Q15147
PR
Gene name |
PLCB4 |
Protein name |
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 |
Names |
Phosphoinositide phospholipase C-beta-4, Phospholipase C-beta-4, PLC-beta-4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5332 |
EC number |
3.1.4.11: Phosphoric diester hydrolases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q15147
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q15147-F1 | Predicted | AlphaFoldDB |
663 variants for Q15147
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs6077510 RCV001594973 CA9760700 VAR_056694 RCV000990281 |
21 | A>T | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000149085 CA174319 rs193921109 |
136 | F>L | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs144345083 CA9760806 RCV001142880 |
141 | V>I | Variant assessed as Somatic; 0.0 impact. Auriculocondylar syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs759189106 RCV000190184 CA204169 |
150 | H>Y | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10653469 RCV000370808 rs886056980 |
179 | E>K | Variant assessed as Somatic; 0.0 impact. Auriculocondylar syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs532652161 RCV001198860 |
197 | D>E | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002558309 rs151335126 RCV001138133 CA9760877 |
203 | A>T | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000441988 RCV000276240 rs147655952 CA9760926 |
278 | D>V | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000024334 CA129861 rs387907179 |
329 | N>S | Auriculocondylar syndrome 2 (arcnd2) Auriculocondylar syndrome 2 Auriculocondylar syndrome 1 (arcnd1) [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000191052 rs387907179 CA204996 VAR_068559 |
329 | N>T | Auriculocondylar syndrome 2 (arcnd2) Auriculocondylar syndrome 1 Auriculocondylar syndrome 1 (arcnd1) ARCND2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000054839 rs397514769 CA144743 |
358 | E>V | Auriculocondylar syndrome 2 (arcnd2) Auriculocondylar syndrome 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514770 CA144746 RCV000054840 |
360 | D>N | Auriculocondylar syndrome 2 (arcnd2) Auriculocondylar syndrome 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514771 RCV000054841 CA144749 |
360 | D>V | Auriculocondylar syndrome 2 (arcnd2) Auriculocondylar syndrome 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2037778050 RCV001332615 |
375 | H>R | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002520031 CA9761076 rs142617224 RCV000327730 |
455 | K>R | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9761107 rs185740474 RCV000287556 |
488 | S>A | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA9761193 RCV000339105 rs369233949 |
568 | M>V | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000336305 CA9761252 rs530479821 |
617 | R>W | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000024336 RCV000191051 CA129866 VAR_068560 rs397514482 |
621 | R>C | Auriculocondylar syndrome 2 (arcnd2) Variant assessed as Somatic; impact. Auriculocondylar syndrome 2 Auriculocondylar syndrome 1 Auriculocondylar syndrome 1 (arcnd1) ARCND2 [Ensembl, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001249753 RCV002281044 rs397514481 VAR_068561 RCV000191053 RCV000024335 CA129863 RCV000623188 |
621 | R>H | Auriculocondylar syndrome 2 (arcnd2) Variant assessed as Somatic; impact. Auriculocondylar syndrome Auriculocondylar syndrome 2 Auriculocondylar syndrome 1 Inborn genetic diseases Auriculocondylar syndrome 1 (arcnd1) ARCND2 [Ensembl, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC NCI-TCGA dbSNP |
|
RCV000054838 CA144740 rs397514481 |
621 | R>L | Auriculocondylar syndrome 2 (arcnd2) Auriculocondylar syndrome 2 Auriculocondylar syndrome 1 (arcnd1) [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP |
|
RCV000191054 RCV000024333 CA129858 rs397514480 VAR_068562 |
623 | Y>C | Auriculocondylar syndrome 2 (arcnd2) Auriculocondylar syndrome 2 Auriculocondylar syndrome 1 Auriculocondylar syndrome 1 (arcnd1) ARCND2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001526544 RCV001592962 CA408212098 RCV001267076 rs1568763104 RCV000785953 |
630 | D>N | Auriculocondylar syndrome 2 (arcnd2) Variant assessed as Somatic; impact. Auriculocondylar syndrome 2 Inborn genetic diseases [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA408212100 RCV000782129 rs1568763104 |
630 | D>Y | Auriculocondylar syndrome 2 (arcnd2) Variant assessed as Somatic; impact. Uveal melanoma [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA129869 VAR_068563 RCV000191055 rs397514483 RCV000024337 |
650 | N>H | Auriculocondylar syndrome 2 (arcnd2) Auriculocondylar syndrome 2 Auriculocondylar syndrome 1 Auriculocondylar syndrome 1 (arcnd1) ARCND2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA9761276 rs772123872 RCV001142983 |
665 | F>Y | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9761333 RCV001138239 rs781222515 |
741 | R>C | Variant assessed as Somatic; 9.24e-05 impact. Auriculocondylar syndrome 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA9761414 rs151284195 RCV000363144 |
844 | I>V | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886056983 CA10652843 RCV000323692 |
867 | S>C | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs148347249 RCV000320100 RCV000878995 CA9761511 |
941 | S>Y | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001138666 rs2042882461 |
953 | M>T | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002523177 RCV000278123 rs141568926 CA9761542 |
967 | Q>R | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs377357771 RCV000884367 RCV000407375 CA9761577 |
998 | T>A | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000348413 rs530143044 CA10652845 |
1028 | I>T | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV000908010 RCV000403109 rs147312767 CA9761605 |
1029 | N>S | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA9761607 RCV001141244 rs779018136 |
1033 | A>S | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001141245 rs763122670 CA9761614 |
1056 | N>S | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs140050954 CA9761616 RCV001141246 |
1058 | H>Q | Auriculocondylar syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA311732318 rs867871202 |
2 | A>T | No |
ClinGen TOPMed |
|
|
CA9760693 rs774362677 |
3 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1461300446 CA408264474 |
4 | P>L | No |
ClinGen gnomAD |
|
|
CA311732321 rs868694525 |
9 | W>* | No |
ClinGen Ensembl |
|
|
rs748108248 CA9760694 |
12 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9760695 rs771962715 |
14 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA408264545 COSM3799801 rs771962715 |
14 | P>S | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs773057309 CA9760696 |
15 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773057309 CA311732322 |
15 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9760698 rs765476144 |
17 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA9760699 rs775714974 |
19 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs145938987 CA9760701 |
21 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1429350900 CA408264625 |
26 | Y>C | No |
ClinGen gnomAD |
|
|
CA408264629 rs1347048999 |
27 | E>K | No |
ClinGen gnomAD |
|
|
CA408210714 rs1281633866 |
31 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA311257110 rs79117673 |
34 | E>D | No |
ClinGen Ensembl |
|
|
rs775625121 CA9760716 |
36 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA311257145 rs867226171 |
38 | L>I | No |
ClinGen gnomAD |
|
|
CA408210760 rs867226171 |
38 | L>V | No |
ClinGen gnomAD |
|
|
CA408210766 rs1199426621 |
39 | F>V | No |
ClinGen TOPMed |
|
|
rs374145454 CA9760718 |
40 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408210792 rs556856040 |
42 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311257157 rs897976423 |
42 | D>Y | No |
ClinGen Ensembl |
|
|
CA311257181 rs976218226 |
52 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs768015317 CA9760721 |
53 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761071720 CA9760741 |
57 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408210916 rs1337773496 |
58 | Q>L | No |
ClinGen gnomAD |
|
|
CA408210919 rs1420206133 |
59 | V>M | No |
ClinGen TOPMed |
|
|
rs754226145 CA9760743 |
61 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA408210942 rs1601932925 |
62 | C>S | No |
ClinGen Ensembl |
|
|
rs1601932955 CA408210947 |
63 | S>P | No |
ClinGen Ensembl |
|
|
rs1327034536 CA408210961 |
64 | L>F | No |
ClinGen gnomAD |
|
|
rs760029353 CA408210988 |
66 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760029353 CA9760744 |
66 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369834145 CA9760747 |
69 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752324103 COSM3841601 CA9760746 |
69 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs777166485 CA9760749 |
70 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777166485 CA9760748 |
70 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429731758 CA408211079 |
73 | I>T | No |
ClinGen gnomAD |
|
|
CA408211093 rs1309237908 |
74 | P>R | No |
ClinGen TOPMed |
|
|
CA311257861 rs1016535633 |
74 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408211086 rs1016535633 |
74 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs755844306 CA9760772 |
77 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs901657158 CA311258461 |
79 | I>M | No |
ClinGen Ensembl |
|
|
rs144246653 CA311258479 |
83 | L>P | No |
ClinGen Ensembl |
|
|
rs139867288 CA9760773 |
83 | L>V | No |
ClinGen ESP ExAC |
|
|
rs749173982 CA9760774 |
84 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA311258492 rs866349378 |
85 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA311258497 rs929071645 |
90 | E>A | No |
ClinGen TOPMed |
|
|
rs929071645 CA408211223 |
90 | E>G | No |
ClinGen TOPMed |
|
|
CA408211221 rs1246660819 |
90 | E>Q | No |
ClinGen TOPMed |
|
|
rs1343433552 CA408211231 |
91 | N>S | No |
ClinGen gnomAD |
|
|
rs1386053333 CA408211237 |
92 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA408211249 rs1307400192 |
94 | E>Q | No |
ClinGen gnomAD |
|
|
CA408211264 rs778106111 |
96 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9760776 rs778106111 |
96 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758517534 CA9760775 |
96 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1284696827 CA408211266 |
97 | I>V | No |
ClinGen gnomAD |
|
|
rs1331267010 CA408211272 |
98 | V>I | No |
ClinGen TOPMed |
|
|
rs771168458 CA9760778 |
101 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs576789644 CA311258518 |
102 | S>T | No |
ClinGen Ensembl |
|
|
CA9760779 rs777212339 |
103 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs143225778 CA9760780 |
104 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1421412295 CA408211336 |
108 | N>D | No |
ClinGen gnomAD |
|
|
CA311258542 rs1005846972 |
111 | F>C | No |
ClinGen gnomAD |
|
|
CA9760782 rs775717770 |
112 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1425323930 CA408211371 |
113 | Y>H | No |
ClinGen gnomAD |
|
|
rs1568612928 CA408211394 |
116 | A>S | No |
ClinGen Ensembl |
|
|
rs1363986653 CA408211397 |
116 | A>V | No |
ClinGen gnomAD |
|
|
rs1031175453 CA311258563 |
117 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA408211410 rs1415319571 |
118 | N>S | No |
ClinGen TOPMed |
|
|
CA408211418 rs1568612993 |
119 | P>L | No |
ClinGen Ensembl |
|
|
CA9760784 rs763600240 |
119 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA408211424 rs1568613043 |
120 | E>D | No |
ClinGen Ensembl |
|
|
CA9760785 rs774082540 |
120 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA311258591 rs958289008 |
120 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs774082540 CA408211422 |
120 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1389639239 CA408211436 |
122 | T>I | No |
ClinGen gnomAD |
|
|
CA311258603 rs1003077490 |
123 | K>N | No |
ClinGen TOPMed |
|
|
CA311258594 rs906149051 |
123 | K>R | No |
ClinGen Ensembl |
|
|
CA408214378 rs1206055578 |
124 | Q>H | No |
ClinGen gnomAD |
|
|
rs1312240048 CA408214432 |
127 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9760802 rs765383360 |
128 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769067712 CA9760803 |
130 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239279733 CA408214486 |
130 | R>T | No |
ClinGen TOPMed |
|
|
rs1421969761 CA408214519 |
133 | I>K | No |
ClinGen gnomAD |
|
|
rs1476963366 CA408214524 |
134 | H>D | No |
ClinGen gnomAD |
|
|
rs773932943 CA9760804 |
139 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408214567 rs1429663789 |
140 | N>D | No |
ClinGen gnomAD |
|
|
rs1290082252 CA408214594 |
144 | M>V | No |
ClinGen gnomAD |
|
|
rs766179918 CA9760809 |
145 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1277976916 CA408214616 |
147 | L>V | No |
ClinGen gnomAD |
|
|
rs759189106 CA16043229 RCV000413955 |
150 | H>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV000443167 rs1057521489 CA16608485 |
151 | W>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs748552467 CA9760823 |
152 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA9760825 rs772874708 |
157 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs770481294 CA9760827 |
159 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs145492204 CA311273541 |
165 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1269929803 CA408214759 |
165 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1178786544 CA408214823 |
173 | F>Y | No |
ClinGen TOPMed |
|
|
rs267606065 CA311276278 |
176 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs868627354 CA311276264 |
176 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1017133020 CA311276284 |
187 | K>E | No |
ClinGen Ensembl |
|
|
CA408214937 rs765694096 |
190 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765694096 CA9760858 |
190 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408214950 rs1244478803 |
192 | P>H | No |
ClinGen gnomAD |
|
|
rs1244478803 CA408214951 |
192 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408214954 rs1354764815 |
193 | S>G | No |
ClinGen TOPMed |
|
|
CA9760859 rs753207913 |
193 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1373331462 CA408214967 |
195 | K>E | No |
ClinGen gnomAD |
|
|
CA408214993 rs1602180351 |
196 | N>K | No |
ClinGen Ensembl |
|
|
CA9760874 rs761560291 |
196 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA408214999 rs1446488862 |
197 | D>G | No |
ClinGen TOPMed |
|
|
rs1464974974 CA408215041 |
203 | A>V | No |
ClinGen gnomAD |
|
|
CA408215053 rs1387906236 |
205 | S>Y | No |
ClinGen TOPMed |
|
|
rs752833843 CA9760879 |
210 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9760880 rs145396163 |
213 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408215117 rs1386696553 |
214 | Q>R | No |
ClinGen TOPMed |
|
|
rs764551549 CA9760881 |
215 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1023472067 CA311276768 |
219 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs757589036 CA9760883 |
222 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA408215173 rs1469408649 |
223 | E>K | No |
ClinGen TOPMed |
|
|
CA408215183 rs1232369024 |
224 | D>N | No |
ClinGen gnomAD |
|
|
CA9760885 rs745516252 |
225 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA311276770 rs1056727590 |
226 | F>S | No |
ClinGen Ensembl |
|
|
CA9760886 rs755885635 |
227 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs982180732 CA311276780 |
228 | K>T | No |
ClinGen TOPMed |
|
|
rs1239363974 CA408215277 |
235 | D>E | No |
ClinGen gnomAD |
|
|
CA9760898 rs763071978 |
238 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762174635 CA9760901 |
242 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA408215323 rs1167130906 |
242 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9760913 rs769984862 |
249 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA408215607 rs1171194814 |
251 | R>* | Variant assessed as Somatic; 4.665e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs868574937 CA311280160 |
251 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9760914 rs775714925 |
253 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9760915 rs777301809 |
254 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA408215624 rs1359653868 |
254 | R>Q | No |
ClinGen gnomAD |
|
|
CA311280205 rs559717634 |
259 | L>* | No |
ClinGen 1000Genomes |
|
|
CA408215724 rs1382379541 |
265 | A>T | No |
ClinGen gnomAD |
|
|
CA9760918 rs762218499 |
265 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs528637538 CA9760919 |
266 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9760921 rs761141721 |
268 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA408215757 rs761141721 |
268 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753545108 CA9760923 |
269 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs766087912 CA311280253 |
269 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766087912 CA9760922 |
269 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235790551 CA408215804 |
272 | I>T | No |
ClinGen gnomAD |
|
|
rs754452365 CA9760924 |
273 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754452365 CA9760925 |
273 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432849364 CA408215820 |
274 | M>V | No |
ClinGen TOPMed |
|
|
CA408215882 rs1237476346 |
278 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs959022304 CA311280267 |
284 | K>E | No |
ClinGen gnomAD |
|
|
CA408215975 rs1476749156 |
285 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs773886321 CA9760943 |
286 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA408216209 rs1358304322 |
287 | I>M | No |
ClinGen gnomAD |
|
|
CA408216221 rs1418699766 |
289 | S>N | No |
ClinGen gnomAD |
|
|
rs1568699622 CA408216249 |
293 | C>Y | No |
ClinGen Ensembl |
|
|
rs1387624368 CA408216256 |
294 | R>K | No |
ClinGen TOPMed |
|
|
CA9760944 rs761053694 |
297 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1212471183 CA408216279 |
297 | M>T | No |
ClinGen gnomAD |
|
|
rs964443618 CA311282206 |
300 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9760947 rs777193842 |
302 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9760946 rs777193842 |
302 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408216317 rs1241046550 |
303 | P>S | No |
ClinGen gnomAD |
|
|
CA9760948 rs78074693 |
308 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9760949 rs752133699 |
308 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA408216359 rs1290366469 |
310 | E>* | No |
ClinGen gnomAD |
|
|
rs757937132 CA9760950 |
310 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA311282233 rs955567839 |
311 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA408216407 rs1602262622 |
316 | D>A | No |
ClinGen Ensembl |
|
|
rs751524868 CA9760952 |
318 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751524868 CA408216424 |
318 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311282242 rs1039852027 |
320 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9760954 rs780938669 |
321 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs554025972 CA9760955 |
322 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9760957 rs779210871 |
324 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA9760958 rs748111702 |
325 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1321987605 CA408216465 |
325 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9760962 rs771605816 |
333 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs771605816 CA9760963 |
333 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs775209954 CA9760966 |
338 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1458167407 CA408216621 |
339 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs951320452 CA311282297 |
340 | K>R | No |
ClinGen Ensembl |
|
|
rs763613208 CA9760968 |
341 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs754989547 CA9760969 |
342 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408216672 rs1602263389 |
343 | V>G | No |
ClinGen Ensembl |
|
|
CA408216663 rs1187603255 |
343 | V>I | No |
ClinGen gnomAD |
|
|
rs1369906363 CA408216703 |
345 | M>I | No |
ClinGen gnomAD |
|
|
CA408216713 rs1471600933 |
346 | Y>C | No |
ClinGen gnomAD |
|
|
rs1602263470 CA408216753 |
349 | V>G | No |
ClinGen Ensembl |
|
|
CA408217203 rs1413009869 |
357 | V>A | No |
ClinGen gnomAD |
|
|
rs1276054365 CA408217360 |
366 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA408217413 rs1189007709 |
369 | Q>* | No |
ClinGen TOPMed |
|
|
CA9760991 rs766174969 |
370 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs753616065 CA9760992 |
372 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408217472 rs1568711293 |
373 | I>V | No |
ClinGen Ensembl |
|
|
CA408217575 rs1389804392 |
379 | M>V | No |
ClinGen gnomAD |
|
|
CA311284004 rs865957150 |
381 | T>K | No |
ClinGen Ensembl |
|
|
rs953743518 CA311284017 |
384 | L>F | No |
ClinGen Ensembl |
|
|
CA9761023 rs373874403 |
389 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408218981 rs373874403 |
389 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408218996 rs1380930151 |
390 | Q>* | No |
ClinGen gnomAD |
|
|
CA9761026 rs756635232 |
392 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs543023193 CA9761028 |
394 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749591424 CA9761027 |
394 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA408219090 rs1388559816 |
396 | A>S | No |
ClinGen gnomAD |
|
|
CA408219120 rs1439999966 |
398 | V>I | No |
ClinGen gnomAD |
|
|
CA9761030 rs747777500 |
404 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA408219347 rs1321946789 |
413 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA408219348 rs1321946789 |
413 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408219524 rs1250769070 |
418 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1483701719 CA408219538 |
419 | K>E | No |
ClinGen gnomAD |
|
|
rs758055596 CA9761049 |
420 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1202866187 CA408219595 |
422 | K>N | No |
ClinGen TOPMed |
|
|
CA9761050 rs777303690 |
422 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781573659 CA408219609 |
423 | Y>C | No |
ClinGen gnomAD |
|
|
CA311285460 rs781573659 |
423 | Y>F | No |
ClinGen gnomAD |
|
|
CA9761052 rs770376711 |
425 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1169140634 CA408219664 |
428 | F>S | No |
ClinGen gnomAD |
|
|
rs1568718570 CA408219672 |
429 | G>A | No |
ClinGen Ensembl |
|
|
rs377059001 CA311285498 |
430 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs1320955153 CA408219683 |
431 | L>F | No |
ClinGen TOPMed |
|
|
rs769888055 CA9761055 |
435 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA311285499 rs1033988807 |
436 | A>V | No |
ClinGen Ensembl |
|
|
rs143544980 CA9761057 |
439 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408219744 rs1389520296 |
440 | H>Q | No |
ClinGen TOPMed |
|
|
rs1381752356 CA408219742 |
440 | H>R | No |
ClinGen TOPMed |
|
|
CA9761058 rs148072006 |
441 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1001930761 CA311286537 |
444 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9761073 rs372568895 |
446 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867329799 CA311286539 |
449 | P>S | No |
ClinGen Ensembl |
|
|
rs1210869938 CA408219906 |
451 | P>L | No |
ClinGen TOPMed |
|
|
rs548194772 CA9761075 |
452 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs867755017 CA311286544 |
453 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9761077 rs774253714 |
456 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA408219999 rs1235790812 |
459 | L>F | No |
ClinGen TOPMed |
|
|
rs866739265 CA311286547 |
463 | K>E | No |
ClinGen Ensembl |
|
|
CA408220059 rs760779011 |
464 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408220097 rs1426995009 |
467 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA311286548 rs992960959 |
467 | P>L | No |
ClinGen TOPMed |
|
|
CA9761079 rs771210046 |
468 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9761080 rs537756121 |
469 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759625352 CA9761081 |
471 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764724064 CA9761105 |
474 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA408220357 rs1296494541 |
483 | A>T | No |
ClinGen gnomAD |
|
|
CA311287300 rs976510616 |
485 | E>Q | No |
ClinGen TOPMed |
|
|
rs1200045846 CA408220418 |
488 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1436896654 CA408220423 |
489 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9761109 rs750125397 |
490 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA408220523 rs1417852261 |
496 | D>N | No |
ClinGen gnomAD |
|
|
rs765777275 CA9761111 |
501 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408220630 rs1335157171 |
503 | S>N | No |
ClinGen gnomAD |
|
|
CA408210456 rs1568743240 |
505 | D>Y | No |
ClinGen Ensembl |
|
|
CA408210467 rs1383685281 |
506 | Q>R | No |
ClinGen gnomAD |
|
|
CA9761128 rs760401247 |
507 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9761129 rs766115341 |
508 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1304922841 CA408210493 |
510 | A>T | No |
ClinGen gnomAD |
|
|
rs765044365 CA9761132 |
514 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs199831187 CA9761133 |
516 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201119760 CA311262951 |
516 | F>S | No |
ClinGen Ensembl |
|
|
CA408210542 rs1486424381 |
517 | G>R | No |
ClinGen gnomAD |
|
|
CA408210548 rs758378211 |
518 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9761134 rs758378211 |
518 | N>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1194355032 CA408210569 |
521 | S>P | No |
ClinGen gnomAD |
|
|
CA408210589 rs1227808387 |
524 | D>N | No |
ClinGen TOPMed |
|
|
rs1396895414 CA408210605 |
526 | G>R | No |
ClinGen gnomAD |
|
|
CA408210640 rs1330100054 |
531 | V>I | No |
ClinGen TOPMed |
|
|
rs777509266 CA9761135 |
532 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs372326743 CA9761136 |
534 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751160885 CA9761139 |
535 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768808024 CA9761141 |
535 | V>G | No |
ClinGen ExAC |
|
|
rs751160885 CA9761138 |
535 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387215551 CA408210673 |
536 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs748637547 CA9761143 |
537 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA9761180 rs552026343 |
538 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA408211459 rs1450581623 |
538 | G>V | No |
ClinGen Ensembl |
|
|
rs1054473683 CA311267926 |
540 | V>I | No |
ClinGen TOPMed |
|
|
CA408211472 rs1418910844 |
541 | T>S | No |
ClinGen TOPMed |
|
|
rs758583662 CA9761183 |
542 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9761184 rs778374209 |
543 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1187169692 CA408211505 |
546 | Q>E | No |
ClinGen TOPMed |
|
|
rs138509890 CA9761186 |
547 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9761187 rs138509890 |
547 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277951694 CA408211534 |
550 | A>T | No |
ClinGen gnomAD |
|
|
rs775125718 CA9761190 |
555 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1258068739 CA408211608 |
561 | I>V | No |
ClinGen TOPMed |
|
|
rs1171422274 CA408211632 |
564 | Y>C | No |
ClinGen gnomAD |
|
|
CA408211660 rs1414322616 |
568 | M>I | No |
ClinGen gnomAD |
|
|
rs1307415731 CA408211657 |
568 | M>T | No |
ClinGen TOPMed |
|
|
rs1347474766 CA408211686 |
572 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA408211702 rs1429153023 |
574 | P>S | No |
ClinGen gnomAD |
|
|
CA408211700 rs1429153023 |
574 | P>T | No |
ClinGen gnomAD |
|
|
CA9761196 rs773003801 |
575 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9761195 rs370637020 |
575 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760391675 CA9761197 |
578 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765517974 CA9761198 |
581 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752991809 CA9761199 |
583 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs751597030 CA9761220 |
586 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9761221 rs757285095 |
586 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311268486 rs867287962 |
587 | N>D | No |
ClinGen Ensembl |
|
|
CA9761222 rs768025566 |
587 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9761224 rs756656795 |
589 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs750913879 CA9761223 |
589 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9761225 rs780395190 |
591 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA408211836 rs1352971138 |
592 | M>T | No |
ClinGen gnomAD |
|
|
CA408211834 rs1568761189 |
592 | M>V | No |
ClinGen Ensembl |
|
|
CA408211855 rs1568761225 |
595 | F>V | No |
ClinGen Ensembl |
|
|
rs754570846 CA9761227 |
599 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442386608 CA408211888 |
600 | G>S | No |
ClinGen gnomAD |
|
|
CA9761229 rs747654961 |
603 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs747654961 CA408211910 |
603 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA311268596 rs368335202 |
605 | K>R | No |
ClinGen ESP gnomAD |
|
|
rs777393924 CA408211940 |
607 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348990684 CA408211935 |
607 | H>Y | No |
ClinGen TOPMed |
|
|
CA408211946 rs1339544065 |
608 | A>V | No |
ClinGen gnomAD |
|
|
CA311268614 rs1037593807 |
609 | I>T | No |
ClinGen TOPMed |
|
|
rs746910509 CA9761232 |
609 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA311268623 rs1005351191 |
612 | V>F | No |
ClinGen gnomAD |
|
|
CA408212018 rs1440960850 |
617 | R>Q | No |
ClinGen gnomAD |
|
|
CA9761255 rs397514482 |
621 | R>S | Auriculocondylar syndrome 2 (arcnd2) Auriculocondylar syndrome 1 (arcnd1) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA9761256 rs775402475 |
628 | R>* | No |
ClinGen ExAC |
|
|
RCV000523158 CA408212102 rs1555839474 |
630 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA408212189 rs773223036 |
641 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464534079 CA408212206 |
644 | C>Y | No |
ClinGen gnomAD |
|
|
rs760752046 CA9761260 |
649 | L>M | No |
ClinGen ExAC TOPMed |
|
|
rs1021841547 CA311268992 |
651 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1197940571 CA408212271 |
653 | T>I | No |
ClinGen gnomAD |
|
|
rs1197940571 CA408212269 |
653 | T>N | No |
ClinGen gnomAD |
|
|
rs1452739417 CA408212266 |
653 | T>P | No |
ClinGen gnomAD |
|
|
rs1409934825 CA408212306 |
657 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9761271 rs781223972 |
657 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA311270081 rs746394178 |
658 | M>I | No |
ClinGen Ensembl |
|
|
rs756146522 CA9761273 |
659 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA408212330 rs1251472099 |
660 | L>S | No |
ClinGen gnomAD |
|
|
rs577627133 CA9761275 |
661 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1254008513 CA408212343 |
662 | Q>L | No |
ClinGen TOPMed |
|
|
rs772123872 CA9761277 |
665 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs747043641 CA9761278 COSM3549533 |
670 | S>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA408212730 rs1173534044 |
680 | M>L | No |
ClinGen Ensembl |
|
|
rs1013854398 COSM3713344 CA311275869 |
682 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1485973570 CA408212746 |
682 | R>W | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1190046705 CA408212757 |
684 | D>Y | No |
ClinGen gnomAD |
|
|
rs557009311 CA311275876 |
685 | R>* | No |
ClinGen gnomAD |
|
|
rs749000875 CA9761293 |
686 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1602553121 CA408212783 |
688 | D>A | No |
ClinGen Ensembl |
|
|
rs778730272 CA9761295 |
688 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408212823 rs1368423069 |
694 | P>S | No |
ClinGen TOPMed |
|
|
rs1306586817 CA408212862 |
700 | A>P | No |
ClinGen gnomAD |
|
|
CA408212889 rs1341607523 |
704 | S>L | No |
ClinGen gnomAD |
|
|
CA408212897 rs1602553609 |
705 | V>A | No |
ClinGen Ensembl |
|
|
rs975186054 CA311276717 |
708 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA311276729 rs922293587 |
708 | I>M | No |
ClinGen Ensembl |
|
|
rs975186054 CA408212961 |
708 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs6118603 VAR_056695 CA311276739 |
710 | G>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA9761324 rs771814352 |
713 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408213050 rs1423446451 |
714 | S>L | No |
ClinGen gnomAD |
|
|
rs1415123416 CA408213102 |
718 | I>V | No |
ClinGen TOPMed |
|
|
rs1414243669 CA408213121 |
719 | G>D | No |
ClinGen gnomAD |
|
|
rs772944610 CA9761325 |
722 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9761326 rs760293668 |
723 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9761327 rs765883187 |
727 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9761328 rs753358084 |
728 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9761331 rs370308281 |
733 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA9761332 rs758219894 |
735 | R>C | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA311276775 rs267606066 |
737 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA408213339 rs1326914487 |
739 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9761334 rs750632084 |
741 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750632084 CA408213353 |
741 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311276794 rs1004438313 |
742 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA311276788 rs771033935 |
742 | M>V | No |
ClinGen Ensembl |
|
|
CA408213377 rs1218997055 |
743 | V>F | No |
ClinGen gnomAD |
|
|
CA9761335 rs756327197 |
745 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA311276816 rs1017129781 |
748 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9761336 rs780175747 |
749 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs749394841 CA9761337 |
751 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769222091 CA9761338 |
753 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321903144 CA408213547 |
754 | E>D | No |
ClinGen gnomAD |
|
|
rs200707813 CA311276835 |
756 | S>T | No |
ClinGen 1000Genomes |
|
|
rs1129250 CA9761340 |
757 | F>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1309548197 CA408213615 |
759 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA311276861 rs148851937 |
760 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408213680 rs1412647461 |
765 | P>L | No |
ClinGen gnomAD |
|
|
CA408213694 rs1436638915 |
768 | A>T | No |
ClinGen gnomAD |
|
|
rs1363935683 CA408213737 |
772 | I>M | No |
ClinGen gnomAD |
|
|
rs766575638 CA9761373 |
772 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs754091363 CA9761374 |
777 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1256912428 CA408213815 |
778 | N>D | No |
ClinGen gnomAD |
|
|
CA408213821 rs1347775804 |
778 | N>S | No |
ClinGen gnomAD |
|
|
rs972150856 CA311278449 |
787 | L>F | No |
ClinGen TOPMed |
|
|
rs1278495887 CA408213929 |
788 | P>L | No |
ClinGen gnomAD |
|
|
CA408213931 rs765407085 |
789 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9761376 rs765407085 |
789 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1449022652 CA408213956 |
793 | Q>E | No |
ClinGen gnomAD |
|
|
CA9761377 rs752885585 |
794 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9761380 rs747356766 |
795 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757638459 CA311278468 |
796 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA9761381 rs757581181 |
797 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9761382 rs781582090 |
797 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1458369911 CA408213992 |
799 | I>F | No |
ClinGen gnomAD |
|
|
rs1458369911 CA408213991 |
799 | I>V | No |
ClinGen gnomAD |
|
|
rs1418844892 CA408214003 |
800 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9761383 rs745489184 |
802 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9761385 rs199684222 |
805 | G>* | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs748759733 CA9761386 |
807 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA408214095 rs1318708492 |
809 | L>V | No |
ClinGen gnomAD |
|
|
CA9761387 rs768599791 |
814 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA408214170 rs1231518182 |
815 | F>S | No |
ClinGen gnomAD |
|
|
CA408214200 rs1388193868 |
817 | N>S | No |
ClinGen gnomAD |
|
|
rs866550292 CA311278507 |
825 | P>T | No |
ClinGen Ensembl |
|
|
CA9761409 rs768029939 |
832 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs748035916 CA9761411 |
833 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9761410 rs555641084 |
833 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA311285762 rs267606067 |
837 | D>N | No |
ClinGen Ensembl |
|
|
rs772196925 CA9761412 |
839 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs773086863 CA9761413 |
839 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA311285800 rs1046942 |
840 | K>T | No |
ClinGen Ensembl |
|
|
rs559433992 CA311285816 |
845 | T>A | No |
ClinGen Ensembl |
|
|
CA408215478 rs1250979602 |
845 | T>I | No |
ClinGen gnomAD |
|
|
CA408215506 rs1166219632 |
849 | A>E | No |
ClinGen gnomAD |
|
|
CA408215515 rs1366359719 |
850 | D>E | No |
ClinGen gnomAD |
|
|
rs775593530 CA9761416 |
851 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA311285836 rs937563733 |
853 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA408215551 rs1260901565 |
855 | M>I | No |
ClinGen TOPMed |
|
|
CA9761418 rs764045991 |
857 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408215561 rs764045991 |
857 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9761435 rs768980104 |
864 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768980104 CA408215758 |
864 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9761437 rs761884376 |
865 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408215799 rs1429517420 |
866 | P>R | No |
ClinGen TOPMed |
|
|
CA408215813 rs1462133142 |
867 | S>N | No |
ClinGen gnomAD |
|
|
CA408215823 rs1395517013 |
868 | D>H | No |
ClinGen gnomAD |
|
|
rs767971018 CA9761438 |
869 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9761439 rs773689663 |
874 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs761211630 CA9761440 |
875 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866533934 CA311286514 |
876 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA408215973 rs1312728965 |
878 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1211048198 CA408215997 |
880 | T>A | No |
ClinGen TOPMed |
|
|
rs1211048198 CA408215996 |
880 | T>P | No |
ClinGen TOPMed |
|
|
rs375191340 COSM3405305 CA9761444 |
881 | A>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs752111496 CA9761445 |
883 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA408216030 rs1208798875 |
885 | V>M | No |
ClinGen gnomAD |
|
|
rs746908264 CA9761448 |
887 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571360538 CA9761447 |
887 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9761446 rs571360538 |
887 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9761450 rs367967938 |
890 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs112585987 CA311286542 |
894 | R>K | No |
ClinGen Ensembl |
|
|
rs745688625 CA9761451 |
897 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9761452 rs768692260 |
898 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9761453 rs768692260 |
898 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1391152671 CA408216114 |
899 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM3723079 CA9761455 rs772111127 |
900 | A>S | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs773348219 CA9761456 |
901 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA311286565 rs986550672 |
906 | E>D | No |
ClinGen TOPMed |
|
|
CA9761459 rs766927069 |
907 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9761458 rs766927069 |
907 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9761483 rs763851584 |
911 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9761484 rs751046122 |
912 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA408216519 rs1309835742 |
912 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs950265228 CA311289539 |
913 | L>F | No |
ClinGen TOPMed |
|
|
CA311289547 rs144853204 |
914 | I>M | No |
ClinGen ESP gnomAD |
|
|
CA9761485 rs761414826 |
914 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9761486 rs767307863 |
916 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1179972125 CA408216602 |
918 | R>M | No |
ClinGen gnomAD |
|
|
CA408216607 rs1288663399 |
918 | R>S | No |
ClinGen gnomAD |
|
|
rs1319992188 CA408216620 |
919 | I>M | No |
ClinGen TOPMed |
|
|
CA408216617 rs1386513547 |
919 | I>T | No |
ClinGen TOPMed |
|
|
CA311289564 rs377623855 |
920 | E>Q | No |
ClinGen Ensembl |
|
|
rs1206303095 CA408216704 |
925 | M>L | No |
ClinGen gnomAD |
|
|
rs199578084 CA9761510 |
927 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408216806 rs1441788454 |
928 | Y>H | No |
ClinGen TOPMed |
|
|
CA408216834 rs1242764068 |
931 | H>R | No |
ClinGen gnomAD |
|
|
rs1212757728 CA408216881 |
937 | K>R | No |
ClinGen TOPMed |
|
|
rs754791708 CA9761512 |
944 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1602777274 CA408216930 |
944 | K>R | No |
ClinGen Ensembl |
|
|
rs1474942985 CA408216937 |
945 | K>R | No |
ClinGen gnomAD |
|
|
rs751771014 CA9761514 |
946 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9761515 rs541602393 |
947 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9761516 rs541602393 |
947 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9761517 rs745945452 |
948 | K>T | No |
ClinGen ExAC |
|
|
rs986528174 CA311294513 |
951 | S>G | No |
ClinGen TOPMed |
|
|
CA9761535 rs767634884 |
953 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1324573320 CA408218716 |
954 | Q>L | No |
ClinGen gnomAD |
|
|
rs1333354149 CA408218724 |
955 | K>M | No |
ClinGen gnomAD |
|
|
rs750474780 CA9761536 |
958 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408218752 rs756285034 |
959 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9761537 rs756285034 |
959 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9761538 rs756285034 |
959 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371521968 CA9761540 |
961 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1341120698 CA408218766 |
962 | D>N | No |
ClinGen TOPMed |
|
|
rs937482926 CA311294560 |
963 | K>E | No |
ClinGen Ensembl |
|
|
CA311294561 rs528769979 |
964 | I>T | No |
ClinGen 1000Genomes |
|
|
CA311294562 rs8183759 |
965 | V>G | No |
ClinGen Ensembl |
|
|
rs1350147393 CA408218787 |
965 | V>M | No |
ClinGen gnomAD |
|
|
CA9761545 rs746728907 |
968 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143440956 CA9761544 |
968 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1473292219 CA408218823 |
970 | K>R | No |
ClinGen gnomAD |
|
|
rs1362893535 CA408218827 |
971 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1362893535 CA408218828 |
971 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9761547 rs776187887 |
973 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770400599 CA9761546 |
973 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303142559 CA408218857 |
975 | H>R | No |
ClinGen gnomAD |
|
|
rs775286094 CA9761550 |
982 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408218911 rs1304917538 |
983 | M>V | No |
ClinGen gnomAD |
|
|
rs1475597049 CA408218942 |
986 | K>N | No |
ClinGen TOPMed |
|
|
CA408218935 rs1245867779 |
986 | K>Q | No |
ClinGen gnomAD |
|
|
rs267606068 CA311294623 |
987 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA408218943 rs548822315 |
987 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548822315 CA9761552 |
987 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408219763 rs1335445810 |
988 | G>R | No |
ClinGen TOPMed |
|
|
rs1025751965 CA311296186 |
991 | C>F | No |
ClinGen gnomAD |
|
|
rs1025751965 CA408219794 |
991 | C>Y | No |
ClinGen gnomAD |
|
|
COSM3423845 CA9761574 rs199973230 |
993 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9761575 rs753931051 |
994 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759712083 CA9761576 |
995 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs375342571 CA9761579 |
999 | E>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1384867981 CA408219928 |
1000 | I>V | No |
ClinGen TOPMed |
|
|
CA311296218 rs969584342 |
1001 | K>R | No |
ClinGen TOPMed |
|
|
CA408219957 rs1236507640 |
1002 | I>V | No |
ClinGen TOPMed |
|
|
rs1234822599 CA408219976 |
1003 | Q>R | No |
ClinGen gnomAD |
|
|
CA9761582 rs751930106 |
1004 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9761585 rs745332321 |
1008 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311296234 rs6108299 |
1011 | S>F | No |
ClinGen Ensembl |
|
|
CA9761586 rs765459486 |
1012 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311297153 rs995467834 |
1013 | V>I | No |
ClinGen Ensembl |
|
|
CA9761601 rs767917854 |
1016 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1426082103 CA408220183 |
1017 | V>I | No |
ClinGen TOPMed |
|
|
CA9761602 rs750044848 |
1019 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs377707845 CA9761603 |
1019 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1055435615 CA311297164 |
1021 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA408220235 rs1055435615 |
1021 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1206941576 CA408220280 |
1024 | W>S | No |
ClinGen TOPMed |
|
|
CA408220340 rs1409934298 |
1028 | I>F | No |
ClinGen gnomAD |
|
|
CA311297189 rs760972554 |
1031 | H>Q | No |
ClinGen Ensembl |
|
|
CA311297196 COSM3713346 rs953645857 |
1035 | E>K | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1290139665 CA408220476 |
1037 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA408220490 rs1310070344 |
1038 | I>V | No |
ClinGen TOPMed |
|
|
rs987765093 CA311297197 |
1039 | R>* | No |
ClinGen TOPMed |
|
|
rs150881165 CA9761608 |
1039 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408220518 rs1454691480 |
1040 | D>G | No |
ClinGen gnomAD |
|
|
CA408220512 rs1377407814 |
1040 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs771965557 CA9761609 |
1041 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1459856077 CA408220541 |
1042 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1013832082 CA311297203 |
1044 | S>R | No |
ClinGen TOPMed |
|
|
rs1490318294 CA408220616 |
1047 | C>Y | No |
ClinGen gnomAD |
|
|
CA408220649 rs1289015520 |
1049 | L>Q | No |
ClinGen gnomAD |
|
|
rs202045972 CA408220660 |
1051 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202045972 CA9761612 |
1051 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775362077 CA9761613 |
1051 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA408220687 rs1364905492 |
1055 | I>L | No |
ClinGen gnomAD |
|
|
rs1430382838 CA408220693 |
1056 | N>D | No |
ClinGen gnomAD |
|
|
CA9761615 rs764533501 |
1057 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA408220705 rs1440816826 |
1058 | H>D | No |
ClinGen gnomAD |
|
|
CA408220704 rs1440816826 |
1058 | H>N | No |
ClinGen gnomAD |
|
|
CA9761618 rs767863014 |
1059 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375126953 CA9761620 |
1063 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1602981106 CA408220764 |
1064 | Q>R | No |
ClinGen Ensembl |
|
|
rs1359145352 CA408220788 |
1066 | K>R | No |
ClinGen gnomAD |
|
|
CA408220811 rs1489197873 |
1068 | S>F | No |
ClinGen TOPMed |
|
|
rs1025257536 CA311275879 |
1073 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1240317649 CA408212457 |
1075 | E>* | No |
ClinGen gnomAD |
|
|
rs753499735 CA9761639 |
1076 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA408212472 rs1173070385 |
1077 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs759180836 CA408212473 |
1077 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs759180836 CA9761640 |
1077 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764830392 CA9761641 |
1079 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9761643 rs375933700 |
1081 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA311275932 rs151304334 |
1086 | E>K | No |
ClinGen Ensembl |
|
|
CA408212549 rs1322055051 |
1088 | S>N | No |
ClinGen TOPMed |
|
|
CA9761647 rs780888562 |
1089 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA311275954 rs947427027 |
1089 | K>R | No |
ClinGen Ensembl |
|
|
CA9761648 rs749520528 |
1090 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs748258467 CA9761651 |
1094 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9761652 rs772519326 |
1095 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773748548 CA9761653 |
1096 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386317866 CA408212609 |
1097 | I>V | No |
ClinGen TOPMed |
|
|
rs370272793 CA9761654 |
1100 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775720888 CA9761657 |
1103 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775720888 CA9761656 |
1103 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771325329 CA9761655 |
1103 | R>W | Variant assessed as Somatic; 4.648e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs865977771 CA311278329 |
1106 | R>* | No |
ClinGen Ensembl |
|
|
rs760014812 CA9761677 |
1106 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368570553 CA9761678 |
1110 | L>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs775258132 CA9761679 |
1113 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1446036575 CA408213057 |
1117 | K>N | No |
ClinGen TOPMed |
|
|
rs1250320136 CA408213252 |
1126 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA311278647 rs556431000 |
1127 | M>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs6056634 CA311278632 |
1127 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs6056634 CA9761703 |
1127 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9761704 rs746423641 |
1128 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746423641 CA9761705 |
1128 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9761706 rs776061898 |
1130 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs970435044 CA311278664 |
1134 | D>G | No |
ClinGen Ensembl |
|
|
rs184402554 CA9761707 |
1135 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408213385 rs1439369627 |
1135 | Q>L | No |
ClinGen TOPMed |
|
|
rs1439369627 CA408213387 |
1135 | Q>R | No |
ClinGen TOPMed |
|
|
CA408213421 rs1423086000 |
1138 | K>E | No |
ClinGen gnomAD |
|
|
CA9761708 rs768205786 |
1139 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1470335747 CA408213435 |
1139 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1404094137 CA408213454 |
1140 | Q>H | No |
ClinGen gnomAD |
|
|
rs773844589 CA9761709 |
1142 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs761259915 CA9761711 |
1145 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs761259915 CA9761710 |
1145 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408213546 rs1568917558 |
1148 | E>K | No |
ClinGen Ensembl |
|
|
rs1294113192 CA408213582 |
1150 | Q>H | No |
ClinGen TOPMed |
|
|
CA408213586 rs1294766037 |
1151 | N>D | No |
ClinGen gnomAD |
|
|
CA408213606 rs1238579979 |
1152 | E>G | No |
ClinGen TOPMed |
|
|
rs760674070 CA9761713 |
1152 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1224755058 CA634434282 |
1152 | E>R* | No |
ClinGen gnomAD |
|
|
rs1260872578 CA408213622 |
1153 | Q>R | No |
ClinGen gnomAD |
|
|
CA9761756 rs145676690 |
1154 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408214048 rs1215269949 |
1155 | K>E | No |
ClinGen gnomAD |
|
|
rs750491516 CA9761759 |
1157 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs201816701 CA311282274 |
1159 | Q>* | No |
ClinGen 1000Genomes |
|
|
CA408214136 rs1260130560 |
1160 | M>V | No |
ClinGen TOPMed |
|
|
CA408214151 rs1305812384 |
1161 | V>M | No |
ClinGen gnomAD |
|
|
CA9761762 rs754295464 |
1165 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755565691 CA9761763 |
1165 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9761765 rs753107422 |
1166 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408214260 rs1440379418 |
1167 | M>I | No |
ClinGen TOPMed |
|
|
rs1188180544 CA408214286 |
1169 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs533978785 CA9761766 |
1169 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1464645837 CA408214331 |
1172 | A>P | No |
ClinGen gnomAD |
|
|
rs1176712700 CA408214358 |
1173 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9761767 rs777422158 |
1174 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408214399 rs1467892015 |
1175 | V>E | No |
ClinGen Ensembl |
1 associated diseases with Q15147
[MIM: 614669]: Auriculocondylar syndrome 2 (ARCND2)
A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. {ECO:0000269|PubMed:22560091}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. {ECO:0000269|PubMed:22560091}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for Q15147
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 684 - 809 | IPR000008 |
| domain | Phosphatidylinositol-specific phospholipase C, X domain | 313 - 463 | IPR000909 |
| domain | Phospholipase C, phosphatidylinositol-specific, Y domain | 565 - 681 | IPR001711 |
| conserved_site | Phospholipase C-beta, conserved site | 914 - 955 | IPR009535 |
| domain | Phosphoinositide-specific phospholipase C, EF-hand-like domain | 216 - 301 | IPR015359 |
| domain | PLC-beta, PH domain | 12 - 143 | IPR037862 |
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 | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| 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(+). |
| phospholipase C activity | Catalysis of the reaction: a phospholipid + H2O = 1,2-diacylglycerol + a phosphatidate. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
| 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. |
27 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 |
| P10894 | PLCB1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | Bos taurus (Bovine) | SS |
| 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 |
| P19174 | PLCG1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 | Homo sapiens (Human) | EV |
| Q86YW0 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Homo sapiens (Human) | PR |
| Q9P212 | PLCE1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | Homo sapiens (Human) | SS |
| Q9BRC7 | PLCD4 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 | Homo sapiens (Human) | SS |
| Q15111 | PLCL1 | Inactive phospholipase C-like protein 1 | Homo sapiens (Human) | PR |
| P51178 | PLCD1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Homo sapiens (Human) | EV |
| Q9UPR0 | PLCL2 | Inactive phospholipase C-like protein 2 | Homo sapiens (Human) | PR |
| Q8N3E9 | PLCD3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 | Homo sapiens (Human) | SS |
| P16885 | PLCG2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 | Homo sapiens (Human) | SS |
| P51432 | Plcb3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 | Mus musculus (Mouse) | SS |
| A3KGF7 | Plcb2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 | Mus musculus (Mouse) | PR |
| Q9Z1B3 | Plcb1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | Mus musculus (Mouse) | SS |
| P10687 | Plcb1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | Rattus norvegicus (Rat) | SS |
| Q99JE6 | Plcb3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 | Rattus norvegicus (Rat) | SS |
| G5EBH0 | egl-8 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta egl-8 | Caenorhabditis elegans | SS |
| Q8GV43 | PLC6 | Phosphoinositide phospholipase C 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6NMA7 | PLC9 | Phosphoinositide phospholipase C 9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9STZ3 | PLC8 | Phosphoinositide phospholipase C 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56W08 | PLC3 | Phosphoinositide phospholipase C 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39032 | PLC1 | Phosphoinositide phospholipase C 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q944C2 | PLC5 | Phosphoinositide phospholipase C 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q944C1 | PLC4 | Phosphoinositide phospholipase C 4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAKPYEFNWQ | KEVPSFLQEG | AVFDRYEEES | FVFEPNCLFK | VDEFGFFLTW | RSEGKEGQVL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ECSLINSIRS | GAIPKDPKIL | AALEAVGKSE | NDLEGRIVCV | CSGTDLVNIS | FTYMVAENPE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VTKQWVEGLR | SIIHNFRANN | VSPMTCLKKH | WMKLAFMTNT | NGKIPVRSIT | RTFASGKTEK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VIFQALKELG | LPSGKNDEIE | PTAFSYEKFY | ELTQKICPRT | DIEDLFKKIN | GDKTDYLTVD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QLVSFLNEHQ | RDPRLNEILF | PFYDAKRAMQ | IIEMYEPDED | LKKKGLISSD | GFCRYLMSDE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NAPVFLDRLE | LYQEMDHPLA | HYFISSSHNT | YLTGRQFGGK | SSVEMYRQVL | LAGCRCVELD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CWDGKGEDQE | PIITHGKAMC | TDILFKDVIQ | AIKETAFVTS | EYPVILSFEN | HCSKYQQYKM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SKYCEDLFGD | LLLKQALESH | PLEPGRALPS | PNDLKRKILI | KNKRLKPEVE | KKQLEALRSM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MEAGESASPA | NILEDDNEEE | IESADQEEEA | HPEFKFGNEL | SADDLGHKEA | VANSVKKGLV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TVEDEQAWMA | SYKYVGATTN | IHPYLSTMIN | YAQPVKFQGF | HVAEERNIHY | NMSSFNESVG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LGYLKTHAIE | FVNYNKRQMS | RIYPKGGRVD | SSNYMPQIFW | NAGCQMVSLN | YQTPDLAMQL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NQGKFEYNGS | CGYLLKPDFM | RRPDRTFDPF | SETPVDGVIA | ATCSVQVISG | QFLSDKKIGT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YVEVDMYGLP | TDTIRKEFRT | RMVMNNGLNP | VYNEESFVFR | KVILPDLAVL | RIAVYDDNNK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LIGQRILPLD | GLQAGYRHIS | LRNEGNKPLS | LPTIFCNIVL | KTYVPDGFGD | IVDALSDPKK |
| 850 | 860 | 870 | 880 | 890 | 900 |
| FLSITEKRAD | QMRAMGIETS | DIADVPSDTS | KNDKKGKANT | AKANVTPQSS | SELRPTTTAA |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LASGVEAKKG | IELIPQVRIE | DLKQMKAYLK | HLKKQQKELN | SLKKKHAKEH | STMQKLHCTQ |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| VDKIVAQYDK | EKSTHEKILE | KAMKKKGGSN | CLEMKKETEI | KIQTLTSDHK | SKVKEIVAQH |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| TKEWSEMINT | HSAEEQEIRD | LHLSQQCELL | KKLLINAHEQ | QTQQLKLSHD | RESKEMRAHQ |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| AKISMENSKA | ISQDKSIKNK | AERERRVREL | NSSNTKKFLE | ERKRLAMKQS | KEMDQLKKVQ |
| 1150 | 1160 | 1170 | |||
| LEHLEFLEKQ | NEQAKEMQQM | VKLEAEMDRR | PATVV |