(used for variant description)
(last modified January 26, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_002609.3 in the PDGFRB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023367.1, covering PDGFRB transcript NM_002609.3.
(upstream sequence)
. . . . g.5049
ctcctgaggctgccagcagccagcagtgactgcccgccctatctgggac c.-421
. . . . . . g.5109
ccaggatcgctctgtgagcaacttggagccagagaggagatcaacaaggaggaggagaga c.-361
. . . . . . g.5169
gccggcccctcagccctgctgcccagcagcagcctgtgctcgccctgcccaacgcagaca c.-301
. . . . . . g.5229
gccagacccagggcggcccctctggcggctctgctcctcccgaaggatgcttggggagtg c.-241
. . . . . . g.5289
aggcgaagctgggccgctcctctcccctacagcagcccccttcctccatccctctgttct c.-181
. . . . . . g.5349
cctgagccttcaggagcctgcaccagtcctgcctgtccttctactcagctgttacccact c.-121
. . . . . . g.5409
ctgggaccagcagtctttctgataactgggagagggcagtaaggaggacttcctggaggg c.-61
. . . . . . | 02 g.23812
ggtgactgtccagagcctggaactgtgcccacaccagaagccatcagcagcaag | gacacc c.-1
. . . . | 03 . . g.25001
ATGCGGCTTCCGGGTGCGATGCCAGCTCTGGCCCTCAAAG | GCGAGCTGCTGTTGCTGTCT c.60
M R L P G A M P A L A L K G | E L L L L S p.20
. . . . . . g.25061
CTCCTGTTACTTCTGGAACCACAGATCTCTCAGGGCCTGGTCGTCACACCCCCGGGGCCA c.120
L L L L L E P Q I S Q G L V V T P P G P p.40
. . . . . . g.25121
GAGCTTGTCCTCAATGTCTCCAGCACCTTCGTTCTGACCTGCTCGGGTTCAGCTCCGGTG c.180
E L V L N V S S T F V L T C S G S A P V p.60
. . . . . . g.25181
GTGTGGGAACGGATGTCCCAGGAGCCCCCACAGGAAATGGCCAAGGCCCAGGATGGCACC c.240
V W E R M S Q E P P Q E M A K A Q D G T p.80
. . . . . . g.25241
TTCTCCAGCGTGCTCACACTGACCAACCTCACTGGGCTAGACACGGGAGAATACTTTTGC c.300
F S S V L T L T N L T G L D T G E Y F C p.100
. . . . . . g.25301
ACCCACAATGACTCCCGTGGACTGGAGACCGATGAGCGGAAACGGCTCTACATCTTTGTG c.360
T H N D S R G L E T D E R K R L Y I F V p.120
| 04 . . . . . . g.25899
CCAG | ATCCCACCGTGGGCTTCCTCCCTAATGATGCCGAGGAACTATTCATCTTTCTCACG c.420
P D | P T V G F L P N D A E E L F I F L T p.140
. . . . . . g.25959
GAAATAACTGAGATCACCATTCCATGCCGAGTAACAGACCCACAGCTGGTGGTGACACTG c.480
E I T E I T I P C R V T D P Q L V V T L p.160
. . . . . . g.26019
CACGAGAAGAAAGGGGACGTTGCACTGCCTGTCCCCTATGATCACCAACGTGGCTTTTCT c.540
H E K K G D V A L P V P Y D H Q R G F S p.180
. . . . . . g.26079
GGTATCTTTGAGGACAGAAGCTACATCTGCAAAACCACCATTGGGGACAGGGAGGTGGAT c.600
G I F E D R S Y I C K T T I G D R E V D p.200
. . . | 05 . . . g.26880
TCTGATGCCTACTATGTCTACAGACTCCAGG | TGTCATCCATCAACGTCTCTGTGAACGCA c.660
S D A Y Y V Y R L Q V | S S I N V S V N A p.220
. . . . . . g.26940
GTGCAGACTGTGGTCCGCCAGGGTGAGAACATCACCCTCATGTGCATTGTGATCGGGAAT c.720
V Q T V V R Q G E N I T L M C I V I G N p.240
. . . | 06 . . g.27120
GAGGTGGTCAACTTCGAGTGGACATACCCCCGCAAAGAA | AGTGGGCGGCTGGTGGAGCCG c.780
E V V N F E W T Y P R K E | S G R L V E P p.260
. . . . . . g.27180
GTGACTGACTTCCTCTTGGATATGCCTTACCACATCCGCTCCATCCTGCACATCCCCAGT c.840
V T D F L L D M P Y H I R S I L H I P S p.280
. . . . . . g.27240
GCCGAGTTAGAAGACTCGGGGACCTACACCTGCAATGTGACGGAGAGTGTGAATGACCAT c.900
A E L E D S G T Y T C N V T E S V N D H p.300
. . . | 07 . . . g.27943
CAGGATGAAAAGGCCATCAACATCACCGTGGTTG | AGAGCGGCTACGTGCGGCTCCTGGGA c.960
Q D E K A I N I T V V E | S G Y V R L L G p.320
. . . . . . g.28003
GAGGTGGGCACACTACAATTTGCTGAGCTGCATCGGAGCCGGACACTGCAGGTAGTGTTC c.1020
E V G T L Q F A E L H R S R T L Q V V F p.340
. . . . . . g.28063
GAGGCCTACCCACCGCCCACTGTCCTGTGGTTCAAAGACAACCGCACCCTGGGCGACTCC c.1080
E A Y P P P T V L W F K D N R T L G D S p.360
. . . . | 08. . g.28778
AGCGCTGGCGAAATCGCCCTGTCCACGCGCAACGTGTCGGAGACCCG | GTATGTGTCAGAG c.1140
S A G E I A L S T R N V S E T R | Y V S E p.380
. . . . . . g.28838
CTGACACTGGTTCGCGTGAAGGTGGCAGAGGCTGGCCACTACACCATGCGGGCCTTCCAT c.1200
L T L V R V K V A E A G H Y T M R A F H p.400
. . . . | 09 . . g.30214
GAGGATGCTGAGGTCCAGCTCTCCTTCCAGCTACAGATCAATG | TCCCTGTCCGAGTGCTG c.1260
E D A E V Q L S F Q L Q I N V | P V R V L p.420
. . . . . . g.30274
GAGCTAAGTGAGAGCCACCCTGACAGTGGGGAACAGACAGTCCGCTGTCGTGGCCGGGGC c.1320
E L S E S H P D S G E Q T V R C R G R G p.440
. . . . | 10. . g.30904
ATGCCCCAGCCGAACATCATCTGGTCTGCCTGCAGAGACCTCAAAAG | GTGTCCACGTGAG c.1380
M P Q P N I I W S A C R D L K R | C P R E p.460
. . . . . . g.30964
CTGCCGCCCACGCTGCTGGGGAACAGTTCCGAAGAGGAGAGCCAGCTGGAGACTAACGTG c.1440
L P P T L L G N S S E E E S Q L E T N V p.480
. . . . . . g.31024
ACGTACTGGGAGGAGGAGCAGGAGTTTGAGGTGGTGAGCACACTGCGTCTGCAGCACGTG c.1500
T Y W E E E Q E F E V V S T L R L Q H V p.500
. . . . . . g.31084
GATCGGCCACTGTCGGTGCGCTGCACGCTGCGCAACGCTGTGGGCCAGGACACGCAGGAG c.1560
D R P L S V R C T L R N A V G Q D T Q E p.520
. | 11 . . . . g.34286
GTCATCGTGGTGCCACACT | CCTTGCCCTTTAAGGTGGTGGTGATCTCAGCCATCCTGGCC c.1620
V I V V P H S | L P F K V V V I S A I L A p.540
. . . . . | 12 . g.35288
CTGGTGGTGCTCACCATCATCTCCCTTATCATCCTCATCATGCTTTGGCAGAAG | AAGCCA c.1680
L V V L T I I S L I I L I M L W Q K | K P p.560
. . . . . . g.35348
CGTTACGAGATCCGATGGAAGGTGATTGAGTCTGTGAGCTCTGACGGCCATGAGTACATC c.1740
R Y E I R W K V I E S V S S D G H E Y I p.580
. . . . . . g.35408
TACGTGGACCCCATGCAGCTGCCCTATGACTCCACGTGGGAGCTGCCGCGGGACCAGCTT c.1800
Y V D P M Q L P Y D S T W E L P R D Q L p.600
| 13. . . . . . g.36081
GTGCTGG | GACGCACCCTCGGCTCTGGGGCCTTTGGGCAGGTGGTGGAGGCCACGGCTCAT c.1860
V L G | R T L G S G A F G Q V V E A T A H p.620
. . . . . | 14 . g.36507
GGCCTGAGCCATTCTCAGGCCACGATGAAAGTGGCCGTCAAGATGCTTAAAT | CCACAGCC c.1920
G L S H S Q A T M K V A V K M L K S | T A p.640
. . . . . . g.36567
CGCAGCAGTGAGAAGCAAGCCCTTATGTCGGAGCTGAAGATCATGAGTCACCTTGGGCCC c.1980
R S S E K Q A L M S E L K I M S H L G P p.660
. . . . | 15 . . g.37675
CACCTGAACGTGGTCAACCTGTTGGGGGCCTGCACCAAAGGAG | GACCCATCTATATCATC c.2040
H L N V V N L L G A C T K G G | P I Y I I p.680
. . . . . . g.37735
ACTGAGTACTGCCGCTACGGAGACCTGGTGGACTACCTGCACCGCAACAAACACACCTTC c.2100
T E Y C R Y G D L V D Y L H R N K H T F p.700
. . . . . . g.37795
CTGCAGCACCACTCCGACAAGCGCCGCCCGCCCAGCGCGGAGCTCTACAGCAATGCTCTG c.2160
L Q H H S D K R R P P S A E L Y S N A L p.720
. . | 16 . . . . g.38856
CCCGTTGGGCTCCCCCTGCCCAG | CCATGTGTCCTTGACCGGGGAGAGCGACGGTGGCTAC c.2220
P V G L P L P S | H V S L T G E S D G G Y p.740
. . . . . . g.38916
ATGGACATGAGCAAGGACGAGTCGGTGGACTATGTGCCCATGCTGGACATGAAAGGAGAC c.2280
M D M S K D E S V D Y V P M L D M K G D p.760
. . . . . . g.38976
GTCAAATATGCAGACATCGAGTCCTCCAACTACATGGCCCCTTACGATAACTACGTTCCC c.2340
V K Y A D I E S S N Y M A P Y D N Y V P p.780
| 17 . . . . . . g.39593
TCTG | CCCCTGAGAGGACCTGCCGAGCAACTTTGATCAACGAGTCTCCAGTGCTAAGCTAC c.2400
S A | P E R T C R A T L I N E S P V L S Y p.800
. . . . . . g.39653
ATGGACCTCGTGGGCTTCAGCTACCAGGTGGCCAATGGCATGGAGTTTCTGGCCTCCAAG c.2460
M D L V G F S Y Q V A N G M E F L A S K p.820
| 18 . . . . . . g.39906
AAC | TGCGTCCACAGAGACCTGGCGGCTAGGAACGTGCTCATCTGTGAAGGCAAGCTGGTC c.2520
N | C V H R D L A A R N V L I C E G K L V p.840
. . . . . . g.39966
AAGATCTGTGACTTTGGCCTGGCTCGAGACATCATGCGGGACTCGAATTACATCTCCAAA c.2580
K I C D F G L A R D I M R D S N Y I S K p.860
| 19 . . . . . . g.40790
GGCAGC | ACCTTTTTGCCTTTAAAGTGGATGGCTCCGGAGAGCATCTTCAACAGCCTCTAC c.2640
G S | T F L P L K W M A P E S I F N S L Y p.880
. . . . . | 20 g.41295
ACCACCCTGAGCGACGTGTGGTCCTTCGGGATCCTGCTCTGGGAGATCTTCACCTTGG | GT c.2700
T T L S D V W S F G I L L W E I F T L G | p.900
. . . . . . g.41355
GGCACCCCTTACCCAGAGCTGCCCATGAACGAGCAGTTCTACAATGCCATCAAACGGGGT c.2760
G T P Y P E L P M N E Q F Y N A I K R G p.920
. . . | 21 . . g.42029
TACCGCATGGCCCAGCCTGCCCATGCCTCCGACGAGAT | CTATGAGATCATGCAGAAGTGC c.2820
Y R M A Q P A H A S D E I | Y E I M Q K C p.940
. . . . . . g.42089
TGGGAAGAGAAGTTTGAGATTCGGCCCCCCTTCTCCCAGCTGGTGCTGCTTCTCGAGAGA c.2880
W E E K F E I R P P F S Q L V L L L E R p.960
. . | 22 . . . . g.43045
CTGTTGGGCGAAGGTTACAAAAAG | AAGTACCAGCAGGTGGATGAGGAGTTTCTGAGGAGT c.2940
L L G E G Y K K | K Y Q Q V D E E F L R S p.980
. . . . . . g.43105
GACCACCCAGCCATCCTTCGGTCCCAGGCCCGCTTGCCTGGGTTCCATGGCCTCCGATCT c.3000
D H P A I L R S Q A R L P G F H G L R S p.1000
. . . . . . g.43165
CCCCTGGACACCAGCTCCGTCCTCTATACTGCCGTGCAGCCCAATGAGGGTGACAACGAC c.3060
P L D T S S V L Y T A V Q P N E G D N D p.1020
. . . . . . g.43225
TATATCATCCCCCTGCCTGACCCCAAACCCGAGGTTGCTGACGAGGGCCCACTGGAGGGT c.3120
Y I I P L P D P K P E V A D E G P L E G p.1040
. | 23. . . . . g.44956
TCCCCCAGCCTAGCCAG | CTCCACCCTGAATGAAGTCAACACCTCCTCAACCATCTCCTGT c.3180
S P S L A S | S T L N E V N T S S T I S C p.1060
. . . . . . g.45016
GACAGCCCCCTGGAGCCCCAGGACGAACCAGAGCCAGAGCCCCAGCTTGAGCTCCAGGTG c.3240
D S P L E P Q D E P E P E P Q L E L Q V p.1080
. . . . . . g.45076
GAGCCGGAGCCAGAGCTGGAACAGTTGCCGGATTCGGGGTGCCCTGCGCCTCGGGCGGAA c.3300
E P E P E L E Q L P D S G C P A P R A E p.1100
. . g.45097
GCAGAGGATAGCTTCCTGTAG c.3321
A E D S F L X p.1106
. . . . . . g.45157
ggggctggcccctaccctgccctgcctgaagctccccccctgccagcacccagcatctcc c.*60
. . . . . . g.45217
tggcctggcctgaccgggcttcctgtcagccaggctgcccttatcagctgtccccttctg c.*120
. . . . . . g.45277
gaagctttctgctcctgacgtgttgtgccccaaaccctggggctggcttaggaggcaaga c.*180
. . . . . . g.45337
aaactgcaggggccgtgaccagccctctgcctccagggaggccaactgactctgagccag c.*240
. . . . . . g.45397
ggttcccccagggaactcagttttcccatatgtaagatgggaaagttaggcttgatgacc c.*300
. . . . . . g.45457
cagaatctaggattctctccctggctgacaggtggggagaccgaatccctccctgggaag c.*360
. . . . . . g.45517
attcttggagttactgaggtggtaaattaacttttttctgttcagccagctacccctcaa c.*420
. . . . . . g.45577
ggaatcatagctctctcctcgcacttttatccacccaggagctagggaagagaccctagc c.*480
. . . . . . g.45637
ctccctggctgctggctgagctagggcctagccttgagcagtgttgcctcatccagaaga c.*540
. . . . . . g.45697
aagccagtctcctccctatgatgccagtccctgcgttccctggcccgagctggtctgggg c.*600
. . . . . . g.45757
ccattaggcagcctaattaatgctggaggctgagccaagtacaggacacccccagcctgc c.*660
. . . . . . g.45817
agcccttgcccagggcacttggagcacacgcagccatagcaagtgcctgtgtccctgtcc c.*720
. . . . . . g.45877
ttcaggcccatcagtcctggggctttttctttatcaccctcagtcttaatccatccacca c.*780
. . . . . . g.45937
gagtctagaaggccagacgggccccgcatctgtgatgagaatgtaaatgtgccagtgtgg c.*840
. . . . . . g.45997
agtggccacgtgtgtgtgccagtatatggccctggctctgcattggacctgctatgaggc c.*900
. . . . . . g.46057
tttggaggaatccctcaccctctctgggcctcagtttccccttcaaaaaatgaataagtc c.*960
. . . . . . g.46117
ggacttattaactctgagtgccttgccagcactaacattctagagtattccaggtggttg c.*1020
. . . . . . g.46177
cacatttgtccagatgaagcaaggccatataccctaaacttccatcctgggggtcagctg c.*1080
. . . . . . g.46237
ggctcctgggagattccagatcacacatcacactctggggactcaggaaccatgcccctt c.*1140
. . . . . . g.46297
ccccaggcccccagcaagtctcaagaacacagctgcacaggccttgacttagagtgacag c.*1200
. . . . . . g.46357
ccggtgtcctggaaagcccccagcagctgccccagggacatgggaagaccacgggacctc c.*1260
. . . . . . g.46417
tttcactacccacgatgacctccgggggtatcctgggcaaaagggacaaagagggcaaat c.*1320
. . . . . . g.46477
gagatcacctcctgcagcccaccactccagcacctgtgccgaggtctgcgtcgaagacag c.*1380
. . . . . . g.46537
aatggacagtgaggacagttatgtcttgtaaaagacaagaagcttcagatgggtacccca c.*1440
. . . . . . g.46597
agaaggatgtgagaggtgggcgctttggaggtttgcccctcacccaccagctgccccatc c.*1500
. . . . . . g.46657
cctgaggcagcgctccatgggggtatggttttgtcactgcccagacctagcagtgacatc c.*1560
. . . . . . g.46717
tcattgtccccagcccagtgggcattggaggtgccaggggagtcagggttgtagccaaga c.*1620
. . . . . . g.46777
cgcccccgcacggggagggttgggaagggggtgcaggaagctcaacccctctgggcacca c.*1680
. . . . . . g.46837
accctgcattgcaggttggcaccttacttccctgggatccccagagttggtccaaggagg c.*1740
. . . . . . g.46897
gagagtgggttctcaatacggtaccaaagatataatcacctaggtttacaaatattttta c.*1800
. . . . . . g.46957
ggactcacgttaactcacatttatacagcagaaatgctattttgtatgctgttaagtttt c.*1860
. . . . . . g.47017
tctatctgtgtacttttttttaagggaaagattttaatattaaacctggtgcttctcact c.*1920
g.47021
caca c.*1924
(downstream sequence)
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