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.114662139_114662140delinsTG | CA1736047870 | FOXP2 | c.1773_1774delinsTG (p.Thr591=) c.1713_1714delinsTG (p.Thr571=) c.1722_1723delinsTG (p.Thr574=) c.1848_1849delinsTG (p.Thr616=) c.1167_1168delinsTG (p.Thr389=) c.619_620delinsTG c.*1516_*1517delinsTG (n.*1516_*1517delinsTG) c.1446_1447delinsTG (p.Thr482=) c.1659_1660delinsTG (p.Thr553=) c.1797_1798delinsTG (p.Thr599=) c.*1440_*1441delinsTG (n.*1440_*1441delinsTG) c.*1722_*1723delinsTG (n.*1722_*1723delinsTG) c.1671_1672delinsTG (p.Thr557=) c.1662_1663delinsTG (p.Thr554=) n.197_198delinsTG c.*1519_*1520delinsTG (n.*1519_*1520delinsTG) c.1725_1726delinsTG (p.Thr575=) c.1719_1720delinsTG (p.Thr573=) n.2107_2108delinsTG n.2154_2155delinsTG c.1866_1867delinsTG (p.Thr622=) n.2090_2091delinsTG n.2336_2337delinsTG | |
| 7 | g.114662140del | CA16618348 | FOXP2 | c.1774del (p.Val592TrpfsTer4) c.1714del (p.Val572TrpfsTer4) c.1723del (p.Val575TrpfsTer4) c.1849del (p.Val617TrpfsTer4) c.1168del (p.Val390TrpfsTer4) c.620del c.*1517del (n.*1517del) c.1447del (p.Val483TrpfsTer4) c.1660del (p.Val554TrpfsTer4) c.1798del (p.Val600TrpfsTer4) c.*1441del (n.*1441del) c.*1723del (n.*1723del) c.1672del (p.Val558TrpfsTer4) c.1663del (p.Val555TrpfsTer4) n.198del c.*1520del (n.*1520del) c.1726del (p.Val576TrpfsTer4) c.1720del (p.Val574TrpfsTer4) n.2108del n.2155del c.1867del (p.Val623TrpfsTer4) n.2091del n.2337del | ClinVar dbSNP |
| 7 | g.114662140G>A | CA368965915 | FOXP2 | c.1774G>A (p.Val592Met) c.1714G>A (p.Val572Met) c.1723G>A (p.Val575Met) c.1849G>A (p.Val617Met) c.1168G>A (p.Val390Met) c.620G>A c.*1517G>A (n.*1517G>A) c.1447G>A (p.Val483Met) c.1660G>A (p.Val554Met) c.1798G>A (p.Val600Met) c.*1441G>A (n.*1441G>A) c.*1723G>A (n.*1723G>A) c.1672G>A (p.Val558Met) c.1663G>A (p.Val555Met) n.198G>A c.*1520G>A (n.*1520G>A) c.1726G>A (p.Val576Met) c.1720G>A (p.Val574Met) n.2108G>A n.2155G>A c.1867G>A (p.Val623Met) n.2091G>A n.2337G>A | |
| 7 | g.114662140G>C | CA368965916 | FOXP2 | c.1774G>C (p.Val592Leu) c.1714G>C (p.Val572Leu) c.1723G>C (p.Val575Leu) c.1849G>C (p.Val617Leu) c.1168G>C (p.Val390Leu) c.620G>C c.*1517G>C (n.*1517G>C) c.1447G>C (p.Val483Leu) c.1660G>C (p.Val554Leu) c.1798G>C (p.Val600Leu) c.*1441G>C (n.*1441G>C) c.*1723G>C (n.*1723G>C) c.1672G>C (p.Val558Leu) c.1663G>C (p.Val555Leu) n.198G>C c.*1520G>C (n.*1520G>C) c.1726G>C (p.Val576Leu) c.1720G>C (p.Val574Leu) n.2108G>C n.2155G>C c.1867G>C (p.Val623Leu) n.2091G>C n.2337G>C | |
| 7 | g.114662140G>T | CA368965917 | FOXP2 | c.1774G>T (p.Val592Leu) c.1714G>T (p.Val572Leu) c.1723G>T (p.Val575Leu) c.1849G>T (p.Val617Leu) c.1168G>T (p.Val390Leu) c.620G>T c.*1517G>T (n.*1517G>T) c.1447G>T (p.Val483Leu) c.1660G>T (p.Val554Leu) c.1798G>T (p.Val600Leu) c.*1441G>T (n.*1441G>T) c.*1723G>T (n.*1723G>T) c.1672G>T (p.Val558Leu) c.1663G>T (p.Val555Leu) n.198G>T c.*1520G>T (n.*1520G>T) c.1726G>T (p.Val576Leu) c.1720G>T (p.Val574Leu) n.2108G>T n.2155G>T c.1867G>T (p.Val623Leu) n.2091G>T n.2337G>T | |
| 7 | g.114662141T>A | CA368965918 | FOXP2 | c.1775T>A (p.Val592Glu) c.1715T>A (p.Val572Glu) c.1724T>A (p.Val575Glu) c.1850T>A (p.Val617Glu) c.1169T>A (p.Val390Glu) c.621T>A c.*1518T>A (n.*1518T>A) c.1448T>A (p.Val483Glu) c.1661T>A (p.Val554Glu) c.1799T>A (p.Val600Glu) c.*1442T>A (n.*1442T>A) c.*1724T>A (n.*1724T>A) c.1673T>A (p.Val558Glu) c.1664T>A (p.Val555Glu) n.199T>A c.*1521T>A (n.*1521T>A) c.1727T>A (p.Val576Glu) c.1721T>A (p.Val574Glu) n.2109T>A n.2156T>A c.1868T>A (p.Val623Glu) n.2092T>A n.2338T>A | |
| 7 | g.114662141T>C | CA368965919 | FOXP2 | c.1775T>C (p.Val592Ala) c.1715T>C (p.Val572Ala) c.1724T>C (p.Val575Ala) c.1850T>C (p.Val617Ala) c.1169T>C (p.Val390Ala) c.621T>C c.*1518T>C (n.*1518T>C) c.1448T>C (p.Val483Ala) c.1661T>C (p.Val554Ala) c.1799T>C (p.Val600Ala) c.*1442T>C (n.*1442T>C) c.*1724T>C (n.*1724T>C) c.1673T>C (p.Val558Ala) c.1664T>C (p.Val555Ala) n.199T>C c.*1521T>C (n.*1521T>C) c.1727T>C (p.Val576Ala) c.1721T>C (p.Val574Ala) n.2109T>C n.2156T>C c.1868T>C (p.Val623Ala) n.2092T>C n.2338T>C | |
| 7 | g.114662141T>G | CA368965920 | FOXP2 | c.1775T>G (p.Val592Gly) c.1715T>G (p.Val572Gly) c.1724T>G (p.Val575Gly) c.1850T>G (p.Val617Gly) c.1169T>G (p.Val390Gly) c.621T>G c.*1518T>G (n.*1518T>G) c.1448T>G (p.Val483Gly) c.1661T>G (p.Val554Gly) c.1799T>G (p.Val600Gly) c.*1442T>G (n.*1442T>G) c.*1724T>G (n.*1724T>G) c.1673T>G (p.Val558Gly) c.1664T>G (p.Val555Gly) n.199T>G c.*1521T>G (n.*1521T>G) c.1727T>G (p.Val576Gly) c.1721T>G (p.Val574Gly) n.2109T>G n.2156T>G c.1868T>G (p.Val623Gly) n.2092T>G n.2338T>G | |
| 7 | g.114662142G>A | CA457220266 | FOXP2 | c.1776G>A (p.Val592=) c.1716G>A (p.Val572=) c.1725G>A (p.Val575=) c.1851G>A (p.Val617=) c.1170G>A (p.Val390=) c.622G>A c.*1519G>A (n.*1519G>A) c.1449G>A (p.Val483=) c.1662G>A (p.Val554=) c.1800G>A (p.Val600=) c.*1443G>A (n.*1443G>A) c.*1725G>A (n.*1725G>A) c.1674G>A (p.Val558=) c.1665G>A (p.Val555=) n.200G>A c.*1522G>A (n.*1522G>A) c.1728G>A (p.Val576=) c.1722G>A (p.Val574=) n.2110G>A n.2157G>A c.1869G>A (p.Val623=) n.2093G>A n.2339G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.114662142G>C | CA457220267 | FOXP2 | c.1776G>C (p.Val592=) c.1716G>C (p.Val572=) c.1725G>C (p.Val575=) c.1851G>C (p.Val617=) c.1170G>C (p.Val390=) c.622G>C c.*1519G>C (n.*1519G>C) c.1449G>C (p.Val483=) c.1662G>C (p.Val554=) c.1800G>C (p.Val600=) c.*1443G>C (n.*1443G>C) c.*1725G>C (n.*1725G>C) c.1674G>C (p.Val558=) c.1665G>C (p.Val555=) n.200G>C c.*1522G>C (n.*1522G>C) c.1728G>C (p.Val576=) c.1722G>C (p.Val574=) n.2110G>C n.2157G>C c.1869G>C (p.Val623=) n.2093G>C n.2339G>C | dbSNP |
| 7 | g.114662142G= | CA1736047872 | FOXP2 | c.1776G= (p.Val592=) c.1716G= (p.Val572=) c.1725G= (p.Val575=) c.1851G= (p.Val617=) c.1170G= (p.Val390=) c.622G= c.*1519G= (n.*1519G=) c.1449G= (p.Val483=) c.1662G= (p.Val554=) c.1800G= (p.Val600=) c.*1443G= (n.*1443G=) c.*1725G= (n.*1725G=) c.1674G= (p.Val558=) c.1665G= (p.Val555=) n.200G= c.*1522G= (n.*1522G=) c.1728G= (p.Val576=) c.1722G= (p.Val574=) n.2110G= n.2157G= c.1869G= (p.Val623=) n.2093G= n.2339G= | |
| 7 | g.114662142G>T | CA457220268 | FOXP2 | c.1776G>T (p.Val592=) c.1716G>T (p.Val572=) c.1725G>T (p.Val575=) c.1851G>T (p.Val617=) c.1170G>T (p.Val390=) c.622G>T c.*1519G>T (n.*1519G>T) c.1449G>T (p.Val483=) c.1662G>T (p.Val554=) c.1800G>T (p.Val600=) c.*1443G>T (n.*1443G>T) c.*1725G>T (n.*1725G>T) c.1674G>T (p.Val558=) c.1665G>T (p.Val555=) n.200G>T c.*1522G>T (n.*1522G>T) c.1728G>T (p.Val576=) c.1722G>T (p.Val574=) n.2110G>T n.2157G>T c.1869G>T (p.Val623=) n.2093G>T n.2339G>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.114662143G>A | CA368965922 | FOXP2 | c.1777G>A (p.Asp593Asn) c.1717G>A (p.Asp573Asn) c.1726G>A (p.Asp576Asn) c.1852G>A (p.Asp618Asn) c.1171G>A (p.Asp391Asn) c.623G>A c.*1520G>A (n.*1520G>A) c.1450G>A (p.Asp484Asn) c.1663G>A (p.Asp555Asn) c.1801G>A (p.Asp601Asn) c.*1444G>A (n.*1444G>A) c.*1726G>A (n.*1726G>A) c.1675G>A (p.Asp559Asn) c.1666G>A (p.Asp556Asn) n.201G>A c.*1523G>A (n.*1523G>A) c.1729G>A (p.Asp577Asn) c.1723G>A (p.Asp575Asn) n.2111G>A n.2158G>A c.1870G>A (p.Asp624Asn) n.2094G>A n.2340G>A | |
| 7 | g.114662143G>C | CA368965923 | FOXP2 | c.1777G>C (p.Asp593His) c.1717G>C (p.Asp573His) c.1726G>C (p.Asp576His) c.1852G>C (p.Asp618His) c.1171G>C (p.Asp391His) c.623G>C c.*1520G>C (n.*1520G>C) c.1450G>C (p.Asp484His) c.1663G>C (p.Asp555His) c.1801G>C (p.Asp601His) c.*1444G>C (n.*1444G>C) c.*1726G>C (n.*1726G>C) c.1675G>C (p.Asp559His) c.1666G>C (p.Asp556His) n.201G>C c.*1523G>C (n.*1523G>C) c.1729G>C (p.Asp577His) c.1723G>C (p.Asp575His) n.2111G>C n.2158G>C c.1870G>C (p.Asp624His) n.2094G>C n.2340G>C | |
| 7 | g.114662143G>T | CA368965921 | FOXP2 | c.1777G>T (p.Asp593Tyr) c.1717G>T (p.Asp573Tyr) c.1726G>T (p.Asp576Tyr) c.1852G>T (p.Asp618Tyr) c.1171G>T (p.Asp391Tyr) c.623G>T c.*1520G>T (n.*1520G>T) c.1450G>T (p.Asp484Tyr) c.1663G>T (p.Asp555Tyr) c.1801G>T (p.Asp601Tyr) c.*1444G>T (n.*1444G>T) c.*1726G>T (n.*1726G>T) c.1675G>T (p.Asp559Tyr) c.1666G>T (p.Asp556Tyr) n.201G>T c.*1523G>T (n.*1523G>T) c.1729G>T (p.Asp577Tyr) c.1723G>T (p.Asp575Tyr) n.2111G>T n.2158G>T c.1870G>T (p.Asp624Tyr) n.2094G>T n.2340G>T | |
| 7 | g.114662144A>C | CA368965924 | FOXP2 | c.1778A>C (p.Asp593Ala) c.1718A>C (p.Asp573Ala) c.1727A>C (p.Asp576Ala) c.1853A>C (p.Asp618Ala) c.1172A>C (p.Asp391Ala) c.624A>C c.*1521A>C (n.*1521A>C) c.1451A>C (p.Asp484Ala) c.1664A>C (p.Asp555Ala) c.1802A>C (p.Asp601Ala) c.*1445A>C (n.*1445A>C) c.*1727A>C (n.*1727A>C) c.1676A>C (p.Asp559Ala) c.1667A>C (p.Asp556Ala) n.202A>C c.*1524A>C (n.*1524A>C) c.1730A>C (p.Asp577Ala) c.1724A>C (p.Asp575Ala) n.2112A>C n.2159A>C c.1871A>C (p.Asp624Ala) n.2095A>C n.2341A>C | |
| 7 | g.114662144A>G | CA368965925 | FOXP2 | c.1778A>G (p.Asp593Gly) c.1718A>G (p.Asp573Gly) c.1727A>G (p.Asp576Gly) c.1853A>G (p.Asp618Gly) c.1172A>G (p.Asp391Gly) c.624A>G c.*1521A>G (n.*1521A>G) c.1451A>G (p.Asp484Gly) c.1664A>G (p.Asp555Gly) c.1802A>G (p.Asp601Gly) c.*1445A>G (n.*1445A>G) c.*1727A>G (n.*1727A>G) c.1676A>G (p.Asp559Gly) c.1667A>G (p.Asp556Gly) n.202A>G c.*1524A>G (n.*1524A>G) c.1730A>G (p.Asp577Gly) c.1724A>G (p.Asp575Gly) n.2112A>G n.2159A>G c.1871A>G (p.Asp624Gly) n.2095A>G n.2341A>G | |
| 7 | g.114662144A>T | CA368965926 | FOXP2 | c.1778A>T (p.Asp593Val) c.1718A>T (p.Asp573Val) c.1727A>T (p.Asp576Val) c.1853A>T (p.Asp618Val) c.1172A>T (p.Asp391Val) c.624A>T c.*1521A>T (n.*1521A>T) c.1451A>T (p.Asp484Val) c.1664A>T (p.Asp555Val) c.1802A>T (p.Asp601Val) c.*1445A>T (n.*1445A>T) c.*1727A>T (n.*1727A>T) c.1676A>T (p.Asp559Val) c.1667A>T (p.Asp556Val) n.202A>T c.*1524A>T (n.*1524A>T) c.1730A>T (p.Asp577Val) c.1724A>T (p.Asp575Val) n.2112A>T n.2159A>T c.1871A>T (p.Asp624Val) n.2095A>T n.2341A>T | |
| 7 | g.114662145T>A | CA368965927 | FOXP2 | c.1779T>A (p.Asp593Glu) c.1719T>A (p.Asp573Glu) c.1728T>A (p.Asp576Glu) c.1854T>A (p.Asp618Glu) c.1173T>A (p.Asp391Glu) c.625T>A c.*1522T>A (n.*1522T>A) c.1452T>A (p.Asp484Glu) c.1665T>A (p.Asp555Glu) c.1803T>A (p.Asp601Glu) c.*1446T>A (n.*1446T>A) c.*1728T>A (n.*1728T>A) c.1677T>A (p.Asp559Glu) c.1668T>A (p.Asp556Glu) n.203T>A c.*1525T>A (n.*1525T>A) c.1731T>A (p.Asp577Glu) c.1725T>A (p.Asp575Glu) n.2113T>A n.2160T>A c.1872T>A (p.Asp624Glu) n.2096T>A n.2342T>A | |
| 7 | g.114662145T>C | CA457220269 | FOXP2 | c.1779T>C (p.Asp593=) c.1719T>C (p.Asp573=) c.1728T>C (p.Asp576=) c.1854T>C (p.Asp618=) c.1173T>C (p.Asp391=) c.625T>C c.*1522T>C (n.*1522T>C) c.1452T>C (p.Asp484=) c.1665T>C (p.Asp555=) c.1803T>C (p.Asp601=) c.*1446T>C (n.*1446T>C) c.*1728T>C (n.*1728T>C) c.1677T>C (p.Asp559=) c.1668T>C (p.Asp556=) n.203T>C c.*1525T>C (n.*1525T>C) c.1731T>C (p.Asp577=) c.1725T>C (p.Asp575=) n.2113T>C n.2160T>C c.1872T>C (p.Asp624=) n.2096T>C n.2342T>C | |
| 7 | g.114662145T>G | CA368965928 | FOXP2 | c.1779T>G (p.Asp593Glu) c.1719T>G (p.Asp573Glu) c.1728T>G (p.Asp576Glu) c.1854T>G (p.Asp618Glu) c.1173T>G (p.Asp391Glu) c.625T>G c.*1522T>G (n.*1522T>G) c.1452T>G (p.Asp484Glu) c.1665T>G (p.Asp555Glu) c.1803T>G (p.Asp601Glu) c.*1446T>G (n.*1446T>G) c.*1728T>G (n.*1728T>G) c.1677T>G (p.Asp559Glu) c.1668T>G (p.Asp556Glu) n.203T>G c.*1525T>G (n.*1525T>G) c.1731T>G (p.Asp577Glu) c.1725T>G (p.Asp575Glu) n.2113T>G n.2160T>G c.1872T>G (p.Asp624Glu) n.2096T>G n.2342T>G | |
| 7 | g.114662146G>A | CA368965931 | FOXP2 | c.1780G>A (p.Glu594Lys) c.1720G>A (p.Glu574Lys) c.1729G>A (p.Glu577Lys) c.1855G>A (p.Glu619Lys) c.1174G>A (p.Glu392Lys) c.626G>A c.*1523G>A (n.*1523G>A) c.1453G>A (p.Glu485Lys) c.1666G>A (p.Glu556Lys) c.1804G>A (p.Glu602Lys) c.*1447G>A (n.*1447G>A) c.*1729G>A (n.*1729G>A) c.1678G>A (p.Glu560Lys) c.1669G>A (p.Glu557Lys) n.204G>A c.*1526G>A (n.*1526G>A) c.1732G>A (p.Glu578Lys) c.1726G>A (p.Glu576Lys) n.2114G>A n.2161G>A c.1873G>A (p.Glu625Lys) n.2097G>A n.2343G>A | COSMIC COSMIC |
| 7 | g.114662146G>C | CA368965929 | FOXP2 | c.1780G>C (p.Glu594Gln) c.1720G>C (p.Glu574Gln) c.1729G>C (p.Glu577Gln) c.1855G>C (p.Glu619Gln) c.1174G>C (p.Glu392Gln) c.626G>C c.*1523G>C (n.*1523G>C) c.1453G>C (p.Glu485Gln) c.1666G>C (p.Glu556Gln) c.1804G>C (p.Glu602Gln) c.*1447G>C (n.*1447G>C) c.*1729G>C (n.*1729G>C) c.1678G>C (p.Glu560Gln) c.1669G>C (p.Glu557Gln) n.204G>C c.*1526G>C (n.*1526G>C) c.1732G>C (p.Glu578Gln) c.1726G>C (p.Glu576Gln) n.2114G>C n.2161G>C c.1873G>C (p.Glu625Gln) n.2097G>C n.2343G>C | |
| 7 | g.114662146G>T | CA368965930 | FOXP2 | c.1780G>T (p.Glu594Ter) c.1720G>T (p.Glu574Ter) c.1729G>T (p.Glu577Ter) c.1855G>T (p.Glu619Ter) c.1174G>T (p.Glu392Ter) c.626G>T c.*1523G>T (n.*1523G>T) c.1453G>T (p.Glu485Ter) c.1666G>T (p.Glu556Ter) c.1804G>T (p.Glu602Ter) c.*1447G>T (n.*1447G>T) c.*1729G>T (n.*1729G>T) c.1678G>T (p.Glu560Ter) c.1669G>T (p.Glu557Ter) n.204G>T c.*1526G>T (n.*1526G>T) c.1732G>T (p.Glu578Ter) c.1726G>T (p.Glu576Ter) n.2114G>T n.2161G>T c.1873G>T (p.Glu625Ter) n.2097G>T n.2343G>T | COSMIC |
| 7 | g.114662147A>C | CA368965932 | FOXP2 | c.1781A>C (p.Glu594Ala) c.1721A>C (p.Glu574Ala) c.1730A>C (p.Glu577Ala) c.1856A>C (p.Glu619Ala) c.1175A>C (p.Glu392Ala) c.627A>C c.*1524A>C (n.*1524A>C) c.1454A>C (p.Glu485Ala) c.1667A>C (p.Glu556Ala) c.1805A>C (p.Glu602Ala) c.*1448A>C (n.*1448A>C) c.*1730A>C (n.*1730A>C) c.1679A>C (p.Glu560Ala) c.1670A>C (p.Glu557Ala) n.205A>C c.*1527A>C (n.*1527A>C) c.1733A>C (p.Glu578Ala) c.1727A>C (p.Glu576Ala) n.2115A>C n.2162A>C c.1874A>C (p.Glu625Ala) n.2098A>C n.2344A>C | |
| 7 | g.114662147A>G | CA368965933 | FOXP2 | c.1781A>G (p.Glu594Gly) c.1721A>G (p.Glu574Gly) c.1730A>G (p.Glu577Gly) c.1856A>G (p.Glu619Gly) c.1175A>G (p.Glu392Gly) c.627A>G c.*1524A>G (n.*1524A>G) c.1454A>G (p.Glu485Gly) c.1667A>G (p.Glu556Gly) c.1805A>G (p.Glu602Gly) c.*1448A>G (n.*1448A>G) c.*1730A>G (n.*1730A>G) c.1679A>G (p.Glu560Gly) c.1670A>G (p.Glu557Gly) n.205A>G c.*1527A>G (n.*1527A>G) c.1733A>G (p.Glu578Gly) c.1727A>G (p.Glu576Gly) n.2115A>G n.2162A>G c.1874A>G (p.Glu625Gly) n.2098A>G n.2344A>G | |
| 7 | g.114662147A>T | CA368965934 | FOXP2 | c.1781A>T (p.Glu594Val) c.1721A>T (p.Glu574Val) c.1730A>T (p.Glu577Val) c.1856A>T (p.Glu619Val) c.1175A>T (p.Glu392Val) c.627A>T c.*1524A>T (n.*1524A>T) c.1454A>T (p.Glu485Val) c.1667A>T (p.Glu556Val) c.1805A>T (p.Glu602Val) c.*1448A>T (n.*1448A>T) c.*1730A>T (n.*1730A>T) c.1679A>T (p.Glu560Val) c.1670A>T (p.Glu557Val) n.205A>T c.*1527A>T (n.*1527A>T) c.1733A>T (p.Glu578Val) c.1727A>T (p.Glu576Val) n.2115A>T n.2162A>T c.1874A>T (p.Glu625Val) n.2098A>T n.2344A>T | |
| 7 | g.114662148A= | CA1736047873 | FOXP2 | c.1782A= (p.Glu594=) c.1722A= (p.Glu574=) c.1731A= (p.Glu577=) c.1857A= (p.Glu619=) c.1176A= (p.Glu392=) c.628A= c.*1525A= (n.*1525A=) c.1455A= (p.Glu485=) c.1668A= (p.Glu556=) c.1806A= (p.Glu602=) c.*1449A= (n.*1449A=) c.*1731A= (n.*1731A=) c.1680A= (p.Glu560=) c.1671A= (p.Glu557=) n.206A= c.*1528A= (n.*1528A=) c.1734A= (p.Glu578=) c.1728A= (p.Glu576=) n.2116A= n.2163A= c.1875A= (p.Glu625=) n.2099A= n.2345A= | |
| 7 | g.114662148A>C | CA368965935 | FOXP2 | c.1782A>C (p.Glu594Asp) c.1722A>C (p.Glu574Asp) c.1731A>C (p.Glu577Asp) c.1857A>C (p.Glu619Asp) c.1176A>C (p.Glu392Asp) c.628A>C c.*1525A>C (n.*1525A>C) c.1455A>C (p.Glu485Asp) c.1668A>C (p.Glu556Asp) c.1806A>C (p.Glu602Asp) c.*1449A>C (n.*1449A>C) c.*1731A>C (n.*1731A>C) c.1680A>C (p.Glu560Asp) c.1671A>C (p.Glu557Asp) n.206A>C c.*1528A>C (n.*1528A>C) c.1734A>C (p.Glu578Asp) c.1728A>C (p.Glu576Asp) n.2116A>C n.2163A>C c.1875A>C (p.Glu625Asp) n.2099A>C n.2345A>C | |
| 7 | g.114662148A>G | CA457220270 | FOXP2 | c.1782A>G (p.Glu594=) c.1722A>G (p.Glu574=) c.1731A>G (p.Glu577=) c.1857A>G (p.Glu619=) c.1176A>G (p.Glu392=) c.628A>G c.*1525A>G (n.*1525A>G) c.1455A>G (p.Glu485=) c.1668A>G (p.Glu556=) c.1806A>G (p.Glu602=) c.*1449A>G (n.*1449A>G) c.*1731A>G (n.*1731A>G) c.1680A>G (p.Glu560=) c.1671A>G (p.Glu557=) n.206A>G c.*1528A>G (n.*1528A>G) c.1734A>G (p.Glu578=) c.1728A>G (p.Glu576=) n.2116A>G n.2163A>G c.1875A>G (p.Glu625=) n.2099A>G n.2345A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.114662148A>T | CA368965936 | FOXP2 | c.1782A>T (p.Glu594Asp) c.1722A>T (p.Glu574Asp) c.1731A>T (p.Glu577Asp) c.1857A>T (p.Glu619Asp) c.1176A>T (p.Glu392Asp) c.628A>T c.*1525A>T (n.*1525A>T) c.1455A>T (p.Glu485Asp) c.1668A>T (p.Glu556Asp) c.1806A>T (p.Glu602Asp) c.*1449A>T (n.*1449A>T) c.*1731A>T (n.*1731A>T) c.1680A>T (p.Glu560Asp) c.1671A>T (p.Glu557Asp) n.206A>T c.*1528A>T (n.*1528A>T) c.1734A>T (p.Glu578Asp) c.1728A>T (p.Glu576Asp) n.2116A>T n.2163A>T c.1875A>T (p.Glu625Asp) n.2099A>T n.2345A>T | |
| 7 | g.114662149G>A | CA368965937 | FOXP2 | c.1783G>A (p.Val595Ile) c.1723G>A (p.Val575Ile) c.1732G>A (p.Val578Ile) c.1858G>A (p.Val620Ile) c.1177G>A (p.Val393Ile) c.629G>A c.*1526G>A (n.*1526G>A) c.1456G>A (p.Val486Ile) c.1669G>A (p.Val557Ile) c.1807G>A (p.Val603Ile) c.*1450G>A (n.*1450G>A) c.*1732G>A (n.*1732G>A) c.1681G>A (p.Val561Ile) c.1672G>A (p.Val558Ile) n.207G>A c.*1529G>A (n.*1529G>A) c.1735G>A (p.Val579Ile) c.1729G>A (p.Val577Ile) n.2117G>A n.2164G>A c.1876G>A (p.Val626Ile) n.2100G>A n.2346G>A | |
| 7 | g.114662149G>C | CA368965939 | FOXP2 | c.1783G>C (p.Val595Leu) c.1723G>C (p.Val575Leu) c.1732G>C (p.Val578Leu) c.1858G>C (p.Val620Leu) c.1177G>C (p.Val393Leu) c.629G>C c.*1526G>C (n.*1526G>C) c.1456G>C (p.Val486Leu) c.1669G>C (p.Val557Leu) c.1807G>C (p.Val603Leu) c.*1450G>C (n.*1450G>C) c.*1732G>C (n.*1732G>C) c.1681G>C (p.Val561Leu) c.1672G>C (p.Val558Leu) n.207G>C c.*1529G>C (n.*1529G>C) c.1735G>C (p.Val579Leu) c.1729G>C (p.Val577Leu) n.2117G>C n.2164G>C c.1876G>C (p.Val626Leu) n.2100G>C n.2346G>C | |
| 7 | g.114662149G>T | CA368965938 | FOXP2 | c.1783G>T (p.Val595Leu) c.1723G>T (p.Val575Leu) c.1732G>T (p.Val578Leu) c.1858G>T (p.Val620Leu) c.1177G>T (p.Val393Leu) c.629G>T c.*1526G>T (n.*1526G>T) c.1456G>T (p.Val486Leu) c.1669G>T (p.Val557Leu) c.1807G>T (p.Val603Leu) c.*1450G>T (n.*1450G>T) c.*1732G>T (n.*1732G>T) c.1681G>T (p.Val561Leu) c.1672G>T (p.Val558Leu) n.207G>T c.*1529G>T (n.*1529G>T) c.1735G>T (p.Val579Leu) c.1729G>T (p.Val577Leu) n.2117G>T n.2164G>T c.1876G>T (p.Val626Leu) n.2100G>T n.2346G>T | |
| 7 | g.114662150T>A | CA368965940 | FOXP2 | c.1784T>A (p.Val595Glu) c.1724T>A (p.Val575Glu) c.1733T>A (p.Val578Glu) c.1859T>A (p.Val620Glu) c.1178T>A (p.Val393Glu) c.630T>A c.*1527T>A (n.*1527T>A) c.1457T>A (p.Val486Glu) c.1670T>A (p.Val557Glu) c.1808T>A (p.Val603Glu) c.*1451T>A (n.*1451T>A) c.*1733T>A (n.*1733T>A) c.1682T>A (p.Val561Glu) c.1673T>A (p.Val558Glu) n.208T>A c.*1530T>A (n.*1530T>A) c.1736T>A (p.Val579Glu) c.1730T>A (p.Val577Glu) n.2118T>A n.2165T>A c.1877T>A (p.Val626Glu) n.2101T>A n.2347T>A | |
| 7 | g.114662150T>C | CA368965942 | FOXP2 | c.1784T>C (p.Val595Ala) c.1724T>C (p.Val575Ala) c.1733T>C (p.Val578Ala) c.1859T>C (p.Val620Ala) c.1178T>C (p.Val393Ala) c.630T>C c.*1527T>C (n.*1527T>C) c.1457T>C (p.Val486Ala) c.1670T>C (p.Val557Ala) c.1808T>C (p.Val603Ala) c.*1451T>C (n.*1451T>C) c.*1733T>C (n.*1733T>C) c.1682T>C (p.Val561Ala) c.1673T>C (p.Val558Ala) n.208T>C c.*1530T>C (n.*1530T>C) c.1736T>C (p.Val579Ala) c.1730T>C (p.Val577Ala) n.2118T>C n.2165T>C c.1877T>C (p.Val626Ala) n.2101T>C n.2347T>C | |
| 7 | g.114662150T>G | CA368965941 | FOXP2 | c.1784T>G (p.Val595Gly) c.1724T>G (p.Val575Gly) c.1733T>G (p.Val578Gly) c.1859T>G (p.Val620Gly) c.1178T>G (p.Val393Gly) c.630T>G c.*1527T>G (n.*1527T>G) c.1457T>G (p.Val486Gly) c.1670T>G (p.Val557Gly) c.1808T>G (p.Val603Gly) c.*1451T>G (n.*1451T>G) c.*1733T>G (n.*1733T>G) c.1682T>G (p.Val561Gly) c.1673T>G (p.Val558Gly) n.208T>G c.*1530T>G (n.*1530T>G) c.1736T>G (p.Val579Gly) c.1730T>G (p.Val577Gly) n.2118T>G n.2165T>G c.1877T>G (p.Val626Gly) n.2101T>G n.2347T>G | |
| 7 | g.114662151A>C | CA457220271 | FOXP2 | c.1785A>C (p.Val595=) c.1725A>C (p.Val575=) c.1734A>C (p.Val578=) c.1860A>C (p.Val620=) c.1179A>C (p.Val393=) c.631A>C c.*1528A>C (n.*1528A>C) c.1458A>C (p.Val486=) c.1671A>C (p.Val557=) c.1809A>C (p.Val603=) c.*1452A>C (n.*1452A>C) c.*1734A>C (n.*1734A>C) c.1683A>C (p.Val561=) c.1674A>C (p.Val558=) n.209A>C c.*1531A>C (n.*1531A>C) c.1737A>C (p.Val579=) c.1731A>C (p.Val577=) n.2119A>C n.2166A>C c.1878A>C (p.Val626=) n.2102A>C n.2348A>C | |
| 7 | g.114662151A>G | CA457220273 | FOXP2 | c.1785A>G (p.Val595=) c.1725A>G (p.Val575=) c.1734A>G (p.Val578=) c.1860A>G (p.Val620=) c.1179A>G (p.Val393=) c.631A>G c.*1528A>G (n.*1528A>G) c.1458A>G (p.Val486=) c.1671A>G (p.Val557=) c.1809A>G (p.Val603=) c.*1452A>G (n.*1452A>G) c.*1734A>G (n.*1734A>G) c.1683A>G (p.Val561=) c.1674A>G (p.Val558=) n.209A>G c.*1531A>G (n.*1531A>G) c.1737A>G (p.Val579=) c.1731A>G (p.Val577=) n.2119A>G n.2166A>G c.1878A>G (p.Val626=) n.2102A>G n.2348A>G | |
| 7 | g.114662151A>T | CA457220272 | FOXP2 | c.1785A>T (p.Val595=) c.1725A>T (p.Val575=) c.1734A>T (p.Val578=) c.1860A>T (p.Val620=) c.1179A>T (p.Val393=) c.631A>T c.*1528A>T (n.*1528A>T) c.1458A>T (p.Val486=) c.1671A>T (p.Val557=) c.1809A>T (p.Val603=) c.*1452A>T (n.*1452A>T) c.*1734A>T (n.*1734A>T) c.1683A>T (p.Val561=) c.1674A>T (p.Val558=) n.209A>T c.*1531A>T (n.*1531A>T) c.1737A>T (p.Val579=) c.1731A>T (p.Val577=) n.2119A>T n.2166A>T c.1878A>T (p.Val626=) n.2102A>T n.2348A>T | |
| 7 | g.114662152G>A | CA368965943 | FOXP2 | c.1786G>A (p.Glu596Lys) c.1726G>A (p.Glu576Lys) c.1735G>A (p.Glu579Lys) c.1861G>A (p.Glu621Lys) c.1180G>A (p.Glu394Lys) c.632G>A c.*1529G>A (n.*1529G>A) c.1459G>A (p.Glu487Lys) c.1672G>A (p.Glu558Lys) c.1810G>A (p.Glu604Lys) c.*1453G>A (n.*1453G>A) c.*1735G>A (n.*1735G>A) c.1684G>A (p.Glu562Lys) c.1675G>A (p.Glu559Lys) n.210G>A c.*1532G>A (n.*1532G>A) c.1738G>A (p.Glu580Lys) c.1732G>A (p.Glu578Lys) n.2120G>A n.2167G>A c.1879G>A (p.Glu627Lys) n.2103G>A n.2349G>A | |
| 7 | g.114662152G>C | CA368965945 | FOXP2 | c.1786G>C (p.Glu596Gln) c.1726G>C (p.Glu576Gln) c.1735G>C (p.Glu579Gln) c.1861G>C (p.Glu621Gln) c.1180G>C (p.Glu394Gln) c.632G>C c.*1529G>C (n.*1529G>C) c.1459G>C (p.Glu487Gln) c.1672G>C (p.Glu558Gln) c.1810G>C (p.Glu604Gln) c.*1453G>C (n.*1453G>C) c.*1735G>C (n.*1735G>C) c.1684G>C (p.Glu562Gln) c.1675G>C (p.Glu559Gln) n.210G>C c.*1532G>C (n.*1532G>C) c.1738G>C (p.Glu580Gln) c.1732G>C (p.Glu578Gln) n.2120G>C n.2167G>C c.1879G>C (p.Glu627Gln) n.2103G>C n.2349G>C | |
| 7 | g.114662152G>T | CA368965944 | FOXP2 | c.1786G>T (p.Glu596Ter) c.1726G>T (p.Glu576Ter) c.1735G>T (p.Glu579Ter) c.1861G>T (p.Glu621Ter) c.1180G>T (p.Glu394Ter) c.632G>T c.*1529G>T (n.*1529G>T) c.1459G>T (p.Glu487Ter) c.1672G>T (p.Glu558Ter) c.1810G>T (p.Glu604Ter) c.*1453G>T (n.*1453G>T) c.*1735G>T (n.*1735G>T) c.1684G>T (p.Glu562Ter) c.1675G>T (p.Glu559Ter) n.210G>T c.*1532G>T (n.*1532G>T) c.1738G>T (p.Glu580Ter) c.1732G>T (p.Glu578Ter) n.2120G>T n.2167G>T c.1879G>T (p.Glu627Ter) n.2103G>T n.2349G>T | |
| 7 | g.114662153A>C | CA368965946 | FOXP2 | c.1787A>C (p.Glu596Ala) c.1727A>C (p.Glu576Ala) c.1736A>C (p.Glu579Ala) c.1862A>C (p.Glu621Ala) c.1181A>C (p.Glu394Ala) c.633A>C c.*1530A>C (n.*1530A>C) c.1460A>C (p.Glu487Ala) c.1673A>C (p.Glu558Ala) c.1811A>C (p.Glu604Ala) c.*1454A>C (n.*1454A>C) c.*1736A>C (n.*1736A>C) c.1685A>C (p.Glu562Ala) c.1676A>C (p.Glu559Ala) n.211A>C c.*1533A>C (n.*1533A>C) c.1739A>C (p.Glu580Ala) c.1733A>C (p.Glu578Ala) n.2121A>C n.2168A>C c.1880A>C (p.Glu627Ala) n.2104A>C n.2350A>C | |
| 7 | g.114662153A>G | CA368965948 | FOXP2 | c.1787A>G (p.Glu596Gly) c.1727A>G (p.Glu576Gly) c.1736A>G (p.Glu579Gly) c.1862A>G (p.Glu621Gly) c.1181A>G (p.Glu394Gly) c.633A>G c.*1530A>G (n.*1530A>G) c.1460A>G (p.Glu487Gly) c.1673A>G (p.Glu558Gly) c.1811A>G (p.Glu604Gly) c.*1454A>G (n.*1454A>G) c.*1736A>G (n.*1736A>G) c.1685A>G (p.Glu562Gly) c.1676A>G (p.Glu559Gly) n.211A>G c.*1533A>G (n.*1533A>G) c.1739A>G (p.Glu580Gly) c.1733A>G (p.Glu578Gly) n.2121A>G n.2168A>G c.1880A>G (p.Glu627Gly) n.2104A>G n.2350A>G | |
| 7 | g.114662153A>T | CA368965947 | FOXP2 | c.1787A>T (p.Glu596Val) c.1727A>T (p.Glu576Val) c.1736A>T (p.Glu579Val) c.1862A>T (p.Glu621Val) c.1181A>T (p.Glu394Val) c.633A>T c.*1530A>T (n.*1530A>T) c.1460A>T (p.Glu487Val) c.1673A>T (p.Glu558Val) c.1811A>T (p.Glu604Val) c.*1454A>T (n.*1454A>T) c.*1736A>T (n.*1736A>T) c.1685A>T (p.Glu562Val) c.1676A>T (p.Glu559Val) n.211A>T c.*1533A>T (n.*1533A>T) c.1739A>T (p.Glu580Val) c.1733A>T (p.Glu578Val) n.2121A>T n.2168A>T c.1880A>T (p.Glu627Val) n.2104A>T n.2350A>T | |
| 7 | g.114662154A>C | CA368965949 | FOXP2 | c.1788A>C (p.Glu596Asp) c.1728A>C (p.Glu576Asp) c.1737A>C (p.Glu579Asp) c.1863A>C (p.Glu621Asp) c.1182A>C (p.Glu394Asp) c.634A>C c.*1531A>C (n.*1531A>C) c.1461A>C (p.Glu487Asp) c.1674A>C (p.Glu558Asp) c.1812A>C (p.Glu604Asp) c.*1455A>C (n.*1455A>C) c.*1737A>C (n.*1737A>C) c.1686A>C (p.Glu562Asp) c.1677A>C (p.Glu559Asp) n.212A>C c.*1534A>C (n.*1534A>C) c.1740A>C (p.Glu580Asp) c.1734A>C (p.Glu578Asp) n.2122A>C n.2169A>C c.1881A>C (p.Glu627Asp) n.2105A>C n.2351A>C | |
| 7 | g.114662154A>G | CA457220274 | FOXP2 | c.1788A>G (p.Glu596=) c.1728A>G (p.Glu576=) c.1737A>G (p.Glu579=) c.1863A>G (p.Glu621=) c.1182A>G (p.Glu394=) c.634A>G c.*1531A>G (n.*1531A>G) c.1461A>G (p.Glu487=) c.1674A>G (p.Glu558=) c.1812A>G (p.Glu604=) c.*1455A>G (n.*1455A>G) c.*1737A>G (n.*1737A>G) c.1686A>G (p.Glu562=) c.1677A>G (p.Glu559=) n.212A>G c.*1534A>G (n.*1534A>G) c.1740A>G (p.Glu580=) c.1734A>G (p.Glu578=) n.2122A>G n.2169A>G c.1881A>G (p.Glu627=) n.2105A>G n.2351A>G | |
| 7 | g.114662154A>T | CA368965950 | FOXP2 | c.1788A>T (p.Glu596Asp) c.1728A>T (p.Glu576Asp) c.1737A>T (p.Glu579Asp) c.1863A>T (p.Glu621Asp) c.1182A>T (p.Glu394Asp) c.634A>T c.*1531A>T (n.*1531A>T) c.1461A>T (p.Glu487Asp) c.1674A>T (p.Glu558Asp) c.1812A>T (p.Glu604Asp) c.*1455A>T (n.*1455A>T) c.*1737A>T (n.*1737A>T) c.1686A>T (p.Glu562Asp) c.1677A>T (p.Glu559Asp) n.212A>T c.*1534A>T (n.*1534A>T) c.1740A>T (p.Glu580Asp) c.1734A>T (p.Glu578Asp) n.2122A>T n.2169A>T c.1881A>T (p.Glu627Asp) n.2105A>T n.2351A>T | |
| 7 | g.114662155T>A | CA368965951 | FOXP2 | c.1789T>A (p.Tyr597Asn) c.1729T>A (p.Tyr577Asn) c.1738T>A (p.Tyr580Asn) c.1864T>A (p.Tyr622Asn) c.1183T>A (p.Tyr395Asn) c.635T>A c.*1532T>A (n.*1532T>A) c.1462T>A (p.Tyr488Asn) c.1675T>A (p.Tyr559Asn) c.1813T>A (p.Tyr605Asn) c.*1456T>A (n.*1456T>A) c.*1738T>A (n.*1738T>A) c.1687T>A (p.Tyr563Asn) c.1678T>A (p.Tyr560Asn) n.213T>A c.*1535T>A (n.*1535T>A) c.1741T>A (p.Tyr581Asn) c.1735T>A (p.Tyr579Asn) n.2123T>A n.2170T>A c.1882T>A (p.Tyr628Asn) n.2106T>A n.2352T>A |