Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.99880628G>A | CA1183929006 | AGL | c.1736-4G>A (n.1736-4G>A) n.1947-4G>A c.1688-4G>A (n.1688-4G>A) c.1685-4G>A (n.1685-4G>A) c.-5-4G>A (n.-5-4G>A) | ClinVar dbSNP |
1 | g.99880628G= | CA1183929005 | AGL | c.1736-4G= (n.1736-4G=) n.1947-4G= c.1688-4G= (n.1688-4G=) c.1685-4G= (n.1685-4G=) c.-5-4G= (n.-5-4G=) | |
1 | g.99880630A>C | CA341316178 | AGL | c.1736-2A>C (n.1736-2A>C) n.1947-2A>C c.1688-2A>C (n.1688-2A>C) c.1685-2A>C (n.1685-2A>C) c.-5-2A>C (n.-5-2A>C) | |
1 | g.99880630A>G | CA341316184 | AGL | c.1736-2A>G (n.1736-2A>G) n.1947-2A>G c.1688-2A>G (n.1688-2A>G) c.1685-2A>G (n.1685-2A>G) c.-5-2A>G (n.-5-2A>G) | |
1 | g.99880630A>T | CA341316195 | AGL | c.1736-2A>T (n.1736-2A>T) n.1947-2A>T c.1688-2A>T (n.1688-2A>T) c.1685-2A>T (n.1685-2A>T) c.-5-2A>T (n.-5-2A>T) | |
1 | g.99880631G>A | CA341316206 | AGL | c.1736-1G>A (n.1736-1G>A) n.1947-1G>A c.1688-1G>A (n.1688-1G>A) c.1685-1G>A (n.1685-1G>A) c.-5-1G>A (n.-5-1G>A) | |
1 | g.99880631G>C | CA341316202 | AGL | c.1736-1G>C (n.1736-1G>C) n.1947-1G>C c.1688-1G>C (n.1688-1G>C) c.1685-1G>C (n.1685-1G>C) c.-5-1G>C (n.-5-1G>C) | |
1 | g.99880631G>T | CA341316204 | AGL | c.1736-1G>T (n.1736-1G>T) n.1947-1G>T c.1688-1G>T (n.1688-1G>T) c.1685-1G>T (n.1685-1G>T) c.-5-1G>T (n.-5-1G>T) | |
1 | g.99880632A>C | CA341316210 | AGL | c.1736A>C (p.Glu579Ala) n.1947A>C c.1688A>C (p.Glu563Ala) c.1685A>C (p.Glu562Ala) c.-5A>C (n.-5A>C) | |
1 | g.99880632A>G | CA341316211 | AGL | c.1736A>G (p.Glu579Gly) n.1947A>G c.1688A>G (p.Glu563Gly) c.1685A>G (p.Glu562Gly) c.-5A>G (n.-5A>G) | |
1 | g.99880632A>T | CA341316212 | AGL | c.1736A>T (p.Glu579Val) n.1947A>T c.1688A>T (p.Glu563Val) c.1685A>T (p.Glu562Val) c.-5A>T (n.-5A>T) | COSMIC |
1 | g.99880633G>A | CA419080432 | AGL | c.1737G>A (p.Glu579=) n.1948G>A c.1689G>A (p.Glu563=) c.1686G>A (p.Glu562=) c.-4G>A (n.-4G>A) | |
1 | g.99880633G>C | CA341316213 | AGL | c.1737G>C (p.Glu579Asp) n.1948G>C c.1689G>C (p.Glu563Asp) c.1686G>C (p.Glu562Asp) c.-4G>C (n.-4G>C) | |
1 | g.99880633G>T | CA341316215 | AGL | c.1737G>T (p.Glu579Asp) n.1948G>T c.1689G>T (p.Glu563Asp) c.1686G>T (p.Glu562Asp) c.-4G>T (n.-4G>T) | |
1 | g.99880634G>A | CA341316217 | AGL | c.1738G>A (p.Ala580Thr) n.1949G>A c.1690G>A (p.Ala564Thr) c.1687G>A (p.Ala563Thr) c.-3G>A (n.-3G>A) | gnomAD v4 |
1 | g.99880634G>C | CA341316219 | AGL | c.1738G>C (p.Ala580Pro) n.1949G>C c.1690G>C (p.Ala564Pro) c.1687G>C (p.Ala563Pro) c.-3G>C (n.-3G>C) | |
1 | g.99880634G>T | CA341316218 | AGL | c.1738G>T (p.Ala580Ser) n.1949G>T c.1690G>T (p.Ala564Ser) c.1687G>T (p.Ala563Ser) c.-3G>T (n.-3G>T) | |
1 | g.99880635C>A | CA341316221 | AGL | c.1739C>A (p.Ala580Glu) n.1950C>A c.1691C>A (p.Ala564Glu) c.1688C>A (p.Ala563Glu) c.-2C>A (n.-2C>A) | |
1 | g.99880635C>G | CA341316234 | AGL | c.1739C>G (p.Ala580Gly) n.1950C>G c.1691C>G (p.Ala564Gly) c.1688C>G (p.Ala563Gly) c.-2C>G (n.-2C>G) | |
1 | g.99880635C>T | CA341316237 | AGL | c.1739C>T (p.Ala580Val) n.1950C>T c.1691C>T (p.Ala564Val) c.1688C>T (p.Ala563Val) c.-2C>T (n.-2C>T) | |
1 | g.99880636A= | CA1148297066 | AGL | c.1740A= (p.Ala580=) n.1951A= c.1692A= (p.Ala564=) c.1689A= (p.Ala563=) c.-1A= (n.-1A=) | |
1 | g.99880636A>C | CA419080456 | AGL | c.1740A>C (p.Ala580=) n.1951A>C c.1692A>C (p.Ala564=) c.1689A>C (p.Ala563=) c.-1A>C (n.-1A>C) | |
1 | g.99880636A>G | CA966582 | AGL | c.1740A>G (p.Ala580=) n.1951A>G c.1692A>G (p.Ala564=) c.1689A>G (p.Ala563=) c.-1A>G (n.-1A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99880636A>T | CA419080468 | AGL | c.1740A>T (p.Ala580=) n.1951A>T c.1692A>T (p.Ala564=) c.1689A>T (p.Ala563=) c.-1A>T (n.-1A>T) | |
1 | g.99880637A= | CA1183929007 | AGL | c.1741A= (p.Met581=) n.1952A= c.1693A= (p.Met565=) c.1690A= (p.Met564=) c.1A= (p.Met1=) | |
1 | g.99880637A>C | CA341316238 | AGL | c.1741A>C (p.Met581Leu) n.1952A>C c.1693A>C (p.Met565Leu) c.1690A>C (p.Met564Leu) c.1A>C (p.Met1Leu) | |
1 | g.99880637A>G | CA341316239 | AGL | c.1741A>G (p.Met581Val) n.1952A>G c.1693A>G (p.Met565Val) c.1690A>G (p.Met564Val) c.1A>G (p.Met1Val) | dbSNP gnomAD v4 |
1 | g.99880637A>T | CA341316240 | AGL | c.1741A>T (p.Met581Leu) n.1952A>T c.1693A>T (p.Met565Leu) c.1690A>T (p.Met564Leu) c.1A>T (p.Met1Leu) | |
1 | g.99880638T>A | CA341316241 | AGL | c.1742T>A (p.Met581Lys) n.1953T>A c.1694T>A (p.Met565Lys) c.1691T>A (p.Met564Lys) c.2T>A (p.Met1Lys) | |
1 | g.99880638T>C | CA341316243 | AGL | c.1742T>C (p.Met581Thr) n.1953T>C c.1694T>C (p.Met565Thr) c.1691T>C (p.Met564Thr) c.2T>C (p.Met1Thr) | gnomAD v4 |
1 | g.99880638T>G | CA341316245 | AGL | c.1742T>G (p.Met581Arg) n.1953T>G c.1694T>G (p.Met565Arg) c.1691T>G (p.Met564Arg) c.2T>G (p.Met1Arg) | |
1 | g.99880639G>A | CA341316258 | AGL | c.1743G>A (p.Met581Ile) n.1954G>A c.1695G>A (p.Met565Ile) c.1692G>A (p.Met564Ile) c.3G>A (p.Met1Ile) | gnomAD v4 |
1 | g.99880639G>C | CA341316256 | AGL | c.1743G>C (p.Met581Ile) n.1954G>C c.1695G>C (p.Met565Ile) c.1692G>C (p.Met564Ile) c.3G>C (p.Met1Ile) | |
1 | g.99880639G>T | CA341316254 | AGL | c.1743G>T (p.Met581Ile) n.1954G>T c.1695G>T (p.Met565Ile) c.1692G>T (p.Met564Ile) c.3G>T (p.Met1Ile) | |
1 | g.99880640A= | CA1183929008 | AGL | c.1744A= (p.Ser582=) n.1955A= c.1696A= (p.Ser566=) c.1693A= (p.Ser565=) c.4A= (p.Ser2=) | |
1 | g.99880640A>C | CA341316261 | AGL | c.1744A>C (p.Ser582Arg) n.1955A>C c.1696A>C (p.Ser566Arg) c.1693A>C (p.Ser565Arg) c.4A>C (p.Ser2Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99880640A>G | CA341316262 | AGL | c.1744A>G (p.Ser582Gly) n.1955A>G c.1696A>G (p.Ser566Gly) c.1693A>G (p.Ser565Gly) c.4A>G (p.Ser2Gly) | |
1 | g.99880640A>T | CA341316264 | AGL | c.1744A>T (p.Ser582Cys) n.1955A>T c.1696A>T (p.Ser566Cys) c.1693A>T (p.Ser565Cys) c.4A>T (p.Ser2Cys) | |
1 | g.99880641G>A | CA966583 | AGL | c.1745G>A (p.Ser582Asn) n.1956G>A c.1697G>A (p.Ser566Asn) c.1694G>A (p.Ser565Asn) c.5G>A (p.Ser2Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99880641G>C | CA341316268 | AGL | c.1745G>C (p.Ser582Thr) n.1956G>C c.1697G>C (p.Ser566Thr) c.1694G>C (p.Ser565Thr) c.5G>C (p.Ser2Thr) | |
1 | g.99880641G= | CA1183929009 | AGL | c.1745G= (p.Ser582=) n.1956G= c.1697G= (p.Ser566=) c.1694G= (p.Ser565=) c.5G= (p.Ser2=) | |
1 | g.99880641G>T | CA341316272 | AGL | c.1745G>T (p.Ser582Ile) n.1956G>T c.1697G>T (p.Ser566Ile) c.1694G>T (p.Ser565Ile) c.5G>T (p.Ser2Ile) | |
1 | g.99880642T>A | CA341316273 | AGL | c.1746T>A (p.Ser582Arg) n.1957T>A c.1698T>A (p.Ser566Arg) c.1695T>A (p.Ser565Arg) c.6T>A (p.Ser2Arg) | |
1 | g.99880642T>C | CA966584 | AGL | c.1746T>C (p.Ser582=) n.1957T>C c.1698T>C (p.Ser566=) c.1695T>C (p.Ser565=) c.6T>C (p.Ser2=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99880642T>G | CA341316275 | AGL | c.1746T>G (p.Ser582Arg) n.1957T>G c.1698T>G (p.Ser566Arg) c.1695T>G (p.Ser565Arg) c.6T>G (p.Ser2Arg) | |
1 | g.99880642T= | CA1183929010 | AGL | c.1746T= (p.Ser582=) n.1957T= c.1698T= (p.Ser566=) c.1695T= (p.Ser565=) c.6T= (p.Ser2=) | |
1 | g.99880643G>A | CA966585 | AGL | c.1747G>A (p.Ala583Thr) n.1958G>A c.1699G>A (p.Ala567Thr) c.1696G>A (p.Ala566Thr) c.7G>A (p.Ala3Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99880643G>C | CA341316279 | AGL | c.1747G>C (p.Ala583Pro) n.1958G>C c.1699G>C (p.Ala567Pro) c.1696G>C (p.Ala566Pro) c.7G>C (p.Ala3Pro) | |
1 | g.99880643G= | CA1183929011 | AGL | c.1747G= (p.Ala583=) n.1958G= c.1699G= (p.Ala567=) c.1696G= (p.Ala566=) c.7G= (p.Ala3=) | |
1 | g.99880643G>T | CA341316280 | AGL | c.1747G>T (p.Ala583Ser) n.1958G>T c.1699G>T (p.Ala567Ser) c.1696G>T (p.Ala566Ser) c.7G>T (p.Ala3Ser) | |
1 | g.99880644C>A | CA341316288 | AGL | c.1748C>A (p.Ala583Glu) n.1959C>A c.1700C>A (p.Ala567Glu) c.1697C>A (p.Ala566Glu) c.8C>A (p.Ala3Glu) | |
1 | g.99880644C>G | CA341316285 | AGL | c.1748C>G (p.Ala583Gly) n.1959C>G c.1700C>G (p.Ala567Gly) c.1697C>G (p.Ala566Gly) c.8C>G (p.Ala3Gly) | |
1 | g.99880644C>T | CA341316282 | AGL | c.1748C>T (p.Ala583Val) n.1959C>T c.1700C>T (p.Ala567Val) c.1697C>T (p.Ala566Val) c.8C>T (p.Ala3Val) | |
1 | g.99880645A= | CA1148076148 | AGL | c.1749A= (p.Ala583=) n.1960A= c.1701A= (p.Ala567=) c.1698A= (p.Ala566=) c.9A= (p.Ala3=) | |
1 | g.99880645A>C | CA419080552 | AGL | c.1749A>C (p.Ala583=) n.1960A>C c.1701A>C (p.Ala567=) c.1698A>C (p.Ala566=) c.9A>C (p.Ala3=) | |
1 | g.99880645A>G | CA966586 | AGL | c.1749A>G (p.Ala583=) n.1960A>G c.1701A>G (p.Ala567=) c.1698A>G (p.Ala566=) c.9A>G (p.Ala3=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99880645A>T | CA419080553 | AGL | c.1749A>T (p.Ala583=) n.1960A>T c.1701A>T (p.Ala567=) c.1698A>T (p.Ala566=) c.9A>T (p.Ala3=) | gnomAD v4 |
1 | g.99880646T>A | CA341316292 | AGL | c.1750T>A (p.Tyr584Asn) n.1961T>A c.1702T>A (p.Tyr568Asn) c.1699T>A (p.Tyr567Asn) c.10T>A (p.Tyr4Asn) | |
1 | g.99880646T>C | CA341316293 | AGL | c.1750T>C (p.Tyr584His) n.1961T>C c.1702T>C (p.Tyr568His) c.1699T>C (p.Tyr567His) c.10T>C (p.Tyr4His) | |
1 | g.99880646T>G | CA341316295 | AGL | c.1750T>G (p.Tyr584Asp) n.1961T>G c.1702T>G (p.Tyr568Asp) c.1699T>G (p.Tyr567Asp) c.10T>G (p.Tyr4Asp) | |
1 | g.99880647A= | CA1183929012 | AGL | c.1751A= (p.Tyr584=) n.1962A= c.1703A= (p.Tyr568=) c.1700A= (p.Tyr567=) c.11A= (p.Tyr4=) | |
1 | g.99880647A>C | CA341316296 | AGL | c.1751A>C (p.Tyr584Ser) n.1962A>C c.1703A>C (p.Tyr568Ser) c.1700A>C (p.Tyr567Ser) c.11A>C (p.Tyr4Ser) | |
1 | g.99880647A>G | CA341316298 | AGL | c.1751A>G (p.Tyr584Cys) n.1962A>G c.1703A>G (p.Tyr568Cys) c.1700A>G (p.Tyr567Cys) c.11A>G (p.Tyr4Cys) | dbSNP gnomAD v4 |
1 | g.99880647A>T | CA341316300 | AGL | c.1751A>T (p.Tyr584Phe) n.1962A>T c.1703A>T (p.Tyr568Phe) c.1700A>T (p.Tyr567Phe) c.11A>T (p.Tyr4Phe) | |
1 | g.99880648T>A | CA341316302 | AGL | c.1752T>A (p.Tyr584Ter) n.1963T>A c.1704T>A (p.Tyr568Ter) c.1701T>A (p.Tyr567Ter) c.12T>A (p.Tyr4Ter) | |
1 | g.99880648T>C | CA419080570 | AGL | c.1752T>C (p.Tyr584=) n.1963T>C c.1704T>C (p.Tyr568=) c.1701T>C (p.Tyr567=) c.12T>C (p.Tyr4=) | |
1 | g.99880648T>G | CA341316305 | AGL | c.1752T>G (p.Tyr584Ter) n.1963T>G c.1704T>G (p.Tyr568Ter) c.1701T>G (p.Tyr567Ter) c.12T>G (p.Tyr4Ter) | |
1 | g.99880649A>C | CA341316307 | AGL | c.1753A>C (p.Asn585His) n.1964A>C c.1705A>C (p.Asn569His) c.1702A>C (p.Asn568His) c.13A>C (p.Asn5His) | |
1 | g.99880649A>G | CA341316308 | AGL | c.1753A>G (p.Asn585Asp) n.1964A>G c.1705A>G (p.Asn569Asp) c.1702A>G (p.Asn568Asp) c.13A>G (p.Asn5Asp) | |
1 | g.99880649A>T | CA341316310 | AGL | c.1753A>T (p.Asn585Tyr) n.1964A>T c.1705A>T (p.Asn569Tyr) c.1702A>T (p.Asn568Tyr) c.13A>T (p.Asn5Tyr) | |
1 | g.99880650A= | CA1183929013 | AGL | c.1754A= (p.Asn585=) n.1965A= c.1706A= (p.Asn569=) c.1703A= (p.Asn568=) c.14A= (p.Asn5=) | |
1 | g.99880650A>C | CA341316318 | AGL | c.1754A>C (p.Asn585Thr) n.1965A>C c.1706A>C (p.Asn569Thr) c.1703A>C (p.Asn568Thr) c.14A>C (p.Asn5Thr) | |
1 | g.99880650A>G | CA341316316 | AGL | c.1754A>G (p.Asn585Ser) n.1965A>G c.1706A>G (p.Asn569Ser) c.1703A>G (p.Asn568Ser) c.14A>G (p.Asn5Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99880650A>T | CA341316313 | AGL | c.1754A>T (p.Asn585Ile) n.1965A>T c.1706A>T (p.Asn569Ile) c.1703A>T (p.Asn568Ile) c.14A>T (p.Asn5Ile) | |
1 | g.99880651T>A | CA341316322 | AGL | c.1755T>A (p.Asn585Lys) n.1966T>A c.1707T>A (p.Asn569Lys) c.1704T>A (p.Asn568Lys) c.15T>A (p.Asn5Lys) | |
1 | g.99880651T>C | CA27515309 | AGL | c.1755T>C (p.Asn585=) n.1966T>C c.1707T>C (p.Asn569=) c.1704T>C (p.Asn568=) c.15T>C (p.Asn5=) | ClinVar dbSNP gnomAD v4 |
1 | g.99880651T>G | CA341316324 | AGL | c.1755T>G (p.Asn585Lys) n.1966T>G c.1707T>G (p.Asn569Lys) c.1704T>G (p.Asn568Lys) c.15T>G (p.Asn5Lys) | |
1 | g.99880651T= | CA1183929014 | AGL | c.1755T= (p.Asn585=) n.1966T= c.1707T= (p.Asn569=) c.1704T= (p.Asn568=) c.15T= (p.Asn5=) | |
1 | g.99880652A>C | CA341316327 | AGL | c.1756A>C (p.Ser586Arg) n.1967A>C c.1708A>C (p.Ser570Arg) c.1705A>C (p.Ser569Arg) c.16A>C (p.Ser6Arg) | |
1 | g.99880652A>G | CA341316331 | AGL | c.1756A>G (p.Ser586Gly) n.1967A>G c.1708A>G (p.Ser570Gly) c.1705A>G (p.Ser569Gly) c.16A>G (p.Ser6Gly) | COSMIC COSMIC |
1 | g.99880652A>T | CA341316329 | AGL | c.1756A>T (p.Ser586Cys) n.1967A>T c.1708A>T (p.Ser570Cys) c.1705A>T (p.Ser569Cys) c.16A>T (p.Ser6Cys) | |
1 | g.99880653G>A | CA341316334 | AGL | c.1757G>A (p.Ser586Asn) n.1968G>A c.1709G>A (p.Ser570Asn) c.1706G>A (p.Ser569Asn) c.17G>A (p.Ser6Asn) | gnomAD v4 |
1 | g.99880653G>C | CA341316339 | AGL | c.1757G>C (p.Ser586Thr) n.1968G>C c.1709G>C (p.Ser570Thr) c.1706G>C (p.Ser569Thr) c.17G>C (p.Ser6Thr) | |
1 | g.99880653G>T | CA341316336 | AGL | c.1757G>T (p.Ser586Ile) n.1968G>T c.1709G>T (p.Ser570Ile) c.1706G>T (p.Ser569Ile) c.17G>T (p.Ser6Ile) | |
1 | g.99880654T>A | CA341316342 | AGL | c.1758T>A (p.Ser586Arg) n.1969T>A c.1710T>A (p.Ser570Arg) c.1707T>A (p.Ser569Arg) c.18T>A (p.Ser6Arg) | |
1 | g.99880654T>C | CA419080598 | AGL | c.1758T>C (p.Ser586=) n.1969T>C c.1710T>C (p.Ser570=) c.1707T>C (p.Ser569=) c.18T>C (p.Ser6=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99880654T>G | CA341316344 | AGL | c.1758T>G (p.Ser586Arg) n.1969T>G c.1710T>G (p.Ser570Arg) c.1707T>G (p.Ser569Arg) c.18T>G (p.Ser6Arg) | |
1 | g.99880654T= | CA1183929015 | AGL | c.1758T= (p.Ser586=) n.1969T= c.1710T= (p.Ser570=) c.1707T= (p.Ser569=) c.18T= (p.Ser6=) | |
1 | g.99880655C>A | CA27515329 | AGL | c.1759C>A (p.His587Asn) n.1970C>A c.1711C>A (p.His571Asn) c.1708C>A (p.His570Asn) c.19C>A (p.His7Asn) | dbSNP |
1 | g.99880655C= | CA1141683245 | AGL | c.1759C= (p.His587=) n.1970C= c.1711C= (p.His571=) c.1708C= (p.His570=) c.19C= (p.His7=) | |
1 | g.99880655C>G | CA341316348 | AGL | c.1759C>G (p.His587Asp) n.1970C>G c.1711C>G (p.His571Asp) c.1708C>G (p.His570Asp) c.19C>G (p.His7Asp) | COSMIC COSMIC |
1 | g.99880655C>T | CA966587 | AGL | c.1759C>T (p.His587Tyr) n.1970C>T c.1711C>T (p.His571Tyr) c.1708C>T (p.His570Tyr) c.19C>T (p.His7Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99880656A= | CA1183929016 | AGL | c.1760A= (p.His587=) n.1971A= c.1712A= (p.His571=) c.1709A= (p.His570=) c.20A= (p.His7=) | |
1 | g.99880656A>C | CA341316353 | AGL | c.1760A>C (p.His587Pro) n.1971A>C c.1712A>C (p.His571Pro) c.1709A>C (p.His570Pro) c.20A>C (p.His7Pro) | |
1 | g.99880656A>G | CA341316354 | AGL | c.1760A>G (p.His587Arg) n.1971A>G c.1712A>G (p.His571Arg) c.1709A>G (p.His570Arg) c.20A>G (p.His7Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99880656A>T | CA341316357 | AGL | c.1760A>T (p.His587Leu) n.1971A>T c.1712A>T (p.His571Leu) c.1709A>T (p.His570Leu) c.20A>T (p.His7Leu) | |
1 | g.99880657T>A | CA341316360 | AGL | c.1761T>A (p.His587Gln) n.1972T>A c.1713T>A (p.His571Gln) c.1710T>A (p.His570Gln) c.21T>A (p.His7Gln) | gnomAD v4 |
1 | g.99880657T>C | CA966588 | AGL | c.1761T>C (p.His587=) n.1972T>C c.1713T>C (p.His571=) c.1710T>C (p.His570=) c.21T>C (p.His7=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99880657T>G | CA341316364 | AGL | c.1761T>G (p.His587Gln) n.1972T>G c.1713T>G (p.His571Gln) c.1710T>G (p.His570Gln) c.21T>G (p.His7Gln) | |
1 | g.99880657T= | CA1183929017 | AGL | c.1761T= (p.His587=) n.1972T= c.1713T= (p.His571=) c.1710T= (p.His570=) c.21T= (p.His7=) | |
1 | g.99880658G>A | CA341316367 | AGL | c.1762G>A (p.Glu588Lys) n.1973G>A c.1714G>A (p.Glu572Lys) c.1711G>A (p.Glu571Lys) c.22G>A (p.Glu8Lys) | dbSNP |
1 | g.99880658G>C | CA341316370 | AGL | c.1762G>C (p.Glu588Gln) n.1973G>C c.1714G>C (p.Glu572Gln) c.1711G>C (p.Glu571Gln) c.22G>C (p.Glu8Gln) | |
1 | g.99880658G= | CA1183929018 | AGL | c.1762G= (p.Glu588=) n.1973G= c.1714G= (p.Glu572=) c.1711G= (p.Glu571=) c.22G= (p.Glu8=) | |
1 | g.99880658G>T | CA341316372 | AGL | c.1762G>T (p.Glu588Ter) n.1973G>T c.1714G>T (p.Glu572Ter) c.1711G>T (p.Glu571Ter) c.22G>T (p.Glu8Ter) | |
1 | g.99880659A>C | CA341316380 | AGL | c.1763A>C (p.Glu588Ala) n.1974A>C c.1715A>C (p.Glu572Ala) c.1712A>C (p.Glu571Ala) c.23A>C (p.Glu8Ala) | |
1 | g.99880659A>G | CA341316375 | AGL | c.1763A>G (p.Glu588Gly) n.1974A>G c.1715A>G (p.Glu572Gly) c.1712A>G (p.Glu571Gly) c.23A>G (p.Glu8Gly) | |
1 | g.99880659A>T | CA341316377 | AGL | c.1763A>T (p.Glu588Val) n.1974A>T c.1715A>T (p.Glu572Val) c.1712A>T (p.Glu571Val) c.23A>T (p.Glu8Val) | |
1 | g.99880660A>C | CA341316382 | AGL | c.1764A>C (p.Glu588Asp) n.1975A>C c.1716A>C (p.Glu572Asp) c.1713A>C (p.Glu571Asp) c.24A>C (p.Glu8Asp) | |
1 | g.99880660A>G | CA419080615 | AGL | c.1764A>G (p.Glu588=) n.1975A>G c.1716A>G (p.Glu572=) c.1713A>G (p.Glu571=) c.24A>G (p.Glu8=) | |
1 | g.99880660A>T | CA341316384 | AGL | c.1764A>T (p.Glu588Asp) n.1975A>T c.1716A>T (p.Glu572Asp) c.1713A>T (p.Glu571Asp) c.24A>T (p.Glu8Asp) | |
1 | g.99880661G>A | CA341316387 | AGL | c.1765G>A (p.Glu589Lys) n.1976G>A c.1717G>A (p.Glu573Lys) c.1714G>A (p.Glu572Lys) c.25G>A (p.Glu9Lys) | |
1 | g.99880661G>C | CA341316389 | AGL | c.1765G>C (p.Glu589Gln) n.1976G>C c.1717G>C (p.Glu573Gln) c.1714G>C (p.Glu572Gln) c.25G>C (p.Glu9Gln) | gnomAD v4 |
1 | g.99880661G>T | CA341316391 | AGL | c.1765G>T (p.Glu589Ter) n.1976G>T c.1717G>T (p.Glu573Ter) c.1714G>T (p.Glu572Ter) c.25G>T (p.Glu9Ter) | gnomAD v4 |
1 | g.99880662A>C | CA341316394 | AGL | c.1766A>C (p.Glu589Ala) n.1977A>C c.1718A>C (p.Glu573Ala) c.1715A>C (p.Glu572Ala) c.26A>C (p.Glu9Ala) | |
1 | g.99880662A>G | CA341316395 | AGL | c.1766A>G (p.Glu589Gly) n.1977A>G c.1718A>G (p.Glu573Gly) c.1715A>G (p.Glu572Gly) c.26A>G (p.Glu9Gly) | |
1 | g.99880662A>T | CA341316397 | AGL | c.1766A>T (p.Glu589Val) n.1977A>T c.1718A>T (p.Glu573Val) c.1715A>T (p.Glu572Val) c.26A>T (p.Glu9Val) | |
1 | g.99880663G>A | CA419080630 | AGL | c.1767G>A (p.Glu589=) n.1978G>A c.1719G>A (p.Glu573=) c.1716G>A (p.Glu572=) c.27G>A (p.Glu9=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99880663G>C | CA966589 | AGL | c.1767G>C (p.Glu589Asp) n.1978G>C c.1719G>C (p.Glu573Asp) c.1716G>C (p.Glu572Asp) c.27G>C (p.Glu9Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99880663G= | CA1142120948 | AGL | c.1767G= (p.Glu589=) n.1978G= c.1719G= (p.Glu573=) c.1716G= (p.Glu572=) c.27G= (p.Glu9=) | |
1 | g.99880663G>T | CA341316402 | AGL | c.1767G>T (p.Glu589Asp) n.1978G>T c.1719G>T (p.Glu573Asp) c.1716G>T (p.Glu572Asp) c.27G>T (p.Glu9Asp) | |
1 | g.99880664G>A | CA341316407 | AGL | c.1768G>A (p.Gly590Ser) n.1979G>A c.1720G>A (p.Gly574Ser) c.1717G>A (p.Gly573Ser) c.28G>A (p.Gly10Ser) | ClinVar dbSNP gnomAD v4 |
1 | g.99880664G>C | CA341316405 | AGL | c.1768G>C (p.Gly590Arg) n.1979G>C c.1720G>C (p.Gly574Arg) c.1717G>C (p.Gly573Arg) c.28G>C (p.Gly10Arg) | |
1 | g.99880664G= | CA1183929019 | AGL | c.1768G= (p.Gly590=) n.1979G= c.1720G= (p.Gly574=) c.1717G= (p.Gly573=) c.28G= (p.Gly10=) | |
1 | g.99880664G>T | CA341316403 | AGL | c.1768G>T (p.Gly590Cys) n.1979G>T c.1720G>T (p.Gly574Cys) c.1717G>T (p.Gly573Cys) c.28G>T (p.Gly10Cys) | |
1 | g.99880665G>A | CA341316409 | AGL | c.1769G>A (p.Gly590Asp) n.1980G>A c.1721G>A (p.Gly574Asp) c.1718G>A (p.Gly573Asp) c.29G>A (p.Gly10Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99880665G>C | CA341316410 | AGL | c.1769G>C (p.Gly590Ala) n.1980G>C c.1721G>C (p.Gly574Ala) c.1718G>C (p.Gly573Ala) c.29G>C (p.Gly10Ala) | COSMIC |
1 | g.99880665G= | CA1183929020 | AGL | c.1769G= (p.Gly590=) n.1980G= c.1721G= (p.Gly574=) c.1718G= (p.Gly573=) c.29G= (p.Gly10=) | |
1 | g.99880665G>T | CA341316411 | AGL | c.1769G>T (p.Gly590Val) n.1980G>T c.1721G>T (p.Gly574Val) c.1718G>T (p.Gly573Val) c.29G>T (p.Gly10Val) | |
1 | g.99880666C>A | CA419080639 | AGL | c.1770C>A (p.Gly590=) n.1981C>A c.1722C>A (p.Gly574=) c.1719C>A (p.Gly573=) c.30C>A (p.Gly10=) | |
1 | g.99880666C= | CA1183929021 | AGL | c.1770C= (p.Gly590=) n.1981C= c.1722C= (p.Gly574=) c.1719C= (p.Gly573=) c.30C= (p.Gly10=) | |
1 | g.99880666C>G | CA419080643 | AGL | c.1770C>G (p.Gly590=) n.1981C>G c.1722C>G (p.Gly574=) c.1719C>G (p.Gly573=) c.30C>G (p.Gly10=) | |
1 | g.99880666C>T | CA419080650 | AGL | c.1770C>T (p.Gly590=) n.1981C>T c.1722C>T (p.Gly574=) c.1719C>T (p.Gly573=) c.30C>T (p.Gly10=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99880667A>C | CA419080654 | AGL | c.1771A>C (p.Arg591=) n.1982A>C c.1723A>C (p.Arg575=) c.1720A>C (p.Arg574=) c.31A>C (p.Arg11=) | |
1 | g.99880667A>G | CA341316414 | AGL | c.1771A>G (p.Arg591Gly) n.1982A>G c.1723A>G (p.Arg575Gly) c.1720A>G (p.Arg574Gly) c.31A>G (p.Arg11Gly) | |
1 | g.99880667A>T | CA341316417 | AGL | c.1771A>T (p.Arg591Ter) n.1982A>T c.1723A>T (p.Arg575Ter) c.1720A>T (p.Arg574Ter) c.31A>T (p.Arg11Ter) | |
1 | g.99880668G>A | CA341316420 | AGL | c.1772G>A (p.Arg591Lys) n.1983G>A c.1724G>A (p.Arg575Lys) c.1721G>A (p.Arg574Lys) c.32G>A (p.Arg11Lys) | dbSNP |
1 | g.99880668G>C | CA341316421 | AGL | c.1772G>C (p.Arg591Thr) n.1983G>C c.1724G>C (p.Arg575Thr) c.1721G>C (p.Arg574Thr) c.32G>C (p.Arg11Thr) | |
1 | g.99880668G= | CA1183929022 | AGL | c.1772G= (p.Arg591=) n.1983G= c.1724G= (p.Arg575=) c.1721G= (p.Arg574=) c.32G= (p.Arg11=) | |
1 | g.99880668G>T | CA341316422 | AGL | c.1772G>T (p.Arg591Ile) n.1983G>T c.1724G>T (p.Arg575Ile) c.1721G>T (p.Arg574Ile) c.32G>T (p.Arg11Ile) | |
1 | g.99880669A>C | CA341316425 | AGL | c.1773A>C (p.Arg591Ser) n.1984A>C c.1725A>C (p.Arg575Ser) c.1722A>C (p.Arg574Ser) c.33A>C (p.Arg11Ser) | |
1 | g.99880669A>G | CA419080659 | AGL | c.1773A>G (p.Arg591=) n.1984A>G c.1725A>G (p.Arg575=) c.1722A>G (p.Arg574=) c.33A>G (p.Arg11=) | |
1 | g.99880669A>T | CA341316427 | AGL | c.1773A>T (p.Arg591Ser) n.1984A>T c.1725A>T (p.Arg575Ser) c.1722A>T (p.Arg574Ser) c.33A>T (p.Arg11Ser) | |
1 | g.99880670T>A | CA341316429 | AGL | c.1774T>A (p.Leu592Ile) n.1985T>A c.1726T>A (p.Leu576Ile) c.1723T>A (p.Leu575Ile) c.34T>A (p.Leu12Ile) | |
1 | g.99880670T>C | CA419080694 | AGL | c.1774T>C (p.Leu592=) n.1985T>C c.1726T>C (p.Leu576=) c.1723T>C (p.Leu575=) c.34T>C (p.Leu12=) | |
1 | g.99880670T>G | CA341316432 | AGL | c.1774T>G (p.Leu592Val) n.1985T>G c.1726T>G (p.Leu576Val) c.1723T>G (p.Leu575Val) c.34T>G (p.Leu12Val) | |
1 | g.99880671T>A | CA341316441 | AGL | c.1775T>A (p.Leu592Ter) n.1986T>A c.1727T>A (p.Leu576Ter) c.1724T>A (p.Leu575Ter) c.35T>A (p.Leu12Ter) | |
1 | g.99880671T>C | CA341316435 | AGL | c.1775T>C (p.Leu592Ser) n.1986T>C c.1727T>C (p.Leu576Ser) c.1724T>C (p.Leu575Ser) c.35T>C (p.Leu12Ser) | |
1 | g.99880671T>G | CA341316438 | AGL | c.1775T>G (p.Leu592Ter) n.1986T>G c.1727T>G (p.Leu576Ter) c.1724T>G (p.Leu575Ter) c.35T>G (p.Leu12Ter) | dbSNP |
1 | g.99880671T= | CA1183929023 | AGL | c.1775T= (p.Leu592=) n.1986T= c.1727T= (p.Leu576=) c.1724T= (p.Leu575=) c.35T= (p.Leu12=) | |
1 | g.99880672A>C | CA341316443 | AGL | c.1776A>C (p.Leu592Phe) n.1987A>C c.1728A>C (p.Leu576Phe) c.1725A>C (p.Leu575Phe) c.36A>C (p.Leu12Phe) | |
1 | g.99880672A>G | CA419080702 | AGL | c.1776A>G (p.Leu592=) n.1987A>G c.1728A>G (p.Leu576=) c.1725A>G (p.Leu575=) c.36A>G (p.Leu12=) | |
1 | g.99880672A>T | CA341316446 | AGL | c.1776A>T (p.Leu592Phe) n.1987A>T c.1728A>T (p.Leu576Phe) c.1725A>T (p.Leu575Phe) c.36A>T (p.Leu12Phe) | gnomAD v4 |
1 | g.99880673G>A | CA341316448 | AGL | c.1777G>A (p.Val593Ile) n.1988G>A c.1729G>A (p.Val577Ile) c.1726G>A (p.Val576Ile) c.37G>A (p.Val13Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99880673G>C | CA341316449 | AGL | c.1777G>C (p.Val593Leu) n.1988G>C c.1729G>C (p.Val577Leu) c.1726G>C (p.Val576Leu) c.37G>C (p.Val13Leu) | ClinVar dbSNP |
1 | g.99880673G= | CA1183929024 | AGL | c.1777G= (p.Val593=) n.1988G= c.1729G= (p.Val577=) c.1726G= (p.Val576=) c.37G= (p.Val13=) | |
1 | g.99880673G>T | CA341316452 | AGL | c.1777G>T (p.Val593Phe) n.1988G>T c.1729G>T (p.Val577Phe) c.1726G>T (p.Val576Phe) c.37G>T (p.Val13Phe) | |
1 | g.99880674T>A | CA341316456 | AGL | c.1778T>A (p.Val593Asp) n.1989T>A c.1730T>A (p.Val577Asp) c.1727T>A (p.Val576Asp) c.38T>A (p.Val13Asp) | |
1 | g.99880674T>C | CA966590 | AGL | c.1778T>C (p.Val593Ala) n.1989T>C c.1730T>C (p.Val577Ala) c.1727T>C (p.Val576Ala) c.38T>C (p.Val13Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99880674T>G | CA341316459 | AGL | c.1778T>G (p.Val593Gly) n.1989T>G c.1730T>G (p.Val577Gly) c.1727T>G (p.Val576Gly) c.38T>G (p.Val13Gly) | |
1 | g.99880674T= | CA1183929025 | AGL | c.1778T= (p.Val593=) n.1989T= c.1730T= (p.Val577=) c.1727T= (p.Val576=) c.38T= (p.Val13=) | |
1 | g.99880675T>A | CA419080725 | AGL | c.1779T>A (p.Val593=) n.1990T>A c.1731T>A (p.Val577=) c.1728T>A (p.Val576=) c.39T>A (p.Val13=) | COSMIC |
1 | g.99880675T>C | CA419080721 | AGL | c.1779T>C (p.Val593=) n.1990T>C c.1731T>C (p.Val577=) c.1728T>C (p.Val576=) c.39T>C (p.Val13=) | |
1 | g.99880675T>G | CA419080720 | AGL | c.1779T>G (p.Val593=) n.1990T>G c.1731T>G (p.Val577=) c.1728T>G (p.Val576=) c.39T>G (p.Val13=) | |
1 | g.99880676T>A | CA341316462 | AGL | c.1780T>A (p.Tyr594Asn) n.1991T>A c.1732T>A (p.Tyr578Asn) c.1729T>A (p.Tyr577Asn) c.40T>A (p.Tyr14Asn) | |
1 | g.99880676T>C | CA341316464 | AGL | c.1780T>C (p.Tyr594His) n.1991T>C c.1732T>C (p.Tyr578His) c.1729T>C (p.Tyr577His) c.40T>C (p.Tyr14His) | |
1 | g.99880676T>G | CA341316466 | AGL | c.1780T>G (p.Tyr594Asp) n.1991T>G c.1732T>G (p.Tyr578Asp) c.1729T>G (p.Tyr577Asp) c.40T>G (p.Tyr14Asp) | |
1 | g.99880677A= | CA1183929026 | AGL | c.1781A= (p.Tyr594=) n.1992A= c.1733A= (p.Tyr578=) c.1730A= (p.Tyr577=) c.41A= (p.Tyr14=) | |
1 | g.99880677A>C | CA341316473 | AGL | c.1781A>C (p.Tyr594Ser) n.1992A>C c.1733A>C (p.Tyr578Ser) c.1730A>C (p.Tyr577Ser) c.41A>C (p.Tyr14Ser) | |
1 | g.99880677A>G | CA966591 | AGL | c.1781A>G (p.Tyr594Cys) n.1992A>G c.1733A>G (p.Tyr578Cys) c.1730A>G (p.Tyr577Cys) c.41A>G (p.Tyr14Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99880677A>T | CA341316470 | AGL | c.1781A>T (p.Tyr594Phe) n.1992A>T c.1733A>T (p.Tyr578Phe) c.1730A>T (p.Tyr577Phe) c.41A>T (p.Tyr14Phe) | |
1 | g.99880678C>A | CA16040832 | AGL | c.1782C>A (p.Tyr594Ter) n.1993C>A c.1734C>A (p.Tyr578Ter) c.1731C>A (p.Tyr577Ter) c.42C>A (p.Tyr14Ter) | ClinVar dbSNP |
1 | g.99880678C= | CA1183929027 | AGL | c.1782C= (p.Tyr594=) n.1993C= c.1734C= (p.Tyr578=) c.1731C= (p.Tyr577=) c.42C= (p.Tyr14=) | |
1 | g.99880678C>G | CA341316475 | AGL | c.1782C>G (p.Tyr594Ter) n.1993C>G c.1734C>G (p.Tyr578Ter) c.1731C>G (p.Tyr577Ter) c.42C>G (p.Tyr14Ter) | |
1 | g.99880678C>T | CA419080736 | AGL | c.1782C>T (p.Tyr594=) n.1993C>T c.1734C>T (p.Tyr578=) c.1731C>T (p.Tyr577=) c.42C>T (p.Tyr14=) | |
1 | g.99880679C>A | CA419080737 | AGL | c.1783C>A (p.Arg595=) n.1994C>A c.1735C>A (p.Arg579=) c.1732C>A (p.Arg578=) c.43C>A (p.Arg15=) | |
1 | g.99880679C= | CA1183929028 | AGL | c.1783C= (p.Arg595=) n.1994C= c.1735C= (p.Arg579=) c.1732C= (p.Arg578=) c.43C= (p.Arg15=) | |
1 | g.99880679C>G | CA341316476 | AGL | c.1783C>G (p.Arg595Gly) n.1994C>G c.1735C>G (p.Arg579Gly) c.1732C>G (p.Arg578Gly) c.43C>G (p.Arg15Gly) | |
1 | g.99880679C>T | CA966592 | AGL | c.1783C>T (p.Arg595Ter) n.1994C>T c.1735C>T (p.Arg579Ter) c.1732C>T (p.Arg578Ter) c.43C>T (p.Arg15Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99880680G>A | CA966593 | AGL | c.1784G>A (p.Arg595Gln) n.1995G>A c.1736G>A (p.Arg579Gln) c.1733G>A (p.Arg578Gln) c.44G>A (p.Arg15Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99880680G>C | CA341316480 | AGL | c.1784G>C (p.Arg595Pro) n.1995G>C c.1736G>C (p.Arg579Pro) c.1733G>C (p.Arg578Pro) c.44G>C (p.Arg15Pro) | gnomAD v4 |
1 | g.99880680G= | CA1183929029 | AGL | c.1784G= (p.Arg595=) n.1995G= c.1736G= (p.Arg579=) c.1733G= (p.Arg578=) c.44G= (p.Arg15=) | |
1 | g.99880680G>T | CA341316482 | AGL | c.1784G>T (p.Arg595Leu) n.1995G>T c.1736G>T (p.Arg579Leu) c.1733G>T (p.Arg578Leu) c.44G>T (p.Arg15Leu) | gnomAD v4 |
1 | g.99880681A>C | CA419080746 | AGL | c.1785A>C (p.Arg595=) n.1996A>C c.1737A>C (p.Arg579=) c.1734A>C (p.Arg578=) c.45A>C (p.Arg15=) | |
1 | g.99880681A>G | CA419080757 | AGL | c.1785A>G (p.Arg595=) n.1996A>G c.1737A>G (p.Arg579=) c.1734A>G (p.Arg578=) c.45A>G (p.Arg15=) | ClinVar |
1 | g.99880681A>T | CA419080756 | AGL | c.1785A>T (p.Arg595=) n.1996A>T c.1737A>T (p.Arg579=) c.1734A>T (p.Arg578=) c.45A>T (p.Arg15=) | |
1 | g.99880682T>A | CA341316485 | AGL | c.1786T>A (p.Tyr596Asn) n.1997T>A c.1738T>A (p.Tyr580Asn) c.1735T>A (p.Tyr579Asn) c.46T>A (p.Tyr16Asn) | |
1 | g.99880682T>C | CA966594 | AGL | c.1786T>C (p.Tyr596His) n.1997T>C c.1738T>C (p.Tyr580His) c.1735T>C (p.Tyr579His) c.46T>C (p.Tyr16His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99880682T>G | CA341316487 | AGL | c.1786T>G (p.Tyr596Asp) n.1997T>G c.1738T>G (p.Tyr580Asp) c.1735T>G (p.Tyr579Asp) c.46T>G (p.Tyr16Asp) | |
1 | g.99880682T= | CA1183929030 | AGL | c.1786T= (p.Tyr596=) n.1997T= c.1738T= (p.Tyr580=) c.1735T= (p.Tyr579=) c.46T= (p.Tyr16=) | |
1 | g.99880683A= | CA1183929031 | AGL | c.1787A= (p.Tyr596=) n.1998A= c.1739A= (p.Tyr580=) c.1736A= (p.Tyr579=) c.47A= (p.Tyr16=) | |
1 | g.99880683A>C | CA341316492 | AGL | c.1787A>C (p.Tyr596Ser) n.1998A>C c.1739A>C (p.Tyr580Ser) c.1736A>C (p.Tyr579Ser) c.47A>C (p.Tyr16Ser) | COSMIC COSMIC |
1 | g.99880683A>G | CA341316494 | AGL | c.1787A>G (p.Tyr596Cys) n.1998A>G c.1739A>G (p.Tyr580Cys) c.1736A>G (p.Tyr579Cys) c.47A>G (p.Tyr16Cys) | gnomAD v4 |
1 | g.99880683A>T | CA341316495 | AGL | c.1787A>T (p.Tyr596Phe) n.1998A>T c.1739A>T (p.Tyr580Phe) c.1736A>T (p.Tyr579Phe) c.47A>T (p.Tyr16Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99880684T>A | CA341316501 | AGL | c.1788T>A (p.Tyr596Ter) n.1999T>A c.1740T>A (p.Tyr580Ter) c.1737T>A (p.Tyr579Ter) c.48T>A (p.Tyr16Ter) | ClinVar |
1 | g.99880684T>C | CA966595 | AGL | c.1788T>C (p.Tyr596=) n.1999T>C c.1740T>C (p.Tyr580=) c.1737T>C (p.Tyr579=) c.48T>C (p.Tyr16=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99880684T>G | CA341316498 | AGL | c.1788T>G (p.Tyr596Ter) n.1999T>G c.1740T>G (p.Tyr580Ter) c.1737T>G (p.Tyr579Ter) c.48T>G (p.Tyr16Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.99880684T= | CA1183929032 | AGL | c.1788T= (p.Tyr596=) n.1999T= c.1740T= (p.Tyr580=) c.1737T= (p.Tyr579=) c.48T= (p.Tyr16=) | |
1 | g.99880685G>A | CA341316504 | AGL | c.1789G>A (p.Gly597Arg) n.2000G>A c.1741G>A (p.Gly581Arg) c.1738G>A (p.Gly580Arg) c.49G>A (p.Gly17Arg) | dbSNP |
1 | g.99880685G>C | CA341316507 | AGL | c.1789G>C (p.Gly597Arg) n.2000G>C c.1741G>C (p.Gly581Arg) c.1738G>C (p.Gly580Arg) c.49G>C (p.Gly17Arg) | |
1 | g.99880685G= | CA1183929033 | AGL | c.1789G= (p.Gly597=) n.2000G= c.1741G= (p.Gly581=) c.1738G= (p.Gly580=) c.49G= (p.Gly17=) | |
1 | g.99880685G>T | CA341316509 | AGL | c.1789G>T (p.Gly597Ter) n.2000G>T c.1741G>T (p.Gly581Ter) c.1738G>T (p.Gly580Ter) c.49G>T (p.Gly17Ter) | |
1 | g.99880689_99880691del | CA2574444576 | AGL | c.1793_1795del (p.Gly598del) n.2004_2006del c.1745_1747del (p.Gly582del) c.1742_1744del (p.Gly581del) c.53_55del (p.Gly18del) | |
1 | g.99880686G>A | CA341316511 | AGL | c.1790G>A (p.Gly597Glu) n.2001G>A c.1742G>A (p.Gly581Glu) c.1739G>A (p.Gly580Glu) c.50G>A (p.Gly17Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99880686G>C | CA341316513 | AGL | c.1790G>C (p.Gly597Ala) n.2001G>C c.1742G>C (p.Gly581Ala) c.1739G>C (p.Gly580Ala) c.50G>C (p.Gly17Ala) | |
1 | g.99880686G= | CA1183929034 | AGL | c.1790G= (p.Gly597=) n.2001G= c.1742G= (p.Gly581=) c.1739G= (p.Gly580=) c.50G= (p.Gly17=) | |
1 | g.99880686G>T | CA341316515 | AGL | c.1790G>T (p.Gly597Val) n.2001G>T c.1742G>T (p.Gly581Val) c.1739G>T (p.Gly580Val) c.50G>T (p.Gly17Val) | |
1 | g.99880687A>C | CA419080784 | AGL | c.1791A>C (p.Gly597=) n.2002A>C c.1743A>C (p.Gly581=) c.1740A>C (p.Gly580=) c.51A>C (p.Gly17=) | |
1 | g.99880687A>G | CA419080788 | AGL | c.1791A>G (p.Gly597=) n.2002A>G c.1743A>G (p.Gly581=) c.1740A>G (p.Gly580=) c.51A>G (p.Gly17=) | |
1 | g.99880687A>T | CA419080794 | AGL | c.1791A>T (p.Gly597=) n.2002A>T c.1743A>T (p.Gly581=) c.1740A>T (p.Gly580=) c.51A>T (p.Gly17=) | |
1 | g.99880688G>A | CA341316518 | AGL | c.1792G>A (p.Gly598Arg) n.2003G>A c.1744G>A (p.Gly582Arg) c.1741G>A (p.Gly581Arg) c.52G>A (p.Gly18Arg) | gnomAD v4 |
1 | g.99880688G>C | CA966596 | AGL | c.1792G>C (p.Gly598Arg) n.2003G>C c.1744G>C (p.Gly582Arg) c.1741G>C (p.Gly581Arg) c.52G>C (p.Gly18Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99880688G= | CA1183929035 | AGL | c.1792G= (p.Gly598=) n.2003G= c.1744G= (p.Gly582=) c.1741G= (p.Gly581=) c.52G= (p.Gly18=) | |
1 | g.99880688G>T | CA341316521 | AGL | c.1792G>T (p.Gly598Ter) n.2003G>T c.1744G>T (p.Gly582Ter) c.1741G>T (p.Gly581Ter) c.52G>T (p.Gly18Ter) | |
1 | g.99880689G>A | CA341316524 | AGL | c.1793G>A (p.Gly598Glu) n.2004G>A c.1745G>A (p.Gly582Glu) c.1742G>A (p.Gly581Glu) c.53G>A (p.Gly18Glu) | |
1 | g.99880689G>C | CA341316529 | AGL | c.1793G>C (p.Gly598Ala) n.2004G>C c.1745G>C (p.Gly582Ala) c.1742G>C (p.Gly581Ala) c.53G>C (p.Gly18Ala) | |
1 | g.99880689G>T | CA341316531 | AGL | c.1793G>T (p.Gly598Val) n.2004G>T c.1745G>T (p.Gly582Val) c.1742G>T (p.Gly581Val) c.53G>T (p.Gly18Val) | |
1 | g.99880690A= | CA1183929036 | AGL | c.1794A= (p.Gly598=) n.2005A= c.1746A= (p.Gly582=) c.1743A= (p.Gly581=) c.54A= (p.Gly18=) | |
1 | g.99880690A>C | CA419080806 | AGL | c.1794A>C (p.Gly598=) n.2005A>C c.1746A>C (p.Gly582=) c.1743A>C (p.Gly581=) c.54A>C (p.Gly18=) | |
1 | g.99880690A>G | CA419080807 | AGL | c.1794A>G (p.Gly598=) n.2005A>G c.1746A>G (p.Gly582=) c.1743A>G (p.Gly581=) c.54A>G (p.Gly18=) | ClinVar dbSNP |
1 | g.99880690A>T | CA419080809 | AGL | c.1794A>T (p.Gly598=) n.2005A>T c.1746A>T (p.Gly582=) c.1743A>T (p.Gly581=) c.54A>T (p.Gly18=) | |
1 | g.99880691G>A | CA341316537 | AGL | c.1795G>A (p.Glu599Lys) n.2006G>A c.1747G>A (p.Glu583Lys) c.1744G>A (p.Glu582Lys) c.55G>A (p.Glu19Lys) | |
1 | g.99880691G>C | CA341316534 | AGL | c.1795G>C (p.Glu599Gln) n.2006G>C c.1747G>C (p.Glu583Gln) c.1744G>C (p.Glu582Gln) c.55G>C (p.Glu19Gln) | |
1 | g.99880691G>T | CA341316533 | AGL | c.1795G>T (p.Glu599Ter) n.2006G>T c.1747G>T (p.Glu583Ter) c.1744G>T (p.Glu582Ter) c.55G>T (p.Glu19Ter) | |
1 | g.99880692A>C | CA341316540 | AGL | c.1796A>C (p.Glu599Ala) n.2007A>C c.1748A>C (p.Glu583Ala) c.1745A>C (p.Glu582Ala) c.56A>C (p.Glu19Ala) | |
1 | g.99880692A>G | CA341316542 | AGL | c.1796A>G (p.Glu599Gly) n.2007A>G c.1748A>G (p.Glu583Gly) c.1745A>G (p.Glu582Gly) c.56A>G (p.Glu19Gly) | gnomAD v4 |
1 | g.99880692A>T | CA341316545 | AGL | c.1796A>T (p.Glu599Val) n.2007A>T c.1748A>T (p.Glu583Val) c.1745A>T (p.Glu582Val) c.56A>T (p.Glu19Val) | |
1 | g.99880693A= | CA1183929037 | AGL | c.1797A= (p.Glu599=) n.2008A= c.1749A= (p.Glu583=) c.1746A= (p.Glu582=) c.57A= (p.Glu19=) | |
1 | g.99880693A>C | CA341316548 | AGL | c.1797A>C (p.Glu599Asp) n.2008A>C c.1749A>C (p.Glu583Asp) c.1746A>C (p.Glu582Asp) c.57A>C (p.Glu19Asp) | |
1 | g.99880693A>G | CA966597 | AGL | c.1797A>G (p.Glu599=) n.2008A>G c.1749A>G (p.Glu583=) c.1746A>G (p.Glu582=) c.57A>G (p.Glu19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99880693A>T | CA341316552 | AGL | c.1797A>T (p.Glu599Asp) n.2008A>T c.1749A>T (p.Glu583Asp) c.1746A>T (p.Glu582Asp) c.57A>T (p.Glu19Asp) | |
1 | g.99880694C>A | CA341316559 | AGL | c.1798C>A (p.Pro600Thr) n.2009C>A c.1750C>A (p.Pro584Thr) c.1747C>A (p.Pro583Thr) c.58C>A (p.Pro20Thr) | |
1 | g.99880694C>G | CA341316561 | AGL | c.1798C>G (p.Pro600Ala) n.2009C>G c.1750C>G (p.Pro584Ala) c.1747C>G (p.Pro583Ala) c.58C>G (p.Pro20Ala) | |
1 | g.99880694C>T | CA341316564 | AGL | c.1798C>T (p.Pro600Ser) n.2009C>T c.1750C>T (p.Pro584Ser) c.1747C>T (p.Pro583Ser) c.58C>T (p.Pro20Ser) | |
1 | g.99880695C>A | CA341316568 | AGL | c.1799C>A (p.Pro600His) n.2010C>A c.1751C>A (p.Pro584His) c.1748C>A (p.Pro583His) c.59C>A (p.Pro20His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99880695C= | CA1183929038 | AGL | c.1799C= (p.Pro600=) n.2010C= c.1751C= (p.Pro584=) c.1748C= (p.Pro583=) c.59C= (p.Pro20=) | |
1 | g.99880695C>G | CA341316569 | AGL | c.1799C>G (p.Pro600Arg) n.2010C>G c.1751C>G (p.Pro584Arg) c.1748C>G (p.Pro583Arg) c.59C>G (p.Pro20Arg) | |
1 | g.99880695C>T | CA341316571 | AGL | c.1799C>T (p.Pro600Leu) n.2010C>T c.1751C>T (p.Pro584Leu) c.1748C>T (p.Pro583Leu) c.59C>T (p.Pro20Leu) | dbSNP gnomAD v4 |
1 | g.99880696T>A | CA419080821 | AGL | c.1800T>A (p.Pro600=) n.2011T>A c.1752T>A (p.Pro584=) c.1749T>A (p.Pro583=) c.60T>A (p.Pro20=) | gnomAD v4 |
1 | g.99880696T>C | CA419080825 | AGL | c.1800T>C (p.Pro600=) n.2011T>C c.1752T>C (p.Pro584=) c.1749T>C (p.Pro583=) c.60T>C (p.Pro20=) | ClinVar gnomAD v4 |
1 | g.99880696T>G | CA419080826 | AGL | c.1800T>G (p.Pro600=) n.2011T>G c.1752T>G (p.Pro584=) c.1749T>G (p.Pro583=) c.60T>G (p.Pro20=) | ClinVar |
1 | g.99880697G>A | CA341316578 | AGL | c.1801G>A (p.Val601Ile) n.2012G>A c.1753G>A (p.Val585Ile) c.1750G>A (p.Val584Ile) c.61G>A (p.Val21Ile) | |
1 | g.99880697G>C | CA341316574 | AGL | c.1801G>C (p.Val601Leu) n.2012G>C c.1753G>C (p.Val585Leu) c.1750G>C (p.Val584Leu) c.61G>C (p.Val21Leu) | gnomAD v4 |
1 | g.99880697G>T | CA341316576 | AGL | c.1801G>T (p.Val601Phe) n.2012G>T c.1753G>T (p.Val585Phe) c.1750G>T (p.Val584Phe) c.61G>T (p.Val21Phe) | |
1 | g.99880698T>A | CA341316581 | AGL | c.1802T>A (p.Val601Asp) n.2013T>A c.1754T>A (p.Val585Asp) c.1751T>A (p.Val584Asp) c.62T>A (p.Val21Asp) | |
1 | g.99880698T>C | CA341316584 | AGL | c.1802T>C (p.Val601Ala) n.2013T>C c.1754T>C (p.Val585Ala) c.1751T>C (p.Val584Ala) c.62T>C (p.Val21Ala) | |
1 | g.99880698T>G | CA341316586 | AGL | c.1802T>G (p.Val601Gly) n.2013T>G c.1754T>G (p.Val585Gly) c.1751T>G (p.Val584Gly) c.62T>G (p.Val21Gly) | |
1 | g.99880699T>A | CA419080829 | AGL | c.1803T>A (p.Val601=) n.2014T>A c.1755T>A (p.Val585=) c.1752T>A (p.Val584=) c.63T>A (p.Val21=) | ClinVar dbSNP |
1 | g.99880699T>C | CA419080831 | AGL | c.1803T>C (p.Val601=) n.2014T>C c.1755T>C (p.Val585=) c.1752T>C (p.Val584=) c.63T>C (p.Val21=) | |
1 | g.99880699T>G | CA419080839 | AGL | c.1803T>G (p.Val601=) n.2014T>G c.1755T>G (p.Val585=) c.1752T>G (p.Val584=) c.63T>G (p.Val21=) | |
1 | g.99880700G>A | CA341316588 | AGL | c.1804G>A (p.Gly602Arg) n.2015G>A c.1756G>A (p.Gly586Arg) c.1753G>A (p.Gly585Arg) c.64G>A (p.Gly22Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99880700G>C | CA341316589 | AGL | c.1804G>C (p.Gly602Arg) n.2015G>C c.1756G>C (p.Gly586Arg) c.1753G>C (p.Gly585Arg) c.64G>C (p.Gly22Arg) | |
1 | g.99880700G= | CA1183929039 | AGL | c.1804G= (p.Gly602=) n.2015G= c.1756G= (p.Gly586=) c.1753G= (p.Gly585=) c.64G= (p.Gly22=) | |
1 | g.99880700G>T | CA341316592 | AGL | c.1804G>T (p.Gly602Ter) n.2015G>T c.1756G>T (p.Gly586Ter) c.1753G>T (p.Gly585Ter) c.64G>T (p.Gly22Ter) | |
1 | g.99880701G>A | CA341316594 | AGL | c.1805G>A (p.Gly602Glu) n.2016G>A c.1757G>A (p.Gly586Glu) c.1754G>A (p.Gly585Glu) c.65G>A (p.Gly22Glu) | |
1 | g.99880701G>C | CA341316596 | AGL | c.1805G>C (p.Gly602Ala) n.2016G>C c.1757G>C (p.Gly586Ala) c.1754G>C (p.Gly585Ala) c.65G>C (p.Gly22Ala) | |
1 | g.99880701G>T | CA341316598 | AGL | c.1805G>T (p.Gly602Val) n.2016G>T c.1757G>T (p.Gly586Val) c.1754G>T (p.Gly585Val) c.65G>T (p.Gly22Val) | gnomAD v4 |
1 | g.99880702del | CA2586967089 | AGL | c.1806del (p.Ser603ProfsTer7) n.2017del c.1758del (p.Ser587ProfsTer7) c.1755del (p.Ser586ProfsTer7) c.66del (p.Ser23ProfsTer7) | |
1 | g.99880702A>C | CA419080849 | AGL | c.1806A>C (p.Gly602=) n.2017A>C c.1758A>C (p.Gly586=) c.1755A>C (p.Gly585=) c.66A>C (p.Gly22=) | |
1 | g.99880702A>G | CA419080850 | AGL | c.1806A>G (p.Gly602=) n.2017A>G c.1758A>G (p.Gly586=) c.1755A>G (p.Gly585=) c.66A>G (p.Gly22=) | |
1 | g.99880702A>T | CA419080848 | AGL | c.1806A>T (p.Gly602=) n.2017A>T c.1758A>T (p.Gly586=) c.1755A>T (p.Gly585=) c.66A>T (p.Gly22=) | |
1 | g.99880703T>A | CA341316600 | AGL | c.1807T>A (p.Ser603Thr) n.2018T>A c.1759T>A (p.Ser587Thr) c.1756T>A (p.Ser586Thr) c.67T>A (p.Ser23Thr) | |
1 | g.99880703T>C | CA341316601 | AGL | c.1807T>C (p.Ser603Pro) n.2018T>C c.1759T>C (p.Ser587Pro) c.1756T>C (p.Ser586Pro) c.67T>C (p.Ser23Pro) | |
1 | g.99880703T>G | CA341316603 | AGL | c.1807T>G (p.Ser603Ala) n.2018T>G c.1759T>G (p.Ser587Ala) c.1756T>G (p.Ser586Ala) c.67T>G (p.Ser23Ala) | |
1 | g.99880704C>A | CA341316607 | AGL | c.1808C>A (p.Ser603Tyr) n.2019C>A c.1760C>A (p.Ser587Tyr) c.1757C>A (p.Ser586Tyr) c.68C>A (p.Ser23Tyr) | |
1 | g.99880704C= | CA1183929040 | AGL | c.1808C= (p.Ser603=) n.2019C= c.1760C= (p.Ser587=) c.1757C= (p.Ser586=) c.68C= (p.Ser23=) | |
1 | g.99880704C>G | CA341316609 | AGL | c.1808C>G (p.Ser603Cys) n.2019C>G c.1760C>G (p.Ser587Cys) c.1757C>G (p.Ser586Cys) c.68C>G (p.Ser23Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99880704C>T | CA341316606 | AGL | c.1808C>T (p.Ser603Phe) n.2019C>T c.1760C>T (p.Ser587Phe) c.1757C>T (p.Ser586Phe) c.68C>T (p.Ser23Phe) | |
1 | g.99880705C>A | CA419080863 | AGL | c.1809C>A (p.Ser603=) n.2020C>A c.1761C>A (p.Ser587=) c.1758C>A (p.Ser586=) c.69C>A (p.Ser23=) | |
1 | g.99880705C= | CA1141235446 | AGL | c.1809C= (p.Ser603=) n.2020C= c.1761C= (p.Ser587=) c.1758C= (p.Ser586=) c.69C= (p.Ser23=) | |
1 | g.99880705C>G | CA966598 | AGL | c.1809C>G (p.Ser603=) n.2020C>G c.1761C>G (p.Ser587=) c.1758C>G (p.Ser586=) c.69C>G (p.Ser23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99880705C>T | CA419080861 | AGL | c.1809C>T (p.Ser603=) n.2020C>T c.1761C>T (p.Ser587=) c.1758C>T (p.Ser586=) c.69C>T (p.Ser23=) | ClinVar dbSNP |
1 | g.99880706T>A | CA341316614 | AGL | c.1810T>A (p.Phe604Ile) n.2021T>A c.1762T>A (p.Phe588Ile) c.1759T>A (p.Phe587Ile) c.70T>A (p.Phe24Ile) | |
1 | g.99880706T>C | CA341316621 | AGL | c.1810T>C (p.Phe604Leu) n.2021T>C c.1762T>C (p.Phe588Leu) c.1759T>C (p.Phe587Leu) c.70T>C (p.Phe24Leu) | |
1 | g.99880706T>G | CA966599 | AGL | c.1810T>G (p.Phe604Val) n.2021T>G c.1762T>G (p.Phe588Val) c.1759T>G (p.Phe587Val) c.70T>G (p.Phe24Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99880706T= | CA1141596846 | AGL | c.1810T= (p.Phe604=) n.2021T= c.1762T= (p.Phe588=) c.1759T= (p.Phe587=) c.70T= (p.Phe24=) | |
1 | g.99880707T>A | CA341316623 | AGL | c.1811T>A (p.Phe604Tyr) n.2022T>A c.1763T>A (p.Phe588Tyr) c.1760T>A (p.Phe587Tyr) c.71T>A (p.Phe24Tyr) | |
1 | g.99880707T>C | CA341316626 | AGL | c.1811T>C (p.Phe604Ser) n.2022T>C c.1763T>C (p.Phe588Ser) c.1760T>C (p.Phe587Ser) c.71T>C (p.Phe24Ser) | |
1 | g.99880707T>G | CA341316631 | AGL | c.1811T>G (p.Phe604Cys) n.2022T>G c.1763T>G (p.Phe588Cys) c.1760T>G (p.Phe587Cys) c.71T>G (p.Phe24Cys) | |
1 | g.99880708T>A | CA341316633 | AGL | c.1812T>A (p.Phe604Leu) n.2023T>A c.1764T>A (p.Phe588Leu) c.1761T>A (p.Phe587Leu) c.72T>A (p.Phe24Leu) | |
1 | g.99880708T>C | CA419080879 | AGL | c.1812T>C (p.Phe604=) n.2023T>C c.1764T>C (p.Phe588=) c.1761T>C (p.Phe587=) c.72T>C (p.Phe24=) | gnomAD v4 |
1 | g.99880708T>G | CA341316635 | AGL | c.1812T>G (p.Phe604Leu) n.2023T>G c.1764T>G (p.Phe588Leu) c.1761T>G (p.Phe587Leu) c.72T>G (p.Phe24Leu) | gnomAD v4 |
1 | g.99880709G>A | CA341316638 | AGL | c.1813G>A (p.Val605Ile) n.2024G>A c.1765G>A (p.Val589Ile) c.1762G>A (p.Val588Ile) c.73G>A (p.Val25Ile) | gnomAD v4 |
1 | g.99880709G>C | CA341316640 | AGL | c.1813G>C (p.Val605Leu) n.2024G>C c.1765G>C (p.Val589Leu) c.1762G>C (p.Val588Leu) c.73G>C (p.Val25Leu) | |
1 | g.99880709G>T | CA341316641 | AGL | c.1813G>T (p.Val605Phe) n.2024G>T c.1765G>T (p.Val589Phe) c.1762G>T (p.Val588Phe) c.73G>T (p.Val25Phe) | |
1 | g.99880710T>A | CA341316644 | AGL | c.1814T>A (p.Val605Asp) n.2025T>A c.1766T>A (p.Val589Asp) c.1763T>A (p.Val588Asp) c.74T>A (p.Val25Asp) | |
1 | g.99880710T>C | CA341316647 | AGL | c.1814T>C (p.Val605Ala) n.2025T>C c.1766T>C (p.Val589Ala) c.1763T>C (p.Val588Ala) c.74T>C (p.Val25Ala) | |
1 | g.99880710T>G | CA341316649 | AGL | c.1814T>G (p.Val605Gly) n.2025T>G c.1766T>G (p.Val589Gly) c.1763T>G (p.Val588Gly) c.74T>G (p.Val25Gly) | |
1 | g.99880711T>A | CA419080887 | AGL | c.1815T>A (p.Val605=) n.2026T>A c.1767T>A (p.Val589=) c.1764T>A (p.Val588=) c.75T>A (p.Val25=) | |
1 | g.99880711T>C | CA419080889 | AGL | c.1815T>C (p.Val605=) n.2026T>C c.1767T>C (p.Val589=) c.1764T>C (p.Val588=) c.75T>C (p.Val25=) | ClinVar dbSNP |
1 | g.99880711T>G | CA419080890 | AGL | c.1815T>G (p.Val605=) n.2026T>G c.1767T>G (p.Val589=) c.1764T>G (p.Val588=) c.75T>G (p.Val25=) | |
1 | g.99880711T= | CA1183929041 | AGL | c.1815T= (p.Val605=) n.2026T= c.1767T= (p.Val589=) c.1764T= (p.Val588=) c.75T= (p.Val25=) | |
1 | g.99880712C>A | CA341316656 | AGL | c.1816C>A (p.Gln606Lys) n.2027C>A c.1768C>A (p.Gln590Lys) c.1765C>A (p.Gln589Lys) c.76C>A (p.Gln26Lys) | |
1 | g.99880712C= | CA1183929042 | AGL | c.1816C= (p.Gln606=) n.2027C= c.1768C= (p.Gln590=) c.1765C= (p.Gln589=) c.76C= (p.Gln26=) | |
1 | g.99880712C>G | CA341316654 | AGL | c.1816C>G (p.Gln606Glu) n.2027C>G c.1768C>G (p.Gln590Glu) c.1765C>G (p.Gln589Glu) c.76C>G (p.Gln26Glu) | |
1 | g.99880712C>T | CA341316652 | AGL | c.1816C>T (p.Gln606Ter) n.2027C>T c.1768C>T (p.Gln590Ter) c.1765C>T (p.Gln589Ter) c.76C>T (p.Gln26Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99880713A= | CA1183929043 | AGL | c.1817A= (p.Gln606=) n.2028A= c.1769A= (p.Gln590=) c.1766A= (p.Gln589=) c.77A= (p.Gln26=) | |
1 | g.99880713A>C | CA341316660 | AGL | c.1817A>C (p.Gln606Pro) n.2028A>C c.1769A>C (p.Gln590Pro) c.1766A>C (p.Gln589Pro) c.77A>C (p.Gln26Pro) | |
1 | g.99880713A>G | CA341316662 | AGL | c.1817A>G (p.Gln606Arg) n.2028A>G c.1769A>G (p.Gln590Arg) c.1766A>G (p.Gln589Arg) c.77A>G (p.Gln26Arg) | |
1 | g.99880713A>T | CA27515385 | AGL | c.1817A>T (p.Gln606Leu) n.2028A>T c.1769A>T (p.Gln590Leu) c.1766A>T (p.Gln589Leu) c.77A>T (p.Gln26Leu) | dbSNP |
1 | g.99880714G>A | CA419080906 | AGL | c.1818G>A (p.Gln606=) n.2029G>A c.1770G>A (p.Gln590=) c.1767G>A (p.Gln589=) c.78G>A (p.Gln26=) | gnomAD v4 |
1 | g.99880714G>C | CA341316670 | AGL | c.1818G>C (p.Gln606His) n.2029G>C c.1770G>C (p.Gln590His) c.1767G>C (p.Gln589His) c.78G>C (p.Gln26His) | |
1 | g.99880714G>T | CA341316673 | AGL | c.1818G>T (p.Gln606His) n.2029G>T c.1770G>T (p.Gln590His) c.1767G>T (p.Gln589His) c.78G>T (p.Gln26His) | |
1 | g.99880715C>A | CA341316677 | AGL | c.1819C>A (p.Pro607Thr) n.2030C>A c.1771C>A (p.Pro591Thr) c.1768C>A (p.Pro590Thr) c.79C>A (p.Pro27Thr) | |
1 | g.99880715C>G | CA341316679 | AGL | c.1819C>G (p.Pro607Ala) n.2030C>G c.1771C>G (p.Pro591Ala) c.1768C>G (p.Pro590Ala) c.79C>G (p.Pro27Ala) | |
1 | g.99880715C>T | CA341316681 | AGL | c.1819C>T (p.Pro607Ser) n.2030C>T c.1771C>T (p.Pro591Ser) c.1768C>T (p.Pro590Ser) c.79C>T (p.Pro27Ser) | gnomAD v4 |
1 | g.99880716C>A | CA966600 | AGL | c.1820C>A (p.Pro607His) n.2031C>A c.1772C>A (p.Pro591His) c.1769C>A (p.Pro590His) c.80C>A (p.Pro27His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99880716C= | CA1183929044 | AGL | c.1820C= (p.Pro607=) n.2031C= c.1772C= (p.Pro591=) c.1769C= (p.Pro590=) c.80C= (p.Pro27=) | |
1 | g.99880716C>G | CA341316685 | AGL | c.1820C>G (p.Pro607Arg) n.2031C>G c.1772C>G (p.Pro591Arg) c.1769C>G (p.Pro590Arg) c.80C>G (p.Pro27Arg) | |
1 | g.99880716C>T | CA341316686 | AGL | c.1820C>T (p.Pro607Leu) n.2031C>T c.1772C>T (p.Pro591Leu) c.1769C>T (p.Pro590Leu) c.80C>T (p.Pro27Leu) | |
1 | g.99880717C>A | CA419080915 | AGL | c.1821C>A (p.Pro607=) n.2032C>A c.1773C>A (p.Pro591=) c.1770C>A (p.Pro590=) c.81C>A (p.Pro27=) | |
1 | g.99880717C= | CA1183929045 | AGL | c.1821C= (p.Pro607=) n.2032C= c.1773C= (p.Pro591=) c.1770C= (p.Pro590=) c.81C= (p.Pro27=) | |
1 | g.99880717C>G | CA419080916 | AGL | c.1821C>G (p.Pro607=) n.2032C>G c.1773C>G (p.Pro591=) c.1770C>G (p.Pro590=) c.81C>G (p.Pro27=) | ClinVar dbSNP |
1 | g.99880717C>T | CA419080918 | AGL | c.1821C>T (p.Pro607=) n.2032C>T c.1773C>T (p.Pro591=) c.1770C>T (p.Pro590=) c.81C>T (p.Pro27=) | gnomAD v4 |
1 | g.99880718T>A | CA341316692 | AGL | c.1822T>A (p.Cys608Ser) n.2033T>A c.1774T>A (p.Cys592Ser) c.1771T>A (p.Cys591Ser) c.82T>A (p.Cys28Ser) | |
1 | g.99880718T>C | CA27515390 | AGL | c.1822T>C (p.Cys608Arg) n.2033T>C c.1774T>C (p.Cys592Arg) c.1771T>C (p.Cys591Arg) c.82T>C (p.Cys28Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99880718T>G | CA341316688 | AGL | c.1822T>G (p.Cys608Gly) n.2033T>G c.1774T>G (p.Cys592Gly) c.1771T>G (p.Cys591Gly) c.82T>G (p.Cys28Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99880718T= | CA1183929046 | AGL | c.1822T= (p.Cys608=) n.2033T= c.1774T= (p.Cys592=) c.1771T= (p.Cys591=) c.82T= (p.Cys28=) | |
1 | g.99880719G>A | CA341316697 | AGL | c.1823G>A (p.Cys608Tyr) n.2034G>A c.1775G>A (p.Cys592Tyr) c.1772G>A (p.Cys591Tyr) c.83G>A (p.Cys28Tyr) | ClinVar dbSNP gnomAD v4 |
1 | g.99880719G>C | CA341316698 | AGL | c.1823G>C (p.Cys608Ser) n.2034G>C c.1775G>C (p.Cys592Ser) c.1772G>C (p.Cys591Ser) c.83G>C (p.Cys28Ser) | |
1 | g.99880719G= | CA1183929047 | AGL | c.1823G= (p.Cys608=) n.2034G= c.1775G= (p.Cys592=) c.1772G= (p.Cys591=) c.83G= (p.Cys28=) | |
1 | g.99880719G>T | CA341316700 | AGL | c.1823G>T (p.Cys608Phe) n.2034G>T c.1775G>T (p.Cys592Phe) c.1772G>T (p.Cys591Phe) c.83G>T (p.Cys28Phe) | |
1 | g.99880720T>A | CA341316701 | AGL | c.1824T>A (p.Cys608Ter) n.2035T>A c.1776T>A (p.Cys592Ter) c.1773T>A (p.Cys591Ter) c.84T>A (p.Cys28Ter) | |
1 | g.99880720T>C | CA419080936 | AGL | c.1824T>C (p.Cys608=) n.2035T>C c.1776T>C (p.Cys592=) c.1773T>C (p.Cys591=) c.84T>C (p.Cys28=) | |
1 | g.99880720T>G | CA341316703 | AGL | c.1824T>G (p.Cys608Trp) n.2035T>G c.1776T>G (p.Cys592Trp) c.1773T>G (p.Cys591Trp) c.84T>G (p.Cys28Trp) | |
1 | g.99880721T>A | CA341316705 | AGL | c.1825T>A (p.Leu609Met) n.2036T>A c.1777T>A (p.Leu593Met) c.1774T>A (p.Leu592Met) c.85T>A (p.Leu29Met) | |
1 | g.99880721T>C | CA419080939 | AGL | c.1825T>C (p.Leu609=) n.2036T>C c.1777T>C (p.Leu593=) c.1774T>C (p.Leu592=) c.85T>C (p.Leu29=) | |
1 | g.99880721T>G | CA341316709 | AGL | c.1825T>G (p.Leu609Val) n.2036T>G c.1777T>G (p.Leu593Val) c.1774T>G (p.Leu592Val) c.85T>G (p.Leu29Val) | |
1 | g.99880722T>A | CA341316712 | AGL | c.1826T>A (p.Leu609Ter) n.2037T>A c.1778T>A (p.Leu593Ter) c.1775T>A (p.Leu592Ter) c.86T>A (p.Leu29Ter) | |
1 | g.99880722T>C | CA341316714 | AGL | c.1826T>C (p.Leu609Ser) n.2037T>C c.1778T>C (p.Leu593Ser) c.1775T>C (p.Leu592Ser) c.86T>C (p.Leu29Ser) | |
1 | g.99880722T>G | CA341316717 | AGL | c.1826T>G (p.Leu609Trp) n.2037T>G c.1778T>G (p.Leu593Trp) c.1775T>G (p.Leu592Trp) c.86T>G (p.Leu29Trp) | gnomAD v4 |
1 | g.99880723G>A | CA419080947 | AGL | c.1827G>A (p.Leu609=) n.2038G>A c.1779G>A (p.Leu593=) c.1776G>A (p.Leu592=) c.87G>A (p.Leu29=) | |
1 | g.99880723G>C | CA341316719 | AGL | c.1827G>C (p.Leu609Phe) n.2038G>C c.1779G>C (p.Leu593Phe) c.1776G>C (p.Leu592Phe) c.87G>C (p.Leu29Phe) | |
1 | g.99880723G>T | CA341316720 | AGL | c.1827G>T (p.Leu609Phe) n.2038G>T c.1779G>T (p.Leu593Phe) c.1776G>T (p.Leu592Phe) c.87G>T (p.Leu29Phe) | |
1 | g.99880724A>C | CA419080954 | AGL | c.1828A>C (p.Arg610=) n.2039A>C c.1780A>C (p.Arg594=) c.1777A>C (p.Arg593=) c.88A>C (p.Arg30=) | ClinVar gnomAD v4 |
1 | g.99880724A>G | CA341316726 | AGL | c.1828A>G (p.Arg610Gly) n.2039A>G c.1780A>G (p.Arg594Gly) c.1777A>G (p.Arg593Gly) c.88A>G (p.Arg30Gly) | |
1 | g.99880724A>T | CA341316723 | AGL | c.1828A>T (p.Arg610Trp) n.2039A>T c.1780A>T (p.Arg594Trp) c.1777A>T (p.Arg593Trp) c.88A>T (p.Arg30Trp) | |
1 | g.99880725G>A | CA966601 | AGL | c.1829G>A (p.Arg610Lys) n.2040G>A c.1781G>A (p.Arg594Lys) c.1778G>A (p.Arg593Lys) c.89G>A (p.Arg30Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99880725G>C | CA341316732 | AGL | c.1829G>C (p.Arg610Thr) n.2040G>C c.1781G>C (p.Arg594Thr) c.1778G>C (p.Arg593Thr) c.89G>C (p.Arg30Thr) | |
1 | g.99880725G= | CA1183929048 | AGL | c.1829G= (p.Arg610=) n.2040G= c.1781G= (p.Arg594=) c.1778G= (p.Arg593=) c.89G= (p.Arg30=) | |
1 | g.99880725G>T | CA341316735 | AGL | c.1829G>T (p.Arg610Met) n.2040G>T c.1781G>T (p.Arg594Met) c.1778G>T (p.Arg593Met) c.89G>T (p.Arg30Met) | |
1 | g.99880726del | CA2573131974 | AGL | c.1830del (p.Arg610SerfsTer3) n.2041del c.1782del (p.Arg594SerfsTer3) c.1779del (p.Arg593SerfsTer3) c.90del (p.Arg30SerfsTer3) | ClinVar dbSNP gnomAD v4 |
1 | g.99880726G>A | CA419080960 | AGL | c.1830G>A (p.Arg610=) n.2041G>A c.1782G>A (p.Arg594=) c.1779G>A (p.Arg593=) c.90G>A (p.Arg30=) | |
1 | g.99880726G>C | CA341316737 | AGL | c.1830G>C (p.Arg610Ser) n.2041G>C c.1782G>C (p.Arg594Ser) c.1779G>C (p.Arg593Ser) c.90G>C (p.Arg30Ser) | |
1 | g.99880726G>T | CA341316740 | AGL | c.1830G>T (p.Arg610Ser) n.2041G>T c.1782G>T (p.Arg594Ser) c.1779G>T (p.Arg593Ser) c.90G>T (p.Arg30Ser) | |
1 | g.99880727C>A | CA341316743 | AGL | c.1831C>A (p.Pro611Thr) n.2042C>A c.1783C>A (p.Pro595Thr) c.1780C>A (p.Pro594Thr) c.91C>A (p.Pro31Thr) | |
1 | g.99880727C>G | CA341316745 | AGL | c.1831C>G (p.Pro611Ala) n.2042C>G c.1783C>G (p.Pro595Ala) c.1780C>G (p.Pro594Ala) c.91C>G (p.Pro31Ala) | |
1 | g.99880727C>T | CA341316748 | AGL | c.1831C>T (p.Pro611Ser) n.2042C>T c.1783C>T (p.Pro595Ser) c.1780C>T (p.Pro594Ser) c.91C>T (p.Pro31Ser) |