Q9NXB0
PR
Gene name |
MKS1 |
Protein name |
Tectonic-like complex member MKS1 |
Names |
Meckel syndrome type 1 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54903 |
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 Q9NXB0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NXB0-F1 | Predicted | AlphaFoldDB |
540 variants for Q9NXB0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1555601787 RCV000674956 |
1 | M>V | Bardet-Biedl syndrome 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206488 rs928775924 |
4 | T>A | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001128504 CA292016773 rs928775924 RCV001235048 RCV001128503 RCV001354729 |
4 | T>S | Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8669664 rs375223375 RCV001369000 RCV000732651 RCV002535287 RCV001825474 |
11 | G>A | Joubert syndrome Inborn genetic diseases Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
CA400328189 rs1386455261 RCV000731433 RCV002536463 |
12 | E>D | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001069334 rs1969448667 |
13 | A>E | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000672700 RCV000050038 RCV002513702 rs386834051 |
19 | D>missing | Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000022412 rs730880323 |
19 | D>missing | Meckel syndrome, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001857741 rs863225205 VAR_077515 CA279536 RCV000201752 |
19 | D>Y | Joubert syndrome (jbts) Joubert syndrome MKS1; no rescue of ciliation defects in an MKS1-knockdown cell line [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA292016708 RCV000538877 rs1031187314 |
22 | R>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1161451203 RCV001228561 CA400328102 |
27 | R>* | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001063186 RCV000729805 CA8669644 RCV001271774 rs201957874 |
28 | V>A | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1969409341 RCV001231141 |
32 | R>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759465861 RCV001825381 CA8669642 RCV000701783 |
34 | T>I | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587779734 RCV000671334 RCV000114211 CA150928 |
37 | N>S | Bardet-Biedl syndrome 13 Meckel-Gruber syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001274930 RCV001062255 RCV000724912 rs199832333 RCV000765374 CA8669639 RCV001820805 |
40 | H>Y | Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1969405671 RCV001203927 |
42 | Q>* | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001834772 rs1311306088 RCV000554973 CA400327985 |
43 | P>R | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000050032 RCV001384725 rs386834046 RCV000674337 |
62 | T>missing | Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8669607 RCV001271773 COSM1257755 RCV000596970 RCV000533125 rs200340896 |
67 | R>C | oesophagus pancreas Joubert syndrome Meckel syndrome, type 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs780293222 CA8669606 RCV001829963 RCV001245681 |
67 | R>H | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001079449 rs142813109 RCV000399365 CA346867 RCV000351197 RCV000177294 RCV000514445 COSM1197370 |
71 | D>E | lung Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000381496 RCV000296253 RCV000668894 CA8669602 COSM3403046 rs753620277 |
72 | E>K | Bardet-Biedl syndrome 13 Variant assessed as Somatic; 0.0 impact. central_nervous_system Bardet-Biedl syndrome Meckel-Gruber syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001855749 RCV000730378 rs1412560835 CA400327763 |
76 | I>T | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001323951 rs1198645467 CA400327760 RCV001830984 |
77 | V>M | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs786204222 CA334638 RCV000665745 RCV000168353 |
78 | I>S | Bardet-Biedl syndrome 13 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1114167302 RCV000491898 CA400327736 VAR_077516 |
80 | W>C | Joubert syndrome (jbts) Joubert syndrome found in a patient with Joubert syndrome also carrying a deletion in MKS1 intron 15 and a missense mutation in TCTN3 gene 'P-95'; unknown pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000290521 rs886053170 CA10650554 RCV000345617 RCV002522991 |
88 | F>S | Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA400327655 RCV001038559 rs1235520151 |
90 | V>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs778921113 RCV001302197 CA8669567 |
105 | Y>H | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000636952 CA400327549 RCV001829787 rs1440792737 |
105 | Y>S | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002275203 RCV002468132 CA8669566 RCV001058713 RCV001827371 rs201476674 |
108 | R>C | Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8669565 RCV001314897 rs200331553 RCV000352213 |
108 | R>H | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000382581 CA10606967 rs886044605 RCV001850480 |
111 | I>L | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs775043799 RCV000412146 RCV000411143 RCV000409586 |
123 | R>missing | Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762482919 RCV001389263 COSM1610525 RCV001175216 CA8669557 |
123 | R>* | Joubert syndrome (jbts) liver Joubert syndrome Meckel syndrome, type 1 [Ensembl, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA8669556 rs202112856 RCV000318559 RCV000224664 RCV001126448 RCV000695608 RCV001126449 RCV000765373 VAR_062287 |
123 | R>Q | Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001729702 RCV001389425 CA292014691 rs990955357 RCV000778505 |
124 | R>* | Joubert syndrome (jbts) Joubert syndrome Joubert syndrome 28 MKS1-Related Disorders [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001835021 rs765026950 CA8669554 COSM981757 RCV000636950 RCV003222071 |
124 | R>Q | Variant assessed as Somatic; 0.0 impact. Joubert syndrome endometrium Meckel syndrome, type 1 [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs863225206 RCV000201583 |
128 | Y>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000050033 rs386834047 |
130 | D>* | Meckel syndrome, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001126447 RCV001123803 RCV002558222 rs1969184476 |
136 | N>T | Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000050035 CA344752 rs386834049 |
142 | Q>* | Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs758424317 CA8669520 RCV001825943 RCV001347912 |
143 | R>I | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001049748 rs1969097203 |
148 | A>P | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8669518 rs778584579 RCV000730981 RCV002535185 |
151 | V>A | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs903778224 CA292013921 RCV001040339 |
153 | S>* | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8669512 RCV000730186 RCV002535145 rs766648988 |
157 | E>G | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001828230 rs200970148 RCV000814394 RCV000397736 CA8669513 |
157 | E>K | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA344757 RCV000050036 RCV000760436 RCV001382376 rs386834050 |
158 | R>* | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs373471917 RCV001235315 RCV001834043 CA400327195 |
158 | R>Q | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001086823 CA8669506 RCV000730592 RCV000384944 RCV000321171 rs200149256 |
164 | R>H | Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs779953982 RCV000201596 RCV000675062 RCV001123798 CA210278 RCV001123799 RCV002517312 |
165 | R>C | Joubert syndrome (jbts) Bardet-Biedl syndrome 13 Variant assessed as Somatic; 0.0 impact. Joubert syndrome Meckel syndrome, type 1 [Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000734092 RCV001868991 CA8669505 RCV002535365 rs771709346 |
165 | R>H | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1050543850 CA292013878 RCV002546297 RCV001329002 |
166 | R>Q | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001820845 CA8669504 VAR_062288 rs201845154 RCV001064855 RCV001828282 RCV000283742 |
166 | R>W | Joubert syndrome (jbts) Joubert syndrome Meckel syndrome, type 1 MKS1; unknown pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001061747 rs1215189491 |
167 | Q>* | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000224251 CA8669502 RCV001049084 COSM245699 RCV000668874 rs756853299 |
170 | R>* | Joubert syndrome (jbts) Bardet-Biedl syndrome 13 Joubert syndrome prostate [Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs369388608 CA8669501 RCV000283022 RCV001859731 |
170 | R>Q | Variant assessed as Somatic; 0.0 impact. Joubert syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001122694 RCV000502261 rs559966703 RCV001122695 RCV001857131 CA8669475 RCV000732564 |
180 | R>C | Bardet-Biedl syndrome 13 Variant assessed as Somatic; 0.0 impact. Joubert syndrome Meckel syndrome, type 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000765372 RCV001122693 RCV000728102 RCV000226628 CA8669471 RCV002518354 RCV001122692 rs200185068 RCV001820754 |
182 | V>I | Bardet-Biedl syndrome 13 Joubert syndrome Inborn genetic diseases Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs775805558 CA292013627 RCV000729138 RCV002533101 |
183 | T>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001061973 rs1969063562 |
189 | E>F* | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001279283 rs1206983556 CA400326963 CA400326964 RCV000592910 |
193 | N>K | Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs140677541 CA8669466 RCV001830143 RCV001297097 |
196 | V>I | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001302912 rs1969060676 |
200 | P>S | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001833916 CA8669462 rs747659750 RCV001220505 |
212 | P>T | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001830311 CA8669460 rs754689401 RCV002511077 RCV001318231 |
213 | Y>C | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001049749 rs1969031350 |
215 | K>N | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400326687 RCV000807108 rs1422512368 |
232 | S>T | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001578755 RCV000729482 RCV001578718 rs749668169 CA8669438 RCV002535120 RCV001578756 |
243 | T>M | Bardet-Biedl syndrome 13 Joubert syndrome Joubert syndrome 28 Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000695711 CA8669415 RCV001272928 RCV000657869 CA8669413 COSM1324939 rs201237547 RCV001578717 RCV001526426 |
255 | G>R | Variant assessed as Somatic; 0.0 impact. ovary Bardet-Biedl syndrome 13 Joubert syndrome Joubert syndrome 28 Meckel syndrome, type 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD ClinVar dbSNP |
|
rs201237547 RCV000299237 CA8669414 RCV000354135 RCV002522990 |
255 | G>W | Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000201675 rs863225209 |
256 | E>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000791492 rs1597991801 CA400326471 |
263 | Y>H | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8669403 RCV001272927 rs201771125 RCV002473180 RCV001055825 |
271 | H>D | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001215638 RCV000725357 rs201771125 RCV001828042 RCV000203095 CA249299 |
271 | H>N | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001126362 RCV000734184 CA8669401 rs201961765 RCV002535372 RCV001126363 |
271 | H>Q | Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8669400 RCV001232790 RCV001834020 rs770088105 |
274 | P>L | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1968967475 RCV001220652 |
276 | E>K | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000670245 CA400326384 RCV002469247 RCV000701980 rs1555599412 |
277 | E>* | Joubert syndrome (jbts) Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs780100856 RCV000671511 |
278 | E>missing | Bardet-Biedl syndrome 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209924 RCV001833845 rs747504986 CA8669395 |
279 | R>Q | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001834074 rs189255737 CA8669396 RCV001239050 |
279 | R>W | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
RCV001279282 RCV000180343 CA247757 rs794727927 |
281 | R>P | Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA347417 RCV000672938 RCV000194216 rs797045706 |
282 | R>* | Bardet-Biedl syndrome 13 Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs976973396 RCV001828637 CA292012776 RCV001204108 |
283 | V>L | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1350256761 RCV001069776 CA400326338 RCV001833665 |
285 | K>R | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000989953 RCV002271519 RCV000514949 RCV001126360 rs151023718 RCV000664898 CA8669389 VAR_062289 RCV000690393 |
286 | D>G | Joubert syndrome (jbts) Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000732660 rs755840522 RCV002536486 CA8669371 |
290 | R>Q | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003130242 RCV001297129 rs1968929550 |
291 | H>Q | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8669370 RCV001271771 rs201845569 RCV000241612 RCV001085441 RCV000725913 |
292 | K>E | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001039449 RCV001832397 CA8669366 rs765793774 |
299 | V>A | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs750025608 CA8669364 RCV000705080 RCV001272926 RCV000658227 |
302 | D>N | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1567799806 CA400326174 RCV001313263 RCV000731838 |
306 | T>I | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_077517 RCV000201588 CA279387 rs863225208 |
317 | G>E | Joubert syndrome (jbts) Joubert syndrome Variant assessed as Somatic; impact. MKS1; unknown pathological significance; no defect of primary cilia formation in starved fibroblasts from a patient also carrying a deletion of S-372; no effect on the localization to the transition zone [Ensembl, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000735871 RCV000050040 RCV001853066 RCV000735097 CA344764 rs386834053 |
320 | V>I | Joubert syndrome (jbts) Joubert syndrome Meckel syndrome, type 1 Leber congenital amaurosis 6 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA239612 RCV000174135 RCV001826875 RCV001246401 rs775391594 COSM2151339 |
332 | V>I | Variant assessed as Somatic; 0.0 impact. Joubert syndrome central_nervous_system Meckel syndrome, type 1 [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001829956 RCV001245319 CA292011685 rs772205041 |
336 | V>A | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs538164532 CA292009150 RCV000593017 RCV002532679 |
346 | P>S | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs386834041 CA344738 RCV000050027 |
350 | Q>* | Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000050026 CA344733 rs386834041 |
350 | Q>E | Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA400325858 RCV001349146 RCV001278507 rs1293609717 RCV000520954 |
352 | S>L | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000243397 rs745809472 CA8669296 RCV000665282 |
355 | T>A | Bardet-Biedl syndrome 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000256424 RCV000171263 CA235981 rs786205508 |
356 | Q>* | Meckel-Gruber syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555598065 RCV000666860 |
360 | T>missing | Bardet-Biedl syndrome 13 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_076978 | 362 | S>del | JBTS28 [UniProt] | Yes | UniProt |
|
CA8669290 rs769389013 RCV001772274 RCV001057720 RCV001272924 |
364 | A>P | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587777804 RCV000001459 |
371 | F>missing | Bardet-Biedl syndrome 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA292008813 rs950609840 RCV001123686 RCV000595148 RCV001239683 RCV001834892 |
371 | F>L | Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_062290 | 371 | F>del | BBS13 [UniProt] | Yes | UniProt |
|
RCV000691391 RCV002465439 RCV000665372 RCV000414929 RCV000201670 RCV001272923 RCV000241545 rs754279998 RCV001197092 |
372 | S>missing | Bardet-Biedl syndrome 13 Joubert syndrome Polydactyly Joubert syndrome 28 Meckel syndrome, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_077518 | 372 | S>del | MKS1; unknown pathological significance; no defect of primary cilia formation in starved fibroblasts from a patient also carrying E-317; no effect on the localization to the transition zone [UniProt] | Yes | UniProt |
|
RCV001207500 CA292008778 rs773157492 RCV002561251 RCV001278506 |
374 | P>L | Joubert syndrome Inborn genetic diseases Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001239403 RCV001834087 rs200350173 CA8669255 |
376 | T>M | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs763534380 CA348828 RCV003137791 RCV000204612 RCV000666000 RCV001835725 |
392 | P>L | Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001828703 rs144764478 CA8669233 RCV001213530 |
399 | C>F | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA240352 RCV000174784 RCV001826879 rs144764478 RCV001050377 |
399 | C>S | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1295464168 RCV001321452 CA400325513 |
402 | L>P | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs773684291 RCV000984286 RCV000984284 RCV000479872 RCV001853235 VAR_077519 CA210326 RCV000984285 RCV000201754 |
403 | S>L | Joubert syndrome (jbts) Bardet-Biedl syndrome 13 Joubert syndrome Joubert syndrome 28 Meckel syndrome, type 1 MKS1; unknown pathological significance; decreased primary cilia formation in starved fibroblasts from a patient also carrying a mutation potentially affecting splicing; complete rescue of ciliation defects in an MKS1-knockdown cell line; no effect on the localization to the transition zone [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001823737 CA8669230 RCV000598192 rs372554696 RCV001829657 RCV001087688 |
405 | D>N | Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001219659 RCV002497749 CA8669228 rs781423785 |
408 | Q>* | Joubert syndrome (jbts) Bardet-Biedl syndrome 13 Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000800100 rs200679238 RCV001830722 CA8669225 |
411 | R>H | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200679238 RCV001855773 CA8669224 RCV000732441 |
411 | R>P | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886053169 RCV000307167 CA10640068 RCV000401138 |
418 | V>A | Bardet-Biedl syndrome 13 Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_077520 CA279550 rs863225210 RCV000201767 |
421 | P>S | Joubert syndrome (jbts) Joubert syndrome MKS1; unknown pathological significance; no effect on primary cilia formation in starved fibroblasts from a patient also carrying a mutation creating a frameshift and a premature stop codon; partial rescue of ciliation defects in an MKS1-knockdown cell line; no effect on the localization to the transition zone [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000674523 CA8669218 rs760184188 |
423 | T>I | Bardet-Biedl syndrome 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000672241 rs1555597302 |
430 | T>missing | Bardet-Biedl syndrome 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755841031 RCV000593432 CA8669170 RCV001245265 COSM4151686 RCV001829646 RCV001821723 |
433 | T>M | kidney Joubert syndrome Meckel syndrome, type 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1325790652 CA400324981 RCV001067422 |
439 | L>P | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs367625961 RCV001850733 RCV002524429 RCV000291999 CA8669167 RCV000346858 RCV000592032 |
441 | T>M | Bardet-Biedl syndrome 13 Variant assessed as Somatic; 0.0 impact. Joubert syndrome Meckel syndrome, type 1 Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8669164 RCV002485891 RCV001855652 RCV000731104 rs754930606 |
442 | V>G | Bardet-Biedl syndrome 13 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000668262 rs1555597266 |
444 | E>V | Bardet-Biedl syndrome 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001578757 RCV001128316 RCV001003078 CA8669161 rs200865108 RCV001122598 RCV001087577 VAR_062291 RCV000280753 RCV001820804 |
450 | I>T | Bardet-Biedl syndrome 13 Joubert syndrome Bardet-Biedl syndrome Joubert syndrome 28 Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8669156 rs199927741 RCV002519110 RCV001855102 RCV000284786 |
455 | E>Q | Joubert syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001246147 rs1968562983 |
457 | E>Q | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA273751 rs730882120 RCV000670058 RCV002515117 RCV000161134 |
461 | Y>C | Bardet-Biedl syndrome 13 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs766392300 RCV000706163 CA292008166 |
463 | R>G | Joubert syndrome (jbts) Joubert syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001083793 RCV000285730 RCV001094550 RCV000400230 CA8669152 RCV000514906 RCV000335464 rs201619500 |
463 | R>Q | Bardet-Biedl syndrome 13 Joubert syndrome Bardet-Biedl syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs766392300 COSM3820056 CA8669153 RCV001343719 RCV001825896 |
463 | R>W | Joubert syndrome (jbts) Variant assessed as Somatic; 0.0 impact. Joubert syndrome breast Meckel syndrome, type 1 [Ensembl, NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000410219 rs865870355 RCV001213563 RCV002502436 RCV000410881 RCV000412320 |
465 | P>missing | Bardet-Biedl syndrome 13 Joubert syndrome Joubert syndrome 28 Meckel syndrome, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002521975 RCV001271768 RCV000286170 RCV000780412 rs181513926 CA8669128 |
472 | R>C | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs181513926 CA8669129 RCV000812860 RCV001272921 |
472 | R>G | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200026560 CA8669124 RCV001242895 RCV000518872 RCV001829522 |
475 | R>H | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555596845 RCV000673842 |
479 | R>missing | Bardet-Biedl syndrome 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001128313 RCV000224657 CA206807 RCV000193368 rs111315726 RCV001082508 RCV001128312 |
479 | R>H | Bardet-Biedl syndrome 13 Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001781381 RCV000984282 RCV000230084 RCV000340753 rs386834044 RCV001063563 RCV000050030 RCV000984283 RCV002496727 |
485 | T>missing | Bardet-Biedl syndrome 13 Joubert syndrome Joubert syndrome 28 Meckel syndrome, type 1 MKS1-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1003579700 RCV001578759 RCV000730343 RCV001578760 RCV001578758 CA292007811 |
489 | R>C | Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA251777 RCV002465439 VAR_062292 RCV001578018 RCV000001458 RCV000626942 RCV001729331 RCV001239533 RCV000665962 rs137853105 |
492 | C>W | Joubert syndrome (jbts) Bardet-Biedl syndrome 13 Joubert syndrome Polydactyly Joubert syndrome 28 BBS13 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs761944624 RCV001836312 RCV001323442 CA8669116 |
493 | L>M | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA344745 rs386834045 RCV000050031 |
497 | R>K | Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002272321 RCV000671499 rs780161503 RCV002532109 |
499 | F>missing | Bardet-Biedl syndrome 13 Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002531094 RCV000591463 CA8669095 RCV003224344 rs758838271 |
502 | S>W | Joubert syndrome Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000201584 rs863225204 |
510 | R>missing | Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555596710 RCV000667132 RCV001731864 RCV002530708 |
511 | S>missing | Bardet-Biedl syndrome 13 Joubert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002535404 CA8669069 RCV000734943 rs767250536 |
530 | E>D | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002533097 RCV000729054 rs745946583 CA8669066 |
533 | R>C | Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA292007497 COSM262028 rs772719574 RCV000669895 RCV001830443 RCV001201422 |
534 | R>* | Bardet-Biedl syndrome 13 Variant assessed as Somatic; 0.0 impact. Joubert syndrome large_intestine Meckel syndrome, type 1 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM240674 RCV002535331 RCV000733443 CA8669061 rs768171144 |
536 | R>W | Joubert syndrome prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001271767 RCV000664903 CA350413 rs35464956 COSM3691704 RCV000206374 |
537 | R>C | Bardet-Biedl syndrome 13 Joubert syndrome large_intestine Meckel syndrome, type 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555596555 RCV000670665 |
539 | M>missing | Bardet-Biedl syndrome 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000665955 CA400324272 RCV002532048 rs1555596538 |
541 | E>* | Bardet-Biedl syndrome 13 Joubert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8669055 RCV001037560 RCV000593854 RCV001829682 rs748406509 |
543 | R>W | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA292007360 RCV001827347 rs915370426 RCV001054824 |
553 | P>S | Joubert syndrome Meckel syndrome, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs377040370 CA8669671 |
2 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400328239 rs1164077334 |
5 | V>I | No |
ClinGen gnomAD |
|
|
rs980185244 CA292016770 |
6 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs980185244 CA400328226 |
6 | W>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 6 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275193064 CA400328222 |
7 | S>N | No |
ClinGen Ensembl |
|
|
rs754729482 CA8669668 |
8 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1021790535 CA292016760 |
10 | T>A | No |
ClinGen TOPMed |
|
|
CA400328202 rs1268882545 |
10 | T>N | No |
ClinGen gnomAD |
|
|
rs375223375 CA400328197 |
11 | G>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs762103206 CA8669665 CA400328199 |
11 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762103206 CA400328198 |
11 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400328195 rs1183365510 |
12 | E>K | No |
ClinGen TOPMed |
|
|
CA400328185 rs1290085395 |
13 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1290085395 CA400328187 |
13 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA400328176 rs1238624666 |
14 | V>G | No |
ClinGen gnomAD |
|
|
rs1166824059 CA400328175 |
15 | Y>H | No |
ClinGen TOPMed |
|
|
CA292016735 rs1011348762 |
16 | R>C | No |
ClinGen TOPMed |
|
|
CA400328139 rs1438292552 |
20 | P>L | No |
ClinGen gnomAD |
|
|
CA400328144 rs1281315294 |
20 | P>T | No |
ClinGen gnomAD |
|
|
rs1376789752 CA400328134 |
21 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA400328132 rs1031187314 |
22 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA292016707 rs987846752 |
22 | R>L | No |
ClinGen Ensembl |
|
|
CA400328118 rs1400313791 |
24 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs999753696 CA292016702 |
25 | R>H | No |
ClinGen TOPMed |
|
|
CA292016694 rs901426602 |
26 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1457838607 CA400328099 |
27 | R>L | No |
ClinGen gnomAD |
|
|
CA400328085 rs201957874 |
28 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1598007008 CA400328081 |
29 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 29 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214897554 CA400328070 |
31 | Q>E | No |
ClinGen gnomAD |
|
|
rs767646864 CA8669643 |
31 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212528189 CA400328053 |
33 | I>N | No |
ClinGen gnomAD |
|
|
rs587779734 CA8669641 |
37 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400328026 rs1409024170 |
37 | N>K | No |
ClinGen TOPMed |
|
|
VAR_060161 CA292016344 rs11653070 |
39 | L>F | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA400328000 rs1360195350 |
41 | Y>F | No |
ClinGen gnomAD |
|
|
rs1311306088 CA400327984 |
43 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1382730286 CA400327972 |
45 | A>G | No |
ClinGen TOPMed |
|
|
rs1567808465 CA400327975 |
45 | A>S | No |
ClinGen Ensembl |
|
|
CA8669638 rs183617764 |
46 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748133097 CA8669637 |
49 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8669636 rs776363123 |
50 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8669635 rs368169919 |
51 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8669634 rs746450191 |
52 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000731630 CA400327912 rs1567808384 |
55 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8669633 rs779521346 |
55 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1183027576 CA400327881 |
59 | P>L | No |
ClinGen gnomAD |
|
|
rs1044692091 CA292016300 |
61 | P>R | No |
ClinGen TOPMed |
|
|
rs758090787 CA8669632 |
62 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567808334 CA400327862 |
63 | A>T | No |
ClinGen Ensembl |
|
|
rs755502660 CA8669608 |
64 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292015033 rs756716716 |
66 | H>Y | No |
ClinGen Ensembl |
|
|
CA8669604 rs750702019 |
70 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8669599 rs775351056 CA8669600 |
75 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763949111 CA8669601 |
75 | E>K | No |
ClinGen ExAC |
|
|
rs786204222 CA400327751 |
78 | I>T | No |
ClinGen gnomAD |
|
|
CA8669597 rs759008278 |
79 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM561602 rs774076532 CA8669596 |
79 | G>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA400327724 rs1267743604 |
82 | E>G | No |
ClinGen gnomAD |
|
|
rs1269271727 CA400327688 |
87 | Q>E | No |
ClinGen gnomAD |
|
|
rs886053170 CA400327666 |
88 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs886053170 CA400327667 |
88 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8669572 rs367668056 |
90 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400327646 RCV000514746 rs1404195978 |
91 | D>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs76838735 CA400327629 |
94 | Q>E | No |
ClinGen TOPMed |
|
|
CA400327624 rs772742739 |
94 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292014768 rs76838735 |
94 | Q>K | No |
ClinGen TOPMed |
|
|
CA292014757 rs76192155 |
96 | E>K | No |
ClinGen Ensembl |
|
|
CA400327596 rs1440750700 |
98 | A>V | No |
ClinGen TOPMed |
|
|
CA400327593 rs1170310363 |
99 | C>G | No |
ClinGen gnomAD |
|
|
rs1451544203 CA400327575 |
101 | S>T | No |
ClinGen gnomAD |
|
|
rs201574278 CA8669568 |
103 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1258822362 CA400327540 |
106 | Q>R | No |
ClinGen gnomAD |
|
|
rs1168199157 CA400327529 |
107 | Y>* | No |
ClinGen TOPMed |
|
| TCGA novel | 110 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs886044605 CA400327507 |
111 | I>V | No |
ClinGen gnomAD |
|
|
CA400327491 rs1342346516 |
113 | K>N | No |
ClinGen gnomAD |
|
|
rs777934536 CA8669564 |
115 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs755927059 CA8669563 COSM981759 |
117 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA400327463 rs1356916781 |
118 | G>R | No |
ClinGen TOPMed |
|
|
rs751455442 CA8669560 |
120 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1312861325 CA400327450 |
120 | K>Q | No |
ClinGen gnomAD |
|
|
CA8669561 rs767269565 |
120 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8669558 rs765809969 |
122 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1471955218 CA400327415 |
126 | F>S | No |
ClinGen gnomAD |
|
|
rs1466186233 CA400327409 |
127 | T>A | No |
ClinGen gnomAD |
|
|
CA292014661 rs1036618109 |
128 | Y>* | No |
ClinGen Ensembl |
|
|
CA8669552 rs776068083 |
128 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA292014684 rs75699185 |
128 | Y>H | No |
ClinGen Ensembl |
|
|
CA8669551 rs374506610 |
129 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8669549 rs747461404 |
134 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA400327351 rs1207669104 |
136 | N>D | No |
ClinGen gnomAD |
|
|
rs749341221 CA8669547 |
138 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8669521 rs200332126 |
141 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400327302 rs1479217129 |
141 | C>Y | No |
ClinGen gnomAD |
|
|
rs185130897 CA292013926 |
143 | R>G | No |
ClinGen 1000Genomes |
|
|
rs1187507531 CA400327288 |
143 | R>S | No |
ClinGen gnomAD |
|
|
rs1463305225 CA400327274 |
145 | T>N | No |
ClinGen gnomAD |
|
|
rs1249328656 CA400327265 |
147 | A>T | No |
ClinGen gnomAD |
|
|
CA400327261 rs1376838481 |
147 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 148 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441703688 CA400327245 |
150 | E>K | No |
ClinGen gnomAD |
|
|
CA400327229 rs1220688429 |
152 | P>H | No |
ClinGen gnomAD |
|
|
CA8669517 rs576624384 |
154 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753579811 CA8669516 |
154 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431579746 CA400327203 |
156 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8669511 rs373471917 |
158 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370013310 CA8669510 |
159 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8669509 rs761830955 |
160 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776666925 CA8669508 |
161 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 161 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 162 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8669507 rs370568445 |
164 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215189491 CA400327149 |
167 | Q>K | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen gnomAD |
|
rs754601373 CA8669478 |
175 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8669477 rs527350238 |
175 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8669473 rs145764409 |
180 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8669474 rs145764409 |
180 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764242484 CA400327049 |
181 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs764242484 RCV000591184 CA8669472 |
181 | I>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA8669470 rs775805558 |
183 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292013581 rs571769092 |
185 | E>G | No |
ClinGen Ensembl |
|
|
rs373755286 CA8669469 |
185 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1423275977 CA400326995 |
189 | E>G | No |
ClinGen gnomAD |
|
|
rs1195695177 CA400326990 |
190 | F>I | No |
ClinGen gnomAD |
|
|
rs1474687527 CA400326980 |
191 | V>D | No |
ClinGen TOPMed |
|
|
rs1469110340 CA400326983 |
191 | V>I | No |
ClinGen gnomAD |
|
|
rs759802849 CA8669468 |
194 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 194 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400326923 rs1441531378 |
199 | T>S | No |
ClinGen gnomAD |
|
|
rs1303915727 CA400326894 |
204 | M>V | No |
ClinGen gnomAD |
|
|
rs1186426432 CA400326881 |
205 | H>R | No |
ClinGen TOPMed |
|
|
rs772982926 CA8669465 |
206 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597994739 CA400326877 |
206 | I>V | No |
ClinGen Ensembl |
|
|
CA292013546 rs1022156989 |
211 | G>E | No |
ClinGen TOPMed |
|
|
rs780721543 CA8669461 |
213 | Y>D | No |
ClinGen ExAC |
|
|
CA400326827 rs1302221349 |
214 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 215 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8669444 rs201758855 |
218 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400326786 rs201758855 |
218 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8669443 rs776172667 |
223 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA400326703 rs1567802641 RCV000728705 |
230 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1413306907 CA400326672 |
234 | G>A | No |
ClinGen TOPMed |
|
|
rs746666115 CA8669441 |
234 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA400326675 rs746666115 |
234 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs557691735 CA292013220 |
235 | V>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA8669440 rs376785849 |
238 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 238 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378969681 CA400326641 |
239 | K>N | No |
ClinGen gnomAD |
|
|
CA8669439 rs771310059 |
240 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA400326620 rs1293228274 |
242 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1197155331 CA400326616 |
243 | T>S | No |
ClinGen gnomAD |
|
|
rs1357229502 CA400326596 |
246 | K>R | No |
ClinGen gnomAD |
|
|
CA400326573 rs1472853273 |
250 | R>G | No |
ClinGen gnomAD |
|
|
CA292012920 rs1042487654 |
251 | I>V | No |
ClinGen Ensembl |
|
|
CA400326546 rs1326729220 |
252 | E>K | No |
ClinGen gnomAD |
|
|
rs745531071 CA8669419 |
253 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8669418 rs778058178 |
253 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8669412 rs780276924 |
256 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA400326514 rs1253067181 |
257 | K>R | No |
ClinGen gnomAD |
|
|
CA400326508 rs1463443114 |
258 | Q>K | No |
ClinGen gnomAD |
|
|
CA400326506 rs1286284943 |
258 | Q>R | No |
ClinGen gnomAD |
|
|
CA400326491 rs1182924920 |
260 | L>P | No |
ClinGen TOPMed |
|
|
CA400326483 rs1285966721 |
261 | W>* | No |
ClinGen gnomAD |
|
|
CA400326488 rs1224092160 |
261 | W>R | No |
ClinGen gnomAD |
|
|
CA8669410 rs561482424 |
264 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8669408 rs764943455 COSM673599 |
266 | D>N | upper_aerodigestive_tract endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA400326445 rs1355030646 |
267 | N>D | No |
ClinGen gnomAD |
|
|
CA8669407 rs757032985 |
267 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567771507 CA292012876 |
269 | S>A | No |
ClinGen Ensembl |
|
|
CA292012875 rs935450030 |
269 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA292012872 rs368751106 |
270 | P>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8669404 rs201771125 |
271 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400326418 rs886044205 |
272 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV000264989 CA10606479 rs886044205 |
272 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs777103638 CA8669398 |
275 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs911132717 CA292012793 |
278 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 280 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400326362 rs1406421081 |
280 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8669394 rs780007842 |
281 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8669393 rs184444815 |
282 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1597991386 CA400326350 |
283 | V>G | No |
ClinGen Ensembl |
|
|
rs779149583 CA8669391 |
285 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755916212 CA292012492 |
287 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8669372 rs777558323 RCV000595372 COSM1384670 |
290 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA400326284 rs1170460125 |
292 | K>R | No |
ClinGen gnomAD |
|
|
CA400326249 rs1450226855 |
297 | S>G | No |
ClinGen TOPMed |
|
|
CA292012469 rs78774579 |
298 | L>F | No |
ClinGen ESP gnomAD |
|
|
COSM1215150 rs751146857 CA8669367 |
299 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA400326223 rs1555599203 RCV000501116 |
301 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs761070122 CA8669362 |
305 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA400326194 rs1597990036 |
305 | M>T | No |
ClinGen Ensembl |
|
|
rs761528251 CA8669344 |
306 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1304907848 CA400326146 |
311 | L>H | No |
ClinGen gnomAD |
|
|
rs369483945 CA400326141 |
312 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369483945 CA8669341 |
312 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369483945 CA400326142 |
312 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs767763740 CA8669342 |
312 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8669339 rs771030303 |
315 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA400326125 rs774654581 |
315 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8669340 rs774654581 |
315 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs773255938 CA8669337 |
318 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs762973500 CA8669338 |
318 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1393510784 CA400326101 |
319 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA400326102 rs1393510784 |
319 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8669317 rs776673480 |
324 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs991364235 CA292011699 |
325 | Y>C | No |
ClinGen TOPMed |
|
|
CA8669316 rs768515749 |
326 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA400326029 rs1211138175 |
328 | D>G | No |
ClinGen gnomAD |
|
|
CA400326028 rs1211138175 |
328 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 331 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775391594 CA400326002 |
332 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8669313 rs772205041 |
336 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA400325967 rs1332731542 |
337 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8669312 COSM561606 rs745789469 |
337 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1178977255 CA400325950 |
340 | T>A | No |
ClinGen TOPMed |
|
|
CA400325936 rs1357107885 |
342 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs567026924 CA292009158 |
343 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs922360200 CA292009165 |
343 | W>R | No |
ClinGen Ensembl |
|
|
rs567026924 CA8669300 |
343 | W>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8669299 rs760971749 |
344 | S>* | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
rs972424896 CA292009144 |
349 | Q>H | No |
ClinGen Ensembl |
|
|
rs375559691 CA292009146 |
349 | Q>R | No |
ClinGen ESP TOPMed |
|
|
CA8669297 rs771939064 |
353 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268138960 CA400325850 |
354 | V>L | No |
ClinGen TOPMed |
|
|
rs774391311 CA8669295 |
357 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA400325816 rs1397280567 |
359 | T>I | No |
ClinGen gnomAD |
|
|
CA8669293 rs770497568 |
360 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440032995 CA400325780 |
365 | M>I | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen TOPMed |
|
CA292009103 rs750926734 COSM436975 |
365 | M>V | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1374437999 CA400325761 CA400325760 |
366 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA292008818 rs878989068 |
367 | K>E | No |
ClinGen Ensembl |
|
|
CA400325754 rs1192776278 |
367 | K>N | No |
ClinGen TOPMed |
|
|
CA8669258 rs762800635 |
368 | V>M | No |
ClinGen ExAC |
|
|
CA292008817 rs985013363 |
370 | H>P | No |
ClinGen TOPMed |
|
|
rs1171331449 CA400325736 |
370 | H>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 370 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433377596 CA400325724 COSM706711 |
372 | S>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs773157492 CA8669257 |
374 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000311270 CA10606605 rs886044314 |
374 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8669256 rs769312467 |
375 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA400325697 rs1298053966 |
377 | F>I | No |
ClinGen TOPMed |
|
|
CA400325694 rs1567796772 |
377 | F>S | No |
ClinGen Ensembl |
|
|
rs774595103 CA8669250 |
380 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA8669249 rs771262017 |
382 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA400325652 rs1337963181 |
383 | H>R | No |
ClinGen gnomAD |
|
|
rs1401192823 CA400325614 |
388 | S>C | No |
ClinGen gnomAD |
|
|
CA400325617 rs1272465940 |
388 | S>P | No |
ClinGen gnomAD |
|
|
rs373004412 CA292008689 |
389 | D>V | No |
ClinGen ESP TOPMed |
|
|
CA400325595 rs1278555332 |
390 | A>T | No |
ClinGen gnomAD |
|
|
CA292008688 rs1007977525 |
390 | A>V | No |
ClinGen TOPMed |
|
|
rs1439633228 CA400325583 |
392 | P>A | No |
ClinGen gnomAD |
|
|
CA400325572 rs1422032983 |
393 | E>D | No |
ClinGen TOPMed |
|
|
rs889084910 CA292008668 |
394 | W>C | No |
ClinGen TOPMed |
|
|
CA400325534 rs144764478 |
399 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400325522 rs1166766268 |
401 | V>I | No |
ClinGen gnomAD |
|
|
rs1555597681 RCV000504478 CA400325515 |
402 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs773684291 CA8669232 |
403 | S>W | Joubert syndrome (jbts) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400325497 rs1240101157 |
405 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA400325486 rs1468389010 |
407 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 409 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8669226 rs774267957 |
410 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774267957 CA400325460 |
410 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201036775 CA292008639 |
411 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA400325440 rs1178459205 |
414 | G>S | No |
ClinGen TOPMed |
|
|
rs765002709 CA8669222 |
415 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000732371 rs1567796331 |
417 | A>missing | No |
ClinVar dbSNP |
|
|
rs1555597614 RCV000594309 CA400325415 |
418 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA400325393 rs1327805521 |
422 | A>T | No |
ClinGen gnomAD |
|
|
rs763627565 CA8669219 |
423 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000734908 CA8669217 rs774840755 |
425 | G>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs141741656 CA8669176 |
427 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400325051 rs1211784754 |
428 | T>P | No |
ClinGen gnomAD |
|
|
CA400325049 rs1211784754 |
428 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 429 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774384333 CA8669171 |
432 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs759662552 CA8669172 |
432 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 434 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA292008237 rs931815149 |
436 | P>S | No |
ClinGen Ensembl |
|
|
RCV000299650 CA10605639 rs886043544 |
437 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8669168 rs773075697 |
440 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA400324959 rs1419374595 |
443 | A>V | No |
ClinGen TOPMed |
|
|
rs779697924 CA8669162 |
447 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA400324934 rs1294257326 RCV000729379 |
447 | R>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1567795377 RCV000733094 CA400324927 |
448 | F>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA400324924 TCGA novel rs1191657102 |
449 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA8669158 rs538819956 |
452 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1597977517 CA400324892 |
454 | L>V | No |
ClinGen Ensembl |
|
|
CA400324882 rs1354483517 |
455 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1395940683 CA400324878 |
456 | L>P | No |
ClinGen TOPMed |
|
|
rs1567795242 CA400324880 |
456 | L>V | No |
ClinGen Ensembl |
|
|
rs1313546665 CA400324870 |
457 | E>D | No |
ClinGen TOPMed |
|
|
CA400324860 rs1217066269 |
459 | L>V | No |
ClinGen TOPMed |
|
|
CA8669155 rs760032525 |
460 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393954275 CA400324819 |
466 | G>* | No |
ClinGen gnomAD |
|
|
rs1024298383 CA292008157 |
466 | G>A | No |
ClinGen Ensembl |
|
|
rs566204379 CA8669132 |
470 | G>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776303055 CA400324777 |
471 | E>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000729282 rs776303055 CA8669131 |
471 | E>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs772114886 CA8669126 |
472 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772114886 CA8669127 |
472 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 474 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8669125 rs529604036 |
475 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1359228640 CA400324747 |
476 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs770548274 CA8669123 |
477 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs769442220 CA8669122 |
479 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400324723 rs1411418411 |
480 | T>I | No |
ClinGen gnomAD |
|
|
rs962001500 CA292007833 |
482 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs369380403 CA8669120 |
483 | T>P | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1473936553 CA400324703 |
484 | G>S | No |
ClinGen gnomAD |
|
|
rs758937277 CA8669118 |
488 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA292007800 rs916562674 |
489 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs916562674 CA400324670 |
489 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8669117 rs750522668 |
492 | C>Y | No |
ClinGen ExAC |
|
|
rs1218016890 CA400324647 |
493 | L>P | No |
ClinGen TOPMed |
|
|
CA400324625 rs764000969 |
496 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8669114 rs764000969 |
496 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144635826 CA8669097 |
500 | M>V | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA400324579 rs1355211474 |
501 | E>* | No |
ClinGen gnomAD |
|
|
rs758838271 CA8669096 |
502 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA400324563 rs1328968692 |
503 | S>G | No |
ClinGen TOPMed |
|
|
CA400324561 rs1597975054 |
503 | S>N | No |
ClinGen Ensembl |
|
|
CA400324517 rs1052263756 |
508 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA292007619 rs1052263756 |
508 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778890248 CA8669094 |
509 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757310695 CA400324504 |
510 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400324503 rs373843986 |
510 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373843986 CA8669092 |
510 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757310695 COSM1384669 CA8669093 |
510 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA292007604 rs9906421 |
511 | S>G | No |
ClinGen TOPMed |
|
|
rs9906421 CA400324498 |
511 | S>R | No |
ClinGen TOPMed |
|
|
rs1567794194 CA400324487 |
512 | V>A | No |
ClinGen Ensembl |
|
|
rs370130538 CA292007602 |
512 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs775558298 CA8669091 |
515 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775558298 CA292007584 |
515 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200658872 CA8669090 |
515 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200658872 CA8669089 |
515 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA292007573 rs200658872 |
515 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400324458 rs1176653635 |
516 | L>P | No |
ClinGen TOPMed |
|
|
CA8669088 rs767285168 |
518 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1423720161 CA400324424 |
520 | S>N | No |
ClinGen gnomAD |
|
|
rs1379192126 CA400324394 |
523 | S>R | No |
ClinGen TOPMed |
|
|
CA8669087 rs759400183 |
524 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA292007564 rs910963522 |
525 | I>L | No |
ClinGen TOPMed |
|
|
CA8669086 rs774309110 |
527 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400324356 RCV000598109 rs1555596664 |
528 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs751294519 CA8669068 |
531 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA8669067 rs751294519 |
531 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1347023400 CA400324319 |
532 | F>L | No |
ClinGen gnomAD |
|
|
CA8669065 rs779093781 COSM473092 |
533 | R>H | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs779093781 CA292007502 |
533 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273756 rs199910690 |
534 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1396485350 CA400324301 |
535 | A>V | No |
ClinGen TOPMed |
|
|
CA8669060 rs746283445 |
536 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8669059 rs771624307 |
537 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs34631184 CA8669058 |
538 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8669057 rs557678962 |
538 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8669056 rs557678962 |
538 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1457241426 CA400324283 |
539 | M>I | No |
ClinGen gnomAD |
|
|
CA400324289 rs1181990344 |
539 | M>V | No |
ClinGen gnomAD |
|
|
CA292007454 rs928205108 |
540 | Q>R | No |
ClinGen Ensembl |
|
|
CA400324266 rs1216634734 |
542 | A>T | No |
ClinGen TOPMed |
|
|
rs1200480979 CA400324259 |
543 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs755128244 CA8669053 |
545 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA292007394 rs545364645 |
545 | S>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA400324239 rs1567793607 |
546 | L>H | No |
ClinGen Ensembl |
|
|
CA241063 rs771585740 |
547 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400324233 rs771585740 |
547 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8669052 rs751425104 |
547 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1376291853 CA400324215 |
550 | L>V | No |
ClinGen gnomAD |
|
|
CA8669049 rs764747820 |
554 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400324176 rs1456047976 |
556 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 556 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400324169 rs1235845808 |
558 | V>L | No |
ClinGen gnomAD |
|
|
CA400324157 rs1286667377 |
560 | S>Q | No |
ClinGen gnomAD |
3 associated diseases with Q9NXB0
[MIM: 249000]: Meckel syndrome 1 (MKS1)
A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269|PubMed:16415886, ECO:0000269|PubMed:19466712, ECO:0000269|PubMed:26490104}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 615990]: Bardet-Biedl syndrome 13 (BBS13)
A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:18327255}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617121]: Joubert syndrome 28 (JBTS28)
A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS28 inheritance is autosomal recessive. {ECO:0000269|PubMed:24886560}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269|PubMed:16415886, ECO:0000269|PubMed:19466712, ECO:0000269|PubMed:26490104}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:18327255}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS28 inheritance is autosomal recessive. {ECO:0000269|PubMed:24886560}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9NXB0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NXB0 | |||
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| centriole | A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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 |
18 GO annotations of biological process
| Name | Definition |
|---|---|
| branching morphogenesis of an epithelial tube | The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. |
| cardiac septum morphogenesis | The process in which the anatomical structure of a cardiac septum is generated and organized. A cardiac septum is a partition that separates parts of the heart. |
| 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. |
| common bile duct development | The progression of the common bile duct over time, from its formation to the mature structure. The common bile duct is formed from the joining of the common hepatic duct running from the liver, and the cystic duct running from the gall bladder. The common bile duct transports bile from the liver and gall bladder to the intestine. |
| 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. |
| embryonic digit morphogenesis | The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe. |
| embryonic skeletal system development | The process, occurring during the embryonic phase, whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. |
| epithelial structure maintenance | A tissue homeostatic process required for the maintenance of epithelial structure. |
| head development | The biological process whose specific outcome is the progression of a head from an initial condition to its mature state. The head is the anterior-most division of the body. |
| inner ear receptor cell stereocilium organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a stereocilium. A stereocilium is an actin-based protrusion from the apical surface of inner ear receptor cells. |
| 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. |
| regulation of canonical Wnt signaling pathway | Any process that modulates the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning | Any process that modulates the frequency, rate or extent of smoothened signaling pathway involved in dorsal/ventral neural tube patterning. |
| regulation of Wnt signaling pathway, planar cell polarity pathway | Any process that modulates the frequency, rate or extent of Wnt signaling pathway, planar cell polarity pathway. |
| smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation | The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened contributing to the modulation of the frequency, rate or extent of cardioblast proliferation in the secondary heart field. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAETVWSTDT | GEAVYRSRDP | VRNLRLRVHL | QRITSSNFLH | YQPAAELGKD | LIDLATFRPQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PTASGHRPEE | DEEEEIVIGW | QEKLFSQFEV | DLYQNETACQ | SPLDYQYRQE | ILKLENSGGK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KNRRIFTYTD | SDRYTNLEEH | CQRMTTAASE | VPSFLVERMA | NVRRRRQDRR | GMEGGILKSR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IVTWEPSEEF | VRNNHVINTP | LQTMHIMADL | GPYKKLGYKK | YEHVLCTLKV | DSNGVITVKP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DFTGLKGPYR | IETEGEKQEL | WKYTIDNVSP | HAQPEEEERE | RRVFKDLYGR | HKEYLSSLVG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TDFEMTVPGA | LRLFVNGEVV | SAQGYEYDNL | YVHFFVELPT | AHWSSPAFQQ | LSGVTQTCTT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KSLAMDKVAH | FSYPFTFEAF | FLHEDESSDA | LPEWPVLYCE | VLSLDFWQRY | RVEGYGAVVL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PATPGSHTLT | VSTWRPVELG | TVAELRRFFI | GGSLELEDLS | YVRIPGSFKG | ERLSRFGLRT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ETTGTVTFRL | HCLQQSRAFM | ESSSLQKRMR | SVLDRLEGFS | QQSSIHNVLE | AFRRARRRMQ |
| 550 | |||||
| EARESLPQDL | VSPSGTLVS |