Q5JU85
EV
Gene name |
IQSEC2 (KIAA0522) |
Protein name |
IQ motif and SEC7 domain-containing protein 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23096 |
EC number |
|
Protein Class |
GUANYL-NUCLEOTIDE EXCHANGE FACTOR (PTHR10663) |
Descriptions
IQ motif and SEC7 domain-containing protein 2 (IQSEC2, also known as BRAG1) is a guanine nucleotide exchange factor (GEF) that is highly enriched in synapses. The autoinhibition of IQSEC2 is mediated by its IQ motif, which binds to apo-CaM and folds together with its Sec7-PH tandem, leading IQSEC2 to adopt a closed conformation in the absence of Ca2+. This autoinhibition is released by calcium binding, which triggers a conformational change that exposes the DH domain for activation.
Autoinhibitory domains (AIDs)
Target domain |
746-1083 (Sec7-PH domains) |
Relief mechanism |
Ligand binding |
Assay |
Structural analysis, Mutagenesis experiment, Split protein assay |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q5JU85
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6FAE | X-ray | 235 A | A | 729-1099 | PDB |
| AF-Q5JU85-F1 | Predicted | AlphaFoldDB |
1056 variants for Q5JU85
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1556880366 RCV002194412 |
6 | G>R | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001958364 rs2075428522 |
7 | P>S | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV002316116 rs1569342169 |
11 | P>S | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000656408 rs1556880284 |
19 | A>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327152 rs2075427734 |
25 | E>G | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001366432 rs2146553075 |
30 | I>T | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001959213 rs1397379867 RCV002272546 |
42 | R>Q | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2075426999 RCV001808993 |
46 | E>K | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2146552703 RCV002043423 |
49 | G>S | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1158391435 RCV001301308 |
53 | Q>R | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000622887 RCV000554930 CA10420224 rs782051125 RCV001720195 |
63 | E>G | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001925190 rs2075425330 |
75 | D>E | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA16043281 rs1057518272 RCV002058867 RCV000413374 |
83 | P>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001359058 RCV003227030 rs1556880243 |
85 | R>H | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002313593 rs781898764 |
109 | Q>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001332838 rs2075423571 |
114 | V>M | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA10420219 RCV000838575 rs781984542 RCV001087321 RCV002316568 |
115 | G>C | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001040925 rs2075423381 |
119 | R>G | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001895912 rs782770335 |
119 | R>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001879724 rs933120152 |
127 | E>G | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002568034 RCV001518683 rs1347714754 |
129 | V>M | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA413239449 RCV000647963 rs1556880174 |
131 | R>P | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001836941 rs1372592100 RCV002554417 RCV001059331 |
140 | P>L | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2146550650 RCV002014109 |
143 | D>V | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002104041 rs1308523144 |
145 | T>S | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001050795 rs1556880136 |
149 | A>V | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001047022 rs2075421810 |
152 | R>G | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001060738 rs2075421767 RCV002473186 |
154 | V>M | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1556880128 RCV001360174 |
155 | A>S | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2075420581 RCV001306093 |
163 | N>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001314810 rs1321322513 RCV001773629 |
166 | L>V | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002040000 rs2146550039 |
167 | G>D | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000811123 rs1602383045 |
181 | G>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000815571 RCV002348022 CA10606493 rs886044891 RCV000323891 |
187 | G>D | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001065239 rs1474659446 |
189 | S>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1003745171 RCV001868370 RCV002318158 |
190 | A>V | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001720033 CA16609193 rs782357394 RCV000437552 RCV000624706 RCV000926337 |
193 | G>A | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs2075419421 RCV001059352 |
197 | R>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002356764 RCV000945870 rs782439813 RCV000766097 CA10420213 RCV001821388 |
199 | P>L | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001217664 rs1556879985 |
207 | R>H | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001521643 rs1295281780 |
207 | R>S | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001211078 rs2075418559 |
209 | A>I | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001911939 rs2146548468 |
210 | S>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1037744173 RCV000542100 CA329903285 |
215 | P>S | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001041535 rs2075417861 |
220 | G>V | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2146547822 RCV001907385 |
236 | K>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1556873118 RCV001223858 |
244 | T>A | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000624024 RCV001215533 CA413172464 rs1556865202 |
249 | G>A | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000658331 RCV002397338 rs1470379713 |
257 | S>N | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001881985 rs2147129010 |
259 | A>T | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001878293 rs1556865162 |
260 | V>I | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000647957 CA10420144 rs368559547 |
268 | P>H | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002423112 RCV001953259 rs368559547 |
268 | P>R | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001266295 RCV000794024 rs886041481 RCV000401090 RCV000414905 CA10603504 |
269 | Y>missing | Intellectual disability, X-linked 1 Severe intellectual deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs782463684 RCV001927807 |
270 | R>Q | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1602293814 RCV001007874 |
270 | R>W | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs1556865113 RCV001002554 |
276 | P>T | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002568212 RCV001532688 rs1556865104 |
277 | S>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000695740 rs782660318 RCV003332234 |
283 | G>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM4110123 COSM4110121 rs1241595562 RCV000812196 COSM4110122 |
283 | G>A | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001919111 rs1241595562 |
283 | G>D | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs782531514 RCV001971739 RCV002281206 |
284 | P>T | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001265973 rs782660318 RCV001385380 |
286 | A>missing | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA658658990 RCV000555522 rs1556865060 |
288 | V>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
COSM4110119 rs990189482 COSM4110118 COSM4110120 RCV001586822 RCV002290729 |
297 | R>C | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001060894 RCV003405274 rs782768117 |
304 | A>S | Intellectual disability, X-linked 1 IQSEC2-related condition [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000990829 rs1602293475 |
313 | I>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2147127449 RCV002275665 |
315 | R>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001196313 rs2074458024 |
319 | L>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1556864973 RCV001907102 |
331 | D>N | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001935038 RCV001298413 rs2074444300 |
336 | M>I | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2074443830 RCV001252988 |
348 | R>C | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001222577 rs2074443766 |
350 | A>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000011612 CA281600 VAR_063742 rs267607188 |
359 | R>C | Intellectual disability, X-linked 1 XLID1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1602291861 RCV000815576 |
360 | Q>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002019720 COSM4110116 rs2147122803 COSM4110117 COSM4110115 |
363 | M>I | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
RCV001323764 rs2074442571 |
372 | S>T | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1556864672 RCV001349932 |
390 | M>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001297052 rs2074441863 |
391 | Q>K | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1602291658 RCV000791746 |
396 | E>* | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1569305431 RCV000754664 |
410 | P>missing | Autism spectrum disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001317614 COSM5127712 rs782441771 |
422 | R>Q | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001244373 rs2074439744 |
425 | R>Q | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003222264 RCV001227895 rs936261583 |
429 | G>E | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2147121012 RCV001930903 |
432 | Y>* | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM2968126 COSM2968125 RCV001860322 RCV000602599 rs1556864546 COSM2968127 CA413167684 |
447 | V>I | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. pancreas [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs2074437084 RCV001222126 |
464 | F>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001260740 rs2074385548 |
469 | K>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001948754 rs200182557 |
476 | D>N | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001912508 rs2147104281 RCV002267130 |
477 | E>K | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000647958 rs1556863457 CA658799752 |
479 | L>P | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001352199 rs782279475 |
490 | E>G | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2074383866 RCV001337763 |
492 | G>R | Intellectual disability, X-linked 1 [ClinVar] | Yes |
TOPMed ClinVar dbSNP |
|
rs2147103761 RCV002272929 |
495 | Q>* | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs370228504 RCV001057315 |
495 | Q>H | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000811012 rs782243346 |
499 | R>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001370987 rs782243346 |
499 | R>Q | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001516252 RCV002388570 rs202076203 RCV001532686 |
500 | E>Q | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2074383129 RCV001065366 |
506 | E>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA658799753 RCV000647961 rs1556863492 |
518 | L>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1569302816 RCV000696297 |
527 | Q>* | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001172010 rs2074381038 RCV001224338 |
529 | P>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000790432 RCV001091938 RCV003117580 rs1602284689 |
531 | R>* | Intellectual disability, X-linked 1 Intellectual disability [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000499862 rs149027201 RCV001722426 RCV000950935 CA10420035 |
531 | R>P | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs149027201 RCV000696833 |
531 | R>Q | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001910452 rs1389197755 |
537 | P>T | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001563667 rs1556863445 |
538 | P>A | IQSEC2-related X-linked neurodevelopmental disorder [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001934550 rs2147102395 |
538 | P>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001960123 rs2147102337 |
539 | P>R | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs782420335 RCV000817336 |
542 | R>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs782420335 RCV001517213 RCV002317375 CA10420029 RCV000608985 |
542 | R>Q | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000501694 rs1556863435 CA645373299 |
543 | P>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs2074379209 RCV001169943 |
546 | W>* | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs782469479 RCV002388627 RCV002073229 RCV001690444 |
550 | P>A | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000540202 rs1556863398 CA658658988 |
551 | L>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002013100 rs1296515292 |
552 | P>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002525979 RCV000481982 rs1064797066 CA16621446 |
552 | P>T | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs782165719 RCV001510307 |
553 | P>Q | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000795304 CA413164674 RCV000522826 rs1556863347 |
557 | P>A | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2074377782 RCV001962548 |
558 | V>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
CA658799751 RCV000598906 rs1556863340 RCV000647960 |
559 | P>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001305985 rs2074377574 |
559 | P>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1556863333 RCV001877004 |
562 | T>A | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001899249 rs2074377330 |
562 | T>I | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs1556863321 RCV000795977 |
563 | R>Q | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1188327285 RCV001910978 |
568 | R>H | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000691052 rs1569302404 |
571 | G>D | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000178834 rs797044752 CA246022 RCV001222587 RCV002317051 |
571 | G>S | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001958559 rs782585718 |
577 | G>R | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001334781 RCV001751654 rs369172518 |
582 | R>Q | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002526992 RCV000484983 CA16621445 rs1064797067 |
582 | R>W | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002400222 rs2074375518 RCV001037543 |
585 | R>Q | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001241371 rs2074374579 |
605 | D>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001809444 RCV000489894 CA413163358 rs1085307736 |
609 | R>C | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2074373583 RCV001258352 |
617 | R>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM5090335 RCV000499563 RCV001815334 rs1556863213 CA413163222 RCV002060119 |
617 | R>C | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2074372604 RCV001207591 |
629 | H>R | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001880999 rs2074372213 |
636 | G>V | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001384338 rs1556863165 |
642 | P>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1602283534 RCV000990828 |
656 | P>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000999449 RCV001199098 rs1602283451 |
665 | A>V | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs782321409 RCV001368756 |
667 | N>S | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003363043 RCV001034059 rs782244422 |
673 | S>N | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001054863 rs2074369642 |
676 | A>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001976407 rs1345618130 |
679 | R>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002020815 rs2147098048 COSM756943 COSM756942 COSM4862550 |
679 | R>W | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
rs797044889 RCV000190711 CA204699 |
684 | C>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781830206 RCV000533245 CA10419981 |
685 | E>K | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001516938 rs142545002 |
719 | D>E | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10419975 rs782745696 RCV002522548 RCV000432305 |
725 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001374932 rs2147096828 |
738 | T>K | Neurodevelopmental disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001913389 rs2147096800 |
741 | S>C | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2147096776 RCV001783485 |
742 | W>* | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001061833 rs781930433 |
744 | S>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2147096443 RCV001930667 |
754 | R>K | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001449955 RCV000299883 CA10603733 rs886041433 |
758 | R>* | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267607189 RCV000011611 VAR_063743 CA281598 |
758 | R>Q | Intellectual disability, X-linked 1 XLID1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2147089995 RCV002007605 |
769 | E>* | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000831091 RCV002448751 RCV001510763 rs192071369 CA10419946 |
778 | R>Q | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001385215 rs2147089642 |
779 | G>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220106 rs2074344245 |
781 | L>P | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
VAR_078260 rs875989799 CA10576119 RCV000211090 |
789 | A>V | Intellectual disability, X-linked 1 XLID1; decreased guanine nucleotide exchange factor activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001906985 rs1569300687 |
794 | E>* | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2147089214 RCV002015845 |
795 | R>Q | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000011610 CA121201 rs267607187 VAR_063744 |
801 | Q>P | Intellectual disability, X-linked 1 XLID1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA16609408 rs1060499660 RCV000449548 |
826 | M>T | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10419929 RCV000796578 RCV000428798 rs782099475 |
836 | A>V | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM4782664 rs2074336085 COSM1468541 COSM1468540 RCV001267012 |
838 | R>Q | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
RCV001262289 rs2074335877 |
840 | F>S | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2074335826 RCV001207832 |
842 | S>C | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs1556862441 RCV002036534 |
845 | R>Q | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
COSM3845011 COSM1468539 RCV000114357 rs587777261 CA286512 COSM1468538 |
855 | R>* | Intellectual disability, X-linked 1 Variant assessed as Somatic; HIGH impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2074335191 RCV002022087 |
859 | A>D | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
CA204825 RCV000190773 rs797044932 |
861 | S>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA247579 VAR_063745 RCV001260742 RCV000180207 rs267607186 RCV000011609 |
863 | R>W | Intellectual disability, X-linked 1 Intellectual disability XLID1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000896726 rs370830356 |
873 | R>H | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs782383669 RCV001800266 |
873 | R>S | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000819461 rs376739885 |
876 | R>Q | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1602277527 RCV001772178 RCV000984810 |
894 | D>N | Intellectual disability [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2147080510 RCV001516060 |
895 | M>T | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002272346 rs1461166570 RCV000762643 |
900 | V>I | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2074317421 RCV001248378 |
903 | E>Q | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001260743 RCV001204697 rs2074317360 |
904 | R>* | Intellectual disability, X-linked 1 Intellectual disability [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2147080183 RCV001962169 |
917 | G>R | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002273129 rs2147060656 |
924 | I>V | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000422126 CA16608946 rs1057520858 RCV000503313 |
926 | R>* | Intellectual disability, X-linked 1 Variant assessed as Somatic; HIGH impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1556861372 RCV001726290 RCV000647966 CA413154271 |
926 | R>Q | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1602271471 RCV000799410 RCV003396394 |
929 | L>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001522038 RCV001720054 rs782727618 RCV002436259 CA10419888 |
939 | R>H | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2074254630 RCV001290205 |
942 | R>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001775870 rs781808414 RCV000553327 RCV002530065 CA329164390 |
944 | N>S | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2147059978 RCV002250058 |
947 | H>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16043640 RCV000414794 rs1057518993 |
952 | Q>* | Autism [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001775505 rs1556861324 |
953 | A>T | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001346262 rs1556861319 |
956 | R>H | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2074253394 RCV001332837 RCV002438763 |
957 | M>L | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs2074253394 RCV003120855 RCV002252499 |
957 | M>V | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001007920 rs1602268775 |
965 | L>P | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2074227300 RCV001751505 RCV001247681 |
970 | R>C | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1556860937 RCV000762642 CA413149676 RCV000647965 RCV001266784 |
970 | R>H | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413149665 RCV000494394 rs1131691887 RCV001385379 |
971 | R>* | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001251779 CA10603495 RCV000369234 rs886041767 |
995 | R>Q | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1599579 RCV000425290 CA501123 COSM1123003 RCV001265942 RCV001048074 rs1057521657 COSM1123002 |
995 | R>W | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. endometrium Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002277643 rs2147049357 |
997 | V>G | Neurodevelopmental disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2147049209 RCV001775531 |
1002 | D>G | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2147033257 RCV001368624 |
1006 | V>F | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000990827 rs1602264353 |
1010 | F>I | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001343652 rs2074181844 |
1013 | K>R | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001253475 rs2074181394 |
1024 | S>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799992 rs1602264294 |
1025 | F>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853144 RCV000224400 CA10581466 |
1033 | Q>* | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001390525 rs2147032671 |
1036 | Q>* | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2147027403 RCV001817680 RCV002542700 RCV003223429 |
1055 | R>* | Intellectual disability, X-linked 1 Paraplegia-intellectual disability-hyperkeratosis syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1407117835 RCV000799102 |
1055 | R>Q | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001905419 rs973062974 |
1056 | K>E | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2074165930 RCV002545063 RCV001313708 |
1063 | A>V | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs367700660 RCV001206261 |
1065 | S>G | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP |
|
RCV002525130 rs782632137 RCV001225429 CA413146604 RCV000523266 |
1069 | R>P | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM457721 rs2074165173 COSM4814797 RCV001066063 COSM457722 |
1075 | D>N | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
RCV001296284 rs782569979 COSM1468535 RCV001091936 COSM1468534 COSM4786861 |
1077 | R>C | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001198118 rs782569979 |
1077 | R>S | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2147026571 RCV001388306 |
1080 | I>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782715847 RCV001768537 RCV003120665 |
1081 | A>V | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2074164267 RCV001351897 |
1090 | R>H | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001706777 rs2147015547 |
1095 | L>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001044514 rs868950692 |
1103 | R>W | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000615889 CA10419815 RCV001439076 rs782624844 |
1105 | N>S | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2074131912 RCV001325724 |
1106 | A>T | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1556859714 RCV001225494 |
1109 | P>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
COSM4949220 RCV001515997 RCV003283866 RCV000999445 rs782558010 COSM1468532 COSM1468533 |
1119 | T>M | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2074131194 RCV001070244 |
1121 | A>S | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs781964002 RCV001222575 |
1121 | A>V | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001289062 CA10419810 RCV000454304 RCV002313151 rs782697291 RCV001311388 RCV000647967 |
1122 | R>C | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002464494 rs868984872 RCV002049743 |
1122 | R>H | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs144128848 RCV001222852 |
1127 | D>V | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000686813 rs374220843 RCV001388883 |
1129 | Y>* | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002285028 rs1556859667 RCV001754852 |
1133 | D>N | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP gnomAD |
|
COSM3845003 COSM3845002 COSM3845004 rs1426916903 RCV001374212 |
1139 | A>T | Intellectual disability, X-linked 1 Variant assessed as Somatic; MODERATE impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001383066 RCV001568574 rs1556859652 |
1145 | R>* | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002018656 rs2074117985 |
1155 | R>G | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001347361 rs2074117985 RCV001571476 RCV001420264 |
1155 | R>W | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1300877733 RCV001034250 RCV002337078 |
1175 | R>C | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs782101524 RCV001702605 RCV001518595 |
1181 | P>S | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1556859338 RCV001976086 |
1185 | P>R | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1556859319 RCV001235300 |
1188 | P>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002189909 rs1193003776 |
1198 | V>I | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV003134399 rs2147005416 RCV002223590 |
1201 | S>F | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001380850 rs2147003883 |
1204 | F>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001870017 rs1556859281 |
1213 | R>P | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2074105508 RCV001224114 |
1222 | P>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1161354303 RCV001510789 |
1223 | P>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2147004930 RCV003332329 RCV001360179 |
1225 | T>I | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2147004797 RCV001934477 |
1228 | A>V | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001929688 rs782029247 |
1233 | S>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2147004455 RCV001968313 |
1241 | H>Y | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA413141178 rs1290683569 RCV000647955 |
1244 | H>Y | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16621441 RCV001712446 RCV002056767 rs782189881 |
1245 | H>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA10419777 RCV001704797 RCV000686977 rs782189881 |
1247 | H>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001512843 rs782189881 |
1247 | H>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569291699 RCV000736087 |
1273 | Q>* | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000798267 rs1602257496 |
1278 | A>T | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1414926823 RCV000702170 |
1279 | P>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs1569291627 RCV000761242 |
1292 | P>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569291627 RCV002250056 |
1293 | P>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001038976 rs782559635 RCV001267037 CA10419773 RCV000520389 |
1294 | P>T | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs782355048 RCV001794606 RCV002544319 RCV002544320 |
1299 | P>S | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1260004392 RCV001304469 |
1308 | P>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001316418 rs2074099302 |
1312 | S>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1569291523 RCV000702171 |
1315 | P>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003232500 RCV002252741 RCV001965620 rs1556859104 |
1320 | R>C | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001241640 rs2074098874 |
1320 | R>H | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA16608885 RCV000812666 rs1057521942 RCV000434159 |
1324 | A>T | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1602257111 RCV000850383 |
1339 | P>S | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000591768 CA329162019 rs957057964 RCV001294399 RCV002317334 |
1341 | R>K | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1359566569 RCV001895494 |
1345 | R>Q | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000792724 rs1333401052 |
1345 | R>W | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001782306 rs1064795512 RCV000697019 RCV000481040 CA16621437 |
1347 | A>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP ClinGen |
|
RCV001063266 RCV003226431 RCV001664652 rs1449945045 |
1350 | H>Q | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1033962543 RCV001306506 |
1351 | P>S | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001205965 rs782285127 |
1358 | R>H | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001264727 rs2074096700 |
1365 | T>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074096260 RCV001304443 |
1374 | A>T | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003166802 rs1556859050 RCV001315102 |
1377 | H>Y | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2074095926 RCV002023993 |
1382 | K>I | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA413139313 rs1556859040 RCV000546161 RCV002330935 |
1385 | P>S | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413139112 RCV001696970 rs1085307636 RCV002063833 |
1402 | A>T | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002332469 RCV000697904 rs1569291207 |
1406 | P>H | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001947029 rs2147001369 |
1407 | G>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2147001280 RCV001941294 |
1407 | G>A | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2074094532 RCV001368670 |
1410 | P>T | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs1400894251 RCV001252714 |
1417 | H>P | Microcephaly [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1556859015 RCV001210740 |
1418 | P>S | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001782307 rs2147000837 |
1429 | S>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001869677 RCV001817608 rs1232612010 RCV003407822 |
1430 | P>T | Intellectual disability, X-linked 1 IQSEC2-related condition [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001065487 rs2074091750 |
1442 | P>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2147000428 RCV001909957 |
1445 | P>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA413138444 RCV000647959 rs1556858946 |
1464 | S>C | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1602256252 RCV001909054 |
1464 | S>P | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002312143 rs191886831 RCV000537746 RCV000117285 RCV000428252 CA153185 |
1470 | A>T | Intellectual disability, X-linked 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001960652 rs2146999914 |
1471 | N>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001866217 rs1556858927 RCV001592119 |
1473 | P>L | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001251778 rs1569290954 RCV000736088 |
1474 | S>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001390466 rs2146999877 |
1474 | S>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA658658987 RCV000547957 rs1556858912 |
1480 | K>missing | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs2146999666 RCV002030880 |
1486 | T>I | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1064796639 RCV000487425 RCV001207694 CA16621435 |
1487 | V>M | Intellectual disability, X-linked 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| rs1188549561 | 2 | E>G | No | TOPMed | |
| rs2075428764 | 4 | G>R | No |
TOPMed gnomAD |
|
| rs1556880368 | 5 | S>A | No | Ensembl | |
| rs1556880359 | 7 | P>L | No | gnomAD | |
| rs1556880353 | 8 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
RCV001822039 rs1556880353 |
8 | P>R | No |
ClinVar dbSNP gnomAD |
|
| rs1556880348 | 9 | G>S | No | gnomAD | |
| rs1556880340 | 10 | G>V | No | gnomAD | |
| rs1556880334 | 12 | G>A | No | gnomAD | |
| rs2075427964 | 14 | E>V | No | TOPMed | |
| rs2075427917 | 15 | S>I | No | Ensembl | |
| rs1556880323 | 18 | R>Q | No | gnomAD | |
| TCGA novel | 22 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1602383763 | 22 | Y>D | No | Ensembl | |
| rs2075427643 | 32 | S>N | No | TOPMed | |
| rs1556880312 | 35 | Q>* | No | gnomAD | |
| rs2075427516 | 35 | Q>H | No | Ensembl | |
| rs1556880296 | 41 | R>W | No | gnomAD | |
| rs1418429478 | 51 | L>V | No |
TOPMed gnomAD |
|
| rs2075426780 | 53 | Q>K | No | gnomAD | |
| rs2075426581 | 59 | R>H | No | Ensembl | |
| rs1556880271 | 60 | D>E | No | gnomAD | |
| rs2075426126 | 65 | S>R | No | Ensembl | |
| rs1556880265 | 66 | Q>H | No | gnomAD | |
| TCGA novel | 69 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1385668401 | 69 | R>G | No |
TOPMed gnomAD |
|
| rs782740007 | 69 | R>L | No |
ExAC gnomAD |
|
| rs2075425778 | 71 | E>G | No | TOPMed | |
| rs2075425670 | 72 | L>Q | No | Ensembl | |
| rs2075425509 | 74 | R>L | No | Ensembl | |
| rs782805060 | 76 | P>S | No |
ExAC TOPMed gnomAD |
|
|
RCV002259486 rs2146551860 |
79 | A>T | No |
ClinVar Ensembl dbSNP |
|
| rs2075425096 | 80 | R>Q | No | Ensembl | |
| rs1556880243 | 85 | R>L | No | gnomAD | |
| rs1556880240 | 93 | R>H | No | gnomAD | |
|
CA16621447 rs1064793152 RCV000485376 |
99 | H>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2075424415 | 100 | R>C | No | Ensembl | |
| TCGA novel | 101 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1556880226 | 103 | R>Q | No | gnomAD | |
| rs1218198999 | 104 | E>K | No | Ensembl | |
| rs2075424039 | 105 | S>T | No | TOPMed | |
| rs2075423995 | 107 | F>C | No | TOPMed | |
| rs1488294313 | 111 | A>T | No | TOPMed | |
| rs868987547 | 111 | A>V | No | Ensembl | |
| rs1194282116 | 112 | R>P | No |
TOPMed gnomAD |
|
| rs1194282116 | 112 | R>Q | No |
TOPMed gnomAD |
|
|
TCGA novel rs2075423740 |
112 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1556880210 | 113 | D>E | No |
TOPMed gnomAD |
|
| rs1569341936 | 114 | V>A | No | Ensembl | |
| TCGA novel | 119 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1556880202 | 121 | G>S | No | gnomAD | |
| rs781902238 | 123 | Y>H | No | 1000Genomes | |
| rs1409156136 | 124 | Q>R | No |
TOPMed gnomAD |
|
| rs924550519 | 128 | A>V | No | Ensembl | |
| rs1457115939 | 130 | Y>F | No | gnomAD | |
| rs1556880168 | 134 | E>K | No | gnomAD | |
|
RCV001773861 rs2146550740 |
137 | A>T | No |
ClinVar Ensembl dbSNP |
|
| rs2075422536 | 139 | Y>H | No | Ensembl | |
| rs1556880159 | 140 | P>T | No | Ensembl | |
| rs1444473129 | 144 | T>N | No |
TOPMed gnomAD |
|
| rs782137657 | 148 | T>I | No |
1000Genomes ExAC gnomAD |
|
| rs2075422157 | 148 | T>S | No | Ensembl | |
|
rs1556880140 CA413239329 RCV000519765 |
149 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1556880130 | 150 | R>C | No |
TOPMed gnomAD |
|
| rs1556880130 | 150 | R>S | No |
TOPMed gnomAD |
|
| rs1556880127 | 156 | Q>* | No |
TOPMed gnomAD |
|
| rs1556880127 | 156 | Q>E | No |
TOPMed gnomAD |
|
| rs868939957 | 157 | C>F | No | Ensembl | |
| rs1556880122 | 158 | H>R | No | gnomAD | |
| rs1556880111 | 161 | H>Q | No | gnomAD | |
| rs868929691 | 161 | H>R | No | TOPMed | |
| rs1569341759 | 164 | P>S | No | Ensembl | |
| rs2075421247 | 165 | A>V | No |
TOPMed gnomAD |
|
| rs2075421141 | 167 | G>S | No |
TOPMed gnomAD |
|
| rs1214593518 | 168 | R>G | No | TOPMed | |
|
CA16043295 rs1057518254 RCV000414505 |
168 | R>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs958515225 | 169 | E>Q | No |
TOPMed gnomAD |
|
| rs1035844404 | 170 | R>H | No | Ensembl | |
| rs1556880083 | 173 | R>L | No | Ensembl | |
| rs1556880077 | 174 | E>G | No | Ensembl | |
| rs1569341689 | 176 | G>R | No | Ensembl | |
| rs1556880073 | 177 | P>T | No |
TOPMed gnomAD |
|
|
TCGA novel rs2075420405 |
178 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1233897072 | 181 | G>R | No |
TOPMed gnomAD |
|
| rs1471460021 | 182 | R>C | No | TOPMed | |
| rs1556880062 | 182 | R>L | No |
TOPMed gnomAD |
|
| rs1180431732 | 185 | E>K | No | TOPMed | |
| rs2075420048 | 186 | A>G | No | TOPMed | |
| rs2075420048 | 186 | A>V | No | TOPMed | |
| rs1556880056 | 188 | Y>C | No | gnomAD | |
| rs1003745171 | 190 | A>G | No |
TOPMed gnomAD |
|
| rs1556880040 | 191 | A>V | No | gnomAD | |
| rs1556880026 | 194 | V>A | No |
TOPMed gnomAD |
|
| rs1556880026 | 194 | V>G | No |
TOPMed gnomAD |
|
| rs2075419503 | 196 | P>L | No | TOPMed | |
|
rs2075419503 RCV002273440 |
196 | P>Q | No |
ClinVar TOPMed dbSNP |
|
| rs1556880024 | 196 | P>S | No | gnomAD | |
| rs1026418188 | 198 | P>S | No | gnomAD | |
| rs782439813 | 199 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs782439813 | 199 | P>R | No |
ExAC TOPMed gnomAD |
|
|
rs1602382928 RCV000836457 |
200 | R>G | No |
ClinVar Ensembl dbSNP |
|
| rs1057519497 | 200 | R>L | No | Ensembl | |
|
rs1057519497 CA16044281 RCV000416508 |
200 | R>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs782248548 | 201 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1378248672 | 202 | R>P | No | TOPMed | |
| rs1556879998 | 204 | Q>* | No | gnomAD | |
| rs1295281780 | 207 | R>C | No |
TOPMed gnomAD |
|
| rs1602382854 | 208 | G>D | No | Ensembl | |
| rs782319736 | 209 | A>S | No |
1000Genomes ExAC gnomAD |
|
| rs782319736 | 209 | A>T | No |
1000Genomes ExAC gnomAD |
|
| rs782237919 | 209 | A>V | No |
ExAC gnomAD |
|
| rs1316312798 | 210 | S>T | No | TOPMed | |
| rs1602382821 | 212 | S>G | No | Ensembl | |
|
RCV000497740 CA329903286 rs899393047 |
212 | S>N | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs1440029473 | 214 | S>N | No |
TOPMed gnomAD |
|
| rs1556879969 | 215 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2075418080 | 216 | G>S | No | TOPMed | |
| rs1208700189 | 217 | A>S | No | Ensembl | |
|
TCGA novel rs2075418007 |
217 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1237249097 | 218 | G>R | No |
TOPMed gnomAD |
|
| rs1237249097 | 218 | G>S | No |
TOPMed gnomAD |
|
| TCGA novel | 219 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1556879951 | 223 | T>S | No | gnomAD | |
| rs1419493135 | 225 | T>A | No | TOPMed | |
| rs933362001 | 229 | P>Q | No | Ensembl | |
| rs2075417474 | 229 | P>T | No | Ensembl | |
| rs1556879934 | 235 | R>K | No | gnomAD | |
|
rs2146425989 RCV002244479 |
238 | D>V | No |
ClinVar Ensembl dbSNP |
|
| rs2146425969 | 239 | G>A | No | Ensembl | |
| rs1556873120 | 243 | R>G | No | gnomAD | |
| rs933697690 | 248 | E>D | No | TOPMed | |
| rs1556865175 | 257 | S>R | No | gnomAD | |
| rs782759041 | 258 | T>A | No |
ExAC gnomAD |
|
| rs1556865171 | 258 | T>K | No | gnomAD | |
| rs782077832 | 259 | A>V | No |
ExAC gnomAD |
|
| rs1556865162 | 260 | V>F | No | gnomAD | |
| rs781999132 | 261 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs1556865153 | 265 | S>N | No | gnomAD | |
| rs1602293880 | 266 | Q>H | No | Ensembl | |
| rs12556365 | 267 | P>H | No | gnomAD | |
| rs12556365 | 267 | P>L | No | gnomAD | |
|
rs1602293823 RCV001008036 |
269 | Y>* | No |
ClinVar Ensembl dbSNP |
|
|
COSM5168101 rs886041481 |
269 | Y>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs782010142 | 272 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs782010142 | 272 | S>G | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 272 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782609666 | 275 | P>S | No |
ExAC gnomAD |
|
| rs782609666 | 275 | P>T | No |
ExAC gnomAD |
|
| rs782534407 | 276 | P>H | No | ExAC | |
|
RCV001767417 rs2147128288 |
279 | S>N | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 280 | H>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1556865090 | 280 | H>N | No |
TOPMed gnomAD |
|
| rs1556865090 | 280 | H>Y | No |
TOPMed gnomAD |
|
|
COSM4611501 COSM1468545 rs782660318 COSM1468544 |
283 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
rs782460038 COSM2968153 COSM2968155 COSM2968154 |
285 | P>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs781811683 | 285 | P>T | No |
ExAC gnomAD |
|
| TCGA novel | 286 | A>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1569306306 | 295 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
|
RCV001774656 COSM3694635 rs2147127878 COSM3694637 COSM3694636 |
295 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
RCV001008437 rs1602293563 |
296 | A>missing | No |
ClinVar dbSNP |
|
| rs782768117 | 304 | A>P | No |
ExAC gnomAD |
|
| rs782768117 | 304 | A>T | No |
ExAC gnomAD |
|
|
COSM1714990 COSM1714988 COSM1714989 |
304 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 309 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074458504 | 313 | I>L | No |
TOPMed gnomAD |
|
|
rs2074458321 COSM2968148 COSM2968149 COSM2968147 |
315 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs782109264 | 315 | R>H | No |
ExAC gnomAD |
|
| rs781897904 | 318 | A>T | No |
ExAC gnomAD |
|
|
COSM1714986 rs1196734452 |
320 | S>L | skin [Cosmic] | No |
cosmic curated TOPMed gnomAD |
|
CA10420122 RCV000501337 rs781915659 |
322 | S>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 324 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782141701 | 327 | T>I | No |
ExAC gnomAD |
|
| TCGA novel | 329 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782684044 | 339 | R>G | No |
ExAC gnomAD |
|
| rs2074444014 | 343 | G>C | No | Ensembl | |
|
COSM3562331 COSM3562332 COSM3562330 |
344 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM756938 COSM756939 COSM4692961 |
348 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1123020 COSM1123021 |
349 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1123019 COSM4864012 COSM1123018 |
351 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1556864731 | 354 | I>M | No | gnomAD | |
| rs2147122901 | 360 | Q>K | No | Ensembl | |
| rs1009285975 | 362 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM4650894 COSM4650893 COSM4650892 rs868913552 |
362 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs1009285975 | 362 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM6187170 COSM6187168 COSM6187169 |
363 | M>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2074443234 | 363 | M>V | No | TOPMed | |
| rs781882753 | 364 | N>S | No | ExAC | |
| rs1556864716 | 368 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1556864710 | 369 | R>Q | No |
TOPMed gnomAD |
|
| rs782769582 | 371 | R>C | No |
ExAC gnomAD |
|
|
COSM4857370 rs1556864700 COSM488468 COSM488469 |
371 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs782769582 | 371 | R>S | No |
ExAC gnomAD |
|
| rs1556864692 | 374 | A>V | No |
TOPMed gnomAD |
|
| TCGA novel | 377 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000193838 rs797045626 CA207587 |
378 | R>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2074442208 | 381 | R>H | No | Ensembl | |
| rs2074442056 | 389 | R>Q | No | TOPMed | |
|
rs1556864680 RCV001767020 |
389 | R>W | No |
ClinVar dbSNP gnomAD |
|
| TCGA novel | 390 | M>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782046394 | 394 | F>L | No |
ExAC gnomAD |
|
| TCGA novel | 397 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 398 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074441433 | 402 | N>S | No |
TOPMed gnomAD |
|
| rs1556864658 | 408 | G>D | No | gnomAD | |
| rs782629912 | 410 | P>T | No |
ExAC gnomAD |
|
| COSM5153548 | 411 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM457729 COSM4814509 COSM457730 |
412 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2074440807 | 414 | D>N | No | TOPMed | |
| rs868967563 | 415 | E>D | No | Ensembl | |
|
RCV002274686 rs2147121696 |
416 | G>V | No |
ClinVar Ensembl dbSNP |
|
| rs1171051884 | 417 | A>T | No | Ensembl | |
| rs1372242898 | 418 | M>I | No | TOPMed | |
| rs782572306 | 421 | A>G | No | ExAC | |
| rs2074440354 | 421 | A>T | No | Ensembl | |
| rs1412679309 | 422 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs781830397 | 423 | S>G | No | ExAC | |
| rs2074440033 | 423 | S>T | No | TOPMed | |
| rs1556864611 | 424 | H>P | No | gnomAD | |
| rs191802124 | 424 | H>Q | No |
1000Genomes TOPMed gnomAD |
|
| rs782665044 | 425 | R>W | No |
ExAC gnomAD |
|
| rs781910375 | 427 | E>* | No |
ExAC gnomAD |
|
| rs1356373374 | 428 | R>Q | No | TOPMed | |
| rs2074439452 | 428 | R>W | No | Ensembl | |
| rs2074438932 | 434 | G>A | No | TOPMed | |
| rs782802294 | 435 | S>F | No |
ExAC TOPMed gnomAD |
|
|
rs2147120894 RCV001584896 |
436 | C>Y | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 438 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074438720 | 438 | G>W | No | Ensembl | |
| rs2074438550 | 439 | G>V | No | gnomAD | |
|
TCGA novel rs2074438315 |
441 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1268508891 | 443 | G>D | No | TOPMed | |
|
rs2147120613 RCV001767747 |
449 | T>I | No |
ClinVar Ensembl dbSNP |
|
| rs1215741323 | 451 | G>A | No | Ensembl | |
|
COSM3845016 COSM3845017 COSM3845015 |
452 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM6119009 COSM6119010 COSM6119008 |
454 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 456 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782080818 | 457 | I>L | No |
ExAC gnomAD |
|
|
rs2074437274 RCV001091939 |
458 | T>R | No |
ClinVar Ensembl dbSNP |
|
|
rs2147120382 RCV001763329 |
459 | E>D | No |
ClinVar Ensembl dbSNP |
|
|
rs2074437028 RCV001268889 |
467 | Q>* | No |
ClinVar Ensembl dbSNP |
|
|
COSM6187173 rs2147120292 COSM6187171 COSM6187172 |
467 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1305761806 | 470 | S>C | No | TOPMed | |
| rs782086070 | 471 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2147104647 | 472 | A>V | No | Ensembl | |
| rs1391483038 | 473 | E>D | No | TOPMed | |
|
RCV001796947 rs2147104606 |
473 | E>K | No |
ClinVar Ensembl dbSNP |
|
| rs782738107 | 478 | A>S | No | ExAC | |
| rs2074384564 | 481 | C>W | No | Ensembl | |
| rs782074960 | 483 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed |
| rs782441668 | 484 | S>L | No |
ExAC gnomAD |
|
| rs2074384283 | 484 | S>P | No | Ensembl | |
| rs1556863543 | 485 | G>E | No | gnomAD | |
| rs2074384168 | 485 | G>R | No | TOPMed | |
| rs1569303019 | 486 | P>S | No |
TOPMed gnomAD |
|
| rs1569303019 | 486 | P>T | No |
TOPMed gnomAD |
|
| rs782279475 | 490 | E>V | No |
ExAC TOPMed gnomAD |
|
|
COSM1599574 COSM1123017 COSM1123016 |
492 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs782312462 | 493 | S>P | No |
1000Genomes ExAC gnomAD |
|
|
rs2147103761 RCV001756754 |
495 | Q>K | No |
ClinVar Ensembl dbSNP |
|
|
COSM4110109 COSM4110110 COSM4110111 |
497 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs782666080 | 498 | K>E | No |
ExAC gnomAD |
|
|
COSM4110106 COSM4110107 rs782603907 COSM4110108 |
499 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs912797030 | 503 | E>K | No | Ensembl | |
|
rs2074383291 RCV001268368 |
504 | Q>missing | No |
ClinVar dbSNP |
|
| rs1481060300 | 504 | Q>H | No |
TOPMed gnomAD |
|
| rs2147103439 | 506 | E>K | No | Ensembl | |
| rs1556863512 | 509 | S>P | No | gnomAD | |
| rs782565272 | 512 | S>P | No |
ExAC gnomAD |
|
| TCGA novel | 516 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074382820 | 516 | L>P | No |
TOPMed gnomAD |
|
| rs2074382725 | 517 | P>L | No | TOPMed | |
| rs868975310 | 517 | P>S | No | Ensembl | |
|
RCV002252777 rs987032967 RCV002249035 |
518 | L>P | No |
ClinVar Ensembl dbSNP |
|
| rs1602284818 | 520 | L>R | No | Ensembl | |
|
RCV000762644 rs1569302846 |
522 | D>E | No |
ClinVar Ensembl dbSNP |
|
| rs782712050 | 522 | D>G | No |
ExAC gnomAD |
|
| TCGA novel | 522 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782053178 | 524 | V>I | No |
ExAC gnomAD |
|
| rs1556863476 | 525 | P>S | No | gnomAD | |
| TCGA novel | 525 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1188849408 | 527 | Q>H | No |
TOPMed gnomAD |
|
| rs1245397105 | 530 | E>K | No |
TOPMed gnomAD |
|
| rs1556863462 | 533 | P>R | No | gnomAD | |
| rs782344913 | 536 | E>D | No |
ExAC gnomAD |
|
|
RCV001757138 rs2147102528 |
537 | P>H | No |
ClinVar Ensembl dbSNP |
|
| rs1556863445 | 538 | P>S | No | gnomAD | |
|
RCV002274424 rs2147102426 |
539 | P>missing | No |
ClinVar dbSNP |
|
| rs2147102310 | 540 | Q>P | No | Ensembl | |
| rs111533988 | 541 | G>D | No | Ensembl | |
| rs782434002 | 542 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2074379564 | 543 | P>S | No | TOPMed | |
| rs782227742 | 546 | W>G | No |
ExAC gnomAD |
|
| TCGA novel | 547 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1556863425 | 547 | A>G | No | gnomAD | |
| rs782594286 | 547 | A>P | No |
ExAC gnomAD |
|
| rs1556863425 | 547 | A>V | No | gnomAD | |
| rs2147101762 | 548 | P>A | No | Ensembl | |
| rs782664735 | 548 | P>L | No | ExAC | |
| rs2074378828 | 549 | A>D | No | Ensembl | |
| rs1556863404 | 549 | A>P | No | gnomAD | |
| rs781795472 | 551 | L>P | No |
ExAC gnomAD |
|
| rs782165719 | 553 | P>L | No |
ExAC TOPMed gnomAD |
|
|
CA10420019 rs781876521 RCV000521780 |
553 | P>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| rs1229869503 | 554 | V>L | No |
TOPMed gnomAD |
|
| rs1556863362 | 555 | P>R | No |
TOPMed gnomAD |
|
| TCGA novel | 555 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782014001 | 556 | P>L | No |
ExAC gnomAD |
|
| rs2074377946 | 556 | P>S | No | gnomAD | |
| rs782319860 | 558 | V>G | No |
ExAC gnomAD |
|
| rs2074377782 | 558 | V>M | No | TOPMed | |
| rs782448825 | 559 | P>S | No |
1000Genomes ExAC gnomAD |
|
| rs1556863333 | 562 | T>P | No | gnomAD | |
| rs1556863329 | 563 | R>G | No | gnomAD | |
|
rs2147100909 RCV001757881 |
564 | E>A | No |
ClinVar Ensembl dbSNP |
|
| rs782337187 | 565 | D>V | No |
ExAC gnomAD |
|
| rs782259574 | 566 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs782042272 | 566 | G>V | No |
ExAC gnomAD |
|
| TCGA novel | 567 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782411974 | 568 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1188327285 | 568 | R>L | No |
TOPMed gnomAD |
|
| rs1556863296 | 569 | E>K | No | gnomAD | |
| rs2074376418 | 570 | E>G | No | gnomAD | |
|
RCV001532685 rs2147100677 |
570 | E>K | No |
ClinVar Ensembl dbSNP |
|
| rs1569302404 | 571 | G>V | No | TOPMed | |
| rs1556863292 | 572 | T>S | No | gnomAD | |
|
COSM6187174 COSM6187176 COSM6187175 |
573 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2074376107 TCGA novel |
573 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1428805255 | 574 | R>K | No | TOPMed | |
| rs782480730 | 577 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs782480730 | 577 | G>V | No |
ExAC TOPMed gnomAD |
|
|
COSM6119012 COSM6119013 COSM6119011 |
578 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 585 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782643791 | 587 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1023497509 | 587 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1408217122 | 588 | A>S | No | TOPMed | |
| rs1556863262 | 592 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| TCGA novel | 593 | L>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782792403 | 596 | I>T | No |
ExAC gnomAD |
|
| TCGA novel | 598 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1556863251 | 602 | S>G | No | gnomAD | |
| rs1556863245 | 604 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM1123015 COSM1599575 COSM1123014 rs1556863238 |
609 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
COSM3562326 COSM3562325 COSM3562324 rs868951322 |
612 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
|
COSM5081536 rs1556863232 |
612 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
COSM756940 COSM756941 COSM4861415 |
613 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1556863218 | 615 | V>I | No |
1000Genomes gnomAD |
|
| rs1556863218 | 615 | V>L | No |
1000Genomes gnomAD |
|
| rs2074373791 | 616 | H>Y | No | TOPMed | |
| rs1299438032 | 617 | R>H | No |
TOPMed gnomAD |
|
| rs781886534 | 619 | L>R | No |
1000Genomes ExAC gnomAD |
|
| rs868919235 | 622 | E>G | No | Ensembl | |
| rs782073547 | 626 | C>G | No |
ExAC gnomAD |
|
|
RCV001091937 rs2074372905 |
627 | S>missing | No |
ClinVar dbSNP |
|
| rs1265009358 | 628 | P>L | No | TOPMed | |
|
COSM3562323 COSM3562321 COSM3562322 |
628 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2074372671 | 629 | H>Y | No | TOPMed | |
| rs1556863183 | 630 | G>V | No | gnomAD | |
| rs2074372213 | 636 | G>E | No | Ensembl | |
| rs781997325 | 636 | G>W | No |
ExAC gnomAD |
|
| rs1602283620 | 637 | P>L | No | Ensembl | |
| rs879946834 | 637 | P>S | No | Ensembl | |
| rs2074371954 | 640 | R>M | No | Ensembl | |
| rs2074371897 | 641 | A>S | No |
TOPMed gnomAD |
|
| rs2074371712 | 642 | P>L | No | TOPMed | |
| TCGA novel | 642 | P>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556863165 RCV000627522 CA658799750 |
643 | I>missing | No |
ClinGen ClinVar dbSNP |
|
| rs782155104 | 645 | H>P | No | ExAC | |
| rs1556863155 | 646 | R>C | No | gnomAD | |
| rs1556863146 | 648 | Y>S | No | Ensembl | |
| rs2074371173 | 651 | P>L | No | TOPMed | |
| rs2147098650 | 657 | A>G | No | Ensembl | |
| rs1487042494 | 661 | P>S | No |
TOPMed gnomAD |
|
|
COSM1599576 COSM1123013 COSM1123012 |
665 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1556863115 | 666 | P>S | No | gnomAD | |
| TCGA novel | 667 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556863103 CA413162647 RCV000497897 |
668 | S>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs782239609 | 668 | S>N | No |
ExAC gnomAD |
|
| rs782393827 | 672 | P>R | No |
ExAC gnomAD |
|
|
CA645373298 RCV000498651 rs1556863090 |
674 | G>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2074369821 | 674 | G>S | No | Ensembl | |
| rs1158291301 | 677 | G>A | No |
TOPMed gnomAD |
|
| rs1556863077 | 678 | G>D | No | gnomAD | |
| rs1345618130 | 679 | R>Q | No |
TOPMed gnomAD |
|
| rs1556863072 | 681 | L>V | No | Ensembl | |
| rs1556863063 | 682 | G>A | No | gnomAD | |
| rs782197950 | 682 | G>R | No |
ExAC gnomAD |
|
| rs2074368736 | 687 | A>S | No | gnomAD | |
| TCGA novel | 689 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074368589 | 689 | E>K | No | Ensembl | |
|
COSM4937915 COSM4937914 COSM4937916 |
695 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM2968100 COSM2968098 COSM2968099 |
697 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA413161055 RCV000522536 rs1556863043 |
700 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1556863042 | 704 | N>S | No | gnomAD | |
| rs2074368340 | 706 | N>S | No | TOPMed | |
| rs1556863033 | 711 | C>F | No | gnomAD | |
| rs2074367915 | 714 | G>D | No | TOPMed | |
| rs1556863027 | 714 | G>S | No | gnomAD | |
| rs781891681 | 716 | S>Y | No |
ExAC gnomAD |
|
| rs1348701976 | 718 | R>G | No |
TOPMed gnomAD |
|
| rs1569301770 | 718 | R>P | No | TOPMed | |
|
rs1569301770 RCV000728559 |
718 | R>Q | No |
ClinVar TOPMed dbSNP |
|
| rs1348701976 | 718 | R>W | No |
TOPMed gnomAD |
|
|
COSM3562319 COSM3562320 COSM3562318 |
725 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1556863005 | 726 | A>T | No | gnomAD | |
| rs782051149 | 728 | G>S | No |
1000Genomes TOPMed gnomAD |
|
| rs782134700 | 729 | L>V | No |
ExAC gnomAD |
|
| rs375000743 | 730 | C>R | No |
ESP ExAC gnomAD |
|
| rs1265169917 | 731 | K>E | No | Ensembl | |
| rs782418837 | 731 | K>N | No |
ExAC gnomAD |
|
|
RCV001420299 rs2147096963 |
735 | Q>* | No |
ClinVar Ensembl dbSNP |
|
| rs2074366750 | 736 | R>Q | No | TOPMed | |
|
rs1057524271 CA16608947 RCV000425209 |
736 | R>W | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs994568186 | 737 | E>K | No |
TOPMed gnomAD |
|
|
COSM1123009 COSM1123008 |
740 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2147096748 | 742 | W>C | No | Ensembl | |
| rs201284172 | 746 | A>G | No |
1000Genomes ExAC gnomAD |
|
| rs369615349 | 746 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs201284172 | 746 | A>V | No |
1000Genomes ExAC gnomAD |
|
| rs192749896 | 748 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 750 | D>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1176076620 | 753 | Q>R | No | TOPMed | |
|
CA413159554 RCV000497326 rs1556862958 |
760 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 760 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001420289 rs2147096232 |
764 | F>missing | No |
ClinVar dbSNP |
|
|
COSM462208 COSM462207 COSM4842989 |
769 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000294968 CA10603499 rs782517076 |
777 | E>* | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
RCV001754247 rs782517076 |
777 | E>K | No |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
| rs782517076 | 777 | E>Q | No |
1000Genomes ExAC gnomAD |
|
| rs2074344427 | 779 | G>S | No | gnomAD | |
| rs2147089467 | 785 | P>L | No | Ensembl | |
| rs2147089496 | 785 | P>T | No | Ensembl | |
| rs782370108 | 786 | V>L | No |
ExAC gnomAD |
|
| TCGA novel | 787 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001752243 rs2147089327 |
790 | H>P | No |
ClinVar Ensembl dbSNP |
|
| rs868977948 | 791 | F>L | No | Ensembl | |
| rs1569300687 | 794 | E>Q | No | Ensembl | |
|
COSM6187177 COSM6187179 COSM6187178 |
799 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 800 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs150014892 | 800 | R>Q | No |
ESP ExAC gnomAD |
|
|
RCV000477973 rs1064795421 CA16621444 |
803 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM3562317 COSM3562315 COSM3562316 |
808 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1229714689 | 810 | R>Q | No |
TOPMed gnomAD |
|
| rs1556862584 | 810 | R>W | No |
TOPMed gnomAD |
|
| rs781907354 | 814 | F>L | No |
ExAC gnomAD |
|
| rs1556862572 | 818 | V>M | No | gnomAD | |
| TCGA novel | 830 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782466918 | 834 | D>V | No | Ensembl | |
| rs2074336146 | 838 | R>W | No | TOPMed | |
| TCGA novel | 845 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074335459 | 855 | R>Q | No | Ensembl | |
|
COSM1714983 rs1376121300 COSM1714982 COSM1714984 |
858 | E>K | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA TOPMed |
| rs2074335191 | 859 | A>G | No | TOPMed | |
| rs781953324 | 863 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs782383669 | 873 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2074318452 | 874 | Q>R | No | Ensembl | |
| rs2074318325 | 876 | R>W | No | Ensembl | |
|
rs1602277592 RCV001009232 |
883 | I>missing | No |
ClinVar dbSNP |
|
|
rs2147080692 RCV001817291 |
886 | F>L | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 887 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1008028589 | 888 | I>V | No | Ensembl | |
| rs1556862175 | 896 | Y>H | No | gnomAD | |
| rs2074317625 | 898 | P>T | No | gnomAD | |
| rs1201345515 | 904 | R>Q | No |
TOPMed gnomAD |
|
| TCGA novel | 905 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1256425674 | 912 | I>V | No | TOPMed | |
| TCGA novel | 913 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 915 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs868928476 | 922 | E>* | No | Ensembl | |
| rs1556861378 | 925 | P>S | No | gnomAD | |
|
COSM1599577 COSM1123006 COSM1123007 |
927 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs868961555 | 931 | G>D | No | Ensembl | |
| TCGA novel | 935 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1556861369 | 935 | R>G | No | gnomAD | |
| rs2074255042 | 935 | R>H | No | Ensembl | |
|
RCV001806536 rs781835138 |
937 | Q>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1556861364 | 938 | G>V | No | gnomAD | |
| rs1274777810 | 939 | R>C | No |
TOPMed gnomAD |
|
| rs782651121 | 942 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes NCI-TCGA gnomAD |
|
COSM4846242 COSM4846240 COSM4846241 |
942 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs782427853 | 945 | D>E | No |
ExAC gnomAD |
|
| rs781977015 | 945 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs868967070 | 949 | S>F | No | Ensembl | |
| rs2074253728 | 952 | Q>H | No | Ensembl | |
| rs1556861322 | 953 | A>V | No | gnomAD | |
|
rs2147059598 RCV001797403 |
956 | R>C | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 961 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2147059468 | 963 | P>S | No | Ensembl | |
| rs1556860939 | 967 | L>P | No | gnomAD | |
| rs1643218285 | 972 | L>P | No | Ensembl | |
| rs781793896 | 973 | V>A | No |
ExAC gnomAD |
|
| TCGA novel | 974 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074227041 | 975 | C>Y | No | Ensembl | |
| rs1556860918 | 980 | E>K | No | gnomAD | |
| rs781869986 | 981 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs781869986 | 981 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 984 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000497736 CA413149249 rs1556860910 |
986 | R>C | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs782159168 | 986 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs781881272 | 987 | P>S | No |
ExAC gnomAD |
|
| rs782701676 | 991 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs782047010 | 992 | L>* | No |
ExAC gnomAD |
|
|
rs2147049519 RCV001765046 |
993 | H>Q | No |
ClinVar Ensembl dbSNP |
|
|
rs1602268620 RCV001008402 |
995 | R>missing | No |
ClinVar dbSNP |
|
| rs2074225859 | 996 | E>A | No | Ensembl | |
| rs2074225799 | 997 | V>I | No | TOPMed | |
|
rs1602268590 RCV000999447 |
999 | L>F | No |
ClinVar Ensembl dbSNP |
|
|
COSM4810761 COSM1315582 COSM1315583 |
1001 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1331804 COSM1331803 |
1008 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3800668 COSM3800669 COSM3800670 |
1011 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2088760071 | 1014 | K>M | No | TOPMed | |
|
rs1556860396 RCV001527331 |
1014 | K>missing | No |
ClinVar dbSNP |
|
| rs782659750 | 1015 | I>M | No |
ExAC gnomAD |
|
| rs2074181664 | 1016 | L>S | No |
TOPMed gnomAD |
|
|
COSM2968080 COSM2968079 COSM2968081 |
1018 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3992533 COSM3992535 COSM3992534 |
1020 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1599580 COSM1123000 COSM1123001 |
1022 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs782517888 | 1022 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
COSM3372291 COSM3372293 COSM3372292 |
1024 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM457723 COSM457724 COSM4815649 |
1028 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1085307618 CA413147570 RCV000489682 |
1028 | V>M | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs372552860 | 1033 | Q>H | No |
ESP ExAC gnomAD |
|
| rs782150168 | 1034 | L>F | No |
ExAC gnomAD |
|
| TCGA novel | 1036 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781935803 | 1039 | Y>H | No |
ExAC gnomAD |
|
|
COSM3562306 COSM3562307 COSM3562308 |
1043 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2074166608 | 1050 | V>A | No | Ensembl | |
| rs1556860192 | 1052 | G>D | No | gnomAD | |
| rs1346598387 | 1054 | E>K | No | TOPMed | |
| TCGA novel | 1056 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556860185 COSM1599581 COSM1122999 COSM1122998 |
1058 | L>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs782263065 | 1060 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs2147027152 | 1062 | N>S | No | Ensembl | |
| TCGA novel | 1066 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1068 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1319430 rs782632137 COSM1319431 RCV002279735 RCV001819958 RCV002462883 |
1069 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1599583 COSM1122994 COSM1122995 |
1071 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1227337625 | 1073 | T>A | No | TOPMed | |
| rs2074165313 | 1073 | T>I | No | TOPMed | |
| rs2074164946 | 1080 | I>V | No | TOPMed | |
| rs1264770825 | 1081 | A>T | No |
TOPMed gnomAD |
|
|
RCV000484641 CA16621443 rs1064796614 |
1084 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1556860131 | 1089 | Y>* | No | gnomAD | |
| rs1556859744 | 1093 | S>L | No | gnomAD | |
| rs1318673146 | 1100 | G>S | No |
TOPMed gnomAD |
|
| rs782189572 | 1101 | M>T | No | ExAC | |
| rs1556859740 | 1103 | R>Q | No | gnomAD | |
| rs1556859737 | 1104 | P>L | No | gnomAD | |
| rs2074132190 | 1104 | P>T | No | Ensembl | |
| rs782474044 | 1105 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs1225065604 | 1106 | A>G | No |
TOPMed gnomAD |
|
| rs1556859717 | 1108 | Q>* | No | gnomAD | |
| rs1556859713 | 1112 | A>T | No | gnomAD | |
| TCGA novel | 1112 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1480385226 | 1113 | K>Q | No |
TOPMed gnomAD |
|
| rs782620019 | 1113 | K>R | No |
ExAC gnomAD |
|
| rs1556859703 | 1116 | V>M | No | gnomAD | |
| rs781964002 | 1121 | A>D | No |
TOPMed gnomAD |
|
|
COSM6187185 COSM6187184 COSM6187183 |
1126 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001263280 rs2074130698 |
1129 | Y>F | No |
ClinVar Ensembl dbSNP |
|
| rs1163455818 | 1130 | G>R | No |
TOPMed gnomAD |
|
| rs2074130183 | 1131 | A>V | No | TOPMed | |
|
COSM4110092 COSM4110093 COSM4110091 |
1136 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs868960318 | 1137 | R>L | No | Ensembl | |
| rs2074129855 | 1137 | R>W | No | Ensembl | |
| rs12848270 | 1139 | A>G | No | Ensembl | |
| rs2074129310 | 1141 | S>N | No | gnomAD | |
| rs782039814 | 1145 | R>Q | No |
ExAC gnomAD |
|
|
COSM4816033 COSM1491081 COSM1491080 |
1146 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001837105 rs2074129057 |
1147 | L>I | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs782403040 | 1150 | A>G | No |
ExAC gnomAD |
|
| rs1556859506 | 1152 | K>N | No | gnomAD | |
| rs1047111446 | 1153 | R>Q | No | TOPMed | |
|
RCV001751964 rs2147010353 |
1153 | R>W | No |
ClinVar Ensembl dbSNP |
|
| rs1290080476 | 1155 | R>Q | No | TOPMed | |
| rs1556859496 | 1156 | R>C | No | gnomAD | |
| rs1556859492 | 1156 | R>H | No | gnomAD | |
|
RCV001593873 rs2147010117 |
1159 | V>M | No |
ClinVar Ensembl dbSNP |
|
|
rs2147010093 RCV002247904 |
1160 | G>R | No |
ClinVar Ensembl dbSNP |
|
| rs2074117358 | 1163 | D>E | No | TOPMed | |
| rs1556859484 | 1166 | I>V | No | gnomAD | |
|
rs2147009961 RCV001541932 |
1167 | E>* | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 1169 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1344363809 | 1175 | R>H | No |
1000Genomes TOPMed gnomAD |
|
|
rs2147006326 RCV001767029 |
1178 | Q>R | No |
ClinVar Ensembl dbSNP |
|
| rs1556859359 | 1180 | M>I | No | Ensembl | |
| rs2074108098 | 1180 | M>K | No | Ensembl | |
|
RCV000498854 CA413142507 rs1302692296 |
1183 | P>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs1556859338 | 1185 | P>L | No |
TOPMed gnomAD |
|
| rs1556859338 | 1185 | P>Q | No |
TOPMed gnomAD |
|
| rs1556859341 | 1185 | P>S | No | gnomAD | |
|
RCV000762641 rs1238193650 |
1187 | P>L | No |
ClinVar dbSNP gnomAD |
|
| TCGA novel | 1187 | P>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1556859309 | 1190 | E>K | No | gnomAD | |
| rs1556859309 | 1190 | E>Q | No | gnomAD | |
| rs1556859307 | 1191 | E>D | No | gnomAD | |
| rs1556859301 | 1192 | Y>D | No | gnomAD | |
| rs1556859301 | 1192 | Y>N | No | gnomAD | |
| rs1193003776 | 1198 | V>L | No |
TOPMed gnomAD |
|
| rs2074106469 | 1200 | N>H | No | Ensembl | |
| rs1602257948 | 1201 | S>P | No | Ensembl | |
| rs2074106308 | 1203 | S>F | No | Ensembl | |
|
CA209619 rs797045628 RCV000195053 |
1206 | G>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs781960768 | 1212 | K>R | No |
ExAC gnomAD |
|
| rs1556859281 | 1213 | R>Q | No | gnomAD | |
| rs1159727308 | 1213 | R>W | No | TOPMed | |
| rs1556859274 | 1214 | G>R | No |
TOPMed gnomAD |
|
| rs1556859274 | 1214 | G>S | No |
TOPMed gnomAD |
|
| rs1556859270 | 1220 | M>V | No | gnomAD | |
| rs1161354303 | 1223 | P>Q | No |
TOPMed gnomAD |
|
|
CA413141517 rs1556859257 RCV000627334 |
1227 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs868967352 | 1228 | A>P | No | TOPMed | |
| rs868967352 | 1228 | A>S | No | TOPMed | |
| rs2074104960 | 1229 | S>C | No | Ensembl | |
| rs2074104845 | 1230 | A>S | No | Ensembl | |
| rs782112810 | 1235 | A>T | No |
ExAC gnomAD |
|
| rs1309855422 | 1238 | T>M | No |
TOPMed gnomAD |
|
| rs1243485516 | 1239 | H>Y | No |
TOPMed gnomAD |
|
|
RCV001009168 rs1602257730 |
1240 | H>missing | No |
ClinVar dbSNP |
|
| rs1556859229 | 1242 | H>Q | No | gnomAD | |
| rs2074104026 | 1243 | H>Q | No | Ensembl | |
|
RCV001837114 rs1050525102 |
1243 | H>Y | No |
ClinVar dbSNP gnomAD |
|
| rs2074103424 | 1247 | H>Y | No | Ensembl | |
| rs1556859206 | 1248 | G>D | No | gnomAD | |
| rs1556859193 | 1256 | V>M | No | gnomAD | |
| rs2074102704 | 1259 | D>G | No |
TOPMed gnomAD |
|
| rs1179860207 | 1259 | D>N | No |
TOPMed gnomAD |
|
| rs1556859184 | 1260 | G>R | No | gnomAD | |
| rs2074102555 | 1262 | S>P | No |
TOPMed gnomAD |
|
| rs2074102478 | 1263 | K>R | No | TOPMed | |
| rs1443261803 | 1264 | L>F | No | TOPMed | |
|
RCV000479533 CA16621440 rs1064795806 |
1265 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2074102094 | 1275 | P>L | No |
TOPMed gnomAD |
|
| rs1556859169 | 1278 | A>D | No | gnomAD | |
| rs1602257444 | 1282 | Y>H | No | Ensembl | |
| rs1602257434 | 1282 | Y>S | No | gnomAD | |
| rs1464648181 | 1283 | L>F | No |
TOPMed gnomAD |
|
| rs1602257416 | 1283 | L>P | No | Ensembl | |
|
rs1569291654 RCV000760542 |
1286 | Q>* | No |
ClinVar Ensembl dbSNP |
|
| rs1379037693 | 1286 | Q>P | No | Ensembl | |
| rs1602257375 | 1289 | S>P | No | Ensembl | |
| TCGA novel | 1291 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074100669 | 1292 | P>S | No | Ensembl | |
| rs1230290080 | 1295 | Q>P | No | Ensembl | |
|
rs1064795460 CA16621439 RCV000479004 |
1296 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2074100278 | 1297 | P>S | No | Ensembl | |
| rs2074100029 | 1299 | P>H | No | TOPMed | |
| rs2074099906 | 1302 | Q>H | No | Ensembl | |
| rs1851110805 | 1302 | Q>P | No | Ensembl | |
| rs1556859132 | 1305 | S>F | No | gnomAD | |
| rs2074099750 | 1306 | I>S | No | Ensembl | |
| rs1602257282 | 1307 | P>Q | No | Ensembl | |
| rs1556859124 | 1311 | A>T | No |
TOPMed gnomAD |
|
| rs1238463760 | 1313 | A>V | No |
TOPMed gnomAD |
|
| rs1556859116 | 1314 | P>L | No | gnomAD | |
| rs1183309229 | 1318 | P>S | No |
TOPMed gnomAD |
|
| rs1556859109 | 1319 | H>R | No | gnomAD | |
| TCGA novel | 1327 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2074098473 | 1329 | P>G | No | Ensembl | |
| rs2074098365 | 1329 | P>L | No | Ensembl | |
| rs2074098410 | 1329 | P>S | No | Ensembl | |
| rs1556859094 | 1334 | Y>C | No | gnomAD | |
|
RCV001773948 rs2147002472 |
1334 | Y>H | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 1338 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782657106 | 1338 | R>Q | No | ExAC | |
| rs1556859091 | 1338 | R>W | No | gnomAD | |
|
rs1064793569 CA16621438 RCV000486666 |
1344 | R>missing | No |
ClinGen ClinVar dbSNP |
|
| rs1359566569 | 1345 | R>P | No |
TOPMed gnomAD |
|
| rs78444703 | 1347 | A>D | No |
ExAC gnomAD |
|
| rs78444703 | 1347 | A>G | No |
ExAC gnomAD |
|
|
rs2074097651 RCV001577327 |
1347 | A>T | No |
ClinVar TOPMed dbSNP |
|
| rs2074097454 | 1351 | P>L | No |
TOPMed gnomAD |
|
| rs76123611 | 1353 | F>S | No | Ensembl | |
| rs1556859082 | 1354 | A>T | No | gnomAD | |
| rs1340127753 | 1355 | P>S | No |
TOPMed gnomAD |
|
| rs1602257002 | 1357 | G>A | No | Ensembl | |
| rs1602256974 | 1359 | H>P | No | Ensembl | |
| rs2074096922 | 1360 | P>T | No | TOPMed | |
| rs2147001952 | 1362 | H>P | No | Ensembl | |
| rs782586963 | 1362 | H>Q | No |
ExAC gnomAD |
|
| rs2074096753 | 1363 | Q>L | No | Ensembl | |
|
rs2147001902 RCV002275781 |
1365 | T>P | No |
ClinVar Ensembl dbSNP |
|
|
rs781846571 RCV000760820 |
1371 | Y>* | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1487774294 | 1376 | Q>P | No | Ensembl | |
| rs2074095772 | 1386 | K>N | No | TOPMed | |
| rs1479151906 | 1391 | S>G | No |
TOPMed gnomAD |
|
| rs1556859030 | 1394 | P>L | No | gnomAD | |
| rs1602256774 | 1399 | A>P | No | Ensembl | |
| rs782796942 | 1402 | A>V | No |
TOPMed gnomAD |
|
| rs1013759952 | 1405 | G>C | No | Ensembl | |
| rs2074094867 | 1405 | G>D | No | TOPMed | |
| rs2074094710 | 1407 | G>R | No | TOPMed | |
| rs1556859020 | 1409 | R>Q | No | gnomAD | |
| rs2080564758 | 1412 | G>E | No | TOPMed | |
| rs1556859018 | 1415 | Y>S | No | gnomAD | |
| rs1400894251 | 1417 | H>L | No | gnomAD | |
|
RCV001008283 rs1602256663 |
1419 | H>missing | No |
ClinVar dbSNP |
|
| rs868984500 | 1419 | H>P | No | gnomAD | |
| rs868962201 | 1420 | H>L | No | gnomAD | |
| rs868962201 | 1420 | H>P | No | gnomAD | |
| rs868962201 | 1420 | H>R | No | gnomAD | |
|
RCV001703294 rs2147000956 |
1422 | Q>missing | No |
ClinVar dbSNP |
|
| rs1602256631 | 1422 | Q>P | No | Ensembl | |
| rs1602256590 | 1428 | H>P | No | gnomAD | |
| rs1602256590 | 1428 | H>R | No | gnomAD | |
| rs1556859004 | 1431 | I>L | No | gnomAD | |
| rs1602256546 | 1431 | I>T | No | Ensembl | |
|
rs1064795324 CA16621436 RCV000485686 |
1434 | H>missing | No |
ClinGen ClinVar dbSNP |
|
| rs868988470 | 1434 | H>P | No | gnomAD | |
| rs868988470 | 1434 | H>R | No | gnomAD | |
| rs868932744 | 1436 | S>P | No | Ensembl | |
| rs1602256501 | 1437 | Y>S | No | gnomAD | |
| rs868977470 | 1440 | L>P | No | Ensembl | |
| rs2074092360 | 1440 | L>V | No | Ensembl | |
| rs1602256462 | 1441 | P>A | No | Ensembl | |
| rs1602256453 | 1442 | P>A | No | Ensembl | |
| TCGA novel | 1442 | P>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1556858984 | 1443 | P>S | No | gnomAD | |
| rs868965493 | 1444 | S>P | No | Ensembl | |
| rs1602256427 | 1444 | S>Y | No | Ensembl | |
| rs868990112 | 1446 | H>P | No | Ensembl | |
| rs868936352 | 1447 | T>P | No | Ensembl | |
| rs1246743924 | 1448 | P>L | No | Ensembl | |
| rs868960294 | 1449 | H>P | No | Ensembl | |
| rs868948360 | 1450 | S>P | No | gnomAD | |
| rs1602256343 | 1451 | P>T | No | Ensembl | |
| rs782381980 | 1452 | L>P | No | 1000Genomes | |
| rs2074090827 | 1454 | P>S | No | Ensembl | |
| rs782585446 | 1455 | T>P | No |
1000Genomes gnomAD |
|
| rs1556858956 | 1455 | T>S | No | gnomAD | |
| rs782352923 | 1456 | S>P | No |
1000Genomes gnomAD |
|
| rs1363964764 | 1457 | P>L | No | gnomAD | |
|
RCV001814659 rs2147000170 |
1458 | H>N | No |
ClinVar Ensembl dbSNP |
|
| rs1386366522 | 1458 | H>P | No | gnomAD | |
| rs1324313295 | 1460 | P>L | No | TOPMed | |
| rs781858960 | 1463 | A>T | No |
ExAC gnomAD |
|
| rs1556858943 | 1465 | G>R | No | gnomAD | |
| rs1556858943 | 1465 | G>W | No | gnomAD | |
| rs2074089902 | 1466 | P>S | No | TOPMed | |
| rs1556858938 | 1469 | T>A | No | gnomAD | |
| rs2074089734 | 1469 | T>R | No | Ensembl | |
| rs1556858930 | 1472 | P>L | No |
TOPMed gnomAD |
|
| rs1569290954 | 1474 | S>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1602256165 | 1474 | S>R | No | Ensembl | |
|
rs1569290954 COSM1468528 COSM1468527 |
1474 | S>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs1242748501 | 1475 | A>T | No | TOPMed | |
|
rs2146999756 RCV001574808 |
1477 | P>L | No |
ClinVar Ensembl dbSNP |
|
| rs1208821743 | 1483 | R>Q | No | TOPMed | |
| rs2074088928 | 1483 | R>W | No | Ensembl | |
|
CA413138024 rs1556858900 RCV000520635 |
1488 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs2146999591 RCV001767895 |
1489 | V>R | No |
ClinVar Ensembl dbSNP |
1 associated diseases with Q5JU85
[MIM: 309530]: Intellectual developmental disorder, X-linked 1 (XLID1)
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. . Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR10663 | GUANYL-NUCLEOTIDE EXCHANGE FACTOR |
| PANTHER Subfamily | PTHR10663:SF314 | IQ MOTIF AND SEC7 DOMAIN-CONTAINING PROTEIN 2 |
| PANTHER Protein Class |
guanyl-nucleotide exchange factor
G-protein modulator protein-binding activity modulator |
|
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| Schaffer collateral - CA1 synapse | A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| modulation of chemical synaptic transmission | Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission. |
| positive regulation of long-term synaptic depression | Any process that activates or increases the frequency, rate or extent of long term synaptic depression. |
| positive regulation of synaptic transmission, glutamatergic | Any process that activates, maintains or increases the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. |
| regulation of ARF protein signal transduction | Any process that modulates the frequency, rate or extent of ARF protein signal transduction. |
| regulation of neurotransmitter receptor localization to postsynaptic specialization membrane | Any process that modulates the frequency, rate or extent of neurotransmitter receptor localization to postsynaptic specialization membrane. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9Y6D5 | ARFGEF2 | Brefeldin A-inhibited guanine nucleotide-exchange protein 2 | Homo sapiens (Human) | PR |
| Q9Y6D6 | ARFGEF1 | Brefeldin A-inhibited guanine nucleotide-exchange protein 1 | Homo sapiens (Human) | PR |
| Q9UPP2 | IQSEC3 | IQ motif and SEC7 domain-containing protein 3 | Homo sapiens (Human) | SS |
| Q6DN90 | IQSEC1 | IQ motif and SEC7 domain-containing protein 1 | Homo sapiens (Human) | EV |
| Q99418 | CYTH2 | Cytohesin-2 | Homo sapiens (Human) | SS |
| Q9UIA0 | CYTH4 | Cytohesin-4 | Homo sapiens (Human) | SS |
| O43739 | CYTH3 | Cytohesin-3 | Homo sapiens (Human) | EV |
| Q15438 | CYTH1 | Cytohesin-1 | Homo sapiens (Human) | SS |
| Q92538 | GBF1 | Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 | Homo sapiens (Human) | PR |
| Q3TES0 | Iqsec3 | IQ motif and SEC7 domain-containing protein 3 | Mus musculus (Mouse) | SS |
| Q8R0S2 | Iqsec1 | IQ motif and SEC7 domain-containing protein 1 | Mus musculus (Mouse) | SS |
| Q5DU25 | Iqsec2 | IQ motif and SEC7 domain-containing protein 2 | Mus musculus (Mouse) | SS |
| Q76M68 | Iqsec3 | IQ motif and SEC7 domain-containing protein 3 | Rattus norvegicus (Rat) | SS |
| A0A0G2JUG7 | Iqsec1 | IQ motif and SEC7 domain-containing protein 1 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAGSGPPGG | PGSESPNRAV | EYLLELNNII | ESQQQLLETQ | RRRIEELEGQ | LDQLTQENRD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LREESQLHRG | ELHRDPHGAR | DSPGRESQYQ | NLRETQFHHR | ELRESQFHQA | ARDVGYPNRE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GAYQNREAVY | RDKERDASYP | LQDTTGYTAR | ERDVAQCHLH | HENPALGRER | GGREAGPAHP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GREKEAGYSA | AVGVGPRPPR | ERGQLSRGAS | RSSSPGAGGG | HSTSTSTSPA | TTLQRKSDGE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NSRTVSVEGD | APGSDLSTAV | DSPGSQPPYR | LSQLPPSSSH | MGGPPAGVGL | PWAQRARLQP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ASVALRKQEE | EEIKRSKALS | DSYELSTDLQ | DKKVEMLERK | YGGSFLSRRA | ARTIQTAFRQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YRMNKNFERL | RSSASESRMS | RRIILSNMRM | QFSFEEYEKA | QNPAYFEGKP | ASLDEGAMAG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ARSHRLERGL | PYGGSCGGGI | DGGGSSVTTS | GEFSNDITEL | EDSFSKQVKS | LAESIDEALN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CHPSGPMSEE | PGSAQLEKRE | SKEQQEDSSA | TSFSDLPLYL | DDTVPQQSPE | RLPSTEPPPQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GRPEFWAPAP | LPPVPPPVPS | GTREDGSREE | GTRRGPGCLE | CRDFRLRAAH | LPLLTIEPPS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DSSVDLSDRS | DRGSVHRQLV | YEADGCSPHG | TLKHKGPPGR | APIPHRHYPA | PEGPAPAPPG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PLPPAPNSGT | GPSGVAGGRR | LGKCEAAGEN | SDGGDNESLE | SSSNSNETIN | CSSGSSSRDS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LREPPATGLC | KQTYQRETRH | SWDSPAFNND | VVQRRHYRIG | LNLFNKKPEK | GIQYLIERGF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LSDTPVGVAH | FILERKGLSR | QMIGEFLGNR | QKQFNRDVLD | CVVDEMDFSS | MDLDDALRKF |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QSHIRVQGEA | QKVERLIEAF | SQRYCVCNPA | LVRQFRNPDT | IFILAFAIIL | LNTDMYSPSV |
| 910 | 920 | 930 | 940 | 950 | 960 |
| KAERKMKLDD | FIKNLRGVDN | GEDIPRDLLV | GIYQRIQGRE | LRTNDDHVSQ | VQAVERMIVG |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KKPVLSLPHR | RLVCCCQLYE | VPDPNRPQRL | GLHQREVFLF | NDLLVVTKIF | QKKKILVTYS |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| FRQSFPLVEM | HMQLFQNSYY | QFGIKLLSAV | PGGERKVLII | FNAPSLQDRL | RFTSDLRESI |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| AEVQEMEKYR | VESELEKQKG | MMRPNASQPG | GAKDSVNGTM | ARSSLEDTYG | AGDGLKRGAL |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| SSSLRDLSDA | GKRGRRNSVG | SLDSTIEGSV | ISSPRPHQRM | PPPPPPPPPE | EYKSQRPVSN |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| SSSFLGSLFG | SKRGKGPFQM | PPPPTGQASA | SSSSASSTHH | HHHHHHHGHS | HGGLGVLPDG |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| QSKLQALHAQ | YCQGPGPAPP | PYLPPQQPSL | PPPPQQPPPL | PQLGSIPPPP | ASAPPVGPHR |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| HFHAHGPVPG | PQHYTLGRPG | RAPRRGAGGH | PQFAPHGRHP | LHQPTSPLPL | YSPAPQHPPA |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| HKQGPKHFIF | SHHPQMMPAA | GAAGGPGSRP | PGGSYSHPHH | PQSPLSPHSP | IPPHPSYPPL |
| 1450 | 1460 | 1470 | 1480 | ||
| PPPSPHTPHS | PLPPTSPHGP | LHASGPPGTA | NPPSANPKAK | PSRISTVV |