ASH1L
| SP0085012 | chr1: 155348291-155348291 | C | G | intronic | | | | | | | - | - | Zhou2022
GE
| |
ASH1L
| M03093 | chr1: 155491232-155491232 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.A79G | p.S27G | 11.1 | 8.238E-6 | Guo2018
T
| |
ASH1L
| M19813 | chr1: 155448636-155448636 | C | T | exonic | | Paternal, Unknown | nonsynonymous SNV | NM_018489 | c.G4025A | p.R1342Q | 26.4 | 3.303E-5 | Guo2018
T
Stessman2017
T
Wang2016
T
| |
ASH1L
| Lob2024:ASD37 | chr1: 155327510-155327510 | G | A | exonic | | | stopgain | NM_018489 | c.C6826T | p.R2276X | 51.0 | - | Lob2024
ET
| |
ASH1L
| M10042 | chr1: 155451250-155451250 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.C1411T | p.R471W | 15.99 | 3.312E-5 | Wang2016
T
| |
ASH1L
| 1-1006-003A | chr1: 155450702-155450702 | C | CT | exonic | | De novo | frameshift insertion | NM_018489 | c.1958dupA | p.K653fs | - | - | Trost2022
G
Zhou2022
GE
| |
ASH1L
| 1-0155-003 | chr1: 155512068-155512068 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
ASH1L
| 1-1217-003 | chr1: 155447757-155447759 | GAA | G | exonic | | De novo | frameshift deletion | NM_018489 | c.4902_4903del | p.F1634fs | - | - | Trost2022
G
Zhou2022
GE
| |
ASH1L
| 1-1134-003 | chr1: 155451887-155451888 | AC | A | exonic | | De novo | frameshift deletion | NM_018489 | c.773delG | p.G258fs | - | - | Trost2022
G
Zhou2022
GE
| |
ASH1L
| SP0030168 | chr1: 155448617-155448622 | CTTTTT | C | exonic | | De novo | frameshift deletion | NM_018489 | c.4039_4043del | p.K1347fs | - | - | Antaki2022
GE
Fu2022
E
Zhou2022
GE
| |
ASH1L
| ACGC_M19813 | chr1: 155448636-155448636 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.G4025A | p.R1342Q | 26.4 | 3.303E-5 | Wang2020
T
| |
ASH1L
| SSC09193 | chr1: 155340680-155340680 | C | A | exonic | | | stopgain | NM_018489 | c.G6427T | p.E2143X | 52.0 | - | Antaki2022
GE
| |
ASH1L
| M23227 | chr1: 155429689-155429689 | C | T | exonic | | De novo | nonsynonymous SNV | NM_018489 | c.G4985A | p.G1662D | 18.33 | - | Guo2018
T
Wang2016
T
| |
ASH1L
| SP0139640 | chr1: 155451313-155451313 | G | A | exonic | | De novo | stopgain | NM_018489 | c.C1348T | p.Q450X | 39.0 | - | Antaki2022
GE
Fu2022
E
Trost2022
G
Zhou2022
GE
| |
ASH1L
| SP0097307 | chr1: 155449093-155449093 | C | CA | exonic | | De novo | stopgain | NM_018489 | c.3567dupT | p.E1190_S1191delinsX | - | - | Antaki2022
GE
Fu2022
E
Trost2022
G
Zhou2022
GE
| |
ASH1L
| ACGC_M15039 | chr1: 155316175-155316175 | C | G | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.G7889C | p.R2630T | 36.0 | - | Wang2020
T
| |
ASH1L
| SSC02002 | chr1: 155317482-155317482 | C | CCTTG | exonic | | De novo | frameshift insertion | NM_018489 | c.7767_7768insCAAG | p.D2590fs | - | - | Antaki2022
GE
Fu2022
E
Trost2022
G
| |
ASH1L
| ACGC_M17685 | chr1: 155448115-155448115 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.C4546T | p.R1516C | 19.09 | - | Wang2020
T
| |
ASH1L
| SP0062383 | chr1: 155324288-155324288 | G | A | exonic | | De novo | stopgain | NM_018489 | c.C7189T | p.R2397X | 51.0 | - | Antaki2022
GE
Fu2022
E
Trost2022
G
Zhou2022
GE
| |
ASH1L
| ACGC_M23185 | chr1: 155349842-155349842 | G | C | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.C6169G | p.H2057D | 27.1 | - | Wang2020
T
| |
ASH1L
| SP0104732 | chr1: 155317647-155317647 | G | A | exonic | | De novo | stopgain | NM_018489 | c.C7603T | p.R2535X | 52.0 | - | Antaki2022
GE
Fu2022
E
Trost2022
G
Zhou2022
GE
| |
ASH1L
| M31944 | chr1: 155408695-155408695 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.C5251T | p.R1751C | 11.08 | 3.295E-5 | Guo2018
T
| |
ASH1L
| GX0086.p1 | chr1: 155408266-155408266 | T | C | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.A5680G | p.T1894A | 15.65 | 8.255E-6 | Guo2018
T
| |
ASH1L
| GX0489.p1 | chr1: 155448094-155448094 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.G4567A | p.A1523T | 1.612 | - | Guo2018
T
| |
ASH1L
| HN0047.p1 | chr1: 155408695-155408695 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.C5251T | p.R1751C | 11.08 | 3.295E-5 | Guo2018
T
| |
ASH1L
| A4 | chr1: 155499769-155499769 | A | T | intronic | | De novo | | | | | - | - | Wu2018
G
| |
ASH1L
| SP0074229 | chr1: 155451739-155451739 | G | GT | exonic | | De novo | frameshift insertion | NM_018489 | c.921dupA | p.L308fs | - | - | Antaki2022
GE
Fu2022
E
Trost2022
G
Zhou2022
GE
| |
ASH1L
| M30862 | chr1: 155451004-155451004 | T | C | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.A1657G | p.S553G | 11.25 | - | Guo2018
T
| |
ASH1L
| 2-1475-003 | chr1: 155387025-155387026 | CT | C | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
ASH1L
| M30346 | chr1: 155450971-155450971 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.G1690A | p.V564I | 13.24 | - | Guo2018
T
| |
ASH1L
| HN0048.p1 | chr1: 155452158-155452158 | T | A | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.A503T | p.Q168L | 16.29 | - | Guo2018
T
| |
ASH1L
| GX0003.p1 | chr1: 155452054-155452054 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.G607A | p.D203N | 19.54 | - | Guo2018
T
| |
ASH1L
| GX0271.p1 | chr1: 155449182-155449182 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.G3479A | p.R1160Q | 16.28 | 4.121E-5 | Guo2018
T
| |
ASH1L
| GX0232.p1 | chr1: 155449170-155449170 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.C3491T | p.P1164L | 18.87 | - | Guo2018
T
| |
ASH1L
| Wright2024:Par822 | chr1: 155451745-155451745 | T | TT | exonic | | De novo | frameshift insertion | NM_018489 | c.916dupA | p.K306fs | - | - | Wright2024
E
| |
ASH1L
| 1-0820-003 |
Complex Event; expand row to view variants | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
ASH1L
| GX0183.p1 | chr1: 155450407-155450407 | T | C | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.A2254G | p.N752D | 10.53 | - | Guo2018
T
| |
ASH1L
| GX0415.p1 | chr1: 155450188-155450188 | T | C | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.A2473G | p.K825E | 11.37 | 8.283E-6 | Guo2018
T
| |
ASH1L
| ACGC_HEN426.p1 | chr1: 155447791-155447791 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.C4870T | p.R1624W | 18.49 | 8.24E-6 | Wang2020
T
| |
ASH1L
| 3-0307-000 | chr1: 155441777-155441777 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
ASH1L
| Iowa_250_4_a.2.1 | chr1: 155307999-155307999 | G | GT | exonic | | Unknown | frameshift insertion | NM_018489 | c.8683dupA | p.T2895fs | - | 6.66E-5 | Wang2020
T
| |
ASH1L
| GX0316.p1 | chr1: 155491016-155491016 | G | T | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.C295A | p.P99T | 24.4 | - | Guo2018
T
| |
ASH1L
| SanDiego_01030-X5Q6F | chr1: 155447791-155447791 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.C4870T | p.R1624W | 18.49 | 8.24E-6 | Wang2020
T
| |
ASH1L
| Leuven_86190113 | chr1: 155311728-155311728 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.C8459T | p.S2820L | 33.0 | 3.296E-5 | Wang2020
T
| |
ASH1L
| SX0031.p1 | chr1: 155447943-155447943 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.C4718T | p.T1573I | 14.63 | 3.297E-5 | Guo2018
T
| |
ASH1L
| ACGC_SX0048.p1 | chr1: 155322565-155322565 | T | C | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.A7298G | p.E2433G | 32.0 | - | Wang2020
T
| |
ASH1L
| Leuven2_76241975 | chr1: 155448756-155448756 | C | G | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.G3905C | p.R1302P | 17.87 | - | Wang2020
T
| |
ASH1L
| SP0045624 | chr1: 155348375-155348375 | T | TG | intronic | | De novo | | | | | - | - | Fu2022
E
| |
ASH1L
| HEN0058.p1 | chr1: 155452104-155452104 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.C557T | p.A186V | 13.53 | - | Guo2018
T
| |
ASH1L
| ACGC_GD0027.p1 | chr1: 155317506-155317506 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.C7744T | p.R2582C | 34.0 | 2.471E-5 | Wang2020
T
| |
ASH1L
| HEN0278.p1 | chr1: 155448027-155448027 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.C4634T | p.P1545L | 23.4 | - | Guo2018
T
| |
ASH1L
| SanDiego_P2S8Z | chr1: 155448057-155448057 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.G4604T | p.R1535L | 16.65 | 8.237E-6 | Wang2020
T
| |
ASH1L
| Leuven2_72894686 | chr1: 155317667-155317667 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.G7583A | p.G2528E | 32.0 | - | Wang2020
T
| |
ASH1L
| AGRE_07C62594 | chr1: 155308162-155308162 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.C8521T | p.R2841C | 17.04 | 3.299E-5 | Wang2020
T
| |
ASH1L
| Courchesne_B2M9F | chr1: 155448901-155448901 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.C3760T | p.R1254C | 18.17 | 5.773E-5 | Wang2020
T
| |
ASH1L
| M08611 | chr1: 155319144-155319144 | T | G | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.A7528C | p.M2510L | 22.6 | - | Guo2018
T
| |
ASH1L
| AGRE_AU1802301 | chr1: 155308162-155308162 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.C8521T | p.R2841C | 17.04 | 3.299E-5 | Wang2020
T
| |
ASH1L
| AGRE_07C62595 | chr1: 155308162-155308162 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.C8521T | p.R2841C | 17.04 | 3.299E-5 | Wang2020
T
| |
ASH1L
| SAGE_138.03 | chr1: 155311773-155311773 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.C8414T | p.A2805V | 36.0 | 8.236E-6 | Wang2020
T
| |
ASH1L
| JS0046.p1 | chr1: 155491209-155491209 | C | G | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.G102C | p.K34N | 15.37 | - | Guo2018
T
| |
ASH1L
| SAGE_372.03 | chr1: 155448756-155448756 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.G3905A | p.R1302Q | 21.3 | 1.65E-5 | Wang2020
T
| |
ASH1L
| TASC_211-5659-3 | chr1: 155448901-155448901 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.C3760T | p.R1254C | 18.17 | 5.773E-5 | Wang2020
T
| |
ASH1L
| M27787 | chr1: 155348172-155348172 | C | A | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.G6232T | p.V2078F | 35.0 | - | Guo2018
T
Wang2016
T
| |
ASH1L
| Iowa_224_1_a.2.1 | chr1: 155448901-155448901 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.C3760T | p.R1254C | 18.17 | 5.773E-5 | Wang2020
T
| |
ASH1L
| Wright2024:Par1297 | chr1: 155448994-155448998 | TCTTT | T | exonic | | Unknown | frameshift deletion | NM_018489 | c.3663_3666del | p.K1221fs | - | - | Wright2024
E
| |
ASH1L
| M17447 | chr1: 155450475-155450475 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.G2186A | p.R729Q | 12.87 | 3.313E-5 | Guo2018
T
Wang2016
T
| |
ASH1L
| ACGC_M13309 | chr1: 155327420-155327420 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.C6916T | p.R2306W | 21.7 | 6.59E-5 | Wang2020
T
| |
ASH1L
| M20837 | chr1: 155348166-155348166 | C | T | exonic | | De novo | nonsynonymous SNV | NM_018489 | c.G6238A | p.V2080I | 35.0 | 6.589E-5 | Stessman2017
T
Wang2016
T
| |
ASH1L
| M3093 | chr1: 155491232-155491232 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.A79G | p.S27G | 11.1 | 8.238E-6 | Wang2016
T
| |
ASH1L
| Iowa_194_1_a.2.1 | chr1: 155313212-155313212 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.G8186A | p.R2729H | 35.0 | - | Wang2020
T
| |
ASH1L
| Leuven2_60307063 | chr1: 155307459-155307459 | G | A | exonic | | Unknown | stopgain | NM_018489 | c.C8887T | p.R2963X | 52.0 | 8.239E-5 | Wang2020
T
| |
ASH1L
| Iowa_194_2_a.2.1 | chr1: 155313212-155313212 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.G8186A | p.R2729H | 35.0 | - | Wang2020
T
| |
ASH1L
| M23104 | chr1: 155447834-155447834 | A | C | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.T4827G | p.S1609R | 21.2 | 8.241E-6 | Guo2018
T
Wang2016
T
| |
ASH1L
| M13309 | chr1: 155327420-155327420 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.C6916T | p.R2306W | 21.7 | 6.59E-5 | Guo2018
T
Wang2016
T
| |
ASH1L
| Leuven2_61190913 | chr1: 155327420-155327420 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.C6916T | p.R2306W | 21.7 | 6.59E-5 | Wang2020
T
| |
ASH1L
| 13678.p1 | chr1: 155340680-155340680 | C | A | exonic | | De novo | stopgain | NM_018489 | c.G6427T | p.E2143X | 52.0 | - | Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Krupp2017
E
Satterstrom2020
E
Trost2022
G
Wang2020
T
Wilfert2021
G
Zhou2022
GE
| |
ASH1L
| 2-1365-003 | chr1: 155343838-155343838 | G | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2016
G
Yuen2017
G
| |
ASH1L
| M12425 | chr1: 155449669-155449669 | A | C | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.T2992G | p.L998V | 14.2 | 1.0E-4 | Guo2018
T
Wang2016
T
| |
ASH1L
| M26870 | chr1: 155448058-155448058 | G | A | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.C4603T | p.R1535C | 17.27 | 6.589E-5 | Guo2018
T
Wang2016
T
| |
ASH1L
| 11282.p1 |
Complex Event; expand row to view variants | | De novo | frameshift insertion | NM_018489 NM_018489 | c.7767_7768insCAAG c.7766_7767insCAAG | p.D2590fs p.K2589fs | - | - | Dong2014
E
Ji2016
E
Kosmicki2017
E
Krumm2015
E
Lowther2023
G
Satterstrom2020
E
Wang2020
T
Wilfert2021
G
Willsey2013
E
Zhou2022
GE
| |
ASH1L
| M16163 | chr1: 155451028-155451028 | A | G | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.T1633C | p.S545P | 17.02 | 4.121E-5 | Wang2016
T
| |
ASH1L
| Leuven_284743 | chr1: 155307459-155307459 | G | A | exonic | | Unknown | stopgain | NM_018489 | c.C8887T | p.R2963X | 52.0 | 8.239E-5 | Wang2020
T
| |
ASH1L
| 2-0309-005 | chr1: 155440695-155440695 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
ASH1L
| 08C76677 | chr1: 155429592-155429592 | T | TG | exonic | | De novo | frameshift insertion | NM_018489 | c.5081dupC | p.S1694fs | - | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
ASH1L
| GX0008.p1 | chr1: 155448109-155448109 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.A4552G | p.R1518G | 14.52 | 2.471E-5 | Guo2018
T
| |
ASH1L
| HN0095.p1 | chr1: 155448078-155448078 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.A4583G | p.Y1528C | 18.01 | 8.237E-5 | Guo2018
T
| |
ASH1L
| M26870 | chr1: 155408629-155408629 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.G5317T | p.D1773Y | 18.11 | - | Wang2016
T
| |
ASH1L
| GX0271.p1 | chr1: 155449621-155449621 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.G3040A | p.V1014M | 15.86 | 8.275E-6 | Guo2018
T
| |
ASH1L
| HN0070.p1 | chr1: 155448565-155448565 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.A4096G | p.M1366V | 6.549 | - | Guo2018
T
| |
ASH1L
| M8118 | chr1: 155451888-155451888 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.G773A | p.G258D | 12.67 | - | Wang2016
T
| |
ASH1L
| GX0290.p1 | chr1: 155327116-155327116 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.A7046G | p.N2349S | 22.5 | 1.648E-5 | Guo2018
T
| |
ASH1L
| GX0130.p1 | chr1: 155308042-155308042 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.C8641T | p.R2881W | 12.24 | 4.942E-5 | Guo2018
T
| |
ASH1L
| Bar2024:24 | chr1: 155448890-155448890 | A | C | exonic | | Inherited | nonsynonymous SNV | NM_018489 | c.T3771G | p.H1257Q | 13.01 | - | Bar2024
G
| |
ASH1L
| M19690 | chr1: 155451197-155451197 | A | C | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.T1464G | p.I488M | 11.05 | - | Wang2016
T
| |
ASH1L
| Wright2024:Par1376 | chr1: 155451313-155451313 | G | A | exonic | | De novo | stopgain | NM_018489 | c.C1348T | p.Q450X | 39.0 | - | Wright2024
E
| |
ASH1L
| SP0157511 | chr1: 155322667-155322667 | A | G | intronic | | De novo | | | | | - | - | Tan2024
GE
Tan2024
GE
| |
ASH1L
| SP0012778 | chr1: 155348371-155348371 | C | T | intronic | | De novo | | | | | - | - | Tan2024
GE
Tan2024
GE
| |
ASH1L
| GX0329.p1 | chr1: 155450742-155450742 | T | C | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.A1919G | p.H640R | 13.44 | - | Guo2018
T
| |
ASH1L
| SP0149884 | chr1: 155410303-155410303 | G | A | intronic | | De novo | | | | | - | - | Tan2024
GE
Tan2024
GE
| |
ASH1L
| HN0036.p1 | chr1: 155450475-155450475 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.G2186A | p.R729Q | 12.87 | 3.313E-5 | Guo2018
T
| |
ASH1L
| 05C48774 | chr1: 155385712-155385712 | A | C | exonic | | De novo | nonsynonymous SNV | NM_018489 | c.T5831G | p.F1944C | 20.1 | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
ASH1L
| AU3874301 |
Complex Event; expand row to view variants | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
ASH1L
| 1-0108-004 | chr1: 155307459-155307459 | G | A | exonic | | De novo | stopgain | NM_018489 | c.C8887T | p.R2963X | 52.0 | 8.239E-5 | Wang2020
T
| |
ASH1L
| 1-0864-003 | chr1: 155353051-155353052 | TA | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| 1-0014-003 | chr1: 155451143-155451145 | GAA | G | exonic | | De novo | frameshift deletion | NM_018489 | c.1516_1517del | p.F506fs | - | - | Wang2020
T
| |
ASH1L
| SP0151049 | chr1: 155313369-155313370 | GA | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| 3-0346-000 | chr1: 155356993-155356993 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| AU3946302 | chr1: 155307459-155307459 | G | A | exonic | | De novo | stopgain | NM_018489 | c.C8887T | p.R2963X | 52.0 | 8.239E-5 | Wang2020
T
| |
ASH1L
| 3-0703-000 | chr1: 155353388-155353388 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| GX0392.p1 | chr1: 155311845-155311845 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.G8342A | p.R2781Q | 36.0 | - | Guo2018
T
| |
ASH1L
| AU2622301 | chr1: 155421687-155421687 | T | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| 1-0188-003 | chr1: 155414598-155414598 | C | TG | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| 5-0072-003 | chr1: 155438055-155438055 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| M20709 | chr1: 155491090-155491090 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.C221T | p.S74L | 35.0 | 8.239E-6 | Wang2016
T
| |
ASH1L
| MT_181.4 | chr1: 155430685-155430685 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| MSSNG00021-003 | chr1: 155393176-155393176 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| SP0155539 | chr1: 155365233-155365233 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| 7-0438-003 | chr1: 155399408-155399408 | G | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| 7-0438-003 | chr1: 155397526-155397526 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| SanDiego_00045-B3L5J | chr1: 155317652-155317652 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.G7598A | p.R2533H | 35.0 | 1.0E-4 | Wang2020
T
| |
ASH1L
| REACH000319 | chr1: 155520309-155520309 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| SanDiego_00597-N8S6Q | chr1: 155317646-155317646 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.G7604A | p.R2535Q | 36.0 | 7.413E-5 | Wang2020
T
| |
ASH1L
| REACH000323 | chr1: 155514028-155514028 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| AU4392302 | chr1: 155343712-155343712 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
ASH1L
| 7-0135-003 | chr1: 155463502-155463502 | T | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| GX0217.p1 | chr1: 155408202-155408202 | T | C | exonic | | De novo | nonsynonymous SNV | NM_018489 | c.A5744G | p.K1915R | 21.6 | 8.318E-6 | Guo2018
T
| |
ASH1L
| AU055603 | chr1: 155444309-155444309 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| Leuven2_83578112 | chr1: 155408499-155408499 | A | AT | exonic | | Unknown | frameshift insertion | NM_018489 | c.5446dupA | p.I1816fs | - | - | Wang2020
T
| |
ASH1L
| 7-0402-003 | chr1: 155474046-155474046 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| Leuven_175654 | chr1: 155348156-155348157 | AG | A | exonic | | Unknown | frameshift deletion | NM_018489 | c.6247delC | p.L2083fs | - | - | Wang2020
T
| |
ASH1L
| 10-1104-004 | chr1: 155464423-155464423 | T | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ASH1L
| M17685 | chr1: 155448115-155448115 | G | A | exonic | | Paternal, Unknown | nonsynonymous SNV | NM_018489 | c.C4546T | p.R1516C | 19.09 | - | Guo2018
T
Stessman2017
T
Wang2016
T
| |
ASH1L
| M23185 | chr1: 155349842-155349842 | G | C | exonic | | Paternal, Unknown | nonsynonymous SNV | NM_018489 | c.C6169G | p.H2057D | 27.1 | - | Guo2018
T
Stessman2017
T
Wang2016
T
| |
ASH1L
| ACGC_M02793 | chr1: 155348166-155348166 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.G6238A | p.V2080I | 35.0 | 6.589E-5 | Wang2020
T
| |
ASH1L
| ACGC_M20837 | chr1: 155348166-155348166 | C | T | exonic | | De novo | nonsynonymous SNV | NM_018489 | c.G6238A | p.V2080I | 35.0 | 6.589E-5 | Wang2020
T
| |
ASH1L
| M20632 | chr1: 155448078-155448078 | T | C | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.A4583G | p.Y1528C | 18.01 | 8.237E-5 | Guo2018
T
Wang2016
T
| |
ASH1L
| M23104 | chr1: 155451147-155451147 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.G1514A | p.S505N | 11.07 | - | Guo2018
T
Wang2016
T
| |
ASH1L
| SF0062383.p1 | chr1: 155324288-155324288 | G | A | exonic | | | stopgain | NM_018489 | c.C7189T | p.R2397X | 51.0 | - | Wang2020
T
| |
ASH1L
| M17643 | chr1: 155448300-155448300 | G | C | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.C4361G | p.T1454R | 17.07 | 3.0E-4 | Wang2016
T
| |
ASH1L
| M17668 | chr1: 155327441-155327441 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.G6895A | p.A2299T | 9.005 | 8.237E-6 | Guo2018
T
Wang2016
T
| |
ASH1L
| SF0104732.p1 | chr1: 155317647-155317647 | G | A | exonic | | | stopgain | NM_018489 | c.C7603T | p.R2535X | 52.0 | - | Wang2020
T
| |
ASH1L
| M27857 | chr1: 155490913-155490913 | T | C | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.A398G | p.N133S | 19.18 | - | Guo2018
T
Wang2016
T
| |
ASH1L
| Wright2024:Par1028 | chr1: 155449094-155449094 | A | AA | exonic | | De novo | frameshift insertion | NM_018489 | c.3567dupT | p.S1189fs | - | - | Wright2024
E
| |
ASH1L
| AU4067301 | chr1: 155324744-155324744 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
ASH1L
| ACGC_M27787 | chr1: 155348172-155348172 | C | A | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.G6232T | p.V2078F | 35.0 | - | Wang2020
T
| |
ASH1L
| P2S8Z | chr1: 155448057-155448057 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.G4604T | p.R1535L | 16.65 | 8.237E-6 | Stessman2017
T
| |
ASH1L
| ACGC_GX0392.p1 | chr1: 155311845-155311845 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.G8342A | p.R2781Q | 36.0 | - | Wang2020
T
| |
ASH1L
| SF0097307.p1 | chr1: 155449093-155449093 | C | CA | exonic | | | stopgain | NM_018489 | c.3567dupT | p.E1190_S1191delinsX | - | - | Wang2020
T
| |
ASH1L
| SF0030168.p1 | chr1: 155448617-155448622 | CTTTTT | C | exonic | | | frameshift deletion | NM_018489 | c.4039_4043del | p.K1347fs | - | - | Wang2020
T
| |
ASH1L
| SF0074229.p1 | chr1: 155451739-155451739 | G | GT | exonic | | | frameshift insertion | NM_018489 | c.921dupA | p.L308fs | - | - | Wang2020
T
| |
ASH1L
| SF0139640.p1 | chr1: 155451313-155451313 | G | A | exonic | | | stopgain | NM_018489 | c.C1348T | p.Q450X | 39.0 | - | Wang2020
T
| |
ASH1L
| M17563 | chr1: 155448076-155448076 | T | G | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.A4585C | p.K1529Q | 19.84 | - | Guo2018
T
Wang2016
T
| |
ASH1L
| Wright2024:Par1096 | chr1: 155317647-155317647 | G | A | exonic | | De novo | stopgain | NM_018489 | c.C7603T | p.R2535X | 52.0 | - | Wright2024
E
| |
ASH1L
| M19723 | chr1: 155308057-155308057 | G | C | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.C8626G | p.L2876V | 11.48 | - | Guo2018
T
Wang2016
T
| |
ASH1L
| 1-0627-003 | chr1: 155377184-155377184 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
ASH1L
| M17697 | chr1: 155491173-155491173 | T | G | exonic | | Paternal | nonsynonymous SNV | NM_018489 | c.A138C | p.E46D | 20.7 | - | Guo2018
T
Wang2016
T
| |
ASH1L
| Wright2024:Par1105 | chr1: 155451058-155451058 | C | A | exonic | | De novo | stopgain | NM_018489 | c.G1603T | p.G535X | 41.0 | - | Wright2024
E
| |
ASH1L
| M03973 | chr1: 155491090-155491090 | G | A | exonic | | De novo | nonsynonymous SNV | NM_018489 | c.C221T | p.S74L | 35.0 | 8.239E-6 | Stessman2017
T
Wang2016
T
| |
ASH1L
| SP0252587 | chr1: 155449146-155449146 | G | A | exonic | | De novo | nonsynonymous SNV | NM_018489 | c.C3515T | p.S1172L | 18.5 | 1.649E-5 | Trost2022
G
Zhou2022
GE
| |
ASH1L
| AU1995302 | chr1: 155423219-155423219 | T | C | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
ASH1L
| IBS-ASD-19623-blood-wgs-ILLUMINA | chr1: 155476800-155476800 | G | A | intronic | | De novo | | | | | - | - | Kim2024
G
| |
ASH1L
| 3-0140-000 | chr1: 155324288-155324288 | G | A | exonic | | De novo | stopgain | NM_018489 | c.C7189T | p.R2397X | 51.0 | - | Chan2022
G
Tammimies2015
E
Tammimies2015
E
Trost2022
G
Wang2020
T
Yuen2017
G
Zhou2022
GE
| |
ASH1L
| M32295 | chr1: 155451759-155451759 | T | C | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.A902G | p.N301S | 9.154 | - | Guo2018
T
| |
ASH1L
| IBS-ASD-29963-blood-wgs-ILLUMINA | chr1: 155448617-155448622 | CTTTTT | C | exonic | | De novo | frameshift deletion | NM_018489 | c.4039_4043del | p.K1347fs | - | - | Kim2024
G
| |
ASH1L
| IBS-ASD-9923-blood-wgs-ILLUMINA | chr1: 155445465-155445465 | T | C | intronic | | De novo | | | | | - | - | Kim2024
G
| |
ASH1L
| IBS-ASD-13084-blood-wgs-ILLUMINA | chr1: 155309468-155309468 | T | C | intronic | | De novo | | | | | - | - | Kim2024
G
| |
ASH1L
| 175654 | chr1: 155348157-155348158 | GG | G | exonic | | Inherited | frameshift deletion | NM_018489 | c.6246delC | p.P2082fs | - | - | Stessman2017
T
| |
ASH1L
| GX0274.p1 | chr1: 155449633-155449633 | T | C | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.A3028G | p.N1010D | 14.17 | - | Guo2018
T
| |
ASH1L
| Wright2024:Par685 | chr1: 155324288-155324288 | G | A | exonic | | De novo | stopgain | NM_018489 | c.C7189T | p.R2397X | 51.0 | - | Wright2024
E
| |
ASH1L
| 13678_p1 | chr1: 155340680-155340680 | C | A | exonic | | De novo | stopgain | NM_018489 | c.G6427T | p.E2143X | 52.0 | - | Fu2022
E
| |
ASH1L
| SSC05325 | chr1: 155447685-155447685 | G | T | exonic | | De novo | nonsynonymous SNV | NM_018489 | c.C4976A | p.T1659N | 9.019 | - | Fu2022
E
| |
ASH1L
| SD0077.p1 | chr1: 155408676-155408676 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.G5270A | p.R1757Q | 17.48 | 8.236E-6 | Guo2018
T
| |
ASH1L
| GX0538.p1 | chr1: 155324419-155324419 | T | G | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.A7058C | p.N2353T | 18.74 | 4.156E-5 | Guo2018
T
| |
ASH1L
| HEN0281.p1 | chr1: 155447943-155447943 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.C4718T | p.T1573I | 14.63 | 3.297E-5 | Guo2018
T
| |
ASH1L
| SX0005.p1 | chr1: 155447814-155447814 | A | G | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.T4847C | p.V1616A | 16.74 | - | Guo2018
T
| |
ASH1L
| HN0148.p1 | chr1: 155309150-155309150 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.G8470A | p.V2824I | 19.41 | 2.471E-5 | Guo2018
T
| |
ASH1L
| M02793 | chr1: 155348166-155348166 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.G6238A | p.V2080I | 35.0 | 6.589E-5 | Wang2016
T
| |
ASH1L
| AU1698302 | chr1: 155318429-155318429 | C | G | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
ASH1L
| HEN0334.p1 | chr1: 155452104-155452104 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.C557T | p.A186V | 13.53 | - | Guo2018
T
| |
ASH1L
| SD0073.p1 | chr1: 155450469-155450469 | G | C | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.C2192G | p.P731R | 12.85 | 8.28E-6 | Guo2018
T
| |
ASH1L
| SD0008.p1 | chr1: 155491136-155491136 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.G175A | p.E59K | 17.54 | - | Guo2018
T
| |
ASH1L
| DEASD_0085_001 | chr1: 155448915-155448917 | TTA | T | exonic | | Unknown, De novo | frameshift deletion | NM_018489 | c.3744_3745del | p.H1248fs | - | - | DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Satterstrom2020
E
Trost2022
G
Wang2020
T
Zhou2022
GE
| |
ASH1L
| 09C84843 | chr1: 155451844-155451844 | T | A | exonic | | De novo | stopgain | NM_018489 | c.A817T | p.K273X | 39.0 | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
ASH1L
| M20600 | chr1: 155451250-155451250 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.C1411T | p.R471W | 15.99 | 3.312E-5 | Guo2018
T
Wang2016
T
| |
ASH1L
| Wright2024:Par317 | chr1: 155448618-155448623 | TTTTTT | T | exonic | | De novo | frameshift deletion | NM_018489 | c.4038_4042del | p.L1346fs | - | - | Wright2024
E
| |
ASH1L
| M15039 | chr1: 155316175-155316175 | C | G | exonic | | Inherited, Paternal | nonsynonymous SNV | NM_018489 | c.G7889C | p.R2630T | 36.0 | - | Guo2018
T
Stessman2017
T
Wang2016
T
| |
ASH1L
| M16095 | chr1: 155330150-155330150 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_018489 | c.C6737T | p.P2246L | 15.53 | 7.421E-5 | Guo2018
T
Wang2016
T
| |
ASH1L
| SAGE_BK_585.01 | chr1: 155317505-155317505 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_018489 | c.G7745A | p.R2582H | 36.0 | 8.236E-6 | Wang2020
T
| |
ASH1L
| Zhang2023:ASD0046 | chr1: 155308087-155308088 | GA | G | exonic | | De novo | frameshift deletion | NM_018489 | c.8595delT | p.S2865fs | - | - | Zhang2023
G
| |
ASH1L
| SAGE_304.03 | chr1: 155490889-155490889 | A | G | splicing | | Unknown | splicing | | | | 18.41 | - | Wang2020
T
| |