| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.32997265T>A | CA2299292 | GLB1 | c.1814A>T (p.Gln605Leu) c.1421A>T (p.Gln474Leu) c.1724A>T (p.Gln575Leu) c.1958A>T (p.Gln653Leu) c.1734+16791A>T (n.1734+16791A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.32997265T>C | CA352000693 | GLB1 | c.1814A>G (p.Gln605Arg) c.1421A>G (p.Gln474Arg) c.1724A>G (p.Gln575Arg) c.1958A>G (p.Gln653Arg) c.1734+16791A>G (n.1734+16791A>G) | dbSNP |
| 3 | g.32997265T>G | CA352000692 | GLB1 | c.1814A>C (p.Gln605Pro) c.1421A>C (p.Gln474Pro) c.1724A>C (p.Gln575Pro) c.1958A>C (p.Gln653Pro) c.1734+16791A>C (n.1734+16791A>C) | |
| 3 | g.32997265T= | CA1355976967 | GLB1 | c.1814A= (p.Gln605=) c.1421A= (p.Gln474=) c.1724A= (p.Gln575=) c.1958A= (p.Gln653=) c.1734+16791A= (n.1734+16791A=) | |
| 3 | g.32997266G>A | CA352000694 | GLB1 | c.1813C>T (p.Gln605Ter) c.1420C>T (p.Gln474Ter) c.1723C>T (p.Gln575Ter) c.1957C>T (p.Gln653Ter) c.1734+16790C>T (n.1734+16790C>T) | |
| 3 | g.32997266G>C | CA352000695 | GLB1 | c.1813C>G (p.Gln605Glu) c.1420C>G (p.Gln474Glu) c.1723C>G (p.Gln575Glu) c.1957C>G (p.Gln653Glu) c.1734+16790C>G (n.1734+16790C>G) | |
| 3 | g.32997266G>T | CA352000696 | GLB1 | c.1813C>A (p.Gln605Lys) c.1420C>A (p.Gln474Lys) c.1723C>A (p.Gln575Lys) c.1957C>A (p.Gln653Lys) c.1734+16790C>A (n.1734+16790C>A) | |
| 3 | g.32997269del | CA432960398 | GLB1 | c.1813del (p.Gln605SerfsTer4) c.1420del (p.Gln474SerfsTer4) c.1723del (p.Gln575SerfsTer4) c.1957del (p.Gln653SerfsTer4) c.1734+16790del (n.1734+16790del) | |
| 3 | g.32997267G>A | CA2299293 | GLB1 | c.1812C>T (p.Pro604=) c.1419C>T (p.Pro473=) c.1722C>T (p.Pro574=) c.1956C>T (p.Pro652=) c.1734+16789C>T (n.1734+16789C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.32997267G>C | CA432960399 | GLB1 | c.1812C>G (p.Pro604=) c.1419C>G (p.Pro473=) c.1722C>G (p.Pro574=) c.1956C>G (p.Pro652=) c.1734+16789C>G (n.1734+16789C>G) | ClinVar dbSNP |
| 3 | g.32997267G= | CA1355976968 | GLB1 | c.1812C= (p.Pro604=) c.1419C= (p.Pro473=) c.1722C= (p.Pro574=) c.1956C= (p.Pro652=) c.1734+16789C= (n.1734+16789C=) | |
| 3 | g.32997267G>T | CA432960400 | GLB1 | c.1812C>A (p.Pro604=) c.1419C>A (p.Pro473=) c.1722C>A (p.Pro574=) c.1956C>A (p.Pro652=) c.1734+16789C>A (n.1734+16789C>A) | |
| 3 | g.32997268G>A | CA352000697 | GLB1 | c.1811C>T (p.Pro604Leu) c.1418C>T (p.Pro473Leu) c.1721C>T (p.Pro574Leu) c.1955C>T (p.Pro652Leu) c.1734+16788C>T (n.1734+16788C>T) | |
| 3 | g.32997268G>C | CA352000699 | GLB1 | c.1811C>G (p.Pro604Arg) c.1418C>G (p.Pro473Arg) c.1721C>G (p.Pro574Arg) c.1955C>G (p.Pro652Arg) c.1734+16788C>G (n.1734+16788C>G) | |
| 3 | g.32997268G>T | CA352000698 | GLB1 | c.1811C>A (p.Pro604His) c.1418C>A (p.Pro473His) c.1721C>A (p.Pro574His) c.1955C>A (p.Pro652His) c.1734+16788C>A (n.1734+16788C>A) | gnomAD v4 |
| 3 | g.32997269G>A | CA352000700 | GLB1 | c.1810C>T (p.Pro604Ser) c.1417C>T (p.Pro473Ser) c.1720C>T (p.Pro574Ser) c.1954C>T (p.Pro652Ser) c.1734+16787C>T (n.1734+16787C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.32997269G>C | CA352000701 | GLB1 | c.1810C>G (p.Pro604Ala) c.1417C>G (p.Pro473Ala) c.1720C>G (p.Pro574Ala) c.1954C>G (p.Pro652Ala) c.1734+16787C>G (n.1734+16787C>G) | |
| 3 | g.32997269G= | CA1355976969 | GLB1 | c.1810C= (p.Pro604=) c.1417C= (p.Pro473=) c.1720C= (p.Pro574=) c.1954C= (p.Pro652=) c.1734+16787C= (n.1734+16787C=) | |
| 3 | g.32997269G>T | CA352000702 | GLB1 | c.1810C>A (p.Pro604Thr) c.1417C>A (p.Pro473Thr) c.1720C>A (p.Pro574Thr) c.1954C>A (p.Pro652Thr) c.1734+16787C>A (n.1734+16787C>A) | |
| 3 | g.32997270C>A | CA432960402 | GLB1 | c.1809G>T (p.Val603=) c.1416G>T (p.Val472=) c.1719G>T (p.Val573=) c.1953G>T (p.Val651=) c.1734+16786G>T (n.1734+16786G>T) | |
| 3 | g.32997270C>G | CA432960403 | GLB1 | c.1809G>C (p.Val603=) c.1416G>C (p.Val472=) c.1719G>C (p.Val573=) c.1953G>C (p.Val651=) c.1734+16786G>C (n.1734+16786G>C) | |
| 3 | g.32997270C>T | CA432960404 | GLB1 | c.1809G>A (p.Val603=) c.1416G>A (p.Val472=) c.1719G>A (p.Val573=) c.1953G>A (p.Val651=) c.1734+16786G>A (n.1734+16786G>A) | gnomAD v4 |
| 3 | g.32997271A= | CA1355976970 | GLB1 | c.1808T= (p.Val603=) c.1415T= (p.Val472=) c.1718T= (p.Val573=) c.1952T= (p.Val651=) c.1734+16785T= (n.1734+16785T=) | |
| 3 | g.32997271A>C | CA352000703 | GLB1 | c.1808T>G (p.Val603Gly) c.1415T>G (p.Val472Gly) c.1718T>G (p.Val573Gly) c.1952T>G (p.Val651Gly) c.1734+16785T>G (n.1734+16785T>G) | |
| 3 | g.32997271A>G | CA352000704 | GLB1 | c.1808T>C (p.Val603Ala) c.1415T>C (p.Val472Ala) c.1718T>C (p.Val573Ala) c.1952T>C (p.Val651Ala) c.1734+16785T>C (n.1734+16785T>C) | dbSNP |
| 3 | g.32997271A>T | CA352000705 | GLB1 | c.1808T>A (p.Val603Glu) c.1415T>A (p.Val472Glu) c.1718T>A (p.Val573Glu) c.1952T>A (p.Val651Glu) c.1734+16785T>A (n.1734+16785T>A) | |
| 3 | g.32997272C>A | CA352000706 | GLB1 | c.1807G>T (p.Val603Leu) c.1414G>T (p.Val472Leu) c.1717G>T (p.Val573Leu) c.1951G>T (p.Val651Leu) c.1734+16784G>T (n.1734+16784G>T) | |
| 3 | g.32997272C>G | CA352000707 | GLB1 | c.1807G>C (p.Val603Leu) c.1414G>C (p.Val472Leu) c.1717G>C (p.Val573Leu) c.1951G>C (p.Val651Leu) c.1734+16784G>C (n.1734+16784G>C) | |
| 3 | g.32997272C>T | CA352000708 | GLB1 | c.1807G>A (p.Val603Met) c.1414G>A (p.Val472Met) c.1717G>A (p.Val573Met) c.1951G>A (p.Val651Met) c.1734+16784G>A (n.1734+16784G>A) | gnomAD v4 |
| 3 | g.32997273A>C | CA352000709 | GLB1 | c.1806T>G (p.Phe602Leu) c.1413T>G (p.Phe471Leu) c.1716T>G (p.Phe572Leu) c.1950T>G (p.Phe650Leu) c.1734+16783T>G (n.1734+16783T>G) | |
| 3 | g.32997273A>G | CA432960405 | GLB1 | c.1806T>C (p.Phe602=) c.1413T>C (p.Phe471=) c.1716T>C (p.Phe572=) c.1950T>C (p.Phe650=) c.1734+16783T>C (n.1734+16783T>C) | |
| 3 | g.32997273A>T | CA352000710 | GLB1 | c.1806T>A (p.Phe602Leu) c.1413T>A (p.Phe471Leu) c.1716T>A (p.Phe572Leu) c.1950T>A (p.Phe650Leu) c.1734+16783T>A (n.1734+16783T>A) | |
| 3 | g.32997274A>C | CA352000711 | GLB1 | c.1805T>G (p.Phe602Cys) c.1412T>G (p.Phe471Cys) c.1715T>G (p.Phe572Cys) c.1949T>G (p.Phe650Cys) c.1734+16782T>G (n.1734+16782T>G) | |
| 3 | g.32997274A>G | CA352000713 | GLB1 | c.1805T>C (p.Phe602Ser) c.1412T>C (p.Phe471Ser) c.1715T>C (p.Phe572Ser) c.1949T>C (p.Phe650Ser) c.1734+16782T>C (n.1734+16782T>C) | |
| 3 | g.32997274A>T | CA352000712 | GLB1 | c.1805T>A (p.Phe602Tyr) c.1412T>A (p.Phe471Tyr) c.1715T>A (p.Phe572Tyr) c.1949T>A (p.Phe650Tyr) c.1734+16782T>A (n.1734+16782T>A) | |
| 3 | g.32997275A>C | CA352000714 | GLB1 | c.1804T>G (p.Phe602Val) c.1411T>G (p.Phe471Val) c.1714T>G (p.Phe572Val) c.1948T>G (p.Phe650Val) c.1734+16781T>G (n.1734+16781T>G) | |
| 3 | g.32997275A>G | CA352000715 | GLB1 | c.1804T>C (p.Phe602Leu) c.1411T>C (p.Phe471Leu) c.1714T>C (p.Phe572Leu) c.1948T>C (p.Phe650Leu) c.1734+16781T>C (n.1734+16781T>C) | |
| 3 | g.32997275A>T | CA352000716 | GLB1 | c.1804T>A (p.Phe602Ile) c.1411T>A (p.Phe471Ile) c.1714T>A (p.Phe572Ile) c.1948T>A (p.Phe650Ile) c.1734+16781T>A (n.1734+16781T>A) | |
| 3 | g.32997276C>A | CA352000717 | GLB1 | c.1803G>T (p.Leu601Phe) c.1410G>T (p.Leu470Phe) c.1713G>T (p.Leu571Phe) c.1947G>T (p.Leu649Phe) c.1734+16780G>T (n.1734+16780G>T) | |
| 3 | g.32997276C>G | CA352000718 | GLB1 | c.1803G>C (p.Leu601Phe) c.1410G>C (p.Leu470Phe) c.1713G>C (p.Leu571Phe) c.1947G>C (p.Leu649Phe) c.1734+16780G>C (n.1734+16780G>C) | |
| 3 | g.32997276C>T | CA432960408 | GLB1 | c.1803G>A (p.Leu601=) c.1410G>A (p.Leu470=) c.1713G>A (p.Leu571=) c.1947G>A (p.Leu649=) c.1734+16780G>A (n.1734+16780G>A) | ClinVar dbSNP |
| 3 | g.32997277A= | CA1355976971 | GLB1 | c.1802T= (p.Leu601=) c.1409T= (p.Leu470=) c.1712T= (p.Leu571=) c.1946T= (p.Leu649=) c.1734+16779T= (n.1734+16779T=) | |
| 3 | g.32997277A>C | CA352000719 | GLB1 | c.1802T>G (p.Leu601Trp) c.1409T>G (p.Leu470Trp) c.1712T>G (p.Leu571Trp) c.1946T>G (p.Leu649Trp) c.1734+16779T>G (n.1734+16779T>G) | |
| 3 | g.32997277A>G | CA352000720 | GLB1 | c.1802T>C (p.Leu601Ser) c.1409T>C (p.Leu470Ser) c.1712T>C (p.Leu571Ser) c.1946T>C (p.Leu649Ser) c.1734+16779T>C (n.1734+16779T>C) | dbSNP |
| 3 | g.32997277A>T | CA352000721 | GLB1 | c.1802T>A (p.Leu601Ter) c.1409T>A (p.Leu470Ter) c.1712T>A (p.Leu571Ter) c.1946T>A (p.Leu649Ter) c.1734+16779T>A (n.1734+16779T>A) | |
| 3 | g.32997278A= | CA1355976972 | GLB1 | c.1801T= (p.Leu601=) c.1408T= (p.Leu470=) c.1711T= (p.Leu571=) c.1945T= (p.Leu649=) c.1734+16778T= (n.1734+16778T=) | |
| 3 | g.32997278A>C | CA72667231 | GLB1 | c.1801T>G (p.Leu601Val) c.1408T>G (p.Leu470Val) c.1711T>G (p.Leu571Val) c.1945T>G (p.Leu649Val) c.1734+16778T>G (n.1734+16778T>G) | dbSNP gnomAD v4 |
| 3 | g.32997278A>G | CA432960409 | GLB1 | c.1801T>C (p.Leu601=) c.1408T>C (p.Leu470=) c.1711T>C (p.Leu571=) c.1945T>C (p.Leu649=) c.1734+16778T>C (n.1734+16778T>C) | ClinVar |
| 3 | g.32997278A>T | CA352000722 | GLB1 | c.1801T>A (p.Leu601Met) c.1408T>A (p.Leu470Met) c.1711T>A (p.Leu571Met) c.1945T>A (p.Leu649Met) c.1734+16778T>A (n.1734+16778T>A) | |
| 3 | g.32997279G>A | CA432960412 | GLB1 | c.1800C>T (p.Thr600=) c.1407C>T (p.Thr469=) c.1710C>T (p.Thr570=) c.1944C>T (p.Thr648=) c.1734+16777C>T (n.1734+16777C>T) | dbSNP |
| 3 | g.32997279G>C | CA432960411 | GLB1 | c.1800C>G (p.Thr600=) c.1407C>G (p.Thr469=) c.1710C>G (p.Thr570=) c.1944C>G (p.Thr648=) c.1734+16777C>G (n.1734+16777C>G) | |
| 3 | g.32997279G= | CA1355976973 | GLB1 | c.1800C= (p.Thr600=) c.1407C= (p.Thr469=) c.1710C= (p.Thr570=) c.1944C= (p.Thr648=) c.1734+16777C= (n.1734+16777C=) | |
| 3 | g.32997279G>T | CA432960410 | GLB1 | c.1800C>A (p.Thr600=) c.1407C>A (p.Thr469=) c.1710C>A (p.Thr570=) c.1944C>A (p.Thr648=) c.1734+16777C>A (n.1734+16777C>A) | |
| 3 | g.32997280G>A | CA352000723 | GLB1 | c.1799C>T (p.Thr600Ile) c.1406C>T (p.Thr469Ile) c.1709C>T (p.Thr570Ile) c.1943C>T (p.Thr648Ile) c.1734+16776C>T (n.1734+16776C>T) | |
| 3 | g.32997280G>C | CA352000724 | GLB1 | c.1799C>G (p.Thr600Ser) c.1406C>G (p.Thr469Ser) c.1709C>G (p.Thr570Ser) c.1943C>G (p.Thr648Ser) c.1734+16776C>G (n.1734+16776C>G) | |
| 3 | g.32997280G>T | CA352000725 | GLB1 | c.1799C>A (p.Thr600Asn) c.1406C>A (p.Thr469Asn) c.1709C>A (p.Thr570Asn) c.1943C>A (p.Thr648Asn) c.1734+16776C>A (n.1734+16776C>A) | |
| 3 | g.32997281T>A | CA352000726 | GLB1 | c.1798A>T (p.Thr600Ser) c.1405A>T (p.Thr469Ser) c.1708A>T (p.Thr570Ser) c.1942A>T (p.Thr648Ser) c.1734+16775A>T (n.1734+16775A>T) | |
| 3 | g.32997281T>C | CA352000728 | GLB1 | c.1798A>G (p.Thr600Ala) c.1405A>G (p.Thr469Ala) c.1708A>G (p.Thr570Ala) c.1942A>G (p.Thr648Ala) c.1734+16775A>G (n.1734+16775A>G) | |
| 3 | g.32997281T>G | CA352000727 | GLB1 | c.1798A>C (p.Thr600Pro) c.1405A>C (p.Thr469Pro) c.1708A>C (p.Thr570Pro) c.1942A>C (p.Thr648Pro) c.1734+16775A>C (n.1734+16775A>C) | |
| 3 | g.32997282C>A | CA352000729 | GLB1 | c.1797G>T (p.Leu599Phe) c.1404G>T (p.Leu468Phe) c.1707G>T (p.Leu569Phe) c.1941G>T (p.Leu647Phe) c.1734+16774G>T (n.1734+16774G>T) | |
| 3 | g.32997282C>G | CA352000730 | GLB1 | c.1797G>C (p.Leu599Phe) c.1404G>C (p.Leu468Phe) c.1707G>C (p.Leu569Phe) c.1941G>C (p.Leu647Phe) c.1734+16774G>C (n.1734+16774G>C) | |
| 3 | g.32997282C>T | CA432960413 | GLB1 | c.1797G>A (p.Leu599=) c.1404G>A (p.Leu468=) c.1707G>A (p.Leu569=) c.1941G>A (p.Leu647=) c.1734+16774G>A (n.1734+16774G>A) | |
| 3 | g.32997283A>C | CA352000731 | GLB1 | c.1796T>G (p.Leu599Trp) c.1403T>G (p.Leu468Trp) c.1706T>G (p.Leu569Trp) c.1940T>G (p.Leu647Trp) c.1734+16773T>G (n.1734+16773T>G) | |
| 3 | g.32997283A>G | CA352000732 | GLB1 | c.1796T>C (p.Leu599Ser) c.1403T>C (p.Leu468Ser) c.1706T>C (p.Leu569Ser) c.1940T>C (p.Leu647Ser) c.1734+16773T>C (n.1734+16773T>C) | |
| 3 | g.32997283A>T | CA352000733 | GLB1 | c.1796T>A (p.Leu599Ter) c.1403T>A (p.Leu468Ter) c.1706T>A (p.Leu569Ter) c.1940T>A (p.Leu647Ter) c.1734+16773T>A (n.1734+16773T>A) | |
| 3 | g.32997284A>C | CA352000734 | GLB1 | c.1795T>G (p.Leu599Val) c.1402T>G (p.Leu468Val) c.1705T>G (p.Leu569Val) c.1939T>G (p.Leu647Val) c.1734+16772T>G (n.1734+16772T>G) | |
| 3 | g.32997284A>G | CA432960414 | GLB1 | c.1795T>C (p.Leu599=) c.1402T>C (p.Leu468=) c.1705T>C (p.Leu569=) c.1939T>C (p.Leu647=) c.1734+16772T>C (n.1734+16772T>C) | |
| 3 | g.32997284A>T | CA352000735 | GLB1 | c.1795T>A (p.Leu599Met) c.1402T>A (p.Leu468Met) c.1705T>A (p.Leu569Met) c.1939T>A (p.Leu647Met) c.1734+16772T>A (n.1734+16772T>A) | |
| 3 | g.32997285C>A | CA352000736 | GLB1 | c.1794G>T (p.Gln598His) c.1401G>T (p.Gln467His) c.1704G>T (p.Gln568His) c.1938G>T (p.Gln646His) c.1734+16771G>T (n.1734+16771G>T) | |
| 3 | g.32997285C= | CA1355976974 | GLB1 | c.1794G= (p.Gln598=) c.1401G= (p.Gln467=) c.1704G= (p.Gln568=) c.1938G= (p.Gln646=) c.1734+16771G= (n.1734+16771G=) | |
| 3 | g.32997285C>G | CA352000737 | GLB1 | c.1794G>C (p.Gln598His) c.1401G>C (p.Gln467His) c.1704G>C (p.Gln568His) c.1938G>C (p.Gln646His) c.1734+16771G>C (n.1734+16771G>C) | gnomAD v4 |
| 3 | g.32997285C>T | CA2299294 | GLB1 | c.1794G>A (p.Gln598=) c.1401G>A (p.Gln467=) c.1704G>A (p.Gln568=) c.1938G>A (p.Gln646=) c.1734+16771G>A (n.1734+16771G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.32997286T>A | CA352000739 | GLB1 | c.1793A>T (p.Gln598Leu) c.1400A>T (p.Gln467Leu) c.1703A>T (p.Gln568Leu) c.1937A>T (p.Gln646Leu) c.1734+16770A>T (n.1734+16770A>T) | |
| 3 | g.32997286T>C | CA2299295 | GLB1 | c.1793A>G (p.Gln598Arg) c.1400A>G (p.Gln467Arg) c.1703A>G (p.Gln568Arg) c.1937A>G (p.Gln646Arg) c.1734+16770A>G (n.1734+16770A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.32997286T>G | CA352000738 | GLB1 | c.1793A>C (p.Gln598Pro) c.1400A>C (p.Gln467Pro) c.1703A>C (p.Gln568Pro) c.1937A>C (p.Gln646Pro) c.1734+16770A>C (n.1734+16770A>C) | |
| 3 | g.32997286T= | CA1355976975 | GLB1 | c.1793A= (p.Gln598=) c.1400A= (p.Gln467=) c.1703A= (p.Gln568=) c.1937A= (p.Gln646=) c.1734+16770A= (n.1734+16770A=) | |
| 3 | g.32997287G>A | CA352000740 | GLB1 | c.1792C>T (p.Gln598Ter) c.1399C>T (p.Gln467Ter) c.1702C>T (p.Gln568Ter) c.1936C>T (p.Gln646Ter) c.1734+16769C>T (n.1734+16769C>T) | dbSNP |
| 3 | g.32997287G>C | CA352000741 | GLB1 | c.1792C>G (p.Gln598Glu) c.1399C>G (p.Gln467Glu) c.1702C>G (p.Gln568Glu) c.1936C>G (p.Gln646Glu) c.1734+16769C>G (n.1734+16769C>G) | |
| 3 | g.32997287G= | CA1355976976 | GLB1 | c.1792C= (p.Gln598=) c.1399C= (p.Gln467=) c.1702C= (p.Gln568=) c.1936C= (p.Gln646=) c.1734+16769C= (n.1734+16769C=) | |
| 3 | g.32997287G>T | CA352000742 | GLB1 | c.1792C>A (p.Gln598Lys) c.1399C>A (p.Gln467Lys) c.1702C>A (p.Gln568Lys) c.1936C>A (p.Gln646Lys) c.1734+16769C>A (n.1734+16769C>A) | |
| 3 | g.32997288A>C | CA432960415 | GLB1 | c.1791T>G (p.Pro597=) c.1398T>G (p.Pro466=) c.1701T>G (p.Pro567=) c.1935T>G (p.Pro645=) c.1734+16768T>G (n.1734+16768T>G) | |
| 3 | g.32997288A>G | CA432960416 | GLB1 | c.1791T>C (p.Pro597=) c.1398T>C (p.Pro466=) c.1701T>C (p.Pro567=) c.1935T>C (p.Pro645=) c.1734+16768T>C (n.1734+16768T>C) | |
| 3 | g.32997288A>T | CA432960417 | GLB1 | c.1791T>A (p.Pro597=) c.1398T>A (p.Pro466=) c.1701T>A (p.Pro567=) c.1935T>A (p.Pro645=) c.1734+16768T>A (n.1734+16768T>A) | |
| 3 | g.32997289G>A | CA352000743 | GLB1 | c.1790C>T (p.Pro597Leu) c.1397C>T (p.Pro466Leu) c.1700C>T (p.Pro567Leu) c.1934C>T (p.Pro645Leu) c.1734+16767C>T (n.1734+16767C>T) | |
| 3 | g.32997289G>C | CA352000744 | GLB1 | c.1790C>G (p.Pro597Arg) c.1397C>G (p.Pro466Arg) c.1700C>G (p.Pro567Arg) c.1934C>G (p.Pro645Arg) c.1734+16767C>G (n.1734+16767C>G) | gnomAD v4 |
| 3 | g.32997289G>T | CA352000745 | GLB1 | c.1790C>A (p.Pro597His) c.1397C>A (p.Pro466His) c.1700C>A (p.Pro567His) c.1934C>A (p.Pro645His) c.1734+16767C>A (n.1734+16767C>A) | |
| 3 | g.32997290G>A | CA352000748 | GLB1 | c.1789C>T (p.Pro597Ser) c.1396C>T (p.Pro466Ser) c.1699C>T (p.Pro567Ser) c.1933C>T (p.Pro645Ser) c.1734+16766C>T (n.1734+16766C>T) | gnomAD v4 |
| 3 | g.32997290G>C | CA352000747 | GLB1 | c.1789C>G (p.Pro597Ala) c.1396C>G (p.Pro466Ala) c.1699C>G (p.Pro567Ala) c.1933C>G (p.Pro645Ala) c.1734+16766C>G (n.1734+16766C>G) | |
| 3 | g.32997290G>T | CA352000746 | GLB1 | c.1789C>A (p.Pro597Thr) c.1396C>A (p.Pro466Thr) c.1699C>A (p.Pro567Thr) c.1933C>A (p.Pro645Thr) c.1734+16766C>A (n.1734+16766C>A) | |
| 3 | g.32997291G>A | CA432960418 | GLB1 | c.1788C>T (p.Gly596=) c.1395C>T (p.Gly465=) c.1698C>T (p.Gly566=) c.1932C>T (p.Gly644=) c.1734+16765C>T (n.1734+16765C>T) | |
| 3 | g.32997291G>C | CA432960419 | GLB1 | c.1788C>G (p.Gly596=) c.1395C>G (p.Gly465=) c.1698C>G (p.Gly566=) c.1932C>G (p.Gly644=) c.1734+16765C>G (n.1734+16765C>G) | |
| 3 | g.32997291G>T | CA432960420 | GLB1 | c.1788C>A (p.Gly596=) c.1395C>A (p.Gly465=) c.1698C>A (p.Gly566=) c.1932C>A (p.Gly644=) c.1734+16765C>A (n.1734+16765C>A) | dbSNP |
| 3 | g.32997292C>A | CA352000749 | GLB1 | c.1787G>T (p.Gly596Val) c.1394G>T (p.Gly465Val) c.1697G>T (p.Gly566Val) c.1931G>T (p.Gly644Val) c.1734+16764G>T (n.1734+16764G>T) | |
| 3 | g.32997292C= | CA1355976977 | GLB1 | c.1787G= (p.Gly596=) c.1394G= (p.Gly465=) c.1697G= (p.Gly566=) c.1931G= (p.Gly644=) c.1734+16764G= (n.1734+16764G=) | |
| 3 | g.32997292C>G | CA352000750 | GLB1 | c.1787G>C (p.Gly596Ala) c.1394G>C (p.Gly465Ala) c.1697G>C (p.Gly566Ala) c.1931G>C (p.Gly644Ala) c.1734+16764G>C (n.1734+16764G>C) | |
| 3 | g.32997292C>T | CA352000751 | GLB1 | c.1787G>A (p.Gly596Asp) c.1394G>A (p.Gly465Asp) c.1697G>A (p.Gly566Asp) c.1931G>A (p.Gly644Asp) c.1734+16764G>A (n.1734+16764G>A) | ClinVar dbSNP |
| 3 | g.32997295dup | CA2514682387 | GLB1 | c.1787dup (p.Gln598SerfsTer?) c.1394dup (p.Gln467SerfsTer?) c.1697dup (p.Gln568SerfsTer?) c.1931dup (p.Gln646SerfsTer?) c.1734+16764dup (n.1734+16764dup) | |
| 3 | g.32997293C>A | CA352000752 | GLB1 | c.1786G>T (p.Gly596Cys) c.1393G>T (p.Gly465Cys) c.1696G>T (p.Gly566Cys) c.1930G>T (p.Gly644Cys) c.1734+16763G>T (n.1734+16763G>T) | |
| 3 | g.32997293C>G | CA352000753 | GLB1 | c.1786G>C (p.Gly596Arg) c.1393G>C (p.Gly465Arg) c.1696G>C (p.Gly566Arg) c.1930G>C (p.Gly644Arg) c.1734+16763G>C (n.1734+16763G>C) | |
| 3 | g.32997293C>T | CA352000754 | GLB1 | c.1786G>A (p.Gly596Ser) c.1393G>A (p.Gly465Ser) c.1696G>A (p.Gly566Ser) c.1930G>A (p.Gly644Ser) c.1734+16763G>A (n.1734+16763G>A) | |
| 3 | g.32997294C>A | CA432960421 | GLB1 | c.1785G>T (p.Arg595=) c.1392G>T (p.Arg464=) c.1695G>T (p.Arg565=) c.1929G>T (p.Arg643=) c.1734+16762G>T (n.1734+16762G>T) | |
| 3 | g.32997294C>G | CA432960422 | GLB1 | c.1785G>C (p.Arg595=) c.1392G>C (p.Arg464=) c.1695G>C (p.Arg565=) c.1929G>C (p.Arg643=) c.1734+16762G>C (n.1734+16762G>C) | |
| 3 | g.32997294C>T | CA432960423 | GLB1 | c.1785G>A (p.Arg595=) c.1392G>A (p.Arg464=) c.1695G>A (p.Arg565=) c.1929G>A (p.Arg643=) c.1734+16762G>A (n.1734+16762G>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.32997295C>A | CA352000755 | GLB1 | c.1784G>T (p.Arg595Leu) c.1391G>T (p.Arg464Leu) c.1694G>T (p.Arg565Leu) c.1928G>T (p.Arg643Leu) c.1734+16761G>T (n.1734+16761G>T) | COSMIC COSMIC |
| 3 | g.32997295C= | CA1355976978 | GLB1 | c.1784G= (p.Arg595=) c.1391G= (p.Arg464=) c.1694G= (p.Arg565=) c.1928G= (p.Arg643=) c.1734+16761G= (n.1734+16761G=) | |
| 3 | g.32997295C>G | CA352000756 | GLB1 | c.1784G>C (p.Arg595Pro) c.1391G>C (p.Arg464Pro) c.1694G>C (p.Arg565Pro) c.1928G>C (p.Arg643Pro) c.1734+16761G>C (n.1734+16761G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997295C>T | CA2299296 | GLB1 | c.1784G>A (p.Arg595Gln) c.1391G>A (p.Arg464Gln) c.1694G>A (p.Arg565Gln) c.1928G>A (p.Arg643Gln) c.1734+16761G>A (n.1734+16761G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997296G>A | CA2299297 | GLB1 | c.1783C>T (p.Arg595Trp) c.1390C>T (p.Arg464Trp) c.1693C>T (p.Arg565Trp) c.1927C>T (p.Arg643Trp) c.1734+16760C>T (n.1734+16760C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997296G>C | CA352000757 | GLB1 | c.1783C>G (p.Arg595Gly) c.1390C>G (p.Arg464Gly) c.1693C>G (p.Arg565Gly) c.1927C>G (p.Arg643Gly) c.1734+16760C>G (n.1734+16760C>G) | |
| 3 | g.32997296G= | CA1355976979 | GLB1 | c.1783C= (p.Arg595=) c.1390C= (p.Arg464=) c.1693C= (p.Arg565=) c.1927C= (p.Arg643=) c.1734+16760C= (n.1734+16760C=) | |
| 3 | g.32997296G>T | CA432960424 | GLB1 | c.1783C>A (p.Arg595=) c.1390C>A (p.Arg464=) c.1693C>A (p.Arg565=) c.1927C>A (p.Arg643=) c.1734+16760C>A (n.1734+16760C>A) | |
| 3 | g.32997297G>A | CA432960427 | GLB1 | c.1782C>T (p.Ala594=) c.1389C>T (p.Ala463=) c.1692C>T (p.Ala564=) c.1926C>T (p.Ala642=) c.1734+16759C>T (n.1734+16759C>T) | gnomAD v4 |
| 3 | g.32997297G>C | CA432960426 | GLB1 | c.1782C>G (p.Ala594=) c.1389C>G (p.Ala463=) c.1692C>G (p.Ala564=) c.1926C>G (p.Ala642=) c.1734+16759C>G (n.1734+16759C>G) | |
| 3 | g.32997297G>T | CA432960425 | GLB1 | c.1782C>A (p.Ala594=) c.1389C>A (p.Ala463=) c.1692C>A (p.Ala564=) c.1926C>A (p.Ala642=) c.1734+16759C>A (n.1734+16759C>A) | |
| 3 | g.32997298G>A | CA352000758 | GLB1 | c.1781C>T (p.Ala594Val) c.1388C>T (p.Ala463Val) c.1691C>T (p.Ala564Val) c.1925C>T (p.Ala642Val) c.1734+16758C>T (n.1734+16758C>T) | |
| 3 | g.32997298G>C | CA352000759 | GLB1 | c.1781C>G (p.Ala594Gly) c.1388C>G (p.Ala463Gly) c.1691C>G (p.Ala564Gly) c.1925C>G (p.Ala642Gly) c.1734+16758C>G (n.1734+16758C>G) | gnomAD v4 |
| 3 | g.32997298G>T | CA352000760 | GLB1 | c.1781C>A (p.Ala594Asp) c.1388C>A (p.Ala463Asp) c.1691C>A (p.Ala564Asp) c.1925C>A (p.Ala642Asp) c.1734+16758C>A (n.1734+16758C>A) | |
| 3 | g.32997299C>A | CA352000761 | GLB1 | c.1780G>T (p.Ala594Ser) c.1387G>T (p.Ala463Ser) c.1690G>T (p.Ala564Ser) c.1924G>T (p.Ala642Ser) c.1734+16757G>T (n.1734+16757G>T) | |
| 3 | g.32997299C>G | CA352000762 | GLB1 | c.1780G>C (p.Ala594Pro) c.1387G>C (p.Ala463Pro) c.1690G>C (p.Ala564Pro) c.1924G>C (p.Ala642Pro) c.1734+16757G>C (n.1734+16757G>C) | |
| 3 | g.32997299C>T | CA352000763 | GLB1 | c.1780G>A (p.Ala594Thr) c.1387G>A (p.Ala463Thr) c.1690G>A (p.Ala564Thr) c.1924G>A (p.Ala642Thr) c.1734+16757G>A (n.1734+16757G>A) | gnomAD v4 |
| 3 | g.32997300T>A | CA432960428 | GLB1 | c.1779A>T (p.Pro593=) c.1386A>T (p.Pro462=) c.1689A>T (p.Pro563=) c.1923A>T (p.Pro641=) c.1734+16756A>T (n.1734+16756A>T) | |
| 3 | g.32997300T>C | CA432960429 | GLB1 | c.1779A>G (p.Pro593=) c.1386A>G (p.Pro462=) c.1689A>G (p.Pro563=) c.1923A>G (p.Pro641=) c.1734+16756A>G (n.1734+16756A>G) | |
| 3 | g.32997300T>G | CA432960430 | GLB1 | c.1779A>C (p.Pro593=) c.1386A>C (p.Pro462=) c.1689A>C (p.Pro563=) c.1923A>C (p.Pro641=) c.1734+16756A>C (n.1734+16756A>C) | |
| 3 | g.32997301G>A | CA352000764 | GLB1 | c.1778C>T (p.Pro593Leu) c.1385C>T (p.Pro462Leu) c.1688C>T (p.Pro563Leu) c.1922C>T (p.Pro641Leu) c.1734+16755C>T (n.1734+16755C>T) | COSMIC |
| 3 | g.32997301G>C | CA352000765 | GLB1 | c.1778C>G (p.Pro593Arg) c.1385C>G (p.Pro462Arg) c.1688C>G (p.Pro563Arg) c.1922C>G (p.Pro641Arg) c.1734+16755C>G (n.1734+16755C>G) | |
| 3 | g.32997301G>T | CA352000766 | GLB1 | c.1778C>A (p.Pro593Gln) c.1385C>A (p.Pro462Gln) c.1688C>A (p.Pro563Gln) c.1922C>A (p.Pro641Gln) c.1734+16755C>A (n.1734+16755C>A) | |
| 3 | g.32997302del | CA2586971833 | GLB1 | c.1778del (p.Pro593GlnfsTer7) c.1385del (p.Pro462GlnfsTer7) c.1688del (p.Pro563GlnfsTer7) c.1922del (p.Pro641GlnfsTer7) c.1734+16755del (n.1734+16755del) | |
| 3 | g.32997302G>A | CA352000767 | GLB1 | c.1777C>T (p.Pro593Ser) c.1384C>T (p.Pro462Ser) c.1687C>T (p.Pro563Ser) c.1921C>T (p.Pro641Ser) c.1734+16754C>T (n.1734+16754C>T) | dbSNP |
| 3 | g.32997302G>C | CA352000769 | GLB1 | c.1777C>G (p.Pro593Ala) c.1384C>G (p.Pro462Ala) c.1687C>G (p.Pro563Ala) c.1921C>G (p.Pro641Ala) c.1734+16754C>G (n.1734+16754C>G) | |
| 3 | g.32997302G>T | CA352000768 | GLB1 | c.1777C>A (p.Pro593Thr) c.1384C>A (p.Pro462Thr) c.1687C>A (p.Pro563Thr) c.1921C>A (p.Pro641Thr) c.1734+16754C>A (n.1734+16754C>A) | |
| 3 | g.32997303C>A | CA352000770 | GLB1 | c.1776G>T (p.Trp592Cys) c.1383G>T (p.Trp461Cys) c.1686G>T (p.Trp562Cys) c.1920G>T (p.Trp640Cys) c.1734+16753G>T (n.1734+16753G>T) | |
| 3 | g.32997303C>G | CA352000771 | GLB1 | c.1776G>C (p.Trp592Cys) c.1383G>C (p.Trp461Cys) c.1686G>C (p.Trp562Cys) c.1920G>C (p.Trp640Cys) c.1734+16753G>C (n.1734+16753G>C) | |
| 3 | g.32997303C>T | CA352000772 | GLB1 | c.1776G>A (p.Trp592Ter) c.1383G>A (p.Trp461Ter) c.1686G>A (p.Trp562Ter) c.1920G>A (p.Trp640Ter) c.1734+16753G>A (n.1734+16753G>A) | |
| 3 | g.32997304C>A | CA352000773 | GLB1 | c.1775G>T (p.Trp592Leu) c.1382G>T (p.Trp461Leu) c.1685G>T (p.Trp562Leu) c.1919G>T (p.Trp640Leu) c.1734+16752G>T (n.1734+16752G>T) | |
| 3 | g.32997304C= | CA1355976980 | GLB1 | c.1775G= (p.Trp592=) c.1382G= (p.Trp461=) c.1685G= (p.Trp562=) c.1919G= (p.Trp640=) c.1734+16752G= (n.1734+16752G=) | |
| 3 | g.32997304C>G | CA352000774 | GLB1 | c.1775G>C (p.Trp592Ser) c.1382G>C (p.Trp461Ser) c.1685G>C (p.Trp562Ser) c.1919G>C (p.Trp640Ser) c.1734+16752G>C (n.1734+16752G>C) | |
| 3 | g.32997304C>T | CA352000775 | GLB1 | c.1775G>A (p.Trp592Ter) c.1382G>A (p.Trp461Ter) c.1685G>A (p.Trp562Ter) c.1919G>A (p.Trp640Ter) c.1734+16752G>A (n.1734+16752G>A) | dbSNP gnomAD v4 |
| 3 | g.32997305A>C | CA352000776 | GLB1 | c.1774T>G (p.Trp592Gly) c.1381T>G (p.Trp461Gly) c.1684T>G (p.Trp562Gly) c.1918T>G (p.Trp640Gly) c.1734+16751T>G (n.1734+16751T>G) | |
| 3 | g.32997305A>G | CA352000777 | GLB1 | c.1774T>C (p.Trp592Arg) c.1381T>C (p.Trp461Arg) c.1684T>C (p.Trp562Arg) c.1918T>C (p.Trp640Arg) c.1734+16751T>C (n.1734+16751T>C) | |
| 3 | g.32997305A>T | CA352000778 | GLB1 | c.1774T>A (p.Trp592Arg) c.1381T>A (p.Trp461Arg) c.1684T>A (p.Trp562Arg) c.1918T>A (p.Trp640Arg) c.1734+16751T>A (n.1734+16751T>A) | |
| 3 | g.32997306A>C | CA352000779 | GLB1 | c.1773T>G (p.Tyr591Ter) c.1380T>G (p.Tyr460Ter) c.1683T>G (p.Tyr561Ter) c.1917T>G (p.Tyr639Ter) c.1734+16750T>G (n.1734+16750T>G) | |
| 3 | g.32997306A>G | CA432960431 | GLB1 | c.1773T>C (p.Tyr591=) c.1380T>C (p.Tyr460=) c.1683T>C (p.Tyr561=) c.1917T>C (p.Tyr639=) c.1734+16750T>C (n.1734+16750T>C) | gnomAD v4 |
| 3 | g.32997306A>T | CA352000780 | GLB1 | c.1773T>A (p.Tyr591Ter) c.1380T>A (p.Tyr460Ter) c.1683T>A (p.Tyr561Ter) c.1917T>A (p.Tyr639Ter) c.1734+16750T>A (n.1734+16750T>A) | |
| 3 | g.32997307T>A | CA352000781 | GLB1 | c.1772A>T (p.Tyr591Phe) c.1379A>T (p.Tyr460Phe) c.1682A>T (p.Tyr561Phe) c.1916A>T (p.Tyr639Phe) c.1734+16749A>T (n.1734+16749A>T) | |
| 3 | g.32997307T>C | CA114671 | GLB1 | c.1772A>G (p.Tyr591Cys) c.1379A>G (p.Tyr460Cys) c.1682A>G (p.Tyr561Cys) c.1916A>G (p.Tyr639Cys) c.1734+16749A>G (n.1734+16749A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.32997307T>G | CA72667244 | GLB1 | c.1772A>C (p.Tyr591Ser) c.1379A>C (p.Tyr460Ser) c.1682A>C (p.Tyr561Ser) c.1916A>C (p.Tyr639Ser) c.1734+16749A>C (n.1734+16749A>C) | ClinVar dbSNP |
| 3 | g.32997307T= | CA1355976981 | GLB1 | c.1772A= (p.Tyr591=) c.1379A= (p.Tyr460=) c.1682A= (p.Tyr561=) c.1916A= (p.Tyr639=) c.1734+16749A= (n.1734+16749A=) | |
| 3 | g.32997308A= | CA1355976982 | GLB1 | c.1771T= (p.Tyr591=) c.1378T= (p.Tyr460=) c.1681T= (p.Tyr561=) c.1915T= (p.Tyr639=) c.1734+16748T= (n.1734+16748T=) | |
| 3 | g.32997308A>C | CA352000782 | GLB1 | c.1771T>G (p.Tyr591Asp) c.1378T>G (p.Tyr460Asp) c.1681T>G (p.Tyr561Asp) c.1915T>G (p.Tyr639Asp) c.1734+16748T>G (n.1734+16748T>G) | |
| 3 | g.32997308A>G | CA2299298 | GLB1 | c.1771T>C (p.Tyr591His) c.1378T>C (p.Tyr460His) c.1681T>C (p.Tyr561His) c.1915T>C (p.Tyr639His) c.1734+16748T>C (n.1734+16748T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997308A>T | CA114669 | GLB1 | c.1771T>A (p.Tyr591Asn) c.1378T>A (p.Tyr460Asn) c.1681T>A (p.Tyr561Asn) c.1915T>A (p.Tyr639Asn) c.1734+16748T>A (n.1734+16748T>A) | ClinVar dbSNP |
| 3 | g.32997309G>A | CA432960432 | GLB1 | c.1770C>T (p.Arg590=) c.1377C>T (p.Arg459=) c.1680C>T (p.Arg560=) c.1914C>T (p.Arg638=) c.1734+16747C>T (n.1734+16747C>T) | |
| 3 | g.32997309G>C | CA432960433 | GLB1 | c.1770C>G (p.Arg590=) c.1377C>G (p.Arg459=) c.1680C>G (p.Arg560=) c.1914C>G (p.Arg638=) c.1734+16747C>G (n.1734+16747C>G) | |
| 3 | g.32997309G>T | CA432960434 | GLB1 | c.1770C>A (p.Arg590=) c.1377C>A (p.Arg459=) c.1680C>A (p.Arg560=) c.1914C>A (p.Arg638=) c.1734+16747C>A (n.1734+16747C>A) | |
| 3 | g.32997310del | CA2664926661 | GLB1 | c.1769del (p.Arg590ProfsTer10) c.1376del (p.Arg459ProfsTer10) c.1679del (p.Arg560ProfsTer10) c.1913del (p.Arg638ProfsTer10) c.1734+16746del (n.1734+16746del) | gnomAD v4 |
| 3 | g.32997310C>A | CA352000783 | GLB1 | c.1769G>T (p.Arg590Leu) c.1376G>T (p.Arg459Leu) c.1679G>T (p.Arg560Leu) c.1913G>T (p.Arg638Leu) c.1734+16746G>T (n.1734+16746G>T) | |
| 3 | g.32997310C= | CA1355976983 | GLB1 | c.1769G= (p.Arg590=) c.1376G= (p.Arg459=) c.1679G= (p.Arg560=) c.1913G= (p.Arg638=) c.1734+16746G= (n.1734+16746G=) | |
| 3 | g.32997310C>G | CA352000784 | GLB1 | c.1769G>C (p.Arg590Pro) c.1376G>C (p.Arg459Pro) c.1679G>C (p.Arg560Pro) c.1913G>C (p.Arg638Pro) c.1734+16746G>C (n.1734+16746G>C) | |
| 3 | g.32997310C>T | CA201251 | GLB1 | c.1769G>A (p.Arg590His) c.1376G>A (p.Arg459His) c.1679G>A (p.Arg560His) c.1913G>A (p.Arg638His) c.1734+16746G>A (n.1734+16746G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997311G>A | CA201253 | GLB1 | c.1768C>T (p.Arg590Cys) c.1375C>T (p.Arg459Cys) c.1678C>T (p.Arg560Cys) c.1912C>T (p.Arg638Cys) c.1734+16745C>T (n.1734+16745C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997311G>C | CA352000785 | GLB1 | c.1768C>G (p.Arg590Gly) c.1375C>G (p.Arg459Gly) c.1678C>G (p.Arg560Gly) c.1912C>G (p.Arg638Gly) c.1734+16745C>G (n.1734+16745C>G) | ClinVar |
| 3 | g.32997311G= | CA1355976984 | GLB1 | c.1768C= (p.Arg590=) c.1375C= (p.Arg459=) c.1678C= (p.Arg560=) c.1912C= (p.Arg638=) c.1734+16745C= (n.1734+16745C=) | |
| 3 | g.32997311G>T | CA352000786 | GLB1 | c.1768C>A (p.Arg590Ser) c.1375C>A (p.Arg459Ser) c.1678C>A (p.Arg560Ser) c.1912C>A (p.Arg638Ser) c.1734+16745C>A (n.1734+16745C>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.32997312G>A | CA2299299 | GLB1 | c.1767C>T (p.Gly589=) c.1374C>T (p.Gly458=) c.1677C>T (p.Gly559=) c.1911C>T (p.Gly637=) c.1734+16744C>T (n.1734+16744C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997312G>C | CA432960436 | GLB1 | c.1767C>G (p.Gly589=) c.1374C>G (p.Gly458=) c.1677C>G (p.Gly559=) c.1911C>G (p.Gly637=) c.1734+16744C>G (n.1734+16744C>G) | |
| 3 | g.32997312G= | CA1355976985 | GLB1 | c.1767C= (p.Gly589=) c.1374C= (p.Gly458=) c.1677C= (p.Gly559=) c.1911C= (p.Gly637=) c.1734+16744C= (n.1734+16744C=) | |
| 3 | g.32997312G>T | CA432960435 | GLB1 | c.1767C>A (p.Gly589=) c.1374C>A (p.Gly458=) c.1677C>A (p.Gly559=) c.1911C>A (p.Gly637=) c.1734+16744C>A (n.1734+16744C>A) | |
| 3 | g.32997313C>A | CA352000787 | GLB1 | c.1766G>T (p.Gly589Val) c.1373G>T (p.Gly458Val) c.1676G>T (p.Gly559Val) c.1910G>T (p.Gly637Val) c.1734+16743G>T (n.1734+16743G>T) | |
| 3 | g.32997313C= | CA1355976986 | GLB1 | c.1766G= (p.Gly589=) c.1373G= (p.Gly458=) c.1676G= (p.Gly559=) c.1910G= (p.Gly637=) c.1734+16743G= (n.1734+16743G=) | |
| 3 | g.32997313C>G | CA72667259 | GLB1 | c.1766G>C (p.Gly589Ala) c.1373G>C (p.Gly458Ala) c.1676G>C (p.Gly559Ala) c.1910G>C (p.Gly637Ala) c.1734+16743G>C (n.1734+16743G>C) | dbSNP |
| 3 | g.32997313C>T | CA352000788 | GLB1 | c.1766G>A (p.Gly589Asp) c.1373G>A (p.Gly458Asp) c.1676G>A (p.Gly559Asp) c.1910G>A (p.Gly637Asp) c.1734+16743G>A (n.1734+16743G>A) | gnomAD v4 |
| 3 | g.32997314C>A | CA352000790 | GLB1 | c.1765G>T (p.Gly589Cys) c.1372G>T (p.Gly458Cys) c.1675G>T (p.Gly559Cys) c.1909G>T (p.Gly637Cys) c.1734+16742G>T (n.1734+16742G>T) | |
| 3 | g.32997314C>G | CA352000791 | GLB1 | c.1765G>C (p.Gly589Arg) c.1372G>C (p.Gly458Arg) c.1675G>C (p.Gly559Arg) c.1909G>C (p.Gly637Arg) c.1734+16742G>C (n.1734+16742G>C) | |
| 3 | g.32997314C>T | CA352000789 | GLB1 | c.1765G>A (p.Gly589Ser) c.1372G>A (p.Gly458Ser) c.1675G>A (p.Gly559Ser) c.1909G>A (p.Gly637Ser) c.1734+16742G>A (n.1734+16742G>A) | |
| 3 | g.32997315A>C | CA432960437 | GLB1 | c.1764T>G (p.Leu588=) c.1371T>G (p.Leu457=) c.1674T>G (p.Leu558=) c.1908T>G (p.Leu636=) c.1734+16741T>G (n.1734+16741T>G) | gnomAD v4 |
| 3 | g.32997315A>G | CA432960438 | GLB1 | c.1764T>C (p.Leu588=) c.1371T>C (p.Leu457=) c.1674T>C (p.Leu558=) c.1908T>C (p.Leu636=) c.1734+16741T>C (n.1734+16741T>C) | ClinVar dbSNP |
| 3 | g.32997315A>T | CA432960439 | GLB1 | c.1764T>A (p.Leu588=) c.1371T>A (p.Leu457=) c.1674T>A (p.Leu558=) c.1908T>A (p.Leu636=) c.1734+16741T>A (n.1734+16741T>A) | |
| 3 | g.32997316A>C | CA352000794 | GLB1 | c.1763T>G (p.Leu588Arg) c.1370T>G (p.Leu457Arg) c.1673T>G (p.Leu558Arg) c.1907T>G (p.Leu636Arg) c.1734+16740T>G (n.1734+16740T>G) | dbSNP |
| 3 | g.32997316A>G | CA352000792 | GLB1 | c.1763T>C (p.Leu588Pro) c.1370T>C (p.Leu457Pro) c.1673T>C (p.Leu558Pro) c.1907T>C (p.Leu636Pro) c.1734+16740T>C (n.1734+16740T>C) | |
| 3 | g.32997316A>T | CA352000793 | GLB1 | c.1763T>A (p.Leu588His) c.1370T>A (p.Leu457His) c.1673T>A (p.Leu558His) c.1907T>A (p.Leu636His) c.1734+16740T>A (n.1734+16740T>A) | |
| 3 | g.32997317G>A | CA352000795 | GLB1 | c.1762C>T (p.Leu588Phe) c.1369C>T (p.Leu457Phe) c.1672C>T (p.Leu558Phe) c.1906C>T (p.Leu636Phe) c.1734+16739C>T (n.1734+16739C>T) | |
| 3 | g.32997317G>C | CA352000796 | GLB1 | c.1762C>G (p.Leu588Val) c.1369C>G (p.Leu457Val) c.1672C>G (p.Leu558Val) c.1906C>G (p.Leu636Val) c.1734+16739C>G (n.1734+16739C>G) | dbSNP gnomAD v4 |
| 3 | g.32997317G= | CA1355976987 | GLB1 | c.1762C= (p.Leu588=) c.1369C= (p.Leu457=) c.1672C= (p.Leu558=) c.1906C= (p.Leu636=) c.1734+16739C= (n.1734+16739C=) | |
| 3 | g.32997317G>T | CA352000797 | GLB1 | c.1762C>A (p.Leu588Ile) c.1369C>A (p.Leu457Ile) c.1672C>A (p.Leu558Ile) c.1906C>A (p.Leu636Ile) c.1734+16739C>A (n.1734+16739C>A) | COSMIC COSMIC |
| 3 | g.32997318G>A | CA432960440 | GLB1 | c.1761C>T (p.Asn587=) c.1368C>T (p.Asn456=) c.1671C>T (p.Asn557=) c.1905C>T (p.Asn635=) c.1734+16738C>T (n.1734+16738C>T) | ClinVar |
| 3 | g.32997318G>C | CA352000798 | GLB1 | c.1761C>G (p.Asn587Lys) c.1368C>G (p.Asn456Lys) c.1671C>G (p.Asn557Lys) c.1905C>G (p.Asn635Lys) c.1734+16738C>G (n.1734+16738C>G) | |
| 3 | g.32997318G>T | CA352000799 | GLB1 | c.1761C>A (p.Asn587Lys) c.1368C>A (p.Asn456Lys) c.1671C>A (p.Asn557Lys) c.1905C>A (p.Asn635Lys) c.1734+16738C>A (n.1734+16738C>A) | |
| 3 | g.32997319T>A | CA352000802 | GLB1 | c.1760A>T (p.Asn587Ile) c.1367A>T (p.Asn456Ile) c.1670A>T (p.Asn557Ile) c.1904A>T (p.Asn635Ile) c.1734+16737A>T (n.1734+16737A>T) | |
| 3 | g.32997319T>C | CA352000800 | GLB1 | c.1760A>G (p.Asn587Ser) c.1367A>G (p.Asn456Ser) c.1670A>G (p.Asn557Ser) c.1904A>G (p.Asn635Ser) c.1734+16737A>G (n.1734+16737A>G) | |
| 3 | g.32997319T>G | CA352000801 | GLB1 | c.1760A>C (p.Asn587Thr) c.1367A>C (p.Asn456Thr) c.1670A>C (p.Asn557Thr) c.1904A>C (p.Asn635Thr) c.1734+16737A>C (n.1734+16737A>C) | |
| 3 | g.32997320T>A | CA352000803 | GLB1 | c.1759A>T (p.Asn587Tyr) c.1366A>T (p.Asn456Tyr) c.1669A>T (p.Asn557Tyr) c.1903A>T (p.Asn635Tyr) c.1734+16736A>T (n.1734+16736A>T) | |
| 3 | g.32997320T>C | CA352000804 | GLB1 | c.1759A>G (p.Asn587Asp) c.1366A>G (p.Asn456Asp) c.1669A>G (p.Asn557Asp) c.1903A>G (p.Asn635Asp) c.1734+16736A>G (n.1734+16736A>G) | |
| 3 | g.32997320T>G | CA352000805 | GLB1 | c.1759A>C (p.Asn587His) c.1366A>C (p.Asn456His) c.1669A>C (p.Asn557His) c.1903A>C (p.Asn635His) c.1734+16736A>C (n.1734+16736A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.32997320T= | CA1355976988 | GLB1 | c.1759A= (p.Asn587=) c.1366A= (p.Asn456=) c.1669A= (p.Asn557=) c.1903A= (p.Asn635=) c.1734+16736A= (n.1734+16736A=) | |
| 3 | g.32997321A>C | CA352000806 | GLB1 | c.1758T>G (p.Phe586Leu) c.1365T>G (p.Phe455Leu) c.1668T>G (p.Phe556Leu) c.1902T>G (p.Phe634Leu) c.1734+16735T>G (n.1734+16735T>G) | |
| 3 | g.32997321A>G | CA432960441 | GLB1 | c.1758T>C (p.Phe586=) c.1365T>C (p.Phe455=) c.1668T>C (p.Phe556=) c.1902T>C (p.Phe634=) c.1734+16735T>C (n.1734+16735T>C) | |
| 3 | g.32997321A>T | CA352000807 | GLB1 | c.1758T>A (p.Phe586Leu) c.1365T>A (p.Phe455Leu) c.1668T>A (p.Phe556Leu) c.1902T>A (p.Phe634Leu) c.1734+16735T>A (n.1734+16735T>A) | |
| 3 | g.32997322A>C | CA352000808 | GLB1 | c.1757T>G (p.Phe586Cys) c.1364T>G (p.Phe455Cys) c.1667T>G (p.Phe556Cys) c.1901T>G (p.Phe634Cys) c.1734+16734T>G (n.1734+16734T>G) | |
| 3 | g.32997322A>G | CA352000810 | GLB1 | c.1757T>C (p.Phe586Ser) c.1364T>C (p.Phe455Ser) c.1667T>C (p.Phe556Ser) c.1901T>C (p.Phe634Ser) c.1734+16734T>C (n.1734+16734T>C) | |
| 3 | g.32997322A>T | CA352000809 | GLB1 | c.1757T>A (p.Phe586Tyr) c.1364T>A (p.Phe455Tyr) c.1667T>A (p.Phe556Tyr) c.1901T>A (p.Phe634Tyr) c.1734+16734T>A (n.1734+16734T>A) | |
| 3 | g.32997323A>C | CA352000811 | GLB1 | c.1756T>G (p.Phe586Val) c.1363T>G (p.Phe455Val) c.1666T>G (p.Phe556Val) c.1900T>G (p.Phe634Val) c.1734+16733T>G (n.1734+16733T>G) | |
| 3 | g.32997323A>G | CA352000812 | GLB1 | c.1756T>C (p.Phe586Leu) c.1363T>C (p.Phe455Leu) c.1666T>C (p.Phe556Leu) c.1900T>C (p.Phe634Leu) c.1734+16733T>C (n.1734+16733T>C) | |
| 3 | g.32997323A>T | CA352000813 | GLB1 | c.1756T>A (p.Phe586Ile) c.1363T>A (p.Phe455Ile) c.1666T>A (p.Phe556Ile) c.1900T>A (p.Phe634Ile) c.1734+16733T>A (n.1734+16733T>A) | |
| 3 | g.32997324G>A | CA432960442 | GLB1 | c.1755C>T (p.Gly585=) c.1362C>T (p.Gly454=) c.1665C>T (p.Gly555=) c.1899C>T (p.Gly633=) c.1734+16732C>T (n.1734+16732C>T) | |
| 3 | g.32997324G>C | CA432960443 | GLB1 | c.1755C>G (p.Gly585=) c.1362C>G (p.Gly454=) c.1665C>G (p.Gly555=) c.1899C>G (p.Gly633=) c.1734+16732C>G (n.1734+16732C>G) | |
| 3 | g.32997324G>T | CA432960444 | GLB1 | c.1755C>A (p.Gly585=) c.1362C>A (p.Gly454=) c.1665C>A (p.Gly555=) c.1899C>A (p.Gly633=) c.1734+16732C>A (n.1734+16732C>A) | |
| 3 | g.32997325C>A | CA352000814 | GLB1 | c.1754G>T (p.Gly585Val) c.1361G>T (p.Gly454Val) c.1664G>T (p.Gly555Val) c.1898G>T (p.Gly633Val) c.1734+16731G>T (n.1734+16731G>T) | dbSNP gnomAD v4 |
| 3 | g.32997325C= | CA1355976989 | GLB1 | c.1754G= (p.Gly585=) c.1361G= (p.Gly454=) c.1664G= (p.Gly555=) c.1898G= (p.Gly633=) c.1734+16731G= (n.1734+16731G=) | |
| 3 | g.32997325C>G | CA352000815 | GLB1 | c.1754G>C (p.Gly585Ala) c.1361G>C (p.Gly454Ala) c.1664G>C (p.Gly555Ala) c.1898G>C (p.Gly633Ala) c.1734+16731G>C (n.1734+16731G>C) | |
| 3 | g.32997325C>T | CA352000816 | GLB1 | c.1754G>A (p.Gly585Asp) c.1361G>A (p.Gly454Asp) c.1664G>A (p.Gly555Asp) c.1898G>A (p.Gly633Asp) c.1734+16731G>A (n.1734+16731G>A) | |
| 3 | g.32997326C>A | CA352000817 | GLB1 | c.1753G>T (p.Gly585Cys) c.1360G>T (p.Gly454Cys) c.1663G>T (p.Gly555Cys) c.1897G>T (p.Gly633Cys) c.1734+16730G>T (n.1734+16730G>T) | |
| 3 | g.32997326C= | CA1355976990 | GLB1 | c.1753G= (p.Gly585=) c.1360G= (p.Gly454=) c.1663G= (p.Gly555=) c.1897G= (p.Gly633=) c.1734+16730G= (n.1734+16730G=) | |
| 3 | g.32997326C>G | CA352000818 | GLB1 | c.1753G>C (p.Gly585Arg) c.1360G>C (p.Gly454Arg) c.1663G>C (p.Gly555Arg) c.1897G>C (p.Gly633Arg) c.1734+16730G>C (n.1734+16730G>C) | |
| 3 | g.32997326C>T | CA352000819 | GLB1 | c.1753G>A (p.Gly585Ser) c.1360G>A (p.Gly454Ser) c.1663G>A (p.Gly555Ser) c.1897G>A (p.Gly633Ser) c.1734+16730G>A (n.1734+16730G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.32997327A>C | CA352000820 | GLB1 | c.1752T>G (p.Asn584Lys) c.1359T>G (p.Asn453Lys) c.1662T>G (p.Asn554Lys) c.1896T>G (p.Asn632Lys) c.1734+16729T>G (n.1734+16729T>G) | |
| 3 | g.32997327A>G | CA432960445 | GLB1 | c.1752T>C (p.Asn584=) c.1359T>C (p.Asn453=) c.1662T>C (p.Asn554=) c.1896T>C (p.Asn632=) c.1734+16729T>C (n.1734+16729T>C) | ClinVar dbSNP |
| 3 | g.32997327A>T | CA352000821 | GLB1 | c.1752T>A (p.Asn584Lys) c.1359T>A (p.Asn453Lys) c.1662T>A (p.Asn554Lys) c.1896T>A (p.Asn632Lys) c.1734+16729T>A (n.1734+16729T>A) | |
| 3 | g.32997328T>A | CA352000822 | GLB1 | c.1751A>T (p.Asn584Ile) c.1358A>T (p.Asn453Ile) c.1661A>T (p.Asn554Ile) c.1895A>T (p.Asn632Ile) c.1734+16728A>T (n.1734+16728A>T) | |
| 3 | g.32997328T>C | CA352000824 | GLB1 | c.1751A>G (p.Asn584Ser) c.1358A>G (p.Asn453Ser) c.1661A>G (p.Asn554Ser) c.1895A>G (p.Asn632Ser) c.1734+16728A>G (n.1734+16728A>G) | gnomAD v4 |
| 3 | g.32997328T>G | CA352000823 | GLB1 | c.1751A>C (p.Asn584Thr) c.1358A>C (p.Asn453Thr) c.1661A>C (p.Asn554Thr) c.1895A>C (p.Asn632Thr) c.1734+16728A>C (n.1734+16728A>C) | |
| 3 | g.32997329T>A | CA352000825 | GLB1 | c.1750A>T (p.Asn584Tyr) c.1357A>T (p.Asn453Tyr) c.1660A>T (p.Asn554Tyr) c.1894A>T (p.Asn632Tyr) c.1734+16727A>T (n.1734+16727A>T) | |
| 3 | g.32997329T>C | CA352000826 | GLB1 | c.1750A>G (p.Asn584Asp) c.1357A>G (p.Asn453Asp) c.1660A>G (p.Asn554Asp) c.1894A>G (p.Asn632Asp) c.1734+16727A>G (n.1734+16727A>G) | |
| 3 | g.32997329T>G | CA352000827 | GLB1 | c.1750A>C (p.Asn584His) c.1357A>C (p.Asn453His) c.1660A>C (p.Asn554His) c.1894A>C (p.Asn632His) c.1734+16727A>C (n.1734+16727A>C) | |
| 3 | g.32997330A= | CA1355976991 | GLB1 | c.1749T= (p.Ile583=) c.1356T= (p.Ile452=) c.1659T= (p.Ile553=) c.1893T= (p.Ile631=) c.1734+16726T= (n.1734+16726T=) | |
| 3 | g.32997330A>C | CA352000828 | GLB1 | c.1749T>G (p.Ile583Met) c.1356T>G (p.Ile452Met) c.1659T>G (p.Ile553Met) c.1893T>G (p.Ile631Met) c.1734+16726T>G (n.1734+16726T>G) | |
| 3 | g.32997330A>G | CA72667275 | GLB1 | c.1749T>C (p.Ile583=) c.1356T>C (p.Ile452=) c.1659T>C (p.Ile553=) c.1893T>C (p.Ile631=) c.1734+16726T>C (n.1734+16726T>C) | dbSNP gnomAD v4 |
| 3 | g.32997330A>T | CA432960446 | GLB1 | c.1749T>A (p.Ile583=) c.1356T>A (p.Ile452=) c.1659T>A (p.Ile553=) c.1893T>A (p.Ile631=) c.1734+16726T>A (n.1734+16726T>A) | |
| 3 | g.32997331A>C | CA352000829 | GLB1 | c.1748T>G (p.Ile583Ser) c.1355T>G (p.Ile452Ser) c.1658T>G (p.Ile553Ser) c.1892T>G (p.Ile631Ser) c.1734+16725T>G (n.1734+16725T>G) | |
| 3 | g.32997331A>G | CA352000830 | GLB1 | c.1748T>C (p.Ile583Thr) c.1355T>C (p.Ile452Thr) c.1658T>C (p.Ile553Thr) c.1892T>C (p.Ile631Thr) c.1734+16725T>C (n.1734+16725T>C) | gnomAD v4 |
| 3 | g.32997331A>T | CA352000831 | GLB1 | c.1748T>A (p.Ile583Asn) c.1355T>A (p.Ile452Asn) c.1658T>A (p.Ile553Asn) c.1892T>A (p.Ile631Asn) c.1734+16725T>A (n.1734+16725T>A) | |
| 3 | g.32997332T>A | CA352000832 | GLB1 | c.1747A>T (p.Ile583Phe) c.1354A>T (p.Ile452Phe) c.1657A>T (p.Ile553Phe) c.1891A>T (p.Ile631Phe) c.1734+16724A>T (n.1734+16724A>T) | |
| 3 | g.32997332T>C | CA352000833 | GLB1 | c.1747A>G (p.Ile583Val) c.1354A>G (p.Ile452Val) c.1657A>G (p.Ile553Val) c.1891A>G (p.Ile631Val) c.1734+16724A>G (n.1734+16724A>G) | gnomAD v4 |
| 3 | g.32997332T>G | CA352000834 | GLB1 | c.1747A>C (p.Ile583Leu) c.1354A>C (p.Ile452Leu) c.1657A>C (p.Ile553Leu) c.1891A>C (p.Ile631Leu) c.1734+16724A>C (n.1734+16724A>C) | |
| 3 | g.32997333C>A | CA352000835 | GLB1 | c.1746G>T (p.Trp582Cys) c.1353G>T (p.Trp451Cys) c.1656G>T (p.Trp552Cys) c.1890G>T (p.Trp630Cys) c.1734+16723G>T (n.1734+16723G>T) | gnomAD v4 |
| 3 | g.32997333C= | CA1355976992 | GLB1 | c.1746G= (p.Trp582=) c.1353G= (p.Trp451=) c.1656G= (p.Trp552=) c.1890G= (p.Trp630=) c.1734+16723G= (n.1734+16723G=) | |
| 3 | g.32997333C>G | CA352000836 | GLB1 | c.1746G>C (p.Trp582Cys) c.1353G>C (p.Trp451Cys) c.1656G>C (p.Trp552Cys) c.1890G>C (p.Trp630Cys) c.1734+16723G>C (n.1734+16723G>C) | |
| 3 | g.32997333C>T | CA2299300 | GLB1 | c.1746G>A (p.Trp582Ter) c.1353G>A (p.Trp451Ter) c.1656G>A (p.Trp552Ter) c.1890G>A (p.Trp630Ter) c.1734+16723G>A (n.1734+16723G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997334C>A | CA352000837 | GLB1 | c.1745G>T (p.Trp582Leu) c.1352G>T (p.Trp451Leu) c.1655G>T (p.Trp552Leu) c.1889G>T (p.Trp630Leu) c.1734+16722G>T (n.1734+16722G>T) | COSMIC COSMIC |
| 3 | g.32997334C>G | CA352000839 | GLB1 | c.1745G>C (p.Trp582Ser) c.1352G>C (p.Trp451Ser) c.1655G>C (p.Trp552Ser) c.1889G>C (p.Trp630Ser) c.1734+16722G>C (n.1734+16722G>C) | |
| 3 | g.32997334C>T | CA352000838 | GLB1 | c.1745G>A (p.Trp582Ter) c.1352G>A (p.Trp451Ter) c.1655G>A (p.Trp552Ter) c.1889G>A (p.Trp630Ter) c.1734+16722G>A (n.1734+16722G>A) | |
| 3 | g.32997335A>C | CA352000840 | GLB1 | c.1744T>G (p.Trp582Gly) c.1351T>G (p.Trp451Gly) c.1654T>G (p.Trp552Gly) c.1888T>G (p.Trp630Gly) c.1734+16721T>G (n.1734+16721T>G) | |
| 3 | g.32997335A>G | CA352000841 | GLB1 | c.1744T>C (p.Trp582Arg) c.1351T>C (p.Trp451Arg) c.1654T>C (p.Trp552Arg) c.1888T>C (p.Trp630Arg) c.1734+16721T>C (n.1734+16721T>C) | |
| 3 | g.32997335A>T | CA352000842 | GLB1 | c.1744T>A (p.Trp582Arg) c.1351T>A (p.Trp451Arg) c.1654T>A (p.Trp552Arg) c.1888T>A (p.Trp630Arg) c.1734+16721T>A (n.1734+16721T>A) | |
| 3 | g.32997336G>A | CA432960448 | GLB1 | c.1743C>T (p.Val581=) c.1350C>T (p.Val450=) c.1653C>T (p.Val551=) c.1887C>T (p.Val629=) c.1734+16720C>T (n.1734+16720C>T) | |
| 3 | g.32997336G>C | CA432960449 | GLB1 | c.1743C>G (p.Val581=) c.1350C>G (p.Val450=) c.1653C>G (p.Val551=) c.1887C>G (p.Val629=) c.1734+16720C>G (n.1734+16720C>G) | |
| 3 | g.32997336G= | CA1355976993 | GLB1 | c.1743C= (p.Val581=) c.1350C= (p.Val450=) c.1653C= (p.Val551=) c.1887C= (p.Val629=) c.1734+16720C= (n.1734+16720C=) | |
| 3 | g.32997336G>T | CA432960450 | GLB1 | c.1743C>A (p.Val581=) c.1350C>A (p.Val450=) c.1653C>A (p.Val551=) c.1887C>A (p.Val629=) c.1734+16720C>A (n.1734+16720C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.32997337A>C | CA352000843 | GLB1 | c.1742T>G (p.Val581Gly) c.1349T>G (p.Val450Gly) c.1652T>G (p.Val551Gly) c.1886T>G (p.Val629Gly) c.1734+16719T>G (n.1734+16719T>G) | ClinVar |
| 3 | g.32997337A>G | CA352000844 | GLB1 | c.1742T>C (p.Val581Ala) c.1349T>C (p.Val450Ala) c.1652T>C (p.Val551Ala) c.1886T>C (p.Val629Ala) c.1734+16719T>C (n.1734+16719T>C) | |
| 3 | g.32997337A>T | CA352000845 | GLB1 | c.1742T>A (p.Val581Asp) c.1349T>A (p.Val450Asp) c.1652T>A (p.Val551Asp) c.1886T>A (p.Val629Asp) c.1734+16719T>A (n.1734+16719T>A) | |
| 3 | g.32997338C>A | CA352000846 | GLB1 | c.1741G>T (p.Val581Phe) c.1348G>T (p.Val450Phe) c.1651G>T (p.Val551Phe) c.1885G>T (p.Val629Phe) c.1734+16718G>T (n.1734+16718G>T) | |
| 3 | g.32997338C>G | CA352000847 | GLB1 | c.1741G>C (p.Val581Leu) c.1348G>C (p.Val450Leu) c.1651G>C (p.Val551Leu) c.1885G>C (p.Val629Leu) c.1734+16718G>C (n.1734+16718G>C) | |
| 3 | g.32997338C>T | CA352000848 | GLB1 | c.1741G>A (p.Val581Ile) c.1348G>A (p.Val450Ile) c.1651G>A (p.Val551Ile) c.1885G>A (p.Val629Ile) c.1734+16718G>A (n.1734+16718G>A) | |
| 3 | g.32997339C>A | CA352000849 | GLB1 | c.1740G>T (p.Gln580His) c.1347G>T (p.Gln449His) c.1650G>T (p.Gln550His) c.1884G>T (p.Gln628His) c.1734+16717G>T (n.1734+16717G>T) | gnomAD v4 |
| 3 | g.32997339C>G | CA352000850 | GLB1 | c.1740G>C (p.Gln580His) c.1347G>C (p.Gln449His) c.1650G>C (p.Gln550His) c.1884G>C (p.Gln628His) c.1734+16717G>C (n.1734+16717G>C) | |
| 3 | g.32997339C>T | CA432960451 | GLB1 | c.1740G>A (p.Gln580=) c.1347G>A (p.Gln449=) c.1650G>A (p.Gln550=) c.1884G>A (p.Gln628=) c.1734+16717G>A (n.1734+16717G>A) | |
| 3 | g.32997340T>A | CA352000852 | GLB1 | c.1739A>T (p.Gln580Leu) c.1346A>T (p.Gln449Leu) c.1649A>T (p.Gln550Leu) c.1883A>T (p.Gln628Leu) c.1734+16716A>T (n.1734+16716A>T) | |
| 3 | g.32997340T>C | CA352000853 | GLB1 | c.1739A>G (p.Gln580Arg) c.1346A>G (p.Gln449Arg) c.1649A>G (p.Gln550Arg) c.1883A>G (p.Gln628Arg) c.1734+16716A>G (n.1734+16716A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.32997340T>G | CA352000851 | GLB1 | c.1739A>C (p.Gln580Pro) c.1346A>C (p.Gln449Pro) c.1649A>C (p.Gln550Pro) c.1883A>C (p.Gln628Pro) c.1734+16716A>C (n.1734+16716A>C) | |
| 3 | g.32997341G>A | CA352000855 | GLB1 | c.1738C>T (p.Gln580Ter) c.1345C>T (p.Gln449Ter) c.1648C>T (p.Gln550Ter) c.1882C>T (p.Gln628Ter) c.1734+16715C>T (n.1734+16715C>T) | |
| 3 | g.32997341G>C | CA352000854 | GLB1 | c.1738C>G (p.Gln580Glu) c.1345C>G (p.Gln449Glu) c.1648C>G (p.Gln550Glu) c.1882C>G (p.Gln628Glu) c.1734+16715C>G (n.1734+16715C>G) | gnomAD v4 |
| 3 | g.32997341G>T | CA352000856 | GLB1 | c.1738C>A (p.Gln580Lys) c.1345C>A (p.Gln449Lys) c.1648C>A (p.Gln550Lys) c.1882C>A (p.Gln628Lys) c.1734+16715C>A (n.1734+16715C>A) | |
| 3 | g.32997342G>A | CA432960452 | GLB1 | c.1737C>T (p.Gly579=) c.1344C>T (p.Gly448=) c.1647C>T (p.Gly549=) c.1881C>T (p.Gly627=) c.1734+16714C>T (n.1734+16714C>T) | gnomAD v4 |
| 3 | g.32997342G>C | CA432960453 | GLB1 | c.1737C>G (p.Gly579=) c.1344C>G (p.Gly448=) c.1647C>G (p.Gly549=) c.1881C>G (p.Gly627=) c.1734+16714C>G (n.1734+16714C>G) | |
| 3 | g.32997342G>T | CA432960454 | GLB1 | c.1737C>A (p.Gly579=) c.1344C>A (p.Gly448=) c.1647C>A (p.Gly549=) c.1881C>A (p.Gly627=) c.1734+16714C>A (n.1734+16714C>A) | |
| 3 | g.32997343C>A | CA352000857 | GLB1 | c.1736G>T (p.Gly579Val) c.1343G>T (p.Gly448Val) c.1646G>T (p.Gly549Val) c.1880G>T (p.Gly627Val) c.1734+16713G>T (n.1734+16713G>T) | |
| 3 | g.32997343C= | CA1355976994 | GLB1 | c.1736G= (p.Gly579=) c.1343G= (p.Gly448=) c.1646G= (p.Gly549=) c.1880G= (p.Gly627=) c.1734+16713G= (n.1734+16713G=) | |
| 3 | g.32997343C>G | CA352000858 | GLB1 | c.1736G>C (p.Gly579Ala) c.1343G>C (p.Gly448Ala) c.1646G>C (p.Gly549Ala) c.1880G>C (p.Gly627Ala) c.1734+16713G>C (n.1734+16713G>C) | |
| 3 | g.32997343C>T | CA2299301 | GLB1 | c.1736G>A (p.Gly579Asp) c.1343G>A (p.Gly448Asp) c.1646G>A (p.Gly549Asp) c.1880G>A (p.Gly627Asp) c.1734+16713G>A (n.1734+16713G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.32997344C>A | CA352000859 | GLB1 | c.1735G>T (p.Gly579Cys) c.1342G>T (p.Gly448Cys) c.1645G>T (p.Gly549Cys) c.1879G>T (p.Gly627Cys) c.1734+16712G>T (n.1734+16712G>T) | |
| 3 | g.32997344C>G | CA352000860 | GLB1 | c.1735G>C (p.Gly579Arg) c.1342G>C (p.Gly448Arg) c.1645G>C (p.Gly549Arg) c.1879G>C (p.Gly627Arg) c.1734+16712G>C (n.1734+16712G>C) | |
| 3 | g.32997344C>T | CA352000861 | GLB1 | c.1735G>A (p.Gly579Ser) c.1342G>A (p.Gly448Ser) c.1645G>A (p.Gly549Ser) c.1879G>A (p.Gly627Ser) c.1734+16712G>A (n.1734+16712G>A) | |
| 3 | g.32997345C>A | CA352000862 | GLB1 | c.1735-1G>T (n.1735-1G>T) c.1342-1G>T (n.1342-1G>T) c.1645-1G>T (n.1645-1G>T) c.1879-1G>T (n.1879-1G>T) c.1734+16711G>T (n.1734+16711G>T) | |
| 3 | g.32997345C>G | CA352000863 | GLB1 | c.1735-1G>C (n.1735-1G>C) c.1342-1G>C (n.1342-1G>C) c.1645-1G>C (n.1645-1G>C) c.1879-1G>C (n.1879-1G>C) c.1734+16711G>C (n.1734+16711G>C) | |
| 3 | g.32997345C>T | CA352000864 | GLB1 | c.1735-1G>A (n.1735-1G>A) c.1342-1G>A (n.1342-1G>A) c.1645-1G>A (n.1645-1G>A) c.1879-1G>A (n.1879-1G>A) c.1734+16711G>A (n.1734+16711G>A) | |
| 3 | g.32997346_32997347insTGGTCCATCCAGGAAACT | CA2702373530 | GLB1 | c.1735-1_1735insTTTCCTGGATGGACCAAG (n.1735-1_1735insTTTCCTGGATGGACCAAG) c.1342-1_1342insTTTCCTGGATGGACCAAG (n.1342-1_1342insTTTCCTGGATGGACCAAG) c.1645-1_1645insTTTCCTGGATGGACCAAG (n.1645-1_1645insTTTCCTGGATGGACCAAG) c.1879-1_1879insTTTCCTGGATGGACCAAG (n.1879-1_1879insTTTCCTGGATGGACCAAG) c.1734+16711_1734+16712insTTTCCTGGATGGACCAAG (n.1734+16711_1734+16712insTTTCCTGGATGGACCAAG) | dbSNP |
| 3 | g.32997346T>A | CA352000865 | GLB1 | c.1735-2A>T (n.1735-2A>T) c.1342-2A>T (n.1342-2A>T) c.1645-2A>T (n.1645-2A>T) c.1879-2A>T (n.1879-2A>T) c.1734+16710A>T (n.1734+16710A>T) | |
| 3 | g.32997346T>C | CA352000866 | GLB1 | c.1735-2A>G (n.1735-2A>G) c.1342-2A>G (n.1342-2A>G) c.1645-2A>G (n.1645-2A>G) c.1879-2A>G (n.1879-2A>G) c.1734+16710A>G (n.1734+16710A>G) | |
| 3 | g.32997346T>G | CA352000867 | GLB1 | c.1735-2A>C (n.1735-2A>C) c.1342-2A>C (n.1342-2A>C) c.1645-2A>C (n.1645-2A>C) c.1879-2A>C (n.1879-2A>C) c.1734+16710A>C (n.1734+16710A>C) | |
| 3 | g.32997347G>A | CA542181215 | GLB1 | c.1735-3C>T (n.1735-3C>T) c.1342-3C>T (n.1342-3C>T) c.1645-3C>T (n.1645-3C>T) c.1879-3C>T (n.1879-3C>T) c.1734+16709C>T (n.1734+16709C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.32997347G= | CA913189087 | GLB1 | c.1735-3C= (n.1735-3C=) c.1342-3C= (n.1342-3C=) c.1645-3C= (n.1645-3C=) c.1879-3C= (n.1879-3C=) c.1734+16709C= (n.1734+16709C=) | |
| 3 | g.32997347_32997351delinsGGAGA | CA1355976995 | GLB1 | c.1735-7_1735-3delinsTCTCC (n.1735-7_1735-3delinsTCTCC) c.1342-7_1342-3delinsTCTCC (n.1342-7_1342-3delinsTCTCC) c.1645-7_1645-3delinsTCTCC (n.1645-7_1645-3delinsTCTCC) c.1879-7_1879-3delinsTCTCC (n.1879-7_1879-3delinsTCTCC) c.1734+16705_1734+16709delinsTCTCC (n.1734+16705_1734+16709delinsTCTCC) | |
| 3 | g.32997348G>C | CA1355976996 | GLB1 | c.1735-4C>G (n.1735-4C>G) c.1342-4C>G (n.1342-4C>G) c.1645-4C>G (n.1645-4C>G) c.1879-4C>G (n.1879-4C>G) c.1734+16708C>G (n.1734+16708C>G) | ClinVar dbSNP |
| 3 | g.32997348G= | CA1355976997 | GLB1 | c.1735-4C= (n.1735-4C=) c.1342-4C= (n.1342-4C=) c.1645-4C= (n.1645-4C=) c.1879-4C= (n.1879-4C=) c.1734+16708C= (n.1734+16708C=) | |
| 3 | g.32997358_32997359dup | CA2299303 | GLB1 | c.1735-5_1735-4dup (n.1735-5_1735-4dup) c.1342-5_1342-4dup (n.1342-5_1342-4dup) c.1645-5_1645-4dup (n.1645-5_1645-4dup) c.1879-5_1879-4dup (n.1879-5_1879-4dup) c.1734+16707_1734+16708dup (n.1734+16707_1734+16708dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997358_32997359del | CA2299302 | GLB1 | c.1735-5_1735-4del (n.1735-5_1735-4del) c.1342-5_1342-4del (n.1342-5_1342-4del) c.1645-5_1645-4del (n.1645-5_1645-4del) c.1879-5_1879-4del (n.1879-5_1879-4del) c.1734+16707_1734+16708del (n.1734+16707_1734+16708del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997356_32997359del | CA2299304 | GLB1 | c.1735-7_1735-4del (n.1735-7_1735-4del) c.1342-7_1342-4del (n.1342-7_1342-4del) c.1645-7_1645-4del (n.1645-7_1645-4del) c.1879-7_1879-4del (n.1879-7_1879-4del) c.1734+16705_1734+16708del (n.1734+16705_1734+16708del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.32997350G>A | CA2664926662 | GLB1 | c.1735-6C>T (n.1735-6C>T) c.1342-6C>T (n.1342-6C>T) c.1645-6C>T (n.1645-6C>T) c.1879-6C>T (n.1879-6C>T) c.1734+16706C>T (n.1734+16706C>T) | gnomAD v4 |
| 3 | g.32997350G>T | CA2702373531 | GLB1 | c.1735-6C>A (n.1735-6C>A) c.1342-6C>A (n.1342-6C>A) c.1645-6C>A (n.1645-6C>A) c.1879-6C>A (n.1879-6C>A) c.1734+16706C>A (n.1734+16706C>A) | dbSNP |
| 3 | g.32997352G>A | CA2499216659 | GLB1 | c.1735-8C>T (n.1735-8C>T) c.1342-8C>T (n.1342-8C>T) c.1645-8C>T (n.1645-8C>T) c.1879-8C>T (n.1879-8C>T) c.1734+16704C>T (n.1734+16704C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.32997352G>C | CA2299305 | GLB1 | c.1735-8C>G (n.1735-8C>G) c.1342-8C>G (n.1342-8C>G) c.1645-8C>G (n.1645-8C>G) c.1879-8C>G (n.1879-8C>G) c.1734+16704C>G (n.1734+16704C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.32997352G= | CA1355976998 | GLB1 | c.1735-8C= (n.1735-8C=) c.1342-8C= (n.1342-8C=) c.1645-8C= (n.1645-8C=) c.1879-8C= (n.1879-8C=) c.1734+16704C= (n.1734+16704C=) | |
| 3 | g.32997358_32997365dup | CA1355976999 | GLB1 | c.1735-16_1735-9dup (n.1735-16_1735-9dup) c.1342-16_1342-9dup (n.1342-16_1342-9dup) c.1645-16_1645-9dup (n.1645-16_1645-9dup) c.1879-16_1879-9dup (n.1879-16_1879-9dup) c.1734+16696_1734+16703dup (n.1734+16696_1734+16703dup) | ClinVar dbSNP gnomAD v4 |
| 3 | g.32997354G>A | CA2299307 | GLB1 | c.1735-10C>T (n.1735-10C>T) c.1342-10C>T (n.1342-10C>T) c.1645-10C>T (n.1645-10C>T) c.1879-10C>T (n.1879-10C>T) c.1734+16702C>T (n.1734+16702C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997354G>C | CA2299306 | GLB1 | c.1735-10C>G (n.1735-10C>G) c.1342-10C>G (n.1342-10C>G) c.1645-10C>G (n.1645-10C>G) c.1879-10C>G (n.1879-10C>G) c.1734+16702C>G (n.1734+16702C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997354G= | CA1355977000 | GLB1 | c.1735-10C= (n.1735-10C=) c.1342-10C= (n.1342-10C=) c.1645-10C= (n.1645-10C=) c.1879-10C= (n.1879-10C=) c.1734+16702C= (n.1734+16702C=) | |
| 3 | g.32997356G>C | CA2299308 | GLB1 | c.1735-12C>G (n.1735-12C>G) c.1342-12C>G (n.1342-12C>G) c.1645-12C>G (n.1645-12C>G) c.1879-12C>G (n.1879-12C>G) c.1734+16700C>G (n.1734+16700C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997356G= | CA1355977001 | GLB1 | c.1735-12C= (n.1735-12C=) c.1342-12C= (n.1342-12C=) c.1645-12C= (n.1645-12C=) c.1879-12C= (n.1879-12C=) c.1734+16700C= (n.1734+16700C=) | |
| 3 | g.32997359A>G | CA2577539495 | GLB1 | c.1735-15T>C (n.1735-15T>C) c.1342-15T>C (n.1342-15T>C) c.1645-15T>C (n.1645-15T>C) c.1879-15T>C (n.1879-15T>C) c.1734+16697T>C (n.1734+16697T>C) | |
| 3 | g.32997360C= | CA1355977002 | GLB1 | c.1735-16G= (n.1735-16G=) c.1342-16G= (n.1342-16G=) c.1645-16G= (n.1645-16G=) c.1879-16G= (n.1879-16G=) c.1734+16696G= (n.1734+16696G=) | |
| 3 | g.32997360C>G | CA2573136208 | GLB1 | c.1735-16G>C (n.1735-16G>C) c.1342-16G>C (n.1342-16G>C) c.1645-16G>C (n.1645-16G>C) c.1879-16G>C (n.1879-16G>C) c.1734+16696G>C (n.1734+16696G>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.32997360C>T | CA1046601067 | GLB1 | c.1735-16G>A (n.1735-16G>A) c.1342-16G>A (n.1342-16G>A) c.1645-16G>A (n.1645-16G>A) c.1879-16G>A (n.1879-16G>A) c.1734+16696G>A (n.1734+16696G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.32997361A>G | CA2577539496 | GLB1 | c.1735-17T>C (n.1735-17T>C) c.1342-17T>C (n.1342-17T>C) c.1645-17T>C (n.1645-17T>C) c.1879-17T>C (n.1879-17T>C) c.1734+16695T>C (n.1734+16695T>C) | |
| 3 | g.32997364_32997365del | CA2595212657 | GLB1 | c.1735-18_1735-17del (n.1735-18_1735-17del) c.1342-18_1342-17del (n.1342-18_1342-17del) c.1645-18_1645-17del (n.1645-18_1645-17del) c.1879-18_1879-17del (n.1879-18_1879-17del) c.1734+16694_1734+16695del (n.1734+16694_1734+16695del) | gnomAD v3 gnomAD v4 |
| 3 | g.32997364G>A | CA2664926663 | GLB1 | c.1735-20C>T (n.1735-20C>T) c.1342-20C>T (n.1342-20C>T) c.1645-20C>T (n.1645-20C>T) c.1879-20C>T (n.1879-20C>T) c.1734+16692C>T (n.1734+16692C>T) | gnomAD v4 |
| 3 | g.32997365A>G | CA2664926664 | GLB1 | c.1735-21T>C (n.1735-21T>C) c.1342-21T>C (n.1342-21T>C) c.1645-21T>C (n.1645-21T>C) c.1879-21T>C (n.1879-21T>C) c.1734+16691T>C (n.1734+16691T>C) | gnomAD v4 |