(used for variant description)
(last modified June 28, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_006445.3 in the PRPF8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009118.1, covering PRPF8 transcript NM_006445.3.(upstream sequence) . . . . . g.5054 gaactcgggttgcgcacttcccggcgctgggaacgcggagcggacgcagtctgg c.-61 . . . . . | 02 g.5311 ccgccattgcgctgcggggaaagcggcctcttgtgtgagggcctgtggg | attctccggat c.-1 . . . . . . g.5371 ATGGCCGGAGTGTTTCCTTATCGAGGGCCGGGTAACCCGGTGCCTGGCCCTCTAGCCCCG c.60 M A G V F P Y R G P G N P V P G P L A P p.20 . . . . | 03 . . g.6201 CTACCGGACTACATGTCGGAGGAGAAGCTGCAGGAGAAAG | CTCGAAAATGGCAGCAATTG c.120 L P D Y M S E E K L Q E K A | R K W Q Q L p.40 . . . . . . g.6261 CAGGCCAAGCGCTATGCAGAAAAGCGGAAGTTTGGGTTTGTGGATGCCCAGAAGGAAGAC c.180 Q A K R Y A E K R K F G F V D A Q K E D p.60 . . . . . . g.6321 ATGCCCCCAGAACATGTCAGGAAGATCATTCGAGACCATGGAGACATGACCAACAGGAAG c.240 M P P E H V R K I I R D H G D M T N R K p.80 . . | 04 . . . g.7620 TTCCGCCATGACAAAAGGGTTTACTTGGG | TGCCCTAAAGTACATGCCCCACGCAGTCCTC c.300 F R H D K R V Y L G | A L K Y M P H A V L p.100 . . . . . . g.7680 AAACTCCTGGAGAACATGCCTATGCCTTGGGAGCAGATTCGGGATGTGCCTGTGCTGTAC c.360 K L L E N M P M P W E Q I R D V P V L Y p.120 . . . . . . g.7740 CACATCACTGGAGCCATTTCCTTCGTCAATGAGATTCCCTGGGTCATTGAACCTGTCTAC c.420 H I T G A I S F V N E I P W V I E P V Y p.140 . | 05 . . . . . g.7890 ATCTCCCAGTGGGG | GTCAATGTGGATTATGATGCGCCGAGAAAAAAGAGATAGGAGGCAT c.480 I S Q W G | S M W I M M R R E K R D R R H p.160 . . . . . . g.7950 TTCAAGAGGATGCGTTTTCCCCCTTTTGATGATGAGGAGCCGCCCTTGGACTATGCTGAC c.540 F K R M R F P P F D D E E P P L D Y A D p.180 . . . . . . g.8010 AACATCCTAGATGTTGAGCCACTGGAGGCCATTCAGCTAGAGCTGGACCCTGAGGAGGAC c.600 N I L D V E P L E A I Q L E L D P E E D p.200 . . . . . | 06 . g.8199 GCCCCTGTGTTGGACTGGTTCTATGACCACCAGCCGTTGAGGGACAGCAGGAA | GTATGTA c.660 A P V L D W F Y D H Q P L R D S R K | Y V p.220 . . . . . . g.8259 AATGGCTCCACTTACCAGCGCTGGCAGTTCACACTACCTATGATGTCGACTCTCTACCGC c.720 N G S T Y Q R W Q F T L P M M S T L Y R p.240 . . . . . . g.8319 CTGGCTAATCAGCTCCTGACAGACTTGGTGGATGACAACTACTTCTACCTGTTTGATTTG c.780 L A N Q L L T D L V D D N Y F Y L F D L p.260 . . . . . . g.8379 AAGGCCTTCTTTACGTCCAAGGCACTCAATATGGCCATTCCTGGAGGCCCCAAATTTGAA c.840 K A F F T S K A L N M A I P G G P K F E p.280 . . | 07 . . . . g.8862 CCTCTTGTTCGAGACATCAACCTACA | GGATGAAGACTGGAATGAATTCAATGATATTAAC c.900 P L V R D I N L Q | D E D W N E F N D I N p.300 . . . . . . g.8922 AAGATTATCATCCGGCAGCCTATCCGCACTGAGTACAAGATTGCTTTTCCTTACTTGTAC c.960 K I I I R Q P I R T E Y K I A F P Y L Y p.320 . . . | 08 . . . g.9079 AACAATCTTCCACACCATGTCCACCTCACCTG | GTACCATACTCCCAATGTTGTATTCATC c.1020 N N L P H H V H L T W | Y H T P N V V F I p.340 . . . . . . g.9139 AAAACTGAGGATCCTGACTTGCCAGCTTTCTACTTTGACCCTTTGATCAACCCAATCTCC c.1080 K T E D P D L P A F Y F D P L I N P I S p.360 . | 09 . . . . g.10125 CATAGGCACTCAGTCAAG | AGCCAGGAACCATTGCCGGATGATGATGAGGAATTTGAGCTC c.1140 H R H S V K | S Q E P L P D D D E E F E L p.380 . . . . . . g.10185 CCGGAGTTTGTGGAGCCCTTCCTGAAGGACACACCCCTCTATACAGACAATACAGCCAAT c.1200 P E F V E P F L K D T P L Y T D N T A N p.400 . . . . . . g.10245 GGCATTGCCCTGCTCTGGGCCCCGCGGCCCTTCAACCTACGCTCTGGTCGCACCCGTCGG c.1260 G I A L L W A P R P F N L R S G R T R R p.420 . . | 10 . . . g.10503 GCCCTGGACATACCCCTTGTCAAGAACTG | GTATCGGGAGCATTGTCCTGCCGGGCAGCCT c.1320 A L D I P L V K N W | Y R E H C P A G Q P p.440 . . . . . . g.10563 GTGAAAGTGAGGGTCTCCTACCAGAAGCTGCTTAAGTACTATGTGCTGAATGCCCTGAAG c.1380 V K V R V S Y Q K L L K Y Y V L N A L K p.460 . . | 11 . . . g.10707 CATCGGCCCCCTAAGGCTCAAAAGAAGAG | GTATTTGTTCCGCTCCTTCAAAGCCACCAAA c.1440 H R P P K A Q K K R | Y L F R S F K A T K p.480 . . . . . . g.10767 TTCTTTCAGTCCACAAAGCTGGACTGGGTGGAGGTTGGGCTCCAGGTTTGCCGCCAGGGC c.1500 F F Q S T K L D W V E V G L Q V C R Q G p.500 . . . . . . g.10827 TACAACATGCTCAACCTTCTCATTCACCGCAAAAACCTCAACTACCTGCACCTGGACTAC c.1560 Y N M L N L L I H R K N L N Y L H L D Y p.520 . . . | 12 . . g.11022 AACTTCAACCTCAAGCCTGTGAAAACGCTCACCACCAAG | GAAAGAAAGAAATCTCGTTTT c.1620 N F N L K P V K T L T T K | E R K K S R F p.540 . . . . . . g.11082 GGGAATGCTTTCCACCTGTGTCGGGAAGTTCTGCGTTTGACTAAGCTGGTGGTGGATAGT c.1680 G N A F H L C R E V L R L T K L V V D S p.560 . . . | 13 . . g.11251 CACGTGCAGTATCGGCTGGGCAATGTGGATGCCTTCCAG | CTGGCAGATGGATTGCAGTAT c.1740 H V Q Y R L G N V D A F Q | L A D G L Q Y p.580 . . . . . . g.11311 ATATTTGCCCATGTTGGGCAGTTGACGGGCATGTATCGATACAAATACAAGCTGATGCGA c.1800 I F A H V G Q L T G M Y R Y K Y K L M R p.600 . . . . . | 14 . g.12194 CAGATTCGCATGTGCAAGGACCTGAAGCATCTCATCTATTATCGTTTCAACACG | GGCCCT c.1860 Q I R M C K D L K H L I Y Y R F N T | G P p.620 . . . . . . g.12254 GTAGGGAAGGGTCCTGGCTGTGGCTTCTGGGCTGCCGGTTGGCGAGTCTGGCTCTTTTTC c.1920 V G K G P G C G F W A A G W R V W L F F p.640 . . . . . . g.12314 ATGCGTGGCATTACCCCTTTATTAGAGCGATGGCTTGGCAACCTCCTGGCCCGGCAGTTT c.1980 M R G I T P L L E R W L G N L L A R Q F p.660 | 15 . . . . . . g.12766 GAAG | GTCGACACTCAAAGGGGGTGGCAAAGACAGTAACAAAGCAGCGAGTGGAGTCACAT c.2040 E G | R H S K G V A K T V T K Q R V E S H p.680 . . . . . . g.12826 TTTGACCTTGAGCTGCGGGCAGCTGTGATGCATGATATTCTGGACATGATGCCTGAGGGG c.2100 F D L E L R A A V M H D I L D M M P E G p.700 . . . . . . g.12886 ATCAAGCAGAACAAGGCCCGGACAATCCTGCAGCACCTCAGTGAAGCCTGGCGCTGCTGG c.2160 I K Q N K A R T I L Q H L S E A W R C W p.720 . . | 16 . . . . g.13210 AAAGCCAACATTCCCTGGAAG | GTCCCTGGGCTGCCGACGCCCATAGAGAATATGATCCTT c.2220 K A N I P W K | V P G L P T P I E N M I L p.740 . . . . . . g.13270 CGATACGTGAAGGCCAAGGCTGACTGGTGGACCAACACTGCCCACTACAACCGAGAACGG c.2280 R Y V K A K A D W W T N T A H Y N R E R p.760 . . . . . . g.13330 ATCCGCCGAGGGGCCACTGTGGACAAGACTGTTTGTAAAAAGAATCTGGGCCGCCTCACC c.2340 I R R G A T V D K T V C K K N L G R L T p.780 . . . . | 17 . g.13524 CGGCTCTATCTGAAGGCAGAACAGGAGCGGCAGCACAACTACCTGAAG | GACGGGCCTTAC c.2400 R L Y L K A E Q E R Q H N Y L K | D G P Y p.800 . . . . . . g.13584 ATCACAGCGGAGGAAGCAGTGGCAGTATATACCACCACAGTGCATTGGTTGGAAAGCCGC c.2460 I T A E E A V A V Y T T T V H W L E S R p.820 . . . . . . g.13644 AGGTTTTCACCCATCCCATTCCCCCCACTCTCCTATAAGCATGACACCAAGTTGCTCATC c.2520 R F S P I P F P P L S Y K H D T K L L I p.840 . . . | 18 . . . g.13856 TTGGCATTGGAGCGGCTCAAGGAAGCTTATAG | TGTGAAGTCTCGGTTGAACCAGTCTCAG c.2580 L A L E R L K E A Y S | V K S R L N Q S Q p.860 . . . . . . g.13916 AGGGAGGAGCTAGGTCTGATCGAGCAGGCCTACGATAACCCCCACGAGGCGCTGTCCCGC c.2640 R E E L G L I E Q A Y D N P H E A L S R p.880 . . . | 19 . . g.14091 ATCAAGCGTCACCTCCTCACACAGAGAGCCTTCAAAGAG | GTGGGCATTGAGTTCATGGAT c.2700 I K R H L L T Q R A F K E | V G I E F M D p.900 . . . . . . g.14151 CTGTATAGCCACCTCGTTCCAGTATATGATGTTGAGCCCCTGGAGAAGATAACTGATGCT c.2760 L Y S H L V P V Y D V E P L E K I T D A p.920 . . . . . . g.14211 TACCTGGACCAGTACCTGTGGTATGAAGCCGACAAGCGCCGCCTGTTCCCACCCTGGATT c.2820 Y L D Q Y L W Y E A D K R R L F P P W I p.940 . . . . . | 20 . g.14551 AAGCCTGCAGACACAGAACCACCTCCGCTGCTTGTTTACAAGTGGTGTCAAG | GCATCAAT c.2880 K P A D T E P P P L L V Y K W C Q G | I N p.960 . . . . . . g.14611 AACCTGCAGGACGTGTGGGAGACGAGTGAAGGCGAGTGCAATGTCATGCTGGAATCCCGC c.2940 N L Q D V W E T S E G E C N V M L E S R p.980 . . . . . . g.14671 TTTGAGAAGATGTATGAGAAGATCGACTTGACTCTGCTCAACAGGCTGCTGCGCCTCATC c.3000 F E K M Y E K I D L T L L N R L L R L I p.1000 . . . . . . g.14731 GTGGACCACAACATAGCCGACTACATGACAGCCAAGAACAACGTCGTCATCAACTATAAG c.3060 V D H N I A D Y M T A K N N V V I N Y K p.1020 | 21 . . . . . . g.15262 | GACATGAACCATACGAATTCATATGGGATCATCAGAGGCCTGCAGTTTGCCTCATTCATC c.3120 | D M N H T N S Y G I I R G L Q F A S F I p.1040 . . . . . . g.15322 GTGCAGTATTATGGCCTGGTGATGGATTTGCTTGTATTGGGATTGCACCGGGCCAGTGAG c.3180 V Q Y Y G L V M D L L V L G L H R A S E p.1060 . . . . . . g.15382 ATGGCTGGGCCCCCTCAGATGCCAAATGACTTTCTCAGTTTCCAGGACATAGCCACTGAG c.3240 M A G P P Q M P N D F L S F Q D I A T E p.1080 . . . . . | 22 g.15991 GCTGCCCACCCCATCCGTCTCTTCTGCAGATACATTGATCGCATCCATATTTTTTTCAG | G c.3300 A A H P I R L F C R Y I D R I H I F F R | p.1100 . . . . . . g.16051 TTCACAGCAGATGAGGCTCGGGACCTGATTCAACGTTACCTGACAGAGCACCCTGACCCC c.3360 F T A D E A R D L I Q R Y L T E H P D P p.1120 . . . . . . g.16111 AATAATGAAAACATCGTTGGCTATAATAACAAGAAGTGCTGGCCCCGAGATGCCCGCATG c.3420 N N E N I V G Y N N K K C W P R D A R M p.1140 . . | 23 . . . . g.16349 CGCCTCATGAAACATGATGTTAACTT | AGGCCGGGCGGTATTCTGGGACATCAAGAACCGC c.3480 R L M K H D V N L | G R A V F W D I K N R p.1160 . . . . . . g.16409 TTGCCACGGTCAGTGACTACAGTTCAGTGGGAGAACAGCTTCGTGTCTGTGTACAGTAAG c.3540 L P R S V T T V Q W E N S F V S V Y S K p.1180 . . . . . . g.16469 GACAACCCCAACCTGCTGTTCAACATGTGTGGCTTCGAGTGCCGCATCCTGCCTAAGTGC c.3600 D N P N L L F N M C G F E C R I L P K C p.1200 . . . . . | 24. g.16688 CGCACCAGCTATGAGGAGTTCACCCACAAGGACGGGGTCTGGAACCTGCAGAATGAG | GTT c.3660 R T S Y E E F T H K D G V W N L Q N E | V p.1220 . . . . . . g.16748 ACTAAGGAGCGCACAGCTCAGTGTTTCCTGCGTGTGGACGATGAGTCAATGCAGCGCTTC c.3720 T K E R T A Q C F L R V D D E S M Q R F p.1240 . . . . . | 25 . g.27735 CACAACCGCGTGCGTCAGATTCTCATGGCCTCTGGGTCCACCACCTTCACCAAG | ATTGTG c.3780 H N R V R Q I L M A S G S T T F T K | I V p.1260 . . . . . . g.27795 AATAAGTGGAATACAGCTCTCATTGGCCTTATGACATACTTTCGGGAGGCTGTGGTGAAC c.3840 N K W N T A L I G L M T Y F R E A V V N p.1280 . . . . . . g.27855 ACCCAAGAGCTCTTGGACTTACTGGTGAAGTGTGAGAACAAAATCCAGACACGTATCAAG c.3900 T Q E L L D L L V K C E N K I Q T R I K p.1300 . . . . . . g.27915 ATTGGACTCAACTCCAAGATGCCAAGTCGGTTCCCCCCGGTTGTGTTCTACACCCCTAAG c.3960 I G L N S K M P S R F P P V V F Y T P K p.1320 . . . . . . g.27975 GAGTTGGGTGGACTCGGCATGCTCTCAATGGGCCATGTGCTCATCCCCCAATCCGACCTC c.4020 E L G G L G M L S M G H V L I P Q S D L p.1340 | 26 . . . . . . g.28150 AG | GTGGTCCAAACAGACAGATGTAGGTATCACACACTTTCGTTCAGGAATGAGCCATGAA c.4080 R | W S K Q T D V G I T H F R S G M S H E p.1360 . . . . . . g.28210 GAAGACCAGCTCATTCCCAACTTGTACCGCTACATACAGCCATGGGAGAGCGAGTTCATT c.4140 E D Q L I P N L Y R Y I Q P W E S E F I p.1380 . . . . . . g.28270 GATTCTCAGCGGGTCTGGGCTGAGTACGCACTCAAGAGGCAAGAGGCCATTGCTCAGAAC c.4200 D S Q R V W A E Y A L K R Q E A I A Q N p.1400 | 27 . . . . . . g.28534 AG | ACGCCTGACTTTAGAAGACCTAGAAGATTCATGGGATCGTGGCATTCCTCGAATCAAT c.4260 R | R L T L E D L E D S W D R G I P R I N p.1420 . . . . . . g.28594 ACCCTCTTCCAGAAGGACCGGCACACACTGGCTTATGATAAGGGCTGGCGTGTCAGAACT c.4320 T L F Q K D R H T L A Y D K G W R V R T p.1440 . | 28 . . . . g.28762 GACTTTAAGCAGTATCAG | GTTTTGAAGCAGAATCCGTTCTGGTGGACACACCAGCGGCAT c.4380 D F K Q Y Q | V L K Q N P F W W T H Q R H p.1460 . . . . . . g.28822 GATGGGAAGCTCTGGAACCTGAACAACTACCGTACAGACATGATCCAGGCCCTGGGCGGT c.4440 D G K L W N L N N Y R T D M I Q A L G G p.1480 . . . . . . g.28882 GTGGAAGGCATTCTGGAACACACACTCTTTAAGGGCACTTACTTCCCTACCTGGGAGGGG c.4500 V E G I L E H T L F K G T Y F P T W E G p.1500 | 29 . . . . . g.29107 CTTTTCTG | GGAGAAGGCCAGTGGCTTTGAGGAATCTATGAAGTGGAAGAAGCTAACTAAT c.4560 L F W | E K A S G F E E S M K W K K L T N p.1520 . . . . . . g.29167 GCTCAGCGATCAGGACTGAACCAGATTCCCAATCGTAGATTCACCCTCTGGTGGTCCCCG c.4620 A Q R S G L N Q I P N R R F T L W W S P p.1540 . | 30 . . . . g.29346 ACCATTAATCGAGCCAAT | GTATATGTAGGCTTTCAGGTGCAGCTAGACCTGACGGGTATC c.4680 T I N R A N | V Y V G F Q V Q L D L T G I p.1560 . . . . . . g.29406 TTCATGCACGGCAAGATCCCCACGCTGAAGATCTCTCTCATCCAGATCTTCCGAGCTCAC c.4740 F M H G K I P T L K I S L I Q I F R A H p.1580 . . . . | 31 . . g.29896 TTGTGGCAGAAGATCCATGAGAGCATTGTTATGGACTTATGTCAG | GTGTTTGACCAGGAA c.4800 L W Q K I H E S I V M D L C Q | V F D Q E p.1600 . . . . . . g.29956 CTTGATGCACTGGAAATTGAGACAGTACAAAAGGAGACAATCCATCCCCGAAAGTCATAT c.4860 L D A L E I E T V Q K E T I H P R K S Y p.1620 . . . . . . g.30016 AAGATGAACTCTTCCTGTGCAGATATCCTGCTCTTTGCCTCCTATAAGTGGAATGTCTCC c.4920 K M N S S C A D I L L F A S Y K W N V S p.1640 . . | 32 . . . . g.30368 CGGCCCTCATTGCTGGCTGACTCCAA | GGATGTGATGGACAGCACCACCACCCAGAAATAC c.4980 R P S L L A D S K | D V M D S T T T Q K Y p.1660 . . . . . . g.30428 TGGATTGACATCCAGTTGCGCTGGGGGGACTATGATTCCCACGACATTGAGCGCTACGCC c.5040 W I D I Q L R W G D Y D S H D I E R Y A p.1680 . . . . . . g.30488 CGGGCCAAGTTCCTGGACTACACCACCGACAACATGAGTATCTACCCTTCGCCCACAGGT c.5100 R A K F L D Y T T D N M S I Y P S P T G p.1700 . . . | 33 . . g.31141 GTACTCATCGCCATTGACCTGGCCTATAACTTGCACAG | TGCCTATGGAAACTGGTTCCCA c.5160 V L I A I D L A Y N L H S | A Y G N W F P p.1720 . . . . . . g.31201 GGCAGCAAGCCTCTCATACAACAGGCCATGGCCAAGATCATGAAGGCAAACCCTGCCCTG c.5220 G S K P L I Q Q A M A K I M K A N P A L p.1740 . . . . . . g.31261 TATGTGTTACGTGAACGGATCCGCAAGGGGCTACAGCTCTATTCATCTGAACCCACTGAG c.5280 Y V L R E R I R K G L Q L Y S S E P T E p.1760 . . . . . . g.31321 CCTTATTTGTCTTCTCAGAACTATGGTGAGCTCTTCTCCAACCAGATTATCTGGTTTGTG c.5340 P Y L S S Q N Y G E L F S N Q I I W F V p.1780 . . . | 34 . . . g.31525 GATGACACCAACGTCTACAGAGTGACTATTCACAAG | ACCTTTGAAGGGAACTTGACAACC c.5400 D D T N V Y R V T I H K | T F E G N L T T p.1800 . . . . . . g.31585 AAGCCCATCAACGGAGCCATCTTCATCTTCAACCCACGCACAGGGCAGCTGTTCCTCAAG c.5460 K P I N G A I F I F N P R T G Q L F L K p.1820 . . . . | 35 . . g.33136 ATAATCCACACGTCCGTGTGGGCGGGACAGAAGCGTTTGGGGCAG | TTGGCTAAGTGGAAG c.5520 I I H T S V W A G Q K R L G Q | L A K W K p.1840 . . . . . . g.33196 ACAGCTGAGGAGGTGGCCGCCCTGATCCGATCTCTGCCTGTGGAGGAGCAGCCCAAGCAG c.5580 T A E E V A A L I R S L P V E E Q P K Q p.1860 . . . | 36 . . g.33338 ATCATTGTCACCAGGAAGGGCATGCTGGACCCACTGGAG | GTGCACTTACTGGACTTCCCC c.5640 I I V T R K G M L D P L E | V H L L D F P p.1880 . . . . . . g.33398 AATATTGTCATCAAAGGATCGGAGCTCCAACTCCCTTTCCAGGCGTGTCTCAAGGTGGAA c.5700 N I V I K G S E L Q L P F Q A C L K V E p.1900 . . . . . . g.33458 AAATTCGGGGATCTCATCCTTAAAGCCACTGAGCCCCAGATGGTTCTCTTCAACCTCTAT c.5760 K F G D L I L K A T E P Q M V L F N L Y p.1920 . . . | 37 . . . g.34366 GACGACTGGCTCAAGACTATTTCATCTTACACG | GCCTTCTCCCGTCTCATCCTGATTCTG c.5820 D D W L K T I S S Y T | A F S R L I L I L p.1940 . . . . . . g.34426 CGTGCCCTACATGTGAACAACGATCGGGCAAAAGTGATCCTGAAGCCAGACAAGACTACT c.5880 R A L H V N N D R A K V I L K P D K T T p.1960 . . . . . . g.34486 ATTACAGAACCACACCACATCTGGCCCACTCTGACTGACGAAGAATGGATCAAGGTCGAG c.5940 I T E P H H I W P T L T D E E W I K V E p.1980 . . . . | 38. . g.35879 GTGCAGCTCAAGGATCTGATCTTGGCTGACTACGGCAAGAAAAACAA | TGTGAACGTGGCA c.6000 V Q L K D L I L A D Y G K K N N | V N V A p.2000 . . . . . . g.35939 TCACTGACACAATCAGAAATTCGAGACATCATCCTGGGTATGGAGATCTCGGCACCGTCA c.6060 S L T Q S E I R D I I L G M E I S A P S p.2020 . . . . . . g.35999 CAGCAGCGGCAGCAGATCGCTGAGATCGAGAAGCAGACCAAGGAACAATCGCAGCTGACG c.6120 Q Q R Q Q I A E I E K Q T K E Q S Q L T p.2040 . . . . . . g.36059 GCAACACAGACTCGCACTGTCAACAAGCATGGCGATGAGATCATCACCTCCACCACCAGC c.6180 A T Q T R T V N K H G D E I I T S T T S p.2060 . . . . | 39. . g.36212 AACTATGAGACCCAGACTTTCTCATCCAAGACTGAGTGGAGGGTCAG | GGCCATCTCTGCT c.6240 N Y E T Q T F S S K T E W R V R | A I S A p.2080 . . . . . . g.36272 GCCAACCTGCACCTAAGGACCAATCACATCTATGTTTCATCTGACGACATCAAGGAGACT c.6300 A N L H L R T N H I Y V S S D D I K E T p.2100 . . . . . . g.36332 GGCTACACCTACATCCTTCCCAAGAATGTGCTTAAGAAGTTCATCTGCATATCTGACCTT c.6360 G Y T Y I L P K N V L K K F I C I S D L p.2120 | 40 . . . . . g.38145 CGGGCCCAA | ATTGCAGGATACCTATATGGGGTGAGCCCACCAGATAACCCCCAGGTGAAG c.6420 R A Q | I A G Y L Y G V S P P D N P Q V K p.2140 . . . . . . g.38205 GAGATCCGCTGCATTGTGATGGTGCCGCAGTGGGGCACTCACCAGACCGTGCACCTGCCT c.6480 E I R C I V M V P Q W G T H Q T V H L P p.2160 . . . | 41 . . . g.38359 GGCCAGCTGCCCCAGCATGAGTACCTCAAG | GAGATGGAACCCTTAGGTTGGATCCACACT c.6540 G Q L P Q H E Y L K | E M E P L G W I H T p.2180 . . . . . . g.38419 CAGCCCAATGAGTCCCCGCAGTTATCACCCCAGGATGTCACCACCCATGCCAAGATCATG c.6600 Q P N E S P Q L S P Q D V T T H A K I M p.2200 . . . . . | 42 . g.38582 GCTGACAACCCATCTTGGGATGGCGAGAAGACCATTATCATCACATGCAG | CTTCACGCCA c.6660 A D N P S W D G E K T I I I T C S | F T P p.2220 . . . . . . g.38642 GGCTCCTGTACACTGACGGCCTACAAGCTGACCCCCAGTGGCTACGAATGGGGCCGCCAG c.6720 G S C T L T A Y K L T P S G Y E W G R Q p.2240 . . . . . . g.38702 AACACAGACAAGGGCAACAACCCCAAGGGCTACCTGCCTTCACACTATGAGAGGGTGCAG c.6780 N T D K G N N P K G Y L P S H Y E R V Q p.2260 . . . . . . g.38762 ATGCTGCTGTCGGACCGTTTCCTTGGCTTCTTCATGGTCCCTGCCCAGTCCTCGTGGAAC c.6840 M L L S D R F L G F F M V P A Q S S W N p.2280 . | 43 . . . . . g.38973 TACAACTTCATGG | GTGTTCGGCATGACCCCAACATGAAATATGAGCTACAGCTGGCGAAC c.6900 Y N F M G | V R H D P N M K Y E L Q L A N p.2300 . . . . . . g.39033 CCCAAAGAGTTCTACCACGAGGTGCACAGGCCCTCTCACTTCCTCAACTTTGCTCTCCTG c.6960 P K E F Y H E V H R P S H F L N F A L L p.2320 . . . . g.39081 CAGGAGGGGGAGGTTTACTCTGCGGATCGGGAGGACCTGTATGCCTGA c.7008 Q E G E V Y S A D R E D L Y A X p.2335 . . . . . . g.39141 ccgtttccctgcctcctgcttcagcctcccgaggccgaagcctcagcccctccagacagg c.*60 . . . . . . g.39201 ccgctgacattcagcagtttggcctctttccctctgtctgtgcttgtgttgttgacctcc c.*120 . . . . . g.39254 tgatggcttgtcatcctgaataaaatataataataaattttgtataaatagga c.*173 (downstream sequence)Legend:
Powered by LOVD v.3.0 Build 21c
©2004-2019 Leiden University Medical Center