Q8TD16
SS
Gene name |
BICD2 (KIAA0699) |
Protein name |
Protein bicaudal D homolog 2 |
Names |
Bic-D 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23299 |
EC number |
|
Protein Class |
|
Descriptions
Protein bicaudal D homolog 1 (BICD1) is a protein that regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum transport by recruiting the dynein-dynactin motor complex. Autoinhibition of BICD1 involves the C-terminal coiled-coil region (CC3) binding to the N-terminal coiled-coil region (CC1), preventing interaction with cytoplasmic dynein. This interaction inhibits the association with cytoplasmic dynein and its cargo-binding function. A structural rearrangement of the core packing in a homodimeric coiled-coil stimulates the release of CC1 from the CC3 region following cargo-binding. Additionally, the three residues (Glu772, Ile784, and Lys787), which are required for Rab6 binding, play a critical role in maintaining the autoinhibitory state through direct interaction with the N-terminal CC1 region.
Autoinhibitory domains (AIDs)
Target domain |
10-315 (CC1 region) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q8TD16
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6OFP | X-ray | 201 A | A/B | 715-804 | PDB |
| 6PSE | X-ray | 240 A | A/B | 1-98 | PDB |
| AF-Q8TD16-F1 | Predicted | AlphaFoldDB |
873 variants for Q8TD16
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2131542823 RCV001867739 |
1 | M>L | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769376640 RCV001485645 |
5 | S>L | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs751269137 RCV001244781 |
9 | E>missing | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001874618 rs2131542772 |
9 | E>D | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1340902320 RCV000550355 CA374033216 |
13 | L>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002354843 RCV002066244 rs780000539 |
20 | E>K | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001361978 rs780000539 |
20 | E>Q | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001310033 rs758212511 |
22 | L>V | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001896819 RCV003375422 rs575275088 |
27 | K>E | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001221342 rs1271773744 |
30 | S>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1554709923 CA374032159 RCV000555539 |
31 | H>Y | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1564076641 RCV000714657 |
32 | E>Q | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs776420993 RCV001351819 |
45 | E>Q | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs779949554 RCV002544119 RCV001774260 |
54 | K>N | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1854442288 RCV001315827 |
55 | H>D | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs150915279 RCV001330081 |
55 | H>Q | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
rs935505713 RCV002409383 RCV001039946 |
62 | E>A | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA5126871 RCV000651520 RCV002422408 rs141519259 |
68 | Y>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001986057 rs2131542548 |
71 | I>T | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1854440556 RCV001322771 |
75 | M>I | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000804711 rs1587675774 |
83 | G>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000224292 rs61754130 CA5126852 RCV000431161 RCV002429084 VAR_070111 RCV001081222 RCV000516078 RCV000789077 |
90 | K>R | Hereditary spastic paraplegia Neuronopathy, distal hereditary motor, autosomal dominant Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs749242497 RCV001244648 RCV002568596 |
96 | G>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV003146305 RCV001881347 rs751756270 |
99 | R>W | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000651522 CA374027264 RCV003321708 rs1554706635 |
101 | E>K | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1853629682 RCV001338790 |
102 | S>I | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000789078 rs398123028 VAR_070112 CA143964 RCV000049274 RCV001546050 COSM198647 RCV000509172 |
107 | S>L | Neuronopathy, distal hereditary motor, autosomal dominant Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures large_intestine Spinal muscular atrophy SMALED2A; causes Golgi fragmentation; affects interaction with RAB6A and DNAI1 and the subcellular location of the protein [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV001914671 RCV002552272 rs767127458 |
116 | R>W | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5126835 rs377156663 RCV000651524 RCV000483085 |
119 | L>I | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003089128 RCV002454588 RCV002214493 rs1477596230 |
122 | Q>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs372717499 RCV000822088 |
123 | T>M | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1490576971 RCV000810459 RCV002345834 |
124 | E>D | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs780485203 RCV002568289 RCV001547256 |
129 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000795136 rs142827536 |
130 | N>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002322115 rs758588310 RCV001231217 |
135 | T>M | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs779298360 RCV003432996 COSM3943112 RCV001044114 |
137 | S>L | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures oesophagus [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000613819 RCV001232010 CA5126822 rs764759240 |
147 | Q>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001977008 rs1853491424 |
152 | I>F | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs2131504307 RCV002008089 |
153 | N>I | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1853491158 RCV001294799 |
155 | N>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA5126797 rs754493702 RCV000444722 RCV001369357 |
160 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs766087023 RCV001171508 |
162 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000685412 COSM198643 rs761506224 |
162 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002159807 rs376208721 |
166 | D>N | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1207286970 RCV002343864 RCV001869467 RCV001811806 |
176 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1207286970 RCV001350901 |
176 | R>L | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000049276 CA143968 rs398123029 VAR_070113 |
188 | N>T | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures SMALED2A; causes Golgi fragmentation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1587671674 VAR_070114 RCV003581710 RCV000789079 RCV001724155 |
189 | I>F | Neuronopathy, distal hereditary motor, autosomal dominant Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures SMALED2A [ClinVar, UniProt] | Yes |
ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs2131504104 RCV001883381 |
189 | I>M | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000754662 rs1564061982 VAR_081854 |
194 | Q>R | Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant SMALED2B [ClinVar, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
rs1853487156 RCV001056092 |
196 | S>F | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002356790 rs201274230 CA5126778 RCV000486389 RCV000816794 |
201 | N>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1853448827 RCV001303832 |
208 | L>P | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs755962512 RCV000521456 RCV000806547 RCV002358419 CA5126753 |
213 | K>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5126752 RCV001092274 rs201293367 RCV000538797 |
214 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002553167 rs373760993 COSM2731935 COSM4620875 RCV001047620 |
214 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001219378 rs370390769 |
219 | T>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001362797 rs762107122 |
228 | D>E | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV001880209 rs754659441 RCV001391413 |
231 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Spastic paraplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1587670538 RCV000791012 |
235 | I>L | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001066032 rs1183367895 |
235 | I>M | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2131502641 RCV001892280 |
237 | E>G | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000694718 rs201389004 |
238 | R>Q | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000554688 CA196341951 rs369298186 |
242 | E>G | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV002562567 RCV001222827 rs748997644 |
243 | A>V | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
TCGA novel RCV001975464 rs2131502587 |
245 | E>D | Variant assessed as Somatic; MODERATE impact. Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinVar Ensembl dbSNP |
|
rs371897802 RCV001297226 RCV002379996 |
245 | E>K | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001373951 rs148937530 |
249 | T>M | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001864422 rs369847588 |
250 | E>Q | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002391209 RCV002075211 rs533199924 |
251 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001212904 rs1367809298 RCV000516028 CA374043641 |
254 | K>R | Hereditary spastic paraplegia Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001825324 COSM369031 RCV002542775 rs1445458188 |
260 | E>* | lung Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar dbSNP gnomAD |
|
rs779331320 RCV001949806 |
265 | M>L | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs779331320 RCV001893656 |
265 | M>V | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001968004 rs566510315 |
268 | N>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs375710311 RCV000695399 |
270 | S>F | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1853441867 RCV001324991 |
278 | V>A | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM1111169 COSM4870398 rs1271142551 RCV001035525 RCV002505557 |
291 | E>K | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000805773 rs767895612 |
293 | N>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001051991 rs770331418 |
297 | E>K | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002370697 rs2131502289 RCV002029126 |
301 | N>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001056679 rs772599458 |
302 | G>V | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001942456 rs1480204082 |
305 | H>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
COSM5486753 RCV001203090 COSM5486752 RCV003373023 rs753891194 |
319 | T>M | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs571839806 RCV001965391 |
326 | A>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs772728967 RCV001245658 |
327 | P>L | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002372494 RCV001437177 rs147814238 |
327 | P>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002042149 rs761526161 |
329 | S>Y | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001229290 RCV002563723 rs1564060970 |
330 | P>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002022977 rs775155214 RCV002386907 |
331 | S>G | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001343525 rs777795062 |
342 | I>V | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001941397 rs2131502057 |
351 | Q>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000792023 RCV001811483 rs767226677 |
355 | M>L | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs767226677 RCV001867454 |
355 | M>V | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000477998 RCV002413335 rs202119238 RCV000651530 CA5126640 |
357 | R>W | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000789729 rs587777884 RCV002415626 CA233051 RCV000988191 RCV000143797 |
360 | A>V | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001041967 rs374704553 COSM4907900 COSM3908914 |
365 | T>M | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002273178 rs757885234 |
376 | T>A | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
CA5126628 RCV000651535 RCV002442348 rs200325192 |
376 | T>M | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs752402307 RCV001309255 |
377 | R>Q | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001300820 rs1440404997 |
378 | G>A | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002324460 RCV001987027 COSM3413819 rs766132361 |
389 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures central_nervous_system Inborn genetic diseases [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762910297 CA5126620 RCV000544519 |
389 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003144598 rs192669216 RCV000795406 |
390 | L>F | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5126619 RCV001086401 RCV003159696 rs192669216 RCV000519998 |
390 | L>I | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002341446 CA5126617 RCV000560330 RCV001697379 rs144427583 |
393 | N>K | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1853411761 RCV001348841 |
397 | L>V | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002346539 RCV002185658 rs189266003 |
398 | R>W | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002336727 RCV000824380 rs200542458 |
399 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000536360 RCV002341447 CA5126609 rs372251238 |
399 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002346012 rs752209653 RCV000873258 |
401 | Q>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001921949 rs754667036 RCV002359345 |
404 | K>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001910340 rs368361239 |
413 | E>K | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP |
|
rs1853409127 RCV001069897 |
416 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001721485 rs55658812 RCV000651521 CA5126598 RCV002411419 |
417 | D>G | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000814231 rs774663157 |
419 | H>Q | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003278948 CA5126595 RCV000609043 RCV002531603 rs771432118 |
420 | E>A | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001972974 rs2131501032 |
422 | G>E | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1853407945 RCV001201487 |
425 | Y>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs184465241 RCV000796766 |
426 | E>K | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001887660 rs780600581 |
431 | G>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1587669231 RCV000794547 |
438 | K>Q | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs201997144 RCV001520199 COSM462370 |
450 | R>C | cervix Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001036700 COSM4632505 rs545926410 COSM4632506 |
450 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs376220375 RCV001223658 |
457 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002199026 rs370118099 RCV003434450 COSM1111163 RCV002382469 |
457 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures endometrium Inborn genetic diseases [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs376220375 RCV000811255 |
457 | R>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1853404911 RCV001060144 |
458 | S>G | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001672814 RCV000507603 CA5126572 RCV000556696 rs777065935 |
459 | T>M | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs142503252 RCV001875360 |
461 | E>K | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM4139010 rs78319441 RCV000431086 RCV000865507 RCV002393045 CA5126568 |
463 | R>C | kidney Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001996337 rs745500617 |
463 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1564060261 RCV000693699 |
467 | H>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001223059 RCV002393543 rs1853403012 |
472 | G>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002395742 RCV001762566 rs142203302 COSM1497108 RCV001340596 |
473 | R>C | kidney Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [Cosmic, ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs766539334 COSM3908912 COSM4906511 RCV001925866 |
473 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1014182946 RCV000430993 CA16605541 RCV002522443 |
474 | Y>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001365875 rs372840233 |
477 | E>Q | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP |
|
RCV000651518 RCV002395224 CA5126556 RCV000506795 rs140188204 |
480 | A>T | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002395465 RCV000537270 CA5126553 rs761146388 |
482 | T>M | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2131500709 RCV002025012 |
484 | K>T | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000701506 rs199519253 RCV002388313 |
485 | V>F | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1587668983 RCV000821451 |
488 | L>P | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002269299 rs146113445 RCV000651517 RCV002388139 CA5126547 |
493 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1587668960 RCV000798123 |
493 | R>L | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002395466 CA5126543 RCV000549761 rs142985475 |
494 | Q>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001038446 rs1457844438 |
496 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs398123032 CA143974 VAR_070115 RCV000049279 |
501 | R>P | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures SMALED2A; the mutation causes increased interaction with dynein; the mutant protein accumulates abnormally in the perinuclear region where it forms ring-like structures that colocalize with RAB6A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001070018 rs398123032 |
501 | R>Q | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs373224610 RCV002393244 RCV001049459 COSM1701330 |
501 | R>W | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skin Inborn genetic diseases [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA658797226 rs1554705506 RCV000651523 |
504 | K>missing | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs2131500576 RCV001391545 |
508 | K>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000049278 rs398123031 CA143972 VAR_070116 RCV003311674 |
508 | K>T | Hereditary spastic paraplegia 3A Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures SMALED2A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000840903 RCV002068570 rs748921807 |
512 | V>I | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5126527 RCV000497977 RCV002404303 RCV000811828 rs200091763 |
514 | G>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1587668852 RCV002086755 |
515 | E>K | Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs940304129 CA196340551 RCV000551793 RCV003343890 RCV000520632 |
519 | S>I | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1286725301 RCV000701818 |
521 | S>G | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001053756 rs1853397128 |
522 | V>M | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001220829 rs908773556 |
528 | V>L | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000690869 rs908773556 |
528 | V>M | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1472200920 RCV001920721 |
530 | F>L | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA204791 RCV000190756 rs797044920 |
530 | F>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1287163670 RCV001045185 |
531 | S>I | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000789080 rs1587668798 |
535 | A>V | Neuronopathy, distal hereditary motor, autosomal dominant [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA374036769 RCV000622583 RCV003322796 rs1554705485 |
538 | Y>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1564060049 RCV000714719 |
540 | H>D | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| VAR_081855 | 542 | C>W | SMALED2B [UniProt] | Yes | UniProt |
|
RCV001066709 rs1853395351 |
544 | C>Y | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000805633 rs1587668769 |
545 | N>D | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001267512 VAR_081856 RCV000627061 RCV000481650 RCV000754663 rs1064795760 CA16618869 |
546 | N>missing | Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant Inborn genetic diseases Macrocephaly SMALED2B [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP |
|
RCV000702787 rs1370503586 |
546 | N>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1064795760 VAR_081856 |
546 | N>del | SMALED2B [UniProt] | Yes |
UniProt dbSNP |
|
RCV000706519 rs754018322 |
550 | N>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5126520 RCV000651516 rs374912668 RCV000497651 |
553 | M>I | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001069097 rs1587668748 |
556 | Y>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1587668748 RCV000801806 |
556 | Y>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001312264 rs1351684855 |
558 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs1263279945 RCV000995709 |
558 | R>P | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001907830 rs759941912 |
559 | E>K | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000552733 rs916661191 RCV003311846 CA196340391 |
563 | G>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Neuronopathy, distal hereditary motor, type 5B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002040481 rs1302642659 |
565 | G>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000691971 RCV001592881 rs748022488 RCV003420228 |
566 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures BICD2-related condition [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001367077 rs550312355 |
566 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000697649 rs1333312158 |
570 | G>missing | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000517205 rs998616675 CA196340315 RCV001066018 |
570 | G>missing | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1478607428 RCV002048019 |
570 | G>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs777902159 RCV003145284 RCV001046535 COSM390894 |
572 | R>H | lung Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA658657873 RCV000541181 rs1554705455 |
578 | R>missing | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001051352 rs776528966 RCV002400291 |
578 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002544751 rs775229197 |
580 | R>Q | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs573861187 RCV001359678 |
580 | R>W | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs771001231 CA5126488 RCV000553659 RCV002404547 |
581 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001065775 rs201771783 |
581 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000693811 rs1375372433 |
593 | P>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000809100 rs1377173037 |
596 | G>V | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000710725 rs1412401979 RCV001230689 |
597 | R>Q | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs573487238 RCV002140421 |
601 | G>E | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2131500027 RCV002226867 |
601 | G>W | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000651525 rs941771966 CA196340115 |
602 | T>A | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs369050350 RCV001224807 RCV003145422 |
602 | T>M | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs897077465 RCV001888273 |
606 | S>N | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs150861652 RCV001214062 RCV003311964 |
608 | S>L | Hereditary spastic paraplegia 3A Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs990859311 RCV001926815 |
617 | L>V | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs1445290655 RCV000988190 |
622 | R>W | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001046548 rs1853383567 |
628 | Y>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002406873 rs768918778 RCV000818436 |
629 | N>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA374034892 rs1554705383 RCV000651515 |
641 | L>P | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000679934 rs1564059605 |
644 | A>D | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM198640 rs774220760 COSM4871219 RCV001939937 |
647 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001044406 rs148287063 |
655 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002416377 rs143242735 RCV001557423 RCV001050333 |
655 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001917218 rs748802657 |
659 | Q>E | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1853379869 RCV001064518 |
660 | E>K | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001895473 rs752300430 COSM1625243 |
664 | A>T | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures liver [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587777885 CA233053 RCV000789076 RCV000143798 RCV000988189 |
665 | V>L | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1587668190 RCV000796773 |
666 | D>A | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002030655 rs372899268 |
670 | E>K | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
rs200086216 RCV001521413 |
671 | A>V | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001375944 rs2131499599 |
679 | L>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM3908908 rs1853375829 RCV003329384 RCV002563102 COSM4906537 RCV001226845 |
681 | S>L | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
RCV000793566 rs1587668129 |
686 | K>M | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs376312313 RCV001318183 |
686 | K>N | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554705339 RCV003144362 RCV000546466 CA374033942 |
689 | Q>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000195105 VAR_081857 RCV001576548 rs797045412 RCV000258929 CA209708 RCV000754661 RCV003311712 |
694 | R>C | Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Autosomal dominant hereditary axonal motor and sensory neuropathy Variant assessed as Somatic; MODERATE impact. Spinal muscular atrophy, lower extremity-predominant, 2, AD SMALED2B [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV001266889 rs797045412 |
694 | R>G | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1587668077 RCV000802975 |
702 | Q>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002513674 rs371707778 CA143966 RCV000345846 VAR_070117 RCV000049275 |
703 | T>M | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases SMALED2A; causes Golgi fragmentation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs777986224 RCV000440080 CA5126383 RCV003480629 RCV000704642 |
714 | K>N | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5126377 RCV002424530 rs201335175 RCV001405475 |
724 | E>D | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2131498763 RCV001909056 |
725 | T>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs943974428 RCV001906320 |
730 | R>L | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000651526 RCV001566389 rs756538071 CA5126372 |
731 | N>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1853349816 RCV001262508 |
734 | K>missing | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2131498680 RCV001946224 |
737 | K>missing | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2131498684 RCV001992969 |
737 | K>E | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1210812038 RCV001246424 |
740 | A>T | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000651528 CA658797225 rs1554705227 |
742 | T>missing | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1853349102 RCV001325878 |
743 | F>T | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000811061 RCV001268077 RCV001003975 rs1587667544 RCV000789081 |
747 | R>C | Neuronopathy, distal hereditary motor, autosomal dominant Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Myopathy [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001244178 RCV002469362 RCV002418839 COSM1555610 rs145923602 |
749 | M>V | lung Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs766894803 RCV001242780 |
758 | I>V | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1853288605 RCV001234542 |
762 | D>V | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar 1000Genomes dbSNP |
|
rs1853288308 RCV001325371 |
765 | Q>R | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1216459221 RCV000803581 |
766 | R>Q | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001061242 rs773121830 |
769 | A>V | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000414546 RCV000049277 VAR_070118 rs398123030 CA143970 |
774 | E>G | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures SMALED2A; affects interaction with RAB6A and DNAI1 and the subcellular location of the protein [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001526465 RCV000494558 CA374030502 rs1131691347 |
774 | E>K | Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2131496327 RCV001823524 |
776 | K>T | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1587666004 RCV000818020 |
777 | T>A | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM4893558 rs377454040 COSM3659562 RCV001221964 |
780 | S>L | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000701759 rs144944522 |
783 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001619821 RCV000651529 rs149891938 RCV002442347 CA5126320 |
784 | M>V | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1473987839 RCV000805587 RCV002453799 |
795 | R>Q | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002287447 rs756421767 RCV000798603 |
795 | R>W | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000624620 rs1273239213 CA374030040 |
800 | E>K | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1564057942 RCV002532905 RCV000710726 |
807 | R>Q | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs778940849 RCV001201819 |
807 | R>W | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001796429 RCV001297246 rs143189118 |
808 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs372322527 RCV000699948 RCV002458279 |
808 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3699772 rs778218322 COSM4783803 RCV001988115 |
810 | R>C | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs556905704 RCV000696917 |
810 | R>H | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1292889 rs751158467 RCV002458291 RCV000702893 |
814 | A>S | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures haematopoietic_and_lymphoid_tissue Inborn genetic diseases [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200341779 RCV002442431 RCV000688894 |
818 | K>E | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000797220 RCV002424832 rs776472510 |
821 | T>A | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000687210 rs768524403 |
822 | P>L | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001339863 rs1853279588 |
823 | S>N | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
| rs774833198 | 2 | S>W | No |
ExAC gnomAD |
|
| rs749811756 | 3 | A>P | No |
ExAC gnomAD |
|
| rs749811756 | 3 | A>T | No |
ExAC gnomAD |
|
| rs528422760 | 3 | A>V | No |
1000Genomes ExAC gnomAD |
|
| rs1266874937 | 4 | P>L | No |
TOPMed gnomAD |
|
| rs1854446602 | 8 | E>K | No |
TOPMed gnomAD |
|
| rs1587696707 | 10 | Y>D | No | Ensembl | |
| rs1854446331 | 11 | A>V | No | TOPMed | |
| rs1364903166 | 12 | R>W | No |
TOPMed gnomAD |
|
| rs2131542760 | 15 | M>L | No | Ensembl | |
| rs781039454 | 16 | E>Q | No |
ExAC gnomAD |
|
|
rs754808774 COSM3849086 |
17 | A>E | breast [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs754808774 | 17 | A>G | No |
ExAC gnomAD |
|
| rs1322573501 | 18 | Q>R | No | gnomAD | |
| rs1854445710 | 19 | P>L | No | gnomAD | |
| rs1854445277 | 24 | A>G | No | Ensembl | |
| rs750400156 | 24 | A>T | No |
ExAC gnomAD |
|
| rs1587696651 | 26 | V>G | No | Ensembl | |
| rs759754396 | 27 | K>N | No |
ExAC gnomAD |
|
| rs563260309 | 28 | R>W | No |
1000Genomes ExAC gnomAD |
|
| rs1271773744 | 30 | S>F | No | gnomAD | |
| rs766752238 | 30 | S>T | No |
ExAC gnomAD |
|
| rs1339935700 | 32 | E>D | No |
TOPMed gnomAD |
|
| rs1854443836 | 33 | L>M | No | Ensembl | |
| rs773807696 | 35 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs377260839 | 37 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1854443627 | 37 | T>S | No | TOPMed | |
| rs1198444604 | 39 | E>D | No | gnomAD | |
| rs1409371442 | 41 | I>T | No | gnomAD | |
| TCGA novel | 42 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1410635484 | 47 | G>R | No | gnomAD | |
| rs1369147268 | 52 | E>K | No | Ensembl | |
| TCGA novel | 52 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1479201687 | 54 | K>R | No | gnomAD | |
| rs1036413242 | 61 | F>L | No |
TOPMed gnomAD |
|
| rs1587696551 | 67 | D>G | No | Ensembl | |
| rs979523180 | 69 | E>D | No |
TOPMed gnomAD |
|
| rs953389202 | 70 | A>V | No | TOPMed | |
| rs909189054 | 72 | R>C | No | gnomAD | |
| rs909189054 | 72 | R>G | No | gnomAD | |
| rs1854441005 | 72 | R>H | No | Ensembl | |
| rs909189054 | 72 | R>S | No | gnomAD | |
| rs865976278 | 74 | E>* | No |
TOPMed gnomAD |
|
| rs1348815480 | 74 | E>G | No |
TOPMed gnomAD |
|
| rs865976278 | 74 | E>Q | No |
TOPMed gnomAD |
|
| rs1854440624 | 75 | M>R | No |
TOPMed gnomAD |
|
| rs1211317245 | 77 | Q>E | No |
TOPMed gnomAD |
|
| rs1290487353 | 77 | Q>R | No | gnomAD | |
| rs1412650632 | 81 | A>T | No | gnomAD | |
| rs1382235337 | 86 | H>R | No | TOPMed | |
| rs745739581 | 87 | T>A | No |
ExAC gnomAD |
|
|
COSM1463623 COSM4949224 |
89 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM753871 COSM4860494 |
91 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4857223 COSM487676 |
95 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs781207294 | 97 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs780380243 | 99 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1853629938 | 100 | E>D | No | Ensembl | |
| rs1360316864 | 105 | Q>R | No | gnomAD | |
| TCGA novel | 106 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1297507246 | 107 | S>A | No | gnomAD | |
| rs1187130061 | 112 | Q>R | No |
TOPMed gnomAD |
|
| rs368264103 | 113 | Y>C | No |
ESP ExAC gnomAD |
|
|
COSM1111175 COSM4871002 |
113 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 114 | Y>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760315269 | 115 | V>G | No |
ExAC gnomAD |
|
| rs763669071 | 115 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs759119780 | 116 | R>Q | No |
ExAC gnomAD |
|
| rs1421594446 | 120 | E>Q | No | gnomAD | |
| rs1186844234 | 121 | L>V | No | gnomAD | |
| rs1853628060 | 123 | T>A | No | Ensembl | |
| rs1273942686 | 125 | L>V | No | gnomAD | |
| rs374643299 | 126 | K>N | No |
1000Genomes ExAC gnomAD |
|
| rs747158081 | 129 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs747158081 | 129 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs780485203 | 129 | R>L | No |
TOPMed gnomAD |
|
|
COSM3908921 COSM4907293 |
132 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1231748699 | 133 | T>S | No | TOPMed | |
| rs1853626991 | 134 | N>S | No | Ensembl | |
| rs1272712052 | 135 | T>A | No |
TOPMed gnomAD |
|
| rs758588310 | 135 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1306819028 | 136 | Q>E | No | gnomAD | |
| rs1853626531 | 136 | Q>R | No | Ensembl | |
| rs2131510272 | 140 | E>G | No | Ensembl | |
|
rs1195751812 COSM198646 |
141 | R>C | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs754377478 | 141 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs754377478 | 141 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1192091604 | 142 | L>V | No |
TOPMed gnomAD |
|
| rs1277654035 | 147 | Q>E | No | gnomAD | |
| rs1201336546 | 149 | L>M | No | gnomAD | |
| rs753172339 | 152 | I>N | No |
ExAC gnomAD |
|
| rs1853491424 | 152 | I>V | No | TOPMed | |
| rs1417591061 | 154 | Q>K | No | TOPMed | |
| rs780719508 | 155 | N>K | No |
ExAC gnomAD |
|
| rs1307029970 | 156 | V>M | No | gnomAD | |
| rs1853490929 | 157 | E>* | No | Ensembl | |
| rs1853490774 | 159 | Q>* | No | Ensembl | |
| rs1853490716 | 159 | Q>P | No | Ensembl | |
| rs138339539 | 160 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs138339539 | 160 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs750161755 | 164 | R>W | No |
ExAC gnomAD |
|
| rs974013666 | 165 | D>N | No | TOPMed | |
| rs974013666 | 165 | D>Y | No | TOPMed | |
| rs761772246 | 167 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs759594542 | 173 | R>G | No |
ExAC TOPMed gnomAD |
|
|
COSM4907485 COSM3908920 rs774714446 |
173 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs759594542 | 173 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1853488969 | 175 | A>G | No | Ensembl | |
| rs1464723789 | 175 | A>T | No |
TOPMed gnomAD |
|
|
COSM1756270 rs1246515448 |
176 | R>C | urinary_tract [Cosmic] | No |
cosmic curated gnomAD |
| rs1486622982 | 177 | L>V | No | gnomAD | |
| rs1853488507 | 179 | Q>* | No | TOPMed | |
| rs1853488439 | 180 | D>E | No | Ensembl | |
| rs1356719828 | 181 | Y>C | No | gnomAD | |
|
COSM1569872 rs778241123 |
182 | S>L | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs778241123 | 182 | S>W | No |
ExAC TOPMed gnomAD |
|
|
RCV001816508 rs2131504115 |
187 | E>G | No |
ClinVar Ensembl dbSNP |
|
| rs2131504106 | 189 | I>T | No | 1000Genomes | |
| rs1587671674 | 189 | I>V | No |
TOPMed gnomAD |
|
| rs1458167450 | 190 | S>G | No | TOPMed | |
| rs1853487434 | 192 | Q>E | No |
TOPMed gnomAD |
|
| rs1293205306 | 193 | K>T | No |
TOPMed gnomAD |
|
| rs2131504077 | 197 | V>L | No | Ensembl | |
| rs1487654294 | 199 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs750967485 | 200 | Q>E | No |
ExAC gnomAD |
|
| rs1312682746 | 203 | V>A | No | TOPMed | |
|
TCGA novel rs1853449084 |
203 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
|
rs1564061350 RCV000735195 |
205 | F>missing | No |
ClinVar dbSNP |
|
| rs1339994661 | 209 | K>E | No | gnomAD | |
| rs1373997521 | 210 | H>Q | No |
TOPMed gnomAD |
|
| rs763967427 | 212 | I>L | No | ExAC | |
| rs1284227611 | 218 | E>A | No | gnomAD | |
| rs370390769 | 219 | T>I | No | TOPMed | |
|
rs763181274 COSM1184703 |
220 | E>K | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1853447781 | 220 | E>V | No | TOPMed | |
| rs1392422683 | 221 | Y>C | No | gnomAD | |
| rs1330984156 | 221 | Y>H | No | gnomAD | |
| rs1392422683 | 221 | Y>S | No | gnomAD | |
|
COSM4907472 COSM3908919 rs912659311 |
222 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs1174675889 | 224 | S>N | No | gnomAD | |
| rs1853447158 | 226 | L>P | No | Ensembl | |
| rs765309802 | 226 | L>V | No |
ExAC gnomAD |
|
| rs1853447095 | 227 | E>D | No | Ensembl | |
|
rs769096602 COSM1246109 |
231 | R>H | oesophagus [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1853446671 | 233 | K>R | No | Ensembl | |
| rs776027761 | 238 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs751319533 | 239 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1263986082 | 240 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1186777495 | 241 | E>* | No | TOPMed | |
| rs369298186 | 242 | E>A | No |
ESP TOPMed |
|
| rs1476363812 | 248 | K>Q | No | gnomAD | |
| rs1853444926 | 251 | R>C | No | Ensembl | |
| rs764345086 | 252 | E>G | No |
ExAC gnomAD |
|
|
rs776953074 RCV000755849 |
252 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA dbSNP |
| rs761087136 | 253 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1853444521 | 253 | Q>R | No | TOPMed | |
| rs1477280825 | 255 | N>S | No | gnomAD | |
| rs1002664605 | 258 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1243468345 | 258 | R>H | No |
TOPMed gnomAD |
|
| rs1243468345 | 258 | R>L | No |
TOPMed gnomAD |
|
| rs1207903770 | 259 | K>Q | No | gnomAD | |
| rs1445458188 | 260 | E>Q | No | gnomAD | |
| rs775974479 | 261 | L>R | No |
ExAC gnomAD |
|
| rs905682709 | 263 | H>L | No |
TOPMed gnomAD |
|
| rs905682709 | 263 | H>R | No |
TOPMed gnomAD |
|
|
COSM4870603 COSM1111172 |
268 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777536867 | 269 | D>G | No |
ExAC gnomAD |
|
| rs748866068 | 269 | D>N | No |
ExAC gnomAD |
|
|
COSM1111171 COSM4864974 |
269 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs375710311 | 270 | S>C | No |
ESP TOPMed gnomAD |
|
| rs1183012811 | 271 | F>V | No | TOPMed | |
| rs1587670363 | 273 | T>P | No | Ensembl | |
| rs781147760 | 273 | T>S | No |
ExAC gnomAD |
|
| rs1446320822 | 274 | S>G | No | gnomAD | |
| rs1385825866 | 274 | S>R | No | gnomAD | |
| rs1167719737 | 275 | H>Y | No | TOPMed | |
| rs1474330366 | 277 | H>Y | No | gnomAD | |
| rs1244043289 | 279 | S>L | No | gnomAD | |
| rs778828848 | 282 | G>D | No |
ExAC gnomAD |
|
| rs1451257455 | 282 | G>S | No |
TOPMed gnomAD |
|
| rs1853441207 | 283 | L>P | No | Ensembl | |
| rs753994970 | 284 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1853440949 | 286 | S>I | No | TOPMed | |
| rs1213166404 | 288 | D>E | No | gnomAD | |
| rs1306070294 | 288 | D>N | No | Ensembl | |
| rs372821254 | 290 | A>T | No |
ESP TOPMed gnomAD |
|
|
COSM1111170 COSM4871004 |
290 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 291 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753005623 | 293 | N>H | No |
ExAC gnomAD |
|
| rs555422625 | 295 | D>N | No | 1000Genomes | |
| rs1007045018 | 298 | A>S | No |
TOPMed gnomAD |
|
| rs1853439374 | 298 | A>V | No | Ensembl | |
| rs1421298090 | 299 | L>V | No | gnomAD | |
| rs762587567 | 300 | V>F | No | ExAC | |
| rs1853439009 | 301 | N>D | No | Ensembl | |
| rs769512205 | 304 | E>K | No | ExAC | |
| rs1480204082 | 305 | H>P | No | gnomAD | |
| rs373858530 | 305 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM6184420 COSM6184419 |
306 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1201645469 | 306 | G>S | No |
TOPMed gnomAD |
|
| rs768612898 | 307 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1587670216 | 308 | L>P | No | Ensembl | |
| rs746899633 | 309 | A>D | No |
ExAC gnomAD |
|
| rs1853438198 | 309 | A>P | No | TOPMed | |
|
COSM4907619 COSM3908917 |
309 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1274098153 | 310 | K>E | No |
TOPMed gnomAD |
|
| rs878999998 | 310 | K>N | No | Ensembl | |
| rs1219044933 | 310 | K>R | No | gnomAD | |
| rs1853437537 | 314 | D>N | No | Ensembl | |
| rs1051176702 | 315 | N>D | No |
TOPMed gnomAD |
|
| rs1051176702 | 315 | N>H | No |
TOPMed gnomAD |
|
| rs1051614965 | 315 | N>S | No |
TOPMed gnomAD |
|
| rs1345664005 | 317 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1587670183 | 317 | T>P | No | Ensembl | |
| rs757281343 | 318 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs1170829654 | 320 | P>S | No | gnomAD | |
| rs1469136994 | 322 | K>N | No | gnomAD | |
| rs115787125 | 324 | G>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1564061000 | 325 | L>V | No | Ensembl | |
| rs1175583344 | 326 | A>G | No |
TOPMed gnomAD |
|
| rs571839806 | 326 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs571839806 COSM5506292 COSM2731927 |
326 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000911721 rs1175583344 |
326 | A>V | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1564060970 | 330 | P>L | No |
TOPMed gnomAD |
|
| rs1564060970 | 330 | P>R | No |
TOPMed gnomAD |
|
| rs768559794 | 330 | P>T | No |
ExAC gnomAD |
|
| rs1221608030 | 331 | S>I | No | gnomAD | |
| rs1221608030 | 331 | S>T | No | gnomAD | |
| rs1428592970 | 333 | V>I | No |
TOPMed gnomAD |
|
| rs1853434338 | 335 | D>A | No | gnomAD | |
|
COSM1111167 rs1338473700 COSM4865750 |
335 | D>N | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1853434245 | 336 | L>V | No | TOPMed | |
| rs771991551 | 338 | S>G | No |
ExAC gnomAD |
|
|
COSM1315022 COSM4811441 rs1313294851 |
343 | S>C | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs1853433683 | 345 | I>V | No | Ensembl | |
| rs1245285211 | 353 | M>V | No |
TOPMed gnomAD |
|
| rs1204734758 | 354 | Q>* | No | gnomAD | |
| rs1483349426 | 354 | Q>H | No | gnomAD | |
| rs773079689 | 355 | M>I | No | Ensembl | |
| rs867638753 | 357 | R>Q | No |
TOPMed gnomAD |
|
| rs587777884 | 360 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs768579683 | 361 | G>D | No |
ExAC gnomAD |
|
| rs1403165067 | 361 | G>S | No |
TOPMed gnomAD |
|
| rs747277375 | 365 | T>A | No |
ExAC gnomAD |
|
| rs1479252936 | 367 | Q>H | No | gnomAD | |
| rs546946494 | 367 | Q>R | No |
1000Genomes ExAC gnomAD |
|
| rs1853414772 | 368 | D>N | No | TOPMed | |
| rs1198974973 | 370 | Q>H | No |
TOPMed gnomAD |
|
| rs796478441 | 373 | L>M | No | Ensembl | |
| rs1853414383 | 373 | L>Q | No | TOPMed | |
|
rs2131501343 RCV001763900 |
374 | E>G | No |
ClinVar Ensembl dbSNP |
|
| rs779406194 | 374 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1443276709 | 375 | H>R | No |
TOPMed gnomAD |
|
| rs200325192 | 376 | T>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs755525474 | 377 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
rs1331269686 COSM1111166 COSM4870588 |
378 | G>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1440404997 | 378 | G>V | No |
TOPMed gnomAD |
|
| rs759178133 | 383 | Q>R | No |
ExAC gnomAD |
|
| rs1853413325 | 384 | Q>E | No | TOPMed | |
| rs1853413265 | 384 | Q>R | No | gnomAD | |
| rs780841035 | 385 | E>D | No | Ensembl | |
| rs1331535725 | 387 | V>L | No | gnomAD | |
| rs1356671689 | 388 | T>I | No | gnomAD | |
| rs1356671689 | 388 | T>N | No | gnomAD | |
| rs1587669441 | 388 | T>P | No | Ensembl | |
| rs766132361 | 389 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs762910297 | 389 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1403939993 | 391 | T>I | No | gnomAD | |
|
COSM4865011 COSM1111165 |
392 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768794089 | 392 | E>K | No |
ExAC gnomAD |
|
| rs775633720 | 394 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs772238736 | 395 | S>N | No | ExAC | |
| rs373861721 | 395 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs749831276 | 398 | R>P | No |
ExAC TOPMed gnomAD |
|
|
rs749831276 COSM243199 |
398 | R>Q | prostate [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1853411187 | 401 | Q>K | No | TOPMed | |
| rs1281358234 | 402 | A>T | No | gnomAD | |
| rs780733976 | 402 | A>V | No |
ExAC gnomAD |
|
| rs984133787 | 403 | S>R | No | Ensembl | |
| rs951408201 | 403 | S>R | No |
TOPMed gnomAD |
|
| rs1025736397 | 405 | E>Q | No | Ensembl | |
| rs573924799 | 406 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1454949934 | 406 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs750379347 | 409 | A>V | No |
ExAC gnomAD |
|
| rs765154460 | 410 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1564060442 | 411 | D>N | No | Ensembl | |
| rs1587669291 | 415 | D>A | No | TOPMed | |
| rs1587669291 | 415 | D>G | No | TOPMed | |
| rs1192666081 | 416 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs55658812 | 417 | D>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1012482201 | 417 | D>E | No |
TOPMed gnomAD |
|
| rs1853408983 | 417 | D>N | No | gnomAD | |
| rs1587669282 | 418 | S>G | No | Ensembl | |
| rs1251499760 | 419 | H>D | No | TOPMed | |
| rs1482387388 | 419 | H>R | No |
TOPMed gnomAD |
|
| rs1278545974 | 421 | D>A | No | gnomAD | |
| rs749686612 | 424 | Y>H | No |
ExAC gnomAD |
|
|
RCV000977783 rs184465241 |
426 | E>Q | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 429 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1205779432 | 430 | N>S | No |
TOPMed gnomAD |
|
|
rs1853407324 TCGA novel |
431 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1299463722 | 434 | I>V | No | gnomAD | |
| rs999828635 | 436 | A>T | No | Ensembl | |
| rs1587669225 | 439 | Y>S | No | Ensembl | |
| rs754437379 | 440 | H>Q | No |
ExAC gnomAD |
|
| rs1368449611 | 440 | H>R | No |
TOPMed gnomAD |
|
| rs779615238 | 441 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs746678259 | 441 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs746678259 | 441 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs2131500960 | 442 | A>S | No | Ensembl | |
| TCGA novel | 442 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs758040149 | 443 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1378266169 | 445 | E>G | No |
TOPMed gnomAD |
|
|
CA16605726 RCV000432412 rs1057520883 |
445 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs765057014 | 448 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs201997144 | 450 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
|
rs150965296 RCV001765949 |
451 | E>K | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1564060310 | 452 | Q>H | No | Ensembl | |
| rs201947999 | 459 | T>A | No | TOPMed | |
| rs777065935 | 459 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs779525450 | 462 | A>G | No |
ExAC gnomAD |
|
| rs745500617 | 463 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1436358974 | 464 | E>A | No |
TOPMed gnomAD |
|
| rs778602022 | 465 | A>G | No |
ExAC gnomAD |
|
| rs1408045633 | 466 | Q>* | No | gnomAD | |
| rs1587669084 | 466 | Q>H | No | Ensembl | |
|
rs753729502 COSM3908913 COSM4907260 |
468 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001819361 rs1853403291 |
469 | E>D | No |
ClinVar dbSNP gnomAD |
|
| rs756111549 | 469 | E>K | No |
ExAC TOPMed gnomAD |
|
|
rs756111549 RCV001772883 |
469 | E>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2131500786 | 471 | K>R | No | Ensembl | |
| rs766539334 | 473 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1024896113 | 474 | Y>H | No | TOPMed | |
| rs763118302 | 476 | A>G | No |
ExAC gnomAD |
|
| rs1232860433 | 476 | A>S | No | gnomAD | |
| rs1218802651 | 478 | G>D | No |
TOPMed gnomAD |
|
| rs750611631 | 478 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1853401653 | 481 | L>H | No |
TOPMed gnomAD |
|
| rs1853401653 | 481 | L>P | No |
TOPMed gnomAD |
|
| rs761146388 | 482 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs2131500717 | 483 | E>V | No | Ensembl | |
| rs1853401223 | 484 | K>E | No | gnomAD | |
| rs1853400976 | 486 | S>C | No | Ensembl | |
| rs376690908 | 489 | E>* | No |
ESP ExAC gnomAD |
|
| rs770633796 | 491 | A>S | No |
ExAC gnomAD |
|
| rs2131500674 | 492 | S>G | No | Ensembl | |
| TCGA novel | 492 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2131500665 | 492 | S>T | No | Ensembl | |
| rs756162689 | 493 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs756162689 | 493 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1203471595 | 494 | Q>* | No | gnomAD | |
| rs1211599425 | 495 | D>H | No | gnomAD | |
| rs1312330865 | 496 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs765563734 | 497 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs1853399592 | 497 | E>A | No | TOPMed | |
| rs765563734 | 497 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 498 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs764409038 | 500 | A>S | No |
ExAC gnomAD |
|
| rs764409038 | 500 | A>T | No |
ExAC gnomAD |
|
| rs398123032 | 501 | R>L | No |
TOPMed gnomAD |
|
| TCGA novel | 503 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775241204 | 504 | K>N | No |
TOPMed gnomAD |
|
| rs528418006 | 509 | V>M | No |
1000Genomes ExAC |
|
| rs773725679 | 511 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1587668885 | 511 | D>H | No | Ensembl | |
| COSM274134 | 511 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs748921807 | 512 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs748921807 | 512 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1039504580 | 513 | A>T | No | gnomAD | |
| rs200091763 | 514 | G>R | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 515 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1587668848 | 516 | T>P | No | Ensembl | |
|
RCV002267479 rs1853397224 |
521 | S>N | No |
ClinVar TOPMed dbSNP |
|
| rs1244971632 | 525 | D>E | No | gnomAD | |
| TCGA novel | 525 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781120073 | 526 | E>G | No |
ExAC gnomAD |
|
| TCGA novel | 526 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1853396489 | 529 | T>A | No | Ensembl | |
| rs1287163670 | 531 | S>T | No |
TOPMed gnomAD |
|
|
COSM3780196 COSM4810853 |
532 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001767551 rs2131500475 |
538 | Y>H | No |
ClinVar Ensembl dbSNP |
|
| rs1361714428 | 539 | H>Y | No | gnomAD | |
| rs1587668776 | 541 | V>L | No |
TOPMed gnomAD |
|
|
COSM4908878 rs1587668776 COSM3930187 |
541 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs112566067 | 542 | C>R | No | Ensembl | |
| rs1853395421 | 543 | M>I | No | Ensembl | |
| rs757508224 | 543 | M>T | No |
ExAC gnomAD |
|
|
COSM4906344 COSM3908910 |
544 | C>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1853395074 | 548 | T>I | No | gnomAD | |
|
RCV000479919 CA16618868 rs1064795764 |
549 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM4858629 rs1423989399 COSM753872 |
551 | R>C | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2131500414 | 551 | R>H | No | Ensembl | |
| rs1853394760 | 553 | M>V | No |
TOPMed gnomAD |
|
| rs756411154 | 557 | Y>* | No |
ExAC gnomAD |
|
| rs1263279945 | 558 | R>H | No | gnomAD | |
| rs1263279945 | 558 | R>L | No | gnomAD | |
| rs1351684855 | 558 | R>S | No | TOPMed | |
| rs1853393848 | 559 | E>G | No | TOPMed | |
| rs773956882 | 560 | G>D | No |
ExAC gnomAD |
|
| rs1853393359 | 563 | G>E | No | TOPMed | |
|
rs550312355 RCV001620867 |
566 | R>L | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1179908283 | 567 | T>A | No |
TOPMed gnomAD |
|
| rs1294456292 | 567 | T>I | No | gnomAD | |
| rs1461847619 | 568 | S>T | No | gnomAD | |
| rs956014092 | 569 | P>A | No |
TOPMed gnomAD |
|
| rs2131500320 | 569 | P>L | No | Ensembl | |
| rs1423665995 | 570 | G>E | No | gnomAD | |
| rs1198107228 | 571 | G>D | No |
TOPMed gnomAD |
|
| rs1853392183 | 571 | G>S | No | TOPMed | |
| rs1198107228 | 571 | G>V | No |
TOPMed gnomAD |
|
|
rs757277531 RCV000896922 |
572 | R>C | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs777902159 | 572 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1853391637 | 573 | T>A | No | gnomAD | |
| rs753160316 | 573 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs2131500268 | 574 | S>C | No | Ensembl | |
| rs753260967 | 574 | S>N | No | gnomAD | |
| rs755545048 | 575 | P>H | No |
ExAC gnomAD |
|
| rs767745546 | 575 | P>S | No |
ExAC gnomAD |
|
| rs1019918174 | 576 | E>G | No | Ensembl | |
| rs762486826 | 577 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs541558181 | 578 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs541558181 | 578 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs776528966 | 578 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs776528966 | 578 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs768293659 | 579 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs573861187 | 580 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs775229197 | 580 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs771001231 | 581 | R>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 582 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1853389361 | 582 | S>L | No | Ensembl | |
| rs1199398983 | 583 | P>L | No | gnomAD | |
| rs1236079044 | 585 | L>F | No | gnomAD | |
| TCGA novel | 585 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554705436 RCV000521839 CA374036016 |
588 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1167042614 | 588 | K>R | No |
TOPMed gnomAD |
|
| rs1198798486 | 589 | G>E | No |
TOPMed gnomAD |
|
| rs748281611 | 589 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1198798486 | 589 | G>V | No |
TOPMed gnomAD |
|
| rs1853387970 | 592 | A>P | No | TOPMed | |
| rs1238901557 | 592 | A>V | No |
TOPMed gnomAD |
|
| rs1332984607 | 595 | A>V | No |
TOPMed gnomAD |
|
| rs1377173037 | 596 | G>D | No | gnomAD | |
| rs755242809 | 597 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs752113639 | 598 | A>G | No |
ExAC gnomAD |
|
| rs1853387055 | 599 | D>V | No | Ensembl | |
| rs780775754 | 600 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs780775754 | 600 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs761557763 | 605 | S>G | No | ExAC | |
| TCGA novel | 605 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1853385677 | 607 | P>A | No | TOPMed | |
| TCGA novel | 607 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 607 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs539815304 | 611 | S>P | No |
1000Genomes ExAC gnomAD |
|
| rs1853385141 | 614 | P>S | No | TOPMed | |
| rs1248902539 | 616 | P>S | No |
TOPMed gnomAD |
|
| rs1853384601 | 620 | P>S | No | TOPMed | |
| rs759443667 | 621 | R>C | No |
ExAC gnomAD |
|
| rs773315656 | 621 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs767576124 | 622 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1339198874 | 625 | M>I | No | gnomAD | |
| rs1853383960 | 625 | M>T | No | TOPMed | |
| rs781208199 | 628 | Y>D | No |
ExAC gnomAD |
|
| rs141414055 | 631 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs780545089 | 632 | A>G | No |
ExAC gnomAD |
|
| rs1224745301 | 633 | I>M | No | gnomAD | |
| rs1564059648 | 633 | I>V | No | Ensembl | |
| rs535972421 | 634 | I>V | No |
1000Genomes ExAC gnomAD |
|
|
COSM4781780 COSM3413818 rs750918663 |
635 | R>C | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs750918663 | 635 | R>G | No |
ExAC TOPMed gnomAD |
|
|
COSM1111161 rs778586689 |
635 | R>H | endometrium [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1487385340 | 636 | D>E | No | gnomAD | |
| rs1217921429 | 638 | I>M | No | gnomAD | |
| rs756663748 | 638 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs753530258 | 639 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs2131499818 | 640 | H>Y | No | Ensembl | |
| rs752535272 | 643 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs1230428645 | 643 | A>T | No | gnomAD | |
| rs752535272 | 643 | A>V | No |
ExAC TOPMed gnomAD |
|
|
RCV001772834 rs2131499781 |
645 | V>E | No |
ClinVar Ensembl dbSNP |
|
| rs759494778 | 645 | V>M | No | ExAC | |
| rs1217479085 | 647 | R>C | No | gnomAD | |
| rs1853381460 | 648 | T>I | No | Ensembl | |
| rs769925371 | 649 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs776758625 | 650 | E>G | No |
ExAC gnomAD |
|
| rs1439531644 | 650 | E>K | No | gnomAD | |
| rs776027192 | 653 | R>C | No |
ExAC gnomAD |
|
| rs772514098 | 653 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs143242735 | 655 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1203601815 | 658 | S>F | No |
TOPMed gnomAD |
|
| rs1587668223 | 660 | E>A | No | Ensembl | |
| rs1224221873 | 662 | G>V | No | gnomAD | |
| rs1272758333 | 663 | P>L | No |
TOPMed gnomAD |
|
| rs777312825 | 663 | P>S | No |
ExAC gnomAD |
|
|
COSM4904167 rs1279502533 COSM3659566 |
664 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs587777885 | 665 | V>M | No |
ExAC TOPMed gnomAD |
|
|
COSM456247 COSM4816161 |
667 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs766286336 | 669 | K>Q | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 670 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1173011262 | 670 | E>D | No | gnomAD | |
| rs200086216 | 671 | A>G | No |
1000Genomes ExAC gnomAD |
|
| rs1853378377 | 671 | A>T | No | Ensembl | |
| rs764195400 | 672 | L>P | No |
ExAC gnomAD |
|
| rs760998712 | 674 | E>G | No |
ExAC gnomAD |
|
| rs370600458 | 676 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs772569212 | 680 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs745688123 | 684 | S>T | No | Ensembl | |
| rs1410331684 | 685 | T>A | No |
TOPMed gnomAD |
|
| rs968594030 | 687 | R>Q | No | gnomAD | |
| rs771388324 | 687 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs749768835 | 691 | T>S | No |
ExAC gnomAD |
|
| rs777172982 | 692 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001780684 rs2131499515 |
694 | R>H | No |
ClinVar Ensembl dbSNP |
|
| rs797045412 | 694 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs780893680 | 695 | T>I | No |
ExAC gnomAD |
|
| rs1332376533 | 698 | K>E | No |
TOPMed gnomAD |
|
| rs1194853459 | 699 | A>V | No | gnomAD | |
| rs1243854107 | 703 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1853353035 | 703 | T>A | No | TOPMed | |
| rs1234132431 | 706 | V>A | No | gnomAD | |
| rs759865700 | 706 | V>M | No |
ExAC gnomAD |
|
| rs1339855706 | 708 | L>I | No | gnomAD | |
| rs1414563547 | 710 | N>H | No | TOPMed | |
| rs1293283031 | 714 | K>R | No | gnomAD | |
| rs1475338425 | 718 | E>G | No | gnomAD | |
| rs1478749168 | 720 | A>T | No | gnomAD | |
| rs1262410586 | 721 | M>V | No | gnomAD | |
| rs1853351184 | 722 | V>I | No | gnomAD | |
| TCGA novel | 723 | T>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776152202 COSM1166098 COSM4665702 |
724 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs776152202 | 724 | E>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM4897352 COSM3659565 |
725 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs563633956 | 726 | M>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1325637905 | 726 | M>T | No | gnomAD | |
| rs1220601140 | 727 | M>I | No |
TOPMed gnomAD |
|
| rs1256207191 | 727 | M>L | No |
TOPMed gnomAD |
|
| rs1256207191 | 727 | M>V | No |
TOPMed gnomAD |
|
| rs1301268313 | 729 | L>R | No | gnomAD | |
| rs745733355 | 730 | R>C | No |
ExAC gnomAD |
|
| rs943974428 | 730 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1853349690 | 735 | A>S | No | TOPMed | |
| rs1399155854 | 736 | L>F | No |
TOPMed gnomAD |
|
| rs1210812038 | 740 | A>S | No |
TOPMed gnomAD |
|
| rs1564059043 | 741 | A>T | No | gnomAD | |
| TCGA novel | 742 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16618867 rs1064793875 RCV000486449 |
744 | S>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs781440350 | 745 | S>L | No |
ExAC TOPMed gnomAD |
|
|
COSM3659563 COSM4892039 |
747 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs878944571 COSM4820388 COSM4820387 |
747 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1853348043 | 752 | T>A | No | TOPMed | |
| rs761065316 | 754 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs1301438567 | 755 | D>V | No | TOPMed | |
|
rs1587666080 COSM4948426 COSM1463622 |
756 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| TCGA novel | 757 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs544222840 | 759 | T>A | No |
1000Genomes ExAC gnomAD |
|
| rs1853288783 | 759 | T>I | No |
TOPMed gnomAD |
|
| rs1853288605 | 762 | D>G | No | 1000Genomes | |
| rs1185502129 | 763 | E>D | No | gnomAD | |
| rs1368172258 | 763 | E>K | No | gnomAD | |
| rs770704782 | 764 | M>T | No |
ExAC gnomAD |
|
|
RCV000143822 rs587777889 CA233116 |
766 | R>W | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs1357621526 | 767 | Q>H | No | gnomAD | |
| rs2131496358 | 767 | Q>K | No | Ensembl | |
| rs1587666040 | 768 | L>R | No | Ensembl | |
| rs749155856 | 769 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs370894046 | 771 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1564058069 | 772 | E>G | No | Ensembl | |
| rs1293399277 | 777 | T>M | No |
TOPMed gnomAD |
|
| rs1035602847 | 779 | N>K | No | Ensembl | |
| rs1587665986 | 779 | N>T | No | Ensembl | |
| rs756670700 | 783 | R>H | No |
ExAC gnomAD |
|
| rs767064425 | 784 | M>T | No |
ExAC gnomAD |
|
|
COSM1472284 COSM4879254 |
785 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1587665959 | 785 | A>P | No | Ensembl | |
|
COSM4850519 COSM4850518 |
785 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1477113907 | 786 | I>V | No | gnomAD | |
|
COSM4923987 COSM4923986 |
787 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1002771410 | 789 | K>R | No | Ensembl | |
| rs1853283714 | 791 | A>E | No | TOPMed | |
| rs762667995 | 794 | Q>H | No | ExAC | |
| rs1587665930 | 794 | Q>P | No | Ensembl | |
| rs147984965 | 799 | L>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1273239213 | 800 | E>* | No |
TOPMed gnomAD |
|
| rs1293576826 | 800 | E>A | No |
TOPMed gnomAD |
|
| rs1273239213 | 800 | E>Q | No |
TOPMed gnomAD |
|
|
COSM4838082 COSM4838081 |
803 | H>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1564057962 | 803 | H>G | No | Ensembl | |
| rs746003524 | 806 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs746003524 | 806 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs1564057942 | 807 | R>L | No | TOPMed | |
| rs372322527 | 808 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1239149545 | 809 | G>S | No |
TOPMed gnomAD |
|
| rs1170038034 | 809 | G>V | No | gnomAD | |
| rs778218322 | 810 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs781609497 | 812 | K>R | No |
ExAC gnomAD |
|
| rs1853280924 | 813 | A>D | No |
TOPMed gnomAD |
|
| rs2131496154 | 813 | A>P | No | Ensembl | |
|
rs751158467 COSM1184705 |
814 | A>T | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs765951746 | 814 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs762717269 | 815 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs762717269 | 815 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1274529996 | 816 | K>N | No | gnomAD | |
| rs1215043506 | 817 | T>I | No | gnomAD | |
| rs761582527 | 818 | K>N | No |
ExAC gnomAD |
|
| TCGA novel | 819 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 820 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2131496114 | 820 | A>V | No | Ensembl | |
| rs768524403 | 822 | P>R | No |
ExAC TOPMed gnomAD |
No associated diseases with Q8TD16
3 regional properties for Q8TD16
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | 14-3-3 protein, conserved site | 53 - 63 | IPR023409-1 |
| conserved_site | 14-3-3 protein, conserved site | 225 - 244 | IPR023409-2 |
| domain | 14-3-3 domain | 10 - 256 | IPR023410 |
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| annulate lamellae | Stacks of endoplasmic reticulum (ER) membranes containing a high density of nuclear pores, thought to form from excess nuclear membrane components, that have been described in a number of different cells. Annulate lamellar membranes are continuous with and embedded within the ER. |
| 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. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| nuclear pore | A protein complex providing a discrete opening in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| cytoskeletal anchor activity | The binding activity of a protein that brings together a cytoskeletal protein (either a microtubule or actin filament, spindle pole body, or protein directly bound to them) and one or more other molecules, permitting them to function in a coordinated way. |
| dynactin binding | Binding to a dynactin complex; a large protein complex that activates dynein-based motor activity. |
| dynein complex binding | Binding to a dynein complex, a protein complex that contains two or three dynein heavy chains and several light chains, and has microtubule motor activity. |
| dynein light intermediate chain binding | Binding to a light intermediate chain of the dynein complex. |
| small GTPase binding | Binding to a small monomeric GTPase. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| centrosome localization | Any process in which a centrosome is transported to, and/or maintained in, a specific location within the cell. |
| microtubule anchoring at microtubule organizing center | Any process in which a microtubule is maintained in a specific location in a cell by attachment to a microtubule organizing center. |
| microtubule-based movement | A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. |
| minus-end-directed organelle transport along microtubule | The directed movement of an organelle towards the minus end of a microtubule, mediated by motor proteins. This process begins with the attachment of an organelle to a microtubule, and ends when the organelle reaches its final destination. |
| mRNA transport | The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein localization to Golgi apparatus | A process in which a protein is transported to, or maintained in, a location within the Golgi apparatus. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of microtubule cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | The directed movement of substances from the Golgi back to the endoplasmic reticulum, mediated by vesicles bearing specific protein coats such as COPI or COG. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P16568 | BicD | Protein bicaudal D | Drosophila melanogaster (Fruit fly) | EV |
| Q96G01 | BICD1 | Protein bicaudal D homolog 1 | Homo sapiens (Human) | SS |
| Q8BR07 | Bicd1 | Protein bicaudal D homolog 1 | Mus musculus (Mouse) | EV |
| Q921C5 | Bicd2 | Protein bicaudal D homolog 2 | Mus musculus (Mouse) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSAPSEEEEY | ARLVMEAQPE | WLRAEVKRLS | HELAETTREK | IQAAEYGLAV | LEEKHQLKLQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FEELEVDYEA | IRSEMEQLKE | AFGQAHTNHK | KVAADGESRE | ESLIQESASK | EQYYVRKVLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LQTELKQLRN | VLTNTQSENE | RLASVAQELK | EINQNVEIQR | GRLRDDIKEY | KFREARLLQD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YSELEEENIS | LQKQVSVLRQ | NQVEFEGLKH | EIKRLEEETE | YLNSQLEDAI | RLKEISERQL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EEALETLKTE | REQKNSLRKE | LSHYMSINDS | FYTSHLHVSL | DGLKFSDDAA | EPNNDAEALV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NGFEHGGLAK | LPLDNKTSTP | KKEGLAPPSP | SLVSDLLSEL | NISEIQKLKQ | QLMQMEREKA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GLLATLQDTQ | KQLEHTRGSL | SEQQEKVTRL | TENLSALRRL | QASKERQTAL | DNEKDRDSHE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DGDYYEVDIN | GPEILACKYH | VAVAEAGELR | EQLKALRSTH | EAREAQHAEE | KGRYEAEGQA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LTEKVSLLEK | ASRQDRELLA | RLEKELKKVS | DVAGETQGSL | SVAQDELVTF | SEELANLYHH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VCMCNNETPN | RVMLDYYREG | QGGAGRTSPG | GRTSPEARGR | RSPILLPKGL | LAPEAGRADG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GTGDSSPSPG | SSLPSPLSDP | RREPMNIYNL | IAIIRDQIKH | LQAAVDRTTE | LSRQRIASQE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LGPAVDKDKE | ALMEEILKLK | SLLSTKREQI | TTLRTVLKAN | KQTAEVALAN | LKSKYENEKA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| MVTETMMKLR | NELKALKEDA | ATFSSLRAMF | ATRCDEYITQ | LDEMQRQLAA | AEDEKKTLNS |
| 790 | 800 | 810 | 820 | ||
| LLRMAIQQKL | ALTQRLELLE | LDHEQTRRGR | AKAAPKTKPA | TPSL |