FOXP1
| 1-0368-004 | chr3: 71376590-71376590 | G | A | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
FOXP1
| AU4237302 | chr3: 71100544-71100544 | A | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| HEN0212.p1 | chr3: 71102906-71102906 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_001244813 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.A1G c.A307G c.A301G c.A301G c.A301G c.A301G c.A301G | p.M1V p.M103V p.M101V p.M101V p.M101V p.M101V p.M101V | 16.68 | 3.297E-5 | Guo2018
T
| |
FOXP1
| 2-0057-003 | chr3: 71376590-71376590 | G | A | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
FOXP1
| AU060004 |
Complex Event; expand row to view variants | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| 2-1134-003 | chr3: 71043885-71043885 | G | A | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
FOXP1
| 11403.p1 | chr3: 71026115-71026115 | G | A | exonic | | De novo | stopgain | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.C1207T c.C1279T c.C1513T c.C1507T c.C1507T c.C1504T c.C1507T c.C1507T | p.R403X p.R427X p.R505X p.R503X p.R503X p.R502X p.R503X p.R503X | 37.0 | - | Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Krupp2017
E
Satterstrom2020
E
Zhou2022
GE
| |
FOXP1
| 12817.p1 |
Complex Event; expand row to view variants | | De novo | frameshift insertion | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.714dupA c.786dupA c.1020dupA c.1014dupA c.1014dupA c.1014dupA c.1014dupA c.1014dupA c.714dupA c.786dupA c.1020dupA c.1014dupA c.1014dupA c.1014dupA c.1014dupA c.1014dupA | p.A239fs p.A263fs p.A341fs p.A339fs p.A339fs p.A339fs p.A339fs p.A339fs p.T238fs p.T262fs p.T340fs p.T338fs p.T338fs p.T338fs p.T338fs p.T338fs | - | - | Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Satterstrom2020
E
Trost2022
G
Wilfert2021
G
Willsey2013
E
Zhou2022
GE
| |
FOXP1
| M21566 | chr3: 71064722-71064722 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.G652A c.G724A c.G958A c.G952A c.G952A c.G952A c.G952A c.G952A | p.E218K p.E242K p.E320K p.E318K p.E318K p.E318K p.E318K p.E318K | 36.0 | - | Guo2018
T
Wang2016
T
| |
FOXP1
| M23720 | chr3: 71247418-71247418 | C | T | exonic | | Maternal, Unknown | nonsynonymous SNV | NM_001244814 NM_001244812 NM_001244816 NM_001012505 NM_001244808 NM_001244810 NM_032682 | c.G115A c.G115A c.G115A c.G115A c.G115A c.G115A c.G115A | p.G39R p.G39R p.G39R p.G39R p.G39R p.G39R p.G39R | 31.0 | 1.653E-5 | Guo2018
T
Stessman2017
T
Wang2016
T
| |
FOXP1
| HN0004.p1 | chr3: 71027085-71027086 | CA | C | exonic | | De novo | frameshift deletion | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.941delT c.1013delT c.1247delT c.1241delT c.1241delT c.1241delT c.1241delT c.1241delT | p.L314fs p.L338fs p.L416fs p.L414fs p.L414fs p.L414fs p.L414fs p.L414fs | - | - | Guo2018
T
| |
FOXP1
| 2-1322-004 | chr3: 71096804-71096804 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| AU4186302 | chr3: 71049338-71049338 | A | T | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
FOXP1
| 7-0248-003 | chr3: 71316025-71316025 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| M30624 | chr3: 71027165-71027165 | T | TTGATACCAGATTCAACTGCAAGGAAAAAAACAACGTCTTA | exonic | | Maternal | stopgain | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.861_862insTAAGACGTTGTTTTTTTCCTTGCAGTTGAATCTGGTATCA c.933_934insTAAGACGTTGTTTTTTTCCTTGCAGTTGAATCTGGTATCA c.1167_1168insTAAGACGTTGTTTTTTTCCTTGCAGTTGAATCTGGTATCA c.1161_1162insTAAGACGTTGTTTTTTTCCTTGCAGTTGAATCTGGTATCA c.1161_1162insTAAGACGTTGTTTTTTTCCTTGCAGTTGAATCTGGTATCA c.1161_1162insTAAGACGTTGTTTTTTTCCTTGCAGTTGAATCTGGTATCA c.1161_1162insTAAGACGTTGTTTTTTTCCTTGCAGTTGAATCTGGTATCA c.1161_1162insTAAGACGTTGTTTTTTTCCTTGCAGTTGAATCTGGTATCA | p.S288_V289delinsX p.S312_V313delinsX p.S390_V391delinsX p.S388_V389delinsX p.S388_V389delinsX p.S388_V389delinsX p.S388_V389delinsX p.S388_V389delinsX | - | - | Guo2018
T
| |
FOXP1
| Chen2017:85 | chr3: 71027145-71027145 | G | GGACTT | exonic | | De novo | frameshift insertion | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.881_882insAAGTC c.953_954insAAGTC c.1187_1188insAAGTC c.1181_1182insAAGTC c.1181_1182insAAGTC c.1181_1182insAAGTC c.1181_1182insAAGTC c.1181_1182insAAGTC | p.S294fs p.S318fs p.S396fs p.S394fs p.S394fs p.S394fs p.S394fs p.S394fs | - | - | Chen2017
E
| |
FOXP1
| M02533 | chr3: 71247153-71247153 | G | T | exonic | | Maternal | nonsynonymous SNV | NM_001012505 | c.C247A | p.P83T | 15.86 | - | Guo2018
T
| |
FOXP1
| SP0263417 | chr3: 71027072-71027072 | G | A | exonic | | | stopgain | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.C955T c.C1027T c.C1261T c.C1255T c.C1255T c.C1255T c.C1255T c.C1255T | p.Q319X p.Q343X p.Q421X p.Q419X p.Q419X p.Q419X p.Q419X p.Q419X | 38.0 | - | Zhou2022
GE
| |
FOXP1
| M26811 | chr3: 71179825-71179825 | A | T | exonic | | Maternal | nonsynonymous SNV | NM_001244815 | c.T10A | p.C4S | 12.92 | - | Guo2018
T
| |
FOXP1
| SP0087128 | chr3: 71026813-71026813 | T | C | exonic | | | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.A1109G c.A1181G c.A1415G c.A1409G c.A1409G c.A1406G c.A1409G c.A1409G | p.Y370C p.Y394C p.Y472C p.Y470C p.Y470C p.Y469C p.Y470C p.Y470C | 17.46 | 8.241E-6 | Zhou2022
GE
| |
FOXP1
| 12817_p1 | chr3: 71050170-71050170 | C | CT | exonic | | De novo | frameshift insertion | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.714dupA c.786dupA c.1020dupA c.1014dupA c.1014dupA c.1014dupA c.1014dupA c.1014dupA | p.A239fs p.A263fs p.A341fs p.A339fs p.A339fs p.A339fs p.A339fs p.A339fs | - | - | Fu2022
E
| |
FOXP1
| M16136 | chr3: 71015162-71015162 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.A1468G c.A1540G c.A1774G c.A1768G c.A1768G c.A1765G c.A1816G c.A1768G | p.M490V p.M514V p.M592V p.M590V p.M590V p.M589V p.M606V p.M590V | 14.79 | 4.119E-5 | Guo2018
T
| |
FOXP1
| SP0147668 | chr3: 71026803-71026803 | T | A | exonic | | | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.A1119T c.A1191T c.A1425T c.A1419T c.A1419T c.A1416T c.A1419T c.A1419T | p.L373F p.L397F p.L475F p.L473F p.L473F p.L472F p.L473F p.L473F | 18.37 | - | Zhou2022
GE
| |
FOXP1
| M26196 | chr3: 71015104-71015104 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.C1526T c.C1598T c.C1832T c.C1826T c.C1826T c.C1823T c.C1874T c.C1826T | p.A509V p.A533V p.A611V p.A609V p.A609V p.A608V p.A625V p.A609V | 17.94 | 1.647E-5 | Guo2018
T
| |
FOXP1
| SP0360146 | chr3: 71026115-71026115 | G | A | exonic | | | stopgain | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.C1207T c.C1279T c.C1513T c.C1507T c.C1507T c.C1504T c.C1507T c.C1507T | p.R403X p.R427X p.R505X p.R503X p.R503X p.R502X p.R503X p.R503X | 37.0 | - | Zhou2022
GE
| |
FOXP1
| JS0070.p1 | chr3: 71027086-71027086 | A | AG | exonic | | De novo | frameshift insertion | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.940dupC c.1012dupC c.1246dupC c.1240dupC c.1240dupC c.1240dupC c.1240dupC c.1240dupC | p.L314fs p.L338fs p.L416fs p.L414fs p.L414fs p.L414fs p.L414fs p.L414fs | - | - | Guo2018
T
| |
FOXP1
| Ohashi2021:ASD-160 | chr3: 71026789-71026789 | C | T | intronic | | | | | | | - | - | Ohashi2021
ET
| |
FOXP1
| 200675573_1082035017 | chr3: 71027145-71027145 | G | GGACTT | exonic | | De novo | frameshift insertion | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.881_882insAAGTC c.953_954insAAGTC c.1187_1188insAAGTC c.1181_1182insAAGTC c.1181_1182insAAGTC c.1181_1182insAAGTC c.1181_1182insAAGTC c.1181_1182insAAGTC | p.S294fs p.S318fs p.S396fs p.S394fs p.S394fs p.S394fs p.S394fs p.S394fs | - | - | Fu2022
E
| |
FOXP1
| 1-0037-004 | chr3: 71021763-71021763 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_032682 | c.C1295T c.C1367T c.C1601T c.C1595T c.C1595T c.C1592T c.C1595T | p.A432V p.A456V p.A534V p.A532V p.A532V p.A531V p.A532V | 27.4 | 8.237E-6 | Trost2022
G
Zhou2022
GE
| |
FOXP1
| MSSNG00016-003 | chr3: 71015081-71015081 | C | T | exonic | | De novo | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.G1549A c.G1621A c.G1855A c.G1849A c.G1849A c.G1846A c.G1897A c.G1849A | p.E517K p.E541K p.E619K p.E617K p.E617K p.E616K p.E633K p.E617K | 22.8 | - | Trost2022
G
Zhou2022
GE
| |
FOXP1
| Disecmas_121P | chr3: 71096183-71096183 | G | GT | exonic | | De novo | frameshift insertion | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.273dupA c.345dupA c.579dupA c.573dupA c.573dupA c.573dupA c.573dupA c.573dupA | p.Q92fs p.Q116fs p.Q194fs p.Q192fs p.Q192fs p.Q192fs p.Q192fs p.Q192fs | - | - | Fu2022
E
| |
FOXP1
| AU2514301 | chr3: 71101750-71101750 | G | GT | exonic | | | frameshift insertion | NM_001244813 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.147dupA c.453dupA c.447dupA c.447dupA c.447dupA c.447dupA c.447dupA | p.Q50fs p.Q152fs p.Q150fs p.Q150fs p.Q150fs p.Q150fs p.Q150fs | - | - | Zhou2022
GE
| |
FOXP1
| AU1860302 | chr3: 71251048-71251048 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| 2-1644-003 | chr3: 71572853-71572853 | G | GA | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| SX0015.p1 | chr3: 71096193-71096193 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.G264A c.G336A c.G570A c.G564A c.G564A c.G564A c.G564A c.G564A | p.M88I p.M112I p.M190I p.M188I p.M188I p.M188I p.M188I p.M188I | 16.31 | - | Guo2018
T
| |
FOXP1
| GX0547.p1 | chr3: 71179794-71179798 | TGCGG | T | exonic | | Maternal | frameshift deletion | NM_001244815 | c.37_40del | p.P13fs | - | - | Guo2018
T
| |
FOXP1
| AU4269301 | chr3: 71169564-71169564 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| 1-0285-003 | chr3: 71263767-71263767 | A | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| AU3891303 | chr3: 71443178-71443178 | C | T | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
FOXP1
| HN0001.p1 | chr3: 71247125-71247125 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_001012505 | c.C275T | p.P92L | 15.78 | - | Guo2018
T
| |
FOXP1
| GX0101.p1 | chr3: 71027165-71027165 | T | C | exonic | | Paternal | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.A862G c.A934G c.A1168G c.A1162G c.A1162G c.A1162G c.A1162G c.A1162G | p.S288G p.S312G p.S390G p.S388G p.S388G p.S388G p.S388G p.S388G | 15.19 | - | Guo2018
T
| |
FOXP1
| 2-1693-003 | chr3: 71037477-71037477 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| 08C72698 | chr3: 71050205-71050205 | A | G | exonic | | De novo | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.T680C c.T752C c.T986C c.T980C c.T980C c.T980C c.T980C c.T980C | p.L227P p.L251P p.L329P p.L327P p.L327P p.L327P p.L327P p.L327P | 23.4 | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
FOXP1
| AU3859301 | chr3: 71247280-71247280 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| 1-0161-003 | chr3: 71067022-71067024 | CTG | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| 2-1174-006 | chr3: 71242618-71242618 | T | TG | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
FOXP1
| 211-5583-3 | chr3: 71064721-71064721 | T | A | exonic | | Unknown | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.A653T c.A725T c.A959T c.A953T c.A953T c.A953T c.A953T c.A953T | p.E218V p.E242V p.E320V p.E318V p.E318V p.E318V p.E318V p.E318V | 29.5 | - | Stessman2017
T
| |
FOXP1
| 11625.p1 | chr3: 71593936-71593936 | T | C | intronic | | De novo | | | | | - | - | Wilfert2021
G
| |
FOXP1
| Miyake2023:22716 | chr3: 71026789-71026789 | C | T | intronic | | De novo | | | | | - | - | Miyake2023
E
| |
FOXP1
| M17539 | chr3: 71247408-71247408 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_001244814 NM_001244812 NM_001244816 NM_001012505 NM_001244808 NM_001244810 NM_032682 | c.C125T c.C125T c.C125T c.C125T c.C125T c.C125T c.C125T | p.P42L p.P42L p.P42L p.P42L p.P42L p.P42L p.P42L | 32.0 | 8.266E-6 | Wang2016
T
| |
FOXP1
| M02393 | chr3: 71247423-71247423 | G | C | exonic | | Paternal | nonsynonymous SNV | NM_001244814 NM_001244812 NM_001244816 NM_001012505 NM_001244808 NM_001244810 NM_032682 | c.C110G c.C110G c.C110G c.C110G c.C110G c.C110G c.C110G | p.S37C p.S37C p.S37C p.S37C p.S37C p.S37C p.S37C | 35.0 | - | Guo2018
T
Wang2016
T
| |
FOXP1
| SP0010429 | chr3: 71101750-71101751 | GT | G | exonic | | De novo | frameshift deletion | NM_001244813 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.147delA c.453delA c.447delA c.447delA c.447delA c.447delA c.447delA | p.K49fs p.K151fs p.K149fs p.K149fs p.K149fs p.K149fs p.K149fs | - | - | Feliciano2019
E
Fu2022
E
Trost2022
G
Zhou2022
GE
| |
FOXP1
| M12496 | chr3: 71247408-71247408 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_001244814 NM_001244812 NM_001244816 NM_001012505 NM_001244808 NM_001244810 NM_032682 | c.C125T c.C125T c.C125T c.C125T c.C125T c.C125T c.C125T | p.P42L p.P42L p.P42L p.P42L p.P42L p.P42L p.P42L | 32.0 | 8.266E-6 | Wang2016
T
| |
FOXP1
| GX0338.p1 | chr3: 71247423-71247423 | G | C | exonic | | Maternal | nonsynonymous SNV | NM_001244814 NM_001244812 NM_001244816 NM_001012505 NM_001244808 NM_001244810 NM_032682 | c.C110G c.C110G c.C110G c.C110G c.C110G c.C110G c.C110G | p.S37C p.S37C p.S37C p.S37C p.S37C p.S37C p.S37C | 35.0 | - | Guo2018
T
| |
FOXP1
| M31817 | chr3: 71247378-71247378 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_001244814 NM_001244812 NM_001244816 NM_001012505 NM_001244808 NM_001244810 NM_032682 | c.C155T c.C155T c.C155T c.C155T c.C155T c.C155T c.C155T | p.A52V p.A52V p.A52V p.A52V p.A52V p.A52V p.A52V | 33.0 | 2.486E-5 | Guo2018
T
| |
FOXP1
| 2-1561-003 | chr3: 71578502-71578502 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| 80001100872 | chr3: 71027005-71027016 | TCTGAGTACCGC | T | exonic | | De novo | frameshift deletion | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.1011_1021del c.1083_1093del c.1317_1327del c.1311_1321del c.1311_1321del c.1311_1321del c.1311_1321del c.1311_1321del | p.R337fs p.R361fs p.R439fs p.R437fs p.R437fs p.R437fs p.R437fs p.R437fs | - | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
FOXP1
| GX0065.p1 | chr3: 71008420-71008420 | G | C | exonic | | De novo | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.C1712G c.C1784G c.C2018G c.C2012G c.C2012G c.C2009G c.C2060G c.C2012G | p.P571R p.P595R p.P673R p.P671R p.P671R p.P670R p.P687R p.P671R | 11.36 | - | Guo2018
T
| |
FOXP1
| 2-1506-003 | chr3: 71158995-71159011 | TACACACACACACACAC | TACACACACACACAC | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
FOXP1
| 08C74834 | chr3: 71101750-71101750 | G | GT | exonic | | De novo | frameshift insertion | NM_001244813 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.147dupA c.453dupA c.447dupA c.447dupA c.447dupA c.447dupA c.447dupA | p.Q50fs p.Q152fs p.Q150fs p.Q150fs p.Q150fs p.Q150fs p.Q150fs | - | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
FOXP1
| 217-14296-4170 | chr3: 71101750-71101751 | GT | GTGT | exonic | | De novo | frameshift insertion | NM_001244813 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.146_147insAC c.452_453insAC c.446_447insAC c.446_447insAC c.446_447insAC c.446_447insAC c.446_447insAC | p.K49fs p.K151fs p.K149fs p.K149fs p.K149fs p.K149fs p.K149fs | - | - | Stessman2017
T
| |
FOXP1
| SP0026093 | chr3: 71019886-71019886 | C | CCTGTAAAGCTGCA | splicing | | De novo | splicing | | | | - | - | Feliciano2019
E
Fu2022
E
Trost2022
G
Zhou2022
GE
| |
FOXP1
| 2-1391-003 | chr3: 71093290-71093290 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| 2-1391-003 | chr3: 71093110-71093110 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| AU031204 | chr3: 71425749-71425749 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| GX0296.p1 | chr3: 71247153-71247153 | G | T | exonic | | Maternal | nonsynonymous SNV | NM_001012505 | c.C247A | p.P83T | 15.86 | - | Guo2018
T
| |
FOXP1
| Hu2022:55 | chr3: 71015071-71015071 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.G1559A c.G1631A c.G1865A c.G1859A c.G1859A c.G1856A c.G1907A c.G1859A | p.S520N p.S544N p.S622N p.S620N p.S620N p.S619N p.S636N p.S620N | 21.7 | - | Hu2022
T
| |
FOXP1
| SP0044326 | chr3: 71021784-71021784 | C | T | exonic | | De novo | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_032682 | c.G1274A c.G1346A c.G1580A c.G1574A c.G1574A c.G1571A c.G1574A | p.R425Q p.R449Q p.R527Q p.R525Q p.R525Q p.R524Q p.R525Q | 28.6 | - | Antaki2022
GE
Trost2022
G
Zhou2022
GE
| |
FOXP1
| SP0011684 | chr3: 71019881-71019889 | TCTTACCTG | T | exonic | | De novo | nonframeshift deletion | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.1420_1422del c.1492_1494del c.1726_1728del c.1720_1722del c.1720_1722del c.1717_1719del c.1768_1770del c.1720_1722del | p.474_474del p.498_498del p.576_576del p.574_574del p.574_574del p.573_573del p.590_590del p.574_574del | - | - | Antaki2022
GE
Fu2022
E
Trost2022
G
Zhou2022
GE
| |
FOXP1
| 1-0385-003 | chr3: 71479406-71479406 | C | A | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
FOXP1
| 11942.p1 | chr3: 71592594-71592594 | C | T | UTR5 | | Mosaic | | | | | - | - | Dou2017
E
| |
FOXP1
| SP0064489 | chr3: 71021817-71021817 | C | T | exonic | | De novo | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_032682 | c.G1241A c.G1313A c.G1547A c.G1541A c.G1541A c.G1538A c.G1541A | p.R414H p.R438H p.R516H p.R514H p.R514H p.R513H p.R514H | 23.4 | - | Antaki2022
GE
Trost2022
G
Zhou2022
GE
| |
FOXP1
| SP0014949 | chr3: 71037144-71037144 | C | T | splicing | | De novo | splicing | | | | 20.6 | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
FOXP1
| 200675573@1082035017 | chr3: 71027145-71027145 | G | GGACTT | exonic | | De novo | frameshift insertion | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.881_882insAAGTC c.953_954insAAGTC c.1187_1188insAAGTC c.1181_1182insAAGTC c.1181_1182insAAGTC c.1181_1182insAAGTC c.1181_1182insAAGTC c.1181_1182insAAGTC | p.S294fs p.S318fs p.S396fs p.S394fs p.S394fs p.S394fs p.S394fs p.S394fs | - | - | Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
FOXP1
| REACH000189 | chr3: 71021785-71021785 | G | A | exonic | | De novo | stopgain | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_032682 | c.C1273T c.C1345T c.C1579T c.C1573T c.C1573T c.C1570T c.C1573T | p.R425X p.R449X p.R527X p.R525X p.R525X p.R524X p.R525X | 38.0 | - | Antaki2022
GE
Trost2022
G
Zhou2022
GE
| |
FOXP1
| SSC06364 | chr3: 71050170-71050170 | C | CT | exonic | | | frameshift insertion | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.714dupA c.786dupA c.1020dupA c.1014dupA c.1014dupA c.1014dupA c.1014dupA c.1014dupA | p.A239fs p.A263fs p.A341fs p.A339fs p.A339fs p.A339fs p.A339fs p.A339fs | - | - | Antaki2022
GE
| |
FOXP1
| SP0028843 | chr3: 71247280-71247280 | C | T | intronic | | De novo | | | | | - | - | Fu2022
E
| |
FOXP1
| SP0077962 | chr3: 71026868-71026877 | TATCTGCTGA | T | exonic | | De novo | frameshift deletion | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.1049_1053del c.1121_1125del c.1355_1359del c.1349_1353del c.1349_1353del c.1349_1350del c.1349_1353del c.1349_1353del | p.A350fs p.A374fs p.A452fs p.A450fs p.A450fs p.D450fs p.A450fs p.A450fs | - | - | Antaki2022
GE
Fu2022
E
Zhou2022
GE
| |
FOXP1
| SP0080202 | chr3: 71247426-71247426 | C | T | exonic | | De novo | nonsynonymous SNV | NM_001244814 NM_001244812 NM_001244816 NM_001012505 NM_001244808 NM_001244810 NM_032682 | c.G107A c.G107A c.G107A c.G107A c.G107A c.G107A c.G107A | p.R36Q p.R36Q p.R36Q p.R36Q p.R36Q p.R36Q p.R36Q | 36.0 | 2.479E-5 | Fu2022
E
Zhou2022
GE
| |
FOXP1
| Hu2022:62 | chr3: 71037180-71037180 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.G811A c.G883A c.G1117A c.G1111A c.G1111A c.G1111A c.G1111A c.G1111A | p.V271M p.V295M p.V373M p.V371M p.V371M p.V371M p.V371M p.V371M | 6.736 | - | Hu2022
T
| |
FOXP1
| 5-0129-003 | chr3: 71159238-71159238 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| AU4237301 | chr3: 71100544-71100544 | A | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| 1-0032-003 | chr3: 71376590-71376590 | G | A | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
FOXP1
| 1-0329-004 | chr3: 71658089-71658089 | C | T | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
FOXP1
| 217-14254-3770 | chr3: 71050205-71050205 | A | G | exonic | | Unknown | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.T680C c.T752C c.T986C c.T980C c.T980C c.T980C c.T980C c.T980C | p.L227P p.L251P p.L329P p.L327P p.L327P p.L327P p.L327P p.L327P | 23.4 | - | Stessman2017
T
| |
FOXP1
| Hu2022:83 | chr3: 71247424-71247424 | A | G | exonic | | Unknown | nonsynonymous SNV | NM_001244814 NM_001244812 NM_001244816 NM_001012505 NM_001244808 NM_001244810 NM_032682 | c.T109C c.T109C c.T109C c.T109C c.T109C c.T109C c.T109C | p.S37P p.S37P p.S37P p.S37P p.S37P p.S37P p.S37P | 22.8 | - | Hu2022
T
| |
FOXP1
| Cherot2017:2 | chr3: 71026977-71026977 | A | G | splicing | | Unknown | splicing | | | | 22.0 | - | Cherot2017
E
| |
FOXP1
| 1-0903-003 | chr3: 71051577-71051577 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| SJD_22.3 | chr3: 71061140-71061140 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| GX0366.p1 | chr3: 71247423-71247423 | G | C | exonic | | Unknown | nonsynonymous SNV | NM_001244814 NM_001244812 NM_001244816 NM_001012505 NM_001244808 NM_001244810 NM_032682 | c.C110G c.C110G c.C110G c.C110G c.C110G c.C110G c.C110G | p.S37C p.S37C p.S37C p.S37C p.S37C p.S37C p.S37C | 35.0 | - | Guo2018
T
| |
FOXP1
| D4S2Z-01 | chr3: 71028485-71028485 | T | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| MSSNG00243-003 | chr3: 71046922-71046922 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| 4-0035-003 | chr3: 71011259-71011259 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| 195485 | chr3: 71179778-71179789 | TAAACAGGAAGT | T | exonic | | Maternal | frameshift deletion | NM_001244815 | c.46_56del | p.T16fs | - | - | Stessman2017
T
| |
FOXP1
| 5-5035-003 | chr3: 71028466-71028466 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| AU3586303 | chr3: 71117741-71117741 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| 7-0294-003 | chr3: 71009631-71009631 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| Mahjani2021:106 | chr3: 71026184-71026184 | C | T | exonic | | | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.G1138A c.G1210A c.G1444A c.G1438A c.G1438A c.G1435A c.G1438A c.G1438A | p.E380K p.E404K p.E482K p.E480K p.E480K p.E479K p.E480K p.E480K | 25.7 | - | Mahjani2021
E
| |
FOXP1
| MSSNG00379-003 | chr3: 71169751-71169751 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| SP0049648 | chr3: 71179609-71179609 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| AU2817301 | chr3: 71147880-71147880 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| M01483 | chr3: 71015120-71015120 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.G1510A c.G1582A c.G1816A c.G1810A c.G1810A c.G1807A c.G1858A c.G1810A | p.E504K p.E528K p.E606K p.E604K p.E604K p.E603K p.E620K p.E604K | 36.0 | - | Guo2018
T
Wang2016
T
| |
FOXP1
| 2-1333-003 | chr3: 71161284-71161284 | T | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| 1-0681-003 | chr3: 71097820-71097820 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| AU2448301 | chr3: 71111044-71111044 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| MSSNG00404-003 | chr3: 71087659-71087659 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| MSSNG00031-004 | chr3: 71090291-71090291 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| 4-0075-003 | chr3: 71201236-71201237 | TA | GG | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| 5-5065-003 | chr3: 71206393-71206393 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| 1-0838-003 | chr3: 71189639-71189639 | T | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| 1029 | chr3: 71198768-71198771 | ATTT | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| Mahjani2021:110 | chr3: 71027005-71027016 | TCTGAGTACCGC | T | exonic | | | frameshift deletion | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.1011_1021del c.1083_1093del c.1317_1327del c.1311_1321del c.1311_1321del c.1311_1321del c.1311_1321del c.1311_1321del | p.R337fs p.R361fs p.R439fs p.R437fs p.R437fs p.R437fs p.R437fs p.R437fs | - | - | Mahjani2021
E
| |
FOXP1
| SP0086689 | chr3: 71179609-71179609 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| SP0098529 | chr3: 71179609-71179609 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| SP0087397 | chr3: 71179609-71179609 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| SP0140190 | chr3: 71179609-71179609 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| F10016-1 | chr3: 71021818-71021818 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_032682 | c.C1240T c.C1312T c.C1546T c.C1540T c.C1540T c.C1537T c.C1540T | p.R414C p.R438C p.R516C p.R514C p.R514C p.R513C p.R514C | 21.4 | - | Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
FOXP1
| MSSNG00066-003 | chr3: 71286155-71286155 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| SSC00370 | chr3: 71026115-71026115 | G | A | exonic | | De novo | stopgain | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.C1207T c.C1279T c.C1513T c.C1507T c.C1507T c.C1504T c.C1507T c.C1507T | p.R403X p.R427X p.R505X p.R503X p.R503X p.R502X p.R503X p.R503X | 37.0 | - | Fu2022
E
Lim2017
E
Trost2022
G
| |
FOXP1
| 3-0668-000 | chr3: 71303583-71303583 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| 2-1093-009 | chr3: 71484353-71484353 | G | GGGA | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
FOXP1
| 1-1036-003 | chr3: 71264628-71264628 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| 2-1787-003 | chr3: 71277006-71277006 | G | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| 2-1148-004 | chr3: 71337579-71337579 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| 2-1261-004 | chr3: 71242599-71242599 | G | CCTTTGTTTGTTGTTGTTGTTGTTGTTGT | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| MSSNG00061-003 | chr3: 71249861-71249861 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| G01-GEA-36-HI | chr3: 71021817-71021817 | C | T | exonic | | De novo | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_032682 | c.G1241A c.G1313A c.G1547A c.G1541A c.G1541A c.G1538A c.G1541A | p.R414H p.R438H p.R516H p.R514H p.R514H p.R513H p.R514H | 23.4 | - | Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
FOXP1
| 14-600 | chr3: 71208056-71208056 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| 2-1481-003 | chr3: 71229143-71229143 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| 7-0249-004 | chr3: 71384745-71384745 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| 2-1686-003 | chr3: 71602828-71602831 | GAAC | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| 2-0295-003 | chr3: 71606662-71606662 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| 1-0018-004 | chr3: 71572496-71572497 | CA | TT | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| F1561-1 | chr3: 71096108-71096108 | G | A | exonic | | De novo | stopgain | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.C349T c.C421T c.C655T c.C649T c.C649T c.C649T c.C649T c.C649T | p.Q117X p.Q141X p.Q219X p.Q217X p.Q217X p.Q217X p.Q217X p.Q217X | 37.0 | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
FOXP1
| 1-1154-003 | chr3: 71587572-71587572 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| M13295 | chr3: 71247198-71247198 | G | T | exonic | | Paternal | nonsynonymous SNV | NM_001012505 | c.C202A | p.P68T | 12.29 | - | Guo2018
T
| |
FOXP1
| 7-0347-003 | chr3: 71525461-71525461 | T | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| M19747 | chr3: 71015168-71015168 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.G1462A c.G1534A c.G1768A c.G1762A c.G1762A c.G1759A c.G1810A c.G1762A | p.A488T p.A512T p.A590T p.A588T p.A588T p.A587T p.A604T p.A588T | 22.7 | 3.0E-4 | Guo2018
T
| |
FOXP1
| 2-1519-003 | chr3: 71554358-71554358 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| 3-0497-000 | chr3: 71323816-71323819 | GATA | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| MSSNG00021-004 | chr3: 71456065-71456065 | A | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| 2-0135-003 | chr3: 71086862-71086862 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| Stessman2017:ASD_1287-1 | chr3: 71015108-71015108 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_001244813 NM_001244812 NM_001244815 NM_001244814 NM_001244816 NM_001244808 NM_001244810 NM_032682 | c.G1522A c.G1594A c.G1828A c.G1822A c.G1822A c.G1819A c.G1870A c.G1822A | p.G508R p.G532R p.G610R p.G608R p.G608R p.G607R p.G624R p.G608R | 35.0 | 1.647E-5 | Stessman2017
T
| |
FOXP1
| REACH000747 | chr3: 71629158-71629164 | TTCTGCA | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| AU2129301 | chr3: 71191380-71191380 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
FOXP1
| 1-0548-003 | chr3: 71613055-71613055 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
FOXP1
| AU2186301 | chr3: 71628383-71628383 | G | GA | intronic | | De novo | | | | | - | - | Trost2022
G
| |