CACNA1G
| 13069.p1 | chr17: 48657385-48657385 | G | T | intronic | | De novo | | | | | - | - | Turner2016
G
| |
CACNA1G
| Viggiano2022:48.3 | chr17: 48646652-48646652 | A | T | exonic | | Paternal | nonsynonymous SNV | NM_001256324 NM_001256325 NM_001256326 NM_001256327 NM_001256328 NM_001256329 NM_001256330 NM_001256331 NM_001256332 NM_001256333 NM_001256334 NM_001256359 NM_001256360 NM_001256361 NM_018896 NM_198376 NM_198377 NM_198378 NM_198379 NM_198380 NM_198382 NM_198383 NM_198384 NM_198385 NM_198386 NM_198387 NM_198388 NM_198396 | c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T c.A481T | p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F p.I161F | 13.89 | 2.485E-5 | Viggiano2022
GT
| |
CACNA1G
| 13462.p1 | chr17: 48647139-48647139 | G | A | exonic | | De novo | synonymous SNV | NM_001256324 NM_001256325 NM_001256326 NM_001256327 NM_001256328 NM_001256329 NM_001256330 NM_001256331 NM_001256332 NM_001256333 NM_001256334 NM_001256359 NM_001256360 NM_001256361 NM_018896 NM_198376 NM_198377 NM_198378 NM_198379 NM_198380 NM_198382 NM_198383 NM_198384 NM_198385 NM_198386 NM_198387 NM_198388 NM_198396 | c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A | p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P | - | - | Iossifov2012
E
Iossifov2014
E
Kosmicki2017
E
Satterstrom2020
E
| |
CACNA1G
| 11573.p1 | chr17: 48680533-48680533 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001256332 NM_198376 NM_198379 NM_198382 NM_198383 NM_198387 NM_198388 NM_198396 NM_001256324 NM_001256325 NM_001256326 NM_001256327 NM_001256328 NM_001256329 NM_001256330 NM_001256331 NM_001256333 NM_001256334 NM_001256359 NM_001256360 NM_001256361 NM_018896 NM_198377 NM_198378 NM_198380 NM_198384 NM_198385 NM_198386 | c.G4073A c.G4073A c.G4073A c.G4073A c.G4073A c.G4073A c.G4073A c.G4073A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A | p.R1358Q p.R1358Q p.R1358Q p.R1358Q p.R1358Q p.R1358Q p.R1358Q p.R1358Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q | 35.0 | - | Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Satterstrom2020
E
Turner2017
G
Wilfert2021
G
| |
CACNA1G
| 10C113676 | chr17: 48695619-48695619 | G | A | exonic | | De novo | nonsynonymous SNV | NM_198376 NM_198379 NM_198387 NM_198388 NM_198396 NM_001256324 NM_001256326 NM_001256328 NM_001256330 NM_001256331 NM_001256332 NM_001256334 NM_001256360 NM_001256361 NM_198377 NM_198378 NM_198380 NM_198382 NM_198383 NM_198386 NM_001256325 NM_001256327 NM_001256329 NM_001256333 NM_001256359 NM_018896 NM_198384 NM_198385 | c.G5240A c.G5240A c.G5240A c.G5219A c.G5240A c.G5288A c.G5207A c.G5267A c.G5207A c.G5186A c.G5171A c.G5309A c.G5234A c.G5228A c.G5309A c.G5309A c.G5309A c.G5273A c.G5273A c.G5288A c.G5363A c.G5321A c.G5240A c.G5342A c.G5261A c.G5342A c.G5342A c.G5342A | p.R1747H p.R1747H p.R1747H p.R1740H p.R1747H p.R1763H p.R1736H p.R1756H p.R1736H p.R1729H p.R1724H p.R1770H p.R1745H p.R1743H p.R1770H p.R1770H p.R1770H p.R1758H p.R1758H p.R1763H p.R1788H p.R1774H p.R1747H p.R1781H p.R1754H p.R1781H p.R1781H p.R1781H | 32.0 | 2.486E-5 | Fu2022
E
Satterstrom2020
E
| |
CACNA1G
| 11573_p1 | chr17: 48680533-48680533 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001256332 NM_198376 NM_198379 NM_198382 NM_198383 NM_198387 NM_198388 NM_198396 NM_001256324 NM_001256325 NM_001256326 NM_001256327 NM_001256328 NM_001256329 NM_001256330 NM_001256331 NM_001256333 NM_001256334 NM_001256359 NM_001256360 NM_001256361 NM_018896 NM_198377 NM_198378 NM_198380 NM_198384 NM_198385 NM_198386 | c.G4073A c.G4073A c.G4073A c.G4073A c.G4073A c.G4073A c.G4073A c.G4073A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A | p.R1358Q p.R1358Q p.R1358Q p.R1358Q p.R1358Q p.R1358Q p.R1358Q p.R1358Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q | 35.0 | - | Fu2022
E
| |
CACNA1G
| AU1698302 | chr17: 48644370-48644370 | A | C | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
CACNA1G
| Viggiano2022:66.3 | chr17: 48674196-48674196 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_001256332 NM_198376 NM_198379 NM_198382 NM_198383 NM_198387 NM_198388 NM_198396 NM_001256324 NM_001256325 NM_001256326 NM_001256327 NM_001256328 NM_001256329 NM_001256330 NM_001256331 NM_001256333 NM_001256334 NM_001256359 NM_001256360 NM_001256361 NM_018896 NM_198377 NM_198378 NM_198380 NM_198384 NM_198385 NM_198386 | c.G3101A c.G3101A c.G3101A c.G3101A c.G3101A c.G3101A c.G3101A c.G3101A c.G3170A c.G3170A c.G3170A c.G3170A c.G3170A c.G3170A c.G3170A c.G3170A c.G3170A c.G3170A c.G3170A c.G3170A c.G3170A c.G3170A c.G3170A c.G3170A c.G3170A c.G3170A c.G3170A c.G3170A | p.G1034D p.G1034D p.G1034D p.G1034D p.G1034D p.G1034D p.G1034D p.G1034D p.G1057D p.G1057D p.G1057D p.G1057D p.G1057D p.G1057D p.G1057D p.G1057D p.G1057D p.G1057D p.G1057D p.G1057D p.G1057D p.G1057D p.G1057D p.G1057D p.G1057D p.G1057D p.G1057D p.G1057D | 20.9 | - | Viggiano2022
GT
| |
CACNA1G
| SSC02859 | chr17: 48680533-48680533 | G | A | exonic | | | nonsynonymous SNV | NM_001256332 NM_198376 NM_198379 NM_198382 NM_198383 NM_198387 NM_198388 NM_198396 NM_001256324 NM_001256325 NM_001256326 NM_001256327 NM_001256328 NM_001256329 NM_001256330 NM_001256331 NM_001256333 NM_001256334 NM_001256359 NM_001256360 NM_001256361 NM_018896 NM_198377 NM_198378 NM_198380 NM_198384 NM_198385 NM_198386 | c.G4073A c.G4073A c.G4073A c.G4073A c.G4073A c.G4073A c.G4073A c.G4073A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A c.G4142A | p.R1358Q p.R1358Q p.R1358Q p.R1358Q p.R1358Q p.R1358Q p.R1358Q p.R1358Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q p.R1381Q | 35.0 | - | Antaki2022
GE
| |
CACNA1G
| Viggiano2022:34.3 | chr17: 48653223-48653223 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_001256324 NM_001256325 NM_001256326 NM_001256327 NM_001256328 NM_001256329 NM_001256330 NM_001256331 NM_001256332 NM_001256333 NM_001256334 NM_001256359 NM_001256360 NM_001256361 NM_018896 NM_198376 NM_198377 NM_198378 NM_198379 NM_198380 NM_198382 NM_198383 NM_198384 NM_198385 NM_198386 NM_198387 NM_198388 NM_198396 | c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A c.G1460A | p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H p.R487H | 18.38 | 5.387E-5 | Viggiano2022
GT
| |
CACNA1G
| Viggiano2022:5.3 | chr17: 48703465-48703465 | C | G | exonic | | Paternal | nonsynonymous SNV | NM_198387 NM_198388 NM_001256328 NM_001256330 NM_001256331 NM_001256332 NM_001256360 NM_001256361 NM_198378 NM_198379 NM_198382 NM_198386 NM_001256324 NM_001256325 NM_001256326 NM_001256327 NM_001256329 NM_001256359 NM_198380 NM_198383 NM_198384 NM_198396 NM_198377 NM_198385 NM_018896 | c.C6106G c.C6085G c.C6133G c.C6073G c.C6052G c.C6037G c.C6100G c.C6094G c.C6175G c.C6250G c.C6139G c.C6154G c.C6298G c.C6229G c.C6217G c.C6187G c.C6106G c.C6127G c.C6319G c.C6274G c.C6208G c.C6385G c.C6454G c.C6352G c.C6487G | p.L2036V p.L2029V p.L2045V p.L2025V p.L2018V p.L2013V p.L2034V p.L2032V p.L2059V p.L2084V p.L2047V p.L2052V p.L2100V p.L2077V p.L2073V p.L2063V p.L2036V p.L2043V p.L2107V p.L2092V p.L2070V p.L2129V p.L2152V p.L2118V p.L2163V | 6.403 | - | Viggiano2022
GT
| |
CACNA1G
| SP0026360 | chr17: 48683352-48683352 | C | T | exonic | | De novo | nonsynonymous SNV | NM_001256332 NM_198376 NM_198379 NM_198382 NM_198383 NM_198387 NM_198388 NM_198396 NM_001256324 NM_001256325 NM_001256326 NM_001256327 NM_001256328 NM_001256329 NM_001256330 NM_001256331 NM_001256333 NM_001256334 NM_001256359 NM_001256360 NM_001256361 NM_018896 NM_198377 NM_198378 NM_198380 NM_198384 NM_198385 NM_198386 | c.C4321T c.C4321T c.C4321T c.C4321T c.C4321T c.C4321T c.C4321T c.C4321T c.C4390T c.C4390T c.C4390T c.C4390T c.C4390T c.C4390T c.C4390T c.C4390T c.C4390T c.C4390T c.C4390T c.C4390T c.C4390T c.C4390T c.C4390T c.C4390T c.C4390T c.C4390T c.C4390T c.C4390T | p.R1441W p.R1441W p.R1441W p.R1441W p.R1441W p.R1441W p.R1441W p.R1441W p.R1464W p.R1464W p.R1464W p.R1464W p.R1464W p.R1464W p.R1464W p.R1464W p.R1464W p.R1464W p.R1464W p.R1464W p.R1464W p.R1464W p.R1464W p.R1464W p.R1464W p.R1464W p.R1464W p.R1464W | 22.0 | - | Antaki2022
GE
Fu2022
E
| |
CACNA1G
| SP0059934 | chr17: 48695349-48695349 | T | C | intronic | | De novo | | | | | - | - | Fu2022
E
| |
CACNA1G
| 518-09-112528 | chr17: 48677099-48677099 | G | T | exonic | | De novo | nonsynonymous SNV | NM_001256332 NM_198376 NM_198379 NM_198382 NM_198383 NM_198387 NM_198388 NM_198396 NM_001256324 NM_001256325 NM_001256326 NM_001256327 NM_001256328 NM_001256329 NM_001256330 NM_001256331 NM_001256333 NM_001256334 NM_001256359 NM_001256360 NM_001256361 NM_018896 NM_198377 NM_198378 NM_198380 NM_198384 NM_198385 NM_198386 | c.G3500T c.G3500T c.G3500T c.G3500T c.G3500T c.G3500T c.G3500T c.G3500T c.G3569T c.G3569T c.G3569T c.G3569T c.G3569T c.G3569T c.G3569T c.G3569T c.G3569T c.G3569T c.G3569T c.G3569T c.G3569T c.G3569T c.G3569T c.G3569T c.G3569T c.G3569T c.G3569T c.G3569T | p.R1167L p.R1167L p.R1167L p.R1167L p.R1167L p.R1167L p.R1167L p.R1167L p.R1190L p.R1190L p.R1190L p.R1190L p.R1190L p.R1190L p.R1190L p.R1190L p.R1190L p.R1190L p.R1190L p.R1190L p.R1190L p.R1190L p.R1190L p.R1190L p.R1190L p.R1190L p.R1190L p.R1190L | 9.153 | - | Fu2022
E
Satterstrom2020
E
| |
CACNA1G
| SP0048552 | chr17: 48650062-48650062 | C | T | exonic | | De novo | synonymous SNV | NM_001256324 NM_001256325 NM_001256326 NM_001256327 NM_001256328 NM_001256329 NM_001256330 NM_001256331 NM_001256332 NM_001256333 NM_001256334 NM_001256359 NM_001256360 NM_001256361 NM_018896 NM_198376 NM_198377 NM_198378 NM_198379 NM_198380 NM_198382 NM_198383 NM_198384 NM_198385 NM_198386 NM_198387 NM_198388 NM_198396 | c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T c.C894T | p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C p.C298C | - | 9.51E-6 | Fu2022
E
| |
CACNA1G
| SP0122521 | chr17: 48701693-48701693 | C | CCCCCCCCCCCCGGG | intronic | | De novo | | | | | - | - | Fu2022
E
| |
CACNA1G
| PN400503 | chr17: 48650405-48650407 | CGA | C | exonic | | Unknown | frameshift deletion | NM_001256324 NM_001256325 NM_001256326 NM_001256327 NM_001256328 NM_001256329 NM_001256330 NM_001256331 NM_001256332 NM_001256333 NM_001256334 NM_001256359 NM_001256360 NM_001256361 NM_018896 NM_198376 NM_198377 NM_198378 NM_198379 NM_198380 NM_198382 NM_198383 NM_198384 NM_198385 NM_198386 NM_198387 NM_198388 NM_198396 | c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del c.1072_1073del | p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs p.D358fs | - | - | Leblond2019
E
| |
CACNA1G
| AU4310301 | chr17: 48706398-48706398 | T | C | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
CACNA1G
| SP0028690 | chr17: 48703985-48703985 | C | T | exonic | | De novo | nonsynonymous SNV | NM_198387 NM_198388 NM_001256328 NM_001256330 NM_001256331 NM_001256332 NM_001256360 NM_001256361 NM_198376 NM_198378 NM_198379 NM_198382 NM_198386 NM_001256324 NM_001256325 NM_001256326 NM_001256327 NM_001256329 NM_001256334 NM_001256359 NM_198380 NM_198383 NM_198384 NM_198396 NM_001256333 NM_198377 NM_198385 NM_018896 | c.C6626T c.C6605T c.C6653T c.C6593T c.C6572T c.C6557T c.C6620T c.C6614T c.C6389T c.C6695T c.C6770T c.C6659T c.C6674T c.C6818T c.C6749T c.C6737T c.C6707T c.C6626T c.C6458T c.C6647T c.C6839T c.C6794T c.C6728T c.C6905T c.C6491T c.C6974T c.C6872T c.C7007T | p.P2209L p.P2202L p.P2218L p.P2198L p.P2191L p.P2186L p.P2207L p.P2205L p.P2130L p.P2232L p.P2257L p.P2220L p.P2225L p.P2273L p.P2250L p.P2246L p.P2236L p.P2209L p.P2153L p.P2216L p.P2280L p.P2265L p.P2243L p.P2302L p.P2164L p.P2325L p.P2291L p.P2336L | 25.1 | 3.465E-5 | Fu2022
E
| |
CACNA1G
| 2-1206-003 | chr17: 48654851-48654864 | AGTGTGTGTGTGTG | AGTGTGTGTGTG | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
CACNA1G
| SSC07472 | chr17: 48647139-48647139 | G | A | exonic | | De novo | synonymous SNV | NM_001256324 NM_001256325 NM_001256326 NM_001256327 NM_001256328 NM_001256329 NM_001256330 NM_001256331 NM_001256332 NM_001256333 NM_001256334 NM_001256359 NM_001256360 NM_001256361 NM_018896 NM_198376 NM_198377 NM_198378 NM_198379 NM_198380 NM_198382 NM_198383 NM_198384 NM_198385 NM_198386 NM_198387 NM_198388 NM_198396 | c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A c.G561A | p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P p.P187P | - | - | Fu2022
E
Lim2017
E
| |