(used for variant description)
(last modified June 29, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_015135.2 in the NUP205 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_051184.1, covering NUP205 transcript NM_015135.2.
(upstream sequence)
. . . g.5031
ggcagaagggctctgttagtgcgcctctaag c.-1
. . | 02 . . . g.18223
ATGGCGACGCCTTTGGCGGTAAATTCGG | CTGCTAGTCTATGGGGTCCTTACAAAGACATT c.60
M A T P L A V N S A | A S L W G P Y K D I p.20
. . . . . . g.18283
TGGCATAAAGTGGGAAATGCTCTTTGGAGAAGACAACCTGAAGCTGTTCACCTTCTTGAT c.120
W H K V G N A L W R R Q P E A V H L L D p.40
. . . . . | 03 . g.20749
AAGATTTTGAAGAAACACAAACCTGACTTCATCTCATTGTTCAAAAATCCG | CCAAAAAAT c.180
K I L K K H K P D F I S L F K N P | P K N p.60
. . . . . . g.20809
GTTCAACAGCATGAGAAGGTTCAGAAAGCCAGTACAGAGGGAGTCGCCATTCAGGGTCAA c.240
V Q Q H E K V Q K A S T E G V A I Q G Q p.80
. . . . . . g.20869
CAGGGAACTCGACTTCTTCCTGAACAGCTCATTAAAGAAGCCTTTATTCTCAGTGACCTT c.300
Q G T R L L P E Q L I K E A F I L S D L p.100
. . . . | 04 . . g.23373
TTTGATATTGGAGAATTGGCAGCTGTTGAGCTTCTTCTTGCTG | GAGAGCATCAACAGCCA c.360
F D I G E L A A V E L L L A G | E H Q Q P p.120
. . . . . . g.23433
CATTTTCCTGGCCTTACCAGAGGATTAGTAGCTGTTCTTCTGTACTGGGATGGAAAGCGA c.420
H F P G L T R G L V A V L L Y W D G K R p.140
. . . . . . g.23493
TGCATTGCGAATTCCTTGAAAGCCTTGATACAGTCTAGACGGGGAAAGACATGGACCCTA c.480
C I A N S L K A L I Q S R R G K T W T L p.160
| 05 . . . . . g.24107
GAACTCAG | TCCAGAGCTGGCTTCCATGACAACACGCTTTACAGATGAGCTGATGGAGCAA c.540
E L S | P E L A S M T T R F T D E L M E Q p.180
. . . . . . g.24167
GGATTGACTTATAAAGTTCTTACGCTGGTGTCACAGATTGATGTGAATAATGAGTTTGAG c.600
G L T Y K V L T L V S Q I D V N N E F E p.200
. . . . | 06 . g.24894
AAACTACAGCGAGAGAGAGGTTTGGGCAGTGAAAAACATCGCAAAGAG | GTTTCTGATCTC c.660
K L Q R E R G L G S E K H R K E | V S D L p.220
. . . . . . g.24954
ATTAAGGAGTGCAGGCAGTCTCTTGCAGAAAGCCTTTTTGCCTGGGCTTGCCAGTCACCT c.720
I K E C R Q S L A E S L F A W A C Q S P p.240
. . . . . . g.25014
TTAGGCAAAGAAGACACTCTCCTCCTCATTGGACATTTGGAAAGAGTGACAGTTGAGGCT c.780
L G K E D T L L L I G H L E R V T V E A p.260
. . . . . . g.25074
AATGGCTCACTGGATGCAGTGAATCTGGCTCTTCTTATGGCGCTTCTATACTGTTTTGAT c.840
N G S L D A V N L A L L M A L L Y C F D p.280
. . . | 07. . . g.25860
ATCAGTTTTATAGAGCAAAGCACAGAGGAACGAGATG | ATATGATTCATCAACTTCCACTG c.900
I S F I E Q S T E E R D D | M I H Q L P L p.300
. . . . . . g.25920
TTGACAGAAAAACAGTACATTGCAACAATTCACTCTCGTCTTCAGGACTCACAGCTTTGG c.960
L T E K Q Y I A T I H S R L Q D S Q L W p.320
. . . . . . g.25980
AAACTGCCTGGGCTCCAAGCCACTGTTAGACTTGCCTGGGCGCTGGCATTGAGGGGAATA c.1020
K L P G L Q A T V R L A W A L A L R G I p.340
. . | 08 . . . . g.31956
TCCCAGCTACCTGATGTGACAG | CTCTGGCAGAATTCACAGAGGCAGATGAAGCAATGGCA c.1080
S Q L P D V T A | L A E F T E A D E A M A p.360
. . . . . . g.32016
GAACTCGCAATTGCTGACAACGTTTTCCTGTTCCTCATGGAATCTGTAGTGGTATCAGAA c.1140
E L A I A D N V F L F L M E S V V V S E p.380
. . . . . . g.32076
TACTTTTATCAGGAAGAATTTTATATTCGCAGAGTCCATAATCTCATCACAGATTTCCTT c.1200
Y F Y Q E E F Y I R R V H N L I T D F L p.400
. | 09 . . . . g.34703
GCACTTATGCCAATGAAG | GTGAAACAGCTGAGGAATCGGGCAGATGAAGATGCTCGAATG c.1260
A L M P M K | V K Q L R N R A D E D A R M p.420
. . . . . . g.34763
ATTCACATGAGTATGCAGATGGGTAATGAACCCCCCATTTCACTTAGAAGGGACCTGGAA c.1320
I H M S M Q M G N E P P I S L R R D L E p.440
. | 10 . . . . . g.34986
CACTTAATGCTTTTG | ATTGGCGAGCTATATAAAAAGAACCCTTTTCATCTGGAGCTTGCT c.1380
H L M L L | I G E L Y K K N P F H L E L A p.460
. . . . . . g.35046
CTAGAATATTGGTGTCCCACAGAGCCTCTTCAGACTCCGACTATCATGGGCTCTTATCTA c.1440
L E Y W C P T E P L Q T P T I M G S Y L p.480
. . . | 11 . . . g.38563
GGGGTGGCTCATCAGCGGCCCCCTCAACGCCAG | GTTGTCTTGTCAAAGTTTGTTAGGCAA c.1500
G V A H Q R P P Q R Q | V V L S K F V R Q p.500
. . . . . . g.38623
ATGGGTGACCTGTTGCCTCCAACTATTTATATTCCTTATTTGAAGATGCTCCAGGGATTG c.1560
M G D L L P P T I Y I P Y L K M L Q G L p.520
. . . . . . g.38683
GCCAATGGGCCTCAGTGTGCCCACTACTGTTTCAGCCTGCTCAAAGTCAATGGTAGTAGT c.1620
A N G P Q C A H Y C F S L L K V N G S S p.540
| 12 . . . . . . g.40129
CATG | TTGAAAATATTCAGGGAGCAGGTGGCAGTCCTGTTTCCTGGGAACATTTCTTTCAC c.1680
H V | E N I Q G A G G S P V S W E H F F H p.560
. . . . . . g.40189
TCCTTGATGCTTTACCACGAACACCTTCGGAAGGATCTTCCAAGTGCAGATAGTGTCCAG c.1740
S L M L Y H E H L R K D L P S A D S V Q p.580
. . . . . . g.40249
TACCGTCACCTTCCTTCCCGTGGCATCACCCAGAAGGAGCAAGATGGATTGATTGCTTTT c.1800
Y R H L P S R G I T Q K E Q D G L I A F p.600
. . . | 13 . . . g.41663
TTGCAGCTCACGTCTACCATCATTACTTGG | AGTGAAAATGCTCGCTTGGCACTCTGTGAA c.1860
L Q L T S T I I T W | S E N A R L A L C E p.620
. . . . . . g.41723
CACCCTCAGTGGACCCCTGTTGTGGTGATTCTGGGACTCCTCCAATGCAGTATTCCCCCT c.1920
H P Q W T P V V V I L G L L Q C S I P P p.640
. . . . . . g.41783
GTCCTAAAAGCTGAGCTACTGAAGACACTCGCAGCTTTTGGAAAATCTCCTGAAATTGCT c.1980
V L K A E L L K T L A A F G K S P E I A p.660
. . . | 14 . . . g.44481
GCTTCCCTCTGGCAGTCATTGGAATACACTCAG | ATACTGCAGACCGTGAGGATTCCAAGC c.2040
A S L W Q S L E Y T Q | I L Q T V R I P S p.680
. . | 15 . . . . g.45120
CAAAGGCAAGCTATTGGTATTGAG | GTTGAACTAAATGAAATAGAATCCCGGTGTGAAGAA c.2100
Q R Q A I G I E | V E L N E I E S R C E E p.700
. . . . . . g.45180
TACCCATTGACTCGGGCCTTTTGCCAGCTTATTAGTACTCTGGTGGAGAGCTCATTTCCT c.2160
Y P L T R A F C Q L I S T L V E S S F P p.720
. . . . . . g.45240
TCTAATTTGGGTGCTGGACTGCGGCCCCCTGGCTTTGACCCTTATTTGCAGTTCCTTAGA c.2220
S N L G A G L R P P G F D P Y L Q F L R p.740
. . . . . | 16 . g.47962
GACTCTGTGTTTCTACGATTCCGTACAAGAGCTTACCGGAGAGCAGCTGAAAAG | TGGGAA c.2280
D S V F L R F R T R A Y R R A A E K | W E p.760
. . . . . . g.48022
GTTGCTGAGGTGGTTTTGGAGGTGTTTTATAAATTGCTCAGAGATTATGAGCCTCAGCTT c.2340
V A E V V L E V F Y K L L R D Y E P Q L p.780
. . . | 17 . . . g.48482
GAAGATTTTGTAGACCAGTTTGTGGAACTACAAG | GAGAAGAAATCATAGCCTATAAGCCA c.2400
E D F V D Q F V E L Q G | E E I I A Y K P p.800
. . . . . . g.48542
CCTGGATTTAGTCTGATGTATCATCTGCTGAATGAGTCACCAATGTTGGAGCTTGCTCTC c.2460
P G F S L M Y H L L N E S P M L E L A L p.820
. . . . . | 18 . g.49899
AGTTTACTGGAAGAAGGAGTTAAGCAGCTTGACACCTATGCCCCCTTTCCTG | GGAAAAAA c.2520
S L L E E G V K Q L D T Y A P F P G | K K p.840
. . . . . . g.49959
CACCTGGAGAAAGCAGTACAGCATTGCCTTGCACTTCTCAATCTTACTCTGCAAAAGGAA c.2580
H L E K A V Q H C L A L L N L T L Q K E p.860
. . . . . . g.50019
AATCTTTTTATGGACCTTCTAAGAGAGAGTCAACTGGCTCTAATAGTCTGTCCTTTAGAA c.2640
N L F M D L L R E S Q L A L I V C P L E p.880
. . . . . . g.50079
CAGCTTTTGCAGGGAATTAATCCCAGAACTAAGAAGGCAGATAATGTGGTAAACATTGCC c.2700
Q L L Q G I N P R T K K A D N V V N I A p.900
| 19 . . . . . . g.51484
AG | ATACCTATATCATGGCAATACTAATCCAGAATTGGCTTTTGAAAGTGCCAAGATCCTC c.2760
R | Y L Y H G N T N P E L A F E S A K I L p.920
. . . . . . g.51544
TGTTGTATCTCTTGCAACTCTAATATTCAGATAAAGTTGGTTGGAGATTTCACACATGAC c.2820
C C I S C N S N I Q I K L V G D F T H D p.940
| 20 . . . . . . g.53288
CAG | AGTATAAGTCAGAAACTAATGGCTGGATTTGTGGAGTGTTTGGATTGTGAAGATGCA c.2880
Q | S I S Q K L M A G F V E C L D C E D A p.960
. . | 21 . . . . g.53872
GAAGAATTTGTACGTCTGGAAGAGG | GATCAGAACTTGAAAAGAAATTAGTTGCAATTCGT c.2940
E E F V R L E E G | S E L E K K L V A I R p.980
. . . . . . g.53932
CATGAAACAAGAATCCACATCTTGAATCTTCTCATTACCTCTCTGGAATGCAATCCACCC c.3000
H E T R I H I L N L L I T S L E C N P P p.1000
. . . . . . g.53992
AATCTTGCTCTCTACCTGTTGGGCTTTGAATTGAAAAAACCTGTCAGTACTACAAACCTA c.3060
N L A L Y L L G F E L K K P V S T T N L p.1020
. | 22 . . . . . g.54383
CAAGATCCAG | GAGTGTTAGGTTGCCCTCGGACATGCCTTCACGCCATTCTAAACATCTTG c.3120
Q D P G | V L G C P R T C L H A I L N I L p.1040
. . . . . . g.54443
GAGAAAGGAACGGAAGGGAGAACAGGCCCAGTGGCGGTGCGAGAATCTCCTCAGCTGGCT c.3180
E K G T E G R T G P V A V R E S P Q L A p.1060
. | 23 . . . . . g.61290
GAGCTATGTTACCAG | GTCATATATCAGTTATGTGCATGCTCTGATACATCTGGTCCTACT c.3240
E L C Y Q | V I Y Q L C A C S D T S G P T p.1080
. . . . . . g.61350
ATGAGGTACTTGAGAACCAGCCAGGATTTCTTATTTTCCCAGTTGCAGTATCTACCATTT c.3300
M R Y L R T S Q D F L F S Q L Q Y L P F p.1100
. | 24 . . . . . g.63052
TCTAACAAAG | AATATGAAATATCTATGCTGAACCAGATGTCATGGCTTATGAAAACTGCC c.3360
S N K E | Y E I S M L N Q M S W L M K T A p.1120
. . . . . . g.63112
TCAATAGAGCTAAGGGTAACCTCTCTGAATCGTCAGCGGTCACATACCCAGAGGCTCCTA c.3420
S I E L R V T S L N R Q R S H T Q R L L p.1140
. . . . | 25 . . g.63761
CACCTCTTACTGGATGACATGCCAGTGAAACCATACTCAG | ATGGTGAAGGAGGAATAGAA c.3480
H L L L D D M P V K P Y S D | G E G G I E p.1160
. . . . . | 26 . g.64184
GATGAAAACAGGTCTGTTTCTGGGTTCCTTCACTTTGACACTGCTACAAAAG | TACGTCGA c.3540
D E N R S V S G F L H F D T A T K V | R R p.1180
. . . . . . g.64244
AAAATTCTAAATATTCTTGACTCGATTGACTTCAGTCAGGAGATCCCTGAGCCTTTGCAG c.3600
K I L N I L D S I D F S Q E I P E P L Q p.1200
. . . . . . g.64304
TTGGATTTTTTTGATCGGGCCCAGATTGAACAAGTTATTGCTAACTGTGAACACAAGAAT c.3660
L D F F D R A Q I E Q V I A N C E H K N p.1220
. . . | 27 . . . g.64718
TTACGGGGACAGACAGTCTGCAATGTCAAG | CTTCTTCATAGGGTTCTTGTAGCTGAAGTA c.3720
L R G Q T V C N V K | L L H R V L V A E V p.1240
. . . . . | 28 . g.65507
AATGCCCTTCAGGGTATGGCAGCCATAGGACAGAGACCTCTACTAATGGAG | GAAATCAGC c.3780
N A L Q G M A A I G Q R P L L M E | E I S p.1260
. . . . . . g.65567
ACTGTACTTCAGTATGTGGTAGGAAGAAATAAATTGCTGCAGTGTCTTCATGCAAAACGT c.3840
T V L Q Y V V G R N K L L Q C L H A K R p.1280
. . . . . . g.65627
CATGCTCTGGAGTCGTGGAGGCAACTAGTAGAAATTATACTGACAGCTTGTCCCCAGGAC c.3900
H A L E S W R Q L V E I I L T A C P Q D p.1300
. . . . . . g.65687
CTCATTCAGGCAGAGGATCGACAACTGATTATTCGTGATATTTTACAAGATGTGCATGAT c.3960
L I Q A E D R Q L I I R D I L Q D V H D p.1320
| 29 . . . . . . g.66566
AAG | ATACTGGATGATGAAGCTGCGCAAGAGTTAATGCCTGTGGTCGCCGGGGCAGTGTTC c.4020
K | I L D D E A A Q E L M P V V A G A V F p.1340
. . . . . . g.66626
ACACTGACTGCTCACCTAAGCCAGGCCGTCCTCACTGAACAGAAGCAAACATCAGTCTTG c.4080
T L T A H L S Q A V L T E Q K Q T S V L p.1360
. . . . . . g.66686
GGACCAGCAGAGGCCCATTACGCTTTTATGCTTGATAGTTGCTTCACCTCACCTCCTCCT c.4140
G P A E A H Y A F M L D S C F T S P P P p.1380
. . . . . . g.66746
GAAGAGAACCCATTAGTGGGTTTTGCTTCTATTGGAGATTCTTCACTTTACATCATATTG c.4200
E E N P L V G F A S I G D S S L Y I I L p.1400
. . . | 30 . . . g.66905
AAGAAACTGTTAGACTTCATTTTGAAGACAG | GTGGTGGATTCCAACGAGTGAGGACTCAC c.4260
K K L L D F I L K T G | G G F Q R V R T H p.1420
. . . . . . g.66965
TTGTATGGCTCTCTGCTTTATTACTTACAGATTGCCCAGAGACCTGATGAACCAGACACC c.4320
L Y G S L L Y Y L Q I A Q R P D E P D T p.1440
. | 31 . . . . . g.69913
TTAGAAGCAG | CCAAGAAAACCATGTGGGAAAGGCTGACAGCCCCTGAAGATGTATTTAGC c.4380
L E A A | K K T M W E R L T A P E D V F S p.1460
. . . . . . g.69973
AAATTACAGCGAGAAAACATAGCCATTATTGAAAGTTATGGCGCCGCCCTCATGGAAGTG c.4440
K L Q R E N I A I I E S Y G A A L M E V p.1480
. . . | 32 . . g.72271
GTCTGTCGAGATGCTTGTGATGGTCATGAGATTGGAAGG | ATGCTGGCCCTGGCTCTACTT c.4500
V C R D A C D G H E I G R | M L A L A L L p.1500
. . . . . . g.72331
GATAGAATTGTCTCCGTGGATAAACAGCAGCAGTGGCTTTTGTATCTTTCTAACAGTGGC c.4560
D R I V S V D K Q Q Q W L L Y L S N S G p.1520
. . . . . . g.72391
TACTTGAAGGTCCTCGTAGACAGCTTGGTAGAAGATGACCGTACTTTGCAGAGCTTACTC c.4620
Y L K V L V D S L V E D D R T L Q S L L p.1540
. . . . . | 33 . g.73335
ACCCCACAGCCTCCCCTTTTAAAAGCACTTTATACTTATGAATCTAAAATG | GCATTTCTC c.4680
T P Q P P L L K A L Y T Y E S K M | A F L p.1560
. . . . . . g.73395
ACAAGAGTGGCAAAGATACAGCAGGGTGCATTAGAGCTGCTAAGATCAGGGGTGATTGTG c.4740
T R V A K I Q Q G A L E L L R S G V I V p.1580
. . . . . | 34 . g.75066
AGACTAGCTCAATGCCAAGTCTATGACATGCGCCCAGAAACGGACCCGCAGAG | CATGTTT c.4800
R L A Q C Q V Y D M R P E T D P Q S | M F p.1600
. . . . . . g.75126
GGCATGAGAGACCCTCCAATGTTCATCCCTACCCCAGTGGATCGCTACCGCCAGATTCTC c.4860
G M R D P P M F I P T P V D R Y R Q I L p.1620
. . . . . . g.75186
CTCCCAGCTCTCCAGCTGTGCCAGGTCATCCTCACATCTAGTATGGCCCAGCACTTGCAG c.4920
L P A L Q L C Q V I L T S S M A Q H L Q p.1640
. | 35 . . . . . g.77478
GCAGCAGGGCAG | GTATTGCAGTTTCTTATTTCACATTCTGATACCATACAAGCAATTCTG c.4980
A A G Q | V L Q F L I S H S D T I Q A I L p.1660
. . . . . . g.77538
CGCTGTCAGGATGTTAGTGCTGGGTCTTTGCAGGAATTGGCTCTGCTGACAGGAATTATA c.5040
R C Q D V S A G S L Q E L A L L T G I I p.1680
. | 36 . . . . g.82708
AGTAAAGCAGCACTTCCTG | GAATATTAAGTGAACTTGACGTTGATGTAAATGAAGGGTCT c.5100
S K A A L P G | I L S E L D V D V N E G S p.1700
. . . | 37 . . . g.85041
CTAATGGAGCTACAGGGACATATTGGAAGATTCCAG | CGCCAGTGCTTAGGACTACTAAGT c.5160
L M E L Q G H I G R F Q | R Q C L G L L S p.1720
. . . . . . g.85101
CGCTTTGGTGGCTCTGACAGACTGCGTCAGTTTAAATTTCAAGACGATAATGTGGAGGGA c.5220
R F G G S D R L R Q F K F Q D D N V E G p.1740
. . . . | 38 . . g.85658
GATAAAGTAAGCAAGAAAGATGAGATTGAACTGGCTATGCAGCAG | ATTTGTGCCAATGTA c.5280
D K V S K K D E I E L A M Q Q | I C A N V p.1760
. . . . . . g.85718
ATGGAATATTGCCAGTCACTCATGTTACAGAGTTCCCCTACCTTCCAGCATGCTGTGTGT c.5340
M E Y C Q S L M L Q S S P T F Q H A V C p.1780
. . . . . | 39 . g.90286
CTCTTCACTCCTAGCCTTTCAGAAACAGTTAATAGAGATGGACCGCGGCAAG | ATACCCAA c.5400
L F T P S L S E T V N R D G P R Q D | T Q p.1800
. . . . . . g.90346
GCTCCAGTGGTTCCATACTGGCGCCTGCCTGGTTTAGGCATTATCATCTACCTGCTGAAA c.5460
A P V V P Y W R L P G L G I I I Y L L K p.1820
. . . . . . g.90406
CAGAGTGCTAATGATTTCTTCAGCTATTATGACAGTCATCGACAGAGTGTCAGCAAGCTA c.5520
Q S A N D F F S Y Y D S H R Q S V S K L p.1840
. . . | 40 . . g.92002
CAAAATGTAGAGCAGCTTCCCCCAGATGAGATAAAAGAG | TTGTGTCAGTCTGTGATGCCT c.5580
Q N V E Q L P P D E I K E | L C Q S V M P p.1860
. . . . . . g.92062
GCTGGTGTTGATAAAATCTCCACTGCTCAGAAATATGTTCTAGCAAGACGGCGCTTGGTG c.5640
A G V D K I S T A Q K Y V L A R R R L V p.1880
. . . . | 41 . . g.92571
AAGGTGATCAACAATCGAGCTAAACTGCTTTCCCTTTGTTCTT | TTATCATAGAGACCTGC c.5700
K V I N N R A K L L S L C S F | I I E T C p.1900
. . . . . . g.92631
CTATTTATTCTTTGGCGCCATCTGGAGTACTACTTGTTACATTGCATGCCCACGGATTCT c.5760
L F I L W R H L E Y Y L L H C M P T D S p.1920
. . . . . | 42 . g.93252
CAAGATTCCTTATTTGCCTCGAGAACCTTGTTTAAAAGCAGAAGACTGCAAG | ATTCCTTC c.5820
Q D S L F A S R T L F K S R R L Q D | S F p.1940
. . . . . . g.93312
GCCTCAGAAACCAATCTAGATTTTAGAAGTGGGCTGGCTATAGTGAGCCAACATGATTTA c.5880
A S E T N L D F R S G L A I V S Q H D L p.1960
| 43 . . . . . . g.95544
GACCAG | CTTCAGGCTGATGCAATCAACGCTTTTGGAGAATCACTACAAAAGAAACTTCTG c.5940
D Q | L Q A D A I N A F G E S L Q K K L L p.1980
. . . . . . g.95604
GACATTGAAGGATTATATTCAAAAGTTCGATCTCGATATAGTTTCATACAGGCTCTTGTC c.6000
D I E G L Y S K V R S R Y S F I Q A L V p.2000
. . . g.95643
AGACGTATCCGTGGCCTCTTGAGGATATCAAGGAACTGA c.6039
R R I R G L L R I S R N X p.2012
. . . . . . g.95703
gagcccgtgcttatgctcttctatgagagagatgaattggggagaattgtctccatttta c.*60
. . . . . . g.95763
tagattagtttctttctaaattatgaccaaaaatattttgctatttctttctttgtatat c.*120
. . . . . . g.95823
ggacatcttttctgtaaacttcttcccctagttccatcctcactagtaaaaaataaatac c.*180
. g.95840
tttttaaaaaaacaaaa c.*197
(downstream sequence)
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