OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.128634291T>A | CA375109506 | DYNC2I2 | c.1307A>T (p.Lys436Met) c.1223A>T (p.Lys408Met) | |
| 9 | g.128634291T>C | CA210607 | DYNC2I2 | c.1307A>G (p.Lys436Arg) c.1223A>G (p.Lys408Arg) | ClinVar dbSNP gnomAD v4 |
| 9 | g.128634291T>G | CA375109510 | DYNC2I2 | c.1307A>C (p.Lys436Thr) c.1223A>C (p.Lys408Thr) | dbSNP |
| 9 | g.128634291T= | CA1880372498 | DYNC2I2 | c.1307A= (p.Lys436=) c.1223A= (p.Lys408=) | |
| 9 | g.128634292T>A | CA375109515 | DYNC2I2 | c.1306A>T (p.Lys436Ter) c.1222A>T (p.Lys408Ter) | |
| 9 | g.128634292T>C | CA375109517 | DYNC2I2 | c.1306A>G (p.Lys436Glu) c.1222A>G (p.Lys408Glu) | |
| 9 | g.128634292T>G | CA375109513 | DYNC2I2 | c.1306A>C (p.Lys436Gln) c.1222A>C (p.Lys408Gln) | |
| 9 | g.128634292_128634296delinsTGAGG | CA1880372499 | DYNC2I2 | c.1302_1306delinsCCTCA (p.Ser434=) c.1218_1222delinsCCTCA (p.Ser406=) | |
| 9 | g.128634293G>A | CA5266273 | DYNC2I2 | c.1305C>T (p.Leu435=) c.1221C>T (p.Leu407=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128634293G>C | CA5266272 | DYNC2I2 | c.1305C>G (p.Leu435=) c.1221C>G (p.Leu407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128634293G= | CA1880372501 | DYNC2I2 | c.1305C= (p.Leu435=) c.1221C= (p.Leu407=) | |
| 9 | g.128634293G>T | CA467485459 | DYNC2I2 | c.1305C>A (p.Leu435=) c.1221C>A (p.Leu407=) | |
| 9 | g.128634296_128634299del | CA1880372500 | DYNC2I2 | c.1302_1305del (p.Leu435SerfsTer?) c.1218_1221del (p.Leu407SerfsTer?) | dbSNP gnomAD v4 |
| 9 | g.128634293_128634314dup | CA2691942702 | DYNC2I2 | c.1284_1305dup (p.Lys436AspfsTer31) c.1200_1221dup (p.Lys408AspfsTer31) | gnomAD v4 |
| 9 | g.128634294A>C | CA375109531 | DYNC2I2 | c.1304T>G (p.Leu435Arg) c.1220T>G (p.Leu407Arg) | |
| 9 | g.128634294A>G | CA375109534 | DYNC2I2 | c.1304T>C (p.Leu435Pro) c.1220T>C (p.Leu407Pro) | |
| 9 | g.128634294A>T | CA375109537 | DYNC2I2 | c.1304T>A (p.Leu435His) c.1220T>A (p.Leu407His) | |
| 9 | g.128634295G>A | CA375109538 | DYNC2I2 | c.1303C>T (p.Leu435Phe) c.1219C>T (p.Leu407Phe) | dbSNP gnomAD v4 |
| 9 | g.128634295G>C | CA375109542 | DYNC2I2 | c.1303C>G (p.Leu435Val) c.1219C>G (p.Leu407Val) | |
| 9 | g.128634295G= | CA1880372502 | DYNC2I2 | c.1303C= (p.Leu435=) c.1219C= (p.Leu407=) | |
| 9 | g.128634295G>T | CA375109556 | DYNC2I2 | c.1303C>A (p.Leu435Ile) c.1219C>A (p.Leu407Ile) | |
| 9 | g.128634296G>A | CA467485460 | DYNC2I2 | c.1302C>T (p.Ser434=) c.1218C>T (p.Ser406=) | gnomAD v4 |
| 9 | g.128634296G>C | CA467485462 | DYNC2I2 | c.1302C>G (p.Ser434=) c.1218C>G (p.Ser406=) | |
| 9 | g.128634296G>T | CA467485463 | DYNC2I2 | c.1302C>A (p.Ser434=) c.1218C>A (p.Ser406=) | |
| 9 | g.128634297G>A | CA375109559 | DYNC2I2 | c.1301C>T (p.Ser434Phe) c.1217C>T (p.Ser406Phe) | gnomAD v4 |
| 9 | g.128634297G>C | CA375109560 | DYNC2I2 | c.1301C>G (p.Ser434Cys) c.1217C>G (p.Ser406Cys) | |
| 9 | g.128634297G>T | CA375109561 | DYNC2I2 | c.1301C>A (p.Ser434Tyr) c.1217C>A (p.Ser406Tyr) | |
| 9 | g.128634298A= | CA1880372503 | DYNC2I2 | c.1300T= (p.Ser434=) c.1216T= (p.Ser406=) | |
| 9 | g.128634298A>C | CA375109564 | DYNC2I2 | c.1300T>G (p.Ser434Ala) c.1216T>G (p.Ser406Ala) | |
| 9 | g.128634298A>G | CA375109569 | DYNC2I2 | c.1300T>C (p.Ser434Pro) c.1216T>C (p.Ser406Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128634298A>T | CA375109574 | DYNC2I2 | c.1300T>A (p.Ser434Thr) c.1216T>A (p.Ser406Thr) | |
| 9 | g.128634299G>A | CA467485464 | DYNC2I2 | c.1299C>T (p.Leu433=) c.1215C>T (p.Leu405=) | gnomAD v4 |
| 9 | g.128634299G>C | CA467485465 | DYNC2I2 | c.1299C>G (p.Leu433=) c.1215C>G (p.Leu405=) | |
| 9 | g.128634299G>T | CA467485466 | DYNC2I2 | c.1299C>A (p.Leu433=) c.1215C>A (p.Leu405=) | |
| 9 | g.128634300A>C | CA375109579 | DYNC2I2 | c.1298T>G (p.Leu433Arg) c.1214T>G (p.Leu405Arg) | |
| 9 | g.128634300A>G | CA375109576 | DYNC2I2 | c.1298T>C (p.Leu433Pro) c.1214T>C (p.Leu405Pro) | |
| 9 | g.128634300A>T | CA375109577 | DYNC2I2 | c.1298T>A (p.Leu433His) c.1214T>A (p.Leu405His) | |
| 9 | g.128634301G>A | CA375109581 | DYNC2I2 | c.1297C>T (p.Leu433Phe) c.1213C>T (p.Leu405Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128634301G>C | CA200417617 | DYNC2I2 | c.1297C>G (p.Leu433Val) c.1213C>G (p.Leu405Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128634301G= | CA1880372504 | DYNC2I2 | c.1297C= (p.Leu433=) c.1213C= (p.Leu405=) | |
| 9 | g.128634301G>T | CA375109587 | DYNC2I2 | c.1297C>A (p.Leu433Ile) c.1213C>A (p.Leu405Ile) | |
| 9 | g.128634302C>A | CA375109590 | DYNC2I2 | c.1296G>T (p.Gln432His) c.1212G>T (p.Gln404His) | |
| 9 | g.128634302C= | CA1880372505 | DYNC2I2 | c.1296G= (p.Gln432=) c.1212G= (p.Gln404=) | |
| 9 | g.128634302C>G | CA375109592 | DYNC2I2 | c.1296G>C (p.Gln432His) c.1212G>C (p.Gln404His) | |
| 9 | g.128634302C>T | CA200417624 | DYNC2I2 | c.1296G>A (p.Gln432=) c.1212G>A (p.Gln404=) | dbSNP |
| 9 | g.128634303T>A | CA375109599 | DYNC2I2 | c.1295A>T (p.Gln432Leu) c.1211A>T (p.Gln404Leu) | |
| 9 | g.128634303T>C | CA200417630 | DYNC2I2 | c.1295A>G (p.Gln432Arg) c.1211A>G (p.Gln404Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128634303T>G | CA375109604 | DYNC2I2 | c.1295A>C (p.Gln432Pro) c.1211A>C (p.Gln404Pro) | |
| 9 | g.128634303T= | CA1880372506 | DYNC2I2 | c.1295A= (p.Gln432=) c.1211A= (p.Gln404=) | |
| 9 | g.128634303dup | CA860274694 | DYNC2I2 | c.1295dup (p.Leu433AlafsTer27) c.1211dup (p.Leu405AlafsTer27) | dbSNP |
| 9 | g.128634304G>A | CA375109607 | DYNC2I2 | c.1294C>T (p.Gln432Ter) c.1210C>T (p.Gln404Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.128634304G>C | CA375109609 | DYNC2I2 | c.1294C>G (p.Gln432Glu) c.1210C>G (p.Gln404Glu) | |
| 9 | g.128634304G= | CA1880372507 | DYNC2I2 | c.1294C= (p.Gln432=) c.1210C= (p.Gln404=) | |
| 9 | g.128634304G>T | CA375109612 | DYNC2I2 | c.1294C>A (p.Gln432Lys) c.1210C>A (p.Gln404Lys) | |
| 9 | g.128634305C>A | CA467485470 | DYNC2I2 | c.1293G>T (p.Leu431=) c.1209G>T (p.Leu403=) | |
| 9 | g.128634305C>G | CA467485472 | DYNC2I2 | c.1293G>C (p.Leu431=) c.1209G>C (p.Leu403=) | |
| 9 | g.128634305C>T | CA467485471 | DYNC2I2 | c.1293G>A (p.Leu431=) c.1209G>A (p.Leu403=) | |
| 9 | g.128634306A= | CA1880372508 | DYNC2I2 | c.1292T= (p.Leu431=) c.1208T= (p.Leu403=) | |
| 9 | g.128634306A>C | CA200417632 | DYNC2I2 | c.1292T>G (p.Leu431Arg) c.1208T>G (p.Leu403Arg) | dbSNP gnomAD v4 |
| 9 | g.128634306A>G | CA375109617 | DYNC2I2 | c.1292T>C (p.Leu431Pro) c.1208T>C (p.Leu403Pro) | |
| 9 | g.128634306A>T | CA375109615 | DYNC2I2 | c.1292T>A (p.Leu431Gln) c.1208T>A (p.Leu403Gln) | |
| 9 | g.128634307G>A | CA467485474 | DYNC2I2 | c.1291C>T (p.Leu431=) c.1207C>T (p.Leu403=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128634307G>C | CA375109640 | DYNC2I2 | c.1291C>G (p.Leu431Val) c.1207C>G (p.Leu403Val) | |
| 9 | g.128634307G= | CA1880372509 | DYNC2I2 | c.1291C= (p.Leu431=) c.1207C= (p.Leu403=) | |
| 9 | g.128634307G>T | CA375109637 | DYNC2I2 | c.1291C>A (p.Leu431Met) c.1207C>A (p.Leu403Met) | ClinVar |
| 9 | g.128634308C>A | CA467485476 | DYNC2I2 | c.1290G>T (p.Ser430=) c.1206G>T (p.Ser402=) | dbSNP gnomAD v4 |
| 9 | g.128634308C= | CA1880372510 | DYNC2I2 | c.1290G= (p.Ser430=) c.1206G= (p.Ser402=) | |
| 9 | g.128634308C>G | CA467485477 | DYNC2I2 | c.1290G>C (p.Ser430=) c.1206G>C (p.Ser402=) | dbSNP gnomAD v4 |
| 9 | g.128634308C>T | CA5266274 | DYNC2I2 | c.1290G>A (p.Ser430=) c.1206G>A (p.Ser402=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128634309G>A | CA5266275 | DYNC2I2 | c.1289C>T (p.Ser430Leu) c.1205C>T (p.Ser402Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.128634309G>C | CA375109649 | DYNC2I2 | c.1289C>G (p.Ser430Trp) c.1205C>G (p.Ser402Trp) | |
| 9 | g.128634309G= | CA1880372511 | DYNC2I2 | c.1289C= (p.Ser430=) c.1205C= (p.Ser402=) | |
| 9 | g.128634309G>T | CA375109654 | DYNC2I2 | c.1289C>A (p.Ser430Ter) c.1205C>A (p.Ser402Ter) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.128634310A>C | CA375109658 | DYNC2I2 | c.1288T>G (p.Ser430Ala) c.1204T>G (p.Ser402Ala) | |
| 9 | g.128634310A>G | CA375109664 | DYNC2I2 | c.1288T>C (p.Ser430Pro) c.1204T>C (p.Ser402Pro) | |
| 9 | g.128634310A>T | CA375109667 | DYNC2I2 | c.1288T>A (p.Ser430Thr) c.1204T>A (p.Ser402Thr) | |
| 9 | g.128634311A>C | CA467485482 | DYNC2I2 | c.1287T>G (p.Thr429=) c.1203T>G (p.Thr401=) | gnomAD v4 |
| 9 | g.128634311A>G | CA467485483 | DYNC2I2 | c.1287T>C (p.Thr429=) c.1203T>C (p.Thr401=) | |
| 9 | g.128634311A>T | CA467485484 | DYNC2I2 | c.1287T>A (p.Thr429=) c.1203T>A (p.Thr401=) | |
| 9 | g.128634312G>A | CA375109668 | DYNC2I2 | c.1286C>T (p.Thr429Ile) c.1202C>T (p.Thr401Ile) | |
| 9 | g.128634312G>C | CA375109669 | DYNC2I2 | c.1286C>G (p.Thr429Ser) c.1202C>G (p.Thr401Ser) | |
| 9 | g.128634312G>T | CA375109670 | DYNC2I2 | c.1286C>A (p.Thr429Asn) c.1202C>A (p.Thr401Asn) | |
| 9 | g.128634313T>A | CA375109672 | DYNC2I2 | c.1285A>T (p.Thr429Ser) c.1201A>T (p.Thr401Ser) | |
| 9 | g.128634313T>C | CA375109673 | DYNC2I2 | c.1285A>G (p.Thr429Ala) c.1201A>G (p.Thr401Ala) | |
| 9 | g.128634313T>G | CA375109675 | DYNC2I2 | c.1285A>C (p.Thr429Pro) c.1201A>C (p.Thr401Pro) | |
| 9 | g.128634314C>A | CA375109678 | DYNC2I2 | c.1284G>T (p.Leu428Phe) c.1200G>T (p.Leu400Phe) | |
| 9 | g.128634314C= | CA1880372513 | DYNC2I2 | c.1284G= (p.Leu428=) c.1200G= (p.Leu400=) | |
| 9 | g.128634314C>G | CA375109691 | DYNC2I2 | c.1284G>C (p.Leu428Phe) c.1200G>C (p.Leu400Phe) | |
| 9 | g.128634314C>T | CA467485486 | DYNC2I2 | c.1284G>A (p.Leu428=) c.1200G>A (p.Leu400=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128634314_128634320delinsCAAGGGA | CA1880372512 | DYNC2I2 | c.1278_1284delinsTCCCTTG (p.Pro426=) c.1194_1200delinsTCCCTTG (p.Pro398=) | |
| 9 | g.128634315A>C | CA375109701 | DYNC2I2 | c.1283T>G (p.Leu428Trp) c.1199T>G (p.Leu400Trp) | |
| 9 | g.128634315A>G | CA375109711 | DYNC2I2 | c.1283T>C (p.Leu428Ser) c.1199T>C (p.Leu400Ser) | COSMIC |
| 9 | g.128634315A>T | CA375109713 | DYNC2I2 | c.1283T>A (p.Leu428Ter) c.1199T>A (p.Leu400Ter) | |
| 9 | g.128634315_128634318del | CA2691942709 | DYNC2I2 | c.1280_1283del (p.Pro427ArgfsTer?) c.1196_1199del (p.Pro399ArgfsTer?) | gnomAD v4 |
| 9 | g.128634315_128634320del | CA5266276 | DYNC2I2 | c.1278_1283del (p.Pro427_Leu428del) c.1194_1199del (p.Pro399_Leu400del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128634316A= | CA1880372514 | DYNC2I2 | c.1282T= (p.Leu428=) c.1198T= (p.Leu400=) | |
| 9 | g.128634316A>C | CA375109717 | DYNC2I2 | c.1282T>G (p.Leu428Val) c.1198T>G (p.Leu400Val) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128634316A>G | CA467485489 | DYNC2I2 | c.1282T>C (p.Leu428=) c.1198T>C (p.Leu400=) | |
| 9 | g.128634316A>T | CA375109718 | DYNC2I2 | c.1282T>A (p.Leu428Met) c.1198T>A (p.Leu400Met) | gnomAD v4 |
| 9 | g.128634317G>A | CA5266277 | DYNC2I2 | c.1281C>T (p.Pro427=) c.1197C>T (p.Pro399=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128634317G>C | CA467485493 | DYNC2I2 | c.1281C>G (p.Pro427=) c.1197C>G (p.Pro399=) | |
| 9 | g.128634317G= | CA1880372515 | DYNC2I2 | c.1281C= (p.Pro427=) c.1197C= (p.Pro399=) | |
| 9 | g.128634317G>T | CA467485495 | DYNC2I2 | c.1281C>A (p.Pro427=) c.1197C>A (p.Pro399=) | |
| 9 | g.128634318G>A | CA375109729 | DYNC2I2 | c.1280C>T (p.Pro427Leu) c.1196C>T (p.Pro399Leu) | dbSNP gnomAD v4 |
| 9 | g.128634318G>C | CA375109730 | DYNC2I2 | c.1280C>G (p.Pro427Arg) c.1196C>G (p.Pro399Arg) | |
| 9 | g.128634318G= | CA1880372516 | DYNC2I2 | c.1280C= (p.Pro427=) c.1196C= (p.Pro399=) | |
| 9 | g.128634318G>T | CA375109732 | DYNC2I2 | c.1280C>A (p.Pro427His) c.1196C>A (p.Pro399His) | |
| 9 | g.128634319G>A | CA375109738 | DYNC2I2 | c.1279C>T (p.Pro427Ser) c.1195C>T (p.Pro399Ser) | |
| 9 | g.128634319G>C | CA375109746 | DYNC2I2 | c.1279C>G (p.Pro427Ala) c.1195C>G (p.Pro399Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128634319G= | CA1880372517 | DYNC2I2 | c.1279C= (p.Pro427=) c.1195C= (p.Pro399=) | |
| 9 | g.128634319G>T | CA375109749 | DYNC2I2 | c.1279C>A (p.Pro427Thr) c.1195C>A (p.Pro399Thr) | |
| 9 | g.128634320A= | CA1880372518 | DYNC2I2 | c.1278T= (p.Pro426=) c.1194T= (p.Pro398=) | |
| 9 | g.128634320A>C | CA467485499 | DYNC2I2 | c.1278T>G (p.Pro426=) c.1194T>G (p.Pro398=) | |
| 9 | g.128634320A>G | CA467485500 | DYNC2I2 | c.1278T>C (p.Pro426=) c.1194T>C (p.Pro398=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128634320A>T | CA467485501 | DYNC2I2 | c.1278T>A (p.Pro426=) c.1194T>A (p.Pro398=) | |
| 9 | g.128634321G>A | CA375109756 | DYNC2I2 | c.1277C>T (p.Pro426Leu) c.1193C>T (p.Pro398Leu) | |
| 9 | g.128634321G>C | CA375109760 | DYNC2I2 | c.1277C>G (p.Pro426Arg) c.1193C>G (p.Pro398Arg) | |
| 9 | g.128634321G>T | CA375109753 | DYNC2I2 | c.1277C>A (p.Pro426His) c.1193C>A (p.Pro398His) | |
| 9 | g.128634322G>A | CA375109764 | DYNC2I2 | c.1276C>T (p.Pro426Ser) c.1192C>T (p.Pro398Ser) | |
| 9 | g.128634322G>C | CA375109768 | DYNC2I2 | c.1276C>G (p.Pro426Ala) c.1192C>G (p.Pro398Ala) | |
| 9 | g.128634322G>T | CA375109772 | DYNC2I2 | c.1276C>A (p.Pro426Thr) c.1192C>A (p.Pro398Thr) | |
| 9 | g.128634323G>A | CA200417638 | DYNC2I2 | c.1275C>T (p.Ala425=) c.1191C>T (p.Ala397=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128634323G>C | CA467485505 | DYNC2I2 | c.1275C>G (p.Ala425=) c.1191C>G (p.Ala397=) | |
| 9 | g.128634323G= | CA1880372519 | DYNC2I2 | c.1275C= (p.Ala425=) c.1191C= (p.Ala397=) | |
| 9 | g.128634323G>T | CA467485507 | DYNC2I2 | c.1275C>A (p.Ala425=) c.1191C>A (p.Ala397=) | |
| 9 | g.128634324G>A | CA5266278 | DYNC2I2 | c.1274C>T (p.Ala425Val) c.1190C>T (p.Ala397Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128634324G>C | CA375109783 | DYNC2I2 | c.1274C>G (p.Ala425Gly) c.1190C>G (p.Ala397Gly) | |
| 9 | g.128634324G= | CA1880372520 | DYNC2I2 | c.1274C= (p.Ala425=) c.1190C= (p.Ala397=) | |
| 9 | g.128634324G>T | CA375109788 | DYNC2I2 | c.1274C>A (p.Ala425Asp) c.1190C>A (p.Ala397Asp) | |
| 9 | g.128634325C>A | CA375109812 | DYNC2I2 | c.1273G>T (p.Ala425Ser) c.1189G>T (p.Ala397Ser) | |
| 9 | g.128634325C= | CA1880372521 | DYNC2I2 | c.1273G= (p.Ala425=) c.1189G= (p.Ala397=) | |
| 9 | g.128634325C>G | CA375109804 | DYNC2I2 | c.1273G>C (p.Ala425Pro) c.1189G>C (p.Ala397Pro) | |
| 9 | g.128634325C>T | CA375109808 | DYNC2I2 | c.1273G>A (p.Ala425Thr) c.1189G>A (p.Ala397Thr) | dbSNP |
| 9 | g.128634326C>A | CA375109821 | DYNC2I2 | c.1272G>T (p.Gln424His) c.1188G>T (p.Gln396His) | COSMIC |
| 9 | g.128634326C>G | CA375109829 | DYNC2I2 | c.1272G>C (p.Gln424His) c.1188G>C (p.Gln396His) | |
| 9 | g.128634326C>T | CA467485511 | DYNC2I2 | c.1272G>A (p.Gln424=) c.1188G>A (p.Gln396=) | gnomAD v4 |
| 9 | g.128634327T>A | CA375109833 | DYNC2I2 | c.1271A>T (p.Gln424Leu) c.1187A>T (p.Gln396Leu) | |
| 9 | g.128634327T>C | CA375109836 | DYNC2I2 | c.1271A>G (p.Gln424Arg) c.1187A>G (p.Gln396Arg) | gnomAD v4 |
| 9 | g.128634327T>G | CA375109839 | DYNC2I2 | c.1271A>C (p.Gln424Pro) c.1187A>C (p.Gln396Pro) | |
| 9 | g.128634328G>A | CA375109842 | DYNC2I2 | c.1270C>T (p.Gln424Ter) c.1186C>T (p.Gln396Ter) | dbSNP |
| 9 | g.128634328G>C | CA375109847 | DYNC2I2 | c.1270C>G (p.Gln424Glu) c.1186C>G (p.Gln396Glu) | |
| 9 | g.128634328G= | CA1880372522 | DYNC2I2 | c.1270C= (p.Gln424=) c.1186C= (p.Gln396=) | |
| 9 | g.128634328G>T | CA375109845 | DYNC2I2 | c.1270C>A (p.Gln424Lys) c.1186C>A (p.Gln396Lys) | |
| 9 | g.128634329C>A | CA467485517 | DYNC2I2 | c.1269G>T (p.Leu423=) c.1185G>T (p.Leu395=) | |
| 9 | g.128634329C= | CA1880372523 | DYNC2I2 | c.1269G= (p.Leu423=) c.1185G= (p.Leu395=) | |
| 9 | g.128634329C>G | CA467485518 | DYNC2I2 | c.1269G>C (p.Leu423=) c.1185G>C (p.Leu395=) | gnomAD v4 |
| 9 | g.128634329C>T | CA467485519 | DYNC2I2 | c.1269G>A (p.Leu423=) c.1185G>A (p.Leu395=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128634330A>C | CA375109851 | DYNC2I2 | c.1268T>G (p.Leu423Arg) c.1184T>G (p.Leu395Arg) | |
| 9 | g.128634330A>G | CA375109864 | DYNC2I2 | c.1268T>C (p.Leu423Pro) c.1184T>C (p.Leu395Pro) | |
| 9 | g.128634330A>T | CA375109865 | DYNC2I2 | c.1268T>A (p.Leu423Gln) c.1184T>A (p.Leu395Gln) | gnomAD v4 |
| 9 | g.128634331G>A | CA467485521 | DYNC2I2 | c.1267C>T (p.Leu423=) c.1183C>T (p.Leu395=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128634331G>C | CA375109866 | DYNC2I2 | c.1267C>G (p.Leu423Val) c.1183C>G (p.Leu395Val) | |
| 9 | g.128634331G= | CA1880372524 | DYNC2I2 | c.1267C= (p.Leu423=) c.1183C= (p.Leu395=) | |
| 9 | g.128634331G>T | CA375109867 | DYNC2I2 | c.1267C>A (p.Leu423Met) c.1183C>A (p.Leu395Met) | |
| 9 | g.128634332C>A | CA375109871 | DYNC2I2 | c.1266G>T (p.Met422Ile) c.1182G>T (p.Met394Ile) | |
| 9 | g.128634332C= | CA1880372525 | DYNC2I2 | c.1266G= (p.Met422=) c.1182G= (p.Met394=) | |
| 9 | g.128634332C>G | CA375109883 | DYNC2I2 | c.1266G>C (p.Met422Ile) c.1182G>C (p.Met394Ile) | |
| 9 | g.128634332C>T | CA375109885 | DYNC2I2 | c.1266G>A (p.Met422Ile) c.1182G>A (p.Met394Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128634333A>C | CA375109888 | DYNC2I2 | c.1265T>G (p.Met422Arg) c.1181T>G (p.Met394Arg) | |
| 9 | g.128634333A>G | CA375109889 | DYNC2I2 | c.1265T>C (p.Met422Thr) c.1181T>C (p.Met394Thr) | gnomAD v4 |
| 9 | g.128634333A>T | CA375109890 | DYNC2I2 | c.1265T>A (p.Met422Lys) c.1181T>A (p.Met394Lys) | gnomAD v4 |
| 9 | g.128634334T>A | CA375109891 | DYNC2I2 | c.1264A>T (p.Met422Leu) c.1180A>T (p.Met394Leu) | |
| 9 | g.128634334T>C | CA200417657 | DYNC2I2 | c.1264A>G (p.Met422Val) c.1180A>G (p.Met394Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128634334T>G | CA375109893 | DYNC2I2 | c.1264A>C (p.Met422Leu) c.1180A>C (p.Met394Leu) | |
| 9 | g.128634334T= | CA1880372526 | DYNC2I2 | c.1264A= (p.Met422=) c.1180A= (p.Met394=) | |
| 9 | g.128634338_128634348del | CA2691942712 | DYNC2I2 | c.1254_1264del (p.Leu419AlafsTer?) c.1170_1180del (p.Leu391AlafsTer?) | gnomAD v4 |
| 9 | g.128634335G>A | CA467485529 | DYNC2I2 | c.1263C>T (p.Ser421=) c.1179C>T (p.Ser393=) | |
| 9 | g.128634335G>C | CA467485530 | DYNC2I2 | c.1263C>G (p.Ser421=) c.1179C>G (p.Ser393=) | |
| 9 | g.128634335G>T | CA467485528 | DYNC2I2 | c.1263C>A (p.Ser421=) c.1179C>A (p.Ser393=) | |
| 9 | g.128634336dup | CA5266279 | DYNC2I2 | c.1263dup (p.Met422HisfsTer?) c.1179dup (p.Met394HisfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128634336G>A | CA375109905 | DYNC2I2 | c.1262C>T (p.Ser421Phe) c.1178C>T (p.Ser393Phe) | |
| 9 | g.128634336G>C | CA375109906 | DYNC2I2 | c.1262C>G (p.Ser421Cys) c.1178C>G (p.Ser393Cys) | gnomAD v4 |
| 9 | g.128634336G>T | CA375109907 | DYNC2I2 | c.1262C>A (p.Ser421Tyr) c.1178C>A (p.Ser393Tyr) | |
| 9 | g.128634337A>C | CA375109908 | DYNC2I2 | c.1261T>G (p.Ser421Ala) c.1177T>G (p.Ser393Ala) | |
| 9 | g.128634337A>G | CA375109909 | DYNC2I2 | c.1261T>C (p.Ser421Pro) c.1177T>C (p.Ser393Pro) | |
| 9 | g.128634337A>T | CA375109911 | DYNC2I2 | c.1261T>A (p.Ser421Thr) c.1177T>A (p.Ser393Thr) | |
| 9 | g.128634338G>A | CA467485539 | DYNC2I2 | c.1260C>T (p.Tyr420=) c.1176C>T (p.Tyr392=) | |
| 9 | g.128634338G>C | CA375109921 | DYNC2I2 | c.1260C>G (p.Tyr420Ter) c.1176C>G (p.Tyr392Ter) | |
| 9 | g.128634338G>T | CA375109935 | DYNC2I2 | c.1260C>A (p.Tyr420Ter) c.1176C>A (p.Tyr392Ter) | |
| 9 | g.128634339T>A | CA375109937 | DYNC2I2 | c.1259A>T (p.Tyr420Phe) c.1175A>T (p.Tyr392Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128634339T>C | CA200417686 | DYNC2I2 | c.1259A>G (p.Tyr420Cys) c.1175A>G (p.Tyr392Cys) | dbSNP |
| 9 | g.128634339T>G | CA375109947 | DYNC2I2 | c.1259A>C (p.Tyr420Ser) c.1175A>C (p.Tyr392Ser) | |
| 9 | g.128634339T= | CA1880372527 | DYNC2I2 | c.1259A= (p.Tyr420=) c.1175A= (p.Tyr392=) | |
| 9 | g.128634340A>C | CA375109954 | DYNC2I2 | c.1258T>G (p.Tyr420Asp) c.1174T>G (p.Tyr392Asp) | |
| 9 | g.128634340A>G | CA375109952 | DYNC2I2 | c.1258T>C (p.Tyr420His) c.1174T>C (p.Tyr392His) | |
| 9 | g.128634340A>T | CA375109953 | DYNC2I2 | c.1258T>A (p.Tyr420Asn) c.1174T>A (p.Tyr392Asn) | |
| 9 | g.128634341C>A | CA467485551 | DYNC2I2 | c.1257G>T (p.Leu419=) c.1173G>T (p.Leu391=) | |
| 9 | g.128634341C>G | CA467485552 | DYNC2I2 | c.1257G>C (p.Leu419=) c.1173G>C (p.Leu391=) | |
| 9 | g.128634341C>T | CA467485553 | DYNC2I2 | c.1257G>A (p.Leu419=) c.1173G>A (p.Leu391=) | |
| 9 | g.128634342A= | CA1880372528 | DYNC2I2 | c.1256T= (p.Leu419=) c.1172T= (p.Leu391=) | |
| 9 | g.128634342A>C | CA5266280 | DYNC2I2 | c.1256T>G (p.Leu419Arg) c.1172T>G (p.Leu391Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128634342A>G | CA375109958 | DYNC2I2 | c.1256T>C (p.Leu419Pro) c.1172T>C (p.Leu391Pro) | |
| 9 | g.128634342A>T | CA375109966 | DYNC2I2 | c.1256T>A (p.Leu419Gln) c.1172T>A (p.Leu391Gln) | |
| 9 | g.128634343G>A | CA467485554 | DYNC2I2 | c.1255C>T (p.Leu419=) c.1171C>T (p.Leu391=) | gnomAD v4 |
| 9 | g.128634343G>C | CA375109967 | DYNC2I2 | c.1255C>G (p.Leu419Val) c.1171C>G (p.Leu391Val) | gnomAD v4 |
| 9 | g.128634343G>T | CA375109968 | DYNC2I2 | c.1255C>A (p.Leu419Met) c.1171C>A (p.Leu391Met) | |
| 9 | g.128634344G>A | CA5266281 | DYNC2I2 | c.1254C>T (p.His418=) c.1170C>T (p.His390=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128634344G>C | CA375109972 | DYNC2I2 | c.1254C>G (p.His418Gln) c.1170C>G (p.His390Gln) | |
| 9 | g.128634344G= | CA1880372529 | DYNC2I2 | c.1254C= (p.His418=) c.1170C= (p.His390=) | |
| 9 | g.128634344G>T | CA375109982 | DYNC2I2 | c.1254C>A (p.His418Gln) c.1170C>A (p.His390Gln) | |
| 9 | g.128634345T>A | CA375109986 | DYNC2I2 | c.1253A>T (p.His418Leu) c.1169A>T (p.His390Leu) | |
| 9 | g.128634345T>C | CA375109989 | DYNC2I2 | c.1253A>G (p.His418Arg) c.1169A>G (p.His390Arg) | |
| 9 | g.128634345T>G | CA375109993 | DYNC2I2 | c.1253A>C (p.His418Pro) c.1169A>C (p.His390Pro) | |
| 9 | g.128634346G>A | CA375110016 | DYNC2I2 | c.1252C>T (p.His418Tyr) c.1168C>T (p.His390Tyr) | dbSNP gnomAD v4 |
| 9 | g.128634346G>C | CA375110030 | DYNC2I2 | c.1252C>G (p.His418Asp) c.1168C>G (p.His390Asp) | |
| 9 | g.128634346G= | CA1880372530 | DYNC2I2 | c.1252C= (p.His418=) c.1168C= (p.His390=) | |
| 9 | g.128634346G>T | CA375110018 | DYNC2I2 | c.1252C>A (p.His418Asn) c.1168C>A (p.His390Asn) | |
| 9 | g.128634347G>A | CA5266282 | DYNC2I2 | c.1251C>T (p.Val417=) c.1167C>T (p.Val389=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128634347G>C | CA467485562 | DYNC2I2 | c.1251C>G (p.Val417=) c.1167C>G (p.Val389=) | |
| 9 | g.128634347G= | CA1880372531 | DYNC2I2 | c.1251C= (p.Val417=) c.1167C= (p.Val389=) | |
| 9 | g.128634347G>T | CA467485561 | DYNC2I2 | c.1251C>A (p.Val417=) c.1167C>A (p.Val389=) | dbSNP |
| 9 | g.128634348A= | CA1880372532 | DYNC2I2 | c.1250T= (p.Val417=) c.1166T= (p.Val389=) | |
| 9 | g.128634348A>C | CA375110042 | DYNC2I2 | c.1250T>G (p.Val417Gly) c.1166T>G (p.Val389Gly) | |
| 9 | g.128634348A>G | CA375110039 | DYNC2I2 | c.1250T>C (p.Val417Ala) c.1166T>C (p.Val389Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128634348A>T | CA375110047 | DYNC2I2 | c.1250T>A (p.Val417Asp) c.1166T>A (p.Val389Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128634349C>A | CA375110052 | DYNC2I2 | c.1249G>T (p.Val417Phe) c.1165G>T (p.Val389Phe) | |
| 9 | g.128634349C>G | CA375110063 | DYNC2I2 | c.1249G>C (p.Val417Leu) c.1165G>C (p.Val389Leu) | |
| 9 | g.128634349C>T | CA375110060 | DYNC2I2 | c.1249G>A (p.Val417Ile) c.1165G>A (p.Val389Ile) | ClinVar |
| 9 | g.128634350A= | CA1880372533 | DYNC2I2 | c.1248T= (p.His416=) c.1164T= (p.His388=) | |
| 9 | g.128634350A>C | CA375110091 | DYNC2I2 | c.1248T>G (p.His416Gln) c.1164T>G (p.His388Gln) | |
| 9 | g.128634350A>G | CA200417698 | DYNC2I2 | c.1248T>C (p.His416=) c.1164T>C (p.His388=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128634350A>T | CA375110103 | DYNC2I2 | c.1248T>A (p.His416Gln) c.1164T>A (p.His388Gln) | |
| 9 | g.128634351T>A | CA375110106 | DYNC2I2 | c.1247A>T (p.His416Leu) c.1163A>T (p.His388Leu) | |
| 9 | g.128634351T>C | CA375110109 | DYNC2I2 | c.1247A>G (p.His416Arg) c.1163A>G (p.His388Arg) | |
| 9 | g.128634351T>G | CA375110111 | DYNC2I2 | c.1247A>C (p.His416Pro) c.1163A>C (p.His388Pro) | gnomAD v4 |
| 9 | g.128634352G>A | CA5266283 | DYNC2I2 | c.1246C>T (p.His416Tyr) c.1162C>T (p.His388Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128634352G>C | CA375111026 | DYNC2I2 | c.1246C>G (p.His416Asp) c.1162C>G (p.His388Asp) | |
| 9 | g.128634352G= | CA1880372534 | DYNC2I2 | c.1246C= (p.His416=) c.1162C= (p.His388=) | |
| 9 | g.128634352G>T | CA375111033 | DYNC2I2 | c.1246C>A (p.His416Asn) c.1162C>A (p.His388Asn) | |
| 9 | g.128634353C>A | CA467305002 | DYNC2I2 | c.1245G>T (p.Gly415=) c.1161G>T (p.Gly387=) | gnomAD v4 |
| 9 | g.128634353C= | CA1880372535 | DYNC2I2 | c.1245G= (p.Gly415=) c.1161G= (p.Gly387=) | |
| 9 | g.128634353C>G | CA467305005 | DYNC2I2 | c.1245G>C (p.Gly415=) c.1161G>C (p.Gly387=) | |
| 9 | g.128634353C>T | CA5266284 | DYNC2I2 | c.1245G>A (p.Gly415=) c.1161G>A (p.Gly387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128634354C>A | CA375111052 | DYNC2I2 | c.1244G>T (p.Gly415Val) c.1160G>T (p.Gly387Val) | |
| 9 | g.128634354C>G | CA375111049 | DYNC2I2 | c.1244G>C (p.Gly415Ala) c.1160G>C (p.Gly387Ala) | |
| 9 | g.128634354C>T | CA375111047 | DYNC2I2 | c.1244G>A (p.Gly415Glu) c.1160G>A (p.Gly387Glu) | ClinVar dbSNP |
| 9 | g.128634355C>A | CA5266285 | DYNC2I2 | c.1243G>T (p.Gly415Trp) c.1159G>T (p.Gly387Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128634355C= | CA1880372536 | DYNC2I2 | c.1243G= (p.Gly415=) c.1159G= (p.Gly387=) | |
| 9 | g.128634355C>G | CA375111059 | DYNC2I2 | c.1243G>C (p.Gly415Arg) c.1159G>C (p.Gly387Arg) | |
| 9 | g.128634355C>T | CA5266286 | DYNC2I2 | c.1243G>A (p.Gly415Arg) c.1159G>A (p.Gly387Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128634355_128634360del | CA2691942721 | DYNC2I2 | c.1238_1243del (p.Thr413_Gly415delinsArg) c.1154_1159del (p.Thr385_Gly387delinsArg) | gnomAD v4 |
| 9 | g.128634356G>A | CA200417748 | DYNC2I2 | c.1242C>T (p.Asp414=) c.1158C>T (p.Asp386=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.128634356G>C | CA375111070 | DYNC2I2 | c.1242C>G (p.Asp414Glu) c.1158C>G (p.Asp386Glu) | |
| 9 | g.128634356G= | CA1880372537 | DYNC2I2 | c.1242C= (p.Asp414=) c.1158C= (p.Asp386=) | |
| 9 | g.128634356G>T | CA375111079 | DYNC2I2 | c.1242C>A (p.Asp414Glu) c.1158C>A (p.Asp386Glu) | |
| 9 | g.128634357T>A | CA375111082 | DYNC2I2 | c.1241A>T (p.Asp414Val) c.1157A>T (p.Asp386Val) | |
| 9 | g.128634357T>C | CA375111088 | DYNC2I2 | c.1241A>G (p.Asp414Gly) c.1157A>G (p.Asp386Gly) | ClinVar dbSNP gnomAD v4 |
| 9 | g.128634357T>G | CA375111090 | DYNC2I2 | c.1241A>C (p.Asp414Ala) c.1157A>C (p.Asp386Ala) | |
| 9 | g.128634358C>A | CA375111095 | DYNC2I2 | c.1240G>T (p.Asp414Tyr) c.1156G>T (p.Asp386Tyr) | |
| 9 | g.128634358C= | CA1880372538 | DYNC2I2 | c.1240G= (p.Asp414=) c.1156G= (p.Asp386=) | |
| 9 | g.128634358C>G | CA375111096 | DYNC2I2 | c.1240G>C (p.Asp414His) c.1156G>C (p.Asp386His) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128634358C>T | CA375111097 | DYNC2I2 | c.1240G>A (p.Asp414Asn) c.1156G>A (p.Asp386Asn) | |
| 9 | g.128634359A>C | CA467305024 | DYNC2I2 | c.1239T>G (p.Thr413=) c.1155T>G (p.Thr385=) | |
| 9 | g.128634359A>G | CA467305025 | DYNC2I2 | c.1239T>C (p.Thr413=) c.1155T>C (p.Thr385=) | gnomAD v4 |
| 9 | g.128634359A>T | CA467305027 | DYNC2I2 | c.1239T>A (p.Thr413=) c.1155T>A (p.Thr385=) | |
| 9 | g.128634360G>A | CA375111100 | DYNC2I2 | c.1238C>T (p.Thr413Ile) c.1154C>T (p.Thr385Ile) | |
| 9 | g.128634360G>C | CA375111105 | DYNC2I2 | c.1238C>G (p.Thr413Ser) c.1154C>G (p.Thr385Ser) | |
| 9 | g.128634360G>T | CA375111099 | DYNC2I2 | c.1238C>A (p.Thr413Asn) c.1154C>A (p.Thr385Asn) | |
| 9 | g.128634361T>A | CA375111122 | DYNC2I2 | c.1237A>T (p.Thr413Ser) c.1153A>T (p.Thr385Ser) | |
| 9 | g.128634361T>C | CA375111134 | DYNC2I2 | c.1237A>G (p.Thr413Ala) c.1153A>G (p.Thr385Ala) | |
| 9 | g.128634361T>G | CA375111138 | DYNC2I2 | c.1237A>C (p.Thr413Pro) c.1153A>C (p.Thr385Pro) | |
| 9 | g.128634362C>A | CA467305037 | DYNC2I2 | c.1236G>T (p.Gly412=) c.1152G>T (p.Gly384=) | |
| 9 | g.128634362C>G | CA467305034 | DYNC2I2 | c.1236G>C (p.Gly412=) c.1152G>C (p.Gly384=) | |
| 9 | g.128634362C>T | CA467305035 | DYNC2I2 | c.1236G>A (p.Gly412=) c.1152G>A (p.Gly384=) | |
| 9 | g.128634363C>A | CA375111143 | DYNC2I2 | c.1235G>T (p.Gly412Val) c.1151G>T (p.Gly384Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128634363C= | CA1880372539 | DYNC2I2 | c.1235G= (p.Gly412=) c.1151G= (p.Gly384=) | |
| 9 | g.128634363C>G | CA375111150 | DYNC2I2 | c.1235G>C (p.Gly412Ala) c.1151G>C (p.Gly384Ala) | |
| 9 | g.128634363C>T | CA375111156 | DYNC2I2 | c.1235G>A (p.Gly412Glu) c.1151G>A (p.Gly384Glu) | |
| 9 | g.128634364C>A | CA375111159 | DYNC2I2 | c.1234G>T (p.Gly412Trp) c.1150G>T (p.Gly384Trp) | |
| 9 | g.128634364C>G | CA375111160 | DYNC2I2 | c.1234G>C (p.Gly412Arg) c.1150G>C (p.Gly384Arg) | |
| 9 | g.128634364C>T | CA375111162 | DYNC2I2 | c.1234G>A (p.Gly412Arg) c.1150G>A (p.Gly384Arg) | |
| 9 | g.128634365A>C | CA467305045 | DYNC2I2 | c.1233T>G (p.Ala411=) c.1149T>G (p.Ala383=) | |
| 9 | g.128634365A>G | CA467305047 | DYNC2I2 | c.1233T>C (p.Ala411=) c.1149T>C (p.Ala383=) | |
| 9 | g.128634365A>T | CA467305048 | DYNC2I2 | c.1233T>A (p.Ala411=) c.1149T>A (p.Ala383=) | |
| 9 | g.128634366G>A | CA5266287 | DYNC2I2 | c.1232C>T (p.Ala411Val) c.1148C>T (p.Ala383Val) | dbSNP ExAC gnomAD v2 |
| 9 | g.128634366G>C | CA375111164 | DYNC2I2 | c.1232C>G (p.Ala411Gly) c.1148C>G (p.Ala383Gly) | |
| 9 | g.128634366G= | CA1880372540 | DYNC2I2 | c.1232C= (p.Ala411=) c.1148C= (p.Ala383=) | |
| 9 | g.128634366G>T | CA375111177 | DYNC2I2 | c.1232C>A (p.Ala411Asp) c.1148C>A (p.Ala383Asp) | |
| 9 | g.128634367C>A | CA375111204 | DYNC2I2 | c.1231G>T (p.Ala411Ser) c.1147G>T (p.Ala383Ser) | dbSNP gnomAD v4 |
| 9 | g.128634367C= | CA1880372541 | DYNC2I2 | c.1231G= (p.Ala411=) c.1147G= (p.Ala383=) | |
| 9 | g.128634367C>G | CA375111210 | DYNC2I2 | c.1231G>C (p.Ala411Pro) c.1147G>C (p.Ala383Pro) | |
| 9 | g.128634367C>T | CA5266288 | DYNC2I2 | c.1231G>A (p.Ala411Thr) c.1147G>A (p.Ala383Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.128634368G>A | CA5266289 | DYNC2I2 | c.1230C>T (p.Ser410=) c.1146C>T (p.Ser382=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.128634368G>C | CA375111235 | DYNC2I2 | c.1230C>G (p.Ser410Arg) c.1146C>G (p.Ser382Arg) | |
| 9 | g.128634368G= | CA1880372542 | DYNC2I2 | c.1230C= (p.Ser410=) c.1146C= (p.Ser382=) | |
| 9 | g.128634368G>T | CA375111244 | DYNC2I2 | c.1230C>A (p.Ser410Arg) c.1146C>A (p.Ser382Arg) | |
| 9 | g.128634369C>A | CA375111253 | DYNC2I2 | c.1229G>T (p.Ser410Ile) c.1145G>T (p.Ser382Ile) | gnomAD v4 |
| 9 | g.128634369C= | CA1880372543 | DYNC2I2 | c.1229G= (p.Ser410=) c.1145G= (p.Ser382=) | |
| 9 | g.128634369C>G | CA375111255 | DYNC2I2 | c.1229G>C (p.Ser410Thr) c.1145G>C (p.Ser382Thr) | |
| 9 | g.128634369C>T | CA200417768 | DYNC2I2 | c.1229G>A (p.Ser410Asn) c.1145G>A (p.Ser382Asn) | dbSNP |
| 9 | g.128634370T>A | CA375111270 | DYNC2I2 | c.1228A>T (p.Ser410Cys) c.1144A>T (p.Ser382Cys) | |
| 9 | g.128634370T>C | CA375111288 | DYNC2I2 | c.1228A>G (p.Ser410Gly) c.1144A>G (p.Ser382Gly) | |
| 9 | g.128634370T>G | CA375111282 | DYNC2I2 | c.1228A>C (p.Ser410Arg) c.1144A>C (p.Ser382Arg) | |
| 9 | g.128634371C>A | CA467305066 | DYNC2I2 | c.1227G>T (p.Leu409=) c.1143G>T (p.Leu381=) | |
| 9 | g.128634371C>G | CA467305067 | DYNC2I2 | c.1227G>C (p.Leu409=) c.1143G>C (p.Leu381=) | |
| 9 | g.128634371C>T | CA467305069 | DYNC2I2 | c.1227G>A (p.Leu409=) c.1143G>A (p.Leu381=) | |
| 9 | g.128634372A>C | CA375111295 | DYNC2I2 | c.1226T>G (p.Leu409Arg) c.1142T>G (p.Leu381Arg) | |
| 9 | g.128634372A>G | CA375111318 | DYNC2I2 | c.1226T>C (p.Leu409Pro) c.1142T>C (p.Leu381Pro) | |
| 9 | g.128634372A>T | CA375111320 | DYNC2I2 | c.1226T>A (p.Leu409Gln) c.1142T>A (p.Leu381Gln) | |
| 9 | g.128634373G>A | CA467305073 | DYNC2I2 | c.1225C>T (p.Leu409=) c.1141C>T (p.Leu381=) | ClinVar dbSNP |
| 9 | g.128634373G>C | CA375111322 | DYNC2I2 | c.1225C>G (p.Leu409Val) c.1141C>G (p.Leu381Val) | |
| 9 | g.128634373G= | CA1880372544 | DYNC2I2 | c.1225C= (p.Leu409=) c.1141C= (p.Leu381=) | |
| 9 | g.128634373G>T | CA375111324 | DYNC2I2 | c.1225C>A (p.Leu409Met) c.1141C>A (p.Leu381Met) | |
| 9 | g.128634374G>A | CA467305076 | DYNC2I2 | c.1224C>T (p.Phe408=) c.1140C>T (p.Phe380=) | gnomAD v4 |
| 9 | g.128634374G>C | CA375111332 | DYNC2I2 | c.1224C>G (p.Phe408Leu) c.1140C>G (p.Phe380Leu) | |
| 9 | g.128634374G>T | CA375111333 | DYNC2I2 | c.1224C>A (p.Phe408Leu) c.1140C>A (p.Phe380Leu) | |
| 9 | g.128634375A>C | CA375111336 | DYNC2I2 | c.1223T>G (p.Phe408Cys) c.1139T>G (p.Phe380Cys) | |
| 9 | g.128634375A>G | CA375111341 | DYNC2I2 | c.1223T>C (p.Phe408Ser) c.1139T>C (p.Phe380Ser) | |
| 9 | g.128634375A>T | CA375111340 | DYNC2I2 | c.1223T>A (p.Phe408Tyr) c.1139T>A (p.Phe380Tyr) | |
| 9 | g.128634376A>C | CA375111342 | DYNC2I2 | c.1222T>G (p.Phe408Val) c.1138T>G (p.Phe380Val) | |
| 9 | g.128634376A>G | CA375111343 | DYNC2I2 | c.1222T>C (p.Phe408Leu) c.1138T>C (p.Phe380Leu) | |
| 9 | g.128634376A>T | CA375111344 | DYNC2I2 | c.1222T>A (p.Phe408Ile) c.1138T>A (p.Phe380Ile) | |
| 9 | g.128634379_128634380del | CA2691942725 | DYNC2I2 | c.1221_1222del (p.Phe408ProfsTer6) c.1137_1138del (p.Phe380ProfsTer6) | gnomAD v4 |
| 9 | g.128634377G>A | CA467305087 | DYNC2I2 | c.1221C>T (p.Leu407=) c.1137C>T (p.Leu379=) | |
| 9 | g.128634377G>C | CA467305088 | DYNC2I2 | c.1221C>G (p.Leu407=) c.1137C>G (p.Leu379=) | gnomAD v4 |
| 9 | g.128634377G>T | CA467305085 | DYNC2I2 | c.1221C>A (p.Leu407=) c.1137C>A (p.Leu379=) | |
| 9 | g.128634378A>C | CA375111345 | DYNC2I2 | c.1220T>G (p.Leu407Arg) c.1136T>G (p.Leu379Arg) | |
| 9 | g.128634378A>G | CA375111346 | DYNC2I2 | c.1220T>C (p.Leu407Pro) c.1136T>C (p.Leu379Pro) | |
| 9 | g.128634378A>T | CA375111347 | DYNC2I2 | c.1220T>A (p.Leu407His) c.1136T>A (p.Leu379His) | |
| 9 | g.128634379G>A | CA375111350 | DYNC2I2 | c.1219C>T (p.Leu407Phe) c.1135C>T (p.Leu379Phe) | gnomAD v4 |
| 9 | g.128634379G>C | CA375111366 | DYNC2I2 | c.1219C>G (p.Leu407Val) c.1135C>G (p.Leu379Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128634379G= | CA1880372545 | DYNC2I2 | c.1219C= (p.Leu407=) c.1135C= (p.Leu379=) | |
| 9 | g.128634379G>T | CA375111367 | DYNC2I2 | c.1219C>A (p.Leu407Ile) c.1135C>A (p.Leu379Ile) | gnomAD v4 |
| 9 | g.128634380A= | CA1880372546 | DYNC2I2 | c.1218T= (p.Asn406=) c.1134T= (p.Asn378=) | |
| 9 | g.128634380A>C | CA375111368 | DYNC2I2 | c.1218T>G (p.Asn406Lys) c.1134T>G (p.Asn378Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128634380A>G | CA467305095 | DYNC2I2 | c.1218T>C (p.Asn406=) c.1134T>C (p.Asn378=) | gnomAD v4 |
| 9 | g.128634380A>T | CA375111370 | DYNC2I2 | c.1218T>A (p.Asn406Lys) c.1134T>A (p.Asn378Lys) | |
| 9 | g.128634381T>A | CA375111381 | DYNC2I2 | c.1217A>T (p.Asn406Ile) c.1133A>T (p.Asn378Ile) | |
| 9 | g.128634381T>C | CA375111378 | DYNC2I2 | c.1217A>G (p.Asn406Ser) c.1133A>G (p.Asn378Ser) | dbSNP |
| 9 | g.128634381T>G | CA5266290 | DYNC2I2 | c.1217A>C (p.Asn406Thr) c.1133A>C (p.Asn378Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128634381T= | CA1880372547 | DYNC2I2 | c.1217A= (p.Asn406=) c.1133A= (p.Asn378=) | |
| 9 | g.128634382T>A | CA375111395 | DYNC2I2 | c.1216A>T (p.Asn406Tyr) c.1132A>T (p.Asn378Tyr) | |
| 9 | g.128634382T>C | CA375111398 | DYNC2I2 | c.1216A>G (p.Asn406Asp) c.1132A>G (p.Asn378Asp) | |
| 9 | g.128634382T>G | CA375111402 | DYNC2I2 | c.1216A>C (p.Asn406His) c.1132A>C (p.Asn378His) | gnomAD v4 |
| 9 | g.128634383C>A | CA375111416 | DYNC2I2 | c.1215G>T (p.Arg405Ser) c.1131G>T (p.Arg377Ser) | |
| 9 | g.128634383C>G | CA375111419 | DYNC2I2 | c.1215G>C (p.Arg405Ser) c.1131G>C (p.Arg377Ser) | |
| 9 | g.128634383C>T | CA467305105 | DYNC2I2 | c.1215G>A (p.Arg405=) c.1131G>A (p.Arg377=) | gnomAD v4 |
| 9 | g.128634384C>A | CA375111423 | DYNC2I2 | c.1215-1G>T (n.1215-1G>T) c.1131-1G>T (n.1131-1G>T) | |
| 9 | g.128634384C>G | CA375111434 | DYNC2I2 | c.1215-1G>C (n.1215-1G>C) c.1131-1G>C (n.1131-1G>C) | |
| 9 | g.128634384C>T | CA375111436 | DYNC2I2 | c.1215-1G>A (n.1215-1G>A) c.1131-1G>A (n.1131-1G>A) | gnomAD v4 |
| 9 | g.128634385T>A | CA375111446 | DYNC2I2 | c.1215-2A>T (n.1215-2A>T) c.1131-2A>T (n.1131-2A>T) | |
| 9 | g.128634385T>C | CA375111449 | DYNC2I2 | c.1215-2A>G (n.1215-2A>G) c.1131-2A>G (n.1131-2A>G) | |
| 9 | g.128634385T>G | CA375111453 | DYNC2I2 | c.1215-2A>C (n.1215-2A>C) c.1131-2A>C (n.1131-2A>C) | |
| 9 | g.128634386A>G | CA2579470633 | DYNC2I2 | c.1215-3T>C (n.1215-3T>C) c.1131-3T>C (n.1131-3T>C) | |
| 9 | g.128634387G>C | CA2691942732 | DYNC2I2 | c.1215-4C>G (n.1215-4C>G) c.1131-4C>G (n.1131-4C>G) | gnomAD v4 |
| 9 | g.128634388A= | CA1880372548 | DYNC2I2 | c.1215-5T= (n.1215-5T=) c.1131-5T= (n.1131-5T=) | |
| 9 | g.128634388A>T | CA590941970 | DYNC2I2 | c.1215-5T>A (n.1215-5T>A) c.1131-5T>A (n.1131-5T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128634389C>A | CA2691942733 | DYNC2I2 | c.1215-6G>T (n.1215-6G>T) c.1131-6G>T (n.1131-6G>T) | gnomAD v4 |
| 9 | g.128634389C= | CA1880372549 | DYNC2I2 | c.1215-6G= (n.1215-6G=) c.1131-6G= (n.1131-6G=) | |
| 9 | g.128634389C>T | CA5266291 | DYNC2I2 | c.1215-6G>A (n.1215-6G>A) c.1131-6G>A (n.1131-6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128634390G>A | CA5266292 | DYNC2I2 | c.1215-7C>T (n.1215-7C>T) c.1131-7C>T (n.1131-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128634390G>C | CA200417788 | DYNC2I2 | c.1215-7C>G (n.1215-7C>G) c.1131-7C>G (n.1131-7C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128634390G= | CA1880372550 | DYNC2I2 | c.1215-7C= (n.1215-7C=) c.1131-7C= (n.1131-7C=) | |
| 9 | g.128634390G>T | CA2741056713 | DYNC2I2 | c.1215-7C>A (n.1215-7C>A) c.1131-7C>A (n.1131-7C>A) | |
| 9 | g.128634392dup | CA2691942734 | DYNC2I2 | c.1215-7dup (n.1215-7dup) c.1131-7dup (n.1131-7dup) | gnomAD v4 |
| 9 | g.128634391G>A | CA2603154244 | DYNC2I2 | c.1215-8C>T (n.1215-8C>T) c.1131-8C>T (n.1131-8C>T) | dbSNP gnomAD v3 |