CTBP2
| PN400498 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400498 | chr10: 126683099-126683099 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2339T c.C719T c.C719T c.C719T c.C719T | p.S780F p.S240F p.S240F p.S240F p.S240F | 24.3 | - | Leblond2019
E
| |
CTBP2
| PN400170 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400498 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400170 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400498 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400410 | chr10: 126683099-126683099 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2339T c.C719T c.C719T c.C719T c.C719T | p.S780F p.S240F p.S240F p.S240F p.S240F | 24.3 | - | Leblond2019
E
| |
CTBP2
| PN400410 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400410 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400323 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400323 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400323 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400410 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400260 | chr10: 126683099-126683099 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2339T c.C719T c.C719T c.C719T c.C719T | p.S780F p.S240F p.S240F p.S240F p.S240F | 24.3 | - | Leblond2019
E
| |
CTBP2
| PN400260 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400499 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400260 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400499 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400325 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400171 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| PN400551 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400171 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| PN400551 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400171 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400171 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400551 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400261 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400412 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400501 | chr10: 126686553-126686553 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2165T c.C545T c.C545T c.C545T c.C545T | p.T722M p.T182M p.T182M p.T182M p.T182M | 27.2 | 1.705E-5 | Leblond2019
E
| |
CTBP2
| SP0104865 | chr10: 126694391-126694391 | G | A | intronic | | De novo | | | | | - | 8.903E-6 | Fu2022
E
| |
CTBP2
| SP0125512 | chr10: 126683307-126683307 | T | TTCTGAGCCCGC | intronic | | De novo | | | | | - | - | Fu2022
E
| |
CTBP2
| PN400501 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| PN400501 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| SP0058451 | chr10: 126681824-126681824 | G | A | exonic | | De novo | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2606T c.C986T c.C986T c.C986T c.C986T | p.A869V p.A329V p.A329V p.A329V p.A329V | 16.54 | - | Fu2022
E
| |
CTBP2
| PN400412 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| SP0103889 | chr10: 126716443-126716443 | C | T | UTR5 | | De novo | | | | | - | - | Fu2022
E
| |
CTBP2
| SP0033756 | chr10: 126715530-126715530 | T | C | exonic | | De novo | nonsynonymous SNV | NM_022802 | c.A799G | p.K267E | 8.058 | - | Fu2022
E
| |
CTBP2
| PN400326 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400554 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| PN400554 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| PN400178 | chr10: 126683099-126683099 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2339T c.C719T c.C719T c.C719T c.C719T | p.S780F p.S240F p.S240F p.S240F p.S240F | 24.3 | - | Leblond2019
E
| |
CTBP2
| PN400554 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400326 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400554 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400501 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400501 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400554 | chr10: 126692061-126692061 | C | CAAATT | exonic | | Unknown | frameshift insertion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1678_1679insAATTT c.58_59insAATTT c.58_59insAATTT c.58_59insAATTT c.58_59insAATTT | p.S560fs p.G20fs p.G20fs p.G20fs p.G20fs | - | - | Leblond2019
E
| |
CTBP2
| PN400178 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400554 | chr10: 126692059-126692059 | T | TTCCTC | exonic | | Unknown | frameshift insertion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1680_1681insGAGGA c.60_61insGAGGA c.60_61insGAGGA c.60_61insGAGGA c.60_61insGAGGA | p.I561fs p.I21fs p.I21fs p.I21fs p.I21fs | - | - | Leblond2019
E
| |
CTBP2
| PN400262 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400262 | chr10: 126683099-126683099 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2339T c.C719T c.C719T c.C719T c.C719T | p.S780F p.S240F p.S240F p.S240F p.S240F | 24.3 | - | Leblond2019
E
| |
CTBP2
| PN400262 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400415 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400415 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| PN400330 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400503 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400415 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400503 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400415 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| PN400556 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400556 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400330 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400179 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400416 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400416 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400179 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| PN400179 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400179 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| PN400264 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400504 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400264 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400504 | chr10: 126683099-126683099 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2339T c.C719T c.C719T c.C719T c.C719T | p.S780F p.S240F p.S240F p.S240F p.S240F | 24.3 | - | Leblond2019
E
| |
CTBP2
| 1-0303-003 | chr10: 126890062-126890062 | C | T | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
CTBP2
| PN400264 | chr10: 126692061-126692061 | C | CAAATT | exonic | | Unknown | frameshift insertion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1678_1679insAATTT c.58_59insAATTT c.58_59insAATTT c.58_59insAATTT c.58_59insAATTT | p.S560fs p.G20fs p.G20fs p.G20fs p.G20fs | - | - | Leblond2019
E
| |
CTBP2
| PN400264 | chr10: 126692059-126692059 | T | TTCCTC | exonic | | Unknown | frameshift insertion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1680_1681insGAGGA c.60_61insGAGGA c.60_61insGAGGA c.60_61insGAGGA c.60_61insGAGGA | p.I561fs p.I21fs p.I21fs p.I21fs p.I21fs | - | - | Leblond2019
E
| |
CTBP2
| PN400504 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400264 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| PN400264 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| PN400557 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| PN400557 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400557 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| PN400332 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400417 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400505 | chr10: 126683099-126683099 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2339T c.C719T c.C719T c.C719T c.C719T | p.S780F p.S240F p.S240F p.S240F p.S240F | 24.3 | - | Leblond2019
E
| |
CTBP2
| PN400417 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| 2-1297-003 | chr10: 126729427-126729427 | C | T | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
CTBP2
| 7-0254-004 | chr10: 127114733-127114733 | C | A | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
CTBP2
| PN400505 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| 7-0254-004 | chr10: 127114737-127114737 | G | T | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
CTBP2
| PN400505 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400182 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| PN400417 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400182 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| PN400182 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400417 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| PN400182 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400417 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| PN400341 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400560 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400560 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400266 | chr10: 126683099-126683099 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2339T c.C719T c.C719T c.C719T c.C719T | p.S780F p.S240F p.S240F p.S240F p.S240F | 24.3 | - | Leblond2019
E
| |
CTBP2
| PN400266 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400341 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400266 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400560 | chr10: 126692061-126692061 | C | CAAATT | exonic | | Unknown | frameshift insertion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1678_1679insAATTT c.58_59insAATTT c.58_59insAATTT c.58_59insAATTT c.58_59insAATTT | p.S560fs p.G20fs p.G20fs p.G20fs p.G20fs | - | - | Leblond2019
E
| |
CTBP2
| PN400560 | chr10: 126692059-126692059 | T | TTCCTC | exonic | | Unknown | frameshift insertion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1680_1681insGAGGA c.60_61insGAGGA c.60_61insGAGGA c.60_61insGAGGA c.60_61insGAGGA | p.I561fs p.I21fs p.I21fs p.I21fs p.I21fs | - | - | Leblond2019
E
| |
CTBP2
| PN400186 | chr10: 126683099-126683099 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2339T c.C719T c.C719T c.C719T c.C719T | p.S780F p.S240F p.S240F p.S240F p.S240F | 24.3 | - | Leblond2019
E
| |
CTBP2
| AU3846303 | chr10: 126676065-126676065 | T | C | downstream | | De novo | | | | | - | - | Yuen2017
G
| |
CTBP2
| PN400100 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400100 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400186 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| PN400186 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| PN400186 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400186 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400343 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| PN400267 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400424 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400424 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400267 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400506 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400267 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400506 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400562 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400343 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400343 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| PN400343 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400102 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400190 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400102 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400507 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400507 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400431 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400564 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400564 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400272 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400272 | chr10: 126683099-126683099 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2339T c.C719T c.C719T c.C719T c.C719T | p.S780F p.S240F p.S240F p.S240F p.S240F | 24.3 | - | Leblond2019
E
| |
CTBP2
| PN400272 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400347 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| PN400347 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| PN400347 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400347 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400103 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400103 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| AU4056302 | chr10: 127249951-127249951 | C | G | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
CTBP2
| PN400508 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| 3-0438-000 | chr10: 126977727-126977727 | C | A | intergenic | | De novo | | | | | - | - | Yuen2016
G
| |
CTBP2
| PN400508 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400273 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| PN400565 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400273 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| PN400565 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400434 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400434 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400104 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400104 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| 2-1107-003 | chr10: 127110084-127110097 | CTGTGTGTGTGTGT | CTGTGTGTGTGT | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
CTBP2
| PN400104 | chr10: 126692050-126692050 | G | A | exonic | | Unknown | stopgain | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C1690T c.C70T c.C70T c.C70T c.C70T | p.Q564X p.Q24X p.Q24X p.Q24X p.Q24X | 38.0 | - | Leblond2019
E
| |
CTBP2
| PN400273 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400273 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400565 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400195 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400348 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400348 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400439 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400439 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400439 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400277 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400277 | chr10: 126683099-126683099 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2339T c.C719T c.C719T c.C719T c.C719T | p.S780F p.S240F p.S240F p.S240F p.S240F | 24.3 | - | Leblond2019
E
| |
CTBP2
| PN400512 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400568 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400568 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400512 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400108 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400108 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| AU076508 | chr10: 126681770-126681770 | C | T | splicing | | De novo | splicing | | | | 22.1 | - | Yuen2017
G
| |
CTBP2
| PN400108 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| PN400349 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400349 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400349 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400575 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400514 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400575 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400203 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400441 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400203 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400279 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400514 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| PN400514 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| PN400514 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400514 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| 1-0777-003 | chr10: 126963764-126963764 | A | G | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
CTBP2
| PN400111 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400350 | chr10: 126683225-126683225 | C | G | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2213C c.G593C c.G593C c.G593C c.G593C | p.R738P p.R198P p.R198P p.R198P p.R198P | 34.0 | - | Leblond2019
E
| |
CTBP2
| PN400350 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400111 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400111 | chr10: 126683099-126683099 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2339T c.C719T c.C719T c.C719T c.C719T | p.S780F p.S240F p.S240F p.S240F p.S240F | 24.3 | - | Leblond2019
E
| |
CTBP2
| PN400443 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| 2-1480-003 | chr10: 126887450-126887450 | C | T | intergenic | | De novo | | | | | - | - | Yuen2016
G
Yuen2017
G
| |
CTBP2
| PN400443 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| PN400443 | chr10: 126683225-126683225 | C | G | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2213C c.G593C c.G593C c.G593C c.G593C | p.R738P p.R198P p.R198P p.R198P p.R198P | 34.0 | - | Leblond2019
E
| |
CTBP2
| PN400350 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400350 | chr10: 126683235-126683235 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2203T c.G583T c.G583T c.G583T c.G583T | p.V735F p.V195F p.V195F p.V195F p.V195F | 25.5 | - | Leblond2019
E
| |
CTBP2
| PN400576 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400205 | chr10: 126683099-126683099 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2339T c.C719T c.C719T c.C719T c.C719T | p.S780F p.S240F p.S240F p.S240F p.S240F | 24.3 | - | Leblond2019
E
| |
CTBP2
| PN400576 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400576 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400443 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400443 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| A6 | chr10: 126932420-126932420 | A | C | intergenic | | De novo | | | | | - | - | Wu2018
G
| |
CTBP2
| PN400443 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400515 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
| PN400515 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400515 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400515 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| PN400205 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400280 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400205 | chr10: 126683190-126683190 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2248T c.G628T c.G628T c.G628T c.G628T | p.D750Y p.D210Y p.D210Y p.D210Y p.D210Y | 28.2 | - | Leblond2019
E
| |
CTBP2
| PN400280 | chr10: 126686659-126686659 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C2059T c.C439T c.C439T c.C439T c.C439T | p.R687W p.R147W p.R147W p.R147W p.R147W | 24.9 | - | Leblond2019
E
| |
CTBP2
| PN400576 | chr10: 126692050-126692050 | G | A | exonic | | Unknown | stopgain | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.C1690T c.C70T c.C70T c.C70T c.C70T | p.Q564X p.Q24X p.Q24X p.Q24X p.Q24X | 38.0 | - | Leblond2019
E
| |
CTBP2
| PN400205 | chr10: 126692022-126692023 | CG | C | exonic | | Unknown | frameshift deletion | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.1717delC c.97delC c.97delC c.97delC c.97delC | p.R573fs p.R33fs p.R33fs p.R33fs p.R33fs | - | - | Leblond2019
E
| |
CTBP2
| PN400352 | chr10: 126686577-126686577 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2141T c.G521T c.G521T c.G521T c.G521T | p.G714V p.G174V p.G174V p.G174V p.G174V | 32.0 | - | Leblond2019
E
| |
CTBP2
| PN400352 | chr10: 126686575-126686575 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_022802 NM_001083914 NM_001290214 NM_001290215 NM_001329 | c.G2143A c.G523A c.G523A c.G523A c.G523A | p.A715T p.A175T p.A175T p.A175T p.A175T | 35.0 | - | Leblond2019
E
| |
CTBP2
|