UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.5628590G>A | CA116167 | EVC2 | c.1855C>T (p.Gln619Ter) c.1615C>T (p.Gln539Ter) c.*248C>T (n.*248C>T) c.1864C>T (p.Gln622Ter) c.1624C>T (p.Gln542Ter) c.175C>T (p.Gln59Ter) n.1920C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628590G>C | CA356147519 | EVC2 | c.1855C>G (p.Gln619Glu) c.1615C>G (p.Gln539Glu) c.*248C>G (n.*248C>G) c.1864C>G (p.Gln622Glu) c.1624C>G (p.Gln542Glu) c.175C>G (p.Gln59Glu) n.1920C>G | |
| 4 | g.5628590G= | CA1435424873 | EVC2 | c.1855C= (p.Gln619=) c.1615C= (p.Gln539=) c.*248C= (n.*248C=) c.1864C= (p.Gln622=) c.1624C= (p.Gln542=) c.175C= (p.Gln59=) n.1920C= | |
| 4 | g.5628590G>T | CA356147520 | EVC2 | c.1855C>A (p.Gln619Lys) c.1615C>A (p.Gln539Lys) c.*248C>A (n.*248C>A) c.1864C>A (p.Gln622Lys) c.1624C>A (p.Gln542Lys) c.175C>A (p.Gln59Lys) n.1920C>A | |
| 4 | g.5628591G>A | CA2834920 | EVC2 | c.1854C>T (p.Ala618=) c.1614C>T (p.Ala538=) c.*247C>T (n.*247C>T) c.1863C>T (p.Ala621=) c.1623C>T (p.Ala541=) c.174C>T (p.Ala58=) n.1919C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628591G>C | CA2834919 | EVC2 | c.1854C>G (p.Ala618=) c.1614C>G (p.Ala538=) c.*247C>G (n.*247C>G) c.1863C>G (p.Ala621=) c.1623C>G (p.Ala541=) c.174C>G (p.Ala58=) n.1919C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628591G= | CA1435424885 | EVC2 | c.1854C= (p.Ala618=) c.1614C= (p.Ala538=) c.*247C= (n.*247C=) c.1863C= (p.Ala621=) c.1623C= (p.Ala541=) c.174C= (p.Ala58=) n.1919C= | |
| 4 | g.5628591G>T | CA438204975 | EVC2 | c.1854C>A (p.Ala618=) c.1614C>A (p.Ala538=) c.*247C>A (n.*247C>A) c.1863C>A (p.Ala621=) c.1623C>A (p.Ala541=) c.174C>A (p.Ala58=) n.1919C>A | |
| 4 | g.5628592G>A | CA356147524 | EVC2 | c.1853C>T (p.Ala618Val) c.1613C>T (p.Ala538Val) c.*246C>T (n.*246C>T) c.1862C>T (p.Ala621Val) c.1622C>T (p.Ala541Val) c.173C>T (p.Ala58Val) n.1918C>T | gnomAD v4 |
| 4 | g.5628592G>C | CA356147526 | EVC2 | c.1853C>G (p.Ala618Gly) c.1613C>G (p.Ala538Gly) c.*246C>G (n.*246C>G) c.1862C>G (p.Ala621Gly) c.1622C>G (p.Ala541Gly) c.173C>G (p.Ala58Gly) n.1918C>G | gnomAD v4 |
| 4 | g.5628592G= | CA1435424889 | EVC2 | c.1853C= (p.Ala618=) c.1613C= (p.Ala538=) c.*246C= (n.*246C=) c.1862C= (p.Ala621=) c.1622C= (p.Ala541=) c.173C= (p.Ala58=) n.1918C= | |
| 4 | g.5628592G>T | CA91712332 | EVC2 | c.1853C>A (p.Ala618Asp) c.1613C>A (p.Ala538Asp) c.*246C>A (n.*246C>A) c.1862C>A (p.Ala621Asp) c.1622C>A (p.Ala541Asp) c.173C>A (p.Ala58Asp) n.1918C>A | dbSNP gnomAD v4 |
| 4 | g.5628593C>A | CA356147528 | EVC2 | c.1852G>T (p.Ala618Ser) c.1612G>T (p.Ala538Ser) c.*245G>T (n.*245G>T) c.1861G>T (p.Ala621Ser) c.1621G>T (p.Ala541Ser) c.172G>T (p.Ala58Ser) n.1917G>T | gnomAD v4 |
| 4 | g.5628593C= | CA1435424892 | EVC2 | c.1852G= (p.Ala618=) c.1612G= (p.Ala538=) c.*245G= (n.*245G=) c.1861G= (p.Ala621=) c.1621G= (p.Ala541=) c.172G= (p.Ala58=) n.1917G= | |
| 4 | g.5628593C>G | CA356147530 | EVC2 | c.1852G>C (p.Ala618Pro) c.1612G>C (p.Ala538Pro) c.*245G>C (n.*245G>C) c.1861G>C (p.Ala621Pro) c.1621G>C (p.Ala541Pro) c.172G>C (p.Ala58Pro) n.1917G>C | |
| 4 | g.5628593C>T | CA2834921 | EVC2 | c.1852G>A (p.Ala618Thr) c.1612G>A (p.Ala538Thr) c.*245G>A (n.*245G>A) c.1861G>A (p.Ala621Thr) c.1621G>A (p.Ala541Thr) c.172G>A (p.Ala58Thr) n.1917G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628593delinsAAAGA | CA2580070755 | EVC2 | c.1852delinsTCTTT (p.Ala618SerfsTer19) c.1612delinsTCTTT (p.Ala538SerfsTer19) c.*245delinsTCTTT (n.*245delinsTCTTT) c.1861delinsTCTTT (p.Ala621SerfsTer19) c.1621delinsTCTTT (p.Ala541SerfsTer19) c.172delinsTCTTT (p.Ala58SerfsTer19) n.1917delinsTCTTT | ClinVar |
| 4 | g.5628594T>A | CA438204984 | EVC2 | c.1851A>T (p.Ala617=) c.1611A>T (p.Ala537=) c.*244A>T (n.*244A>T) c.1860A>T (p.Ala620=) c.1620A>T (p.Ala540=) c.171A>T (p.Ala57=) n.1916A>T | |
| 4 | g.5628594T>C | CA438204985 | EVC2 | c.1851A>G (p.Ala617=) c.1611A>G (p.Ala537=) c.*244A>G (n.*244A>G) c.1860A>G (p.Ala620=) c.1620A>G (p.Ala540=) c.171A>G (p.Ala57=) n.1916A>G | dbSNP |
| 4 | g.5628594T>G | CA438204986 | EVC2 | c.1851A>C (p.Ala617=) c.1611A>C (p.Ala537=) c.*244A>C (n.*244A>C) c.1860A>C (p.Ala620=) c.1620A>C (p.Ala540=) c.171A>C (p.Ala57=) n.1916A>C | |
| 4 | g.5628594T= | CA1435424895 | EVC2 | c.1851A= (p.Ala617=) c.1611A= (p.Ala537=) c.*244A= (n.*244A=) c.1860A= (p.Ala620=) c.1620A= (p.Ala540=) c.171A= (p.Ala57=) n.1916A= | |
| 4 | g.5628595G>A | CA356147531 | EVC2 | c.1850C>T (p.Ala617Val) c.1610C>T (p.Ala537Val) c.*243C>T (n.*243C>T) c.1859C>T (p.Ala620Val) c.1619C>T (p.Ala540Val) c.170C>T (p.Ala57Val) n.1915C>T | gnomAD v4 |
| 4 | g.5628595G>C | CA356147533 | EVC2 | c.1850C>G (p.Ala617Gly) c.1610C>G (p.Ala537Gly) c.*243C>G (n.*243C>G) c.1859C>G (p.Ala620Gly) c.1619C>G (p.Ala540Gly) c.170C>G (p.Ala57Gly) n.1915C>G | gnomAD v4 |
| 4 | g.5628595G>T | CA356147535 | EVC2 | c.1850C>A (p.Ala617Glu) c.1610C>A (p.Ala537Glu) c.*243C>A (n.*243C>A) c.1859C>A (p.Ala620Glu) c.1619C>A (p.Ala540Glu) c.170C>A (p.Ala57Glu) n.1915C>A | |
| 4 | g.5628596C>A | CA356147536 | EVC2 | c.1849G>T (p.Ala617Ser) c.1609G>T (p.Ala537Ser) c.*242G>T (n.*242G>T) c.1858G>T (p.Ala620Ser) c.1618G>T (p.Ala540Ser) c.169G>T (p.Ala57Ser) n.1914G>T | |
| 4 | g.5628596C>G | CA356147537 | EVC2 | c.1849G>C (p.Ala617Pro) c.1609G>C (p.Ala537Pro) c.*242G>C (n.*242G>C) c.1858G>C (p.Ala620Pro) c.1618G>C (p.Ala540Pro) c.169G>C (p.Ala57Pro) n.1914G>C | |
| 4 | g.5628596C>T | CA356147539 | EVC2 | c.1849G>A (p.Ala617Thr) c.1609G>A (p.Ala537Thr) c.*242G>A (n.*242G>A) c.1858G>A (p.Ala620Thr) c.1618G>A (p.Ala540Thr) c.169G>A (p.Ala57Thr) n.1914G>A | |
| 4 | g.5628597A= | CA1435424898 | EVC2 | c.1848T= (p.Ala616=) c.1608T= (p.Ala536=) c.*241T= (n.*241T=) c.1857T= (p.Ala619=) c.1617T= (p.Ala539=) c.168T= (p.Ala56=) n.1913T= | |
| 4 | g.5628597A>C | CA438204992 | EVC2 | c.1848T>G (p.Ala616=) c.1608T>G (p.Ala536=) c.*241T>G (n.*241T>G) c.1857T>G (p.Ala619=) c.1617T>G (p.Ala539=) c.168T>G (p.Ala56=) n.1913T>G | ClinVar |
| 4 | g.5628597A>G | CA438204993 | EVC2 | c.1848T>C (p.Ala616=) c.1608T>C (p.Ala536=) c.*241T>C (n.*241T>C) c.1857T>C (p.Ala619=) c.1617T>C (p.Ala539=) c.168T>C (p.Ala56=) n.1913T>C | |
| 4 | g.5628597A>T | CA438204994 | EVC2 | c.1848T>A (p.Ala616=) c.1608T>A (p.Ala536=) c.*241T>A (n.*241T>A) c.1857T>A (p.Ala619=) c.1617T>A (p.Ala539=) c.168T>A (p.Ala56=) n.1913T>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5628598G>A | CA356147541 | EVC2 | c.1847C>T (p.Ala616Val) c.1607C>T (p.Ala536Val) c.*240C>T (n.*240C>T) c.1856C>T (p.Ala619Val) c.1616C>T (p.Ala539Val) c.167C>T (p.Ala56Val) n.1912C>T | |
| 4 | g.5628598G>C | CA356147542 | EVC2 | c.1847C>G (p.Ala616Gly) c.1607C>G (p.Ala536Gly) c.*240C>G (n.*240C>G) c.1856C>G (p.Ala619Gly) c.1616C>G (p.Ala539Gly) c.167C>G (p.Ala56Gly) n.1912C>G | |
| 4 | g.5628598G>T | CA356147544 | EVC2 | c.1847C>A (p.Ala616Asp) c.1607C>A (p.Ala536Asp) c.*240C>A (n.*240C>A) c.1856C>A (p.Ala619Asp) c.1616C>A (p.Ala539Asp) c.167C>A (p.Ala56Asp) n.1912C>A | |
| 4 | g.5628599C>A | CA356147547 | EVC2 | c.1846G>T (p.Ala616Ser) c.1606G>T (p.Ala536Ser) c.*239G>T (n.*239G>T) c.1855G>T (p.Ala619Ser) c.1615G>T (p.Ala539Ser) c.166G>T (p.Ala56Ser) n.1911G>T | |
| 4 | g.5628599C= | CA1435424905 | EVC2 | c.1846G= (p.Ala616=) c.1606G= (p.Ala536=) c.*239G= (n.*239G=) c.1855G= (p.Ala619=) c.1615G= (p.Ala539=) c.166G= (p.Ala56=) n.1911G= | |
| 4 | g.5628599C>G | CA356147545 | EVC2 | c.1846G>C (p.Ala616Pro) c.1606G>C (p.Ala536Pro) c.*239G>C (n.*239G>C) c.1855G>C (p.Ala619Pro) c.1615G>C (p.Ala539Pro) c.166G>C (p.Ala56Pro) n.1911G>C | |
| 4 | g.5628599C>T | CA2834922 | EVC2 | c.1846G>A (p.Ala616Thr) c.1606G>A (p.Ala536Thr) c.*239G>A (n.*239G>A) c.1855G>A (p.Ala619Thr) c.1615G>A (p.Ala539Thr) c.166G>A (p.Ala56Thr) n.1911G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628600G>A | CA2834923 | EVC2 | c.1845C>T (p.Thr615=) c.1605C>T (p.Thr535=) c.*238C>T (n.*238C>T) c.1854C>T (p.Thr618=) c.1614C>T (p.Thr538=) c.165C>T (p.Thr55=) n.1910C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628600G>C | CA438204998 | EVC2 | c.1845C>G (p.Thr615=) c.1605C>G (p.Thr535=) c.*238C>G (n.*238C>G) c.1854C>G (p.Thr618=) c.1614C>G (p.Thr538=) c.165C>G (p.Thr55=) n.1910C>G | |
| 4 | g.5628600G= | CA1435424910 | EVC2 | c.1845C= (p.Thr615=) c.1605C= (p.Thr535=) c.*238C= (n.*238C=) c.1854C= (p.Thr618=) c.1614C= (p.Thr538=) c.165C= (p.Thr55=) n.1910C= | |
| 4 | g.5628600G>T | CA438204999 | EVC2 | c.1845C>A (p.Thr615=) c.1605C>A (p.Thr535=) c.*238C>A (n.*238C>A) c.1854C>A (p.Thr618=) c.1614C>A (p.Thr538=) c.165C>A (p.Thr55=) n.1910C>A | |
| 4 | g.5628601G>A | CA2834924 | EVC2 | c.1844C>T (p.Thr615Ile) c.1604C>T (p.Thr535Ile) c.*237C>T (n.*237C>T) c.1853C>T (p.Thr618Ile) c.1613C>T (p.Thr538Ile) c.164C>T (p.Thr55Ile) n.1909C>T | dbSNP ExAC gnomAD v2 |
| 4 | g.5628601G>C | CA356147550 | EVC2 | c.1844C>G (p.Thr615Ser) c.1604C>G (p.Thr535Ser) c.*237C>G (n.*237C>G) c.1853C>G (p.Thr618Ser) c.1613C>G (p.Thr538Ser) c.164C>G (p.Thr55Ser) n.1909C>G | |
| 4 | g.5628601G= | CA1435424916 | EVC2 | c.1844C= (p.Thr615=) c.1604C= (p.Thr535=) c.*237C= (n.*237C=) c.1853C= (p.Thr618=) c.1613C= (p.Thr538=) c.164C= (p.Thr55=) n.1909C= | |
| 4 | g.5628601G>T | CA356147551 | EVC2 | c.1844C>A (p.Thr615Asn) c.1604C>A (p.Thr535Asn) c.*237C>A (n.*237C>A) c.1853C>A (p.Thr618Asn) c.1613C>A (p.Thr538Asn) c.164C>A (p.Thr55Asn) n.1909C>A | |
| 4 | g.5628602T>A | CA356147553 | EVC2 | c.1843A>T (p.Thr615Ser) c.1603A>T (p.Thr535Ser) c.*236A>T (n.*236A>T) c.1852A>T (p.Thr618Ser) c.1612A>T (p.Thr538Ser) c.163A>T (p.Thr55Ser) n.1908A>T | |
| 4 | g.5628602T>C | CA356147555 | EVC2 | c.1843A>G (p.Thr615Ala) c.1603A>G (p.Thr535Ala) c.*236A>G (n.*236A>G) c.1852A>G (p.Thr618Ala) c.1612A>G (p.Thr538Ala) c.163A>G (p.Thr55Ala) n.1908A>G | |
| 4 | g.5628602T>G | CA356147556 | EVC2 | c.1843A>C (p.Thr615Pro) c.1603A>C (p.Thr535Pro) c.*236A>C (n.*236A>C) c.1852A>C (p.Thr618Pro) c.1612A>C (p.Thr538Pro) c.163A>C (p.Thr55Pro) n.1908A>C | |
| 4 | g.5628603G>A | CA438205008 | EVC2 | c.1842C>T (p.Ser614=) c.1602C>T (p.Ser534=) c.*235C>T (n.*235C>T) c.1851C>T (p.Ser617=) c.1611C>T (p.Ser537=) c.162C>T (p.Ser54=) n.1907C>T | |
| 4 | g.5628603G>C | CA356147557 | EVC2 | c.1842C>G (p.Ser614Arg) c.1602C>G (p.Ser534Arg) c.*235C>G (n.*235C>G) c.1851C>G (p.Ser617Arg) c.1611C>G (p.Ser537Arg) c.162C>G (p.Ser54Arg) n.1907C>G | |
| 4 | g.5628603G>T | CA356147559 | EVC2 | c.1842C>A (p.Ser614Arg) c.1602C>A (p.Ser534Arg) c.*235C>A (n.*235C>A) c.1851C>A (p.Ser617Arg) c.1611C>A (p.Ser537Arg) c.162C>A (p.Ser54Arg) n.1907C>A | |
| 4 | g.5628604C>A | CA356147561 | EVC2 | c.1841G>T (p.Ser614Ile) c.1601G>T (p.Ser534Ile) c.*234G>T (n.*234G>T) c.1850G>T (p.Ser617Ile) c.1610G>T (p.Ser537Ile) c.161G>T (p.Ser54Ile) n.1906G>T | gnomAD v4 COSMIC COSMIC |
| 4 | g.5628604C>G | CA356147562 | EVC2 | c.1841G>C (p.Ser614Thr) c.1601G>C (p.Ser534Thr) c.*234G>C (n.*234G>C) c.1850G>C (p.Ser617Thr) c.1610G>C (p.Ser537Thr) c.161G>C (p.Ser54Thr) n.1906G>C | |
| 4 | g.5628604C>T | CA356147564 | EVC2 | c.1841G>A (p.Ser614Asn) c.1601G>A (p.Ser534Asn) c.*234G>A (n.*234G>A) c.1850G>A (p.Ser617Asn) c.1610G>A (p.Ser537Asn) c.161G>A (p.Ser54Asn) n.1906G>A | |
| 4 | g.5628605T>A | CA356147568 | EVC2 | c.1840A>T (p.Ser614Cys) c.1600A>T (p.Ser534Cys) c.*233A>T (n.*233A>T) c.1849A>T (p.Ser617Cys) c.1609A>T (p.Ser537Cys) c.160A>T (p.Ser54Cys) n.1905A>T | |
| 4 | g.5628605T>C | CA356147566 | EVC2 | c.1840A>G (p.Ser614Gly) c.1600A>G (p.Ser534Gly) c.*233A>G (n.*233A>G) c.1849A>G (p.Ser617Gly) c.1609A>G (p.Ser537Gly) c.160A>G (p.Ser54Gly) n.1905A>G | |
| 4 | g.5628605T>G | CA356147565 | EVC2 | c.1840A>C (p.Ser614Arg) c.1600A>C (p.Ser534Arg) c.*233A>C (n.*233A>C) c.1849A>C (p.Ser617Arg) c.1609A>C (p.Ser537Arg) c.160A>C (p.Ser54Arg) n.1905A>C | |
| 4 | g.5628606C>A | CA438205011 | EVC2 | c.1839G>T (p.Leu613=) c.1599G>T (p.Leu533=) c.*232G>T (n.*232G>T) c.1848G>T (p.Leu616=) c.1608G>T (p.Leu536=) c.159G>T (p.Leu53=) n.1904G>T | |
| 4 | g.5628606C>G | CA438205016 | EVC2 | c.1839G>C (p.Leu613=) c.1599G>C (p.Leu533=) c.*232G>C (n.*232G>C) c.1848G>C (p.Leu616=) c.1608G>C (p.Leu536=) c.159G>C (p.Leu53=) n.1904G>C | gnomAD v4 |
| 4 | g.5628606C>T | CA438205013 | EVC2 | c.1839G>A (p.Leu613=) c.1599G>A (p.Leu533=) c.*232G>A (n.*232G>A) c.1848G>A (p.Leu616=) c.1608G>A (p.Leu536=) c.159G>A (p.Leu53=) n.1904G>A | |
| 4 | g.5628607A= | CA1435424918 | EVC2 | c.1838T= (p.Leu613=) c.1598T= (p.Leu533=) c.*231T= (n.*231T=) c.1847T= (p.Leu616=) c.1607T= (p.Leu536=) c.158T= (p.Leu53=) n.1903T= | |
| 4 | g.5628607A>C | CA356147572 | EVC2 | c.1838T>G (p.Leu613Arg) c.1598T>G (p.Leu533Arg) c.*231T>G (n.*231T>G) c.1847T>G (p.Leu616Arg) c.1607T>G (p.Leu536Arg) c.158T>G (p.Leu53Arg) n.1903T>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5628607A>G | CA356147570 | EVC2 | c.1838T>C (p.Leu613Pro) c.1598T>C (p.Leu533Pro) c.*231T>C (n.*231T>C) c.1847T>C (p.Leu616Pro) c.1607T>C (p.Leu536Pro) c.158T>C (p.Leu53Pro) n.1903T>C | gnomAD v4 |
| 4 | g.5628607A>T | CA356147573 | EVC2 | c.1838T>A (p.Leu613Gln) c.1598T>A (p.Leu533Gln) c.*231T>A (n.*231T>A) c.1847T>A (p.Leu616Gln) c.1607T>A (p.Leu536Gln) c.158T>A (p.Leu53Gln) n.1903T>A | |
| 4 | g.5628608G>A | CA438205021 | EVC2 | c.1837C>T (p.Leu613=) c.1597C>T (p.Leu533=) c.*230C>T (n.*230C>T) c.1846C>T (p.Leu616=) c.1606C>T (p.Leu536=) c.157C>T (p.Leu53=) n.1902C>T | gnomAD v4 COSMIC COSMIC |
| 4 | g.5628608G>C | CA356147574 | EVC2 | c.1837C>G (p.Leu613Val) c.1597C>G (p.Leu533Val) c.*230C>G (n.*230C>G) c.1846C>G (p.Leu616Val) c.1606C>G (p.Leu536Val) c.157C>G (p.Leu53Val) n.1902C>G | |
| 4 | g.5628608G>T | CA356147576 | EVC2 | c.1837C>A (p.Leu613Met) c.1597C>A (p.Leu533Met) c.*230C>A (n.*230C>A) c.1846C>A (p.Leu616Met) c.1606C>A (p.Leu536Met) c.157C>A (p.Leu53Met) n.1902C>A | |
| 4 | g.5628609A>C | CA438205022 | EVC2 | c.1836T>G (p.Leu612=) c.1596T>G (p.Leu532=) c.*229T>G (n.*229T>G) c.1845T>G (p.Leu615=) c.1605T>G (p.Leu535=) c.156T>G (p.Leu52=) n.1901T>G | |
| 4 | g.5628609A>G | CA438205023 | EVC2 | c.1836T>C (p.Leu612=) c.1596T>C (p.Leu532=) c.*229T>C (n.*229T>C) c.1845T>C (p.Leu615=) c.1605T>C (p.Leu535=) c.156T>C (p.Leu52=) n.1901T>C | |
| 4 | g.5628609A>T | CA438205024 | EVC2 | c.1836T>A (p.Leu612=) c.1596T>A (p.Leu532=) c.*229T>A (n.*229T>A) c.1845T>A (p.Leu615=) c.1605T>A (p.Leu535=) c.156T>A (p.Leu52=) n.1901T>A | |
| 4 | g.5628609_5628610insTTTTATAACAA | CA2669801017 | EVC2 | c.1836_1837insTGTTATAAAAT (p.Leu613CysfsTer5) c.1596_1597insTGTTATAAAAT (p.Leu533CysfsTer5) c.*229_*230insTGTTATAAAAT (n.*229_*230insTGTTATAAAAT) c.1845_1846insTGTTATAAAAT (p.Leu616CysfsTer5) c.1605_1606insTGTTATAAAAT (p.Leu536CysfsTer5) c.156_157insTGTTATAAAAT (p.Leu53CysfsTer5) n.1901_1902insTGTTATAAAAT | gnomAD v4 |
| 4 | g.5628610A>C | CA356147578 | EVC2 | c.1835T>G (p.Leu612Arg) c.1595T>G (p.Leu532Arg) c.*228T>G (n.*228T>G) c.1844T>G (p.Leu615Arg) c.1604T>G (p.Leu535Arg) c.155T>G (p.Leu52Arg) n.1900T>G | |
| 4 | g.5628610A>G | CA356147579 | EVC2 | c.1835T>C (p.Leu612Pro) c.1595T>C (p.Leu532Pro) c.*228T>C (n.*228T>C) c.1844T>C (p.Leu615Pro) c.1604T>C (p.Leu535Pro) c.155T>C (p.Leu52Pro) n.1900T>C | gnomAD v4 |
| 4 | g.5628610A>T | CA356147581 | EVC2 | c.1835T>A (p.Leu612His) c.1595T>A (p.Leu532His) c.*228T>A (n.*228T>A) c.1844T>A (p.Leu615His) c.1604T>A (p.Leu535His) c.155T>A (p.Leu52His) n.1900T>A | |
| 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.5628611G>A | CA2834925 | EVC2 | c.1834C>T (p.Leu612Phe) c.1594C>T (p.Leu532Phe) c.*227C>T (n.*227C>T) c.1843C>T (p.Leu615Phe) c.1603C>T (p.Leu535Phe) c.154C>T (p.Leu52Phe) n.1899C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5628611G>C | CA356147583 | EVC2 | c.1834C>G (p.Leu612Val) c.1594C>G (p.Leu532Val) c.*227C>G (n.*227C>G) c.1843C>G (p.Leu615Val) c.1603C>G (p.Leu535Val) c.154C>G (p.Leu52Val) n.1899C>G | dbSNP |
| 4 | g.5628611G= | CA1435424922 | EVC2 | c.1834C= (p.Leu612=) c.1594C= (p.Leu532=) c.*227C= (n.*227C=) c.1843C= (p.Leu615=) c.1603C= (p.Leu535=) c.154C= (p.Leu52=) n.1899C= | |
| 4 | g.5628611G>T | CA356147584 | EVC2 | c.1834C>A (p.Leu612Ile) c.1594C>A (p.Leu532Ile) c.*227C>A (n.*227C>A) c.1843C>A (p.Leu615Ile) c.1603C>A (p.Leu535Ile) c.154C>A (p.Leu52Ile) n.1899C>A | |
| 4 | g.5628612G>A | CA91712356 | EVC2 | c.1833C>T (p.Gly611=) c.1593C>T (p.Gly531=) c.*226C>T (n.*226C>T) c.1842C>T (p.Gly614=) c.1602C>T (p.Gly534=) c.153C>T (p.Gly51=) n.1898C>T | dbSNP |
| 4 | g.5628612G>C | CA438205032 | EVC2 | c.1833C>G (p.Gly611=) c.1593C>G (p.Gly531=) c.*226C>G (n.*226C>G) c.1842C>G (p.Gly614=) c.1602C>G (p.Gly534=) c.153C>G (p.Gly51=) n.1898C>G | |
| 4 | g.5628612G= | CA1435424927 | EVC2 | c.1833C= (p.Gly611=) c.1593C= (p.Gly531=) c.*226C= (n.*226C=) c.1842C= (p.Gly614=) c.1602C= (p.Gly534=) c.153C= (p.Gly51=) n.1898C= | |
| 4 | g.5628612G>T | CA438205033 | EVC2 | c.1833C>A (p.Gly611=) c.1593C>A (p.Gly531=) c.*226C>A (n.*226C>A) c.1842C>A (p.Gly614=) c.1602C>A (p.Gly534=) c.153C>A (p.Gly51=) n.1898C>A | ClinVar dbSNP |
| 4 | g.5628613C>A | CA356147585 | EVC2 | c.1832G>T (p.Gly611Val) c.1592G>T (p.Gly531Val) c.*225G>T (n.*225G>T) c.1841G>T (p.Gly614Val) c.1601G>T (p.Gly534Val) c.152G>T (p.Gly51Val) n.1897G>T | |
| 4 | g.5628613C= | CA1435424930 | EVC2 | c.1832G= (p.Gly611=) c.1592G= (p.Gly531=) c.*225G= (n.*225G=) c.1841G= (p.Gly614=) c.1601G= (p.Gly534=) c.152G= (p.Gly51=) n.1897G= | |
| 4 | g.5628613C>G | CA356147587 | EVC2 | c.1832G>C (p.Gly611Ala) c.1592G>C (p.Gly531Ala) c.*225G>C (n.*225G>C) c.1841G>C (p.Gly614Ala) c.1601G>C (p.Gly534Ala) c.152G>C (p.Gly51Ala) n.1897G>C | |
| 4 | g.5628613C>T | CA356147588 | EVC2 | c.1832G>A (p.Gly611Asp) c.1592G>A (p.Gly531Asp) c.*225G>A (n.*225G>A) c.1841G>A (p.Gly614Asp) c.1601G>A (p.Gly534Asp) c.152G>A (p.Gly51Asp) n.1897G>A | dbSNP |
| 4 | g.5628614C>A | CA356147592 | EVC2 | c.1831G>T (p.Gly611Cys) c.1591G>T (p.Gly531Cys) c.*224G>T (n.*224G>T) c.1840G>T (p.Gly614Cys) c.1600G>T (p.Gly534Cys) c.151G>T (p.Gly51Cys) n.1896G>T | |
| 4 | g.5628614C>G | CA356147589 | EVC2 | c.1831G>C (p.Gly611Arg) c.1591G>C (p.Gly531Arg) c.*224G>C (n.*224G>C) c.1840G>C (p.Gly614Arg) c.1600G>C (p.Gly534Arg) c.151G>C (p.Gly51Arg) n.1896G>C | |
| 4 | g.5628614C>T | CA356147590 | EVC2 | c.1831G>A (p.Gly611Ser) c.1591G>A (p.Gly531Ser) c.*224G>A (n.*224G>A) c.1840G>A (p.Gly614Ser) c.1600G>A (p.Gly534Ser) c.151G>A (p.Gly51Ser) n.1896G>A | |
| 4 | g.5628615C>A | CA356147593 | EVC2 | c.1830G>T (p.Gln610His) c.1590G>T (p.Gln530His) c.*223G>T (n.*223G>T) c.1839G>T (p.Gln613His) c.1599G>T (p.Gln533His) c.150G>T (p.Gln50His) n.1895G>T | |
| 4 | g.5628615C>G | CA356147594 | EVC2 | c.1830G>C (p.Gln610His) c.1590G>C (p.Gln530His) c.*223G>C (n.*223G>C) c.1839G>C (p.Gln613His) c.1599G>C (p.Gln533His) c.150G>C (p.Gln50His) n.1895G>C | |
| 4 | g.5628615C>T | CA438205036 | EVC2 | c.1830G>A (p.Gln610=) c.1590G>A (p.Gln530=) c.*223G>A (n.*223G>A) c.1839G>A (p.Gln613=) c.1599G>A (p.Gln533=) c.150G>A (p.Gln50=) n.1895G>A | |
| 4 | g.5628616T>A | CA356147595 | EVC2 | c.1829A>T (p.Gln610Leu) c.1589A>T (p.Gln530Leu) c.*222A>T (n.*222A>T) c.1838A>T (p.Gln613Leu) c.1598A>T (p.Gln533Leu) c.149A>T (p.Gln50Leu) n.1894A>T | |
| 4 | g.5628616T>C | CA356147596 | EVC2 | c.1829A>G (p.Gln610Arg) c.1589A>G (p.Gln530Arg) c.*222A>G (n.*222A>G) c.1838A>G (p.Gln613Arg) c.1598A>G (p.Gln533Arg) c.149A>G (p.Gln50Arg) n.1894A>G | |
| 4 | g.5628616T>G | CA356147598 | EVC2 | c.1829A>C (p.Gln610Pro) c.1589A>C (p.Gln530Pro) c.*222A>C (n.*222A>C) c.1838A>C (p.Gln613Pro) c.1598A>C (p.Gln533Pro) c.149A>C (p.Gln50Pro) n.1894A>C | |
| 4 | g.5628617G>A | CA356147600 | EVC2 | c.1828C>T (p.Gln610Ter) c.1588C>T (p.Gln530Ter) c.*221C>T (n.*221C>T) c.1837C>T (p.Gln613Ter) c.1597C>T (p.Gln533Ter) c.148C>T (p.Gln50Ter) n.1893C>T | |
| 4 | g.5628617G>C | CA356147602 | EVC2 | c.1828C>G (p.Gln610Glu) c.1588C>G (p.Gln530Glu) c.*221C>G (n.*221C>G) c.1837C>G (p.Gln613Glu) c.1597C>G (p.Gln533Glu) c.148C>G (p.Gln50Glu) n.1893C>G | |
| 4 | g.5628617G>T | CA356147603 | EVC2 | c.1828C>A (p.Gln610Lys) c.1588C>A (p.Gln530Lys) c.*221C>A (n.*221C>A) c.1837C>A (p.Gln613Lys) c.1597C>A (p.Gln533Lys) c.148C>A (p.Gln50Lys) n.1893C>A | |
| 4 | g.5628618C>A | CA438205040 | EVC2 | c.1827G>T (p.Val609=) c.1587G>T (p.Val529=) c.*220G>T (n.*220G>T) c.1836G>T (p.Val612=) c.1596G>T (p.Val532=) c.147G>T (p.Val49=) n.1892G>T | |
| 4 | g.5628618C= | CA1435424934 | EVC2 | c.1827G= (p.Val609=) c.1587G= (p.Val529=) c.*220G= (n.*220G=) c.1836G= (p.Val612=) c.1596G= (p.Val532=) c.147G= (p.Val49=) n.1892G= | |
| 4 | g.5628618C>G | CA438205042 | EVC2 | c.1827G>C (p.Val609=) c.1587G>C (p.Val529=) c.*220G>C (n.*220G>C) c.1836G>C (p.Val612=) c.1596G>C (p.Val532=) c.147G>C (p.Val49=) n.1892G>C | |
| 4 | g.5628618C>T | CA2834926 | EVC2 | c.1827G>A (p.Val609=) c.1587G>A (p.Val529=) c.*220G>A (n.*220G>A) c.1836G>A (p.Val612=) c.1596G>A (p.Val532=) c.147G>A (p.Val49=) n.1892G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.5628619A>C | CA356147604 | EVC2 | c.1826T>G (p.Val609Gly) c.1586T>G (p.Val529Gly) c.*219T>G (n.*219T>G) c.1835T>G (p.Val612Gly) c.1595T>G (p.Val532Gly) c.146T>G (p.Val49Gly) n.1891T>G | |
| 4 | g.5628619A>G | CA356147606 | EVC2 | c.1826T>C (p.Val609Ala) c.1586T>C (p.Val529Ala) c.*219T>C (n.*219T>C) c.1835T>C (p.Val612Ala) c.1595T>C (p.Val532Ala) c.146T>C (p.Val49Ala) n.1891T>C | gnomAD v4 |
| 4 | g.5628619A>T | CA356147607 | EVC2 | c.1826T>A (p.Val609Glu) c.1586T>A (p.Val529Glu) c.*219T>A (n.*219T>A) c.1835T>A (p.Val612Glu) c.1595T>A (p.Val532Glu) c.146T>A (p.Val49Glu) n.1891T>A | |
| 4 | g.5628620C>A | CA356147611 | EVC2 | c.1825G>T (p.Val609Leu) c.1585G>T (p.Val529Leu) c.*218G>T (n.*218G>T) c.1834G>T (p.Val612Leu) c.1594G>T (p.Val532Leu) c.145G>T (p.Val49Leu) n.1890G>T | |
| 4 | g.5628620C= | CA1435424937 | EVC2 | c.1825G= (p.Val609=) c.1585G= (p.Val529=) c.*218G= (n.*218G=) c.1834G= (p.Val612=) c.1594G= (p.Val532=) c.145G= (p.Val49=) n.1890G= | |
| 4 | g.5628620C>G | CA356147610 | EVC2 | c.1825G>C (p.Val609Leu) c.1585G>C (p.Val529Leu) c.*218G>C (n.*218G>C) c.1834G>C (p.Val612Leu) c.1594G>C (p.Val532Leu) c.145G>C (p.Val49Leu) n.1890G>C | |
| 4 | g.5628620C>T | CA91712362 | EVC2 | c.1825G>A (p.Val609Met) c.1585G>A (p.Val529Met) c.*218G>A (n.*218G>A) c.1834G>A (p.Val612Met) c.1594G>A (p.Val532Met) c.145G>A (p.Val49Met) n.1890G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5628621A= | CA1435424941 | EVC2 | c.1824T= (p.Arg608=) c.1584T= (p.Arg528=) c.*217T= (n.*217T=) c.1833T= (p.Arg611=) c.1593T= (p.Arg531=) c.144T= (p.Arg48=) n.1889T= | |
| 4 | g.5628621A>C | CA438205047 | EVC2 | c.1824T>G (p.Arg608=) c.1584T>G (p.Arg528=) c.*217T>G (n.*217T>G) c.1833T>G (p.Arg611=) c.1593T>G (p.Arg531=) c.144T>G (p.Arg48=) n.1889T>G | |
| 4 | g.5628621A>G | CA438205048 | EVC2 | c.1824T>C (p.Arg608=) c.1584T>C (p.Arg528=) c.*217T>C (n.*217T>C) c.1833T>C (p.Arg611=) c.1593T>C (p.Arg531=) c.144T>C (p.Arg48=) n.1889T>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5628621A>T | CA438205049 | EVC2 | c.1824T>A (p.Arg608=) c.1584T>A (p.Arg528=) c.*217T>A (n.*217T>A) c.1833T>A (p.Arg611=) c.1593T>A (p.Arg531=) c.144T>A (p.Arg48=) n.1889T>A | |
| 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 |