(used for variant description)
(last modified February 10, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001273.2 in the CHD4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering CHD4 transcript NM_001273.2.
(upstream sequence)
. . . . g.5044
attttccccccttcggccgcggcgaggaggagccggagcgggag c.-121
. . . . . | 02 . g.5952
tgacaccgagccggacccagcgcgacctgcggcggctccggg | tgactcgggccagtgtag c.-61
. . . . . . g.6012
aggtcctcaggccgccggcaggagcagctgggccaattccctggccgggagcggaagggg c.-1
. . . . . . g.6072
ATGGCGTCGGGCCTGGGCTCCCCGTCCCCCTGCTCGGCGGGCAGTGAGGAGGAGGATATG c.60
M A S G L G S P S P C S A G S E E E D M p.20
. . . . | 03 . . g.9908
GATGCACTTTTGAACAACAGCCTGCCCCCACCCCACCCAG | AAAATGAAGAGGACCCAGAA c.120
D A L L N N S L P P P H P E | N E E D P E p.40
. . . . . . g.9968
GAGGATTTGTCAGAAACAGAGACTCCAAAGCTCAAGAAGAAGAAAAAGCCTAAGAAACCT c.180
E D L S E T E T P K L K K K K K P K K P p.60
. . . . | 04 . . g.10228
CGGGACCCTAAAATCCCTAAGAGCAAGCGCCAAAAAAAGGAG | CGTATGCTCTTATGCCGG c.240
R D P K I P K S K R Q K K E | R M L L C R p.80
. . . . . . g.10288
CAGCTGGGGGACAGCTCTGGGGAGGGGCCAGAGTTTGTGGAGGAGGAGGAAGAGGTGGCT c.300
Q L G D S S G E G P E F V E E E E E V A p.100
. . . . . . g.10348
CTGCGCTCAGACAGTGAGGGCAGCGACTATACTCCTGGCAAGAAGAAGAAGAAGAAGCTT c.360
L R S D S E G S D Y T P G K K K K K K L p.120
. . . . . . g.10408
GGACCTAAGAAAGAGAAGAAGAGCAAATCCAAGCGGAAGGAGGAGGAGGAGGAGGAGGAT c.420
G P K K E K K S K S K R K E E E E E E D p.140
. | 05 . . . . g.10661
GATGATGATGATTCAAAG | GAGCCTAAATCATCTGCTCAGCTCCTGGAAGACTGGGGCATG c.480
D D D D S K | E P K S S A Q L L E D W G M p.160
. . . . . . g.10721
GAAGACATTGACCACGTGTTCTCAGAGGAGGATTATCGAACCCTCACCAACTACAAGGCC c.540
E D I D H V F S E E D Y R T L T N Y K A p.180
. | 06. . . . . g.10898
TTCAGCCAGTTTGTCAG | ACCCCTCATTGCTGCCAAAAATCCCAAGATTGCTGTCTCCAAG c.600
F S Q F V R | P L I A A K N P K I A V S K p.200
. . . . . . g.10958
ATGATGATGGTTTTGGGTGCAAAATGGCGGGAGTTCAGTACCAATAACCCCTTCAAAGGC c.660
M M M V L G A K W R E F S T N N P F K G p.220
. . . . . . g.11018
AGTTCTGGGGCATCAGTGGCAGCTGCGGCAGCAGCAGCGGTAGCTGTGGTGGAGAGCATG c.720
S S G A S V A A A A A A A V A V V E S M p.240
. . . . . . g.11078
GTGACAGCCACTGAGGTTGCACCACCACCTCCCCCTGTGGAGGTGCCTATCCGCAAGGCC c.780
V T A T E V A P P P P P V E V P I R K A p.260
. | 07 . . . . g.11373
AAGACCAAGGAGGGCAAAG | GTCCCAATGCTCGGAGGAAGCCCAAGGGCAGCCCTCGTGTA c.840
K T K E G K G | P N A R R K P K G S P R V p.280
. . . . . . g.11433
CCTGATGCCAAGAAGCCTAAACCCAAGAAAGTAGCTCCCCTGAAAATCAAGCTGGGAGGT c.900
P D A K K P K P K K V A P L K I K L G G p.300
. . | 08. . . . g.11749
TTTGGTTCCAAGCGTAAGAGATCCTCG | AGTGAGGATGATGACTTAGATGTGGAATCTGAC c.960
F G S K R K R S S | S E D D D L D V E S D p.320
. . . . . . g.11809
TTCGATGATGCCAGTATCAATAGCTATTCTGTTTCTGATGGTTCCACCAGCCGTAGTAGC c.1020
F D D A S I N S Y S V S D G S T S R S S p.340
. . . . | 09 . . g.12007
CGCAGCCGCAAGAAACTCCGAACCACTAAAAAGAAAAAGAAAG | GCGAGGAGGAGGTGACT c.1080
R S R K K L R T T K K K K K G | E E E V T p.360
. . . . . . g.12067
GCTGTGGATGGTTATGAGACAGACCACCAGGACTATTGCGAGGTGTGCCAGCAAGGCGGT c.1140
A V D G Y E T D H Q D Y C E V C Q Q G G p.380
. . . . . . g.12127
GAGATCATCCTGTGTGATACCTGTCCCCGTGCTTACCACATGGTCTGCCTGGATCCCGAC c.1200
E I I L C D T C P R A Y H M V C L D P D p.400
. . . . | 10 . . g.12391
ATGGAGAAGGCTCCCGAGGGCAAGTGGAGCTGCCCACACTGC | GAGAAGGAAGGCATCCAG c.1260
M E K A P E G K W S C P H C | E K E G I Q p.420
. . . . . . g.12451
TGGGAAGCTAAAGAGGACAATTCGGAGGGTGAGGAGATCCTGGAAGAGGTTGGGGGAGAC c.1320
W E A K E D N S E G E E I L E E V G G D p.440
. . . . . . g.12511
CTCGAAGAGGAGGATGACCACCATATGGAATTCTGTCGGGTCTGCAAGGATGGTGGGGAA c.1380
L E E E D D H H M E F C R V C K D G G E p.460
. . . . . . g.12571
CTGCTCTGCTGTGATACCTGTCCTTCTTCCTACCACATCCACTGCCTGAATCCCCCACTT c.1440
L L C C D T C P S S Y H I H C L N P P L p.480
. . . . | 11 . . g.13978
CCAGAGATCCCCAACGGTGAATGGCTCTGTCCCCGTTGTACG | TGTCCAGCTCTGAAGGGC c.1500
P E I P N G E W L C P R C T | C P A L K G p.500
. . . . . . g.14038
AAAGTGCAGAAGATCCTAATCTGGAAGTGGGGTCAGCCACCATCTCCCACACCAGTGCCT c.1560
K V Q K I L I W K W G Q P P S P T P V P p.520
. . . . . . g.14098
CGGCCTCCAGATGCTGATCCCAACACGCCCTCCCCAAAGCCCTTGGAGGGGCGGCCAGAG c.1620
R P P D A D P N T P S P K P L E G R P E p.540
. . . . . . g.14158
CGGCAGTTCTTTGTGAAATGGCAAGGCATGTCTTACTGGCACTGCTCCTGGGTTTCTGAA c.1680
R Q F F V K W Q G M S Y W H C S W V S E p.560
| 12 . . . . . . g.14340
CTGCAG | CTGGAGCTGCACTGTCAGGTGATGTTCCGAAACTATCAGCGGAAGAATGATATG c.1740
L Q | L E L H C Q V M F R N Y Q R K N D M p.580
. . . . . . g.14400
GATGAGCCACCTTCTGGGGACTTTGGTGGTGATGAAGAGAAAAGCCGAAAGCGAAAGAAC c.1800
D E P P S G D F G G D E E K S R K R K N p.600
. . . . . . g.14460
AAGGACCCTAAATTTGCAGAGATGGAGGAACGCTTCTATCGCTATGGGATAAAACCCGAG c.1860
K D P K F A E M E E R F Y R Y G I K P E p.620
. . . | 13 . . . g.16276
TGGATGATGATCCACCGAATCCTCAACCACAG | TGTGGACAAGAAGGGCCACGTCCACTAC c.1920
W M M I H R I L N H S | V D K K G H V H Y p.640
. . . . . . g.16336
TTGATCAAGTGGCGGGACTTACCTTACGATCAGGCTTCTTGGGAGAGTGAGGATGTGGAG c.1980
L I K W R D L P Y D Q A S W E S E D V E p.660
. . . . | 14 . . g.16971
ATCCAGGATTACGACCTGTTCAAGCAGAGCTATTGGAATCACAG | GGAGTTAATGAGGGGT c.2040
I Q D Y D L F K Q S Y W N H R | E L M R G p.680
. . . . . . g.17031
GAGGAAGGCCGACCAGGCAAGAAGCTCAAGAAGGTGAAGCTTCGGAAGTTGGAGAGGCCT c.2100
E E G R P G K K L K K V K L R K L E R P p.700
. . | 15 . . . . g.17774
CCAGAAACGCCAACAGTTGAT | CCAACAGTGAAGTATGAGCGACAGCCAGAGTACCTGGAT c.2160
P E T P T V D | P T V K Y E R Q P E Y L D p.720
. . . . . . g.17834
GCTACAGGTGGAACCCTGCACCCCTATCAAATGGAGGGCCTGAATTGGTTGCGCTTCTCC c.2220
A T G G T L H P Y Q M E G L N W L R F S p.740
. . . . . . g.17894
TGGGCTCAGGGCACTGACACCATCTTGGCTGATGAGATGGGCCTTGGGAAAACTGTACAG c.2280
W A Q G T D T I L A D E M G L G K T V Q p.760
. . . | 16 . . . g.18796
ACAGCAGTCTTCCTGTATTCCCTTTACAAGGAG | GGTCATTCCAAAGGCCCCTTCCTAGTG c.2340
T A V F L Y S L Y K E | G H S K G P F L V p.780
. . . . . . g.18856
AGCGCCCCTCTTTCTACCATCATCAACTGGGAGCGGGAGTTTGAAATGTGGGCTCCAGAC c.2400
S A P L S T I I N W E R E F E M W A P D p.800
. . . . . . g.18916
ATGTATGTCGTAACCTATGTGGGTGACAAGGACAGCCGTGCCATCATCCGAGAGAATGAG c.2460
M Y V V T Y V G D K D S R A I I R E N E p.820
. . . . . | 17 . g.19163
TTCTCCTTTGAAGACAATGCCATTCGTGGTGGCAAGAAGGCCTCCCGCATGAAG | AAAGAG c.2520
F S F E D N A I R G G K K A S R M K | K E p.840
. . . . . . g.19223
GCATCTGTGAAATTCCATGTGCTGCTGACATCCTATGAATTGATCACCATTGACATGGCT c.2580
A S V K F H V L L T S Y E L I T I D M A p.860
. . . . . . g.19283
ATTTTGGGCTCTATTGATTGGGCCTGCCTCATCGTGGATGAAGCCCATCGGCTGAAGAAC c.2640
I L G S I D W A C L I V D E A H R L K N p.880
. | 18 . . . . . g.19616
AATCAGTCTAAG | TTCTTCCGGGTATTGAATGGTTACTCACTCCAGCACAAGCTGTTGCTG c.2700
N Q S K | F F R V L N G Y S L Q H K L L L p.900
. . . . . . g.19676
ACTGGGACACCATTACAAAACAATCTGGAAGAGTTGTTTCATCTGCTCAACTTTCTCACC c.2760
T G T P L Q N N L E E L F H L L N F L T p.920
. | 19 . . . . . g.19865
CCCGAGAGGTTCCA | CAATTTGGAAGGTTTTTTGGAGGAGTTTGCTGACATTGCCAAGGAG c.2820
P E R F H | N L E G F L E E F A D I A K E p.940
. . . . . . g.19925
GACCAGATAAAAAAACTGCATGACATGCTGGGGCCGCACATGTTGCGGCGGCTCAAAGCC c.2880
D Q I K K L H D M L G P H M L R R L K A p.960
. . . . . . g.19985
GATGTGTTCAAGAACATGCCCTCCAAGACAGAACTAATTGTGCGTGTGGAGCTGAGCCCT c.2940
D V F K N M P S K T E L I V R V E L S P p.980
| 20 . . . . . g.20380
ATGCAGAA | GAAATACTACAAGTACATCCTCACTCGAAATTTTGAAGCACTCAATGCCCGA c.3000
M Q K | K Y Y K Y I L T R N F E A L N A R p.1000
. . . . . . g.20440
GGTGGTGGCAACCAGGTGTCTCTGCTGAATGTGGTGATGGATCTTAAGAAGTGCTGCAAC c.3060
G G G N Q V S L L N V V M D L K K C C N p.1020
. . . | 21 . . . g.20590
CATCCATACCTCTTCCCTGTGGCTGCAATG | GAAGCTCCTAAGATGCCTAATGGCATGTAT c.3120
H P Y L F P V A A M | E A P K M P N G M Y p.1040
. . . . . . g.20650
GATGGCAGTGCCCTAATCAGAGCATCTGGGAAATTATTGCTGCTGCAGAAAATGCTCAAG c.3180
D G S A L I R A S G K L L L L Q K M L K p.1060
. . . . | 22 . . g.20820
AACCTTAAGGAGGGTGGGCATCGTGTACTCATCTTTTCCCAG | ATGACCAAGATGCTAGAC c.3240
N L K E G G H R V L I F S Q | M T K M L D p.1080
. . . . . . g.20880
CTGCTAGAGGATTTCTTGGAACATGAAGGTTATAAATACGAACGCATCGATGGTGGAATC c.3300
L L E D F L E H E G Y K Y E R I D G G I p.1100
. . . . | 23 . . g.23983
ACTGGGAACATGCGGCAAGAGGCCATTGACCGCTTCAATG | CACCGGGTGCTCAGCAGTTC c.3360
T G N M R Q E A I D R F N A | P G A Q Q F p.1120
. . . . . . g.24043
TGCTTCTTGCTTTCCACTCGAGCTGGGGGCCTTGGAATCAATCTGGCCACTGCTGACACA c.3420
C F L L S T R A G G L G I N L A T A D T p.1140
. . . . | 24 . . g.24451
GTTATTATCTATGACTCTGACTGGAACCCCCATAATGACATTCAG | GCCTTTAGCAGAGCT c.3480
V I I Y D S D W N P H N D I Q | A F S R A p.1160
. . . . . . g.24511
CACCGGATTGGGCAAAATAAAAAGGTAATGATCTACCGGTTTGTGACCCGTGCGTCAGTG c.3540
H R I G Q N K K V M I Y R F V T R A S V p.1180
. . . . . . g.24571
GAGGAGCGCATCACGCAGGTGGCAAAGAAGAAAATGATGCTGACGCATCTAGTGGTGCGG c.3600
E E R I T Q V A K K K M M L T H L V V R p.1200
. . . . . . g.24631
CCTGGGCTGGGCTCCAAGACTGGATCTATGTCCAAACAGGAGCTTGATGATATCCTCAAA c.3660
P G L G S K T G S M S K Q E L D D I L K p.1220
. . . . | 25 . . g.24843
TTTGGCACTGAGGAACTATTCAAGGATGAAGCCACTGATGGAG | GAGGAGACAACAAAGAG c.3720
F G T E E L F K D E A T D G G | G D N K E p.1240
. . . . . . g.24903
GGAGAAGATAGCAGTGTTATCCACTACGATGATAAGGCCATTGAACGGCTGCTAGACCGT c.3780
G E D S S V I H Y D D K A I E R L L D R p.1260
. . . . . . g.24963
AACCAGGATGAGACTGAAGACACAGAATTGCAGGGCATGAATGAATATTTGAGCTCATTC c.3840
N Q D E T E D T E L Q G M N E Y L S S F p.1280
. . . | 26 . . g.29028
AAAGTGGCCCAGTATGTGGTACGGGAAGAAGAAATGGGG | GAGGAAGAGGAGGTAGAACGG c.3900
K V A Q Y V V R E E E M G | E E E E V E R p.1300
. . . . . . g.29088
GAAATCATTAAACAGGAAGAAAGTGTGGATCCTGACTACTGGGAGAAATTGCTGCGGCAC c.3960
E I I K Q E E S V D P D Y W E K L L R H p.1320
. . . . . . g.29148
CATTATGAGCAGCAGCAAGAAGATCTAGCCCGAAATCTGGGCAAAGGAAAAAGAATCCGT c.4020
H Y E Q Q Q E D L A R N L G K G K R I R p.1340
. . . . | 27 . . g.29292
AAACAGGTCAACTACAATGATGGCTCCCAGGAGGACCGAG | ATTGGCAGGACGACCAGTCC c.4080
K Q V N Y N D G S Q E D R D | W Q D D Q S p.1360
. . . . . . g.29352
GACAACCAGTCCGATTACTCAGTGGCTTCAGAGGAAGGTGATGAAGACTTTGATGAACGT c.4140
D N Q S D Y S V A S E E G D E D F D E R p.1380
| 28. . . . . . g.29502
TCAGAAG | CTCCCCGTAGGCCCAGTCGTAAGGGCCTGCGGAATGATAAAGATAAGCCATTG c.4200
S E A | P R R P S R K G L R N D K D K P L p.1400
. . . | 29 . . . g.29661
CCTCCTCTGTTGGCCCGTGTTGGTGGGAATATTGAA | GTACTTGGTTTTAATGCTCGTCAG c.4260
P P L L A R V G G N I E | V L G F N A R Q p.1420
. . . . . . g.29721
CGAAAAGCCTTTCTTAATGCAATTATGCGATATGGTATGCCACCTCAGGATGCTTTTACT c.4320
R K A F L N A I M R Y G M P P Q D A F T p.1440
. . . . . | 30 . g.30114
ACCCAGTGGCTTGTAAGAGACCTGCGAGGCAAATCAGAGAAAGAGTTCAA | GGCATATGTC c.4380
T Q W L V R D L R G K S E K E F K | A Y V p.1460
. . . . . . g.30174
TCTCTTTTCATGCGGCATTTATGTGAGCCGGGGGCAGATGGGGCTGAGACCTTTGCTGAT c.4440
S L F M R H L C E P G A D G A E T F A D p.1480
. . . . . . g.30234
GGTGTCCCCCGAGAAGGCCTGTCTCGCCAGCATGTCCTTACTAGAATTGGTGTTATGTCT c.4500
G V P R E G L S R Q H V L T R I G V M S p.1500
. | 31 . . . . . g.30616
TTGATTCGCAAGAAG | GTTCAGGAGTTTGAACATGTTAATGGGCGCTGGAGCATGCCTGAA c.4560
L I R K K | V Q E F E H V N G R W S M P E p.1520
. . . . . . g.30676
CTGGCTGAGGTGGAGGAAAACAAGAAGATGTCCCAGCCAGGGTCACCCTCCCCAAAAACT c.4620
L A E V E E N K K M S Q P G S P S P K T p.1540
. . . . . . g.30736
CCTACACCCTCCACTCCAGGGGACACGCAGCCCAACACTCCTGCACCTGTCCCACCTGCT c.4680
P T P S T P G D T Q P N T P A P V P P A p.1560
| 32 . . . . . . g.31056
G | AAGATGGGATAAAAATAGAGGAAAATAGCCTCAAAGAAGAAGAGAGCATAGAAGGAGAA c.4740
E | D G I K I E E N S L K E E E S I E G E p.1580
. . . | 33 . . g.31233
AAGGAGGTTAAATCTACAGCCCCTGAGACTGCCATTGAG | TGTACACAGGCCCCTGCCCCT c.4800
K E V K S T A P E T A I E | C T Q A P A P p.1600
. . . . . . g.31293
GCCTCAGAGGATGAAAAGGTCGTTGTTGAACCCCCTGAGGGAGAGGAGAAAGTGGAAAAG c.4860
A S E D E K V V V E P P E G E E K V E K p.1620
. . . . | 34 . g.33479
GCAGAGGTGAAGGAGAGAACAGAGGAACCTATGGAGACAGAGCCCAAAG | GTGCTGCTGAT c.4920
A E V K E R T E E P M E T E P K G | A A D p.1640
. . . . . . g.33539
GTAGAGAAGGTGGAGGAAAAGTCAGCAATAGATCTGACCCCTATTGTGGTAGAAGACAAA c.4980
V E K V E E K S A I D L T P I V V E D K p.1660
| 35 . . . . . . g.33898
G | AAGAGAAGAAAGAAGAAGAAGAGAAAAAAGAGGTGATGCTTCAGAATGGAGAGACCCCC c.5040
E | E K K E E E E K K E V M L Q N G E T P p.1680
. . . . . . g.33958
AAGGACCTGAATGATGAGAAACAGAAGAAAAATATTAAACAACGTTTCATGTTTAACATT c.5100
K D L N D E K Q K K N I K Q R F M F N I p.1700
. | 36 . . . . g.34289
GCAGATGGTGGTTTTACTG | AGTTGCACTCCCTTTGGCAGAATGAAGAGCGGGCAGCCACA c.5160
A D G G F T E | L H S L W Q N E E R A A T p.1720
. . . . . . g.34349
GTTACCAAGAAGACTTATGAGATCTGGCATCGACGGCATGACTACTGGCTGCTAGCCGGC c.5220
V T K K T Y E I W H R R H D Y W L L A G p.1740
| 37 . . . . . g.34520
ATTATAAA | CCATGGCTATGCCCGGTGGCAAGACATCCAGAATGACCCACGCTATGCCATC c.5280
I I N | H G Y A R W Q D I Q N D P R Y A I p.1760
. . . . . . g.34580
CTCAATGAGCCTTTCAAGGGTGAAATGAACCGTGGCAATTTCTTAGAGATCAAGAATAAA c.5340
L N E P F K G E M N R G N F L E I K N K p.1780
. . | 38 . . . . g.39155
TTTCTAGCTCGAAGGTTTAAG | CTCTTAGAACAAGCTCTGGTGATTGAGGAACAGCTGCGC c.5400
F L A R R F K | L L E Q A L V I E E Q L R p.1800
. . . . . . g.39215
CGGGCTGCTTACTTGAACATGTCAGAAGACCCTTCTCACCCTTCCATGGCCCTCAACACC c.5460
R A A Y L N M S E D P S H P S M A L N T p.1820
. . . . . . g.39275
CGCTTTGCTGAGGTGGAGTGTTTGGCGGAAAGTCATCAGCACCTGTCCAAGGAGTCAATG c.5520
R F A E V E C L A E S H Q H L S K E S M p.1840
. . . | 39. . . g.41376
GCAGGAAACAAGCCAGCCAATGCAGTCCTGCACAAAG | TTCTGAAACAGCTGGAAGAACTG c.5580
A G N K P A N A V L H K V | L K Q L E E L p.1860
. . . . . . g.41436
CTGAGTGACATGAAAGCTGATGTGACTCGACTCCCAGCTACCATTGCCCGAATTCCCCCA c.5640
L S D M K A D V T R L P A T I A R I P P p.1880
. . . . . . g.41496
GTTGCTGTGAGGTTACAGATGTCAGAGCGTAACATTCTCAGCCGCCTGGCAAACCGGGCA c.5700
V A V R L Q M S E R N I L S R L A N R A p.1900
. . | 40 . g.41731
CCCGAACCTACCCCACAGCAG | GTAGCCCAGCAGCAGTGA c.5739
P E P T P Q Q | V A Q Q Q X p.1912
. . . . . . g.41791
agatgcagactgataccacctccaccgctgagcagtgaccttcctcactttctcttgtcc c.*60
. . . . . . g.41851
cagcttctcccctgggggcctgagagaccctcaccttccttctgcccatcttccatgttg c.*120
. . . . . . g.41911
taaaggaacagccccagtgcactgggggaggggagggagtgaggggcagtggtgcccttc c.*180
. . . . . . g.41971
ctgcagaagagacatgcagcagtagcgctggcgccatctgcaggagctggcgggctggcc c.*240
. . . . . . g.42031
ttctggaccctggcttctccccactgtaacgcctgttacacacaaactgttgtgggttcc c.*300
. . . . . . g.42091
tgccaggcttgaagaaaatgatctgaattttttcctccttttggttttattttgttggtt c.*360
. . . . . . g.42151
tattttgtgttttcttttctcctttttggggggtattcagagtgggctgggcccctgggc c.*420
. . . . . . g.42211
gagacacagctacctctgttggcatctttttaataccaggaacccagcggctctagccac c.*480
. . . . . . g.42271
tgagcggctaaatgaaataaagtggaaaaaaaaaaaaaggaaaaaaccaaaagcataaaa c.*540
. . . . . g.42325
aaccacagcaaatttcttgatgaaaattgaaaataaaagtttccttgtatttta c.*594
(downstream sequence)
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