Full data view for gene SH3PXD2B

Information The variants shown are described using the NM_001017995.2 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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Effect     

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AscendingDNA change (cDNA)     

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Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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Age at death     

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Owner     
+/. - c.75+1G>A r.spl? p.? Unknown - pathogenic g.171881281C>T g.172454277C>T - - SH3PXD2B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.80A>C r.(?) p.(Tyr27Ser) Unknown - likely benign g.171849496T>G g.172422492T>G SH3PXD2B(NM_001017995.2):c.80A>C (p.(Tyr27Ser)) - SH3PXD2B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.85A>G r.(?) p.(Ile29Val) Unknown - VUS g.171849491T>C - SH3PXD2B(NM_001017995.2):c.85A>G (p.(Ile29Val)) - SH3PXD2B_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.89G>A r.(?) p.(Arg30Gln) Unknown - likely benign g.171849487C>T g.172422483C>T SH3PXD2B(NM_001017995.2):c.89G>A (p.(Arg30Gln)) - SH3PXD2B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.105C>T r.(?) p.(Ser35=) Unknown - benign g.171849471G>A g.172422467G>A - - SH3PXD2B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.115G>T r.(?) p.(Glu39Ter) Unknown - pathogenic g.171849461C>A g.172422457C>A - - SH3PXD2B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.222C>A r.(?) p.(Pro74=) Unknown - likely benign g.171833291G>T g.172406287G>T SH3PXD2B(NM_001017995.2):c.222C>A (p.P74=) - SH3PXD2B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.232+4G>A r.spl? p.? Unknown - likely benign g.171833277C>T g.172406273C>T SH3PXD2B(NM_001017995.2):c.232+4G>A (p.?) - SH3PXD2B_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.280C>G r.(?) p.(Arg94Gly) Both (homozygous) - likely pathogenic (recessive) g.171821596G>C g.172394592G>C NM_001017995.2:c.280C>G:p.(Arg94Gly) - SH3PXD2B_000049 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 15DG0603 PubMed: Maddirevula 2018 family M yes - Arab - - - - 1 LOVD
-?/. - c.339T>C r.(?) p.(Ser113=) Unknown - likely benign g.171809102A>G g.172382098A>G SH3PXD2B(NM_001017995.2):c.339T>C (p.S113=) - SH3PXD2B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.395C>A r.(?) p.(Pro132His) Unknown - VUS g.171809046G>T - SH3PXD2B(NM_001017995.3):c.395C>A (p.(Pro132His)) - SH3PXD2B_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.400G>T r.(?) p.(Glu134Ter) Unknown - pathogenic g.171809041C>A g.172382037C>A - - SH3PXD2B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.410T>C r.(?) p.(Ile137Thr) Unknown - VUS g.171800811A>G g.172373807A>G SH3PXD2B(NM_001017995.2):c.410T>C (p.I137T, p.(Ile137Thr)) - SH3PXD2B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.410T>C r.(?) p.(Ile137Thr) Unknown - likely benign g.171800811A>G - SH3PXD2B(NM_001017995.2):c.410T>C (p.I137T, p.(Ile137Thr)) - SH3PXD2B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.430G>T r.(?) p.(Gly144Cys) Unknown - VUS g.171789871C>A g.172362867C>A SH3PXD2B(NM_001017995.2):c.430G>T (p.G144C) - SH3PXD2B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.522C>T r.(?) p.(Ser174=) Unknown - benign g.171789779G>A g.172362775G>A SH3PXD2B(NM_001017995.3):c.522C>T (p.(Ser174=)) - SH3PXD2B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.522C>T r.(?) p.(Ser174=) Unknown - likely benign g.171789779G>A - SH3PXD2B(NM_001017995.3):c.522C>T (p.(Ser174=)) - SH3PXD2B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.563-11T>C r.(=) p.(=) Unknown - benign g.171785892A>G g.172358888A>G - - SH3PXD2B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.611C>T r.(?) p.(Thr204Met) Unknown - VUS g.171785833G>A - SH3PXD2B(NM_001017995.2):c.611C>T (p.(Thr204Met)) - SH3PXD2B_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.667+4G>A r.spl? p.? Unknown - likely benign g.171785773C>T - SH3PXD2B(NM_001017995.2):c.667+4G>A - SH3PXD2B_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.814G>A r.(?) p.(Ala272Thr) Unknown - VUS g.171777565C>T g.172350561C>T SH3PXD2B(NM_001017995.2):c.814G>A (p.(Ala272Thr)), SH3PXD2B(NM_001017995.3):c.814G>A (p.A272T) - SH3PXD2B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.814G>A r.(?) p.(Ala272Thr) Unknown - VUS g.171777565C>T g.172350561C>T SH3PXD2B(NM_001017995.2):c.814G>A (p.(Ala272Thr)), SH3PXD2B(NM_001017995.3):c.814G>A (p.A272T) - SH3PXD2B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.884C>A r.(?) p.(Pro295Gln) Unknown - benign g.171777495G>T g.172350491G>T SH3PXD2B(NM_001017995.2):c.884C>A (p.(Pro295Gln)) - SH3PXD2B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.884C>A r.(?) p.(Pro295Gln) Unknown - likely benign g.171777495G>T g.172350491G>T SH3PXD2B(NM_001017995.2):c.884C>A (p.(Pro295Gln)) - SH3PXD2B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.969del r.(?) p.(Arg324Glyfs*19) Both (homozygous) - pathogenic (recessive) g.171777410del - - - SH3PXD2B_000046 - PubMed: White 2018 - - Germline - - - - - DNA SEQ - - FTHS, RRS BAB8759/BH9282_1 PubMed: White 2018 patient F yes - - - - - - 1 Johan den Dunnen
?/. - c.970C>T r.(?) p.(Arg324Trp) Unknown - VUS g.171777409G>A - SH3PXD2B(NM_001017995.2):c.970C>T (p.R324W, p.(Arg324Trp)) - SH3PXD2B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.970C>T r.(?) p.(Arg324Trp) Unknown - likely benign g.171777409G>A - SH3PXD2B(NM_001017995.2):c.970C>T (p.R324W, p.(Arg324Trp)) - SH3PXD2B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.986C>T r.(?) p.(Pro329Leu) Unknown - benign g.171777393G>A g.172350389G>A SH3PXD2B(NM_001017995.2):c.986C>T (p.(Pro329Leu)) - SH3PXD2B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.986C>T r.(?) p.(Pro329Leu) Unknown - likely benign g.171777393G>A g.172350389G>A SH3PXD2B(NM_001017995.2):c.986C>T (p.(Pro329Leu)) - SH3PXD2B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.994G>A r.(?) p.(Asp332Asn) Unknown - likely benign g.171777385C>T g.172350381C>T SH3PXD2B(NM_001017995.2):c.994G>A (p.(Asp332Asn)) - SH3PXD2B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.997G>A r.(?) p.(Gly333Ser) Unknown - likely benign g.171777382C>T - SH3PXD2B(NM_001017995.2):c.997G>A (p.G333S) - SH3PXD2B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1050G>A r.(?) p.(Arg350=) Unknown - likely benign g.171774299C>T - SH3PXD2B(NM_001017995.2):c.1050G>A (p.R350=) - SH3PXD2B_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1063-7G>T r.(=) p.(=) Unknown - likely benign g.171773272C>A g.172346268C>A SH3PXD2B(NM_001017995.2):c.1063-7G>T (p.(=)) - SH3PXD2B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1063-7G>T r.(=) p.(=) Unknown - likely benign g.171773272C>A g.172346268C>A SH3PXD2B(NM_001017995.2):c.1063-7G>T (p.(=)) - SH3PXD2B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1088C>T r.(?) p.(Pro363Leu) Unknown - VUS g.171773240G>A - SH3PXD2B(NM_001017995.3):c.1088C>T (p.(Pro363Leu)) - SH3PXD2B_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1283C>T r.(?) p.(Thr428Met) Unknown - VUS g.171766826G>A g.172339822G>A SH3PXD2B(NM_001017995.2):c.1283C>T (p.(Thr428Met)) - SH3PXD2B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1284G>C r.(?) p.(=) Unknown - likely benign g.171766825C>G - SH3PXD2B(NM_001017995.3):c.1284G>C (p.(Thr428=)) - SH3PXD2B_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - VUS g.171766706C>T - SH3PXD2B(NM_001017995.2):c.1403G>A (p.R468Q) - SH3PXD2B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1405C>T r.(?) p.(Pro469Ser) Unknown - VUS g.171766704G>A - SH3PXD2B(NM_001017995.2):c.1405C>T (p.P469S) - SH3PXD2B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1504A>G r.(?) p.(Met502Val) Unknown - VUS g.171766605T>C g.172339601T>C SH3PXD2B(NM_001017995.2):c.1504A>G (p.(Met502Val)) - SH3PXD2B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1543G>A r.(?) p.(Asp515Asn) Unknown - likely benign g.171766566C>T g.172339562C>T SH3PXD2B(NM_001017995.2):c.1543G>A (p.(Asp515Asn)) - SH3PXD2B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1546A>G r.(?) p.(Met516Val) Unknown - likely benign g.171766563T>C - SH3PXD2B(NM_001017995.2):c.1546A>G (p.(Met516Val)) - SH3PXD2B_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1602G>A r.(?) p.(Gly534=) Unknown - likely benign g.171766507C>T g.172339503C>T SH3PXD2B(NM_001017995.2):c.1602G>A (p.G534=) - SH3PXD2B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1624_1629del r.(?) p.(Glu542_Arg543del) Unknown - likely benign g.171766493_171766498del g.172339489_172339494del SH3PXD2B(NM_001017995.2):c.1624_1629del (p.(Glu542_Arg543del)) - SH3PXD2B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1705A>T r.(?) p.(Ile569Phe) Unknown - VUS g.171766404T>A g.172339400T>A SH3PXD2B(NM_001017995.2):c.1705A>T (p.(Ile569Phe)) - SH3PXD2B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1712C>T r.(?) p.(Pro571Leu) Unknown - likely benign g.171766397G>A - SH3PXD2B(NM_001017995.2):c.1712C>T (p.(Pro571Leu)) - SH3PXD2B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1837C>T r.(?) p.(Arg613Trp) Unknown - VUS g.171766272G>A g.172339268G>A SH3PXD2B(NM_001017995.3):c.1837C>T (p.R613W) - SH3PXD2B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1882G>T r.(?) p.(Asp628Tyr) Unknown - VUS g.171766227C>A g.172339223C>A SH3PXD2B(NM_001017995.3):c.1882G>T (p.D628Y) - SH3PXD2B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1984G>A r.(?) p.(Asp662Asn) Unknown - VUS g.171766125C>T - SH3PXD2B(NM_001017995.3):c.1984G>A (p.(Asp662Asn)) - SH3PXD2B_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1988T>C r.(?) p.(Ile663Thr) Unknown - VUS g.171766121A>G - SH3PXD2B(NM_001017995.3):c.1988T>C (p.(Ile663Thr)) - SH3PXD2B_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2027A>C r.(?) p.(Gln676Pro) Unknown - VUS g.171766082T>G g.172339078T>G SH3PXD2B(NM_001017995.2):c.2027A>C (p.(Gln676Pro)) - SH3PXD2B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2122C>T r.(?) p.(Arg708Cys) Unknown - VUS g.171765987G>A g.172338983G>A SH3PXD2B(NM_001017995.2):c.2122C>T (p.R708C) - SH3PXD2B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2128C>G r.(?) p.(Gln710Glu) Unknown - likely benign g.171765981G>C g.172338977G>C SH3PXD2B(NM_001017995.2):c.2128C>G (p.(Gln710Glu)) - SH3PXD2B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2227G>A r.(?) p.(Val743Met) Unknown - likely benign g.171765882C>T g.172338878C>T SH3PXD2B(NM_001017995.2):c.2227G>A (p.V743M, p.(Val743Met)) - SH3PXD2B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2227G>A r.(?) p.(Val743Met) Unknown - likely benign g.171765882C>T - SH3PXD2B(NM_001017995.2):c.2227G>A (p.V743M, p.(Val743Met)) - SH3PXD2B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2279G>A r.(?) p.(Arg760His) Unknown - VUS g.171765830C>T - SH3PXD2B(NM_001017995.2):c.2279G>A (p.(Arg760His)) - SH3PXD2B_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2386C>T r.(?) p.(Arg796Cys) Unknown - VUS g.171765723G>A g.172338719G>A SH3PXD2B(NM_001017995.2):c.2386C>T (p.(Arg796Cys)) - SH3PXD2B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2395_2397del r.(?) p.(Leu799del) Unknown - VUS g.171765715_171765717del g.172338711_172338713del SH3PXD2B(NM_001017995.2):c.2395_2397del (p.(Leu799del)), SH3PXD2B(NM_001017995.2):c.2395_2397delCTC (p.L799del) - SH3PXD2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2395_2397del r.(?) p.(Leu799del) Unknown - VUS g.171765715_171765717del g.172338711_172338713del SH3PXD2B(NM_001017995.2):c.2395_2397del (p.(Leu799del)), SH3PXD2B(NM_001017995.2):c.2395_2397delCTC (p.L799del) - SH3PXD2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2461A>G r.(?) p.(Lys821Glu) Unknown - VUS g.171765648T>C - SH3PXD2B(NM_001017995.3):c.2461A>G (p.(Lys821Glu)) - SH3PXD2B_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2577C>T r.(?) p.(Ala859=) Unknown - likely benign g.171765532G>A g.172338528G>A SH3PXD2B(NM_001017995.2):c.2577C>T (p.A859=) - SH3PXD2B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2664C>T r.(?) p.(Phe888=) Unknown - likely benign g.171765445G>A g.172338441G>A SH3PXD2B(NM_001017995.2):c.2664C>T (p.F888=) - SH3PXD2B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2680G>A r.(?) p.(Gly894Arg) Unknown - VUS g.171765429C>T - SH3PXD2B(NM_001017995.3):c.2680G>A (p.(Gly894Arg)) - SH3PXD2B_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2687C>T r.(?) p.(Pro896Leu) Unknown - VUS g.171765422G>A g.172338418G>A SH3PXD2B(NM_001017995.2):c.2687C>T (p.P896L) - SH3PXD2B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*12988G>A r.(=) p.(=) Unknown - VUS g.171752385C>T g.172325381C>T SH3PXD2B(NM_001308175.1):c.1189-1G>A - SH3PXD2B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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