)
c.1865C= (p.Pro622=)
3g.33014069G>TCA351983597GLB1c.1721C>A (p.Pro574His)
c.1328C>A (p.Pro443His)
c.1631C>A (p.Pro544His)
c.1865C>A (p.Pro622His)
 dbSNP gnomAD v2 gnomAD v4
3g.33014070G>ACA351983606GLB1c.1720C>T (p.Pro574Ser)
c.1327C>T (p.Pro443Ser)
c.1630C>T (p.Pro544Ser)
c.1864C>T (p.Pro622Ser)
 gnomAD v4
3g.33014070G>CCA351983600GLB1c.1720C>G (p.Pro574Ala)
c.1327C>G (p.Pro443Ala)
c.1630C>G (p.Pro544Ala)
c.1864C>G (p.Pro622Ala)
3g.33014070G>TCA351983603GLB1c.1720C>A (p.Pro574Thr)
c.1327C>A (p.Pro443Thr)
c.1630C>A (p.Pro544Thr)
c.1864C>A (p.Pro622Thr)
3g.33014071A=CA1355984270GLB1c.1719T= (p.Phe573=)
c.1326T= (p.Phe442=)
c.1629T= (p.Phe543=)
c.1863T= (p.Phe621=)
3g.33014071A>CCA351983608GLB1c.1719T>G (p.Phe573Leu)
c.1326T>G (p.Phe442Leu)
c.1629T>G (p.Phe543Leu)
c.1863T>G (p.Phe621Leu)
3g.33014071A>GCA72646034GLB1c.1719T>C (p.Phe573=)
c.1326T>C (p.Phe442=)
c.1629T>C (p.Phe543=)
c.1863T>C (p.Phe621=)
 dbSNP gnomAD v3 gnomAD v4
3g.33014071A>TCA351983611GLB1c.1719T>A (p.Phe573Leu)
c.1326T>A (p.Phe442Leu)
c.1629T>A (p.Phe543Leu)
c.1863T>A (p.Phe621Leu)
3g.33014072A>CCA351983612GLB1c.1718T>G (p.Phe573Cys)
c.1325T>G (p.Phe442Cys)
c.1628T>G (p.Phe543Cys)
c.1862T>G (p.Phe621Cys)
3g.33014072A>GCA351983615GLB1c.1718T>C (p.Phe573Ser)
c.1325T>C (p.Phe442Ser)
c.1628T>C (p.Phe543Ser)
c.1862T>C (p.Phe621Ser)
3g.33014072A>TCA351983617GLB1c.1718T>A (p.Phe573Tyr)
c.1325T>A (p.Phe442Tyr)
c.1628T>A (p.Phe543Tyr)
c.1862T>A (p.Phe621Tyr)
3g.33014073A>CCA351983620GLB1c.1717T>G (p.Phe573Val)
c.1324T>G (p.Phe442Val)
c.1627T>G (p.Phe543Val)
n.816T>G
c.1861T>G (p.Phe621Val)
3g.33014073A>GCA351983626GLB1c.1717T>C (p.Phe573Leu)
c.1324T>C (p.Phe442Leu)
c.1627T>C (p.Phe543Leu)
n.816T>C
c.1861T>C (p.Phe621Leu)
3g.33014073A>TCA351983624GLB1c.1717T>A (p.Phe573Ile)
c.1324T>A (p.Phe442Ile)
c.1627T>A (p.Phe543Ile)
n.816T>A
c.1861T>A (p.Phe621Ile)
3g.33014074C>ACA351983663GLB1c.1716G>T (p.Gln572His)
c.1323G>T (p.Gln441His)
c.1626G>T (p.Gln542His)
n.815G>T
c.1860G>T (p.Gln620His)
3g.33014074C>GCA351983665GLB1c.1716G>C (p.Gln572His)
c.1323G>C (p.Gln441His)
c.1626G>C (p.Gln542His)
n.815G>C
c.1860G>C (p.Gln620His)
3g.33014074C>TCA432952538GLB1c.1716G>A (p.Gln572=)
c.1323G>A (p.Gln441=)
c.1626G>A (p.Gln542=)
n.815G>A
c.1860G>A (p.Gln620=)
 ClinVar gnomAD v4
3g.33014075T>ACA351983667GLB1c.1715A>T (p.Gln572Leu)
c.1322A>T (p.Gln441Leu)
c.1625A>T (p.Gln542Leu)
n.814A>T
c.1859A>T (p.Gln620Leu)
 gnomAD v4
3g.33014075T>CCA2299325GLB1c.1715A>G (p.Gln572Arg)
c.1322A>G (p.Gln441Arg)
c.1625A>G (p.Gln542Arg)
n.814A>G
c.1859A>G (p.Gln620Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33014075T>GCA351983670GLB1c.1715A>C (p.Gln572Pro)
c.1322A>C (p.Gln441Pro)
c.1625A>C (p.Gln542Pro)
n.814A>C
c.1859A>C (p.Gln620Pro)
3g.33014075T=CA1355984271GLB1c.1715A= (p.Gln572=)
c.1322A= (p.Gln441=)
c.1625A= (p.Gln542=)
n.814A=
c.1859A= (p.Gln620=)
3g.33014076G>ACA72646038GLB1c.1714C>T (p.Gln572Ter)
c.1321C>T (p.Gln441Ter)
c.1624C>T (p.Gln542Ter)
n.813C>T
c.1858C>T (p.Gln620Ter)
 ClinVar dbSNP gnomAD v2
3g.33014076G>CCA351983673GLB1c.1714C>G (p.Gln572Glu)
c.1321C>G (p.Gln441Glu)
c.1624C>G (p.Gln542Glu)
n.813C>G
c.1858C>G (p.Gln620Glu)
3g.33014076G=CA1355984272GLB1c.1714C= (p.Gln572=)
c.1321C= (p.Gln441=)
c.1624C= (p.Gln542=)
n.813C=
c.1858C= (p.Gln620=)
3g.33014076G>TCA351983675GLB1c.1714C>A (p.Gln572Lys)
c.1321C>A (p.Gln441Lys)
c.1624C>A (p.Gln542Lys)
n.813C>A
c.1858C>A (p.Gln620Lys)
3g.33014077G>ACA432952544GLB1c.1713C>T (p.Ile571=)
c.1320C>T (p.Ile440=)
c.1623C>T (p.Ile541=)
n.812C>T
c.1857C>T (p.Ile619=)
3g.33014077G>CCA351983676GLB1c.1713C>G (p.Ile571Met)
c.1320C>G (p.Ile440Met)
c.1623C>G (p.Ile541Met)
n.812C>G
c.1857C>G (p.Ile619Met)
3g.33014077G>TCA432952542GLB1c.1713C>A (p.Ile571=)
c.1320C>A (p.Ile440=)
c.1623C>A (p.Ile541=)
n.812C>A
c.1857C>A (p.Ile619=)
3g.33014078A>CCA351983680GLB1c.1712T>G (p.Ile571Ser)
c.1319T>G (p.Ile440Ser)
c.1622T>G (p.Ile541Ser)
n.811T>G
c.1856T>G (p.Ile619Ser)
3g.33014078A>GCA351983678GLB1c.1712T>C (p.Ile571Thr)
c.1319T>C (p.Ile440Thr)
c.1622T>C (p.Ile541Thr)
n.811T>C
c.1856T>C (p.Ile619Thr)
3g.33014078A>TCA351983679GLB1c.1712T>A (p.Ile571Asn)
c.1319T>A (p.Ile440Asn)
c.1622T>A (p.Ile541Asn)
n.811T>A
c.1856T>A (p.Ile619Asn)
3g.33014079T>ACA351983682GLB1c.1711A>T (p.Ile571Phe)
c.1318A>T (p.Ile440Phe)
c.1621A>T (p.Ile541Phe)
n.810A>T
c.1855A>T (p.Ile619Phe)
 ClinVar dbSNP
3g.33014079T>CCA351983683GLB1c.1711A>G (p.Ile571Val)
c.1318A>G (p.Ile440Val)
c.1621A>G (p.Ile541Val)
n.810A>G
c.1855A>G (p.Ile619Val)
3g.33014079T>GCA351983684GLB1c.1711A>C (p.Ile571Leu)
c.1318A>C (p.Ile440Leu)
c.1621A>C (p.Ile541Leu)
n.810A>C
c.1855A>C (p.Ile619Leu)
3g.33014079T=CA1355984273GLB1c.1711A= (p.Ile571=)
c.1318A= (p.Ile440=)
c.1621A= (p.Ile541=)
n.810A=
c.1855A= (p.Ile619=)
3g.33014080A>CCA351983686GLB1c.1710T>G (p.Phe570Leu)
c.1317T>G (p.Phe439Leu)
c.1620T>G (p.Phe540Leu)
n.809T>G
c.1854T>G (p.Phe618Leu)
3g.33014080A>GCA432952545GLB1c.1710T>C (p.Phe570=)
c.1317T>C (p.Phe439=)
c.1620T>C (p.Phe540=)
n.809T>C
c.1854T>C (p.Phe618=)
3g.33014080A>TCA351983687GLB1c.1710T>A (p.Phe570Leu)
c.1317T>A (p.Phe439Leu)
c.1620T>A (p.Phe540Leu)
n.809T>A
c.1854T>A (p.Phe618Leu)
3g.33014081A=CA1355984274GLB1c.1709T= (p.Phe570=)
c.1316T= (p.Phe439=)
c.1619T= (p.Phe540=)
n.808T=
c.1853T= (p.Phe618=)
3g.33014081A>CCA72646040GLB1c.1709T>G (p.Phe570Cys)
c.1316T>G (p.Phe439Cys)
c.1619T>G (p.Phe540Cys)
n.808T>G
c.1853T>G (p.Phe618Cys)
 dbSNP gnomAD v3 gnomAD v4
3g.33014081A>GCA351983696GLB1c.1709T>C (p.Phe570Ser)
c.1316T>C (p.Phe439Ser)
c.1619T>C (p.Phe540Ser)
n.808T>C
c.1853T>C (p.Phe618Ser)
3g.33014081A>TCA351983695GLB1c.1709T>A (p.Phe570Tyr)
c.1316T>A (p.Phe439Tyr)
c.1619T>A (p.Phe540Tyr)
n.808T>A
c.1853T>A (p.Phe618Tyr)
3g.33014082A>CCA351983697GLB1c.1708T>G (p.Phe570Val)
c.1315T>G (p.Phe439Val)
c.1618T>G (p.Phe540Val)
n.807T>G
c.1852T>G (p.Phe618Val)
3g.33014082A>GCA351983700GLB1c.1708T>C (p.Phe570Leu)
c.1315T>C (p.Phe439Leu)
c.1618T>C (p.Phe540Leu)
n.807T>C
c.1852T>C (p.Phe618Leu)
3g.33014082A>TCA351983703GLB1c.1708T>A (p.Phe570Ile)
c.1315T>A (p.Phe439Ile)
c.1618T>A (p.Phe540Ile)
n.807T>A
c.1852T>A (p.Phe618Ile)
3g.33014083G>ACA432952546GLB1c.1707C>T (p.Thr569=)
c.1314C>T (p.Thr438=)
c.1617C>T (p.Thr539=)
n.806C>T
c.1851C>T (p.Thr617=)
 ClinVar
3g.33014083G>CCA2299326GLB1c.1707C>G (p.Thr569=)
c.1314C>G (p.Thr438=)
c.1617C>G (p.Thr539=)
n.806C>G
c.1851C>G (p.Thr617=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.33014083G=CA1355984275GLB1c.1707C= (p.Thr569=)
c.1314C= (p.Thr438=)
c.1617C= (p.Thr539=)
n.806C=
c.1851C= (p.Thr617=)
3g.33014083G>TCA432952547GLB1c.1707C>A (p.Thr569=)
c.1314C>A (p.Thr438=)
c.1617C>A (p.Thr539=)
n.806C>A
c.1851C>A (p.Thr617=)
3g.33014084delCA2586971834GLB1c.1707del (p.Phe570LeufsTer?)
c.1314del (p.Phe439LeufsTer?)
c.1617del (p.Phe540LeufsTer?)
n.806del
c.1851del (p.Phe618LeufsTer?)
 gnomAD v4
3g.33014084G>ACA351983707GLB1c.1706C>T (p.Thr569Ile)
c.1313C>T (p.Thr438Ile)
c.1616C>T (p.Thr539Ile)
n.805C>T
c.1850C>T (p.Thr617Ile)
 gnomAD v4
3g.33014084G>CCA351983713GLB1c.1706C>G (p.Thr569Ser)
c.1313C>G (p.Thr438Ser)
c.1616C>G (p.Thr539Ser)
n.805C>G
c.1850C>G (p.Thr617Ser)
3g.33014084G>TCA351983716GLB1c.1706C>A (p.Thr569Asn)
c.1313C>A (p.Thr438Asn)
c.1616C>A (p.Thr539Asn)
n.805C>A
c.1850C>A (p.Thr617Asn)
3g.33014085T>ACA351983720GLB1c.1705A>T (p.Thr569Ser)
c.1312A>T (p.Thr438Ser)
c.1615A>T (p.Thr539Ser)
n.804A>T
c.1849A>T (p.Thr617Ser)
3g.33014085T>CCA351983721GLB1c.1705A>G (p.Thr569Ala)
c.1312A>G (p.Thr438Ala)
c.1615A>G (p.Thr539Ala)
n.804A>G
c.1849A>G (p.Thr617Ala)
 dbSNP
3g.33014085T>GCA351983724GLB1c.1705A>C (p.Thr569Pro)
c.1312A>C (p.Thr438Pro)
c.1615A>C (p.Thr539Pro)
n.804A>C
c.1849A>C (p.Thr617Pro)
3g.33014085T=CA1355984276GLB1c.1705A= (p.Thr569=)
c.1312A= (p.Thr438=)
c.1615A= (p.Thr539=)
n.804A=
c.1849A= (p.Thr617=)
3g.33014086G>ACA432952550GLB1c.1704C>T (p.Asp568=)
c.1311C>T (p.Asp437=)
c.1614C>T (p.Asp538=)
n.803C>T
c.1848C>T (p.Asp616=)
 ClinVar dbSNP
3g.33014086G>CCA351983727GLB1c.1704C>G (p.Asp568Glu)
c.1311C>G (p.Asp437Glu)
c.1614C>G (p.Asp538Glu)
n.803C>G
c.1848C>G (p.Asp616Glu)
3g.33014086G>TCA351983729GLB1c.1704C>A (p.Asp568Glu)
c.1311C>A (p.Asp437Glu)
c.1614C>A (p.Asp538Glu)
n.803C>A
c.1848C>A (p.Asp616Glu)
3g.33014087T>ACA351983730GLB1c.1703A>T (p.Asp568Val)
c.1310A>T (p.Asp437Val)
c.1613A>T (p.Asp538Val)
n.802A>T
c.1847A>T (p.Asp616Val)
 gnomAD v4
3g.33014087T>CCA351983734GLB1c.1703A>G (p.Asp568Gly)
c.1310A>G (p.Asp437Gly)
c.1613A>G (p.Asp538Gly)
n.802A>G
c.1847A>G (p.Asp616Gly)
 ClinVar
3g.33014087T>GCA351983733GLB1c.1703A>C (p.Asp568Ala)
c.1310A>C (p.Asp437Ala)
c.1613A>C (p.Asp538Ala)
n.802A>C
c.1847A>C (p.Asp616Ala)
3g.33014088C>ACA351983736GLB1c.1702G>T (p.Asp568Tyr)
c.1309G>T (p.Asp437Tyr)
c.1612G>T (p.Asp538Tyr)
n.801G>T
c.1846G>T (p.Asp616Tyr)
3g.33014088C>GCA351983740GLB1c.1702G>C (p.Asp568His)
c.1309G>C (p.Asp437His)
c.1612G>C (p.Asp538His)
n.801G>C
c.1846G>C (p.Asp616His)
3g.33014088C>TCA351983742GLB1c.1702G>A (p.Asp568Asn)
c.1309G>A (p.Asp437Asn)
c.1612G>A (p.Asp538Asn)
n.801G>A
c.1846G>A (p.Asp616Asn)
 gnomAD v4
3g.33014089C>ACA351983744GLB1c.1701G>T (p.Gln567His)
c.1308G>T (p.Gln436His)
c.1611G>T (p.Gln537His)
n.800G>T
c.1845G>T (p.Gln615His)
3g.33014089C>GCA351983745GLB1c.1701G>C (p.Gln567His)
c.1308G>C (p.Gln436His)
c.1611G>C (p.Gln537His)
n.800G>C
c.1845G>C (p.Gln615His)
3g.33014089C>TCA432952555GLB1c.1701G>A (p.Gln567=)
c.1308G>A (p.Gln436=)
c.1611G>A (p.Gln537=)
n.800G>A
c.1845G>A (p.Gln615=)
 ClinVar dbSNP
3g.33014090T>ACA351983756GLB1c.1700A>T (p.Gln567Leu)
c.1307A>T (p.Gln436Leu)
c.1610A>T (p.Gln537Leu)
n.799A>T
c.1844A>T (p.Gln615Leu)
3g.33014090T>CCA351983753GLB1c.1700A>G (p.Gln567Arg)
c.1307A>G (p.Gln436Arg)
c.1610A>G (p.Gln537Arg)
n.799A>G
c.1844A>G (p.Gln615Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.33014090T>GCA351983751GLB1c.1700A>C (p.Gln567Pro)
c.1307A>C (p.Gln436Pro)
c.1610A>C (p.Gln537Pro)
n.799A>C
c.1844A>C (p.Gln615Pro)
3g.33014090T=CA1355984277GLB1c.1700A= (p.Gln567=)
c.1307A= (p.Gln436=)
c.1610A= (p.Gln537=)
n.799A=
c.1844A= (p.Gln615=)
3g.33014091G>ACA351983760GLB1c.1699C>T (p.Gln567Ter)
c.1306C>T (p.Gln436Ter)
c.1609C>T (p.Gln537Ter)
n.798C>T
c.1843C>T (p.Gln615Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.33014091G>CCA351983764GLB1c.1699C>G (p.Gln567Glu)
c.1306C>G (p.Gln436Glu)
c.1609C>G (p.Gln537Glu)
n.798C>G
c.1843C>G (p.Gln615Glu)
3g.33014091G=CA1355984278GLB1c.1699C= (p.Gln567=)
c.1306C= (p.Gln436=)
c.1609C= (p.Gln537=)
n.798C=
c.1843C= (p.Gln615=)
3g.33014091G>TCA351983765GLB1c.1699C>A (p.Gln567Lys)
c.1306C>A (p.Gln436Lys)
c.1609C>A (p.Gln537Lys)
n.798C>A
c.1843C>A (p.Gln615Lys)
3g.33014094dupCA645527979GLB1c.1699dup (p.Gln567ProfsTer18)
c.1306dup (p.Gln436ProfsTer18)
c.1609dup (p.Gln537ProfsTer18)
n.798dup
c.1843dup (p.Gln615ProfsTer18)
c.1699dup (p.Gln567ProfsTer?)
 COSMIC COSMIC
3g.33014092G>ACA72646063GLB1c.1698C>T (p.Pro566=)
c.1305C>T (p.Pro435=)
c.1608C>T (p.Pro536=)
n.797C>T
c.1842C>T (p.Pro614=)
 ClinVar dbSNP gnomAD v4
3g.33014092G>CCA432952559GLB1c.1698C>G (p.Pro566=)
c.1305C>G (p.Pro435=)
c.1608C>G (p.Pro536=)
n.797C>G
c.1842C>G (p.Pro614=)
3g.33014092G=CA1355984279GLB1c.1698C= (p.Pro566=)
c.1305C= (p.Pro435=)
c.1608C= (p.Pro536=)
n.797C=
c.1842C= (p.Pro614=)
3g.33014092G>TCA432952558GLB1c.1698C>A (p.Pro566=)
c.1305C>A (p.Pro435=)
c.1608C>A (p.Pro536=)
n.797C>A
c.1842C>A (p.Pro614=)
3g.33014093G>ACA351983770GLB1c.1697C>T (p.Pro566Leu)
c.1304C>T (p.Pro435Leu)
c.1607C>T (p.Pro536Leu)
n.796C>T
c.1841C>T (p.Pro614Leu)
3g.33014093G>CCA351983773GLB1c.1697C>G (p.Pro566Arg)
c.1304C>G (p.Pro435Arg)
c.1607C>G (p.Pro536Arg)
n.796C>G
c.1841C>G (p.Pro614Arg)
3g.33014093G=CA1355984280GLB1c.1697C= (p.Pro566=)
c.1304C= (p.Pro435=)
c.1607C= (p.Pro536=)
n.796C=
c.1841C= (p.Pro614=)
3g.33014093G>TCA351983787GLB1c.1697C>A (p.Pro566His)
c.1304C>A (p.Pro435His)
c.1607C>A (p.Pro536His)
n.796C>A
c.1841C>A (p.Pro614His)
 ClinVar dbSNP
3g.33014094G>ACA16604872GLB1c.1696C>T (p.Pro566Ser)
c.1303C>T (p.Pro435Ser)
c.1606C>T (p.Pro536Ser)
n.795C>T
c.1840C>T (p.Pro614Ser)
 ClinVar dbSNP
3g.33014094G>CCA351983794GLB1c.1696C>G (p.Pro566Ala)
c.1303C>G (p.Pro435Ala)
c.1606C>G (p.Pro536Ala)
n.795C>G
c.1840C>G (p.Pro614Ala)
3g.33014094G=CA1355984281GLB1c.1696C= (p.Pro566=)
c.1303C= (p.Pro435=)
c.1606C= (p.Pro536=)
n.795C=
c.1840C= (p.Pro614=)
3g.33014094G>TCA351983792GLB1c.1696C>A (p.Pro566Thr)
c.1303C>A (p.Pro435Thr)
c.1606C>A (p.Pro536Thr)
n.795C>A
c.1840C>A (p.Pro614Thr)
3g.33014095C>ACA2299327GLB1c.1695G>T (p.Leu565Phe)
c.1302G>T (p.Leu434Phe)
c.1605G>T (p.Leu535Phe)
n.794G>T
c.1839G>T (p.Leu613Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.33014095C=CA1355984282GLB1c.1695G= (p.Leu565=)
c.1302G= (p.Leu434=)
c.1605G= (p.Leu535=)
n.794G=
c.1839G= (p.Leu613=)
3g.33014095C>GCA351983798GLB1c.1695G>C (p.Leu565Phe)
c.1302G>C (p.Leu434Phe)
c.1605G>C (p.Leu535Phe)
n.794G>C
c.1839G>C (p.Leu613Phe)
3g.33014095C>TCA432952564GLB1c.1695G>A (p.Leu565=)
c.1302G>A (p.Leu434=)
c.1605G>A (p.Leu535=)
n.794G>A
c.1839G>A (p.Leu613=)
 gnomAD v4
3g.33014096A>CCA351983799GLB1c.1694T>G (p.Leu565Trp)
c.1301T>G (p.Leu434Trp)
c.1604T>G (p.Leu535Trp)
n.793T>G
c.1838T>G (p.Leu613Trp)
3g.33014096A>GCA351983806GLB1c.1694T>C (p.Leu565Ser)
c.1301T>C (p.Leu434Ser)
c.1604T>C (p.Leu535Ser)
n.793T>C
c.1838T>C (p.Leu613Ser)
3g.33014096A>TCA351983809GLB1c.1694T>A (p.Leu565Ter)
c.1301T>A (p.Leu434Ter)
c.1604T>A (p.Leu535Ter)
n.793T>A
c.1838T>A (p.Leu613Ter)
3g.33014097A>CCA351983814GLB1c.1693T>G (p.Leu565Val)
c.1300T>G (p.Leu434Val)
c.1603T>G (p.Leu535Val)
n.792T>G
c.1837T>G (p.Leu613Val)
3g.33014097A>GCA432952566GLB1c.1693T>C (p.Leu565=)
c.1300T>C (p.Leu434=)
c.1603T>C (p.Leu535=)
n.792T>C
c.1837T>C (p.Leu613=)
3g.33014097A>TCA351983818GLB1c.1693T>A (p.Leu565Met)
c.1300T>A (p.Leu434Met)
c.1603T>A (p.Leu535Met)
n.792T>A
c.1837T>A (p.Leu613Met)
3g.33014098G>ACA72646112GLB1c.1692C>T (p.Asp564=)
c.1299C>T (p.Asp433=)
c.1602C>T (p.Asp534=)
n.791C>T
c.1836C>T (p.Asp612=)
 ClinVar dbSNP
3g.33014098G>CCA351983823GLB1c.1692C>G (p.Asp564Glu)
c.1299C>G (p.Asp433Glu)
c.1602C>G (p.Asp534Glu)
n.791C>G
c.1836C>G (p.Asp612Glu)
3g.33014098G=CA1355984283GLB1c.1692C= (p.Asp564=)
c.1299C= (p.Asp433=)
c.1602C= (p.Asp534=)
n.791C=
c.1836C= (p.Asp612=)
3g.33014098G>TCA351983825GLB1c.1692C>A (p.Asp564Glu)
c.1299C>A (p.Asp433Glu)
c.1602C>A (p.Asp534Glu)
n.791C>A
c.1836C>A (p.Asp612Glu)
3g.33014099T>ACA351983828GLB1c.1691A>T (p.Asp564Val)
c.1298A>T (p.Asp433Val)
c.1601A>T (p.Asp534Val)
n.790A>T
c.1835A>T (p.Asp612Val)
3g.33014099T>CCA351983833GLB1c.1691A>G (p.Asp564Gly)
c.1298A>G (p.Asp433Gly)
c.1601A>G (p.Asp534Gly)
n.790A>G
c.1835A>G (p.Asp612Gly)
 dbSNP
3g.33014099T>GCA351983831GLB1c.1691A>C (p.Asp564Ala)
c.1298A>C (p.Asp433Ala)
c.1601A>C (p.Asp534Ala)
n.790A>C
c.1835A>C (p.Asp612Ala)
3g.33014099T=CA1355984284GLB1c.1691A= (p.Asp564=)
c.1298A= (p.Asp433=)
c.1601A= (p.Asp534=)
n.790A=
c.1835A= (p.Asp612=)
3g.33014100C>ACA351983838GLB1c.1690G>T (p.Asp564Tyr)
c.1297G>T (p.Asp433Tyr)
c.1600G>T (p.Asp534Tyr)
n.789G>T
c.1834G>T (p.Asp612Tyr)
3g.33014100C>GCA351983840GLB1c.1690G>C (p.Asp564His)
c.1297G>C (p.Asp433His)
c.1600G>C (p.Asp534His)
n.789G>C
c.1834G>C (p.Asp612His)
3g.33014100C>TCA351983839GLB1c.1690G>A (p.Asp564Asn)
c.1297G>A (p.Asp433Asn)
c.1600G>A (p.Asp534Asn)
n.789G>A
c.1834G>A (p.Asp612Asn)
 dbSNP
3g.33014101T>ACA432952568GLB1c.1689A>T (p.Pro563=)
c.1296A>T (p.Pro432=)
c.1599A>T (p.Pro533=)
n.788A>T
c.1833A>T (p.Pro611=)
3g.33014101T>CCA432952569GLB1c.1689A>G (p.Pro563=)
c.1296A>G (p.Pro432=)
c.1599A>G (p.Pro533=)
n.788A>G
c.1833A>G (p.Pro611=)
 ClinVar
3g.33014101T>GCA432952570GLB1c.1689A>C (p.Pro563=)
c.1296A>C (p.Pro432=)
c.1599A>C (p.Pro533=)
n.788A>C
c.1833A>C (p.Pro611=)
3g.33014102G>ACA351983848GLB1c.1688C>T (p.Pro563Leu)
c.1295C>T (p.Pro432Leu)
c.1598C>T (p.Pro533Leu)
n.787C>T
c.1832C>T (p.Pro611Leu)
3g.33014102G>CCA351983856GLB1c.1688C>G (p.Pro563Arg)
c.1295C>G (p.Pro432Arg)
c.1598C>G (p.Pro533Arg)
n.787C>G
c.1832C>G (p.Pro611Arg)
3g.33014102G>TCA351983861GLB1c.1688C>A (p.Pro563Gln)
c.1295C>A (p.Pro432Gln)
c.1598C>A (p.Pro533Gln)
n.787C>A
c.1832C>A (p.Pro611Gln)
3g.33014103G>ACA351983862GLB1c.1687C>T (p.Pro563Ser)
c.1294C>T (p.Pro432Ser)
c.1597C>T (p.Pro533Ser)
n.786C>T
c.1831C>T (p.Pro611Ser)
 gnomAD v4 COSMIC COSMIC
3g.33014103G>CCA2299328GLB1c.1687C>G (p.Pro563Ala)
c.1294C>G (p.Pro432Ala)
c.1597C>G (p.Pro533Ala)
n.786C>G
c.1831C>G (p.Pro611Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.33014103G=CA1355984285GLB1c.1687C= (p.Pro563=)
c.1294C= (p.Pro432=)
c.1597C= (p.Pro533=)
n.786C=
c.1831C= (p.Pro611=)
3g.33014103G>TCA351983875GLB1c.1687C>A (p.Pro563Thr)
c.1294C>A (p.Pro432Thr)
c.1597C>A (p.Pro533Thr)
n.786C>A
c.1831C>A (p.Pro611Thr)
3g.33014104G>ACA432952571GLB1c.1686C>T (p.Ile562=)
c.1293C>T (p.Ile431=)
c.1596C>T (p.Ile532=)
n.785C>T
c.1830C>T (p.Ile610=)
3g.33014104G>CCA351983882GLB1c.1686C>G (p.Ile562Met)
c.1293C>G (p.Ile431Met)
c.1596C>G (p.Ile532Met)
n.785C>G
c.1830C>G (p.Ile610Met)
3g.33014104G=CA1355984286GLB1c.1686C= (p.Ile562=)
c.1293C= (p.Ile431=)
c.1596C= (p.Ile532=)
n.785C=
c.1830C= (p.Ile610=)
3g.33014104G>TCA432952572GLB1c.1686C>A (p.Ile562=)
c.1293C>A (p.Ile431=)
c.1596C>A (p.Ile532=)
n.785C>A
c.1830C>A (p.Ile610=)
3g.33014105A>CCA351983892GLB1c.1685T>G (p.Ile562Ser)
c.1292T>G (p.Ile431Ser)
c.1595T>G (p.Ile532Ser)
n.784T>G
c.1829T>G (p.Ile610Ser)
3g.33014105A>GCA351983893GLB1c.1685T>C (p.Ile562Thr)
c.1292T>C (p.Ile431Thr)
c.1595T>C (p.Ile532Thr)
n.784T>C
c.1829T>C (p.Ile610Thr)
3g.33014105A>TCA351983896GLB1c.1685T>A (p.Ile562Asn)
c.1292T>A (p.Ile431Asn)
c.1595T>A (p.Ile532Asn)
n.784T>A
c.1829T>A (p.Ile610Asn)
3g.33014105dupCA1139657922GLB1c.1685dup (p.Asp564ArgfsTer21)
c.1292dup (p.Asp433ArgfsTer21)
c.1595dup (p.Asp534ArgfsTer21)
n.784dup
c.1829dup (p.Asp612ArgfsTer21)
c.1685dup (p.Asp564ArgfsTer?)
 ClinVar dbSNP
3g.33014106T>ACA351983912GLB1c.1684A>T (p.Ile562Phe)
c.1291A>T (p.Ile431Phe)
c.1594A>T (p.Ile532Phe)
n.783A>T
c.1828A>T (p.Ile610Phe)
3g.33014106T>CCA351983911GLB1c.1684A>G (p.Ile562Val)
c.1291A>G (p.Ile431Val)
c.1594A>G (p.Ile532Val)
n.783A>G
c.1828A>G (p.Ile610Val)
3g.33014106T>GCA351983910GLB1c.1684A>C (p.Ile562Leu)
c.1291A>C (p.Ile431Leu)
c.1594A>C (p.Ile532Leu)
n.783A>C
c.1828A>C (p.Ile610Leu)
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=)

Number of alleles fetched