Q9P2K1
PR
Gene name |
CC2D2A (KIAA1345) |
Protein name |
Coiled-coil and C2 domain-containing protein 2A |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57545 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9P2K1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9P2K1-F1 | Predicted | AlphaFoldDB |
1413 variants for Q9P2K1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs745734694 CA2863234 RCV000728759 RCV003106039 |
3 | P>T | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001850843 RCV000358264 CA10620324 RCV000394779 rs758963962 |
4 | R>G | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001244396 rs1403239059 CA356407094 |
19 | D>V | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1714407144 RCV001236277 |
20 | E>K | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001240421 CA2863292 rs765810643 |
50 | M>K | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002518803 RCV001305618 CA2863295 RCV000331852 rs373080748 |
53 | E>K | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2863296 RCV001342873 rs758324715 |
56 | H>Y | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1433294475 RCV000730430 RCV001071662 |
67 | E>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA92504546 RCV001304003 rs930307925 |
83 | S>N | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001245386 CA356408094 rs1342506197 |
92 | R>K | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs376438052 RCV002525843 CA2863359 RCV000480975 |
96 | A>T | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000735010 CA2863366 RCV002535411 rs373765548 |
102 | G>E | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001351316 rs753884581 CA2863369 |
104 | M>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
CA2863371 RCV001425099 RCV000514250 rs137878385 |
111 | A>V | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000179808 VAR_076881 RCV001147861 rs186264635 RCV001082663 CA203454 RCV001147862 RCV000416151 |
117 | S>R | Joubert syndrome 9 (jbts9) Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 JBTS9; unknown pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs748886997 RCV001147864 RCV001147863 CA2863395 RCV002063654 RCV000424373 |
127 | R>Q | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886042463 CA10604277 RCV000322712 RCV001306459 |
130 | R>C | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs778519147 CA2863397 RCV000733459 RCV000802654 |
130 | R>H | Variant assessed as Somatic; 0.0 impact. Joubert syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs778519147 RCV000330530 RCV000389674 CA10618133 |
130 | R>L | Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA150875 RCV000114178 rs377177061 RCV001074483 RCV000596321 RCV001056175 |
132 | R>* | Joubert syndrome (jbts) Variant assessed as Somatic; 0.0 impact. Joubert syndrome Meckel-Gruber syndrome Retinal dystrophy [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001345218 rs772016081 CA2863398 RCV000386963 |
132 | R>Q | Variant assessed as Somatic; 4.66e-05 impact. Joubert syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1485264498 RCV001149405 RCV001149406 CA356408499 |
151 | V>L | Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000317762 RCV000295467 RCV003128590 rs190694237 RCV000245560 CA247569 RCV000532465 |
167 | K>N | Joubert syndrome Meckel-Gruber syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001330244 RCV001237397 CA356408619 rs1226794909 |
168 | F>S | Joubert syndrome Meckel syndrome, type 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001853050 COSM1594313 RCV000049727 rs386833763 CA144239 |
173 | R>* | Joubert syndrome (jbts) Joubert syndrome endometrium Meckel syndrome, type 6 [Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002561177 CA2863422 rs745699870 RCV001205257 |
173 | R>Q | Variant assessed as Somatic; 0.0 impact. Joubert syndrome Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2863438 RCV001243261 rs745646755 |
181 | V>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2863443 RCV001149407 rs200044412 RCV002070813 RCV001149408 |
188 | A>V | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002535218 RCV000731568 rs761117385 RCV002535217 CA2863446 |
193 | N>K | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1392635342 RCV000659257 |
196 | T>missing | Joubert syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000594378 rs147499316 CA2863449 RCV001057745 |
205 | G>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs965986708 RCV001339545 CA356408920 |
212 | A>P | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001039863 rs768733110 RCV000998222 CA2863458 |
216 | A>V | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746415983 RCV001731937 RCV000808341 |
217 | G>missing | Joubert syndrome Joubert syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000595471 rs1553825978 RCV002532429 |
224 | E>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000283827 RCV000079448 RCV001650887 RCV000860069 RCV000406351 RCV000049728 RCV002225078 rs386833764 RCV000987415 |
229 | E>missing | COACH syndrome 1 Joubert syndrome 1 Joubert syndrome Meckel syndrome, type 6 Meckel-Gruber syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779245267 RCV001238306 CA356409059 |
232 | A>E | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001145023 CA150886 RCV001145024 rs62000428 RCV000472460 RCV000114183 |
241 | E>K | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001145025 rs374554530 CA2863489 RCV000734125 RCV001145026 RCV001063569 |
251 | E>K | Variant assessed as Somatic; 0.0 impact. Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs200434902 RCV001308688 |
262 | D>E | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747042723 CA2863496 RCV001313244 |
263 | D>N | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001228948 COSM1594311 rs775794635 CA2863500 |
278 | R>Q | Variant assessed as Somatic; 0.0 impact. Joubert syndrome endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002485120 CA239182 RCV001229663 RCV000173727 rs372873919 |
278 | R>W | Joubert syndrome Meckel syndrome, type 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001814033 RCV000049729 RCV000725502 rs386833765 |
279 | L>missing | Meckel syndrome, type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2863509 RCV000261006 rs201986486 RCV000369707 RCV000333768 |
294 | V>L | CC2D2A-Related Disorders Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001869144 rs1158349299 RCV001265789 RCV000779432 CA356409564 |
305 | Q>* | Joubert syndrome (jbts) Joubert syndrome CC2D2A-Related Disorders Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000614384 CA2863521 rs201465430 RCV001146974 RCV001700232 RCV001146975 RCV000862325 |
308 | F>L | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001241811 rs1445978091 |
314 | L>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001868951 rs188018643 RCV000730217 CA2863525 |
317 | G>R | Joubert syndrome Variant assessed as Somatic; 5.578e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001340495 CA2863526 rs775632403 RCV000728316 RCV002533088 |
317 | G>V | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001325427 rs374098727 CA92512917 |
320 | P>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000792191 rs1577340510 |
322 | V>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000493522 rs376969878 CA2863529 RCV001146976 RCV001146977 RCV000547136 |
324 | R>C | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001315399 RCV001146979 CA2863530 RCV001146978 RCV000377738 rs113371687 |
324 | R>H | Variant assessed as Somatic; 0.0 impact. Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1425158863 RCV002535421 CA356409695 RCV000735179 |
326 | N>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA356409807 RCV000596306 rs1450279703 RCV002532396 |
340 | E>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA356409827 rs1222588033 RCV001325365 |
343 | W>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001303286 rs748850069 CA2863560 |
361 | P>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356409965 RCV001319432 rs768618373 |
364 | P>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001327714 rs375385399 CA2863564 |
365 | P>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000174275 CA239791 RCV002516624 rs760839591 RCV001423715 |
372 | S>R | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2863568 rs759668652 RCV001213511 |
375 | A>P | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000379834 RCV000322215 rs16892095 RCV000860370 RCV001711271 VAR_038489 RCV000114163 CA150846 |
376 | E>A | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA356410107 RCV001302546 rs1401215213 |
385 | V>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2863609 RCV000636967 RCV000597954 rs115924432 RCV001697392 |
388 | V>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA356410171 RCV001227027 rs368203865 |
393 | H>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
rs200429882 CA2863614 RCV001343601 |
398 | G>E | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002536511 RCV000734121 rs1196012902 CA356410263 RCV002535366 |
408 | I>V | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA356410348 RCV000690006 rs751436798 |
420 | C>W | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000201658 rs762998472 |
421 | F>GMFWQR | Joubert syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1229319521 RCV000689323 CA356410363 CA356410364 |
422 | S>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000456449 rs757208121 CA2863622 RCV000987416 |
423 | R>* | Variant assessed as Somatic; 0.0 impact. Joubert syndrome 1 Joubert syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002507285 rs1560166511 RCV000728462 |
433 | Q>missing | Meckel syndrome, type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000049709 RCV001853047 rs386833745 |
447 | A>missing | Joubert syndrome Meckel syndrome, type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002464415 RCV001376531 rs775138548 CA2863634 RCV001239571 |
447 | A>V | Joubert syndrome Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1300362447 RCV001760005 RCV001056635 CA356410808 |
489 | R>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA2863696 RCV001216486 rs754391657 |
495 | R>C | Variant assessed as Somatic; 0.0 impact. Joubert syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000478789 CA2863697 RCV000729708 rs373906628 RCV001149498 RCV001248595 RCV001149499 |
495 | R>H | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001338653 rs759556765 CA2863699 |
501 | K>E | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000201543 rs863225177 |
501 | K>N | Joubert syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236230 rs1717945434 |
504 | T>I | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs144439937 RCV001149501 RCV001082503 RCV000114164 RCV001149500 VAR_076882 CA150849 RCV000423044 |
507 | K>E | Joubert syndrome 9 (jbts9) Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 JBTS9; benign variant [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA356410974 rs1577354625 RCV000807852 |
511 | K>N | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000049710 rs386833746 CA144213 |
513 | W>R | Meckel syndrome, type 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000730780 RCV000690894 CA2863704 rs751646059 |
516 | M>V | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs375633207 RCV001036444 CA2863705 |
518 | S>Y | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000458965 rs781252161 RCV000763522 CA210275 RCV000201589 RCV001814111 |
520 | R>* | COACH syndrome 1 Joubert syndrome 9 (jbts9) Joubert syndrome (jbts) Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs756638247 RCV001345927 |
521 | E>Q | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777351655 RCV000299384 RCV001205645 CA2863711 |
533 | V>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356411186 RCV001237644 rs1160716658 |
541 | Q>K | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001307669 CA2863723 rs749783221 |
545 | E>K | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001298682 rs1479599144 |
557 | S>T | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201529 rs754221308 CA210253 VAR_076883 RCV002515475 |
559 | L>P | Joubert syndrome 9 (jbts9) Joubert syndrome Joubert syndrome 9 JBTS9 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000335348 rs201954181 RCV002487294 RCV001149503 RCV002518166 RCV001248140 RCV001149502 CA2863732 |
564 | T>M | Joubert syndrome Meckel syndrome, type 6 Inborn genetic diseases Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1718166919 RCV001229993 |
566 | E>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001070174 RCV001149504 RCV001149505 CA2863737 rs368669579 |
568 | A>T | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000291075 rs886059137 RCV000403069 RCV000345965 CA10617295 |
571 | M>I | CC2D2A-Related Disorders Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs768277071 RCV000486740 CA2863739 RCV002525880 |
574 | Y>N | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM1427486 RCV002032368 RCV001145127 RCV001145126 rs543650388 CA2863744 RCV002557107 |
577 | S>L | Variant assessed as Somatic; 0.0 impact. Joubert syndrome large_intestine Meckel syndrome, type 6 Joubert syndrome 9 Inborn genetic diseases [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA92530795 rs980305935 RCV001879968 RCV001257355 |
584 | W>* | Joubert syndrome (jbts) Joubert syndrome Polycystic kidney disease [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2863751 rs116358011 RCV000000778 RCV001385996 |
588 | Q>* | Joubert syndrome Meckel syndrome, type 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs763477416 CA2863765 RCV001729820 RCV001245379 |
589 | R>K | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000339320 RCV001859697 rs886044115 |
594 | K>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2863766 rs764556903 RCV000597793 RCV001860183 |
594 | K>E | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs779393473 RCV001214492 CA2863769 |
600 | E>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2863770 RCV001235019 rs753430251 |
602 | H>Y | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001230318 rs747935651 CA2863773 |
604 | G>S | Variant assessed as Somatic; 0.0 impact. Joubert syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs747187783 RCV002476325 CA2863776 RCV000596285 |
606 | E>V | Meckel syndrome, type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2863777 rs771221391 RCV001234268 |
607 | I>T | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000596880 COSM1328664 CA2863780 RCV001046254 rs376457814 |
610 | P>L | ovary Variant assessed as Somatic; 0.0 impact. Joubert syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001147084 rs201439617 CA240849 RCV001147083 RCV001479910 RCV000765755 RCV000724892 |
613 | E>K | COACH syndrome 1 Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001248185 rs1718226237 |
617 | V>A | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1427654469 RCV001338837 CA356411727 |
619 | P>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs373797532 CA2863785 RCV001147085 RCV001147086 |
620 | S>N | Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000264379 RCV000359038 rs752576142 RCV002520209 RCV001850844 RCV001263341 CA2863789 RCV000484183 RCV000324457 |
627 | R>Q | Intellectual disability Joubert syndrome CC2D2A-Related Disorders Meckel syndrome, type 6 Inborn genetic diseases Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1229418241 RCV001296382 |
628 | A>T | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777510836 RCV001316816 CA2863791 |
632 | Q>P | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA92531579 rs777510836 RCV001304405 |
632 | Q>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001148070 CA2863798 rs201884883 RCV001148071 RCV000694442 RCV000594861 RCV000765756 |
649 | T>M | COACH syndrome 1 Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2863797 rs201884883 RCV000270412 RCV001339478 RCV000379021 |
649 | T>R | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs762298895 RCV001343801 |
651 | V>A | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000734153 RCV001226553 rs762298895 CA2863801 |
651 | V>D | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2863804 RCV001325425 rs759126033 RCV001149614 RCV001149615 |
652 | P>L | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000194608 RCV000862063 RCV001149616 rs16892134 VAR_038490 RCV001705077 CA208880 RCV001149617 |
660 | V>I | Joubert syndrome 9 (jbts9) Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001083444 RCV000514696 CA206244 RCV000193025 rs16892134 RCV000351496 RCV000404783 |
660 | V>L | Joubert syndrome 9 (jbts9) Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001209347 rs1718235188 RCV002480688 |
665 | Q>R | Joubert syndrome Meckel syndrome, type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA92533812 RCV001241799 rs953243101 |
669 | A>E | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001145223 rs200236654 RCV001145224 CA241005 RCV001329599 RCV001239969 RCV000175281 |
680 | R>H | COACH syndrome 1 Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001242160 rs769428879 RCV002274156 CA2863837 |
681 | S>T | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs190698163 RCV000175280 VAR_076884 RCV000863197 CA201370 RCV001711970 |
684 | L>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001070001 CA92533926 rs879877075 RCV000731673 |
685 | K>E | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs369476930 RCV002520210 RCV000298157 RCV000336743 RCV001038299 RCV000394824 RCV000731265 CA2863839 |
686 | V>M | CC2D2A-Related Disorders Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2863844 RCV000813003 rs766282869 |
697 | V>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001145226 CA2863850 RCV001087966 RCV001145225 rs778205727 RCV000726483 |
706 | R>Q | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001850845 RCV000301566 RCV000358729 rs886059139 CA10620313 |
711 | Q>H | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000175282 CA201373 RCV000860615 VAR_062804 RCV001147192 rs199768782 RCV000987417 |
721 | P>S | Joubert syndrome 1 Joubert syndrome Meckel syndrome, type 6 JBTS9 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1718404801 RCV001318565 |
724 | L>I | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752814776 RCV001345188 CA2863863 |
728 | V>F | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA2863866 RCV001229206 rs372259202 RCV000730328 |
733 | G>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002541612 RCV001263410 CA356417011 rs1308459948 |
736 | S>C | Intellectual disability Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1560177991 RCV001855819 RCV000734798 CA356417024 |
737 | P>T | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001072004 rs1471484901 |
744 | F>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2863876 RCV000732284 rs377188181 RCV001427308 |
757 | A>D | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001046145 RCV000784927 rs751808973 CA2863888 RCV000784926 RCV000784928 |
775 | E>K | COACH syndrome 1 Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000765757 rs200764366 RCV000726192 CA2863889 RCV001150185 RCV001150184 RCV001150183 RCV001084783 |
776 | G>R | COACH syndrome 1 Joubert syndrome CC2D2A-Related Disorders Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001257276 rs1719093317 |
786 | E>K | Pituitary stalk interruption syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001370617 rs367560550 CA2863908 RCV000594189 |
796 | M>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs769808709 RCV000484999 RCV001337844 CA2863914 |
806 | A>V | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1719097213 RCV001318407 |
809 | I>V | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001148728 RCV001148729 RCV000817448 CA2863920 rs375167917 |
813 | G>R | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2863921 RCV001340454 RCV002546897 rs369305472 |
814 | I>T | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001223010 rs1719099728 |
818 | P>T | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209239 rs1719100127 |
819 | P>Q | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003159178 rs201946793 CA2863928 RCV001062778 |
826 | G>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001334751 RCV000402581 rs375243763 CA2863930 RCV001202071 |
828 | R>Q | COACH syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000593179 COSM1594297 RCV000390803 rs749997192 CA10618152 RCV001230920 RCV000337479 |
828 | R>W | Variant assessed as Somatic; 0.0 impact. Joubert syndrome endometrium Meckel syndrome, type 6 breast Joubert syndrome 9 [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001202139 rs765820512 RCV001150293 RCV001150292 CA2863951 |
839 | S>F | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001348148 CA2863953 RCV000597851 COSM1633506 rs373111926 |
840 | I>T | liver Joubert syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2863955 RCV000176170 RCV001852170 CA242048 rs376403848 |
848 | M>L | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001150295 RCV001150294 rs376403848 |
848 | M>V | Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1560180188 RCV001869170 RCV000785072 CA356420587 |
854 | W>* | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001337842 rs747204358 RCV000730827 CA2863957 RCV002485885 |
854 | W>G | Joubert syndrome Meckel syndrome, type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1719213816 RCV001351752 |
856 | A>E | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001344317 CA356420748 rs1376846940 |
865 | P>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA2863963 rs199563573 RCV002520218 RCV000762136 RCV001247603 RCV000324688 RCV000269616 RCV000363997 |
866 | N>S | Joubert syndrome CC2D2A-Related Disorders Meckel syndrome, type 6 Inborn genetic diseases Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA210272 rs200904521 RCV000201574 |
875 | S>* | Joubert syndrome 9 (jbts9) Joubert syndrome 9 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001144149 CA2863967 COSM1427503 RCV001316067 RCV001144150 RCV000765758 RCV000732739 rs200904521 |
875 | S>L | COACH syndrome 1 Joubert syndrome 9 (jbts9) Joubert syndrome large_intestine Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar, Ensembl, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001144151 rs541135799 RCV001144152 RCV003163320 CA2863986 RCV001369549 |
880 | G>D | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1719341621 RCV001233967 |
890 | L>R | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201758 rs863225178 CA279541 |
891 | E>K | Joubert syndrome 9 (jbts9) Variant assessed as Somatic; 0.0 impact. Joubert syndrome 9 [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA356412193 rs863225178 RCV001328044 |
891 | E>Q | Joubert syndrome 9 (jbts9) Nephronophthisis [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000763523 RCV000194720 rs764719093 CA209079 |
895 | Q>* | COACH syndrome 1 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs1553838206 RCV000636957 CA356412228 |
896 | E>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001880021 RCV001261566 rs781206278 CA2863997 RCV001558265 |
910 | R>* | Joubert syndrome Meckel syndrome, type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000284136 RCV000379227 RCV000320497 RCV001753820 CA2863998 rs368886216 RCV001315843 |
911 | F>L | CC2D2A-Related Disorders Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000335475 rs574421639 CA2863999 RCV000280607 RCV000375018 RCV001373467 |
912 | R>G | Joubert syndrome CC2D2A-Related Disorders Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA356412342 rs1471618183 RCV001226914 |
912 | R>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs386833748 RCV001753469 RCV000049712 RCV000778721 CA144217 RCV001853048 |
925 | R>* | Variant assessed as Somatic; 0.0 impact. Joubert syndrome CC2D2A-Related Disorders Meckel syndrome, type 6 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002251560 VAR_087118 CA2864003 RCV001207137 rs200707391 |
925 | R>P | Joubert syndrome (jbts) Joubert syndrome Retinitis pigmentosa 93 RP93 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001205249 CA2864001 COSM3714819 RCV000595851 rs200707391 |
925 | R>Q | Joubert syndrome (jbts) upper_aerodigestive_tract Joubert syndrome [Ensembl, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002531009 rs915290953 CA92510717 RCV001235207 RCV000598243 |
927 | Y>S | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002499450 CA2864005 rs563610095 RCV001880034 RCV002541585 |
935 | R>* | Joubert syndrome (jbts) Joubert syndrome Meckel syndrome, type 6 Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs187003641 RCV001146035 RCV001146036 RCV000176277 RCV000636974 CA150861 RCV001719852 RCV000114170 RCV000515156 |
935 | R>Q | COACH syndrome 1 Joubert syndrome Meckel syndrome, type 6 Meckel-Gruber syndrome Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs61740537 RCV000373113 RCV000440940 RCV001088602 CA2864006 |
938 | M>T | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs532411276 RCV001234866 CA2864022 |
948 | R>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM1566979 RCV001266487 CA114473 RCV000727257 RCV002512617 RCV000000781 rs118204053 |
950 | R>* | Joubert syndrome 9 (jbts9) Joubert syndrome large_intestine Inborn genetic diseases Joubert syndrome 9 [Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs779465688 RCV001297698 CA92511419 |
955 | I>T | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001506167 rs76626268 RCV001146038 CA2864026 RCV001146037 |
961 | I>T | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002531032 RCV000593471 CA2864027 RCV001854030 rs201631131 |
962 | D>G | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA356412838 RCV000592290 rs1273769297 RCV002532603 |
964 | H>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001043742 rs1369320518 CA356412914 |
968 | V>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001338157 rs1321218611 CA356413000 |
973 | Q>L | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2864042 RCV000765759 RCV002518042 rs150093365 RCV000321273 RCV001087972 |
982 | R>H | COACH syndrome 1 Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001349770 rs1719533280 |
995 | M>T | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239220 rs764874938 |
999 | E>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001809687 RCV000585193 RCV002497231 RCV001313276 rs764874938 RCV002530858 |
1000 | E>missing | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201775 rs773881370 RCV001853233 CA210338 |
1000 | E>V | Joubert syndrome (jbts) Joubert syndrome 9 (jbts9) Joubert syndrome Joubert syndrome 9 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2864048 RCV000591665 RCV001860202 rs376663620 |
1003 | N>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1719535877 RCV001040806 |
1005 | S>N | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211263 CA2864066 rs754619415 |
1006 | I>N | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000344416 RCV000350715 RCV001087622 rs373960465 CA338306 RCV000405623 RCV002227457 |
1016 | E>K | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA210269 RCV000201572 RCV000778722 rs370880399 RCV000702498 RCV000763524 RCV000489696 |
1019 | R>* | COACH syndrome 1 Joubert syndrome 9 (jbts9) Joubert syndrome (jbts) CC2D2A-Related Disorders Joubert syndrome Joubert syndrome 9 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2864069 RCV002541643 RCV001328045 rs746926711 |
1019 | R>Q | Nephronophthisis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs770896540 RCV001197276 COSM3392748 RCV001044866 CA2864070 |
1022 | R>Q | pancreas Joubert syndrome Joubert syndrome 9 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001361910 rs759702917 RCV000414440 CA2864072 |
1026 | K>E | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2864073 rs770004990 RCV001352080 |
1028 | R>W | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000294687 rs386833749 RCV000049713 RCV001060313 |
1029 | K>missing | Joubert syndrome Meckel syndrome, type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000727536 RCV001036260 rs376913682 CA2864077 |
1038 | D>V | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000714880 rs1560184664 RCV000714879 RCV000714878 |
1041 | I>missing | COACH syndrome 1 Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201741 rs863225173 VAR_076886 CA279522 |
1045 | V>A | Joubert syndrome 9 (jbts9) Joubert syndrome 9 JBTS9 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001344782 rs1473580177 |
1045 | V>M | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2864083 rs778559564 RCV001209873 |
1047 | I>T | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM1199753 RCV000578695 RCV000023922 RCV002476904 CA129544 rs386833750 RCV002251848 RCV000000783 RCV000199602 |
1049 | R>* | COACH syndrome 2 Joubert syndrome 9/15, digenic Joubert syndrome large_intestine Meckel syndrome, type 6 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs386833750 CA144221 RCV000049714 |
1049 | R>G | Meckel syndrome, type 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1055487228 CA356416209 RCV000689818 |
1052 | D>N | Joubert syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs148194457 RCV001235677 CA2864087 |
1053 | I>L | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs148194457 RCV002533080 RCV000820282 RCV000727678 CA2864086 |
1053 | I>V | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1719718448 RCV001207778 |
1054 | P>S | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1719718448 RCV001329601 |
1054 | P>T | COACH syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2864091 RCV001148827 RCV001148828 RCV000734050 RCV001309722 rs200034384 |
1059 | A>E | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000382150 RCV000269011 RCV000332267 rs886059181 RCV000733465 CA10620315 RCV001041421 |
1067 | S>L | Joubert syndrome CC2D2A-Related Disorders Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001250524 rs1719933188 |
1071 | R>missing | COACH syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1295889715 CA356417828 RCV001201692 |
1088 | H>P | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs763775613 RCV001144800 CA2864118 RCV001144799 |
1091 | D>V | Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000730793 RCV001052047 RCV002535171 CA2864120 rs200518703 |
1094 | L>V | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2864123 rs181260724 RCV001776140 RCV001202072 |
1095 | G>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_055321 RCV001234448 rs863225169 CA279501 RCV000201720 |
1096 | Q>H | Joubert syndrome 9 (jbts9) Joubert syndrome Joubert syndrome 9 JBTS9 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001257356 rs1719950579 |
1098 | L>* | Polycystic kidney disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760676442 RCV002489573 CA2864141 RCV001280749 RCV001041856 RCV002276597 |
1109 | R>* | Joubert syndrome (jbts) Joubert syndrome Meckel syndrome, type 6 Neurodevelopmental disorder [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA144225 COSM1319374 RCV001007916 rs386833752 RCV001539860 RCV002514252 RCV000049716 RCV000201581 VAR_062293 |
1114 | T>M | Joubert syndrome 9 (jbts9) Variant assessed as Somatic; 0.0 impact. Joubert syndrome Polydactyly Meckel syndrome, type 6 haematopoietic_and_lymphoid_tissue Joubert syndrome 9 MKS6 and JBTS9 [Ensembl, NCI-TCGA, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1725854 RCV000201781 RCV000000784 rs267606709 RCV001383566 CA210343 VAR_063804 RCV000729670 |
1116 | T>M | COACH syndrome 2 Joubert syndrome 9 (jbts9) Joubert syndrome (jbts) liver Joubert syndrome Joubert syndrome 9 COACH2 and JBTS9 [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA10617303 RCV002520219 RCV000335691 rs886059182 RCV000285312 |
1122 | P>R | Joubert syndrome Meckel-Gruber syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118204051 RCV000730543 RCV001329602 CA114469 VAR_055322 RCV000000779 RCV001851514 |
1122 | P>S | COACH syndrome 1 Joubert syndrome (jbts) Joubert syndrome 9 (jbts9) Joubert syndrome Joubert syndrome 9 JBTS9 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001360422 rs377404804 RCV000592034 CA2864147 |
1123 | S>N | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1473532901 VAR_068169 CA356419393 |
1126 | E>K | JBTS9 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
VAR_076887 rs863225170 CA279438 RCV000201640 |
1151 | V>A | Joubert syndrome 9 (jbts9) Joubert syndrome 9 JBTS9 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA2864189 RCV000366201 rs371998498 RCV000271633 |
1167 | D>N | Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000802664 rs375344007 CA2864192 RCV000727679 RCV002535048 |
1168 | R>H | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000114176 RCV001147661 RCV000535271 rs61734948 RCV001573865 CA150871 RCV001147660 |
1170 | R>K | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs386833754 RCV000049718 |
1175 | H>missing | Meckel syndrome, type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000377187 rs886059184 RCV000322514 CA10618158 |
1175 | H>R | Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001147663 RCV000152939 RCV001147662 rs371561652 CA233631 RCV001367361 |
1177 | R>C | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001378831 RCV001723639 VAR_075698 rs386833755 RCV000049719 CA144229 |
1182 | W>R | Joubert syndrome (jbts) Joubert syndrome Meckel syndrome, type 6 JBTS9 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA2864205 RCV000765761 RCV001081652 rs188891842 RCV002521992 RCV000263818 |
1193 | I>V | COACH syndrome 1 Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000049720 rs386833756 |
1195 | F>missing | Meckel syndrome, type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs982352950 RCV000778723 RCV001236760 |
1197 | A>missing | Joubert syndrome CC2D2A-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760918829 RCV001147664 RCV001059471 RCV000728362 RCV001266379 CA210331 RCV000201761 |
1199 | I>T | Joubert syndrome 9 (jbts9) Joubert syndrome (jbts) Joubert syndrome Meckel syndrome, type 6 Inborn genetic diseases Joubert syndrome 9 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001045177 CA356423614 rs1409153766 |
1204 | K>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000594362 rs765661601 CA2864219 RCV001312485 |
1215 | S>G | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001346545 rs765661601 |
1215 | S>R | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001383169 rs375278294 RCV000597765 CA10582215 COSM1427515 RCV000231966 |
1218 | R>* | Joubert syndrome (jbts) Joubert syndrome large_intestine [Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs892274416 RCV001343762 CA92519130 |
1224 | R>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000373501 rs369648324 RCV000323676 RCV002520221 RCV002520220 CA2864221 RCV000268647 COSM1199755 |
1224 | R>W | Variant assessed as Somatic; 0.0 impact. Joubert syndrome CC2D2A-Related Disorders large_intestine Meckel syndrome, type 6 Inborn genetic diseases Joubert syndrome 9 [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2864222 RCV000538346 rs778082588 |
1230 | R>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001315092 rs1720298896 |
1236 | S>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863225171 RCV001207358 RCV000201593 |
1250 | P>missing | Joubert syndrome Joubert syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2864225 RCV000705062 RCV000732007 RCV002493242 rs368180778 RCV002534428 |
1251 | G>R | Joubert syndrome Meckel syndrome, type 6 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001389255 RCV000201709 rs386833757 RCV000373656 RCV000049721 RCV001542749 |
1259 | E>* | COACH syndrome 1 Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000553262 rs759726075 CA2864236 |
1260 | S>F | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001040421 rs753246574 |
1269 | A>T | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1560192615 RCV000791023 CA356425860 |
1281 | F>L | Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA210258 COSM1594397 RCV000201552 rs779823379 VAR_076888 RCV001261604 RCV001853232 |
1284 | R>C | Joubert syndrome 9 (jbts9) Variant assessed as Somatic; 0.0 impact. Joubert syndrome endometrium Meckel syndrome, type 6 Joubert syndrome 9 JBTS9 [Ensembl, NCI-TCGA, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs754586025 RCV002537713 RCV001269213 CA2864244 VAR_076889 |
1284 | R>H | Variant assessed as Somatic; 0.0 impact. Joubert syndrome CC2D2A-Related Disorders JBTS9 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
rs1347377004 RCV001211102 CA356425986 |
1286 | C>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001081324 rs200427832 RCV000726978 CA2864250 RCV000765762 |
1290 | V>A | COACH syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000293449 CA205784 rs370492044 RCV001521745 RCV001697269 RCV000192749 RCV000348318 |
1291 | I>T | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000731357 RCV001144907 RCV001347194 RCV001151002 rs763466980 CA2864254 |
1295 | G>R | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000201723 rs763735590 |
1298 | V>missing | Joubert syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs386833758 RCV001853049 CA144234 RCV000049722 |
1298 | V>D | Joubert syndrome (jbts) Joubert syndrome Meckel syndrome, type 6 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001071661 rs1720595936 |
1310 | P>L | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001340118 RCV000487028 rs951039594 CA16618035 |
1329 | A>P | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs758036385 RCV000528326 CA2864283 |
1330 | R>* | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000201714 RCV001067961 RCV003144159 VAR_076890 rs763486732 CA210320 |
1330 | R>Q | Joubert syndrome 9 (jbts9) Joubert syndrome Joubert syndrome 9 JBTS9; unknown pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001261605 rs1720848250 |
1331 | Y>C | Meckel syndrome, type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1577396376 RCV000790463 |
1341 | T>missing | Joubert syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2864286 RCV001144908 RCV001144909 RCV001211994 rs745599580 |
1341 | T>S | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001343718 rs780313255 CA2864288 |
1350 | L>F | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001343518 rs749491270 CA2864289 |
1352 | S>N | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001046609 CA2864317 rs771460583 |
1356 | Q>R | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000793158 rs1313708855 |
1362 | A>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762683334 VAR_087303 RCV001000097 CA356428736 |
1363 | G>V | Meckel syndrome, type 6 MKS6; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD UniProt |
|
RCV000407949 CA2864321 rs557038070 RCV001861227 RCV000344976 |
1366 | E>D | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002518409 rs794729225 RCV000987418 RCV000624610 |
1367 | E>missing | Joubert syndrome 1 Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1271963891 RCV000697152 CA356429096 |
1380 | G>D | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1258451179 RCV001348381 CA356429408 |
1393 | E>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA2864351 RCV000864851 RCV000310019 rs143947747 RCV000364646 RCV001252766 |
1401 | T>S | Joubert syndrome Meckel syndrome, type 6 Microcephaly Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1720998794 RCV001308805 |
1402 | W>C | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201617 rs863225176 CA279416 |
1409 | I>T | Joubert syndrome 9 (jbts9) Joubert syndrome 9 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1721000269 RCV001229109 |
1411 | N>K | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001146866 CA2864358 RCV001755983 RCV001474086 RCV001146865 RCV000593757 rs146843542 |
1413 | C>Y | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_076891 RCV000201598 CA279397 rs863225168 |
1430 | V>A | Joubert syndrome 9 (jbts9) Joubert syndrome 9 JBTS9 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs56265649 CA2864365 RCV002067124 RCV000731769 |
1435 | G>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs113065116 RCV000592379 COSM3696508 CA2864377 RCV001326524 |
1445 | R>Q | Variant assessed as Somatic; 0.0 impact. Joubert syndrome large_intestine breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA129547 RCV001852033 rs387907058 RCV000023923 VAR_067535 RCV000594523 |
1447 | E>A | Joubert syndrome Joubert syndrome 9/15, digenic JBTS9; digenic inheritance; the patient also carries mutation C-360 in CEP41 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000526821 CA2864379 rs375410796 |
1449 | P>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA150879 RCV000114180 rs368720062 RCV002284363 |
1462 | W>R | Meckel-Gruber syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs587779732 RCV000114181 RCV001854529 CA150882 CA92534312 |
1469 | S>R | Joubert syndrome Meckel-Gruber syndrome [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA10582216 rs878854168 RCV000227781 |
1479 | Q>H | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000263343 CA10620316 rs886059185 RCV000353561 |
1481 | E>A | Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000385807 RCV000229439 RCV000318552 RCV000319463 CA2864389 rs186486235 |
1487 | R>C | Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000732101 RCV001364261 CA92535035 rs971832306 |
1487 | R>H | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs797045437 RCV000687812 RCV000193046 RCV000627446 |
1489 | D>missing | Joubert syndrome Joubert syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553845300 CA356432293 RCV000626104 |
1495 | E>* | COACH syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863225179 RCV000201637 CA279430 |
1497 | Q>H | Joubert syndrome 9 (jbts9) Joubert syndrome 9 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2864407 RCV001231077 rs760863691 |
1509 | M>T | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003142100 RCV001175193 rs1721483506 |
1511 | W>R | Meckel syndrome, type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2864411 RCV000698859 RCV000734402 rs368191427 |
1514 | R>H | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000821855 CA356433891 rs780673487 |
1517 | T>I | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001865279 CA16042485 RCV000414427 VAR_077560 rs780673487 |
1517 | T>S | Joubert syndrome (jbts) Joubert syndrome MKS6; unknown pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000728777 rs200645738 RCV001245116 CA2864415 |
1518 | R>Q | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs767260373 COSM1594393 RCV000984486 CA2864414 RCV000703032 |
1518 | R>W | Variant assessed as Somatic; 0.0 impact. Joubert syndrome endometrium Joubert syndrome 9 [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1577406415 CA356433914 RCV001000096 VAR_087304 |
1519 | W>G | Meckel syndrome, type 6 MKS6; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV001261606 rs1577406415 |
1519 | W>R | Meckel syndrome, type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356433944 rs1478902342 VAR_069045 |
1520 | N>S | JBTS9 [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
rs118204052 CA114471 RCV000000780 VAR_055323 RCV000445290 RCV001269034 |
1528 | R>C | COACH syndrome 2 Joubert syndrome 9 (jbts9) Variant assessed as Somatic; 0.0 impact. Joubert syndrome 9 JBTS9 and COACH2 [ClinVar, Ensembl, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003106045 rs886940102 RCV000733512 CA92536417 RCV003155300 |
1528 | R>H | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs794729226 RCV000987419 RCV002519818 |
1533 | L>missing | Joubert syndrome 1 Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA210287 RCV000541700 RCV000201634 rs778858648 |
1534 | L>V | Joubert syndrome 9 (jbts9) Joubert syndrome Joubert syndrome 9 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001337954 VAR_055324 rs763425007 CA2864430 |
1551 | L>P | Joubert syndrome JBTS9 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000382357 CA2864433 RCV000596953 RCV000332518 RCV002520222 rs375083236 RCV000296093 |
1553 | Q>H | CC2D2A-Related Disorders Joubert syndrome Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001337799 rs1721493626 |
1556 | D>H | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201706 CA210318 RCV000287733 rs201502401 RCV002277554 RCV000778102 RCV000474430 VAR_062806 RCV000286210 RCV001266486 RCV001542750 RCV000347415 |
1556 | D>V | COACH syndrome 1 Joubert syndrome 9 (jbts9) Joubert syndrome (jbts) Joubert syndrome CC2D2A-Related Disorders Neurodevelopmental disorder Meckel-Gruber syndrome Inborn genetic diseases Joubert syndrome 9 JBTS9 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553845917 RCV000554017 |
1562 | F>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000404422 RCV000354109 CA10620349 rs886059186 RCV000300518 |
1563 | P>L | CC2D2A-Related Disorders Meckel syndrome, type 6 Joubert syndrome 9 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1441082551 RCV001233914 CA356435992 |
1564 | L>F | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002543588 RCV001312038 rs762773515 CA2864460 |
1566 | M>T | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_069046 | 1568 | Y>H | JBTS9 [UniProt] | Yes | UniProt |
|
RCV001053315 RCV002496867 rs199695154 CA2864468 RCV000479727 RCV002525868 |
1577 | A>T | Joubert syndrome Meckel syndrome, type 6 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA279482 RCV000201684 rs863225174 |
1581 | T>A | Joubert syndrome 9 (jbts9) Joubert syndrome 9 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1721586115 RCV001296802 |
1583 | V>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371196379 RCV001203939 CA2864473 |
1583 | V>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs572716623 RCV001247734 CA2864476 |
1588 | V>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs749398663 CA2864482 RCV001266380 |
1596 | A>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2864487 RCV001352404 rs368070611 |
1612 | Y>C | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV002518873 rs769264337 CA2864489 RCV000269980 |
1613 | V>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001041543 rs863225175 RCV001200280 RCV000201615 |
1615 | S>missing | Joubert syndrome Joubert syndrome 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001753692 RCV001329603 RCV000233494 rs201219078 RCV000765763 CA2864491 COSM3357784 |
1618 | R>C | COACH syndrome 1 Variant assessed as Somatic; 0.0 impact. Joubert syndrome haematopoietic_and_lymphoid_tissue Joubert syndrome 9 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201219078 RCV001228131 |
1618 | R>S | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1210307395 CA356406961 |
2 | N>S | No |
ClinGen gnomAD |
|
|
rs769732166 CA2863235 |
7 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs775221544 CA2863236 |
8 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356407025 rs1560386272 |
11 | I>M | No |
ClinGen Ensembl |
|
|
rs1448573841 CA356407030 |
12 | T>R | No |
ClinGen gnomAD |
|
|
CA92514175 rs986775771 |
13 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1411267956 CA356407054 |
14 | E>A | No |
ClinGen gnomAD |
|
|
rs755345164 CA2863247 |
19 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577309042 RCV001008245 |
21 | D>missing | No |
ClinVar dbSNP |
|
|
rs1333338050 CA356407117 |
22 | A>G | No |
ClinGen gnomAD |
|
|
CA356407113 rs1396375508 |
22 | A>T | No |
ClinGen gnomAD |
|
|
rs1397575290 CA356407120 |
23 | D>N | No |
ClinGen gnomAD |
|
|
CA2863248 rs763786765 |
24 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 26 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1411525644 CA356407151 |
27 | Q>R | No |
ClinGen gnomAD |
|
|
CA2863249 rs751235309 |
28 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1236305066 CA356407172 |
30 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs530243571 CA2863250 |
30 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2863251 rs780506478 |
31 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1327166509 CA356407194 |
33 | V>A | No |
ClinGen TOPMed |
|
|
rs745409806 CA2863252 |
33 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs745409806 CA356407191 |
33 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA16603252 RCV000423378 rs896947430 COSM1052279 |
34 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs756008877 CA2863253 RCV000593659 |
34 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA92515919 rs993841192 |
35 | R>I | No |
ClinGen gnomAD |
|
|
rs1175527773 CA356407219 |
38 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 38 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753264367 CA92515935 |
40 | K>* | No |
ClinGen gnomAD |
|
|
rs753264367 CA92515931 |
40 | K>Q | No |
ClinGen gnomAD |
|
|
CA356407236 rs780010340 |
40 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2863255 rs780010340 |
40 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356407488 rs1288553295 |
42 | P>Q | No |
ClinGen TOPMed |
|
|
CA356407504 rs1195835630 |
44 | T>A | No |
ClinGen TOPMed |
|
|
CA356407507 rs1343644771 |
44 | T>S | No |
ClinGen TOPMed |
|
|
rs1046633410 CA92517280 |
45 | A>T | No |
ClinGen Ensembl |
|
|
CA356407532 rs1413413811 |
47 | P>R | No |
ClinGen gnomAD |
|
|
rs1329897504 CA356407546 |
49 | E>K | No |
ClinGen gnomAD |
|
|
CA356407559 rs765810643 |
50 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2863293 rs375163284 |
51 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754822814 CA2863294 |
52 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1342891431 CA356407597 |
55 | S>F | No |
ClinGen gnomAD |
|
|
rs1577311964 CA356407604 |
56 | H>P | No |
ClinGen Ensembl |
|
|
RCV000485652 rs1064793618 |
59 | N>missing | No |
ClinVar dbSNP |
|
|
rs566035797 CA2863298 |
60 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566035797 CA356407639 |
60 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356407636 rs1472622163 |
60 | P>S | No |
ClinGen gnomAD |
|
|
CA92517316 rs1033352936 |
61 | Q>L | No |
ClinGen TOPMed |
|
|
rs1176350688 CA356407671 |
64 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2863302 rs770174116 |
67 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA356407701 rs1351707020 |
68 | P>T | No |
ClinGen gnomAD |
|
|
CA92517368 rs61999352 |
71 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA92517369 rs892866184 |
71 | R>H | No |
ClinGen gnomAD |
|
|
CA2863303 rs776118002 |
72 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1011346803 CA92517382 |
75 | M>K | No |
ClinGen Ensembl |
|
|
CA356407770 rs1279922150 |
76 | T>A | No |
ClinGen gnomAD |
|
|
rs763217680 CA2863304 |
77 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs762718210 CA2863306 |
78 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2863305 rs769077754 |
78 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs148348460 CA2863307 |
79 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs527974001 CA92517401 |
82 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2863309 rs753247809 |
82 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356407825 rs1342007847 |
83 | S>G | No |
ClinGen TOPMed |
|
|
rs866573318 CA92504558 |
88 | P>L | No |
ClinGen Ensembl |
|
|
rs773451687 CA2863356 |
89 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2863357 rs745465296 |
91 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs886043867 CA10606053 RCV000283515 |
92 | R>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA356408096 rs1342506197 |
92 | R>I | No |
ClinGen TOPMed |
|
|
CA356408106 rs1435144536 |
94 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356408105 rs1435144536 |
94 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs762588216 CA2863361 |
98 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1236373020 CA356408143 |
99 | S>F | No |
ClinGen gnomAD |
|
|
rs764096982 CA2863362 |
99 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2863363 rs370014549 |
100 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761699527 CA2863364 |
100 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs767278928 CA2863365 |
101 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1278804341 CA356408158 |
102 | G>R | No |
ClinGen gnomAD |
|
|
CA356408161 rs373765548 |
102 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367699902 CA92504617 |
103 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2863367 rs566281691 |
103 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2863368 rs566281691 |
103 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356408167 rs1417432386 |
104 | M>V | No |
ClinGen gnomAD |
|
|
CA2863370 rs755107436 |
109 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA356408213 rs1577329775 |
110 | A>V | No |
ClinGen Ensembl |
|
|
CA2863390 rs765241815 |
116 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214212437 CA356408273 |
118 | A>T | No |
ClinGen TOPMed |
|
|
rs767331450 CA2863391 |
119 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs751926370 CA2863392 |
122 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1043546970 CA92504862 |
123 | I>S | No |
ClinGen TOPMed |
|
|
CA356408321 rs1553824103 |
125 | T>S | No |
ClinGen Ensembl |
|
|
CA2863394 rs145945939 |
127 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs768439693 CA2863396 |
128 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA356408354 rs377177061 |
132 | R>G | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA356408356 rs772016081 |
132 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773073084 CA2863399 |
134 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA356408371 rs1431922490 |
135 | S>G | No |
ClinGen gnomAD |
|
|
rs760513186 CA2863400 |
135 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2863402 rs770645719 |
137 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2863404 rs570078140 |
139 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356408407 rs1354867156 |
140 | E>Q | No |
ClinGen gnomAD |
|
|
CA356408415 rs1231583669 |
141 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1577330157 CA356408447 |
145 | T>I | No |
ClinGen Ensembl |
|
|
CA92509149 rs187148400 |
153 | R>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1208661421 CA356408532 |
156 | Q>E | No |
ClinGen gnomAD |
|
|
CA2863420 rs777341305 |
161 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs911542623 CA356408598 |
165 | R>I | No |
ClinGen TOPMed |
|
|
rs911542623 CA92509156 |
165 | R>K | No |
ClinGen TOPMed |
|
|
rs911542623 CA356408599 |
165 | R>T | No |
ClinGen TOPMed |
|
|
rs1176241225 CA356408608 |
167 | K>Q | No |
ClinGen gnomAD |
|
|
CA356408635 rs1174732662 |
170 | D>G | No |
ClinGen gnomAD |
|
|
rs1433346191 CA356408661 |
174 | K>N | No |
ClinGen gnomAD |
|
|
rs769979040 CA2863423 |
175 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA356408693 rs1355157477 |
179 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1355157477 CA356408694 |
179 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2863424 rs201715738 |
179 | P>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs1336343256 CA356408722 COSM1052283 |
182 | P>S | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1441186833 CA356408728 |
183 | P>H | No |
ClinGen TOPMed |
|
|
rs769640727 CA2863439 |
183 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2863440 rs369902469 |
184 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2863441 rs369902469 |
184 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1450223928 CA356408745 |
186 | P>S | No |
ClinGen gnomAD |
|
|
CA2863442 rs768949293 |
187 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2863444 rs762024789 |
189 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1560157691 RCV000785075 CA356408759 |
189 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs372575726 CA2863445 |
191 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1420064778 CA356408779 |
192 | Y>N | No |
ClinGen gnomAD |
|
| TCGA novel | 194 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356408815 rs1403390685 |
196 | T>S | No |
ClinGen gnomAD |
|
|
rs200761243 CA2863447 |
197 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553825924 CA356408832 |
199 | F>L | No |
ClinGen Ensembl |
|
|
rs1326820815 CA356408835 |
199 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356408851 rs1560157734 |
201 | P>R | No |
ClinGen Ensembl |
|
|
rs762472063 CA2863448 |
202 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs952983586 CA92509938 |
204 | E>K | No |
ClinGen Ensembl |
|
|
CA356408877 rs1233425104 |
205 | G>A | No |
ClinGen gnomAD |
|
|
CA2863450 rs751044118 |
206 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA356408886 rs1157984276 |
207 | E>A | No |
ClinGen TOPMed |
|
|
CA2863451 rs756813680 |
208 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2863452 rs781100427 |
210 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1206540451 CA356408908 |
210 | P>S | No |
ClinGen gnomAD |
|
|
CA92509956 rs965986708 |
212 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356408923 rs1577336727 |
212 | A>V | No |
ClinGen Ensembl |
|
|
rs972414579 CA92509966 |
214 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
RCV000180553 rs756061892 CA248033 |
215 | R>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA2863454 rs756061892 |
215 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA2863455 rs756061892 |
215 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs539372200 CA2863456 |
216 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356408946 rs1254734666 |
217 | G>R | No |
ClinGen gnomAD |
|
|
CA356408990 rs1471249662 |
223 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 226 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468724283 CA356409036 |
229 | E>K | No |
ClinGen Ensembl |
|
|
COSM1594312 rs1385360123 CA356409051 |
231 | P>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs779245267 CA2863459 |
232 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA92510034 rs556965041 |
233 | Q>R | No |
ClinGen Ensembl |
|
|
CA2863460 rs553259615 |
234 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356409073 rs1226708664 |
235 | G>R | No |
ClinGen TOPMed |
|
|
CA2863462 rs773437112 |
236 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2863461 rs772346048 |
236 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2863463 rs761213221 |
238 | E>* | No |
ClinGen ExAC |
|
|
rs1338213077 CA356409101 |
239 | M>T | No |
ClinGen gnomAD |
|
|
rs758784439 CA92510052 |
239 | M>V | No |
ClinGen Ensembl |
|
|
rs772444906 CA2863479 |
240 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA356409130 rs1373541472 |
242 | E>K | No |
ClinGen gnomAD |
|
|
CA92512039 rs974146803 |
244 | L>R | No |
ClinGen Ensembl |
|
|
CA2863482 rs777249531 |
245 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746210662 CA2863483 |
247 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA356409172 rs1408944585 |
248 | D>G | No |
ClinGen TOPMed |
|
|
CA356409169 rs1195755333 |
248 | D>Y | No |
ClinGen gnomAD |
|
|
CA2863485 rs770127559 |
249 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2863484 rs770127559 |
249 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2863490 rs374554530 |
251 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2863491 rs753882732 |
251 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA356409199 rs1167927165 |
252 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 254 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs981848455 CA92512088 |
256 | G>S | No |
ClinGen Ensembl |
|
|
rs1414769960 CA356409235 |
258 | D>A | No |
ClinGen TOPMed |
|
|
CA2863493 rs765073945 |
258 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA356409251 rs1440700780 |
260 | V>A | No |
ClinGen gnomAD |
|
|
rs918403472 CA92512094 |
260 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs758661538 CA2863494 |
262 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA356409304 rs1316175999 |
268 | R>S | No |
ClinGen gnomAD |
|
|
rs1250782505 CA356409302 |
268 | R>T | No |
ClinGen gnomAD |
|
|
rs1440831612 CA356409307 |
269 | P>S | No |
ClinGen TOPMed |
|
|
CA356409312 rs1560159771 |
270 | A>T | No |
ClinGen Ensembl |
|
|
CA356409317 rs1215752068 |
270 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757419793 CA2863497 |
271 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1331174612 CA356409352 |
275 | I>T | No |
ClinGen TOPMed |
|
|
CA2863498 rs368471984 |
275 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356409357 rs1190474273 |
276 | H>Y | No |
ClinGen gnomAD |
|
|
rs1463645221 CA356409381 |
280 | Q>* | No |
ClinGen gnomAD |
|
|
CA2863503 rs771902525 |
281 | M>T | No |
ClinGen ExAC |
|
|
rs760099299 CA2863504 |
282 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201649290 CA92512152 |
283 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356409422 CA92512153 rs367838364 |
285 | M>I | No |
ClinGen ESP gnomAD |
|
|
CA2863506 rs776020343 |
286 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217943247 CA356409443 |
288 | I>M | No |
ClinGen gnomAD |
|
|
rs371405756 CA2863507 |
289 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356409450 rs1553826739 RCV000584917 |
290 | S>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1318432524 CA356409454 |
290 | S>I | No |
ClinGen TOPMed |
|
|
rs1318432524 CA356409452 |
290 | S>N | No |
ClinGen TOPMed |
|
|
rs1212959308 CA356409516 |
298 | K>* | No |
ClinGen gnomAD |
|
|
rs779150444 CA2863520 |
300 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779150444 CA356409531 |
300 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356409536 rs1179726773 |
301 | P>S | No |
ClinGen gnomAD |
|
|
rs1409783751 CA356409541 |
302 | E>K | No |
ClinGen gnomAD |
|
|
CA356409546 rs1159122336 |
302 | E>V | No |
ClinGen gnomAD |
|
|
CA92512863 rs1034143131 |
304 | V>I | No |
ClinGen TOPMed |
|
|
CA92512864 rs958525393 |
305 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs201465430 CA356409583 |
308 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA92512866 rs1002716917 |
309 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs375247004 CA2863522 |
311 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356409628 rs1300108733 |
315 | Y>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 318 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057024311 CA92512910 |
318 | V>I | No |
ClinGen Ensembl |
|
|
rs1311089671 CA356409667 |
321 | E>G | No |
ClinGen gnomAD |
|
|
rs1281011314 CA356409663 |
321 | E>K | No |
ClinGen gnomAD |
|
|
CA92512923 rs1010349592 |
322 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA356409676 rs1480722039 |
323 | A>T | No |
ClinGen gnomAD |
|
|
CA92512943 rs113371687 |
324 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413268305 CA356409697 |
326 | N>K | No |
ClinGen gnomAD |
|
|
CA356409728 rs1414657962 |
330 | M>I | No |
ClinGen TOPMed |
|
|
CA356409725 rs1553826997 |
330 | M>T | No |
ClinGen Ensembl |
|
|
rs954758606 CA92512952 |
331 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs954758606 CA356409731 |
331 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs756248071 CA2863533 |
332 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 334 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356409765 rs1374354926 |
336 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA92512974 rs986611112 |
337 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs867163730 CA356409777 |
337 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs867163730 COSM1594308 CA92512969 |
337 | Q>R | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
RCV000174035 rs797044636 |
340 | E>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 342 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 347 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753091095 CA2863554 |
348 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534516025 CA2863555 |
350 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778199979 CA2863556 |
351 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1577341202 CA356409907 |
355 | N>T | No |
ClinGen Ensembl |
|
|
rs755850639 CA2863558 |
356 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2863559 rs779669288 |
357 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356409920 rs779669288 |
357 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA92513491 rs1043314992 |
359 | P>L | No |
ClinGen Ensembl |
|
|
rs1361167507 CA356409936 |
360 | F>L | No |
ClinGen gnomAD |
|
|
rs1295754658 CA356409948 |
361 | P>L | No |
ClinGen gnomAD |
|
|
CA356409955 rs1459134590 |
363 | R>G | No |
ClinGen TOPMed |
|
|
rs932081561 CA92513500 |
363 | R>S | No |
ClinGen Ensembl |
|
|
CA2863561 rs768618373 |
364 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA356409964 rs768618373 |
364 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261483576 CA356409975 |
366 | V>A | No |
ClinGen TOPMed |
|
|
CA92513526 rs1050434384 |
368 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 368 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 370 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766621518 CA2863566 |
373 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs368685422 CA2863567 |
374 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1414201390 CA356410035 |
375 | A>G | No |
ClinGen gnomAD |
|
|
CA356410039 rs897966226 |
376 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA92513535 rs765768907 |
376 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765768907 CA2863569 |
376 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2863570 rs758953643 |
377 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA356410063 rs1160020796 |
380 | L>P | No |
ClinGen gnomAD |
|
|
rs1173083947 CA356410104 |
384 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 386 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356410117 rs1465310812 |
386 | K>R | No |
ClinGen gnomAD |
|
|
rs1330366492 CA356410122 |
387 | Y>H | No |
ClinGen gnomAD |
|
|
rs115924432 CA356410129 |
388 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2863610 rs757937892 |
391 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576580119 CA2863611 |
393 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2863613 rs767935115 |
395 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318226093 CA356410196 |
397 | S>F | No |
ClinGen gnomAD |
|
|
rs200429882 CA356410201 |
398 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA92524364 rs1019784141 |
399 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA92524368 rs759074579 |
400 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2863615 rs759074579 |
400 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487791181 CA356410253 |
406 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA356410261 rs1434489507 |
407 | D>E | No |
ClinGen gnomAD |
|
|
CA356410268 rs1424402208 |
408 | I>M | No |
ClinGen gnomAD |
|
|
rs1477642319 CA356410281 |
410 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA356410285 rs1168745126 |
411 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2863618 rs757990480 |
413 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2863619 rs777266288 |
415 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA92524406 rs898835616 |
416 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA356410316 rs1349293529 |
416 | T>P | No |
ClinGen gnomAD |
|
|
rs1340560717 CA356410326 |
417 | H>L | No |
ClinGen gnomAD |
|
|
CA356410323 rs1299551025 |
417 | H>Y | No |
ClinGen gnomAD |
|
|
CA92524411 rs975608880 |
419 | P>T | No |
ClinGen TOPMed |
|
|
rs751436798 CA2863620 |
420 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA356410367 rs780924556 |
423 | R>L | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2863623 COSM3129000 rs780924556 |
423 | R>Q | Joubert syndrome (jbts) pancreas [Ensembl, Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2863625 rs372029263 |
424 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2863626 rs372029263 |
424 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA92524474 rs953011440 |
425 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs953011440 CA356410374 |
425 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA92524490 rs906485090 |
427 | L>S | No |
ClinGen Ensembl |
|
| TCGA novel | 427 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473245949 CA356410404 |
429 | A>D | No |
ClinGen gnomAD |
|
|
rs1163682192 CA356410406 |
430 | K>E | No |
ClinGen gnomAD |
|
|
CA2863628 rs768790706 |
430 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2863629 rs774587444 |
432 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs1381362481 CA356410422 |
433 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs762365881 CA2863630 |
433 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1360628707 CA356410437 |
435 | Y>H | No |
ClinGen gnomAD |
|
|
rs1171025712 CA356410439 |
435 | Y>S | No |
ClinGen TOPMed |
|
|
rs1453493262 CA356410445 COSM1133716 |
436 | D>N | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs180987891 CA2863631 |
436 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1315611314 CA356410453 |
437 | Q>* | No |
ClinGen gnomAD |
|
|
rs940437696 CA92524553 |
438 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA240048 rs773421101 RCV000174503 |
442 | H>Y | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA356410494 rs1357694170 |
443 | Q>* | No |
ClinGen gnomAD |
|
|
rs761152992 CA2863632 |
444 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA2863633 rs764790354 |
447 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 449 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 452 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356410554 rs1443260159 |
452 | D>N | No |
ClinGen gnomAD |
|
|
CA356410564 rs1187063113 |
453 | K>E | No |
ClinGen gnomAD |
|
|
rs751099723 CA2863637 |
453 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2863636 rs763542166 |
453 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA92525304 rs868776328 |
454 | L>F | No |
ClinGen gnomAD |
|
|
CA92525297 rs868776328 |
454 | L>I | No |
ClinGen gnomAD |
|
|
RCV000493964 rs1131691659 CA356410600 |
457 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM84850 rs989319751 CA92525309 |
457 | L>F | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs761369067 CA2863655 RCV000730591 |
460 | A>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA92525319 rs913798130 |
460 | A>V | No |
ClinGen TOPMed |
|
|
rs767353133 CA2863656 |
462 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs746180438 CA92525325 |
463 | T>S | No |
ClinGen gnomAD |
|
|
CA356410641 rs1399985089 RCV000732702 |
464 | G>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA2863659 rs377558745 |
468 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2863658 rs377558745 |
468 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370978967 CA2863660 |
470 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA240272 rs373177807 RCV000174701 |
473 | S>F | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
rs1232533510 CA356410703 |
473 | S>P | No |
ClinGen gnomAD |
|
|
CA2863664 rs748228512 |
475 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs779330548 CA356410713 |
475 | D>H | No |
ClinGen ExAC TOPMed |
|
|
rs779330548 CA2863662 |
475 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA2863665 rs777726035 |
476 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194019798 CA356410748 |
480 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 480 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771368085 CA2863667 |
481 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs777022662 CA2863668 |
482 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1577350882 CA356410762 |
482 | N>S | No |
ClinGen Ensembl |
|
|
rs200605436 CA92525408 |
483 | E>D | No |
ClinGen gnomAD |
|
|
CA356410766 rs1489277186 |
483 | E>K | No |
ClinGen gnomAD |
|
|
CA2863669 rs746279803 |
484 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356410777 rs746279803 |
484 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372889579 CA356410791 |
486 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2863671 rs774055235 |
486 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1372889579 CA356410790 |
486 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs868723216 CA92525426 |
487 | E>V | No |
ClinGen Ensembl |
|
|
CA2863674 rs145678228 |
489 | R>* | Joubert syndrome (jbts) Variant assessed as Somatic; 0.0 impact. [Ensembl, NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1288358527 CA356410822 RCV000784925 |
490 | Q>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA356410824 rs1288358527 |
490 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1360208683 CA356410827 |
490 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356410869 rs1367877887 |
496 | D>E | No |
ClinGen TOPMed |
|
|
rs1560169228 CA356410918 |
503 | R>K | No |
ClinGen Ensembl |
|
|
CA2863701 rs752566751 |
506 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1259612167 CA356410940 |
506 | L>R | No |
ClinGen gnomAD |
|
|
TCGA novel CA356410946 rs1560169249 |
507 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1270428820 CA356410956 |
509 | I>T | No |
ClinGen TOPMed |
|
|
rs764271571 CA2863702 |
509 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA356410964 rs1332061282 |
510 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA356410982 rs386833746 |
513 | W>G | No |
ClinGen TOPMed |
|
|
rs750873930 CA2863706 |
520 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs756638247 CA2863707 |
521 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1303592909 CA356411046 |
522 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2863708 rs780356460 |
523 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356411075 rs1312634523 |
526 | T>K | No |
ClinGen gnomAD |
|
|
CA2863712 rs746526651 |
536 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs762714528 CA2863719 |
537 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA356411158 rs1370546657 |
537 | E>K | No |
ClinGen gnomAD |
|
|
rs770548028 CA92530575 |
538 | K>N | No |
ClinGen Ensembl |
|
|
CA356411176 rs1358808099 |
539 | A>G | No |
ClinGen TOPMed |
|
|
CA356411183 rs1283352985 |
540 | D>G | No |
ClinGen gnomAD |
|
|
rs764371197 CA2863720 |
541 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1553832449 CA2863721 |
544 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 544 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2863724 rs762110881 |
546 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 547 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199997702 CA356411236 |
548 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs368788560 CA2863725 |
549 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750533406 CA2863726 |
550 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756583141 CA2863727 |
551 | E>* | No |
ClinGen ExAC gnomAD |
|
|
RCV000732432 rs773740057 |
555 | E>* | No |
ClinVar dbSNP |
|
|
CA356411291 rs1428654313 |
556 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356411300 rs1479599144 |
557 | S>N | No |
ClinGen gnomAD |
|
|
rs766924214 CA2863729 |
558 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA92530621 rs1008514114 |
562 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2863731 rs779343460 |
564 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2863733 rs201954181 |
564 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754175491 CA92530683 |
565 | E>D | No |
ClinGen gnomAD |
|
|
rs780814559 CA356411356 RCV000734211 |
566 | E>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA92530704 rs370998885 |
566 | E>D | No |
ClinGen Ensembl |
|
|
rs780814559 CA2863734 |
566 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2863735 COSM3365532 rs376562389 |
567 | Y>H | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 569 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356411393 rs1223834316 |
571 | M>T | No |
ClinGen gnomAD |
|
|
CA2863738 rs749251533 |
571 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs768277071 CA2863740 |
574 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2863742 rs767766478 |
576 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs754234090 CA2863746 |
578 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs765476291 CA2863748 |
581 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1364422887 CA356411473 |
582 | K>N | No |
ClinGen gnomAD |
|
|
rs1577357463 CA356411476 |
583 | A>T | No |
ClinGen Ensembl |
|
|
CA356411486 rs1467320427 |
584 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs753143836 CA2863749 |
587 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1422143551 CA356411503 |
587 | V>M | No |
ClinGen gnomAD |
|
|
rs116358011 CA356411508 |
588 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA92530803 rs116358011 |
588 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1280243907 CA356411532 |
590 | A>T | No |
ClinGen gnomAD |
|
|
CA356411537 rs1349982161 |
590 | A>V | No |
ClinGen gnomAD |
|
|
rs1183848566 CA356411596 |
598 | A>V | No |
ClinGen gnomAD |
|
|
rs755852655 CA2863768 |
600 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1469975894 CA356411611 |
601 | E>* | No |
ClinGen gnomAD |
|
|
rs754849336 CA2863771 |
602 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA92531409 rs867941370 |
603 | P>L | No |
ClinGen Ensembl |
|
|
CA92531416 rs747935651 |
604 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777560300 CA2863775 |
606 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759716328 CA2863779 |
608 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1223096588 CA356411653 |
608 | A>T | No |
ClinGen gnomAD |
|
|
rs1459773246 CA356411659 |
609 | E>K | No |
ClinGen gnomAD |
|
|
CA92531476 rs777780535 |
611 | Y>C | No |
ClinGen Ensembl |
|
|
rs189132953 CA356411679 |
612 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA92531480 rs189132953 |
612 | P>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs752004592 CA2863783 |
616 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560171700 RCV000728544 CA356411707 |
616 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs760215716 CA2863784 |
620 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753274560 CA356411741 |
621 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2863786 rs753274560 |
621 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356411747 rs1346184130 |
622 | P>L | No |
ClinGen gnomAD |
|
|
rs1404590778 CA356411748 |
623 | E>K | No |
ClinGen gnomAD |
|
|
CA92531545 rs947493633 |
624 | P>L | No |
ClinGen TOPMed |
|
|
rs903322036 CA92531560 |
626 | D>A | No |
ClinGen TOPMed |
|
|
rs778295396 CA2863788 |
627 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229418241 CA356411778 |
628 | A>S | No |
ClinGen gnomAD |
|
|
rs1306872313 CA356411783 |
629 | V>M | No |
ClinGen TOPMed |
|
|
rs541499456 CA2863790 |
630 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 631 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356411811 rs1418947124 |
633 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs886042809 RCV000269941 CA10604709 |
633 | E>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1418947124 COSM1143509 CA356411810 |
633 | E>Q | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA356411816 rs1193965268 |
634 | V>M | No |
ClinGen gnomAD |
|
|
rs746851951 CA2863792 |
636 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2863793 rs561944265 |
637 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2863794 rs781540923 |
637 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA356411838 rs561944265 |
637 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746081774 CA2863795 |
638 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1560171794 CA356411851 |
639 | A>V | No |
ClinGen Ensembl |
|
|
rs1464620968 CA356411870 |
642 | R>K | No |
ClinGen TOPMed |
|
|
CA356411873 rs1377431029 |
642 | R>S | No |
ClinGen TOPMed |
|
|
rs1194404460 CA356411877 |
643 | R>K | No |
ClinGen gnomAD |
|
|
CA356411888 RCV000734546 rs1560171818 |
644 | R>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA356411901 rs1165964489 |
646 | W>* | No |
ClinGen gnomAD |
|
|
rs1460942877 CA356411898 |
646 | W>* | No |
ClinGen gnomAD |
|
|
rs1460942877 CA356411899 |
646 | W>S | No |
ClinGen gnomAD |
|
|
rs1366284618 CA356411911 |
647 | E>D | No |
ClinGen gnomAD |
|
|
CA356411913 rs1424173115 |
648 | P>A | No |
ClinGen gnomAD |
|
|
rs1382964089 CA356411922 |
650 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2863800 rs774834918 |
651 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA356411955 CA92531683 rs895786252 RCV000732034 |
655 | S>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA356411990 rs1486663338 |
661 | T>I | No |
ClinGen gnomAD |
|
|
rs1205310412 CA356411996 |
662 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2863807 rs764073088 |
663 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764073088 CA2863806 |
663 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427045931 CA356412020 |
666 | C>R | No |
ClinGen gnomAD |
|
|
rs1185808791 CA356412027 |
667 | P>T | No |
ClinGen gnomAD |
|
|
CA356412085 rs953243101 |
669 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2863823 rs763596840 |
670 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406488712 CA356412091 |
670 | E>K | No |
ClinGen gnomAD |
|
|
rs531042101 CA92533845 |
671 | V>I | No |
ClinGen gnomAD |
|
|
rs529497661 CA2863825 |
672 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2863828 rs756383263 CA2863829 |
675 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750224700 CA2863827 |
675 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA356413076 rs1224930014 |
676 | D>N | No |
ClinGen gnomAD |
|
|
rs753964289 CA2863830 |
678 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA356413142 rs1264168518 |
678 | K>R | No |
ClinGen gnomAD |
|
|
CA356413166 rs779150773 |
679 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs755042919 CA2863831 |
679 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779150773 CA2863832 |
679 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs748642162 CA2863834 COSM1427488 |
680 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs200236654 CA356413190 |
680 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2863833 rs748642162 |
680 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318623839 CA356413194 |
681 | S>L | No |
ClinGen gnomAD |
|
|
CA2863836 rs769428879 |
681 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA92533913 rs756868027 |
682 | V>L | No |
ClinGen Ensembl |
|
|
rs762605055 CA2863838 |
683 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1416043903 CA356413378 |
689 | N>S | No |
ClinGen TOPMed |
|
|
rs1442800447 CA356413395 |
690 | N>D | No |
ClinGen gnomAD |
|
|
rs767403778 CA2863841 |
692 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA356413485 rs1158027626 |
693 | V>A | No |
ClinGen TOPMed |
|
|
CA356413472 rs1402828879 |
693 | V>M | No |
ClinGen TOPMed |
|
|
rs1455734834 CA356413496 |
694 | S>P | No |
ClinGen TOPMed |
|
|
rs1283454111 CA356413539 |
696 | T>I | No |
ClinGen gnomAD |
|
|
CA2863846 rs755275923 |
699 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754058720 CA2863845 |
699 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA356413630 rs1553833965 |
700 | P>Q | No |
ClinGen Ensembl |
|
|
CA2863847 rs537906621 VAR_076885 |
701 | L>V | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs947305654 CA92534007 |
702 | G>* | No |
ClinGen Ensembl |
|
|
CA356413678 rs1490843228 |
702 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA356413680 rs1490843228 |
702 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752763357 CA2863848 |
703 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA356413762 rs1189294231 COSM1594298 |
706 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA356413827 rs747516455 |
709 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2863851 rs747516455 |
709 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1426084216 CA356413903 |
712 | I>S | No |
ClinGen gnomAD |
|
|
CA2863852 rs771224275 |
714 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 715 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269516610 CA356414127 |
720 | W>* | No |
ClinGen TOPMed |
|
|
CA92534104 rs533830027 |
721 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA356414191 rs199768782 |
721 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1340940841 CA356414205 |
722 | E>* | No |
ClinGen TOPMed |
|
|
CA356414299 rs1214512907 |
725 | T>I | No |
ClinGen gnomAD |
|
|
rs1051764399 CA92534122 |
726 | L>F | No |
ClinGen Ensembl |
|
|
CA2863864 rs758339439 |
731 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA356416957 rs1223380487 |
732 | V>I | No |
ClinGen TOPMed |
|
|
rs757790778 CA2863867 |
734 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781504375 CA2863868 |
735 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA356417069 rs1408336664 |
741 | A>G | No |
ClinGen gnomAD |
|
|
CA2863870 rs746279972 |
741 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1157445855 CA356417090 |
744 | F>S | No |
ClinGen gnomAD |
|
|
CA2863871 rs570047487 |
746 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769221255 CA92541236 |
750 | T>I | No |
ClinGen Ensembl |
|
|
rs1284632277 CA356417127 |
750 | T>S | No |
ClinGen TOPMed |
|
|
rs942868342 CA92541238 RCV000594109 |
751 | T>A | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs747842583 CA2863873 |
752 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356417179 rs1463290075 |
754 | T>S | No |
ClinGen TOPMed |
|
|
rs772804576 CA2863875 |
756 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771035854 CA2863877 |
758 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226753536 CA356417244 |
759 | T>A | No |
ClinGen gnomAD |
|
|
CA2863878 rs776548068 |
760 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1325342502 CA356417278 |
761 | E>D | No |
ClinGen gnomAD |
|
|
CA2863879 rs759466798 |
763 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183416202 CA356417321 |
764 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM3380850 CA2863881 rs775513819 |
766 | S>G | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA356417349 rs1249818223 |
766 | S>N | No |
ClinGen TOPMed |
|
|
rs764038184 CA2863883 |
768 | Q>H | No |
ClinGen ExAC |
|
|
rs1156429468 CA356417450 |
770 | V>G | No |
ClinGen gnomAD |
|
|
CA2863885 rs757739237 |
771 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs768069556 CA2863886 |
772 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs370866287 CA2863887 |
774 | H>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1577369055 CA356417559 |
777 | V>A | No |
ClinGen Ensembl |
|
|
rs1285354201 CA356417568 |
778 | G>A | No |
ClinGen gnomAD |
|
|
CA92542929 rs1044466497 |
780 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2863901 rs372864286 |
781 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs761947519 CA2863902 |
782 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1305018185 CA356418550 |
782 | P>S | No |
ClinGen gnomAD |
|
|
CA356418570 rs1404533630 |
783 | F>L | No |
ClinGen gnomAD |
|
|
CA92542938 rs959195625 |
783 | F>V | No |
ClinGen TOPMed |
|
|
rs374294064 CA92542941 RCV000998223 |
783 | F>Y | No |
ClinGen ClinVar ESP TOPMed dbSNP |
|
|
CA92542948 rs767588632 |
787 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2863903 rs767588632 |
787 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2863904 rs750872276 |
788 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2863905 rs3733641 |
789 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356418708 rs1341359111 |
791 | N>H | No |
ClinGen gnomAD |
|
|
CA2863906 rs766615875 |
792 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1473109354 CA356418735 |
792 | Q>K | No |
ClinGen TOPMed |
|
|
CA356418840 rs1191203727 |
796 | M>I | No |
ClinGen TOPMed |
|
|
CA2863909 rs367560550 |
796 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1448886967 CA356418945 |
799 | G>R | No |
ClinGen TOPMed |
|
|
rs751256652 VAR_062805 CA2863910 |
800 | K>E | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA356419009 rs1287026947 |
800 | K>R | No |
ClinGen TOPMed |
|
|
CA92542986 rs950255537 |
801 | V>L | No |
ClinGen gnomAD |
|
|
rs1194338259 CA356419053 |
802 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2863913 rs745751160 |
804 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs779690876 CA2863915 |
809 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749164551 CA2863916 |
810 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1229368745 CA356419322 |
810 | G>R | No |
ClinGen TOPMed |
|
|
rs774490154 CA2863918 |
811 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2863917 rs201303853 |
811 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA92543005 rs1046105985 |
812 | N>H | No |
ClinGen Ensembl |
|
|
rs766961943 CA2863924 |
817 | I>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2863923 rs766961943 |
817 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs761057498 CA2863922 |
817 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA92543070 rs1009147854 |
818 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA356419551 rs1486633383 |
819 | P>S | No |
ClinGen gnomAD |
|
|
rs760016592 CA2863925 |
820 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA92543091 rs764020619 CA2863926 |
823 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs113835820 CA2863927 |
825 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1460535009 CA356419679 |
825 | I>V | No |
ClinGen gnomAD |
|
|
CA356419723 rs1162757034 |
827 | F>L | No |
ClinGen gnomAD |
|
|
rs1405870485 CA356419753 |
829 | S>I | No |
ClinGen TOPMed |
|
|
RCV000731328 rs1560180119 CA356420019 |
834 | A>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA356420106 rs1355063676 |
836 | A>G | No |
ClinGen gnomAD |
|
|
CA356420096 rs1348227304 |
836 | A>S | No |
ClinGen gnomAD |
|
|
CA356420082 rs1348227304 |
836 | A>T | No |
ClinGen gnomAD |
|
|
CA356420124 rs1225789096 |
837 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA356420183 rs751903949 |
840 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs751903949 CA2863952 |
840 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2863954 rs778650437 |
841 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs918280115 CA92544665 |
842 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA356420289 rs1481526699 |
845 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA356420294 rs1481526699 |
845 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA92544689 rs534682728 |
846 | T>I | No |
ClinGen gnomAD |
|
|
CA356420314 rs534682728 |
846 | T>K | No |
ClinGen gnomAD |
|
|
CA356420358 rs1435950839 |
847 | D>G | No |
ClinGen gnomAD |
|
|
CA92544732 rs1029391409 |
850 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1464670919 CA356420623 |
856 | A>T | No |
ClinGen TOPMed |
|
|
rs1368360810 CA356420650 |
858 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2863959 rs770990150 |
859 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1475453348 CA356420677 |
859 | K>N | No |
ClinGen gnomAD |
|
|
CA356420697 rs1367275342 |
861 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2863961 rs560623516 |
864 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356420793 rs1272529094 |
868 | A>T | No |
ClinGen gnomAD |
|
|
rs1490910806 CA356420801 |
868 | A>V | No |
ClinGen gnomAD |
|
|
CA2863966 rs772863864 |
869 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA356420881 rs1488074303 |
875 | S>P | No |
ClinGen gnomAD |
|
|
rs1438245128 CA356412050 |
876 | V>I | No |
ClinGen TOPMed |
|
|
rs760405029 CA2863988 |
881 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV000729968 rs1560181421 CA356412147 |
885 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1560181421 RCV000728529 CA356412144 |
885 | P>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1461261346 CA356412172 COSM1594295 |
887 | F>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA2863989 rs770439836 |
889 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs897897169 CA92510675 |
892 | Q>H | No |
ClinGen gnomAD |
|
|
rs1191889173 CA356412200 |
892 | Q>K | No |
ClinGen TOPMed |
|
|
CA92510683 rs994588014 |
893 | L>V | No |
ClinGen TOPMed |
|
|
CA2863992 rs764719093 |
895 | Q>K | No |
ClinGen ExAC TOPMed |
|
|
CA356412220 rs1268364329 |
895 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA356412261 rs1283645074 |
900 | V>A | No |
ClinGen gnomAD |
|
|
CA2863993 rs762773584 |
902 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2863994 rs763984077 |
903 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356412296 rs1394929452 |
905 | L>F | No |
ClinGen gnomAD |
|
|
CA2863995 rs374452139 |
906 | N>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356412316 rs1329524602 |
908 | S>C | No |
ClinGen gnomAD |
|
|
rs781206278 CA356412326 |
910 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1444040844 CA356412327 |
910 | R>Q | No |
ClinGen gnomAD |
|
|
CA92510700 rs1049058446 |
913 | L>F | No |
ClinGen Ensembl |
|
|
CA356412366 rs1413165832 |
916 | L>P | No |
ClinGen gnomAD |
|
|
CA92510710 rs746549971 |
917 | R>G | No |
ClinGen Ensembl |
|
|
CA356412373 rs1457105326 |
917 | R>S | No |
ClinGen gnomAD |
|
|
rs1347866497 CA356412379 |
918 | S>I | No |
ClinGen TOPMed |
|
|
rs780258947 CA2864000 |
922 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs200707391 CA2864002 |
925 | R>L | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA356412465 rs1444647723 |
931 | P>T | No |
ClinGen gnomAD |
|
|
rs1289298718 CA356412472 |
932 | V>A | No |
ClinGen gnomAD |
|
|
CA92510721 rs770442584 |
932 | V>I | No |
ClinGen Ensembl |
|
|
CA356412488 rs1350092579 |
934 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 937 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356412502 rs1347073826 |
937 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2864007 rs774945610 |
938 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2864008 rs762973984 |
940 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs763882744 CA2864009 |
942 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356412549 rs1252162934 CA356412550 |
943 | Q>H | No |
ClinGen gnomAD |
|
|
rs1389577447 CA356412586 |
946 | E>D | No |
ClinGen gnomAD |
|
|
CA92511396 rs979292127 |
947 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2864021 rs563295435 |
948 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356412606 rs118204053 |
950 | R>G | Joubert syndrome 9 (jbts9) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs769392158 CA2864024 |
950 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356412623 rs1437129489 |
951 | D>V | No |
ClinGen gnomAD |
|
|
rs1005904017 CA92511412 |
953 | N>K | No |
ClinGen gnomAD |
|
|
rs1325652946 CA356412648 |
953 | N>T | No |
ClinGen Ensembl |
|
|
CA356412663 rs1340762096 |
954 | V>A | No |
ClinGen gnomAD |
|
|
rs1283697842 CA356412655 |
954 | V>I | No |
ClinGen Ensembl |
|
|
CA2864025 rs560021345 |
956 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356412679 rs1469417699 |
956 | E>K | No |
ClinGen gnomAD |
|
|
rs1356591761 CA356412779 |
961 | I>V | No |
ClinGen gnomAD |
|
|
CA2864028 rs774214294 |
963 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1247493986 CA356412884 |
966 | A>S | No |
ClinGen gnomAD |
|
|
rs1166982563 CA356412907 |
967 | I>M | No |
ClinGen gnomAD |
|
|
rs794727374 CA242300 RCV000176376 |
967 | I>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA92511430 rs895053103 |
967 | I>V | No |
ClinGen Ensembl |
|
|
CA356412972 rs1458756396 |
971 | Y>* | No |
ClinGen gnomAD |
|
|
CA2864029 rs548727534 |
971 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356413003 rs1321218611 |
973 | Q>R | No |
ClinGen gnomAD |
|
|
RCV000728909 CA356413322 rs1560183164 |
975 | V>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1440957482 CA356413316 |
975 | V>I | No |
ClinGen TOPMed |
|
|
COSM3825437 CA356413348 rs1327730952 |
976 | R>K | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA92512098 rs993294783 |
976 | R>S | No |
ClinGen TOPMed |
|
|
CA356413350 rs1327730952 |
976 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA356413452 rs1286930985 |
980 | I>T | No |
ClinGen TOPMed |
|
|
COSM1594294 CA2864041 rs747319638 |
982 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA356413514 rs747319638 |
982 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1441715333 CA356413549 |
983 | F>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 986 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356413631 rs1483006588 |
986 | A>T | No |
ClinGen gnomAD |
|
|
CA2864044 rs748958736 |
993 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs948831106 CA92512120 |
994 | D>G | No |
ClinGen TOPMed |
|
|
rs768101335 CA2864045 |
995 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA92512127 rs754327317 |
996 | I>K | No |
ClinGen gnomAD |
|
|
rs754327317 CA356413989 |
996 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2864047 rs748066841 |
1000 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356415413 RCV000591677 rs1553839640 |
1007 | L>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA356415427 rs1227763074 |
1008 | G>C | No |
ClinGen gnomAD |
|
|
CA356415436 rs1271219414 |
1008 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1010 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223547465 CA356415468 |
1010 | S>R | No |
ClinGen gnomAD |
|
|
rs1440078138 CA356415498 |
1012 | F>S | No |
ClinGen TOPMed |
|
|
rs1247027472 CA356415549 |
1015 | A>V | No |
ClinGen gnomAD |
|
|
CA356415583 rs1191597081 |
1017 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA356415657 rs1406696636 |
1021 | L>R | No |
ClinGen gnomAD |
|
|
rs751865030 CA356415666 COSM1594293 |
1022 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA356415750 rs1366543476 |
1027 | G>C | No |
ClinGen gnomAD |
|
|
rs1434531805 CA356415760 |
1027 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1027 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356415776 rs775439922 |
1028 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775439922 CA2864074 |
1028 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1036 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358156436 CA356415972 |
1039 | G>R | No |
ClinGen TOPMed |
|
|
CA356415992 rs1333977020 |
1040 | D>G | No |
ClinGen gnomAD |
|
|
CA92513555 rs549484261 |
1041 | I>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA92513563 rs746335581 |
1043 | L>P | No |
ClinGen Ensembl |
|
|
CA2864080 rs750750028 |
1043 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA356416085 rs1473580177 |
1045 | V>L | No |
ClinGen gnomAD |
|
|
rs928233071 CA92513572 |
1047 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1192970855 CA356416161 |
1049 | R>Q | No |
ClinGen TOPMed |
|
|
rs1055487228 CA92513577 |
1052 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs745613164 CA2864089 |
1058 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356416357 rs745613164 |
1058 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2864088 rs780866283 |
1058 | P>S | No |
ClinGen ExAC |
|
|
rs1392310906 CA356416384 |
1060 | V>L | No |
ClinGen gnomAD |
|
|
rs1283882349 CA356416403 |
1061 | S>R | No |
ClinGen gnomAD |
|
|
CA356417445 rs1560186625 |
1063 | F>L | No |
ClinGen Ensembl |
|
|
rs751061977 CA2864102 |
1065 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs556931817 CA2864103 |
1066 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356417498 rs1411843699 |
1066 | P>T | No |
ClinGen gnomAD |
|
|
CA2864104 rs781259863 |
1067 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2864105 rs755986942 |
1068 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA2864106 rs779795716 |
1069 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1070 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768818047 CA2864108 |
1076 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1437673943 CA356417684 COSM3825439 |
1078 | A>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs748192403 CA2864111 |
1080 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs772038406 CA2864112 |
1081 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371909386 CA2864113 |
1083 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751234041 CA16604611 RCV000436308 |
1084 | Y>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2864115 rs766804483 |
1085 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs756918920 CA92515372 |
1086 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756918920 CA2864116 |
1086 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000998224 CA356417820 rs1577382579 |
1087 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs762713109 CA2864117 |
1088 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356417825 rs762713109 |
1088 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751256569 CA2864119 |
1093 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs1332793509 | 1094 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2864124 rs181260724 |
1095 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356418441 rs1405621709 |
1096 | Q>* | No |
ClinGen TOPMed |
|
|
CA356418446 rs1338306683 |
1096 | Q>R | No |
ClinGen gnomAD |
|
|
rs1349492467 CA356418573 |
1099 | V>L | No |
ClinGen TOPMed |
|
|
rs767086890 CA2864139 |
1100 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2864140 rs376773368 |
1100 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767086890 CA356418596 |
1100 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA92515595 rs369547644 |
1103 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA92515598 rs976493925 |
1105 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10602920 rs886041156 RCV000316724 |
1107 | F>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1475440676 CA356418842 |
1108 | Q>R | No |
ClinGen gnomAD |
|
|
CA2864142 rs766236848 |
1109 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2864144 rs754824046 |
1112 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA356418957 rs1383528242 |
1112 | C>Y | No |
ClinGen gnomAD |
|
|
CA92515632 rs1030712407 |
1113 | H>Y | No |
ClinGen TOPMed |
|
|
CA356419109 rs1331872450 |
1117 | A>V | No |
ClinGen gnomAD |
|
|
rs199759274 CA2864146 |
1118 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356419260 rs1260226165 |
1121 | N>K | No |
ClinGen gnomAD |
|
|
CA356419315 rs1202236290 |
1123 | S>G | No |
ClinGen gnomAD |
|
|
CA2864148 rs377404804 |
1123 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746358327 CA2864150 |
1125 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1484520420 CA356419415 |
1126 | E>G | No |
ClinGen TOPMed |
|
|
rs373780145 CA356419455 |
1127 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770326284 CA2864151 |
1127 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2864153 rs761551488 |
1129 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA92515679 rs773571327 |
1129 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs771566352 CA2864154 |
1130 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs375903728 COSM1427513 CA92516601 |
1134 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
rs1217985655 CA356419839 |
1135 | P>S | No |
ClinGen Ensembl |
|
|
CA356419925 rs1577384329 |
1141 | T>P | No |
ClinGen Ensembl |
|
|
rs1252635827 CA356419935 |
1142 | A>D | No |
ClinGen TOPMed |
|
|
CA356419933 rs1277091809 |
1142 | A>P | No |
ClinGen gnomAD |
|
|
CA2864171 rs769059642 |
1144 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA356419962 rs1205003204 |
1144 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356420001 rs1192783665 |
1146 | S>P | No |
ClinGen gnomAD |
|
|
rs1435087589 CA356420058 |
1148 | K>R | No |
ClinGen gnomAD |
|
|
rs1253546417 CA356420072 |
1149 | D>N | No |
ClinGen gnomAD |
|
|
CA356420123 rs1577384388 |
1150 | V>L | No |
ClinGen Ensembl |
|
|
rs1410133502 CA356420212 |
1153 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA356420208 rs1288097690 |
1153 | I>V | No |
ClinGen TOPMed |
|
|
CA92516650 rs61745013 |
1154 | N>T | No |
ClinGen Ensembl |
|
|
rs760298196 CA2864173 |
1156 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1459761678 CA356420368 |
1157 | D>G | No |
ClinGen gnomAD |
|
|
rs1394356594 CA356420433 |
1159 | V>A | No |
ClinGen gnomAD |
|
|
CA2864175 rs776074900 |
1160 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA356420468 rs1362950111 |
1161 | H>Q | No |
ClinGen gnomAD |
|
|
rs370866477 CA2864177 |
1162 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2864178 rs775357556 |
1165 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1166 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs527517563 CA2864187 |
1166 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2864188 rs749787312 |
1166 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs746694614 RCV000595232 CA2864191 |
1168 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA356421631 rs1428271568 |
1169 | E>G | No |
ClinGen TOPMed |
|
|
CA92517233 rs890421496 |
1169 | E>K | No |
ClinGen TOPMed |
|
|
rs776127790 CA2864193 |
1170 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2864194 rs769339676 |
1171 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371924209 CA2864195 |
1172 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356421706 rs1383661362 |
1172 | S>T | No |
ClinGen Ensembl |
|
|
CA356421724 rs1189126826 |
1173 | G>R | No |
ClinGen gnomAD |
|
|
CA2864196 rs754966579 |
1176 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2864197 rs754966579 |
1176 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356421839 rs1409338849 |
1177 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs376674451 CA2864198 |
1178 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356421857 rs1400243836 |
1178 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2864199 rs767783281 |
1179 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1560188280 RCV000722449 CA356421889 |
1179 | E>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1026461013 CA92517269 |
1181 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356421957 RCV000729371 rs1560188288 |
1182 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs781364818 CA356422022 |
1185 | C>G | No |
ClinGen gnomAD |
|
|
rs781364818 CA92517272 |
1185 | C>R | No |
ClinGen gnomAD |
|
|
CA2864201 rs766459026 |
1186 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351267431 CA356422068 |
1187 | K>Q | No |
ClinGen gnomAD |
|
|
rs529422545 CA2864202 |
1187 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1276899824 CA356422122 |
1188 | M>I | No |
ClinGen gnomAD |
|
|
rs755471448 CA2864203 |
1188 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs779268374 CA2864204 |
1189 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA356422186 rs1211076846 |
1191 | S>N | No |
ClinGen gnomAD |
|
|
CA356422217 rs1256369994 |
1192 | T>I | No |
ClinGen gnomAD |
|
|
rs1184400755 CA356422246 |
1193 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs756905415 CA2864206 |
1194 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356423592 rs1392733763 |
1201 | G>R | No |
ClinGen TOPMed |
|
|
rs1396865543 CA356423603 |
1202 | T>I | No |
ClinGen gnomAD |
|
|
rs906415967 CA92519093 |
1205 | I>K | No |
ClinGen Ensembl |
|
|
RCV000728616 CA2864216 rs766400907 |
1206 | D>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA356423630 RCV000733562 rs1560189957 |
1206 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA356423626 rs1328396456 |
1206 | D>Y | No |
ClinGen TOPMed |
|
|
CA356423651 rs1396572609 |
1209 | P>L | No |
ClinGen gnomAD |
|
|
CA2864217 rs753905430 |
1211 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356423677 rs1166699647 |
1214 | Y>C | No |
ClinGen TOPMed |
|
|
CA2864218 rs759970546 |
1214 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356423695 rs1229073162 |
1216 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1193445221 CA356423700 |
1217 | E>G | No |
ClinGen TOPMed |
|
|
COSM3428262 CA92519123 rs1052251029 |
1218 | R>Q | Variant assessed as Somatic; 6.549e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA92519125 rs901132334 |
1220 | M>V | No |
ClinGen TOPMed |
|
|
CA356423730 rs1242948614 |
1222 | L>F | No |
ClinGen Ensembl |
|
|
rs1194412536 CA356423754 |
1223 | E>D | No |
ClinGen gnomAD |
|
|
rs1272123067 CA356423742 |
1223 | E>Q | No |
ClinGen TOPMed |
|
|
rs1010721685 CA92519136 |
1225 | G>D | No |
ClinGen TOPMed |
|
|
rs1455173117 CA356423798 |
1226 | F>C | No |
ClinGen gnomAD |
|
|
rs1022325907 CA92519140 |
1230 | R>* | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen gnomAD |
|
CA356423896 rs1233804743 |
1235 | G>D | No |
ClinGen TOPMed |
|
|
rs964134322 CA92519143 |
1238 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1474991274 CA356423945 |
1239 | T>I | No |
ClinGen gnomAD |
|
|
rs1419978989 CA356423986 |
1242 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA356423993 rs1327419088 |
1243 | T>A | No |
ClinGen TOPMed |
|
|
CA356424016 rs1383399144 |
1245 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1318619045 RCV000722365 CA356424041 |
1246 | P>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1318619045 CA356424035 |
1246 | P>T | No |
ClinGen gnomAD |
|
|
rs1225731970 CA356424112 |
1249 | V>L | No |
ClinGen gnomAD |
|
|
rs1336122508 CA356424154 |
1251 | G>A | No |
ClinGen gnomAD |
|
|
COSM3702539 CA356424228 rs1233135734 |
1254 | I>F | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1271825377 CA356424248 COSM1594398 |
1255 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2864226 rs748766572 |
1255 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1258 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356425325 rs1485903880 |
1258 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356425376 rs1420749120 |
1261 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 1263 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356425424 rs1341597443 |
1264 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 1267 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA92521977 rs563423062 |
1268 | Q>L | No |
ClinGen Ensembl |
|
|
CA2864238 rs753246574 |
1269 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1270 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764468499 CA2864240 |
1272 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1273 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356425749 rs1577392545 |
1277 | C>Y | No |
ClinGen Ensembl |
|
|
rs1434535802 CA356425764 |
1278 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1392421669 CA356425848 |
1280 | K>N | No |
ClinGen gnomAD |
|
|
CA356425926 rs1299695241 |
1283 | N>K | No |
ClinGen TOPMed |
|
|
CA2864243 rs779823379 |
1284 | R>S | Joubert syndrome 9 (jbts9) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748126483 CA2864246 |
1286 | C>S | No |
ClinGen ExAC |
|
|
CA356426036 rs1161261578 |
1288 | T>P | No |
ClinGen TOPMed |
|
|
CA356426066 rs1209912536 |
1289 | T>A | No |
ClinGen gnomAD |
|
|
rs772084475 CA2864247 |
1289 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772084475 CA2864248 |
1289 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2864252 rs769895608 |
1293 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA2864251 rs746053267 |
1293 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16618034 rs1064795568 RCV000479986 |
1294 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1212039197 CA356426253 |
1297 | T>P | No |
ClinGen TOPMed |
|
|
rs1357609041 CA356426259 |
1297 | T>S | No |
ClinGen TOPMed |
|
|
rs774716045 CA2864257 |
1300 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1398696429 CA356426335 |
1302 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA356426339 rs988477564 |
1302 | R>H | No |
ClinGen TOPMed |
|
|
CA92522037 rs988477564 |
1302 | R>L | No |
ClinGen TOPMed |
|
|
rs935533032 CA92522045 |
1304 | L>V | No |
ClinGen Ensembl |
|
|
CA356426413 rs1279680836 |
1306 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 1308 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762297266 CA356426478 CA2864258 |
1308 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2864259 rs199703878 |
1309 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356426534 rs1370542715 |
1312 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA356426600 rs1297986816 |
1315 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1227862594 CA356426645 |
1317 | Y>H | No |
ClinGen gnomAD |
|
|
rs1321298550 CA356426706 |
1320 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 1321 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356426733 rs1250733132 |
1322 | Q>* | No |
ClinGen gnomAD |
|
|
rs1253018429 CA356426783 |
1325 | A>E | No |
ClinGen gnomAD |
|
|
rs1166361679 CA356428169 |
1326 | E>D | No |
ClinGen gnomAD |
|
|
rs1476388168 CA356428154 |
1326 | E>K | No |
ClinGen gnomAD |
|
|
rs759274548 CA2864280 |
1327 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764916255 CA2864281 |
1328 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs951039594 CA356428217 |
1329 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA92525386 rs1003998772 |
1331 | Y>* | No |
ClinGen TOPMed |
|
|
rs1577396363 CA356428286 |
1334 | L>S | No |
ClinGen Ensembl |
|
|
CA2864285 rs781057021 |
1339 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA356428401 rs1226136146 |
1344 | F>S | No |
ClinGen gnomAD |
|
|
CA2864287 rs755902535 |
1345 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1351 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288147385 CA356428496 |
1351 | W>R | No |
ClinGen TOPMed |
|
|
rs553593786 CA92525409 |
1353 | T>I | No |
ClinGen 1000Genomes |
|
|
CA356428561 rs1189058364 |
1354 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1355 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356428628 rs1372742726 |
1356 | Q>E | No |
ClinGen gnomAD |
|
|
rs1234481040 CA356428632 |
1356 | Q>H | No |
ClinGen gnomAD |
|
|
CA356428654 rs1273882127 |
1359 | D>N | No |
ClinGen gnomAD |
|
|
rs1354962877 CA356428719 |
1362 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2864319 rs762683334 |
1363 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs768130176 CA356428745 |
1364 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768130176 CA2864320 |
1364 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405571414 CA356428760 |
1365 | E>K | No |
ClinGen TOPMed |
|
|
rs1577397661 CA356428795 |
1366 | E>G | No |
ClinGen Ensembl |
|
|
rs761292350 CA2864322 |
1367 | E>* | No |
ClinGen ExAC gnomAD |
|
| rs794729225 | 1367 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1370 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2864324 rs180955463 |
1373 | C>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA92526504 rs921854876 |
1376 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 1378 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2864325 rs760567737 |
1379 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA356429154 rs1476941020 |
1383 | A>D | No |
ClinGen gnomAD |
|
|
rs562686526 CA2864327 |
1384 | W>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2864326 rs562686526 |
1384 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2864329 rs576183875 |
1389 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1396122330 CA356429379 |
1391 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1392 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439243318 CA356429400 |
1392 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 1394 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA92527403 rs1037467014 |
1394 | G>V | No |
ClinGen TOPMed |
|
|
CA2864347 rs759303901 |
1396 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765058926 CA2864348 |
1396 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA92527447 rs892488082 |
1399 | V>M | No |
ClinGen Ensembl |
|
|
CA356429543 rs758652895 |
1400 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143947747 CA356429554 |
1401 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356429588 CA2864352 rs751624828 |
1403 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1165296627 CA356429576 |
1403 | E>K | No |
ClinGen TOPMed |
|
|
CA2864353 rs757410220 |
1405 | G>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1594394 rs781779336 CA2864355 |
1406 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs369001837 CA2864356 |
1406 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1407 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1408 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2864357 rs756480173 |
1409 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA92527555 rs1044009143 |
1410 | W>* | No |
ClinGen Ensembl |
|
|
rs1046227785 CA92527552 |
1410 | W>R | No |
ClinGen TOPMed |
|
|
rs1424278075 CA356429704 |
1413 | C>R | No |
ClinGen gnomAD |
|
|
rs997057154 CA92527572 |
1414 | S>G | No |
ClinGen TOPMed |
|
|
rs747781887 CA2864359 |
1414 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771657471 CA2864360 |
1415 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2864361 rs772711096 |
1416 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356429741 rs772711096 |
1416 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359466030 CA356429754 |
1416 | H>R | No |
ClinGen gnomAD |
|
|
CA356429797 rs1315116538 |
1419 | G>E | No |
ClinGen gnomAD |
|
|
rs746586153 CA2864363 |
1419 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1204195019 CA356429814 |
1420 | Q>L | No |
ClinGen TOPMed |
|
|
rs1316470193 CA356429832 |
1421 | F>C | No |
ClinGen TOPMed |
|
|
CA356429932 rs1560196423 |
1426 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1429 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560196436 RCV000735012 |
1431 | G>* | No |
ClinVar dbSNP |
|
|
CA92527596 rs1028734247 |
1431 | G>V | No |
ClinGen gnomAD |
|
|
rs776481009 CA2864364 |
1434 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA356430098 rs1300060034 |
1434 | I>V | No |
ClinGen TOPMed |
|
|
CA356431457 rs1312604845 |
1443 | I>V | No |
ClinGen gnomAD |
|
|
rs529437224 CA2864376 |
1445 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356431473 rs113065116 |
1445 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777456053 CA2864378 |
1446 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1195174096 CA356431542 |
1456 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1267586356 CA356431558 |
1458 | R>M | No |
ClinGen gnomAD |
|
|
rs945686996 CA92534256 |
1458 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1246739950 CA356431560 |
1459 | P>S | No |
ClinGen gnomAD |
|
|
rs867286451 CA92534303 |
1462 | W>* | No |
ClinGen TOPMed |
|
|
CA356431593 rs1407804611 |
1463 | K>N | No |
ClinGen TOPMed |
|
|
rs1176927796 RCV000785074 |
1466 | F>missing | No |
ClinVar dbSNP |
|
|
CA356431610 rs1170583979 |
1466 | F>V | No |
ClinGen gnomAD |
|
|
CA92534307 rs1041487733 |
1467 | S>L | No |
ClinGen TOPMed |
|
|
rs780711699 CA2864380 |
1469 | S>N | No |
ClinGen ExAC |
|
|
CA356431668 rs1201825419 |
1475 | L>F | No |
ClinGen TOPMed |
|
|
CA2864381 rs769711933 |
1476 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs794727589 RCV000177865 CA244814 |
1480 | P>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs794727589 CA356431907 |
1480 | P>T | No |
ClinGen gnomAD |
|
|
CA356431952 rs1349528471 |
1481 | E>K | No |
ClinGen gnomAD |
|
|
rs1229562320 CA356432202 |
1489 | D>E | No |
ClinGen gnomAD |
|
|
rs1338289178 CA356432187 |
1489 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA356432184 rs1338289178 |
1489 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA356432239 rs1335588110 |
1491 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 1492 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356432246 rs1289904159 |
1492 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356432244 rs1289904159 |
1492 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1320752809 CA356432264 |
1493 | A>S | No |
ClinGen gnomAD |
|
|
rs1320752809 CA356432259 |
1493 | A>T | No |
ClinGen gnomAD |
|
|
CA356432272 rs1218998708 |
1493 | A>V | No |
ClinGen gnomAD |
|
|
rs1488843315 CA356432313 |
1495 | E>D | No |
ClinGen gnomAD |
|
|
rs1287686817 CA356432301 |
1495 | E>G | No |
ClinGen gnomAD |
|
|
CA356432323 RCV000591452 rs1553845302 |
1497 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA92535051 rs578050714 |
1499 | R>K | No |
ClinGen 1000Genomes |
|
|
CA356433548 rs1482342015 RCV000732799 |
1499 | R>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA356433564 rs1178985125 |
1500 | I>T | No |
ClinGen gnomAD |
|
|
CA356433578 rs1381179049 |
1501 | E>* | No |
ClinGen gnomAD |
|
|
CA2864402 rs201316005 |
1502 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768606928 CA2864401 |
1502 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1503 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773300198 CA2864406 |
1507 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766343689 CA2864408 |
1510 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs777158229 CA92536373 |
1511 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777158229 RCV000255224 CA2864409 |
1511 | W>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA356433803 rs1306611568 |
1512 | R>K | No |
ClinGen gnomAD |
|
|
CA2864410 rs756324214 |
1514 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756324214 CA356433830 |
1514 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278578914 CA356433845 |
1515 | H>N | No |
ClinGen gnomAD |
|
|
CA92536380 rs371944691 |
1515 | H>R | No |
ClinGen ESP |
|
|
CA2864412 rs752999679 |
1516 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200645738 CA356433903 |
1518 | R>P | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs779671615 CA2864417 |
1523 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs749265354 CA2864418 |
1526 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749265354 CA356434094 |
1526 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328921974 CA356434188 |
1529 | H>Q | No |
ClinGen gnomAD |
|
|
CA2864419 rs754909098 |
1531 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA356434364 rs1553845607 |
1536 | K>E | No |
ClinGen Ensembl |
|
| rs1259255310 | 1537 | S>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA92536476 rs748026197 CA2864420 |
1539 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747163468 CA2864424 |
1544 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2864423 rs376667009 |
1544 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776642347 CA2864426 |
1545 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1184358250 CA356434534 |
1545 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs369986526 CA92536558 |
1547 | R>G | No |
ClinGen ESP |
|
|
CA2864427 rs760048536 |
1547 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765663619 CA2864428 |
1548 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs750121981 CA2864432 |
1553 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs750121981 CA356434665 |
1553 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1554 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA92537763 TCGA novel rs775352351 |
1559 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
| TCGA novel | 1559 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356435938 rs1420190280 |
1560 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1420190280 CA356435934 |
1560 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs758218918 CA2864457 |
1561 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA356435958 rs1186159498 |
1562 | F>L | No |
ClinGen gnomAD |
|
|
rs886059186 CA356435984 |
1563 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2864458 rs777636957 |
1565 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2864461 rs762773515 |
1566 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751245422 CA2864459 |
1566 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403486507 CA356436071 |
1568 | Y>C | No |
ClinGen gnomAD |
|
|
rs557630321 CA2864462 |
1568 | Y>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2864464 rs779950367 |
1569 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA356436109 rs1394477424 |
1570 | E>V | No |
ClinGen TOPMed |
|
|
rs1163274873 CA356436117 |
1571 | V>L | No |
ClinGen TOPMed |
|
|
CA356436134 rs1421594996 |
1572 | K>E | No |
ClinGen TOPMed |
|
|
CA2864465 rs749819795 |
1573 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs199574630 CA92537788 |
1574 | L>S | No |
ClinGen Ensembl |
|
|
CA2864466 rs551243983 |
1575 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA16618036 rs1064794798 RCV000482125 |
1576 | D>H | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA356436204 rs1064794798 |
1576 | D>N | No |
ClinGen gnomAD |
|
|
CA356436253 rs1345553233 |
1579 | Y>D | No |
ClinGen gnomAD |
|
|
rs377460557 CA2864470 |
1580 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764859101 CA2864472 |
1581 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs762951762 CA2864474 |
1584 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764003107 CA2864475 |
1586 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1378734767 CA356436390 |
1587 | D>Y | No |
ClinGen gnomAD |
|
|
rs1323627048 CA356436412 |
1588 | V>I | No |
ClinGen TOPMed |
|
|
CA2864477 rs374301736 |
1589 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2864478 rs780926705 |
1590 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs764027313 CA92537827 |
1592 | E>G | No |
ClinGen Ensembl |
|
|
CA356436536 rs1466189879 |
1592 | E>K | No |
ClinGen gnomAD |
|
|
CA356436592 rs1214214469 |
1594 | A>P | No |
ClinGen TOPMed |
|
|
rs756272293 CA2864480 |
1595 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs780190318 CA2864481 |
1596 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1596 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755052841 CA92537844 |
1597 | V>L | No |
ClinGen Ensembl |
|
|
CA356436721 rs1577408157 |
1598 | Y>C | No |
ClinGen Ensembl |
|
|
CA356436711 rs1331466309 |
1598 | Y>H | No |
ClinGen gnomAD |
|
|
rs1261151818 CA356436758 |
1599 | I>L | No |
ClinGen gnomAD |
|
|
rs1261151818 CA356436756 |
1599 | I>V | No |
ClinGen gnomAD |
|
|
CA356436826 rs1319435466 |
1601 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1602 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779340568 CA2864484 |
1604 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356436917 rs1193292111 |
1605 | N>H | No |
ClinGen gnomAD |
|
|
rs1370684648 CA356436929 |
1605 | N>T | No |
ClinGen TOPMed |
|
|
CA92537869 rs561603400 |
1609 | V>A | No |
ClinGen 1000Genomes |
|
|
CA356437044 rs1577408183 |
1609 | V>I | No |
ClinGen Ensembl |
|
|
CA356437081 rs1356912949 |
1610 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2864490 rs371868705 |
1617 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000731051 rs766713015 CA2864492 |
1618 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 1619 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356437288 RCV000594814 rs1553845963 |
1621 | R>Y | No |
ClinGen ClinVar Ensembl dbSNP |
No associated diseases with Q9P2K1
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| ciliary transition zone | A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| MKS complex | A protein complex that is located at the ciliary transition zone and consists of several proteins some of which are membrane bound. Acts as an organiser of transition zone inner structure, specifically the Y-shaped links, in conjunction with the NPHP complex. The MKS complex also acts as part of the selective barrier that prevents diffusion of proteins between the ciliary cytoplasm and cellular cytoplasm as well as between the ciliary membrane and plasma membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| axoneme assembly | The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| camera-type eye development | The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| determination of left/right symmetry | The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry. |
| embryonic brain development | The process occurring during the embryonic phase whose specific outcome is the progression of the brain over time, from its formation to the mature structure. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| kidney development | The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. |
| motile cilium assembly | The aggregation, arrangement and bonding together of a set of components to form a motile cilium. |
| neural tube closure | The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. |
| non-motile cilium assembly | The aggregation, arrangement and bonding together of a set of components to form a non-motile cilium. |
| protein localization to ciliary transition zone | A process in which a protein is transported to, or maintained in, a location within a ciliary transition zone. |
| smoothened signaling pathway | The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8CFW7 | Cc2d2a | Coiled-coil and C2 domain-containing protein 2A | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNPREEKVKI | ITEEFIENDE | DADMGRQNKN | SKVRRQPRKK | QPPTAVPKEM | VSEKSHLGNP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QEPVQEEPKT | RLLSMTVRRG | PRSLPPIPST | SRTGFAEFSM | RGRMREKLQA | ARSKAESALL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QEIPTPRPRR | LRSPSKKELE | TEFGTEPGKE | VERTQQEVDS | QSYSRVKFHD | SARKIKPKPQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VPPGFPSAEE | AYNFFTFNFD | PEPEGSEEKP | KARHRAGTNQ | EEEEGEEEEP | PAQGGGKEMD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EEELLNGDDA | EDFLLGLDHV | ADDFVAVRPA | DYESIHDRLQ | MEREMLFIPS | RQTVPTYKKL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PENVQPRFLE | DEGLYTGVRP | EVARTNQNIM | ENRLLMQDPE | RRWFGDDGRI | LALPNPIKPF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PSRPPVLTQE | QSIKAELETL | YKKAVKYVHS | SQHVIRSGDP | PGNFQLDIDI | SGLIFTHHPC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FSREHVLAAK | LAQLYDQYLA | RHQRNKAKFL | TDKLQALRNA | VQTGLDPEKP | HQSLDTIQKT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| INEYKSEIRQ | TRKFRDAEQE | KDRTLLKTII | KVWKEMKSLR | EFQRFTNTPL | KLVLRKEKAD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QKADEEAYEA | EIQAEISELL | EEHTEEYAQK | MEEYRTSLQQ | WKAWRKVQRA | KKKKRKQAAE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EHPGDEIAEP | YPEEDLVKPS | PPEPTDRAVI | EQEVRERAAQ | SRRRPWEPTL | VPELSLAGSV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TPNDQCPRAE | VSRREDVKKR | SVYLKVLFNN | KEVSRTVSRP | LGADFRVHFG | QIFNLQIVNW |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PESLTLQVYE | TVGHSSPTLL | AEVFLPIPET | TVVTGRAPTE | EVEFSSNQHV | TLDHEGVGSG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VPFSFEADGS | NQLTLMTSGK | VSHSVAWAIG | ENGIPLIPPL | SQQNIGFRSA | LKKADAISSI |
| 850 | 860 | 870 | 880 | 890 | 900 |
| GTSGLTDMKK | LAKWAAESKL | DPNDPNNAPL | MQLISVATSG | ESYVPDFFRL | EQLQQEFNFV |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SDQELNRSKR | FRLLHLRSQE | VPEFRNYKQV | PVYDREIMEK | VFQDYEKRLR | DRNVIETKEH |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| IDTHRAIVAK | YLQQVRESVI | NRFLIAKQYF | LLADMIVEEE | VPNISILGLS | LFKLAEQKRP |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LRPRRKGRKK | VTAQNLSDGD | IKLLVNIVRA | YDIPVRKPAV | SKFQQPSRSS | RMFSEKHAAS |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| PSTYSPTHNA | DYPLGQVLVR | PFVEVSFQRT | VCHTTTAEGP | NPSWNEELEL | PFRAPNGDYS |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| TASLQSVKDV | VFINIFDEVL | HDVLEDDRER | GSGIHTRIER | HWLGCVKMPF | STIYFQARID |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| GTFKIDIPPV | LLGYSKERNM | ILERGFDSVR | SLSEGSYITL | FITIEPQLVP | GESIREKFES |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| QEDEKLLQAT | EKFQAECALK | FPNRQCLTTV | IDISGKTVFI | TRYLKPLNPP | QELLNVYPNN |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| LQATAELVAR | YVSLIPFLPD | TVSFGGICDL | WSTSDQFLDL | LAGDEEEHAV | LLCNYFLSLG |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| KKAWLLMGNA | IPEGPTAYVL | TWEQGRYLIW | NPCSGHFYGQ | FDTFCPLKNV | GCLIGPDNIW |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| FNIQRYESPL | RINFDVTRPK | LWKSFFSRSL | PYPGLSSVQP | EELIYQRSDK | AAAAELQDRI |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| EKILKEKIMD | WRPRHLTRWN | RYCTSTLRHF | LPLLEKSQGE | DVEDDHRAEL | LKQLGDYRFS |
| 1570 | 1580 | 1590 | 1600 | 1610 | |
| GFPLHMPYSE | VKPLIDAVYS | TGVHNIDVPN | VEFALAVYIH | PYPKNVLSVW | IYVASLIRNR |