(used for variant description)
(last modified March 18, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_178335.2 in the CCDC50 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008994.1, covering CCDC50 transcript NM_178335.2.
(upstream sequence)
. . . . . g.5050
ggaaagactatgttttaggtgacccgtgtggcctttttgttgaggccttt c.-541
. . . . . . g.5110
aggatacaaggcccccacctaaagacgcgaccctcccgtaggaggggggcagggcccggg c.-481
. . . . . . g.5170
ggcgggagcacagcggggccccagcctcaggcggcgcgtcactgagcacaaaggagacaa c.-421
. . . . . . g.5230
cagcgaggcggcagcgggcgctgatcttcgctcgccagccactcgcaattgcggttacag c.-361
. . . . . . g.5290
acctgcagctccccctcccccagccggcccgcccgcctttctgtctcctctctccctccg c.-301
. . . . . . g.5350
tactggacggccccggtccatttccgggctccggatatttggtatcgattggggccgggg c.-241
. . . . . . g.5410
acgcggagcaggtggccgcggcggggcagctgggccgccagcttggtgcctcggggaccg c.-181
. . . . . . g.5470
tctcccgctgctttggtcaccagcccctgcccgcccgacccgctccgttctccggcctgc c.-121
. . . . . . g.5530
gagccctgccggccggactttgcgccgcgtccggcgctgctgctgcgctcggggccccgc c.-61
. . . . . . g.5590
tcggcgccggcggtgaccgggaagcccgcgttaaaggggcaaccgggaccctggcccggt c.-1
. . . . | 02 . g.33014
ATGGCTGAAGTCAGCATCGACCAGTCCAAGCTGCCTGGAGTCAAGGAAG | TATGCCGAGAT c.60
M A E V S I D Q S K L P G V K E V | C R D p.20
. . . . . | 03 . g.33921
TTTGCTGTCCTGGAGGACCACACCCTGGCTCACAGCCTGCAGGAACAAGAGA | TTGAGCAT c.120
F A V L E D H T L A H S L Q E Q E I | E H p.40
. . . . . . g.33981
CATTTGGCATCGAACGTTCAGCGGAACCGTTTGGTCCAGCATGATCTCCAGGTGGCTAAG c.180
H L A S N V Q R N R L V Q H D L Q V A K p.60
. . . . . | 04 g.36985
CAGCTCCAAGAGGAAGATCTGAAAGCGCAGGCCCAGCTCCAGAAGCGCTACAAAGACCT | T c.240
Q L Q E E D L K A Q A Q L Q K R Y K D L | p.80
. . . . . . g.37045
GAACAACAAGACTGTGAAATTGCTCAGGAAATTCAGGAGAAGCTGGCTATTGAGGCAGAG c.300
E Q Q D C E I A Q E I Q E K L A I E A E p.100
. . . | 05 . . . g.45864
AGACGACGCATTCAGGAGAAGAAGGATGAG | GACATAGCTCGCCTTTTGCAAGAAAAGGAG c.360
R R R I Q E K K D E | D I A R L L Q E K E p.120
. . . . . . g.45924
TTACAGGAAGAGAAAAAGAGAAAGAAACACTTTCCAGAGTTCCCTGCAACCCGTGCTTAT c.420
L Q E E K K R K K H F P E F P A T R A Y p.140
. . | 06 . . . g.51009
GCAGATAGTTACTATTATGAAGATGGAG | ACCAACCAGGGTCAAGGAGGGCCAGGGAATTG c.480
A D S Y Y Y E D G D | Q P G S R R A R E L p.160
. . . . . . g.51069
GGTTCTGGATTCTCAAGACCTTGTAGACTCCAAAGAGATGGAAAGACTGTGAAGCACAAG c.540
G S G F S R P C R L Q R D G K T V K H K p.180
. . . . . . g.51129
AAAGAGAAACCAGAACATCCACTGGAGAACTTGGAAGAGCCAGAACAACATTGTTCATCG c.600
K E K P E H P L E N L E E P E Q H C S S p.200
. . . . . . g.51189
AAGAGATCCCTGTCATCCTCTAGCTCGGGCAAAGGGAGGGACAATCCCCATATTAACAAT c.660
K R S L S S S S S G K G R D N P H I N N p.220
. . . . . . g.51249
GAGCAGCATGAAAGGAAACGGTCCACTCAGGAGAGGCCTCGGAGACCTCTGCTTCCCACG c.720
E Q H E R K R S T Q E R P R R P L L P T p.240
. . . . . . g.51309
ATCAGTGGTGAAGTGTTTCTGAGCACTGAATGTGATGACTGGGAGACTAAGATTAACCAT c.780
I S G E V F L S T E C D D W E T K I N H p.260
. . . . . . g.51369
CAGACTCGAAATTGGGAAAAACAGTCTCGACACCAAGATCGACTTTCACCCAAGTCCTCA c.840
Q T R N W E K Q S R H Q D R L S P K S S p.280
. . . . . . g.51429
CAAAAAGCAGGGCTTCACTGCAAGGAAGTTGTATATGGGAGGGACCATGGGCAAGGTGAG c.900
Q K A G L H C K E V V Y G R D H G Q G E p.300
. . . . . . g.51489
CACAGAAAAAGGAGACACAGGCCCAGGACTCCTCCATTCTCAGAGAGTGAGGAGCAGCTC c.960
H R K R R H R P R T P P F S E S E E Q L p.320
. | 07 . . . . . g.56118
CACCTCCATGACGCAG | GAATGAAGCCAAGAGTGATGAAAGAAGCTGTATCTACTCCATCA c.1020
H L H D A G | M K P R V M K E A V S T P S p.340
. . . . . . g.56178
CGAATGGCCCACAGGGATCAGGAATGGTATGATGCTGAAATTGCCAGAAAACTGCAAGAA c.1080
R M A H R D Q E W Y D A E I A R K L Q E p.360
. | 08 . . . . | 09. g.56746
GAAGAACTTTTG | GCTACCCAGGTGGACATGAGAGCCGCTCAAGTAGCTCAAGATGAA | GAA c.1140
E E L L | A T Q V D M R A A Q V A Q D E | E p.380
. . . . . . g.56806
ATCGCTCGACTTCTAATGGCTGAAGAAAAGAAAGCTTACAAAAAAGCCAAGGAGCGGGAG c.1200
I A R L L M A E E K K A Y K K A K E R E p.400
. . . . | 10 . . g.58679
AAATCATCTTTGGACAAAAGAAAGCAAGACCCCGAGTGGAAG | CCAAAAACAGCTAAAGCA c.1260
K S S L D K R K Q D P E W K | P K T A K A p.420
. . . . . . g.58739
GCAAATTCCAAGTCAAAAGAGAGTGATGAACCTCACCATTCTAAGAATGAAAGGCCAGCA c.1320
A N S K S K E S D E P H H S K N E R P A p.440
| 11 . . . . . . g.65469
CG | GCCACCACCACCTATCATGACAGATGGTGAAGATGCGGATTACACTCATTTTACAAAC c.1380
R | P P P P I M T D G E D A D Y T H F T N p.460
. . . . | 12 . g.67667
CAGCAGAGTTCCACACGGCATTTCTCAAAATCAGAGTCCTCTCATAAAG | GTTTTCATTAC c.1440
Q Q S S T R H F S K S E S S H K G | F H Y p.480
g.67676
AAACATTAA c.1449
K H X p.482
. . . . . . g.67736
aaacctaggaatctgccttgaaaatggactcactatagcaaatattactgggtgatacag c.*60
. . . . . . g.67796
aatgaattctacacttactttttttctcctgtgtttgcattcctgggatttatcctcaag c.*120
. . . . . . g.67856
tgcatttctgaccataagtaattttaattcatttcaaatgttttggttattcatgatcac c.*180
. . . . . . g.67916
ttgggcagtataagaaaatgtagcttctgaatattggccacctctatgctgcatatactt c.*240
. . . . . . g.67976
cttgggatatagtatctaagacctttgtaaactgccattttgttaggtatggagtttggt c.*300
. . . . . . g.68036
atctagggagtaggccttatttagcaattcaaattttatggagatgaatgatcaaagtga c.*360
. . . . . . g.68096
aacaatgtttggatgcaacgcagaataaaagaatataagaaatagctttttgttgcatta c.*420
. . . . . . g.68156
atgtatgatattttgaaggacagagcctttgctttttgtattctttaagaaaagcacaac c.*480
. . . . . . g.68216
cataaagtattttaaaaaaagaaacacttggagcaattgaaatatgttattctgactaga c.*540
. . . . . . g.68276
tggactgtagaggttttgcatttctcagccctcctggggagattggcctagatagcattc c.*600
. . . . . . g.68336
tttaacacttcctctgcttttgcctcagtagcaaggctttcctaagctcctgggcaatgg c.*660
. . . . . . g.68396
aacatttattagtatttattgacaaaaatttagttctctgaaattttaactcatatatat c.*720
. . . . . . g.68456
gaaaaactttgtattccatctcttctttttcatttacttgtagagccaaggaaatggaat c.*780
. . . . . . g.68516
tgaaagatgattgcataagtaatgatgccatccttctctctggctgtagactgaggcttt c.*840
. . . . . . g.68576
tctcttgcttcaagtcagagcagtatttgttgataacctctcaataatgtttggtttaca c.*900
. . . . . . g.68636
tgccagtaattaaattaattcaacatgaagttgaatttgatgaagtggtcatctatccaa c.*960
. . . . . . g.68696
gtatttggtttttgttttgttttgttttgttttttgagttggagtctcgccctgtcacac c.*1020
. . . . . . g.68756
aggctggagtgcagtggtgcaatcttggctcactgcaacctccgccacctgggctggagc c.*1080
. . . . . . g.68816
aattcccctgcctcagcctcccaagtagctggaattacaggcatgtgtcaccacacccgg c.*1140
. . . . . . g.68876
ctaatttttgtatttttagtaaagagcgggtttcaccatgttggccaggctggtctcgaa c.*1200
. . . . . . g.68936
cccctgacctcaagtgatccacctgccttggcctcccaaggtgctgggattacaggctta c.*1260
. . . . . . g.68996
agccaccatgtccagccagccaagtatttggttttaaacatttgtattcctttgtgcaag c.*1320
. . . . . . g.69056
ggattgtattcctctgtacaagacctttaagcacctcttcaagaaatttagtctttgtgt c.*1380
. . . . . . g.69116
agctgctaaccttactgcaatatttattttcccttattttcccatactacttagttgaca c.*1440
. . . . . . g.69176
aatggcaatcaagctcacttgttctccctctctctgtctcccccccatgtacacatatat c.*1500
. . . . . . g.69236
atatcccttcagcttgacttgctattatttttcattgtataaatatgaaattcttggcat c.*1560
. . . . . . g.69296
ttcaatatggcatttgtttagggaaaaaatatgtaggtcactagagaaaaatgttaattt c.*1620
. . . . . . g.69356
ttttcccactgtgaattgccttctgtttgccttatcttttcagatagtctttaaagttgg c.*1680
. . . . . . g.69416
gcaatattcaggcagctatttagaacagtttctcagagtggatttgggtctctcatttga c.*1740
. . . . . . g.69476
gaaagatttgtagtttcaatgaagtttgtatattataggaatttaagtaaaatcatctga c.*1800
. . . . . . g.69536
gttaagttttgggcaaatgttaatcagaaagataatctacatccctactttatgtagtca c.*1860
. . . . . . g.69596
ttttggagaaatggaggaaaaggaaaataacaggactttttatagctgtgataaaatggg c.*1920
. . . . . . g.69656
taaagaaaaacctccatttaaataaggaaggggagacaaaatggaaggtcctggccttaa c.*1980
. . . . . . g.69716
gtcaaattccagatagtgctttcaatatccaaagcttaggccttgtttacttatagtaat c.*2040
. . . . . . g.69776
gctatatttttctttatctgccctgtgatttcgcttcgtgtccttcaaagtttttttatt c.*2100
. . . . . . g.69836
gtaattttaaaggaaaaaaacaatgtatttttatttgataactaggcaaaatcatttgcc c.*2160
. . . . . . g.69896
attttttatttcataaatatttatttttctatctcatacaatgatcagttttactttaaa c.*2220
. . . . . . g.69956
aattctgcatttctcttgcctctcatgtacttcatccagttatttattattgtaaaatgt c.*2280
. . . . . . g.70016
taactggagatactgcattcaaaaaaaagtcggaccacttaacacttaccaggaatgtta c.*2340
. . . . . . g.70076
gtgtttcagctgttttagtaagtgaccaagtaagctatcaccttgtgatagctaattcaa c.*2400
. . . . . . g.70136
catctttattgaaaatttgttactttttttaaaggtttttaaaagattacaattttaaaa c.*2460
. . . . . . g.70196
tattttatgtttattttatttttgtgtaaagcaaacacttttaaaataatatcagagtaa c.*2520
. . . . . . g.70256
ttattaccctatgaataaggagatagaaatgaaattcagccagttaaatcctcatactct c.*2580
. . . . . . g.70316
ttctcattcaaataatataataatgtttgagactatagaagcaactcaactgtattttaa c.*2640
. . . . . . g.70376
tgaactgccagacacttttcactgtgttctctgctttttactttgtcatttttatataaa c.*2700
. . . . . . g.70436
tgtgaaagcattttgttgttgttgttgttgttcctgctgctagaacacatgcagtttaat c.*2760
. . . . . . g.70496
ttttaggcccacagtgtattatgctttaatgttgtgatgtaaactaatacttctggcctg c.*2820
. . . . . . g.70556
ggaaaacctttctgtttctgtatctttgtcctttggaggccaggcctcattaacaccagt c.*2880
. . . . . . g.70616
attgttgaataagcacaatatatgacggagccttatcataaggctgcttgacatagacac c.*2940
. . . . . . g.70676
ccactctcctccacattttataaatcattgtttggaagtaaagttagataagagtcaaat c.*3000
. . . . . . g.70736
taaatgttttgacttgaaaaatatttgacttttgcgttcaaaccactgttagacgtaagt c.*3060
. . . . . . g.70796
attttattagacataagtattttattttgggactagacagttgctttacatgtatttaag c.*3120
. . . . . . g.70856
ggaacattgtgattttcagaaagtggctttacatactattgaattgctatttcccaagtt c.*3180
. . . . . . g.70916
actttacaaccagcagcagcataccaataaattacaaaagcagaaaatgaaaattaaccc c.*3240
. . . . . . g.70976
taggtgttctgatgatagagaaatagctaaattagaaaagaaagatatggatagatgctt c.*3300
. . . . . . g.71036
ttaggaggaaaacctttttagaatggcaatgaccacttggatctaggtcaacatattcca c.*3360
. . . . . . g.71096
aaatgtgtgaccttgggctttgtgtttactgaactcactctagaaaattctggacctgat c.*3420
. . . . . . g.71156
tcattaaccccgcttttcttctctaatgtgtcctgaagctgagctagatgatgagtaaat c.*3480
. . . . . . g.71216
tctttgctgactgttgctcatcactttctctcaaagttagaacttttcagtataaaaata c.*3540
. . . . . . g.71276
attagcttttaactgattattaattttctttaatagtttctgtcaaaacttgtctaaaat c.*3600
. . . . . . g.71336
ttgtgttgtgccaaattggaaatacccactataatatggtgcattcagtttactccacaa c.*3660
. . . . . . g.71396
gtggttaacattttaagtcctagattttttatgtcttgcctttgtataagcatcgctttg c.*3720
. . . . . . g.71456
gggaataccaagatgattcattattcagtgattattttcttgaaagataactatgatgat c.*3780
. . . . . . g.71516
tggctgtaaaatcttcaccctaataaaggagtgagatctctgtgtaaacagctttctgaa c.*3840
. . . . . . g.71576
ggactgataatagaatagaacttgcagccaaaggctttttcccttttgagaagacggtat c.*3900
. . . . . . g.71636
ttgtgtaaggagtgctaaggtagacttcattgtacatagagtgccatattctgttgaaac c.*3960
. . . . . . g.71696
gatcataacaaaatcaaaacctcatgcttcagcaaaaaggaaaaaagatttttaaattac c.*4020
. . . . . . g.71756
tttgtctattacttactgctcatagagaagtgactatataaaatggtccaattttctcat c.*4080
. . . . . . g.71816
ttctggtggtgcctgtgagtcttaaagccatatctgcttatcttactgttgatagaatac c.*4140
. . . . . . g.71876
tttttttctttttagcccatgataagtaatatgggcaggtagaagcaaactggagactgt c.*4200
. . . . . . g.71936
cctgttaatgctgcatggggcacaatgtctttcaaattattggtggaagaatctctttta c.*4260
. . . . . . g.71996
tccatggcgagaggtaagaatattaaagagtcaggatattgttgctcctggtatttaaca c.*4320
. . . . . . g.72056
actgtcattagaaatgctgaaatttaattgtagagaagtcaagaaagaaagagtaaactg c.*4380
. . . . . . g.72116
agaaaatcttactactacagagtcacttttacaatgagacctgcactttatgccagcact c.*4440
. . . . . . g.72176
gtttgtgaggagcagtactgccttaaattagtttgactctgactgatgtcagtgtacgtt c.*4500
. . . . . . g.72236
acttcctttatgtgactgacagtcagctttccattgagatataacattcacagatgatcc c.*4560
. . . . . . g.72296
ccaagtatccttgtcatcagaagctttggaccttttctgccactgacttgtggctgatct c.*4620
. . . . . . g.72356
gtaacacaataaatacataattttatttcatgttgtctgtccacctctgaataagcagtg c.*4680
. . . . . . g.72416
gcatgaccaaaaagactggtagaaggagagaatttcttggccaaatccttcataccaggt c.*4740
. . . . . . g.72476
accacttcttgagtaactgagagttgactgtcttctatggtgactacatagaagatattt c.*4800
. . . . . . g.72536
ccaaaggttctgttatgcagtgaagacattcagattatttgtaagaatttcaccaacacc c.*4860
. . . . . . g.72596
cttgtgtattgaaatgcttaaccattaacagggaaaaaaaaggagaaaaccgaacaaaac c.*4920
. . . . . . g.72656
agagacatttacttgaaatgggaggtttgctaatgtgaagagtgtttctgttttattact c.*4980
. . . . . . g.72716
tataagagaaaagcaggaaaacttttgctttgataagaaagacaccagagtggtgattct c.*5040
. . . . . . g.72776
gtttgatgccacaggctaacacaatcgtgtaatcatgttgagttgtagaaatatatggcc c.*5100
. . . . . . g.72836
ctaaaaaccattctctttcccttatatatataaatatgtgaacactgcctagtaacattt c.*5160
. . . . . . g.72896
taatagatttaagatgcatttgtacattctcagcaaactagaagaaaatgttttttctct c.*5220
. . . . . . g.72956
ttttgagttaacttcatagcatagagaaccagcactgtgcaggtttcagcatttcagata c.*5280
. . . . . . g.73016
agggcataattaattgtgtaacttaatgccctgttattcattgctgaggttcatataaag c.*5340
. . . . . . g.73076
aatagaaaaattgaaagatgggtttgggcgacattttcttcccaaaagatcaagtaagga c.*5400
. . . . . . g.73136
gtaagaacaagtaagggaagacagctaagagaacatactatgacatatcatagaattggg c.*5460
. . . . . . g.73196
atacatttttgttgcactggatttcaggctatactgctaaaataatttctacctgttaaa c.*5520
. . . . . . g.73256
ttttgtgagagggtttttgacatcagaatttttgtatttctggtcaaattggtcttggaa c.*5580
. . . . . . g.73316
atccctatggtctctaatttcagctcttgctgtaaactgcaagccaaatgctctttctca c.*5640
. . . . . . g.73376
gaaagagctatatttttctcttcttacaggcaacccaatatttatttcataaagtgttat c.*5700
. . . . . . g.73436
aaatattgagaagatacactggggagatagcatataaaaatgatgctccaaaatgagaat c.*5760
. . . . . . g.73496
tctatatggggctttccctaagaagaatccatcccagcacatattttgaaaaggtgctga c.*5820
. . . . . . g.73556
attaaaaagtacaagagtttgctcatataaatcaagttgcccaggaaacctgaggtgatg c.*5880
. . . . . . g.73616
ctatcatttgtctcataatttagaaacgtgatctcttgagagagagactacgcattgcct c.*5940
. . . . . . g.73676
gggcactttcagattccttaggaagtgcccctttgatatttggaatgtggatatatttat c.*6000
. . . . . . g.73736
aaaacaaatggattgttattccaaatccacatggatttataaccaagccccagaagaata c.*6060
. . . . . . g.73796
ggcagctttgaaatagctagttcgtggaattgaacagaaccttgatggaatgcagttgcc c.*6120
. . . . . . g.73856
tgtgtgaggacagaaaacaaagaggctgcctcagaccacatgcctatctagagattaagt c.*6180
. . . . . . g.73916
gaatttgtgagggacattttgtggatgccttaaagatgaccagtggtgggttctgatggg c.*6240
. . . . . . g.73976
aatatatacactcatctggactaggccaatggaagcagtctctttcagttcacctccgta c.*6300
. . . . . . g.74036
cagcacaagttgttcctgctcatgacctcattgaggaaaatgagaattgtggtgctggtg c.*6360
. . . . . . g.74096
actttcatgtgtcttgggaggttgaggtgttcaacatcgttaaggcactcccaaaacgca c.*6420
. . . . . . g.74156
aacctccttttttaaatgccaattgtacatctacattaattcatctatgcaaacttgtgt c.*6480
. . . . . . g.74216
tttcatggtttgttttttacactatatttctcattaggttctttaaacatcaggtttaat c.*6540
. . . . . . g.74276
attgatattatgaataatttttaaaccaaagtattctataagtctgtgtgctttgttttc c.*6600
. . . . . . g.74336
ctggatggtttgaccaaggtaaacatcagtcttgtccttctctcttaataaagtcatcca c.*6660
. . . . . . g.74396
tttgttaagtcagtggtctctgtctcatgtttttgttttgtttctttacagcattcaagg c.*6720
. . . . . . g.74456
acagggaaacttacgagagtcttattataattattattatttacaaaatgaccctaatag c.*6780
. . . . . . g.74516
gtctgtttagtaacagtgaaattttttcttactccatttccatacactttctgtaaatat c.*6840
. . . . . . g.74576
gtataacatgataatgatgcctggtgtattgaaatcctcaataaatactgccaagtgtgg c.*6900
. g.74586
atcagttgga c.*6910
(downstream sequence)
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