Q32M84
PR
Gene name |
BTBD16 (C10orf87) |
Protein name |
BTB/POZ domain-containing protein 16 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:118663 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q32M84
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q32M84-F1 | Predicted | AlphaFoldDB |
451 variants for Q32M84
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000149342 CA174820 rs193920863 |
28 | P>S | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs144192653 CA5724591 |
2 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5724592 rs773115186 |
3 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202210822 CA5724593 |
4 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA378576645 rs1281312956 |
4 | S>T | No |
ClinGen gnomAD |
|
|
CA378576664 rs1465000175 |
5 | N>K | No |
ClinGen gnomAD |
|
| rs756908935 | 6 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5724594 COSM1317481 rs202065129 |
6 | T>M | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs533035716 CA5724613 |
7 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147443532 CA5724614 |
8 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376150771 CA5724615 |
10 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA214367853 rs939704509 |
10 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5724616 rs199722976 |
13 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs560183152 CA5724617 |
13 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs11200524 CA378577133 |
14 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5724619 rs11200524 |
14 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5724618 rs115514164 |
14 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378577157 rs1307533253 |
18 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1554886206 CA5724622 |
19 | T>I | No |
ClinGen Ensembl |
|
|
rs201541214 CA5724624 |
20 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147619675 CA378577170 |
21 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754204178 CA378577172 |
21 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754204178 CA5724626 |
21 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147619675 CA5724625 |
21 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5724628 rs755133680 COSM3414762 |
23 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1042679506 CA214367918 COSM203015 |
23 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA5724627 rs755133680 |
23 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967094439 CA214367919 |
24 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA214367920 rs1000184541 |
27 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs756368393 CA214367925 |
32 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5724630 rs772087518 |
35 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5724631 rs370295182 |
38 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1374718664 CA378577282 |
39 | M>I | No |
ClinGen gnomAD |
|
|
rs745851544 CA214367945 |
39 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs551138650 CA5724633 |
39 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5724632 rs745851544 |
39 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs775081925 CA5724634 |
40 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs375412725 CA5724635 |
40 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5724636 rs768382345 |
41 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5724637 rs774186295 |
42 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5724638 rs140815607 |
43 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs958406577 CA214367991 |
45 | I>M | No |
ClinGen TOPMed |
|
|
rs1013155186 CA214367990 |
45 | I>T | No |
ClinGen gnomAD |
|
|
CA5724639 rs766993265 |
47 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 47 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378577337 rs1390850514 |
48 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA5724640 rs181551776 |
50 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378577364 rs1163048829 |
52 | R>W | No |
ClinGen TOPMed |
|
| TCGA novel | 53 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5724641 rs761016624 |
54 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5724642 rs766919262 |
55 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA378577394 rs1414023522 |
56 | R>M | No |
ClinGen TOPMed |
|
|
rs1156500411 CA378578422 |
56 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1346542989 CA378578453 |
58 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs147828619 CA5724665 |
58 | C>Y | No |
ClinGen 1000Genomes ExAC |
|
|
rs1430998023 CA378578458 |
59 | I>V | No |
ClinGen gnomAD |
|
|
CA5724666 rs758483150 |
61 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs991746859 CA214371975 |
61 | Q>R | No |
ClinGen TOPMed |
|
|
rs751546180 CA5724668 |
62 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs780115777 CA5724670 |
63 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA214371985 rs889502416 |
64 | K>Q | No |
ClinGen Ensembl |
|
|
CA378578564 rs1285561710 |
66 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5724672 rs749296051 |
66 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1216982193 CA378578589 |
68 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs150016478 CA5724673 |
68 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141213419 CA5724674 |
70 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747985779 CA5724675 |
73 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA378578698 rs1490846704 |
74 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA378578713 rs1201542269 |
75 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1358390639 CA378578763 |
76 | Q>H | No |
ClinGen TOPMed |
|
|
rs267602395 CA214372005 |
79 | E>K | No |
ClinGen TOPMed |
|
|
CA5724676 rs754168063 |
80 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378579464 rs202143948 |
81 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378578865 rs1333746128 |
81 | D>N | No |
ClinGen TOPMed |
|
|
rs1043615731 CA214373152 |
82 | V>M | No |
ClinGen Ensembl |
|
|
rs903745399 CA214373153 |
84 | L>F | No |
ClinGen gnomAD |
|
|
CA5724699 rs184894629 |
85 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs184894629 CA5724700 |
85 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5724701 rs763202235 |
86 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA378579545 rs1212760899 |
87 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5724703 rs545568590 |
88 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1458053837 CA378579555 |
88 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs545568590 CA378579568 |
88 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378579601 rs1358287775 |
89 | F>L | No |
ClinGen TOPMed |
|
|
CA5724704 rs762055536 |
91 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1462405466 CA378579631 |
91 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1462405466 CA378579634 |
91 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5724705 rs767865416 |
92 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA214373196 rs144981513 |
92 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA214373202 rs144981513 |
92 | E>Q | No |
ClinGen ESP TOPMed |
|
|
rs1170237168 CA378579738 |
94 | H>R | No |
ClinGen TOPMed |
|
|
rs371369037 COSM1721546 CA5724707 |
95 | Q>* | NS [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs371369037 CA5724706 |
95 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752731108 CA5724709 |
98 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs758116503 CA5724710 |
99 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 100 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378579883 rs1408722103 |
101 | S>C | No |
ClinGen gnomAD |
|
|
rs865872269 CA214373220 |
101 | S>P | No |
ClinGen Ensembl |
|
|
CA378579907 rs1487166224 |
102 | E>D | No |
ClinGen TOPMed |
|
|
rs1013735283 CA214373224 |
102 | E>Q | No |
ClinGen gnomAD |
|
|
rs200382240 CA5724711 |
103 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751317054 CA5724712 |
105 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs138787133 CA5724713 |
107 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5724714 rs780848905 |
109 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs769336919 CA378580149 |
113 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769336919 CA5724716 |
113 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1284449337 CA378580197 |
115 | G>V | No |
ClinGen TOPMed |
|
|
rs1260524875 CA378580207 |
116 | T>N | No |
ClinGen gnomAD |
|
|
rs1444793865 CA378580214 |
117 | T>A | No |
ClinGen gnomAD |
|
|
CA5724719 rs769043918 |
117 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs145863011 CA378580239 |
118 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1218461200 CA378580232 |
118 | H>R | No |
ClinGen TOPMed |
|
|
rs1263269726 CA378580227 |
118 | H>Y | No |
ClinGen gnomAD |
|
|
rs762290360 CA5724721 |
119 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5724724 rs561249816 |
120 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5724725 rs766540683 |
123 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs373964027 CA5724726 |
125 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5724727 rs762882167 |
126 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs751310118 CA5724729 |
128 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM915566 rs368179412 CA5724730 |
128 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1358116484 CA378581648 |
129 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA378580478 rs1421399215 |
129 | A>P | No |
ClinGen TOPMed |
|
|
rs1358116484 CA378581649 |
129 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1031080773 CA214376129 |
130 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 130 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761577333 CA5724747 |
132 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 132 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5724748 rs767363852 |
132 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 133 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5724749 rs148145757 |
133 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378581755 rs1421206530 |
134 | K>N | No |
ClinGen gnomAD |
|
|
CA5724750 rs755730720 |
135 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755730720 CA378581759 |
135 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765965199 CA5724751 |
136 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 137 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350511772 CA378581827 |
139 | S>T | No |
ClinGen gnomAD |
|
|
rs754485392 CA5724753 |
142 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs914402346 CA214376177 |
143 | R>G | No |
ClinGen Ensembl |
|
|
rs1236557666 CA378581919 |
144 | I>T | No |
ClinGen TOPMed |
|
|
CA378581933 rs779450936 |
145 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5724754 rs779450936 |
145 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378582049 rs1381647204 |
150 | I>F | No |
ClinGen gnomAD |
|
|
rs1564967878 CA378582078 |
151 | N>K | No |
ClinGen Ensembl |
|
|
rs1297550680 CA378582117 |
153 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 155 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378582172 rs1314329136 |
156 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1408853683 CA378582191 |
157 | K>E | No |
ClinGen gnomAD |
|
| rs367755013 | 158 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747392512 CA5724759 |
159 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5724758 rs747392512 |
159 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265384993 CA378583138 |
160 | F>C | No |
ClinGen gnomAD |
|
|
CA5724783 rs547145447 |
161 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5724782 rs547145447 |
161 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5724784 rs760494805 |
161 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA378583155 rs1256825435 |
162 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs141937724 CA5724785 |
162 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1256825435 CA378583153 |
162 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA214377275 rs892780723 |
163 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5724787 rs759045854 |
168 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341819746 CA378583269 |
169 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs976462540 CA214377300 |
170 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs764996066 CA5724788 |
172 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378583376 rs1344056128 |
175 | N>H | No |
ClinGen gnomAD |
|
|
CA5724789 rs149699378 |
177 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762586523 CA5724790 |
178 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5724793 rs369288423 |
182 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1463452770 CA378583492 |
184 | A>S | No |
ClinGen TOPMed |
|
|
rs781341697 CA5724794 |
184 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5724797 rs780282713 |
186 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA214377345 rs955736780 |
187 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA378583565 rs1361902725 |
189 | L>F | No |
ClinGen gnomAD |
|
|
CA5724798 rs749334573 |
190 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA5724802 rs777751157 |
191 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5724800 rs768772900 |
191 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA5724801 rs754525137 |
191 | F>W | No |
ClinGen ExAC |
|
|
CA378583618 rs1439179038 |
192 | S>G | No |
ClinGen gnomAD |
|
|
CA378583616 rs1439179038 |
192 | S>R | No |
ClinGen gnomAD |
|
|
CA5724803 rs746985229 |
194 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1564970189 CA378583646 |
194 | L>V | No |
ClinGen Ensembl |
|
|
rs150125169 CA5724804 |
195 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377339402 CA378584652 |
197 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378584661 rs1358488420 |
198 | C>G | No |
ClinGen gnomAD |
|
|
rs926701588 CA214380731 |
198 | C>Y | No |
ClinGen Ensembl |
|
|
rs373320691 CA214380739 |
199 | V>A | No |
ClinGen ESP TOPMed |
|
|
rs193253606 CA5724825 |
199 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 200 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA214380749 rs377565951 |
202 | M>L | No |
ClinGen ESP |
|
|
rs1196576447 CA378584800 |
204 | A>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 204 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5724827 rs775270885 |
205 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1457983823 CA378584906 |
210 | T>N | No |
ClinGen gnomAD |
|
|
rs1182578114 CA378584929 |
211 | I>M | No |
ClinGen gnomAD |
|
|
CA5724828 rs529156638 |
213 | K>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1473473152 CA378584961 |
213 | K>I | No |
ClinGen gnomAD |
|
|
rs768370657 CA378584991 |
214 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761412759 CA5724832 |
215 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1185028 CA5724833 rs773818022 |
216 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA378585063 rs766795178 |
218 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5724835 rs766795178 |
218 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270646207 CA378585066 |
218 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA378585983 rs1215588028 |
221 | Y>C | No |
ClinGen TOPMed |
|
|
CA378585989 rs1336180633 |
222 | K>E | No |
ClinGen TOPMed |
|
|
CA5724868 rs547668341 |
222 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA5724869 rs367553311 |
224 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378586003 rs367553311 |
224 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378586021 rs747901565 |
226 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5724871 rs747901565 |
226 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332549047 CA378586027 |
227 | T>I | No |
ClinGen gnomAD |
|
|
rs746545674 CA5724874 |
228 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1564981281 CA378586032 |
228 | T>I | No |
ClinGen Ensembl |
|
|
CA214381606 rs750517195 |
229 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA214381596 rs750517195 |
229 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs750517195 CA5724876 |
229 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1208561135 CA378586061 |
231 | E>G | No |
ClinGen gnomAD |
|
|
rs76567565 CA5724878 |
231 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378586088 rs1287035627 |
233 | W>R | No |
ClinGen TOPMed |
|
|
rs763171767 CA5724880 |
235 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5724881 rs764427943 |
236 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1590066879 CA378586176 |
237 | N>K | No |
ClinGen Ensembl |
|
|
rs751647214 CA5724882 |
239 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5724883 rs201642189 |
240 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378586232 rs1364169701 |
241 | L>P | No |
ClinGen TOPMed |
|
|
CA5724888 rs147355457 |
242 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5724886 rs147355457 |
242 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5724887 rs147355457 |
242 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1056961575 CA214381651 |
243 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5724889 rs201182316 |
243 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1056961575 CA378586258 |
243 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1330397417 CA378586266 |
244 | T>A | No |
ClinGen gnomAD |
|
| rs774408792 | 244 | T>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5724892 rs536391759 |
244 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536391759 CA5724891 |
244 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs774408792 | 244 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309422852 CA378586284 |
245 | Q>* | No |
ClinGen gnomAD |
|
|
CA378586317 rs1320525526 |
246 | I>T | No |
ClinGen gnomAD |
|
|
CA378586349 rs1267708441 |
247 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 248 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs576366358 CA5724895 |
252 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1345356850 CA378586629 |
254 | D>G | No |
ClinGen TOPMed |
|
|
rs770211087 CA5724897 |
255 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1179432676 CA378586682 |
256 | L>F | No |
ClinGen gnomAD |
|
|
rs1179432676 CA378586669 |
256 | L>I | No |
ClinGen gnomAD |
|
|
CA378586714 rs763254743 |
257 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1422092117 CA378586826 |
262 | S>F | No |
ClinGen gnomAD |
|
|
rs768964595 CA5724900 |
263 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA378589371 rs143755383 |
265 | L>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA214390658 rs751515860 |
266 | F>Y | No |
ClinGen Ensembl |
|
|
rs201237695 CA5724924 |
267 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378589476 rs1475876920 |
269 | S>N | No |
ClinGen TOPMed |
|
|
CA214390665 rs149201283 COSM108269 |
270 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA378589583 rs1487962736 |
272 | H>R | No |
ClinGen gnomAD |
|
|
rs1256672950 CA378589579 |
272 | H>Y | No |
ClinGen gnomAD |
|
|
rs1023456079 CA214390674 |
273 | L>V | No |
ClinGen TOPMed |
|
|
rs1274838757 CA378589647 |
274 | L>P | No |
ClinGen TOPMed |
|
|
rs760699238 CA5724927 |
275 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs865989200 CA214390700 |
278 | L>F | No |
ClinGen Ensembl |
|
|
CA378589840 rs1186961546 |
281 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA378589954 rs1564993336 |
284 | Q>P | No |
ClinGen Ensembl |
|
|
CA5724929 rs775340059 |
285 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 288 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5724930 rs762725551 |
288 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5724931 rs763946650 |
289 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295788749 CA378590220 |
291 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs148672960 CA5724932 |
293 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5724936 rs768216111 |
298 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA214390749 rs951810282 |
299 | M>T | No |
ClinGen Ensembl |
|
|
CA378590624 rs1331297500 |
302 | F>L | No |
ClinGen TOPMed |
|
|
rs1302192276 CA378590670 |
304 | S>C | No |
ClinGen gnomAD |
|
|
rs1365458482 CA378596132 |
306 | P>S | No |
ClinGen TOPMed |
|
|
rs764034650 CA5724950 |
307 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378596205 rs1444826392 |
308 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA378596195 rs1444826392 |
308 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA214404093 rs755833806 |
309 | C>G | No |
ClinGen gnomAD |
|
|
CA214404114 rs914523556 |
313 | D>G | No |
ClinGen Ensembl |
|
|
CA378596356 rs1224302801 |
313 | D>Y | No |
ClinGen gnomAD |
|
|
CA378596375 rs151075028 |
314 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5724954 COSM1346397 rs139778632 |
314 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs151075028 CA5724952 |
314 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5724956 rs765736764 |
316 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA378596439 rs1370524405 |
316 | I>V | No |
ClinGen TOPMed |
|
|
rs2421013 CA378596490 |
318 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2421013 CA378596487 |
318 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2421013 CA5724958 VAR_027070 |
318 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5724957 rs753410399 |
318 | R>W | Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA378596512 rs1470158941 |
319 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs563548078 CA5724959 |
322 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5724961 rs758884114 |
323 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778042734 CA5724962 |
323 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378596679 rs1399954221 |
326 | C>F | No |
ClinGen gnomAD |
|
|
rs1464270421 CA378596741 |
328 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs747263313 CA5724963 |
328 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5724967 rs986178 VAR_027071 |
331 | G>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5724966 rs745974469 |
331 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5724968 rs774318612 |
332 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA214404246 rs371877046 |
333 | T>I | No |
ClinGen ESP |
|
|
rs1219353148 CA378597228 |
339 | E>* | No |
ClinGen gnomAD |
|
|
rs1262869736 CA378597236 |
339 | E>D | No |
ClinGen gnomAD |
|
|
rs1219353148 CA378597224 |
339 | E>K | No |
ClinGen gnomAD |
|
|
rs1324836768 CA378597242 |
340 | V>L | No |
ClinGen gnomAD |
|
|
rs745448427 CA5725011 |
342 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs113568037 CA5725010 |
342 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378597312 rs1378496135 |
344 | L>F | No |
ClinGen gnomAD |
|
|
rs775094360 CA5725013 |
345 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5725015 rs762558720 |
351 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA5725019 rs767799097 |
353 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA5725017 rs201203665 |
353 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201203665 CA5725018 |
353 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378597455 rs201203665 |
353 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378597479 rs1590099828 |
354 | Q>P | No |
ClinGen Ensembl |
|
|
rs750796567 CA5725020 |
355 | V>G | No |
ClinGen ExAC |
|
|
rs1307911969 CA378597495 |
355 | V>I | No |
ClinGen gnomAD |
|
|
rs756278262 CA5725021 |
357 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766617521 CA5725022 |
359 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA378597569 rs1241845742 |
359 | H>Y | No |
ClinGen gnomAD |
|
|
CA5725023 rs753828510 |
361 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5725025 rs777558447 |
362 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5725026 rs747034238 |
362 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs942208024 CA214406508 |
363 | L>V | No |
ClinGen Ensembl |
|
|
rs773524160 CA5725040 |
366 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA214406528 rs1037859193 |
367 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs200829242 CA5725041 |
367 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149204272 CA5725044 |
368 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 368 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5725045 rs765295997 |
369 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378598557 rs1439214652 |
369 | M>T | No |
ClinGen TOPMed |
|
|
rs1292186385 CA378598548 |
369 | M>V | No |
ClinGen TOPMed |
|
|
rs1298308905 CA378598571 |
370 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs371357459 CA5725046 |
371 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757214453 CA5725047 |
373 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5725048 rs143343705 |
374 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1218453159 CA378598691 |
375 | L>F | No |
ClinGen gnomAD |
|
|
rs750215493 CA5725049 |
375 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs374425866 CA214406549 |
376 | N>S | No |
ClinGen Ensembl |
|
|
rs375760875 CA5725050 |
377 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs779563856 CA5725051 |
378 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768203684 CA5725053 |
379 | A>P | No |
ClinGen ExAC |
|
|
CA5725054 rs201852069 |
380 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5725056 rs772535413 |
381 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 381 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378598822 rs1485937721 |
382 | F>Y | No |
ClinGen gnomAD |
|
|
CA918778783 rs1565032981 |
385 | L>R | No |
ClinGen Ensembl |
|
|
rs771393037 CA5725059 |
388 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347338300 CA378599368 |
390 | N>K | No |
ClinGen gnomAD |
|
|
CA5725083 COSM1185029 rs764340155 |
394 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1443361178 CA378599405 |
395 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5725086 rs760636566 |
396 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs577596137 CA5725088 |
396 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5725087 COSM175062 rs577596137 |
396 | T>M | Variant assessed as Somatic; 4.646e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5725091 rs376424075 |
397 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5725092 rs758050293 |
399 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264628472 CA378599444 |
400 | Y>C | No |
ClinGen gnomAD |
|
|
CA378599436 rs1181661482 |
400 | Y>H | No |
ClinGen TOPMed |
|
|
CA378599490 rs1590104495 |
403 | F>S | No |
ClinGen Ensembl |
|
|
rs913278299 CA214408223 |
404 | F>V | No |
ClinGen TOPMed |
|
|
CA214408234 rs202226362 |
405 | K>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs944605032 CA378599564 |
408 | G>E | No |
ClinGen TOPMed |
|
|
CA214408248 rs944605032 |
408 | G>V | No |
ClinGen TOPMed |
|
|
CA5725098 rs769991851 |
409 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348440529 CA378599607 |
411 | H>R | No |
ClinGen gnomAD |
|
|
CA5725099 rs775855448 |
411 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5725101 rs10887135 |
412 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs902821186 CA214408275 |
412 | D>N | No |
ClinGen TOPMed |
|
|
rs902821186 CA214408280 |
412 | D>Y | No |
ClinGen TOPMed |
|
|
rs1451025668 CA378599636 |
413 | T>I | No |
ClinGen TOPMed |
|
|
rs1054651208 CA214408303 |
414 | T>I | No |
ClinGen Ensembl |
|
|
rs1292764092 CA378599657 |
415 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 416 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378599679 rs1444707253 |
417 | S>G | No |
ClinGen gnomAD |
|
|
CA378599684 rs1409426421 |
417 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 418 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5725103 rs761762327 |
418 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA378599719 rs1394466876 |
419 | Y>* | No |
ClinGen TOPMed |
|
|
CA378599729 rs1375517312 |
420 | M>T | No |
ClinGen gnomAD |
|
|
CA378575714 rs1169835847 |
422 | R>I | No |
ClinGen gnomAD |
|
|
rs150944464 CA5725128 |
423 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 426 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762695114 CA5725129 |
427 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5725130 rs763756504 |
428 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA378575758 rs1390133338 |
429 | E>K | No |
ClinGen TOPMed |
|
|
CA378575785 rs1416526037 |
431 | P>T | No |
ClinGen gnomAD |
|
|
CA378575801 rs1313271551 |
432 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs139618575 CA378575815 |
433 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749931706 CA5725134 |
433 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5725135 rs139618575 |
433 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750455839 CA5725136 |
435 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001364113 CA378575844 |
436 | E>K | No |
ClinGen TOPMed |
|
|
rs1001364113 CA214374034 |
436 | E>Q | No |
ClinGen TOPMed |
|
|
CA214374038 rs149310921 |
438 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1212145552 CA378575886 |
438 | N>S | No |
ClinGen gnomAD |
|
|
rs1048347 CA378575893 |
439 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748385859 CA5725140 |
439 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5725141 rs1048347 VAR_027072 |
439 | H>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA378575892 rs1048347 |
439 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5725143 rs200306295 |
440 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1451236922 CA378575907 |
441 | S>G | No |
ClinGen TOPMed |
|
|
CA5725145 rs775355244 |
442 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs775355244 CA378575920 |
442 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5725146 rs762748086 |
443 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768369884 CA5725147 |
443 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5725149 rs143717019 |
444 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5725148 rs143717019 |
444 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1320040555 CA378575948 |
445 | A>T | No |
ClinGen gnomAD |
|
|
CA5725151 rs199707536 |
446 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760217326 CA5725152 |
446 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760217326 CA378575974 |
446 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760217326 CA378575972 |
446 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755538728 CA5725155 |
450 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs984244456 CA214374158 |
451 | E>G | No |
ClinGen gnomAD |
|
|
CA5725157 rs753084628 |
453 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs964219315 CA214374178 |
453 | R>K | No |
ClinGen Ensembl |
|
|
rs976874636 CA214374190 |
456 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA214374188 rs976874636 |
456 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs73363991 CA5725161 |
459 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378576110 rs1454727184 |
459 | D>Y | No |
ClinGen gnomAD |
|
|
rs184112208 COSM683031 CA378576122 |
460 | G>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs184112208 CA5725162 |
460 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5725165 rs768564405 |
462 | W>C | No |
ClinGen ExAC |
|
|
rs1225867753 CA378576169 |
463 | Q>R | No |
ClinGen TOPMed |
|
|
CA378576189 rs1286252916 |
464 | E>D | No |
ClinGen gnomAD |
|
|
rs78626594 CA5725167 |
464 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1385318837 CA378576181 |
464 | E>Q | No |
ClinGen gnomAD |
|
|
rs1590106406 CA378576192 |
465 | F>V | No |
ClinGen Ensembl |
|
|
rs1245225891 CA378576200 |
466 | R>G | No |
ClinGen TOPMed |
|
|
CA378576202 rs1396197063 |
466 | R>K | No |
ClinGen gnomAD |
|
|
rs772866024 CA5725169 |
469 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs772866024 CA5725170 |
469 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs149843204 CA5725171 |
470 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378576273 rs10510108 |
472 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_027073 CA5725173 rs10510108 |
472 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA214374317 rs966539606 |
473 | K>R | No |
ClinGen TOPMed |
|
|
rs765744030 CA5725174 |
475 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA378576387 rs372322671 |
477 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5725175 rs372322671 |
477 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375801884 CA5725176 |
478 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141730095 CA5725178 |
479 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1417244505 CA378576449 |
480 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA378576538 rs1423761478 |
484 | H>R | No |
ClinGen TOPMed |
|
|
rs146965861 CA5725199 |
485 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5725200 rs762066302 |
489 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212163983 CA378576975 |
490 | T>I | No |
ClinGen TOPMed |
|
|
rs767692515 CA5725201 |
492 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs778724508 CA5725204 |
495 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA5725205 rs752749300 |
496 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199925044 CA214375906 |
496 | Y>H | No |
ClinGen Ensembl |
|
|
CA214375941 rs913807193 |
497 | V>I | No |
ClinGen Ensembl |
|
|
rs1281081719 CA378577030 |
499 | F>C | No |
ClinGen gnomAD |
|
|
rs758257521 CA5725207 |
500 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378577058 rs1263725988 |
503 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5725210 rs770737505 |
503 | F>S | No |
ClinGen ExAC |
|
|
rs1208552641 CA378577065 |
504 | P>L | No |
ClinGen gnomAD |
|
|
CA5725211 rs138001324 |
506 | S>C | No |
ClinGen ESP ExAC gnomAD |
No associated diseases with Q32M84
5 regional properties for Q32M84
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 139 - 328 | IPR000008-1 |
| domain | C2 domain | 973 - 1099 | IPR000008-2 |
| domain | MUN domain | 659 - 937 | IPR010439 |
| domain | Munc13 homology 1 | 626 - 747 | IPR014770 |
| domain | Mammalian uncoordinated homology 13, domain 2 | 851 - 959 | IPR014772 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIMSNTHKAR | LERRVTGSTN | RWRLPKQPFS | GDLLSLSQMC | KALSIDFEEA | LRNPDRLCIS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QIQKFFFENF | KNKDIQSGEA | DVILECLGFK | WELHQPQLFQ | SETLAKLYLK | ALAQGTTHPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RELEELLRAQ | SPKKTKEKSP | AKRIIISLKI | NDPLVTKVAF | ATALKNLYMS | EVEINLEDLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GVLASAHILQ | FSGLFQRCVD | VMIARLKPST | IKKFYEAGCK | YKEEQLTTGC | EKWLEMNLVP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LGGTQIHLHK | IPQDLLHKVL | KSPRLFTFSE | FHLLKTMLLW | VFLQLNYKIQ | AIPTYETVMT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FFKSFPENCC | FLDRDIGRSL | RPLFLCLRLH | GITKGKDLEV | LRHLNFFPES | WLDQVTVNHY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HALENGGDMV | HLKDLNTQAV | RFGLLFNQEN | TTYSKTIALY | GFFFKIKGLK | HDTTSYSFYM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QRIKHTDLES | PSAVYEHNHV | SLRAARLVKY | EIRAEALVDG | KWQEFRTNQI | KQKFGLTTSS |
| 490 | 500 | ||||
| CKSHTLKIQT | VGIPIYVSFA | FIFPAS |