| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.34399974G>A | CA123317 | GPI | c.1615G>A (p.Asp539Asn) c.1732G>A (p.Asp578Asn) c.1281G>A c.1648G>A (p.Asp550Asn) n.2660G>A c.*666G>A (n.*666G>A) n.2692G>A n.1353G>A c.*47G>A (n.*47G>A) c.1660G>A (p.Asp554Asn) c.193+3317G>A c.1531G>A (p.Asp511Asn) c.1588G>A (p.Asp530Asn) | ClinVar dbSNP gnomAD v4 |
| 19 | g.34399974G>C | CA405246727 | GPI | c.1615G>C (p.Asp539His) c.1732G>C (p.Asp578His) c.1281G>C c.1648G>C (p.Asp550His) n.2660G>C c.*666G>C (n.*666G>C) n.2692G>C n.1353G>C c.*47G>C (n.*47G>C) c.1660G>C (p.Asp554His) c.193+3317G>C c.1531G>C (p.Asp511His) c.1588G>C (p.Asp530His) | |
| 19 | g.34399974G= | CA2333177912 | GPI | c.1615G= (p.Asp539=) c.1732G= (p.Asp578=) c.1281G= c.1648G= (p.Asp550=) n.2660G= c.*666G= (n.*666G=) n.2692G= n.1353G= c.*47G= (n.*47G=) c.1660G= (p.Asp554=) c.193+3317G= c.1531G= (p.Asp511=) c.1588G= (p.Asp530=) | |
| 19 | g.34399974G>T | CA405246728 | GPI | c.1615G>T (p.Asp539Tyr) c.1732G>T (p.Asp578Tyr) c.1281G>T c.1648G>T (p.Asp550Tyr) n.2660G>T c.*666G>T (n.*666G>T) n.2692G>T n.1353G>T c.*47G>T (n.*47G>T) c.1660G>T (p.Asp554Tyr) c.193+3317G>T c.1531G>T (p.Asp511Tyr) c.1588G>T (p.Asp530Tyr) | |
| 19 | g.34399975A>C | CA405246729 | GPI | c.1616A>C (p.Asp539Ala) c.1733A>C (p.Asp578Ala) c.1282A>C c.1649A>C (p.Asp550Ala) n.2661A>C c.*667A>C (n.*667A>C) n.2693A>C n.1354A>C c.*48A>C (n.*48A>C) c.1661A>C (p.Asp554Ala) c.193+3318A>C c.1532A>C (p.Asp511Ala) c.1589A>C (p.Asp530Ala) | |
| 19 | g.34399975A>G | CA405246730 | GPI | c.1616A>G (p.Asp539Gly) c.1733A>G (p.Asp578Gly) c.1282A>G c.1649A>G (p.Asp550Gly) n.2661A>G c.*667A>G (n.*667A>G) n.2693A>G n.1354A>G c.*48A>G (n.*48A>G) c.1661A>G (p.Asp554Gly) c.193+3318A>G c.1532A>G (p.Asp511Gly) c.1589A>G (p.Asp530Gly) | |
| 19 | g.34399975A>T | CA405246731 | GPI | c.1616A>T (p.Asp539Val) c.1733A>T (p.Asp578Val) c.1282A>T c.1649A>T (p.Asp550Val) n.2661A>T c.*667A>T (n.*667A>T) n.2693A>T n.1354A>T c.*48A>T (n.*48A>T) c.1661A>T (p.Asp554Val) c.193+3318A>T c.1532A>T (p.Asp511Val) c.1589A>T (p.Asp530Val) | |
| 19 | g.34399976C>A | CA405246732 | GPI | c.1617C>A (p.Asp539Glu) c.1734C>A (p.Asp578Glu) c.1283C>A c.1650C>A (p.Asp550Glu) n.2662C>A c.*668C>A (n.*668C>A) n.2694C>A n.1355C>A c.*49C>A (n.*49C>A) c.1662C>A (p.Asp554Glu) c.193+3319C>A c.1533C>A (p.Asp511Glu) c.1590C>A (p.Asp530Glu) | |
| 19 | g.34399976C= | CA2333177913 | GPI | c.1617C= (p.Asp539=) c.1734C= (p.Asp578=) c.1283C= c.1650C= (p.Asp550=) n.2662C= c.*668C= (n.*668C=) n.2694C= n.1355C= c.*49C= (n.*49C=) c.1662C= (p.Asp554=) c.193+3319C= c.1533C= (p.Asp511=) c.1590C= (p.Asp530=) | |
| 19 | g.34399976C>G | CA405246733 | GPI | c.1617C>G (p.Asp539Glu) c.1734C>G (p.Asp578Glu) c.1283C>G c.1650C>G (p.Asp550Glu) n.2662C>G c.*668C>G (n.*668C>G) n.2694C>G n.1355C>G c.*49C>G (n.*49C>G) c.1662C>G (p.Asp554Glu) c.193+3319C>G c.1533C>G (p.Asp511Glu) c.1590C>G (p.Asp530Glu) | |
| 19 | g.34399976C>T | CA9367494 | GPI | c.1617C>T (p.Asp539=) c.1734C>T (p.Asp578=) c.1283C>T c.1650C>T (p.Asp550=) n.2662C>T c.*668C>T (n.*668C>T) n.2694C>T n.1355C>T c.*49C>T (n.*49C>T) c.1662C>T (p.Asp554=) c.193+3319C>T c.1533C>T (p.Asp511=) c.1590C>T (p.Asp530=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.34399977G>A | CA307634834 | GPI | c.1618G>A (p.Ala540Thr) c.1735G>A (p.Ala579Thr) c.1284G>A c.1651G>A (p.Ala551Thr) n.2663G>A c.*669G>A (n.*669G>A) n.2695G>A n.1356G>A c.*50G>A (n.*50G>A) c.1663G>A (p.Ala555Thr) c.193+3320G>A c.1534G>A (p.Ala512Thr) c.1591G>A (p.Ala531Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.34399977G>C | CA307634836 | GPI | c.1618G>C (p.Ala540Pro) c.1735G>C (p.Ala579Pro) c.1284G>C c.1651G>C (p.Ala551Pro) n.2663G>C c.*669G>C (n.*669G>C) n.2695G>C n.1356G>C c.*50G>C (n.*50G>C) c.1663G>C (p.Ala555Pro) c.193+3320G>C c.1534G>C (p.Ala512Pro) c.1591G>C (p.Ala531Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.34399977G= | CA2333177914 | GPI | c.1618G= (p.Ala540=) c.1735G= (p.Ala579=) c.1284G= c.1651G= (p.Ala551=) n.2663G= c.*669G= (n.*669G=) n.2695G= n.1356G= c.*50G= (n.*50G=) c.1663G= (p.Ala555=) c.193+3320G= c.1534G= (p.Ala512=) c.1591G= (p.Ala531=) | |
| 19 | g.34399977G>T | CA405246734 | GPI | c.1618G>T (p.Ala540Ser) c.1735G>T (p.Ala579Ser) c.1284G>T c.1651G>T (p.Ala551Ser) n.2663G>T c.*669G>T (n.*669G>T) n.2695G>T n.1356G>T c.*50G>T (n.*50G>T) c.1663G>T (p.Ala555Ser) c.193+3320G>T c.1534G>T (p.Ala512Ser) c.1591G>T (p.Ala531Ser) | |
| 19 | g.34399978C>A | CA405246737 | GPI | c.1619C>A (p.Ala540Asp) c.1736C>A (p.Ala579Asp) c.1285C>A c.1652C>A (p.Ala551Asp) n.2664C>A c.*670C>A (n.*670C>A) n.2696C>A n.1357C>A c.*51C>A (n.*51C>A) c.1664C>A (p.Ala555Asp) c.193+3321C>A c.1535C>A (p.Ala512Asp) c.1592C>A (p.Ala531Asp) | |
| 19 | g.34399978C>G | CA405246736 | GPI | c.1619C>G (p.Ala540Gly) c.1736C>G (p.Ala579Gly) c.1285C>G c.1652C>G (p.Ala551Gly) n.2664C>G c.*670C>G (n.*670C>G) n.2696C>G n.1357C>G c.*51C>G (n.*51C>G) c.1664C>G (p.Ala555Gly) c.193+3321C>G c.1535C>G (p.Ala512Gly) c.1592C>G (p.Ala531Gly) | |
| 19 | g.34399978C>T | CA405246735 | GPI | c.1619C>T (p.Ala540Val) c.1736C>T (p.Ala579Val) c.1285C>T c.1652C>T (p.Ala551Val) n.2664C>T c.*670C>T (n.*670C>T) n.2696C>T n.1357C>T c.*51C>T (n.*51C>T) c.1664C>T (p.Ala555Val) c.193+3321C>T c.1535C>T (p.Ala512Val) c.1592C>T (p.Ala531Val) | gnomAD v4 |
| 19 | g.34399979T>A | CA9367495 | GPI | c.1620T>A (p.Ala540=) c.1737T>A (p.Ala579=) c.1286T>A c.1653T>A (p.Ala551=) n.2665T>A c.*671T>A (n.*671T>A) n.2697T>A n.1358T>A c.*52T>A (n.*52T>A) c.1665T>A (p.Ala555=) c.193+3322T>A c.1536T>A (p.Ala512=) c.1593T>A (p.Ala531=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.34399979T>C | CA506999799 | GPI | c.1620T>C (p.Ala540=) c.1737T>C (p.Ala579=) c.1286T>C c.1653T>C (p.Ala551=) n.2665T>C c.*671T>C (n.*671T>C) n.2697T>C n.1358T>C c.*52T>C (n.*52T>C) c.1665T>C (p.Ala555=) c.193+3322T>C c.1536T>C (p.Ala512=) c.1593T>C (p.Ala531=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.34399979T>G | CA506999800 | GPI | c.1620T>G (p.Ala540=) c.1737T>G (p.Ala579=) c.1286T>G c.1653T>G (p.Ala551=) n.2665T>G c.*671T>G (n.*671T>G) n.2697T>G n.1358T>G c.*52T>G (n.*52T>G) c.1665T>G (p.Ala555=) c.193+3322T>G c.1536T>G (p.Ala512=) c.1593T>G (p.Ala531=) | |
| 19 | g.34399979T= | CA2333177915 | GPI | c.1620T= (p.Ala540=) c.1737T= (p.Ala579=) c.1286T= c.1653T= (p.Ala551=) n.2665T= c.*671T= (n.*671T=) n.2697T= n.1358T= c.*52T= (n.*52T=) c.1665T= (p.Ala555=) c.193+3322T= c.1536T= (p.Ala512=) c.1593T= (p.Ala531=) | |
| 19 | g.34399980T>A | CA405246739 | GPI | c.1621T>A (p.Ser541Thr) c.1738T>A (p.Ser580Thr) c.1287T>A c.1654T>A (p.Ser552Thr) n.2666T>A c.*672T>A (n.*672T>A) n.2698T>A n.1359T>A c.*53T>A (n.*53T>A) c.1666T>A (p.Ser556Thr) c.193+3323T>A c.1537T>A (p.Ser513Thr) c.1594T>A (p.Ser532Thr) | |
| 19 | g.34399980T>C | CA405246738 | GPI | c.1621T>C (p.Ser541Pro) c.1738T>C (p.Ser580Pro) c.1287T>C c.1654T>C (p.Ser552Pro) n.2666T>C c.*672T>C (n.*672T>C) n.2698T>C n.1359T>C c.*53T>C (n.*53T>C) c.1666T>C (p.Ser556Pro) c.193+3323T>C c.1537T>C (p.Ser513Pro) c.1594T>C (p.Ser532Pro) | |
| 19 | g.34399980T>G | CA405246740 | GPI | c.1621T>G (p.Ser541Ala) c.1738T>G (p.Ser580Ala) c.1287T>G c.1654T>G (p.Ser552Ala) n.2666T>G c.*672T>G (n.*672T>G) n.2698T>G n.1359T>G c.*53T>G (n.*53T>G) c.1666T>G (p.Ser556Ala) c.193+3323T>G c.1537T>G (p.Ser513Ala) c.1594T>G (p.Ser532Ala) | |
| 19 | g.34399981C>A | CA405246741 | GPI | c.1622C>A (p.Ser541Tyr) c.1739C>A (p.Ser580Tyr) c.1288C>A c.1655C>A (p.Ser552Tyr) n.2667C>A c.*673C>A (n.*673C>A) n.2699C>A n.1360C>A c.*54C>A (n.*54C>A) c.1667C>A (p.Ser556Tyr) c.193+3324C>A c.1538C>A (p.Ser513Tyr) c.1595C>A (p.Ser532Tyr) | |
| 19 | g.34399981C= | CA2333177916 | GPI | c.1622C= (p.Ser541=) c.1739C= (p.Ser580=) c.1288C= c.1655C= (p.Ser552=) n.2667C= c.*673C= (n.*673C=) n.2699C= n.1360C= c.*54C= (n.*54C=) c.1667C= (p.Ser556=) c.193+3324C= c.1538C= (p.Ser513=) c.1595C= (p.Ser532=) | |
| 19 | g.34399981C>G | CA405246743 | GPI | c.1622C>G (p.Ser541Cys) c.1739C>G (p.Ser580Cys) c.1288C>G c.1655C>G (p.Ser552Cys) n.2667C>G c.*673C>G (n.*673C>G) n.2699C>G n.1360C>G c.*54C>G (n.*54C>G) c.1667C>G (p.Ser556Cys) c.193+3324C>G c.1538C>G (p.Ser513Cys) c.1595C>G (p.Ser532Cys) | |
| 19 | g.34399981C>T | CA405246742 | GPI | c.1622C>T (p.Ser541Phe) c.1739C>T (p.Ser580Phe) c.1288C>T c.1655C>T (p.Ser552Phe) n.2667C>T c.*673C>T (n.*673C>T) n.2699C>T n.1360C>T c.*54C>T (n.*54C>T) c.1667C>T (p.Ser556Phe) c.193+3324C>T c.1538C>T (p.Ser513Phe) c.1595C>T (p.Ser532Phe) | dbSNP gnomAD v2 |
| 19 | g.34399982T>A | CA506999802 | GPI | c.1623T>A (p.Ser541=) c.1740T>A (p.Ser580=) c.1289T>A c.1656T>A (p.Ser552=) n.2668T>A c.*674T>A (n.*674T>A) n.2700T>A n.1361T>A c.*55T>A (n.*55T>A) c.1668T>A (p.Ser556=) c.193+3325T>A c.1539T>A (p.Ser513=) c.1596T>A (p.Ser532=) | |
| 19 | g.34399982T>C | CA506999803 | GPI | c.1623T>C (p.Ser541=) c.1740T>C (p.Ser580=) c.1289T>C c.1656T>C (p.Ser552=) n.2668T>C c.*674T>C (n.*674T>C) n.2700T>C n.1361T>C c.*55T>C (n.*55T>C) c.1668T>C (p.Ser556=) c.193+3325T>C c.1539T>C (p.Ser513=) c.1596T>C (p.Ser532=) | |
| 19 | g.34399982T>G | CA506999804 | GPI | c.1623T>G (p.Ser541=) c.1740T>G (p.Ser580=) c.1289T>G c.1656T>G (p.Ser552=) n.2668T>G c.*674T>G (n.*674T>G) n.2700T>G n.1361T>G c.*55T>G (n.*55T>G) c.1668T>G (p.Ser556=) c.193+3325T>G c.1539T>G (p.Ser513=) c.1596T>G (p.Ser532=) | |
| 19 | g.34399983A>C | CA405246744 | GPI | c.1624A>C (p.Thr542Pro) c.1741A>C (p.Thr581Pro) c.1290A>C c.1657A>C (p.Thr553Pro) n.2669A>C c.*675A>C (n.*675A>C) n.2701A>C n.1362A>C c.*56A>C (n.*56A>C) c.1669A>C (p.Thr557Pro) c.193+3326A>C c.1540A>C (p.Thr514Pro) c.1597A>C (p.Thr533Pro) | |
| 19 | g.34399983A>G | CA405246746 | GPI | c.1624A>G (p.Thr542Ala) c.1741A>G (p.Thr581Ala) c.1290A>G c.1657A>G (p.Thr553Ala) n.2669A>G c.*675A>G (n.*675A>G) n.2701A>G n.1362A>G c.*56A>G (n.*56A>G) c.1669A>G (p.Thr557Ala) c.193+3326A>G c.1540A>G (p.Thr514Ala) c.1597A>G (p.Thr533Ala) | |
| 19 | g.34399983A>T | CA405246745 | GPI | c.1624A>T (p.Thr542Ser) c.1741A>T (p.Thr581Ser) c.1290A>T c.1657A>T (p.Thr553Ser) n.2669A>T c.*675A>T (n.*675A>T) n.2701A>T n.1362A>T c.*56A>T (n.*56A>T) c.1669A>T (p.Thr557Ser) c.193+3326A>T c.1540A>T (p.Thr514Ser) c.1597A>T (p.Thr533Ser) | |
| 19 | g.34399984C>A | CA405246747 | GPI | c.1625C>A (p.Thr542Asn) c.1742C>A (p.Thr581Asn) c.1291C>A c.1658C>A (p.Thr553Asn) n.2670C>A c.*676C>A (n.*676C>A) n.2702C>A n.1363C>A c.*57C>A (n.*57C>A) c.1670C>A (p.Thr557Asn) c.193+3327C>A c.1541C>A (p.Thr514Asn) c.1598C>A (p.Thr533Asn) | |
| 19 | g.34399984C= | CA2333177917 | GPI | c.1625C= (p.Thr542=) c.1742C= (p.Thr581=) c.1291C= c.1658C= (p.Thr553=) n.2670C= c.*676C= (n.*676C=) n.2702C= n.1363C= c.*57C= (n.*57C=) c.1670C= (p.Thr557=) c.193+3327C= c.1541C= (p.Thr514=) c.1598C= (p.Thr533=) | |
| 19 | g.34399984C>G | CA405246748 | GPI | c.1625C>G (p.Thr542Ser) c.1742C>G (p.Thr581Ser) c.1291C>G c.1658C>G (p.Thr553Ser) n.2670C>G c.*676C>G (n.*676C>G) n.2702C>G n.1363C>G c.*57C>G (n.*57C>G) c.1670C>G (p.Thr557Ser) c.193+3327C>G c.1541C>G (p.Thr514Ser) c.1598C>G (p.Thr533Ser) | |
| 19 | g.34399984C>T | CA9367496 | GPI | c.1625C>T (p.Thr542Ile) c.1742C>T (p.Thr581Ile) c.1291C>T c.1658C>T (p.Thr553Ile) n.2670C>T c.*676C>T (n.*676C>T) n.2702C>T n.1363C>T c.*57C>T (n.*57C>T) c.1670C>T (p.Thr557Ile) c.193+3327C>T c.1541C>T (p.Thr514Ile) c.1598C>T (p.Thr533Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.34399985C>A | CA506999805 | GPI | c.1626C>A (p.Thr542=) c.1743C>A (p.Thr581=) c.1292C>A c.1659C>A (p.Thr553=) n.2671C>A c.*677C>A (n.*677C>A) n.2703C>A n.1364C>A c.*58C>A (n.*58C>A) c.1671C>A (p.Thr557=) c.193+3328C>A c.1542C>A (p.Thr514=) c.1599C>A (p.Thr533=) | |
| 19 | g.34399985C>G | CA506999806 | GPI | c.1626C>G (p.Thr542=) c.1743C>G (p.Thr581=) c.1292C>G c.1659C>G (p.Thr553=) n.2671C>G c.*677C>G (n.*677C>G) n.2703C>G n.1364C>G c.*58C>G (n.*58C>G) c.1671C>G (p.Thr557=) c.193+3328C>G c.1542C>G (p.Thr514=) c.1599C>G (p.Thr533=) | |
| 19 | g.34399985C>T | CA506999807 | GPI | c.1626C>T (p.Thr542=) c.1743C>T (p.Thr581=) c.1292C>T c.1659C>T (p.Thr553=) n.2671C>T c.*677C>T (n.*677C>T) n.2703C>T n.1364C>T c.*58C>T (n.*58C>T) c.1671C>T (p.Thr557=) c.193+3328C>T c.1542C>T (p.Thr514=) c.1599C>T (p.Thr533=) | |
| 19 | g.34399986A>C | CA405246749 | GPI | c.1627A>C (p.Asn543His) c.1744A>C (p.Asn582His) c.1293A>C c.1660A>C (p.Asn554His) n.2672A>C c.*678A>C (n.*678A>C) n.2704A>C n.1365A>C c.*59A>C (n.*59A>C) c.1672A>C (p.Asn558His) c.193+3329A>C c.1543A>C (p.Asn515His) c.1600A>C (p.Asn534His) | |
| 19 | g.34399986A>G | CA405246751 | GPI | c.1627A>G (p.Asn543Asp) c.1744A>G (p.Asn582Asp) c.1293A>G c.1660A>G (p.Asn554Asp) n.2672A>G c.*678A>G (n.*678A>G) n.2704A>G n.1365A>G c.*59A>G (n.*59A>G) c.1672A>G (p.Asn558Asp) c.193+3329A>G c.1543A>G (p.Asn515Asp) c.1600A>G (p.Asn534Asp) | |
| 19 | g.34399986A>T | CA405246750 | GPI | c.1627A>T (p.Asn543Tyr) c.1744A>T (p.Asn582Tyr) c.1293A>T c.1660A>T (p.Asn554Tyr) n.2672A>T c.*678A>T (n.*678A>T) n.2704A>T n.1365A>T c.*59A>T (n.*59A>T) c.1672A>T (p.Asn558Tyr) c.193+3329A>T c.1543A>T (p.Asn515Tyr) c.1600A>T (p.Asn534Tyr) | |
| 19 | g.34399987A= | CA2333177918 | GPI | c.1628A= (p.Asn543=) c.1745A= (p.Asn582=) c.1294A= c.1661A= (p.Asn554=) n.2673A= c.*679A= (n.*679A=) n.2705A= n.1366A= c.*60A= (n.*60A=) c.1673A= (p.Asn558=) c.193+3330A= c.1544A= (p.Asn515=) c.1601A= (p.Asn534=) | |
| 19 | g.34399987A>C | CA405246752 | GPI | c.1628A>C (p.Asn543Thr) c.1745A>C (p.Asn582Thr) c.1294A>C c.1661A>C (p.Asn554Thr) n.2673A>C c.*679A>C (n.*679A>C) n.2705A>C n.1366A>C c.*60A>C (n.*60A>C) c.1673A>C (p.Asn558Thr) c.193+3330A>C c.1544A>C (p.Asn515Thr) c.1601A>C (p.Asn534Thr) | |
| 19 | g.34399987A>G | CA9367497 | GPI | c.1628A>G (p.Asn543Ser) c.1745A>G (p.Asn582Ser) c.1294A>G c.1661A>G (p.Asn554Ser) n.2673A>G c.*679A>G (n.*679A>G) n.2705A>G n.1366A>G c.*60A>G (n.*60A>G) c.1673A>G (p.Asn558Ser) c.193+3330A>G c.1544A>G (p.Asn515Ser) c.1601A>G (p.Asn534Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.34399987A>T | CA405246753 | GPI | c.1628A>T (p.Asn543Ile) c.1745A>T (p.Asn582Ile) c.1294A>T c.1661A>T (p.Asn554Ile) n.2673A>T c.*679A>T (n.*679A>T) n.2705A>T n.1366A>T c.*60A>T (n.*60A>T) c.1673A>T (p.Asn558Ile) c.193+3330A>T c.1544A>T (p.Asn515Ile) c.1601A>T (p.Asn534Ile) | |
| 19 | g.34399988T>A | CA405246754 | GPI | c.1629T>A (p.Asn543Lys) c.1746T>A (p.Asn582Lys) c.1295T>A c.1662T>A (p.Asn554Lys) n.2674T>A c.*680T>A (n.*680T>A) n.2706T>A n.1367T>A c.*61T>A (n.*61T>A) c.1674T>A (p.Asn558Lys) c.193+3331T>A c.1545T>A (p.Asn515Lys) c.1602T>A (p.Asn534Lys) |