P42357
PR
Gene name |
HAL (HIS) |
Protein name |
Histidine ammonia-lyase |
Names |
Histidase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3034 |
EC number |
4.3.1.3: Ammonia-lyases |
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 P42357
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P42357-F1 | Predicted | AlphaFoldDB |
599 variants for P42357
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001113243 rs201646460 CA6728185 |
9 | R>C | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6728172 rs780094875 RCV000389648 |
26 | W>* | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs146640236 RCV001113241 CA6728170 |
29 | R>Q | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000330412 rs150051467 CA6728167 |
32 | V>L | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6728094 rs142371886 RCV001111237 |
96 | S>F | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000329059 CA6728070 rs143854097 |
108 | R>W | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001111235 CA6728041 rs139831415 |
123 | T>M | Variant assessed as Somatic; 0.0 impact. Histidinemia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs781172842 CA6728035 RCV000269373 |
133 | R>H | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6728008 RCV001111234 rs200116994 |
141 | T>A | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000779123 rs1365129216 CA386090949 |
159 | E>* | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA6727971 RCV000357857 RCV002522259 rs137949606 |
165 | G>S | Histidinemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001110478 CA6727901 rs541743724 |
197 | G>A | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000001757 rs121434327 VAR_022915 CA115143 |
206 | R>T | Histidinemia HISTID [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA115144 rs121434328 RCV000001758 VAR_022916 |
208 | R>L | Histidinemia HISTID [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA6727893 RCV001110477 rs121434328 |
208 | R>Q | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs143844261 CA6727883 RCV000303245 |
229 | T>I | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001114515 CA6727862 rs145831585 |
242 | L>M | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs769377973 RCV001114514 CA6727857 |
251 | V>I | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs121434329 CA115145 VAR_022917 RCV000001759 |
259 | P>L | Histidinemia HISTID [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs140891326 CA6727836 RCV000338345 |
281 | A>T | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs121434330 CA115146 RCV000001760 VAR_022918 |
322 | R>P | Histidinemia HISTID [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM1253946 RCV001113150 rs181887143 CA6727714 |
359 | R>H | oesophagus Histidinemia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1949884460 RCV001113149 |
364 | V>I | Histidinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000954736 CA6727709 rs117991621 RCV000295732 |
369 | R>Q | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001113148 rs1949881722 |
388 | C>Y | Histidinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139643676 RCV001113147 CA6727687 |
390 | R>H | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1565988698 RCV001113146 CA386086869 |
426 | T>R | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6727622 RCV000385709 VAR_006042 rs7297245 |
439 | V>I | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6727621 rs150083495 RCV001111135 |
443 | N>K | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3417298 rs147706824 CA6727585 RCV000290143 |
472 | E>K | large_intestine Histidinemia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002556171 RCV001111134 rs759917804 CA6727580 |
476 | N>K | Histidinemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10643569 rs886049901 RCV000325239 |
485 | F>L | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs141635447 RCV001110397 CA6727571 |
491 | G>V | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM2046490 rs183059673 RCV001110395 CA6727524 |
532 | V>I | oesophagus Histidinemia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001110394 rs150591434 CA6727522 |
537 | W>R | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs61937878 RCV001110393 CA6727513 |
549 | V>M | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001110392 CA6727468 COSM244858 rs141674733 |
575 | P>L | prostate Histidinemia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001110391 CA6727458 rs201632329 |
585 | S>C | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000321077 rs143935341 CA6727421 |
598 | P>L | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6727417 COSM1364991 rs377498665 RCV000265969 |
601 | E>K | large_intestine Histidinemia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC dbSNP gnomAD |
|
rs2080719373 RCV001114430 |
608 | L>P | Histidinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001114429 CA6727372 rs144698271 |
645 | H>Y | Histidinemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM1209282 CA6728188 rs763157217 |
5 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA386092605 rs1266512775 |
6 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs377492001 CA6728186 |
8 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6728184 rs561343396 |
9 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201646460 CA386092565 |
9 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1304347305 CA386092556 |
10 | G>R | No |
ClinGen gnomAD |
|
|
CA6728183 rs118129111 |
11 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386092523 rs1329872246 |
12 | W>R | No |
ClinGen gnomAD |
|
|
CA386092508 rs1198382371 |
13 | L>R | No |
ClinGen gnomAD |
|
|
rs1301138509 CA386092507 |
14 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6728181 rs774951073 |
15 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs188894951 CA6728180 |
16 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386092490 rs1375600575 |
17 | C>R | No |
ClinGen gnomAD |
|
|
rs1173831692 CA386092481 |
18 | Q>* | No |
ClinGen gnomAD |
|
|
rs745610347 CA6728179 |
18 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs200511325 CA6728177 |
20 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6728176 rs377659668 |
20 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1287529711 CA386092460 |
21 | Q>R | No |
ClinGen gnomAD |
|
|
CA241423379 rs878908514 |
26 | W>* | No |
ClinGen Ensembl |
|
|
CA386092431 rs751660582 |
26 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751660582 CA6728173 |
26 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386092420 rs1481298064 |
28 | G>S | No |
ClinGen TOPMed |
|
|
COSM1364998 rs758667702 CA6728171 |
29 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6728169 rs200378454 |
31 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386092397 rs1164622974 |
32 | V>E | No |
ClinGen TOPMed |
|
|
rs150051467 CA386092398 |
32 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6728165 rs1400933304 |
33 | R>K | No |
ClinGen gnomAD |
|
|
rs1467184691 CA386092386 |
34 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA386092384 rs1421309560 |
34 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA386092383 rs1421309560 |
34 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs764715928 CA6728163 |
35 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA386092370 rs1415623229 |
36 | I>M | No |
ClinGen TOPMed |
|
|
CA6728162 rs760196936 |
36 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs771578136 CA6728160 |
38 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1196384168 CA386092341 |
40 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 40 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6728158 rs774011654 |
41 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 41 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770768605 CA6728157 |
42 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1227690561 CA386092330 |
42 | N>S | No |
ClinGen TOPMed |
|
|
rs749095230 CA6728156 |
43 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs747007872 CA6728153 |
46 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6728154 rs769750525 |
46 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1364997 rs780228604 CA6728152 |
48 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs750727447 CA6728150 |
49 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273272797 CA386092284 |
50 | D>H | No |
ClinGen TOPMed |
|
|
CA6728149 rs578056615 |
51 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386092242 rs1368054373 |
56 | R>L | No |
ClinGen gnomAD |
|
|
CA6728147 rs370739722 |
56 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756666507 CA386092239 |
57 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752127774 CA386092237 |
57 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752127774 CA6728144 |
57 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6728145 rs756666507 |
57 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469296677 CA386092233 |
58 | C>Y | No |
ClinGen gnomAD |
|
|
rs1360449849 CA386092222 |
59 | K>N | No |
ClinGen gnomAD |
|
|
rs1292561250 CA386092228 |
59 | K>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 60 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762540017 CA6728142 |
60 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA386092197 rs1374079918 |
64 | L>P | No |
ClinGen gnomAD |
|
|
rs1447063106 CA386092188 |
65 | D>E | No |
ClinGen TOPMed |
|
|
rs762695256 CA386092180 |
66 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386092178 rs1421629658 |
67 | E>K | No |
ClinGen gnomAD |
|
|
CA6728138 rs773008807 COSM216293 |
69 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs867312256 CA241423168 |
71 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs867312256 CA386092152 |
71 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6728136 rs748153737 |
71 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA241423156 rs952439357 |
72 | V>G | No |
ClinGen Ensembl |
|
|
CA386092124 rs1378612263 |
75 | E>D | No |
ClinGen gnomAD |
|
|
CA6728135 rs201092783 |
75 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1054604833 CA241423144 |
76 | N>D | No |
ClinGen TOPMed |
|
|
CA386092115 rs1441455304 |
77 | N>D | No |
ClinGen TOPMed |
|
|
rs772255195 CA6728133 |
78 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs370653142 CA6728130 |
80 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749620814 CA6728128 |
81 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6728129 rs749620814 |
81 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6728126 rs756549606 |
83 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208740282 CA386092055 |
84 | I>T | No |
ClinGen gnomAD |
|
|
rs1458172066 CA386092046 |
85 | E>D | No |
ClinGen gnomAD |
|
|
rs764044948 CA6728098 |
86 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565995261 CA386092030 |
88 | A>S | No |
ClinGen Ensembl |
|
|
rs1565995256 CA386092009 COSM1659406 |
91 | P>S | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA386092004 rs1214180883 |
92 | D>H | No |
ClinGen TOPMed |
|
|
rs1333995205 CA386091944 |
100 | G>E | No |
ClinGen gnomAD |
|
|
rs1565995235 CA386091942 |
101 | V>L | No |
ClinGen Ensembl |
|
|
rs1464497771 CA386091934 |
102 | Y>C | No |
ClinGen gnomAD |
|
|
rs773500064 CA6728092 |
103 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA386091903 rs1565995155 |
105 | S>N | No |
ClinGen Ensembl |
|
|
rs1192733298 CA386091885 |
107 | Y>F | No |
ClinGen gnomAD |
|
|
rs1267909745 CA386091890 |
107 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6728069 rs567780663 |
108 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1354677407 CA386091873 |
109 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA386091869 rs1472447094 |
110 | P>S | No |
ClinGen TOPMed |
|
|
CA386091864 rs1288260638 |
111 | E>Q | No |
ClinGen gnomAD |
|
|
CA6728068 rs770035518 |
112 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6728047 rs764306975 |
115 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA241421906 rs918053105 |
116 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6728044 rs566723465 |
117 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6728045 rs775858091 |
117 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1428445811 CA386091732 |
119 | D>G | No |
ClinGen gnomAD |
|
|
CA241421900 rs746402806 |
120 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM302348 rs377255259 CA6728042 |
120 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs377255259 CA386091717 |
120 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6728043 rs746402806 |
120 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 121 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755851058 CA6728038 |
128 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA386091581 rs1428699253 |
132 | G>* | No |
ClinGen TOPMed |
|
|
CA386091575 rs1482574005 |
132 | G>V | No |
ClinGen gnomAD |
|
|
COSM550349 rs747932603 CA6728036 |
133 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386091573 rs747932603 |
133 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320502100 CA386091556 |
134 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1320502100 CA386091554 |
134 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA386091107 rs1340631940 |
136 | I>M | No |
ClinGen gnomAD |
|
|
rs529871467 CA6728034 |
136 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386091086 rs1165265835 |
138 | L>F | No |
ClinGen gnomAD |
|
|
CA386091080 rs1592851709 |
139 | T>S | No |
ClinGen Ensembl |
|
|
CA386091074 rs1384758091 |
140 | P>S | No |
ClinGen gnomAD |
|
|
rs1181582661 CA386091056 |
143 | E>G | No |
ClinGen gnomAD |
|
|
rs1592851685 CA386091050 |
144 | K>E | No |
ClinGen Ensembl |
|
|
CA386091032 rs1292444673 |
146 | V>E | No |
ClinGen gnomAD |
|
|
rs759755201 CA6728005 |
147 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1457096098 CA386091021 |
148 | K>* | No |
ClinGen gnomAD |
|
|
rs751975154 CA6728004 |
149 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1255691891 CA386091003 |
151 | E>K | No |
ClinGen gnomAD |
|
|
CA6728002 rs763555567 |
152 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386090986 rs1278924878 |
153 | I>T | No |
ClinGen gnomAD |
|
|
CA6728000 rs377080079 |
154 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6728001 rs377080079 |
154 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386090972 rs1485237801 |
155 | S>T | No |
ClinGen TOPMed |
|
|
rs776353511 CA6727998 |
156 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6727997 rs150136984 |
157 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386090948 rs1365129216 |
159 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 161 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA241421630 rs1042348459 |
162 | V>F | No |
ClinGen TOPMed |
|
|
rs17024973 CA6727973 |
164 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs137949606 CA241421507 |
165 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA241421503 rs1036927714 COSM3376412 |
166 | I>V | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1387012217 CA386090879 |
167 | T>A | No |
ClinGen gnomAD |
|
|
rs1279843946 CA386090874 |
167 | T>I | No |
ClinGen gnomAD |
|
|
rs1360054464 CA386090833 |
171 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 175 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770888966 CA6727969 |
176 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs781369306 CA6727967 |
177 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs773461831 CA386090722 |
179 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727966 rs773461831 |
179 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386090714 rs1370208399 |
180 | I>V | No |
ClinGen TOPMed |
|
|
CA386090694 rs1423000832 |
181 | N>S | No |
ClinGen TOPMed |
|
|
CA241421276 rs1000757570 |
186 | L>V | No |
ClinGen TOPMed |
|
|
CA241421272 rs375109025 |
187 | Q>K | No |
ClinGen ESP |
|
|
CA6727926 rs746161567 |
187 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727925 rs779408285 |
188 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs748718490 CA241421248 |
189 | N>D | No |
ClinGen Ensembl |
|
|
CA6727924 rs749621956 |
192 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727923 rs749621956 |
192 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727922 COSM944725 rs778306212 |
192 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6727919 rs145312493 |
193 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6727920 rs145312493 |
193 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756603230 CA6727921 |
193 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA386090465 rs1488737783 |
194 | H>Y | No |
ClinGen gnomAD |
|
|
CA241420848 rs541743724 |
197 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386090447 rs1367806467 |
197 | G>S | No |
ClinGen TOPMed |
|
|
CA6727898 rs758034786 |
198 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6727900 rs779633523 |
198 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727899 rs779633523 |
198 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386090414 rs1487574481 |
201 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1487574481 CA386090415 |
201 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1485371961 CA386090408 |
202 | L>Q | No |
ClinGen TOPMed |
|
|
CA6727897 rs140239683 |
203 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386090397 rs1249298300 |
204 | P>A | No |
ClinGen gnomAD |
|
|
CA386090390 rs1270098476 |
205 | E>* | No |
ClinGen TOPMed |
|
|
CA6727896 rs121434327 |
206 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727895 rs753771202 |
206 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs764135653 CA6727894 |
208 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766604183 CA6727891 |
209 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1331818861 CA386090365 |
209 | M>K | No |
ClinGen gnomAD |
|
| TCGA novel | 210 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386090322 rs763148961 |
216 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727890 rs763148961 |
216 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs900646249 CA241420805 |
216 | N>S | No |
ClinGen TOPMed |
|
|
CA241420814 rs763148961 |
216 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166426038 CA386090297 |
220 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 220 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461663293 CA386090294 |
220 | K>R | No |
ClinGen gnomAD |
|
|
CA386090287 rs1386015917 |
221 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA386090288 rs1592850701 |
221 | G>R | No |
ClinGen Ensembl |
|
|
rs866243341 CA241420801 |
223 | S>G | No |
ClinGen Ensembl |
|
|
rs146651452 CA6727889 |
223 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377384630 CA6727887 |
225 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6727886 rs777082267 |
226 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746498448 CA6727884 |
228 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs758066170 CA6727882 |
231 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727881 rs745567360 |
231 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs149004222 CA241420774 |
232 | Q>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs149004222 CA386090171 |
232 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386090147 rs1309941279 |
234 | I>L | No |
ClinGen gnomAD |
|
|
CA386090139 rs1444271214 |
234 | I>M | No |
ClinGen gnomAD |
|
|
rs778641448 CA6727880 |
235 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1293517038 CA386090111 |
236 | M>I | No |
ClinGen TOPMed |
|
|
rs1327938107 CA386090099 |
237 | F>Y | No |
ClinGen gnomAD |
|
|
CA386090080 rs1391049624 |
238 | N>S | No |
ClinGen gnomAD |
|
|
CA241419467 rs959751427 |
241 | C>R | No |
ClinGen Ensembl |
|
|
rs1200939507 CA386089896 |
241 | C>Y | No |
ClinGen gnomAD |
|
|
CA6727861 rs749072730 |
242 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1345057155 CA386089878 |
244 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs774782754 CA241419460 |
245 | V>A | No |
ClinGen Ensembl |
|
|
rs980386307 CA241419461 |
245 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6727860 rs777753953 |
246 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386089870 rs1432928628 |
246 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 247 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1470582656 CA386089840 |
250 | T>I | No |
ClinGen gnomAD |
|
|
rs1470582656 CA386089839 |
250 | T>N | No |
ClinGen gnomAD |
|
|
CA6727856 rs781190176 |
252 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482939830 CA386089832 |
252 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs758366056 CA6727855 |
254 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1257970099 CA386089804 |
256 | D>G | No |
ClinGen TOPMed |
|
|
CA6727853 rs765354935 |
258 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6727850 rs761043977 |
261 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs775795421 CA6727849 |
262 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 265 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773965130 CA6727846 |
268 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs368076455 CA6727845 |
272 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6727844 rs749017923 |
273 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 275 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777578144 CA6727843 |
276 | P>L | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386089680 rs1217779849 |
276 | P>S | No |
ClinGen gnomAD |
|
|
rs747983413 CA6727841 |
278 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780939685 CA6727840 |
279 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs779113747 CA6727837 |
280 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386089653 rs1172156834 |
280 | W>* | No |
ClinGen gnomAD |
|
|
CA6727838 rs772087310 |
280 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs75687221 CA6727835 |
281 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA386089649 rs140891326 |
281 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386089642 rs764306883 |
282 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1341680632 COSM3813246 CA386089644 |
282 | D>N | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs764306883 CA6727834 |
282 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA386089638 rs1241154771 |
283 | A>T | No |
ClinGen gnomAD |
|
|
CA386089632 rs1220609748 |
284 | K>E | No |
ClinGen TOPMed |
|
|
CA6727833 rs760988714 |
284 | K>I | No |
ClinGen ExAC |
|
| rs201094537 | 285 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs914123530 CA241417995 |
286 | V>A | No |
ClinGen TOPMed |
|
|
rs370178193 CA6727807 |
286 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6727806 rs776274627 |
288 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA386088983 rs1592846769 |
291 | G>R | No |
ClinGen Ensembl |
|
|
CA6727801 rs749348506 |
294 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727802 rs772019469 |
294 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777874877 CA6727800 |
295 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA386088887 rs1592846756 |
295 | V>I | No |
ClinGen Ensembl |
|
|
CA386088871 rs1461985308 |
296 | I>T | No |
ClinGen gnomAD |
|
|
rs926776145 CA241417935 |
299 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs530178312 CA241417217 |
304 | A>T | No |
ClinGen Ensembl |
|
|
rs780630764 CA6727772 |
305 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6727771 rs758958648 |
307 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs11108364 CA6727770 |
307 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs967108866 CA241417193 |
307 | N>S | No |
ClinGen TOPMed |
|
|
rs1383413458 CA386088111 |
308 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM380347 CA6727768 rs756750932 |
309 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6727765 rs760287096 |
311 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA386088089 rs1487809602 |
311 | M>T | No |
ClinGen TOPMed |
|
|
rs1249008750 CA386088092 |
311 | M>V | No |
ClinGen TOPMed |
|
|
rs1592845617 CA386088084 |
312 | I>V | No |
ClinGen Ensembl |
|
|
CA6727763 rs750732966 |
314 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 314 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6727762 rs759343594 |
315 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 317 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765616412 CA6727760 |
319 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA241417145 rs765616412 |
319 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs776612002 CA6727758 |
320 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6727759 rs761927800 |
320 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386088030 rs1592845564 |
321 | E>G | No |
ClinGen Ensembl |
|
|
RCV000211097 COSM1364995 rs34457757 CA6727756 |
322 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA241417098 rs34457757 |
322 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs121434330 CA6727755 |
322 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386088020 rs1435704887 |
323 | A>V | No |
ClinGen TOPMed |
|
|
CA6727753 rs141380705 |
325 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375314208 CA6727750 |
328 | R>Q | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369791382 CA6727751 |
328 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6727748 rs755752843 |
332 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6727749 rs777218012 |
332 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1287379554 CA386087957 |
333 | V>G | No |
ClinGen TOPMed |
|
|
rs889625949 CA241417067 |
334 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1306299257 CA386087952 |
334 | A>V | No |
ClinGen gnomAD |
|
|
CA6727746 rs767165342 |
335 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs752292458 CA6727747 |
335 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6727745 rs759273995 |
336 | L>P | No |
ClinGen ExAC |
|
|
rs766307661 CA6727743 |
338 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592845456 CA386087920 |
340 | V>G | No |
ClinGen Ensembl |
|
|
CA6727742 rs762862322 |
340 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233963971 CA386087904 |
343 | G>C | No |
ClinGen TOPMed |
|
|
rs1565990642 CA386087901 |
343 | G>V | No |
ClinGen Ensembl |
|
|
rs148685449 CA6727717 |
352 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1247568645 CA386087818 |
354 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs267603729 CA241416337 |
355 | L>F | No |
ClinGen gnomAD |
|
|
rs760789510 CA6727716 |
356 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386087807 rs1285322466 COSM1209280 |
356 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs569319488 CA6727715 |
359 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386087768 rs759745112 |
362 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727713 rs759745112 |
362 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386087771 rs1229224390 |
362 | I>V | No |
ClinGen TOPMed |
|
|
CA6727712 rs780828219 |
365 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1337150738 CA386087748 |
365 | A>V | No |
ClinGen gnomAD |
|
|
rs749672638 CA6727710 |
367 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771145104 COSM1364994 CA6727711 |
367 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA386087726 rs117991621 |
369 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1722022 rs952037997 CA241416290 |
369 | R>W | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA386087715 rs1165967541 |
371 | L>P | No |
ClinGen gnomAD |
|
|
CA386087707 rs1232509616 |
372 | L>F | No |
ClinGen TOPMed |
|
|
rs1473033412 CA386087705 |
373 | D>H | No |
ClinGen TOPMed |
|
|
CA241416287 rs552431512 |
376 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6727707 rs747622506 |
377 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727706 rs780744750 |
378 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6727705 rs754609438 |
379 | S>L | No |
ClinGen ExAC |
|
|
CA386087641 rs1427241859 |
382 | A>G | No |
ClinGen TOPMed |
|
|
rs1325369880 CA386087639 |
383 | E>K | No |
ClinGen gnomAD |
|
|
CA386087607 rs1230658396 |
385 | H>R | No |
ClinGen gnomAD |
|
|
rs1340088009 CA386087597 |
386 | R>S | No |
ClinGen gnomAD |
|
|
CA241416179 rs762592490 |
387 | F>L | No |
ClinGen Ensembl |
|
|
CA6727690 rs370321403 |
389 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367677601 COSM226283 CA6727689 |
390 | R>C | Variant assessed as Somatic; 0.0 impact. NS skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6727688 rs139643676 |
390 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139643676 CA386087572 |
390 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367677601 CA386087574 |
390 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6727685 COSM695329 rs779523127 |
391 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386087564 rs1404448394 |
392 | Q>* | No |
ClinGen TOPMed |
|
|
CA386087562 rs1221571650 |
392 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1330428970 CA386087555 |
393 | D>G | No |
ClinGen gnomAD |
|
|
COSM1513270 rs766606716 CA241416131 |
393 | D>N | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA6727683 rs745620441 |
394 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA6727681 rs757249428 |
396 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA386087537 rs1592844202 |
396 | T>P | No |
ClinGen Ensembl |
|
|
CA6727679 rs777860213 |
398 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727678 rs754976881 |
398 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs754976881 CA386087524 |
398 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA6727677 rs751687138 |
400 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs75370783 CA241416100 |
401 | P>T | No |
ClinGen Ensembl |
|
|
rs766475071 CA6727676 |
402 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA386087496 rs766475071 |
402 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1349471128 CA386087064 |
404 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386087052 rs1237471393 |
405 | G>D | No |
ClinGen TOPMed |
|
|
CA6727656 rs373930728 |
405 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1388041980 CA386087044 |
406 | V>M | No |
ClinGen gnomAD |
|
|
CA386087035 rs1364817398 |
407 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386087006 rs1156664668 |
409 | D>G | No |
ClinGen gnomAD |
|
|
rs1346814525 CA386087014 |
409 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA386087011 rs1346814525 |
409 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6727653 rs756130255 |
410 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177362718 CA386086968 |
412 | A>V | No |
ClinGen gnomAD |
|
|
CA241414978 rs901775799 |
414 | V>M | No |
ClinGen TOPMed |
|
|
CA386086935 rs1434997844 |
416 | N>S | No |
ClinGen gnomAD |
|
|
rs200953234 CA6727651 |
418 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6727650 rs780235089 |
419 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 420 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6727647 rs750576082 |
422 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1263397263 CA386086881 |
424 | S>I | No |
ClinGen gnomAD |
|
|
CA6727645 rs762115728 |
425 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754249504 CA6727644 |
427 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1382763887 CA386086857 |
428 | N>T | No |
ClinGen gnomAD |
|
|
rs764478010 CA6727643 |
429 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs376441270 CA241411403 |
431 | V>D | No |
ClinGen ESP TOPMed |
|
|
rs757510219 CA6727627 |
431 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1565987192 CA386086576 |
432 | F>Y | No |
ClinGen Ensembl |
|
|
rs754198163 CA386086552 |
435 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181093412 CA6727625 |
436 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386086550 rs1302441518 |
436 | G>R | No |
ClinGen gnomAD |
|
|
rs779946154 CA6727624 |
438 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA241411398 COSM161451 rs779946154 |
438 | T>K | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6727623 rs779946154 |
438 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs7297245 CA386086534 |
439 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs7297245 CA386086533 |
439 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 440 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449387256 CA386086514 |
442 | G>E | No |
ClinGen gnomAD |
|
|
CA386086512 rs1449387256 |
442 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs369283371 CA6727619 |
446 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6727618 rs762747975 |
447 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA386086457 rs1372652795 |
450 | A>V | No |
ClinGen Ensembl |
|
|
CA6727597 rs368169258 |
452 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368169258 CA6727598 |
452 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1261089260 CA386086436 |
452 | A>V | No |
ClinGen gnomAD |
|
|
CA6727596 rs768576625 |
453 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA386086428 rs1331451439 |
454 | D>A | No |
ClinGen gnomAD |
|
|
CA386086416 rs760663950 |
455 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1409318411 CA386086410 |
456 | L>F | No |
ClinGen gnomAD |
|
|
CA386086407 rs1331697524 |
457 | A>T | No |
ClinGen gnomAD |
|
|
rs775420602 CA6727594 |
458 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377299266 CA6727593 |
458 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000957104 rs142147961 CA6727592 |
460 | I>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386086381 rs148382360 |
461 | H>L | No |
ClinGen ESP gnomAD |
|
|
CA241411233 rs148382360 |
461 | H>R | No |
ClinGen ESP gnomAD |
|
|
rs748517649 CA6727589 |
463 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs748517649 CA386086369 |
463 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA386086358 rs1247879745 |
465 | A>S | No |
ClinGen gnomAD |
|
|
rs1247879745 CA386086357 |
465 | A>T | No |
ClinGen gnomAD |
|
|
rs1459751330 CA386086333 |
468 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs755402668 CA6727587 |
468 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA386086338 rs755402668 |
468 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1382147470 CA386086325 |
469 | R>S | No |
ClinGen TOPMed |
|
|
CA386086314 rs1248461466 |
471 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6727586 rs147706824 |
472 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6727582 rs764921636 |
473 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749943110 CA6727583 |
473 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1258675953 CA386086299 |
474 | L>F | No |
ClinGen TOPMed |
|
|
CA6727581 rs761431323 |
475 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 476 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs918016462 CA241411200 |
476 | N>S | No |
ClinGen Ensembl |
|
|
rs373644103 CA6727578 |
480 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386086242 rs1565986849 |
483 | P>S | No |
ClinGen Ensembl |
|
|
rs111999184 CA241411179 |
484 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 486 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6727574 rs763054054 |
488 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs773210134 CA6727573 |
488 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6727572 rs145495731 |
489 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1477677829 CA386086204 |
490 | G>S | No |
ClinGen gnomAD |
|
|
rs968525570 CA241411172 |
490 | G>V | No |
ClinGen Ensembl |
|
|
CA386086196 rs141635447 |
491 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 494 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386086158 rs1190376786 |
497 | M>K | No |
ClinGen gnomAD |
|
|
CA386086136 rs1463383489 |
500 | H>R | No |
ClinGen gnomAD |
|
|
rs1161802432 CA386086124 |
501 | C>* | No |
ClinGen TOPMed |
|
|
rs1450458185 CA386086129 |
501 | C>G | No |
ClinGen gnomAD |
|
|
CA386086120 rs781581441 |
502 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386086119 rs781581441 |
502 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6727570 rs781581441 |
502 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727568 rs370280919 |
507 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370280919 CA6727567 |
507 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386085746 rs1406892946 |
509 | E>K | No |
ClinGen gnomAD |
|
|
rs1411275160 CA386085726 |
510 | N>I | No |
ClinGen gnomAD |
|
|
CA6727542 rs190801813 |
510 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386085722 rs1231584134 |
511 | K>Q | No |
ClinGen gnomAD |
|
|
CA386085711 rs1252689842 |
512 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6727541 rs752472199 |
512 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386085714 rs752472199 |
512 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 514 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767277488 CA6727540 |
515 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6727539 rs754819630 |
517 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA241409949 rs754819630 |
517 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592837028 CA386085627 |
520 | D>A | No |
ClinGen Ensembl |
|
|
CA386085618 rs1423043557 |
521 | S>T | No |
ClinGen TOPMed |
|
|
CA6727534 rs764399347 |
523 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA386085597 rs1225121026 |
523 | S>P | No |
ClinGen Ensembl |
|
|
rs1592837011 CA386085592 |
524 | T>P | No |
ClinGen Ensembl |
|
|
CA6727531 rs772267203 |
526 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6727529 rs200270904 |
528 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386085549 rs1461158069 |
530 | D>A | No |
ClinGen gnomAD |
|
|
CA386085550 rs1461158069 |
530 | D>G | No |
ClinGen gnomAD |
|
|
CA386085540 rs185963433 |
531 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386085528 COSM223579 rs1223406544 |
533 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA386085532 rs1366161434 |
533 | S>P | No |
ClinGen TOPMed |
|
|
rs376202377 CA6727523 |
534 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751414671 CA6727521 |
538 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs779836173 CA6727520 |
539 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758470158 CA6727519 |
542 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758470158 CA386085474 |
542 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs970845360 CA241409880 |
544 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6727518 rs764203084 |
545 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA6727517 rs764203084 |
545 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA386085444 rs1565985317 |
547 | E>G | No |
ClinGen Ensembl |
|
|
CA6727515 rs752812366 |
547 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA386085434 rs1490180736 |
548 | H>L | No |
ClinGen TOPMed |
|
|
CA386085420 rs1390489238 |
550 | E>D | No |
ClinGen gnomAD |
|
|
rs1322809486 CA386085418 |
551 | Q>K | No |
ClinGen gnomAD |
|
|
CA386085395 rs1256449752 |
552 | V>A | No |
ClinGen gnomAD |
|
|
CA386085386 rs1449544733 |
554 | A>P | No |
ClinGen TOPMed |
|
|
CA6727482 rs376855010 |
556 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6727483 rs376855010 |
556 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262181257 CA386085358 |
558 | L>P | No |
ClinGen TOPMed |
|
|
CA6727481 rs748160771 COSM1188574 |
559 | A>P | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA386085356 rs748160771 |
559 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206134311 CA386085335 |
562 | Q>* | No |
ClinGen TOPMed |
|
|
rs781397723 CA6727480 |
562 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
CA6727478 rs751744158 |
564 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6727479 rs755013752 |
564 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs750837637 CA6727475 |
565 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA6727476 rs750837637 |
565 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs373688754 CA6727477 |
565 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs267603728 CA241409253 |
566 | F>I | No |
ClinGen Ensembl |
|
|
COSM198705 CA6727474 rs765722855 |
568 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA386085300 rs1313713197 |
568 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1174356774 CA386085293 |
569 | P>R | No |
ClinGen TOPMed |
|
|
rs1353708901 CA386085290 |
570 | L>M | No |
ClinGen gnomAD |
|
|
CA386085288 rs1565984557 |
570 | L>P | No |
ClinGen Ensembl |
|
|
rs369729855 CA6727471 |
571 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6727470 rs377025106 |
572 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6727469 rs760126003 |
573 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA241409218 rs938872732 |
575 | P>T | No |
ClinGen Ensembl |
|
|
rs745633929 CA6727466 |
577 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386085208 rs1166555509 |
578 | K>N | No |
ClinGen gnomAD |
|
|
CA386085205 rs1347307103 |
579 | V>F | No |
ClinGen TOPMed |
|
|
rs372889026 CA6727464 |
580 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770766724 CA6727463 |
581 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386085158 rs1249546927 |
583 | V>A | No |
ClinGen gnomAD |
|
|
CA386085157 rs1249546927 |
583 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 583 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6727461 rs777581036 COSM3688503 |
584 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6727459 rs148214250 |
584 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6727460 rs148214250 |
584 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386085143 rs201632329 |
585 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs936544440 CA241409194 |
586 | V>I | No |
ClinGen Ensembl |
|
|
rs750784487 CA6727456 |
588 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6727431 rs759128429 |
588 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA6727430 rs751205054 |
589 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1379318826 CA386085018 |
591 | I>M | No |
ClinGen gnomAD |
|
|
rs765975276 CA6727429 |
591 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762791469 CA386085002 |
593 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727428 rs762791469 |
593 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6727427 rs772942279 |
593 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA241409041 rs925778606 |
594 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6727426 rs781008673 |
594 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386084947 rs1282377693 |
596 | M>I | No |
ClinGen gnomAD |
|
|
CA386084951 rs1466404869 |
596 | M>T | No |
ClinGen gnomAD |
|
|
rs772092954 CA6727423 |
597 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6727422 rs745978914 |
598 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs759881725 CA6727419 |
600 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759881725 CA386084904 |
600 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM74860 CA386084892 rs377498665 |
601 | E>Q | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA386084869 rs1220914394 |
602 | A>V | No |
ClinGen TOPMed |
|
|
rs116249246 CA6727415 |
603 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1044862620 CA241409013 |
604 | H>R | No |
ClinGen Ensembl |
|
|
CA6727413 rs373201605 |
605 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1248734701 CA386084800 |
610 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs369621967 CA6727411 |
611 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6727412 rs766045725 |
611 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6727384 rs142634377 |
614 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386084444 rs142634377 |
614 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1336448892 CA386084429 |
615 | V>I | No |
ClinGen gnomAD |
|
|
rs1291013772 CA386084397 |
616 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA386084393 rs1291013772 |
616 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6727383 rs773263806 |
619 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA241408029 rs904292772 |
620 | I>N | No |
ClinGen Ensembl |
|
|
rs369075607 CA241408045 |
620 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA6727379 rs777205930 |
623 | Y>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 623 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359301312 CA386084225 |
625 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs769152394 CA6727378 |
626 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs780634001 CA6727376 |
627 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780634001 CA6727377 |
627 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727375 rs757807781 |
628 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474922801 CA386084130 |
629 | P>R | No |
ClinGen gnomAD |
|
|
CA6727373 rs778515949 |
630 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA241407985 rs773761824 |
633 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1232702931 CA386083949 |
639 | F>V | No |
ClinGen gnomAD |
|
|
rs1565983190 CA386083923 |
640 | S>L | No |
ClinGen Ensembl |
|
|
rs1391324825 CA386083908 |
641 | L>V | No |
ClinGen TOPMed |
|
|
rs1314011240 CA386083853 |
644 | L>M | No |
ClinGen TOPMed |
|
|
rs753623981 CA6727371 |
645 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6727370 rs574414004 |
646 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA241407957 rs1031038163 |
648 | S>F | No |
ClinGen TOPMed |
|
|
rs1308496340 CA386083756 |
649 | T>A | No |
ClinGen gnomAD |
|
|
CA6727369 rs755949907 |
650 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200780494 CA6727368 |
651 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1579560 CA241407941 rs901383469 |
652 | P>L | haematopoietic_and_lymphoid_tissue breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs865904307 COSM3782774 CA241407947 |
652 | P>S | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1012465644 CA241407938 |
653 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1404895007 CA386083679 |
653 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA386083672 rs762907413 |
654 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727366 rs762907413 |
654 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386083642 rs750562351 |
656 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6727365 rs750562351 |
656 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389533435 CA386083626 |
657 | L>F | No |
ClinGen gnomAD |
|
|
rs138504011 CA6727364 |
657 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
1 associated diseases with P42357
[MIM: 235800]: Histidinemia (HISTID)
Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids. {ECO:0000269|PubMed:15806399}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids. {ECO:0000269|PubMed:15806399}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P42357
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| active_site | Phenylalanine/histidine ammonia-lyases, active site | 249 - 265 | IPR022313 |
Functions
| Description | ||
|---|---|---|
| EC Number | 4.3.1.3 | Ammonia-lyases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ammonia-lyase activity | Catalysis of the release of ammonia by the cleavage of a carbon-nitrogen bond or the reverse reaction with ammonia as a substrate. |
| histidine ammonia-lyase activity | Catalysis of the reaction: L-histidine = urocanate + NH3. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| histidine catabolic process | The chemical reactions and pathways resulting in the breakdown of histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid. |
| histidine catabolic process to glutamate and formamide | The chemical reactions and pathways resulting in the breakdown of histidine into other compounds, including glutamate and formamide. |
| histidine catabolic process to glutamate and formate | The chemical reactions and pathways resulting in the breakdown of histidine into other compounds, including glutamate and formate. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P45735 | PAL | Phenylalanine ammonia-lyase | Vitis vinifera (Grape) | PR |
| Q8VXG7 | PAL1 | Phenylalanine/tyrosine ammonia-lyase | Zea mays (Maize) | PR |
| P35492 | Hal | Histidine ammonia-lyase | Mus musculus (Mouse) | PR |
| P31425 | PAL-1 | Phenylalanine ammonia-lyase 1 | Solanum tuberosum (Potato) | PR |
| P31426 | PAL-2 | Phenylalanine ammonia-lyase 2 | Solanum tuberosum (Potato) | PR |
| P14717 | PAL | Phenylalanine ammonia-lyase | Oryza sativa subsp japonica (Rice) | PR |
| Q0DZE0 | ZB8 | Phenylalanine ammonia-lyase | Oryza sativa subsp japonica (Rice) | PR |
| P26600 | PAL5 | Phenylalanine ammonia-lyase | Solanum lycopersicum (Tomato) (Lycopersicon esculentum) | PR |
| P35511 | PAL | Phenylalanine ammonia-lyase | Solanum lycopersicum (Tomato) (Lycopersicon esculentum) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPRYTVHVRG | EWLAVPCQDA | QLTVGWLGRE | AVRRYIKNKP | DNGGFTSVDD | AHFLVRRCKG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LGLLDNEDRL | EVALENNEFV | EVVIEGDAMS | PDFIPSQPEG | VYLYSKYREP | EKYIELDGDR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LTTEDLVNLG | KGRYKIKLTP | TAEKRVQKSR | EVIDSIIKEK | TVVYGITTGF | GKFARTVIPI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NKLQELQVNL | VRSHSSGVGK | PLSPERCRML | LALRINVLAK | GYSGISLETL | KQVIEMFNAS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CLPYVPEKGT | VGASGDLAPL | SHLALGLVGE | GKMWSPKSGW | ADAKYVLEAH | GLKPVILKPK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EGLALINGTQ | MITSLGCEAV | ERASAIARQA | DIVAALTLEV | LKGTTKAFDT | DIHALRPHRG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QIEVAFRFRS | LLDSDHHPSE | IAESHRFCDR | VQDAYTLRCC | PQVHGVVNDT | IAFVKNIITT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ELNSATDNPM | VFANRGETVS | GGNFHGEYPA | KALDYLAIGI | HELAAISERR | IERLCNPSLS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ELPAFLVAEG | GLNSGFMIAH | CTAAALVSEN | KALCHPSSVD | SLSTSAATED | HVSMGGWAAR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KALRVIEHVE | QVLAIELLAA | CQGIEFLRPL | KTTTPLEKVY | DLVRSVVRPW | IKDRFMAPDI |
| 610 | 620 | 630 | 640 | 650 | |
| EAAHRLLLEQ | KVWEVAAPYI | EKYRMEHIPE | SRPLSPTAFS | LQFLHKKSTK | IPESEDL |