WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.114659617T>A | CA368965604 | FOXP2 | c.1642T>A (p.Tyr548Asn) c.1582T>A (p.Tyr528Asn) c.1591T>A (p.Tyr531Asn) c.1717T>A (p.Tyr573Asn) c.1036T>A (p.Tyr346Asn) c.545-2448T>A c.*1385T>A (n.*1385T>A) c.1315T>A (p.Tyr439Asn) c.1528T>A (p.Tyr510Asn) c.1666T>A (p.Tyr556Asn) c.*1309T>A (n.*1309T>A) c.*1591T>A (n.*1591T>A) c.1540T>A (p.Tyr514Asn) c.1531T>A (p.Tyr511Asn) c.*1388T>A (n.*1388T>A) c.1594T>A (p.Tyr532Asn) c.1588T>A (p.Tyr530Asn) n.1976T>A n.2023T>A c.1735T>A (p.Tyr579Asn) n.1959T>A n.2205T>A | |
| 7 | g.114659617T>C | CA10584037 | FOXP2 | c.1642T>C (p.Tyr548His) c.1582T>C (p.Tyr528His) c.1591T>C (p.Tyr531His) c.1717T>C (p.Tyr573His) c.1036T>C (p.Tyr346His) c.545-2448T>C c.*1385T>C (n.*1385T>C) c.1315T>C (p.Tyr439His) c.1528T>C (p.Tyr510His) c.1666T>C (p.Tyr556His) c.*1309T>C (n.*1309T>C) c.*1591T>C (n.*1591T>C) c.1540T>C (p.Tyr514His) c.1531T>C (p.Tyr511His) c.*1388T>C (n.*1388T>C) c.1594T>C (p.Tyr532His) c.1588T>C (p.Tyr530His) n.1976T>C n.2023T>C c.1735T>C (p.Tyr579His) n.1959T>C n.2205T>C | ClinVar dbSNP |
| 7 | g.114659617T>G | CA368965603 | FOXP2 | c.1642T>G (p.Tyr548Asp) c.1582T>G (p.Tyr528Asp) c.1591T>G (p.Tyr531Asp) c.1717T>G (p.Tyr573Asp) c.1036T>G (p.Tyr346Asp) c.545-2448T>G c.*1385T>G (n.*1385T>G) c.1315T>G (p.Tyr439Asp) c.1528T>G (p.Tyr510Asp) c.1666T>G (p.Tyr556Asp) c.*1309T>G (n.*1309T>G) c.*1591T>G (n.*1591T>G) c.1540T>G (p.Tyr514Asp) c.1531T>G (p.Tyr511Asp) c.*1388T>G (n.*1388T>G) c.1594T>G (p.Tyr532Asp) c.1588T>G (p.Tyr530Asp) n.1976T>G n.2023T>G c.1735T>G (p.Tyr579Asp) n.1959T>G n.2205T>G | |
| 7 | g.114659617T= | CA1736046859 | FOXP2 | c.1642T= (p.Tyr548=) c.1582T= (p.Tyr528=) c.1591T= (p.Tyr531=) c.1717T= (p.Tyr573=) c.1036T= (p.Tyr346=) c.545-2448T= c.*1385T= (n.*1385T=) c.1315T= (p.Tyr439=) c.1528T= (p.Tyr510=) c.1666T= (p.Tyr556=) c.*1309T= (n.*1309T=) c.*1591T= (n.*1591T=) c.1540T= (p.Tyr514=) c.1531T= (p.Tyr511=) c.*1388T= (n.*1388T=) c.1594T= (p.Tyr532=) c.1588T= (p.Tyr530=) n.1976T= n.2023T= c.1735T= (p.Tyr579=) n.1959T= n.2205T= | |
| 7 | g.114659618A>C | CA368965605 | FOXP2 | c.1643A>C (p.Tyr548Ser) c.1583A>C (p.Tyr528Ser) c.1592A>C (p.Tyr531Ser) c.1718A>C (p.Tyr573Ser) c.1037A>C (p.Tyr346Ser) c.545-2447A>C c.*1386A>C (n.*1386A>C) c.1316A>C (p.Tyr439Ser) c.1529A>C (p.Tyr510Ser) c.1667A>C (p.Tyr556Ser) c.*1310A>C (n.*1310A>C) c.*1592A>C (n.*1592A>C) c.1541A>C (p.Tyr514Ser) c.1532A>C (p.Tyr511Ser) c.*1389A>C (n.*1389A>C) c.1595A>C (p.Tyr532Ser) c.1589A>C (p.Tyr530Ser) n.1977A>C n.2024A>C c.1736A>C (p.Tyr579Ser) n.1960A>C n.2206A>C | |
| 7 | g.114659618A>G | CA368965606 | FOXP2 | c.1643A>G (p.Tyr548Cys) c.1583A>G (p.Tyr528Cys) c.1592A>G (p.Tyr531Cys) c.1718A>G (p.Tyr573Cys) c.1037A>G (p.Tyr346Cys) c.545-2447A>G c.*1386A>G (n.*1386A>G) c.1316A>G (p.Tyr439Cys) c.1529A>G (p.Tyr510Cys) c.1667A>G (p.Tyr556Cys) c.*1310A>G (n.*1310A>G) c.*1592A>G (n.*1592A>G) c.1541A>G (p.Tyr514Cys) c.1532A>G (p.Tyr511Cys) c.*1389A>G (n.*1389A>G) c.1595A>G (p.Tyr532Cys) c.1589A>G (p.Tyr530Cys) n.1977A>G n.2024A>G c.1736A>G (p.Tyr579Cys) n.1960A>G n.2206A>G | |
| 7 | g.114659618A>T | CA368965607 | FOXP2 | c.1643A>T (p.Tyr548Phe) c.1583A>T (p.Tyr528Phe) c.1592A>T (p.Tyr531Phe) c.1718A>T (p.Tyr573Phe) c.1037A>T (p.Tyr346Phe) c.545-2447A>T c.*1386A>T (n.*1386A>T) c.1316A>T (p.Tyr439Phe) c.1529A>T (p.Tyr510Phe) c.1667A>T (p.Tyr556Phe) c.*1310A>T (n.*1310A>T) c.*1592A>T (n.*1592A>T) c.1541A>T (p.Tyr514Phe) c.1532A>T (p.Tyr511Phe) c.*1389A>T (n.*1389A>T) c.1595A>T (p.Tyr532Phe) c.1589A>T (p.Tyr530Phe) n.1977A>T n.2024A>T c.1736A>T (p.Tyr579Phe) n.1960A>T n.2206A>T | |
| 7 | g.114659619C>A | CA368965608 | FOXP2 | c.1644C>A (p.Tyr548Ter) c.1584C>A (p.Tyr528Ter) c.1593C>A (p.Tyr531Ter) c.1719C>A (p.Tyr573Ter) c.1038C>A (p.Tyr346Ter) c.545-2446C>A c.*1387C>A (n.*1387C>A) c.1317C>A (p.Tyr439Ter) c.1530C>A (p.Tyr510Ter) c.1668C>A (p.Tyr556Ter) c.*1311C>A (n.*1311C>A) c.*1593C>A (n.*1593C>A) c.1542C>A (p.Tyr514Ter) c.1533C>A (p.Tyr511Ter) c.*1390C>A (n.*1390C>A) c.1596C>A (p.Tyr532Ter) c.1590C>A (p.Tyr530Ter) n.1978C>A n.2025C>A c.1737C>A (p.Tyr579Ter) n.1961C>A n.2207C>A | |
| 7 | g.114659619C>G | CA368965609 | FOXP2 | c.1644C>G (p.Tyr548Ter) c.1584C>G (p.Tyr528Ter) c.1593C>G (p.Tyr531Ter) c.1719C>G (p.Tyr573Ter) c.1038C>G (p.Tyr346Ter) c.545-2446C>G c.*1387C>G (n.*1387C>G) c.1317C>G (p.Tyr439Ter) c.1530C>G (p.Tyr510Ter) c.1668C>G (p.Tyr556Ter) c.*1311C>G (n.*1311C>G) c.*1593C>G (n.*1593C>G) c.1542C>G (p.Tyr514Ter) c.1533C>G (p.Tyr511Ter) c.*1390C>G (n.*1390C>G) c.1596C>G (p.Tyr532Ter) c.1590C>G (p.Tyr530Ter) n.1978C>G n.2025C>G c.1737C>G (p.Tyr579Ter) n.1961C>G n.2207C>G | |
| 7 | g.114659619C>T | CA457220109 | FOXP2 | c.1644C>T (p.Tyr548=) c.1584C>T (p.Tyr528=) c.1593C>T (p.Tyr531=) c.1719C>T (p.Tyr573=) c.1038C>T (p.Tyr346=) c.545-2446C>T c.*1387C>T (n.*1387C>T) c.1317C>T (p.Tyr439=) c.1530C>T (p.Tyr510=) c.1668C>T (p.Tyr556=) c.*1311C>T (n.*1311C>T) c.*1593C>T (n.*1593C>T) c.1542C>T (p.Tyr514=) c.1533C>T (p.Tyr511=) c.*1390C>T (n.*1390C>T) c.1596C>T (p.Tyr532=) c.1590C>T (p.Tyr530=) n.1978C>T n.2025C>T c.1737C>T (p.Tyr579=) n.1961C>T n.2207C>T | gnomAD v4 |
| 7 | g.114659620A>C | CA368965610 | FOXP2 | c.1645A>C (p.Ser549Arg) c.1585A>C (p.Ser529Arg) c.1594A>C (p.Ser532Arg) c.1720A>C (p.Ser574Arg) c.1039A>C (p.Ser347Arg) c.545-2445A>C c.*1388A>C (n.*1388A>C) c.1318A>C (p.Ser440Arg) c.1531A>C (p.Ser511Arg) c.1669A>C (p.Ser557Arg) c.*1312A>C (n.*1312A>C) c.*1594A>C (n.*1594A>C) c.1543A>C (p.Ser515Arg) c.1534A>C (p.Ser512Arg) c.*1391A>C (n.*1391A>C) c.1597A>C (p.Ser533Arg) c.1591A>C (p.Ser531Arg) n.1979A>C n.2026A>C c.1738A>C (p.Ser580Arg) n.1962A>C n.2208A>C | |
| 7 | g.114659620A>G | CA368965612 | FOXP2 | c.1645A>G (p.Ser549Gly) c.1585A>G (p.Ser529Gly) c.1594A>G (p.Ser532Gly) c.1720A>G (p.Ser574Gly) c.1039A>G (p.Ser347Gly) c.545-2445A>G c.*1388A>G (n.*1388A>G) c.1318A>G (p.Ser440Gly) c.1531A>G (p.Ser511Gly) c.1669A>G (p.Ser557Gly) c.*1312A>G (n.*1312A>G) c.*1594A>G (n.*1594A>G) c.1543A>G (p.Ser515Gly) c.1534A>G (p.Ser512Gly) c.*1391A>G (n.*1391A>G) c.1597A>G (p.Ser533Gly) c.1591A>G (p.Ser531Gly) n.1979A>G n.2026A>G c.1738A>G (p.Ser580Gly) n.1962A>G n.2208A>G | |
| 7 | g.114659620A>T | CA368965611 | FOXP2 | c.1645A>T (p.Ser549Cys) c.1585A>T (p.Ser529Cys) c.1594A>T (p.Ser532Cys) c.1720A>T (p.Ser574Cys) c.1039A>T (p.Ser347Cys) c.545-2445A>T c.*1388A>T (n.*1388A>T) c.1318A>T (p.Ser440Cys) c.1531A>T (p.Ser511Cys) c.1669A>T (p.Ser557Cys) c.*1312A>T (n.*1312A>T) c.*1594A>T (n.*1594A>T) c.1543A>T (p.Ser515Cys) c.1534A>T (p.Ser512Cys) c.*1391A>T (n.*1391A>T) c.1597A>T (p.Ser533Cys) c.1591A>T (p.Ser531Cys) n.1979A>T n.2026A>T c.1738A>T (p.Ser580Cys) n.1962A>T n.2208A>T | |
| 7 | g.114659621G>A | CA368965613 | FOXP2 | c.1646G>A (p.Ser549Asn) c.1586G>A (p.Ser529Asn) c.1595G>A (p.Ser532Asn) c.1721G>A (p.Ser574Asn) c.1040G>A (p.Ser347Asn) c.545-2444G>A c.*1389G>A (n.*1389G>A) c.1319G>A (p.Ser440Asn) c.1532G>A (p.Ser511Asn) c.1670G>A (p.Ser557Asn) c.*1313G>A (n.*1313G>A) c.*1595G>A (n.*1595G>A) c.1544G>A (p.Ser515Asn) c.1535G>A (p.Ser512Asn) c.*1392G>A (n.*1392G>A) c.1598G>A (p.Ser533Asn) c.1592G>A (p.Ser531Asn) n.1980G>A n.2027G>A c.1739G>A (p.Ser580Asn) n.1963G>A n.2209G>A | gnomAD v4 |
| 7 | g.114659621G>C | CA368965614 | FOXP2 | c.1646G>C (p.Ser549Thr) c.1586G>C (p.Ser529Thr) c.1595G>C (p.Ser532Thr) c.1721G>C (p.Ser574Thr) c.1040G>C (p.Ser347Thr) c.545-2444G>C c.*1389G>C (n.*1389G>C) c.1319G>C (p.Ser440Thr) c.1532G>C (p.Ser511Thr) c.1670G>C (p.Ser557Thr) c.*1313G>C (n.*1313G>C) c.*1595G>C (n.*1595G>C) c.1544G>C (p.Ser515Thr) c.1535G>C (p.Ser512Thr) c.*1392G>C (n.*1392G>C) c.1598G>C (p.Ser533Thr) c.1592G>C (p.Ser531Thr) n.1980G>C n.2027G>C c.1739G>C (p.Ser580Thr) n.1963G>C n.2209G>C | |
| 7 | g.114659621G>T | CA368965615 | FOXP2 | c.1646G>T (p.Ser549Ile) c.1586G>T (p.Ser529Ile) c.1595G>T (p.Ser532Ile) c.1721G>T (p.Ser574Ile) c.1040G>T (p.Ser347Ile) c.545-2444G>T c.*1389G>T (n.*1389G>T) c.1319G>T (p.Ser440Ile) c.1532G>T (p.Ser511Ile) c.1670G>T (p.Ser557Ile) c.*1313G>T (n.*1313G>T) c.*1595G>T (n.*1595G>T) c.1544G>T (p.Ser515Ile) c.1535G>T (p.Ser512Ile) c.*1392G>T (n.*1392G>T) c.1598G>T (p.Ser533Ile) c.1592G>T (p.Ser531Ile) n.1980G>T n.2027G>T c.1739G>T (p.Ser580Ile) n.1963G>T n.2209G>T | |
| 7 | g.114659622C>A | CA368965616 | FOXP2 | c.1647C>A (p.Ser549Arg) c.1587C>A (p.Ser529Arg) c.1596C>A (p.Ser532Arg) c.1722C>A (p.Ser574Arg) c.1041C>A (p.Ser347Arg) c.545-2443C>A c.*1390C>A (n.*1390C>A) c.1320C>A (p.Ser440Arg) c.1533C>A (p.Ser511Arg) c.1671C>A (p.Ser557Arg) c.*1314C>A (n.*1314C>A) c.*1596C>A (n.*1596C>A) c.1545C>A (p.Ser515Arg) c.1536C>A (p.Ser512Arg) c.*1393C>A (n.*1393C>A) c.1599C>A (p.Ser533Arg) c.1593C>A (p.Ser531Arg) n.1981C>A n.2028C>A c.1740C>A (p.Ser580Arg) n.1964C>A n.2210C>A | |
| 7 | g.114659622C>G | CA368965617 | FOXP2 | c.1647C>G (p.Ser549Arg) c.1587C>G (p.Ser529Arg) c.1596C>G (p.Ser532Arg) c.1722C>G (p.Ser574Arg) c.1041C>G (p.Ser347Arg) c.545-2443C>G c.*1390C>G (n.*1390C>G) c.1320C>G (p.Ser440Arg) c.1533C>G (p.Ser511Arg) c.1671C>G (p.Ser557Arg) c.*1314C>G (n.*1314C>G) c.*1596C>G (n.*1596C>G) c.1545C>G (p.Ser515Arg) c.1536C>G (p.Ser512Arg) c.*1393C>G (n.*1393C>G) c.1599C>G (p.Ser533Arg) c.1593C>G (p.Ser531Arg) n.1981C>G n.2028C>G c.1740C>G (p.Ser580Arg) n.1964C>G n.2210C>G | |
| 7 | g.114659622C>T | CA457220113 | FOXP2 | c.1647C>T (p.Ser549=) c.1587C>T (p.Ser529=) c.1596C>T (p.Ser532=) c.1722C>T (p.Ser574=) c.1041C>T (p.Ser347=) c.545-2443C>T c.*1390C>T (n.*1390C>T) c.1320C>T (p.Ser440=) c.1533C>T (p.Ser511=) c.1671C>T (p.Ser557=) c.*1314C>T (n.*1314C>T) c.*1596C>T (n.*1596C>T) c.1545C>T (p.Ser515=) c.1536C>T (p.Ser512=) c.*1393C>T (n.*1393C>T) c.1599C>T (p.Ser533=) c.1593C>T (p.Ser531=) n.1981C>T n.2028C>T c.1740C>T (p.Ser580=) n.1964C>T n.2210C>T | |
| 7 | g.114659623T>A | CA368965618 | FOXP2 | c.1648T>A (p.Trp550Arg) c.1588T>A (p.Trp530Arg) c.1597T>A (p.Trp533Arg) c.1723T>A (p.Trp575Arg) c.1042T>A (p.Trp348Arg) c.545-2442T>A c.*1391T>A (n.*1391T>A) c.1321T>A (p.Trp441Arg) c.1534T>A (p.Trp512Arg) c.1672T>A (p.Trp558Arg) c.*1315T>A (n.*1315T>A) c.*1597T>A (n.*1597T>A) c.1546T>A (p.Trp516Arg) c.1537T>A (p.Trp513Arg) c.*1394T>A (n.*1394T>A) c.1600T>A (p.Trp534Arg) c.1594T>A (p.Trp532Arg) n.1982T>A n.2029T>A c.1741T>A (p.Trp581Arg) n.1965T>A n.2211T>A | |
| 7 | g.114659623T>C | CA368965619 | FOXP2 | c.1648T>C (p.Trp550Arg) c.1588T>C (p.Trp530Arg) c.1597T>C (p.Trp533Arg) c.1723T>C (p.Trp575Arg) c.1042T>C (p.Trp348Arg) c.545-2442T>C c.*1391T>C (n.*1391T>C) c.1321T>C (p.Trp441Arg) c.1534T>C (p.Trp512Arg) c.1672T>C (p.Trp558Arg) c.*1315T>C (n.*1315T>C) c.*1597T>C (n.*1597T>C) c.1546T>C (p.Trp516Arg) c.1537T>C (p.Trp513Arg) c.*1394T>C (n.*1394T>C) c.1600T>C (p.Trp534Arg) c.1594T>C (p.Trp532Arg) n.1982T>C n.2029T>C c.1741T>C (p.Trp581Arg) n.1965T>C n.2211T>C | |
| 7 | g.114659623T>G | CA368965620 | FOXP2 | c.1648T>G (p.Trp550Gly) c.1588T>G (p.Trp530Gly) c.1597T>G (p.Trp533Gly) c.1723T>G (p.Trp575Gly) c.1042T>G (p.Trp348Gly) c.545-2442T>G c.*1391T>G (n.*1391T>G) c.1321T>G (p.Trp441Gly) c.1534T>G (p.Trp512Gly) c.1672T>G (p.Trp558Gly) c.*1315T>G (n.*1315T>G) c.*1597T>G (n.*1597T>G) c.1546T>G (p.Trp516Gly) c.1537T>G (p.Trp513Gly) c.*1394T>G (n.*1394T>G) c.1600T>G (p.Trp534Gly) c.1594T>G (p.Trp532Gly) n.1982T>G n.2029T>G c.1741T>G (p.Trp581Gly) n.1965T>G n.2211T>G | |
| 7 | g.114659624G>A | CA368965621 | FOXP2 | c.1649G>A (p.Trp550Ter) c.1589G>A (p.Trp530Ter) c.1598G>A (p.Trp533Ter) c.1724G>A (p.Trp575Ter) c.1043G>A (p.Trp348Ter) c.545-2441G>A c.*1392G>A (n.*1392G>A) c.1322G>A (p.Trp441Ter) c.1535G>A (p.Trp512Ter) c.1673G>A (p.Trp558Ter) c.*1316G>A (n.*1316G>A) c.*1598G>A (n.*1598G>A) c.1547G>A (p.Trp516Ter) c.1538G>A (p.Trp513Ter) c.*1395G>A (n.*1395G>A) c.1601G>A (p.Trp534Ter) c.1595G>A (p.Trp532Ter) n.1983G>A n.2030G>A c.1742G>A (p.Trp581Ter) n.1966G>A n.2212G>A | COSMIC COSMIC |
| 7 | g.114659624G>C | CA368965622 | FOXP2 | c.1649G>C (p.Trp550Ser) c.1589G>C (p.Trp530Ser) c.1598G>C (p.Trp533Ser) c.1724G>C (p.Trp575Ser) c.1043G>C (p.Trp348Ser) c.545-2441G>C c.*1392G>C (n.*1392G>C) c.1322G>C (p.Trp441Ser) c.1535G>C (p.Trp512Ser) c.1673G>C (p.Trp558Ser) c.*1316G>C (n.*1316G>C) c.*1598G>C (n.*1598G>C) c.1547G>C (p.Trp516Ser) c.1538G>C (p.Trp513Ser) c.*1395G>C (n.*1395G>C) c.1601G>C (p.Trp534Ser) c.1595G>C (p.Trp532Ser) n.1983G>C n.2030G>C c.1742G>C (p.Trp581Ser) n.1966G>C n.2212G>C | |
| 7 | g.114659624G>T | CA368965623 | FOXP2 | c.1649G>T (p.Trp550Leu) c.1589G>T (p.Trp530Leu) c.1598G>T (p.Trp533Leu) c.1724G>T (p.Trp575Leu) c.1043G>T (p.Trp348Leu) c.545-2441G>T c.*1392G>T (n.*1392G>T) c.1322G>T (p.Trp441Leu) c.1535G>T (p.Trp512Leu) c.1673G>T (p.Trp558Leu) c.*1316G>T (n.*1316G>T) c.*1598G>T (n.*1598G>T) c.1547G>T (p.Trp516Leu) c.1538G>T (p.Trp513Leu) c.*1395G>T (n.*1395G>T) c.1601G>T (p.Trp534Leu) c.1595G>T (p.Trp532Leu) n.1983G>T n.2030G>T c.1742G>T (p.Trp581Leu) n.1966G>T n.2212G>T | |
| 7 | g.114659625G>A | CA368965624 | FOXP2 | c.1650G>A (p.Trp550Ter) c.1590G>A (p.Trp530Ter) c.1599G>A (p.Trp533Ter) c.1725G>A (p.Trp575Ter) c.1044G>A (p.Trp348Ter) c.545-2440G>A c.*1393G>A (n.*1393G>A) c.1323G>A (p.Trp441Ter) c.1536G>A (p.Trp512Ter) c.1674G>A (p.Trp558Ter) c.*1317G>A (n.*1317G>A) c.*1599G>A (n.*1599G>A) c.1548G>A (p.Trp516Ter) c.1539G>A (p.Trp513Ter) c.*1396G>A (n.*1396G>A) c.1602G>A (p.Trp534Ter) c.1596G>A (p.Trp532Ter) n.1984G>A n.2031G>A c.1743G>A (p.Trp581Ter) n.1967G>A n.2213G>A | |
| 7 | g.114659625G>C | CA368965626 | FOXP2 | c.1650G>C (p.Trp550Cys) c.1590G>C (p.Trp530Cys) c.1599G>C (p.Trp533Cys) c.1725G>C (p.Trp575Cys) c.1044G>C (p.Trp348Cys) c.545-2440G>C c.*1393G>C (n.*1393G>C) c.1323G>C (p.Trp441Cys) c.1536G>C (p.Trp512Cys) c.1674G>C (p.Trp558Cys) c.*1317G>C (n.*1317G>C) c.*1599G>C (n.*1599G>C) c.1548G>C (p.Trp516Cys) c.1539G>C (p.Trp513Cys) c.*1396G>C (n.*1396G>C) c.1602G>C (p.Trp534Cys) c.1596G>C (p.Trp532Cys) n.1984G>C n.2031G>C c.1743G>C (p.Trp581Cys) n.1967G>C n.2213G>C | |
| 7 | g.114659625G>T | CA368965625 | FOXP2 | c.1650G>T (p.Trp550Cys) c.1590G>T (p.Trp530Cys) c.1599G>T (p.Trp533Cys) c.1725G>T (p.Trp575Cys) c.1044G>T (p.Trp348Cys) c.545-2440G>T c.*1393G>T (n.*1393G>T) c.1323G>T (p.Trp441Cys) c.1536G>T (p.Trp512Cys) c.1674G>T (p.Trp558Cys) c.*1317G>T (n.*1317G>T) c.*1599G>T (n.*1599G>T) c.1548G>T (p.Trp516Cys) c.1539G>T (p.Trp513Cys) c.*1396G>T (n.*1396G>T) c.1602G>T (p.Trp534Cys) c.1596G>T (p.Trp532Cys) n.1984G>T n.2031G>T c.1743G>T (p.Trp581Cys) n.1967G>T n.2213G>T | |
| 7 | g.114659626T>A | CA368965627 | FOXP2 | c.1651T>A (p.Phe551Ile) c.1591T>A (p.Phe531Ile) c.1600T>A (p.Phe534Ile) c.1726T>A (p.Phe576Ile) c.1045T>A (p.Phe349Ile) c.545-2439T>A c.*1394T>A (n.*1394T>A) c.1324T>A (p.Phe442Ile) c.1537T>A (p.Phe513Ile) c.1675T>A (p.Phe559Ile) c.*1318T>A (n.*1318T>A) c.*1600T>A (n.*1600T>A) c.1549T>A (p.Phe517Ile) c.1540T>A (p.Phe514Ile) c.*1397T>A (n.*1397T>A) c.1603T>A (p.Phe535Ile) c.1597T>A (p.Phe533Ile) n.1985T>A n.2032T>A c.1744T>A (p.Phe582Ile) n.1968T>A n.2214T>A | |
| 7 | g.114659626T>C | CA368965628 | FOXP2 | c.1651T>C (p.Phe551Leu) c.1591T>C (p.Phe531Leu) c.1600T>C (p.Phe534Leu) c.1726T>C (p.Phe576Leu) c.1045T>C (p.Phe349Leu) c.545-2439T>C c.*1394T>C (n.*1394T>C) c.1324T>C (p.Phe442Leu) c.1537T>C (p.Phe513Leu) c.1675T>C (p.Phe559Leu) c.*1318T>C (n.*1318T>C) c.*1600T>C (n.*1600T>C) c.1549T>C (p.Phe517Leu) c.1540T>C (p.Phe514Leu) c.*1397T>C (n.*1397T>C) c.1603T>C (p.Phe535Leu) c.1597T>C (p.Phe533Leu) n.1985T>C n.2032T>C c.1744T>C (p.Phe582Leu) n.1968T>C n.2214T>C | |
| 7 | g.114659626T>G | CA368965629 | FOXP2 | c.1651T>G (p.Phe551Val) c.1591T>G (p.Phe531Val) c.1600T>G (p.Phe534Val) c.1726T>G (p.Phe576Val) c.1045T>G (p.Phe349Val) c.545-2439T>G c.*1394T>G (n.*1394T>G) c.1324T>G (p.Phe442Val) c.1537T>G (p.Phe513Val) c.1675T>G (p.Phe559Val) c.*1318T>G (n.*1318T>G) c.*1600T>G (n.*1600T>G) c.1549T>G (p.Phe517Val) c.1540T>G (p.Phe514Val) c.*1397T>G (n.*1397T>G) c.1603T>G (p.Phe535Val) c.1597T>G (p.Phe533Val) n.1985T>G n.2032T>G c.1744T>G (p.Phe582Val) n.1968T>G n.2214T>G | |
| 7 | g.114659627T>A | CA368965630 | FOXP2 | c.1652T>A (p.Phe551Tyr) c.1592T>A (p.Phe531Tyr) c.1601T>A (p.Phe534Tyr) c.1727T>A (p.Phe576Tyr) c.1046T>A (p.Phe349Tyr) c.545-2438T>A c.*1395T>A (n.*1395T>A) c.1325T>A (p.Phe442Tyr) c.1538T>A (p.Phe513Tyr) c.1676T>A (p.Phe559Tyr) c.*1319T>A (n.*1319T>A) c.*1601T>A (n.*1601T>A) c.1550T>A (p.Phe517Tyr) c.1541T>A (p.Phe514Tyr) c.*1398T>A (n.*1398T>A) c.1604T>A (p.Phe535Tyr) c.1598T>A (p.Phe533Tyr) n.1986T>A n.2033T>A c.1745T>A (p.Phe582Tyr) n.1969T>A n.2215T>A | |
| 7 | g.114659627T>C | CA368965631 | FOXP2 | c.1652T>C (p.Phe551Ser) c.1592T>C (p.Phe531Ser) c.1601T>C (p.Phe534Ser) c.1727T>C (p.Phe576Ser) c.1046T>C (p.Phe349Ser) c.545-2438T>C c.*1395T>C (n.*1395T>C) c.1325T>C (p.Phe442Ser) c.1538T>C (p.Phe513Ser) c.1676T>C (p.Phe559Ser) c.*1319T>C (n.*1319T>C) c.*1601T>C (n.*1601T>C) c.1550T>C (p.Phe517Ser) c.1541T>C (p.Phe514Ser) c.*1398T>C (n.*1398T>C) c.1604T>C (p.Phe535Ser) c.1598T>C (p.Phe533Ser) n.1986T>C n.2033T>C c.1745T>C (p.Phe582Ser) n.1969T>C n.2215T>C | |
| 7 | g.114659627T>G | CA368965632 | FOXP2 | c.1652T>G (p.Phe551Cys) c.1592T>G (p.Phe531Cys) c.1601T>G (p.Phe534Cys) c.1727T>G (p.Phe576Cys) c.1046T>G (p.Phe349Cys) c.545-2438T>G c.*1395T>G (n.*1395T>G) c.1325T>G (p.Phe442Cys) c.1538T>G (p.Phe513Cys) c.1676T>G (p.Phe559Cys) c.*1319T>G (n.*1319T>G) c.*1601T>G (n.*1601T>G) c.1550T>G (p.Phe517Cys) c.1541T>G (p.Phe514Cys) c.*1398T>G (n.*1398T>G) c.1604T>G (p.Phe535Cys) c.1598T>G (p.Phe533Cys) n.1986T>G n.2033T>G c.1745T>G (p.Phe582Cys) n.1969T>G n.2215T>G | |
| 7 | g.114659628T>A | CA368965633 | FOXP2 | c.1653T>A (p.Phe551Leu) c.1593T>A (p.Phe531Leu) c.1602T>A (p.Phe534Leu) c.1728T>A (p.Phe576Leu) c.1047T>A (p.Phe349Leu) c.545-2437T>A c.*1396T>A (n.*1396T>A) c.1326T>A (p.Phe442Leu) c.1539T>A (p.Phe513Leu) c.1677T>A (p.Phe559Leu) c.*1320T>A (n.*1320T>A) c.*1602T>A (n.*1602T>A) c.1551T>A (p.Phe517Leu) c.1542T>A (p.Phe514Leu) c.*1399T>A (n.*1399T>A) c.1605T>A (p.Phe535Leu) c.1599T>A (p.Phe533Leu) n.1987T>A n.2034T>A c.1746T>A (p.Phe582Leu) n.1970T>A n.2216T>A | |
| 7 | g.114659628T>C | CA457220114 | FOXP2 | c.1653T>C (p.Phe551=) c.1593T>C (p.Phe531=) c.1602T>C (p.Phe534=) c.1728T>C (p.Phe576=) c.1047T>C (p.Phe349=) c.545-2437T>C c.*1396T>C (n.*1396T>C) c.1326T>C (p.Phe442=) c.1539T>C (p.Phe513=) c.1677T>C (p.Phe559=) c.*1320T>C (n.*1320T>C) c.*1602T>C (n.*1602T>C) c.1551T>C (p.Phe517=) c.1542T>C (p.Phe514=) c.*1399T>C (n.*1399T>C) c.1605T>C (p.Phe535=) c.1599T>C (p.Phe533=) n.1987T>C n.2034T>C c.1746T>C (p.Phe582=) n.1970T>C n.2216T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.114659628T>G | CA368965634 | FOXP2 | c.1653T>G (p.Phe551Leu) c.1593T>G (p.Phe531Leu) c.1602T>G (p.Phe534Leu) c.1728T>G (p.Phe576Leu) c.1047T>G (p.Phe349Leu) c.545-2437T>G c.*1396T>G (n.*1396T>G) c.1326T>G (p.Phe442Leu) c.1539T>G (p.Phe513Leu) c.1677T>G (p.Phe559Leu) c.*1320T>G (n.*1320T>G) c.*1602T>G (n.*1602T>G) c.1551T>G (p.Phe517Leu) c.1542T>G (p.Phe514Leu) c.*1399T>G (n.*1399T>G) c.1605T>G (p.Phe535Leu) c.1599T>G (p.Phe533Leu) n.1987T>G n.2034T>G c.1746T>G (p.Phe582Leu) n.1970T>G n.2216T>G | |
| 7 | g.114659628T= | CA1736046860 | FOXP2 | c.1653T= (p.Phe551=) c.1593T= (p.Phe531=) c.1602T= (p.Phe534=) c.1728T= (p.Phe576=) c.1047T= (p.Phe349=) c.545-2437T= c.*1396T= (n.*1396T=) c.1326T= (p.Phe442=) c.1539T= (p.Phe513=) c.1677T= (p.Phe559=) c.*1320T= (n.*1320T=) c.*1602T= (n.*1602T=) c.1551T= (p.Phe517=) c.1542T= (p.Phe514=) c.*1399T= (n.*1399T=) c.1605T= (p.Phe535=) c.1599T= (p.Phe533=) n.1987T= n.2034T= c.1746T= (p.Phe582=) n.1970T= n.2216T= | |
| 7 | g.114659629A>C | CA368965635 | FOXP2 | c.1654A>C (p.Thr552Pro) c.1594A>C (p.Thr532Pro) c.1603A>C (p.Thr535Pro) c.1729A>C (p.Thr577Pro) c.1048A>C (p.Thr350Pro) c.545-2436A>C c.*1397A>C (n.*1397A>C) c.1327A>C (p.Thr443Pro) c.1540A>C (p.Thr514Pro) c.1678A>C (p.Thr560Pro) c.*1321A>C (n.*1321A>C) c.*1603A>C (n.*1603A>C) c.1552A>C (p.Thr518Pro) c.1543A>C (p.Thr515Pro) c.*1400A>C (n.*1400A>C) c.1606A>C (p.Thr536Pro) c.1600A>C (p.Thr534Pro) n.1988A>C n.2035A>C c.1747A>C (p.Thr583Pro) n.1971A>C n.2217A>C | COSMIC COSMIC |
| 7 | g.114659629A>G | CA368965636 | FOXP2 | c.1654A>G (p.Thr552Ala) c.1594A>G (p.Thr532Ala) c.1603A>G (p.Thr535Ala) c.1729A>G (p.Thr577Ala) c.1048A>G (p.Thr350Ala) c.545-2436A>G c.*1397A>G (n.*1397A>G) c.1327A>G (p.Thr443Ala) c.1540A>G (p.Thr514Ala) c.1678A>G (p.Thr560Ala) c.*1321A>G (n.*1321A>G) c.*1603A>G (n.*1603A>G) c.1552A>G (p.Thr518Ala) c.1543A>G (p.Thr515Ala) c.*1400A>G (n.*1400A>G) c.1606A>G (p.Thr536Ala) c.1600A>G (p.Thr534Ala) n.1988A>G n.2035A>G c.1747A>G (p.Thr583Ala) n.1971A>G n.2217A>G | |
| 7 | g.114659629A>T | CA368965637 | FOXP2 | c.1654A>T (p.Thr552Ser) c.1594A>T (p.Thr532Ser) c.1603A>T (p.Thr535Ser) c.1729A>T (p.Thr577Ser) c.1048A>T (p.Thr350Ser) c.545-2436A>T c.*1397A>T (n.*1397A>T) c.1327A>T (p.Thr443Ser) c.1540A>T (p.Thr514Ser) c.1678A>T (p.Thr560Ser) c.*1321A>T (n.*1321A>T) c.*1603A>T (n.*1603A>T) c.1552A>T (p.Thr518Ser) c.1543A>T (p.Thr515Ser) c.*1400A>T (n.*1400A>T) c.1606A>T (p.Thr536Ser) c.1600A>T (p.Thr534Ser) n.1988A>T n.2035A>T c.1747A>T (p.Thr583Ser) n.1971A>T n.2217A>T | |
| 7 | g.114659630C>A | CA368965638 | FOXP2 | c.1655C>A (p.Thr552Lys) c.1595C>A (p.Thr532Lys) c.1604C>A (p.Thr535Lys) c.1730C>A (p.Thr577Lys) c.1049C>A (p.Thr350Lys) c.545-2435C>A c.*1398C>A (n.*1398C>A) c.1328C>A (p.Thr443Lys) c.1541C>A (p.Thr514Lys) c.1679C>A (p.Thr560Lys) c.*1322C>A (n.*1322C>A) c.*1604C>A (n.*1604C>A) c.1553C>A (p.Thr518Lys) c.1544C>A (p.Thr515Lys) c.*1401C>A (n.*1401C>A) c.1607C>A (p.Thr536Lys) c.1601C>A (p.Thr534Lys) n.1989C>A n.2036C>A c.1748C>A (p.Thr583Lys) n.1972C>A n.2218C>A | |
| 7 | g.114659630C>G | CA368965639 | FOXP2 | c.1655C>G (p.Thr552Arg) c.1595C>G (p.Thr532Arg) c.1604C>G (p.Thr535Arg) c.1730C>G (p.Thr577Arg) c.1049C>G (p.Thr350Arg) c.545-2435C>G c.*1398C>G (n.*1398C>G) c.1328C>G (p.Thr443Arg) c.1541C>G (p.Thr514Arg) c.1679C>G (p.Thr560Arg) c.*1322C>G (n.*1322C>G) c.*1604C>G (n.*1604C>G) c.1553C>G (p.Thr518Arg) c.1544C>G (p.Thr515Arg) c.*1401C>G (n.*1401C>G) c.1607C>G (p.Thr536Arg) c.1601C>G (p.Thr534Arg) n.1989C>G n.2036C>G c.1748C>G (p.Thr583Arg) n.1972C>G n.2218C>G | |
| 7 | g.114659630C>T | CA368965640 | FOXP2 | c.1655C>T (p.Thr552Ile) c.1595C>T (p.Thr532Ile) c.1604C>T (p.Thr535Ile) c.1730C>T (p.Thr577Ile) c.1049C>T (p.Thr350Ile) c.545-2435C>T c.*1398C>T (n.*1398C>T) c.1328C>T (p.Thr443Ile) c.1541C>T (p.Thr514Ile) c.1679C>T (p.Thr560Ile) c.*1322C>T (n.*1322C>T) c.*1604C>T (n.*1604C>T) c.1553C>T (p.Thr518Ile) c.1544C>T (p.Thr515Ile) c.*1401C>T (n.*1401C>T) c.1607C>T (p.Thr536Ile) c.1601C>T (p.Thr534Ile) n.1989C>T n.2036C>T c.1748C>T (p.Thr583Ile) n.1972C>T n.2218C>T | |
| 7 | g.114659631A>C | CA457220120 | FOXP2 | c.1656A>C (p.Thr552=) c.1596A>C (p.Thr532=) c.1605A>C (p.Thr535=) c.1731A>C (p.Thr577=) c.1050A>C (p.Thr350=) c.545-2434A>C c.*1399A>C (n.*1399A>C) c.1329A>C (p.Thr443=) c.1542A>C (p.Thr514=) c.1680A>C (p.Thr560=) c.*1323A>C (n.*1323A>C) c.*1605A>C (n.*1605A>C) c.1554A>C (p.Thr518=) c.1545A>C (p.Thr515=) c.*1402A>C (n.*1402A>C) c.1608A>C (p.Thr536=) c.1602A>C (p.Thr534=) n.1990A>C n.2037A>C c.1749A>C (p.Thr583=) n.1973A>C n.2219A>C | |
| 7 | g.114659631A>G | CA457220119 | FOXP2 | c.1656A>G (p.Thr552=) c.1596A>G (p.Thr532=) c.1605A>G (p.Thr535=) c.1731A>G (p.Thr577=) c.1050A>G (p.Thr350=) c.545-2434A>G c.*1399A>G (n.*1399A>G) c.1329A>G (p.Thr443=) c.1542A>G (p.Thr514=) c.1680A>G (p.Thr560=) c.*1323A>G (n.*1323A>G) c.*1605A>G (n.*1605A>G) c.1554A>G (p.Thr518=) c.1545A>G (p.Thr515=) c.*1402A>G (n.*1402A>G) c.1608A>G (p.Thr536=) c.1602A>G (p.Thr534=) n.1990A>G n.2037A>G c.1749A>G (p.Thr583=) n.1973A>G n.2219A>G | |
| 7 | g.114659631A>T | CA457220117 | FOXP2 | c.1656A>T (p.Thr552=) c.1596A>T (p.Thr532=) c.1605A>T (p.Thr535=) c.1731A>T (p.Thr577=) c.1050A>T (p.Thr350=) c.545-2434A>T c.*1399A>T (n.*1399A>T) c.1329A>T (p.Thr443=) c.1542A>T (p.Thr514=) c.1680A>T (p.Thr560=) c.*1323A>T (n.*1323A>T) c.*1605A>T (n.*1605A>T) c.1554A>T (p.Thr518=) c.1545A>T (p.Thr515=) c.*1402A>T (n.*1402A>T) c.1608A>T (p.Thr536=) c.1602A>T (p.Thr534=) n.1990A>T n.2037A>T c.1749A>T (p.Thr583=) n.1973A>T n.2219A>T | |
| 7 | g.114659632C>A | CA457220121 | FOXP2 | c.1657C>A (p.Arg553=) c.1597C>A (p.Arg533=) c.1606C>A (p.Arg536=) c.1732C>A (p.Arg578=) c.1051C>A (p.Arg351=) c.545-2433C>A c.*1400C>A (n.*1400C>A) c.1330C>A (p.Arg444=) c.1543C>A (p.Arg515=) c.1681C>A (p.Arg561=) c.*1324C>A (n.*1324C>A) c.*1606C>A (n.*1606C>A) c.1555C>A (p.Arg519=) c.1546C>A (p.Arg516=) c.*1403C>A (n.*1403C>A) c.1609C>A (p.Arg537=) c.1603C>A (p.Arg535=) n.1991C>A n.2038C>A c.1750C>A (p.Arg584=) n.1974C>A n.2220C>A | |
| 7 | g.114659632C= | CA1736046861 | FOXP2 | c.1657C= (p.Arg553=) c.1597C= (p.Arg533=) c.1606C= (p.Arg536=) c.1732C= (p.Arg578=) c.1051C= (p.Arg351=) c.545-2433C= c.*1400C= (n.*1400C=) c.1330C= (p.Arg444=) c.1543C= (p.Arg515=) c.1681C= (p.Arg561=) c.*1324C= (n.*1324C=) c.*1606C= (n.*1606C=) c.1555C= (p.Arg519=) c.1546C= (p.Arg516=) c.*1403C= (n.*1403C=) c.1609C= (p.Arg537=) c.1603C= (p.Arg535=) n.1991C= n.2038C= c.1750C= (p.Arg584=) n.1974C= n.2220C= | |
| 7 | g.114659632C>G | CA4446143 | FOXP2 | c.1657C>G (p.Arg553Gly) c.1597C>G (p.Arg533Gly) c.1606C>G (p.Arg536Gly) c.1732C>G (p.Arg578Gly) c.1051C>G (p.Arg351Gly) c.545-2433C>G c.*1400C>G (n.*1400C>G) c.1330C>G (p.Arg444Gly) c.1543C>G (p.Arg515Gly) c.1681C>G (p.Arg561Gly) c.*1324C>G (n.*1324C>G) c.*1606C>G (n.*1606C>G) c.1555C>G (p.Arg519Gly) c.1546C>G (p.Arg516Gly) c.*1403C>G (n.*1403C>G) c.1609C>G (p.Arg537Gly) c.1603C>G (p.Arg535Gly) n.1991C>G n.2038C>G c.1750C>G (p.Arg584Gly) n.1974C>G n.2220C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |