WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.75985986A= | CA1718180464 | POR | c.1508A= (p.Tyr503=) c.1634A= (p.Tyr545=) c.1733A= (p.Tyr578=) c.*109-74A= (n.*109-74A=) c.947A= (p.Tyr316=) c.1884A= c.*1038A= (n.*1038A=) n.344A= c.1787A= (p.Tyr596=) c.1583A= (p.Tyr528=) c.1724A= (p.Tyr575=) c.1778A= (p.Tyr593=) c.1574A= (p.Tyr525=) | |
| 7 | g.75985986A>C | CA367750558 | POR | c.1508A>C (p.Tyr503Ser) c.1634A>C (p.Tyr545Ser) c.1733A>C (p.Tyr578Ser) c.*109-74A>C (n.*109-74A>C) c.947A>C (p.Tyr316Ser) c.1884A>C c.*1038A>C (n.*1038A>C) n.344A>C c.1787A>C (p.Tyr596Ser) c.1583A>C (p.Tyr528Ser) c.1724A>C (p.Tyr575Ser) c.1778A>C (p.Tyr593Ser) c.1574A>C (p.Tyr525Ser) | |
| 7 | g.75985986A>G | CA257665 | POR | c.1508A>G (p.Tyr503Cys) c.1634A>G (p.Tyr545Cys) c.1733A>G (p.Tyr578Cys) c.*109-74A>G (n.*109-74A>G) c.947A>G (p.Tyr316Cys) c.1884A>G c.*1038A>G (n.*1038A>G) n.344A>G c.1787A>G (p.Tyr596Cys) c.1583A>G (p.Tyr528Cys) c.1724A>G (p.Tyr575Cys) c.1778A>G (p.Tyr593Cys) c.1574A>G (p.Tyr525Cys) | ClinVar dbSNP |
| 7 | g.75985986A>T | CA367750559 | POR | c.1508A>T (p.Tyr503Phe) c.1634A>T (p.Tyr545Phe) c.1733A>T (p.Tyr578Phe) c.*109-74A>T (n.*109-74A>T) c.947A>T (p.Tyr316Phe) c.1884A>T c.*1038A>T (n.*1038A>T) n.344A>T c.1787A>T (p.Tyr596Phe) c.1583A>T (p.Tyr528Phe) c.1724A>T (p.Tyr575Phe) c.1778A>T (p.Tyr593Phe) c.1574A>T (p.Tyr525Phe) | gnomAD v4 |
| 7 | g.75985987C>A | CA367750560 | POR | c.1509C>A (p.Tyr503Ter) c.1635C>A (p.Tyr545Ter) c.1734C>A (p.Tyr578Ter) c.*109-73C>A (n.*109-73C>A) c.948C>A (p.Tyr316Ter) c.1885C>A c.*1039C>A (n.*1039C>A) n.345C>A c.1788C>A (p.Tyr596Ter) c.1584C>A (p.Tyr528Ter) c.1725C>A (p.Tyr575Ter) c.1779C>A (p.Tyr593Ter) c.1575C>A (p.Tyr525Ter) | gnomAD v4 |
| 7 | g.75985987C= | CA1718180465 | POR | c.1509C= (p.Tyr503=) c.1635C= (p.Tyr545=) c.1734C= (p.Tyr578=) c.*109-73C= (n.*109-73C=) c.948C= (p.Tyr316=) c.1885C= c.*1039C= (n.*1039C=) n.345C= c.1788C= (p.Tyr596=) c.1584C= (p.Tyr528=) c.1725C= (p.Tyr575=) c.1779C= (p.Tyr593=) c.1575C= (p.Tyr525=) | |
| 7 | g.75985987C>G | CA367750561 | POR | c.1509C>G (p.Tyr503Ter) c.1635C>G (p.Tyr545Ter) c.1734C>G (p.Tyr578Ter) c.*109-73C>G (n.*109-73C>G) c.948C>G (p.Tyr316Ter) c.1885C>G c.*1039C>G (n.*1039C>G) n.345C>G c.1788C>G (p.Tyr596Ter) c.1584C>G (p.Tyr528Ter) c.1725C>G (p.Tyr575Ter) c.1779C>G (p.Tyr593Ter) c.1575C>G (p.Tyr525Ter) | |
| 7 | g.75985987C>T | CA456331398 | POR | c.1509C>T (p.Tyr503=) c.1635C>T (p.Tyr545=) c.1734C>T (p.Tyr578=) c.*109-73C>T (n.*109-73C>T) c.948C>T (p.Tyr316=) c.1885C>T c.*1039C>T (n.*1039C>T) n.345C>T c.1788C>T (p.Tyr596=) c.1584C>T (p.Tyr528=) c.1725C>T (p.Tyr575=) c.1779C>T (p.Tyr593=) c.1575C>T (p.Tyr525=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.75985988C>A | CA456331399 | POR | c.1510C>A (p.Arg504=) c.1636C>A (p.Arg546=) c.1735C>A (p.Arg579=) c.*109-72C>A (n.*109-72C>A) c.949C>A (p.Arg317=) c.1886C>A c.*1040C>A (n.*1040C>A) n.346C>A c.1789C>A (p.Arg597=) c.1585C>A (p.Arg529=) c.1726C>A (p.Arg576=) c.1780C>A (p.Arg594=) c.1576C>A (p.Arg526=) | gnomAD v4 |
| 7 | g.75985988C= | CA1718180466 | POR | c.1510C= (p.Arg504=) c.1636C= (p.Arg546=) c.1735C= (p.Arg579=) c.*109-72C= (n.*109-72C=) c.949C= (p.Arg317=) c.1886C= c.*1040C= (n.*1040C=) n.346C= c.1789C= (p.Arg597=) c.1585C= (p.Arg529=) c.1726C= (p.Arg576=) c.1780C= (p.Arg594=) c.1576C= (p.Arg526=) | |
| 7 | g.75985988C>G | CA367750562 | POR | c.1510C>G (p.Arg504Gly) c.1636C>G (p.Arg546Gly) c.1735C>G (p.Arg579Gly) c.*109-72C>G (n.*109-72C>G) c.949C>G (p.Arg317Gly) c.1886C>G c.*1040C>G (n.*1040C>G) n.346C>G c.1789C>G (p.Arg597Gly) c.1585C>G (p.Arg529Gly) c.1726C>G (p.Arg576Gly) c.1780C>G (p.Arg594Gly) c.1576C>G (p.Arg526Gly) | |
| 7 | g.75985988C>T | CA367750563 | POR | c.1510C>T (p.Arg504Trp) c.1636C>T (p.Arg546Trp) c.1735C>T (p.Arg579Trp) c.*109-72C>T (n.*109-72C>T) c.949C>T (p.Arg317Trp) c.1886C>T c.*1040C>T (n.*1040C>T) n.346C>T c.1789C>T (p.Arg597Trp) c.1585C>T (p.Arg529Trp) c.1726C>T (p.Arg576Trp) c.1780C>T (p.Arg594Trp) c.1576C>T (p.Arg526Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.75985989G>A | CA4304265 | POR | c.1511G>A (p.Arg504Gln) c.1637G>A (p.Arg546Gln) c.1736G>A (p.Arg579Gln) c.*109-71G>A (n.*109-71G>A) c.950G>A (p.Arg317Gln) c.1887G>A c.*1041G>A (n.*1041G>A) n.347G>A c.1790G>A (p.Arg597Gln) c.1586G>A (p.Arg529Gln) c.1727G>A (p.Arg576Gln) c.1781G>A (p.Arg594Gln) c.1577G>A (p.Arg526Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.75985989G>C | CA4304266 | POR | c.1511G>C (p.Arg504Pro) c.1637G>C (p.Arg546Pro) c.1736G>C (p.Arg579Pro) c.*109-71G>C (n.*109-71G>C) c.950G>C (p.Arg317Pro) c.1887G>C c.*1041G>C (n.*1041G>C) n.347G>C c.1790G>C (p.Arg597Pro) c.1586G>C (p.Arg529Pro) c.1727G>C (p.Arg576Pro) c.1781G>C (p.Arg594Pro) c.1577G>C (p.Arg526Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.75985989G= | CA1718180467 | POR | c.1511G= (p.Arg504=) c.1637G= (p.Arg546=) c.1736G= (p.Arg579=) c.*109-71G= (n.*109-71G=) c.950G= (p.Arg317=) c.1887G= c.*1041G= (n.*1041G=) n.347G= c.1790G= (p.Arg597=) c.1586G= (p.Arg529=) c.1727G= (p.Arg576=) c.1781G= (p.Arg594=) c.1577G= (p.Arg526=) | |
| 7 | g.75985989G>T | CA367750564 | POR | c.1511G>T (p.Arg504Leu) c.1637G>T (p.Arg546Leu) c.1736G>T (p.Arg579Leu) c.*109-71G>T (n.*109-71G>T) c.950G>T (p.Arg317Leu) c.1887G>T c.*1041G>T (n.*1041G>T) n.347G>T c.1790G>T (p.Arg597Leu) c.1586G>T (p.Arg529Leu) c.1727G>T (p.Arg576Leu) c.1781G>T (p.Arg594Leu) c.1577G>T (p.Arg526Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.75985990G>A | CA456331400 | POR | c.1512G>A (p.Arg504=) c.1638G>A (p.Arg546=) c.1737G>A (p.Arg579=) c.*109-70G>A (n.*109-70G>A) c.951G>A (p.Arg317=) c.1888G>A c.*1042G>A (n.*1042G>A) n.348G>A c.1791G>A (p.Arg597=) c.1587G>A (p.Arg529=) c.1728G>A (p.Arg576=) c.1782G>A (p.Arg594=) c.1578G>A (p.Arg526=) | gnomAD v4 |
| 7 | g.75985990G>C | CA456331401 | POR | c.1512G>C (p.Arg504=) c.1638G>C (p.Arg546=) c.1737G>C (p.Arg579=) c.*109-70G>C (n.*109-70G>C) c.951G>C (p.Arg317=) c.1888G>C c.*1042G>C (n.*1042G>C) n.348G>C c.1791G>C (p.Arg597=) c.1587G>C (p.Arg529=) c.1728G>C (p.Arg576=) c.1782G>C (p.Arg594=) c.1578G>C (p.Arg526=) | |
| 7 | g.75985990G>T | CA456331403 | POR | c.1512G>T (p.Arg504=) c.1638G>T (p.Arg546=) c.1737G>T (p.Arg579=) c.*109-70G>T (n.*109-70G>T) c.951G>T (p.Arg317=) c.1888G>T c.*1042G>T (n.*1042G>T) n.348G>T c.1791G>T (p.Arg597=) c.1587G>T (p.Arg529=) c.1728G>T (p.Arg576=) c.1782G>T (p.Arg594=) c.1578G>T (p.Arg526=) | gnomAD v4 |
| 7 | g.75985991G>A | CA367750565 | POR | c.1513G>A (p.Glu505Lys) c.1639G>A (p.Glu547Lys) c.1738G>A (p.Glu580Lys) c.*109-69G>A (n.*109-69G>A) c.952G>A (p.Glu318Lys) c.1889G>A c.*1043G>A (n.*1043G>A) n.349G>A c.1792G>A (p.Glu598Lys) c.1588G>A (p.Glu530Lys) c.1729G>A (p.Glu577Lys) c.1783G>A (p.Glu595Lys) c.1579G>A (p.Glu527Lys) | |
| 7 | g.75985991G>C | CA4304267 | POR | c.1513G>C (p.Glu505Gln) c.1639G>C (p.Glu547Gln) c.1738G>C (p.Glu580Gln) c.*109-69G>C (n.*109-69G>C) c.952G>C (p.Glu318Gln) c.1889G>C c.*1043G>C (n.*1043G>C) n.349G>C c.1792G>C (p.Glu598Gln) c.1588G>C (p.Glu530Gln) c.1729G>C (p.Glu577Gln) c.1783G>C (p.Glu595Gln) c.1579G>C (p.Glu527Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.75985991G= | CA1718180468 | POR | c.1513G= (p.Glu505=) c.1639G= (p.Glu547=) c.1738G= (p.Glu580=) c.*109-69G= (n.*109-69G=) c.952G= (p.Glu318=) c.1889G= c.*1043G= (n.*1043G=) n.349G= c.1792G= (p.Glu598=) c.1588G= (p.Glu530=) c.1729G= (p.Glu577=) c.1783G= (p.Glu595=) c.1579G= (p.Glu527=) | |
| 7 | g.75985991G>T | CA367750566 | POR | c.1513G>T (p.Glu505Ter) c.1639G>T (p.Glu547Ter) c.1738G>T (p.Glu580Ter) c.*109-69G>T (n.*109-69G>T) c.952G>T (p.Glu318Ter) c.1889G>T c.*1043G>T (n.*1043G>T) n.349G>T c.1792G>T (p.Glu598Ter) c.1588G>T (p.Glu530Ter) c.1729G>T (p.Glu577Ter) c.1783G>T (p.Glu595Ter) c.1579G>T (p.Glu527Ter) | gnomAD v4 |
| 7 | g.75985992A>C | CA367750567 | POR | c.1514A>C (p.Glu505Ala) c.1640A>C (p.Glu547Ala) c.1739A>C (p.Glu580Ala) c.*109-68A>C (n.*109-68A>C) c.953A>C (p.Glu318Ala) c.1890A>C c.*1044A>C (n.*1044A>C) n.350A>C c.1793A>C (p.Glu598Ala) c.1589A>C (p.Glu530Ala) c.1730A>C (p.Glu577Ala) c.1784A>C (p.Glu595Ala) c.1580A>C (p.Glu527Ala) | |
| 7 | g.75985992A>G | CA367750569 | POR | c.1514A>G (p.Glu505Gly) c.1640A>G (p.Glu547Gly) c.1739A>G (p.Glu580Gly) c.*109-68A>G (n.*109-68A>G) c.953A>G (p.Glu318Gly) c.1890A>G c.*1044A>G (n.*1044A>G) n.350A>G c.1793A>G (p.Glu598Gly) c.1589A>G (p.Glu530Gly) c.1730A>G (p.Glu577Gly) c.1784A>G (p.Glu595Gly) c.1580A>G (p.Glu527Gly) | gnomAD v4 |
| 7 | g.75985992A>T | CA367750568 | POR | c.1514A>T (p.Glu505Val) c.1640A>T (p.Glu547Val) c.1739A>T (p.Glu580Val) c.*109-68A>T (n.*109-68A>T) c.953A>T (p.Glu318Val) c.1890A>T c.*1044A>T (n.*1044A>T) n.350A>T c.1793A>T (p.Glu598Val) c.1589A>T (p.Glu530Val) c.1730A>T (p.Glu577Val) c.1784A>T (p.Glu595Val) c.1580A>T (p.Glu527Val) | gnomAD v3 gnomAD v4 |
| 7 | g.75985993G>A | CA456331407 | POR | c.1515G>A (p.Glu505=) c.1641G>A (p.Glu547=) c.1740G>A (p.Glu580=) c.*109-67G>A (n.*109-67G>A) c.954G>A (p.Glu318=) c.1891G>A c.*1045G>A (n.*1045G>A) n.351G>A c.1794G>A (p.Glu598=) c.1590G>A (p.Glu530=) c.1731G>A (p.Glu577=) c.1785G>A (p.Glu595=) c.1581G>A (p.Glu527=) | ClinVar |
| 7 | g.75985993G>C | CA367750570 | POR | c.1515G>C (p.Glu505Asp) c.1641G>C (p.Glu547Asp) c.1740G>C (p.Glu580Asp) c.*109-67G>C (n.*109-67G>C) c.954G>C (p.Glu318Asp) c.1891G>C c.*1045G>C (n.*1045G>C) n.351G>C c.1794G>C (p.Glu598Asp) c.1590G>C (p.Glu530Asp) c.1731G>C (p.Glu577Asp) c.1785G>C (p.Glu595Asp) c.1581G>C (p.Glu527Asp) | |
| 7 | g.75985993G>T | CA367750571 | POR | c.1515G>T (p.Glu505Asp) c.1641G>T (p.Glu547Asp) c.1740G>T (p.Glu580Asp) c.*109-67G>T (n.*109-67G>T) c.954G>T (p.Glu318Asp) c.1891G>T c.*1045G>T (n.*1045G>T) n.351G>T c.1794G>T (p.Glu598Asp) c.1590G>T (p.Glu530Asp) c.1731G>T (p.Glu577Asp) c.1785G>T (p.Glu595Asp) c.1581G>T (p.Glu527Asp) | gnomAD v4 |
| 7 | g.75985994G>A | CA367750572 | POR | c.1516G>A (p.Glu506Lys) c.1642G>A (p.Glu548Lys) c.1741G>A (p.Glu581Lys) c.*109-66G>A (n.*109-66G>A) c.955G>A (p.Glu319Lys) c.1892G>A c.*1046G>A (n.*1046G>A) n.352G>A c.1795G>A (p.Glu599Lys) c.1591G>A (p.Glu531Lys) c.1732G>A (p.Glu578Lys) c.1786G>A (p.Glu596Lys) c.1582G>A (p.Glu528Lys) | |
| 7 | g.75985994G>C | CA367750573 | POR | c.1516G>C (p.Glu506Gln) c.1642G>C (p.Glu548Gln) c.1741G>C (p.Glu581Gln) c.*109-66G>C (n.*109-66G>C) c.955G>C (p.Glu319Gln) c.1892G>C c.*1046G>C (n.*1046G>C) n.352G>C c.1795G>C (p.Glu599Gln) c.1591G>C (p.Glu531Gln) c.1732G>C (p.Glu578Gln) c.1786G>C (p.Glu596Gln) c.1582G>C (p.Glu528Gln) | |
| 7 | g.75985994G>T | CA367750574 | POR | c.1516G>T (p.Glu506Ter) c.1642G>T (p.Glu548Ter) c.1741G>T (p.Glu581Ter) c.*109-66G>T (n.*109-66G>T) c.955G>T (p.Glu319Ter) c.1892G>T c.*1046G>T (n.*1046G>T) n.352G>T c.1795G>T (p.Glu599Ter) c.1591G>T (p.Glu531Ter) c.1732G>T (p.Glu578Ter) c.1786G>T (p.Glu596Ter) c.1582G>T (p.Glu528Ter) | |
| 7 | g.75985995A>C | CA367750575 | POR | c.1517A>C (p.Glu506Ala) c.1643A>C (p.Glu548Ala) c.1742A>C (p.Glu581Ala) c.*109-65A>C (n.*109-65A>C) c.956A>C (p.Glu319Ala) c.1893A>C c.*1047A>C (n.*1047A>C) n.353A>C c.1796A>C (p.Glu599Ala) c.1592A>C (p.Glu531Ala) c.1733A>C (p.Glu578Ala) c.1787A>C (p.Glu596Ala) c.1583A>C (p.Glu528Ala) | |
| 7 | g.75985995A>G | CA367750576 | POR | c.1517A>G (p.Glu506Gly) c.1643A>G (p.Glu548Gly) c.1742A>G (p.Glu581Gly) c.*109-65A>G (n.*109-65A>G) c.956A>G (p.Glu319Gly) c.1893A>G c.*1047A>G (n.*1047A>G) n.353A>G c.1796A>G (p.Glu599Gly) c.1592A>G (p.Glu531Gly) c.1733A>G (p.Glu578Gly) c.1787A>G (p.Glu596Gly) c.1583A>G (p.Glu528Gly) | gnomAD v3 gnomAD v4 |
| 7 | g.75985995A>T | CA367750577 | POR | c.1517A>T (p.Glu506Val) c.1643A>T (p.Glu548Val) c.1742A>T (p.Glu581Val) c.*109-65A>T (n.*109-65A>T) c.956A>T (p.Glu319Val) c.1893A>T c.*1047A>T (n.*1047A>T) n.353A>T c.1796A>T (p.Glu599Val) c.1592A>T (p.Glu531Val) c.1733A>T (p.Glu578Val) c.1787A>T (p.Glu596Val) c.1583A>T (p.Glu528Val) | |
| 7 | g.75985996G>A | CA456331412 | POR | c.1518G>A (p.Glu506=) c.1644G>A (p.Glu548=) c.1743G>A (p.Glu581=) c.*109-64G>A (n.*109-64G>A) c.957G>A (p.Glu319=) c.1894G>A c.*1048G>A (n.*1048G>A) n.354G>A c.1797G>A (p.Glu599=) c.1593G>A (p.Glu531=) c.1734G>A (p.Glu578=) c.1788G>A (p.Glu596=) c.1584G>A (p.Glu528=) | |
| 7 | g.75985996G>C | CA367750578 | POR | c.1518G>C (p.Glu506Asp) c.1644G>C (p.Glu548Asp) c.1743G>C (p.Glu581Asp) c.*109-64G>C (n.*109-64G>C) c.957G>C (p.Glu319Asp) c.1894G>C c.*1048G>C (n.*1048G>C) n.354G>C c.1797G>C (p.Glu599Asp) c.1593G>C (p.Glu531Asp) c.1734G>C (p.Glu578Asp) c.1788G>C (p.Glu596Asp) c.1584G>C (p.Glu528Asp) | |
| 7 | g.75985996G= | CA1718180469 | POR | c.1518G= (p.Glu506=) c.1644G= (p.Glu548=) c.1743G= (p.Glu581=) c.*109-64G= (n.*109-64G=) c.957G= (p.Glu319=) c.1894G= c.*1048G= (n.*1048G=) n.354G= c.1797G= (p.Glu599=) c.1593G= (p.Glu531=) c.1734G= (p.Glu578=) c.1788G= (p.Glu596=) c.1584G= (p.Glu528=) | |
| 7 | g.75985996G>T | CA367750579 | POR | c.1518G>T (p.Glu506Asp) c.1644G>T (p.Glu548Asp) c.1743G>T (p.Glu581Asp) c.*109-64G>T (n.*109-64G>T) c.957G>T (p.Glu319Asp) c.1894G>T c.*1048G>T (n.*1048G>T) n.354G>T c.1797G>T (p.Glu599Asp) c.1593G>T (p.Glu531Asp) c.1734G>T (p.Glu578Asp) c.1788G>T (p.Glu596Asp) c.1584G>T (p.Glu528Asp) | dbSNP gnomAD v4 |
| 7 | g.75985997C>A | CA367750581 | POR | c.1519C>A (p.Leu507Met) c.1645C>A (p.Leu549Met) c.1744C>A (p.Leu582Met) c.*109-63C>A (n.*109-63C>A) c.958C>A (p.Leu320Met) c.1895C>A c.*1049C>A (n.*1049C>A) n.355C>A c.1798C>A (p.Leu600Met) c.1594C>A (p.Leu532Met) c.1735C>A (p.Leu579Met) c.1789C>A (p.Leu597Met) c.1585C>A (p.Leu529Met) | gnomAD v4 |
| 7 | g.75985997C>G | CA367750580 | POR | c.1519C>G (p.Leu507Val) c.1645C>G (p.Leu549Val) c.1744C>G (p.Leu582Val) c.*109-63C>G (n.*109-63C>G) c.958C>G (p.Leu320Val) c.1895C>G c.*1049C>G (n.*1049C>G) n.355C>G c.1798C>G (p.Leu600Val) c.1594C>G (p.Leu532Val) c.1735C>G (p.Leu579Val) c.1789C>G (p.Leu597Val) c.1585C>G (p.Leu529Val) | |
| 7 | g.75985997C>T | CA456331416 | POR | c.1519C>T (p.Leu507=) c.1645C>T (p.Leu549=) c.1744C>T (p.Leu582=) c.*109-63C>T (n.*109-63C>T) c.958C>T (p.Leu320=) c.1895C>T c.*1049C>T (n.*1049C>T) n.355C>T c.1798C>T (p.Leu600=) c.1594C>T (p.Leu532=) c.1735C>T (p.Leu579=) c.1789C>T (p.Leu597=) c.1585C>T (p.Leu529=) | |
| 7 | g.75985998T>A | CA367750582 | POR | c.1520T>A (p.Leu507Gln) c.1646T>A (p.Leu549Gln) c.1745T>A (p.Leu582Gln) c.*109-62T>A (n.*109-62T>A) c.959T>A (p.Leu320Gln) c.1896T>A c.*1050T>A (n.*1050T>A) n.356T>A c.1799T>A (p.Leu600Gln) c.1595T>A (p.Leu532Gln) c.1736T>A (p.Leu579Gln) c.1790T>A (p.Leu597Gln) c.1586T>A (p.Leu529Gln) | |
| 7 | g.75985998T>C | CA367750583 | POR | c.1520T>C (p.Leu507Pro) c.1646T>C (p.Leu549Pro) c.1745T>C (p.Leu582Pro) c.*109-62T>C (n.*109-62T>C) c.959T>C (p.Leu320Pro) c.1896T>C c.*1050T>C (n.*1050T>C) n.356T>C c.1799T>C (p.Leu600Pro) c.1595T>C (p.Leu532Pro) c.1736T>C (p.Leu579Pro) c.1790T>C (p.Leu597Pro) c.1586T>C (p.Leu529Pro) | |
| 7 | g.75985998T>G | CA367750584 | POR | c.1520T>G (p.Leu507Arg) c.1646T>G (p.Leu549Arg) c.1745T>G (p.Leu582Arg) c.*109-62T>G (n.*109-62T>G) c.959T>G (p.Leu320Arg) c.1896T>G c.*1050T>G (n.*1050T>G) n.356T>G c.1799T>G (p.Leu600Arg) c.1595T>G (p.Leu532Arg) c.1736T>G (p.Leu579Arg) c.1790T>G (p.Leu597Arg) c.1586T>G (p.Leu529Arg) | |
| 7 | g.75985999G>A | CA456331423 | POR | c.1521G>A (p.Leu507=) c.1647G>A (p.Leu549=) c.1746G>A (p.Leu582=) c.*109-61G>A (n.*109-61G>A) c.960G>A (p.Leu320=) c.1897G>A c.*1051G>A (n.*1051G>A) n.357G>A c.1800G>A (p.Leu600=) c.1596G>A (p.Leu532=) c.1737G>A (p.Leu579=) c.1791G>A (p.Leu597=) c.1587G>A (p.Leu529=) | gnomAD v4 |
| 7 | g.75985999G>C | CA456331424 | POR | c.1521G>C (p.Leu507=) c.1647G>C (p.Leu549=) c.1746G>C (p.Leu582=) c.*109-61G>C (n.*109-61G>C) c.960G>C (p.Leu320=) c.1897G>C c.*1051G>C (n.*1051G>C) n.357G>C c.1800G>C (p.Leu600=) c.1596G>C (p.Leu532=) c.1737G>C (p.Leu579=) c.1791G>C (p.Leu597=) c.1587G>C (p.Leu529=) | |
| 7 | g.75985999G>T | CA456331425 | POR | c.1521G>T (p.Leu507=) c.1647G>T (p.Leu549=) c.1746G>T (p.Leu582=) c.*109-61G>T (n.*109-61G>T) c.960G>T (p.Leu320=) c.1897G>T c.*1051G>T (n.*1051G>T) n.357G>T c.1800G>T (p.Leu600=) c.1596G>T (p.Leu532=) c.1737G>T (p.Leu579=) c.1791G>T (p.Leu597=) c.1587G>T (p.Leu529=) | gnomAD v4 |
| 7 | g.75986000G>A | CA367750585 | POR | c.1522G>A (p.Ala508Thr) c.1648G>A (p.Ala550Thr) c.1747G>A (p.Ala583Thr) c.*109-60G>A (n.*109-60G>A) c.961G>A (p.Ala321Thr) c.1898G>A c.*1052G>A (n.*1052G>A) n.358G>A c.1801G>A (p.Ala601Thr) c.1597G>A (p.Ala533Thr) c.1738G>A (p.Ala580Thr) c.1792G>A (p.Ala598Thr) c.1588G>A (p.Ala530Thr) | gnomAD v4 |
| 7 | g.75986000G>C | CA367750586 | POR | c.1522G>C (p.Ala508Pro) c.1648G>C (p.Ala550Pro) c.1747G>C (p.Ala583Pro) c.*109-60G>C (n.*109-60G>C) c.961G>C (p.Ala321Pro) c.1898G>C c.*1052G>C (n.*1052G>C) n.358G>C c.1801G>C (p.Ala601Pro) c.1597G>C (p.Ala533Pro) c.1738G>C (p.Ala580Pro) c.1792G>C (p.Ala598Pro) c.1588G>C (p.Ala530Pro) | dbSNP |