(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the PIK3CD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering PIK3CD transcript NM_005026.3.
(upstream sequence)
. . g.1029
ctcgcgcccagcgcagtcgctccgagcg c.-181
. . . . . | 02 . g.40753
gccgcgagcagagccgcccagccctgccagctgcgccgggacg | ataaggagtcaggccag c.-121
. . . . . . g.40813
ggcgggatgacactcattgattctaaagcatctttaatctgccaggcggagggggctttg c.-61
. . . | 03. . . g.59725
ctggtctttcttggactattccagagag | gacaactgtcatctgggaagtaacaacgcagg c.-1
. . . . . . g.59785
ATGCCCCCTGGGGTGGACTGCCCCATGGAATTCTGGACCAAGGAGGAGAATCAGAGCGTT c.60
M P P G V D C P M E F W T K E E N Q S V p.20
. . . . . . g.59845
GTGGTTGACTTCCTGCTGCCCACAGGGGTCTACCTGAACTTCCCTGTGTCCCGCAATGCC c.120
V V D F L L P T G V Y L N F P V S R N A p.40
. . | 04 . . . . g.64849
AACCTCAGCACCATCAAGCAG | CTGCTGTGGCACCGCGCCCAGTATGAGCCGCTCTTCCAC c.180
N L S T I K Q | L L W H R A Q Y E P L F H p.60
. . . . . . g.64909
ATGCTCAGTGGCCCCGAGGCCTATGTGTTCACCTGCATCAACCAGACAGCGGAGCAGCAA c.240
M L S G P E A Y V F T C I N Q T A E Q Q p.80
. . . . . . g.64969
GAGCTGGAGGACGAGCAACGGCGTCTGTGTGACGTGCAGCCCTTCCTGCCCGTCCTGCGC c.300
E L E D E Q R R L C D V Q P F L P V L R p.100
. . . . . . g.65029
CTGGTGGCCCGTGAGGGCGACCGCGTGAAGAAGCTCATCAACTCACAGATCAGCCTCCTC c.360
L V A R E G D R V K K L I N S Q I S L L p.120
. | 05 . . . . . g.65168
ATCGGCAAAG | GCCTCCACGAGTTTGACTCCTTGTGCGACCCAGAAGTGAACGACTTTCGC c.420
I G K G | L H E F D S L C D P E V N D F R p.140
. . . . . . g.65228
GCCAAGATGTGCCAATTCTGCGAGGAGGCGGCCGCCCGCCGGCAGCAGCTGGGCTGGGAG c.480
A K M C Q F C E E A A A R R Q Q L G W E p.160
. . . . . . g.65288
GCCTGGCTGCAGTACAGTTTCCCCCTGCAGCTGGAGCCCTCGGCTCAAACCTGGGGGCCT c.540
A W L Q Y S F P L Q L E P S A Q T W G P p.180
. . . . . . g.65348
GGTACCCTGCGGCTCCCGAACCGGGCCCTTCTGGTCAACGTTAAGTTTGAGGGCAGCGAG c.600
G T L R L P N R A L L V N V K F E G S E p.200
| 06 . . . . . . g.65769
| GAGAGCTTCACCTTCCAGGTGTCCACCAAGGACGTGCCGCTGGCGCTGATGGCCTGTGCC c.660
| E S F T F Q V S T K D V P L A L M A C A p.220
. . . . . . g.65829
CTGCGGAAGAAGGCCACAGTGTTCCGGCAGCCGCTGGTGGAGCAGCCGGAAGACTACACG c.720
L R K K A T V F R Q P L V E Q P E D Y T p.240
. . . . . . g.65889
CTGCAGGTGAACGGCAGGCATGAGTACCTGTATGGCAGCTACCCGCTCTGCCAGTTCCAG c.780
L Q V N G R H E Y L Y G S Y P L C Q F Q p.260
| 07 . . . . . . g.66288
| TACATCTGCAGCTGCCTGCACAGTGGGTTGACCCCTCACCTGACCATGGTCCATTCCTCC c.840
| Y I C S C L H S G L T P H L T M V H S S p.280
. . . . . . g.66348
TCCATCCTCGCCATGCGGGATGAGCAGAGCAACCCTGCCCCCCAGGTCCAGAAACCGCGT c.900
S I L A M R D E Q S N P A P Q V Q K P R p.300
. . . | 08 . . . g.66836
GCCAAACCACCTCCCATTCCTGCGAAGAAG | CCTTCCTCTGTGTCCCTGTGGTCCCTGGAG c.960
A K P P P I P A K K | P S S V S L W S L E p.320
. . . . . . g.66896
CAGCCGTTCCGCATCGAGCTCATCCAGGGCAGCAAAGTGAACGCCGACGAGCGGATGAAG c.1020
Q P F R I E L I Q G S K V N A D E R M K p.340
| 09 . . . . . . g.68023
| CTGGTGGTGCAGGCCGGGCTTTTCCACGGCAACGAGATGCTGTGCAAGACGGTGTCCAGC c.1080
| L V V Q A G L F H G N E M L C K T V S S p.360
. . . . . . g.68083
TCGGAGGTGAGCGTGTGCTCGGAGCCCGTGTGGAAGCAGCGGCTGGAGTTCGACATCAAC c.1140
S E V S V C S E P V W K Q R L E F D I N p.380
. . . . . . g.68143
ATCTGCGACCTGCCCCGCATGGCCCGTCTCTGCTTTGCGCTGTACGCCGTGATCGAGAAA c.1200
I C D L P R M A R L C F A L Y A V I E K p.400
. . . . | 10 . . g.69208
GCCAAGAAGGCTCGCTCCACCAAGAAGAAGTCCAAGAAGGCG | GACTGCCCCATTGCCTGG c.1260
A K K A R S T K K K S K K A | D C P I A W p.420
. . . . . . g.69268
GCCAACCTCATGCTGTTTGACTACAAGGACCAGCTTAAGACCGGGGAACGCTGCCTCTAC c.1320
A N L M L F D Y K D Q L K T G E R C L Y p.440
. | 11 . . . . g.69422
ATGTGGCCCTCCGTCCCAG | ATGAGAAGGGCGAGCTGCTGAACCCCACGGGCACTGTGCGC c.1380
M W P S V P D | E K G E L L N P T G T V R p.460
. . . . . . g.69482
AGTAACCCCAACACGGATAGCGCCGCTGCCCTGCTCATCTGCCTGCCCGAGGTGGCCCCG c.1440
S N P N T D S A A A L L I C L P E V A P p.480
. . . | 12 . . . g.69910
CACCCCGTGTACTACCCCGCCCTGGAGAAG | ATCTTGGAGCTGGGGCGACACAGCGAGTGT c.1500
H P V Y Y P A L E K | I L E L G R H S E C p.500
. . | 13 . . . . g.70050
GTGCATGTCACCGAGGAGGAG | CAGCTGCAGCTGCGGGAAATCCTGGAGCGGCGGGGGTCT c.1560
V H V T E E E | Q L Q L R E I L E R R G S p.520
. . . . . . g.70110
GGGGAGCTGTATGAGCACGAGAAGGACCTGGTGTGGAAGCTGCGGCATGAAGTCCAGGAG c.1620
G E L Y E H E K D L V W K L R H E V Q E p.540
. . . . . . g.70170
CACTTCCCGGAGGCGCTAGCCCGGCTGCTGCTGGTCACCAAGTGGAACAAGCATGAGGAT c.1680
H F P E A L A R L L L V T K W N K H E D p.560
| 14 . . . . . g.70447
GTGGCCCAG | ATGCTCTACCTGCTGTGCTCCTGGCCGGAGCTGCCCGTCCTGAGCGCCCTG c.1740
V A Q | M L Y L L C S W P E L P V L S A L p.580
. . . . . . g.70507
GAGCTGCTAGACTTCAGCTTCCCCGATTGCCACGTAGGCTCCTTCGCCATCAAGTCGCTG c.1800
E L L D F S F P D C H V G S F A I K S L p.600
. | 15 . . . . . g.70762
CGGAAACTGAC | GGACGATGAGCTGTTCCAGTACCTGCTGCAGCTGGTGCAGGTGCTCAAG c.1860
R K L T | D D E L F Q Y L L Q L V Q V L K p.620
. . . . . . g.70822
TACGAGTCCTACCTGGACTGCGAGCTGACCAAATTCCTGCTGGACCGGGCCCTGGCCAAC c.1920
Y E S Y L D C E L T K F L L D R A L A N p.640
. . . | 16 . . . g.71055
CGCAAGATCGGCCACTTCCTTTTCTGGCACCTCCG | CTCCGAGATGCACGTGCCGTCGGTG c.1980
R K I G H F L F W H L R | S E M H V P S V p.660
. . . . . . g.71115
GCCCTGCGCTTCGGCCTCATCCTGGAGGCCTACTGCAGGGGCAGCACCCACCACATGAAG c.2040
A L R F G L I L E A Y C R G S T H H M K p.680
. | 17 . . . . . g.71289
GTGCTGATGAAGCAG | GGGGAAGCACTGAGCAAACTGAAGGCCCTGAATGACTTCGTCAAG c.2100
V L M K Q | G E A L S K L K A L N D F V K p.700
. . . . . . g.71349
CTGAGCTCTCAGAAGACCCCCAAGCCCCAGACCAAGGAGCTGATGCACTTGTGCATGCGG c.2160
L S S Q K T P K P Q T K E L M H L C M R p.720
. . . . . . g.71409
CAGGAGGCCTACCTAGAGGCCCTCTCCCACCTGCAGTCCCCACTCGACCCCAGCACCCTG c.2220
Q E A Y L E A L S H L Q S P L D P S T L p.740
. | 18 . . . . . g.71559
CTGGCTGAAGTCTG | CGTGGAGCAGTGCACCTTCATGGACTCCAAGATGAAGCCCCTGTGG c.2280
L A E V C | V E Q C T F M D S K M K P L W p.760
. . . . . . g.71619
ATCATGTACAGCAACGAGGAGGCAGGCAGCGGCGGCAGCGTGGGCATCATCTTTAAGAAC c.2340
I M Y S N E E A G S G G S V G I I F K N p.780
| 19. . . . . . g.71850
GGGGATG | ACCTCCGGCAGGACATGCTGACCCTGCAGATGATCCAGCTCATGGACGTCCTG c.2400
G D D | L R Q D M L T L Q M I Q L M D V L p.800
. . | 20 . . . . g.72428
TGGAAGCAGGAGGGGCTGGACCTGAG | GATGACCCCCTATGGCTGCCTCCCCACCGGGGAC c.2460
W K Q E G L D L R | M T P Y G C L P T G D p.820
. . . . . . g.72488
CGCACAGGCCTCATTGAGGTGGTACTCCGTTCAGACACCATCGCCAACATCCAACTCAAC c.2520
R T G L I E V V L R S D T I A N I Q L N p.840
. . . . . . g.72548
AAGAGCAACATGGCAGCCACAGCCGCCTTCAACAAGGATGCCCTGCTCAACTGGCTGAAG c.2580
K S N M A A T A A F N K D A L L N W L K p.860
. | 21 . . . . . g.73284
TCCAAGAACCCGGG | GGAGGCCCTGGATCGAGCCATTGAGGAGTTCACCCTCTCCTGTGCT c.2640
S K N P G | E A L D R A I E E F T L S C A p.880
. . . . . . g.73344
GGCTATTGTGTGGCCACATATGTGCTGGGCATTGGCGATCGGCACAGCGACAACATCATG c.2700
G Y C V A T Y V L G I G D R H S D N I M p.900
. | 22 . . . . g.73587
ATCCGAGAGAGTGGGCAG | CTGTTCCACATTGATTTTGGCCACTTTCTGGGGAATTTCAAG c.2760
I R E S G Q | L F H I D F G H F L G N F K p.920
. . . . . . g.73647
ACCAAGTTTGGAATCAACCGCGAGCGTGTCCCATTCATCCTCACCTACGACTTTGTCCAT c.2820
T K F G I N R E R V P F I L T Y D F V H p.940
. . . . | 23 . . g.74089
GTGATTCAGCAGGGGAAGACTAATAATAGTGAGAAATTTGAACG | GTTCCGGGGCTACTGT c.2880
V I Q Q G K T N N S E K F E R | F R G Y C p.960
. . . . . . g.74149
GAAAGGGCCTACACCATCCTGCGGCGCCACGGGCTTCTCTTCCTCCACCTCTTTGCCCTG c.2940
E R A Y T I L R R H G L L F L H L F A L p.980
. . . . . | 24. g.76181
ATGCGGGCGGCAGGCCTGCCTGAGCTCAGCTGCTCCAAAGACATCCAGTATCTCAAG | GAC c.3000
M R A A G L P E L S C S K D I Q Y L K | D p.1000
. . . . . . g.76241
TCCCTGGCACTGGGGAAAACAGAGGAGGAGGCACTGAAGCACTTCCGAGTGAAGTTTAAC c.3060
S L A L G K T E E E A L K H F R V K F N p.1020
. . . . . . g.76301
GAAGCCCTCCGTGAGAGCTGGAAAACCAAAGTGAACTGGCTGGCCCACAACGTGTCCAAA c.3120
E A L R E S W K T K V N W L A H N V S K p.1040
. g.76316
GACAACAGGCAGTAG c.3135
D N R Q X p.1044
. . . . . . g.76376
tggctcctcccagccctgggcccaagaggaggcggctgcgggtcgtggggaccaagcaca c.*60
. . . . . . g.76436
ttggtcctaaaggggctgaagagcctgaactgcacctaacgggaaagaaccgacatggct c.*120
. . . . . . g.76496
gccttttgtttacactggttatttatttatgacttgaaatagtttaaggagctaaacagc c.*180
. . . . . . g.76556
cataaacggaaacgcctccttcatgcagcggcggtgctgggccccccgaggctgcacctg c.*240
. . . . . . g.76616
gctctcggctgaggattgtcaccccaagtcttccagctggtggatctgggcccagcaaag c.*300
. . . . . . g.76676
actgttctcctcccgagggaaccttcttcccaggcctcccgccagactgcctgggtcctg c.*360
. . . . . . g.76736
gcgcctggcggtcacctggtgcctactgtccgacaggatgccttgatcctcgtgcgaccc c.*420
. . . . . . g.76796
accctgtgtatcctccctagactgagttctggcagctccccgaggcagccggggtaccct c.*480
. . . . . . g.76856
ctagattcagggatgcttgctctccacttttcaagtgggtcttgggtacgagaattccct c.*540
. . . . . . g.76916
catctttctctactgtaaagtgattttgtttgcaggtaagaaaataatagatgactcacc c.*600
. . . . . . g.76976
acacctctacggctggggagatcaggcccagccccataaaggagaatctacgctggtcct c.*660
. . . . . . g.77036
caggacgtgttaaagagatctgggcctcatgtagctcaccccggtcacgcatgaaggcaa c.*720
. . . . . . g.77096
aagcaggtcagaagcgaatactctgccattatctcaaaaatcttttttttttttttgaga c.*780
. . . . . . g.77156
tggggtcttcctctgttgcccaggctggagtgcagtggtgcaatcttggctcactgtaac c.*840
. . . . . . g.77216
ctccgcctcccaggttcaagtgattcttctgcctcagcctcctgagtagctgggattaca c.*900
. . . . . . g.77276
ggtgtgcaccaccgtacccagctaatttttgtattttagtagagacgggggtttcaccat c.*960
. . . . . . g.77336
gttggctgggctggtctcgaactcctgacctcaggtgatccacccgcctgagcctcccaa c.*1020
. . . . . . g.77396
agtgctgggattacaggcatgagccaccgcgcccggcccactctgccattgtctaagcca c.*1080
. . . . . . g.77456
cctctgaaagcaggttttaacaaaaggatgaggccagaactcttccagaaccatcacctt c.*1140
. . . . . . g.77516
tgggaacctgctgtgagagtgctgaggtaccagaagtgtgagaacgagggggcgtgctgg c.*1200
. . . . . . g.77576
gatctttctctctgactatacttagtttgaaatggtgcaggcttagtcttaagcctccaa c.*1260
. . . . . . g.77636
aggcctggatttgagcagctttagaaatgcaggttctagggcttctcccagccttcagaa c.*1320
. . . . . . g.77696
gccaactaactctgcagatggggctaggactgtgggcttttagcagcccacaggtgatcc c.*1380
. . . . . . g.77756
taacatatcaggccatggactcaggacctgcccggtgatgctgttgatttctcaaaggtc c.*1440
. . . . . . g.77816
ttccaaaactcaacagagccagaagtagccgcccgctcagcggctcaggtgccagctctg c.*1500
. . . . . . g.77876
ttctgattcaccaggggtccgtcagtagtcattgccacccgcggggcacctccctggcca c.*1560
. . . . . . g.77936
cacgcctgttcccagcaagtgctgaaactcactagaccgtctgcctgtttcgaaatgggg c.*1620
. . . . . . g.77996
aaagccgtgcgtgcgcgttatttatttaagtgcgcctgtgtgcgcgggtgtgggagcaca c.*1680
. . . . . . g.78056
ctttgcaaagccacagcgtttctggttttgggtgtacagtcttgtgtgcctggcgagaag c.*1740
. . . . . . g.78116
aatattttctatttttttaagtcatttcatgtttctgtctggggaaggcaagttagttaa c.*1800
. . . . . . g.78176
gtatcactgatgtgggttgagaccagcactctgtgaaaccttgaaatgagaagtaaaggc c.*1860
. . . . . . g.78236
agatgaaaagaaagaaaaagcctttttatgttcttttatgttctcggctcaaaaagaaac c.*1920
. . . . . . g.78296
aagggagtgtaggtttaaaaccaaaacaggagagaagacaaaccccgctccggctggagt c.*1980
. . . . . . g.78356
tagttagaaccagaactttattgtagcggatacactttctgacctatcatgagtatacac c.*2040
. . g.78384
atctgcgaagggaaaccgcgcggcgaca c.*2068
(downstream sequence)
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