NCOA3
| SP0157807 | chr20: 46262746-46262746 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
NCOA3
| 3-0621-000A | chr20: 46247070-46247075 | TTTAAG | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
NCOA3
| 2-1552-003 | chr20: 46237041-46237043 | CAA | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
NCOA3
| 1-0171-005 | chr20: 46138434-46138436 | TTG | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
NCOA3
| Wang2023:798 | chr20: 46268411-46268411 | T | C | exonic | | De novo | nonsynonymous SNV | NM_001174087 NM_001174088 NM_006534 NM_181659 | c.T2798C c.T2783C c.T2798C c.T2798C | p.M933T p.M928T p.M933T p.M933T | 2.556 | - | Wang2023
E
| |
NCOA3
| AU2310301 | chr20: 46224015-46224015 | T | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
NCOA3
| PN400556 | chr20: 46256365-46256365 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_001174087 NM_001174088 NM_006534 NM_181659 | c.G593A c.G593A c.G593A c.G593A | p.R198H p.R198H p.R198H p.R198H | 32.0 | 5.78E-5 | Leblond2019
E
| |
NCOA3
| 2-1644-003 | chr20: 46205301-46205302 | TG | AA | intronic | | De novo | | | | | - | - | Trost2022
G
| |
NCOA3
| MSSNG00385-003 | chr20: 46196067-46196067 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
NCOA3
| 7-0330-003 | chr20: 46169437-46169437 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
NCOA3
| 5-0071-003 | chr20: 46269624-46269624 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
NCOA3
| 1-1165-003 | chr20: 46156460-46156460 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
NCOA3
| SP0110433 | chr20: 46279919-46279919 | C | T | exonic | | De novo | nonsynonymous SNV | NM_001174087 NM_001174088 NM_006534 NM_181659 | c.C3842T c.C3818T c.C3833T c.C3845T | p.P1281L p.P1273L p.P1278L p.P1282L | 10.07 | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
NCOA3
| SP0040514 | chr20: 46252730-46252730 | T | TCA | exonic | | De novo | frameshift insertion | NM_001174087 NM_001174088 NM_006534 NM_181659 | c.159_160insCA c.159_160insCA c.159_160insCA c.159_160insCA | p.S53fs p.S53fs p.S53fs p.S53fs | - | - | Fu2022
E
| |
NCOA3
| ASDFI_1093 | chr20: 46282139-46282139 | G | T | intronic | | De novo | | | | | - | - | Satterstrom2020
E
Trost2022
G
| |
NCOA3
| SP0148553 | chr20: 46252760-46252760 | T | C | exonic | | De novo | synonymous SNV | NM_001174087 NM_001174088 NM_006534 NM_181659 | c.T189C c.T189C c.T189C c.T189C | p.N63N p.N63N p.N63N p.N63N | - | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
NCOA3
| SP0033846 | chr20: 46265292-46265292 | T | C | exonic | | De novo | nonsynonymous SNV | NM_001174087 NM_001174088 NM_006534 NM_181659 | c.T2162C c.T2192C c.T2162C c.T2162C | p.V721A p.V731A p.V721A p.V721A | 0.236 | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
NCOA3
| 4-0062-003 | chr20: 46265041-46265042 | GA | CT | exonic | | De novo | nonframeshift substitution | NM_001174087 NM_001174088 NM_006534 NM_181659 | c.1911_1912CT c.1941_1942CT c.1911_1912CT c.1911_1912CT | N/A N/A N/A N/A | - | - | Trost2022
G
| |
NCOA3
| AU0039303 | chr20: 46255992-46255992 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
NCOA3
| AU4239301 | chr20: 46182513-46182513 | G | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
NCOA3
| PN400579 | chr20: 46256365-46256365 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_001174087 NM_001174088 NM_006534 NM_181659 | c.G593A c.G593A c.G593A c.G593A | p.R198H p.R198H p.R198H p.R198H | 32.0 | 5.78E-5 | Leblond2019
E
| |
NCOA3
| 2-1266-003 | chr20: 46165011-46165011 | C | T | intronic | | De novo | | | | | - | - | Yuen2016
G
Yuen2017
G
| |
NCOA3
| 2-1153-003 | chr20: 46208257-46208257 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2016
G
Yuen2017
G
| |
NCOA3
| mAGRE4581 | chr20: 46268444-46268457 | ATTATAATACTTCT | A | exonic | | Paternal | frameshift deletion | NM_001174087 NM_001174088 NM_006534 NM_181659 | c.2832_2844del c.2817_2829del c.2832_2844del c.2832_2844del | p.D944fs p.D939fs p.D944fs p.D944fs | - | - | Cirnigliaro2023
G
| |
NCOA3
| mAGRE4580 | chr20: 46268444-46268457 | ATTATAATACTTCT | A | exonic | | Paternal | frameshift deletion | NM_001174087 NM_001174088 NM_006534 NM_181659 | c.2832_2844del c.2817_2829del c.2832_2844del c.2832_2844del | p.D944fs p.D939fs p.D944fs p.D944fs | - | - | Cirnigliaro2023
G
| |
NCOA3
| 1-0412-003 | chr20: 46248412-46248412 | T | TTGCCATTCA | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
NCOA3
| SP0023707 | chr20: 46281256-46281256 | G | A | exonic | | De novo | synonymous SNV | NM_001174087 NM_001174088 NM_006534 NM_181659 | c.G4050A c.G4026A c.G4041A c.G4053A | p.P1350P p.P1342P p.P1347P p.P1351P | - | 3.0E-4 | Trost2022
G
Zhou2022
GE
| |
NCOA3
| 4-0054-003 | chr20: 46146463-46146463 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
NCOA3
| PN400505 | chr20: 46256365-46256365 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_001174087 NM_001174088 NM_006534 NM_181659 | c.G593A c.G593A c.G593A c.G593A | p.R198H p.R198H p.R198H p.R198H | 32.0 | 5.78E-5 | Leblond2019
E
| |