| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.114662075G>A | CA117244 | FOXP2 | c.1709G>A (p.Arg570His) c.1649G>A (p.Arg550His) c.1658G>A (p.Arg553His) c.1784G>A (p.Arg595His) c.1103G>A (p.Arg368His) c.555G>A c.*1452G>A (n.*1452G>A) c.1382G>A (p.Arg461His) c.1595G>A (p.Arg532His) c.1733G>A (p.Arg578His) c.*1376G>A (n.*1376G>A) c.*1658G>A (n.*1658G>A) c.1607G>A (p.Arg536His) c.1598G>A (p.Arg533His) n.133G>A c.*1455G>A (n.*1455G>A) c.1661G>A (p.Arg554His) c.1655G>A (p.Arg552His) n.2043G>A n.2090G>A c.1802G>A (p.Arg601His) n.2026G>A n.2272G>A | ClinVar dbSNP |
| 7 | g.114662075G>C | CA368965768 | FOXP2 | c.1709G>C (p.Arg570Pro) c.1649G>C (p.Arg550Pro) c.1658G>C (p.Arg553Pro) c.1784G>C (p.Arg595Pro) c.1103G>C (p.Arg368Pro) c.555G>C c.*1452G>C (n.*1452G>C) c.1382G>C (p.Arg461Pro) c.1595G>C (p.Arg532Pro) c.1733G>C (p.Arg578Pro) c.*1376G>C (n.*1376G>C) c.*1658G>C (n.*1658G>C) c.1607G>C (p.Arg536Pro) c.1598G>C (p.Arg533Pro) n.133G>C c.*1455G>C (n.*1455G>C) c.1661G>C (p.Arg554Pro) c.1655G>C (p.Arg552Pro) n.2043G>C n.2090G>C c.1802G>C (p.Arg601Pro) n.2026G>C n.2272G>C | |
| 7 | g.114662075G= | CA1736047853 | FOXP2 | c.1709G= (p.Arg570=) c.1649G= (p.Arg550=) c.1658G= (p.Arg553=) c.1784G= (p.Arg595=) c.1103G= (p.Arg368=) c.555G= c.*1452G= (n.*1452G=) c.1382G= (p.Arg461=) c.1595G= (p.Arg532=) c.1733G= (p.Arg578=) c.*1376G= (n.*1376G=) c.*1658G= (n.*1658G=) c.1607G= (p.Arg536=) c.1598G= (p.Arg533=) n.133G= c.*1455G= (n.*1455G=) c.1661G= (p.Arg554=) c.1655G= (p.Arg552=) n.2043G= n.2090G= c.1802G= (p.Arg601=) n.2026G= n.2272G= | |
| 7 | g.114662075G>T | CA368965769 | FOXP2 | c.1709G>T (p.Arg570Leu) c.1649G>T (p.Arg550Leu) c.1658G>T (p.Arg553Leu) c.1784G>T (p.Arg595Leu) c.1103G>T (p.Arg368Leu) c.555G>T c.*1452G>T (n.*1452G>T) c.1382G>T (p.Arg461Leu) c.1595G>T (p.Arg532Leu) c.1733G>T (p.Arg578Leu) c.*1376G>T (n.*1376G>T) c.*1658G>T (n.*1658G>T) c.1607G>T (p.Arg536Leu) c.1598G>T (p.Arg533Leu) n.133G>T c.*1455G>T (n.*1455G>T) c.1661G>T (p.Arg554Leu) c.1655G>T (p.Arg552Leu) n.2043G>T n.2090G>T c.1802G>T (p.Arg601Leu) n.2026G>T n.2272G>T | |
| 7 | g.114662076T>A | CA457220195 | FOXP2 | c.1710T>A (p.Arg570=) c.1650T>A (p.Arg550=) c.1659T>A (p.Arg553=) c.1785T>A (p.Arg595=) c.1104T>A (p.Arg368=) c.556T>A c.*1453T>A (n.*1453T>A) c.1383T>A (p.Arg461=) c.1596T>A (p.Arg532=) c.1734T>A (p.Arg578=) c.*1377T>A (n.*1377T>A) c.*1659T>A (n.*1659T>A) c.1608T>A (p.Arg536=) c.1599T>A (p.Arg533=) n.134T>A c.*1456T>A (n.*1456T>A) c.1662T>A (p.Arg554=) c.1656T>A (p.Arg552=) n.2044T>A n.2091T>A c.1803T>A (p.Arg601=) n.2027T>A n.2273T>A | |
| 7 | g.114662076T>C | CA457220196 | FOXP2 | c.1710T>C (p.Arg570=) c.1650T>C (p.Arg550=) c.1659T>C (p.Arg553=) c.1785T>C (p.Arg595=) c.1104T>C (p.Arg368=) c.556T>C c.*1453T>C (n.*1453T>C) c.1383T>C (p.Arg461=) c.1596T>C (p.Arg532=) c.1734T>C (p.Arg578=) c.*1377T>C (n.*1377T>C) c.*1659T>C (n.*1659T>C) c.1608T>C (p.Arg536=) c.1599T>C (p.Arg533=) n.134T>C c.*1456T>C (n.*1456T>C) c.1662T>C (p.Arg554=) c.1656T>C (p.Arg552=) n.2044T>C n.2091T>C c.1803T>C (p.Arg601=) n.2027T>C n.2273T>C | |
| 7 | g.114662076T>G | CA457220197 | FOXP2 | c.1710T>G (p.Arg570=) c.1650T>G (p.Arg550=) c.1659T>G (p.Arg553=) c.1785T>G (p.Arg595=) c.1104T>G (p.Arg368=) c.556T>G c.*1453T>G (n.*1453T>G) c.1383T>G (p.Arg461=) c.1596T>G (p.Arg532=) c.1734T>G (p.Arg578=) c.*1377T>G (n.*1377T>G) c.*1659T>G (n.*1659T>G) c.1608T>G (p.Arg536=) c.1599T>G (p.Arg533=) n.134T>G c.*1456T>G (n.*1456T>G) c.1662T>G (p.Arg554=) c.1656T>G (p.Arg552=) n.2044T>G n.2091T>G c.1803T>G (p.Arg601=) n.2027T>G n.2273T>G | |
| 7 | g.114662077C>A | CA368965772 | FOXP2 | c.1711C>A (p.His571Asn) c.1651C>A (p.His551Asn) c.1660C>A (p.His554Asn) c.1786C>A (p.His596Asn) c.1105C>A (p.His369Asn) c.557C>A c.*1454C>A (n.*1454C>A) c.1384C>A (p.His462Asn) c.1597C>A (p.His533Asn) c.1735C>A (p.His579Asn) c.*1378C>A (n.*1378C>A) c.*1660C>A (n.*1660C>A) c.1609C>A (p.His537Asn) c.1600C>A (p.His534Asn) n.135C>A c.*1457C>A (n.*1457C>A) c.1663C>A (p.His555Asn) c.1657C>A (p.His553Asn) n.2045C>A n.2092C>A c.1804C>A (p.His602Asn) n.2028C>A n.2274C>A | |
| 7 | g.114662077C>G | CA368965770 | FOXP2 | c.1711C>G (p.His571Asp) c.1651C>G (p.His551Asp) c.1660C>G (p.His554Asp) c.1786C>G (p.His596Asp) c.1105C>G (p.His369Asp) c.557C>G c.*1454C>G (n.*1454C>G) c.1384C>G (p.His462Asp) c.1597C>G (p.His533Asp) c.1735C>G (p.His579Asp) c.*1378C>G (n.*1378C>G) c.*1660C>G (n.*1660C>G) c.1609C>G (p.His537Asp) c.1600C>G (p.His534Asp) n.135C>G c.*1457C>G (n.*1457C>G) c.1663C>G (p.His555Asp) c.1657C>G (p.His553Asp) n.2045C>G n.2092C>G c.1804C>G (p.His602Asp) n.2028C>G n.2274C>G | |
| 7 | g.114662077C>T | CA368965771 | FOXP2 | c.1711C>T (p.His571Tyr) c.1651C>T (p.His551Tyr) c.1660C>T (p.His554Tyr) c.1786C>T (p.His596Tyr) c.1105C>T (p.His369Tyr) c.557C>T c.*1454C>T (n.*1454C>T) c.1384C>T (p.His462Tyr) c.1597C>T (p.His533Tyr) c.1735C>T (p.His579Tyr) c.*1378C>T (n.*1378C>T) c.*1660C>T (n.*1660C>T) c.1609C>T (p.His537Tyr) c.1600C>T (p.His534Tyr) n.135C>T c.*1457C>T (n.*1457C>T) c.1663C>T (p.His555Tyr) c.1657C>T (p.His553Tyr) n.2045C>T n.2092C>T c.1804C>T (p.His602Tyr) n.2028C>T n.2274C>T | |
| 7 | g.114662078A>C | CA368965773 | FOXP2 | c.1712A>C (p.His571Pro) c.1652A>C (p.His551Pro) c.1661A>C (p.His554Pro) c.1787A>C (p.His596Pro) c.1106A>C (p.His369Pro) c.558A>C c.*1455A>C (n.*1455A>C) c.1385A>C (p.His462Pro) c.1598A>C (p.His533Pro) c.1736A>C (p.His579Pro) c.*1379A>C (n.*1379A>C) c.*1661A>C (n.*1661A>C) c.1610A>C (p.His537Pro) c.1601A>C (p.His534Pro) n.136A>C c.*1458A>C (n.*1458A>C) c.1664A>C (p.His555Pro) c.1658A>C (p.His553Pro) n.2046A>C n.2093A>C c.1805A>C (p.His602Pro) n.2029A>C n.2275A>C | |
| 7 | g.114662078A>G | CA368965774 | FOXP2 | c.1712A>G (p.His571Arg) c.1652A>G (p.His551Arg) c.1661A>G (p.His554Arg) c.1787A>G (p.His596Arg) c.1106A>G (p.His369Arg) c.558A>G c.*1455A>G (n.*1455A>G) c.1385A>G (p.His462Arg) c.1598A>G (p.His533Arg) c.1736A>G (p.His579Arg) c.*1379A>G (n.*1379A>G) c.*1661A>G (n.*1661A>G) c.1610A>G (p.His537Arg) c.1601A>G (p.His534Arg) n.136A>G c.*1458A>G (n.*1458A>G) c.1664A>G (p.His555Arg) c.1658A>G (p.His553Arg) n.2046A>G n.2093A>G c.1805A>G (p.His602Arg) n.2029A>G n.2275A>G | ClinVar |
| 7 | g.114662078A>T | CA368965775 | FOXP2 | c.1712A>T (p.His571Leu) c.1652A>T (p.His551Leu) c.1661A>T (p.His554Leu) c.1787A>T (p.His596Leu) c.1106A>T (p.His369Leu) c.558A>T c.*1455A>T (n.*1455A>T) c.1385A>T (p.His462Leu) c.1598A>T (p.His533Leu) c.1736A>T (p.His579Leu) c.*1379A>T (n.*1379A>T) c.*1661A>T (n.*1661A>T) c.1610A>T (p.His537Leu) c.1601A>T (p.His534Leu) n.136A>T c.*1458A>T (n.*1458A>T) c.1664A>T (p.His555Leu) c.1658A>T (p.His553Leu) n.2046A>T n.2093A>T c.1805A>T (p.His602Leu) n.2029A>T n.2275A>T | |
| 7 | g.114662079T>A | CA368965776 | FOXP2 | c.1713T>A (p.His571Gln) c.1653T>A (p.His551Gln) c.1662T>A (p.His554Gln) c.1788T>A (p.His596Gln) c.1107T>A (p.His369Gln) c.559T>A c.*1456T>A (n.*1456T>A) c.1386T>A (p.His462Gln) c.1599T>A (p.His533Gln) c.1737T>A (p.His579Gln) c.*1380T>A (n.*1380T>A) c.*1662T>A (n.*1662T>A) c.1611T>A (p.His537Gln) c.1602T>A (p.His534Gln) n.137T>A c.*1459T>A (n.*1459T>A) c.1665T>A (p.His555Gln) c.1659T>A (p.His553Gln) n.2047T>A n.2094T>A c.1806T>A (p.His602Gln) n.2030T>A n.2276T>A | |
| 7 | g.114662079T>C | CA4446177 | FOXP2 | c.1713T>C (p.His571=) c.1653T>C (p.His551=) c.1662T>C (p.His554=) c.1788T>C (p.His596=) c.1107T>C (p.His369=) c.559T>C c.*1456T>C (n.*1456T>C) c.1386T>C (p.His462=) c.1599T>C (p.His533=) c.1737T>C (p.His579=) c.*1380T>C (n.*1380T>C) c.*1662T>C (n.*1662T>C) c.1611T>C (p.His537=) c.1602T>C (p.His534=) n.137T>C c.*1459T>C (n.*1459T>C) c.1665T>C (p.His555=) c.1659T>C (p.His553=) n.2047T>C n.2094T>C c.1806T>C (p.His602=) n.2030T>C n.2276T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.114662079T>G | CA368965777 | FOXP2 | c.1713T>G (p.His571Gln) c.1653T>G (p.His551Gln) c.1662T>G (p.His554Gln) c.1788T>G (p.His596Gln) c.1107T>G (p.His369Gln) c.559T>G c.*1456T>G (n.*1456T>G) c.1386T>G (p.His462Gln) c.1599T>G (p.His533Gln) c.1737T>G (p.His579Gln) c.*1380T>G (n.*1380T>G) c.*1662T>G (n.*1662T>G) c.1611T>G (p.His537Gln) c.1602T>G (p.His534Gln) n.137T>G c.*1459T>G (n.*1459T>G) c.1665T>G (p.His555Gln) c.1659T>G (p.His553Gln) n.2047T>G n.2094T>G c.1806T>G (p.His602Gln) n.2030T>G n.2276T>G | |
| 7 | g.114662079T= | CA1736047854 | FOXP2 | c.1713T= (p.His571=) c.1653T= (p.His551=) c.1662T= (p.His554=) c.1788T= (p.His596=) c.1107T= (p.His369=) c.559T= c.*1456T= (n.*1456T=) c.1386T= (p.His462=) c.1599T= (p.His533=) c.1737T= (p.His579=) c.*1380T= (n.*1380T=) c.*1662T= (n.*1662T=) c.1611T= (p.His537=) c.1602T= (p.His534=) n.137T= c.*1459T= (n.*1459T=) c.1665T= (p.His555=) c.1659T= (p.His553=) n.2047T= n.2094T= c.1806T= (p.His602=) n.2030T= n.2276T= | |
| 7 | g.114662080A>C | CA368965778 | FOXP2 | c.1714A>C (p.Asn572His) c.1654A>C (p.Asn552His) c.1663A>C (p.Asn555His) c.1789A>C (p.Asn597His) c.1108A>C (p.Asn370His) c.560A>C c.*1457A>C (n.*1457A>C) c.1387A>C (p.Asn463His) c.1600A>C (p.Asn534His) c.1738A>C (p.Asn580His) c.*1381A>C (n.*1381A>C) c.*1663A>C (n.*1663A>C) c.1612A>C (p.Asn538His) c.1603A>C (p.Asn535His) n.138A>C c.*1460A>C (n.*1460A>C) c.1666A>C (p.Asn556His) c.1660A>C (p.Asn554His) n.2048A>C n.2095A>C c.1807A>C (p.Asn603His) n.2031A>C n.2277A>C | |
| 7 | g.114662080A>G | CA368965779 | FOXP2 | c.1714A>G (p.Asn572Asp) c.1654A>G (p.Asn552Asp) c.1663A>G (p.Asn555Asp) c.1789A>G (p.Asn597Asp) c.1108A>G (p.Asn370Asp) c.560A>G c.*1457A>G (n.*1457A>G) c.1387A>G (p.Asn463Asp) c.1600A>G (p.Asn534Asp) c.1738A>G (p.Asn580Asp) c.*1381A>G (n.*1381A>G) c.*1663A>G (n.*1663A>G) c.1612A>G (p.Asn538Asp) c.1603A>G (p.Asn535Asp) n.138A>G c.*1460A>G (n.*1460A>G) c.1666A>G (p.Asn556Asp) c.1660A>G (p.Asn554Asp) n.2048A>G n.2095A>G c.1807A>G (p.Asn603Asp) n.2031A>G n.2277A>G | |
| 7 | g.114662080A>T | CA368965780 | FOXP2 | c.1714A>T (p.Asn572Tyr) c.1654A>T (p.Asn552Tyr) c.1663A>T (p.Asn555Tyr) c.1789A>T (p.Asn597Tyr) c.1108A>T (p.Asn370Tyr) c.560A>T c.*1457A>T (n.*1457A>T) c.1387A>T (p.Asn463Tyr) c.1600A>T (p.Asn534Tyr) c.1738A>T (p.Asn580Tyr) c.*1381A>T (n.*1381A>T) c.*1663A>T (n.*1663A>T) c.1612A>T (p.Asn538Tyr) c.1603A>T (p.Asn535Tyr) n.138A>T c.*1460A>T (n.*1460A>T) c.1666A>T (p.Asn556Tyr) c.1660A>T (p.Asn554Tyr) n.2048A>T n.2095A>T c.1807A>T (p.Asn603Tyr) n.2031A>T n.2277A>T | |
| 7 | g.114662081A>C | CA368965781 | FOXP2 | c.1715A>C (p.Asn572Thr) c.1655A>C (p.Asn552Thr) c.1664A>C (p.Asn555Thr) c.1790A>C (p.Asn597Thr) c.1109A>C (p.Asn370Thr) c.561A>C c.*1458A>C (n.*1458A>C) c.1388A>C (p.Asn463Thr) c.1601A>C (p.Asn534Thr) c.1739A>C (p.Asn580Thr) c.*1382A>C (n.*1382A>C) c.*1664A>C (n.*1664A>C) c.1613A>C (p.Asn538Thr) c.1604A>C (p.Asn535Thr) n.139A>C c.*1461A>C (n.*1461A>C) c.1667A>C (p.Asn556Thr) c.1661A>C (p.Asn554Thr) n.2049A>C n.2096A>C c.1808A>C (p.Asn603Thr) n.2032A>C n.2278A>C | |
| 7 | g.114662081A>G | CA368965782 | FOXP2 | c.1715A>G (p.Asn572Ser) c.1655A>G (p.Asn552Ser) c.1664A>G (p.Asn555Ser) c.1790A>G (p.Asn597Ser) c.1109A>G (p.Asn370Ser) c.561A>G c.*1458A>G (n.*1458A>G) c.1388A>G (p.Asn463Ser) c.1601A>G (p.Asn534Ser) c.1739A>G (p.Asn580Ser) c.*1382A>G (n.*1382A>G) c.*1664A>G (n.*1664A>G) c.1613A>G (p.Asn538Ser) c.1604A>G (p.Asn535Ser) n.139A>G c.*1461A>G (n.*1461A>G) c.1667A>G (p.Asn556Ser) c.1661A>G (p.Asn554Ser) n.2049A>G n.2096A>G c.1808A>G (p.Asn603Ser) n.2032A>G n.2278A>G | COSMIC |
| 7 | g.114662081A>T | CA368965783 | FOXP2 | c.1715A>T (p.Asn572Ile) c.1655A>T (p.Asn552Ile) c.1664A>T (p.Asn555Ile) c.1790A>T (p.Asn597Ile) c.1109A>T (p.Asn370Ile) c.561A>T c.*1458A>T (n.*1458A>T) c.1388A>T (p.Asn463Ile) c.1601A>T (p.Asn534Ile) c.1739A>T (p.Asn580Ile) c.*1382A>T (n.*1382A>T) c.*1664A>T (n.*1664A>T) c.1613A>T (p.Asn538Ile) c.1604A>T (p.Asn535Ile) n.139A>T c.*1461A>T (n.*1461A>T) c.1667A>T (p.Asn556Ile) c.1661A>T (p.Asn554Ile) n.2049A>T n.2096A>T c.1808A>T (p.Asn603Ile) n.2032A>T n.2278A>T | |
| 7 | g.114662082T>A | CA368965785 | FOXP2 | c.1716T>A (p.Asn572Lys) c.1656T>A (p.Asn552Lys) c.1665T>A (p.Asn555Lys) c.1791T>A (p.Asn597Lys) c.1110T>A (p.Asn370Lys) c.562T>A c.*1459T>A (n.*1459T>A) c.1389T>A (p.Asn463Lys) c.1602T>A (p.Asn534Lys) c.1740T>A (p.Asn580Lys) c.*1383T>A (n.*1383T>A) c.*1665T>A (n.*1665T>A) c.1614T>A (p.Asn538Lys) c.1605T>A (p.Asn535Lys) n.140T>A c.*1462T>A (n.*1462T>A) c.1668T>A (p.Asn556Lys) c.1662T>A (p.Asn554Lys) n.2050T>A n.2097T>A c.1809T>A (p.Asn603Lys) n.2033T>A n.2279T>A | |
| 7 | g.114662082T>C | CA457220202 | FOXP2 | c.1716T>C (p.Asn572=) c.1656T>C (p.Asn552=) c.1665T>C (p.Asn555=) c.1791T>C (p.Asn597=) c.1110T>C (p.Asn370=) c.562T>C c.*1459T>C (n.*1459T>C) c.1389T>C (p.Asn463=) c.1602T>C (p.Asn534=) c.1740T>C (p.Asn580=) c.*1383T>C (n.*1383T>C) c.*1665T>C (n.*1665T>C) c.1614T>C (p.Asn538=) c.1605T>C (p.Asn535=) n.140T>C c.*1462T>C (n.*1462T>C) c.1668T>C (p.Asn556=) c.1662T>C (p.Asn554=) n.2050T>C n.2097T>C c.1809T>C (p.Asn603=) n.2033T>C n.2279T>C | gnomAD v4 |
| 7 | g.114662082T>G | CA368965784 | FOXP2 | c.1716T>G (p.Asn572Lys) c.1656T>G (p.Asn552Lys) c.1665T>G (p.Asn555Lys) c.1791T>G (p.Asn597Lys) c.1110T>G (p.Asn370Lys) c.562T>G c.*1459T>G (n.*1459T>G) c.1389T>G (p.Asn463Lys) c.1602T>G (p.Asn534Lys) c.1740T>G (p.Asn580Lys) c.*1383T>G (n.*1383T>G) c.*1665T>G (n.*1665T>G) c.1614T>G (p.Asn538Lys) c.1605T>G (p.Asn535Lys) n.140T>G c.*1462T>G (n.*1462T>G) c.1668T>G (p.Asn556Lys) c.1662T>G (p.Asn554Lys) n.2050T>G n.2097T>G c.1809T>G (p.Asn603Lys) n.2033T>G n.2279T>G | |
| 7 | g.114662083C>A | CA368965786 | FOXP2 | c.1717C>A (p.Leu573Ile) c.1657C>A (p.Leu553Ile) c.1666C>A (p.Leu556Ile) c.1792C>A (p.Leu598Ile) c.1111C>A (p.Leu371Ile) c.563C>A c.*1460C>A (n.*1460C>A) c.1390C>A (p.Leu464Ile) c.1603C>A (p.Leu535Ile) c.1741C>A (p.Leu581Ile) c.*1384C>A (n.*1384C>A) c.*1666C>A (n.*1666C>A) c.1615C>A (p.Leu539Ile) c.1606C>A (p.Leu536Ile) n.141C>A c.*1463C>A (n.*1463C>A) c.1669C>A (p.Leu557Ile) c.1663C>A (p.Leu555Ile) n.2051C>A n.2098C>A c.1810C>A (p.Leu604Ile) n.2034C>A n.2280C>A | |
| 7 | g.114662083C>G | CA368965787 | FOXP2 | c.1717C>G (p.Leu573Val) c.1657C>G (p.Leu553Val) c.1666C>G (p.Leu556Val) c.1792C>G (p.Leu598Val) c.1111C>G (p.Leu371Val) c.563C>G c.*1460C>G (n.*1460C>G) c.1390C>G (p.Leu464Val) c.1603C>G (p.Leu535Val) c.1741C>G (p.Leu581Val) c.*1384C>G (n.*1384C>G) c.*1666C>G (n.*1666C>G) c.1615C>G (p.Leu539Val) c.1606C>G (p.Leu536Val) n.141C>G c.*1463C>G (n.*1463C>G) c.1669C>G (p.Leu557Val) c.1663C>G (p.Leu555Val) n.2051C>G n.2098C>G c.1810C>G (p.Leu604Val) n.2034C>G n.2280C>G | |
| 7 | g.114662083C>T | CA368965788 | FOXP2 | c.1717C>T (p.Leu573Phe) c.1657C>T (p.Leu553Phe) c.1666C>T (p.Leu556Phe) c.1792C>T (p.Leu598Phe) c.1111C>T (p.Leu371Phe) c.563C>T c.*1460C>T (n.*1460C>T) c.1390C>T (p.Leu464Phe) c.1603C>T (p.Leu535Phe) c.1741C>T (p.Leu581Phe) c.*1384C>T (n.*1384C>T) c.*1666C>T (n.*1666C>T) c.1615C>T (p.Leu539Phe) c.1606C>T (p.Leu536Phe) n.141C>T c.*1463C>T (n.*1463C>T) c.1669C>T (p.Leu557Phe) c.1663C>T (p.Leu555Phe) n.2051C>T n.2098C>T c.1810C>T (p.Leu604Phe) n.2034C>T n.2280C>T | |
| 7 | g.114662084T>A | CA368965789 | FOXP2 | c.1718T>A (p.Leu573His) c.1658T>A (p.Leu553His) c.1667T>A (p.Leu556His) c.1793T>A (p.Leu598His) c.1112T>A (p.Leu371His) c.564T>A c.*1461T>A (n.*1461T>A) c.1391T>A (p.Leu464His) c.1604T>A (p.Leu535His) c.1742T>A (p.Leu581His) c.*1385T>A (n.*1385T>A) c.*1667T>A (n.*1667T>A) c.1616T>A (p.Leu539His) c.1607T>A (p.Leu536His) n.142T>A c.*1464T>A (n.*1464T>A) c.1670T>A (p.Leu557His) c.1664T>A (p.Leu555His) n.2052T>A n.2099T>A c.1811T>A (p.Leu604His) n.2035T>A n.2281T>A | |
| 7 | g.114662084T>C | CA368965790 | FOXP2 | c.1718T>C (p.Leu573Pro) c.1658T>C (p.Leu553Pro) c.1667T>C (p.Leu556Pro) c.1793T>C (p.Leu598Pro) c.1112T>C (p.Leu371Pro) c.564T>C c.*1461T>C (n.*1461T>C) c.1391T>C (p.Leu464Pro) c.1604T>C (p.Leu535Pro) c.1742T>C (p.Leu581Pro) c.*1385T>C (n.*1385T>C) c.*1667T>C (n.*1667T>C) c.1616T>C (p.Leu539Pro) c.1607T>C (p.Leu536Pro) n.142T>C c.*1464T>C (n.*1464T>C) c.1670T>C (p.Leu557Pro) c.1664T>C (p.Leu555Pro) n.2052T>C n.2099T>C c.1811T>C (p.Leu604Pro) n.2035T>C n.2281T>C | |
| 7 | g.114662084T>G | CA368965791 | FOXP2 | c.1718T>G (p.Leu573Arg) c.1658T>G (p.Leu553Arg) c.1667T>G (p.Leu556Arg) c.1793T>G (p.Leu598Arg) c.1112T>G (p.Leu371Arg) c.564T>G c.*1461T>G (n.*1461T>G) c.1391T>G (p.Leu464Arg) c.1604T>G (p.Leu535Arg) c.1742T>G (p.Leu581Arg) c.*1385T>G (n.*1385T>G) c.*1667T>G (n.*1667T>G) c.1616T>G (p.Leu539Arg) c.1607T>G (p.Leu536Arg) n.142T>G c.*1464T>G (n.*1464T>G) c.1670T>G (p.Leu557Arg) c.1664T>G (p.Leu555Arg) n.2052T>G n.2099T>G c.1811T>G (p.Leu604Arg) n.2035T>G n.2281T>G | |
| 7 | g.114662085T>A | CA457220204 | FOXP2 | c.1719T>A (p.Leu573=) c.1659T>A (p.Leu553=) c.1668T>A (p.Leu556=) c.1794T>A (p.Leu598=) c.1113T>A (p.Leu371=) c.565T>A c.*1462T>A (n.*1462T>A) c.1392T>A (p.Leu464=) c.1605T>A (p.Leu535=) c.1743T>A (p.Leu581=) c.*1386T>A (n.*1386T>A) c.*1668T>A (n.*1668T>A) c.1617T>A (p.Leu539=) c.1608T>A (p.Leu536=) n.143T>A c.*1465T>A (n.*1465T>A) c.1671T>A (p.Leu557=) c.1665T>A (p.Leu555=) n.2053T>A n.2100T>A c.1812T>A (p.Leu604=) n.2036T>A n.2282T>A | |
| 7 | g.114662085T>C | CA457220205 | FOXP2 | c.1719T>C (p.Leu573=) c.1659T>C (p.Leu553=) c.1668T>C (p.Leu556=) c.1794T>C (p.Leu598=) c.1113T>C (p.Leu371=) c.565T>C c.*1462T>C (n.*1462T>C) c.1392T>C (p.Leu464=) c.1605T>C (p.Leu535=) c.1743T>C (p.Leu581=) c.*1386T>C (n.*1386T>C) c.*1668T>C (n.*1668T>C) c.1617T>C (p.Leu539=) c.1608T>C (p.Leu536=) n.143T>C c.*1465T>C (n.*1465T>C) c.1671T>C (p.Leu557=) c.1665T>C (p.Leu555=) n.2053T>C n.2100T>C c.1812T>C (p.Leu604=) n.2036T>C n.2282T>C | |
| 7 | g.114662085T>G | CA457220206 | FOXP2 | c.1719T>G (p.Leu573=) c.1659T>G (p.Leu553=) c.1668T>G (p.Leu556=) c.1794T>G (p.Leu598=) c.1113T>G (p.Leu371=) c.565T>G c.*1462T>G (n.*1462T>G) c.1392T>G (p.Leu464=) c.1605T>G (p.Leu535=) c.1743T>G (p.Leu581=) c.*1386T>G (n.*1386T>G) c.*1668T>G (n.*1668T>G) c.1617T>G (p.Leu539=) c.1608T>G (p.Leu536=) n.143T>G c.*1465T>G (n.*1465T>G) c.1671T>G (p.Leu557=) c.1665T>G (p.Leu555=) n.2053T>G n.2100T>G c.1812T>G (p.Leu604=) n.2036T>G n.2282T>G | |
| 7 | g.114662086A>C | CA368965792 | FOXP2 | c.1720A>C (p.Ser574Arg) c.1660A>C (p.Ser554Arg) c.1669A>C (p.Ser557Arg) c.1795A>C (p.Ser599Arg) c.1114A>C (p.Ser372Arg) c.566A>C c.*1463A>C (n.*1463A>C) c.1393A>C (p.Ser465Arg) c.1606A>C (p.Ser536Arg) c.1744A>C (p.Ser582Arg) c.*1387A>C (n.*1387A>C) c.*1669A>C (n.*1669A>C) c.1618A>C (p.Ser540Arg) c.1609A>C (p.Ser537Arg) n.144A>C c.*1466A>C (n.*1466A>C) c.1672A>C (p.Ser558Arg) c.1666A>C (p.Ser556Arg) n.2054A>C n.2101A>C c.1813A>C (p.Ser605Arg) n.2037A>C n.2283A>C | |
| 7 | g.114662086A>G | CA368965793 | FOXP2 | c.1720A>G (p.Ser574Gly) c.1660A>G (p.Ser554Gly) c.1669A>G (p.Ser557Gly) c.1795A>G (p.Ser599Gly) c.1114A>G (p.Ser372Gly) c.566A>G c.*1463A>G (n.*1463A>G) c.1393A>G (p.Ser465Gly) c.1606A>G (p.Ser536Gly) c.1744A>G (p.Ser582Gly) c.*1387A>G (n.*1387A>G) c.*1669A>G (n.*1669A>G) c.1618A>G (p.Ser540Gly) c.1609A>G (p.Ser537Gly) n.144A>G c.*1466A>G (n.*1466A>G) c.1672A>G (p.Ser558Gly) c.1666A>G (p.Ser556Gly) n.2054A>G n.2101A>G c.1813A>G (p.Ser605Gly) n.2037A>G n.2283A>G | COSMIC COSMIC |
| 7 | g.114662086A>T | CA368965794 | FOXP2 | c.1720A>T (p.Ser574Cys) c.1660A>T (p.Ser554Cys) c.1669A>T (p.Ser557Cys) c.1795A>T (p.Ser599Cys) c.1114A>T (p.Ser372Cys) c.566A>T c.*1463A>T (n.*1463A>T) c.1393A>T (p.Ser465Cys) c.1606A>T (p.Ser536Cys) c.1744A>T (p.Ser582Cys) c.*1387A>T (n.*1387A>T) c.*1669A>T (n.*1669A>T) c.1618A>T (p.Ser540Cys) c.1609A>T (p.Ser537Cys) n.144A>T c.*1466A>T (n.*1466A>T) c.1672A>T (p.Ser558Cys) c.1666A>T (p.Ser556Cys) n.2054A>T n.2101A>T c.1813A>T (p.Ser605Cys) n.2037A>T n.2283A>T | |
| 7 | g.114662087G>A | CA368965795 | FOXP2 | c.1721G>A (p.Ser574Asn) c.1661G>A (p.Ser554Asn) c.1670G>A (p.Ser557Asn) c.1796G>A (p.Ser599Asn) c.1115G>A (p.Ser372Asn) c.567G>A c.*1464G>A (n.*1464G>A) c.1394G>A (p.Ser465Asn) c.1607G>A (p.Ser536Asn) c.1745G>A (p.Ser582Asn) c.*1388G>A (n.*1388G>A) c.*1670G>A (n.*1670G>A) c.1619G>A (p.Ser540Asn) c.1610G>A (p.Ser537Asn) n.145G>A c.*1467G>A (n.*1467G>A) c.1673G>A (p.Ser558Asn) c.1667G>A (p.Ser556Asn) n.2055G>A n.2102G>A c.1814G>A (p.Ser605Asn) n.2038G>A n.2284G>A | |
| 7 | g.114662087G>C | CA368965796 | FOXP2 | c.1721G>C (p.Ser574Thr) c.1661G>C (p.Ser554Thr) c.1670G>C (p.Ser557Thr) c.1796G>C (p.Ser599Thr) c.1115G>C (p.Ser372Thr) c.567G>C c.*1464G>C (n.*1464G>C) c.1394G>C (p.Ser465Thr) c.1607G>C (p.Ser536Thr) c.1745G>C (p.Ser582Thr) c.*1388G>C (n.*1388G>C) c.*1670G>C (n.*1670G>C) c.1619G>C (p.Ser540Thr) c.1610G>C (p.Ser537Thr) n.145G>C c.*1467G>C (n.*1467G>C) c.1673G>C (p.Ser558Thr) c.1667G>C (p.Ser556Thr) n.2055G>C n.2102G>C c.1814G>C (p.Ser605Thr) n.2038G>C n.2284G>C | |
| 7 | g.114662087G>T | CA368965797 | FOXP2 | c.1721G>T (p.Ser574Ile) c.1661G>T (p.Ser554Ile) c.1670G>T (p.Ser557Ile) c.1796G>T (p.Ser599Ile) c.1115G>T (p.Ser372Ile) c.567G>T c.*1464G>T (n.*1464G>T) c.1394G>T (p.Ser465Ile) c.1607G>T (p.Ser536Ile) c.1745G>T (p.Ser582Ile) c.*1388G>T (n.*1388G>T) c.*1670G>T (n.*1670G>T) c.1619G>T (p.Ser540Ile) c.1610G>T (p.Ser537Ile) n.145G>T c.*1467G>T (n.*1467G>T) c.1673G>T (p.Ser558Ile) c.1667G>T (p.Ser556Ile) n.2055G>T n.2102G>T c.1814G>T (p.Ser605Ile) n.2038G>T n.2284G>T | |
| 7 | g.114662088C>A | CA368965798 | FOXP2 | c.1722C>A (p.Ser574Arg) c.1662C>A (p.Ser554Arg) c.1671C>A (p.Ser557Arg) c.1797C>A (p.Ser599Arg) c.1116C>A (p.Ser372Arg) c.568C>A c.*1465C>A (n.*1465C>A) c.1395C>A (p.Ser465Arg) c.1608C>A (p.Ser536Arg) c.1746C>A (p.Ser582Arg) c.*1389C>A (n.*1389C>A) c.*1671C>A (n.*1671C>A) c.1620C>A (p.Ser540Arg) c.1611C>A (p.Ser537Arg) n.146C>A c.*1468C>A (n.*1468C>A) c.1674C>A (p.Ser558Arg) c.1668C>A (p.Ser556Arg) n.2056C>A n.2103C>A c.1815C>A (p.Ser605Arg) n.2039C>A n.2285C>A | |
| 7 | g.114662088C= | CA1736047855 | FOXP2 | c.1722C= (p.Ser574=) c.1662C= (p.Ser554=) c.1671C= (p.Ser557=) c.1797C= (p.Ser599=) c.1116C= (p.Ser372=) c.568C= c.*1465C= (n.*1465C=) c.1395C= (p.Ser465=) c.1608C= (p.Ser536=) c.1746C= (p.Ser582=) c.*1389C= (n.*1389C=) c.*1671C= (n.*1671C=) c.1620C= (p.Ser540=) c.1611C= (p.Ser537=) n.146C= c.*1468C= (n.*1468C=) c.1674C= (p.Ser558=) c.1668C= (p.Ser556=) n.2056C= n.2103C= c.1815C= (p.Ser605=) n.2039C= n.2285C= | |
| 7 | g.114662088C>G | CA368965799 | FOXP2 | c.1722C>G (p.Ser574Arg) c.1662C>G (p.Ser554Arg) c.1671C>G (p.Ser557Arg) c.1797C>G (p.Ser599Arg) c.1116C>G (p.Ser372Arg) c.568C>G c.*1465C>G (n.*1465C>G) c.1395C>G (p.Ser465Arg) c.1608C>G (p.Ser536Arg) c.1746C>G (p.Ser582Arg) c.*1389C>G (n.*1389C>G) c.*1671C>G (n.*1671C>G) c.1620C>G (p.Ser540Arg) c.1611C>G (p.Ser537Arg) n.146C>G c.*1468C>G (n.*1468C>G) c.1674C>G (p.Ser558Arg) c.1668C>G (p.Ser556Arg) n.2056C>G n.2103C>G c.1815C>G (p.Ser605Arg) n.2039C>G n.2285C>G | |
| 7 | g.114662088C>T | CA457220209 | FOXP2 | c.1722C>T (p.Ser574=) c.1662C>T (p.Ser554=) c.1671C>T (p.Ser557=) c.1797C>T (p.Ser599=) c.1116C>T (p.Ser372=) c.568C>T c.*1465C>T (n.*1465C>T) c.1395C>T (p.Ser465=) c.1608C>T (p.Ser536=) c.1746C>T (p.Ser582=) c.*1389C>T (n.*1389C>T) c.*1671C>T (n.*1671C>T) c.1620C>T (p.Ser540=) c.1611C>T (p.Ser537=) n.146C>T c.*1468C>T (n.*1468C>T) c.1674C>T (p.Ser558=) c.1668C>T (p.Ser556=) n.2056C>T n.2103C>T c.1815C>T (p.Ser605=) n.2039C>T n.2285C>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.114662089C>A | CA368965801 | FOXP2 | c.1723C>A (p.Leu575Met) c.1663C>A (p.Leu555Met) c.1672C>A (p.Leu558Met) c.1798C>A (p.Leu600Met) c.1117C>A (p.Leu373Met) c.569C>A c.*1466C>A (n.*1466C>A) c.1396C>A (p.Leu466Met) c.1609C>A (p.Leu537Met) c.1747C>A (p.Leu583Met) c.*1390C>A (n.*1390C>A) c.*1672C>A (n.*1672C>A) c.1621C>A (p.Leu541Met) c.1612C>A (p.Leu538Met) n.147C>A c.*1469C>A (n.*1469C>A) c.1675C>A (p.Leu559Met) c.1669C>A (p.Leu557Met) n.2057C>A n.2104C>A c.1816C>A (p.Leu606Met) n.2040C>A n.2286C>A | |
| 7 | g.114662089C>G | CA368965800 | FOXP2 | c.1723C>G (p.Leu575Val) c.1663C>G (p.Leu555Val) c.1672C>G (p.Leu558Val) c.1798C>G (p.Leu600Val) c.1117C>G (p.Leu373Val) c.569C>G c.*1466C>G (n.*1466C>G) c.1396C>G (p.Leu466Val) c.1609C>G (p.Leu537Val) c.1747C>G (p.Leu583Val) c.*1390C>G (n.*1390C>G) c.*1672C>G (n.*1672C>G) c.1621C>G (p.Leu541Val) c.1612C>G (p.Leu538Val) n.147C>G c.*1469C>G (n.*1469C>G) c.1675C>G (p.Leu559Val) c.1669C>G (p.Leu557Val) n.2057C>G n.2104C>G c.1816C>G (p.Leu606Val) n.2040C>G n.2286C>G | |
| 7 | g.114662089C>T | CA457220210 | FOXP2 | c.1723C>T (p.Leu575=) c.1663C>T (p.Leu555=) c.1672C>T (p.Leu558=) c.1798C>T (p.Leu600=) c.1117C>T (p.Leu373=) c.569C>T c.*1466C>T (n.*1466C>T) c.1396C>T (p.Leu466=) c.1609C>T (p.Leu537=) c.1747C>T (p.Leu583=) c.*1390C>T (n.*1390C>T) c.*1672C>T (n.*1672C>T) c.1621C>T (p.Leu541=) c.1612C>T (p.Leu538=) n.147C>T c.*1469C>T (n.*1469C>T) c.1675C>T (p.Leu559=) c.1669C>T (p.Leu557=) n.2057C>T n.2104C>T c.1816C>T (p.Leu606=) n.2040C>T n.2286C>T | |
| 7 | g.114662090T>A | CA368965802 | FOXP2 | c.1724T>A (p.Leu575Gln) c.1664T>A (p.Leu555Gln) c.1673T>A (p.Leu558Gln) c.1799T>A (p.Leu600Gln) c.1118T>A (p.Leu373Gln) c.570T>A c.*1467T>A (n.*1467T>A) c.1397T>A (p.Leu466Gln) c.1610T>A (p.Leu537Gln) c.1748T>A (p.Leu583Gln) c.*1391T>A (n.*1391T>A) c.*1673T>A (n.*1673T>A) c.1622T>A (p.Leu541Gln) c.1613T>A (p.Leu538Gln) n.148T>A c.*1470T>A (n.*1470T>A) c.1676T>A (p.Leu559Gln) c.1670T>A (p.Leu557Gln) n.2058T>A n.2105T>A c.1817T>A (p.Leu606Gln) n.2041T>A n.2287T>A | |
| 7 | g.114662090T>C | CA164884181 | FOXP2 | c.1724T>C (p.Leu575Pro) c.1664T>C (p.Leu555Pro) c.1673T>C (p.Leu558Pro) c.1799T>C (p.Leu600Pro) c.1118T>C (p.Leu373Pro) c.570T>C c.*1467T>C (n.*1467T>C) c.1397T>C (p.Leu466Pro) c.1610T>C (p.Leu537Pro) c.1748T>C (p.Leu583Pro) c.*1391T>C (n.*1391T>C) c.*1673T>C (n.*1673T>C) c.1622T>C (p.Leu541Pro) c.1613T>C (p.Leu538Pro) n.148T>C c.*1470T>C (n.*1470T>C) c.1676T>C (p.Leu559Pro) c.1670T>C (p.Leu557Pro) n.2058T>C n.2105T>C c.1817T>C (p.Leu606Pro) n.2041T>C n.2287T>C | dbSNP |