(used for variant description)
(last modified May 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001999.3 in the FBN2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008750.1, covering FBN2 transcript NM_001999.3.
(upstream sequence)
. g.5019
ctttccaatatccgtcttc c.-421
. . . . . . g.5079
ggagcgcacgggaatccgccgagctctgcgtgcaggcccttttttcttttgaggttcaca c.-361
. . . . . . g.5139
ttttttgaaattttacgccagggcttttgtaatttcctcccccgcccgctgacggtcctg c.-301
. . . . . . g.5199
gagtcgctcggggctttaggccggttatgcaacgtgtaccgctcggggctgccggctgca c.-241
. . . . . . g.5259
cctccgccgcgcctcgccgctcactgcgctagacccggcgccccgcgtctcgcttcgcgg c.-181
. . . . . . g.5319
gcagtcagggggccggcgctctgtcgaggtctccagctagagcagggagcccgagcccga c.-121
. . . . . . g.5379
gggagtccccggagccgacgaagggcttattagaccctgactcttttctgaggcgcgcag c.-61
. . . . . . g.5439
attttgtctttgatcactccctctccgcgggtctacggccgcgcgctttcggcgccggcg c.-1
. . . . . . g.5499
ATGGGGAGAAGACGGAGGCTGTGTCTCCAGCTCTACTTCCTGTGGCTGGGCTGTGTGGTG c.60
M G R R R R L C L Q L Y F L W L G C V V p.20
. . . . . . g.5559
CTCTGGGCGCAGGGCACGGCCGGCCAGCCTCAGCCTCCTCCGCCCAAGCCGCCCCGGCCC c.120
L W A Q G T A G Q P Q P P P P K P P R P p.40
. . . . . . g.5619
CAGCCGCCGCCGCAACAGGTTCGGTCCGCTACAGCAGGCTCTGAAGGCGGGTTTCTAGCG c.180
Q P P P Q Q V R S A T A G S E G G F L A p.60
. . . . . . g.5679
CCCGAGTATCGCGAGGAGGGTGCCGCAGTGGCCAGCCGCGTCCGCCGGCGAGGACAGCAG c.240
P E Y R E E G A A V A S R V R R R G Q Q p.80
. | 02 . . . . . g.6604
GACGTGCTCCGAGG | GCCCAACGTGTGCGGCTCCAGATTCCACTCCTACTGCTGCCCTGGA c.300
D V L R G | P N V C G S R F H S Y C C P G p.100
. . . | 03. . . g.12372
TGGAAGACGCTCCCTGGAGGAAACCAGTGCATTGTCC | CGATTTGTAGAAATAGTTGTGGA c.360
W K T L P G G N Q C I V P | I C R N S C G p.120
. . . . . . g.12432
GATGGATTTTGTTCCCGTCCTAACATGTGTACTTGTTCCAGTGGGCAAATATCATCAACC c.420
D G F C S R P N M C T C S S G Q I S S T p.140
. | 04 . . . . . g.15119
TGTGGATCAAAATCAA | TTCAGCAGTGCAGTGTGAGATGCATGAATGGTGGGACCTGTGCA c.480
C G S K S I | Q Q C S V R C M N G G T C A p.160
. . . . . | 05 . g.23682
GATGACCACTGCCAGTGCCAGAAAGGATATATTGGAACTTATTGTGGACAAC | CTGTCTGT c.540
D D H C Q C Q K G Y I G T Y C G Q P | V C p.180
. . . . . . g.23742
GAAAATGGATGTCAGAATGGTGGACGTTGCATCGGACCCAACCGCTGTGCTTGTGTTTAT c.600
E N G C Q N G G R C I G P N R C A C V Y p.200
. . | 06 . . . g.78153
GGGTTCACTGGTCCACAGTGTGAAAGAG | ATTACAGGACAGGCCCGTGTTTCACTCAGGTC c.660
G F T G P Q C E R D | Y R T G P C F T Q V p.220
. . . . . . g.78213
AACAACCAGATGTGCCAAGGGCAGCTGACAGGCATTGTCTGCACGAAGACTCTGTGCTGT c.720
N N Q M C Q G Q L T G I V C T K T L C C p.240
. . . . . . g.78273
GCCACCATTGGACGGGCGTGGGGCCATCCCTGTGAGATGTGTCCAGCCCAGCCTCAGCCC c.780
A T I G R A W G H P C E M C P A Q P Q P p.260
. . . . | 07 . . g.96450
TGCCGACGGGGTTTCATCCCCAACATCCGCACTGGAGCTTGCCAAG | ATGTTGATGAATGC c.840
C R R G F I P N I R T G A C Q D | V D E C p.280
. . . . . . g.96510
CAGGCTATCCCAGGGATATGCCAAGGAGGAAACTGTATCAATACAGTGGGCTCTTTTGAA c.900
Q A I P G I C Q G G N C I N T V G S F E p.300
. . . . . | 08 . g.134251
TGCAGATGCCCTGCTGGTCACAAACAGAGTGAAACTACTCAGAAATGTGAAG | ACATTGAT c.960
C R C P A G H K Q S E T T Q K C E D | I D p.320
. . . . . . g.134311
GAGTGCAGCATCATTCCTGGGATATGTGAAACTGGTGAATGTTCCAACACCGTGGGAAGC c.1020
E C S I I P G I C E T G E C S N T V G S p.340
. . . . . | 09 g.147770
TATTTTTGTGTTTGTCCACGTGGATATGTAACCTCAACAGATGGCTCTCGATGCATCG | AT c.1080
Y F C V C P R G Y V T S T D G S R C I D | p.360
. . . . . . g.147830
CAGAGAACAGGCATGTGTTTCTCGGGCCTGGTGAATGGCCGCTGTGCACAAGAGCTCCCG c.1140
Q R T G M C F S G L V N G R C A Q E L P p.380
. . . . . . g.147890
GGGAGAATGACGAAAATGCAGTGCTGCTGTGAGCCTGGCCGCTGCTGGGGCATCGGAACC c.1200
G R M T K M Q C C C E P G R C W G I G T p.400
. . . | 10 . . . g.149703
ATTCCTGAAGCCTGTCCTGTCAGAGGTTCTG | AGGAATATCGCAGACTTTGCATGGATGGA c.1260
I P E A C P V R G S E | E Y R R L C M D G p.420
. . . . . . g.149763
CTTCCAATGGGAGGAATTCCAGGGAGTGCTGGTTCCAGACCTGGAGGCACTGGGGGAAAT c.1320
L P M G G I P G S A G S R P G G T G G N p.440
. . . . . . g.149823
GGCTTTGCCCCAAGTGGCAATGGCAATGGCTATGGCCCAGGAGGGACAGGCTTCATCCCC c.1380
G F A P S G N G N G Y G P G G T G F I P p.460
. . . . . . g.149883
ATCCCTGGAGGCAATGGCTTTTCTCCTGGCGTTGGGGGAGCCGGTGTGGGGGCCGGGGGA c.1440
I P G G N G F S P G V G G A G V G A G G p.480
. . | 11 . . . . g.150922
CAGGGACCTATCATCACTGGACTAA | CAATTCTGAACCAGACAATAGATATCTGTAAGCAT c.1500
Q G P I I T G L T | I L N Q T I D I C K H p.500
. . . . . . g.150982
CATGCTAACCTTTGTTTAAATGGACGCTGTATACCAACTGTCTCAAGCTACCGATGTGAA c.1560
H A N L C L N G R C I P T V S S Y R C E p.520
. . . . | 12 . . g.164169
TGCAACATGGGTTATAAGCAGGATGCAAATGGAGATTGTATAG | ATGTTGATGAATGCACA c.1620
C N M G Y K Q D A N G D C I D | V D E C T p.540
. . . . . . g.164229
TCAAATCCCTGCACTAATGGAGATTGTGTTAACACACCTGGTTCCTATTATTGTAAATGT c.1680
S N P C T N G D C V N T P G S Y Y C K C p.560
. . . . | 13 . . g.165182
CATGCTGGATTCCAGAGGACTCCTACCAAGCAAGCATGCATTG | ATATTGATGAGTGCATC c.1740
H A G F Q R T P T K Q A C I D | I D E C I p.580
. . . . . . g.165242
CAGAATGGGGTTCTTTGTAAAAACGGTCGATGCGTGAACACAGATGGAAGTTTCCAGTGC c.1800
Q N G V L C K N G R C V N T D G S F Q C p.600
. . . . | 14 . g.166200
ATTTGCAATGCCGGCTTTGAATTAACTACAGATGGAAAAAACTGTGTTG | ATCATGATGAA c.1860
I C N A G F E L T T D G K N C V D | H D E p.620
. . . . . . g.166260
TGTACAACTACCAACATGTGTTTGAATGGAATGTGCATCAATGAAGATGGCAGCTTCAAG c.1920
C T T T N M C L N G M C I N E D G S F K p.640
. . . . . | 15 . g.168300
TGCATCTGCAAACCAGGATTTGTCTTGGCTCCAAATGGGCGTTACTGTACTG | ATGTTGAT c.1980
C I C K P G F V L A P N G R Y C T D | V D p.660
. . . . . . g.168360
GAATGCCAGACCCCAGGAATCTGCATGAATGGGCACTGCATCAACAGTGAAGGGTCCTTC c.2040
E C Q T P G I C M N G H C I N S E G S F p.680
. . . . . | 16 . g.173713
CGCTGTGACTGTCCCCCAGGCCTGGCTGTGGGCATGGATGGACGTGTGTGTGTTG | ATACT c.2100
R C D C P P G L A V G M D G R V C V D | T p.700
. . . . . . g.173773
CACATGCGCAGTACCTGCTATGGAGGAATCAAGAAAGGAGTGTGTGTGCGTCCTTTCCCC c.2160
H M R S T C Y G G I K K G V C V R P F P p.720
. . . . . . g.173833
GGTGCAGTGACCAAGTCCGAATGCTGCTGTGCCAATCCAGACTATGGTTTTGGAGAACCC c.2220
G A V T K S E C C C A N P D Y G F G E P p.740
. . | 17 . . . g.176644
TGCCAGCCATGCCCTGCAAAAAATTCAG | CTGAATTCCACGGCCTTTGTAGTAGTGGAGTA c.2280
C Q P C P A K N S A | E F H G L C S S G V p.760
. . | 18 . . . . g.178355
GGTATCACTGTGGATGGAAGAG | ATATCAATGAATGTGCTTTGGATCCTGATATATGTGCC c.2340
G I T V D G R D | I N E C A L D P D I C A p.780
. . . . . . g.178415
AATGGGATTTGTGAAAACTTACGTGGTAGTTACCGTTGTAATTGCAACAGTGGCTATGAA c.2400
N G I C E N L R G S Y R C N C N S G Y E p.800
. . | 19 . . . g.181226
CCAGATGCCTCTGGAAGAAACTGTATTG | ACATTGATGAATGTTTAGTAAACAGACTGCTT c.2460
P D A S G R N C I D | I D E C L V N R L L p.820
. . . . . . g.181286
TGTGATAACGGATTGTGCCGAAACACGCCAGGAAGTTACAGCTGTACGTGCCCACCAGGG c.2520
C D N G L C R N T P G S Y S C T C P P G p.840
. . . | 20 . . . g.185674
TATGTGTTCAGGACTGAGACAGAGACCTGTGAAG | ATATAAATGAATGTGAAAGCAACCCA c.2580
Y V F R T E T E T C E D | I N E C E S N P p.860
. . . . . . g.185734
TGTGTCAATGGGGCCTGCAGAAACAACCTTGGATCTTTCAATTGTGAATGTTCGCCCGGC c.2640
C V N G A C R N N L G S F N C E C S P G p.880
. . . | 21 . . . g.192064
AGCAAACTCAGCTCCACAGGATTGATCTGTATTG | ACAGCCTGAAGGGGACCTGTTGGCTC c.2700
S K L S S T G L I C I D | S L K G T C W L p.900
. . . . . . g.192124
AACATCCAGGACAGCCGCTGTGAGGTGAATATTAATGGAGCCACTCTGAAATCTGAATGC c.2760
N I Q D S R C E V N I N G A T L K S E C p.920
. . . . . | 22 . g.193046
TGTGCCACCCTCGGAGCCGCCTGGGGGAGCCCCTGTGAGCGGTGTGAACTAG | ATACAGCT c.2820
C A T L G A A W G S P C E R C E L D | T A p.940
. . . . | 23 . . g.193588
TGCCCAAGAGGGCTTGCCAGGATTAAAGGTGTTACGTGTGAAG | ATGTTAATGAGTGTGAG c.2880
C P R G L A R I K G V T C E D | V N E C E p.960
. . . . . . g.193648
GTGTTCCCTGGCGTTTGTCCAAATGGACGCTGTGTCAACAGTAAGGGATCTTTTCATTGC c.2940
V F P G V C P N G R C V N S K G S F H C p.980
. . . . | 24 . g.197470
GAGTGCCCTGAAGGCCTTACGTTGGATGGGACTGGCCGTGTATGTTTGG | ATATTCGCATG c.3000
E C P E G L T L D G T G R V C L D | I R M p.1000
. . . . . . g.197530
GAGCAGTGTTACTTGAAGTGGGATGAAGATGAATGCATCCACCCCGTTCCTGGAAAGTTC c.3060
E Q C Y L K W D E D E C I H P V P G K F p.1020
. . . . . . g.197590
CGCATGGATGCCTGCTGCTGTGCTGTCGGGGCGGCTTGGGGCACCGAGTGTGAGGAGTGC c.3120
R M D A C C C A V G A A W G T E C E E C p.1040
. . . . . . g.197650
CCCAAACCTGGCACCAAGGAATACGAGACGCTGTGCCCCCGCGGGGCTGGCTTTGCTAAC c.3180
P K P G T K E Y E T L C P R G A G F A N p.1060
. . . | 25. . . g.198556
CGAGGGGATGTTCTTACTGGGCGGCCATTTTACAAAG | ACATCAATGAATGCAAAGCATTT c.3240
R G D V L T G R P F Y K D | I N E C K A F p.1080
. . . . . . g.198616
CCTGGGATGTGCACTTATGGGAAGTGCAGAAATACAATCGGAAGCTTCAAATGCCGTTGC c.3300
P G M C T Y G K C R N T I G S F K C R C p.1100
. . . . | 26 . . g.203999
AATAGTGGCTTTGCTCTAGACATGGAGGAAAGAAACTGCACGG | ACATCGACGAGTGCAGG c.3360
N S G F A L D M E E R N C T D | I D E C R p.1120
. . . . . . g.204059
ATTTCTCCTGACCTCTGTGGCAGTGGAATCTGCGTCAATACACCGGGCAGCTTTGAGTGC c.3420
I S P D L C G S G I C V N T P G S F E C p.1140
. . . . . | 27 . g.204929
GAGTGCTTCGAAGGCTATGAAAGTGGCTTCATGATGATGAAGAACTGCATGG | ACATTGAC c.3480
E C F E G Y E S G F M M M K N C M D | I D p.1160
. . . . . . g.204989
GAATGTGAACGTAACCCTCTCCTTTGTAGGGGTGGCACCTGTGTGAACACTGAGGGCAGC c.3540
E C E R N P L L C R G G T C V N T E G S p.1180
. . . . . | 28 g.206932
TTTCAGTGTGACTGCCCACTGGGACACGAGCTGTCACCATCCCGTGAGGACTGTGTGG | AT c.3600
F Q C D C P L G H E L S P S R E D C V D | p.1200
. . . . . . g.206992
ATTAATGAATGCTCCCTGAGTGACAATCTCTGCAGAAATGGAAAATGTGTGAACATGATT c.3660
I N E C S L S D N L C R N G K C V N M I p.1220
. . . . . . g.207052
GGAACCTATCAGTGCTCTTGCAATCCTGGATATCAGGCTACGCCAGACCGCCAGGGCTGT c.3720
G T Y Q C S C N P G Y Q A T P D R Q G C p.1240
| 29 . . . . . . g.207522
ACAG | ATATTGATGAATGTATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTCA c.3780
T D | I D E C M I M N G G C D T Q C T N S p.1260
. . . . . . g.207582
GAGGGAAGCTACGAATGCAGCTGCAGTGAGGGTTATGCCCTGATGCCAGATGGGAGATCG c.3840
E G S Y E C S C S E G Y A L M P D G R S p.1280
| 30. . . . . . g.207801
TGTGCAG | ACATTGATGAATGTGAAAACAATCCTGATATCTGTGATGGCGGCCAGTGTACC c.3900
C A D | I D E C E N N P D I C D G G Q C T p.1300
. . . . . . g.207861
AACATTCCTGGAGAGTATCGCTGCCTCTGCTATGATGGCTTCATGGCTTCCATGGACATG c.3960
N I P G E Y R C L C Y D G F M A S M D M p.1320
. | 31 . . . . . g.208246
AAAACATGCATTG | ATGTCAATGAATGTGACCTAAATTCAAATATCTGCATGTTTGGGGAA c.4020
K T C I D | V N E C D L N S N I C M F G E p.1340
. . . . . . g.208306
TGTGAGAACACAAAGGGATCCTTCATTTGCCACTGTCAGCTGGGTTACTCAGTGAAGAAG c.4080
C E N T K G S F I C H C Q L G Y S V K K p.1360
. | 32 . . . . g.210050
GGGACCACAGGATGTACAG | ATGTGGATGAGTGTGAAATTGGTGCTCATAACTGCGACATG c.4140
G T T G C T D | V D E C E I G A H N C D M p.1380
. . . . . . g.210110
CATGCCTCATGTCTGAATATCCCAGGAAGCTTCAAGTGTAGCTGCAGAGAAGGCTGGATT c.4200
H A S C L N I P G S F K C S C R E G W I p.1400
. . | 33 . . . . g.212386
GGAAACGGCATCAAGTGTATTG | ATCTGGACGAATGTTCTAATGGAACCCACCAGTGTAGC c.4260
G N G I K C I D | L D E C S N G T H Q C S p.1420
. . . . . . g.212446
ATCAATGCTCAGTGTGTAAATACCCCGGGCTCATACCGCTGTGCCTGCTCCGAAGGTTTC c.4320
I N A Q C V N T P G S Y R C A C S E G F p.1440
. . | 34 . . . . g.214257
ACTGGTGATGGCTTTACCTGCTCAG | ATGTTGATGAGTGTGCAGAAAACATAAACCTCTGT c.4380
T G D G F T C S D | V D E C A E N I N L C p.1460
. . . . . . g.214317
GAGAACGGACAGTGCCTTAATGTCCCGGGTGCATATCGCTGCGAGTGTGAGATGGGCTTC c.4440
E N G Q C L N V P G A Y R C E C E M G F p.1480
. . . | 35 . . . g.224071
ACTCCAGCCTCAGACAGCAGATCCTGCCAAG | ATATTGATGAATGCTCCTTCCAAAACATT c.4500
T P A S D S R S C Q D | I D E C S F Q N I p.1500
. . . . . . g.224131
TGTGTCTTTGGAACATGTAATAACCTGCCTGGAATGTTTCATTGCATCTGCGATGATGGT c.4560
C V F G T C N N L P G M F H C I C D D G p.1520
. . . | 36 . . . g.224798
TATGAATTGGACAGAACAGGAGGGAACTGTACAG | ATATTGATGAGTGTGCAGATCCTATA c.4620
Y E L D R T G G N C T D | I D E C A D P I p.1540
. . . . . . g.224858
AACTGTGTCAATGGCCTATGTGTCAACACGCCTGGTCGCTATGAGTGTAACTGCCCACCC c.4680
N C V N G L C V N T P G R Y E C N C P P p.1560
. . . | 37. . . g.230271
GATTTTCAGTTGAACCCAACTGGTGTGGGTTGTGTTG | ACAACCGTGTGGGCAACTGCTAC c.4740
D F Q L N P T G V G C V D | N R V G N C Y p.1580
. . . . . . g.230331
CTGAAGTTTGGACCTCGAGGAGATGGGAGTCTGTCTTGCAACACCGAGATCGGGGTGGGC c.4800
L K F G P R G D G S L S C N T E I G V G p.1600
. . . . . . g.230391
GTCAGTCGCTCTTCATGCTGCTGCTCTCTGGGAAAGGCCTGGGGAAACCCCTGTGAGACA c.4860
V S R S S C C C S L G K A W G N P C E T p.1620
. | 38 . . . . g.231131
TGCCCCCCTGTCAATAGCA | CTGAATATTACACCCTGTGTCCCGGAGGTGAAGGCTTCAGA c.4920
C P P V N S T | E Y Y T L C P G G E G F R p.1640
. . | 39 . . . g.231650
CCTAACCCCATCACAATCATTTTAGAAG | ACATTGACGAATGCCAGGAGTTACCAGGTCTC c.4980
P N P I T I I L E D | I D E C Q E L P G L p.1660
. . . . . . g.231710
TGCCAGGGTGGAAACTGCATCAACACTTTTGGGAGCTTCCAGTGTGAGTGCCCACAAGGC c.5040
C Q G G N C I N T F G S F Q C E C P Q G p.1680
. . . | 40 . . . g.232961
TACTACCTCAGCGAGGATACCCGCATCTGTGAAG | ATATTGATGAGTGTTTTGCACATCCT c.5100
Y Y L S E D T R I C E D | I D E C F A H P p.1700
. . . . . . g.233021
GGTGTGTGTGGGCCTGGGACCTGCTATAACACCCTGGGAAATTACACCTGCATTTGCCCA c.5160
G V C G P G T C Y N T L G N Y T C I C P p.1720
. . . . | 41 . . g.233664
CCTGAGTACATGCAGGTCAATGGAGGCCACAACTGCATGG | ACATGAGAAAAAGCTTTTGC c.5220
P E Y M Q V N G G H N C M D | M R K S F C p.1740
. . . . . . g.233724
TACCGAAGCTATAATGGAACCACTTGTGAGAATGAGTTGCCTTTCAATGTGACAAAAAGG c.5280
Y R S Y N G T T C E N E L P F N V T K R p.1760
. . . . . . g.233784
ATGTGCTGCTGCACATATAATGTGGGCAAAGCCTGGAACAAACCTTGTGAACCATGCCCA c.5340
M C C C T Y N V G K A W N K P C E P C P p.1780
. | 42 . . . . . g.235887
ACTCCAGGAACAG | CTGACTTTAAAACCATATGTGGAAATATTCCTGGATTCACCTTTGAC c.5400
T P G T A | D F K T I C G N I P G F T F D p.1800
. . | 43 . . . . g.237133
ATTCACACAGGAAAAGCTGTTG | ACATTGATGAATGTAAAGAGATTCCAGGCATTTGTGCA c.5460
I H T G K A V D | I D E C K E I P G I C A p.1820
. . . . . . g.237193
AATGGTGTGTGCATTAACCAGATTGGCAGTTTCCGCTGTGAATGCCCTACAGGATTCAGT c.5520
N G V C I N Q I G S F R C E C P T G F S p.1840
. . | 44 . . . g.237439
TACAATGACCTGCTGTTGGTTTGTGAAG | ATATAGATGAGTGCAGCAATGGTGATAATCTC c.5580
Y N D L L L V C E D | I D E C S N G D N L p.1860
. . . . . . g.237499
TGCCAGCGGAATGCAGACTGCATCAATAGTCCTGGTAGTTACCGCTGTGAATGTGCCGCG c.5640
C Q R N A D C I N S P G S Y R C E C A A p.1880
. . . | 45 . . . g.237987
GGTTTCAAACTTTCACCCAATGGGGCCTGTGTAG | ATCGCAATGAATGTTTAGAAATTCCT c.5700
G F K L S P N G A C V D | R N E C L E I P p.1900
. . . . . . g.238047
AACGTTTGCAGTCATGGCTTGTGTGTTGATCTGCAAGGAAGTTACCAGTGCATCTGCCAC c.5760
N V C S H G L C V D L Q G S Y Q C I C H p.1920
. . . . | 46 . . g.239974
AATGGCTTTAAGGCTTCTCAGGACCAGACCATGTGCATGG | ATGTTGATGAGTGCGAGCGG c.5820
N G F K A S Q D Q T M C M D | V D E C E R p.1940
. . . . . . g.240034
CATCCATGTGGAAATGGAACTTGTAAAAACACCGTTGGATCCTATAACTGTCTGTGCTAC c.5880
H P C G N G T C K N T V G S Y N C L C Y p.1960
. . . | 47. . . g.241556
CCAGGGTTTGAACTCACTCATAATAATGATTGCCTGG | ACATAGATGAGTGCAGTTCCTTT c.5940
P G F E L T H N N D C L D | I D E C S S F p.1980
. . . . . . g.241616
TTTGGTCAGGTGTGCAGAAATGGACGTTGTTTTAATGAAATTGGTTCTTTCAAGTGTCTA c.6000
F G Q V C R N G R C F N E I G S F K C L p.2000
. . . . | 48 . . g.242121
TGTAACGAAGGTTATGAACTTACCCCAGATGGCAAAAACTGTATAG | ACACTAATGAGTGT c.6060
C N E G Y E L T P D G K N C I D | T N E C p.2020
. . . . . . g.242181
GTCGCCCTTCCCGGCTCTTGCTCTCCTGGTACCTGTCAGAATTTGGAGGGATCCTTCAGA c.6120
V A L P G S C S P G T C Q N L E G S F R p.2040
. . . . | 49 . . g.251403
TGCATCTGTCCCCCAGGGTATGAAGTAAAAAGCGAGAACTGCATTG | ATATAAATGAATGT c.6180
C I C P P G Y E V K S E N C I D | I N E C p.2060
. . . . . . g.251463
GATGAAGATCCCAACATTTGTCTTTTTGGTTCCTGTACTAATACTCCAGGGGGCTTCCAG c.6240
D E D P N I C L F G S C T N T P G G F Q p.2080
. . . . . | 50 . g.252167
TGCCTCTGCCCCCCTGGCTTTGTACTATCTGATAATGGACGGAGATGCTTTG | ATACTCGC c.6300
C L C P P G F V L S D N G R R C F D | T R p.2100
. . . . . . g.252227
CAGAGCTTCTGCTTCACAAATTTTGAAAATGGAAAGTGTTCTGTACCCAAAGCTTTCAAC c.6360
Q S F C F T N F E N G K C S V P K A F N p.2120
. . . . . . g.252287
ACCACAAAAGCAAAATGCTGCTGTAGTAAGATGCCAGGAGAGGGCTGGGGGGACCCCTGT c.6420
T T K A K C C C S K M P G E G W G D P C p.2140
. . | 51 . . . . g.253131
GAGCTGTGCCCCAAAGACGATGAAG | TTGCATTTCAGGATTTGTGTCCATATGGCCATGGA c.6480
E L C P K D D E V | A F Q D L C P Y G H G p.2160
. . . | 52 . . . g.253820
ACTGTCCCTAGTCTTCATGATACACGTGAAG | ATGTCAATGAGTGTCTTGAGAGCCCAGGC c.6540
T V P S L H D T R E D | V N E C L E S P G p.2180
. . . . . . g.253880
ATTTGTTCAAATGGTCAATGTATCAACACCGACGGATCTTTTCGCTGTGAATGTCCAATG c.6600
I C S N G Q C I N T D G S F R C E C P M p.2200
. . . | 53. . . g.254509
GGCTACAACCTTGACTACACTGGAGTACGCTGTGTGG | ATACTGATGAGTGTTCAATCGGC c.6660
G Y N L D Y T G V R C V D | T D E C S I G p.2220
. . . . . . g.254569
AATCCGTGTGGAAATGGTACATGCACCAATGTTATTGGGAGTTTTGAATGCAATTGCAAT c.6720
N P C G N G T C T N V I G S F E C N C N p.2240
. . . | 54. . . g.255636
GAAGGCTTTGAGCCAGGGCCCATGATGAATTGTGAAG | ATATCAACGAATGTGCCCAGAAC c.6780
E G F E P G P M M N C E D | I N E C A Q N p.2260
. . . . . . g.255696
CCACTGCTGTGTGCTTTCCGCTGCATGAACACTTTTGGGTCCTATGAATGCACGTGCCCG c.6840
P L L C A F R C M N T F G S Y E C T C P p.2280
. . . . | 55 . . g.256214
ATTGGCTATGCCCTCAGGGAAGATCAAAAGATGTGCAAAG | ATCTGGATGAATGTGCTGAA c.6900
I G Y A L R E D Q K M C K D | L D E C A E p.2300
. . . . . . g.256274
GGGTTACACGACTGTGAATCTAGGGGCATGATGTGTAAGAATCTAATCGGCACCTTCATG c.6960
G L H D C E S R G M M C K N L I G T F M p.2320
. . . . . | 56 . g.262734
TGCATCTGCCCTCCTGGAATGGCCCGAAGGCCCGATGGAGAAGGCTGTGTAG | ATGAAAAT c.7020
C I C P P G M A R R P D G E G C V D | E N p.2340
. . . . . . g.262794
GAATGCAGGACCAAGCCAGGAATCTGTGAAAATGGACGTTGTGTTAACATTATTGGAAGC c.7080
E C R T K P G I C E N G R C V N I I G S p.2360
. . . . . | 57 g.264204
TATAGATGTGAGTGTAATGAAGGATTCCAGTCAAGTTCTTCAGGCACTGAATGCCTTG | AC c.7140
Y R C E C N E G F Q S S S S G T E C L D | p.2380
. . . . . . g.264264
AATCGACAGGGTCTCTGCTTTGCAGAGGTACTGCAGACAATATGTCAAATGGCATCCAGT c.7200
N R Q G L C F A E V L Q T I C Q M A S S p.2400
. . . . . . g.264324
AGTCGCAATCTCGTCACTAAGTCAGAATGCTGCTGTGATGGTGGGCGAGGCTGGGGCCAC c.7260
S R N L V T K S E C C C D G G R G W G H p.2420
. . . . . . g.264384
CAGTGCGAGCTTTGCCCACTTCCTGGAACTGCCCAGTACAAAAAGATATGTCCTCATGGC c.7320
Q C E L C P L P G T A Q Y K K I C P H G p.2440
. . | 58 . . . . g.265073
CCAGGATATACAACTGATGGAAGAG | ATATTGATGAATGTAAGGTAATGCCAAACCTCTGC c.7380
P G Y T T D G R D | I D E C K V M P N L C p.2460
. . . . . . g.265133
ACCAATGGTCAGTGCATCAATACCATGGGCTCATTCCGATGCTTCTGCAAGGTTGGCTAC c.7440
T N G Q C I N T M G S F R C F C K V G Y p.2480
. . . | 59 . . . g.266912
ACCACAGACATCAGTGGAACCTCTTGTATAG | ACCTTGATGAATGCTCCCAGTCCCCGAAA c.7500
T T D I S G T S C I D | L D E C S Q S P K p.2500
. . . . . . g.266972
CCATGCAACTACATCTGCAAGAACACTGAGGGGAGTTATCAGTGTTCATGTCCGAGGGGG c.7560
P C N Y I C K N T E G S Y Q C S C P R G p.2520
. . . | 60 . . . g.268386
TATGTCCTGCAAGAGGATGGAAAGACATGCAAAG | ACCTTGATGAATGTCAAACAAAGCAG c.7620
Y V L Q E D G K T C K D | L D E C Q T K Q p.2540
. . . . . . g.268446
CATAACTGCCAGTTCCTCTGTGTCAACACCCTGGGGGGGTTTACCTGTAAATGTCCACCT c.7680
H N C Q F L C V N T L G G F T C K C P P p.2560
. . . | 61 . . . g.269104
GGTTTCACACAGCATCACACTGCTTGTATCG | ACAACAACGAATGTGGGTCTCAACCTTCG c.7740
G F T Q H H T A C I D | N N E C G S Q P S p.2580
. . . . . . g.269164
CTTTGTGGAGCAAAGGGAATCTGTCAAAACACTCCAGGCAGTTTCAGCTGTGAATGCCAA c.7800
L C G A K G I C Q N T P G S F S C E C Q p.2600
. . . . | 62 . . g.270945
AGAGGGTTCTCTCTTGATGCCACCGGACTGAACTGTGAAG | ATGTTGATGAATGTGATGGG c.7860
R G F S L D A T G L N C E D | V D E C D G p.2620
. . . . . . g.271005
AACCACAGGTGCCAACACGGCTGCCAGAACATCCTGGGTGGCTACAGATGTGGCTGCCCC c.7920
N H R C Q H G C Q N I L G G Y R C G C P p.2640
. . . . | 63 . . g.279407
CAAGGCTACATCCAGCACTACCAGTGGAATCAGTGTGTCG | ATGAGAATGAATGCTCCAAT c.7980
Q G Y I Q H Y Q W N Q C V D | E N E C S N p.2660
. . . . . . g.279467
CCCAATGCCTGTGGCTCTGCTTCCTGCTACAACACCCTGGGGAGTTACAAGTGCGCCTGC c.8040
P N A C G S A S C Y N T L G S Y K C A C p.2680
. . . . . . g.279527
CCCTCGGGGTTCTCCTTCGACCAGTTCTCCAGTGCCTGCCACGACGTGAATGAGTGCTCG c.8100
P S G F S F D Q F S S A C H D V N E C S p.2700
. . . . . . g.279587
TCCTCCAAGAACCCCTGCAATTACGGCTGCTCTAACACGGAGGGGGGCTACCTCTGTGGC c.8160
S S K N P C N Y G C S N T E G G Y L C G p.2720
. . . | 64 . . . g.281164
TGCCCCCCTGGGTATTACAGAGTGGGACAAGG | CCACTGTGTCTCAGGAATGGGATTTAAC c.8220
C P P G Y Y R V G Q G | H C V S G M G F N p.2740
. . . . . . g.281224
AAGGGGCAGTACCTGTCACTGGATACAGAGGTCGATGAGGAAAATGCTCTGTCCCCAGAA c.8280
K G Q Y L S L D T E V D E E N A L S P E p.2760
. . . . . . g.281284
GCATGCTACGAGTGCAAAATCAACGGCTATTCTAAGAAAGACAGCAGGCAGAAGAGAAGT c.8340
A C Y E C K I N G Y S K K D S R Q K R S p.2780
. . | 65 . . . . g.283250
ATTCATGAACCTGATCCCACTGCT | GTTGAACAGATCAGCCTAGAGAGTGTCGACATGGAC c.8400
I H E P D P T A | V E Q I S L E S V D M D p.2800
. . . . . . g.283310
AGCCCCGTCAACATGAAGTTCAACCTCTCCCACCTCGGCTCTAAGGAGCACATCCTGGAA c.8460
S P V N M K F N L S H L G S K E H I L E p.2820
. . . . . . g.283370
CTAAGGCCCGCCATCCAGCCCCTCAACAACCACATCCGTTATGTCATCTCTCAAGGGAAC c.8520
L R P A I Q P L N N H I R Y V I S Q G N p.2840
. . . . . . g.283430
GATGACAGCGTCTTCCGCATCCACCAAAGGAATGGGCTCAGCTACTTGCACACGGCCAAG c.8580
D D S V F R I H Q R N G L S Y L H T A K p.2860
. . . . . . g.283490
AAGAAGCTCATGCCCGGCACATACACACTGGAAATCACTAGCATCCCTCTCTACAAGAAG c.8640
K K L M P G T Y T L E I T S I P L Y K K p.2880
. . . . . . g.283550
AAGGAGCTTAAGAAACTGGAAGAGAGCAATGAGGATGACTACCTCCTAGGGGAGCTTGGG c.8700
K E L K K L E E S N E D D Y L L G E L G p.2900
. . . g.283589
GAGGCTCTCAGAATGAGGCTGCAGATTCAGCTCTATTAA c.8739
E A L R M R L Q I Q L Y X p.2912
. . . . . . g.283649
cccttcacagacttgggcccaggctcaaatcctagcacagccagtctgcagaagcatttg c.*60
. . . . . . g.283709
aaaagtcaaggactaattttaaagaggaaaaataataataactcttgtttctttcctccc c.*120
. . . . . . g.283769
tgtcttagactttgaatgttgaccctcacagggagggataatttagactctggtatggcc c.*180
. . . . . . g.283829
aaagatttgagcacaaaggcaaccgtggttactgtattttttatataacttcattttaaa c.*240
. . . . . . g.283889
atatattaaaagaaacctaaatgttcaagatatcagcatatggcactaaatgcacaaaaa c.*300
. . . . . . g.283949
taatgtgagctttttttttttttcctgttagcagtctgtaacactttgggtattttgcta c.*360
. . . . . . g.284009
tagttgctaattaaaaaaatatagatgtttatttatttttaatgcagtaatatatggaga c.*420
. . . . . . g.284069
aatgaacaaactatgtaaacaaaaagggaaactcacttgtttttctttagatttataaat c.*480
. . . . . . g.284129
ttgagctattttttttagaggtgctttttaaaaatccaatagatacaagagatgtttcct c.*540
. . . . . . g.284189
ttggttttctgccagtcatccagctgatacacacctgatgattttaaagaaagccacaca c.*600
. . . . . . g.284249
gagctgaatgggcagtgtaatcaataatttaaaaaacatgaatgtcattagatcctttat c.*660
. . . . . . g.284309
aacgtagatcgaagccaaagcagctcatttgtgacaacatttcatatcaccagacacacc c.*720
. . . . . . g.284369
aggcaacagaagttgaagcacaaccactgtagcaaaataccttgactgcttgtgagacca c.*780
. . . . . . g.284429
ttagcattgcaggccaaaccgtactgtatttccttctcataacctcaaggaaccatatgt c.*840
. . . . . . g.284489
gctacccacaacacctcattcttacccagggtgcgctgcgtcctcatggtactgtaggca c.*900
. . . . . . g.284549
gctgaagaaccgccgttcccttgaaagggaacacctggcattctgtggtgtttcgtgctg c.*960
. . . . . . g.284609
tcttaaataatggtgcatttattatgttcaagttatttcaggattgccatatgtgcaaac c.*1020
. . . . . . g.284669
aaatcatgcaatgcagccaaggaatatatgttgttgttgttgttttaaacccattttttt c.*1080
. . . . . . g.284729
tttagaattttcattaatactgtagttatacaccatatgcctcattttatcatagcctat c.*1140
. . . . . . g.284789
tgtgtatgaaagatgtttgtacaatgaattgatgtttagtttgctttagtcatttaaaaa c.*1200
. . . . . . g.284849
gatattgtaccaggatgtgctattaagagcacgtatccattattcttctcaacccaagaa c.*1260
. . . . . . g.284909
cctgtttcctggaccagtgaccaaacctcatatgtgaaatggccaaagcacatgcaggct c.*1320
. . . . . . g.284969
cctggttgttcctctcaaacctgtgctgaccaaagattagtaaccagttatacccagtat c.*1380
. . . . . . g.285029
tttgaggttttattgtttttttaataactaaaaagaaaaaaggaacagtgtaaatttgta c.*1440
. . . . . . g.285089
atcaagagtttgtgaggaaaaacttatggtttttggttttgtttgtttttgtaggtctgt c.*1500
. . . . g.285135
gtatcaaatatgacacttttcttgcaataaagcttattttggggta c.*1546
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 15
©2004-2016 Leiden University Medical Center