Q8N3E9
SS
Gene name |
PLCD3 |
Protein name |
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 |
Names |
Phosphoinositide phospholipase C-delta-3, Phospholipase C-delta-3, PLC-delta-3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:113026 |
EC number |
3.1.4.11: Phosphoric diester hydrolases |
Protein Class |
|
Descriptions
PLCD3 hydrolyzes the phosphatidylinositol 4,5-bisphosphate (PIP2) to generate 2 second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Autoinhibitory region is a portion of the linker that separates the conserved X and Y boxes comprising the catalytic TIM barrel, at residues 483-527. The active site of a PLC isozyme toward phospholipid membranes should force the negatively charged X/Y linker away from the active site, therein relieving autoinhibition of the enzyme.
Autoinhibitory domains (AIDs)
Target domain |
337-644 (TIM barrel) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Hicks SN et al. (2008) "General and versatile autoinhibition of PLC isozymes", Molecular cell, 31, 383-94
- Muralidharan K et al. (2021) "Structure and regulation of phospholipase Cβ and ε at the membrane", Chemistry and physics of lipids, 235, 105050
- Rugema NY et al. (2020) "Structure of phospholipase Cε reveals an integrated RA1 domain and previously unidentified regulatory elements", Communications biology, 3, 445
- Charpentier TH et al. (2014) "Membrane-induced allosteric control of phospholipase C-β isozymes", The Journal of biological chemistry, 289, 29545-57
- Lyon AM et al. (2011) "An autoinhibitory helix in the C-terminal region of phospholipase C-β mediates Gαq activation", Nature structural & molecular biology, 18, 999-1005
Autoinhibited structure
Activated structure
1 structures for Q8N3E9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N3E9-F1 | Predicted | AlphaFoldDB |
720 variants for Q8N3E9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1233434065 CA399855153 |
2 | L>P | No |
ClinGen TOPMed |
|
|
CA291003653 rs990783212 |
4 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA291003659 rs990783212 |
4 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399855139 rs1283121912 |
5 | R>G | No |
ClinGen TOPMed |
|
|
CA291003641 rs1018362687 |
6 | W>* | No |
ClinGen TOPMed |
|
|
CA399855117 rs1215969939 |
8 | R>S | No |
ClinGen TOPMed |
|
|
CA399855103 rs1254002031 |
10 | R>C | No |
ClinGen TOPMed |
|
|
rs1454257043 CA399855097 |
11 | R>C | No |
ClinGen TOPMed |
|
|
rs1295431153 CA399855090 |
12 | P>L | No |
ClinGen gnomAD |
|
|
rs751188083 CA8611556 |
15 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs959359140 CA291003610 |
15 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1158002352 CA399855063 |
16 | P>A | No |
ClinGen TOPMed |
|
|
rs1598043078 CA399855045 |
17 | P>R | No |
ClinGen Ensembl |
|
|
CA399855008 rs1438016332 |
19 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399854975 rs1321046491 |
22 | V>I | No |
ClinGen Ensembl |
|
|
CA8611554 rs762789789 |
24 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381714692 CA399854873 |
29 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8611552 rs765263872 |
30 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291003565 rs937017799 |
32 | L>F | No |
ClinGen TOPMed |
|
|
rs1348165041 CA399854829 |
33 | P>R | No |
ClinGen TOPMed |
|
|
rs759481113 CA8611551 |
33 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs747234783 CA8611548 |
35 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611545 rs748538131 |
38 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772376657 CA8611546 |
38 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611544 rs568740668 |
39 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8611542 rs749742902 |
40 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369624861 CA399854735 |
41 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8611541 rs369624861 |
41 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399854717 rs1359324738 |
42 | G>V | No |
ClinGen gnomAD |
|
|
CA8611538 rs763792674 |
44 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA8611537 rs377507691 |
44 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs550742003 CA8611536 |
45 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759569014 CA8611534 |
46 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199707943 CA399854665 |
46 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8611535 rs199707943 |
46 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1348087171 CA399854645 |
48 | L>M | No |
ClinGen TOPMed |
|
|
rs766614973 CA8611532 |
48 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291003503 rs1001063151 |
51 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA290997271 rs533408729 |
55 | G>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA399854553 rs1253422104 |
55 | G>S | No |
ClinGen TOPMed |
|
|
rs1321957030 CA399852294 |
57 | T>M | No |
ClinGen gnomAD |
|
|
rs570914914 CA8611519 |
60 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs570914914 CA8611520 |
60 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1332006054 CA399852257 |
62 | V>A | No |
ClinGen gnomAD |
|
|
rs752349706 CA399852260 |
62 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399852261 rs752349706 |
62 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752349706 CA8611518 |
62 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448887089 CA399852254 |
63 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1448887089 CA399852255 |
63 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399852253 rs1392128420 |
63 | R>H | No |
ClinGen gnomAD |
|
|
CA399852256 rs1448887089 |
63 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs778883129 CA399852249 |
64 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778883129 CA8611517 |
64 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754796799 CA8611516 |
64 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611514 rs766334483 |
65 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA399852237 rs1239163236 |
66 | L>V | No |
ClinGen gnomAD |
|
|
CA8611511 rs767442841 |
67 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs372798041 CA8611512 |
67 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778755408 CA8611510 |
69 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA290997231 rs1031114590 |
69 | S>T | No |
ClinGen Ensembl |
|
|
CA399852220 rs369592023 |
70 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA399852219 rs999183937 |
70 | R>P | No |
ClinGen gnomAD |
|
|
rs999183937 CA290997222 |
70 | R>Q | No |
ClinGen gnomAD |
|
|
rs369592023 CA290997226 |
70 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA399852215 rs1567881805 |
71 | L>F | No |
ClinGen Ensembl |
|
|
CA399852208 rs1329303137 |
72 | R>H | No |
ClinGen gnomAD |
|
|
CA399852206 rs1329303137 |
72 | R>L | No |
ClinGen gnomAD |
|
|
rs1322754328 CA399852204 |
73 | K>E | No |
ClinGen gnomAD |
|
|
CA399852198 rs769061426 |
73 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1392926627 CA399852197 |
74 | I>V | No |
ClinGen gnomAD |
|
|
CA8611507 rs763293887 |
75 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA290997216 rs371488521 |
75 | R>P | No |
ClinGen Ensembl |
|
|
CA399852183 rs770850091 |
76 | S>* | No |
ClinGen Ensembl |
|
|
rs770850091 CA290997214 |
76 | S>L | No |
ClinGen Ensembl |
|
|
rs776046275 CA8611506 |
77 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776046275 CA399852178 |
77 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770340208 CA8611505 |
78 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770340208 CA399852172 |
78 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611504 rs374938079 |
79 | W>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA399852154 rs1452920493 |
80 | H>D | No |
ClinGen gnomAD |
|
|
rs1452920493 CA399852153 |
80 | H>Y | No |
ClinGen gnomAD |
|
|
rs992232874 CA290997212 |
81 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs561069970 CA8611503 |
83 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399852117 rs1200174880 |
83 | R>P | No |
ClinGen gnomAD |
|
|
rs1200174880 CA399852119 |
83 | R>Q | No |
ClinGen gnomAD |
|
|
CA399852120 rs561069970 |
83 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771443651 CA8611502 |
85 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA399852079 rs747851992 |
86 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs542333396 CA290997210 |
86 | R>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA8611501 rs747851992 |
86 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1221798221 CA399852018 |
89 | E>V | No |
ClinGen TOPMed |
|
|
rs1598033034 CA399852001 |
90 | D>G | No |
ClinGen Ensembl |
|
|
rs371813949 CA8611500 |
90 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749098331 CA290997209 |
91 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611498 rs749098331 |
91 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283286553 CA399851956 |
93 | S>G | No |
ClinGen TOPMed |
|
|
rs750283951 CA8611495 |
94 | V>G | No |
ClinGen ExAC |
|
|
rs369720808 CA8611496 |
94 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399851923 rs369720808 |
94 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399851863 rs1276402334 |
97 | Q>K | No |
ClinGen gnomAD |
|
|
CA8611492 rs757308380 |
98 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA399851825 rs1196675944 |
99 | R>C | No |
ClinGen TOPMed |
|
|
rs1361449264 CA399851819 |
99 | R>H | No |
ClinGen gnomAD |
|
|
rs1361449264 CA399851817 |
99 | R>L | No |
ClinGen gnomAD |
|
|
CA290997205 rs962575710 |
101 | P>L | No |
ClinGen TOPMed |
|
|
CA8611491 rs751841944 |
102 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1413170901 CA399851762 |
103 | A>E | No |
ClinGen gnomAD |
|
|
rs200792069 CA8611490 |
104 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763098608 CA8611489 |
104 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368284208 CA8611488 |
105 | S>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs765472343 CA8611487 |
106 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs527527818 CA8611486 |
107 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399851690 rs527527818 |
107 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA290997197 rs1004542210 |
108 | I>V | No |
ClinGen TOPMed |
|
|
rs1283013842 CA399851601 |
109 | F>S | No |
ClinGen gnomAD |
|
|
CA290997165 rs931884508 |
111 | V>L | No |
ClinGen TOPMed |
|
|
CA399851534 rs1450691066 |
112 | Q>H | No |
ClinGen gnomAD |
|
|
CA290997164 rs866435656 |
115 | E>* | No |
ClinGen Ensembl |
|
|
rs1384771410 CA399851450 |
116 | A>V | No |
ClinGen TOPMed |
|
|
rs765674814 CA8611469 |
118 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867542786 CA290997159 |
118 | R>H | No |
ClinGen TOPMed |
|
|
rs765674814 CA8611468 |
118 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777261654 CA8611466 |
120 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs766996087 CA290997153 |
124 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA8611465 rs766996087 |
124 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399851287 rs1163459922 |
125 | G>R | No |
ClinGen gnomAD |
|
|
rs761205018 CA399851271 |
126 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1358540907 CA399851244 |
128 | R>G | No |
ClinGen TOPMed |
|
|
rs926691611 CA290997149 |
128 | R>H | No |
ClinGen TOPMed |
|
|
rs1178007436 CA399851199 |
130 | G>E | No |
ClinGen gnomAD |
|
|
rs1378246526 CA399851201 |
130 | G>R | No |
ClinGen gnomAD |
|
|
rs774017109 CA8611463 |
131 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA399851174 rs1279214831 |
132 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1234493300 CA399851168 |
132 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399851145 rs962539626 |
133 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs768239368 CA8611462 |
134 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1017181488 CA290997146 |
134 | A>V | No |
ClinGen TOPMed |
|
|
CA399851135 rs1242903110 |
135 | P>L | No |
ClinGen TOPMed |
|
|
CA290997140 rs951387875 |
136 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399851134 rs951387875 |
136 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA290997136 rs1029604503 |
136 | A>V | No |
ClinGen TOPMed |
|
|
rs958052474 CA290997133 |
137 | R>C | No |
ClinGen gnomAD |
|
|
rs1310916803 CA399851083 |
139 | L>P | No |
ClinGen gnomAD |
|
|
CA399851075 rs1348766352 |
140 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA399851074 rs1348766352 |
140 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs923734401 CA290997129 |
141 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1166240069 CA399851058 |
141 | I>V | No |
ClinGen TOPMed |
|
|
rs1358172353 CA399851041 |
142 | A>P | No |
ClinGen gnomAD |
|
|
rs1358172353 CA399851039 |
142 | A>S | No |
ClinGen gnomAD |
|
|
rs199520058 CA8611459 |
142 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1440021678 CA399851025 |
143 | F>L | No |
ClinGen gnomAD |
|
|
CA399850993 rs1477776473 |
144 | K>M | No |
ClinGen gnomAD |
|
|
rs769691455 CA8611458 |
144 | K>N | No |
ClinGen ExAC TOPMed |
|
|
rs1189365456 CA399851004 |
144 | K>Q | No |
ClinGen gnomAD |
|
|
rs1477776473 CA399850995 |
144 | K>R | No |
ClinGen gnomAD |
|
|
rs1224737922 CA399850980 |
145 | G>D | No |
ClinGen gnomAD |
|
|
CA399850984 rs745649447 |
145 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611457 rs745649447 |
145 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399850970 rs1394109717 |
146 | R>C | No |
ClinGen TOPMed |
|
|
CA8611456 rs780977016 |
146 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8611455 rs544652887 |
148 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1406723937 CA399850878 |
151 | D>A | No |
ClinGen gnomAD |
|
|
CA8611454 rs746901268 |
151 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs777864563 CA290997120 |
153 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777864563 CA8611453 |
153 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366361318 CA399850818 |
154 | A>V | No |
ClinGen gnomAD |
|
|
rs1274943291 CA399850803 |
155 | P>L | No |
ClinGen gnomAD |
|
|
rs1204839977 CA399850800 |
156 | T>A | No |
ClinGen TOPMed |
|
|
CA399850789 rs1406175496 |
156 | T>M | No |
ClinGen gnomAD |
|
|
CA399850791 rs1406175496 |
156 | T>R | No |
ClinGen gnomAD |
|
|
rs1420120570 CA399850775 |
157 | A>G | No |
ClinGen gnomAD |
|
|
CA399850780 rs1297174501 |
157 | A>S | No |
ClinGen gnomAD |
|
|
CA399850785 rs1297174501 |
157 | A>T | No |
ClinGen gnomAD |
|
|
rs1346740831 CA399850717 |
161 | Q>* | No |
ClinGen gnomAD |
|
|
rs1263103143 CA399850714 |
161 | Q>P | No |
ClinGen TOPMed |
|
|
CA399850698 rs1173932005 |
162 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA399850700 rs1173932005 |
162 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399850697 rs1262617465 |
162 | R>L | No |
ClinGen TOPMed |
|
|
CA399850670 rs1428145067 |
163 | W>C | No |
ClinGen TOPMed |
|
|
rs1034959672 CA290997098 |
163 | W>S | No |
ClinGen Ensembl |
|
|
rs994997997 CA290997095 |
164 | V>M | No |
ClinGen gnomAD |
|
|
rs1476855994 CA399850607 |
168 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1194623602 CA399850605 |
169 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8611450 rs778998483 |
171 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA399850538 rs1209787495 |
172 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs899305920 CA290997087 |
173 | R>H | No |
ClinGen gnomAD |
|
|
CA399850535 rs1313301940 |
173 | R>S | No |
ClinGen gnomAD |
|
|
rs1464306615 CA399850495 |
175 | D>G | No |
ClinGen TOPMed |
|
|
CA399850483 rs1337728907 |
176 | A>T | No |
ClinGen gnomAD |
|
|
rs1277252318 CA399850440 |
178 | S>R | No |
ClinGen gnomAD |
|
|
CA399850435 rs1381291237 |
179 | Q>* | No |
ClinGen TOPMed |
|
|
CA399850432 rs1381291237 |
179 | Q>K | No |
ClinGen TOPMed |
|
|
rs1400210063 CA399850425 |
179 | Q>R | No |
ClinGen gnomAD |
|
|
CA399850411 rs1363557190 |
180 | R>G | No |
ClinGen gnomAD |
|
|
CA399850401 rs1275962542 |
180 | R>H | No |
ClinGen TOPMed |
|
|
CA399850375 rs1446963599 |
181 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs755161819 CA8611449 |
182 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310966840 CA399850355 |
183 | L>P | No |
ClinGen TOPMed |
|
|
rs1178476087 CA399850324 |
185 | H>R | No |
ClinGen gnomAD |
|
|
CA8611436 rs746990684 |
186 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA399850282 rs1299986078 |
187 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8611434 rs770874199 |
190 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399850247 rs1457711633 |
193 | R>G | No |
ClinGen gnomAD |
|
|
CA399850245 rs562799190 |
193 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562799190 CA8611433 |
193 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399850246 rs1457711633 |
193 | R>W | No |
ClinGen gnomAD |
|
|
rs1195892910 CA399850241 |
194 | A>T | No |
ClinGen gnomAD |
|
|
rs34721135 CA290996805 |
194 | A>V | No |
ClinGen Ensembl |
|
|
rs778993028 CA8611432 |
197 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs919545948 CA290996795 |
197 | N>S | No |
ClinGen Ensembl |
|
|
CA399850223 rs778993028 |
197 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399850218 rs755177246 |
198 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611431 rs755177246 |
198 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs544175746 CA8611430 |
199 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399850203 rs1359967816 |
200 | S>G | No |
ClinGen gnomAD |
|
|
CA290996789 rs963956972 |
201 | K>E | No |
ClinGen TOPMed |
|
|
rs574021796 CA290996788 |
202 | M>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA8611429 rs780601908 |
206 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs756522339 CA8611428 |
207 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA290996783 rs1015128380 |
208 | K>R | No |
ClinGen Ensembl |
|
|
rs1487104948 CA399850135 |
209 | S>G | No |
ClinGen TOPMed |
|
|
CA8611426 rs768137231 |
209 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs954834248 CA290996776 |
213 | M>I | No |
ClinGen gnomAD |
|
|
rs762317335 CA8611425 |
213 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs752166413 CA8611424 |
216 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8611423 rs764758617 |
217 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8611422 rs759144026 |
218 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1439415321 CA399850079 |
218 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399850063 rs1420428737 |
220 | D>H | No |
ClinGen gnomAD |
|
|
rs1470685146 CA399850054 |
221 | M>L | No |
ClinGen TOPMed |
|
|
rs1490412798 CA399850038 |
223 | A>P | No |
ClinGen gnomAD |
|
|
rs1214210201 CA399850017 |
226 | L>F | No |
ClinGen gnomAD |
|
|
rs1352670945 CA399850014 |
226 | L>R | No |
ClinGen gnomAD |
|
|
CA8611399 rs369011780 |
229 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA399855058 rs1256255370 |
229 | E>K | No |
ClinGen gnomAD |
|
|
CA399855041 rs1598031334 |
230 | C>G | No |
ClinGen Ensembl |
|
|
rs1340361038 CA399855031 |
231 | D>N | No |
ClinGen gnomAD |
|
|
rs761692956 CA8611398 |
232 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399855003 rs1243134912 |
233 | S>A | No |
ClinGen gnomAD |
|
|
rs1169936515 CA399854995 |
234 | N>D | No |
ClinGen TOPMed |
|
|
rs1598031316 CA399854980 |
235 | N>D | No |
ClinGen Ensembl |
|
|
CA8611396 rs768673864 |
236 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749372209 CA8611395 |
237 | R>C | No |
ClinGen ExAC TOPMed |
|
|
rs769937396 CA8611394 |
237 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770156746 CA8611393 |
239 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA399854922 rs926603709 |
240 | G>R | No |
ClinGen gnomAD |
|
|
CA291045636 rs926603709 |
240 | G>R | No |
ClinGen gnomAD |
|
|
rs1461192528 CA399854914 |
241 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA291045633 rs567798651 |
243 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8611392 rs374799765 |
243 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745887969 CA8611391 |
244 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs745887969 CA291045630 |
244 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA399854860 rs1462604586 |
245 | E>G | No |
ClinGen gnomAD |
|
|
rs1198115177 CA399854832 |
247 | L>P | No |
ClinGen gnomAD |
|
|
CA8611388 rs564127237 |
248 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8611389 rs747519089 |
248 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611386 rs545901742 |
249 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8611385 rs545901742 |
249 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555790251 CA8611387 |
249 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291045626 rs955877479 |
252 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA291045624 rs962653015 |
252 | K>N | No |
ClinGen Ensembl |
|
|
CA399854782 rs369964222 |
253 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369964222 CA8611384 |
253 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA291045622 rs868394392 |
253 | R>W | No |
ClinGen gnomAD |
|
|
CA8611382 rs767261101 |
254 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs767261101 CA399854776 |
254 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs750046632 CA8611383 |
254 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291045618 rs375535684 |
255 | E>K | No |
ClinGen ESP |
|
|
CA8611380 rs774218398 |
257 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399854740 rs1199299243 |
258 | E>K | No |
ClinGen TOPMed |
|
|
CA399854727 rs1403259886 |
259 | I>L | No |
ClinGen gnomAD |
|
|
rs1376917342 CA399854721 |
259 | I>N | No |
ClinGen TOPMed |
|
|
CA399854710 rs1164013348 |
260 | F>V | No |
ClinGen gnomAD |
|
|
rs1446183099 CA399854691 |
261 | H>Q | No |
ClinGen gnomAD |
|
|
rs1160131157 CA399854694 |
261 | H>R | No |
ClinGen TOPMed |
|
|
rs1458434433 CA399854697 |
261 | H>Y | No |
ClinGen gnomAD |
|
|
rs762928297 CA8611378 |
262 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA399854666 rs1176523110 |
263 | Y>* | No |
ClinGen gnomAD |
|
|
rs775738774 CA8611377 |
264 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs775738774 CA399854659 |
264 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA8611375 rs201469185 |
266 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8611373 rs374964008 |
268 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368856948 CA8611372 |
268 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399854610 rs368856948 |
268 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8611370 rs772588454 |
269 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1598031081 CA399854577 |
271 | S>R | No |
ClinGen Ensembl |
|
|
CA8611367 rs755595318 |
273 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA8611368 rs542022368 |
273 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8611366 rs750097722 |
274 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs374167210 CA8611365 |
276 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399854496 rs1401219617 |
281 | D>G | No |
ClinGen gnomAD |
|
|
CA399854498 rs1158372703 |
281 | D>N | No |
ClinGen gnomAD |
|
|
rs1410016994 CA399854490 |
282 | Q>* | No |
ClinGen gnomAD |
|
|
CA291045600 rs897298175 |
282 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA291045598 rs371257563 |
283 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8611363 rs751386305 |
284 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567880335 CA399854472 |
285 | E>Q | No |
ClinGen Ensembl |
|
|
rs763019720 CA399854458 |
287 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763019720 CA8611361 |
287 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611359 rs200400202 |
291 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8611358 rs759675322 |
291 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611356 rs553438771 |
292 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8611355 rs760758489 |
294 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291045590 rs892598521 |
294 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1337870768 CA399854399 |
297 | Q>* | No |
ClinGen gnomAD |
|
|
rs1458844603 CA399854383 |
299 | Y>F | No |
ClinGen TOPMed |
|
|
CA8611354 rs773656383 |
299 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs748702074 CA8611352 |
303 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399854326 rs1598030731 |
306 | K>R | No |
ClinGen Ensembl |
|
|
CA399854315 rs1598030727 |
307 | Q>H | No |
ClinGen Ensembl |
|
|
CA8611310 rs761962007 |
313 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1163365436 CA399854273 |
314 | D>N | No |
ClinGen gnomAD |
|
|
rs369756937 CA8611308 |
315 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA291045505 rs1018614440 |
316 | F>L | No |
ClinGen TOPMed |
|
|
rs763559638 CA8611306 |
318 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA8611305 rs775842743 |
319 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1249224469 CA399854229 |
320 | L>M | No |
ClinGen gnomAD |
|
|
CA8611304 rs770532464 |
321 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611303 rs746497178 |
322 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA8611301 rs761464006 |
323 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293952370 CA399854203 |
324 | E>V | No |
ClinGen gnomAD |
|
|
CA8611299 rs778891034 |
325 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749304959 CA8611298 |
326 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749304959 CA8611297 |
326 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611295 rs779846560 |
327 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8611294 rs71373535 |
327 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149100170 CA8611293 |
329 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8611291 rs757504124 |
331 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751752313 CA8611290 |
333 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611287 rs559857396 |
338 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8611288 rs763217999 |
338 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA291045491 rs763217999 |
338 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs765667370 CA8611286 |
344 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399854067 rs1598030606 |
345 | H>P | No |
ClinGen Ensembl |
|
|
CA8611283 rs760064067 |
349 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291045485 rs375623406 |
349 | S>P | No |
ClinGen ESP |
|
|
CA399854024 rs1241323418 |
351 | S>F | No |
ClinGen gnomAD |
|
|
CA399854011 rs1294264803 |
353 | N>S | No |
ClinGen gnomAD |
|
|
CA399854002 rs1567879959 |
354 | T>I | No |
ClinGen Ensembl |
|
|
rs1239387542 CA399853970 |
359 | S>C | No |
ClinGen TOPMed |
|
|
rs1316719089 CA399853955 |
361 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8611279 rs368113799 |
361 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8611278 rs376384500 |
362 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399853949 rs1230490399 |
363 | G>R | No |
ClinGen TOPMed |
|
|
rs1291252273 CA399853944 |
363 | G>V | No |
ClinGen TOPMed |
|
|
CA291045479 rs905331149 |
364 | P>R | No |
ClinGen TOPMed |
|
|
CA8611276 rs749037603 |
367 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611274 rs769638916 |
368 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430927637 CA399853908 |
369 | A>D | No |
ClinGen gnomAD |
|
|
rs1006010992 CA291045476 |
369 | A>P | No |
ClinGen TOPMed |
|
|
CA291045475 rs1045826673 |
370 | Y>C | No |
ClinGen TOPMed |
|
|
rs1446179930 CA399853892 |
372 | R>G | No |
ClinGen gnomAD |
|
|
CA291045431 rs376005032 |
372 | R>S | No |
ClinGen gnomAD |
|
|
rs777851615 CA8611250 |
373 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA399853868 rs1567879749 |
374 | F>L | No |
ClinGen Ensembl |
|
|
CA399853856 rs1279657824 |
375 | A>V | No |
ClinGen TOPMed |
|
|
rs1045746136 CA291045427 |
378 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA8611246 rs779191448 |
379 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611245 rs754459321 |
379 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611244 rs754459321 |
379 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291045422 rs994181467 |
381 | V>A | No |
ClinGen Ensembl |
|
|
rs756630758 CA399853823 |
381 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756630758 CA8611242 |
381 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359164397 CA399853818 |
382 | E>Q | No |
ClinGen gnomAD |
|
|
rs868591545 CA291045420 |
385 | C>F | No |
ClinGen TOPMed |
|
|
CA399853794 rs868591545 |
385 | C>S | No |
ClinGen TOPMed |
|
|
CA399853786 rs1300513985 |
386 | W>* | No |
ClinGen TOPMed |
|
|
CA291045418 rs748396082 |
386 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA291045416 rs920442060 |
388 | G>R | No |
ClinGen TOPMed |
|
|
rs751053331 CA8611240 |
388 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA399853768 rs1371722294 |
389 | P>Q | No |
ClinGen gnomAD |
|
|
CA399853746 rs1440766703 |
392 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8611237 rs369992059 |
394 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779333500 CA291045410 |
397 | H>R | No |
ClinGen gnomAD |
|
|
CA399853707 rs1293484290 |
398 | G>A | No |
ClinGen gnomAD |
|
|
CA399853701 rs1405655202 |
399 | H>L | No |
ClinGen gnomAD |
|
|
rs770872601 CA8611232 |
400 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399853698 rs770872601 |
400 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399853686 rs1197515654 |
402 | T>A | No |
ClinGen gnomAD |
|
|
CA8611228 rs748373506 |
404 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs987095852 CA291045404 |
405 | I>N | No |
ClinGen TOPMed |
|
|
CA8611227 rs779188098 |
406 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA8611225 rs749683999 |
408 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755179990 CA8611226 |
408 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291045400 rs754648776 |
410 | V>M | No |
ClinGen Ensembl |
|
|
CA399853613 rs1344405340 |
414 | V>M | No |
ClinGen gnomAD |
|
|
CA8611222 rs200234852 |
415 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374160725 CA8611221 |
415 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8611219 rs757914564 |
416 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399853587 rs1401413935 |
418 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs752360452 CA399853571 |
420 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752360452 CA8611218 |
420 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765982184 CA8611202 |
422 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598029515 CA399853539 |
424 | Y>S | No |
ClinGen Ensembl |
|
|
CA399853529 rs1256296618 |
425 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399853522 rs1389777466 |
427 | I>L | No |
ClinGen TOPMed |
|
|
CA399853470 rs1228803208 |
434 | C>F | No |
ClinGen gnomAD |
|
|
CA291045095 rs961747651 |
435 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8611199 rs778349933 |
438 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA399853438 rs1598029482 |
439 | Q>R | No |
ClinGen Ensembl |
|
|
CA399853431 rs1383598932 |
440 | A>D | No |
ClinGen gnomAD |
|
|
CA399853433 rs1598029475 |
440 | A>P | No |
ClinGen Ensembl |
|
|
CA399853429 rs1383598932 |
440 | A>V | No |
ClinGen gnomAD |
|
|
rs1315928071 CA399853425 |
441 | A>V | No |
ClinGen Ensembl |
|
|
CA8611197 rs753460013 |
442 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs754660476 CA8611198 |
442 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1354120628 CA399853410 |
443 | A>V | No |
ClinGen gnomAD |
|
|
rs766216648 CA8611196 |
444 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8611195 rs760511132 |
444 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767499474 CA8611193 |
451 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479465456 CA399853346 |
453 | M>I | No |
ClinGen gnomAD |
|
|
CA8611191 rs774603827 |
454 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1598029406 CA399853334 |
455 | V>G | No |
ClinGen Ensembl |
|
|
rs376886793 CA8611190 |
457 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs775843276 CA8611189 |
458 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399853320 rs1289577927 |
458 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs775843276 CA8611188 |
458 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611185 rs746248697 |
460 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219095331 CA399853293 |
462 | P>L | No |
ClinGen TOPMed |
|
|
CA399853297 rs1372939209 |
462 | P>T | No |
ClinGen gnomAD |
|
|
CA399853281 rs1308834453 |
464 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA399853279 rs1308834453 |
464 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1250152102 CA399853277 |
465 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1163258936 CA399853266 |
466 | E>A | No |
ClinGen gnomAD |
|
|
CA8611183 rs771495236 |
468 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs747477723 CA8611182 |
471 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752846691 CA8611151 |
472 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA399853198 rs1300408234 |
475 | G>D | No |
ClinGen gnomAD |
|
|
rs759846666 CA8611149 |
475 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs766827336 CA8611147 |
476 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611148 rs776698052 |
476 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761029644 CA8611146 |
477 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1340077168 CA399853181 |
479 | V>L | No |
ClinGen TOPMed |
|
|
CA8611145 rs773505705 |
481 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs772586357 CA8611144 |
483 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399853147 rs713101 |
484 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775105592 CA8611142 |
485 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1170398206 CA399853139 |
485 | P>S | No |
ClinGen gnomAD |
|
|
rs921698929 CA291044828 |
486 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA399853135 rs921698929 |
486 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399853136 rs921698929 |
486 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8611140 rs745590354 |
486 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs374063213 CA291044826 |
488 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8611138 rs201248922 |
488 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611139 rs374063213 |
488 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399853110 rs1347371492 |
490 | E>D | No |
ClinGen gnomAD |
|
|
rs1343317074 CA399853116 |
490 | E>K | No |
ClinGen gnomAD |
|
|
rs1182012088 CA399853106 |
491 | D>Y | No |
ClinGen Ensembl |
|
|
CA8611136 rs777662031 |
493 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370582024 CA8611137 |
493 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1283110137 CA399853089 |
494 | A>S | No |
ClinGen gnomAD |
|
|
CA399853091 rs1283110137 |
494 | A>T | No |
ClinGen gnomAD |
|
|
rs202232138 CA8611135 |
496 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202232138 CA8611134 |
496 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755003328 CA399853068 |
498 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611131 rs753886887 |
498 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611132 rs755003328 |
498 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399853026 rs1422702300 |
503 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA399853033 rs1449550670 |
503 | E>K | No |
ClinGen TOPMed |
|
|
CA399853010 rs376940555 |
505 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399853009 rs1322806685 |
506 | E>K | No |
ClinGen TOPMed |
|
|
CA8611125 rs201091708 |
509 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399852976 rs1434442215 |
510 | E>Q | No |
ClinGen TOPMed |
|
|
CA399852966 rs1483473598 |
511 | E>G | No |
ClinGen gnomAD |
|
|
CA399852957 rs1598028388 |
512 | V>G | No |
ClinGen Ensembl |
|
|
rs993425523 CA399852952 |
513 | E>G | No |
ClinGen gnomAD |
|
|
CA291044812 rs993425523 |
513 | E>V | No |
ClinGen gnomAD |
|
|
CA399852949 rs1324584335 |
514 | A>T | No |
ClinGen TOPMed |
|
|
CA8611122 rs767836285 |
516 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA399852933 rs767836285 |
516 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1228457082 CA399852924 |
518 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8611120 rs774705676 |
518 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA399852918 rs1034442739 |
519 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA291044807 rs377736692 |
519 | R>Q | No |
ClinGen ESP gnomAD |
|
|
CA291044808 rs1034442739 |
519 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1309656132 CA399852911 |
520 | L>R | No |
ClinGen gnomAD |
|
|
rs1350675485 CA399852914 |
520 | L>V | No |
ClinGen gnomAD |
|
|
CA399852889 rs1447605199 |
522 | K>R | No |
ClinGen gnomAD |
|
|
CA399852884 rs1359923494 |
523 | Q>E | No |
ClinGen gnomAD |
|
|
CA399852879 rs768504307 |
523 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611090 rs768504307 |
523 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408550543 CA399852875 |
524 | I>N | No |
ClinGen gnomAD |
|
|
CA399852866 rs1370200058 |
525 | S>F | No |
ClinGen TOPMed |
|
|
CA8611088 rs780155227 |
526 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780155227 CA399852861 |
526 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399852864 rs1169776483 |
526 | P>S | No |
ClinGen gnomAD |
|
|
rs1179555423 CA399852850 |
528 | L>P | No |
ClinGen gnomAD |
|
|
rs750708676 CA8611086 |
529 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756172394 CA8611087 |
529 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399852838 rs1339805223 |
530 | A>V | No |
ClinGen gnomAD |
|
|
CA291044769 rs867370827 |
531 | L>M | No |
ClinGen TOPMed |
|
|
CA291044767 rs900302447 |
532 | A>S | No |
ClinGen Ensembl |
|
|
rs781396066 CA8611085 |
533 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380230461 CA399852796 |
537 | A>D | No |
ClinGen gnomAD |
|
|
CA8611083 rs751894420 |
537 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369413256 CA8611082 |
538 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399852792 rs1304795841 |
538 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs763410989 CA8611081 |
539 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611080 rs199969953 |
539 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399852780 rs766048881 |
541 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1042431298 CA291044759 |
541 | R>Q | No |
ClinGen TOPMed |
|
|
CA8611079 rs766048881 |
541 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1598028081 CA399852775 |
542 | T>A | No |
ClinGen Ensembl |
|
|
rs760260268 CA8611076 |
544 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA399852763 rs1422720556 |
544 | H>Y | No |
ClinGen gnomAD |
|
|
CA399852747 rs1480513201 |
546 | A>V | No |
ClinGen TOPMed |
|
|
rs537912422 CA8611075 |
547 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs537912422 CA399852743 |
547 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399852740 rs1481837647 |
548 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA399852737 rs1250833105 |
548 | N>S | No |
ClinGen gnomAD |
|
|
rs761484169 CA8611073 |
549 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369713593 CA291044754 |
549 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1322400592 CA399852717 |
551 | Q>H | No |
ClinGen gnomAD |
|
|
CA399852695 rs1226808640 |
554 | Q>H | No |
ClinGen gnomAD |
|
|
rs369950438 CA8611072 |
555 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399852677 rs1289402406 |
557 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs768472868 CA8611071 |
558 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293458732 CA399852668 |
559 | S>G | No |
ClinGen gnomAD |
|
|
rs769169030 CA399852660 |
560 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769169030 CA8611069 |
560 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611067 rs200411281 |
561 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8611066 rs745960150 |
561 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8611065 rs781201137 |
564 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs757453944 CA8611064 |
566 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA399852605 rs1209170472 |
568 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA399852599 rs1291277618 |
569 | E>V | No |
ClinGen gnomAD |
|
|
rs138594412 CA291044744 |
570 | A>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1490994126 CA399852577 |
571 | G>E | No |
ClinGen TOPMed |
|
|
rs1188515301 CA399852567 |
572 | N>K | No |
ClinGen gnomAD |
|
|
rs1013782802 CA291044608 |
574 | F>L | No |
ClinGen Ensembl |
|
|
rs1444282824 CA399852556 |
574 | F>S | No |
ClinGen gnomAD |
|
|
CA399852540 rs1250092139 |
576 | R>S | No |
ClinGen gnomAD |
|
|
rs1204834690 CA399852538 |
577 | H>Y | No |
ClinGen gnomAD |
|
|
CA399852529 rs1200568100 |
578 | N>D | No |
ClinGen TOPMed |
|
|
CA399852521 rs1483690653 |
579 | A>P | No |
ClinGen gnomAD |
|
|
rs1483690653 CA399852522 |
579 | A>T | No |
ClinGen gnomAD |
|
|
CA291044607 rs960505327 |
580 | R>C | No |
ClinGen gnomAD |
|
|
rs763820378 CA291044602 |
580 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763820378 CA399852514 |
580 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763820378 CA8611034 |
580 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283017933 CA399852499 |
583 | T>P | No |
ClinGen gnomAD |
|
|
CA399852498 rs1283017933 |
583 | T>S | No |
ClinGen gnomAD |
|
|
rs762542875 CA8611033 |
584 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs965211364 CA291044596 |
584 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs965211364 CA399852491 |
584 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA291044594 rs898121956 |
585 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA291044593 rs769088711 |
587 | P>L | No |
ClinGen gnomAD |
|
|
CA399852464 rs1476326255 |
589 | G>A | No |
ClinGen gnomAD |
|
|
rs377706395 CA291044591 |
589 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA399852455 rs1181967609 |
591 | R>Q | No |
ClinGen gnomAD |
|
|
rs1409989672 CA399852456 |
591 | R>W | No |
ClinGen gnomAD |
|
|
rs1235163971 CA399852446 |
592 | M>I | No |
ClinGen gnomAD |
|
|
rs201019272 CA8611029 |
597 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399852407 rs1209885208 |
598 | S>G | No |
ClinGen gnomAD |
|
|
rs1265835754 CA399852390 |
600 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399852371 rs1350892416 |
602 | M>I | No |
ClinGen gnomAD |
|
|
rs770985762 CA399852349 |
605 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770985762 CA8611028 |
605 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399852344 rs1336048395 |
606 | G>D | No |
ClinGen TOPMed |
|
|
CA399852338 rs1324328280 |
607 | C>Y | No |
ClinGen gnomAD |
|
|
rs551705599 CA291044586 |
608 | Q>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1158694659 CA399852325 |
609 | L>M | No |
ClinGen gnomAD |
|
|
rs1457903768 CA399852322 |
609 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA291044423 rs990011690 |
611 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399852150 rs1315120160 |
611 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1370449064 CA399852135 |
612 | L>W | No |
ClinGen gnomAD |
|
|
CA399852093 rs1428579585 |
614 | F>L | No |
ClinGen gnomAD |
|
|
rs372977919 CA291044419 |
615 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8611010 rs760483776 |
616 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs773378433 CA8611009 |
616 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA399852071 rs1212717224 |
617 | P>S | No |
ClinGen gnomAD |
|
|
rs1482062566 CA399852061 |
618 | G>D | No |
ClinGen gnomAD |
|
|
CA399852055 rs1221431615 |
619 | Y>H | No |
ClinGen TOPMed |
|
|
rs369005367 CA8611007 |
620 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8611005 rs774708015 |
625 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs374795547 CA8611004 |
625 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1370543857 CA399851974 |
626 | G>A | No |
ClinGen gnomAD |
|
|
CA399851981 rs1456068464 |
626 | G>R | No |
ClinGen TOPMed |
|
|
rs373378856 CA291044403 |
627 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs749674846 CA8611003 |
627 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162033357 CA399851952 |
629 | L>V | No |
ClinGen gnomAD |
|
|
CA399851948 rs1218938880 |
630 | V>I | No |
ClinGen gnomAD |
|
|
rs763552905 CA291044399 |
632 | G>R | No |
ClinGen gnomAD |
|
|
rs763552905 CA399851928 |
632 | G>W | No |
ClinGen gnomAD |
|
|
CA291044396 rs1023111249 |
633 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs746331187 CA8611001 |
636 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780232498 CA8611002 |
636 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA399851878 rs1263791370 |
637 | V>G | No |
ClinGen gnomAD |
|
|
CA8610999 rs777313442 |
637 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335786646 CA399851870 |
638 | L>Q | No |
ClinGen gnomAD |
|
|
rs1227013602 CA399851856 |
639 | K>N | No |
ClinGen gnomAD |
|
|
CA8610997 rs752414873 |
640 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA399851838 rs1393666351 |
641 | A>V | No |
ClinGen gnomAD |
|
|
rs778544386 CA8610996 |
642 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1374506759 CA399851837 |
642 | C>S | No |
ClinGen gnomAD |
|
|
rs540335039 CA8610993 |
644 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA8610995 rs754570508 |
644 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410987847 CA399851792 |
646 | P>R | No |
ClinGen gnomAD |
|
|
CA399851797 rs1370525753 |
646 | P>T | No |
ClinGen gnomAD |
|
|
CA399851789 rs1159515236 |
647 | D>N | No |
ClinGen gnomAD |
|
|
CA8610992 rs753693857 |
648 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA8610990 rs756122111 |
649 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598026826 CA399851743 |
651 | D>A | No |
ClinGen Ensembl |
|
|
CA399851746 rs1254896598 |
651 | D>Y | No |
ClinGen gnomAD |
|
|
VAR_035316 rs734921 |
652 | P>L | No |
UniProt dbSNP |
|
|
CA291044375 rs866076678 |
653 | E>K | No |
ClinGen gnomAD |
|
|
CA399851707 rs1241582184 |
655 | P>A | No |
ClinGen gnomAD |
|
|
rs926466387 CA291044373 |
657 | P>L | No |
ClinGen Ensembl |
|
|
rs761987821 CA8610987 |
657 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1301185465 CA399851676 |
658 | P>L | No |
ClinGen gnomAD |
|
|
rs1442200095 CA399851647 |
661 | T>I | No |
ClinGen gnomAD |
|
|
rs980617717 CA291044370 |
662 | L>I | No |
ClinGen Ensembl |
|
|
CA399851636 rs1327273465 |
663 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399851585 rs1598026630 |
666 | V>A | No |
ClinGen Ensembl |
|
|
CA8610966 rs763286635 |
666 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1417391733 CA399851543 |
671 | Q>K | No |
ClinGen gnomAD |
|
|
CA399851518 rs1476387494 |
673 | P>L | No |
ClinGen gnomAD |
|
|
CA8610965 rs775562554 |
674 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA291044300 rs905123178 |
674 | K>R | No |
ClinGen gnomAD |
|
|
rs1273131607 CA399851479 |
678 | E>K | No |
ClinGen gnomAD |
|
|
rs1353875887 CA399851447 |
680 | P>L | No |
ClinGen gnomAD |
|
|
rs1196997594 CA399851451 |
680 | P>S | No |
ClinGen gnomAD |
|
|
CA399851436 rs1233449936 |
681 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1336694182 CA399851428 |
682 | S>C | No |
ClinGen gnomAD |
|
|
rs555373807 CA8610964 |
683 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759825079 CA8610963 |
684 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1336247914 CA399851405 |
685 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8610962 rs776926838 |
687 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8610961 rs371251725 |
688 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1165928831 CA399851377 |
689 | R>C | No |
ClinGen gnomAD |
|
|
CA8610960 rs752606790 |
689 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368541443 CA8610959 |
690 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA399851371 rs1410239958 |
690 | I>V | No |
ClinGen gnomAD |
|
|
rs779574131 CA399851316 |
695 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs779574131 CA8610956 |
695 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1213952984 CA399851305 |
696 | P>R | No |
ClinGen gnomAD |
|
|
CA8610954 rs377130884 |
697 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748508782 CA8610951 |
699 | C>* | No |
ClinGen ExAC |
|
|
rs138793330 CA8610953 |
699 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399851272 rs1205245047 |
699 | C>W | No |
ClinGen gnomAD |
|
|
CA8610952 rs757298709 |
699 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA399851265 rs1281210907 |
700 | A>V | No |
ClinGen gnomAD |
|
|
CA8610946 rs202146937 |
701 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8610947 rs202146937 |
701 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199969264 CA8610948 |
701 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1386687086 CA399851207 |
706 | Y>C | No |
ClinGen gnomAD |
|
|
rs968219171 CA291044260 |
707 | V>L | No |
ClinGen Ensembl |
|
|
CA399851189 rs1401636384 |
708 | L>F | No |
ClinGen gnomAD |
|
|
CA291044258 rs1009677763 |
709 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1171352194 CA399851178 |
709 | N>S | No |
ClinGen gnomAD |
|
|
CA399851161 rs1393988940 |
710 | N>K | No |
ClinGen gnomAD |
|
|
rs1193680634 CA399851159 |
711 | G>S | No |
ClinGen gnomAD |
|
|
CA8610907 rs771938061 |
712 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA8610908 rs777577713 |
712 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1456005244 CA399851096 |
714 | P>S | No |
ClinGen TOPMed |
|
|
CA8610906 rs369687109 |
715 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199824275 CA8610905 |
715 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749295776 CA8610903 |
716 | W>R | No |
ClinGen ExAC |
|
|
CA8610902 rs780266188 |
717 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598026287 CA399851046 |
719 | T>P | No |
ClinGen Ensembl |
|
|
CA8610901 rs756278269 |
722 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8610900 rs750781415 |
722 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8610897 rs752093265 |
725 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8610899 rs373566385 |
725 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8610895 rs759122317 |
726 | A>D | No |
ClinGen ExAC TOPMed |
|
|
CA8610896 rs764908062 |
726 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs776224121 CA8610894 |
727 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399850916 rs1407147160 |
733 | R>Q | No |
ClinGen gnomAD |
|
|
CA8610891 rs772923840 |
733 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1177927858 CA399850902 |
735 | V>M | No |
ClinGen gnomAD |
|
|
rs1251161054 CA399850872 |
738 | D>Y | No |
ClinGen gnomAD |
|
|
rs376581308 CA8610889 |
739 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8610887 rs560072552 |
741 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399850833 rs1598026194 |
742 | T>P | No |
ClinGen Ensembl |
|
|
CA399850816 rs1237301363 |
743 | S>F | No |
ClinGen gnomAD |
|
|
CA291044159 rs540260792 |
744 | P>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA399850809 rs540260792 |
744 | P>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs372027629 CA8610886 |
745 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1225908250 CA399850793 |
746 | D>N | No |
ClinGen gnomAD |
|
|
CA399850755 rs1378488102 |
749 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1378488102 CA399850751 |
749 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399850735 rs1439762333 |
750 | Q>R | No |
ClinGen gnomAD |
|
|
CA399850718 rs1394737537 |
751 | F>L | No |
ClinGen gnomAD |
|
|
rs780065775 CA8610885 |
752 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8610881 rs757636869 |
754 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8610882 rs757636869 |
754 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8610880 rs557610659 |
755 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8610878 rs758927205 |
758 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs755649160 CA8610857 |
761 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598025979 CA399850587 |
762 | Y>S | No |
ClinGen Ensembl |
|
|
CA8610856 rs749841016 |
763 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399850579 rs749841016 |
763 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767217668 CA8610855 |
763 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA399850559 rs1338408294 |
765 | I>L | No |
ClinGen gnomAD |
|
|
CA399850549 rs1251520570 |
766 | H>Y | No |
ClinGen gnomAD |
|
|
rs1421337086 CA399850507 |
770 | K>R | No |
ClinGen TOPMed |
|
|
rs1292393581 CA399850496 |
771 | D>G | No |
ClinGen gnomAD |
|
|
CA8610854 rs763605606 |
771 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368321108 CA8610852 |
772 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375345131 CA8610850 |
773 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399850480 rs1390887867 |
773 | A>T | No |
ClinGen gnomAD |
|
|
rs375345131 CA291044065 |
773 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA291044058 rs375970055 |
777 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8610848 rs375970055 |
777 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA399850433 rs1474085653 |
778 | A>P | No |
ClinGen gnomAD |
|
|
CA399850422 rs1362550976 |
779 | T>A | No |
ClinGen gnomAD |
|
|
rs771010560 CA8610846 |
779 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1250544233 CA399850413 |
780 | L>F | No |
ClinGen gnomAD |
|
|
CA399850416 rs1250544233 |
780 | L>I | No |
ClinGen gnomAD |
|
|
rs1200166157 CA399850398 |
781 | F>L | No |
ClinGen gnomAD |
|
|
rs1567876565 CA399850403 |
781 | F>S | No |
ClinGen Ensembl |
|
|
rs947045091 CA291044053 |
782 | I>L | No |
ClinGen gnomAD |
|
|
rs546485347 CA8610845 |
785 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570502643 CA8610844 |
785 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8610841 rs552398305 |
786 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748453456 CA8610842 |
786 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8610840 rs755351020 |
788 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8610838 rs185243238 |
788 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs185243238 CA8610839 |
788 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399850325 rs1227809165 |
789 | S>P | No |
ClinGen gnomAD |
No associated diseases with Q8N3E9
6 regional properties for Q8N3E9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 644 - 769 | IPR000008 |
| domain | Phosphatidylinositol-specific phospholipase C, X domain | 337 - 483 | IPR000909 |
| domain | Phospholipase C, phosphatidylinositol-specific, Y domain | 528 - 644 | IPR001711 |
| domain | Pleckstrin homology domain | 65 - 174 | IPR001849 |
| binding_site | EF-Hand 1, calcium-binding site | 231 - 243 | IPR018247 |
| domain | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3, EF hand domain | 186 - 324 | IPR039504 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.4.11 | Phosphoric diester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cleavage furrow | The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| phosphatidylinositol phospholipase C activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1,2-diacylglycerol + 1D-myo-inositol 1,4,5-trisphosphate + H(+). |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| labyrinthine layer blood vessel development | The process whose specific outcome is the progression of a blood vessel of the labyrinthine layer of the placenta over time, from its formation to the mature structure. The embryonic vessels grow through the layer to come in close contact with the maternal blood supply. |
| lipid catabolic process | The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. |
| phosphatidylinositol-mediated signaling | The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
31 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32383 | PLC1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q1RML2 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Bos taurus (Bovine) | PR |
| P10895 | PLCD1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Bos taurus (Bovine) | SS |
| Q2VRL0 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Gallus gallus (Chicken) | PR |
| P16885 | PLCG2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 | Homo sapiens (Human) | SS |
| Q15111 | PLCL1 | Inactive phospholipase C-like protein 1 | Homo sapiens (Human) | PR |
| Q9UPR0 | PLCL2 | Inactive phospholipase C-like protein 2 | Homo sapiens (Human) | PR |
| Q86YW0 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Homo sapiens (Human) | PR |
| Q9BRC7 | PLCD4 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 | Homo sapiens (Human) | SS |
| P19174 | PLCG1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 | Homo sapiens (Human) | EV |
| Q00722 | PLCB2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 | Homo sapiens (Human) | EV |
| Q01970 | PLCB3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 | Homo sapiens (Human) | EV |
| Q9NQ66 | PLCB1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | Homo sapiens (Human) | EV |
| Q9P212 | PLCE1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | Homo sapiens (Human) | SS |
| P51178 | PLCD1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Homo sapiens (Human) | EV |
| Q15147 | PLCB4 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 | Homo sapiens (Human) | PR |
| Q8R3B1 | Plcd1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Mus musculus (Mouse) | SS |
| Q8K394 | Plcl2 | Inactive phospholipase C-like protein 2 | Mus musculus (Mouse) | PR |
| Q8K4S1 | Plce1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | Mus musculus (Mouse) | SS |
| Q8K2J0 | Plcd3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 | Mus musculus (Mouse) | PR |
| Q7YRU3 | PLCZ | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Sus scrofa (Pig) | PR |
| P10688 | Plcd1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Rattus norvegicus (Rat) | SS |
| Q99P84 | Plce1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | Rattus norvegicus (Rat) | EV |
| Q39032 | PLC1 | Phosphoinositide phospholipase C 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56W08 | PLC3 | Phosphoinositide phospholipase C 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6NMA7 | PLC9 | Phosphoinositide phospholipase C 9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8GV43 | PLC6 | Phosphoinositide phospholipase C 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q944C2 | PLC5 | Phosphoinositide phospholipase C 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9STZ3 | PLC8 | Phosphoinositide phospholipase C 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q944C1 | PLC4 | Phosphoinositide phospholipase C 4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| A5D6R3 | plcd3a | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3-A | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLCGRWRRCR | RPPEEPPVAA | QVAAQVAAPV | ALPSPPTPSD | GGTKRPGLRA | LKKMGLTEDE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DVRAMLRGSR | LRKIRSRTWH | KERLYRLQED | GLSVWFQRRI | PRAPSQHIFF | VQHIEAVREG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HQSEGLRRFG | GAFAPARCLT | IAFKGRRKNL | DLAAPTAEEA | QRWVRGLTKL | RARLDAMSQR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ERLDHWIHSY | LHRADSNQDS | KMSFKEIKSL | LRMVNVDMND | MYAYLLFKEC | DHSNNDRLEG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AEIEEFLRRL | LKRPELEEIF | HQYSGEDRVL | SAPELLEFLE | DQGEEGATLA | RAQQLIQTYE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LNETAKQHEL | MTLDGFMMYL | LSPEGAALDN | THTCVFQDMN | QPLAHYFISS | SHNTYLTDSQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IGGPSSTEAY | VRAFAQGCRC | VELDCWEGPG | GEPVIYHGHT | LTSKILFRDV | VQAVRDHAFT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LSPYPVILSL | ENHCGLEQQA | AMARHLCTIL | GDMLVTQALD | SPNPEELPSP | EQLKGRVLVK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GKKLPAARSE | DGRALSDREE | EEEDDEEEEE | EVEAAAQRRL | AKQISPELSA | LAVYCHATRL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RTLHPAPNAP | QPCQVSSLSE | RKAKKLIREA | GNSFVRHNAR | QLTRVYPLGL | RMNSANYSPQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EMWNSGCQLV | ALNFQTPGYE | MDLNAGRFLV | NGQCGYVLKP | ACLRQPDSTF | DPEYPGPPRT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TLSIQVLTAQ | QLPKLNAEKP | HSIVDPLVRI | EIHGVPADCA | RQETDYVLNN | GFNPRWGQTL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QFQLRAPELA | LVRFVVEDYD | ATSPNDFVGQ | FTLPLSSLKQ | GYRHIHLLSK | DGASLSPATL |
| FIQIRIQRS |