CACNA1A
| Sandoval-Talamantes2023:AUT221 | chr19: 13616924-13616924 | C | T | exonic | | | nonsynonymous SNV | NM_001127221 NM_001127222 | c.G115A c.G115A | p.G39S p.G39S | 18.85 | - | Sandoval-Talamantes2023
T
| |
CHD1
| Sandoval-Talamantes2023:AUT183 | chr5: 98239553-98239553 | C | G | exonic | | | nonsynonymous SNV | NM_001270 | c.G315C | p.Q105H | 15.65 | - | Sandoval-Talamantes2023
T
| |
CHD7
| Sandoval-Talamantes2023:AUT114 | chr8: 61748826-61748826 | T | C | exonic | | | nonsynonymous SNV | NM_017780 | c.T3973C | p.Y1325H | 23.3 | 5.065E-5 | Sandoval-Talamantes2023
T
| |
SCN2A
| Sandoval-Talamantes2023:AUT108 | chr2: 166246206-166246206 | G | A | exonic | | | nonsynonymous SNV | NM_001040143 NM_001040142 NM_021007 | c.G5890A c.G5890A c.G5890A | p.D1964N p.D1964N p.D1964N | 17.8 | - | Sandoval-Talamantes2023
T
| |
NBEAL1
| Sandoval-Talamantes2023:AUT99 | chr2: 203972789-203972790 | TG | T | exonic | | | frameshift deletion | NM_001114132 | c.1741delG | p.V581fs | - | - | Sandoval-Talamantes2023
T
| |
KCNJ11
| Sandoval-Talamantes2023:AUT99 | chr11: 17409314-17409314 | G | T | exonic | | | nonsynonymous SNV | NM_000525 NM_001166290 | c.C325A c.C64A | p.P109T p.P22T | 8.132 | 8.267E-6 | Sandoval-Talamantes2023
T
| |
MED13L
| Sandoval-Talamantes2023:AUT23 | chr12: 116460315-116460316 | AA | A | exonic | | | frameshift deletion | NM_015335 | c.570delT | p.Y190fs | - | - | Sandoval-Talamantes2023
T
| |
CHD2
| Sandoval-Talamantes2023:AUT195 | chr15: 93499873-93499873 | C | T | exonic | | | nonsynonymous SNV | NM_001271 | c.C1994T | p.P665L | 36.0 | 8.266E-6 | Sandoval-Talamantes2023
T
| |
SETD2
| Sandoval-Talamantes2023:AUT195 | chr3: 47098975-47098975 | T | C | exonic | | | nonsynonymous SNV | NM_014159 | c.A6299G | p.D2100G | 19.85 | - | Sandoval-Talamantes2023
T
| |
SCN2A
| Sandoval-Talamantes2023:AUT187 | chr2: 166201291-166201291 | A | C | exonic | | | nonsynonymous SNV | NM_001040143 NM_001040142 NM_021007 | c.A2789C c.A2789C c.A2789C | p.H930P p.H930P p.H930P | 24.6 | - | Sandoval-Talamantes2023
T
| |
CREBBP
| Sandoval-Talamantes2023:AUT157 | chr16: 3807860-3807860 | G | A | exonic | | | stopgain | NM_001079846 NM_004380 | c.C3445T c.C3559T | p.Q1149X p.Q1187X | 49.0 | - | Sandoval-Talamantes2023
T
| |
EEF1A2
| Sandoval-Talamantes2023:AUT149 | chr20: 62126300-62126300 | G | A | exonic | | | nonsynonymous SNV | NM_001958 | c.C479T | p.P160L | 23.7 | - | Sandoval-Talamantes2023
T
| |
CACNA1D
| Sandoval-Talamantes2023:AUT142 | chr3: 53834319-53834319 | G | A | exonic | | | nonsynonymous SNV | NM_001128839 NM_001128840 NM_000720 | c.G4922A c.G4967A c.G5027A | p.R1641H p.R1656H p.R1676H | 33.0 | - | Sandoval-Talamantes2023
T
| |
CACNA1A
| Sandoval-Talamantes2023:AUT117 | chr19: 13356069-13356069 | C | T | exonic | | | nonsynonymous SNV | NM_001127221 NM_001127222 | c.G4880A c.G4877A | p.R1627H p.R1626H | 12.98 | 4.984E-5 | Sandoval-Talamantes2023
T
| |
CHD7
| Sandoval-Talamantes2023:AUT115 | chr8: 61748826-61748826 | T | C | exonic | | | nonsynonymous SNV | NM_017780 | c.T3973C | p.Y1325H | 23.3 | 5.065E-5 | Sandoval-Talamantes2023
T
| |
KMT2D
| Sandoval-Talamantes2023:AUT171 | chr12: 49424177-49424177 | T | G | exonic | | | nonsynonymous SNV | NM_003482 | c.A13885C | p.T4629P | 12.74 | - | Sandoval-Talamantes2023
T
| |
CACNA1A
| Sandoval-Talamantes2023:AUT161 | chr19: 13320158-13320158 | C | T | exonic | | | nonsynonymous SNV | NM_001127221 NM_001127222 | c.G6497A c.G6494A | p.R2166H p.R2165H | 16.75 | 2.0E-4 | Sandoval-Talamantes2023
T
| |
ZEB2
| Sandoval-Talamantes2023:AUT152 | chr2: 145156985-145156985 | A | G | exonic | | | nonsynonymous SNV | NM_001171653 NM_014795 | c.T1697C c.T1769C | p.F566S p.F590S | 16.62 | - | Sandoval-Talamantes2023
T
| |
SPTBN1
| Sandoval-Talamantes2023:AUT152 | chr2: 54876139-54876139 | C | T | exonic | | | nonsynonymous SNV | NM_178313 NM_003128 | c.C4975T c.C5014T | p.R1659W p.R1672W | 23.2 | 3.433E-5 | Sandoval-Talamantes2023
T
| |
TCF20
| Sandoval-Talamantes2023:AUT147 | chr22: 42610858-42610858 | A | C | exonic | | | nonsynonymous SNV | NM_181492 NM_005650 | c.T454G c.T454G | p.Y152D p.Y152D | 17.93 | - | Sandoval-Talamantes2023
T
| |
CEP290
| Sandoval-Talamantes2023:AUT140 | chr12: 88508950-88508950 | G | A | exonic | | | nonsynonymous SNV | NM_025114 | c.C1834T | p.L612F | 23.1 | - | Sandoval-Talamantes2023
T
| |
NRXN1
| Sandoval-Talamantes2023:AUT120 | chr2: 51255335-51255335 | T | TGCT | exonic | | | nonframeshift insertion | NM_001135659 NM_004801 | c.76_77insAGC c.76_77insAGC | p.E26delinsEQ p.E26delinsEQ | - | - | Sandoval-Talamantes2023
T
| |
MED13
| Sandoval-Talamantes2023:AUT118 | chr17: 60140605-60140605 | G | A | exonic | | | nonsynonymous SNV | NM_005121 | c.C124T | p.P42S | 33.0 | 8.282E-6 | Sandoval-Talamantes2023
T
| |