(used for variant description)
(last modified May 29, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_020971.2 in the SPTBN4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering SPTBN4 transcript NM_020971.2.(upstream sequence) . . . . g.5042 ggccgggccgggcagcggacgccgacagggagggcggtcggt c.-61 . . . . . | 02 . g.10403 cgcggcgagcagcggagacagcgacgctggcggccgcgggcccag | gcctcaccttccccg c.-1 . . . . . . g.10463 ATGGCGCAGGTACCAGGGGAAGTGGACAACATGGAGGGCCTGCCTGCTCCTAACAACAAC c.60 M A Q V P G E V D N M E G L P A P N N N p.20 . . . . . . g.10523 CCTGCTGCCCGCTGGGAGAGTCCGGATCGGGGCTGGGAGCGGGAGCAGCCGGCTGCGTCC c.120 P A A R W E S P D R G W E R E Q P A A S p.40 . . . . | 03 . g.25489 ACCGCAGCGGCCTCGCTCTTTGAGTGCTCCCGGATCAAGGCCTTGGCAG | ATGAGCGGGAA c.180 T A A A S L F E C S R I K A L A D | E R E p.60 . . . . . . g.25549 GCCGTGCAGAAGAAAACCTTCACCAAGTGGGTGAACTCGCACCTCGCCCGCGTGGGCTGC c.240 A V Q K K T F T K W V N S H L A R V G C p.80 . . . . . . g.25609 CACATCGGGGACCTCTATGTGGACCTCCGGGACGGCTTCGTGCTCACGCGGCTCCTGGAA c.300 H I G D L Y V D L R D G F V L T R L L E p.100 . . | 04 . . . . g.27895 GTGCTGTCTGGGGAGCAGCTG | CCCAGGCCCACGCGCGGCCGCATGCGGATCCACTCACTG c.360 V L S G E Q L | P R P T R G R M R I H S L p.120 . . . . . . g.27955 GAGAACGTGGACAAGGCGCTGCAGTTTCTGAAGGAGCAGCGCGTGCACCTGGAGAACGTG c.420 E N V D K A L Q F L K E Q R V H L E N V p.140 . . . . . . g.28015 GGTTCGCATGACATCGTGGATGGGAATCACCGGCTGACGCTGGGGCTGGTCTGGACCATC c.480 G S H D I V D G N H R L T L G L V W T I p.160 . | 05 . . . . . g.30789 ATCCTGCGCTTCCAG | ATTCAAGTCATCAAAATTGAGACTGAGGACAACAGAGAGACACGC c.540 I L R F Q | I Q V I K I E T E D N R E T R p.180 . . . . | 06. . g.32691 TCAGCCAAGGATGCTCTGCTCTTGTGGTGTCAGATGAAGACAGCTGG | TTACCCTGAGGTA c.600 S A K D A L L L W C Q M K T A G | Y P E V p.200 . . . . . . g.32751 AACATCCAGAATTTCACCACCAGCTGGCGGGATGGCTTGGCCTTCAATGCCCTCATTCAC c.660 N I Q N F T T S W R D G L A F N A L I H p.220 | 07 . . . . . g.35322 CGGCACAG | GCCTGATCTCGTGGACTTCAGCAAACTCACCAAGTCCAATGCCAACTACAAC c.720 R H R | P D L V D F S K L T K S N A N Y N p.240 . . . . . . g.35382 CTGCAGAGAGCCTTCCGCACAGCTGAGCAGCACCTGGGGCTGGCGCGGCTGCTGGATCCT c.780 L Q R A F R T A E Q H L G L A R L L D P p.260 | 08 . . . . . . g.39758 GAAG | ATGTGAACATGGAGGCTCCAGATGAGAAGTCCATCATCACCTACGTGGTCTCTTTC c.840 E D | V N M E A P D E K S I I T Y V V S F p.280 . . . . . | 09. g.39912 TACCACTATTTCTCCAAGATGAAGGCTCTGGCTGTGGAGGGGAAGCGTATCGGGAAG | GTC c.900 Y H Y F S K M K A L A V E G K R I G K | V p.300 . . . . . . g.39972 TTGGACCAGGTATTGGAGGTGGGGAAGATCATAGAACGCTACGAGGAGCTGGCGGCTGAG c.960 L D Q V L E V G K I I E R Y E E L A A E p.320 . . . . . . g.40032 CTGCTGGCCTGGATCCACCGCACCGTGGGCCTCATCAGCAATCAGAAATTTGCCAACTCC c.1020 L L A W I H R T V G L I S N Q K F A N S p.340 . . . . . . g.40092 TTAAGTGGGGTGCAGCAGCAACTCCAGGCTTTCACGGCCTATTGCACGCTGGAGAAGCCT c.1080 L S G V Q Q Q L Q A F T A Y C T L E K P p.360 | 10 . . . . . . g.40226 GTCAA | GTTCCAGGAGAAGGGGAACCTAGAGGTGCTGCTCTTCAGCATCCAGAGCAAACTG c.1140 V K | F Q E K G N L E V L L F S I Q S K L p.380 . . . . . . g.40286 CGTGCCTGCAACCGTCGCCTCTTTGTGCCTCGGGAGGGCTGTGGCATCTGGGATATTGAC c.1200 R A C N R R L F V P R E G C G I W D I D p.400 | 11 . . . . . . g.40613 AAG | GCATGGGGTGAGCTGGAGAAGGCTGAGCATGAGCGGGAGGCTGCCCTACGGGCTGAG c.1260 K | A W G E L E K A E H E R E A A L R A E p.420 . . . . . . g.40673 CTGATTCGGCAGGAGAAGCTGGAACTACTGGCACAGAGGTTTGACCACAAGGTGGCTATG c.1320 L I R Q E K L E L L A Q R F D H K V A M p.440 . . . . | 12 . . g.41629 AGGGAGAGCTGGCTGAATGAGAACCAGCGTCTGGTCTCCCAG | GACAACTTTGGGTATGAG c.1380 R E S W L N E N Q R L V S Q | D N F G Y E p.460 . . . . . . g.41689 CTGCCCGCAGTGGAGGCAGCCATGAAGAAACACGAAGCGATCGAGGCAGACATTGCGGCC c.1440 L P A V E A A M K K H E A I E A D I A A p.480 . . . . . . g.41749 TACGAGGAGCGGGTGCAGGGTGTGGCGGAGCTGGCCCAGGCATTGGCAGCCGAAGGCTAC c.1500 Y E E R V Q G V A E L A Q A L A A E G Y p.500 . . . . . . g.41809 TACGATATCCGGCGGGTGGCAGCCCAGCGTGACAGCGTCCTGCGCCAGTGGGCCCTGCTA c.1560 Y D I R R V A A Q R D S V L R Q W A L L p.520 . . . . . . g.41869 ACTGGGCTTGTGGGTGCCCGGCGGACACGACTTGAGCAGAACCTTGCCCTGCAGAAGGTC c.1620 T G L V G A R R T R L E Q N L A L Q K V p.540 . . . . | 13 . . g.44032 TTCCAGGAGATGGTGTACATGGTGGACTGGATGGAGGAGATGCAG | GCTCAGCTGCTGTCC c.1680 F Q E M V Y M V D W M E E M Q | A Q L L S p.560 . . . . . . g.44092 CGGGAGTGTGGGCAGCACCTGGTGGAGGCAGACGACCTGTTGCAGAAGCATGGACTGCTG c.1740 R E C G Q H L V E A D D L L Q K H G L L p.580 . . . . . . g.44152 GAGGGAGACATTGCCGCCCAGAGCGAGCGGGTGGAGGCTCTCAATGCCGCTGCCCTGCGC c.1800 E G D I A A Q S E R V E A L N A A A L R p.600 . | 14 . . . . . g.50431 TTCTCCCAGCTGCAGG | GCTACCAGCCCTGCGACCCGCAGGTCATCTGCAACCGCGTGAAC c.1860 F S Q L Q G | Y Q P C D P Q V I C N R V N p.620 . . . . . . g.50491 CACGTGCACGGCTGCCTGGCGGAGCTGCAGGAGCAGGCAGCGCGGCGACGCGCGGAGCTG c.1920 H V H G C L A E L Q E Q A A R R R A E L p.640 . . . . . . g.50551 GAGGCTTCGCGGAGCCTGTGGGCGCTGCTGCAGGAGCTGGAGGAGGCCGAGAGCTGGGCG c.1980 E A S R S L W A L L Q E L E E A E S W A p.660 . . . . . . g.50611 CGCGACAAGGAGCGTCTCCTGGAGGCTGCGGGCGGCGGCGGTGCGGCGGGCGCAGCGGGC c.2040 R D K E R L L E A A G G G G A A G A A G p.680 . . . . . . g.50671 GCAGCGGGAACAGCGGGCGGCGCGCATGACCTGTCCAGCACAGCGCGCCTCCTGGCCCAG c.2100 A A G T A G G A H D L S S T A R L L A Q p.700 . . . . . . g.50731 CACAAGATCCTGCAGGGCGAGCTGGGCGGGCGGCGAGCGTTGCTGCAGCAGGCCCTGCGG c.2160 H K I L Q G E L G G R R A L L Q Q A L R p.720 . . . . . . g.50791 TGTGGCGAGGAGCTGGTTGCGGCCGGCGGTGCCGTCGGCCCGGGAGCAGACACCGTGCAC c.2220 C G E E L V A A G G A V G P G A D T V H p.740 . . . . . . g.50851 CTGGTAGGCCTGGCGGAGCGCGCGGCGAGCGCCCGGCGCCGCTGGCAGAGGCTGGAAGAG c.2280 L V G L A E R A A S A R R R W Q R L E E p.760 . . . . . . g.50911 GCGGCGGCGCGGCGAGAGCGGCGGCTGCAGGAGGCGCGGGCGCTGCACCAGTTCGGCGCT c.2340 A A A R R E R R L Q E A R A L H Q F G A p.780 . . . . . . g.50971 GACCTCGACGGGCTGCTGGACTGGCTTCGCGACGCTTACCGCCTGGCAGCCGCCGGTGAC c.2400 D L D G L L D W L R D A Y R L A A A G D p.800 . . . . . . g.51031 TTCGGCCACGACGAAGCTTCCAGCCGCCGCCTGGCGCGCCAGCACCGCGCGCTCACCGGG c.2460 F G H D E A S S R R L A R Q H R A L T G p.820 . . . . . . g.51091 GAGGTGGAGGCACATCGCGGGCCCGTGAGCGGCCTGCGGCGCCAGCTGGCGACACTCGGG c.2520 E V E A H R G P V S G L R R Q L A T L G p.840 . . . . . . g.51151 GGTGCCAGTGGCGCAGGGCCACTGGTGGTGGCGCTGCAGGTGCGCGTGGTGGAAGCAGAG c.2580 G A S G A G P L V V A L Q V R V V E A E p.860 . . . . . . g.51211 CAGTTGTTCGCTGAGGTGACCGAAGTGGCGGCGCTGAGGCGCCAGTGGCTGCGGGACGCG c.2640 Q L F A E V T E V A A L R R Q W L R D A p.880 . . . . . . g.51271 CTCGCTGTCTACCGCATGTTTGGCGAGGTGCACGCGTGTGAGCTGTGGATCGGCGAGAAG c.2700 L A V Y R M F G E V H A C E L W I G E K p.900 . . . . . . g.51331 GAGCAATGGCTGCTCTCCATGCGTGTGCCGGATTCACTCGACGACGTCGAGGTGGTGCAG c.2760 E Q W L L S M R V P D S L D D V E V V Q p.920 | 15 . . . . . . g.53147 CACCG | ATTCGAGAGCCTGGACCAAGAGATGAACAGCCTGATGGGCCGCGTTCTGGACGTG c.2820 H R | F E S L D Q E M N S L M G R V L D V p.940 . . . . . . g.53207 AACCACACAGTCCAGGAGCTGGTGGAAGGAGGCCACCCCAGTTCAGATGAGGTGCGTTCC c.2880 N H T V Q E L V E G G H P S S D E V R S p.960 . . | 16 . . . . g.57219 TGCCAGGACCACCTCAACAGCAG | GTGGAACCGCATCGTGGAGCTAGTGGAACAGCGCAAA c.2940 C Q D H L N S R | W N R I V E L V E Q R K p.980 . . . . . . g.57279 GAGGAAATGAGCGCGGTGCTGCTGGTGGAGAACCACGTGCTGGAGGTGGCCGAGGTGCGC c.3000 E E M S A V L L V E N H V L E V A E V R p.1000 . . . . . . g.57339 GCCCAGGTGCGTGAGAAGCGGAGAGCTGTGGAGAGCGCGCCCCGGGCCGGCGGCGCCCTG c.3060 A Q V R E K R R A V E S A P R A G G A L p.1020 . . . . . . g.57399 CAGTGGCGTCTTAGCGGCCTAGAGGCCGCTCTGCAGGCGCTGGAGCCGCGCCAGGCGGCC c.3120 Q W R L S G L E A A L Q A L E P R Q A A p.1040 . . . . . . g.57459 CTTCTGGAGGAGGCAGCCCTGCTGGCTGAGCGCTTCCCGGCGCAGGCGGCGCGGCTGCAC c.3180 L L E E A A L L A E R F P A Q A A R L H p.1060 . . . . . . g.57519 CAGGGCGCGGAGGAGCTGGGCGCCGAGTGGGGCGCGCTAGCTAGCGCGGCTCAGGCCTGC c.3240 Q G A E E L G A E W G A L A S A A Q A C p.1080 . . . . . . g.57579 GGCGAGGCGGTGGCGGCAGCAGGGCGCCTGCAGCGCTTCCTACATGACCTCGACGCTTTC c.3300 G E A V A A A G R L Q R F L H D L D A F p.1100 . . . . . . g.57639 CTGGACTGGCTCGTGCGCGCCCAGGAGGCGGCGGGCGGCAGCGAGGGGCCCCTGCCCAAC c.3360 L D W L V R A Q E A A G G S E G P L P N p.1120 . . . . . . g.57699 AGCCTAGAAGAGGCGGACGCGCTGCTGGCGCGCCACGCTGCGCTCAAGGAGGAGGTGGAC c.3420 S L E E A D A L L A R H A A L K E E V D p.1140 . . . . . . g.57759 CAGCGCGAGGAAGACTATGCTCGCATCGTGGCGGCCAGCGAGGCGCTGCTGGCCGCCGAC c.3480 Q R E E D Y A R I V A A S E A L L A A D p.1160 . . . . . . g.57819 GGCGCAGAGCTGGGCCCGGGCCTGGCACTAGACGAGTGGCTGCCACACCTCGAACTTGGC c.3540 G A E L G P G L A L D E W L P H L E L G p.1180 . . . . . . g.57879 TGGCATAAACTGCTCGGCTTGTGGGAGGCGCGCAGGGAGGCGCTGGTCCAGGCGCACATC c.3600 W H K L L G L W E A R R E A L V Q A H I p.1200 . . . . . | 17 . g.61224 TACCAGCTCTTCCTGCGGGATCTACGCCAGGCGCTCGTGGTGCTGCGTAACCAG | GAGATG c.3660 Y Q L F L R D L R Q A L V V L R N Q | E M p.1220 . . . . . . g.61284 GCGCTGTCTGGTGCGGAGCTCCCGGGCACAGTGGAATCGGTGGAGGAGGCCTTGAAACAG c.3720 A L S G A E L P G T V E S V E E A L K Q p.1240 . . . . . . g.61344 CACCGTGACTTTCTCACCACCATGGAGCTGAGCCAGCAAAAGATGCAGGTGGCCGTGCAG c.3780 H R D F L T T M E L S Q Q K M Q V A V Q p.1260 . . . . . . g.61404 GCTGCAGAGGGCCTGCTGAGGCAGGGCAACATCTACGGGGAGCAGGCTCAGGAGGCTGTG c.3840 A A E G L L R Q G N I Y G E Q A Q E A V p.1280 . | 18. . . . . g.66865 ACCCGGCTGCTGGAGAA | GAACCAAGAAAACCAGTTACGGGCCCAGCAATGGATGCAAAAG c.3900 T R L L E K | N Q E N Q L R A Q Q W M Q K p.1300 . . . . | 19 . g.70418 CTACATGACCAACTTGAGCTGCAGCACTTCCTCCGAGACTGCCACGAG | CTGGATGGCTGG c.3960 L H D Q L E L Q H F L R D C H E | L D G W p.1320 . . . . . . g.70478 ATCCATGAGAAGATGCTGATGGCGCGGGATGGCACGCGGGAGGACAACCACAAGCTGCAT c.4020 I H E K M L M A R D G T R E D N H K L H p.1340 . . . . . . g.70538 AAGAGATGGCTCCGGCACCAGGCATTCATGGCCGAGCTGGCTCAGAATAAGGAGTGGCTG c.4080 K R W L R H Q A F M A E L A Q N K E W L p.1360 . | 20 . . . . . g.71906 GAGAAGATCGAGCGG | GAGGGCCAGCAACTGATGCAGGAGAAGCCCGAACTGGCGGCCTCC c.4140 E K I E R | E G Q Q L M Q E K P E L A A S p.1380 . . . . . . g.71966 GTGCGGAAGAAGCTGGGCGAGATCCGCCAGTGCTGGGCGGAGCTGGAGAGCACCACCCAG c.4200 V R K K L G E I R Q C W A E L E S T T Q p.1400 . . . . . . g.72026 GCCAAGGCACGGCAGCTCTTTGAGGCCAGCAAAGCAGACCAGCTGGTGCAGAGCTTTGCT c.4260 A K A R Q L F E A S K A D Q L V Q S F A p.1420 . . . . . . g.72086 GAGCTGGACAAGAAGCTCCTTCACATGGAGAGCCAGCTGCAAGACGTGGACCCTGGAGGA c.4320 E L D K K L L H M E S Q L Q D V D P G G p.1440 . . . | 21 . . g.86990 GACCTGGCCACTGTCAACAGTCAGCTCAAGAAGCTGCAG | TCCATGGAGTCGCAGGTGGAG c.4380 D L A T V N S Q L K K L Q | S M E S Q V E p.1460 . . . . . . g.87050 GAGTGGTACCGCGAGGTGGGAGAGCTGCAGGCGCAGACGGCGGCGCTGCCGCTGGAGCCG c.4440 E W Y R E V G E L Q A Q T A A L P L E P p.1480 . . . . . . g.87110 GCGAGCAAGGAGCTGGTGGGTGAGCGGCAGAACGCGGTGGGCGAGCGCCTGGTGCGCCTG c.4500 A S K E L V G E R Q N A V G E R L V R L p.1500 . . . . . . g.87170 CTCGAGCCGTTGCAGGAGCGCCGCCGCTTGCTGCTGGCTTCCAAGGAGTTGCACCAGGTG c.4560 L E P L Q E R R R L L L A S K E L H Q V p.1520 . . | 22 . . . . g.88054 GCGCACGACCTGGACGACGAGCTG | GCATGGGTTCAGGAGCGGCTGCCACTGGCCATGCAG c.4620 A H D L D D E L | A W V Q E R L P L A M Q p.1540 . . . . . | 23 . g.91933 ACAGAGCGAGGCAACGGTTTGCAGGCGGTCCAGCAGCACATCAAAAAGAACCAG | GGCCTG c.4680 T E R G N G L Q A V Q Q H I K K N Q | G L p.1560 . . . . . . g.91993 CGGCGGGAGATCCAGGCGCATGGGCCGCGCCTGGAGGAGGTGCTGGAGCGCGCGGGCGCG c.4740 R R E I Q A H G P R L E E V L E R A G A p.1580 . . . . . . g.92053 CTGGCGTCGCTGCGCAGCCCGGAGGCAGAGGCAGTGCGCCGGGGCCTGGAGCAGCTGCAG c.4800 L A S L R S P E A E A V R R G L E Q L Q p.1600 . . . . . . g.92113 AGCGCCTGGGCCGGACTGCGGGAGGCTGCCGAGCGACGGCAGCAGGTGCTGGACGCCGCC c.4860 S A W A G L R E A A E R R Q Q V L D A A p.1620 . . . . . . g.92173 TTCCAGGTGGAGCAGTACTACTTCGACGTGGCTGAGGTGGAGGCGTGGCTGGGCGAGCAG c.4920 F Q V E Q Y Y F D V A E V E A W L G E Q p.1640 . . . | 24 . . . g.92323 GAGCTGCTCATGATGAGTGAGGACAAGGGCAAG | GACGAACAGAGCACCCTGCAGCTGCTC c.4980 E L L M M S E D K G K | D E Q S T L Q L L p.1660 . . . . . . g.92383 AAGAAACACCTGCAGCTGGAGCAAGGCGTGGAGAACTACGAGGAAAGCATCGCGCAGCTG c.5040 K K H L Q L E Q G V E N Y E E S I A Q L p.1680 . . . . | 25 . . g.93880 TCGCGCCAGTGCCGGGCGCTGCTGGAGATGGGGCACCCGGACAG | CGAGCAGATCAGCCGG c.5100 S R Q C R A L L E M G H P D S | E Q I S R p.1700 . . . . . . g.93940 CGGCAGTCTCAGGTGGACCGCCTGTACGTGGCGCTCAAGGAGCTGGGTGAGGAGCGCCGG c.5160 R Q S Q V D R L Y V A L K E L G E E R R p.1720 . . . . . . g.94000 GTGGCTCTGGAACAGCAGTACTGGCTGTACCAGCTCAGCCGCCAGGTGAGCGAGCTTGAG c.5220 V A L E Q Q Y W L Y Q L S R Q V S E L E p.1740 . . . . . . g.94060 CACTGGATTGCCGAGAAGGAGGTGGTGGCTGGCTCACCCGAGCTCGGCCAGGACTTTGAG c.5280 H W I A E K E V V A G S P E L G Q D F E p.1760 | 26 . . . . . g.94854 CATGTCTCG | GTGCTGCAGGAGAAATTCTCAGAGTTTGCCAGCGAGACAGGTATGGCAGGG c.5340 H V S | V L Q E K F S E F A S E T G M A G p.1780 . . . . . . g.94914 CGGGAACGGCTGGCAGCTGTGAACCAGATGGTGGATGAGCTGATCGAGTGTGGCCATACA c.5400 R E R L A A V N Q M V D E L I E C G H T p.1800 . . . . . . g.94974 GCAGCGGCCACCATGGCCGAGTGGAAGGACGGACTGAACGAGGCCTGGGCTGAGCTGCTG c.5460 A A A T M A E W K D G L N E A W A E L L p.1820 . . . . . . g.95034 GAGCTCATGGGCACACGGGCCCAGCTGCTGGCCGCCTCTCGGGAGCTTCATAAGTTCTTC c.5520 E L M G T R A Q L L A A S R E L H K F F p.1840 . . . . . . g.95094 AGTGACGCCCGAGAGCTTCAGGGACAGATTGAGGAGAAGCGGAGGCGGCTGCCCCGCCTG c.5580 S D A R E L Q G Q I E E K R R R L P R L p.1860 . . . . . . g.95154 ACCACCCCGCCTGAGCCGAGACCCAGTGCCAGTTCCATGCAGCGGACCCTGAGAGCCTTT c.5640 T T P P E P R P S A S S M Q R T L R A F p.1880 . . . | 27 . . . g.97969 GAGCATGACCTGCAGCTCCTCGTGTCCCAG | GTACGGCAGCTGCAGGAGGGGGCGGCCCAG c.5700 E H D L Q L L V S Q | V R Q L Q E G A A Q p.1900 . . . . . . g.98029 CTGCGGACGGTGTATGCGGGTGAACATGCCGAGGCCATCGCTAGCCGGGAGCAGGAGGTG c.5760 L R T V Y A G E H A E A I A S R E Q E V p.1920 . . . . . . g.98089 CTGCAGGGTTGGAAAGAGCTGCTGTCAGCCTGTGAGGATGCCCGCCTGCATGTCAGCTCC c.5820 L Q G W K E L L S A C E D A R L H V S S p.1940 . . . . . . g.98149 ACAGCCGACGCCCTGCGCTTCCACAGCCAAGTCCGCGACCTGCTCTCCTGGATGGATGGC c.5880 T A D A L R F H S Q V R D L L S W M D G p.1960 . . . | 28 . . . g.103228 ATCGCCAGCCAGATTGGGGCAGCCGACAAGCCCAG | GGACGTGTCATCAGTGGAGGTGCTC c.5940 I A S Q I G A A D K P R | D V S S V E V L p.1980 . . . . . . g.103288 ATGAACTACCACCAGGGCCTGAAGACTGAGCTGGAGGCGCGGGTGCCTGAGCTGACCACC c.6000 M N Y H Q G L K T E L E A R V P E L T T p.2000 . . . . . | 29 . g.103447 TGCCAGGAGCTGGGGCGATCTCTGCTGCTCAACAAAAGTGCCATGGCTGATGAG | ATCCAG c.6060 C Q E L G R S L L L N K S A M A D E | I Q p.2020 . . . . . . g.103507 GCACAGCTGGACAAGCTGGGAACCAGGAAGGAGGAGGTGTCGGAAAAGTGGGACCGCCAT c.6120 A Q L D K L G T R K E E V S E K W D R H p.2040 . | 30 . . . . g.103984 TGGGAGTGGCTGCAGCAGA | TGCTGGAGGTGCACCAGTTTGCCCAGGAGGCGGTGGTGGCT c.6180 W E W L Q Q M | L E V H Q F A Q E A V V A p.2060 . . . . . . g.104044 GATGCCTGGCTGACAGCCCAGGAGCCGCTCCTGCAGAGCCGGGAGCTGGGCAGCAGCGTG c.6240 D A W L T A Q E P L L Q S R E L G S S V p.2080 . . . . . . g.104104 GATGAGGTGGAGCAGCTTATCCGGCGACATGAGGCCTTCCGCAAAGCGGCTGCAGCCTGG c.6300 D E V E Q L I R R H E A F R K A A A A W p.2100 . . . | 31 . . . g.105467 GAAGAGAGGTTCAGCTCTCTGCGGCGCCTGACCACG | ATCGAGAAAATCAAAGCGGAACAG c.6360 E E R F S S L R R L T T | I E K I K A E Q p.2120 . . . . . . g.105527 AGCAAGCAGCCGCCTACCCCACTGCTGGGGCGCAAGTTCTTTGGGGACCCCACGGAACTG c.6420 S K Q P P T P L L G R K F F G D P T E L p.2140 . . . . . . g.105587 GCGGCCAAGGCGGCGCCCCTGCTGCGGCCAGGGGGCTATGAAAGGGGCTTGGAGCCCCTG c.6480 A A K A A P L L R P G G Y E R G L E P L p.2160 . . . . . . g.105647 GCCCGCCGAGCCTCGGACACGCTCTCGGCCGAGGTGCGGACTCGGGTGGGGTATGTGCGC c.6540 A R R A S D T L S A E V R T R V G Y V R p.2180 . . . . . . g.105707 CAGGAGCTCAAGCCCGAGCGCCTCCAGCCGCGCATTGACCGGCTGCCGGAGATCCCGGGG c.6600 Q E L K P E R L Q P R I D R L P E I P G p.2200 . . . . . . g.105767 AGGGTGGAGCCCGCGGCCCTGCCGGCCGCACCAGAGGACGCGGCGGAGACCCCCGCGACC c.6660 R V E P A A L P A A P E D A A E T P A T p.2220 . . . . . . g.105827 CCCGCGGCGGCGGAGCAGGTGCGGCCACGACCGGAGCGCCAGGAGTCAGCTGATCGCGCG c.6720 P A A A E Q V R P R P E R Q E S A D R A p.2240 . . . . . . g.105887 GAGGAGCTGCCCAGGAGGCGGCGGCCTGAGCGGCAAGAGTCAGTCGATCAATCCGAGGAG c.6780 E E L P R R R R P E R Q E S V D Q S E E p.2260 . . . . . . g.105947 GCTGCGCGGAGGCGGCGGCCGGAGCGGCAGGAGTCAGCGGAGCACGAGGCGGCACACAGC c.6840 A A R R R R P E R Q E S A E H E A A H S p.2280 . . . . . . g.106007 CTTACCCTGGGCCGCTATGAGCAGATGGAGCGGCGGCGCGAGCGGCGTGAGCGGCGCTTG c.6900 L T L G R Y E Q M E R R R E R R E R R L p.2300 . . . . . | 32 . g.107441 GAGCGGCAGGAGTCCAGCGAACAGGAGATGCCCATCAGAGGAGACCTGGTCAAGGG | GAAG c.6960 E R Q E S S E Q E M P I R G D L V K G | K p.2320 . . . . . . g.107501 GCCACCCTGGCTGACATTGTGGAACAGCTGCAGGAGAAAGAGGCAGGCCCAGGGCTGCCT c.7020 A T L A D I V E Q L Q E K E A G P G L P p.2340 | 33 . . . . . . g.108270 GCTGGG | CCGTCGCTGCCTCAGCCACGCGAGCTTCCCCCAGGTCGCCTGCCCAACGGGCTT c.7080 A G | P S L P Q P R E L P P G R L P N G L p.2360 . . . . . . g.108330 GAGCTGCCCGAGCGGACACCTCGGCCGGACCGGCCCCGGGCGCGGGACCGGCCCAAGCCG c.7140 E L P E R T P R P D R P R A R D R P K P p.2380 . . . . . . g.108390 CGACGGCGGCCGCGGCCCAGAGAGGGTGGTGAGGGCGGGGGAAGCCGGCGCTCGCGCTCC c.7200 R R R P R P R E G G E G G G S R R S R S p.2400 . . . . . . g.108450 GCCCCGGCCCAGGGCGGCTCCGCCCCCGCGCCTCCGCCACCGCCCACTCACACAGTGCAG c.7260 A P A Q G G S A P A P P P P P T H T V Q p.2420 . . . . . | 34 g.109800 CACGAGGGCTTCCTACTGCGCAAGCGCGAGCTCGACGCTAACCGCAAGTCGTCCAACCG | G c.7320 H E G F L L R K R E L D A N R K S S N R | p.2440 . . . . . . g.109860 TCGTGGGTGAGCCTGTACTGTGTGCTTAGTAAGGGGGAACTGGGCTTCTACAAGGACTCC c.7380 S W V S L Y C V L S K G E L G F Y K D S p.2460 . . . . . . g.109920 AAGGGCCCGGCATCCGGGAGCACACACGGTGGGGAACCGCTGCTCAGCCTGCACAAGGCC c.7440 K G P A S G S T H G G E P L L S L H K A p.2480 . . . . . | 35 . g.110125 ACCAGCGAGGTGGCTAGTGACTACAAGAAAAAGAAGCATGTCTTCAAGCTCCA | GACCCAG c.7500 T S E V A S D Y K K K K H V F K L Q | T Q p.2500 . . . | 36 . . . g.113215 GATGGCAGTGAGTTTTTGCTCCAGGCAAAAGATGAG | GAGGAGATGAACGGCTGGCTGGAG c.7560 D G S E F L L Q A K D E | E E M N G W L E p.2520 . . . . . . g.113275 GCTGTAGCTTCCTCGGTGGCGGAACACGCAGAGATCGCCCGCTGGGGCCAGACACTACCC c.7620 A V A S S V A E H A E I A R W G Q T L P p.2540 . . . . . . g.113335 ACTACTTCATCCACAGATGAGGGCAACCCTAAGAGGGAAGGCGGAGATCGCAGGGCCAGC c.7680 T T S S T D E G N P K R E G G D R R A S p.2560 . g.113350 GGGCGCAGGAAGTGA c.7695 G R R K X p.2564 . . . . . . g.113410 cttcccacccccaggacctgacacatctcgtctcccctcttttccgcactgtgggcacaa c.*60 . . . . . . g.113470 agacactttttcttccgcaggggcgggagcccctagttccaacactgaggacgcgtgaca c.*120 . . . . . . g.113530 tggtgggcaccggaaaggaggggacttctcctgcaccccaagaagtggtggggagattgc c.*180 . . . . . . g.113590 tgcccctatagccatatctcggccccttcccactcaccacccccaccccaggtgctgggg c.*240 . . . . . . g.113650 gtcccttatttttatgcaataactgagcttgatgggggtgggcagggggccagttgagcc c.*300 . . . . . . g.113710 aagcccccagccccgatctgcagatcctgccccaagaagctggggtggtgggggcagtaa c.*360 . . . . . . g.113770 ttcctgcccccctctctgccctagggatgggcacgggggcgctggtgaggtcccctggac c.*420 . . . . . . g.113830 catccagggtgctagggggcagggaggggacaccccctccccgcctttacctcacttcca c.*480 . . . . . . g.113890 atgctgccttgatctctgtctgggaggggggagtgaaggggccctagccccctgcactcc c.*540 . . . . . . g.113950 gccgcctcagagccatgcggttaattcctgacttagtttatttttgcaaaacgtcgatct c.*600 . . . . . . g.114010 cctcctcccccgccccgcatccgcgaaggcttttaatgggaggggcgtcaaagctcaaaa c.*660 . . . . . . g.114070 ctgttttcctctctcctcccccctccagttgtaaatgccacttcatgaggggaggggcga c.*720 . . . . . . g.114130 ggggaagcccacccctgcatgcttctggctggagcacctccctggggagtcgggggattg c.*780 . . . . . . g.114190 ggttgtgggcagtccccatggccgcctggagaagccgctggggcccgggggtgtggggcg c.*840 . . . . . g.114240 gtgtggcgggcgcacactgtatgtacctataataaaccctttggctttga c.*890 (downstream sequence)Legend:
Powered by LOVD v.3.0 Build 26c
©2004-2021 Leiden University Medical Center