ClinVar Miner

Variants with conflicting interpretations studied for RAI1-related disorder

Minimum review status of the submission for RAI1-related disorder: Collection method of the submission for RAI1-related disorder:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
136 264 0 80 161 0 2 228

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
RAI1-related disorder likely pathogenic uncertain significance likely benign benign
uncertain significance 2 0 57 74
likely benign 0 40 0 68
benign 0 3 12 0

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
not provided 0 270 0 77 150 0 2 218
not specified 0 45 0 11 21 0 0 32
History of neurodevelopmental disorder 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 228
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.264G>A (p.Gln88=) rs61999281 0.02170
NM_030665.4(RAI1):c.840_849del (p.Gln280fs) rs760854027 0.01119
NM_030665.4(RAI1):c.1326G>A (p.Val442=) rs148308622 0.00423
NM_030665.4(RAI1):c.610C>T (p.Pro204Ser) rs138332224 0.00257
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00233
NM_030665.4(RAI1):c.1656C>T (p.Ser552=) rs148309343 0.00147
NM_030665.4(RAI1):c.223G>T (p.Ala75Ser) rs566875015 0.00118
NM_030665.4(RAI1):c.972G>A (p.Pro324=) rs138675466 0.00103
NM_030665.4(RAI1):c.1524G>A (p.Thr508=) rs141826168 0.00097
NM_030665.4(RAI1):c.3357C>T (p.Ser1119=) rs139448147 0.00076
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln) rs141317462 0.00060
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg) rs147091667 0.00058
NM_030665.4(RAI1):c.1866C>T (p.Ala622=) rs143944475 0.00044
NM_030665.4(RAI1):c.2622A>G (p.Leu874=) rs140455907 0.00037
NM_030665.4(RAI1):c.516C>A (p.His172Gln) rs147481626 0.00035
NM_030665.4(RAI1):c.4652C>T (p.Ser1551Leu) rs202158738 0.00032
NM_030665.4(RAI1):c.5079G>A (p.Pro1693=) rs748845443 0.00032
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) rs143396390 0.00027
NM_030665.4(RAI1):c.2190G>C (p.Pro730=) rs141039036 0.00026
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_030665.4(RAI1):c.109G>A (p.Gly37Arg) rs201393598 0.00024
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg) rs200719553 0.00024
NM_030665.4(RAI1):c.5199G>A (p.Ser1733=) rs146112263 0.00024
NM_030665.4(RAI1):c.1134C>T (p.Ser378=) rs141719449 0.00023
NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu) rs201405375 0.00019
NM_030665.4(RAI1):c.5379C>T (p.Gly1793=) rs372539998 0.00017
NM_030665.4(RAI1):c.214G>A (p.Ala72Thr) rs370671656 0.00016
NM_030665.4(RAI1):c.1740G>A (p.Pro580=) rs138768616 0.00015
NM_030665.4(RAI1):c.2422G>A (p.Gly808Arg) rs746952369 0.00015
NM_030665.4(RAI1):c.2981G>A (p.Arg994Gln) rs201996411 0.00015
NM_030665.4(RAI1):c.2004C>T (p.Pro668=) rs398124414 0.00014
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957 0.00014
NM_030665.4(RAI1):c.5545A>G (p.Met1849Val) rs373921882 0.00014
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn) rs147844401 0.00014
NM_030665.4(RAI1):c.3678G>A (p.Ser1226=) rs144290584 0.00012
NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg) rs755572135 0.00012
NM_030665.4(RAI1):c.531G>A (p.Pro177=) rs148993070 0.00012
NM_030665.4(RAI1):c.1580G>A (p.Arg527His) rs377314203 0.00011
NM_030665.4(RAI1):c.5652C>T (p.Ser1884=) rs567884332 0.00011
NM_030665.4(RAI1):c.1266C>T (p.Leu422=) rs777325097 0.00009
NM_030665.4(RAI1):c.1925C>T (p.Ser642Leu) rs200061071 0.00009
NM_030665.4(RAI1):c.3880C>T (p.Pro1294Ser) rs149103415 0.00009
NM_030665.4(RAI1):c.3883C>T (p.Pro1295Ser) rs372337877 0.00009
NM_030665.4(RAI1):c.5366G>A (p.Arg1789Gln) rs368587743 0.00009
NM_030665.4(RAI1):c.1499C>T (p.Pro500Leu) rs775231187 0.00007
NM_030665.4(RAI1):c.3183G>A (p.Thr1061=) rs774189404 0.00007
NM_030665.4(RAI1):c.397C>T (p.Pro133Ser) rs183251531 0.00007
NM_030665.4(RAI1):c.4735T>C (p.Tyr1579His) rs762221377 0.00007
NM_030665.4(RAI1):c.1488G>A (p.Pro496=) rs727504116 0.00006
NM_030665.4(RAI1):c.1882G>A (p.Glu628Lys) rs371291565 0.00006
NM_030665.4(RAI1):c.2594T>C (p.Leu865Pro) rs138173790 0.00006
NM_030665.4(RAI1):c.284C>T (p.Pro95Leu) rs370882080 0.00006
NM_030665.4(RAI1):c.2951C>T (p.Ala984Val) rs371644042 0.00006
NM_030665.4(RAI1):c.3271G>A (p.Ala1091Thr) rs745814214 0.00006
NM_030665.4(RAI1):c.3689C>A (p.Ala1230Glu) rs374187267 0.00006
NM_030665.4(RAI1):c.3895G>A (p.Asp1299Asn) rs750911924 0.00006
NM_030665.4(RAI1):c.4346G>A (p.Arg1449Gln) rs571438309 0.00006
NM_030665.4(RAI1):c.4711G>A (p.Ala1571Thr) rs779651867 0.00006
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser) rs145732429 0.00006
NM_030665.4(RAI1):c.5717C>T (p.Pro1906Leu) rs754508586 0.00006
NM_030665.4(RAI1):c.131G>A (p.Arg44Gln) rs149701833 0.00005
NM_030665.4(RAI1):c.194C>T (p.Thr65Met) rs530411834 0.00005
NM_030665.4(RAI1):c.2225A>G (p.Asn742Ser) rs527512369 0.00005
NM_030665.4(RAI1):c.3030C>A (p.Ala1010=) rs542714936 0.00005
NM_030665.4(RAI1):c.3203C>T (p.Thr1068Met) rs771870330 0.00005
NM_030665.4(RAI1):c.4033G>T (p.Ala1345Ser) rs374370209 0.00005
NM_030665.4(RAI1):c.4637A>G (p.Lys1546Arg) rs565710446 0.00005
NM_030665.4(RAI1):c.4794C>T (p.Phe1598=) rs769601380 0.00005
NM_030665.4(RAI1):c.517G>A (p.Val173Ile) rs573327073 0.00005
NM_030665.4(RAI1):c.586G>A (p.Asp196Asn) rs775499267 0.00005
NM_030665.4(RAI1):c.757G>A (p.Ala253Thr) rs758931451 0.00005
NM_030665.4(RAI1):c.925G>A (p.Ala309Thr) rs542056789 0.00005
NM_030665.4(RAI1):c.101G>A (p.Ser34Asn) rs767047134 0.00004
NM_030665.4(RAI1):c.1729G>A (p.Gly577Ser) rs141458634 0.00004
NM_030665.4(RAI1):c.1867G>A (p.Asp623Asn) rs148619631 0.00004
NM_030665.4(RAI1):c.187G>A (p.Ala63Thr) rs758424396 0.00004
NM_030665.4(RAI1):c.1979G>A (p.Arg660Gln) rs377537260 0.00004
NM_030665.4(RAI1):c.2074G>A (p.Val692Met) rs398124415 0.00004
NM_030665.4(RAI1):c.2220C>T (p.Ser740=) rs149807469 0.00004
NM_030665.4(RAI1):c.2289C>T (p.Gly763=) rs373122014 0.00004
NM_030665.4(RAI1):c.295G>A (p.Gly99Ser) rs146679063 0.00004
NM_030665.4(RAI1):c.3407C>T (p.Thr1136Met) rs200422280 0.00004
NM_030665.4(RAI1):c.3479G>A (p.Arg1160Gln) rs764373875 0.00004
NM_030665.4(RAI1):c.3761A>G (p.Asn1254Ser) rs141204901 0.00004
NM_030665.4(RAI1):c.3884C>T (p.Pro1295Leu) rs376809177 0.00004
NM_030665.4(RAI1):c.3885G>T (p.Pro1295=) rs146259338 0.00004
NM_030665.4(RAI1):c.4251A>G (p.Lys1417=) rs556223883 0.00004
NM_030665.4(RAI1):c.4258T>C (p.Ser1420Pro) rs1446366935 0.00004
NM_030665.4(RAI1):c.4811G>A (p.Arg1604Gln) rs773995975 0.00004
NM_030665.4(RAI1):c.4936G>A (p.Gly1646Arg) rs143029873 0.00004
NM_030665.4(RAI1):c.5243C>T (p.Ala1748Val) rs199929703 0.00004
NM_030665.4(RAI1):c.5398G>A (p.Asp1800Asn) rs777865239 0.00004
NM_030665.4(RAI1):c.719C>T (p.Thr240Ile) rs142646842 0.00004
NM_030665.4(RAI1):c.1150G>A (p.Ala384Thr) rs377731841 0.00003
NM_030665.4(RAI1):c.1450G>A (p.Glu484Lys) rs566757282 0.00003
NM_030665.4(RAI1):c.195G>A (p.Thr65=) rs377342940 0.00003
NM_030665.4(RAI1):c.1960G>A (p.Ala654Thr) rs749791172 0.00003
NM_030665.4(RAI1):c.2290G>A (p.Glu764Lys) rs764807307 0.00003
NM_030665.4(RAI1):c.2544C>T (p.Ala848=) rs777023372 0.00003
NM_030665.4(RAI1):c.2820C>G (p.Ser940Arg) rs141725170 0.00003
NM_030665.4(RAI1):c.2947G>A (p.Glu983Lys) rs772512478 0.00003
NM_030665.4(RAI1):c.3219C>T (p.Gly1073=) rs766857973 0.00003
NM_030665.4(RAI1):c.3693G>A (p.Pro1231=) rs753643062 0.00003
NM_030665.4(RAI1):c.3751G>A (p.Ala1251Thr) rs768678609 0.00003
NM_030665.4(RAI1):c.386C>G (p.Pro129Arg) rs748915017 0.00003
NM_030665.4(RAI1):c.4119C>A (p.Gly1373=) rs202177323 0.00003
NM_030665.4(RAI1):c.4166A>G (p.Gln1389Arg) rs757354656 0.00003
NM_030665.4(RAI1):c.4355G>A (p.Arg1452Gln) rs368003493 0.00003
NM_030665.4(RAI1):c.4412C>T (p.Pro1471Leu) rs530301043 0.00003
NM_030665.4(RAI1):c.4625G>A (p.Arg1542Gln) rs184604492 0.00003
NM_030665.4(RAI1):c.4682G>A (p.Arg1561Gln) rs755678482 0.00003
NM_030665.4(RAI1):c.4817C>T (p.Ala1606Val) rs771535517 0.00003
NM_030665.4(RAI1):c.5006C>T (p.Thr1669Met) rs1004463803 0.00003
NM_030665.4(RAI1):c.5183C>T (p.Thr1728Ile) rs201220981 0.00003
NM_030665.4(RAI1):c.73T>A (p.Ser25Thr) rs891764320 0.00003
NM_030665.4(RAI1):c.817C>T (p.Arg273Cys) rs758637644 0.00003
NM_030665.4(RAI1):c.887G>A (p.Arg296Gln) rs201729595 0.00003
NM_030665.4(RAI1):c.1048G>A (p.Val350Met) rs746652874 0.00002
NM_030665.4(RAI1):c.1310C>G (p.Ala437Gly) rs767340319 0.00002
NM_030665.4(RAI1):c.1744G>A (p.Asp582Asn) rs781255993 0.00002
NM_030665.4(RAI1):c.2392C>T (p.Pro798Ser) rs148947371 0.00002
NM_030665.4(RAI1):c.2414C>T (p.Ser805Leu) rs368058215 0.00002
NM_030665.4(RAI1):c.2488G>A (p.Glu830Lys) rs754955930 0.00002
NM_030665.4(RAI1):c.2545G>A (p.Asp849Asn) rs866732668 0.00002
NM_030665.4(RAI1):c.2644G>A (p.Glu882Lys) rs757023203 0.00002
NM_030665.4(RAI1):c.304G>A (p.Val102Ile) rs762006898 0.00002
NM_030665.4(RAI1):c.3097C>G (p.Pro1033Ala) rs749315193 0.00002
NM_030665.4(RAI1):c.3515G>A (p.Arg1172His) rs527868421 0.00002
NM_030665.4(RAI1):c.3724C>T (p.Arg1242Trp) rs771329558 0.00002
NM_030665.4(RAI1):c.3725G>A (p.Arg1242Gln) rs370850432 0.00002
NM_030665.4(RAI1):c.3820T>C (p.Ser1274Pro) rs571691450 0.00002
NM_030665.4(RAI1):c.3842C>G (p.Pro1281Arg) rs766014989 0.00002
NM_030665.4(RAI1):c.4279G>A (p.Glu1427Lys) rs766363196 0.00002
NM_030665.4(RAI1):c.4859C>T (p.Ala1620Val) rs755954506 0.00002
NM_030665.4(RAI1):c.530C>T (p.Pro177Leu) rs753632651 0.00002
NM_030665.4(RAI1):c.5642C>T (p.Pro1881Leu) rs755875722 0.00002
NM_030665.4(RAI1):c.660C>T (p.Ser220=) rs756623054 0.00002
NM_030665.4(RAI1):c.1054C>T (p.Arg352Cys) rs907728820 0.00001
NM_030665.4(RAI1):c.1132A>G (p.Ser378Gly) rs1329394727 0.00001
NM_030665.4(RAI1):c.1202C>T (p.Thr401Met) rs200825036 0.00001
NM_030665.4(RAI1):c.1229A>C (p.Gln410Pro) rs199885507 0.00001
NM_030665.4(RAI1):c.12T>C (p.Phe4=) rs755209169 0.00001
NM_030665.4(RAI1):c.1345G>A (p.Val449Ile) rs755492073 0.00001
NM_030665.4(RAI1):c.1471G>A (p.Glu491Lys) rs527757515 0.00001
NM_030665.4(RAI1):c.1487C>T (p.Pro496Leu) rs200903510 0.00001
NM_030665.4(RAI1):c.1937A>C (p.His646Pro) rs757197196 0.00001
NM_030665.4(RAI1):c.199T>C (p.Ser67Pro) rs2143001498 0.00001
NM_030665.4(RAI1):c.2087C>T (p.Thr696Met) rs773215639 0.00001
NM_030665.4(RAI1):c.2221G>A (p.Ala741Thr) rs374962897 0.00001
NM_030665.4(RAI1):c.2304C>T (p.Gly768=) rs753155088 0.00001
NM_030665.4(RAI1):c.2329G>C (p.Asp777His) rs959911033 0.00001
NM_030665.4(RAI1):c.2692A>G (p.Ile898Val) rs200306885 0.00001
NM_030665.4(RAI1):c.2709G>C (p.Glu903Asp) rs752676204 0.00001
NM_030665.4(RAI1):c.2737G>A (p.Gly913Ser) rs770243642 0.00001
NM_030665.4(RAI1):c.3254G>A (p.Gly1085Glu) rs756454905 0.00001
NM_030665.4(RAI1):c.3401C>T (p.Pro1134Leu) rs2032247780 0.00001
NM_030665.4(RAI1):c.3685A>G (p.Met1229Val) rs771093192 0.00001
NM_030665.4(RAI1):c.3710G>A (p.Arg1237Gln) rs572291411 0.00001
NM_030665.4(RAI1):c.3941T>C (p.Met1314Thr) rs2032280481 0.00001
NM_030665.4(RAI1):c.4384C>G (p.Pro1462Ala) rs2032297501 0.00001
NM_030665.4(RAI1):c.4532C>T (p.Pro1511Leu) rs548056226 0.00001
NM_030665.4(RAI1):c.4547G>C (p.Cys1516Ser) rs761578297 0.00001
NM_030665.4(RAI1):c.469T>C (p.Tyr157His) rs1289033749 0.00001
NM_030665.4(RAI1):c.4816G>A (p.Ala1606Thr) rs575260371 0.00001
NM_030665.4(RAI1):c.4927G>C (p.Asp1643His) rs745508744 0.00001
NM_030665.4(RAI1):c.5141A>G (p.Lys1714Arg) rs369948107 0.00001
NM_030665.4(RAI1):c.5170C>T (p.Arg1724Trp) rs373198856 0.00001
NM_030665.4(RAI1):c.5432C>G (p.Ala1811Gly) rs1484029703 0.00001
NM_030665.4(RAI1):c.5500G>A (p.Gly1834Ser) rs769844428 0.00001
NM_030665.4(RAI1):c.5503G>A (p.Val1835Ile) rs373160337 0.00001
NM_030665.4(RAI1):c.5616A>G (p.Lys1872=) rs1204448546 0.00001
NM_030665.4(RAI1):c.5711G>A (p.Arg1904Lys) rs1197598241 0.00001
NM_030665.4(RAI1):c.688G>A (p.Gly230Arg) rs546550691 0.00001
NM_030665.4(RAI1):c.751C>G (p.Leu251Val) rs765999818 0.00001
NM_030665.4(RAI1):c.769C>G (p.Leu257Val) rs975446880 0.00001
NM_030665.4(RAI1):c.76C>T (p.Arg26Cys) rs376964045 0.00001
NM_030665.4(RAI1):c.986G>A (p.Arg329Gln) rs774552382 0.00001
NM_030665.4(RAI1):c.145G>T (p.Asp49Tyr) rs370209009
NM_030665.4(RAI1):c.1603G>A (p.Ala535Thr) rs754428934
NM_030665.4(RAI1):c.1606C>T (p.Arg536Cys) rs149164900
NM_030665.4(RAI1):c.1665C>G (p.Thr555=) rs769515020
NM_030665.4(RAI1):c.1775G>A (p.Arg592Gln) rs141808855
NM_030665.4(RAI1):c.1775G>C (p.Arg592Pro) rs141808855
NM_030665.4(RAI1):c.2003C>T (p.Pro668Leu) rs750407646
NM_030665.4(RAI1):c.2009C>T (p.Ser670Phe)
NM_030665.4(RAI1):c.2190G>A (p.Pro730=) rs141039036
NM_030665.4(RAI1):c.226_228del (p.Asp76del) rs763852650
NM_030665.4(RAI1):c.2404_2406del (p.Lys802del) rs779691871
NM_030665.4(RAI1):c.2506C>G (p.Arg836Gly) rs370508336
NM_030665.4(RAI1):c.2951C>A (p.Ala984Glu) rs371644042
NM_030665.4(RAI1):c.3270C>G (p.Ala1090=) rs398124416
NM_030665.4(RAI1):c.3346C>T (p.Pro1116Ser) rs950397097
NM_030665.4(RAI1):c.3425G>A (p.Arg1142His) rs2032249630
NM_030665.4(RAI1):c.3440G>A (p.Arg1147Gln) rs772898321
NM_030665.4(RAI1):c.3731GCA[3] (p.Ser1247_Ser1249del) rs760919336
NM_030665.4(RAI1):c.3731GCA[4] (p.Ser1248_Ser1249del) rs760919336
NM_030665.4(RAI1):c.3731GCA[5] (p.Ser1249del) rs760919336
NM_030665.4(RAI1):c.3731GCA[7] (p.Ser1249dup) rs760919336
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.383_388del (p.Pro128_Pro129del) rs757101407
NM_030665.4(RAI1):c.3885G>A (p.Pro1295=) rs146259338
NM_030665.4(RAI1):c.3920G>A (p.Arg1307Gln) rs369260099
NM_030665.4(RAI1):c.3920G>T (p.Arg1307Leu) rs369260099
NM_030665.4(RAI1):c.4129G>A (p.Gly1377Arg) rs767828696
NM_030665.4(RAI1):c.4313G>C (p.Gly1438Ala) rs781252626
NM_030665.4(RAI1):c.467A>G (p.Gln156Arg) rs977107435
NM_030665.4(RAI1):c.5171G>A (p.Arg1724Gln)
NM_030665.4(RAI1):c.5195C>A (p.Ala1732Asp)
NM_030665.4(RAI1):c.5321G>A (p.Arg1774Gln) rs892281911
NM_030665.4(RAI1):c.5443C>G (p.Pro1815Ala) rs1427880966
NM_030665.4(RAI1):c.5517C>A (p.Ala1839=) rs377747563
NM_030665.4(RAI1):c.5517C>T (p.Ala1839=) rs377747563
NM_030665.4(RAI1):c.5710-5dup rs1271191069
NM_030665.4(RAI1):c.77G>A (p.Arg26His) rs139160898
NM_030665.4(RAI1):c.834GCA[10] (p.Gln289_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[15] (p.Gln290_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[20] (p.Gln285_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[21] (p.Gln284_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[5] (p.Gln284_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[7] (p.Gln286_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_030665.4(RAI1):c.836_837insACA (p.Gln291dup) rs571229335
NM_030665.4(RAI1):c.836_837insACAGCA (p.Gln290_Gln291dup) rs587780428
NM_030665.4(RAI1):c.982G>A (p.Val328Ile) rs543870015

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