ZBTB45
| SSC10729 | chr19: 59028431-59028433 | CAG | C | exonic | | De novo | frameshift deletion | NM_001316978 NM_001316979 NM_001316980 NM_001316981 NM_001316982 NM_032792 | c.608_609del c.608_609del c.608_609del c.608_609del c.608_609del c.608_609del | p.P203fs p.P203fs p.P203fs p.P203fs p.P203fs p.P203fs | - | - | Fu2022
E
Trost2022
G
| |
ZBTB45
| 11511.p1 | chr19: 59028486-59028489 | TGGG | T | exonic | | De novo | nonframeshift deletion | NM_001316978 NM_001316979 NM_001316980 NM_001316981 NM_001316982 NM_032792 | c.552_554del c.552_554del c.552_554del c.552_554del c.552_554del c.552_554del | p.184_185del p.184_185del p.184_185del p.184_185del p.184_185del p.184_185del | - | - | Iossifov2014
E
Kosmicki2017
E
Satterstrom2020
E
Zhou2022
GE
| |
ZBTB45
| AU083003 | chr19: 59025465-59025465 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_001316978 NM_001316979 NM_001316980 NM_001316981 NM_001316982 NM_032792 | c.C1492T c.C1492T c.C1492T c.C1492T c.C1492T c.C1492T | p.R498C p.R498C p.R498C p.R498C p.R498C p.R498C | 19.1 | - | Stessman2017
T
| |
ZBTB45
| 1-0755-003 | chr19: 59034053-59034053 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
ZBTB45
| 14231.p1 | chr19: 59028431-59028433 | CAG | C | exonic | | De novo | frameshift deletion | NM_001316978 NM_001316979 NM_001316980 NM_001316981 NM_001316982 NM_032792 | c.608_609del c.608_609del c.608_609del c.608_609del c.608_609del c.608_609del | p.P203fs p.P203fs p.P203fs p.P203fs p.P203fs p.P203fs | - | - | Ji2016
E
Krumm2015
E
Satterstrom2020
E
Zhou2022
GE
| |
ZBTB45
| SP0059140 | chr19: 59028665-59028665 | G | A | exonic | | De novo | stopgain | NM_001316978 NM_001316979 NM_001316980 NM_001316981 NM_001316982 NM_032792 | c.C376T c.C376T c.C376T c.C376T c.C376T c.C376T | p.R126X p.R126X p.R126X p.R126X p.R126X p.R126X | 19.54 | 9.935E-6 | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
ZBTB45
| SP0057248 | chr19: 59028593-59028593 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001316978 NM_001316979 NM_001316980 NM_001316981 NM_001316982 NM_032792 | c.C448T c.C448T c.C448T c.C448T c.C448T c.C448T | p.R150C p.R150C p.R150C p.R150C p.R150C p.R150C | 16.65 | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
ZBTB45
| SP0108603 | chr19: 59025444-59025444 | G | T | exonic | | De novo | nonsynonymous SNV | NM_001316978 NM_001316979 NM_001316980 NM_001316981 NM_001316982 NM_032792 | c.C1513A c.C1513A c.C1513A c.C1513A c.C1513A c.C1513A | p.L505M p.L505M p.L505M p.L505M p.L505M p.L505M | 12.95 | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
ZBTB45
| 3-0438-000 | chr19: 59050453-59050453 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ZBTB45
| 31708 | chr19: 59028486-59028489 | TGGG | T | exonic | | De novo | nonframeshift deletion | NM_001316978 NM_001316979 NM_001316980 NM_001316981 NM_001316982 NM_032792 | c.552_554del c.552_554del c.552_554del c.552_554del c.552_554del c.552_554del | p.184_185del p.184_185del p.184_185del p.184_185del p.184_185del p.184_185del | - | - | Trost2022
G
| |
ZBTB45
| 1-0214-003 | chr19: 59029098-59029098 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |