Q3MIX3
SS
Gene name |
ADCK5 |
Protein name |
Uncharacterized aarF domain-containing protein kinase 5 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:203054 |
EC number |
|
Protein Class |
|
Descriptions
The function of ADCK5 is not yet clear. A similar protein, COQ8A, is autoinhibited by the intramolecular interaction between N-terminal region containing KxGQ motif and catalytic domain. The KxGQ motif in ADCK5 may also occlude the substrate binding site of the kinase domain.
Autoinhibitory domains (AIDs)
Target domain |
169-409 (ADCK-like domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q3MIX3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q3MIX3-F1 | Predicted | AlphaFoldDB |
998 variants for Q3MIX3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1427681007 | 3 | R>P | No | TOPMed | |
|
CA372631842 rs1427681007 |
3 | R>P | No |
ClinGen TOPMed |
|
| rs1471386881 | 4 | P>Q | No | TOPMed | |
|
CA372631854 rs1471386881 |
4 | P>Q | No |
ClinGen TOPMed |
|
| rs1471386881 | 4 | P>R | No | TOPMed | |
|
CA372631855 rs1471386881 |
4 | P>R | No |
ClinGen TOPMed |
|
|
CA4938514 rs782392323 |
5 | V>L | No |
ClinGen ExAC gnomAD |
|
| rs782392323 | 5 | V>L | No |
ExAC gnomAD |
|
|
rs781981788 CA4938515 |
6 | Q>R | No |
ClinGen ExAC gnomAD |
|
| rs781981788 | 6 | Q>R | No |
ExAC gnomAD |
|
| rs1554857688 | 8 | C>Y | No | gnomAD | |
|
CA372632669 rs1554857688 |
8 | C>Y | No |
ClinGen gnomAD |
|
| rs556942945 | 9 | H>L | No |
1000Genomes ExAC gnomAD |
|
|
rs556942945 CA372632678 |
9 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs556942945 CA4938516 |
9 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs556942945 | 9 | H>P | No |
1000Genomes ExAC gnomAD |
|
|
rs556942945 CA372632677 |
9 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs556942945 | 9 | H>R | No |
1000Genomes ExAC gnomAD |
|
| rs1554857691 | 11 | H>Y | No | gnomAD | |
|
rs1554857691 CA372632691 |
11 | H>Y | No |
ClinGen gnomAD |
|
| rs1173245697 | 13 | A>S | No |
TOPMed gnomAD |
|
|
rs1173245697 CA372632705 |
13 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1173245697 CA372632703 |
13 | A>T | No |
ClinGen TOPMed gnomAD |
|
| rs1173245697 | 13 | A>T | No |
TOPMed gnomAD |
|
|
CA4938518 rs145681525 |
17 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs145681525 | 17 | S>I | No |
ESP ExAC TOPMed gnomAD |
|
|
rs145681525 CA372632729 |
17 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs145681525 | 17 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
|
CA4938517 rs782723994 |
17 | S>R | No |
ClinGen ExAC gnomAD |
|
| rs6599528 | 17 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs782723994 | 17 | S>R | No |
ExAC gnomAD |
|
|
rs6599528 VAR_029996 CA187665824 |
17 | S>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA372632730 rs145681525 |
17 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs145681525 | 17 | S>T | No |
ESP ExAC TOPMed gnomAD |
|
|
rs1254258577 CA372632743 |
19 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| rs1254258577 | 19 | Q>R | No |
TOPMed gnomAD |
|
| rs782813225 | 21 | P>T | No |
ExAC gnomAD |
|
|
CA4938520 rs782813225 |
21 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA372632766 rs1176259821 |
22 | W>* | No |
ClinGen TOPMed |
|
| rs1176259821 | 22 | W>* | No | TOPMed | |
| rs1554857705 | 22 | W>R | No | gnomAD | |
|
CA372632760 rs1554857705 |
22 | W>R | No |
ClinGen gnomAD |
|
| rs1554857705 | 22 | W>R | No | gnomAD | |
|
CA372632761 rs1554857705 |
22 | W>R | No |
ClinGen gnomAD |
|
|
rs551600122 CA4938521 |
23 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs551600122 | 23 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA4938522 rs551600122 |
23 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs551600122 | 23 | P>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs910072985 | 24 | S>F | No |
TOPMed gnomAD |
|
|
rs910072985 CA372632776 |
24 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA187665847 rs910072985 |
24 | S>Y | No |
ClinGen TOPMed gnomAD |
|
| rs910072985 | 24 | S>Y | No |
TOPMed gnomAD |
|
| rs782456416 | 26 | A>P | No |
ExAC gnomAD |
|
|
CA4938525 rs782456416 |
26 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1206591936 CA372632794 |
27 | V>G | No |
ClinGen TOPMed gnomAD |
|
| rs1206591936 | 27 | V>G | No |
TOPMed gnomAD |
|
| rs1235249705 | 30 | R>S | No | TOPMed | |
|
rs1235249705 CA372632816 |
30 | R>S | No |
ClinGen TOPMed |
|
| rs782287690 | 31 | R>G | No |
ExAC gnomAD |
|
|
rs782287690 CA4938528 |
31 | R>G | No |
ClinGen ExAC gnomAD |
|
| rs961634883 | 32 | N>S | No | Ensembl | |
|
CA187665867 rs961634883 |
32 | N>S | No |
ClinGen Ensembl |
|
| rs782400800 | 32 | N>Y | No |
ExAC gnomAD |
|
|
rs782400800 CA4938529 |
32 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs149682358 CA4938531 |
33 | V>I | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
| rs149682358 | 33 | V>I | No |
1000Genomes ESP ExAC gnomAD |
|
| rs781952279 | 35 | G>D | No |
ExAC TOPMed gnomAD |
|
|
rs781952279 CA4938533 |
35 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs369601211 | 35 | G>S | No |
ESP ExAC |
|
|
rs369601211 CA4938532 |
35 | G>S | No |
ClinGen ESP ExAC |
|
| rs782426516 | 36 | L>I | No |
ExAC gnomAD |
|
|
rs782426516 CA4938535 |
36 | L>I | No |
ClinGen ExAC gnomAD |
|
| rs782426516 | 36 | L>V | No |
ExAC gnomAD |
|
|
CA4938536 rs782426516 |
36 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs782060730 CA187667168 |
39 | R>S | No |
ClinGen gnomAD |
|
| rs782060730 | 39 | R>S | No | gnomAD | |
| rs1554858612 | 41 | S>F | No | gnomAD | |
|
CA372633037 rs1554858612 |
41 | S>F | No |
ClinGen gnomAD |
|
| rs970672558 | 44 | T>I | No |
TOPMed gnomAD |
|
|
CA372633069 rs970672558 |
44 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA187667171 rs970672558 |
44 | T>K | No |
ClinGen TOPMed gnomAD |
|
| rs970672558 | 44 | T>K | No |
TOPMed gnomAD |
|
| rs782012182 | 45 | P>A | No |
ExAC gnomAD |
|
|
rs782012182 CA4938562 |
45 | P>A | No |
ClinGen ExAC gnomAD |
|
| rs1186341827 | 45 | P>H | No | TOPMed | |
|
rs1186341827 CA372633077 |
45 | P>H | No |
ClinGen TOPMed |
|
| rs782127102 | 48 | R>S | No |
ExAC gnomAD |
|
|
CA4938563 rs782127102 |
48 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs782747631 CA4938564 |
49 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782747631 | 49 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1554858619 | 50 | V>M | No | gnomAD | |
|
CA372633126 rs1554858619 |
50 | V>M | No |
ClinGen gnomAD |
|
| rs1263533204 | 53 | T>A | No | TOPMed | |
|
CA372633152 rs1263533204 |
53 | T>A | No |
ClinGen TOPMed |
|
| rs373751246 | 53 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
|
CA4938565 rs373751246 |
53 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222242540 CA372633160 |
54 | A>T | No |
ClinGen TOPMed gnomAD |
|
| rs1222242540 | 54 | A>T | No |
TOPMed gnomAD |
|
| rs781787530 | 54 | A>V | No |
ExAC TOPMed gnomAD |
|
|
rs781787530 CA4938568 |
54 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs989266141 CA187667202 |
56 | V>A | No |
ClinGen Ensembl |
|
| rs989266141 | 56 | V>A | No | Ensembl | |
| rs542022535 | 58 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs542022535 CA4938570 |
58 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1042321502 | 61 | L>F | No | Ensembl | |
|
CA187667208 rs1042321502 |
61 | L>F | No |
ClinGen Ensembl |
|
|
rs782600324 CA4938573 |
62 | L>F | No |
ClinGen ExAC gnomAD |
|
| rs782600324 | 62 | L>F | No |
ExAC gnomAD |
|
| rs782782811 | 65 | R>C | No |
ExAC TOPMed gnomAD |
|
|
rs782782811 CA4938575 |
65 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4938576 rs782038841 |
65 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782038841 | 65 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs933607862 | 66 | Y>C | No | Ensembl | |
|
rs933607862 CA187667223 |
66 | Y>C | No |
ClinGen Ensembl |
|
|
rs1554858641 CA372633275 |
67 | V>L | No |
ClinGen gnomAD |
|
| rs1554858641 | 67 | V>L | No | gnomAD | |
| rs782274795 | 68 | M>I | No |
ExAC gnomAD |
|
|
CA4938577 rs782274795 |
68 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4938579 rs376959340 |
71 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs376959340 | 71 | A>E | No |
ESP ExAC TOPMed gnomAD |
|
|
rs782385855 CA4938578 |
71 | A>T | No |
ClinGen ExAC gnomAD |
|
| rs782385855 | 71 | A>T | No |
ExAC gnomAD |
|
| rs782744529 | 72 | R>L | No |
ExAC TOPMed gnomAD |
|
|
CA372633317 rs782744529 |
72 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782744529 | 72 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
rs782744529 CA4938581 |
72 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs369954772 | 72 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4938580 rs369954772 |
72 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4938582 rs781932612 |
76 | R>T | No |
ClinGen ExAC gnomAD |
|
| rs781932612 | 76 | R>T | No |
ExAC gnomAD |
|
| rs141085129 | 78 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
|
rs141085129 CA4938584 |
78 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs782047392 | 78 | R>W | No |
ExAC TOPMed gnomAD |
|
|
rs782047392 CA4938583 |
78 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs144883115 | 79 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
|
CA4938585 rs144883115 |
79 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs546211953 | 80 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA4938587 rs546211953 |
80 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4938586 rs546211953 |
80 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs546211953 | 80 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs546211953 | 80 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs546211953 CA372633371 |
80 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1554858668 | 81 | V>A | No | gnomAD | |
|
CA372633384 rs1554858668 |
81 | V>A | No |
ClinGen gnomAD |
|
| rs1554858668 | 81 | V>G | No | gnomAD | |
|
rs1554858668 CA372633382 |
81 | V>G | No |
ClinGen gnomAD |
|
|
rs1554858665 CA372633377 |
81 | V>M | No |
ClinGen gnomAD |
|
| rs1554858665 | 81 | V>M | No | gnomAD | |
| rs1554858669 | 82 | D>Y | No | gnomAD | |
|
rs1554858669 CA372633387 |
82 | D>Y | No |
ClinGen gnomAD |
|
| rs1554858673 | 86 | R>C | No | gnomAD | |
|
CA372633433 rs1554858673 |
86 | R>C | No |
ClinGen gnomAD |
|
|
rs1554858674 CA372633434 |
86 | R>H | No |
ClinGen gnomAD |
|
| rs1554858674 | 86 | R>H | No | gnomAD | |
|
rs560973535 CA4938631 |
94 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs560973535 | 94 | G>S | No |
1000Genomes ExAC gnomAD |
|
| rs148075370 | 96 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
|
rs148075370 CA4938633 |
96 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1447371529 | 103 | W>S | No | TOPMed | |
|
rs1447371529 CA372634515 |
103 | W>S | No |
ClinGen TOPMed |
|
| rs782193011 | 104 | C>Y | No |
ExAC gnomAD |
|
|
CA4938636 rs782193011 |
104 | C>Y | No |
ClinGen ExAC gnomAD |
|
| rs782447125 | 105 | T>I | No |
ExAC gnomAD |
|
|
rs782447125 CA4938637 |
105 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs549893722 CA187670858 |
106 | N>K | No |
ClinGen 1000Genomes |
|
| rs549893722 | 106 | N>K | No | 1000Genomes | |
|
CA372634549 rs1378984660 |
106 | N>S | No |
ClinGen TOPMed gnomAD |
|
| rs1378984660 | 106 | N>S | No |
TOPMed gnomAD |
|
| rs782285425 | 108 | V>A | No |
ExAC gnomAD |
|
|
CA4938639 rs782285425 |
108 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs782398356 CA4938640 |
110 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782398356 | 110 | R>* | No |
ExAC TOPMed gnomAD |
|
|
CA372634581 rs1395222560 |
110 | R>Q | No |
ClinGen TOPMed |
|
| rs1395222560 | 110 | R>Q | No | TOPMed | |
| rs571243432 | 111 | G>A | No |
1000Genomes ExAC gnomAD |
|
|
rs571243432 CA4938641 |
111 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4938642 rs782222826 |
112 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782222826 | 112 | V>E | No |
ExAC TOPMed gnomAD |
|
| rs1402650380 | 112 | V>L | No | TOPMed | |
|
rs1402650380 CA372634593 |
112 | V>L | No |
ClinGen TOPMed |
|
| rs1402650380 | 112 | V>M | No | TOPMed | |
|
rs1402650380 COSM3834276 CA372634592 |
112 | V>M | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| rs772772352 | 113 | E>K | No |
ExAC TOPMed gnomAD |
|
|
CA4938644 rs772772352 |
113 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782811188 CA4938646 |
114 | E>D | No |
ClinGen ExAC gnomAD |
|
| rs782811188 | 114 | E>D | No |
ExAC gnomAD |
|
|
rs782044294 CA4938645 |
114 | E>Q | No |
ClinGen ExAC gnomAD |
|
| rs782044294 | 114 | E>Q | No |
ExAC gnomAD |
|
|
CA4938664 rs782276754 |
116 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782276754 | 116 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs782388246 | 116 | S>I | No |
ExAC gnomAD |
|
|
rs782388246 CA372634673 |
116 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs782388246 CA4938665 |
116 | S>N | No |
ClinGen ExAC gnomAD |
|
| rs782388246 | 116 | S>N | No |
ExAC gnomAD |
|
| rs782088343 | 117 | P>L | No |
ExAC TOPMed gnomAD |
|
|
CA4938667 rs782088343 |
117 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781969865 CA4938666 |
117 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs781969865 | 117 | P>S | No |
ExAC gnomAD |
|
|
CA4938668 rs148583297 |
118 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs148583297 | 118 | G>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs148583297 | 118 | G>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4938669 rs148583297 |
118 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372634775 rs1554860284 |
121 | E>K | No |
ClinGen gnomAD |
|
| rs1554860284 | 121 | E>K | No | gnomAD | |
|
rs782813437 CA4938672 |
125 | A>V | No |
ClinGen ExAC gnomAD |
|
| rs782813437 | 125 | A>V | No |
ExAC gnomAD |
|
| rs1473422562 | 126 | C>Y | No | TOPMed | |
|
rs1473422562 CA372634875 |
126 | C>Y | No |
ClinGen TOPMed |
|
| rs1586594831 | 127 | H>P | No | Ensembl | |
|
rs1586594831 CA372634895 |
127 | H>P | No |
ClinGen Ensembl |
|
|
rs782122488 CA4938674 |
130 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782122488 | 130 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs782122488 | 130 | A>V | No |
ExAC TOPMed gnomAD |
|
|
rs782122488 CA372634957 |
130 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586594864 CA372635036 |
135 | V>G | No |
ClinGen Ensembl |
|
| rs1586594864 | 135 | V>G | No | Ensembl | |
|
CA372635022 rs1554860302 |
135 | V>M | No |
ClinGen gnomAD |
|
| rs1554860302 | 135 | V>M | No | gnomAD | |
| rs1554860303 | 136 | A>S | No | gnomAD | |
|
rs1554860303 CA372635046 |
136 | A>S | No |
ClinGen gnomAD |
|
|
rs1554860306 CA372635053 |
136 | A>V | No |
ClinGen gnomAD |
|
| rs1554860306 | 136 | A>V | No | gnomAD | |
| rs1216971850 | 139 | I>T | No | TOPMed | |
|
rs1216971850 CA372635097 |
139 | I>T | No |
ClinGen TOPMed |
|
|
CA4938677 rs782449120 |
139 | I>V | No |
ClinGen ExAC gnomAD |
|
| rs782449120 | 139 | I>V | No |
ExAC gnomAD |
|
| rs1356928414 | 146 | V>L | No |
TOPMed gnomAD |
|
|
rs1356928414 CA372635201 |
146 | V>L | No |
ClinGen TOPMed gnomAD |
|
| rs1356928414 | 146 | V>M | No |
TOPMed gnomAD |
|
|
rs1356928414 CA372635197 |
146 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA372635227 rs1554860325 |
148 | L>P | No |
ClinGen gnomAD |
|
| rs1554860325 | 148 | L>P | No | gnomAD | |
| rs1216558051 | 151 | G>E | No | TOPMed | |
|
COSM1313857 CA372635253 rs1216558051 |
151 | G>E | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| rs1586594951 | 153 | C>G | No | Ensembl | |
|
rs1586594951 CA372635276 |
153 | C>G | No |
ClinGen Ensembl |
|
| rs782787009 | 156 | N>K | No | gnomAD | |
|
CA187671013 rs782787009 |
156 | N>K | No |
ClinGen gnomAD |
|
| rs781903388 | 156 | N>S | No |
ExAC TOPMed gnomAD |
|
|
rs781903388 CA4938680 |
156 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586594990 CA372635445 |
162 | E>A | No |
ClinGen Ensembl |
|
| rs1586594990 | 162 | E>A | No | Ensembl | |
|
CA4938683 COSM1097219 rs370821655 |
162 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| rs370821655 | 162 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
|
CA187671022 rs76866583 |
164 | T>N | No |
ClinGen Ensembl |
|
| rs76866583 | 164 | T>N | No | Ensembl | |
|
CA4938685 rs556660351 |
165 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs556660351 | 165 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs537850893 | 165 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs537850893 CA4938684 |
165 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs782590743 | 166 | T>I | No |
ExAC gnomAD |
|
|
CA4938686 rs782590743 |
166 | T>I | No |
ClinGen ExAC gnomAD |
|
| rs577667370 | 168 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs577667370 CA4938690 |
168 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577667370 CA4938691 |
168 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs577667370 | 168 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs544823046 CA4938692 |
168 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs544823046 | 168 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs143148314 CA4938694 |
169 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs143148314 | 169 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs781784683 | 174 | A>S | No |
ExAC gnomAD |
|
|
rs781784683 CA4938695 |
174 | A>S | No |
ClinGen ExAC gnomAD |
|
| rs922058100 | 174 | A>V | No | gnomAD | |
|
CA187671093 rs922058100 |
174 | A>V | No |
ClinGen gnomAD |
|
| rs781865438 | 177 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
CA4938698 rs781865438 |
177 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4938697 rs142025248 |
177 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs142025248 | 177 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372635686 rs1564675987 |
180 | Q>* | No |
ClinGen Ensembl |
|
| rs1564675987 | 180 | Q>* | No | Ensembl | |
| rs908107075 | 180 | Q>R | No | Ensembl | |
|
CA187671101 rs908107075 |
180 | Q>R | No |
ClinGen Ensembl |
|
| rs1554860403 | 187 | L>F | No | gnomAD | |
|
CA372635882 rs1554860403 |
187 | L>F | No |
ClinGen gnomAD |
|
| rs782788015 | 192 | A>P | No |
ExAC gnomAD |
|
|
CA4938722 rs782788015 |
192 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs782788015 CA372635978 |
192 | A>T | No |
ClinGen ExAC gnomAD |
|
| rs782788015 | 192 | A>T | No |
ExAC gnomAD |
|
| rs1478033862 | 192 | A>V | No | TOPMed | |
|
rs1478033862 CA372635990 |
192 | A>V | No |
ClinGen TOPMed |
|
|
CA372635999 rs1586595369 |
193 | L>P | No |
ClinGen Ensembl |
|
| rs1586595369 | 193 | L>P | No | Ensembl | |
|
CA372636027 rs782587295 |
195 | H>D | No |
ClinGen ExAC gnomAD |
|
| rs782587295 | 195 | H>D | No |
ExAC gnomAD |
|
|
rs1019245183 CA187671275 |
195 | H>Q | No |
ClinGen TOPMed gnomAD |
|
| rs1019245183 | 195 | H>Q | No |
TOPMed gnomAD |
|
| rs782587295 | 195 | H>Y | No |
ExAC gnomAD |
|
|
rs782587295 CA4938725 |
195 | H>Y | No |
ClinGen ExAC gnomAD |
|
| rs1554860410 | 196 | E>K | No | gnomAD | |
|
rs1554860410 CA372636041 |
196 | E>K | No |
ClinGen gnomAD |
|
| rs782187937 | 197 | L>I | No |
ExAC gnomAD |
|
|
CA4938726 rs782187937 |
197 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1586595424 CA372636134 |
200 | E>D | No |
ClinGen Ensembl |
|
| rs1586595424 | 200 | E>D | No | Ensembl | |
| rs1586595420 | 200 | E>G | No | Ensembl | |
|
CA372636125 rs1586595420 |
200 | E>G | No |
ClinGen Ensembl |
|
| rs782676154 | 201 | F>S | No |
ExAC gnomAD |
|
|
CA4938728 rs782676154 |
201 | F>S | No |
ClinGen ExAC gnomAD |
|
| rs1586595443 | 202 | D>A | No | Ensembl | |
|
rs1586595443 CA372636164 |
202 | D>A | No |
ClinGen Ensembl |
|
| rs1564676153 | 203 | Y>* | No | Ensembl | |
|
rs1564676153 CA372636185 |
203 | Y>* | No |
ClinGen Ensembl |
|
| rs1586595461 | 203 | Y>S | No | Ensembl | |
|
rs1586595461 CA372636183 |
203 | Y>S | No |
ClinGen Ensembl |
|
| rs782388965 | 206 | I>V | No |
ExAC TOPMed gnomAD |
|
|
CA4938730 rs782388965 |
206 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782326879 CA4938733 |
209 | A>T | No |
ClinGen ExAC gnomAD |
|
| rs782326879 | 209 | A>T | No |
ExAC gnomAD |
|
|
rs1554860421 CA372636265 |
210 | S>T | No |
ClinGen Ensembl |
|
| rs1554860421 | 210 | S>T | No | Ensembl | |
|
CA4938736 rs191793904 |
216 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs191793904 | 216 | R>K | No |
1000Genomes ExAC gnomAD |
|
|
CA4938737 rs782007740 |
218 | K>N | No |
ClinGen ExAC gnomAD |
|
| rs782007740 | 218 | K>N | No |
ExAC gnomAD |
|
|
rs781829880 CA4938740 |
220 | H>R | No |
ClinGen ExAC gnomAD |
|
| rs781829880 | 220 | H>R | No |
ExAC gnomAD |
|
| rs1554860430 | 220 | H>Y | No | gnomAD | |
|
CA372636426 rs1554860430 |
220 | H>Y | No |
ClinGen gnomAD |
|
|
CA4938742 rs782698813 |
221 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782698813 | 221 | D>N | No |
ExAC TOPMed gnomAD |
|
|
rs1554860437 CA372636481 |
223 | T>I | No |
ClinGen gnomAD |
|
| rs1554860437 | 223 | T>I | No | gnomAD | |
|
CA372636516 rs1554860441 |
225 | V>M | No |
ClinGen gnomAD |
|
| rs1554860441 | 225 | V>M | No | gnomAD | |
|
CA372636582 rs1586595601 |
227 | V>G | No |
ClinGen Ensembl |
|
| rs1586595601 | 227 | V>G | No | Ensembl | |
|
rs781851394 CA4938746 |
227 | V>M | No |
ClinGen ExAC gnomAD |
|
| rs781851394 | 227 | V>M | No |
ExAC gnomAD |
|
| rs1378842603 | 232 | I>L | No |
TOPMed gnomAD |
|
|
rs1378842603 CA372636792 |
232 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372636796 rs1378842603 |
232 | I>V | No |
ClinGen TOPMed gnomAD |
|
| rs1378842603 | 232 | I>V | No |
TOPMed gnomAD |
|
|
rs1586596027 CA372636833 |
233 | D>E | No |
ClinGen Ensembl |
|
| rs1586596027 | 233 | D>E | No | Ensembl | |
| rs1417049920 | 233 | D>N | No |
TOPMed gnomAD |
|
|
CA372636816 rs1417049920 |
233 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs567855449 CA4938769 |
235 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs567855449 | 235 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1554860503 | 235 | R>W | No | gnomAD | |
|
CA372636848 rs1554860503 |
235 | R>W | No |
ClinGen gnomAD |
|
|
rs782665670 CA4938770 |
237 | R>C | No |
ClinGen ExAC gnomAD |
|
| rs782665670 | 237 | R>C | No |
ExAC gnomAD |
|
|
COSM1097221 rs782231379 CA4938771 |
237 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| rs782231379 | 237 | R>H | No |
ExAC gnomAD |
|
| rs782351259 | 238 | F>S | No |
ExAC gnomAD |
|
|
rs782351259 CA4938772 |
238 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA372636948 rs1418555814 |
240 | G>R | No |
ClinGen TOPMed |
|
| rs1418555814 | 240 | G>R | No | TOPMed | |
| rs782175889 | 242 | I>M | No |
ExAC gnomAD |
|
|
rs782175889 CA4938774 |
242 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA372637000 rs1554860516 |
242 | I>T | No |
ClinGen gnomAD |
|
| rs1554860516 | 242 | I>T | No | gnomAD | |
|
rs1586596065 CA372636988 |
242 | I>V | No |
ClinGen Ensembl |
|
| rs1586596065 | 242 | I>V | No | Ensembl | |
|
CA372637046 rs782411747 |
244 | T>I | No |
ClinGen ExAC gnomAD |
|
| rs782411747 | 244 | T>I | No |
ExAC gnomAD |
|
|
CA4938775 rs782411747 |
244 | T>N | No |
ClinGen ExAC gnomAD |
|
| rs782411747 | 244 | T>N | No |
ExAC gnomAD |
|
| rs1586596085 | 244 | T>P | No | Ensembl | |
|
CA372637031 rs1586596085 |
244 | T>P | No |
ClinGen Ensembl |
|
| rs1360609781 | 245 | L>V | No | TOPMed | |
|
rs1360609781 CA372637049 |
245 | L>V | No |
ClinGen TOPMed |
|
|
rs782013173 CA4938776 |
247 | L>F | No |
ClinGen ExAC gnomAD |
|
| rs782013173 | 247 | L>F | No |
ExAC gnomAD |
|
| rs782376364 | 250 | R>L | No |
ExAC TOPMed gnomAD |
|
|
CA372637158 rs782376364 |
250 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4938778 rs782376364 |
250 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782376364 | 250 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM1097223 rs1554860530 CA372637147 |
250 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| rs1554860530 | 250 | R>W | No | gnomAD | |
|
rs782713169 CA4938781 |
252 | V>I | No |
ClinGen ExAC gnomAD |
|
| rs782713169 | 252 | V>I | No |
ExAC gnomAD |
|
| rs782713169 | 252 | V>L | No |
ExAC gnomAD |
|
|
CA372637176 rs782713169 |
252 | V>L | No |
ClinGen ExAC gnomAD |
|
| rs1554860542 | 254 | V>G | No | Ensembl | |
|
rs1554860542 CA372637225 |
254 | V>G | No |
ClinGen Ensembl |
|
|
CA372637238 rs1586596187 |
255 | M>T | No |
ClinGen Ensembl |
|
| rs1586596187 | 255 | M>T | No | Ensembl | |
|
rs1554860552 CA372637288 |
257 | P>R | No |
ClinGen gnomAD |
|
| rs1554860552 | 257 | P>R | No | gnomAD | |
| rs1476099570 | 257 | P>S | No | TOPMed | |
|
rs1476099570 CA372637280 |
257 | P>S | No |
ClinGen TOPMed |
|
|
rs1554860556 CA372637296 |
258 | S>G | No |
ClinGen gnomAD |
|
| rs1554860556 | 258 | S>G | No | gnomAD | |
|
CA4938784 rs782774270 |
260 | G>D | No |
ClinGen ExAC gnomAD |
|
| rs782774270 | 260 | G>D | No |
ExAC gnomAD |
|
| rs782484812 | 261 | F>L | No |
ExAC TOPMed gnomAD |
|
|
CA4938786 rs782484812 |
261 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4938787 rs782748903 |
262 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782748903 | 262 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs782429429 | 266 | Q>* | No |
ExAC gnomAD |
|
|
rs782429429 CA4938789 |
266 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1554860625 CA372637608 |
269 | K>R | No |
ClinGen gnomAD |
|
| rs1554860625 | 269 | K>R | No | gnomAD | |
| rs1366299198 | 273 | A>T | No | TOPMed | |
|
rs1366299198 CA372637645 |
273 | A>T | No |
ClinGen TOPMed |
|
| rs962517778 | 274 | Q>* | No |
TOPMed gnomAD |
|
|
CA372637666 rs962517778 |
274 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA187671670 rs962517778 |
274 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| rs962517778 | 274 | Q>E | No |
TOPMed gnomAD |
|
| rs782607023 | 274 | Q>R | No |
ExAC gnomAD |
|
|
rs782607023 CA4938814 |
274 | Q>R | No |
ClinGen ExAC gnomAD |
|
| rs1554860640 | 276 | L>M | No | gnomAD | |
|
rs1554860640 CA372637694 |
276 | L>M | No |
ClinGen gnomAD |
|
|
rs1554860645 CA372638432 |
279 | E>K | No |
ClinGen gnomAD |
|
| rs1554860645 | 279 | E>K | No | gnomAD | |
| rs782191036 | 281 | E>D | No |
ExAC gnomAD |
|
|
rs782191036 CA4938816 |
281 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA187672150 rs782191036 |
281 | E>D | No |
ClinGen ExAC gnomAD |
|
| rs782191036 | 281 | E>D | No |
ExAC gnomAD |
|
|
CA187672151 rs782617934 |
282 | G>D | No |
ClinGen Ensembl |
|
| rs782617934 | 282 | G>D | No | Ensembl | |
|
CA4938817 rs201101725 |
283 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
| rs201101725 | 283 | R>H | No |
ESP ExAC gnomAD |
|
|
rs201101725 CA372638501 |
283 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
| rs201101725 | 283 | R>L | No |
ESP ExAC gnomAD |
|
|
CA372638512 rs1443045650 |
284 | N>D | No |
ClinGen TOPMed |
|
| rs1443045650 | 284 | N>D | No | TOPMed | |
| rs1554860652 | 285 | A>T | No | gnomAD | |
|
CA372638530 rs1554860652 |
285 | A>T | No |
ClinGen gnomAD |
|
|
CA372638547 rs1554860653 |
286 | E>V | No |
ClinGen gnomAD |
|
| rs1554860653 | 286 | E>V | No | gnomAD | |
| rs782266725 | 287 | R>C | No |
ExAC gnomAD |
|
|
rs782266725 CA4938818 |
287 | R>C | No |
ClinGen ExAC gnomAD |
|
| rs782379034 | 287 | R>H | No |
ExAC TOPMed gnomAD |
|
|
rs782379034 CA4938819 |
287 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1169661789 | 288 | C>S | No |
TOPMed gnomAD |
|
|
CA372638579 rs1169661789 |
288 | C>S | No |
ClinGen TOPMed gnomAD |
|
| rs1169661789 | 288 | C>Y | No |
TOPMed gnomAD |
|
|
CA372638578 rs1169661789 |
288 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4938820 rs781975682 |
289 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs781975682 | 289 | A>V | No |
ExAC TOPMed gnomAD |
|
|
rs1174301043 CA372638605 |
290 | R>G | No |
ClinGen TOPMed gnomAD |
|
| rs1174301043 | 290 | R>G | No |
TOPMed gnomAD |
|
| rs1432594913 | 290 | R>Q | No |
TOPMed gnomAD |
|
|
rs1432594913 CA372638609 |
290 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1174301043 CA372638606 |
290 | R>W | No |
ClinGen TOPMed gnomAD |
|
| rs1174301043 | 290 | R>W | No |
TOPMed gnomAD |
|
| rs782326417 | 291 | E>G | No |
ExAC gnomAD |
|
|
rs782326417 CA4938822 |
291 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1554860672 CA372638663 |
293 | A>V | No |
ClinGen gnomAD |
|
| rs1554860672 | 293 | A>V | No | gnomAD | |
|
rs1195994318 CA372638679 |
295 | F>I | No |
ClinGen TOPMed |
|
| rs1195994318 | 295 | F>I | No | TOPMed | |
| rs1456848736 | 297 | Y>C | No | TOPMed | |
|
rs1456848736 CA372638709 |
297 | Y>C | No |
ClinGen TOPMed |
|
|
rs781926584 CA4938823 |
297 | Y>D | No |
ClinGen ExAC gnomAD |
|
| rs781926584 | 297 | Y>D | No |
ExAC gnomAD |
|
| rs370166194 | 298 | V>F | No |
ExAC TOPMed gnomAD |
|
|
CA4938824 rs370166194 |
298 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs370166194 | 298 | V>I | No |
ExAC TOPMed gnomAD |
|
|
CA372638718 rs370166194 |
298 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs370166194 | 298 | V>L | No |
ExAC TOPMed gnomAD |
|
|
CA372638716 rs370166194 |
298 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481863673 CA372638724 |
299 | V>M | No |
ClinGen TOPMed gnomAD |
|
| rs1481863673 | 299 | V>M | No |
TOPMed gnomAD |
|
|
rs782801751 CA4938825 |
301 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782801751 | 301 | P>A | No |
ExAC TOPMed gnomAD |
|
|
CA187672184 rs980714753 |
301 | P>L | No |
ClinGen Ensembl |
|
| rs980714753 | 301 | P>L | No | Ensembl | |
|
CA372638754 rs1554860691 |
302 | R>C | No |
ClinGen gnomAD |
|
| rs1554860691 | 302 | R>C | No | gnomAD | |
|
rs925299108 CA187672185 |
302 | R>H | No |
ClinGen TOPMed gnomAD |
|
| rs925299108 | 302 | R>H | No |
TOPMed gnomAD |
|
|
rs1554860698 CA372638762 |
303 | V>L | No |
ClinGen gnomAD |
|
| rs1554860698 | 303 | V>L | No | gnomAD | |
| rs1554860698 | 303 | V>M | No | gnomAD | |
|
rs1554860698 CA372638763 |
303 | V>M | No |
ClinGen gnomAD |
|
| rs1554860701 | 305 | W>* | No | gnomAD | |
|
rs1554860701 CA372638794 |
305 | W>* | No |
ClinGen gnomAD |
|
| rs1235912767 | 306 | D>E | No | TOPMed | |
|
CA372638812 rs1235912767 |
306 | D>E | No |
ClinGen TOPMed |
|
|
rs1554860710 CA372638842 |
309 | S>N | No |
ClinGen gnomAD |
|
| rs1554860710 | 309 | S>N | No | gnomAD | |
| rs1554860712 | 309 | S>R | No | gnomAD | |
|
CA372638847 rs1554860712 |
309 | S>R | No |
ClinGen gnomAD |
|
| rs1554860747 | 311 | R>C | No | gnomAD | |
|
CA372638892 rs1554860747 |
311 | R>C | No |
ClinGen gnomAD |
|
| rs868907233 | 311 | R>H | No | TOPMed | |
|
rs868907233 CA372638897 |
311 | R>H | No |
ClinGen TOPMed |
|
| rs868907233 | 311 | R>P | No | TOPMed | |
|
CA372638899 rs868907233 |
311 | R>P | No |
ClinGen TOPMed |
|
| rs372024693 | 315 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
|
CA4938837 rs372024693 |
315 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs782650117 | 316 | D>E | No |
ExAC gnomAD |
|
|
CA187672256 rs782650117 |
316 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA372638969 rs1554860761 |
317 | F>L | No |
ClinGen gnomAD |
|
| rs1554860761 | 317 | F>L | No | gnomAD | |
| rs1554860760 | 317 | F>Y | No | gnomAD | |
|
rs1554860760 CA372638963 |
317 | F>Y | No |
ClinGen gnomAD |
|
|
rs1239694125 CA372638984 |
319 | A>T | No |
ClinGen TOPMed gnomAD |
|
| rs1239694125 | 319 | A>T | No |
TOPMed gnomAD |
|
| rs782252525 | 320 | G>A | No |
ExAC gnomAD |
|
|
CA4938841 rs782252525 |
320 | G>A | No |
ClinGen ExAC gnomAD |
|
| rs1337257231 | 320 | G>S | No |
TOPMed gnomAD |
|
|
CA372638992 rs1337257231 |
320 | G>S | No |
ClinGen TOPMed gnomAD |
|
| rs1310348942 | 321 | C>W | No |
TOPMed gnomAD |
|
|
CA372639007 rs1310348942 |
321 | C>W | No |
ClinGen TOPMed gnomAD |
|
| rs1554860772 | 324 | N>D | No | gnomAD | |
|
rs1554860772 CA372639026 |
324 | N>D | No |
ClinGen gnomAD |
|
| rs199991427 | 324 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM99007 CA4938842 rs199991427 |
324 | N>S | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| rs1417867706 | 328 | A>T | No |
TOPMed gnomAD |
|
|
rs1417867706 CA372639054 |
328 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA187672294 rs1026624607 |
329 | I>F | No |
ClinGen Ensembl |
|
| rs1026624607 | 329 | I>F | No | Ensembl | |
|
CA372639066 rs1159606161 |
330 | R>G | No |
ClinGen TOPMed gnomAD |
|
| rs1159606161 | 330 | R>G | No |
TOPMed gnomAD |
|
| rs543428878 | 331 | S>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs543428878 CA4938843 |
331 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1367280077 | 332 | Q>* | No |
TOPMed gnomAD |
|
|
rs1367280077 CA372639082 |
332 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA372639081 rs1367280077 |
332 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| rs1367280077 | 332 | Q>E | No |
TOPMed gnomAD |
|
|
CA187672300 rs564840942 |
332 | Q>R | No |
ClinGen 1000Genomes |
|
| rs564840942 | 332 | Q>R | No | 1000Genomes | |
|
CA372639090 rs1187260888 |
333 | G>E | No |
ClinGen TOPMed gnomAD |
|
| rs1187260888 | 333 | G>E | No |
TOPMed gnomAD |
|
|
CA4938844 rs782081313 |
335 | A>G | No |
ClinGen ExAC gnomAD |
|
| rs782081313 | 335 | A>G | No |
ExAC gnomAD |
|
|
rs782081313 CA4938845 |
335 | A>V | No |
ClinGen ExAC gnomAD |
|
| rs782081313 | 335 | A>V | No |
ExAC gnomAD |
|
|
CA372639106 rs1554860788 |
336 | V>A | No |
ClinGen gnomAD |
|
| rs1554860788 | 336 | V>A | No | gnomAD | |
| rs781920182 | 337 | H>Y | No |
ExAC gnomAD |
|
|
rs781920182 CA4938846 |
337 | H>Y | No |
ClinGen ExAC gnomAD |
|
| rs980997052 | 339 | I>T | No | Ensembl | |
|
rs980997052 CA187672487 |
339 | I>T | No |
ClinGen Ensembl |
|
| rs782683304 | 339 | I>V | No |
ExAC TOPMed gnomAD |
|
|
rs782683304 CA4938882 |
339 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4938883 rs782280570 |
340 | A>V | No |
ClinGen ExAC gnomAD |
|
| rs782280570 | 340 | A>V | No |
ExAC gnomAD |
|
|
rs925248579 CA187672495 |
342 | K>M | No |
ClinGen Ensembl |
|
| rs925248579 | 342 | K>M | No | Ensembl | |
| rs1432978096 | 343 | L>P | No | TOPMed | |
|
rs1432978096 CA372639290 |
343 | L>P | No |
ClinGen TOPMed |
|
|
rs1554860865 CA372639311 |
345 | K>E | No |
ClinGen gnomAD |
|
| rs1554860865 | 345 | K>E | No | gnomAD | |
| rs1554860868 | 346 | A>T | No | gnomAD | |
|
rs1554860868 CA372639331 |
346 | A>T | No |
ClinGen gnomAD |
|
| rs531875170 | 351 | I>L | No |
1000Genomes ExAC gnomAD |
|
|
rs531875170 CA372639411 |
351 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4938887 rs531875170 |
351 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs531875170 | 351 | I>L | No |
1000Genomes ExAC gnomAD |
|
|
rs781924960 CA4938888 |
353 | Y>H | No |
ClinGen ExAC gnomAD |
|
| rs781924960 | 353 | Y>H | No |
ExAC gnomAD |
|
| rs782414039 | 355 | G>A | No |
ExAC gnomAD |
|
|
CA4938890 rs782414039 |
355 | G>A | No |
ClinGen ExAC gnomAD |
|
| rs782011638 | 357 | I>T | No |
ExAC TOPMed gnomAD |
|
|
CA4938891 rs782011638 |
357 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554860881 CA372639529 |
358 | H>Y | No |
ClinGen gnomAD |
|
| rs1554860881 | 358 | H>Y | No | gnomAD | |
|
CA4938893 rs782740044 |
363 | P>L | No |
ClinGen ExAC gnomAD |
|
| rs782740044 | 363 | P>L | No |
ExAC gnomAD |
|
| rs782058643 | 366 | V>I | No |
ExAC TOPMed gnomAD |
|
|
CA4938895 rs782058643 |
366 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4938917 rs782000623 |
369 | R>W | No |
ClinGen ExAC gnomAD |
|
| rs782000623 | 369 | R>W | No |
ExAC gnomAD |
|
| rs1554860947 | 370 | K>E | No | gnomAD | |
|
CA372639779 rs1554860947 |
370 | K>E | No |
ClinGen gnomAD |
|
|
rs782102304 CA4938918 |
372 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782102304 | 372 | P>L | No |
ExAC TOPMed gnomAD |
|
|
CA4938921 rs148808398 |
374 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs148808398 | 374 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
|
CA372639897 rs1206845562 |
376 | A>V | No |
ClinGen TOPMed gnomAD |
|
| rs1206845562 | 376 | A>V | No |
TOPMed gnomAD |
|
|
CA372639927 rs1279942982 |
379 | V>A | No |
ClinGen TOPMed |
|
| rs1279942982 | 379 | V>A | No | TOPMed | |
| rs782536387 | 383 | H>Q | No |
ExAC TOPMed gnomAD |
|
|
CA372639969 rs782536387 |
383 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4938924 rs782536387 |
383 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782536387 | 383 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs1554860973 | 385 | L>F | No | gnomAD | |
|
CA372639993 rs1554860973 |
385 | L>F | No |
ClinGen gnomAD |
|
|
CA372640036 rs1350230914 |
387 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| rs1350230914 | 387 | Q>H | No |
TOPMed gnomAD |
|
| rs1554860989 | 389 | L>Q | No | Ensembl | |
|
rs1554860989 CA4938925 |
389 | L>Q | No |
ClinGen Ensembl |
|
| rs1554860989 | 389 | L>R | No | Ensembl | |
|
CA372640062 rs1554860989 |
389 | L>R | No |
ClinGen Ensembl |
|
|
CA372640076 rs1586598598 |
390 | E>G | No |
ClinGen Ensembl |
|
| rs1586598598 | 390 | E>G | No | Ensembl | |
| rs1554860999 | 390 | E>K | No | gnomAD | |
|
rs1554860999 CA372640066 |
390 | E>K | No |
ClinGen gnomAD |
|
| rs782479798 | 391 | E>G | No |
ExAC gnomAD |
|
|
rs782479798 CA4938929 |
391 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4938928 rs781845522 |
391 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs781845522 | 391 | E>K | No |
ExAC TOPMed gnomAD |
|
|
CA372640107 rs1281604129 |
392 | K>R | No |
ClinGen TOPMed gnomAD |
|
| rs1281604129 | 392 | K>R | No |
TOPMed gnomAD |
|
|
rs1281604129 CA372640106 |
392 | K>T | No |
ClinGen TOPMed gnomAD |
|
| rs1281604129 | 392 | K>T | No |
TOPMed gnomAD |
|
| rs1415046976 | 394 | R>C | No |
TOPMed gnomAD |
|
|
CA372640188 rs1415046976 |
394 | R>C | No |
ClinGen TOPMed gnomAD |
|
| rs782686342 | 394 | R>H | No |
ExAC TOPMed gnomAD |
|
|
CA4938947 rs782686342 |
394 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781890231 CA4938948 |
395 | A>T | No |
ClinGen ExAC gnomAD |
|
| rs781890231 | 395 | A>T | No |
ExAC gnomAD |
|
|
rs1554861109 CA372640225 |
397 | L>H | No |
ClinGen gnomAD |
|
| rs1554861109 | 397 | L>H | No | gnomAD | |
|
CA372640220 rs1554861107 |
397 | L>V | No |
ClinGen gnomAD |
|
| rs1554861107 | 397 | L>V | No | gnomAD | |
|
rs913923794 CA187672833 |
402 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| rs913923794 | 402 | R>Q | No |
TOPMed gnomAD |
|
|
rs782531911 CA4938949 |
402 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782531911 | 402 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1554861117 | 403 | A>T | No | gnomAD | |
|
rs1554861117 CA372640304 |
403 | A>T | No |
ClinGen gnomAD |
|
| rs1554861119 | 405 | I>T | No | gnomAD | |
|
CA372640343 rs1554861119 |
405 | I>T | No |
ClinGen gnomAD |
|
|
rs1416924020 CA372640361 |
407 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| rs1416924020 | 407 | R>Q | No |
TOPMed gnomAD |
|
| rs782208902 | 409 | D>A | No |
ExAC TOPMed gnomAD |
|
|
rs782208902 CA4938951 |
409 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs201295286 | 410 | A>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA372640405 rs201295286 |
410 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs201295286 | 410 | A>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs201295286 CA4938953 |
410 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4938952 rs782320085 |
410 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782320085 | 410 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1334562446 | 411 | A>T | No | TOPMed | |
|
CA372640416 rs1334562446 |
411 | A>T | No |
ClinGen TOPMed |
|
| rs1274236273 | 412 | M>I | No |
TOPMed gnomAD |
|
|
CA372640445 rs1274236273 |
412 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA187672873 rs921386378 |
414 | A>E | No |
ClinGen TOPMed gnomAD |
|
| rs921386378 | 414 | A>E | No |
TOPMed gnomAD |
|
| rs921386378 | 414 | A>V | No |
TOPMed gnomAD |
|
|
CA372640470 rs921386378 |
414 | A>V | No |
ClinGen TOPMed gnomAD |
|
| rs1554861134 | 415 | H>Y | No | gnomAD | |
|
rs1554861134 CA372640476 |
415 | H>Y | No |
ClinGen gnomAD |
|
| rs1293071057 | 416 | A>T | No |
TOPMed gnomAD |
|
|
CA372640491 rs1293071057 |
416 | A>T | No |
ClinGen TOPMed gnomAD |
|
| rs1213474883 | 417 | A>D | No |
TOPMed gnomAD |
|
|
CA372640511 rs1213474883 |
417 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA372640504 rs1554861137 |
417 | A>T | No |
ClinGen gnomAD |
|
| rs1554861137 | 417 | A>T | No | gnomAD | |
| rs1213474883 | 417 | A>V | No |
TOPMed gnomAD |
|
|
CA372640515 rs1213474883 |
417 | A>V | No |
ClinGen TOPMed gnomAD |
|
| rs1554861144 | 418 | A>T | No | gnomAD | |
|
rs1554861144 CA372640518 |
418 | A>T | No |
ClinGen gnomAD |
|
|
rs1584847388 CA372640559 |
421 | V>G | No |
ClinGen Ensembl |
|
|
rs1326306865 CA372640554 |
421 | V>L | No |
ClinGen TOPMed |
|
| rs1326306865 | 421 | V>L | No | TOPMed | |
|
rs374281647 CA372640554 |
421 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA918391651 rs1554861148 |
422 | Q>R* | No |
ClinGen Ensembl |
|
| rs1554861148 | 422 | Q>R* | No | Ensembl | |
| rs1554861257 | 423 | D>A | No | gnomAD | |
|
CA372640609 rs1554861257 |
423 | D>A | No |
ClinGen gnomAD |
|
| rs781787734 | 423 | D>E | No | ExAC | |
|
CA372640615 rs781787734 |
423 | D>E | No |
ClinGen ExAC |
|
| rs1554861262 | 424 | Y>H | No | gnomAD | |
|
rs1554861262 CA372640620 |
424 | Y>H | No |
ClinGen gnomAD |
|
| rs1554861267 | 424 | Y>S | No | gnomAD | |
|
CA372640624 rs1554861267 |
424 | Y>S | No |
ClinGen gnomAD |
|
|
CA372640631 rs1554861271 |
425 | L>P | No |
ClinGen gnomAD |
|
| rs1554861271 | 425 | L>P | No | gnomAD | |
| rs1260876438 | 427 | F>L | No |
TOPMed gnomAD |
|
|
rs1260876438 CA372640652 |
427 | F>L | No |
ClinGen TOPMed gnomAD |
|
| rs1554861275 | 428 | A>T | No | gnomAD | |
|
rs1554861275 CA372640654 |
428 | A>T | No |
ClinGen gnomAD |
|
| rs1554861276 | 428 | A>V | No | gnomAD | |
|
rs1554861276 CA372640660 |
428 | A>V | No |
ClinGen gnomAD |
|
|
CA372640711 rs1554861281 |
431 | L>V | No |
ClinGen gnomAD |
|
| rs1554861281 | 431 | L>V | No | gnomAD | |
|
rs1554861284 CA372640729 |
432 | M>I | No |
ClinGen gnomAD |
|
| rs1554861284 | 432 | M>I | No | gnomAD | |
|
rs1554861285 CA372640755 |
434 | R>C | No |
ClinGen gnomAD |
|
| rs1554861285 | 434 | R>C | No | gnomAD | |
|
CA4938978 rs782560296 |
434 | R>H | No |
ClinGen ExAC gnomAD |
|
| rs782560296 | 434 | R>H | No |
ExAC gnomAD |
|
|
rs782560296 CA372640765 |
434 | R>L | No |
ClinGen ExAC gnomAD |
|
| rs782560296 | 434 | R>L | No |
ExAC gnomAD |
|
| rs1554861287 | 435 | P>S | No | gnomAD | |
|
rs1554861287 CA372640774 |
435 | P>S | No |
ClinGen gnomAD |
|
|
rs958511109 CA187673015 |
437 | R>C | No |
ClinGen TOPMed gnomAD |
|
| rs958511109 | 437 | R>C | No |
TOPMed gnomAD |
|
| rs1232505779 | 437 | R>H | No |
TOPMed gnomAD |
|
|
rs1232505779 CA372640823 |
437 | R>H | No |
ClinGen TOPMed gnomAD |
|
| rs1554861302 | 439 | G>R | No | gnomAD | |
|
CA372640861 rs1554861302 |
439 | G>R | No |
ClinGen gnomAD |
|
|
CA372640903 rs1325942550 |
440 | Q>* | No |
ClinGen TOPMed |
|
| rs1325942550 | 440 | Q>* | No | TOPMed | |
|
rs1384447806 CA372640979 |
442 | W>S | No |
ClinGen TOPMed |
|
| rs1384447806 | 442 | W>S | No | TOPMed | |
| rs782258290 | 444 | S>L | No |
ExAC TOPMed gnomAD |
|
|
CA4938980 rs782258290 |
444 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372641088 rs1462351624 |
445 | H>Q | No |
ClinGen TOPMed gnomAD |
|
| rs1462351624 | 445 | H>Q | No |
TOPMed gnomAD |
|
| rs1554861311 | 445 | H>Y | No | gnomAD | |
|
CA372641072 rs1554861311 |
445 | H>Y | No |
ClinGen gnomAD |
|
| rs540314346 | 446 | L>I | No |
ExAC TOPMed gnomAD |
|
|
CA4938983 rs540314346 |
446 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540314346 CA4938982 |
446 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs540314346 | 446 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs976782297 | 447 | L>P | No | TOPMed | |
|
rs976782297 CA187673043 |
447 | L>P | No |
ClinGen TOPMed |
|
|
CA372641169 rs1554861321 |
448 | S>G | No |
ClinGen gnomAD |
|
| rs1554861321 | 448 | S>G | No | gnomAD | |
|
CA4938984 rs782328226 |
448 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782328226 | 448 | S>N | No |
ExAC TOPMed gnomAD |
|
|
rs781923259 CA4938985 COSM1181996 |
449 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| rs781923259 | 449 | R>C | No |
ExAC gnomAD |
|
| rs1554861325 | 450 | E>V | No | gnomAD | |
|
CA372641251 rs1554861325 |
450 | E>V | No |
ClinGen gnomAD |
|
|
rs1251125393 CA372641268 |
451 | E>K | No |
ClinGen TOPMed |
|
| rs1251125393 | 451 | E>K | No | TOPMed | |
|
rs1554861328 CA372641300 |
452 | A>T | No |
ClinGen gnomAD |
|
| rs1554861328 | 452 | A>T | No | gnomAD | |
| rs1554861333 | 452 | A>V | No | gnomAD | |
|
rs1554861333 CA372641308 |
452 | A>V | No |
ClinGen gnomAD |
|
|
CA4938988 rs200810621 |
453 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs200810621 | 453 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1292220873 | 455 | M>V | No |
TOPMed gnomAD |
|
|
rs1292220873 CA372641386 |
455 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372641525 rs1338778876 |
458 | M>T | No |
ClinGen TOPMed |
|
| rs1338778876 | 458 | M>T | No | TOPMed | |
| rs781932927 | 458 | M>V | No |
ExAC gnomAD |
|
|
CA4938991 rs781932927 |
458 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4938993 rs782800907 |
460 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782800907 | 460 | R>C | No |
ExAC TOPMed gnomAD |
|
|
rs1369415039 CA372641557 |
460 | R>H | No |
ClinGen TOPMed |
|
| rs1369415039 | 460 | R>H | No | TOPMed | |
|
rs782800907 CA372641548 |
460 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782800907 | 460 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs367975986 | 461 | E>A | No | TOPMed | |
|
rs367975986 CA187673120 |
461 | E>A | No |
ClinGen TOPMed |
|
| rs1397161094 | 462 | R>C | No | TOPMed | |
|
CA372641616 rs1397161094 |
462 | R>C | No |
ClinGen TOPMed |
|
|
CA372641623 rs868957894 |
462 | R>H | No |
ClinGen Ensembl |
|
| rs868957894 | 462 | R>H | No | Ensembl | |
|
rs868957894 CA372641625 |
462 | R>L | No |
ClinGen Ensembl |
|
| rs868957894 | 462 | R>L | No | Ensembl | |
|
CA372641634 rs1325058185 |
463 | F>I | No |
ClinGen TOPMed |
|
| rs1325058185 | 463 | F>I | No | TOPMed | |
|
CA187673139 rs781885088 |
463 | F>L | No |
ClinGen ExAC gnomAD |
|
| rs781885088 | 463 | F>L | No |
ExAC gnomAD |
|
| rs782757657 | 464 | E>D | No |
ExAC TOPMed gnomAD |
|
|
CA4938996 rs782757657 |
464 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782516147 | 464 | E>K | No |
ExAC TOPMed gnomAD |
|
|
rs782516147 CA4938995 |
464 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs909729441 | 465 | A>T | No | Ensembl | |
|
CA187673173 rs909729441 |
465 | A>T | No |
ClinGen Ensembl |
|
| rs782460777 | 466 | V>A | No |
ExAC TOPMed gnomAD |
|
|
CA4938998 rs782460777 |
466 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781835742 CA4938997 |
466 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs781835742 | 466 | V>I | No |
ExAC TOPMed gnomAD |
|
|
CA372641728 rs1554861369 |
467 | M>I | No |
ClinGen gnomAD |
|
| rs1554861369 | 467 | M>I | No | gnomAD | |
| rs782601217 | 467 | M>T | No |
ExAC TOPMed gnomAD |
|
|
CA4938999 rs782601217 |
467 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1393122576 | 467 | M>V | No | TOPMed | |
|
CA372641711 rs1393122576 |
467 | M>V | No |
ClinGen TOPMed |
|
|
CA187673193 rs917191737 |
468 | A>T | No |
ClinGen Ensembl |
|
| rs917191737 | 468 | A>T | No | Ensembl | |
| rs782182620 | 468 | A>V | No |
ExAC TOPMed gnomAD |
|
|
rs782182620 CA4939000 |
468 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372641817 rs1248270620 |
471 | R>G | No |
ClinGen TOPMed gnomAD |
|
| rs1248270620 | 471 | R>G | No |
TOPMed gnomAD |
|
| rs782662436 | 472 | E>* | No |
ExAC gnomAD |
|
|
CA372641839 rs782662436 |
472 | E>* | No |
ClinGen ExAC gnomAD |
|
| rs782662436 | 472 | E>K | No |
ExAC gnomAD |
|
|
CA4939002 rs782662436 |
472 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA372641868 rs1554861382 |
473 | L>P | No |
ClinGen gnomAD |
|
| rs1554861382 | 473 | L>P | No | gnomAD | |
|
rs1054336701 CA187673213 |
475 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| rs1054336701 | 475 | R>Q | No |
TOPMed gnomAD |
|
| rs565227928 | 476 | P>S | No |
1000Genomes ExAC gnomAD |
|
|
rs565227928 CA4939005 |
476 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs1554861387 | 477 | M>T | No | gnomAD | |
|
CA372641932 rs1554861387 |
477 | M>T | No |
ClinGen gnomAD |
|
|
rs1345829296 CA372642000 |
479 | L>M | No |
ClinGen TOPMed |
|
| rs1345829296 | 479 | L>M | No | TOPMed | |
| rs1554861401 | 483 | N>I | No | gnomAD | |
|
rs1554861401 CA372642118 |
483 | N>I | No |
ClinGen gnomAD |
|
| rs1370130918 | 483 | N>K | No | TOPMed | |
|
rs1370130918 CA372642129 |
483 | N>K | No |
ClinGen TOPMed |
|
| rs142049013 | 486 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
|
CA4939008 rs142049013 |
486 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372642187 rs142049013 |
486 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs142049013 | 486 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs893983832 | 487 | V>G | No | Ensembl | |
|
rs893983832 CA187673254 |
487 | V>G | No |
ClinGen Ensembl |
|
|
rs1431042813 CA372643032 |
488 | R>L | No |
ClinGen TOPMed |
|
| rs1431042813 | 488 | R>L | No | TOPMed | |
| rs1554861422 | 488 | R>S | No | gnomAD | |
|
CA372643024 rs1554861422 |
488 | R>S | No |
ClinGen gnomAD |
|
| rs1554861425 | 489 | A>T | No | gnomAD | |
|
rs1554861425 CA372643040 |
489 | A>T | No |
ClinGen gnomAD |
|
|
CA372643045 rs1554861427 |
489 | A>V | No |
ClinGen gnomAD |
|
| rs1554861427 | 489 | A>V | No | gnomAD | |
|
rs1554861430 CA372643047 |
490 | I>V | No |
ClinGen gnomAD |
|
| rs1554861430 | 490 | I>V | No | gnomAD | |
|
rs1172888201 CA372643063 |
491 | N>S | No |
ClinGen TOPMed |
|
| rs1172888201 | 491 | N>S | No | TOPMed | |
|
rs532378678 CA4939013 |
492 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs532378678 | 492 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1021197375 | 495 | G>S | No | Ensembl | |
|
rs1021197375 CA187673308 |
495 | G>S | No |
ClinGen Ensembl |
|
| rs781814299 | 496 | A>T | No |
ExAC gnomAD |
|
|
CA4939015 COSM1455620 rs781814299 |
496 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| rs1554861446 | 496 | A>V | No | gnomAD | |
|
rs1554861446 CA372643128 |
496 | A>V | No |
ClinGen gnomAD |
|
| rs1554861448 | 497 | P>S | No | gnomAD | |
|
rs1554861448 CA372643131 |
497 | P>S | No |
ClinGen gnomAD |
|
| rs1469500277 | 498 | V>A | No | TOPMed | |
|
CA372643153 rs1469500277 |
498 | V>A | No |
ClinGen TOPMed |
|
| rs566187079 | 500 | R>H | No |
1000Genomes ExAC gnomAD |
|
|
CA4939017 rs566187079 |
500 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566187079 CA372643182 |
500 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs566187079 | 500 | R>L | No |
1000Genomes ExAC gnomAD |
|
| rs1554861456 | 501 | Y>C | No | gnomAD | |
|
CA372643192 rs1554861456 |
501 | Y>C | No |
ClinGen gnomAD |
|
|
CA372643205 rs1554861461 |
502 | F>V | No |
ClinGen gnomAD |
|
| rs1554861461 | 502 | F>V | No | gnomAD | |
|
CA372643224 rs1484704517 |
503 | L>F | No |
ClinGen TOPMed gnomAD |
|
| rs1484704517 | 503 | L>F | No |
TOPMed gnomAD |
|
|
rs1484704517 CA372643222 |
503 | L>V | No |
ClinGen TOPMed gnomAD |
|
| rs1484704517 | 503 | L>V | No |
TOPMed gnomAD |
|
| rs1256939921 | 504 | M>V | No | TOPMed | |
|
rs1256939921 CA372643234 |
504 | M>V | No |
ClinGen TOPMed |
|
| rs1211740533 | 505 | A>G | No |
TOPMed gnomAD |
|
|
rs1211740533 CA372643264 |
505 | A>G | No |
ClinGen TOPMed gnomAD |
|
| rs1554861467 | 505 | A>P | No | gnomAD | |
|
rs1554861467 CA372643259 |
505 | A>P | No |
ClinGen gnomAD |
|
|
CA4939019 rs782515826 |
506 | K>E | No |
ClinGen ExAC gnomAD |
|
| rs782515826 | 506 | K>E | No |
ExAC gnomAD |
|
| rs552968665 | 508 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA4939056 rs552968665 |
508 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs552968665 | 508 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs552968665 CA4939057 |
508 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4939058 rs782818589 |
509 | V>I | No |
ClinGen ExAC gnomAD |
|
| rs782818589 | 509 | V>I | No |
ExAC gnomAD |
|
|
CA4939059 rs782019641 |
510 | R>Q | No |
ClinGen ExAC gnomAD |
|
| rs782019641 | 510 | R>Q | No |
ExAC gnomAD |
|
| rs1554861547 | 510 | R>W | No | gnomAD | |
|
CA372643410 rs1554861547 |
510 | R>W | No |
ClinGen gnomAD |
|
|
rs782130401 CA4939060 |
511 | G>D | No |
ClinGen ExAC gnomAD |
|
| rs782130401 | 511 | G>D | No |
ExAC gnomAD |
|
| rs1165939831 | 512 | W>* | No | TOPMed | |
|
rs1165939831 CA372643461 |
512 | W>* | No |
ClinGen TOPMed |
|
|
CA372643478 rs1554861560 |
513 | S>N | No |
ClinGen gnomAD |
|
| rs1554861560 | 513 | S>N | No | gnomAD | |
|
CA187673483 rs782124358 |
514 | R>C | No |
ClinGen TOPMed |
|
| rs782124358 | 514 | R>C | No | TOPMed | |
|
CA372643504 rs1417497160 |
514 | R>H | No |
ClinGen TOPMed gnomAD |
|
| rs1417497160 | 514 | R>H | No |
TOPMed gnomAD |
|
| rs998449912 | 515 | L>V | No | Ensembl | |
|
rs998449912 CA187673485 |
515 | L>V | No |
ClinGen Ensembl |
|
|
CA372643536 rs1476012326 |
516 | A>E | No |
ClinGen TOPMed gnomAD |
|
| rs1476012326 | 516 | A>E | No |
TOPMed gnomAD |
|
|
rs1554861571 CA372643560 |
517 | G>V | No |
ClinGen gnomAD |
|
| rs1554861571 | 517 | G>V | No | gnomAD | |
| rs201648091 | 518 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201648091 CA4939065 |
518 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201648091 | 518 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4939066 rs201648091 |
518 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1554861572 | 519 | T>P | No | gnomAD | |
|
CA372643581 rs1554861572 |
519 | T>P | No |
ClinGen gnomAD |
|
|
rs1322961675 CA372643618 |
520 | Y>C | No |
ClinGen TOPMed |
|
| rs1322961675 | 520 | Y>C | No | TOPMed | |
|
CA4939069 rs191475627 |
521 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs191475627 | 521 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs191475627 CA4939068 |
521 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs191475627 | 521 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA187673516 rs1006004333 |
521 | R>W | No |
ClinGen gnomAD |
|
| rs1006004333 | 521 | R>W | No | gnomAD | |
|
rs782622492 CA4939070 |
522 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782622492 | 522 | G>A | No |
ExAC TOPMed gnomAD |
|
|
rs782622492 CA372643636 |
522 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782622492 | 522 | G>D | No |
ExAC TOPMed gnomAD |
|
|
CA372643631 rs1554861580 |
522 | G>S | No |
ClinGen gnomAD |
|
| rs1554861580 | 522 | G>S | No | gnomAD | |
|
rs1299822319 CA372643640 |
523 | V>I | No |
ClinGen TOPMed gnomAD |
|
| rs1299822319 | 523 | V>I | No |
TOPMed gnomAD |
|
| rs1459612144 | 525 | G>D | No | TOPMed | |
|
CA372643671 rs1459612144 |
525 | G>D | No |
ClinGen TOPMed |
|
| rs781929458 | 525 | G>R | No |
ExAC TOPMed gnomAD |
|
|
rs781929458 CA372643668 |
525 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781929458 CA4939072 |
525 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs781929458 | 525 | G>S | No |
ExAC TOPMed gnomAD |
|
|
CA4939073 rs543568834 |
527 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs543568834 | 527 | S>N | No |
1000Genomes ExAC gnomAD |
|
| rs565239631 | 528 | L>V | No |
1000Genomes ExAC gnomAD |
|
|
CA4939074 rs565239631 |
528 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs1554861594 | 530 | R>C | No | gnomAD | |
|
CA372643728 rs1554861594 |
530 | R>C | No |
ClinGen gnomAD |
|
|
rs782388925 CA372643743 |
531 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782388925 | 531 | H>Q | No |
ExAC TOPMed gnomAD |
|
|
CA372643746 rs1392501972 |
532 | A>T | No |
ClinGen TOPMed gnomAD |
|
| rs1392501972 | 532 | A>T | No |
TOPMed gnomAD |
|
|
CA4939076 rs781985622 |
533 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs781985622 | 533 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1454074417 | 535 | V>A | No | TOPMed | |
|
CA372643791 rs1454074417 |
535 | V>A | No |
ClinGen TOPMed |
|
|
rs1554861603 CA372643782 |
535 | V>I | No |
ClinGen gnomAD |
|
| rs1554861603 | 535 | V>I | No | gnomAD | |
|
CA372643822 rs1554861607 |
536 | W>* | No |
ClinGen gnomAD |
|
| rs1554861607 | 536 | W>* | No | gnomAD | |
| rs782725672 | 537 | E>D | No |
ExAC gnomAD |
|
|
rs782725672 CA4939078 |
537 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs144632415 CA187673561 |
538 | M>I | No |
ClinGen 1000Genomes gnomAD |
|
| rs144632415 | 538 | M>I | No |
1000Genomes gnomAD |
|
|
rs1193326755 CA372643858 |
538 | M>T | No |
ClinGen TOPMed gnomAD |
|
| rs1193326755 | 538 | M>T | No |
TOPMed gnomAD |
|
| rs782045220 | 538 | M>V | No | Ensembl | |
|
CA187673560 rs782045220 |
538 | M>V | No |
ClinGen Ensembl |
|
| rs781929522 | 539 | L>I | No |
ExAC gnomAD |
|
|
rs781929522 CA4939079 |
539 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA372643898 rs1249319035 |
540 | K>R | No |
ClinGen TOPMed |
|
| rs1249319035 | 540 | K>R | No | TOPMed | |
|
rs782039585 CA372643933 |
542 | E>* | No |
ClinGen ExAC gnomAD |
|
| rs782039585 | 542 | E>* | No |
ExAC gnomAD |
|
|
rs782039585 CA372643922 |
542 | E>K | No |
ClinGen ExAC gnomAD |
|
| rs782039585 | 542 | E>K | No |
ExAC gnomAD |
|
|
CA4939080 rs782039585 |
542 | E>Q | No |
ClinGen ExAC gnomAD |
|
| rs782039585 | 542 | E>Q | No |
ExAC gnomAD |
|
| rs1554861615 | 542 | E>V | No | gnomAD | |
|
rs1554861615 CA372643941 |
542 | E>V | No |
ClinGen gnomAD |
|
| rs1203205184 | 543 | V>A | No |
TOPMed gnomAD |
|
|
rs1203205184 CA372643954 |
543 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
COSM1455621 CA4939081 rs199670913 |
544 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| rs199670913 | 544 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
CA4939083 rs782534158 |
545 | L>I | No |
ClinGen ExAC gnomAD |
|
| rs782534158 | 545 | L>I | No |
ExAC gnomAD |
|
|
CA4939112 rs534948719 |
550 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs534948719 | 550 | L>F | No |
1000Genomes ExAC gnomAD |
|
|
CA372644124 rs1554861666 |
551 | A>P | No |
ClinGen gnomAD |
|
| rs1554861666 | 551 | A>P | No | gnomAD | |
|
CA372644122 rs1554861666 |
551 | A>T | No |
ClinGen gnomAD |
|
| rs1554861666 | 551 | A>T | No | gnomAD | |
| rs1403533272 | 551 | A>V | No | TOPMed | |
|
rs1403533272 CA372644136 |
551 | A>V | No |
ClinGen TOPMed |
|
|
CA372644139 rs1305118137 |
552 | M>V | No |
ClinGen TOPMed gnomAD |
|
| rs1305118137 | 552 | M>V | No |
TOPMed gnomAD |
|
| rs1554861673 | 553 | R>P | No | gnomAD | |
|
CA372644158 rs1554861673 |
553 | R>P | No |
ClinGen gnomAD |
|
| rs1452014556 | 553 | R>W | No |
TOPMed gnomAD |
|
|
rs1452014556 CA372644155 |
553 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1413788247 CA372644179 |
555 | T>S | No |
ClinGen TOPMed |
|
| rs1413788247 | 555 | T>S | No | TOPMed | |
|
CA372644193 rs1554861685 |
556 | A>D | No |
ClinGen gnomAD |
|
| rs1554861685 | 556 | A>D | No | gnomAD | |
| rs1042549844 | 556 | A>T | No | gnomAD | |
|
CA187673774 rs1042549844 |
556 | A>T | No |
ClinGen gnomAD |
|
| rs922773153 | 558 | L>Q | No | Ensembl | |
|
CA187673778 rs922773153 |
558 | L>Q | No |
ClinGen Ensembl |
|
|
COSM3785910 rs1554861691 CA372644255 |
560 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| rs1554861691 | 560 | R>H | No | gnomAD | |
| rs1554861692 | 561 | A>T | No | gnomAD | |
|
rs1554861692 CA372644259 |
561 | A>T | No |
ClinGen gnomAD |
|
| rs1554861693 | 562 | L>P | No | gnomAD | |
|
rs1554861693 CA372644273 |
562 | L>P | No |
ClinGen gnomAD |
|
| rs373850177 | 562 | L>V | No |
ESP TOPMed |
|
|
CA372644267 rs373850177 |
562 | L>V | No |
ClinGen ESP TOPMed |
|
|
rs782451383 CA4939114 |
563 | V>F | No |
ClinGen ExAC gnomAD |
|
| rs782451383 | 563 | V>F | No |
ExAC gnomAD |
|
|
CA372644287 rs1202131795 |
563 | V>G | No |
ClinGen TOPMed |
|
| rs1202131795 | 563 | V>G | No | TOPMed | |
| rs782451383 | 563 | V>I | No |
ExAC gnomAD |
|
|
CA4939115 rs782451383 |
563 | V>I | No |
ClinGen ExAC gnomAD |
|
| rs1554861701 | 564 | H>R | No | gnomAD | |
|
rs1554861701 CA372644294 |
564 | H>R | No |
ClinGen gnomAD |
|
| rs782291276 | 564 | H>Y | No |
ExAC gnomAD |
|
|
CA4939116 rs782291276 |
564 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4939117 rs782413945 |
565 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782413945 | 565 | L>P | No |
ExAC TOPMed gnomAD |
|
|
CA372644320 rs1554861704 |
566 | S>N | No |
ClinGen gnomAD |
|
| rs1554861704 | 566 | S>N | No | gnomAD | |
| rs553208368 | 567 | L>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs553208368 CA4939118 |
567 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs146471243 | 568 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs146471243 | 568 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372644347 rs146471243 |
568 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4939119 rs146471243 |
568 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs146471243 | 568 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4939120 rs146471243 |
568 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372644366 rs1554861709 |
569 | P>R | No |
ClinGen gnomAD |
|
| rs1554861709 | 569 | P>R | No | gnomAD | |
| rs1554861711 | 570 | P>S | No | gnomAD | |
|
rs1554861711 CA372644373 |
570 | P>S | No |
ClinGen gnomAD |
|
| rs1315388528 | 571 | A>G | No |
TOPMed gnomAD |
|
|
rs1315388528 CA372644395 |
571 | A>G | No |
ClinGen TOPMed gnomAD |
|
| rs1315388528 | 571 | A>V | No |
TOPMed gnomAD |
|
|
rs1315388528 CA372644397 |
571 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372644426 rs1390298825 |
573 | E>D | No |
ClinGen TOPMed |
|
| rs1390298825 | 573 | E>D | No | TOPMed | |
|
rs782132943 CA4939125 |
573 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782132943 | 573 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1554861714 | 574 | L>F | No | gnomAD | |
|
rs1554861714 CA372644434 |
574 | L>F | No |
ClinGen gnomAD |
|
| rs781836012 | 576 | Q>E | No |
ExAC gnomAD |
|
|
CA372644481 rs781836012 |
576 | Q>E | No |
ClinGen ExAC gnomAD |
|
| rs1554861719 | 576 | Q>H | No | gnomAD | |
|
CA372644495 rs1554861719 |
576 | Q>H | No |
ClinGen gnomAD |
|
| rs781836012 | 576 | Q>K | No |
ExAC gnomAD |
|
|
rs781836012 CA4939127 |
576 | Q>K | No |
ClinGen ExAC gnomAD |
|
| rs1368575083 | 580 | T>I | No | TOPMed | |
|
CA372644561 rs1368575083 |
580 | T>I | No |
ClinGen TOPMed |
No associated diseases with Q3MIX3
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q86TW2 | ADCK1 | AarF domain-containing protein kinase 1 | Homo sapiens (Human) | SS |
| Q9MA15 | ABC1K3 | Protein ACTIVITY OF BC1 COMPLEX KINASE 3, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O04212 | At2g40090 | Putative ABC1 protein At2g40090 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWRPVQLCHF | HSALLHSRQK | PWPSPAVFFR | RNVRGLPPRF | SSPTPLWRKV | LSTAVVGAPL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLGARYVMAE | AREKRRMRLV | VDGMGRFGRS | LKVGLQISLD | YWWCTNVVLR | GVEENSPGYL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EVMSACHQRA | ADALVAGAIS | NGGLYVKLGQ | GLCSFNHLLP | PEYTRTLRVL | EDRALKRGFQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EVDELFLEDF | QALPHELFQE | FDYQPIAAAS | LAQVHRAKLH | DGTSVAVKVQ | YIDLRDRFDG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DIHTLELLLR | LVEVMHPSFG | FSWVLQDLKG | TLAQELDFEN | EGRNAERCAR | ELAHFPYVVV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PRVHWDKSSK | RVLTADFCAG | CKVNDVEAIR | SQGLAVHDIA | EKLIKAFAEQ | IFYTGFIHSD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PHPGNVLVRK | GPDGKAELVL | LDHGLYQFLE | EKDRAALCQL | WRAIILRDDA | AMRAHAAALG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VQDYLLFAEM | LMQRPVRLGQ | LWGSHLLSRE | EAAYMVDMAR | ERFEAVMAVL | RELPRPMLLV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LRNINTVRAI | NVALGAPVDR | YFLMAKRAVR | GWSRLAGATY | RGVYGTSLLR | HAKVVWEMLK |
| 550 | 560 | 570 | |||
| FEVALRLETL | AMRLTALLAR | ALVHLSLVPP | AEELYQYLET |