Q75V66
PR
Gene name |
ANO5 (GDD1, TMEM16E) |
Protein name |
Anoctamin-5 |
Names |
Gnathodiaphyseal dysplasia 1 protein, Transmembrane protein 16E |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:203859 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q75V66
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q75V66-F1 | Predicted | AlphaFoldDB |
922 variants for Q75V66
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000522794 CA379921893 rs376116831 RCV001362708 |
4 | P>Q | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000350855 CA5922736 RCV001855141 rs376116831 |
4 | P>R | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1373002417 RCV000800196 CA379921933 |
11 | A>T | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10604517 RCV000699852 rs886042647 RCV000273128 |
15 | E>G | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002532874 rs1010958758 RCV000707462 CA218763370 |
18 | N>S | Inborn genetic diseases Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000329339 CA10638160 RCV001108710 rs886048117 RCV000381547 |
27 | M>L | Limb-Girdle Muscular Dystrophy, Recessive Miyoshi myopathy ANO5-Related Muscle Diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5922782 RCV000548483 rs747575706 |
30 | Q>E | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001238815 rs1852267355 |
35 | R>G | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000385879 RCV001859686 rs886044020 |
36 | E>missing | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1417289245 RCV000525172 CA379923643 |
36 | E>D | Variant assessed as Somatic; 0.0 impact. Gnathodiaphyseal dysplasia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA5922789 RCV003140086 rs537770163 RCV000689289 |
46 | M>V | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs147323556 RCV001859689 CA5922815 RCV000365410 |
47 | P>S | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001046066 rs1156394263 CA379924750 |
48 | A>T | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM1353220 RCV000762829 RCV000545507 rs1168346560 CA379924765 |
50 | R>* | large_intestine Variant assessed as Somatic; impact. Gnathodiaphyseal dysplasia [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs370084681 RCV000792739 RCV000593489 CA5922818 |
50 | R>Q | Variant assessed as Somatic; 0.0 impact. Gnathodiaphyseal dysplasia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_080271 RCV000723959 CA245507 RCV000988500 RCV000178421 RCV001108714 rs143777403 RCV001086326 |
52 | N>S | ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10605680 RCV000331097 rs886043577 VAR_080272 |
54 | F>S | LGMDR12; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs781702630 CA5922820 RCV002525492 RCV000726701 |
57 | R>Q | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001254061 rs1323349209 RCV000497926 RCV000688833 CA379924809 |
57 | R>W | Gnathodiaphyseal dysplasia (gdd) Miyoshi muscular dystrophy 3 Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA379924813 rs749698519 RCV000688495 |
58 | R>L | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000595603 CA5922823 RCV000813205 rs749698519 RCV001108715 RCV001729646 |
58 | R>Q | Gnathodiaphyseal dysplasia (gdd) Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002282002 RCV000254777 CA202865 VAR_068247 RCV001254062 rs201725369 RCV001814090 RCV000684805 RCV000178420 |
58 | R>W | Gnathodiaphyseal dysplasia (gdd) Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs754497228 RCV000800829 RCV000354682 CA5922835 |
62 | Q>R | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001196017 RCV002307353 RCV000778317 RCV002476911 RCV001251667 rs137854521 RCV000082844 RCV000002248 RCV000002247 RCV000627781 RCV000627021 RCV000414931 |
64 | N>missing | Intellectual disability Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy ANO5-Related Disorders Gnathodiaphyseal dysplasia Myopathy Polycystic kidney disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000645355 rs749645231 CA5922840 |
74 | R>* | Variant assessed as Somatic; 0.0 impact. Gnathodiaphyseal dysplasia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000082846 CA224411 RCV001377409 rs199501657 |
81 | D>G | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5922846 RCV000710578 RCV000988501 RCV000296622 rs34994927 RCV001108716 RCV001086686 VAR_080273 |
87 | V>I | ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1206860357 CA379925455 RCV000696520 |
88 | D>G | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001855743 rs766228901 CA5922849 RCV000729950 |
89 | D>Y | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_080274 | 93 | D>E | LGMDR12; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs367731017 RCV003141993 CA5922854 RCV001057147 |
94 | A>T | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000822019 CA5922881 RCV002535939 rs571318959 |
99 | E>G | Inborn genetic diseases Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1064793358 RCV000484440 RCV000812498 |
100 | R>missing | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001851422 RCV000517454 rs1554924008 CA379918984 |
100 | R>G | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs776859202 RCV000364776 RCV001814138 RCV001067775 RCV000509433 |
102 | K>missing | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001297232 RCV000370227 CA5922887 rs778956037 |
111 | T>P | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs878854367 RCV000233000 RCV001781633 RCV001853366 |
118 | E>missing | Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs575008764 RCV001532156 RCV001204069 CA5922916 |
123 | S>L | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001865444 rs370952911 RCV000727418 CA5922919 |
129 | Y>H | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003120511 RCV001254726 rs1852872996 |
132 | K>M | Limb-girdle muscular dystrophy Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299170 rs375867377 |
132 | K>N | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554924356 RCV000527894 CA379919451 |
138 | E>* | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000730314 CA5922926 RCV000824648 rs758319655 |
139 | V>A | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000695739 RCV000358512 CA5922927 rs757367942 RCV002487269 |
142 | T>S | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_080275 | 143 | Y>C | LGMDR12; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs1396031481 CA379919557 RCV003141812 RCV000807370 |
146 | V>I | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001197746 RCV001863117 rs780988638 CA5922930 |
153 | I>V | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5922931 RCV001316728 rs377650308 |
155 | E>K | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs866752563 RCV000812191 CA218735313 |
159 | P>T | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001251666 RCV000592537 CA5922934 RCV000792607 rs200531045 |
160 | R>C | Intellectual disability Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM542099 RCV000645357 RCV001103559 rs150652958 RCV000592737 CA5922935 |
160 | R>H | lung ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5922939 rs775841716 RCV001037073 |
173 | V>L | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1852879821 RCV001036402 RCV003141944 |
178 | S>R | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1852879938 RCV001041215 |
179 | V>M | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201932 CA379919877 rs1319423412 |
182 | P>L | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs140381407 RCV000558172 CA5922943 RCV000710579 |
185 | E>Q | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001103561 RCV001850615 CA5922951 RCV000732256 RCV000268930 rs143078257 RCV000307649 |
195 | R>Q | Limb-Girdle Muscular Dystrophy, Recessive Miyoshi myopathy ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs149040903 CA5922950 RCV000645353 RCV000710580 |
195 | R>W | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001070740 CA5922952 rs770413331 |
197 | E>K | Variant assessed as Somatic; 0.0 impact. Gnathodiaphyseal dysplasia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000701292 CA379919993 rs1323200040 |
200 | L>V | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001084526 RCV000243876 rs115750596 RCV001103562 CA5922957 RCV002259757 RCV002259758 VAR_080276 RCV002259756 RCV000710076 |
202 | E>K | Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs78266558 RCV002259604 RCV002259605 RCV002505038 VAR_080277 RCV001103563 CA151833 RCV000116355 RCV000551276 RCV000988502 |
206 | T>A | Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001300139 rs1852885137 |
206 | T>S | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774304728 RCV000704476 RCV000596649 |
208 | F>missing | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1490746741 CA379920077 RCV000520345 RCV002525192 |
213 | R>G | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs749876289 RCV000816761 CA5922984 RCV000481269 |
217 | V>A | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000313992 CA5922985 rs548449293 RCV000556854 RCV000726464 |
218 | Y>C | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs753667370 RCV000285640 RCV001859693 CA5922986 |
219 | Y>C | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA5922989 RCV001759799 RCV001054427 rs749915913 |
224 | C>S | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001529213 RCV000517516 rs757947963 RCV001373948 CA5922990 |
225 | P>L | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5922992 RCV001079543 RCV001105479 rs140903276 RCV000710581 RCV000388640 RCV000988503 |
227 | G>A | ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5922994 rs139259793 RCV000645360 RCV000369519 |
230 | D>G | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000082853 RCV000627782 rs137854523 RCV000825558 VAR_063582 CA224418 RCV000369126 RCV000002249 RCV000762830 |
231 | G>V | Gnathodiaphyseal dysplasia (gdd) Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Disorders Hereditary fructosuria Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001295436 rs1853214556 |
243 | S>Y | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1219063834 CA379920298 RCV000521764 RCV001210238 |
246 | Y>H | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1278466363 CA379920319 RCV000803554 |
249 | A>V | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs781734224 RCV000364651 RCV000663412 CA5923010 RCV000792580 |
250 | Y>C | Gnathodiaphyseal dysplasia (gdd) Variant assessed as Somatic; 0.0 impact. Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5923030 rs778212736 RCV001049064 |
255 | G>S | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA379920393 rs1590266227 RCV000805467 |
259 | K>* | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_080278 | 259 | K>N | LGMDR12; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000795251 RCV003166128 rs754281591 RCV003141779 CA5923031 |
263 | P>L | Inborn genetic diseases Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs377553546 CA379920433 RCV001203129 |
265 | N>I | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000528209 RCV000500288 CA5923033 VAR_080279 rs377553546 |
265 | N>S | Variant assessed as Somatic; 0.0 impact. Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001208718 RCV001105481 rs745908606 CA5923034 RCV000596807 VAR_080280 |
266 | P>L | Gnathodiaphyseal dysplasia (gdd) ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002259735 RCV001083542 CA5923035 RCV001105482 RCV002259736 VAR_080281 RCV002259737 RCV000214571 rs138144479 COSM1581834 RCV000710582 |
267 | T>S | Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L haematopoietic_and_lymphoid_tissue ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs769560800 RCV000282688 CA5923036 COSM687712 RCV000815307 |
268 | N>S | lung Variant assessed as Somatic; 0.0 impact. Gnathodiaphyseal dysplasia [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001785657 CA379920473 rs1380525804 RCV000560191 RCV001380019 |
271 | Y>* | Gnathodiaphyseal dysplasia (gdd) Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5923041 RCV000687526 RCV000724847 rs772929002 |
273 | L>F | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5923043 RCV001056915 rs758954110 |
274 | H>Y | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1853359096 RCV001228736 |
278 | A>V | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000732234 rs1564930625 CA379920522 RCV001855768 |
279 | R>* | Variant assessed as Somatic; impact. Gnathodiaphyseal dysplasia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA5923047 RCV001052410 rs201329725 RCV001759786 |
279 | R>Q | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000798801 CA379920537 RCV003141789 rs1590266478 |
281 | S>Y | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000725481 CA5923049 rs561417561 RCV001859604 |
282 | Y>C | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000991438 rs1590266513 |
289 | L>missing | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1458677325 RCV000798082 |
292 | I>missing | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001202871 rs1853361556 |
293 | K>Q | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001254063 rs1383346134 |
300 | I>missing | Miyoshi muscular dystrophy 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040399 rs1564935740 |
311 | T>K | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207010 rs1853761986 |
312 | E>K | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000261985 CA5923081 RCV001553832 RCV001553830 VAR_052339 rs7481951 RCV000128791 RCV000386589 CA149678 RCV001510484 RCV001553831 RCV000082855 RCV001105483 |
322 | L>F | Limb-Girdle Muscular Dystrophy, Recessive Miyoshi muscular dystrophy 3 Miyoshi myopathy Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000173931 RCV000082856 RCV000697761 rs398124626 RCV000509090 |
330 | L>missing | Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000732282 CA5923087 rs200553437 RCV000529030 |
332 | M>V | Variant assessed as Somatic; 0.0 impact. Gnathodiaphyseal dysplasia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001088728 RCV000266534 rs541372136 CA5923113 |
344 | P>R | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000434674 RCV001318641 CA5923116 rs146233625 |
346 | I>L | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000555966 rs139344099 RCV000323094 CA5923119 RCV000279574 RCV001105485 RCV000273232 |
348 | G>S | Limb-Girdle Muscular Dystrophy, Recessive Miyoshi myopathy ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886042583 RCV002519130 CA10604434 RCV002288960 RCV000353532 |
355 | L>F | Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_023524 CA232778 rs119103234 RCV000002245 RCV000128766 |
356 | C>G | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia GDD [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000128765 RCV000002244 rs119103234 CA232776 VAR_023525 |
356 | C>R | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia GDD [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_076476 | 356 | C>Y | GDD [UniProt] | Yes | UniProt |
|
CA379921084 rs1554929292 RCV000503034 |
360 | C>R | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA379921093 RCV000709830 rs1554929295 RCV000519901 |
361 | D>H | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554929301 CA379921112 RCV000800226 RCV000598911 |
363 | W>* | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM3375762 RCV002521946 CA5923127 RCV000355856 rs760792371 |
368 | T>M | Variant assessed as Somatic; 0.0 impact. pancreas Gnathodiaphyseal dysplasia [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10606414 RCV002519321 RCV000269414 rs886044154 |
369 | C>Y | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000757942 rs1564936489 |
386 | F>missing | Autosomal recessive limb-girdle muscular dystrophy type 2L [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000369291 CA10605033 rs886043042 RCV001201874 |
389 | F>L | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000554632 RCV000313937 RCV002518843 CA10604101 rs886042339 |
401 | W>C | Inborn genetic diseases Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs149656183 CA5923179 RCV001338189 |
401 | W>R | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000591842 RCV001854062 rs1554930267 CA379921410 |
403 | Q>* | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs566415362 CA210078 RCV000521518 RCV000201148 RCV001853222 COSM3670742 |
404 | R>* | Gnathodiaphyseal dysplasia (gdd) Variant assessed as Somatic; 0.0 impact. Autosomal recessive limb-girdle muscular dystrophy type 2L prostate Gnathodiaphyseal dysplasia [Ensembl, NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_080282 | 404 | R>L | LGMDR12; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs375834855 RCV000596996 RCV002530991 CA5923180 |
404 | R>Q | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs368970223 RCV000691930 RCV003157505 RCV000366049 CA5923181 RCV000664066 |
405 | Q>* | Gnathodiaphyseal dysplasia (gdd) Autosomal recessive limb-girdle muscular dystrophy type 2L Muscular dystrophy Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_080301 | 405 | Q>del | LGMDR12 [UniProt] | Yes | UniProt |
|
CA10604230 RCV001855104 RCV000327232 rs886042432 |
415 | V>M | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA379921533 RCV000664069 rs1554930314 |
421 | Q>* | Autosomal recessive limb-girdle muscular dystrophy type 2L [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_080283 | 421 | Q>del | LGMDR12 [UniProt] | Yes | UniProt |
|
RCV002532389 CA379921542 rs1554930319 RCV000592473 |
422 | Q>P | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000283292 RCV000380094 rs886048119 RCV001106641 CA10634413 |
426 | L>P | Limb-Girdle Muscular Dystrophy, Recessive Miyoshi myopathy ANO5-Related Muscle Diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA224408 RCV001851575 RCV000002246 rs137854524 RCV000082843 RCV000762831 |
432 | A>G | Gnathodiaphyseal dysplasia (gdd) Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5923193 RCV000793344 rs761417429 |
438 | K>Q | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1205351330 RCV001314939 CA379921664 |
440 | N>D | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003141871 RCV000855432 RCV001784470 rs754889480 RCV001858524 CA5923225 |
453 | Y>* | Gnathodiaphyseal dysplasia (gdd) Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs148698633 RCV003139837 COSM1581836 RCV000532929 CA5923226 |
454 | T>M | haematopoietic_and_lymphoid_tissue Gnathodiaphyseal dysplasia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5923228 RCV000700922 rs200633920 |
455 | R>C | Variant assessed as Somatic; 0.0 impact. Gnathodiaphyseal dysplasia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5923229 RCV003165741 RCV000691891 rs772899863 RCV000277548 |
455 | R>H | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Gnathodiaphyseal dysplasia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003142155 rs1854050845 RCV001215349 |
463 | G>E | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001266201 CA5923235 RCV000793949 rs776193177 RCV000369922 |
463 | G>R | Inborn genetic diseases Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM346300 rs529961953 RCV001535725 RCV000438945 RCV001227167 CA16606219 |
464 | A>D | lung ANO5-Related Disorders Gnathodiaphyseal dysplasia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs1403946332 RCV003141946 RCV001036857 |
470 | M>K | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1403946332 RCV000516073 CA379921972 |
470 | M>R | Autosomal recessive limb-girdle muscular dystrophy type 2L [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001040481 CA218765570 rs202040709 |
473 | V>I | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000543127 CA5923261 RCV002528415 rs149017832 RCV000732502 |
477 | M>T | Inborn genetic diseases Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000367149 rs886042702 RCV001859585 |
479 | A>G | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001850442 RCV001106643 RCV000341417 RCV000340589 CA5923264 RCV000401295 rs777607869 |
484 | R>C | Limb-Girdle Muscular Dystrophy, Recessive Miyoshi myopathy ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA379922081 rs1590300142 RCV000808862 |
488 | F>S | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001297723 rs375611559 RCV000293413 CA5923266 |
490 | T>A | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5923267 rs375611559 RCV001040668 |
490 | T>S | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001106644 rs141799673 VAR_080284 CA5923275 RCV000699271 RCV001251668 RCV000592037 |
506 | S>G | Intellectual disability ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000174967 RCV000706748 rs794727158 RCV000789023 |
507 | F>missing | Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA379922243 rs1354557357 RCV003135945 RCV001305242 |
512 | I>V | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_076477 RCV000487292 CA10606250 rs281865467 RCV000553314 |
513 | T>I | Gnathodiaphyseal dysplasia GDD; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA144627 rs397514736 RCV000054502 |
514 | T>I | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1854126127 RCV001223530 |
515 | S>* | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs190937193 CA5923282 RCV000393887 RCV001336202 RCV000703928 |
521 | L>F | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001065535 rs1854128264 |
523 | F>V | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768109557 RCV001221476 CA5923288 |
532 | F>L | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs281865480 RCV001729507 RCV000790803 RCV000791428 RCV000327025 |
543 | M>missing | Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001054536 rs1854131377 |
543 | M>I | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747719953 CA5923315 RCV001390092 RCV000331633 RCV000726228 |
547 | R>* | Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000758149 RCV000778318 RCV000807697 CA5923316 RCV000322343 rs139618850 VAR_080286 |
547 | R>Q | Gnathodiaphyseal dysplasia (gdd) Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Disorders Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_080285 | 547 | R>del | LGMDR12; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001106647 rs1277595417 CA379922515 |
551 | E>D | ANO5-Related Muscle Diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000498271 rs375014127 VAR_080287 RCV001808736 RCV000627020 CA5923318 RCV001068054 RCV001198354 RCV000414780 RCV002288963 |
555 | S>I | Gnathodiaphyseal dysplasia (gdd) Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Myopathy LGMDR12; unknown pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554931739 RCV000556429 CA379922545 |
555 | S>R | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000662217 RCV000662216 rs1554931773 RCV000662215 |
565 | F>missing | Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5923329 rs751404759 RCV000352334 RCV002521995 |
575 | V>I | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000128774 rs137854526 RCV002498636 RCV000405473 RCV002288618 CA232785 RCV002464119 RCV001814063 VAR_080288 |
578 | F>S | Gnathodiaphyseal dysplasia (gdd) Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA379922707 RCV000645358 rs1554931810 RCV003140033 |
579 | K>I | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs759064817 RCV000701545 |
580 | G>missing | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069026 CA5923334 rs267602823 |
582 | F>L | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001538088 COSM3687231 CA5923335 RCV001218324 rs375225649 |
583 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine Gnathodiaphyseal dysplasia [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1364860348 RCV000855428 CA379922746 |
585 | Y>* | Autosomal recessive limb-girdle muscular dystrophy type 2L [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5923338 rs369600326 RCV001216683 RCV000346410 |
587 | G>E | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs188150039 RCV000595828 CA379922771 RCV000754754 |
589 | Y>* | Autosomal recessive limb-girdle muscular dystrophy type 2L [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001319731 rs1854215396 |
597 | R>K | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5923367 rs201467684 RCV001108798 RCV001365396 |
601 | C>R | ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003139838 CA5923370 RCV000537022 rs763783201 |
608 | I>T | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1854241987 RCV001319057 |
613 | Q>K | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_080289 rs1422717390 CA379922988 |
618 | M>I | LGMDR12; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV001857891 rs1554931947 RCV000516402 CA379922994 |
619 | T>N | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5923376 RCV001214285 RCV000290801 rs766811349 |
627 | I>T | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748238790 RCV000645354 CA5923382 |
632 | Y>D | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000557341 CA5923405 rs540339861 |
635 | A>V | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000732855 RCV001108799 CA5923408 rs146341538 RCV001089163 RCV000354295 RCV000313562 |
642 | R>G | Gnathodiaphyseal dysplasia (gdd) Limb-Girdle Muscular Dystrophy, Recessive Miyoshi myopathy ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA379923292 RCV000703299 rs1302354806 |
644 | A>P | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1302354806 CA379923290 RCV001309683 |
644 | A>S | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5923412 RCV000365414 RCV001370597 rs762414395 |
645 | R>Q | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1398971952 CA379923300 RCV001052648 |
646 | T>A | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000498435 CA218774174 COSM390444 rs563666662 RCV000691138 |
652 | Y>C | lung Gnathodiaphyseal dysplasia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000820847 CA5923413 rs370610082 RCV000408179 |
653 | S>G | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001855686 CA379923354 rs1488095558 COSM3710048 RCV000732555 |
654 | R>* | Gnathodiaphyseal dysplasia (gdd) upper_aerodigestive_tract Gnathodiaphyseal dysplasia [Ensembl, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
VAR_068248 rs760137559 RCV000627022 RCV001860483 CA5923415 |
655 | W>C | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia MMD3; unknown pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001268144 RCV000535657 rs912174567 CA218774184 |
655 | W>R | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1854564032 RCV001342746 |
657 | Q>L | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA379923447 RCV001303690 rs1294495622 |
667 | L>H | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000523626 rs886043172 RCV001333777 RCV000700782 |
669 | L>missing | Miyoshi muscular dystrophy 3 Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3700042 RCV000699955 CA5923420 rs764261431 RCV000396502 |
671 | Y>C | Gnathodiaphyseal dysplasia (gdd) liver Gnathodiaphyseal dysplasia [Ensembl, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs137854527 RCV000128776 CA232789 RCV000645348 |
673 | Y>C | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000595902 RCV001867931 RCV002531018 rs777640863 CA5923449 |
680 | F>S | Inborn genetic diseases Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554934236 RCV000550406 CA379923615 |
684 | T>I | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000645346 CA379923628 rs1554934237 |
686 | F>V | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1411918733 RCV001342719 |
688 | A>T | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886042582 CA10604433 RCV000267020 RCV001859575 |
694 | P>S | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5923455 rs772625102 RCV000528684 |
699 | I>T | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_080290 | 701 | N>del | LGMDR12; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs768835530 CA5923458 RCV001330859 COSM1718052 |
706 | R>* | Miyoshi muscular dystrophy 3 Variant assessed as Somatic; 0.0 impact. NS [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA218775842 RCV000729727 RCV000645356 rs926233739 |
706 | R>Q | Variant assessed as Somatic; 0.0 impact. Gnathodiaphyseal dysplasia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001108801 RCV002288780 rs200631556 VAR_080291 RCV000988506 RCV000710577 CA241255 RCV000534324 |
714 | T>S | Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001859653 CA10605538 RCV000261799 rs886043450 |
715 | Q>R | Gnathodiaphyseal dysplasia (gdd) Variant assessed as Somatic; impact. Gnathodiaphyseal dysplasia [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001852151 RCV000175500 rs794727231 |
724 | A>* | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000175502 RCV000778319 rs797044667 |
726 | S>missing | ANO5-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000295585 CA5923471 RCV001244701 rs778772732 |
729 | V>I | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs745356431 CA10605995 RCV000305189 RCV002518020 |
731 | Q>H | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000734967 rs1564951438 CA379923995 RCV001246698 |
735 | Y>D | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001326351 rs1854679617 |
737 | M>L | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002518938 rs886042907 RCV000359347 CA10604844 |
746 | A>D | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10634420 RCV001108804 RCV000290696 RCV000385083 rs886048123 |
750 | A>V | Limb-Girdle Muscular Dystrophy, Recessive Miyoshi myopathy ANO5-Related Muscle Diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA130516 COSM1581837 RCV000128778 rs137854529 VAR_063583 RCV000032966 RCV000811162 RCV000002250 |
758 | R>C | Gnathodiaphyseal dysplasia (gdd) Miyoshi muscular dystrophy 3 (mmd3) Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L haematopoietic_and_lymphoid_tissue Gnathodiaphyseal dysplasia MMD3 and LGMDR12; unknown pathological significance [Ensembl, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs369058382 RCV000729228 RCV001224031 CA5923514 |
758 | R>H | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1854763150 RCV001322015 |
766 | S>T | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000032554 RCV001383897 rs137854528 RCV000128779 |
771 | Q>missing | Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001103649 rs751028884 RCV000351704 CA5923523 RCV000296657 RCV000732428 RCV000552280 |
773 | M>V | Gnathodiaphyseal dysplasia (gdd) Limb-Girdle Muscular Dystrophy, Recessive Miyoshi myopathy ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_080292 | 781 | L>P | LGMDR12; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000594419 CA5923528 RCV001854055 rs778067880 |
783 | V>A | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001071659 rs756648592 CA5923527 |
783 | V>I | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002259753 CA5923530 RCV000429535 rs146136277 RCV001083310 RCV002259755 RCV002259754 RCV000251079 |
785 | L>R | Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1854767183 RCV001327644 |
793 | T>S | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000540731 VAR_080293 RCV000988507 RCV001103650 RCV000176130 RCV002259706 RCV002259707 rs61910685 RCV002505257 CA201820 RCV002262771 |
796 | S>L | Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs762874007 CA5923537 RCV001196016 RCV001380381 |
799 | R>* | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747460085 CA5923539 RCV000555460 |
799 | R>Q | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1233836740 RCV001004953 VAR_080294 RCV001862743 CA379924469 |
804 | C>S | Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA5923580 RCV000293412 rs755040619 RCV000700577 |
806 | Y>C | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5923581 RCV000529159 rs781142402 |
809 | Y>D | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003135935 RCV001302009 rs1854836805 |
812 | P>L | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs547523498 RCV000821974 CA5923583 |
813 | P>H | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs145127621 RCV001850463 CA5923587 RCV000293643 |
816 | E>K | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001857892 CA379924585 rs1554935116 RCV000517389 |
819 | Y>C | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs769775434 RCV000731219 CA5923590 RCV001855757 |
820 | F>L | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000594131 rs770694933 RCV001215385 |
824 | Q>missing | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000400199 rs886048124 CA10634421 RCV000297460 RCV001103651 |
826 | W>C | Limb-Girdle Muscular Dystrophy, Recessive Miyoshi myopathy ANO5-Related Muscle Diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs766853141 RCV000821833 VAR_080295 CA5923596 RCV003141858 |
830 | A>V | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_080296 RCV000645350 RCV000778320 RCV002502129 RCV001729506 CA5923597 rs142073798 RCV000347528 |
833 | M>K | Gnathodiaphyseal dysplasia (gdd) Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Disorders Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001323377 rs1854840862 |
834 | T>M | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000645349 RCV000176243 rs794727350 |
835 | F>missing | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA379924692 RCV001307475 rs374725506 |
835 | F>I | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
| VAR_080297 | 839 | M>R | LGMDR12; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000727153 CA5923600 rs150442899 RCV001857893 RCV000518285 |
839 | M>T | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000176339 RCV001254725 RCV000791570 CA242241 RCV000778321 rs781027702 |
841 | H>D | Gnathodiaphyseal dysplasia (gdd) Limb-girdle muscular dystrophy ANO5-Related Disorders Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001058646 rs1405710743 CA379924911 |
852 | W>R | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000691573 RCV001266202 rs1311724644 CA379924930 |
854 | I>K | Inborn genetic diseases Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs145362994 CA5923622 RCV001726339 RCV000820537 |
860 | D>H | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1371210536 RCV001347406 |
865 | I>missing | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772869621 RCV000705187 CA5923625 |
865 | I>L | Gnathodiaphyseal dysplasia (gdd) Gnathodiaphyseal dysplasia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1223713660 CA379925017 RCV001065997 |
867 | R>I | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1554935928 RCV000530084 |
868 | E>missing | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1855000095 RCV001240638 |
870 | L>* | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5923628 RCV000544847 RCV000591501 rs189233047 |
871 | M>L | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000726854 RCV002524024 rs1131691364 CA379925075 |
875 | I>L | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001212196 rs1459697236 RCV000785920 CA379925134 |
879 | F>S | Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000521578 RCV002528244 rs1554935957 CA379925143 |
880 | E>G | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001245574 RCV000128782 CA218779582 RCV003142220 RCV002259603 VAR_052340 RCV000116354 RCV001103653 RCV000988508 RCV001082938 CA151830 RCV002259602 rs34969327 |
882 | N>K | Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1474144803 RCV001203444 CA379925367 |
897 | K>Q | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000176340 RCV001105586 RCV001082354 CA242244 RCV001333778 RCV000428732 rs148293985 VAR_080298 |
900 | M>L | ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia LGMDR12; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs772279212 RCV001867988 CA5923647 RCV000596375 |
904 | N>I | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5923651 rs764351643 RCV000793511 |
906 | A>V | Gnathodiaphyseal dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000594357 rs775383795 |
1 | M>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5922733 rs768320409 |
2 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349257174 CA379921879 |
2 | G>R | No |
ClinGen gnomAD |
|
|
CA379921885 rs1590202813 |
3 | D>A | No |
ClinGen Ensembl |
|
|
CA5922735 rs747960829 |
3 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5922737 rs773048192 |
5 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748716904 CA5922738 COSM428838 |
6 | L>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 8 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379921912 rs1191668273 |
8 | E>K | No |
ClinGen gnomAD |
|
|
CA379921913 rs1191668273 |
8 | E>Q | No |
ClinGen gnomAD |
|
|
CA379921929 rs1564903880 |
10 | L>S | No |
ClinGen Ensembl |
|
|
rs369407170 CA5922739 |
11 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1160099828 CA379921941 |
12 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 16 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760992965 CA5922763 |
17 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393621988 CA379923133 |
19 | K>Q | No |
ClinGen gnomAD |
|
|
CA379923138 rs1436991077 |
19 | K>R | No |
ClinGen gnomAD |
|
|
CA379923146 rs1370858251 |
20 | H>P | No |
ClinGen gnomAD |
|
|
rs776702097 CA5922766 COSM1162945 |
21 | I>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1330604818 CA379923156 |
22 | D>H | No |
ClinGen gnomAD |
|
|
RCV000734532 CA5922767 rs762035813 |
23 | Y>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1407092015 CA379923168 |
23 | Y>C | No |
ClinGen TOPMed |
|
|
rs973475765 CA218763408 |
25 | F>S | No |
ClinGen TOPMed |
|
|
rs577537543 CA218763409 |
26 | Q>L | No |
ClinGen Ensembl |
|
|
CA379923193 rs1255152608 |
27 | M>K | No |
ClinGen TOPMed |
|
|
CA5922769 rs368009744 |
28 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs747575706 CA218768189 |
30 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 31 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769167407 CA5922783 |
31 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 33 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379923599 rs1473133721 |
34 | S>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 34 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs886044020 | 36 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379923625 rs1183528293 |
36 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 38 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379923725 rs1428935323 |
41 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5922785 rs762116412 |
42 | N>H | No |
ClinGen ExAC |
|
|
rs889517310 CA218768214 |
42 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV000598330 rs1554920664 CA379924403 |
44 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA5922790 rs763119837 |
46 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750235317 CA5922816 |
47 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs750235317 CA5922817 |
47 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs147323556 CA379924746 |
47 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1410595589 CA379924755 |
48 | A>V | No |
ClinGen gnomAD |
|
|
rs143777403 CA379924780 |
52 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM687718 rs754495816 CA5922819 |
53 | L>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA379924803 rs1296271137 |
56 | R>K | No |
ClinGen gnomAD |
|
|
CA5922822 rs201725369 |
58 | R>G | Gnathodiaphyseal dysplasia (gdd) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1480521279 CA379924819 |
59 | L>P | No |
ClinGen TOPMed |
|
|
rs754497228 CA379925101 |
62 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA218774896 rs766878815 |
64 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs752254981 CA218774908 |
65 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752254981 CA5922837 |
65 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1483160224 CA379925156 |
66 | Q>E | No |
ClinGen gnomAD |
|
|
rs794727745 RCV000179063 |
67 | S>missing | No |
ClinVar dbSNP |
|
|
CA218774934 rs867709361 |
67 | S>R | No |
ClinGen Ensembl |
|
|
rs1254796261 RCV001311743 |
69 | D>missing | No |
ClinVar dbSNP |
|
|
CA379925224 rs1473735209 RCV000729494 |
70 | S>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA379925230 rs1187547198 |
71 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5922839 rs778443860 RCV000598381 |
73 | F>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs757733592 CA379925276 |
74 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757733592 CA5922841 |
74 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000404910 rs886044184 CA10606453 |
75 | D>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs368652492 CA5922842 |
76 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA379925307 rs1395879943 |
77 | I>V | No |
ClinGen gnomAD |
|
|
CA10604638 RCV000322665 rs886042750 |
78 | R>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA379925342 rs1395517007 |
79 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5922845 rs747146523 |
86 | Y>* | Gnathodiaphyseal dysplasia (gdd) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5922847 rs773184465 |
87 | V>A | No |
ClinGen ExAC |
|
|
CA379925439 rs34994927 |
87 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379925474 rs4312063 |
89 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 89 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379925475 rs1200514344 |
90 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1200514344 CA379925479 |
90 | V>L | No |
ClinGen gnomAD |
|
|
rs371599321 CA5922851 |
91 | K>* | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 94 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel CA5922855 rs754459197 |
95 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs201776515 COSM1637954 CA5922856 |
98 | A>V | bone [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA218734220 rs954701076 |
99 | E>D | No |
ClinGen TOPMed |
|
|
rs1564922516 RCV000729094 |
103 | E>missing | No |
ClinVar dbSNP |
|
|
rs755037890 CA5922883 |
103 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA5922884 rs781180716 |
104 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA5922885 rs748258258 |
105 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1488322693 CA379919058 |
106 | T>N | No |
ClinGen gnomAD |
|
|
rs1478457730 CA379919087 |
109 | R>* | No |
ClinGen TOPMed |
|
|
CA379919104 rs1271302523 |
110 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 111 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5922888 rs745616578 |
112 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5922889 rs771965186 COSM3979518 |
114 | E>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA379919178 rs1268491080 |
117 | I>V | No |
ClinGen TOPMed |
|
|
CA379919209 rs1590243673 |
119 | D>V | No |
ClinGen Ensembl |
|
|
CA218734281 rs71490613 |
121 | R>G | No |
ClinGen Ensembl |
|
|
rs747631931 CA5922915 |
122 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5922914 rs747631931 |
122 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379919264 rs1277829538 |
125 | D>Y | No |
ClinGen TOPMed |
|
|
CA5922918 rs766825597 |
126 | G>V | No |
ClinGen ExAC |
|
|
rs1275610954 CA379919308 |
128 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 130 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379919396 rs1460833999 |
134 | H>R | No |
ClinGen gnomAD |
|
|
rs752981082 CA5922922 |
134 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1295527746 CA379919413 |
135 | A>V | No |
ClinGen TOPMed |
|
|
rs1165635377 CA379919429 |
136 | P>L | No |
ClinGen gnomAD |
|
|
CA5922924 rs764172981 |
136 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1022005312 CA218735226 |
137 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 137 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753871250 CA5922925 RCV000592961 |
139 | V>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
COSM1581833 rs1339196022 CA379919579 |
147 | L>F | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs912120379 CA218735241 |
148 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5922929 rs754862014 |
150 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341693872 CA379919627 |
151 | M>V | No |
ClinGen gnomAD |
|
|
CA218735271 rs995637790 |
152 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA379919677 rs1205488145 |
154 | K>R | No |
ClinGen gnomAD |
|
|
CA379919698 rs769346104 |
155 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA218735307 rs867267676 |
156 | S>G | No |
ClinGen Ensembl |
|
|
rs772737326 CA5922933 |
157 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379919729 rs1287869775 COSM925971 |
158 | I>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 160 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000340916 rs886043523 CA10605618 |
161 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 161 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774878161 CA5922936 |
162 | K>N | No |
ClinGen ExAC |
|
|
CA5922937 rs759887116 |
168 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs139563739 CA5922938 |
170 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs977056246 CA218735341 |
171 | G>E | No |
ClinGen TOPMed |
|
|
CA5922941 rs146725859 |
178 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA218735372 rs915766003 |
181 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA379919891 rs1323516065 |
184 | P>L | No |
ClinGen gnomAD |
|
|
CA379919886 rs1434595370 |
184 | P>T | No |
ClinGen gnomAD |
|
|
CA5922944 rs766312075 |
186 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA379919900 rs1345886639 |
186 | Y>H | No |
ClinGen gnomAD |
|
|
rs754808979 CA5922946 |
187 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1197812976 CA379919939 |
191 | F>L | No |
ClinGen gnomAD |
|
|
rs886044162 CA10606423 RCV000264367 |
193 | R>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs146418790 CA5922949 |
194 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5922953 rs779376710 |
197 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1159592868 CA379919980 |
198 | L>F | No |
ClinGen gnomAD |
|
|
CA5922954 rs746312346 |
198 | L>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1159592868 CA379919981 |
198 | L>V | No |
ClinGen gnomAD |
|
|
CA379919992 rs1323200040 |
200 | L>F | No |
ClinGen gnomAD |
|
|
rs1460834095 CA379919998 |
201 | I>L | No |
ClinGen TOPMed |
|
|
rs750779803 CA379920012 |
203 | D>H | No |
ClinGen TOPMed |
|
|
rs750779803 CA218735468 |
203 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 204 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286557019 CA379920029 |
205 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5922961 rs765471054 |
210 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs142939381 CA218735506 |
211 | S>L | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1250438143 CA379920103 |
216 | I>M | No |
ClinGen gnomAD |
|
|
CA5922963 RCV000592595 rs759481080 |
216 | I>T | No |
ClinGen ClinVar ExAC dbSNP |
|
|
CA10604137 RCV000309376 rs886042372 |
222 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs200022934 CA5922987 |
223 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379920159 rs749915913 |
224 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs757947963 CA5922991 |
225 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867578091 CA218741182 |
227 | G>S | No |
ClinGen Ensembl |
|
|
CA379920179 rs1343910998 |
228 | I>L | No |
ClinGen TOPMed |
|
| TCGA novel | 228 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM687713 rs749374398 CA5922997 |
234 | R>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5922998 rs749374398 |
234 | R>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774498908 CA5922999 |
234 | R>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000994582 rs1590260083 CA379920244 |
237 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1026024524 CA218741227 |
238 | E>K | No |
ClinGen gnomAD |
|
|
rs1590260133 CA379920274 |
242 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 243 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5923003 rs761648888 |
244 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1590260176 CA379920292 |
245 | T>P | No |
ClinGen Ensembl |
|
|
rs764840472 CA5923004 |
245 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1330065063 CA597909024 |
246 | Y>* | No |
ClinGen gnomAD |
|
|
CA379920300 rs1223572713 |
246 | Y>S | No |
ClinGen gnomAD |
|
|
COSM1245119 rs757894763 CA5923006 |
247 | S>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1326315048 CA379920306 |
247 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5923008 rs751085690 |
248 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1013906800 CA218741303 |
249 | A>T | No |
ClinGen Ensembl |
|
|
rs1265518780 CA379920322 |
250 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1200195629 CA379920332 |
251 | P>L | No |
ClinGen gnomAD |
|
|
CA379920335 rs1159326828 |
252 | L>F | No |
ClinGen TOPMed |
|
|
RCV000393148 CA10607100 rs886044915 |
253 | H>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs748490606 CA5923011 |
253 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA379920340 rs1431478298 |
253 | H>Y | No |
ClinGen gnomAD |
|
|
rs794727981 RCV000180721 CA248285 |
256 | Q>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1374650064 CA379920375 |
256 | Q>H | No |
ClinGen gnomAD |
|
|
CA218744001 rs868734578 |
258 | W>* | No |
ClinGen TOPMed |
|
|
CA379920386 rs1468794341 |
258 | W>* | No |
ClinGen TOPMed |
|
|
CA218743995 rs747860868 |
258 | W>R | No |
ClinGen Ensembl |
|
|
CA379920406 rs1225936277 |
261 | S>P | No |
ClinGen gnomAD |
|
|
rs1311046624 CA379920418 |
262 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5923037 rs201800854 |
268 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379920453 rs1454085906 |
269 | E>K | No |
ClinGen TOPMed |
|
|
rs769728187 CA5923038 |
270 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs772951537 CA5923039 |
270 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1445016238 CA379920478 RCV000597799 |
272 | T>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5923044 rs766994696 |
275 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761221167 COSM3979519 CA5923046 |
276 | N>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA379920509 rs1399188226 |
277 | W>* | No |
ClinGen TOPMed |
|
|
rs754230440 CA5923048 |
280 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs144237879 CA5923050 |
284 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA379920557 rs1340338788 |
284 | Y>C | No |
ClinGen gnomAD |
|
|
CA379920577 RCV000498628 rs1554927050 |
287 | Q>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 287 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5923052 rs758566807 |
288 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA5923051 rs750719357 |
288 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA379920590 rs1233399626 |
289 | L>S | No |
ClinGen gnomAD |
|
|
rs780042919 CA5923053 |
289 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA379920600 CA379920601 rs1486471978 |
290 | D>E | No |
ClinGen Ensembl |
|
|
CA5923054 rs747123618 |
292 | I>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000384081 rs886043072 CA10605074 |
293 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10605075 rs886043073 RCV000292048 |
294 | N>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1179132597 CA379920645 |
295 | Y>C | No |
ClinGen gnomAD |
|
|
CA10605076 RCV000339995 rs886043074 |
297 | G>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs868110407 CA218752769 |
297 | G>E | No |
ClinGen Ensembl |
|
|
CA218752770 rs868397855 |
299 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 299 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000355245 CA10607028 rs886044659 |
300 | I>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs1383346134 | 300 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs886044659 CA379920679 |
300 | I>T | No |
ClinGen gnomAD |
|
|
CA379920682 rs1482268660 |
301 | G>S | No |
ClinGen TOPMed |
|
|
rs750762553 CA5923071 |
302 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5923072 rs552321775 |
303 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1347153816 CA379920698 |
303 | Y>C | No |
ClinGen gnomAD |
|
|
CA379920719 rs1236826718 |
306 | F>C | No |
ClinGen TOPMed |
|
|
rs886044187 RCV000377580 CA10606458 |
308 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA379920755 rs1564935740 |
311 | T>I | No |
ClinGen Ensembl |
|
|
rs996840535 CA218752826 |
313 | M>I | No |
ClinGen TOPMed |
|
|
CA379920766 rs1355528465 |
313 | M>L | No |
ClinGen TOPMed |
|
|
rs777672501 CA5923076 |
314 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1276900571 CA379920778 |
315 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5923078 rs757146037 |
317 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000513544 rs1554929135 CA379920792 |
317 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA379920803 rs1313609330 RCV000597607 |
319 | V>I | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA5923079 rs778729244 |
321 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs768341760 CA5923083 |
323 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5923082 rs746511547 |
323 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA379920828 rs768341760 |
323 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1481131608 CA379920832 |
324 | C>Y | No |
ClinGen gnomAD |
|
|
rs776022425 CA379920863 |
328 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5923084 rs776022425 |
328 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762319340 CA5923085 |
329 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA5923086 rs373814281 |
330 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 331 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379920877 rs1410560691 |
331 | S>T | No |
ClinGen gnomAD |
|
|
CA5923088 rs377619934 |
332 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 337 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1021140192 CA218752958 |
338 | S>G | No |
ClinGen TOPMed |
|
|
CA5923089 rs766507413 |
338 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1051569810 CA218753358 |
339 | T>I | No |
ClinGen TOPMed |
|
|
CA379920963 rs1253258984 |
341 | I>T | No |
ClinGen gnomAD |
|
|
CA5923112 rs765214128 |
343 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5923114 rs541372136 |
344 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379920986 rs1467623870 |
345 | E>K | No |
ClinGen gnomAD |
|
|
CA5923118 rs780757875 |
346 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146233625 CA5923117 |
346 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769256488 CA5923120 |
348 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5923121 rs373859984 CA218753463 |
350 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1159423610 CA379921024 |
351 | I>V | No |
ClinGen TOPMed |
|
|
rs991625488 CA218753464 |
352 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM1507741 CA218753476 rs886042583 |
355 | L>I | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 358 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560212768 CA5923122 |
359 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1326553523 CA379921120 |
364 | R>I | No |
ClinGen gnomAD |
|
|
CA218753551 rs994696565 |
367 | S>I | No |
ClinGen Ensembl |
|
|
rs772302608 CA5923125 |
367 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 371 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264144121 CA379921170 CA379921171 |
372 | S>* | No |
ClinGen gnomAD |
|
|
rs767148480 CA5923151 |
374 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs201863703 CA218753766 |
375 | S>P | No |
ClinGen 1000Genomes |
|
|
rs1222519017 CA379921232 |
379 | D>E | No |
ClinGen gnomAD |
|
|
rs755669996 CA5923153 |
380 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1306758618 CA379921235 |
380 | N>Y | No |
ClinGen gnomAD |
|
|
rs886042416 CA10604205 RCV000340318 |
381 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM1321728 rs1358881006 CA379921267 |
385 | F>L | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA5923156 rs756825991 |
388 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs779378581 CA5923157 |
390 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA379921305 rs1487140104 |
390 | M>T | No |
ClinGen TOPMed |
|
|
rs1590284403 CA379921312 |
391 | G>E | No |
ClinGen Ensembl |
|
|
CA379921325 rs1176480523 |
393 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1444882838 CA379921349 |
395 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 398 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 399 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379921401 rs1590292423 |
402 | K>E | No |
ClinGen Ensembl |
|
|
rs566415362 CA218757748 |
404 | R>G | Gnathodiaphyseal dysplasia (gdd) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs918732999 CA218757774 |
405 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5923183 rs755441788 |
407 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1213299645 CA379921451 |
410 | Y>H | No |
ClinGen TOPMed |
|
|
rs1315896980 CA379921471 |
412 | W>* | No |
ClinGen TOPMed |
|
|
rs1356601746 CA379921492 |
416 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 419 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5923188 rs749430702 |
420 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA379921541 rs1461600601 |
422 | Q>* | No |
ClinGen gnomAD |
|
|
rs771868816 CA5923189 |
423 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379921551 rs1239983708 |
423 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs771868816 CA5923190 |
423 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379921549 rs1188196705 |
423 | Q>R | No |
ClinGen Ensembl |
|
|
rs889173840 CA218757834 |
425 | Q>* | No |
ClinGen Ensembl |
|
|
rs199932112 CA5923191 |
428 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199932112 CA379921577 |
428 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA218757842 rs868273261 |
430 | F>Y | No |
ClinGen Ensembl |
|
|
rs776413829 RCV000994584 CA5923192 |
433 | M>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1174897078 CA379921652 |
438 | K>R | No |
ClinGen gnomAD |
|
|
rs1163578947 CA379921669 |
440 | N>K | No |
ClinGen TOPMed |
|
|
CA218757880 rs1007664332 |
441 | A>E | No |
ClinGen Ensembl |
|
|
CA5923196 rs762564785 |
443 | T>S | No |
ClinGen ExAC |
|
| TCGA novel | 445 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1231598963 | 445 | E>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5923224 COSM309165 rs745972421 |
447 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA379921732 rs1159530392 |
448 | P>A | No |
ClinGen gnomAD |
|
|
CA379921741 rs1564940541 |
449 | Y>C | No |
ClinGen Ensembl |
|
|
CA379921737 rs1382373646 |
449 | Y>N | No |
ClinGen gnomAD |
|
|
rs1362712764 CA379921745 CA379921747 |
450 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1292429341 CA379921769 |
453 | Y>C | No |
ClinGen TOPMed |
|
|
rs148698633 RCV000730053 CA379921775 |
454 | T>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5923230 RCV000387734 rs748907726 |
456 | I>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs770013241 CA5923231 |
457 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA218764272 rs770013241 |
457 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1398252521 CA379921793 |
458 | W>R | No |
ClinGen TOPMed |
|
|
rs1339858740 CA379921804 |
459 | Y>F | No |
ClinGen TOPMed |
|
|
rs146966268 CA5923233 |
460 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5923232 rs141194047 |
460 | F>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768130963 CA5923234 |
462 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000128770 rs137854525 |
464 | A>missing | No |
ClinVar dbSNP |
|
|
CA5923236 rs761276805 |
464 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs764452754 CA5923237 |
465 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 466 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000384851 rs765427574 CA5923240 |
469 | W>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs750472231 CA5923241 |
469 | W>* | No |
ClinGen ExAC |
|
|
CA379921859 rs1183218359 |
469 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1303108940 CA379921971 |
470 | M>L | No |
ClinGen gnomAD |
|
|
CA379921973 rs1403946332 |
470 | M>T | No |
ClinGen gnomAD |
|
|
rs762126536 CA5923257 |
471 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA218765574 rs202040709 |
473 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1739813 CA5923259 rs750702622 |
474 | V>I | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA379922005 rs1280623803 |
476 | S>G | No |
ClinGen gnomAD |
|
|
rs763178777 CA5923260 |
476 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5923262 rs751672368 |
477 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs886043190 CA10605220 RCV000268792 |
477 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA379922025 rs1484366063 |
479 | A>S | No |
ClinGen gnomAD |
|
|
CA5923263 rs756033526 |
481 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA379922051 rs1262656725 |
483 | Y>C | No |
ClinGen gnomAD |
|
|
CA379922110 rs1480046514 |
493 | S>G | No |
ClinGen gnomAD |
|
|
CA379922124 rs745446244 |
494 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379096621 CA379922125 |
495 | M>L | No |
ClinGen gnomAD |
|
|
rs771881830 CA5923269 |
495 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
RCV000733612 rs1379096621 CA379922126 |
495 | M>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5923270 rs779659449 |
496 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA379922143 rs1452788952 |
497 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5923271 rs746548151 |
499 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA10606949 RCV000277466 rs746548151 |
499 | A>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA218765660 rs1040900627 |
504 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA379922194 rs1468256420 |
505 | K>Q | No |
ClinGen TOPMed |
|
|
rs147924106 CA5923274 |
505 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1854124484 RCV001267987 |
506 | S>missing | No |
ClinVar dbSNP |
|
|
rs1302414683 RCV000732809 |
506 | S>missing | No |
ClinVar dbSNP |
|
|
CA379922207 rs1187671640 |
506 | S>R | No |
ClinGen TOPMed |
|
|
rs1285556188 CA379922223 |
509 | T>A | No |
ClinGen gnomAD |
|
|
rs1486335553 CA379922236 |
511 | Q>* | Gnathodiaphyseal dysplasia (gdd) [Ensembl] | No |
ClinGen TOPMed |
|
CA379922248 rs1377985193 |
512 | I>M | No |
ClinGen gnomAD |
|
|
CA379922257 rs397514736 |
514 | T>R | Gnathodiaphyseal dysplasia (gdd) [Ensembl] | No |
ClinGen gnomAD |
|
CA5923276 rs763125539 RCV000730817 |
517 | T>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5923277 rs766613400 |
517 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs201463445 CA5923280 |
518 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 518 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161144098 CA379922292 |
520 | C>W | No |
ClinGen gnomAD |
|
|
CA5923281 rs753656282 |
520 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA379922296 rs1354217271 |
521 | L>S | No |
ClinGen TOPMed |
|
|
rs1023563821 CA218765767 |
524 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5923284 rs750264312 |
525 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373972893 CA5923285 |
526 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746526529 CA5923287 |
529 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA5923289 rs559885632 |
533 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1564942037 RCV000761768 CA379922376 |
533 | Y>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA218765787 rs906812126 |
534 | E>D | No |
ClinGen TOPMed |
|
|
CA5923290 rs748540787 |
534 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379922389 rs1222275848 |
535 | K>* | No |
ClinGen gnomAD |
|
|
rs1267110076 CA379922395 |
535 | K>N | No |
ClinGen gnomAD |
|
|
CA379922397 rs770320815 CA5923291 |
536 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379922396 rs770320815 |
536 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238497571 CA379922405 |
537 | S>C | No |
ClinGen gnomAD |
|
|
rs773518330 CA5923292 |
537 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379922409 rs1441160065 |
538 | A>S | No |
ClinGen gnomAD |
|
|
rs1261959003 CA379922413 |
539 | W>G | No |
ClinGen Ensembl |
|
|
CA379922430 rs1181363061 |
541 | T>A | No |
ClinGen gnomAD |
|
|
rs747719953 CA379922485 |
547 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs281865465 CA218767930 |
548 | T>I | No |
ClinGen Ensembl |
|
|
rs1442658977 CA379922519 |
552 | Y>H | No |
ClinGen gnomAD |
|
|
CA5923317 rs778295156 |
553 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5923319 rs375014127 |
555 | S>N | Gnathodiaphyseal dysplasia (gdd) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
RCV000591834 rs1554931746 CA379922571 |
559 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5923322 rs772361544 RCV000295617 |
562 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP |
|
CA379922591 rs1348058258 |
562 | L>V | No |
ClinGen TOPMed |
|
|
rs886044101 RCV000378775 CA10606349 |
564 | Q>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1410381664 RCV000596326 CA379922607 |
564 | Q>L | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA379922627 rs1424817731 |
567 | N>S | No |
ClinGen gnomAD |
|
|
CA379922646 TCGA novel rs1415324050 |
569 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs765262083 CA201303 RCV000175113 |
570 | S>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5923325 rs765262083 |
570 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358754039 CA379922654 |
571 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1358754039 CA379922655 |
571 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA218767991 rs955482513 |
571 | S>T | No |
ClinGen Ensembl |
|
|
rs368389717 CA5923326 |
572 | C>* | Gnathodiaphyseal dysplasia (gdd) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5923330 rs751404759 |
575 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1018504220 CA218768033 |
576 | A>T | No |
ClinGen TOPMed |
|
|
CA5923331 rs767252082 |
577 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1352472594 CA379922721 |
581 | K>N | No |
ClinGen gnomAD |
|
|
rs755675271 CA5923333 |
581 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564943673 CA379922720 |
581 | K>R | No |
ClinGen Ensembl |
|
|
rs757788686 CA5923336 |
584 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5923337 rs779096931 |
586 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772152931 CA5923339 |
589 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA379922808 rs1419278156 |
594 | N>K | No |
ClinGen gnomAD |
|
|
CA379922810 rs1460474897 |
595 | E>K | No |
ClinGen gnomAD |
|
|
rs1159342132 CA379922819 |
596 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 597 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362469684 CA379922838 |
598 | S>I | No |
ClinGen gnomAD |
|
|
rs1362469684 CA379922839 |
598 | S>T | No |
ClinGen gnomAD |
|
|
rs538406891 CA218768106 |
599 | E>* | No |
ClinGen 1000Genomes |
|
|
rs747073743 CA5923341 |
600 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs771155107 CA218768612 |
601 | C>* | No |
ClinGen TOPMed |
|
|
rs775291949 CA5923368 |
602 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 604 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379922899 rs369606243 |
605 | G>D | No |
ClinGen gnomAD |
|
|
CA218768657 rs369606243 |
605 | G>V | No |
ClinGen gnomAD |
|
|
rs1257851959 CA379922902 |
606 | C>R | No |
ClinGen TOPMed |
|
|
rs1345436621 CA379922916 |
608 | I>V | No |
ClinGen TOPMed |
|
|
RCV000994585 rs1590306764 |
616 | I>FWN | No |
ClinVar dbSNP |
|
|
CA379922970 rs1168431058 |
616 | I>V | No |
ClinGen gnomAD |
|
|
rs963061485 CA218768701 |
617 | I>T | No |
ClinGen TOPMed |
|
|
CA379923052 rs766811349 |
627 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379923055 rs1235742290 |
628 | K>E | No |
ClinGen gnomAD |
|
|
CA5923381 rs755231182 |
630 | A>G | No |
ClinGen ExAC gnomAD |
|
|
RCV000596036 CA5923379 rs751996270 |
630 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
|
CA5923380 rs755231182 |
630 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5923383 rs756279371 |
632 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA379923090 rs1253384869 |
633 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 635 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213825261 CA379923243 |
636 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA218774123 RCV000733727 rs973595720 |
639 | W>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs886043515 RCV000353797 |
639 | W>missing | No |
ClinVar dbSNP |
|
|
rs372674175 CA5923406 |
641 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3935423 CA5923407 rs200265848 |
641 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs372674175 CA379923276 |
641 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5923409 rs146341538 |
642 | R>* | Gnathodiaphyseal dysplasia (gdd) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA379923281 rs199532484 |
642 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379923280 rs199532484 |
642 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5923410 COSM1353229 rs199532484 |
642 | R>Q | large_intestine central_nervous_system Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5923411 rs139303302 |
645 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA218774172 rs945102138 |
648 | S>C | No |
ClinGen Ensembl |
|
|
CA379923349 rs1263581083 |
653 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5923414 rs775059978 |
654 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760137559 CA379923362 |
655 | W>* | Gnathodiaphyseal dysplasia (gdd) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs886043829 CA10606004 RCV000324624 |
656 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1243399386 CA379923379 |
658 | D>N | No |
ClinGen TOPMed |
|
|
rs1177606947 CA379923387 |
659 | H>N | No |
ClinGen gnomAD |
|
|
CA379923399 rs1590322650 |
660 | D>V | No |
ClinGen Ensembl |
|
|
RCV000658416 CA218774194 rs944857212 |
661 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1472414854 CA379923407 |
661 | L>P | Gnathodiaphyseal dysplasia (gdd) [Ensembl] | No |
ClinGen gnomAD |
|
rs1162044853 CA379923409 |
662 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5923417 rs753021135 |
663 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 663 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000336990 rs1554933716 |
665 | G>missing | No |
ClinVar dbSNP |
|
|
RCV001091513 rs780201679 |
666 | P>missing | No |
ClinVar dbSNP |
|
|
rs1245583022 CA379923440 |
666 | P>H | No |
ClinGen TOPMed |
|
|
CA379923439 rs1314070467 |
666 | P>S | No |
ClinGen TOPMed |
|
|
COSM1660549 CA379923448 rs1294495622 |
667 | L>P | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1428729626 CA379923465 |
670 | F>C | No |
ClinGen TOPMed |
|
|
CA5923448 rs755923727 |
678 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 680 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5923450 rs777640863 |
680 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379923587 rs1056882055 |
682 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1056882055 CA218775769 |
682 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5923452 rs770725167 |
683 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 688 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1411918733 CA379923652 |
688 | A>S | No |
ClinGen gnomAD |
|
|
COSM1675896 CA218775787 rs866300225 |
691 | P>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA379923706 rs1358691859 |
693 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 694 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs929626016 CA218775800 |
696 | L>P | No |
ClinGen TOPMed |
|
|
CA379923739 rs1222161568 |
697 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 699 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1048794684 CA218775809 |
700 | N>S | No |
ClinGen TOPMed |
|
|
rs281865466 CA218775814 |
701 | N>D | No |
ClinGen gnomAD |
|
|
CA674654781 rs1287059359 |
701 | N>K | No |
ClinGen TOPMed |
|
|
CA5923456 rs775918204 |
701 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs761257306 CA5923457 |
702 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5923460 rs761975995 |
708 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1564951239 CA379923817 |
708 | D>N | No |
ClinGen Ensembl |
|
|
rs868221979 CA218775845 RCV000594139 |
709 | A>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
| TCGA novel | 709 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 710 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379923848 rs1564951267 |
712 | L>F | No |
ClinGen Ensembl |
|
|
CA5923463 rs543139046 |
713 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379923854 rs1487599092 |
713 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1006691558 CA218775863 |
714 | T>A | No |
ClinGen TOPMed |
|
|
CA379923866 rs886043450 |
715 | Q>L | Gnathodiaphyseal dysplasia (gdd) [Ensembl] | No |
ClinGen gnomAD |
|
CA379923872 rs1189800877 |
716 | Y>S | No |
ClinGen gnomAD |
|
|
CA5923467 rs763743308 |
720 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1419086010 CA379923923 |
724 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 725 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1053189991 CA379923945 |
727 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5923468 rs753732115 |
727 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1053189991 CA218775888 |
727 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5923469 rs756936956 |
728 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 730 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000358506 rs886042760 CA10604651 COSM278873 |
734 | L>I | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA5923474 rs757787478 |
735 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1564951438 CA379923997 |
735 | Y>H | No |
ClinGen Ensembl |
|
|
rs779620286 CA5923475 |
739 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA379924039 rs1216567128 |
741 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA379924037 rs1216567128 |
741 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs886042907 CA379924080 |
746 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5923510 rs748501553 |
748 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590331616 CA379924098 |
749 | V>F | No |
ClinGen Ensembl |
|
|
COSM3397617 rs373471188 CA5923511 |
752 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1268028191 CA379924117 |
752 | T>S | No |
ClinGen TOPMed |
|
|
rs1301531627 CA379924140 |
755 | I>M | No |
ClinGen gnomAD |
|
|
CA379924149 rs771229339 |
757 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5923513 rs771229339 |
757 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA218777008 rs142231956 |
759 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1186876536 RCV000734901 CA379924168 |
761 | Y>H | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs373292041 CA5923516 |
762 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA379924178 rs373292041 |
762 | Y>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs573638081 CA5923518 |
764 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5923519 rs750264803 |
764 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA218777040 rs1014191814 |
765 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1014191814 CA379924198 |
765 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1014191814 CA379924197 |
765 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs542510120 CA5923521 |
769 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA5923520 rs542510120 |
769 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs199932439 CA218777056 |
770 | T>I | No |
ClinGen 1000Genomes |
|
|
rs766096861 CA5923522 |
772 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1312903551 CA379924248 |
773 | M>I | No |
ClinGen gnomAD |
|
|
CA379924252 rs1305665401 |
774 | T>A | No |
ClinGen gnomAD |
|
|
RCV000731204 CA5923524 rs576088591 |
774 | T>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA379924256 rs1417094811 |
775 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 778 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379924285 rs1326200256 |
779 | N>D | No |
ClinGen gnomAD |
|
|
RCV000585043 rs1554934744 CA379924295 |
780 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs753138577 RCV000593128 CA5923526 |
782 | S>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 786 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5923531 rs779249709 |
788 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379924359 rs1195012434 |
790 | P>L | No |
ClinGen gnomAD |
|
|
rs746089972 CA5923532 |
792 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 793 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379924390 rs1470169073 |
795 | P>L | No |
ClinGen TOPMed |
|
|
rs545101053 CA218777103 |
795 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs545101053 CA10606549 RCV000310334 |
795 | P>T | No |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
|
CA5923533 rs61910685 |
796 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5923536 rs772852694 |
797 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs769902085 CA5923535 |
797 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5923538 rs762874007 |
799 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766977391 CA379924429 |
800 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 802 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379924444 rs1329564934 |
802 | I>L | No |
ClinGen gnomAD |
|
|
CA5923542 rs752230781 |
803 | T>I | No |
ClinGen ExAC TOPMed |
|
| rs756578795 | 804 | C>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233836740 CA379924467 |
804 | C>Y | No |
ClinGen gnomAD |
|
|
rs1350116611 CA379924475 |
805 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA218777119 rs763832654 |
805 | R>W | No |
ClinGen Ensembl |
|
|
CA5923579 rs747080002 |
806 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379924499 rs1157230736 |
807 | R>G | No |
ClinGen Ensembl |
|
|
CA379924526 rs1248812840 |
810 | R>S | No |
ClinGen gnomAD |
|
|
CA218777794 rs1004072211 |
811 | Y>* | No |
ClinGen TOPMed |
|
|
rs1453462378 CA379924535 RCV000598528 |
812 | P>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA379924546 rs866357544 |
814 | D>H | No |
ClinGen Ensembl |
|
|
CA218777802 rs866357544 |
814 | D>N | No |
ClinGen Ensembl |
|
|
CA5923585 rs774160498 |
815 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379924553 rs1393118989 |
815 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs145127621 RCV000276056 CA5923586 |
816 | E>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs760336798 CA5923589 |
816 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379924599 rs762352122 |
821 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA379924602 rs1246080547 |
821 | H>Q | No |
ClinGen TOPMed |
|
|
CA5923591 rs762352122 |
821 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 823 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218777838 rs202149380 |
825 | F>C | No |
ClinGen 1000Genomes |
|
|
TCGA novel rs1266927151 CA379924629 |
825 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
| TCGA novel | 826 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379924645 rs1481309512 |
827 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 828 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs796172838 CA218777847 |
828 | V>F | No |
ClinGen TOPMed |
|
|
rs766853141 CA379924666 |
830 | A>G | Gnathodiaphyseal dysplasia (gdd) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA218777859 rs371518298 |
831 | A>G | No |
ClinGen ESP |
|
|
CA379924667 rs1189109971 |
831 | A>T | No |
ClinGen gnomAD |
|
|
rs920490185 CA218777869 |
833 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs142073798 CA5923598 |
833 | M>R | Gnathodiaphyseal dysplasia (gdd) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1296041351 CA379924687 |
834 | T>A | No |
ClinGen TOPMed |
|
|
rs374725506 CA218777876 |
835 | F>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5923599 rs781289266 |
836 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1295612924 CA379924716 |
838 | V>A | No |
ClinGen TOPMed |
|
|
rs1301118954 CA379924719 |
839 | M>V | No |
ClinGen gnomAD |
|
|
COSM309166 CA379924841 rs781027702 |
841 | H>N | lung Gnathodiaphyseal dysplasia (gdd) [Cosmic, Ensembl] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs781027702 CA379924842 |
841 | H>Y | Gnathodiaphyseal dysplasia (gdd) Variant assessed as Somatic; 0.0 impact. [Ensembl, NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1238441971 CA379924851 |
842 | V>A | No |
ClinGen TOPMed |
|
|
rs922612820 CA218779504 |
842 | V>I | No |
ClinGen TOPMed |
|
|
CA218779508 rs934001094 |
843 | V>M | No |
ClinGen Ensembl |
|
|
CA379924858 rs1281717266 |
844 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 844 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 845 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs184158562 CA5923617 |
846 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5923619 COSM1353235 rs574225924 |
847 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs375940033 CA5923618 COSM1353234 |
847 | K>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM3700043 CA379924896 rs1284450055 |
849 | L>W | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA379924901 rs1175555170 |
850 | L>Q | No |
ClinGen gnomAD |
|
|
rs1049777661 CA218779524 |
852 | W>* | No |
ClinGen Ensembl |
|
|
rs746829991 CA5923620 |
855 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379924935 rs746829991 |
855 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5923621 rs768342046 |
856 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1346740717 CA379924948 |
857 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 859 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379924967 rs145362994 |
860 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5923623 COSM1581838 rs149208423 |
862 | V>A | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1438307725 CA379924981 |
862 | V>L | No |
ClinGen gnomAD |
|
|
CA379924984 rs1442498026 |
863 | E>Q | No |
ClinGen gnomAD |
|
|
CA379925009 rs1182692832 |
866 | K>R | No |
ClinGen TOPMed |
|
|
rs886042556 RCV000343001 |
867 | R>missing | No |
ClinVar dbSNP |
|
|
rs1285444795 CA379925022 |
868 | E>* | No |
ClinGen gnomAD |
|
|
CA5923626 rs763512073 |
869 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs372387443 CA218779554 |
871 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs759872245 CA5923629 |
872 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1037501478 CA218779560 |
873 | I>V | No |
ClinGen gnomAD |
|
|
CA379925091 rs1488939653 |
876 | L>V | No |
ClinGen TOPMed |
|
|
rs752808307 CA5923631 |
877 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5923630 rs767933338 |
877 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA218779564 rs866863322 |
877 | H>Y | No |
ClinGen Ensembl |
|
|
rs1394763627 CA379925157 |
881 | L>R | No |
ClinGen gnomAD |
|
|
rs760983150 CA5923632 |
882 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs753960763 CA5923633 |
883 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA379925198 rs1564956698 |
884 | L>F | No |
ClinGen Ensembl |
|
|
CA674660990 rs1316732230 |
885 | K>N | No |
ClinGen TOPMed |
|
|
CA5923635 rs780024919 |
889 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 891 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5923636 rs751365803 |
891 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA674661034 rs1400084396 |
892 | S>* | No |
ClinGen TOPMed |
|
|
CA379925303 rs1272883439 |
892 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 892 | S>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754663101 CA5923637 |
892 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215783320 CA379925310 |
893 | N>D | No |
ClinGen gnomAD |
|
|
CA379925316 rs1296287092 |
893 | N>S | No |
ClinGen TOPMed |
|
|
rs1437290055 CA379925336 |
894 | E>D | No |
ClinGen gnomAD |
|
|
rs1271019693 CA379925324 |
894 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5923638 rs781052833 |
896 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186969872 CA379925374 |
897 | K>R | No |
ClinGen gnomAD |
|
|
rs777384159 CA5923641 |
898 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs886043973 RCV000380722 CA10606179 |
899 | V>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA218779618 rs865840711 |
900 | M>I | No |
ClinGen Ensembl |
|
|
rs1395263508 CA379925414 |
900 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774936921 CA5923643 |
901 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771546796 CA5923642 |
901 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1265381857 CA379925424 |
901 | I>V | No |
ClinGen TOPMed |
|
|
CA379925434 rs1372961456 |
902 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1356467339 CA379925458 |
903 | E>G | No |
ClinGen gnomAD |
|
|
rs760778866 CA5923649 |
905 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA5923650 rs764351643 |
906 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5923653 rs765305152 |
907 | Q>K | No |
ClinGen ExAC |
|
|
CA5923654 rs751394880 |
908 | L>M | No |
ClinGen ExAC |
|
|
rs541341088 CA5923656 |
909 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754963729 CA5923655 RCV000260874 |
909 | A>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1190713613 CA379925563 |
912 | T>A | No |
ClinGen gnomAD |
|
|
CA5923657 rs746934922 |
914 | L>I | No |
ClinGen ExAC gnomAD |
3 associated diseases with Q75V66
[MIM: 166260]: Gnathodiaphyseal dysplasia (GDD)
Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity. {ECO:0000269|PubMed:15124103, ECO:0000269|PubMed:23047743, ECO:0000269|PubMed:27216912}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 611307]: Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12)
An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. {ECO:0000269|PubMed:20096397, ECO:0000269|PubMed:22499103, ECO:0000269|PubMed:25864073, ECO:0000269|PubMed:25891276}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613319]: Miyoshi muscular dystrophy 3 (MMD3)
A late-onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric. {ECO:0000269|PubMed:20096397, ECO:0000269|PubMed:22499103}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity. {ECO:0000269|PubMed:15124103, ECO:0000269|PubMed:23047743, ECO:0000269|PubMed:27216912}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. {ECO:0000269|PubMed:20096397, ECO:0000269|PubMed:22499103, ECO:0000269|PubMed:25864073, ECO:0000269|PubMed:25891276}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A late-onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric. {ECO:0000269|PubMed:20096397, ECO:0000269|PubMed:22499103}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for Q75V66
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Peptidase M41 | 470 - 658 | IPR000642 |
| domain | AAA+ ATPase domain | 252 - 391 | IPR003593 |
| domain | ATPase, AAA-type, core | 256 - 387 | IPR003959 |
| conserved_site | ATPase, AAA-type, conserved site | 359 - 377 | IPR003960 |
| domain | Peptidase M41, FtsH extracellular | 63 - 150 | IPR011546 |
| domain | AAA ATPase, AAA+ lid domain | 412 - 454 | IPR041569 |
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| chloride channel activity | Enables the facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| intracellular calcium activated chloride channel activity | Enables the transmembrane transfer of chloride by a channel that opens in response to stimulus by a calcium ion or ions. Transport by a channel involves catalysis of facilitated diffusion of a solute (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel, without evidence for a carrier-mediated mechanism. |
| protein dimerization activity | The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| chloride transmembrane transport | The process in which chloride is transported across a membrane. |
| chloride transport | The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| ion transmembrane transport | A process in which an ion is transported across a membrane. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9NW15 | ANO10 | Anoctamin-10 | Homo sapiens (Human) | PR |
| A1A5B4 | ANO9 | Anoctamin-9 | Homo sapiens (Human) | PR |
| Q9NQ90 | ANO2 | Anoctamin-2 | Homo sapiens (Human) | PR |
| Q6IWH7 | ANO7 | Anoctamin-7 | Homo sapiens (Human) | PR |
| A2AHL1 | Ano3 | Anoctamin-3 | Mus musculus (Mouse) | PR |
| Q8CFW1 | Ano2 | Anoctamin-2 | Mus musculus (Mouse) | PR |
| Q14AT5 | Ano7 | Anoctamin-7 | Mus musculus (Mouse) | PR |
| Q6IFT6 | Ano7 | Anoctamin-7 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGDPDLLEVL | AEEGEKVNKH | IDYSFQMSEQ | SLSSRETSFL | INEETMPAKR | FNLFLRRRLM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FQKNQQSKDS | IFFRDGIRQI | DFVLSYVDDV | KKDAELKAER | RKEFETNLRK | TGLELEIEDK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RDSEDGRTYF | VKIHAPWEVL | VTYAEVLGIK | MPIKESDIPR | PKHTPISYVL | GPVRLPLSVK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YPHPEYFTAQ | FSRHRQELFL | IEDQATFFPS | SSRNRIVYYI | LSRCPFGIED | GKKRFGIERL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LNSNTYSSAY | PLHDGQYWKP | SEPPNPTNER | YTLHQNWARF | SYFYKEQPLD | LIKNYYGEKI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GIYFVFLGFY | TEMLFFAAVV | GLACFIYGLL | SMEHNTSSTE | ICDPEIGGQM | IMCPLCDQVC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DYWRLNSTCL | ASKFSHLFDN | ESTVFFAIFM | GIWVTLFLEF | WKQRQARLEY | EWDLVDFEEE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QQQLQLRPEF | EAMCKHRKLN | AVTKEMEPYM | PLYTRIPWYF | LSGATVTLWM | SLVVTSMVAV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IVYRLSVFAT | FASFMESDAS | LKQVKSFLTP | QITTSLTGSC | LNFIVILILN | FFYEKISAWI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TKMEIPRTYQ | EYESSLTLKM | FLFQFVNFYS | SCFYVAFFKG | KFVGYPGKYT | YLFNEWRSEE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| CDPGGCLIEL | TTQLTIIMTG | KQIFGNIKEA | IYPLALNWWR | RRKARTNSEK | LYSRWEQDHD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LESFGPLGLF | YEYLETVTQF | GFVTLFVASF | PLAPLLALIN | NIVEIRVDAW | KLTTQYRRTV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ASKAHSIGVW | QDILYGMAVL | SVATNAFIVA | FTSDIIPRLV | YYYAYSTNAT | QPMTGYVNNS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LSVFLIADFP | NHTAPSEKRD | FITCRYRDYR | YPPDDENKYF | HNMQFWHVLA | AKMTFIIVME |
| 850 | 860 | 870 | 880 | 890 | 900 |
| HVVFLVKFLL | AWMIPDVPKD | VVERIKREKL | MTIKILHDFE | LNKLKENLGI | NSNEFAKHVM |
| 910 | |||||
| IEENKAQLAK | STL |