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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.5628611_5634201del | CA1139658424 | EVC2 | c.1471-2168_1835del c.1231-2168_1595del c.1223-2168_*228del c.1480-2168_1844del c.1240-2168_1604del c.-210-2168_155del c.-314-236_155del n.1536-2168_1900del | ClinVar |
| 4 | g.5628622C>A | CA2834928 | EVC2 | c.1823G>T (p.Arg608Leu) c.1583G>T (p.Arg528Leu) c.*216G>T (n.*216G>T) c.1832G>T (p.Arg611Leu) c.1592G>T (p.Arg531Leu) c.143G>T (p.Arg48Leu) n.1888G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5628622C= | CA1435424953 | EVC2 | c.1823G= (p.Arg608=) c.1583G= (p.Arg528=) c.*216G= (n.*216G=) c.1832G= (p.Arg611=) c.1592G= (p.Arg531=) c.143G= (p.Arg48=) n.1888G= | |
| 4 | g.5628622C>G | CA356147614 | EVC2 | c.1823G>C (p.Arg608Pro) c.1583G>C (p.Arg528Pro) c.*216G>C (n.*216G>C) c.1832G>C (p.Arg611Pro) c.1592G>C (p.Arg531Pro) c.143G>C (p.Arg48Pro) n.1888G>C | dbSNP |
| 4 | g.5628622C>T | CA2834927 | EVC2 | c.1823G>A (p.Arg608His) c.1583G>A (p.Arg528His) c.*216G>A (n.*216G>A) c.1832G>A (p.Arg611His) c.1592G>A (p.Arg531His) c.143G>A (p.Arg48His) n.1888G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.5628623G>A | CA2834929 | EVC2 | c.1822C>T (p.Arg608Cys) c.1582C>T (p.Arg528Cys) c.*215C>T (n.*215C>T) c.1831C>T (p.Arg611Cys) c.1591C>T (p.Arg531Cys) c.142C>T (p.Arg48Cys) n.1887C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.5628623G>C | CA356147617 | EVC2 | c.1822C>G (p.Arg608Gly) c.1582C>G (p.Arg528Gly) c.*215C>G (n.*215C>G) c.1831C>G (p.Arg611Gly) c.1591C>G (p.Arg531Gly) c.142C>G (p.Arg48Gly) n.1887C>G | |
| 4 | g.5628623G= | CA1435424959 | EVC2 | c.1822C= (p.Arg608=) c.1582C= (p.Arg528=) c.*215C= (n.*215C=) c.1831C= (p.Arg611=) c.1591C= (p.Arg531=) c.142C= (p.Arg48=) n.1887C= | |
| 4 | g.5628623G>T | CA356147618 | EVC2 | c.1822C>A (p.Arg608Ser) c.1582C>A (p.Arg528Ser) c.*215C>A (n.*215C>A) c.1831C>A (p.Arg611Ser) c.1591C>A (p.Arg531Ser) c.142C>A (p.Arg48Ser) n.1887C>A | |
| 4 | g.5628624G>A | CA438205061 | EVC2 | c.1821C>T (p.Thr607=) c.1581C>T (p.Thr527=) c.*214C>T (n.*214C>T) c.1830C>T (p.Thr610=) c.1590C>T (p.Thr530=) c.141C>T (p.Thr47=) n.1886C>T | COSMIC COSMIC |
| 4 | g.5628624G>C | CA438205062 | EVC2 | c.1821C>G (p.Thr607=) c.1581C>G (p.Thr527=) c.*214C>G (n.*214C>G) c.1830C>G (p.Thr610=) c.1590C>G (p.Thr530=) c.141C>G (p.Thr47=) n.1886C>G | gnomAD v4 |
| 4 | g.5628624G= | CA1435424964 | EVC2 | c.1821C= (p.Thr607=) c.1581C= (p.Thr527=) c.*214C= (n.*214C=) c.1830C= (p.Thr610=) c.1590C= (p.Thr530=) c.141C= (p.Thr47=) n.1886C= | |
| 4 | g.5628624G>T | CA438205064 | EVC2 | c.1821C>A (p.Thr607=) c.1581C>A (p.Thr527=) c.*214C>A (n.*214C>A) c.1830C>A (p.Thr610=) c.1590C>A (p.Thr530=) c.141C>A (p.Thr47=) n.1886C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628625G>A | CA91712370 | EVC2 | c.1820C>T (p.Thr607Ile) c.1580C>T (p.Thr527Ile) c.*213C>T (n.*213C>T) c.1829C>T (p.Thr610Ile) c.1589C>T (p.Thr530Ile) c.140C>T (p.Thr47Ile) n.1885C>T | dbSNP |
| 4 | g.5628625G>C | CA356147619 | EVC2 | c.1820C>G (p.Thr607Ser) c.1580C>G (p.Thr527Ser) c.*213C>G (n.*213C>G) c.1829C>G (p.Thr610Ser) c.1589C>G (p.Thr530Ser) c.140C>G (p.Thr47Ser) n.1885C>G | |
| 4 | g.5628625G= | CA1435424967 | EVC2 | c.1820C= (p.Thr607=) c.1580C= (p.Thr527=) c.*213C= (n.*213C=) c.1829C= (p.Thr610=) c.1589C= (p.Thr530=) c.140C= (p.Thr47=) n.1885C= | |
| 4 | g.5628625G>T | CA356147620 | EVC2 | c.1820C>A (p.Thr607Asn) c.1580C>A (p.Thr527Asn) c.*213C>A (n.*213C>A) c.1829C>A (p.Thr610Asn) c.1589C>A (p.Thr530Asn) c.140C>A (p.Thr47Asn) n.1885C>A | |
| 4 | g.5628626T>A | CA356147622 | EVC2 | c.1819A>T (p.Thr607Ser) c.1579A>T (p.Thr527Ser) c.*212A>T (n.*212A>T) c.1828A>T (p.Thr610Ser) c.1588A>T (p.Thr530Ser) c.139A>T (p.Thr47Ser) n.1884A>T | |
| 4 | g.5628626T>C | CA356147624 | EVC2 | c.1819A>G (p.Thr607Ala) c.1579A>G (p.Thr527Ala) c.*212A>G (n.*212A>G) c.1828A>G (p.Thr610Ala) c.1588A>G (p.Thr530Ala) c.139A>G (p.Thr47Ala) n.1884A>G | |
| 4 | g.5628626T>G | CA356147625 | EVC2 | c.1819A>C (p.Thr607Pro) c.1579A>C (p.Thr527Pro) c.*212A>C (n.*212A>C) c.1828A>C (p.Thr610Pro) c.1588A>C (p.Thr530Pro) c.139A>C (p.Thr47Pro) n.1884A>C | |
| 4 | g.5628627C>A | CA356147627 | EVC2 | c.1818G>T (p.Glu606Asp) c.1578G>T (p.Glu526Asp) c.*211G>T (n.*211G>T) c.1827G>T (p.Glu609Asp) c.1587G>T (p.Glu529Asp) c.138G>T (p.Glu46Asp) n.1883G>T | |
| 4 | g.5628627C>G | CA356147629 | EVC2 | c.1818G>C (p.Glu606Asp) c.1578G>C (p.Glu526Asp) c.*211G>C (n.*211G>C) c.1827G>C (p.Glu609Asp) c.1587G>C (p.Glu529Asp) c.138G>C (p.Glu46Asp) n.1883G>C | gnomAD v4 |
| 4 | g.5628627C>T | CA438205067 | EVC2 | c.1818G>A (p.Glu606=) c.1578G>A (p.Glu526=) c.*211G>A (n.*211G>A) c.1827G>A (p.Glu609=) c.1587G>A (p.Glu529=) c.138G>A (p.Glu46=) n.1883G>A | |
| 4 | g.5628628T>A | CA356147633 | EVC2 | c.1817A>T (p.Glu606Val) c.1577A>T (p.Glu526Val) c.*210A>T (n.*210A>T) c.1826A>T (p.Glu609Val) c.1586A>T (p.Glu529Val) c.137A>T (p.Glu46Val) n.1882A>T | |
| 4 | g.5628628T>C | CA356147631 | EVC2 | c.1817A>G (p.Glu606Gly) c.1577A>G (p.Glu526Gly) c.*210A>G (n.*210A>G) c.1826A>G (p.Glu609Gly) c.1586A>G (p.Glu529Gly) c.137A>G (p.Glu46Gly) n.1882A>G | |
| 4 | g.5628628T>G | CA356147632 | EVC2 | c.1817A>C (p.Glu606Ala) c.1577A>C (p.Glu526Ala) c.*210A>C (n.*210A>C) c.1826A>C (p.Glu609Ala) c.1586A>C (p.Glu529Ala) c.137A>C (p.Glu46Ala) n.1882A>C | |
| 4 | g.5628629C>A | CA356147634 | EVC2 | c.1816G>T (p.Glu606Ter) c.1576G>T (p.Glu526Ter) c.*209G>T (n.*209G>T) c.1825G>T (p.Glu609Ter) c.1585G>T (p.Glu529Ter) c.136G>T (p.Glu46Ter) n.1881G>T | |
| 4 | g.5628629C= | CA1435424971 | EVC2 | c.1816G= (p.Glu606=) c.1576G= (p.Glu526=) c.*209G= (n.*209G=) c.1825G= (p.Glu609=) c.1585G= (p.Glu529=) c.136G= (p.Glu46=) n.1881G= | |
| 4 | g.5628629C>G | CA356147635 | EVC2 | c.1816G>C (p.Glu606Gln) c.1576G>C (p.Glu526Gln) c.*209G>C (n.*209G>C) c.1825G>C (p.Glu609Gln) c.1585G>C (p.Glu529Gln) c.136G>C (p.Glu46Gln) n.1881G>C | |
| 4 | g.5628629C>T | CA356147637 | EVC2 | c.1816G>A (p.Glu606Lys) c.1576G>A (p.Glu526Lys) c.*209G>A (n.*209G>A) c.1825G>A (p.Glu609Lys) c.1585G>A (p.Glu529Lys) c.136G>A (p.Glu46Lys) n.1881G>A | dbSNP gnomAD v4 |
| 4 | g.5628630T>A | CA438205072 | EVC2 | c.1815A>T (p.Ser605=) c.1575A>T (p.Ser525=) c.*208A>T (n.*208A>T) c.1824A>T (p.Ser608=) c.1584A>T (p.Ser528=) c.135A>T (p.Ser45=) n.1880A>T | |
| 4 | g.5628630T>C | CA438205074 | EVC2 | c.1815A>G (p.Ser605=) c.1575A>G (p.Ser525=) c.*208A>G (n.*208A>G) c.1824A>G (p.Ser608=) c.1584A>G (p.Ser528=) c.135A>G (p.Ser45=) n.1880A>G | |
| 4 | g.5628630T>G | CA438205076 | EVC2 | c.1815A>C (p.Ser605=) c.1575A>C (p.Ser525=) c.*208A>C (n.*208A>C) c.1824A>C (p.Ser608=) c.1584A>C (p.Ser528=) c.135A>C (p.Ser45=) n.1880A>C | |
| 4 | g.5628631G>A | CA356147638 | EVC2 | c.1814C>T (p.Ser605Leu) c.1574C>T (p.Ser525Leu) c.*207C>T (n.*207C>T) c.1823C>T (p.Ser608Leu) c.1583C>T (p.Ser528Leu) c.134C>T (p.Ser45Leu) n.1879C>T | dbSNP gnomAD v4 COSMIC COSMIC |
| 4 | g.5628631G>C | CA356147640 | EVC2 | c.1814C>G (p.Ser605Ter) c.1574C>G (p.Ser525Ter) c.*207C>G (n.*207C>G) c.1823C>G (p.Ser608Ter) c.1583C>G (p.Ser528Ter) c.134C>G (p.Ser45Ter) n.1879C>G | |
| 4 | g.5628631G= | CA1435424973 | EVC2 | c.1814C= (p.Ser605=) c.1574C= (p.Ser525=) c.*207C= (n.*207C=) c.1823C= (p.Ser608=) c.1583C= (p.Ser528=) c.134C= (p.Ser45=) n.1879C= | |
| 4 | g.5628631G>T | CA356147641 | EVC2 | c.1814C>A (p.Ser605Ter) c.1574C>A (p.Ser525Ter) c.*207C>A (n.*207C>A) c.1823C>A (p.Ser608Ter) c.1583C>A (p.Ser528Ter) c.134C>A (p.Ser45Ter) n.1879C>A | |
| 4 | g.5628632A>C | CA356147642 | EVC2 | c.1813T>G (p.Ser605Ala) c.1573T>G (p.Ser525Ala) c.*206T>G (n.*206T>G) c.1822T>G (p.Ser608Ala) c.1582T>G (p.Ser528Ala) c.133T>G (p.Ser45Ala) n.1878T>G | |
| 4 | g.5628632A>G | CA356147644 | EVC2 | c.1813T>C (p.Ser605Pro) c.1573T>C (p.Ser525Pro) c.*206T>C (n.*206T>C) c.1822T>C (p.Ser608Pro) c.1582T>C (p.Ser528Pro) c.133T>C (p.Ser45Pro) n.1878T>C | |
| 4 | g.5628632A>T | CA356147645 | EVC2 | c.1813T>A (p.Ser605Thr) c.1573T>A (p.Ser525Thr) c.*206T>A (n.*206T>A) c.1822T>A (p.Ser608Thr) c.1582T>A (p.Ser528Thr) c.133T>A (p.Ser45Thr) n.1878T>A | |
| 4 | g.5628633T>A | CA438205081 | EVC2 | c.1812A>T (p.Ser604=) c.1572A>T (p.Ser524=) c.*205A>T (n.*205A>T) c.1821A>T (p.Ser607=) c.1581A>T (p.Ser527=) c.132A>T (p.Ser44=) n.1877A>T | gnomAD v4 |
| 4 | g.5628633T>C | CA2834930 | EVC2 | c.1812A>G (p.Ser604=) c.1572A>G (p.Ser524=) c.*205A>G (n.*205A>G) c.1821A>G (p.Ser607=) c.1581A>G (p.Ser527=) c.132A>G (p.Ser44=) n.1877A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5628633T>G | CA438205085 | EVC2 | c.1812A>C (p.Ser604=) c.1572A>C (p.Ser524=) c.*205A>C (n.*205A>C) c.1821A>C (p.Ser607=) c.1581A>C (p.Ser527=) c.132A>C (p.Ser44=) n.1877A>C | gnomAD v4 |
| 4 | g.5628633T= | CA1435424979 | EVC2 | c.1812A= (p.Ser604=) c.1572A= (p.Ser524=) c.*205A= (n.*205A=) c.1821A= (p.Ser607=) c.1581A= (p.Ser527=) c.132A= (p.Ser44=) n.1877A= | |
| 4 | g.5628634G>A | CA356147647 | EVC2 | c.1811C>T (p.Ser604Leu) c.1571C>T (p.Ser524Leu) c.*204C>T (n.*204C>T) c.1820C>T (p.Ser607Leu) c.1580C>T (p.Ser527Leu) c.131C>T (p.Ser44Leu) n.1876C>T | ClinVar gnomAD v4 |
| 4 | g.5628634G>C | CA356147649 | EVC2 | c.1811C>G (p.Ser604Ter) c.1571C>G (p.Ser524Ter) c.*204C>G (n.*204C>G) c.1820C>G (p.Ser607Ter) c.1580C>G (p.Ser527Ter) c.131C>G (p.Ser44Ter) n.1876C>G | |
| 4 | g.5628634G>T | CA356147650 | EVC2 | c.1811C>A (p.Ser604Ter) c.1571C>A (p.Ser524Ter) c.*204C>A (n.*204C>A) c.1820C>A (p.Ser607Ter) c.1580C>A (p.Ser527Ter) c.131C>A (p.Ser44Ter) n.1876C>A | |
| 4 | g.5628635A>C | CA356147654 | EVC2 | c.1810T>G (p.Ser604Ala) c.1570T>G (p.Ser524Ala) c.*203T>G (n.*203T>G) c.1819T>G (p.Ser607Ala) c.1579T>G (p.Ser527Ala) c.130T>G (p.Ser44Ala) n.1875T>G | |
| 4 | g.5628635A>G | CA356147655 | EVC2 | c.1810T>C (p.Ser604Pro) c.1570T>C (p.Ser524Pro) c.*203T>C (n.*203T>C) c.1819T>C (p.Ser607Pro) c.1579T>C (p.Ser527Pro) c.130T>C (p.Ser44Pro) n.1875T>C | |
| 4 | g.5628635A>T | CA356147652 | EVC2 | c.1810T>A (p.Ser604Thr) c.1570T>A (p.Ser524Thr) c.*203T>A (n.*203T>A) c.1819T>A (p.Ser607Thr) c.1579T>A (p.Ser527Thr) c.130T>A (p.Ser44Thr) n.1875T>A | |
| 4 | g.5628636C>A | CA356147656 | EVC2 | c.1809G>T (p.Gln603His) c.1569G>T (p.Gln523His) c.*202G>T (n.*202G>T) c.1818G>T (p.Gln606His) c.1578G>T (p.Gln526His) c.129G>T (p.Gln43His) n.1874G>T | |
| 4 | g.5628636C>G | CA356147657 | EVC2 | c.1809G>C (p.Gln603His) c.1569G>C (p.Gln523His) c.*202G>C (n.*202G>C) c.1818G>C (p.Gln606His) c.1578G>C (p.Gln526His) c.129G>C (p.Gln43His) n.1874G>C | gnomAD v4 |
| 4 | g.5628636C>T | CA438205094 | EVC2 | c.1809G>A (p.Gln603=) c.1569G>A (p.Gln523=) c.*202G>A (n.*202G>A) c.1818G>A (p.Gln606=) c.1578G>A (p.Gln526=) c.129G>A (p.Gln43=) n.1874G>A | |
| 4 | g.5628637T>A | CA356147658 | EVC2 | c.1808A>T (p.Gln603Leu) c.1568A>T (p.Gln523Leu) c.*201A>T (n.*201A>T) c.1817A>T (p.Gln606Leu) c.1577A>T (p.Gln526Leu) c.128A>T (p.Gln43Leu) n.1873A>T | |
| 4 | g.5628637T>C | CA356147659 | EVC2 | c.1808A>G (p.Gln603Arg) c.1568A>G (p.Gln523Arg) c.*201A>G (n.*201A>G) c.1817A>G (p.Gln606Arg) c.1577A>G (p.Gln526Arg) c.128A>G (p.Gln43Arg) n.1873A>G | |
| 4 | g.5628637T>G | CA2834931 | EVC2 | c.1808A>C (p.Gln603Pro) c.1568A>C (p.Gln523Pro) c.*201A>C (n.*201A>C) c.1817A>C (p.Gln606Pro) c.1577A>C (p.Gln526Pro) c.128A>C (p.Gln43Pro) n.1873A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5628637T= | CA1435424981 | EVC2 | c.1808A= (p.Gln603=) c.1568A= (p.Gln523=) c.*201A= (n.*201A=) c.1817A= (p.Gln606=) c.1577A= (p.Gln526=) c.128A= (p.Gln43=) n.1873A= | |
| 4 | g.5628637_5628638del | CA2740091125 | EVC2 | c.1807_1808del (p.Gln603ValfsTer?) c.1567_1568del (p.Gln523ValfsTer?) c.*200_*201del (n.*200_*201del) c.1816_1817del (p.Gln606ValfsTer?) c.1576_1577del (p.Gln526ValfsTer?) c.127_128del (p.Gln43ValfsTer?) n.1872_1873del | ClinVar |
| 4 | g.5628638G>A | CA356147660 | EVC2 | c.1807C>T (p.Gln603Ter) c.1567C>T (p.Gln523Ter) c.*200C>T (n.*200C>T) c.1816C>T (p.Gln606Ter) c.1576C>T (p.Gln526Ter) c.127C>T (p.Gln43Ter) n.1872C>T | |
| 4 | g.5628638G>C | CA356147661 | EVC2 | c.1807C>G (p.Gln603Glu) c.1567C>G (p.Gln523Glu) c.*200C>G (n.*200C>G) c.1816C>G (p.Gln606Glu) c.1576C>G (p.Gln526Glu) c.127C>G (p.Gln43Glu) n.1872C>G | |
| 4 | g.5628638G>T | CA356147662 | EVC2 | c.1807C>A (p.Gln603Lys) c.1567C>A (p.Gln523Lys) c.*200C>A (n.*200C>A) c.1816C>A (p.Gln606Lys) c.1576C>A (p.Gln526Lys) c.127C>A (p.Gln43Lys) n.1872C>A | |
| 4 | g.5628639G>A | CA438205104 | EVC2 | c.1806C>T (p.Leu602=) c.1566C>T (p.Leu522=) c.*199C>T (n.*199C>T) c.1815C>T (p.Leu605=) c.1575C>T (p.Leu525=) c.126C>T (p.Leu42=) n.1871C>T | ClinVar gnomAD v4 |
| 4 | g.5628639G>C | CA438205105 | EVC2 | c.1806C>G (p.Leu602=) c.1566C>G (p.Leu522=) c.*199C>G (n.*199C>G) c.1815C>G (p.Leu605=) c.1575C>G (p.Leu525=) c.126C>G (p.Leu42=) n.1871C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.5628639G= | CA1435424987 | EVC2 | c.1806C= (p.Leu602=) c.1566C= (p.Leu522=) c.*199C= (n.*199C=) c.1815C= (p.Leu605=) c.1575C= (p.Leu525=) c.126C= (p.Leu42=) n.1871C= | |
| 4 | g.5628639G>T | CA438205107 | EVC2 | c.1806C>A (p.Leu602=) c.1566C>A (p.Leu522=) c.*199C>A (n.*199C>A) c.1815C>A (p.Leu605=) c.1575C>A (p.Leu525=) c.126C>A (p.Leu42=) n.1871C>A | dbSNP |
| 4 | g.5628640A>C | CA356147663 | EVC2 | c.1805T>G (p.Leu602Arg) c.1565T>G (p.Leu522Arg) c.*198T>G (n.*198T>G) c.1814T>G (p.Leu605Arg) c.1574T>G (p.Leu525Arg) c.125T>G (p.Leu42Arg) n.1870T>G | |
| 4 | g.5628640A>G | CA356147664 | EVC2 | c.1805T>C (p.Leu602Pro) c.1565T>C (p.Leu522Pro) c.*198T>C (n.*198T>C) c.1814T>C (p.Leu605Pro) c.1574T>C (p.Leu525Pro) c.125T>C (p.Leu42Pro) n.1870T>C | |
| 4 | g.5628640A>T | CA356147665 | EVC2 | c.1805T>A (p.Leu602His) c.1565T>A (p.Leu522His) c.*198T>A (n.*198T>A) c.1814T>A (p.Leu605His) c.1574T>A (p.Leu525His) c.125T>A (p.Leu42His) n.1870T>A | |
| 4 | g.5628641G>A | CA356147667 | EVC2 | c.1804C>T (p.Leu602Phe) c.1564C>T (p.Leu522Phe) c.*197C>T (n.*197C>T) c.1813C>T (p.Leu605Phe) c.1573C>T (p.Leu525Phe) c.124C>T (p.Leu42Phe) n.1869C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5628641G>C | CA356147668 | EVC2 | c.1804C>G (p.Leu602Val) c.1564C>G (p.Leu522Val) c.*197C>G (n.*197C>G) c.1813C>G (p.Leu605Val) c.1573C>G (p.Leu525Val) c.124C>G (p.Leu42Val) n.1869C>G | |
| 4 | g.5628641G= | CA1435424995 | EVC2 | c.1804C= (p.Leu602=) c.1564C= (p.Leu522=) c.*197C= (n.*197C=) c.1813C= (p.Leu605=) c.1573C= (p.Leu525=) c.124C= (p.Leu42=) n.1869C= | |
| 4 | g.5628641G>T | CA2834932 | EVC2 | c.1804C>A (p.Leu602Ile) c.1564C>A (p.Leu522Ile) c.*197C>A (n.*197C>A) c.1813C>A (p.Leu605Ile) c.1573C>A (p.Leu525Ile) c.124C>A (p.Leu42Ile) n.1869C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5628642G>A | CA438205115 | EVC2 | c.1803C>T (p.Asn601=) c.1563C>T (p.Asn521=) c.*196C>T (n.*196C>T) c.1812C>T (p.Asn604=) c.1572C>T (p.Asn524=) c.123C>T (p.Asn41=) n.1868C>T | |
| 4 | g.5628642G>C | CA356147669 | EVC2 | c.1803C>G (p.Asn601Lys) c.1563C>G (p.Asn521Lys) c.*196C>G (n.*196C>G) c.1812C>G (p.Asn604Lys) c.1572C>G (p.Asn524Lys) c.123C>G (p.Asn41Lys) n.1868C>G | |
| 4 | g.5628642G= | CA1435424999 | EVC2 | c.1803C= (p.Asn601=) c.1563C= (p.Asn521=) c.*196C= (n.*196C=) c.1812C= (p.Asn604=) c.1572C= (p.Asn524=) c.123C= (p.Asn41=) n.1868C= | |
| 4 | g.5628642G>T | CA91712378 | EVC2 | c.1803C>A (p.Asn601Lys) c.1563C>A (p.Asn521Lys) c.*196C>A (n.*196C>A) c.1812C>A (p.Asn604Lys) c.1572C>A (p.Asn524Lys) c.123C>A (p.Asn41Lys) n.1868C>A | dbSNP gnomAD v4 |
| 4 | g.5628643T>A | CA356147671 | EVC2 | c.1802A>T (p.Asn601Ile) c.1562A>T (p.Asn521Ile) c.*195A>T (n.*195A>T) c.1811A>T (p.Asn604Ile) c.1571A>T (p.Asn524Ile) c.122A>T (p.Asn41Ile) n.1867A>T | |
| 4 | g.5628643T>C | CA2834933 | EVC2 | c.1802A>G (p.Asn601Ser) c.1562A>G (p.Asn521Ser) c.*195A>G (n.*195A>G) c.1811A>G (p.Asn604Ser) c.1571A>G (p.Asn524Ser) c.122A>G (p.Asn41Ser) n.1867A>G | ClinVar dbSNP ExAC gnomAD v2 |
| 4 | g.5628643T>G | CA356147673 | EVC2 | c.1802A>C (p.Asn601Thr) c.1562A>C (p.Asn521Thr) c.*195A>C (n.*195A>C) c.1811A>C (p.Asn604Thr) c.1571A>C (p.Asn524Thr) c.122A>C (p.Asn41Thr) n.1867A>C | |
| 4 | g.5628643T= | CA1435425001 | EVC2 | c.1802A= (p.Asn601=) c.1562A= (p.Asn521=) c.*195A= (n.*195A=) c.1811A= (p.Asn604=) c.1571A= (p.Asn524=) c.122A= (p.Asn41=) n.1867A= | |
| 4 | g.5628644T>A | CA356147674 | EVC2 | c.1801A>T (p.Asn601Tyr) c.1561A>T (p.Asn521Tyr) c.*194A>T (n.*194A>T) c.1810A>T (p.Asn604Tyr) c.1570A>T (p.Asn524Tyr) c.121A>T (p.Asn41Tyr) n.1866A>T | |
| 4 | g.5628644T>C | CA356147676 | EVC2 | c.1801A>G (p.Asn601Asp) c.1561A>G (p.Asn521Asp) c.*194A>G (n.*194A>G) c.1810A>G (p.Asn604Asp) c.1570A>G (p.Asn524Asp) c.121A>G (p.Asn41Asp) n.1866A>G | |
| 4 | g.5628644T>G | CA356147677 | EVC2 | c.1801A>C (p.Asn601His) c.1561A>C (p.Asn521His) c.*194A>C (n.*194A>C) c.1810A>C (p.Asn604His) c.1570A>C (p.Asn524His) c.121A>C (p.Asn41His) n.1866A>C | |
| 4 | g.5628645C>A | CA356147679 | EVC2 | c.1800G>T (p.Gln600His) c.1560G>T (p.Gln520His) c.*193G>T (n.*193G>T) c.1809G>T (p.Gln603His) c.1569G>T (p.Gln523His) c.120G>T (p.Gln40His) n.1865G>T | |
| 4 | g.5628645C>G | CA356147680 | EVC2 | c.1800G>C (p.Gln600His) c.1560G>C (p.Gln520His) c.*193G>C (n.*193G>C) c.1809G>C (p.Gln603His) c.1569G>C (p.Gln523His) c.120G>C (p.Gln40His) n.1865G>C | gnomAD v4 |
| 4 | g.5628645C>T | CA438205117 | EVC2 | c.1800G>A (p.Gln600=) c.1560G>A (p.Gln520=) c.*193G>A (n.*193G>A) c.1809G>A (p.Gln603=) c.1569G>A (p.Gln523=) c.120G>A (p.Gln40=) n.1865G>A | |
| 4 | g.5628646T>A | CA356147681 | EVC2 | c.1799A>T (p.Gln600Leu) c.1559A>T (p.Gln520Leu) c.*192A>T (n.*192A>T) c.1808A>T (p.Gln603Leu) c.1568A>T (p.Gln523Leu) c.119A>T (p.Gln40Leu) n.1864A>T | |
| 4 | g.5628646T>C | CA356147682 | EVC2 | c.1799A>G (p.Gln600Arg) c.1559A>G (p.Gln520Arg) c.*192A>G (n.*192A>G) c.1808A>G (p.Gln603Arg) c.1568A>G (p.Gln523Arg) c.119A>G (p.Gln40Arg) n.1864A>G | |
| 4 | g.5628646T>G | CA356147684 | EVC2 | c.1799A>C (p.Gln600Pro) c.1559A>C (p.Gln520Pro) c.*192A>C (n.*192A>C) c.1808A>C (p.Gln603Pro) c.1568A>C (p.Gln523Pro) c.119A>C (p.Gln40Pro) n.1864A>C | |
| 4 | g.5628647G>A | CA356147687 | EVC2 | c.1798C>T (p.Gln600Ter) c.1558C>T (p.Gln520Ter) c.*191C>T (n.*191C>T) c.1807C>T (p.Gln603Ter) c.1567C>T (p.Gln523Ter) c.118C>T (p.Gln40Ter) n.1863C>T | |
| 4 | g.5628647G>C | CA356147688 | EVC2 | c.1798C>G (p.Gln600Glu) c.1558C>G (p.Gln520Glu) c.*191C>G (n.*191C>G) c.1807C>G (p.Gln603Glu) c.1567C>G (p.Gln523Glu) c.118C>G (p.Gln40Glu) n.1863C>G | |
| 4 | g.5628647G>T | CA356147685 | EVC2 | c.1798C>A (p.Gln600Lys) c.1558C>A (p.Gln520Lys) c.*191C>A (n.*191C>A) c.1807C>A (p.Gln603Lys) c.1567C>A (p.Gln523Lys) c.118C>A (p.Gln40Lys) n.1863C>A | |
| 4 | g.5628648G>A | CA438205120 | EVC2 | c.1797C>T (p.Val599=) c.1557C>T (p.Val519=) c.*190C>T (n.*190C>T) c.1806C>T (p.Val602=) c.1566C>T (p.Val522=) c.117C>T (p.Val39=) n.1862C>T | ClinVar dbSNP |
| 4 | g.5628648G>C | CA438205121 | EVC2 | c.1797C>G (p.Val599=) c.1557C>G (p.Val519=) c.*190C>G (n.*190C>G) c.1806C>G (p.Val602=) c.1566C>G (p.Val522=) c.117C>G (p.Val39=) n.1862C>G | |
| 4 | g.5628648G>T | CA438205122 | EVC2 | c.1797C>A (p.Val599=) c.1557C>A (p.Val519=) c.*190C>A (n.*190C>A) c.1806C>A (p.Val602=) c.1566C>A (p.Val522=) c.117C>A (p.Val39=) n.1862C>A | |
| 4 | g.5628649A>C | CA356147690 | EVC2 | c.1796T>G (p.Val599Gly) c.1556T>G (p.Val519Gly) c.*189T>G (n.*189T>G) c.1805T>G (p.Val602Gly) c.1565T>G (p.Val522Gly) c.116T>G (p.Val39Gly) n.1861T>G | |
| 4 | g.5628649A>G | CA356147692 | EVC2 | c.1796T>C (p.Val599Ala) c.1556T>C (p.Val519Ala) c.*189T>C (n.*189T>C) c.1805T>C (p.Val602Ala) c.1565T>C (p.Val522Ala) c.116T>C (p.Val39Ala) n.1861T>C | |
| 4 | g.5628649A>T | CA356147693 | EVC2 | c.1796T>A (p.Val599Asp) c.1556T>A (p.Val519Asp) c.*189T>A (n.*189T>A) c.1805T>A (p.Val602Asp) c.1565T>A (p.Val522Asp) c.116T>A (p.Val39Asp) n.1861T>A | COSMIC COSMIC |
| 4 | g.5628650C>A | CA356147695 | EVC2 | c.1795G>T (p.Val599Phe) c.1555G>T (p.Val519Phe) c.*188G>T (n.*188G>T) c.1804G>T (p.Val602Phe) c.1564G>T (p.Val522Phe) c.115G>T (p.Val39Phe) n.1860G>T | |
| 4 | g.5628650C= | CA1435425005 | EVC2 | c.1795G= (p.Val599=) c.1555G= (p.Val519=) c.*188G= (n.*188G=) c.1804G= (p.Val602=) c.1564G= (p.Val522=) c.115G= (p.Val39=) n.1860G= | |
| 4 | g.5628650C>G | CA356147696 | EVC2 | c.1795G>C (p.Val599Leu) c.1555G>C (p.Val519Leu) c.*188G>C (n.*188G>C) c.1804G>C (p.Val602Leu) c.1564G>C (p.Val522Leu) c.115G>C (p.Val39Leu) n.1860G>C | |
| 4 | g.5628650C>T | CA2834934 | EVC2 | c.1795G>A (p.Val599Ile) c.1555G>A (p.Val519Ile) c.*188G>A (n.*188G>A) c.1804G>A (p.Val602Ile) c.1564G>A (p.Val522Ile) c.115G>A (p.Val39Ile) n.1860G>A | dbSNP ExAC |
| 4 | g.5628651C>A | CA438205123 | EVC2 | c.1794G>T (p.Leu598=) c.1554G>T (p.Leu518=) c.*187G>T (n.*187G>T) c.1803G>T (p.Leu601=) c.1563G>T (p.Leu521=) c.114G>T (p.Leu38=) n.1859G>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.5628651C= | CA1435425012 | EVC2 | c.1794G= (p.Leu598=) c.1554G= (p.Leu518=) c.*187G= (n.*187G=) c.1803G= (p.Leu601=) c.1563G= (p.Leu521=) c.114G= (p.Leu38=) n.1859G= | |
| 4 | g.5628651C>G | CA438205124 | EVC2 | c.1794G>C (p.Leu598=) c.1554G>C (p.Leu518=) c.*187G>C (n.*187G>C) c.1803G>C (p.Leu601=) c.1563G>C (p.Leu521=) c.114G>C (p.Leu38=) n.1859G>C | gnomAD v4 |
| 4 | g.5628651C>T | CA438205125 | EVC2 | c.1794G>A (p.Leu598=) c.1554G>A (p.Leu518=) c.*187G>A (n.*187G>A) c.1803G>A (p.Leu601=) c.1563G>A (p.Leu521=) c.114G>A (p.Leu38=) n.1859G>A | |
| 4 | g.5628651_5628657delinsCAGATAT | CA1435425011 | EVC2 | c.1788_1794delinsATATCTG (p.Glu596=) c.1548_1554delinsATATCTG (p.Glu516=) c.*181_*187delinsATATCTG (n.*181_*187delinsATATCTG) c.1797_1803delinsATATCTG (p.Glu599=) c.1557_1563delinsATATCTG (p.Glu519=) c.108_114delinsATATCTG (p.Glu36=) n.1853_1859delinsATATCTG | |
| 4 | g.5628652A>C | CA356147698 | EVC2 | c.1793T>G (p.Leu598Arg) c.1553T>G (p.Leu518Arg) c.*186T>G (n.*186T>G) c.1802T>G (p.Leu601Arg) c.1562T>G (p.Leu521Arg) c.113T>G (p.Leu38Arg) n.1858T>G | |
| 4 | g.5628652A>G | CA356147700 | EVC2 | c.1793T>C (p.Leu598Pro) c.1553T>C (p.Leu518Pro) c.*186T>C (n.*186T>C) c.1802T>C (p.Leu601Pro) c.1562T>C (p.Leu521Pro) c.113T>C (p.Leu38Pro) n.1858T>C | |
| 4 | g.5628652A>T | CA356147701 | EVC2 | c.1793T>A (p.Leu598Gln) c.1553T>A (p.Leu518Gln) c.*186T>A (n.*186T>A) c.1802T>A (p.Leu601Gln) c.1562T>A (p.Leu521Gln) c.113T>A (p.Leu38Gln) n.1858T>A | |
| 4 | g.5628652_5628657del | CA549707404 | EVC2 | c.1788_1793del (p.Tyr597_Leu598del) c.1548_1553del (p.Tyr517_Leu518del) c.*181_*186del (n.*181_*186del) c.1797_1802del (p.Tyr600_Leu601del) c.1557_1562del (p.Tyr520_Leu521del) c.108_113del (p.Tyr37_Leu38del) n.1853_1858del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5628653G>A | CA438205130 | EVC2 | c.1792C>T (p.Leu598=) c.1552C>T (p.Leu518=) c.*185C>T (n.*185C>T) c.1801C>T (p.Leu601=) c.1561C>T (p.Leu521=) c.112C>T (p.Leu38=) n.1857C>T | |
| 4 | g.5628653G>C | CA356147703 | EVC2 | c.1792C>G (p.Leu598Val) c.1552C>G (p.Leu518Val) c.*185C>G (n.*185C>G) c.1801C>G (p.Leu601Val) c.1561C>G (p.Leu521Val) c.112C>G (p.Leu38Val) n.1857C>G | gnomAD v4 |
| 4 | g.5628653G>T | CA356147705 | EVC2 | c.1792C>A (p.Leu598Met) c.1552C>A (p.Leu518Met) c.*185C>A (n.*185C>A) c.1801C>A (p.Leu601Met) c.1561C>A (p.Leu521Met) c.112C>A (p.Leu38Met) n.1857C>A | |
| 4 | g.5628654A= | CA1435425017 | EVC2 | c.1791T= (p.Tyr597=) c.1551T= (p.Tyr517=) c.*184T= (n.*184T=) c.1800T= (p.Tyr600=) c.1560T= (p.Tyr520=) c.111T= (p.Tyr37=) n.1856T= | |
| 4 | g.5628654A>C | CA356147706 | EVC2 | c.1791T>G (p.Tyr597Ter) c.1551T>G (p.Tyr517Ter) c.*184T>G (n.*184T>G) c.1800T>G (p.Tyr600Ter) c.1560T>G (p.Tyr520Ter) c.111T>G (p.Tyr37Ter) n.1856T>G | ClinVar dbSNP |
| 4 | g.5628654A>G | CA438205133 | EVC2 | c.1791T>C (p.Tyr597=) c.1551T>C (p.Tyr517=) c.*184T>C (n.*184T>C) c.1800T>C (p.Tyr600=) c.1560T>C (p.Tyr520=) c.111T>C (p.Tyr37=) n.1856T>C | ClinVar dbSNP |
| 4 | g.5628654A>T | CA356147707 | EVC2 | c.1791T>A (p.Tyr597Ter) c.1551T>A (p.Tyr517Ter) c.*184T>A (n.*184T>A) c.1800T>A (p.Tyr600Ter) c.1560T>A (p.Tyr520Ter) c.111T>A (p.Tyr37Ter) n.1856T>A | |
| 4 | g.5628655T>A | CA356147711 | EVC2 | c.1790A>T (p.Tyr597Phe) c.1550A>T (p.Tyr517Phe) c.*183A>T (n.*183A>T) c.1799A>T (p.Tyr600Phe) c.1559A>T (p.Tyr520Phe) c.110A>T (p.Tyr37Phe) n.1855A>T | |
| 4 | g.5628655T>C | CA356147709 | EVC2 | c.1790A>G (p.Tyr597Cys) c.1550A>G (p.Tyr517Cys) c.*183A>G (n.*183A>G) c.1799A>G (p.Tyr600Cys) c.1559A>G (p.Tyr520Cys) c.110A>G (p.Tyr37Cys) n.1855A>G | |
| 4 | g.5628655T>G | CA2834935 | EVC2 | c.1790A>C (p.Tyr597Ser) c.1550A>C (p.Tyr517Ser) c.*183A>C (n.*183A>C) c.1799A>C (p.Tyr600Ser) c.1559A>C (p.Tyr520Ser) c.110A>C (p.Tyr37Ser) n.1855A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5628655T= | CA1435425019 | EVC2 | c.1790A= (p.Tyr597=) c.1550A= (p.Tyr517=) c.*183A= (n.*183A=) c.1799A= (p.Tyr600=) c.1559A= (p.Tyr520=) c.110A= (p.Tyr37=) n.1855A= | |
| 4 | g.5628656A= | CA1435425023 | EVC2 | c.1789T= (p.Tyr597=) c.1549T= (p.Tyr517=) c.*182T= (n.*182T=) c.1798T= (p.Tyr600=) c.1558T= (p.Tyr520=) c.109T= (p.Tyr37=) n.1854T= | |
| 4 | g.5628656A>C | CA356147712 | EVC2 | c.1789T>G (p.Tyr597Asp) c.1549T>G (p.Tyr517Asp) c.*182T>G (n.*182T>G) c.1798T>G (p.Tyr600Asp) c.1558T>G (p.Tyr520Asp) c.109T>G (p.Tyr37Asp) n.1854T>G | |
| 4 | g.5628656A>G | CA356147713 | EVC2 | c.1789T>C (p.Tyr597His) c.1549T>C (p.Tyr517His) c.*182T>C (n.*182T>C) c.1798T>C (p.Tyr600His) c.1558T>C (p.Tyr520His) c.109T>C (p.Tyr37His) n.1854T>C | dbSNP |
| 4 | g.5628656A>T | CA356147714 | EVC2 | c.1789T>A (p.Tyr597Asn) c.1549T>A (p.Tyr517Asn) c.*182T>A (n.*182T>A) c.1798T>A (p.Tyr600Asn) c.1558T>A (p.Tyr520Asn) c.109T>A (p.Tyr37Asn) n.1854T>A | |
| 4 | g.5628657T>A | CA356147716 | EVC2 | c.1788A>T (p.Glu596Asp) c.1548A>T (p.Glu516Asp) c.*181A>T (n.*181A>T) c.1797A>T (p.Glu599Asp) c.1557A>T (p.Glu519Asp) c.108A>T (p.Glu36Asp) n.1853A>T | |
| 4 | g.5628657T>C | CA438205140 | EVC2 | c.1788A>G (p.Glu596=) c.1548A>G (p.Glu516=) c.*181A>G (n.*181A>G) c.1797A>G (p.Glu599=) c.1557A>G (p.Glu519=) c.108A>G (p.Glu36=) n.1853A>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.5628657T>G | CA356147718 | EVC2 | c.1788A>C (p.Glu596Asp) c.1548A>C (p.Glu516Asp) c.*181A>C (n.*181A>C) c.1797A>C (p.Glu599Asp) c.1557A>C (p.Glu519Asp) c.108A>C (p.Glu36Asp) n.1853A>C | |
| 4 | g.5628658T>A | CA356147719 | EVC2 | c.1787A>T (p.Glu596Val) c.1547A>T (p.Glu516Val) c.*180A>T (n.*180A>T) c.1796A>T (p.Glu599Val) c.1556A>T (p.Glu519Val) c.107A>T (p.Glu36Val) n.1852A>T | |
| 4 | g.5628658T>C | CA2834936 | EVC2 | c.1787A>G (p.Glu596Gly) c.1547A>G (p.Glu516Gly) c.*180A>G (n.*180A>G) c.1796A>G (p.Glu599Gly) c.1556A>G (p.Glu519Gly) c.107A>G (p.Glu36Gly) n.1852A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628658T>G | CA356147720 | EVC2 | c.1787A>C (p.Glu596Ala) c.1547A>C (p.Glu516Ala) c.*180A>C (n.*180A>C) c.1796A>C (p.Glu599Ala) c.1556A>C (p.Glu519Ala) c.107A>C (p.Glu36Ala) n.1852A>C | |
| 4 | g.5628658T= | CA1435425027 | EVC2 | c.1787A= (p.Glu596=) c.1547A= (p.Glu516=) c.*180A= (n.*180A=) c.1796A= (p.Glu599=) c.1556A= (p.Glu519=) c.107A= (p.Glu36=) n.1852A= | |
| 4 | g.5628659C>A | CA356147722 | EVC2 | c.1786G>T (p.Glu596Ter) c.1546G>T (p.Glu516Ter) c.*179G>T (n.*179G>T) c.1795G>T (p.Glu599Ter) c.1555G>T (p.Glu519Ter) c.106G>T (p.Glu36Ter) n.1851G>T | |
| 4 | g.5628659C>G | CA356147723 | EVC2 | c.1786G>C (p.Glu596Gln) c.1546G>C (p.Glu516Gln) c.*179G>C (n.*179G>C) c.1795G>C (p.Glu599Gln) c.1555G>C (p.Glu519Gln) c.106G>C (p.Glu36Gln) n.1851G>C | |
| 4 | g.5628659C>T | CA356147725 | EVC2 | c.1786G>A (p.Glu596Lys) c.1546G>A (p.Glu516Lys) c.*179G>A (n.*179G>A) c.1795G>A (p.Glu599Lys) c.1555G>A (p.Glu519Lys) c.106G>A (p.Glu36Lys) n.1851G>A | |
| 4 | g.5628660C>A | CA356147726 | EVC2 | c.1785G>T (p.Arg595Ser) c.1545G>T (p.Arg515Ser) c.*178G>T (n.*178G>T) c.1794G>T (p.Arg598Ser) c.1554G>T (p.Arg518Ser) c.105G>T (p.Arg35Ser) n.1850G>T | |
| 4 | g.5628660C= | CA1435425032 | EVC2 | c.1785G= (p.Arg595=) c.1545G= (p.Arg515=) c.*178G= (n.*178G=) c.1794G= (p.Arg598=) c.1554G= (p.Arg518=) c.105G= (p.Arg35=) n.1850G= | |
| 4 | g.5628660C>G | CA2834937 | EVC2 | c.1785G>C (p.Arg595Ser) c.1545G>C (p.Arg515Ser) c.*178G>C (n.*178G>C) c.1794G>C (p.Arg598Ser) c.1554G>C (p.Arg518Ser) c.105G>C (p.Arg35Ser) n.1850G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5628660C>T | CA438205149 | EVC2 | c.1785G>A (p.Arg595=) c.1545G>A (p.Arg515=) c.*178G>A (n.*178G>A) c.1794G>A (p.Arg598=) c.1554G>A (p.Arg518=) c.105G>A (p.Arg35=) n.1850G>A | |
| 4 | g.5628661C>A | CA356147730 | EVC2 | c.1784G>T (p.Arg595Met) c.1544G>T (p.Arg515Met) c.*177G>T (n.*177G>T) c.1793G>T (p.Arg598Met) c.1553G>T (p.Arg518Met) c.104G>T (p.Arg35Met) n.1849G>T | gnomAD v4 |
| 4 | g.5628661C>G | CA356147732 | EVC2 | c.1784G>C (p.Arg595Thr) c.1544G>C (p.Arg515Thr) c.*177G>C (n.*177G>C) c.1793G>C (p.Arg598Thr) c.1553G>C (p.Arg518Thr) c.104G>C (p.Arg35Thr) n.1849G>C | |
| 4 | g.5628661C>T | CA356147728 | EVC2 | c.1784G>A (p.Arg595Lys) c.1544G>A (p.Arg515Lys) c.*177G>A (n.*177G>A) c.1793G>A (p.Arg598Lys) c.1553G>A (p.Arg518Lys) c.104G>A (p.Arg35Lys) n.1849G>A | |
| 4 | g.5628662T>A | CA356147733 | EVC2 | c.1783A>T (p.Arg595Trp) c.1543A>T (p.Arg515Trp) c.*176A>T (n.*176A>T) c.1792A>T (p.Arg598Trp) c.1552A>T (p.Arg518Trp) c.103A>T (p.Arg35Trp) n.1848A>T | |
| 4 | g.5628662T>C | CA356147735 | EVC2 | c.1783A>G (p.Arg595Gly) c.1543A>G (p.Arg515Gly) c.*176A>G (n.*176A>G) c.1792A>G (p.Arg598Gly) c.1552A>G (p.Arg518Gly) c.103A>G (p.Arg35Gly) n.1848A>G | |
| 4 | g.5628662T>G | CA438205153 | EVC2 | c.1783A>C (p.Arg595=) c.1543A>C (p.Arg515=) c.*176A>C (n.*176A>C) c.1792A>C (p.Arg598=) c.1552A>C (p.Arg518=) c.103A>C (p.Arg35=) n.1848A>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5628662T= | CA1435425034 | EVC2 | c.1783A= (p.Arg595=) c.1543A= (p.Arg515=) c.*176A= (n.*176A=) c.1792A= (p.Arg598=) c.1552A= (p.Arg518=) c.103A= (p.Arg35=) n.1848A= | |
| 4 | g.5628663G>A | CA438205154 | EVC2 | c.1782C>T (p.His594=) c.1542C>T (p.His514=) c.*175C>T (n.*175C>T) c.1791C>T (p.His597=) c.1551C>T (p.His517=) c.102C>T (p.His34=) n.1847C>T | |
| 4 | g.5628663G>C | CA356147736 | EVC2 | c.1782C>G (p.His594Gln) c.1542C>G (p.His514Gln) c.*175C>G (n.*175C>G) c.1791C>G (p.His597Gln) c.1551C>G (p.His517Gln) c.102C>G (p.His34Gln) n.1847C>G | ClinVar dbSNP |
| 4 | g.5628663G= | CA1435425037 | EVC2 | c.1782C= (p.His594=) c.1542C= (p.His514=) c.*175C= (n.*175C=) c.1791C= (p.His597=) c.1551C= (p.His517=) c.102C= (p.His34=) n.1847C= | |
| 4 | g.5628663G>T | CA356147737 | EVC2 | c.1782C>A (p.His594Gln) c.1542C>A (p.His514Gln) c.*175C>A (n.*175C>A) c.1791C>A (p.His597Gln) c.1551C>A (p.His517Gln) c.102C>A (p.His34Gln) n.1847C>A | |
| 4 | g.5628664T>A | CA356147738 | EVC2 | c.1781A>T (p.His594Leu) c.1541A>T (p.His514Leu) c.*174A>T (n.*174A>T) c.1790A>T (p.His597Leu) c.1550A>T (p.His517Leu) c.101A>T (p.His34Leu) n.1846A>T | |
| 4 | g.5628664T>C | CA356147739 | EVC2 | c.1781A>G (p.His594Arg) c.1541A>G (p.His514Arg) c.*174A>G (n.*174A>G) c.1790A>G (p.His597Arg) c.1550A>G (p.His517Arg) c.101A>G (p.His34Arg) n.1846A>G | |
| 4 | g.5628664T>G | CA356147740 | EVC2 | c.1781A>C (p.His594Pro) c.1541A>C (p.His514Pro) c.*174A>C (n.*174A>C) c.1790A>C (p.His597Pro) c.1550A>C (p.His517Pro) c.101A>C (p.His34Pro) n.1846A>C | |
| 4 | g.5628665G>A | CA91712400 | EVC2 | c.1780C>T (p.His594Tyr) c.1540C>T (p.His514Tyr) c.*173C>T (n.*173C>T) c.1789C>T (p.His597Tyr) c.1549C>T (p.His517Tyr) c.100C>T (p.His34Tyr) n.1845C>T | dbSNP |
| 4 | g.5628665G>C | CA356147742 | EVC2 | c.1780C>G (p.His594Asp) c.1540C>G (p.His514Asp) c.*173C>G (n.*173C>G) c.1789C>G (p.His597Asp) c.1549C>G (p.His517Asp) c.100C>G (p.His34Asp) n.1845C>G | |
| 4 | g.5628665G= | CA1435425040 | EVC2 | c.1780C= (p.His594=) c.1540C= (p.His514=) c.*173C= (n.*173C=) c.1789C= (p.His597=) c.1549C= (p.His517=) c.100C= (p.His34=) n.1845C= | |
| 4 | g.5628665G>T | CA356147743 | EVC2 | c.1780C>A (p.His594Asn) c.1540C>A (p.His514Asn) c.*173C>A (n.*173C>A) c.1789C>A (p.His597Asn) c.1549C>A (p.His517Asn) c.100C>A (p.His34Asn) n.1845C>A | |
| 4 | g.5628666G>A | CA438205157 | EVC2 | c.1779C>T (p.Gly593=) c.1539C>T (p.Gly513=) c.*172C>T (n.*172C>T) c.1788C>T (p.Gly596=) c.1548C>T (p.Gly516=) c.99C>T (p.Gly33=) n.1844C>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5628666G>C | CA438205158 | EVC2 | c.1779C>G (p.Gly593=) c.1539C>G (p.Gly513=) c.*172C>G (n.*172C>G) c.1788C>G (p.Gly596=) c.1548C>G (p.Gly516=) c.99C>G (p.Gly33=) n.1844C>G | |
| 4 | g.5628666G= | CA1435425042 | EVC2 | c.1779C= (p.Gly593=) c.1539C= (p.Gly513=) c.*172C= (n.*172C=) c.1788C= (p.Gly596=) c.1548C= (p.Gly516=) c.99C= (p.Gly33=) n.1844C= | |
| 4 | g.5628666G>T | CA438205159 | EVC2 | c.1779C>A (p.Gly593=) c.1539C>A (p.Gly513=) c.*172C>A (n.*172C>A) c.1788C>A (p.Gly596=) c.1548C>A (p.Gly516=) c.99C>A (p.Gly33=) n.1844C>A | |
| 4 | g.5628667C>A | CA356147745 | EVC2 | c.1778G>T (p.Gly593Val) c.1538G>T (p.Gly513Val) c.*171G>T (n.*171G>T) c.1787G>T (p.Gly596Val) c.1547G>T (p.Gly516Val) c.98G>T (p.Gly33Val) n.1843G>T | |
| 4 | g.5628667C>G | CA356147747 | EVC2 | c.1778G>C (p.Gly593Ala) c.1538G>C (p.Gly513Ala) c.*171G>C (n.*171G>C) c.1787G>C (p.Gly596Ala) c.1547G>C (p.Gly516Ala) c.98G>C (p.Gly33Ala) n.1843G>C | |
| 4 | g.5628667C>T | CA356147748 | EVC2 | c.1778G>A (p.Gly593Asp) c.1538G>A (p.Gly513Asp) c.*171G>A (n.*171G>A) c.1787G>A (p.Gly596Asp) c.1547G>A (p.Gly516Asp) c.98G>A (p.Gly33Asp) n.1843G>A | |
| 4 | g.5628668C>A | CA356147750 | EVC2 | c.1777G>T (p.Gly593Cys) c.1537G>T (p.Gly513Cys) c.*170G>T (n.*170G>T) c.1786G>T (p.Gly596Cys) c.1546G>T (p.Gly516Cys) c.97G>T (p.Gly33Cys) n.1842G>T | |
| 4 | g.5628668C>G | CA356147751 | EVC2 | c.1777G>C (p.Gly593Arg) c.1537G>C (p.Gly513Arg) c.*170G>C (n.*170G>C) c.1786G>C (p.Gly596Arg) c.1546G>C (p.Gly516Arg) c.97G>C (p.Gly33Arg) n.1842G>C | |
| 4 | g.5628668C>T | CA356147753 | EVC2 | c.1777G>A (p.Gly593Ser) c.1537G>A (p.Gly513Ser) c.*170G>A (n.*170G>A) c.1786G>A (p.Gly596Ser) c.1546G>A (p.Gly516Ser) c.97G>A (p.Gly33Ser) n.1842G>A | |
| 4 | g.5628669A>C | CA356147755 | EVC2 | c.1776T>G (p.Phe592Leu) c.1536T>G (p.Phe512Leu) c.*169T>G (n.*169T>G) c.1785T>G (p.Phe595Leu) c.1545T>G (p.Phe515Leu) c.96T>G (p.Phe32Leu) n.1841T>G | |
| 4 | g.5628669A>G | CA438205165 | EVC2 | c.1776T>C (p.Phe592=) c.1536T>C (p.Phe512=) c.*169T>C (n.*169T>C) c.1785T>C (p.Phe595=) c.1545T>C (p.Phe515=) c.96T>C (p.Phe32=) n.1841T>C | |
| 4 | g.5628669A>T | CA356147757 | EVC2 | c.1776T>A (p.Phe592Leu) c.1536T>A (p.Phe512Leu) c.*169T>A (n.*169T>A) c.1785T>A (p.Phe595Leu) c.1545T>A (p.Phe515Leu) c.96T>A (p.Phe32Leu) n.1841T>A | |
| 4 | g.5628670A= | CA1435425044 | EVC2 | c.1775T= (p.Phe592=) c.1535T= (p.Phe512=) c.*168T= (n.*168T=) c.1784T= (p.Phe595=) c.1544T= (p.Phe515=) c.95T= (p.Phe32=) n.1840T= | |
| 4 | g.5628670A>C | CA2834938 | EVC2 | c.1775T>G (p.Phe592Cys) c.1535T>G (p.Phe512Cys) c.*168T>G (n.*168T>G) c.1784T>G (p.Phe595Cys) c.1544T>G (p.Phe515Cys) c.95T>G (p.Phe32Cys) n.1840T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5628670A>G | CA356147758 | EVC2 | c.1775T>C (p.Phe592Ser) c.1535T>C (p.Phe512Ser) c.*168T>C (n.*168T>C) c.1784T>C (p.Phe595Ser) c.1544T>C (p.Phe515Ser) c.95T>C (p.Phe32Ser) n.1840T>C | |
| 4 | g.5628670A>T | CA356147760 | EVC2 | c.1775T>A (p.Phe592Tyr) c.1535T>A (p.Phe512Tyr) c.*168T>A (n.*168T>A) c.1784T>A (p.Phe595Tyr) c.1544T>A (p.Phe515Tyr) c.95T>A (p.Phe32Tyr) n.1840T>A | |
| 4 | g.5628671A>C | CA356147762 | EVC2 | c.1774T>G (p.Phe592Val) c.1534T>G (p.Phe512Val) c.*167T>G (n.*167T>G) c.1783T>G (p.Phe595Val) c.1543T>G (p.Phe515Val) c.94T>G (p.Phe32Val) n.1839T>G | |
| 4 | g.5628671A>G | CA356147764 | EVC2 | c.1774T>C (p.Phe592Leu) c.1534T>C (p.Phe512Leu) c.*167T>C (n.*167T>C) c.1783T>C (p.Phe595Leu) c.1543T>C (p.Phe515Leu) c.94T>C (p.Phe32Leu) n.1839T>C | gnomAD v4 |
| 4 | g.5628671A>T | CA356147765 | EVC2 | c.1774T>A (p.Phe592Ile) c.1534T>A (p.Phe512Ile) c.*167T>A (n.*167T>A) c.1783T>A (p.Phe595Ile) c.1543T>A (p.Phe515Ile) c.94T>A (p.Phe32Ile) n.1839T>A | |
| 4 | g.5628672T>A | CA356147767 | EVC2 | c.1773A>T (p.Arg591Ser) c.1533A>T (p.Arg511Ser) c.*166A>T (n.*166A>T) c.1782A>T (p.Arg594Ser) c.1542A>T (p.Arg514Ser) c.93A>T (p.Arg31Ser) n.1838A>T | |
| 4 | g.5628672T>C | CA438205166 | EVC2 | c.1773A>G (p.Arg591=) c.1533A>G (p.Arg511=) c.*166A>G (n.*166A>G) c.1782A>G (p.Arg594=) c.1542A>G (p.Arg514=) c.93A>G (p.Arg31=) n.1838A>G | ClinVar |
| 4 | g.5628672T>G | CA356147769 | EVC2 | c.1773A>C (p.Arg591Ser) c.1533A>C (p.Arg511Ser) c.*166A>C (n.*166A>C) c.1782A>C (p.Arg594Ser) c.1542A>C (p.Arg514Ser) c.93A>C (p.Arg31Ser) n.1838A>C | |
| 4 | g.5628673C>A | CA356147771 | EVC2 | c.1772G>T (p.Arg591Ile) c.1532G>T (p.Arg511Ile) c.*165G>T (n.*165G>T) c.1781G>T (p.Arg594Ile) c.1541G>T (p.Arg514Ile) c.92G>T (p.Arg31Ile) n.1837G>T | COSMIC COSMIC |
| 4 | g.5628673C>G | CA356147772 | EVC2 | c.1772G>C (p.Arg591Thr) c.1532G>C (p.Arg511Thr) c.*165G>C (n.*165G>C) c.1781G>C (p.Arg594Thr) c.1541G>C (p.Arg514Thr) c.92G>C (p.Arg31Thr) n.1837G>C | |
| 4 | g.5628673C>T | CA356147774 | EVC2 | c.1772G>A (p.Arg591Lys) c.1532G>A (p.Arg511Lys) c.*165G>A (n.*165G>A) c.1781G>A (p.Arg594Lys) c.1541G>A (p.Arg514Lys) c.92G>A (p.Arg31Lys) n.1837G>A | |
| 4 | g.5628674T>A | CA356147776 | EVC2 | c.1771A>T (p.Arg591Ter) c.1531A>T (p.Arg511Ter) c.*164A>T (n.*164A>T) c.1780A>T (p.Arg594Ter) c.1540A>T (p.Arg514Ter) c.91A>T (p.Arg31Ter) n.1836A>T | |
| 4 | g.5628674T>C | CA356147778 | EVC2 | c.1771A>G (p.Arg591Gly) c.1531A>G (p.Arg511Gly) c.*164A>G (n.*164A>G) c.1780A>G (p.Arg594Gly) c.1540A>G (p.Arg514Gly) c.91A>G (p.Arg31Gly) n.1836A>G | |
| 4 | g.5628674T>G | CA438205171 | EVC2 | c.1771A>C (p.Arg591=) c.1531A>C (p.Arg511=) c.*164A>C (n.*164A>C) c.1780A>C (p.Arg594=) c.1540A>C (p.Arg514=) c.91A>C (p.Arg31=) n.1836A>C | ClinVar |
| 4 | g.5628675T>A | CA356147779 | EVC2 | c.1770A>T (p.Lys590Asn) c.1530A>T (p.Lys510Asn) c.*163A>T (n.*163A>T) c.1779A>T (p.Lys593Asn) c.1539A>T (p.Lys513Asn) c.90A>T (p.Lys30Asn) n.1835A>T | |
| 4 | g.5628675T>C | CA438205172 | EVC2 | c.1770A>G (p.Lys590=) c.1530A>G (p.Lys510=) c.*163A>G (n.*163A>G) c.1779A>G (p.Lys593=) c.1539A>G (p.Lys513=) c.90A>G (p.Lys30=) n.1835A>G | |
| 4 | g.5628675T>G | CA356147781 | EVC2 | c.1770A>C (p.Lys590Asn) c.1530A>C (p.Lys510Asn) c.*163A>C (n.*163A>C) c.1779A>C (p.Lys593Asn) c.1539A>C (p.Lys513Asn) c.90A>C (p.Lys30Asn) n.1835A>C | |
| 4 | g.5628676T>A | CA356147783 | EVC2 | c.1769A>T (p.Lys590Ile) c.1529A>T (p.Lys510Ile) c.*162A>T (n.*162A>T) c.1778A>T (p.Lys593Ile) c.1538A>T (p.Lys513Ile) c.89A>T (p.Lys30Ile) n.1834A>T | |
| 4 | g.5628676T>C | CA356147786 | EVC2 | c.1769A>G (p.Lys590Arg) c.1529A>G (p.Lys510Arg) c.*162A>G (n.*162A>G) c.1778A>G (p.Lys593Arg) c.1538A>G (p.Lys513Arg) c.89A>G (p.Lys30Arg) n.1834A>G | |
| 4 | g.5628676T>G | CA356147785 | EVC2 | c.1769A>C (p.Lys590Thr) c.1529A>C (p.Lys510Thr) c.*162A>C (n.*162A>C) c.1778A>C (p.Lys593Thr) c.1538A>C (p.Lys513Thr) c.89A>C (p.Lys30Thr) n.1834A>C | |
| 4 | g.5628677T>A | CA356147788 | EVC2 | c.1768A>T (p.Lys590Ter) c.1528A>T (p.Lys510Ter) c.*161A>T (n.*161A>T) c.1777A>T (p.Lys593Ter) c.1537A>T (p.Lys513Ter) c.88A>T (p.Lys30Ter) n.1833A>T | gnomAD v4 |
| 4 | g.5628677T>C | CA356147789 | EVC2 | c.1768A>G (p.Lys590Glu) c.1528A>G (p.Lys510Glu) c.*161A>G (n.*161A>G) c.1777A>G (p.Lys593Glu) c.1537A>G (p.Lys513Glu) c.88A>G (p.Lys30Glu) n.1833A>G | gnomAD v4 |
| 4 | g.5628677T>G | CA356147791 | EVC2 | c.1768A>C (p.Lys590Gln) c.1528A>C (p.Lys510Gln) c.*161A>C (n.*161A>C) c.1777A>C (p.Lys593Gln) c.1537A>C (p.Lys513Gln) c.88A>C (p.Lys30Gln) n.1833A>C | |
| 4 | g.5628678A>C | CA356147792 | EVC2 | c.1767T>G (p.Ser589Arg) c.1527T>G (p.Ser509Arg) c.*160T>G (n.*160T>G) c.1776T>G (p.Ser592Arg) c.1536T>G (p.Ser512Arg) c.87T>G (p.Ser29Arg) n.1832T>G | |
| 4 | g.5628678A>G | CA438205176 | EVC2 | c.1767T>C (p.Ser589=) c.1527T>C (p.Ser509=) c.*160T>C (n.*160T>C) c.1776T>C (p.Ser592=) c.1536T>C (p.Ser512=) c.87T>C (p.Ser29=) n.1832T>C | ClinVar dbSNP |
| 4 | g.5628678A>T | CA356147793 | EVC2 | c.1767T>A (p.Ser589Arg) c.1527T>A (p.Ser509Arg) c.*160T>A (n.*160T>A) c.1776T>A (p.Ser592Arg) c.1536T>A (p.Ser512Arg) c.87T>A (p.Ser29Arg) n.1832T>A | |
| 4 | g.5628679C>A | CA356147795 | EVC2 | c.1766G>T (p.Ser589Ile) c.1526G>T (p.Ser509Ile) c.*159G>T (n.*159G>T) c.1775G>T (p.Ser592Ile) c.1535G>T (p.Ser512Ile) c.86G>T (p.Ser29Ile) n.1831G>T | |
| 4 | g.5628679C= | CA1435425046 | EVC2 | c.1766G= (p.Ser589=) c.1526G= (p.Ser509=) c.*159G= (n.*159G=) c.1775G= (p.Ser592=) c.1535G= (p.Ser512=) c.86G= (p.Ser29=) n.1831G= | |
| 4 | g.5628679C>G | CA2834939 | EVC2 | c.1766G>C (p.Ser589Thr) c.1526G>C (p.Ser509Thr) c.*159G>C (n.*159G>C) c.1775G>C (p.Ser592Thr) c.1535G>C (p.Ser512Thr) c.86G>C (p.Ser29Thr) n.1831G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5628679C>T | CA356147797 | EVC2 | c.1766G>A (p.Ser589Asn) c.1526G>A (p.Ser509Asn) c.*159G>A (n.*159G>A) c.1775G>A (p.Ser592Asn) c.1535G>A (p.Ser512Asn) c.86G>A (p.Ser29Asn) n.1831G>A | gnomAD v4 |
| 4 | g.5628680T>A | CA356147799 | EVC2 | c.1765A>T (p.Ser589Cys) c.1525A>T (p.Ser509Cys) c.*158A>T (n.*158A>T) c.1774A>T (p.Ser592Cys) c.1534A>T (p.Ser512Cys) c.85A>T (p.Ser29Cys) n.1830A>T | |
| 4 | g.5628680T>C | CA356147800 | EVC2 | c.1765A>G (p.Ser589Gly) c.1525A>G (p.Ser509Gly) c.*158A>G (n.*158A>G) c.1774A>G (p.Ser592Gly) c.1534A>G (p.Ser512Gly) c.85A>G (p.Ser29Gly) n.1830A>G | |
| 4 | g.5628680T>G | CA356147802 | EVC2 | c.1765A>C (p.Ser589Arg) c.1525A>C (p.Ser509Arg) c.*158A>C (n.*158A>C) c.1774A>C (p.Ser592Arg) c.1534A>C (p.Ser512Arg) c.85A>C (p.Ser29Arg) n.1830A>C | |
| 4 | g.5628681T>A | CA438205177 | EVC2 | c.1764A>T (p.Leu588=) c.1524A>T (p.Leu508=) c.*157A>T (n.*157A>T) c.1773A>T (p.Leu591=) c.1533A>T (p.Leu511=) c.84A>T (p.Leu28=) n.1829A>T | |
| 4 | g.5628681T>C | CA438205178 | EVC2 | c.1764A>G (p.Leu588=) c.1524A>G (p.Leu508=) c.*157A>G (n.*157A>G) c.1773A>G (p.Leu591=) c.1533A>G (p.Leu511=) c.84A>G (p.Leu28=) n.1829A>G | |
| 4 | g.5628681T>G | CA438205179 | EVC2 | c.1764A>C (p.Leu588=) c.1524A>C (p.Leu508=) c.*157A>C (n.*157A>C) c.1773A>C (p.Leu591=) c.1533A>C (p.Leu511=) c.84A>C (p.Leu28=) n.1829A>C | ClinVar |
| 4 | g.5628682A>C | CA356147807 | EVC2 | c.1763T>G (p.Leu588Arg) c.1523T>G (p.Leu508Arg) c.*156T>G (n.*156T>G) c.1772T>G (p.Leu591Arg) c.1532T>G (p.Leu511Arg) c.83T>G (p.Leu28Arg) n.1828T>G | |
| 4 | g.5628682A>G | CA356147805 | EVC2 | c.1763T>C (p.Leu588Pro) c.1523T>C (p.Leu508Pro) c.*156T>C (n.*156T>C) c.1772T>C (p.Leu591Pro) c.1532T>C (p.Leu511Pro) c.83T>C (p.Leu28Pro) n.1828T>C | |
| 4 | g.5628682A>T | CA356147804 | EVC2 | c.1763T>A (p.Leu588Gln) c.1523T>A (p.Leu508Gln) c.*156T>A (n.*156T>A) c.1772T>A (p.Leu591Gln) c.1532T>A (p.Leu511Gln) c.83T>A (p.Leu28Gln) n.1828T>A | |
| 4 | g.5628683G>A | CA438205181 | EVC2 | c.1762C>T (p.Leu588=) c.1522C>T (p.Leu508=) c.*155C>T (n.*155C>T) c.1771C>T (p.Leu591=) c.1531C>T (p.Leu511=) c.82C>T (p.Leu28=) n.1827C>T | ClinVar |
| 4 | g.5628683G>C | CA356147808 | EVC2 | c.1762C>G (p.Leu588Val) c.1522C>G (p.Leu508Val) c.*155C>G (n.*155C>G) c.1771C>G (p.Leu591Val) c.1531C>G (p.Leu511Val) c.82C>G (p.Leu28Val) n.1827C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628683G= | CA1435425049 | EVC2 | c.1762C= (p.Leu588=) c.1522C= (p.Leu508=) c.*155C= (n.*155C=) c.1771C= (p.Leu591=) c.1531C= (p.Leu511=) c.82C= (p.Leu28=) n.1827C= | |
| 4 | g.5628683G>T | CA356147810 | EVC2 | c.1762C>A (p.Leu588Ile) c.1522C>A (p.Leu508Ile) c.*155C>A (n.*155C>A) c.1771C>A (p.Leu591Ile) c.1531C>A (p.Leu511Ile) c.82C>A (p.Leu28Ile) n.1827C>A | |
| 4 | g.5628684A>C | CA356147812 | EVC2 | c.1761T>G (p.His587Gln) c.1521T>G (p.His507Gln) c.*154T>G (n.*154T>G) c.1770T>G (p.His590Gln) c.1530T>G (p.His510Gln) c.81T>G (p.His27Gln) n.1826T>G | |
| 4 | g.5628684A>G | CA438205184 | EVC2 | c.1761T>C (p.His587=) c.1521T>C (p.His507=) c.*154T>C (n.*154T>C) c.1770T>C (p.His590=) c.1530T>C (p.His510=) c.81T>C (p.His27=) n.1826T>C | |
| 4 | g.5628684A>T | CA356147813 | EVC2 | c.1761T>A (p.His587Gln) c.1521T>A (p.His507Gln) c.*154T>A (n.*154T>A) c.1770T>A (p.His590Gln) c.1530T>A (p.His510Gln) c.81T>A (p.His27Gln) n.1826T>A | |
| 4 | g.5628685T>A | CA356147815 | EVC2 | c.1760A>T (p.His587Leu) c.1520A>T (p.His507Leu) c.*153A>T (n.*153A>T) c.1769A>T (p.His590Leu) c.1529A>T (p.His510Leu) c.80A>T (p.His27Leu) n.1825A>T | |
| 4 | g.5628685T>C | CA356147817 | EVC2 | c.1760A>G (p.His587Arg) c.1520A>G (p.His507Arg) c.*153A>G (n.*153A>G) c.1769A>G (p.His590Arg) c.1529A>G (p.His510Arg) c.80A>G (p.His27Arg) n.1825A>G | dbSNP |
| 4 | g.5628685T>G | CA356147819 | EVC2 | c.1760A>C (p.His587Pro) c.1520A>C (p.His507Pro) c.*153A>C (n.*153A>C) c.1769A>C (p.His590Pro) c.1529A>C (p.His510Pro) c.80A>C (p.His27Pro) n.1825A>C | |
| 4 | g.5628685T= | CA1435425051 | EVC2 | c.1760A= (p.His587=) c.1520A= (p.His507=) c.*153A= (n.*153A=) c.1769A= (p.His590=) c.1529A= (p.His510=) c.80A= (p.His27=) n.1825A= | |
| 4 | g.5628686G>A | CA356147820 | EVC2 | c.1759C>T (p.His587Tyr) c.1519C>T (p.His507Tyr) c.*152C>T (n.*152C>T) c.1768C>T (p.His590Tyr) c.1528C>T (p.His510Tyr) c.79C>T (p.His27Tyr) n.1824C>T | |
| 4 | g.5628686G>C | CA356147821 | EVC2 | c.1759C>G (p.His587Asp) c.1519C>G (p.His507Asp) c.*152C>G (n.*152C>G) c.1768C>G (p.His590Asp) c.1528C>G (p.His510Asp) c.79C>G (p.His27Asp) n.1824C>G | |
| 4 | g.5628686G>T | CA356147822 | EVC2 | c.1759C>A (p.His587Asn) c.1519C>A (p.His507Asn) c.*152C>A (n.*152C>A) c.1768C>A (p.His590Asn) c.1528C>A (p.His510Asn) c.79C>A (p.His27Asn) n.1824C>A | |
| 4 | g.5628687A>C | CA356147823 | EVC2 | c.1758T>G (p.Tyr586Ter) c.1518T>G (p.Tyr506Ter) c.*151T>G (n.*151T>G) c.1767T>G (p.Tyr589Ter) c.1527T>G (p.Tyr509Ter) c.78T>G (p.Tyr26Ter) n.1823T>G | |
| 4 | g.5628687A>G | CA438205188 | EVC2 | c.1758T>C (p.Tyr586=) c.1518T>C (p.Tyr506=) c.*151T>C (n.*151T>C) c.1767T>C (p.Tyr589=) c.1527T>C (p.Tyr509=) c.78T>C (p.Tyr26=) n.1823T>C | |
| 4 | g.5628687A>T | CA356147824 | EVC2 | c.1758T>A (p.Tyr586Ter) c.1518T>A (p.Tyr506Ter) c.*151T>A (n.*151T>A) c.1767T>A (p.Tyr589Ter) c.1527T>A (p.Tyr509Ter) c.78T>A (p.Tyr26Ter) n.1823T>A | |
| 4 | g.5628688T>A | CA356147828 | EVC2 | c.1757A>T (p.Tyr586Phe) c.1517A>T (p.Tyr506Phe) c.*150A>T (n.*150A>T) c.1766A>T (p.Tyr589Phe) c.1526A>T (p.Tyr509Phe) c.77A>T (p.Tyr26Phe) n.1822A>T | |
| 4 | g.5628688T>C | CA356147825 | EVC2 | c.1757A>G (p.Tyr586Cys) c.1517A>G (p.Tyr506Cys) c.*150A>G (n.*150A>G) c.1766A>G (p.Tyr589Cys) c.1526A>G (p.Tyr509Cys) c.77A>G (p.Tyr26Cys) n.1822A>G | |
| 4 | g.5628688T>G | CA356147827 | EVC2 | c.1757A>C (p.Tyr586Ser) c.1517A>C (p.Tyr506Ser) c.*150A>C (n.*150A>C) c.1766A>C (p.Tyr589Ser) c.1526A>C (p.Tyr509Ser) c.77A>C (p.Tyr26Ser) n.1822A>C | |
| 4 | g.5628689A= | CA1435425053 | EVC2 | c.1756T= (p.Tyr586=) c.1516T= (p.Tyr506=) c.*149T= (n.*149T=) c.1765T= (p.Tyr589=) c.1525T= (p.Tyr509=) c.76T= (p.Tyr26=) n.1821T= | |
| 4 | g.5628689A>C | CA356147829 | EVC2 | c.1756T>G (p.Tyr586Asp) c.1516T>G (p.Tyr506Asp) c.*149T>G (n.*149T>G) c.1765T>G (p.Tyr589Asp) c.1525T>G (p.Tyr509Asp) c.76T>G (p.Tyr26Asp) n.1821T>G | |
| 4 | g.5628689A>G | CA356147833 | EVC2 | c.1756T>C (p.Tyr586His) c.1516T>C (p.Tyr506His) c.*149T>C (n.*149T>C) c.1765T>C (p.Tyr589His) c.1525T>C (p.Tyr509His) c.76T>C (p.Tyr26His) n.1821T>C | dbSNP gnomAD v4 |
| 4 | g.5628689A>T | CA356147831 | EVC2 | c.1756T>A (p.Tyr586Asn) c.1516T>A (p.Tyr506Asn) c.*149T>A (n.*149T>A) c.1765T>A (p.Tyr589Asn) c.1525T>A (p.Tyr509Asn) c.76T>A (p.Tyr26Asn) n.1821T>A | |
| 4 | g.5628690C>A | CA356147834 | EVC2 | c.1755G>T (p.Arg585Ser) c.1515G>T (p.Arg505Ser) c.*148G>T (n.*148G>T) c.1764G>T (p.Arg588Ser) c.1524G>T (p.Arg508Ser) c.75G>T (p.Arg25Ser) n.1820G>T | |
| 4 | g.5628690C= | CA1435425059 | EVC2 | c.1755G= (p.Arg585=) c.1515G= (p.Arg505=) c.*148G= (n.*148G=) c.1764G= (p.Arg588=) c.1524G= (p.Arg508=) c.75G= (p.Arg25=) n.1820G= | |
| 4 | g.5628690C>G | CA356147836 | EVC2 | c.1755G>C (p.Arg585Ser) c.1515G>C (p.Arg505Ser) c.*148G>C (n.*148G>C) c.1764G>C (p.Arg588Ser) c.1524G>C (p.Arg508Ser) c.75G>C (p.Arg25Ser) n.1820G>C | |
| 4 | g.5628690C>T | CA2834940 | EVC2 | c.1755G>A (p.Arg585=) c.1515G>A (p.Arg505=) c.*148G>A (n.*148G>A) c.1764G>A (p.Arg588=) c.1524G>A (p.Arg508=) c.75G>A (p.Arg25=) n.1820G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628691dup | CA2499217294 | EVC2 | c.1755dup (p.Tyr586ValfsTer5) c.1515dup (p.Tyr506ValfsTer5) c.*148dup (n.*148dup) c.1764dup (p.Tyr589ValfsTer5) c.1524dup (p.Tyr509ValfsTer5) c.75dup (p.Tyr26ValfsTer5) n.1820dup | ClinVar dbSNP |
| 4 | g.5628691C>A | CA356147838 | EVC2 | c.1754G>T (p.Arg585Met) c.1514G>T (p.Arg505Met) c.*147G>T (n.*147G>T) c.1763G>T (p.Arg588Met) c.1523G>T (p.Arg508Met) c.74G>T (p.Arg25Met) n.1819G>T | |
| 4 | g.5628691C= | CA1435425064 | EVC2 | c.1754G= (p.Arg585=) c.1514G= (p.Arg505=) c.*147G= (n.*147G=) c.1763G= (p.Arg588=) c.1523G= (p.Arg508=) c.74G= (p.Arg25=) n.1819G= | |
| 4 | g.5628691C>G | CA356147840 | EVC2 | c.1754G>C (p.Arg585Thr) c.1514G>C (p.Arg505Thr) c.*147G>C (n.*147G>C) c.1763G>C (p.Arg588Thr) c.1523G>C (p.Arg508Thr) c.74G>C (p.Arg25Thr) n.1819G>C | gnomAD v4 |
| 4 | g.5628691C>T | CA2834941 | EVC2 | c.1754G>A (p.Arg585Lys) c.1514G>A (p.Arg505Lys) c.*147G>A (n.*147G>A) c.1763G>A (p.Arg588Lys) c.1523G>A (p.Arg508Lys) c.74G>A (p.Arg25Lys) n.1819G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5628692del | CA2669801018 | EVC2 | c.1753del (p.Arg585GlyfsTer4) c.1513del (p.Arg505GlyfsTer4) c.*146del (n.*146del) c.1762del (p.Arg588GlyfsTer4) c.1522del (p.Arg508GlyfsTer4) c.73del (p.Arg25GlyfsTer4) n.1818del | gnomAD v4 |
| 4 | g.5628692T>A | CA2834942 | EVC2 | c.1753A>T (p.Arg585Trp) c.1513A>T (p.Arg505Trp) c.*146A>T (n.*146A>T) c.1762A>T (p.Arg588Trp) c.1522A>T (p.Arg508Trp) c.73A>T (p.Arg25Trp) n.1818A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628692T>C | CA356147843 | EVC2 | c.1753A>G (p.Arg585Gly) c.1513A>G (p.Arg505Gly) c.*146A>G (n.*146A>G) c.1762A>G (p.Arg588Gly) c.1522A>G (p.Arg508Gly) c.73A>G (p.Arg25Gly) n.1818A>G | |
| 4 | g.5628692T>G | CA438205191 | EVC2 | c.1753A>C (p.Arg585=) c.1513A>C (p.Arg505=) c.*146A>C (n.*146A>C) c.1762A>C (p.Arg588=) c.1522A>C (p.Arg508=) c.73A>C (p.Arg25=) n.1818A>C | |
| 4 | g.5628692T= | CA1435425068 | EVC2 | c.1753A= (p.Arg585=) c.1513A= (p.Arg505=) c.*146A= (n.*146A=) c.1762A= (p.Arg588=) c.1522A= (p.Arg508=) c.73A= (p.Arg25=) n.1818A= | |
| 4 | g.5628693C>A | CA356147846 | EVC2 | c.1752G>T (p.Lys584Asn) c.1512G>T (p.Lys504Asn) c.*145G>T (n.*145G>T) c.1761G>T (p.Lys587Asn) c.1521G>T (p.Lys507Asn) c.72G>T (p.Lys24Asn) n.1817G>T | |
| 4 | g.5628693C= | CA1435425072 | EVC2 | c.1752G= (p.Lys584=) c.1512G= (p.Lys504=) c.*145G= (n.*145G=) c.1761G= (p.Lys587=) c.1521G= (p.Lys507=) c.72G= (p.Lys24=) n.1817G= | |
| 4 | g.5628693C>G | CA356147847 | EVC2 | c.1752G>C (p.Lys584Asn) c.1512G>C (p.Lys504Asn) c.*145G>C (n.*145G>C) c.1761G>C (p.Lys587Asn) c.1521G>C (p.Lys507Asn) c.72G>C (p.Lys24Asn) n.1817G>C | |
| 4 | g.5628693C>T | CA2834943 | EVC2 | c.1752G>A (p.Lys584=) c.1512G>A (p.Lys504=) c.*145G>A (n.*145G>A) c.1761G>A (p.Lys587=) c.1521G>A (p.Lys507=) c.72G>A (p.Lys24=) n.1817G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5628694T>A | CA356147853 | EVC2 | c.1751A>T (p.Lys584Met) c.1511A>T (p.Lys504Met) c.*144A>T (n.*144A>T) c.1760A>T (p.Lys587Met) c.1520A>T (p.Lys507Met) c.71A>T (p.Lys24Met) n.1816A>T | |
| 4 | g.5628694T>C | CA356147849 | EVC2 | c.1751A>G (p.Lys584Arg) c.1511A>G (p.Lys504Arg) c.*144A>G (n.*144A>G) c.1760A>G (p.Lys587Arg) c.1520A>G (p.Lys507Arg) c.71A>G (p.Lys24Arg) n.1816A>G | |
| 4 | g.5628694T>G | CA356147851 | EVC2 | c.1751A>C (p.Lys584Thr) c.1511A>C (p.Lys504Thr) c.*144A>C (n.*144A>C) c.1760A>C (p.Lys587Thr) c.1520A>C (p.Lys507Thr) c.71A>C (p.Lys24Thr) n.1816A>C | |
| 4 | g.5628695T>A | CA356147854 | EVC2 | c.1750A>T (p.Lys584Ter) c.1510A>T (p.Lys504Ter) c.*143A>T (n.*143A>T) c.1759A>T (p.Lys587Ter) c.1519A>T (p.Lys507Ter) c.70A>T (p.Lys24Ter) n.1815A>T | |
| 4 | g.5628695T>C | CA2834944 | EVC2 | c.1750A>G (p.Lys584Glu) c.1510A>G (p.Lys504Glu) c.*143A>G (n.*143A>G) c.1759A>G (p.Lys587Glu) c.1519A>G (p.Lys507Glu) c.70A>G (p.Lys24Glu) n.1815A>G | dbSNP ExAC gnomAD v4 |
| 4 | g.5628695T>G | CA356147856 | EVC2 | c.1750A>C (p.Lys584Gln) c.1510A>C (p.Lys504Gln) c.*143A>C (n.*143A>C) c.1759A>C (p.Lys587Gln) c.1519A>C (p.Lys507Gln) c.70A>C (p.Lys24Gln) n.1815A>C | |
| 4 | g.5628695T= | CA1435425076 | EVC2 | c.1750A= (p.Lys584=) c.1510A= (p.Lys504=) c.*143A= (n.*143A=) c.1759A= (p.Lys587=) c.1519A= (p.Lys507=) c.70A= (p.Lys24=) n.1815A= | |
| 4 | g.5628696A>C | CA356147858 | EVC2 | c.1749T>G (p.Ser583Arg) c.1509T>G (p.Ser503Arg) c.*142T>G (n.*142T>G) c.1758T>G (p.Ser586Arg) c.1518T>G (p.Ser506Arg) c.69T>G (p.Ser23Arg) n.1814T>G | |
| 4 | g.5628696A>G | CA438205193 | EVC2 | c.1749T>C (p.Ser583=) c.1509T>C (p.Ser503=) c.*142T>C (n.*142T>C) c.1758T>C (p.Ser586=) c.1518T>C (p.Ser506=) c.69T>C (p.Ser23=) n.1814T>C | ClinVar |
| 4 | g.5628696A>T | CA356147861 | EVC2 | c.1749T>A (p.Ser583Arg) c.1509T>A (p.Ser503Arg) c.*142T>A (n.*142T>A) c.1758T>A (p.Ser586Arg) c.1518T>A (p.Ser506Arg) c.69T>A (p.Ser23Arg) n.1814T>A | |
| 4 | g.5628697C>A | CA356147863 | EVC2 | c.1748G>T (p.Ser583Ile) c.1508G>T (p.Ser503Ile) c.*141G>T (n.*141G>T) c.1757G>T (p.Ser586Ile) c.1517G>T (p.Ser506Ile) c.68G>T (p.Ser23Ile) n.1813G>T | gnomAD v4 |
| 4 | g.5628697C>G | CA356147865 | EVC2 | c.1748G>C (p.Ser583Thr) c.1508G>C (p.Ser503Thr) c.*141G>C (n.*141G>C) c.1757G>C (p.Ser586Thr) c.1517G>C (p.Ser506Thr) c.68G>C (p.Ser23Thr) n.1813G>C | |
| 4 | g.5628697C>T | CA356147866 | EVC2 | c.1748G>A (p.Ser583Asn) c.1508G>A (p.Ser503Asn) c.*141G>A (n.*141G>A) c.1757G>A (p.Ser586Asn) c.1517G>A (p.Ser506Asn) c.68G>A (p.Ser23Asn) n.1813G>A | |
| 4 | g.5628698T>A | CA356147867 | EVC2 | c.1747A>T (p.Ser583Cys) c.1507A>T (p.Ser503Cys) c.*140A>T (n.*140A>T) c.1756A>T (p.Ser586Cys) c.1516A>T (p.Ser506Cys) c.67A>T (p.Ser23Cys) n.1812A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628698T>C | CA356147868 | EVC2 | c.1747A>G (p.Ser583Gly) c.1507A>G (p.Ser503Gly) c.*140A>G (n.*140A>G) c.1756A>G (p.Ser586Gly) c.1516A>G (p.Ser506Gly) c.67A>G (p.Ser23Gly) n.1812A>G | |
| 4 | g.5628698T>G | CA356147869 | EVC2 | c.1747A>C (p.Ser583Arg) c.1507A>C (p.Ser503Arg) c.*140A>C (n.*140A>C) c.1756A>C (p.Ser586Arg) c.1516A>C (p.Ser506Arg) c.67A>C (p.Ser23Arg) n.1812A>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5628698T= | CA1435425079 | EVC2 | c.1747A= (p.Ser583=) c.1507A= (p.Ser503=) c.*140A= (n.*140A=) c.1756A= (p.Ser586=) c.1516A= (p.Ser506=) c.67A= (p.Ser23=) n.1812A= | |
| 4 | g.5628699A>C | CA438205198 | EVC2 | c.1746T>G (p.Ala582=) c.1506T>G (p.Ala502=) c.*139T>G (n.*139T>G) c.1755T>G (p.Ala585=) c.1515T>G (p.Ala505=) c.66T>G (p.Ala22=) n.1811T>G | |
| 4 | g.5628699A>G | CA438205199 | EVC2 | c.1746T>C (p.Ala582=) c.1506T>C (p.Ala502=) c.*139T>C (n.*139T>C) c.1755T>C (p.Ala585=) c.1515T>C (p.Ala505=) c.66T>C (p.Ala22=) n.1811T>C | |
| 4 | g.5628699A>T | CA438205200 | EVC2 | c.1746T>A (p.Ala582=) c.1506T>A (p.Ala502=) c.*139T>A (n.*139T>A) c.1755T>A (p.Ala585=) c.1515T>A (p.Ala505=) c.66T>A (p.Ala22=) n.1811T>A | |
| 4 | g.5628700G>A | CA356147872 | EVC2 | c.1745C>T (p.Ala582Val) c.1505C>T (p.Ala502Val) c.*138C>T (n.*138C>T) c.1754C>T (p.Ala585Val) c.1514C>T (p.Ala505Val) c.65C>T (p.Ala22Val) n.1810C>T | dbSNP gnomAD v4 |
| 4 | g.5628700G>C | CA356147871 | EVC2 | c.1745C>G (p.Ala582Gly) c.1505C>G (p.Ala502Gly) c.*138C>G (n.*138C>G) c.1754C>G (p.Ala585Gly) c.1514C>G (p.Ala505Gly) c.65C>G (p.Ala22Gly) n.1810C>G | |
| 4 | g.5628700G= | CA1435425083 | EVC2 | c.1745C= (p.Ala582=) c.1505C= (p.Ala502=) c.*138C= (n.*138C=) c.1754C= (p.Ala585=) c.1514C= (p.Ala505=) c.65C= (p.Ala22=) n.1810C= | |
| 4 | g.5628700G>T | CA356147870 | EVC2 | c.1745C>A (p.Ala582Asp) c.1505C>A (p.Ala502Asp) c.*138C>A (n.*138C>A) c.1754C>A (p.Ala585Asp) c.1514C>A (p.Ala505Asp) c.65C>A (p.Ala22Asp) n.1810C>A | |
| 4 | g.5628701C>A | CA356147875 | EVC2 | c.1744G>T (p.Ala582Ser) c.1504G>T (p.Ala502Ser) c.*137G>T (n.*137G>T) c.1753G>T (p.Ala585Ser) c.1513G>T (p.Ala505Ser) c.64G>T (p.Ala22Ser) n.1809G>T | dbSNP gnomAD v2 |
| 4 | g.5628701C= | CA1435425085 | EVC2 | c.1744G= (p.Ala582=) c.1504G= (p.Ala502=) c.*137G= (n.*137G=) c.1753G= (p.Ala585=) c.1513G= (p.Ala505=) c.64G= (p.Ala22=) n.1809G= | |
| 4 | g.5628701C>G | CA356147873 | EVC2 | c.1744G>C (p.Ala582Pro) c.1504G>C (p.Ala502Pro) c.*137G>C (n.*137G>C) c.1753G>C (p.Ala585Pro) c.1513G>C (p.Ala505Pro) c.64G>C (p.Ala22Pro) n.1809G>C | |
| 4 | g.5628701C>T | CA356147874 | EVC2 | c.1744G>A (p.Ala582Thr) c.1504G>A (p.Ala502Thr) c.*137G>A (n.*137G>A) c.1753G>A (p.Ala585Thr) c.1513G>A (p.Ala505Thr) c.64G>A (p.Ala22Thr) n.1809G>A | |
| 4 | g.5628702C>A | CA356147876 | EVC2 | c.1743G>T (p.Gln581His) c.1503G>T (p.Gln501His) c.*136G>T (n.*136G>T) c.1752G>T (p.Gln584His) c.1512G>T (p.Gln504His) c.63G>T (p.Gln21His) n.1808G>T | |
| 4 | g.5628702C>G | CA356147877 | EVC2 | c.1743G>C (p.Gln581His) c.1503G>C (p.Gln501His) c.*136G>C (n.*136G>C) c.1752G>C (p.Gln584His) c.1512G>C (p.Gln504His) c.63G>C (p.Gln21His) n.1808G>C | |
| 4 | g.5628702C>T | CA438205204 | EVC2 | c.1743G>A (p.Gln581=) c.1503G>A (p.Gln501=) c.*136G>A (n.*136G>A) c.1752G>A (p.Gln584=) c.1512G>A (p.Gln504=) c.63G>A (p.Gln21=) n.1808G>A | gnomAD v4 |
| 4 | g.5628703T>A | CA356147878 | EVC2 | c.1742A>T (p.Gln581Leu) c.1502A>T (p.Gln501Leu) c.*135A>T (n.*135A>T) c.1751A>T (p.Gln584Leu) c.1511A>T (p.Gln504Leu) c.62A>T (p.Gln21Leu) n.1807A>T | |
| 4 | g.5628703T>C | CA356147879 | EVC2 | c.1742A>G (p.Gln581Arg) c.1502A>G (p.Gln501Arg) c.*135A>G (n.*135A>G) c.1751A>G (p.Gln584Arg) c.1511A>G (p.Gln504Arg) c.62A>G (p.Gln21Arg) n.1807A>G | dbSNP |
| 4 | g.5628703T>G | CA356147880 | EVC2 | c.1742A>C (p.Gln581Pro) c.1502A>C (p.Gln501Pro) c.*135A>C (n.*135A>C) c.1751A>C (p.Gln584Pro) c.1511A>C (p.Gln504Pro) c.62A>C (p.Gln21Pro) n.1807A>C | |
| 4 | g.5628703T= | CA1435425087 | EVC2 | c.1742A= (p.Gln581=) c.1502A= (p.Gln501=) c.*135A= (n.*135A=) c.1751A= (p.Gln584=) c.1511A= (p.Gln504=) c.62A= (p.Gln21=) n.1807A= | |
| 4 | g.5628704G>A | CA356147881 | EVC2 | c.1741C>T (p.Gln581Ter) c.1501C>T (p.Gln501Ter) c.*134C>T (n.*134C>T) c.1750C>T (p.Gln584Ter) c.1510C>T (p.Gln504Ter) c.61C>T (p.Gln21Ter) n.1806C>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5628704G>C | CA356147882 | EVC2 | c.1741C>G (p.Gln581Glu) c.1501C>G (p.Gln501Glu) c.*134C>G (n.*134C>G) c.1750C>G (p.Gln584Glu) c.1510C>G (p.Gln504Glu) c.61C>G (p.Gln21Glu) n.1806C>G | gnomAD v4 |
| 4 | g.5628704G= | CA1435425090 | EVC2 | c.1741C= (p.Gln581=) c.1501C= (p.Gln501=) c.*134C= (n.*134C=) c.1750C= (p.Gln584=) c.1510C= (p.Gln504=) c.61C= (p.Gln21=) n.1806C= | |
| 4 | g.5628704G>T | CA356147883 | EVC2 | c.1741C>A (p.Gln581Lys) c.1501C>A (p.Gln501Lys) c.*134C>A (n.*134C>A) c.1750C>A (p.Gln584Lys) c.1510C>A (p.Gln504Lys) c.61C>A (p.Gln21Lys) n.1806C>A | |
| 4 | g.5628705G>A | CA438205205 | EVC2 | c.1740C>T (p.Phe580=) c.1500C>T (p.Phe500=) c.*133C>T (n.*133C>T) c.1749C>T (p.Phe583=) c.1509C>T (p.Phe503=) c.60C>T (p.Phe20=) n.1805C>T | |
| 4 | g.5628705G>C | CA356147884 | EVC2 | c.1740C>G (p.Phe580Leu) c.1500C>G (p.Phe500Leu) c.*133C>G (n.*133C>G) c.1749C>G (p.Phe583Leu) c.1509C>G (p.Phe503Leu) c.60C>G (p.Phe20Leu) n.1805C>G | ClinVar |
| 4 | g.5628705G>T | CA356147885 | EVC2 | c.1740C>A (p.Phe580Leu) c.1500C>A (p.Phe500Leu) c.*133C>A (n.*133C>A) c.1749C>A (p.Phe583Leu) c.1509C>A (p.Phe503Leu) c.60C>A (p.Phe20Leu) n.1805C>A | |
| 4 | g.5628706A>C | CA356147888 | EVC2 | c.1739T>G (p.Phe580Cys) c.1499T>G (p.Phe500Cys) c.*132T>G (n.*132T>G) c.1748T>G (p.Phe583Cys) c.1508T>G (p.Phe503Cys) c.59T>G (p.Phe20Cys) n.1804T>G | |
| 4 | g.5628706A>G | CA356147887 | EVC2 | c.1739T>C (p.Phe580Ser) c.1499T>C (p.Phe500Ser) c.*132T>C (n.*132T>C) c.1748T>C (p.Phe583Ser) c.1508T>C (p.Phe503Ser) c.59T>C (p.Phe20Ser) n.1804T>C | gnomAD v4 |
| 4 | g.5628706A>T | CA356147886 | EVC2 | c.1739T>A (p.Phe580Tyr) c.1499T>A (p.Phe500Tyr) c.*132T>A (n.*132T>A) c.1748T>A (p.Phe583Tyr) c.1508T>A (p.Phe503Tyr) c.59T>A (p.Phe20Tyr) n.1804T>A | |
| 4 | g.5628707A>C | CA356147889 | EVC2 | c.1738T>G (p.Phe580Val) c.1498T>G (p.Phe500Val) c.*131T>G (n.*131T>G) c.1747T>G (p.Phe583Val) c.1507T>G (p.Phe503Val) c.58T>G (p.Phe20Val) n.1803T>G | |
| 4 | g.5628707A>G | CA356147890 | EVC2 | c.1738T>C (p.Phe580Leu) c.1498T>C (p.Phe500Leu) c.*131T>C (n.*131T>C) c.1747T>C (p.Phe583Leu) c.1507T>C (p.Phe503Leu) c.58T>C (p.Phe20Leu) n.1803T>C | |
| 4 | g.5628707A>T | CA356147891 | EVC2 | c.1738T>A (p.Phe580Ile) c.1498T>A (p.Phe500Ile) c.*131T>A (n.*131T>A) c.1747T>A (p.Phe583Ile) c.1507T>A (p.Phe503Ile) c.58T>A (p.Phe20Ile) n.1803T>A | |
| 4 | g.5628708A>C | CA356147892 | EVC2 | c.1737T>G (p.Phe579Leu) c.1497T>G (p.Phe499Leu) c.*130T>G (n.*130T>G) c.1746T>G (p.Phe582Leu) c.1506T>G (p.Phe502Leu) c.57T>G (p.Phe19Leu) n.1802T>G | |
| 4 | g.5628708A>G | CA438205210 | EVC2 | c.1737T>C (p.Phe579=) c.1497T>C (p.Phe499=) c.*130T>C (n.*130T>C) c.1746T>C (p.Phe582=) c.1506T>C (p.Phe502=) c.57T>C (p.Phe19=) n.1802T>C | |
| 4 | g.5628708A>T | CA356147893 | EVC2 | c.1737T>A (p.Phe579Leu) c.1497T>A (p.Phe499Leu) c.*130T>A (n.*130T>A) c.1746T>A (p.Phe582Leu) c.1506T>A (p.Phe502Leu) c.57T>A (p.Phe19Leu) n.1802T>A | |
| 4 | g.5628709A= | CA1435425093 | EVC2 | c.1736T= (p.Phe579=) c.1496T= (p.Phe499=) c.*129T= (n.*129T=) c.1745T= (p.Phe582=) c.1505T= (p.Phe502=) c.56T= (p.Phe19=) n.1801T= | |
| 4 | g.5628709A>C | CA356147894 | EVC2 | c.1736T>G (p.Phe579Cys) c.1496T>G (p.Phe499Cys) c.*129T>G (n.*129T>G) c.1745T>G (p.Phe582Cys) c.1505T>G (p.Phe502Cys) c.56T>G (p.Phe19Cys) n.1801T>G | |
| 4 | g.5628709A>G | CA91712414 | EVC2 | c.1736T>C (p.Phe579Ser) c.1496T>C (p.Phe499Ser) c.*129T>C (n.*129T>C) c.1745T>C (p.Phe582Ser) c.1505T>C (p.Phe502Ser) c.56T>C (p.Phe19Ser) n.1801T>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5628709A>T | CA356147895 | EVC2 | c.1736T>A (p.Phe579Tyr) c.1496T>A (p.Phe499Tyr) c.*129T>A (n.*129T>A) c.1745T>A (p.Phe582Tyr) c.1505T>A (p.Phe502Tyr) c.56T>A (p.Phe19Tyr) n.1801T>A | |
| 4 | g.5628710A= | CA1435425096 | EVC2 | c.1735T= (p.Phe579=) c.1495T= (p.Phe499=) c.*128T= (n.*128T=) c.1744T= (p.Phe582=) c.1504T= (p.Phe502=) c.55T= (p.Phe19=) n.1800T= | |
| 4 | g.5628710A>C | CA2834945 | EVC2 | c.1735T>G (p.Phe579Val) c.1495T>G (p.Phe499Val) c.*128T>G (n.*128T>G) c.1744T>G (p.Phe582Val) c.1504T>G (p.Phe502Val) c.55T>G (p.Phe19Val) n.1800T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628710A>G | CA356147896 | EVC2 | c.1735T>C (p.Phe579Leu) c.1495T>C (p.Phe499Leu) c.*128T>C (n.*128T>C) c.1744T>C (p.Phe582Leu) c.1504T>C (p.Phe502Leu) c.55T>C (p.Phe19Leu) n.1800T>C | |
| 4 | g.5628710A>T | CA356147897 | EVC2 | c.1735T>A (p.Phe579Ile) c.1495T>A (p.Phe499Ile) c.*128T>A (n.*128T>A) c.1744T>A (p.Phe582Ile) c.1504T>A (p.Phe502Ile) c.55T>A (p.Phe19Ile) n.1800T>A | |
| 4 | g.5628711G>A | CA438205212 | EVC2 | c.1734C>T (p.Asp578=) c.1494C>T (p.Asp498=) c.*127C>T (n.*127C>T) c.1743C>T (p.Asp581=) c.1503C>T (p.Asp501=) c.54C>T (p.Asp18=) n.1799C>T | ClinVar gnomAD v4 |
| 4 | g.5628711G>C | CA356147898 | EVC2 | c.1734C>G (p.Asp578Glu) c.1494C>G (p.Asp498Glu) c.*127C>G (n.*127C>G) c.1743C>G (p.Asp581Glu) c.1503C>G (p.Asp501Glu) c.54C>G (p.Asp18Glu) n.1799C>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5628711G= | CA1435425100 | EVC2 | c.1734C= (p.Asp578=) c.1494C= (p.Asp498=) c.*127C= (n.*127C=) c.1743C= (p.Asp581=) c.1503C= (p.Asp501=) c.54C= (p.Asp18=) n.1799C= | |
| 4 | g.5628711G>T | CA356147899 | EVC2 | c.1734C>A (p.Asp578Glu) c.1494C>A (p.Asp498Glu) c.*127C>A (n.*127C>A) c.1743C>A (p.Asp581Glu) c.1503C>A (p.Asp501Glu) c.54C>A (p.Asp18Glu) n.1799C>A | |
| 4 | g.5628712T>A | CA356147901 | EVC2 | c.1733A>T (p.Asp578Val) c.1493A>T (p.Asp498Val) c.*126A>T (n.*126A>T) c.1742A>T (p.Asp581Val) c.1502A>T (p.Asp501Val) c.53A>T (p.Asp18Val) n.1798A>T | |
| 4 | g.5628712T>C | CA356147902 | EVC2 | c.1733A>G (p.Asp578Gly) c.1493A>G (p.Asp498Gly) c.*126A>G (n.*126A>G) c.1742A>G (p.Asp581Gly) c.1502A>G (p.Asp501Gly) c.53A>G (p.Asp18Gly) n.1798A>G | gnomAD v4 |
| 4 | g.5628712T>G | CA356147900 | EVC2 | c.1733A>C (p.Asp578Ala) c.1493A>C (p.Asp498Ala) c.*126A>C (n.*126A>C) c.1742A>C (p.Asp581Ala) c.1502A>C (p.Asp501Ala) c.53A>C (p.Asp18Ala) n.1798A>C | |
| 4 | g.5628713C>A | CA356147903 | EVC2 | c.1732G>T (p.Asp578Tyr) c.1492G>T (p.Asp498Tyr) c.*125G>T (n.*125G>T) c.1741G>T (p.Asp581Tyr) c.1501G>T (p.Asp501Tyr) c.52G>T (p.Asp18Tyr) n.1797G>T | |
| 4 | g.5628713C= | CA1435425105 | EVC2 | c.1732G= (p.Asp578=) c.1492G= (p.Asp498=) c.*125G= (n.*125G=) c.1741G= (p.Asp581=) c.1501G= (p.Asp501=) c.52G= (p.Asp18=) n.1797G= | |
| 4 | g.5628713C>G | CA356147904 | EVC2 | c.1732G>C (p.Asp578His) c.1492G>C (p.Asp498His) c.*125G>C (n.*125G>C) c.1741G>C (p.Asp581His) c.1501G>C (p.Asp501His) c.52G>C (p.Asp18His) n.1797G>C | |
| 4 | g.5628713C>T | CA2834946 | EVC2 | c.1732G>A (p.Asp578Asn) c.1492G>A (p.Asp498Asn) c.*125G>A (n.*125G>A) c.1741G>A (p.Asp581Asn) c.1501G>A (p.Asp501Asn) c.52G>A (p.Asp18Asn) n.1797G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628714C>A | CA356147905 | EVC2 | c.1731G>T (p.Met577Ile) c.1491G>T (p.Met497Ile) c.*124G>T (n.*124G>T) c.1740G>T (p.Met580Ile) c.1500G>T (p.Met500Ile) c.51G>T (p.Met17Ile) n.1796G>T | |
| 4 | g.5628714C= | CA1435425113 | EVC2 | c.1731G= (p.Met577=) c.1491G= (p.Met497=) c.*124G= (n.*124G=) c.1740G= (p.Met580=) c.1500G= (p.Met500=) c.51G= (p.Met17=) n.1796G= | |
| 4 | g.5628714C>G | CA356147906 | EVC2 | c.1731G>C (p.Met577Ile) c.1491G>C (p.Met497Ile) c.*124G>C (n.*124G>C) c.1740G>C (p.Met580Ile) c.1500G>C (p.Met500Ile) c.51G>C (p.Met17Ile) n.1796G>C | |
| 4 | g.5628714C>T | CA2834947 | EVC2 | c.1731G>A (p.Met577Ile) c.1491G>A (p.Met497Ile) c.*124G>A (n.*124G>A) c.1740G>A (p.Met580Ile) c.1500G>A (p.Met500Ile) c.51G>A (p.Met17Ile) n.1796G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628715A= | CA1435425122 | EVC2 | c.1730T= (p.Met577=) c.1490T= (p.Met497=) c.*123T= (n.*123T=) c.1739T= (p.Met580=) c.1499T= (p.Met500=) c.50T= (p.Met17=) n.1795T= | |
| 4 | g.5628715A>C | CA356147907 | EVC2 | c.1730T>G (p.Met577Arg) c.1490T>G (p.Met497Arg) c.*123T>G (n.*123T>G) c.1739T>G (p.Met580Arg) c.1499T>G (p.Met500Arg) c.50T>G (p.Met17Arg) n.1795T>G | |
| 4 | g.5628715A>G | CA2834948 | EVC2 | c.1730T>C (p.Met577Thr) c.1490T>C (p.Met497Thr) c.*123T>C (n.*123T>C) c.1739T>C (p.Met580Thr) c.1499T>C (p.Met500Thr) c.50T>C (p.Met17Thr) n.1795T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628715A>T | CA356147908 | EVC2 | c.1730T>A (p.Met577Lys) c.1490T>A (p.Met497Lys) c.*123T>A (n.*123T>A) c.1739T>A (p.Met580Lys) c.1499T>A (p.Met500Lys) c.50T>A (p.Met17Lys) n.1795T>A | |
| 4 | g.5628716T>A | CA356147909 | EVC2 | c.1729A>T (p.Met577Leu) c.1489A>T (p.Met497Leu) c.*122A>T (n.*122A>T) c.1738A>T (p.Met580Leu) c.1498A>T (p.Met500Leu) c.49A>T (p.Met17Leu) n.1794A>T | |
| 4 | g.5628716T>C | CA356147910 | EVC2 | c.1729A>G (p.Met577Val) c.1489A>G (p.Met497Val) c.*122A>G (n.*122A>G) c.1738A>G (p.Met580Val) c.1498A>G (p.Met500Val) c.49A>G (p.Met17Val) n.1794A>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5628716T>G | CA356147911 | EVC2 | c.1729A>C (p.Met577Leu) c.1489A>C (p.Met497Leu) c.*122A>C (n.*122A>C) c.1738A>C (p.Met580Leu) c.1498A>C (p.Met500Leu) c.49A>C (p.Met17Leu) n.1794A>C | |
| 4 | g.5628716T= | CA1435425128 | EVC2 | c.1729A= (p.Met577=) c.1489A= (p.Met497=) c.*122A= (n.*122A=) c.1738A= (p.Met580=) c.1498A= (p.Met500=) c.49A= (p.Met17=) n.1794A= | |
| 4 | g.5628717T>A | CA356147912 | EVC2 | c.1728A>T (p.Leu576Phe) c.1488A>T (p.Leu496Phe) c.*121A>T (n.*121A>T) c.1737A>T (p.Leu579Phe) c.1497A>T (p.Leu499Phe) c.48A>T (p.Leu16Phe) n.1793A>T | |
| 4 | g.5628717T>C | CA438205215 | EVC2 | c.1728A>G (p.Leu576=) c.1488A>G (p.Leu496=) c.*121A>G (n.*121A>G) c.1737A>G (p.Leu579=) c.1497A>G (p.Leu499=) c.48A>G (p.Leu16=) n.1793A>G | |
| 4 | g.5628717T>G | CA356147913 | EVC2 | c.1728A>C (p.Leu576Phe) c.1488A>C (p.Leu496Phe) c.*121A>C (n.*121A>C) c.1737A>C (p.Leu579Phe) c.1497A>C (p.Leu499Phe) c.48A>C (p.Leu16Phe) n.1793A>C | |
| 4 | g.5628718A>C | CA356147916 | EVC2 | c.1727T>G (p.Leu576Ter) c.1487T>G (p.Leu496Ter) c.*120T>G (n.*120T>G) c.1736T>G (p.Leu579Ter) c.1496T>G (p.Leu499Ter) c.47T>G (p.Leu16Ter) n.1792T>G | |
| 4 | g.5628718A>G | CA356147915 | EVC2 | c.1727T>C (p.Leu576Ser) c.1487T>C (p.Leu496Ser) c.*120T>C (n.*120T>C) c.1736T>C (p.Leu579Ser) c.1496T>C (p.Leu499Ser) c.47T>C (p.Leu16Ser) n.1792T>C | |
| 4 | g.5628718A>T | CA356147914 | EVC2 | c.1727T>A (p.Leu576Ter) c.1487T>A (p.Leu496Ter) c.*120T>A (n.*120T>A) c.1736T>A (p.Leu579Ter) c.1496T>A (p.Leu499Ter) c.47T>A (p.Leu16Ter) n.1792T>A | |
| 4 | g.5628719A= | CA1435425131 | EVC2 | c.1726T= (p.Leu576=) c.1486T= (p.Leu496=) c.*119T= (n.*119T=) c.1735T= (p.Leu579=) c.1495T= (p.Leu499=) c.46T= (p.Leu16=) n.1791T= | |
| 4 | g.5628719A>C | CA356147917 | EVC2 | c.1726T>G (p.Leu576Val) c.1486T>G (p.Leu496Val) c.*119T>G (n.*119T>G) c.1735T>G (p.Leu579Val) c.1495T>G (p.Leu499Val) c.46T>G (p.Leu16Val) n.1791T>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5628719A>G | CA438205217 | EVC2 | c.1726T>C (p.Leu576=) c.1486T>C (p.Leu496=) c.*119T>C (n.*119T>C) c.1735T>C (p.Leu579=) c.1495T>C (p.Leu499=) c.46T>C (p.Leu16=) n.1791T>C | |
| 4 | g.5628719A>T | CA356147918 | EVC2 | c.1726T>A (p.Leu576Ile) c.1486T>A (p.Leu496Ile) c.*119T>A (n.*119T>A) c.1735T>A (p.Leu579Ile) c.1495T>A (p.Leu499Ile) c.46T>A (p.Leu16Ile) n.1791T>A | |
| 4 | g.5628720C>A | CA356147919 | EVC2 | c.1725G>T (p.Glu575Asp) c.1485G>T (p.Glu495Asp) c.*118G>T (n.*118G>T) c.1734G>T (p.Glu578Asp) c.1494G>T (p.Glu498Asp) c.45G>T (p.Glu15Asp) n.1790G>T | |
| 4 | g.5628720C>G | CA356147920 | EVC2 | c.1725G>C (p.Glu575Asp) c.1485G>C (p.Glu495Asp) c.*118G>C (n.*118G>C) c.1734G>C (p.Glu578Asp) c.1494G>C (p.Glu498Asp) c.45G>C (p.Glu15Asp) n.1790G>C | |
| 4 | g.5628720C>T | CA438205218 | EVC2 | c.1725G>A (p.Glu575=) c.1485G>A (p.Glu495=) c.*118G>A (n.*118G>A) c.1734G>A (p.Glu578=) c.1494G>A (p.Glu498=) c.45G>A (p.Glu15=) n.1790G>A | gnomAD v4 |
| 4 | g.5628721T>A | CA356147921 | EVC2 | c.1724A>T (p.Glu575Val) c.1484A>T (p.Glu495Val) c.*117A>T (n.*117A>T) c.1733A>T (p.Glu578Val) c.1493A>T (p.Glu498Val) c.44A>T (p.Glu15Val) n.1789A>T | |
| 4 | g.5628721T>C | CA356147922 | EVC2 | c.1724A>G (p.Glu575Gly) c.1484A>G (p.Glu495Gly) c.*117A>G (n.*117A>G) c.1733A>G (p.Glu578Gly) c.1493A>G (p.Glu498Gly) c.44A>G (p.Glu15Gly) n.1789A>G | |
| 4 | g.5628721T>G | CA356147923 | EVC2 | c.1724A>C (p.Glu575Ala) c.1484A>C (p.Glu495Ala) c.*117A>C (n.*117A>C) c.1733A>C (p.Glu578Ala) c.1493A>C (p.Glu498Ala) c.44A>C (p.Glu15Ala) n.1789A>C | |
| 4 | g.5628722C>A | CA356147924 | EVC2 | c.1723G>T (p.Glu575Ter) c.1483G>T (p.Glu495Ter) c.*116G>T (n.*116G>T) c.1732G>T (p.Glu578Ter) c.1492G>T (p.Glu498Ter) c.43G>T (p.Glu15Ter) n.1788G>T | |
| 4 | g.5628722C= | CA1435425136 | EVC2 | c.1723G= (p.Glu575=) c.1483G= (p.Glu495=) c.*116G= (n.*116G=) c.1732G= (p.Glu578=) c.1492G= (p.Glu498=) c.43G= (p.Glu15=) n.1788G= | |
| 4 | g.5628722C>G | CA356147925 | EVC2 | c.1723G>C (p.Glu575Gln) c.1483G>C (p.Glu495Gln) c.*116G>C (n.*116G>C) c.1732G>C (p.Glu578Gln) c.1492G>C (p.Glu498Gln) c.43G>C (p.Glu15Gln) n.1788G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628722C>T | CA356147926 | EVC2 | c.1723G>A (p.Glu575Lys) c.1483G>A (p.Glu495Lys) c.*116G>A (n.*116G>A) c.1732G>A (p.Glu578Lys) c.1492G>A (p.Glu498Lys) c.43G>A (p.Glu15Lys) n.1788G>A |