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 |
2 associated diseases with Q8TD16
[MIM: 615290]: Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A)
An autosomal dominant form of spinal muscular atrophy characterized by early-childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618291]: Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant (SMALED2B)
An autosomal dominant neuromuscular disorder characterized by decreased fetal movements, fractures in utero, severe congenital joint contractures, arthrogryposis multiplex congenita, severe hypotonia, muscle atrophy, and respiratory insufficiency and failure due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Death in early childhood may occur. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant form of spinal muscular atrophy characterized by early-childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life. . Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant neuromuscular disorder characterized by decreased fetal movements, fractures in utero, severe congenital joint contractures, arthrogryposis multiplex congenita, severe hypotonia, muscle atrophy, and respiratory insufficiency and failure due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Death in early childhood may occur. . Note=The disease is caused by variants affecting the gene represented in this entry.
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 |