(used for variant description)
(last modified February 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_025114.3 in the CEP290 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008417.1, covering CEP290 transcript NM_025114.3.(upstream sequence) . . . . g.5044 atttgaagtcctcgttccacgccttctcatcatcctgaacaccg c.-301 . . . . . . g.5104 agctctgggactccggcggagaatctaaacgtaaagcatcacccacggtcgtgaactgta c.-241 . . . . . . g.5164 ggctctcctggcatccgggatcttattctggccttggcggagttggggatggtgtcgcct c.-181 . . . . . . g.5224 agcagccgctgccgctttggcttgctcgggaccatttggctggacccagagtccgcgtgg c.-121 . . . . . . g.5284 aaccgcgatagggatctgtcagggcccgcggccgggtccagcttggtggttgcggtagtg c.-61 . . . . | 02 . . g.5909 agaggcctccgctggttgccaggcttggtctag | aggtggagcacagtgaaagaattcaag c.-1 . . . . . . g.5969 ATGCCACCTAATATAAACTGGAAAGAAATAATGAAAGTTGACCCAGATGACCTGCCCCGT c.60 M P P N I N W K E I M K V D P D D L P R p.20 . . . . | 03 . . g.6201 CAAGAAGAACTGGCAGATAATTTATTGATTTCCTTATCCAAG | GTGGAAGTAAATGAGCTA c.120 Q E E L A D N L L I S L S K | V E V N E L p.40 . . . . . . g.6261 AAAAGTGAAAAGCAAGAAAATGTGATACACCTTTTCAGAATTACTCAGTCACTAATGAAG c.180 K S E K Q E N V I H L F R I T Q S L M K p.60 | 04 . . . . . . g.7712 | ATGAAAGCTCAAGAAGTGGAGCTGGCTTTGGAAGAAGTAGAAAAAGCTGGAGAAGAACAA c.240 | M K A Q E V E L A L E E V E K A G E E Q p.80 . | 05 . . . . | 06. g.10433 GCAAAATTTG | AAAATCAATTAAAAACTAAAGTAATGAAACTGGAAAATGAACTGGAG | ATG c.300 A K F E | N Q L K T K V M K L E N E L E | M p.100 . . . . . . g.10493 GCTCAGCAGTCTGCAGGTGGACGAGATACTCGGTTTTTACGTAATGAAATTTGCCAACTT c.360 A Q Q S A G G R D T R F L R N E I C Q L p.120 . . . . . . g.10553 GAAAAACAATTAGAACAAAAAGATAGAGAATTGGAGGACATGGAAAAGGAGTTGGAGAAA c.420 E K Q L E Q K D R E L E D M E K E L E K p.140 . . | 07 . . . . g.16037 GAGAAGAAAGTTAATGAGCAA | TTGGCTCTTCGAAATGAGGAGGCAGAAAATGAAAACAGC c.480 E K K V N E Q | L A L R N E E A E N E N S p.160 . | 08 . . | 09 . . . g.16820 AAATTAAGAAGAGAG | AACAAACGTCTAAAGAAAAAG | AATGAACAACTTTGTCAGGATATT c.540 K L R R E | N K R L K K K | N E Q L C Q D I p.180 . . . . . . g.16880 ATTGACTACCAGAAACAAATAGATTCACAGAAAGAAACACTTTTATCAAGAAGAGGGGAA c.600 I D Y Q K Q I D S Q K E T L L S R R G E p.200 . . . . . . g.16940 GACAGTGACTACCGATCACAGTTGTCTAAAAAAAACTATGAGCTTATCCAATATCTTGAT c.660 D S D Y R S Q L S K K N Y E L I Q Y L D p.220 | 10 . . . . . g.17391 GAAATTCAG | ACTTTAACAGAAGCTAATGAGAAAATTGAAGTTCAGAATCAAGAAATGAGA c.720 E I Q | T L T E A N E K I E V Q N Q E M R p.240 . . . . . . g.17451 AAAAATTTAGAAGAGTCTGTACAGGAAATGGAGAAGATGACTGATGAATATAATAGAATG c.780 K N L E E S V Q E M E K M T D E Y N R M p.260 . . . . . . g.17511 AAAGCTATTGTGCATCAGACAGATAATGTAATAGATCAGTTAAAAAAAGAAAACGATCAT c.840 K A I V H Q T D N V I D Q L K K E N D H p.280 . | 11 . . . . . g.18229 TATCAACTTCAA | GTGCAGGAGCTTACAGATCTTCTGAAATCAAAAAATGAAGAAGATGAT c.900 Y Q L Q | V Q E L T D L L K S K N E E D D p.300 . . . . | 12 . . g.20796 CCAATTATGGTAGCTGTCAATGCAAAAGTAGAAGAATGGAAG | CTAATTTTGTCTTCTAAA c.960 P I M V A V N A K V E E W K | L I L S S K p.320 . . . . . . g.20856 GATGATGAAATTATTGAGTATCAGCAAATGTTACATAACCTAAGGGAGAAACTTAAGAAT c.1020 D D E I I E Y Q Q M L H N L R E K L K N p.340 . . . . | 13 . . g.21862 GCTCAGCTTGATGCTGATAAAAGTAATGTTATGGCTCTACAGCAG | GGTATACAGGAACGA c.1080 A Q L D A D K S N V M A L Q Q | G I Q E R p.360 . . . . . . g.21922 GACAGTCAAATTAAGATGCTCACCGAACAAGTAGAACAATATACAAAAGAAATGGAAAAG c.1140 D S Q I K M L T E Q V E Q Y T K E M E K p.380 . . . . | 14 . g.26061 AATACTTGTATTATTGAAGATTTGAAAAATGAGCTCCAAAGAAACAAAG | GTGCTTCAACC c.1200 N T C I I E D L K N E L Q R N K G | A S T p.400 . . . . . . g.26121 CTTTCTCAACAGACTCATATGAAAATTCAGTCAACGTTAGACATTTTAAAAGAGAAAACT c.1260 L S Q Q T H M K I Q S T L D I L K E K T p.420 . . . . . . g.26181 AAAGAGGCTGAGAGAACAGCTGAACTGGCTGAGGCTGATGCTAGGGAAAAGGATAAAGAA c.1320 K E A E R T A E L A E A D A R E K D K E p.440 . . . | 15 . . g.26961 TTAGTTGAGGCTCTGAAGAGGTTAAAAGATTATGAATCG | GGAGTATATGGTTTAGAAGAT c.1380 L V E A L K R L K D Y E S | G V Y G L E D p.460 . . . . . . g.27021 GCTGTCGTTGAAATAAAGAATTGTAAAAACCAAATTAAAATAAGAGATCGAGAGATTGAA c.1440 A V V E I K N C K N Q I K I R D R E I E p.480 . . . . . . g.27081 ATATTAACAAAGGAAATCAATAAACTTGAATTGAAGATCAGTGATTTCCTTGATGAAAAT c.1500 I L T K E I N K L E L K I S D F L D E N p.500 . . | 16 . . . . g.28511 GAGGCACTTAGAGAGCGTGTGG | GCCTTGAACCAAAGACAATGATTGATTTAACTGAATTT c.1560 E A L R E R V G | L E P K T M I D L T E F p.520 . . . . . . g.28571 AGAAATAGCAAACACTTAAAACAGCAGCAGTACAGAGCTGAAAACCAGATTCTTTTGAAA c.1620 R N S K H L K Q Q Q Y R A E N Q I L L K p.540 | 17 . . . . . . g.28703 GAG | ATTGAAAGTCTAGAGGAAGAACGACTTGATCTGAAAAAAAAAATTCGTCAAATGGCT c.1680 E | I E S L E E E R L D L K K K I R Q M A p.560 . . . | 18 . . . g.30100 CAAGAAAGAGGAAAAAGAAGTGCAACTTCAG | GATTAACCACTGAGGACCTGAACCTAACT c.1740 Q E R G K R S A T S G | L T T E D L N L T p.580 . . . . . . g.30160 GAAAACATTTCTCAAGGAGATAGAATAAGTGAAAGAAAATTGGATTTATTGAGCCTCAAA c.1800 E N I S Q G D R I S E R K L D L L S L K p.600 . . | 19 . . . . g.32070 AATATGAGTGAAGCACAATCAAAG | AATGAATTTCTTTCAAGAGAACTAATTGAAAAAGAA c.1860 N M S E A Q S K | N E F L S R E L I E K E p.620 . . . . | 20 . g.32665 AGAGATTTAGAAAGGAGTAGGACAGTGATAGCCAAATTTCAGAATAAAT | TAAAAGAATTA c.1920 R D L E R S R T V I A K F Q N K L | K E L p.640 . . . . . . g.32725 GTTGAAGAAAATAAGCAACTTGAAGAAGGTATGAAAGAAATATTGCAAGCAATTAAGGAA c.1980 V E E N K Q L E E G M K E I L Q A I K E p.660 . . . . . . g.32785 ATGCAGAAAGATCCTGATGTTAAAGGAGGAGAAACATCTCTAATTATCCCTAGCCTTGAA c.2040 M Q K D P D V K G G E T S L I I P S L E p.680 . | 21 . . . . . g.35406 AGACTAGTTAAT | GCTATAGAATCAAAGAATGCAGAAGGAATCTTTGATGCGAGTCTGCAT c.2100 R L V N | A I E S K N A E G I F D A S L H p.700 . . . . . . g.35466 TTGAAAGCCCAAGTTGATCAGCTTACCGGAAGAAATGAAGAATTAAGACAGGAGCTCAGG c.2160 L K A Q V D Q L T G R N E E L R Q E L R p.720 . . . . . | 22. g.35868 GAATCTCGGAAAGAGGCTATAAATTATTCACAGCAGTTGGCAAAAGCTAATTTAAAG | ATA c.2220 E S R K E A I N Y S Q Q L A K A N L K | I p.740 . . . . . . g.35928 GACCATCTTGAAAAAGAAACTAGTCTTTTACGACAATCAGAAGGATCGAATGTTGTTTTT c.2280 D H L E K E T S L L R Q S E G S N V V F p.760 . . . . . . g.35988 AAAGGAATTGACTTACCTGATGGGATAGCACCATCTAGTGCCAGTATCATTAATTCTCAG c.2340 K G I D L P D G I A P S S A S I I N S Q p.780 . . | 23. . . . g.38068 AATGAATATTTAATACATTTGTTACAG | GAACTAGAAAATAAAGAAAAAAAGTTAAAGAAT c.2400 N E Y L I H L L Q | E L E N K E K K L K N p.800 . . . . . . g.38128 TTAGAAGATTCTCTTGAAGATTACAACAGAAAATTTGCTGTAATTCGTCATCAACAAAGT c.2460 L E D S L E D Y N R K F A V I R H Q Q S p.820 . . | 24 . . . . g.40155 TTGTTGTATAAAGAATACCTAAG | TGAAAAGGAGACCTGGAAAACAGAATCTAAAACAATA c.2520 L L Y K E Y L S | E K E T W K T E S K T I p.840 . . . . . . g.40215 AAAGAGGAAAAGAGAAAACTTGAGGATCAAGTCCAACAAGATGCTATAAAAGTAAAAGAA c.2580 K E E K R K L E D Q V Q Q D A I K V K E p.860 | 25 . . . . . . g.40365 TATAAT | AATTTGCTCAATGCTCTTCAGATGGATTCGGATGAAATGAAAAAAATACTTGCA c.2640 Y N | N L L N A L Q M D S D E M K K I L A p.880 . . . . . . g.40425 GAAAATAGTAGGAAAATTACTGTTTTGCAAGTGAATGAAAAATCACTTATAAGGCAATAT c.2700 E N S R K I T V L Q V N E K S L I R Q Y p.900 . . . . . . g.40485 ACAACCTTAGTAGAATTGGAGCGACAACTTAGAAAAGAAAATGAGAAGCAAAAGAATGAA c.2760 T T L V E L E R Q L R K E N E K Q K N E p.920 . . . . . | 26. g.44208 TTGTTGTCAATGGAGGCTGAAGTTTGTGAAAAAATTGGGTGTTTGCAAAGATTTAAG | GAA c.2820 L L S M E A E V C E K I G C L Q R F K | E p.940 . . . . . . g.44268 ATGGCCATTTTCAAGATTGCAGCTCTCCAAAAAGTTGTAGATAATAGTGTTTCTTTGTCT c.2880 M A I F K I A A L Q K V V D N S V S L S p.960 . . . . . . g.44328 GAACTAGAACTGGCTAATAAACAGTACAATGAACTGACTGCTAAGTACAGGGACATCTTG c.2940 E L E L A N K Q Y N E L T A K Y R D I L p.980 . . . . . | 27 . g.50226 CAAAAAGATAATATGCTTGTTCAAAGAACAAGTAACTTGGAACACCTGGAG | TGTGAAAAC c.3000 Q K D N M L V Q R T S N L E H L E | C E N p.1000 . . . . . . g.50286 ATCTCCTTAAAAGAACAAGTGGAGTCTATAAATAAAGAACTGGAGATTACCAAGGAAAAA c.3060 I S L K E Q V E S I N K E L E I T K E K p.1020 . . . . | 28 . . g.53258 CTTCACACTATTGAACAAGCCTGGGAACAGGAAACTAAATTAG | GTAATGAATCTAGCATG c.3120 L H T I E Q A W E Q E T K L G | N E S S M p.1040 . . . . . . g.53318 GATAAGGCAAAGAAATCAATAACCAACAGTGACATTGTTTCCATTTCAAAAAAAATAACT c.3180 D K A K K S I T N S D I V S I S K K I T p.1060 . . . . . . g.53378 ATGCTGGAAATGAAGGAATTAAATGAAAGGCAGCGGGCTGAACATTGTCAAAAAATGTAT c.3240 M L E M K E L N E R Q R A E H C Q K M Y p.1080 . . . . . . g.53438 GAACACTTACGGACTTCGTTAAAGCAAATGGAGGAACGTAATTTTGAATTGGAAACCAAA c.3300 E H L R T S L K Q M E E R N F E L E T K p.1100 | 29 . . . . . g.54435 TTTGCTGAG | CTTACCAAAATCAATTTGGATGCACAGAAGGTGGAACAGATGTTAAGAGAT c.3360 F A E | L T K I N L D A Q K V E Q M L R D p.1120 . . . . . . g.54495 GAATTAGCTGATAGTGTGAGCAAGGCAGTAAGTGATGCTGATAGGCAACGGATTCTAGAA c.3420 E L A D S V S K A V S D A D R Q R I L E p.1140 . . . . | 30 . . g.56396 TTAGAGAAGAATGAAATGGAACTAAAAGTTGAAGTGTCAAA | ACTGAGAGAGATTTCTGAT c.3480 L E K N E M E L K V E V S K | L R E I S D p.1160 . . . . . . g.56456 ATTGCCAGAAGACAAGTTGAAATTTTGAATGCACAACAACAATCTAGGGACAAGGAAGTA c.3540 I A R R Q V E I L N A Q Q Q S R D K E V p.1180 . . . | 31 . . . g.57756 GAGTCCCTCAGAATGCAACTGCTAGACTATCAG | GCACAGTCTGATGAAAAGTCGCTCATT c.3600 E S L R M Q L L D Y Q | A Q S D E K S L I p.1200 . . . . . . g.57816 GCCAAGTTGCACCAACATAATGTCTCTCTTCAACTGAGTGAGGCTACTGCTCTTGGTAAG c.3660 A K L H Q H N V S L Q L S E A T A L G K p.1220 . . . . . . g.57876 TTGGAGTCAATTACATCTAAACTGCAGAAGATGGAGGCCTACAACTTGCGCTTAGAGCAG c.3720 L E S I T S K L Q K M E A Y N L R L E Q p.1240 . . . . . . g.57936 AAACTTGATGAAAAAGAACAGGCTCTCTATTATGCTCGTTTGGAGGGAAGAAACAGAGCA c.3780 K L D E K E Q A L Y Y A R L E G R N R A p.1260 . . . . . . g.57996 AAACATCTGCGCCAAACAATTCAGTCTCTACGACGACAGTTTAGTGGAGCTTTACCCTTG c.3840 K H L R Q T I Q S L R R Q F S G A L P L p.1280 . . . . . . g.58056 GCACAACAGGAAAAGTTCTCCAAAACAATGATTCAACTACAAAATGACAAACTTAAGATA c.3900 A Q Q E K F S K T M I Q L Q N D K L K I p.1300 . . . . . . g.58116 ATGCAAGAAATGAAAAATTCTCAACAAGAACATAGAAATATGGAGAACAAAACATTGGAG c.3960 M Q E M K N S Q Q E H R N M E N K T L E p.1320 . . . . . . g.58176 ATGGAATTAAAATTAAAGGGCCTGGAAGAGTTAATAAGCACTTTAAAGGATACCAAAGGA c.4020 M E L K L K G L E E L I S T L K D T K G p.1340 | 32 . . . . . g.59323 GCCCAAAAG | GTAATCAACTGGCATATGAAAATAGAAGAACTTCGTCTTCAAGAACTTAAA c.4080 A Q K | V I N W H M K I E E L R L Q E L K p.1360 . . . . . . g.59383 CTAAATCGGGAATTAGTCAAGGATAAAGAAGAAATAAAATATTTGAATAACATAATTTCT c.4140 L N R E L V K D K E E I K Y L N N I I S p.1380 . . . . . | 33 . g.60724 GAATATGAACGTACAATCAGCAGTCTTGAAGAAGAAATTGTGCAACAGAACAAG | TTTCAT c.4200 E Y E R T I S S L E E E I V Q Q N K | F H p.1400 . . . . . . g.60784 GAAGAAAGACAAATGGCCTGGGATCAAAGAGAAGTTGACCTGGAACGCCAACTAGACATT c.4260 E E R Q M A W D Q R E V D L E R Q L D I p.1420 . . . . | 34 . . g.61061 TTTGACCGTCAGCAAAATGAAATACTAAATGCGGCACAAAAG | TTTGAAGAAGCTACAGGA c.4320 F D R Q Q N E I L N A A Q K | F E E A T G p.1440 . . . . . . g.61121 TCAATCCCTGACCCTAGTTTGCCCCTTCCAAATCAACTTGAGATCGCTCTAAGGAAAATT c.4380 S I P D P S L P L P N Q L E I A L R K I p.1460 . . . . . | 35. g.62367 AAGGAGAACATTCGAATAATTCTAGAAACACGGGCAACTTGCAAATCACTAGAAGAG | AAA c.4440 K E N I R I I L E T R A T C K S L E E | K p.1480 . . . . . . g.62427 CTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAA c.4500 L K E K E S A L R L A E Q N I L S R D K p.1500 . . . . . . g.62487 GTAATCAATGAACTGAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCT c.4560 V I N E L R L R L P A T A E R E K L I A p.1520 . . . . . . g.62547 GAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCAA c.4620 E L G R K E M E P K S H H T L K I A H Q p.1540 . . . . . . g.62607 ACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAA c.4680 T I A N M Q A R L N Q K E E V L K K Y Q p.1560 . . | 36 . . . . g.63298 CGTCTTCTAGAAAAAGCCAGAGAG | GAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGAC c.4740 R L L E K A R E | E Q R E I V K K H E E D p.1580 . . . . . . g.63358 CTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAAA c.4800 L H I L H H R L E L Q A D S S L N K F K p.1600 . | 37 . . . . . g.64034 CAAACGGCTTGG | GATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTT c.4860 Q T A W | D L M K Q S P T P V P T N K H F p.1620 . . . . . . g.64094 ATTCGTCTGGCTGAGATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTC c.4920 I R L A E M E Q T V A E Q D D S L S S L p.1640 . . . . . . g.64154 TTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATTA c.4980 L V K L K K V S Q D L E R Q R E I T E L p.1660 . . . | 38 . . . g.66849 AAAGTAAAAGAATTTGAAAATATCAAATTACA | GCTTCAAGAAAACCATGAAGATGAAGTG c.5040 K V K E F E N I K L Q | L Q E N H E D E V p.1680 . . . . . . g.66909 AAAAAAGTAAAAGCGGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAG c.5100 K K V K A E V E D L K Y L L D Q S Q K E p.1700 . . . . . . g.66969 TCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAACA c.5160 S Q C L K S E L Q A Q K E A N S R A P T p.1720 . . . . . . g.67029 ACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAA c.5220 T T M R N L V E R L K S Q L A L K E K Q p.1740 | 39 . . . . . . g.68041 CAGAAA | GCACTTAGTCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAA c.5280 Q K | A L S R A L L E L R A E M T A A A E p.1760 . . . . . . g.68101 GAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGTT c.5340 E R I I S A T S Q K E A H L N V Q Q I V p.1780 . . | 40 . . . . g.69334 GATCGACATACTAGAGAGCTAAAG | ACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAA c.5400 D R H T R E L K | T Q V E D L N E N L L K p.1800 . . . . . . g.69394 TTGAAAGAAGCACTTAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAAT c.5460 L K E A L K T S K N R E N S L T D N L N p.1820 . . . . . . g.69454 GACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAAA c.5520 D L N N E L Q K K Q K A Y N K I L R E K p.1840 . . . . . . g.69514 GAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGA c.5580 E E I D Q E N D E L K R Q I K R L T S G p.1860 | 41 . . . . . . g.69926 TTACAG | GGCAAACCCCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAA c.5640 L Q | G K P L T D N K Q S L I E E L Q R K p.1880 . . . . . . g.69986 GTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTATG c.5700 V K K L E N Q L E G K V E E V D L K P M p.1900 | 42 . . . . . g.75341 AAAGAAAAG | AATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCC c.5760 K E K | N A K E E L I R W E E G K K W Q A p.1920 . . . . . . g.75401 AAAATAGAAGGAATTCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACA c.5820 K I E G I R N K L K E K E G E V F T L T p.1940 . . . | 43 . . . g.75792 AAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAA | AGCCGATAAAGAGAAACTTACTTTG c.5880 K Q L N T L K D L F A K | A D K E K L T L p.1960 . . . . . . g.75852 CAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTG c.5940 Q R K L K T T G M T V D Q V L G I R A L p.1980 . . . . . . g.75912 GAGTCAGAAAAAGAATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATA c.6000 E S E K E L E E L K K R N L D L E N D I p.2000 . | 44 . . . . . g.78620 TTGTATATGAG | GGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTTA c.6060 L Y M R | A H Q A L P R D S V V E D L H L p.2020 . . . . . . g.78680 CAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACA c.6120 Q N R Y L Q E K L H A L E K Q F S K D T p.2040 . | 45 . . . . . g.83146 TATTCTAAGCCTTCA | ATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAG c.6180 Y S K P S | I S G I E S D D H C Q R E Q E p.2060 . . . . . . g.83206 CTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGAA c.6240 L Q K E N L K L S S E N I E L K F Q L E p.2080 . . . | 46 . . . g.84468 CAAGCAAATAAAGATTTGCCAAGATTAAAG | AATCAAGTCAGAGATTTGAAGGAAATGTGT c.6300 Q A N K D L P R L K | N Q V R D L K E M C p.2100 . . . . . | 47. g.86225 GAATTTCTTAAGAAAGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGG | TCT c.6360 E F L K K E K A E V Q R K L G H V R G | S p.2120 . . . . . . g.86285 GGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGTA c.6420 G R S G K T I P E L E K T I G L M K K V p.2140 . . . . . . g.86345 GTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGT c.6480 V E K V Q R E N E Q L K K A S G I L T S p.2160 . . . . | 48 . . g.87214 GAAAAAATGGCTAATATTGAGCAGGAAAATGAAAAATTGAAG | GCTGAATTAGAAAAACTT c.6540 E K M A N I E Q E N E K L K | A E L E K L p.2180 . . . . . . g.87274 AAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGAA c.6600 K A H L G H Q L S M H Y E S K T K G T E p.2200 . . . . | 49 . . g.88211 AAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAA | GAAACTGATGCTGCA c.6660 K I I A E N E R L R K E L K K | E T D A A p.2220 . . . . . . g.88271 GAGAAATTACGGATAGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAA c.6720 E K L R I A K N N L E I L N E K M T V Q p.2240 . . . . . . g.88331 CTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGGT c.6780 L E E T G K R L Q F A E S R G P Q L E G p.2260 . . . | 50 . . g.91521 GCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAG | AATGTATGAAACCAAGTTAAAA c.6840 A D S K S W K S I V V T R | M Y E T K L K p.2280 . . . . . . g.91581 GAATTGGAAACTGATATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTA c.6900 E L E T D I A K K N Q S I T D L K Q L V p.2300 . . . . . . g.91641 AAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACAG c.6960 K E A T E R E Q K V N K Y N E D L E Q Q p.2320 | 51 . . . . . . g.92863 | ATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAG c.7020 | I K I L K H V P E G A E T E Q G L K R E p.2340 . | 52 . . . . . g.93516 CTTCAAGTTCTTAG | ATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCAT c.7080 L Q V L R | L A N H Q L D K E K A E L I H p.2360 . . . . | 53 . g.96794 CAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTG | ATGCTGATCAA c.7140 Q I E A N K D Q S G A E S T I P D | A D Q p.2380 . . . . . . g.96854 CTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAG c.7200 L K E K I K D L E T Q L K M S D L E K Q p.2400 | 54 . . . . . g.97853 CATTTGAAG | GAGGAAATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTT c.7260 H L K | E E I K K L K K E L E N F D P S F p.2420 . . . . . . g.97913 TTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCTC c.7320 F E E I E D L K Y N Y K E E V K K N I L p.2440 . . . . . . g.97973 TTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTT c.7380 L E E K V K K L S E Q L G V E L T S P V p.2460 . . . . . . g.98033 GCTGCTTCTGAAGAGTTTGAAGATGAAGAAGAAAGTCCTGTTAATTTCCCCATTTACTAA c.7440 A A S E E F E D E E E S P V N F P I Y X p.2479 . . . . . . g.98093 aggtcacctataaactttgtttcatttaactatttattaactttataagttaaatatact c.*60 . . . . . . g.98153 tggaaataagcagttctccgaactgtagtatttccttctcactaccttgtacctttatac c.*120 . . . . . g.98204 ttagattggaattcttaataaataaaattatatgaaattttcaacttatta c.*171 (downstream sequence)Legend:
Powered by LOVD v.3.0 Build 12
©2004-2015 Leiden University Medical Center