Q9NP58
PR
Gene name |
ABCB6 |
Protein name |
ATP-binding cassette sub-family B member 6 |
Names |
ABC-type heme transporter ABCB6, Mitochondrial ABC transporter 3, Mt-ABC transporter 3, P-glycoprotein-related protein, Ubiquitously-expressed mammalian ABC half transporter |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10058 |
EC number |
7.6.2.5: Linked to the hydrolysis of a nucleoside triphosphate |
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
14 structures for Q9NP58
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3NH6 | X-ray | 200 A | A | 558-842 | PDB |
| 3NH9 | X-ray | 210 A | A | 558-842 | PDB |
| 3NHA | X-ray | 210 A | A | 558-842 | PDB |
| 3NHB | X-ray | 215 A | A | 558-842 | PDB |
| 7D7N | EM | 520 A | A/B | 1-842 | PDB |
| 7D7R | EM | 400 A | A/B | 1-842 | PDB |
| 7DNY | EM | 340 A | A/B | 1-842 | PDB |
| 7DNZ | EM | 360 A | A/B | 1-842 | PDB |
| 7EKL | EM | 350 A | A/B | 1-842 | PDB |
| 7EKM | EM | 360 A | A/B | 1-842 | PDB |
| 8FWK | EM | 350 A | A/B | 1-842 | PDB |
| 8K7B | EM | 390 A | A/B | 238-827 | PDB |
| 8K7C | EM | 390 A | A/B | 240-826 | PDB |
| AF-Q9NP58-F1 | Predicted | AlphaFoldDB |
838 variants for Q9NP58
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_067394 RCV000023440 RCV002513189 rs387906911 CA129262 RCV002247384 |
57 | A>T | Microphthalmia, isolated, with coloboma 7 (mcopcb7) Microphthalmia, isolated, with coloboma 7 MCOPCB7; unknown pathological significance; hypomorphic mutation [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA144712 VAR_070602 rs397514757 RCV000054817 |
170 | S>G | Dyschromatosis universalis hereditaria 3 DUH3; the protein is retained in the Golgi apparatus [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001731357 RCV001731356 rs150221689 CA145194 VAR_084494 RCV001699031 RCV001731358 RCV000059344 |
192 | R>Q | Acute intermittent porphyria Variegate porphyria Protoporphyria, erythropoietic, 1 Microphthalmia, isolated, with coloboma 7 decrease expression; does not affect susbtrate binding; does not affect ATP-binding; loss of plasma membrane expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001731433 RCV001731431 CA210364 RCV001731521 RCV001699005 RCV000201942 RCV001731432 rs149202834 |
192 | R>W | Hereditary coproporphyria Acute intermittent porphyria Variegate porphyria Protoporphyria, erythropoietic, 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000948628 RCV001731987 RCV001731986 CA2119653 rs190528998 |
247 | R>C | Acute intermittent porphyria Protoporphyria, erythropoietic, 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001731534 rs57467915 RCV000224725 RCV001731453 VAR_084495 RCV001731454 CA2119636 RCV001731535 |
276 | R>W | Hereditary coproporphyria Acute intermittent porphyria Variegate porphyria Protoporphyria, erythropoietic, 1 may be a modifier of disease severity in porphyria patients; loss of expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA350639903 VAR_073973 rs1574815954 |
322 | S>R | DUH3 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA144711 RCV000054816 VAR_070603 rs397514756 |
356 | L>P | Dyschromatosis universalis hereditaria 3 DUH3; the protein is retained in the Golgi apparatus [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs754667801 RCV000202403 CA212650 VAR_071133 |
375 | R>Q | Familial pseudohyperkalemia PSHK2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP |
|
CA212651 RCV000202404 RCV002500635 rs764893806 VAR_071134 |
375 | R>W | Familial pseudohyperkalemia Variant assessed as Somatic; 0.0 impact. PSHK2 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
| VAR_073974 | 424 | Y>H | DUH3 [UniProt] | Yes | UniProt |
| VAR_071135 | 453 | A>V | DUH3 [UniProt] | Yes | UniProt |
|
RCV002489302 RCV000950647 CA2119442 rs61733629 |
454 | V>A | Familial pseudohyperkalemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_084497 rs149363094 RCV001731736 RCV001731737 RCV001731738 RCV001731739 RCV001700138 CA2119337 RCV000514468 |
521 | T>S | Hereditary coproporphyria Acute intermittent porphyria Variegate porphyria Protoporphyria, erythropoietic, 1 may be a modifier of disease severity in porphyria patients; loss of expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs796065353 RCV000190414 VAR_071136 CA204405 |
555 | Q>K | Dyschromatosis universalis hereditaria 3 DUH3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000054818 CA144713 VAR_070604 rs397514758 |
579 | G>E | Dyschromatosis universalis hereditaria 3 DUH3; the protein is retained in the Golgi apparatus. Does not affect subcellular location in early melanosome and lysosome. Does not rescue the normal amyloid fibril formation and normal maturation of pigmented melanosomes. Does not influence trafficking of melanosomal proteins. [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001171505 CA350684908 rs1377097612 |
667 | G>A | Microphthalmia, isolated, with coloboma 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000202405 RCV002247627 CA212652 VAR_076206 RCV001853258 rs148211042 |
723 | R>Q | Familial pseudohyperkalemia PSHK2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA129261 RCV000023439 rs387906910 VAR_067395 |
811 | L>V | Microphthalmia, isolated, with coloboma 7 (mcopcb7) Microphthalmia, isolated, with coloboma 7 MCOPCB7; hypomorphic mutation [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA2119848 rs369955643 |
2 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186367319 CA350646283 |
3 | T>A | No |
ClinGen gnomAD |
|
|
rs1286332062 CA350646268 |
3 | T>I | No |
ClinGen gnomAD |
|
|
CA2119847 rs781766683 |
5 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185042108 CA350646221 |
6 | N>H | No |
ClinGen TOPMed |
|
|
rs1401023454 CA350646180 |
7 | Y>C | No |
ClinGen gnomAD |
|
|
rs770292651 CA2119846 |
7 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA350646091 rs1159310240 |
9 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 11 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410425747 CA350646030 |
12 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1458320839 CA350646038 |
12 | G>R | No |
ClinGen gnomAD |
|
|
CA350646034 rs1458320839 |
12 | G>W | No |
ClinGen gnomAD |
|
|
rs777248473 CA2119843 |
13 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs941836634 CA65953888 |
13 | P>T | No |
ClinGen Ensembl |
|
|
CA350645992 rs1264583426 |
14 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA65953883 rs926751780 |
14 | V>L | No |
ClinGen TOPMed |
|
|
CA2119841 rs752392409 |
16 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs778661074 CA2119840 |
17 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119838 rs753708477 |
18 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA2119836 rs761748260 |
23 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764130606 CA2119834 |
25 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs751629886 CA2119835 |
25 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2119833 rs763255664 |
27 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350645711 rs1385715955 |
28 | F>S | No |
ClinGen gnomAD |
|
|
CA350645686 rs1358783169 |
29 | F>L | No |
ClinGen TOPMed |
|
|
CA350645696 rs1332510577 |
29 | F>V | No |
ClinGen TOPMed |
|
|
CA350645677 rs1281677761 |
30 | T>A | No |
ClinGen TOPMed |
|
|
rs1416556588 CA350645668 |
30 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1472648713 CA350645663 |
31 | L>P | No |
ClinGen gnomAD |
|
|
rs776958079 CA2119828 |
32 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1463709693 CA350645651 |
33 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2119827 rs771503188 |
34 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65953785 rs977860215 |
36 | R>Q | No |
ClinGen TOPMed |
|
|
CA65953781 rs967476125 |
38 | A>T | No |
ClinGen Ensembl |
|
|
CA350645565 rs1559239755 |
39 | L>P | No |
ClinGen Ensembl |
|
|
CA2119824 rs771624686 |
39 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1206121593 CA350645539 |
41 | T>I | No |
ClinGen TOPMed |
|
|
rs1206121593 CA350645535 |
41 | T>S | No |
ClinGen TOPMed |
|
|
rs1438779900 CA350645520 |
42 | L>Q | No |
ClinGen TOPMed |
|
|
CA350645512 rs1358386848 |
43 | A>D | No |
ClinGen gnomAD |
|
|
rs778542081 CA2119822 |
43 | A>S | No |
ClinGen ExAC |
|
| TCGA novel | 45 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230242898 CA350645459 |
47 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1334030514 CA350645466 |
47 | A>T | No |
ClinGen gnomAD |
|
|
rs1230242898 CA350645460 |
47 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2119820 rs753653762 |
48 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951068944 CA65953746 |
49 | P>L | No |
ClinGen TOPMed |
|
|
CA350645439 rs1383400069 |
49 | P>S | No |
ClinGen gnomAD |
|
|
CA350645429 rs1269122346 |
50 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 50 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350645397 rs1170864238 |
52 | R>H | No |
ClinGen TOPMed |
|
|
CA350645388 rs1322088559 |
53 | R>Q | No |
ClinGen gnomAD |
|
|
CA65953738 rs958830633 |
53 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs750386138 CA2119818 |
54 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119816 rs764230425 |
55 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1170865342 CA350645362 |
55 | R>P | No |
ClinGen gnomAD |
|
|
rs1191876345 CA350645337 |
57 | A>G | No |
ClinGen gnomAD |
|
|
CA2119814 rs765581305 |
58 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA350645284 rs777020402 |
61 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA350645289 rs1373787315 |
61 | S>A | No |
ClinGen TOPMed |
|
|
CA2119812 rs777020402 |
61 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA350645264 rs1275156036 |
63 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA350645262 rs1275156036 |
63 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs749367669 CA2119810 |
64 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771247081 CA2119811 |
64 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1369017464 CA350645239 |
65 | G>E | No |
ClinGen gnomAD |
|
|
CA350645245 rs1219322079 |
65 | G>R | No |
ClinGen gnomAD |
|
|
rs773656026 CA2119809 |
66 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs973965473 CA65953681 |
66 | A>V | No |
ClinGen TOPMed |
|
|
CA350645213 rs1351620534 |
67 | G>D | No |
ClinGen gnomAD |
|
|
rs777887514 CA2119807 |
68 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA350645198 rs1428173696 |
68 | P>L | No |
ClinGen gnomAD |
|
|
rs1428173696 CA350645202 |
68 | P>R | No |
ClinGen gnomAD |
|
|
CA2119806 rs747669898 |
69 | R>C | No |
ClinGen ExAC gnomAD |
|
| VAR_035732 | 69 | R>G | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs1416242027 CA350645188 |
69 | R>L | No |
ClinGen gnomAD |
|
|
CA2119804 rs768326919 |
70 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs748943598 CA2119803 |
71 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350645152 rs1184109749 |
72 | P>L | No |
ClinGen gnomAD |
|
|
rs1252401601 CA350645158 |
72 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200690459 CA2119800 CA2119799 |
73 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350645141 rs755929824 |
73 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755929824 CA2119801 |
73 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275954442 CA350645104 |
76 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1275954442 CA350645105 |
76 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752858714 CA2119797 |
77 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 80 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1261160843 CA350645038 |
82 | L>F | No |
ClinGen gnomAD |
|
|
rs755226673 CA2119795 |
83 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303783049 CA350644989 |
84 | A>E | No |
ClinGen gnomAD |
|
|
CA350644983 rs1303783049 |
84 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 85 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2119794 rs754062529 |
85 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2119793 rs766757551 |
87 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs963875602 CA65953572 |
87 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 88 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760948546 CA2119792 |
88 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374837602 CA2119790 |
92 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2119789 rs374837602 |
92 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350644869 rs1182211625 |
93 | G>S | No |
ClinGen gnomAD |
|
|
rs1235347072 CA350644861 |
94 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1574819489 CA350644846 |
95 | V>G | No |
ClinGen Ensembl |
|
|
CA350644850 rs1464909700 |
95 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2119783 rs745676016 |
97 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs781238305 CA2119782 |
97 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2119781 rs757233071 |
98 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA350644798 rs1435916959 |
99 | R>Q | No |
ClinGen gnomAD |
|
|
rs779120164 CA2119779 |
99 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs768732686 | 101 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2119776 rs537948163 |
101 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA350644774 rs754021088 |
101 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs768732686 | 101 | A>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2119777 rs754021088 |
101 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754021088 CA2119778 |
101 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119774 rs756451373 |
102 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119772 rs750783070 |
103 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350644703 rs1425282625 |
105 | S>G | No |
ClinGen gnomAD |
|
|
rs377474593 CA65953439 |
106 | Y>C | No |
ClinGen gnomAD |
|
|
CA350644683 rs1383017673 |
106 | Y>D | No |
ClinGen gnomAD |
|
|
CA350644631 rs1202828790 |
109 | L>M | No |
ClinGen gnomAD |
|
|
rs1456712156 CA350644617 |
110 | A>T | No |
ClinGen TOPMed |
|
|
CA2119770 rs762295719 |
112 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2119768 rs200651419 |
114 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2119769 rs200651419 |
114 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762384024 CA350644533 |
115 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119767 rs762384024 |
115 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350644510 rs1367595494 |
116 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs775163137 CA2119765 |
117 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs866325833 CA65953406 |
118 | G>C | No |
ClinGen Ensembl |
|
|
CA65953399 rs868598280 |
119 | A>S | No |
ClinGen Ensembl |
|
|
rs949536000 CA65953396 |
120 | C>S | No |
ClinGen TOPMed |
|
|
rs914586011 CA65953366 |
121 | G>D | No |
ClinGen gnomAD |
|
|
rs946009139 CA65953388 |
121 | G>S | No |
ClinGen Ensembl |
|
|
CA350644449 rs914586011 |
121 | G>V | No |
ClinGen gnomAD |
|
|
rs373249069 CA65953355 |
125 | L>F | No |
ClinGen ESP |
|
|
rs1293978481 CA350644380 |
126 | V>F | No |
ClinGen gnomAD |
|
|
CA2119760 rs376652268 |
129 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA65953315 rs919566405 |
130 | S>N | No |
ClinGen TOPMed |
|
|
CA2119757 rs746936800 |
133 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA350644211 rs746936800 |
133 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA350644214 rs746936800 |
133 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1559239305 CA350644206 |
134 | Q>* | No |
ClinGen Ensembl |
|
|
CA350644192 rs1268675308 |
134 | Q>R | No |
ClinGen gnomAD |
|
|
CA350644164 rs1489999228 |
135 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA350644158 rs1489999228 |
135 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs202232534 CA2119756 |
135 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA65953293 rs958821029 |
138 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs201622894 CA2119755 |
138 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA65953292 rs1034470038 |
139 | G>D | No |
ClinGen Ensembl |
|
|
rs749349226 CA2119754 |
140 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 140 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350644006 rs1331682948 |
142 | I>F | No |
ClinGen gnomAD |
|
|
CA2119753 rs200627950 |
144 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350643941 rs1388502529 |
146 | H>D | No |
ClinGen gnomAD |
|
|
CA2119751 rs373356466 |
147 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350643908 rs372123353 |
147 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350643903 rs1430120477 |
148 | P>A | No |
ClinGen gnomAD |
|
|
rs757622992 CA2119749 |
148 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs764535130 CA2119747 |
149 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119746 rs762489182 |
150 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs527947682 CA2119745 |
151 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755723161 RCV002246930 |
154 | W>missing | No |
ClinVar dbSNP |
|
|
rs1304273523 CA350643829 |
154 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 156 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350643817 rs1399568726 |
156 | V>M | No |
ClinGen TOPMed |
|
|
rs141131080 CA2119741 |
157 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2119740 rs770778334 |
161 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143052685 CA2119739 |
164 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2119738 rs373388390 |
168 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1282503470 CA350643578 |
172 | Q>H | No |
ClinGen gnomAD |
|
|
CA2119736 rs1553561306 |
173 | W>L | No |
ClinGen Ensembl |
|
|
rs1410216292 CA350643518 |
176 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs771934059 CA2119735 |
176 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA350643507 rs1251001180 |
177 | R>S | No |
ClinGen gnomAD |
|
|
rs1258030681 CA350643484 |
179 | D>G | No |
ClinGen TOPMed |
|
|
CA65953169 rs1005972438 |
181 | G>D | No |
ClinGen TOPMed |
|
|
CA350643449 rs1326592920 |
181 | G>S | No |
ClinGen gnomAD |
|
|
rs551637880 CA350643395 |
183 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350643407 rs1200041811 |
183 | Q>P | No |
ClinGen TOPMed |
|
|
rs1204348484 CA350643296 |
184 | V>A | No |
ClinGen gnomAD |
|
|
rs747284916 CA2119710 |
186 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA350643278 rs1349442005 |
187 | S>R | No |
ClinGen gnomAD |
|
|
rs758860238 CA2119708 |
189 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA65952809 rs989043360 |
191 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs754485910 CA2119707 |
195 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs753428734 CA2119706 |
196 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350643217 rs1162033830 |
197 | G>E | No |
ClinGen gnomAD |
|
|
CA2119705 rs372279035 |
197 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA65952801 rs868142596 |
198 | G>V | No |
ClinGen Ensembl |
|
| TCGA novel | 199 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424308855 CA350643207 |
199 | L>P | No |
ClinGen gnomAD |
|
|
CA350643198 rs1378041883 |
200 | F>L | No |
ClinGen gnomAD |
|
|
rs1028723900 CA65952796 |
203 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1028723900 CA350643183 |
203 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1474436688 CA350643176 |
204 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs997273505 CA65952785 |
207 | P>R | No |
ClinGen Ensembl |
|
|
CA2119701 rs369819169 |
208 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147046586 CA2119700 |
210 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2119699 rs552667888 |
210 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2119696 rs771060684 |
213 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1269067056 CA350643117 |
214 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA350643113 rs1450419727 |
215 | T>A | No |
ClinGen TOPMed |
|
|
rs747231580 CA2119695 |
217 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119694 rs773484755 |
217 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312095842 CA350643093 |
218 | V>I | No |
ClinGen TOPMed |
|
|
rs142256852 CA2119693 |
220 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142256852 CA2119692 |
220 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755509778 CA2119690 |
221 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs779244570 CA2119691 |
221 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA350643059 rs1353913011 |
223 | Q>K | No |
ClinGen Ensembl |
|
|
CA65952734 rs201424087 |
225 | V>M | No |
ClinGen gnomAD |
|
|
CA350643031 rs1183721439 |
227 | R>G | No |
ClinGen gnomAD |
|
|
rs1173209914 CA350643027 |
227 | R>K | No |
ClinGen gnomAD |
|
|
rs1278660161 CA350643021 |
228 | S>N | No |
ClinGen TOPMed |
|
|
CA2119688 rs113201298 |
228 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1574817922 CA350643013 |
229 | Q>R | No |
ClinGen Ensembl |
|
|
CA2119661 rs553574357 |
231 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745417208 CA2119662 |
231 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA350641507 rs1454653292 |
233 | A>T | No |
ClinGen gnomAD |
|
|
CA350641444 rs1312320857 |
236 | Q>R | No |
ClinGen gnomAD |
|
|
rs973355260 CA65952124 |
238 | T>A | No |
ClinGen TOPMed |
|
|
rs148458820 RCV000023434 CA2119657 |
239 | W>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs766607263 CA2119656 |
240 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766607263 CA350641375 |
240 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535561406 CA2119655 |
240 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA350641327 rs1287477756 |
242 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 246 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2119652 rs750482643 |
247 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350641231 rs1446072442 |
248 | L>F | No |
ClinGen gnomAD |
|
|
CA2119651 rs767541137 |
249 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65952101 rs11538186 |
250 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA350641206 rs11538186 |
250 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA350641160 rs774781675 CA2119649 |
252 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65952071 rs868455729 |
254 | W>C | No |
ClinGen Ensembl |
|
|
CA350641106 rs1316630944 |
255 | P>R | No |
ClinGen gnomAD |
|
|
rs145489859 CA2119648 |
256 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs72955421 CA350641095 |
256 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs72955421 CA2119647 |
256 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1380818607 CA350641053 |
259 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs776102645 CA2119646 |
259 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380818607 CA350641048 |
259 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA350641033 rs1435842228 |
260 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA350641031 rs1435842228 |
260 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA350641035 rs1435842228 |
260 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA350640986 rs1290495042 |
262 | Q>R | No |
ClinGen gnomAD |
|
|
rs370961583 CA2119643 |
263 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1476132117 CA2119640 |
264 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs746608536 CA2119639 |
265 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746608536 CA350640941 |
265 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65952038 rs941444226 |
266 | L>F | No |
ClinGen Ensembl |
|
|
rs777412078 CA2119638 |
267 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA350640906 rs777412078 |
267 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA350640896 rs1182464000 |
267 | I>T | No |
ClinGen gnomAD |
|
|
rs1264483952 CA350640876 |
268 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA350640873 rs1559238273 |
268 | C>W | No |
ClinGen Ensembl |
|
|
CA350640853 rs1185355342 |
270 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA350640829 rs1485818631 |
271 | L>F | No |
ClinGen gnomAD |
|
|
rs1225134091 CA350640783 |
273 | G>D | No |
ClinGen gnomAD |
|
|
CA2119635 rs200125320 |
276 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65951975 rs185608106 |
279 | N>K | No |
ClinGen 1000Genomes TOPMed |
|
|
rs754919449 CA2119633 |
279 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350640668 rs1574816398 |
280 | V>L | No |
ClinGen Ensembl |
|
|
rs112100706 CA65951973 |
281 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 283 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350640613 rs1361151982 |
283 | P>L | No |
ClinGen gnomAD |
|
|
rs374142138 CA2119632 |
283 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350640608 rs1180371763 |
284 | I>V | No |
ClinGen TOPMed |
|
|
CA350640584 rs1303564172 |
285 | F>C | No |
ClinGen gnomAD |
|
|
rs767630350 CA350640564 |
286 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1406487740 CA350640573 |
286 | Y>C | No |
ClinGen gnomAD |
|
|
CA350640553 rs1574816354 |
287 | R>S | No |
ClinGen Ensembl |
|
|
CA2119630 rs757287403 |
289 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs753038712 CA2119609 |
291 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_047552 CA65951754 rs13018440 |
293 | L>V | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs1014601363 CA65951747 |
294 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 296 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA65951746 rs897121167 |
297 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1390458638 CA350640302 |
298 | P>L | No |
ClinGen gnomAD |
|
|
CA65951740 rs1016049514 |
299 | W>* | No |
ClinGen Ensembl |
|
|
CA350640290 rs1231684151 |
299 | W>S | No |
ClinGen Ensembl |
|
|
CA65951732 rs13018427 |
300 | N>K | No |
ClinGen Ensembl |
|
|
CA350640242 rs1338702601 |
301 | S>F | No |
ClinGen TOPMed |
|
|
rs113159519 CA2119606 |
302 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs13018426 CA65951724 |
303 | A>G | No |
ClinGen Ensembl |
|
|
CA350640208 rs1490856072 |
304 | W>* | No |
ClinGen TOPMed |
|
|
rs761207708 CA2119604 |
304 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA2119605 rs766823460 |
304 | W>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2119603 rs772684700 |
305 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2119602 rs553860284 |
306 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139745068 CA350640138 |
307 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2119600 rs139745068 |
307 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770921703 CA2119596 |
309 | Y>* | No |
ClinGen ExAC TOPMed |
|
|
CA65951664 rs13018099 |
310 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs13018099 CA501102 |
310 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119595 rs13018099 |
310 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350640047 rs1459948961 |
312 | L>F | No |
ClinGen gnomAD |
|
|
rs148352072 CA2119594 |
313 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752910770 CA2119592 |
313 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs777998867 CA2119593 |
313 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779029356 CA2119590 |
315 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA350639982 rs1239045862 |
317 | G>E | No |
ClinGen gnomAD |
|
|
rs932780824 CA65951617 |
317 | G>R | No |
ClinGen TOPMed |
|
|
CA65951609 rs932780824 |
317 | G>W | No |
ClinGen TOPMed |
|
|
CA350639975 rs1383033311 |
318 | G>C | No |
ClinGen TOPMed gnomAD |
|
| rs777439793 | 318 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350639943 rs1215929990 |
319 | G>V | No |
ClinGen gnomAD |
|
|
rs1574815966 CA350639939 |
320 | T>S | No |
ClinGen Ensembl |
|
|
rs1340408709 CA350639923 |
321 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2119585 rs754117442 |
323 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350639807 rs762348452 |
324 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs762348452 CA2119562 |
324 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA350639784 rs1338041879 |
326 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1278059211 CA350639759 |
327 | S>N | No |
ClinGen gnomAD |
|
|
rs1224657529 CA350639741 |
328 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA350639743 rs1224657529 |
328 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1553561035 CA2119557 |
329 | L>P | No |
ClinGen Ensembl |
|
|
CA2119560 rs546763283 |
329 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 330 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1436080788 CA350639708 |
330 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA350639702 rs1574815663 |
331 | T>P | No |
ClinGen Ensembl |
|
|
CA2119555 rs138423826 |
332 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769658039 CA350639639 |
335 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs769658039 CA2119554 |
335 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2119553 rs776674652 |
336 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770956204 CA2119551 |
336 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119552 rs776674652 |
336 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480713404 CA350639631 |
337 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350639632 rs1480713404 |
337 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA350639624 rs1196977128 |
338 | Q>* | No |
ClinGen gnomAD |
|
|
rs1335429025 CA350639554 |
341 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA350639539 rs1234150235 |
342 | S>F | No |
ClinGen TOPMed |
|
|
VAR_060986 CA2119546 rs60322991 |
343 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2119547 rs749402390 |
343 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756421484 CA2119545 |
344 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256856094 CA350639511 |
344 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2119543 rs781586277 |
345 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1218961106 CA350639481 |
346 | E>* | No |
ClinGen gnomAD |
|
|
rs1025090164 CA65951291 |
346 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 347 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757693355 CA2119542 |
348 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2119540 rs763447942 |
349 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2119539 rs200375678 |
350 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 350 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2119537 rs1553561013 |
351 | S>F | No |
ClinGen Ensembl |
|
|
CA350639399 rs1481355054 |
351 | S>P | No |
ClinGen TOPMed |
|
|
rs1173719567 CA350639375 |
352 | H>P | No |
ClinGen gnomAD |
|
|
rs752352053 CA2119536 |
352 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119535 rs759298812 |
354 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119533 rs776541657 |
355 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA350639349 rs776541657 |
355 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350639307 rs1171358883 |
358 | L>P | No |
ClinGen TOPMed |
|
|
CA2119531 rs151194178 |
358 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1195119096 CA350639298 |
359 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2119530 rs773204210 |
359 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs768559398 CA2119529 |
360 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA350639262 rs1460369200 |
361 | H>Q | No |
ClinGen TOPMed |
|
|
CA350639243 rs763376116 |
363 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119527 rs763376116 |
363 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350639249 rs1209867052 |
363 | G>R | No |
ClinGen gnomAD |
|
|
rs769981173 CA2119526 |
364 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746147116 CA2119525 |
364 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs769981173 CA350639238 |
364 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350639224 rs1315856485 |
365 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2119524 rs200246711 |
365 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA350639217 rs200246711 |
365 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384923001 CA350639201 |
366 | T>I | No |
ClinGen gnomAD |
|
|
rs1345620573 CA350639167 |
369 | V>M | No |
ClinGen gnomAD |
|
|
rs199906854 CA2119523 |
371 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350639141 rs1417519007 |
371 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA65951177 rs375619080 |
372 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000239437 rs765925019 |
373 | A>missing | No |
ClinVar dbSNP |
|
|
CA350639104 rs1445854518 |
373 | A>S | No |
ClinGen gnomAD |
|
|
CA350639107 rs1445854518 |
373 | A>T | No |
ClinGen gnomAD |
|
|
CA2119521 rs773712027 |
373 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA350639092 rs1195287693 |
374 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1486465002 CA350639084 |
374 | D>V | No |
ClinGen gnomAD |
|
|
CA350639046 rs1353286806 |
376 | G>D | No |
ClinGen gnomAD |
|
|
rs1214039038 CA350639061 |
376 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 376 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350639003 rs1559237693 |
378 | S>F | No |
ClinGen Ensembl |
|
|
CA350638978 rs1357458399 |
379 | S>R | No |
ClinGen gnomAD |
|
|
CA350638899 rs1312067720 |
385 | S>R | No |
ClinGen gnomAD |
|
|
CA65949365 rs1013844965 |
388 | V>M | No |
ClinGen gnomAD |
|
|
rs752280190 CA65949358 |
390 | N>I | No |
ClinGen Ensembl |
|
|
CA2119497 rs755827109 |
391 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119496 rs780297861 |
394 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761734779 CA2119494 |
396 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA65949302 rs761590736 |
397 | D>N | No |
ClinGen gnomAD |
|
|
rs751502046 CA2119493 |
399 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA65949298 rs201624397 |
400 | I>M | No |
ClinGen Ensembl |
|
|
rs1196458315 CA350637132 |
401 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1266869069 CA350637147 |
401 | G>S | No |
ClinGen gnomAD |
|
|
rs1196458315 CA350637125 |
401 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA350637074 rs765241829 |
403 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350637082 rs1574814417 |
403 | I>T | No |
ClinGen Ensembl |
|
|
CA350637096 rs1481695656 |
403 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2119491 rs759631906 |
404 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA350637041 rs1432583811 |
405 | F>L | No |
ClinGen TOPMed |
|
|
rs776673782 CA2119490 |
406 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263567341 CA350637000 |
406 | S>R | No |
ClinGen gnomAD |
|
|
rs776673782 CA350637007 |
406 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528357507 CA2119488 |
407 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2119489 rs771149709 |
407 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 408 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350636927 rs1391609387 |
410 | N>S | No |
ClinGen gnomAD |
|
|
CA65949262 rs995316648 |
411 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs995316648 CA350636915 |
411 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs772387819 CA2119486 |
412 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA350636899 rs1166737573 |
412 | W>S | No |
ClinGen TOPMed |
|
|
rs377339072 CA65949223 |
415 | L>F | No |
ClinGen ESP TOPMed |
|
|
rs1407415851 CA350636831 |
416 | I>V | No |
ClinGen gnomAD |
|
|
CA350636812 rs1464797849 |
417 | V>L | No |
ClinGen gnomAD |
|
|
CA65949219 rs909111214 |
418 | F>S | No |
ClinGen TOPMed |
|
|
CA2119483 rs758743407 |
419 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs748839882 CA2119482 |
420 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1421077921 CA350636734 |
421 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1432459952 CA350636745 |
421 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs779471647 CA2119481 |
422 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA350636718 rs1424074180 |
422 | S>N | No |
ClinGen gnomAD |
|
|
CA350636702 rs1178059943 |
423 | L>F | No |
ClinGen TOPMed gnomAD |
|
| rs1263622910 | 425 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2119480 RCV000922882 rs111852229 |
425 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA350636589 rs1243298308 |
427 | L>P | No |
ClinGen gnomAD |
|
|
rs1049017915 CA65948807 |
429 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2119461 rs149851349 |
429 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1246658714 CA350636554 |
433 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 433 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2119458 rs757003616 |
434 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA350636538 rs1476004187 |
435 | R>K | No |
ClinGen TOPMed |
|
|
CA2119457 rs746772305 |
439 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65948779 rs775804124 |
439 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs771792814 CA2119456 |
440 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758314006 CA2119455 |
440 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758314006 CA350636507 |
440 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752648741 CA2119454 |
441 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs890965875 CA65948755 |
442 | M>T | No |
ClinGen Ensembl |
|
|
rs766418504 CA2119453 |
442 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs756165401 CA2119452 |
444 | T>I | No |
ClinGen ExAC |
|
|
CA65948751 rs138367973 |
447 | N>S | No |
ClinGen ESP |
|
|
rs1490401639 CA350636462 |
447 | N>Y | No |
ClinGen gnomAD |
|
|
rs767885705 CA2119450 |
448 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2119449 rs774835056 |
450 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764611865 CA2119447 |
450 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774835056 CA2119448 |
450 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119446 rs759414018 |
452 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775873530 CA2119445 |
452 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2119443 rs537009953 |
454 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA350636416 rs1404768194 |
456 | S>P | No |
ClinGen gnomAD |
|
|
rs369468310 CA65948717 |
457 | L>P | No |
ClinGen ESP gnomAD |
|
|
CA350636399 rs1358674748 |
459 | N>S | No |
ClinGen TOPMed |
|
|
rs777543848 CA2119438 |
460 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560555910 CA2119437 |
461 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs778740925 | 462 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200074767 CA2119436 RCV000520814 |
462 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA350636295 rs1276916501 |
464 | K>R | No |
ClinGen gnomAD |
|
|
CA2119413 rs781417749 |
465 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA916778413 rs1559236792 |
466 | Y>* | No |
ClinGen Ensembl |
|
|
rs1351619325 CA350636253 |
466 | Y>C | No |
ClinGen gnomAD |
|
|
rs757424774 CA2119412 |
467 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119409 rs777270402 |
468 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777270402 CA2119410 |
468 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111677240 CA2119407 |
469 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119406 rs111677240 |
469 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754343480 CA2119405 |
470 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs141029409 CA2119404 |
471 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 471 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772815355 CA2119402 |
472 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs140244896 CA2119400 |
475 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2119399 rs778541482 |
475 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA350636043 rs1480756295 |
476 | Y>C | No |
ClinGen TOPMed |
|
|
rs558103501 CA2119398 |
477 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119397 rs749179479 |
477 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350636017 rs1484505673 |
478 | E>K | No |
ClinGen gnomAD |
|
|
rs771092973 CA2119395 |
479 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs780162701 CA2119396 |
479 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA350635981 rs1172032405 |
480 | I>M | No |
ClinGen TOPMed |
|
|
CA2119394 rs747053444 |
480 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1238244313 CA350635972 |
481 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA65948371 rs538564058 |
481 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA350635756 rs1457901934 |
488 | W>C | No |
ClinGen TOPMed |
|
|
CA2119373 rs772193917 |
490 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119374 rs772193917 |
490 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779222692 CA350635678 |
491 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_084496 CA2119370 rs147445258 |
492 | A>T | may be a modifier of disease severity in porphyria patients; increases expression; does not affect susbtrate binding; impairs ATP-binding; Loss of ATP-dependent coproporphyrin III transport; Highly decrease plasma membrane expression [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1347611536 CA350635638 |
493 | S>L | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA350635613 rs1164771120 |
494 | L>P | No |
ClinGen gnomAD |
|
|
CA2119369 rs749624340 |
495 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs756601629 CA2119367 |
497 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs751006802 CA2119366 |
499 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295648959 CA350635496 |
500 | T>S | No |
ClinGen gnomAD |
|
|
CA350635480 rs1310400431 |
501 | Q>E | No |
ClinGen TOPMed |
|
|
CA2119364 rs756813864 |
502 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs763768429 CA2119362 |
504 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs762741744 CA2119361 |
505 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA350635390 rs1320862101 |
505 | I>V | No |
ClinGen TOPMed |
|
|
CA2119359 rs765188273 |
507 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs765188273 CA350635357 |
507 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA350635345 rs1559236594 |
507 | L>P | No |
ClinGen Ensembl |
|
|
CA2119355 rs757840060 |
508 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867934934 CA65948093 |
510 | L>F | No |
ClinGen Ensembl |
|
|
rs1442012572 CA350635265 |
511 | A>G | No |
ClinGen gnomAD |
|
|
rs140089441 CA2119353 |
511 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377028407 CA2119351 |
512 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1178564036 CA350635228 |
513 | S>F | No |
ClinGen gnomAD |
|
|
CA2119350 rs367776479 |
513 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350635209 rs1431623672 |
515 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA350635189 rs1160312520 |
516 | C>G | No |
ClinGen TOPMed |
|
|
CA350635187 rs1414846657 |
516 | C>Y | No |
ClinGen TOPMed |
|
|
CA2119346 rs532805022 |
517 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs532805022 CA2119347 |
517 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
TCGA novel rs758116183 CA2119343 |
518 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs1559236519 CA350635135 |
520 | V>I | No |
ClinGen Ensembl |
|
|
rs200689831 CA2119339 |
521 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149363094 CA2119338 |
521 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2119336 rs760581554 |
523 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774476996 CA2119335 |
526 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA65947853 rs199710050 |
527 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119312 rs199710050 |
527 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65947855 rs199710050 |
527 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119310 rs558652184 |
529 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2119308 rs759620730 |
530 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350634881 rs1559236358 |
533 | F>L | No |
ClinGen Ensembl |
|
|
rs747633841 CA2119307 |
533 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286530824 CA350634815 |
536 | Y>* | No |
ClinGen gnomAD |
|
|
rs1357672206 CA350634824 |
536 | Y>C | No |
ClinGen gnomAD |
|
|
rs778617467 CA2119305 |
537 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754649946 CA2119302 |
541 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA65947827 rs950000312 |
542 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2119300 rs779831693 |
542 | M>T | No |
ClinGen ExAC TOPMed |
|
|
rs748961870 CA2119301 |
542 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs375058924 CA65947812 |
543 | P>L | No |
ClinGen ESP gnomAD |
|
|
rs755876556 CA2119299 |
543 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750313098 CA2119298 |
545 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300118563 CA350634592 |
546 | W>C | No |
ClinGen TOPMed |
|
|
rs1340258110 CA350634527 |
549 | T>A | No |
ClinGen TOPMed |
|
|
CA350634509 rs1164994477 |
549 | T>I | No |
ClinGen gnomAD |
|
|
rs1214358511 CA350634493 |
550 | Y>C | No |
ClinGen TOPMed |
|
|
CA350634502 rs1456299932 |
550 | Y>N | No |
ClinGen gnomAD |
|
|
rs1453897053 CA350634468 |
551 | Y>C | No |
ClinGen TOPMed |
|
|
rs1290968004 CA350634473 |
551 | Y>D | No |
ClinGen TOPMed |
|
|
rs796065353 CA350634207 |
555 | Q>* | No |
ClinGen TOPMed |
|
|
CA350634161 rs1358874912 |
556 | T>A | No |
ClinGen TOPMed |
|
|
rs1273250105 CA350634130 |
556 | T>S | No |
ClinGen gnomAD |
|
|
rs1239251744 CA350634106 |
557 | N>D | No |
ClinGen gnomAD |
|
|
rs757181643 CA350634090 |
557 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs757181643 CA2119279 |
557 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs765300090 CA2119277 |
558 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119276 rs755031961 |
559 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273165956 CA350633959 |
561 | M>V | No |
ClinGen gnomAD |
|
|
rs387906908 RCV000023435 |
564 | M>missing | No |
ClinVar dbSNP |
|
|
rs1233572695 CA350633832 |
564 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs201713868 CA2119274 |
565 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350633701 rs1336733870 |
569 | K>E | No |
ClinGen gnomAD |
|
|
CA350633704 rs1336733870 |
569 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 573 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768065738 CA2119271 |
573 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763571986 CA2119250 |
574 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs774856775 CA2119249 |
576 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs371348525 CA2119246 |
577 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1453174845 CA350633350 |
577 | L>R | No |
ClinGen TOPMed |
|
|
rs371348525 CA2119247 |
577 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350633304 rs1251069927 |
579 | G>R | No |
ClinGen gnomAD |
|
|
rs777669550 CA2119243 |
582 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214473511 CA350633218 |
582 | P>S | No |
ClinGen gnomAD |
|
|
rs771893220 CA2119242 |
583 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs748186310 CA2119241 |
584 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs145498806 CA2119240 |
584 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs750626192 CA2119238 |
586 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145526996 CA2119237 VAR_084498 |
588 | G>S | may be a modifier of disease severity in porphyria patients; loss of expression [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA65947479 rs768364665 |
589 | R>C | No |
ClinGen gnomAD |
|
|
CA232137 rs483352876 RCV000119781 |
589 | R>H | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA350632926 rs1167205633 |
590 | I>V | No |
ClinGen Ensembl |
|
|
rs950736040 CA65947460 |
592 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 593 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1026355294 CA65947456 |
595 | V>A | No |
ClinGen gnomAD |
|
|
CA2119234 rs190137939 |
595 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs764585714 CA2119233 |
597 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA2119232 rs200153096 |
599 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA65947444 rs200153096 |
599 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350632504 rs1184999170 |
600 | A>S | No |
ClinGen gnomAD |
|
|
rs1485617413 CA350632497 |
600 | A>V | No |
ClinGen gnomAD |
|
|
CA2119230 rs764674184 |
601 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119208 rs765698382 |
603 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs778457867 CA2119209 |
603 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA65947286 rs376961879 |
604 | E>D | No |
ClinGen ESP gnomAD |
|
|
rs755525579 CA2119207 |
604 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs753330867 CA2119206 |
605 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574811950 CA350629370 |
605 | T>I | No |
ClinGen Ensembl |
|
|
CA2119203 CA2119204 rs374541848 |
609 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA |
|
CA2119202 rs374541848 |
609 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2119200 rs761698895 |
611 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119199 rs79512794 |
612 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79512794 CA65947227 |
612 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768694750 CA2119198 |
616 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2119197 rs749302568 |
617 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs749302568 CA65947225 |
617 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 619 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771055662 CA2119195 |
619 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs867654978 CA65947218 |
620 | A>P | No |
ClinGen Ensembl |
|
|
rs747150898 CA2119194 |
620 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA350629087 rs778083436 |
621 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350628905 rs1430473578 |
623 | G>D | No |
ClinGen TOPMed |
|
|
CA65946835 rs1033744512 |
623 | G>S | No |
ClinGen TOPMed |
|
|
rs201050758 CA65946826 |
625 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1188522622 CA350628858 |
626 | G>R | No |
ClinGen Ensembl |
|
|
rs1559235672 CA350628824 |
627 | A>V | No |
ClinGen Ensembl |
|
|
CA2119154 rs763931407 |
630 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA350628769 rs1231769302 |
630 | S>N | No |
ClinGen gnomAD |
|
|
CA350628754 rs1334608535 |
631 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs762871177 CA2119153 |
631 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs368914048 CA65946785 |
632 | I>V | No |
ClinGen TOPMed |
|
|
rs765195871 CA2119151 |
634 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2119150 rs759447077 |
634 | R>H | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2119149 rs773335440 |
636 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 636 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350628720 rs1186292390 |
637 | F>S | No |
ClinGen gnomAD |
|
|
CA2119147 rs761968111 |
638 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774582031 CA2119146 |
638 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs749622093 CA2119145 |
639 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1416865071 CA350628709 |
639 | F>Y | No |
ClinGen gnomAD |
|
|
rs770322005 CA2119142 |
641 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474145675 CA350628693 |
641 | D>V | No |
ClinGen Ensembl |
|
| TCGA novel | 642 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350628683 rs1187107154 |
643 | S>R | No |
ClinGen TOPMed |
|
|
rs1452695876 CA350628671 |
644 | S>C | No |
ClinGen gnomAD |
|
|
RCV000023436 rs376664522 CA129258 |
648 | R>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs13402964 CA2119139 RCV000901777 VAR_029749 |
648 | R>Q | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA350628641 rs1160310532 |
649 | I>T | No |
ClinGen TOPMed |
|
|
rs1259074194 CA350628633 |
650 | D>G | No |
ClinGen gnomAD |
|
|
CA350628619 rs1337643914 |
651 | G>R | No |
ClinGen gnomAD |
|
|
CA2119137 rs777536916 |
653 | D>V | No |
ClinGen ExAC |
|
|
rs752520577 CA2119136 |
654 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs752520577 CA2119135 |
654 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs377218006 CA2119109 |
659 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2119108 rs140239756 |
660 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1253430525 CA350685106 |
660 | A>T | No |
ClinGen TOPMed |
|
|
CA2119107 rs140239756 |
660 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1354495193 CA350685054 |
661 | S>P | No |
ClinGen gnomAD |
|
|
RCV000023437 rs387906909 |
662 | L>missing | No |
ClinVar dbSNP |
|
|
rs747584957 CA350684996 |
663 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2119104 rs747584957 |
663 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253995824 CA350684977 |
665 | H>D | No |
ClinGen gnomAD |
|
|
rs772779797 CA2119103 |
665 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs747789288 CA2119101 |
666 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356916555 CA350684939 |
666 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs868336706 CA65999190 |
667 | G>K | No |
ClinGen Ensembl |
|
|
CA2119100 rs778462988 |
667 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs754700955 CA2119098 |
668 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA350684875 rs1307984453 |
669 | V>L | No |
ClinGen TOPMed |
|
|
CA2119097 rs749015050 |
670 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350684840 rs1238501752 |
671 | Q>H | No |
ClinGen TOPMed |
|
|
CA2119094 rs368465444 |
672 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2119095 rs372490763 |
672 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2119096 rs372490763 |
672 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2119093 rs571507877 |
673 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575267113 CA350684807 |
673 | T>N | No |
ClinGen gnomAD |
|
|
CA65999107 rs575267113 |
673 | T>S | No |
ClinGen gnomAD |
|
|
rs752858081 CA2119091 |
674 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA350684740 rs1482644331 |
675 | L>H | No |
ClinGen TOPMed |
|
|
rs765350850 CA65999094 |
675 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765350850 CA2119090 |
675 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551516578 CA2119089 |
677 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2119087 rs766853225 |
679 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1574809653 CA350684640 |
679 | T>P | No |
ClinGen Ensembl |
|
|
CA350684569 rs142421126 |
681 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142421126 CA2119085 VAR_084499 |
681 | A>T | may be a modifier of disease severity in porphyria patients; loss of expression [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs771572717 CA2119084 |
681 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144295428 CA2119082 |
682 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144295428 CA2119081 |
682 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139523052 CA2119079 |
685 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769593420 CA2119078 |
685 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65998984 rs1050020632 |
687 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA350684361 rs781073692 |
688 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781073692 CA2119076 |
688 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757264353 CA2119075 |
688 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 689 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752702110 CA2119074 |
690 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 691 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574809553 CA350684187 |
693 | N>K | No |
ClinGen Ensembl |
|
|
rs1484857722 CA350684225 |
693 | N>S | No |
ClinGen gnomAD |
|
|
CA350684090 rs1574809544 |
695 | E>G | No |
ClinGen Ensembl |
|
|
rs756693999 CA2119071 |
696 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65998897 rs558142122 |
698 | A>V | No |
ClinGen Ensembl |
|
|
CA350683983 rs1232321559 |
699 | A>V | No |
ClinGen gnomAD |
|
|
CA2119068 rs754124382 |
700 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA350683917 rs1297100019 |
701 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2119067 rs367789409 |
702 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA350683880 rs1360644284 |
703 | A>V | No |
ClinGen gnomAD |
|
|
CA2119066 rs761155760 |
704 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs373632871 CA2119065 |
705 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350683785 rs1392780830 |
706 | H>R | No |
ClinGen gnomAD |
|
|
CA2119063 rs762440347 |
708 | A>S | No |
ClinGen ExAC |
|
|
rs925305210 CA65998800 |
713 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2119030 rs780340410 |
715 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2119060 rs773733787 |
715 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA65998582 rs891602574 |
716 | Y>* | No |
ClinGen TOPMed |
|
|
rs746097689 CA2119028 |
717 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA350683330 rs1374902107 |
717 | R>K | No |
ClinGen gnomAD |
|
|
rs961485762 CA65998579 |
717 | R>S | No |
ClinGen Ensembl |
|
|
rs1220683508 CA350683311 |
718 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs757665334 CA2119026 |
722 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199515171 CA2119025 |
723 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1484433825 CA350683229 |
724 | G>A | No |
ClinGen gnomAD |
|
|
rs1189611597 CA350683233 |
724 | G>R | No |
ClinGen gnomAD |
|
|
rs1574809149 CA350683188 |
727 | L>R | No |
ClinGen Ensembl |
|
|
CA350683150 rs759130968 |
728 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs541845688 CA2119020 |
729 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146941118 CA2119018 |
730 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs970906080 CA65998534 |
731 | E>G | No |
ClinGen gnomAD |
|
|
CA350683114 rs1295400085 |
731 | E>K | No |
ClinGen gnomAD |
|
|
rs1574809093 CA350683094 |
732 | K>E | No |
ClinGen Ensembl |
|
|
CA2119015 rs748165114 |
734 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2119014 rs775648840 |
734 | R>H | No |
ClinGen ExAC |
|
|
CA2119011 rs200561796 |
735 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1456564537 CA350682994 |
736 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA350682987 rs1418283746 |
736 | A>V | No |
ClinGen gnomAD |
|
|
CA2119010 rs771104281 |
737 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA350682966 rs1445123809 |
738 | A>S | No |
ClinGen TOPMed |
|
|
rs916835650 CA65998499 |
738 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2119009 RCV001812426 rs141840760 |
739 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs192931087 CA2119008 |
739 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1283576394 CA350682924 |
740 | T>A | No |
ClinGen TOPMed |
|
|
CA350682890 rs1429765617 |
741 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1260330225 CA350682874 |
743 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA350682873 rs1260330225 |
743 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA350682845 rs1208623912 |
743 | K>R | No |
ClinGen gnomAD |
|
|
rs758832533 CA2119007 |
745 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA350682803 rs1469221373 |
745 | P>S | No |
ClinGen gnomAD |
|
|
CA350682787 rs1181535862 |
746 | G>D | No |
ClinGen gnomAD |
|
|
CA350682722 rs1270850502 |
751 | D>A | No |
ClinGen gnomAD |
|
|
rs778345833 CA2119004 |
752 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2118976 rs371649861 |
754 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2118975 rs61733626 |
754 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1251196290 CA350682465 |
756 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA350682457 rs1350124446 |
757 | L>R | No |
ClinGen gnomAD |
|
|
rs1282443956 CA350682428 |
758 | D>E | No |
ClinGen gnomAD |
|
|
CA2118969 rs769204596 |
763 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2118968 rs749764247 |
765 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2118967 rs779559316 |
766 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs779559316 CA65998126 |
766 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA2118966 rs755605183 |
769 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA350682151 rs1489553941 |
771 | K>E | No |
ClinGen TOPMed |
|
|
CA2118964 rs780963802 |
771 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs1190925995 CA350682130 |
771 | K>N | No |
ClinGen TOPMed |
|
|
rs201416447 CA2118962 |
772 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201416447 CA2118963 |
772 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139647510 CA2118960 |
776 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752595656 CA2118959 |
776 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139647510 CA65998090 |
776 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2118958 rs766441015 |
777 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs143621292 CA2118957 |
778 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2118955 rs767715022 |
780 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs201104967 CA2118956 |
780 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2118953 rs774631222 |
781 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs762091274 CA2118954 |
781 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs768916909 CA2118952 |
783 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs760121226 CA2118931 |
784 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1056515562 CA65997937 |
785 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1044559075 CA65997933 |
789 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1044559075 CA350681742 |
789 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2118929 rs770584111 |
790 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2118928 rs199955293 |
790 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199955293 CA2118927 |
790 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs771803840 CA2118926 |
791 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350681723 rs1180231761 |
791 | A>T | No |
ClinGen gnomAD |
|
|
rs753788507 CA2118923 |
796 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2118922 rs753788507 |
796 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2118921 rs201123852 |
797 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751703520 CA2118919 |
798 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350681608 rs1460638206 |
799 | D>N | No |
ClinGen TOPMed |
|
|
rs143511636 CA2118917 |
800 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365032416 CA350681570 |
801 | C>R | No |
ClinGen gnomAD |
|
|
rs773780139 CA65997840 |
802 | I>V | No |
ClinGen gnomAD |
|
|
CA350681543 rs1057066072 |
803 | V>L | No |
ClinGen gnomAD |
|
|
CA65997831 rs1057066072 |
803 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 804 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 805 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574808110 CA350681499 |
806 | G>E | No |
ClinGen Ensembl |
|
|
CA2118914 rs201568572 |
807 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2118913 rs777306155 |
807 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs761325184 CA2118887 |
808 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350681353 rs1290065198 |
808 | H>Y | No |
ClinGen TOPMed |
|
|
CA2118885 rs768341073 |
809 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2118886 rs768341073 |
809 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350681308 rs1286726729 |
810 | A>P | No |
ClinGen gnomAD |
|
|
CA2118884 rs141144142 |
810 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA2118881 rs745827559 |
814 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA2118882 rs745827559 |
814 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs543774852 CA65997490 |
814 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs777660932 CA2118880 |
815 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1420407519 CA350681193 |
816 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA65997460 rs1049959061 |
817 | V>A | No |
ClinGen TOPMed |
|
|
CA2118878 rs553140087 |
817 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2118879 rs553140087 |
817 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2118877 rs373393094 |
818 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA65997458 rs1004119780 |
818 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs755306736 CA2118876 |
821 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA350681092 rs1390537669 |
821 | M>K | No |
ClinGen gnomAD |
|
|
rs754250687 CA65997429 |
822 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2118874 rs754250687 |
822 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766853293 CA2118873 |
824 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA350680982 rs1300525177 |
826 | Q>E | No |
ClinGen TOPMed |
|
|
rs780047348 CA65997416 |
827 | G>R | No |
ClinGen TOPMed |
|
|
CA350680952 rs1417953871 |
828 | Q>R | No |
ClinGen gnomAD |
|
|
rs1574807563 CA350680933 |
829 | E>G | No |
ClinGen Ensembl |
|
|
rs1256146432 CA350680867 |
831 | T>I | No |
ClinGen gnomAD |
|
|
CA350680880 rs1574807538 |
831 | T>P | No |
ClinGen Ensembl |
|
|
rs1466549488 CA350680827 |
833 | E>D | No |
ClinGen gnomAD |
|
|
CA2118872 rs756521360 |
834 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2118871 rs750962689 |
834 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs539822413 CA2118870 |
835 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1267444481 CA350680791 |
835 | T>I | No |
ClinGen gnomAD |
|
|
CA2118869 rs375057553 |
837 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2118868 rs372899405 |
838 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350680739 rs763725814 |
838 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs763725814 CA2118867 |
838 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA65997382 rs199873911 |
839 | T>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs762664642 CA2118866 |
842 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1318219460 CA350680658 |
842 | R>W | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9NP58
1 regional properties for Q9NP58
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Septin-type guanine nucleotide-binding (G) domain | 39 - 308 | IPR030379 |
Functions
| Description | ||
|---|---|---|
| EC Number | 7.6.2.5 | Linked to the hydrolysis of a nucleoside triphosphate |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
21 GO annotations of cellular component
| Name | Definition |
|---|---|
| ATP-binding cassette (ABC) transporter complex | A complex for the transport of metabolites into and out of the cell, typically comprised of four domains; two membrane-associated domains and two ATP-binding domains at the intracellular face of the membrane, that form a central pore through the plasma membrane. Each of the four core domains may be encoded as a separate polypeptide or the domains can be fused in any one of a number of ways into multidomain polypeptides. In Bacteria and Archaebacteria, ABC transporters also include substrate binding proteins to bind substrate external to the cytoplasm and deliver it to the transporter. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| endolysosome membrane | The lipid bilayer surrounding an endolysosome. An endolysosome is a transient hybrid organelle formed by fusion of a late endosome with a lysosome. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| 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. |
| integral component of mitochondrial outer membrane | The component of the mitochondrial outer membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| melanosome membrane | The lipid bilayer surrounding a melanosome. |
| mitochondrial envelope | The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| multivesicular body membrane | The lipid bilayer surrounding a multivesicular body. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| vacuolar membrane | The lipid bilayer surrounding the vacuole and separating its contents from the cytoplasm of the cell. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ABC-type heme transporter activity | Catalysis of the reaction: ATP + H2O + heme(in) = ADP + phosphate + heme(out). |
| ABC-type transporter activity | Primary active transporter characterized by two nucleotide-binding domains and two transmembrane domains. Uses the energy generated from ATP hydrolysis to drive the transport of a substance across a membrane. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| ATPase-coupled transmembrane transporter activity | Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source. |
| efflux transmembrane transporter activity | Enables the transfer of a specific substance or related group of substances from the inside of the cell to the outside of the cell across a membrane. |
| heme binding | Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring. |
| tetrapyrrole binding | Binding to a tetrapyrrole, a compound containing four pyrrole nuclei variously substituted and linked to each other through carbons at the alpha position. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| cellular copper ion homeostasis | Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell. |
| cellular detoxification of cadmium ion | Any process that reduces or removes the toxicity of cadmium cations in a cell. These include transport of cadmium cations away from sensitive areas and to compartments or complexes whose purpose is sequestration. |
| cellular iron ion homeostasis | Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell. |
| heme metabolic process | The chemical reactions and pathways involving heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring. |
| heme transmembrane transport | The process in which heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| heme transport | The directed movement of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| melanosome assembly | The aggregation, arrangement and bonding together of a set of components to form a melanosome, a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. |
| porphyrin-containing compound biosynthetic process | The chemical reactions and pathways resulting in the formation of any member of a large group of derivatives or analogs of porphyrin. Porphyrin consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. |
| porphyrin-containing compound metabolic process | The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. |
| skin development | The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue. |
| tetrapyrrole metabolic process | The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. |
| 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 |
|---|---|---|---|---|
| P40416 | ATM1 | Iron-sulfur clusters transporter ATM1, mitochondrial | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| O95342 | ABCB11 | Bile salt export pump | Homo sapiens (Human) | PR |
| P08183 | ABCB1 | ATP-dependent translocase ABCB1 | Homo sapiens (Human) | PR |
| Q9DC29 | Abcb6 | ATP-binding cassette sub-family B member 6 | Mus musculus (Mouse) | PR |
| O70595 | Abcb6 | ATP-binding cassette sub-family B member 6 | Rattus norvegicus (Rat) | PR |
| Q9M0G9 | ABCB24 | ABC transporter B family member 24, mitochondrial | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FUT3 | ABCB23 | ABC transporter B family member 23, mitochondrial | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LVM1 | ABCB25 | ABC transporter B family member 25, mitochondrial | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVTVGNYCEA | EGPVGPAWMQ | DGLSPCFFFT | LVPSTRMALG | TLALVLALPC | RRRERPAGAD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SLSWGAGPRI | SPYVLQLLLA | TLQAALPLAG | LAGRVGTARG | APLPSYLLLA | SVLESLAGAC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GLWLLVVERS | QARQRLAMGI | WIKFRHSPGL | LLLWTVAFAA | ENLALVSWNS | PQWWWARADL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GQQVQFSLWV | LRYVVSGGLF | VLGLWAPGLR | PQSYTLQVHE | EDQDVERSQV | RSAAQQSTWR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DFGRKLRLLS | GYLWPRGSPA | LQLVVLICLG | LMGLERALNV | LVPIFYRNIV | NLLTEKAPWN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SLAWTVTSYV | FLKFLQGGGT | GSTGFVSNLR | TFLWIRVQQF | TSRRVELLIF | SHLHELSLRW |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HLGRRTGEVL | RIADRGTSSV | TGLLSYLVFN | VIPTLADIII | GIIYFSMFFN | AWFGLIVFLC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MSLYLTLTIV | VTEWRTKFRR | AMNTQENATR | ARAVDSLLNF | ETVKYYNAES | YEVERYREAI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IKYQGLEWKS | SASLVLLNQT | QNLVIGLGLL | AGSLLCAYFV | TEQKLQVGDY | VLFGTYIIQL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YMPLNWFGTY | YRMIQTNFID | MENMFDLLKE | ETEVKDLPGA | GPLRFQKGRI | EFENVHFSYA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DGRETLQDVS | FTVMPGQTLA | LVGPSGAGKS | TILRLLFRFY | DISSGCIRID | GQDISQVTQA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SLRSHIGVVP | QDTVLFNDTI | ADNIRYGRVT | AGNDEVEAAA | QAAGIHDAIM | AFPEGYRTQV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GERGLKLSGG | EKQRVAIART | ILKAPGIILL | DEATSALDTS | NERAIQASLA | KVCANRTTIV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VAHRLSTVVN | ADQILVIKDG | CIVERGRHEA | LLSRGGVYAD | MWQLQQGQEE | TSEDTKPQTM |
| ER |