(used for variant description)
(last modified January 16, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_198836.1 in the ACACA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering ACACA transcript NM_198836.1.
(upstream sequence)
. g.55854
cggcctggtgc c.-181
. . . . . . g.55914
tgcacgcctgtcagccatcgcccgagccgccggcgtctcctcccgcccagcagttcctcc c.-121
. . . . . | 02 . g.75105
acgcaggggctccggaatcgcccgaccgcacacgttgccaccctgag | gtctttctggaag c.-61
. . . . | 03 . . g.84563
tggatatctactcagacagtaagaattataagag | ctgtaagagctcattttggaggaata c.-1
. . . . . . g.84623
ATGGATGAACCATCTCCCTTGGCCCAACCTCTGGAGCTGAACCAGCACTCTCGATTCATA c.60
M D E P S P L A Q P L E L N Q H S R F I p.20
. . . . . . g.84683
ATAGGTTCTGTGTCTGAAGATAACTCAGAGGATGAGATCAGCAACCTGGTGAAGTTGGAC c.120
I G S V S E D N S E D E I S N L V K L D p.40
. . . . . . g.84743
CTACTGGAGGAGAAGGAGGGCTCCTTGTCACCTGCTTCTGTTGGCTCAGATACACTCTCT c.180
L L E E K E G S L S P A S V G S D T L S p.60
. . . . | 04. . g.130044
GATTTGGGGATCTCTAGCCTACAGGATGGCTTGGCCTTGCACATAAG | GTCCAGCATGTCT c.240
D L G I S S L Q D G L A L H I R | S S M S p.80
. . . . . . g.130104
GGCTTGCACCTAGTAAAGCAGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTC c.300
G L H L V K Q G R D R K K I D S Q R D F p.100
. . . . . . g.130164
ACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAAGTGATTGAGAAG c.360
T V A S P A E F V T R F G G N K V I E K p.120
| 05 . . . . . . g.131656
| GTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGG c.420
| V L I A N N G I A A V K C M R S I R R W p.140
. . . . . . g.131716
TCTTATGAAATGTTTCGAAATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAA c.480
S Y E M F R N E R A I R F V V M V T P E p.160
. | 06 . . . . g.137045
GACCTTAAAGCCAATGCAG | AATACATTAAGATGGCAGATCACTATGTGCCAGTGCCTGGA c.540
D L K A N A E | Y I K M A D H Y V P V P G p.180
. . . . . . g.137105
GGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATC c.600
G P N N N N Y A N V E L I L D I A K R I p.200
| 07 . . . . . g.137946
CCAGTACAA | GCAGTGTGGGCTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAA c.660
P V Q | A V W A G W G H A S E N P K L P E p.220
. . . | 08 . . . g.138989
CTTCTCTTGAAAAATGGCATTGCCTTCATGG | GTCCTCCAAGCCAGGCCATGTGGGCTTTA c.720
L L L K N G I A F M G | P P S Q A M W A L p.240
. . . . . . g.139049
GGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGG c.780
G D K I A S S I V A Q T A G I P T L P W p.260
. | 09 . . . . . g.140762
AGCGGCAGTG | GTCTTCGTGTGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAAT c.840
S G S G | L R V D W Q E N D F S K R I L N p.280
. . . . . | 10. g.144153
GTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGATGGGCTACAG | GCA c.900
V P Q E L Y E K G Y V K D V D D G L Q | A p.300
. . . . . . g.144213
GCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGA c.960
A E E V G Y P V M I K A S E G G G G K G p.320
. . . . | 11 . g.151117
ATTAGAAAAGTCAACAATGCAGATGACTTCCCTAATCTCTTCAGACAG | GTTCAAGCTGAA c.1020
I R K V N N A D D F P N L F R Q | V Q A E p.340
. . . . . . g.151177
GTTCCTGGATCTCCCATATTTGTGATGAGACTAGCCAAACAATCTCGTCATCTGGAGGTG c.1080
V P G S P I F V M R L A K Q S R H L E V p.360
. . . . . . g.151237
CAGATCTTAGCGGACCAATATGGCAATGCTATCTCTTTGTTTGGTCGTGATTGCTCTGTA c.1140
Q I L A D Q Y G N A I S L F G R D C S V p.380
. . . . . . g.151297
CAACGCAGGCATCAGAAGATTATTGAAGAAGCACCTGCTACTATTGCTACTCCAGCAGTA c.1200
Q R R H Q K I I E E A P A T I A T P A V p.400
. | 12 . . . . g.155492
TTTGAACACATGGAACAG | TGTGCGGTGAAACTTGCCAAAATGGTGGGTTATGTGAGTGCT c.1260
F E H M E Q | C A V K L A K M V G Y V S A p.420
. . . . . . g.155552
GGGACTGTGGAATACCTGTACAGCCAGGATGGCAGCTTCTACTTTCTGGAATTGAATCCT c.1320
G T V E Y L Y S Q D G S F Y F L E L N P p.440
. . . . . . g.155612
CGGCTGCAGGTAGAGCACCCTTGTACAGAGATGGTGGCTGATGTCAATCTCCCTGCAGCA c.1380
R L Q V E H P C T E M V A D V N L P A A p.460
| 13 . . . . . g.156658
CAGCTCCAG | ATTGCCATGGGGATTCCTCTATATAGAATCAAGGATATCCGTATGATGTAT c.1440
Q L Q | I A M G I P L Y R I K D I R M M Y p.480
. . . . . . g.156718
GGGGTATCTCCCTGGGGTGATTCTCCCATTGATTTTGAAGATTCTGCACACGTTCCTTGT c.1500
G V S P W G D S P I D F E D S A H V P C p.500
. . . . . | 14 . g.157123
CCAAGGGGCCATGTTATTGCTGCTCGGATCACTAGTGAAAATCCAGATGAG | GGTTTTAAG c.1560
P R G H V I A A R I T S E N P D E | G F K p.520
. . . . . . g.157183
CCCAGCTCAGGAACAGTTCAGGAGCTAAATTTCCGCAGCAATAAGAATGTTTGGGGATAT c.1620
P S S G T V Q E L N F R S N K N V W G Y p.540
. . . . . . g.157243
TTCAGTGTTGCTGCTGCAGGGGGACTTCATGAATTTGCTGATTCTCAGTTTGGTCACTGC c.1680
F S V A A A G G L H E F A D S Q F G H C p.560
. . . | 15 . . . g.161965
TTTTCTTGGGGAGAAAACAGAGAAGAGGCAATTTC | AAACATGGTGGTGGCTTTGAAGGAG c.1740
F S W G E N R E E A I S | N M V V A L K E p.580
. . . . . . g.162025
CTGTCTATTCGGGGTGACTTTCGAACTACAGTTGAATACCTGATCAAATTGTTAGAGACT c.1800
L S I R G D F R T T V E Y L I K L L E T p.600
. . . . . . g.162085
GAAAGCTTTCAGATGAACAGAATTGATACTGGCTGGCTGGACAGACTGATAGCAGAAAAA c.1860
E S F Q M N R I D T G W L D R L I A E K p.620
| 16 . . . . . . g.162922
GTACAG | GCTGAGCGACCTGACACCATGTTGGGGGTTGTGTGTGGTGCCCTCCACGTGGCA c.1920
V Q | A E R P D T M L G V V C G A L H V A p.640
. . . . . | 17 . g.166314
GATGTGAGCCTGCGGAATAGCGTCTCTAACTTCCTTCACTCCTTAGAAAG | GGGTCAAGTC c.1980
D V S L R N S V S N F L H S L E R | G Q V p.660
. . . . . . g.166374
CTTCCTGCTCATACACTTCTGAATACAGTAGATGTTGAACTTATCTATGAGGGAGTCAAG c.2040
L P A H T L L N T V D V E L I Y E G V K p.680
. | 18 . . . . . g.166870
TATGTACTTAAG | GTGACTCGACAGTCCCCCAACTCCTATGTGGTGATCATGAATGGCTCA c.2100
Y V L K | V T R Q S P N S Y V V I M N G S p.700
. . . . . . g.166930
TGTGTAGAAGTAGATGTACATCGGCTGAGTGACGGTGGACTGCTCTTGTCCTATGATGGC c.2160
C V E V D V H R L S D G G L L L S Y D G p.720
. . . | 19 . . g.168032
AGCAGTTATACTACGTATATGAAAGAGGAAGTGGATAG | ATATCGCATCACAATTGGCAAT c.2220
S S Y T T Y M K E E V D R | Y R I T I G N p.740
. . . . . . g.168092
AAAACCTGTGTGTTTGAGAAGGAAAATGACCCATCGGTGATGCGCTCACCTTCTGCTGGG c.2280
K T C V F E K E N D P S V M R S P S A G p.760
. . . . . . g.168152
AAGTTAATCCAGTACATTGTAGAAGATGGAGGTCATGTGTTTGCCGGCCAGTGCTATGCT c.2340
K L I Q Y I V E D G G H V F A G Q C Y A p.780
| 20 . . . . . g.169823
GAGATTGAG | GTAATGAAGATGGTAATGACCTTAACAGCTGTGGAGTCTGGCTGTATCCAT c.2400
E I E | V M K M V M T L T A V E S G C I H p.800
. . . . . . g.169883
TACGTCAAGCGACCTGGAGCAGCTCTTGACCCTGGCTGTGTACTAGCCAAAATGCAACTG c.2460
Y V K R P G A A L D P G C V L A K M Q L p.820
. . | 21 . . . . g.170288
GACAACCCCAGCAAGGTTCAGCAG | GCTGAACTTCACACAGGTAGTCTGCCACGGATCCAG c.2520
D N P S K V Q Q | A E L H T G S L P R I Q p.840
. . . . . . g.170348
AGCACGGCACTCAGAGGCGAGAAACTCCATCGAGTGTTCCATTATGTCCTGGATAATCTG c.2580
S T A L R G E K L H R V F H Y V L D N L p.860
. . . . . | 22 . g.171436
GTCAATGTAATGAATGGATACTGCCTTCCAGATCCTTTCTTTAGCAGCAAG | GTAAAAGAC c.2640
V N V M N G Y C L P D P F F S S K | V K D p.880
. . . . . . g.171496
TGGGTAGAGCGATTGATGAAAACCCTCAGAGATCCCTCCCTGCCTCTCCTAGAATTGCAA c.2700
W V E R L M K T L R D P S L P L L E L Q p.900
. . . . . . g.171556
GATATTATGACCAGTGTGTCTGGCCGCATTCCCCCCAATGTGGAGAAGTCTATCAAGAAG c.2760
D I M T S V S G R I P P N V E K S I K K p.920
. . . . . . g.171616
GAAATGGCTCAGTATGCTAGCAACATCACATCAGTCCTCTGTCAGTTTCCCAGCCAGCAG c.2820
E M A Q Y A S N I T S V L C Q F P S Q Q p.940
| 23 . . . . . . g.172993
| ATTGCAAACATCCTAGATAGCCATGCAGCTACATTGAACCGGAAATCTGAACGGGAAGTC c.2880
| I A N I L D S H A A T L N R K S E R E V p.960
. . . . | 24 . . g.174441
TTCTTTATGAATACTCAGAGCATTGTTCAGCTGGTACAGAG | GTACCGAAGTGGCATCCGA c.2940
F F M N T Q S I V Q L V Q R | Y R S G I R p.980
. . . . . . g.174501
GGCCACATGAAGGCTGTGGTGATGGATCTGCTCCGGCAGTACCTGCGAGTAGAGACACAA c.3000
G H M K A V V M D L L R Q Y L R V E T Q p.1000
. | 25 . . . . . g.179938
TTCCAGAATG | GTCACTATGACAAATGTGTATTCGCCCTCCGAGAAGAGAATAAAAGTGAC c.3060
F Q N G | H Y D K C V F A L R E E N K S D p.1020
. . . . . . g.179998
ATGAACACTGTACTGAACTACATCTTCTCTCACGCTCAAGTCACCAAGAAGAATCTTCTG c.3120
M N T V L N Y I F S H A Q V T K K N L L p.1040
. | 26 . . . . . g.188574
GTCACAATGCTTATT | GATCAGTTGTGTGGCCGGGACCCTACTCTCACTGATGAGCTGCTG c.3180
V T M L I | D Q L C G R D P T L T D E L L p.1060
. . . . . . g.188634
AATATTCTCACAGAGCTAACTCAACTCAGTAAGACCACCAATGCCAAAGTAGCACTTCGA c.3240
N I L T E L T Q L S K T T N A K V A L R p.1080
| 27 . . . . . g.189927
GCACGCCAG | GTTCTTATTGCCTCCCATTTGCCATCATATGAGCTTCGCCATAACCAAGTA c.3300
A R Q | V L I A S H L P S Y E L R H N Q V p.1100
. . . . . . g.189987
GAGTCTATCTTCCTATCAGCTATTGACATGTATGGACATCAATTTTGCATTGAGAACCTG c.3360
E S I F L S A I D M Y G H Q F C I E N L p.1120
| 28 . . . . . . g.191437
CAG | AAACTCATCCTATCAGAAACATCTATTTTTGATGTCCTACCAAACTTCTTCTATCAC c.3420
Q | K L I L S E T S I F D V L P N F F Y H p.1140
. . . | 29 . . . g.193166
AGCAACCAAGTAGTGAGGATGGCAGCTCTGGAG | GTGTATGTTCGAAGGGCTTATATTGCC c.3480
S N Q V V R M A A L E | V Y V R R A Y I A p.1160
. . . . . . g.193226
TATGAACTTAACAGCGTACAACACCGCCAGCTTAAGGACAACACCTGTGTGGTGGAATTC c.3540
Y E L N S V Q H R Q L K D N T C V V E F p.1180
. . . | 30 . . | 31 . g.207192
CAGTTCATGCTGCCCACATCTCATCCAAACAG | AGGGAACATCCCTACGCTAAACAG | AATG c.3600
Q F M L P T S H P N R | G N I P T L N R | M p.1200
. . . . . . g.207252
TCCTTCTCCTCCAACCTCAACCACTATGGCATGACCCATGTAGCTAGTGTCAGCGATGTA c.3660
S F S S N L N H Y G M T H V A S V S D V p.1220
. . . . . . g.207312
CTGTTGGACAACTCATTCACTCCACCTTGTCAGCGGATGGGCGGAATGGTCTCTTTTCGG c.3720
L L D N S F T P P C Q R M G G M V S F R p.1240
. . | 32 . . . . g.208149
ACTTTTGAAGATTTTGTCAG | GATCTTTGATGAAGTGATGGGCTGCTTCTCTGACTCCCCA c.3780
T F E D F V R | I F D E V M G C F S D S P p.1260
. . . . . | 33. g.209119
CCCCAGAGTCCCACATTCCCTGAGGCAGGTCACACGTCTCTTTATGATGAGGATAAG | GTT c.3840
P Q S P T F P E A G H T S L Y D E D K | V p.1280
. . . . . . g.209179
CCCAGGGATGAACCAATTCACATTCTCAATGTGGCTATCAAGACTGACTGTGATATTGAG c.3900
P R D E P I H I L N V A I K T D C D I E p.1300
. . . . | 34 . . g.214491
GATGACAGGCTGGCAGCTATGTTCAGAGAATTTACCCAGCAAAAT | AAAGCTACCCTGGTT c.3960
D D R L A A M F R E F T Q Q N | K A T L V p.1320
. . . . | 35 . . g.214794
GACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAG | GATTTCAGAAAGCAGGTC c.4020
D H G I R R L T F L V A Q K | D F R K Q V p.1340
. . | 36. . . . g.221579
AACTATGAGGTGGATCGGAGATTTCAT | AGAGAATTCCCTAAATTTTTTACATTCCGAGCA c.4080
N Y E V D R R F H | R E F P K F F T F R A p.1360
| 37 . . . . . g.222707
AGGGATAAG | TTTGAGGAGGATCGTATCTATCGTCATCTGGAGCCTGCTCTGGCTTTCCAG c.4140
R D K | F E E D R I Y R H L E P A L A F Q p.1380
. . . . . . g.222767
TTAGAGCTGAACCGGATGAGAAATTTTGACCTCACTGCCATTCCATGTGCTAATCACAAG c.4200
L E L N R M R N F D L T A I P C A N H K p.1400
. . . . . . g.222827
ATGCACCTGTATCTCGGGGCAGCCAAGGTGGAAGTGGGCACAGAAGTGACAGACTACAGG c.4260
M H L Y L G A A K V E V G T E V T D Y R p.1420
. . . . | 38 . . g.223701
TTCTTTGTTCGTGCAATCATCAGGCATTCTGATCTGGTCACCAAG | GAAGCTTCTTTTGAA c.4320
F F V R A I I R H S D L V T K | E A S F E p.1440
. . . . . . g.223761
TATCTGCAAAATGAAGGGGAGCGGCTACTCCTGGAAGCCATGGATGAGTTGGAAGTTGCT c.4380
Y L Q N E G E R L L L E A M D E L E V A p.1460
. . . . . . g.223821
TTTAACAATACAAATGTCCGCACTGACTGTAACCACATCTTCCTCAACTTTGTGCCCACG c.4440
F N N T N V R T D C N H I F L N F V P T p.1480
. . | 39 . . . . g.226521
GTTATCATGGACCCATCAAAG | ATTGAGGAATCCGTGCGGAGCATGGTAATGCGGTATGGA c.4500
V I M D P S K | I E E S V R S M V M R Y G p.1500
. . . . . . g.226581
AGTCGCCTGTGGAAATTGCGCGTCCTCCAGGCAGAACTGAAAATCAACATTCGCCTGACG c.4560
S R L W K L R V L Q A E L K I N I R L T p.1520
. . . . . . g.226641
CCAACTGGAAAAGCAATTCCCATCCGCCTCTTCCTGACAAACGAGTCTGGCTATTACTTG c.4620
P T G K A I P I R L F L T N E S G Y Y L p.1540
. . . . | 40 . . g.233620
GATATCAGCCTATACAAGGAAGTGACTGACTCCAGGACAGCACAG | ATCATGTTTCAGGCA c.4680
D I S L Y K E V T D S R T A Q | I M F Q A p.1560
. . . . . . g.233680
TATGGAGACAAACAGGGACCACTGCATGGAATGTTAATCAATACTCCATATGTGACCAAA c.4740
Y G D K Q G P L H G M L I N T P Y V T K p.1580
. . . . . . g.233740
GACCTGCTGCAATCAAAGAGGTTCCAGGCACAATCCTTAGGGACAACATACATATATGAT c.4800
D L L Q S K R F Q A Q S L G T T Y I Y D p.1600
. . | 41 . . . . g.235594
ATCCCAGAGATGTTTCGGCAG | TCCCTGATCAAACTCTGGGAGTCTATGTCCACTCAAGCA c.4860
I P E M F R Q | S L I K L W E S M S T Q A p.1620
. . . . . . g.235654
TTTCTTCCATCTCCCCCTCTGCCTTCTGACATGCTGACTTACACTGAACTGGTACTGGAT c.4920
F L P S P P L P S D M L T Y T E L V L D p.1640
. . . . | 42 . g.252950
GATCAAGGTCAGCTGGTCCACATGAACAGGCTTCCAGGAGGAAATGAG | ATTGGCATGGTA c.4980
D Q G Q L V H M N R L P G G N E | I G M V p.1660
. . . . . . g.253010
GCTTGGAAAATGACCTTTAAAAGTCCTGAATATCCAGAAGGCCGAGATATCATTGTTATT c.5040
A W K M T F K S P E Y P E G R D I I V I p.1680
. . . . . . g.253070
GGCAATGACATCACATACCGAATTGGGTCCTTTGGGCCTCAAGAGGATTTGTTATTTCTC c.5100
G N D I T Y R I G S F G P Q E D L L F L p.1700
. . . . . . g.253130
AGAGCTTCCGAACTTGCTAGGGCAGAAGGTATTCCACGCATCTATGTATCAGCCAACAGT c.5160
R A S E L A R A E G I P R I Y V S A N S p.1720
. . . . . . g.253190
GGAGCAAGAATCGGACTGGCAGAAGAAATTCGCCATATGTTTCATGTGGCCTGGGTAGAT c.5220
G A R I G L A E E I R H M F H V A W V D p.1740
. | 43 . . . . g.259242
CCTGAGGATCCTTACAAG | GGATACAGGTATTTATATCTGACTCCTCAAGATTATAAGAGA c.5280
P E D P Y K | G Y R Y L Y L T P Q D Y K R p.1760
. . . . . | 44 . g.263560
GTCAGTGCTCTCAACTCTGTCCATTGTGAACACGTGGAAGATGAAGGAGAATCCAG | GTAC c.5340
V S A L N S V H C E H V E D E G E S R | Y p.1780
. . . . . . g.263620
AAGATAACAGATATTATTGGGAAAGAAGAGGGAATTGGACCCGAGAACCTTCGAGGTTCT c.5400
K I T D I I G K E E G I G P E N L R G S p.1800
. . . . . | 45. g.265007
GGAATGATTGCTGGAGAATCCTCATTGGCCTATAATGAGATCATTACCATCAGCCTG | GTG c.5460
G M I A G E S S L A Y N E I I T I S L | V p.1820
. . . . . . g.265067
ACGTGCCGGGCCATTGGGATTGGGGCTTACCTTGTCCGGCTGGGACAGAGAACCATCCAG c.5520
T C R A I G I G A Y L V R L G Q R T I Q p.1840
. . . . | 46 . g.284770
GTTGAGAATTCTCACTTAATTCTAACAGGAGCTGGAGCCCTCAACAAA | GTCCTCGGGCGG c.5580
V E N S H L I L T G A G A L N K | V L G R p.1860
. . . . . . g.284830
GAAGTGTACACCTCCAATAACCAGCTGGGGGGCATCCAGATTATGCACAACAATGGGGTG c.5640
E V Y T S N N Q L G G I Q I M H N N G V p.1880
. . . . . . g.284890
ACCCACTGCACTGTGTGTGATGACTTTGAAGGGGTTTTCACTGTCCTGCACTGGCTGTCT c.5700
T H C T V C D D F E G V F T V L H W L S p.1900
. | 47 . . . . . g.285539
TACATGCCCAAG | AGCGTGCACAGTTCAGTTCCTCTTCTGAACTCAAAGGATCCTATAGAC c.5760
Y M P K | S V H S S V P L L N S K D P I D p.1920
. . . . . . g.285599
AGAATCATCGAGTTTGTTCCCACAAAGACCCCATACGATCCTCGATGGATGCTAGCAGGC c.5820
R I I E F V P T K T P Y D P R W M L A G p.1940
. | 48 . . . . . g.289234
CGTCCTCACCCAA | CCCAAAAAGGTCAGTGGTTGAGTGGCTTTTTTGACTATGGATCTTTC c.5880
R P H P T | Q K G Q W L S G F F D Y G S F p.1960
. . . . . | 49 . g.292363
TCAGAGATTATGCAGCCCTGGGCACAGACTGTGGTGGTTGGTAGAGCCAG | GCTAGGAGGA c.5940
S E I M Q P W A Q T V V V G R A R | L G G p.1980
. . . . . . g.292423
ATACCTGTGGGAGTTGTTGCTGTAGAAACCCGAACAGTAGAACTAAGTATCCCAGCTGAT c.6000
I P V G V V A V E T R T V E L S I P A D p.2000
. . | 50. . . . g.293523
CCAGCAAACCTGGATTCTGAAGCCAAG | ATAATCCAGCAGGCTGGCCAGGTTTGGTTCCCA c.6060
P A N L D S E A K | I I Q Q A G Q V W F P p.2020
. . . . . . g.293583
GATTCTGCGTTTAAGACATATCAGGCCATCAAGGACTTCAACCGGGAAGGGCTGCCTCTG c.6120
D S A F K T Y Q A I K D F N R E G L P L p.2040
. . . . | 51 . . g.301719
ATGGTCTTTGCCAACTGGAGAGGCTTCTCTGGTGGAATGAAAG | ATATGTACGACCAAGTG c.6180
M V F A N W R G F S G G M K D | M Y D Q V p.2060
. . . . . . g.301779
CTGAAGTTTGGTGCTTACATTGTGGATGGCTTGAGGGAGTGCTGCCAGCCTGTGCTGGTT c.6240
L K F G A Y I V D G L R E C C Q P V L V p.2080
. . . . . . g.301839
TACATTCCTCCCCAGGCTGAGCTGCGGGGTGGCTCCTGGGTGGTGATTGACTCCTCCATC c.6300
Y I P P Q A E L R G G S W V V I D S S I p.2100
. . . . | 52 . . g.303343
AACCCCCGGCACATGGAGATGTATGCTGACCGAGAAAGCAG | GGGATCTGTTCTGGAGCCA c.6360
N P R H M E M Y A D R E S R | G S V L E P p.2120
. . . . . . g.303403
GAAGGGACAGTAGAAATCAAATTCCGCAGAAAGGATCTGGTGAAAACCATGCGTCGGGTG c.6420
E G T V E I K F R R K D L V K T M R R V p.2140
. . . | 53 . . . g.317009
GACCCAGTCTACATCCACTTGGCTGAGCGATTGG | GGACCCCAGAGCTAAGCACAGCTGAG c.6480
D P V Y I H L A E R L G | T P E L S T A E p.2160
. . . . . . g.317069
CGGAAGGAGTTGGAGAACAAGTTGAAGGAGCGGGAGGAATTCCTAATTCCCATTTACCAT c.6540
R K E L E N K L K E R E E F L I P I Y H p.2180
. . . . . . g.317129
CAGGTAGCCGTGCAGTTTGCTGACTTGCACGACACACCAGGCCGGATGCAGGAGAAGGGT c.6600
Q V A V Q F A D L H D T P G R M Q E K G p.2200
| 54 . . . . . g.317852
GTTATTAGC | GATATCCTGGATTGGAAAACATCCCGTACCTTCTTCTACTGGCGGCTGAGG c.6660
V I S | D I L D W K T S R T F F Y W R L R p.2220
. . . . . . g.317912
CGTCTTCTGCTGGAGGACCTGGTCAAGAAGAAAATCCACAATGCCAACCCTGAGCTGACT c.6720
R L L L E D L V K K K I H N A N P E L T p.2240
. . . . . . g.317972
GATGGCCAGATTCAAGCCATGTTAAGGCGCTGGTTTGTGGAAGTGGAAGGAACAGTGAAG c.6780
D G Q I Q A M L R R W F V E V E G T V K p.2260
| 55 . . . . . . g.325953
| GCTTATGTTTGGGACAATAATAAGGATCTGGCGGAGTGGCTAGAGAAACAGCTGACAGAG c.6840
| A Y V W D N N K D L A E W L E K Q L T E p.2280
. . . . . . g.326013
GAGGATGGTGTTCACTCGGTAATAGAGGAAAACATCAAATGCATCAGCAGAGACTACGTC c.6900
E D G V H S V I E E N I K C I S R D Y V p.2300
. | 56. . . . . g.327571
CTCAAGCAAATCCGCAG | CTTGGTCCAGGCCAATCCAGAGGTTGCCATGGATTCCATCATC c.6960
L K Q I R S | L V Q A N P E V A M D S I I p.2320
. . . . . . g.327631
CATATGACGCAGCACATATCACCCACTCAGCGAGCAGAAGTCATACGGATCCTCTCCACA c.7020
H M T Q H I S P T Q R A E V I R I L S T p.2340
. . g.327652
ATGGATTCCCCTTCCACGTAG c.7041
M D S P S T X p.2346
. . . . . . g.327712
gaagagcttcctgcctgtccctgccctgtctctggagaaaagggctagagctgcctttta c.*60
. . . . . . g.327772
caactgtaaccactgtaatgagaaggcacaggagacccagcactggagtcaaatggcatt c.*120
. . . . . . g.327832
ttacttcctctcgtttcaggttatgcatgacatcctgggatgtaagatcacagaatcccc c.*180
. . . . . . g.327892
ctccagcccaccagtcacacctaccccattcagtatttattaccctggccaggcctagtc c.*240
. . . . . . g.327952
ctccactccctgcacaggactgagaaggcaatgaaaggtacaaacatgtaccatgaggtc c.*300
. . . . . . g.328012
ttactaaccaaagtagggctgcccctcctgtcctgacagccccttggcctcccagcatgg c.*360
. . . . . . g.328072
ggaagcgtgaggagttgcccagcagtgagcagcccccctcactcctggccccatgagccg c.*420
. . . . . . g.328132
cagccacaggcagcagaggagggctaaggagaggaggaagcctcaagtccattgtttatt c.*480
. . . . . . g.328192
accccgactcttagcccagcacacagtaggcactggagaggaatgattcccagtttaacc c.*540
. . . . . . g.328252
acactacggtaccttttatgaagaaaaattagagcataaaatctactacaagctccatag c.*600
. . . . . . g.328312
gaactcaaagatgagggcaaaactgtgagccaagaagcagagaaagaaaatagaaccagt c.*660
. . . . . . g.328372
tattcttgatttaggggacctcaaccttgggttcagtctctgaggacaaagggaaaggta c.*720
. . . . . . g.328432
gttgttggcctgcctctcgcctgcacgtcactgctggactagctgtcgcatgtggctggg c.*780
. . . . . . g.328492
agctgcaaggccagtgcttgaggggccccagcagttccacaggtggtgaagcctgagttg c.*840
. . . . . . g.328552
gcagaggaggagccagaagagaactgccctttctgcactggtggaaactagttatttatg c.*900
. . . . . . g.328612
ccatgtggagagccagtgagatagatagatagtctgtttgttttgaggacttggaaagtt c.*960
. . . . . . g.328672
gttcctatgaagcctggagcttggatggttttgagaggttaatggtgcctccacactcac c.*1020
. . . . . . g.328732
tcttccctagttccaggattactgtcctagcagctaacggttctactctcttccccagag c.*1080
. . . . . . g.328792
tgtagacaggcagcaggtctccccacagctctgaaaggaccctggtgacagctacaccct c.*1140
. . . . . . g.328852
cagcaccaggagctggccttcctgatgagggaggcttccaggaaacacagaatccacatg c.*1200
. . . . . . g.328912
accttaagattatttacaactcagtcatggtgctgctgtcctccaggcttactggcccct c.*1260
. . . . . . g.328972
cctgactggcatcaggggcttcctcaggtggtggagagagtttactttcaacaactagtt c.*1320
. . . . . . g.329032
tattcaagaaaagaacttactgattcctctgttcctaaagcaagagtggcaggtgatcag c.*1380
. . . . . . g.329092
ggctggtgtagcatccggttcctttagtgcagctaactgcatttgtcactgatgaccaag c.*1440
. . . . . . g.329152
gaggaaatcactaagacatttgagaagcagtggtatgaacgttcttggacaagccacagt c.*1500
. . . . . . g.329212
tctgagccttaaccctgtagtttgcacacaagaacgagctccacctccccttcttcagga c.*1560
. . . . . . g.329272
ggaatctgtgcggatagattggctggacttttcaatggttctgggttgcaggtgggcact c.*1620
. . . . . . g.329332
gtatggctgggtatggagcggacagcccccaggagtcagagcctcagcccggctgccctg c.*1680
. . . . . . g.329392
gtggaaggtacaggtgttcagcaccttcagaaaagggcataaagtggtgggggacaattc c.*1740
. . . . . . g.329452
tcagtccaggaaaatgcattgaccattgctggctatttgcttacctagtaagaattggat c.*1800
. . . . . . g.329512
tcatttttgaccagattattcttctatgcttttttgcaataaatcaaatcccacatatct c.*1860
. . . . . . g.329572
acaagtggtatgaagtcctgcaccccccaggaggcctgtccaggcatgtcttcagaggca c.*1920
. . . . . . g.329632
gggtgggttacactcatttacctcccctctccccaccaaattatgacacaaacgagtatg c.*1980
. . . . . . g.329692
tttcctctctagaaccctgtaatgcctcctcccccatccccagagctccttactgtaggt c.*2040
. . . . . . g.329752
cttaccctggacaaggattttttcaagttggaggcacagaacatgagcaatctgacattc c.*2100
. . . . . . g.329812
ccacagcccctcaaacatgcaaggctactaaggcaggaggagtataaatgatggatattg c.*2160
. . . . . . g.329872
accaagacctgcttggacggagaccgccatattatctgttctcttcgttcacaaaacagc c.*2220
. . . . . . g.329932
cttcacttgtctcagaatttgatggacacatactgtgatgagcaggagcttcagatgcac c.*2280
. . . . g.329976
tctttacacattttgttgaaataaacctctacatttgtagaaga c.*2324
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 09
©2004-2014 Leiden University Medical Center