(used for variant description)
(last modified January 10, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_012193.3 in the FZD4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011752.1, covering FZD4 transcript NM_012193.3.
(upstream sequence)
. g.5006
ggtgagagctgcg c.-301
. . . . . . g.5066
cagcgctggctgctggctggcctcgcggagacgccgaacggacgcggccggcgccggctt c.-241
. . . . . . g.5126
gtgggctcgccgcctgcagccatgaccctcgcagcctgtccctcggcctcggcccgggac c.-181
. . . . . . g.5186
gtctaaaatcccacacagtcgcgcgcagctgctggagagccggccgctgccccctcgtcg c.-121
. . . . . . g.5246
ccgcatcacactcccgtcccgggagctgggagcagcgcgggcagccggcgcccccgtgca c.-61
. . . . . . g.5306
aactgggggtgtctgccagagcagccccagccgctgccgctgctacccccgatgctggcc c.-1
. . . . . . g.5366
ATGGCCTGGCGGGGCGCAGGGCCGAGCGTCCCGGGGGCGCCCGGGGGCGTCGGTCTCAGT c.60
M A W R G A G P S V P G A P G G V G L S p.20
. . . . . . g.5426
CTGGGGTTGCTCCTGCAGTTGCTGCTGCTCCTGGGGCCGGCGCGGGGCTTCGGGGACGAG c.120
L G L L L Q L L L L L G P A R G F G D E p.40
. . . . . . g.5486
GAAGAGCGGCGCTGCGACCCCATCCGCATCTCCATGTGCCAGAACCTCGGCTACAACGTG c.180
E E R R C D P I R I S M C Q N L G Y N V p.60
. . . . . . g.5546
ACCAAGATGCCCAACCTGGTTGGGCACGAGCTGCAGACGGACGCCGAGCTGCAGCTGACA c.240
T K M P N L V G H E L Q T D A E L Q L T p.80
. . . . | 02 . . g.7936
ACTTTCACACCGCTCATCCAGTACGGCTGCTCCAGCCAGCTGCAG | TTCTTCCTTTGTTCT c.300
T F T P L I Q Y G C S S Q L Q | F F L C S p.100
. . . . . . g.7996
GTTTATGTGCCAATGTGCACAGAGAAGATCAACATCCCCATTGGCCCATGCGGCGGCATG c.360
V Y V P M C T E K I N I P I G P C G G M p.120
. . . . . . g.8056
TGTCTTTCAGTCAAGAGACGCTGTGAACCCGTCCTGAAGGAATTTGGATTTGCCTGGCCA c.420
C L S V K R R C E P V L K E F G F A W P p.140
. . . . . . g.8116
GAGAGTCTGAACTGCAGCAAATTCCCACCACAGAACGACCACAACCACATGTGCATGGAA c.480
E S L N C S K F P P Q N D H N H M C M E p.160
. . . . . . g.8176
GGGCCAGGTGATGAAGAGGTGCCCTTACCTCACAAAACCCCCATCCAGCCTGGGGAAGAG c.540
G P G D E E V P L P H K T P I Q P G E E p.180
. . . . . . g.8236
TGTCACTCTGTGGGAACCAATTCTGATCAGTACATCTGGGTGAAAAGGAGCCTGAACTGT c.600
C H S V G T N S D Q Y I W V K R S L N C p.200
. . . . . . g.8296
GTGCTCAAGTGTGGCTATGATGCTGGCTTATACAGCCGCTCAGCCAAGGAGTTCACTGAT c.660
V L K C G Y D A G L Y S R S A K E F T D p.220
. . . . . . g.8356
ATCTGGATGGCTGTGTGGGCCAGCCTGTGTTTCATCTCCACTGCCTTCACAGTACTGACC c.720
I W M A V W A S L C F I S T A F T V L T p.240
. . . . . . g.8416
TTCCTGATCGATTCTTCTAGGTTTTCCTACCCTGAGCGCCCCATCATATTTCTCAGTATG c.780
F L I D S S R F S Y P E R P I I F L S M p.260
. . . . . . g.8476
TGCTATAATATTTATAGCATTGCTTATATTGTCAGGCTGACTGTAGGCCGGGAAAGGATA c.840
C Y N I Y S I A Y I V R L T V G R E R I p.280
. . . . . . g.8536
TCCTGTGATTTTGAAGAGGCAGCAGAACCTGTTCTCATCCAAGAAGGACTTAAGAACACA c.900
S C D F E E A A E P V L I Q E G L K N T p.300
. . . . . . g.8596
GGATGTGCAATAATTTTCTTGCTGATGTACTTTTTTGGAATGGCCAGCTCCATTTGGTGG c.960
G C A I I F L L M Y F F G M A S S I W W p.320
. . . . . . g.8656
GTTATTCTGACACTCACTTGGTTTTTGGCAGCAGGACTCAAATGGGGTCATGAAGCCATT c.1020
V I L T L T W F L A A G L K W G H E A I p.340
. . . . . . g.8716
GAAATGCACAGCTCTTATTTCCACATTGCAGCCTGGGCCATCCCCGCAGTGAAAACCATT c.1080
E M H S S Y F H I A A W A I P A V K T I p.360
. . . . . . g.8776
GTCATCTTGATTATGAGACTGGTGGATGCAGATGAACTGACTGGCTTGTGCTATGTTGGA c.1140
V I L I M R L V D A D E L T G L C Y V G p.380
. . . . . . g.8836
AACCAAAATCTCGATGCCCTCACCGGGTTCGTGGTGGCTCCCCTCTTTACTTATTTGGTC c.1200
N Q N L D A L T G F V V A P L F T Y L V p.400
. . . . . . g.8896
ATTGGAACTTTGTTCATTGCTGCAGGTTTGGTGGCCTTGTTCAAAATTCGGTCAAATCTT c.1260
I G T L F I A A G L V A L F K I R S N L p.420
. . . . . . g.8956
CAAAAGGATGGGACAAAGACAGACAAGTTAGAAAGACTGATGGTCAAGATTGGGGTGTTC c.1320
Q K D G T K T D K L E R L M V K I G V F p.440
. . . . . . g.9016
TCAGTACTGTACACAGTTCCTGCAACGTGTGTGATTGCCTGTTATTTTTATGAAATCTCC c.1380
S V L Y T V P A T C V I A C Y F Y E I S p.460
. . . . . . g.9076
AACTGGGCACTTTTTCGGTATTCTGCAGATGATTCCAACATGGCTGTTGAAATGTTGAAA c.1440
N W A L F R Y S A D D S N M A V E M L K p.480
. . . . . . g.9136
ATTTTTATGTCTTTGTTGGTGGGCATCACTTCAGGCATGTGGATTTGGTCTGCCAAAACT c.1500
I F M S L L V G I T S G M W I W S A K T p.500
. . . . . . g.9196
CTTCACACGTGGCAGAAGTGTTCCAACAGATTGGTGAATTCTGGAAAGGTAAAGAGAGAG c.1560
L H T W Q K C S N R L V N S G K V K R E p.520
. . . . . g.9250
AAGAGAGGAAATGGTTGGGTGAAGCCTGGAAAAGGCAGTGAGACTGTGGTATAA c.1614
K R G N G W V K P G K G S E T V V X p.537
. . . . . . g.9310
ggctagtcagcctccatgctttcttcattttgaaggggggaatgccagcattttggagga c.*60
. . . . . . g.9370
aattctactaaaagttttatgcagtgaatctcagtttgaacaaactagcaacaattaagt c.*120
. . . . . . g.9430
gacccccgtcaacccactgcctcccaccccgaccccagcatcaaaaaaccaatgattttg c.*180
. . . . . . g.9490
ctgcagactttggaatgatccaaaatggaaaagccagttagaggctttcaaagctgtgaa c.*240
. . . . . . g.9550
aaatcaaaacgttgatcactttagcaggttgcagcttggagcgtggaggtcctgcctaga c.*300
. . . . . . g.9610
ttccaggaagtccagggcgatactgttttcccctgcagggtgggatttgagctgtgagtt c.*360
. . . . . . g.9670
ggtaactagcagggagaaatattaacttttttaaccctttaccattttaaatactaactg c.*420
. . . . . . g.9730
ggtctttcagatagcaaagcaatctataaacactggaaacgctgggttcagaaaagtgtt c.*480
. . . . . . g.9790
acaagagttttatagtttggctgatgtaacataaacatcttctgtggtgcgctgtctgct c.*540
. . . . . . g.9850
gtttagaactttgtggactgcactcccaagaagtggtgttagaatctttcagtgcctttg c.*600
. . . . . . g.9910
tcataaaacagttatttgaacaaacaaaagtactgtactcacacacataaggtatccagt c.*660
. . . . . . g.9970
ggatttttcttctctgtcttcctctcttaaatttcaacatctctcttcttggctgctgct c.*720
. . . . . . g.10030
gttttcttcattttatgttaatgactcaaaaaaggtatttttatagaatttttgtactgc c.*780
. . . . . . g.10090
agcatgcttaaagaggggaaaaggaagggtgattcactttctgacaatcacttaattcag c.*840
. . . . . . g.10150
aggaaaatgagatttactaagttgacttacctgacggaccccagagacctattgcattga c.*900
. . . . . . g.10210
gcagtggggacttaatatattttacttgtgtgattgcatctatgcagacgccagtctgga c.*960
. . . . . . g.10270
agagctgaaatgttaagtttcttggcaactttgcattcacacagattagctgtgtaattt c.*1020
. . . . . . g.10330
ttgtgtgtcaattacaattaaaagcacattgttggaccatgacatagtatactcaactga c.*1080
. . . . . . g.10390
ctttaaaactatggtcaacttcaacttgcattctcagaatgatagtgcctttaaaaattt c.*1140
. . . . . . g.10450
ttttattttttaaagcataagaatgttatcagaatctggtctacttaggacaatggagac c.*1200
. . . . . . g.10510
tttttcagttttataaagggaactgaggacagctaatccaactacttggtgcgtaattgt c.*1260
. . . . . . g.10570
ttcctagtaattggcaaaggctccttgtaagatttcactggaggcagtgtggcctggagt c.*1320
. . . . . . g.10630
atttatatggtgcttaatgaatctccagaatgccagccagaagcctgattggttagtagg c.*1380
. . . . . . g.10690
gaataaagtgtagaccatatgaaatgaactgcaaactctaatagcccaggtcttaattgc c.*1440
. . . . . . g.10750
ctttagcagaggtatccaaagcttttaaaatttatgcatacgttcttcacaagggggtac c.*1500
. . . . . . g.10810
ccccagcagcctctcgaaaattgcacttctcttaaaactgtaactggcctttctcttacc c.*1560
. . . . . . g.10870
ttgccttaggccttctaatcatgagatcttggggacaaattgactatgtcacaggttgct c.*1620
. . . . . . g.10930
ctccttgtaactcatacctgtctgcttcagcaactgctttgcaatgacatttatttatta c.*1680
. . . . . . g.10990
attcatgccttaaaaaaataggaagggaagcttttttttttctttttttttttttcaatc c.*1740
. . . . . . g.11050
acactttgtggaaaaacatttccagggactcaaaattccaaaaaggtggtcaaattctgg c.*1800
. . . . . . g.11110
aagtaagcatttcctcttttttaaaaatttggtttgagccttatgcccatagtttgacat c.*1860
. . . . . . g.11170
ttccctttcttctttcctttttgtttttgtgtggttcttgagctctctgacatcaagatg c.*1920
. . . . . . g.11230
catgtaaagtcgattgtatgttttggaaggcaaagtcttggcttttgagactgaagttaa c.*1980
. . . . . . g.11290
gtgggcacaggtggcccctgctgctgtgcccagtctgagtaccttggctagactctaggt c.*2040
. . . . . . g.11350
caggctccaggagcatgagaattgatccccagaagaaccattttaactccatctgatact c.*2100
. . . . . . g.11410
ccattgcctatgaaatgtaaaatgtgaactccctgtgctgcttgtagacagttcccataa c.*2160
. . . . . . g.11470
ctgtccacggccctggagcacgcacccaggggcagagcctgcccttactcacgctctgct c.*2220
. . . . . . g.11530
ctggtgtcttgggagttgtgcagggactctggcccaggcaggggaaggaagaccaggcgg c.*2280
. . . . . . g.11590
taggggactggtcttgctgttagagtatagaggtttgtaatgcagttttcttcataatgt c.*2340
. . . . . . g.11650
gtcagtgattgtgtgaccaaggcagcatctagcagaaagccaggcatggagtaggtgatc c.*2400
. . . . . . g.11710
gatacttgtcaatgactaaataataacaataaaagagcacttgggtgaatctgggcacct c.*2460
. . . . . . g.11770
gatttctgagttttgagttctggagctagtgttttgacaatgctttgggttttgacatgc c.*2520
. . . . . . g.11830
cttttccacaaatctcttgccttttcagggcaaagtgtatttgatcagaagtggccattt c.*2580
. . . . . . g.11890
ggattagtagccttagcaatgctacagggttataggcctctcctttcacattccagacaa c.*2640
. . . . . . g.11950
tggagagtgtttatggtttcaggaaaagaactttgtggctgaggggtcagttaccagtga c.*2700
. . . . . . g.12010
ccttcaatcaactccatcacttcttaaatcggtatttgttaaaaaaatcagttattttat c.*2760
. . . . . . g.12070
ttattgagtgccgactgtagtaaagccctgaaatagataatctctgttcttctaactgat c.*2820
. . . . . . g.12130
ctaggatggggacgcacccaggtctgctgaactttactgttcctctgggaaaggagcagg c.*2880
. . . . . . g.12190
gacctctggaattcccatctgtttcactgtctccattccataaatctcttcctgtgtgag c.*2940
. . . . . . g.12250
ccaccacacccagcctgggtctctctacttttaacacatctctcatccctttcccaggat c.*3000
. . . . . . g.12310
tccttccaagtcagttacaggtggttttaacagaaagcatcagctctgcttcgtgacagt c.*3060
. . . . . . g.12370
ctctggagaaatcccttaggaagactatgagagtaggccacaaggacatgggcccacaca c.*3120
. . . . . . g.12430
tctgctttggctttgccggcaattcagggcttggggtattccatgtgacttgtataggta c.*3180
. . . . . . g.12490
tatttgaggacagcatcttgctagagaaaaggtgagggttgtttttctttctctgaaacc c.*3240
. . . . . . g.12550
tacagtaaatgggtatgattgtagcttcctcagaaatcccttggcctccagagattaaac c.*3300
. . . . . . g.12610
atggtgcaatggcacctctgtccaacctcctttctggtagattcctttctcctgcttcat c.*3360
. . . . . . g.12670
ataggccaaacctcagggcaagggaacatgggggtagagtggtgctggccagaaccatct c.*3420
. . . . . . g.12730
gcttgagctacttggttgattcatatcctctttcctttatggagacccatttcctgatct c.*3480
. . . . . . g.12790
ctgagactgttgctgaactggcaacttacttgggcctgaaactggagaaggggtgacatt c.*3540
. . . . . . g.12850
tttttaatttcagagatgctttctgattttcctctcccaggtcactgtctcacctgcact c.*3600
. . . . . . g.12910
ctccaaactcaggttccgggaagcttgtgtgtctagatactgaattgagattctgttcag c.*3660
. . . . . . g.12970
caccttttagctctatactctctggctcccctcatcctcatggtcactgaattaaatgct c.*3720
. . . . . . g.13030
tattgtattgagaaccaagatgggacctgaggacacaaagatgagctcaacagtctcagc c.*3780
. . . . . . g.13090
cctagaggaatagactcagggatttcaccaggtcggtgcagtatttgatttctggtgagg c.*3840
. . . . . . g.13150
tgaccacagctgcagttagggaagggagccattgagcacagactttggaaggaacctttt c.*3900
. . . . . . g.13210
ttttgttgtttgtttgtttgtttgtttgtttgtttgtttgagacagggtcttgctctgtc c.*3960
. . . . . . g.13270
acccaggctggggcgcaatggcacgatcttggctcactgcaacctctgcctcctgggttc c.*4020
. . . . . . g.13330
aagtgattctcctgccacagcctcctgaggagctgggactacaggtgcgtgctaccacgc c.*4080
. . . . . . g.13390
ccagctacttctgtatttttagtagagacggggtttcactgtgttggccaggctggtctc c.*4140
. . . . . . g.13450
gaactcctgacctcatgatctgcccgcctcagcctcccaaagtgctgggattacaagtgt c.*4200
. . . . . . g.13510
gagccaccacacctggcctggaaggaacctcttaaaatcagtttacgtcttgtattttgt c.*4260
. . . . . . g.13570
tctgtgatggaggacactggagagagttgctattccagtcaatcatgtcgagtcactgga c.*4320
. . . . . . g.13630
ctctgaaaatcctattggttcctttattttatttgagtttagagttcccttctgggtttg c.*4380
. . . . . . g.13690
tattatgtctggcaaatgacctgggttatcacttttcctccagggttagatcatagatct c.*4440
. . . . . . g.13750
tggaaactccttagagagcattttgctcctaccaaggatcagatactggagccccacata c.*4500
. . . . . . g.13810
atagatttcatttcactctagcctacatagagctttctgttgctgtctcttgccatgcac c.*4560
. . . . . . g.13870
ttgtgcggtgattacacacttgacagtaccaggagacaaatgacttacagatcccccgac c.*4620
. . . . . . g.13930
atgcctcttccccttggcaagctcagttgccctgatagtagcatgtttctgtttctgatg c.*4680
. . . . . . g.13990
taccttttttctcttcttctttgcatcagccaattcccagaatttccccaggcaatttgt c.*4740
. . . . . . g.14050
agaggacctttttggggtcctatatgagccatgtcctcaaagcttttaaacctccttgct c.*4800
. . . . . . g.14110
ctcctacaatattcagtacatgaccactgtcatcctagaaggcttctgaaaagaggggca c.*4860
. . . . . . g.14170
agagccactctgcgccacaaaggttgggtccatcttctctccgaggttgtgaaagttttc c.*4920
. . . . . . g.14230
aaattgtactaataggctggggccctgacttggctgtgggctttgggaggggtaagctgc c.*4980
. . . . . . g.14290
tttctagatctctcccagtgaggcatggaggtgtttctgaattttgtctacctcacaggg c.*5040
. . . . . . g.14350
atgttgtgaggcttgaaaaggtcaaaaaatgatggccccttgagctctttgtaagaaagg c.*5100
. . . . . . g.14410
tagatgaaatatcggatgtaatctgaaaaaaagataaaatgtgacttcccctgctctgtg c.*5160
. . . . . . g.14470
cagcagtcgggctggatgctctgtggcctttcttgggtcctcatgccaccccacagctcc c.*5220
. . . . . . g.14530
aggaaccttgaagccaatctgggggactttcagatgtttgacaaagaggtaccaggcaaa c.*5280
. . . . . . g.14590
cttcctgctacacatgccctgaatgaattgctaaatttcaaaggaaatggaccctgcttt c.*5340
. . . . . . g.14650
taaggatgtacaaaagtatgtctgcatcgatgtctgtactgtaaatttctaatttatcac c.*5400
. . . . . . g.14710
tgtacaaagaaaaccccttgctatttaattttgtattaaaggaaaataaagttttgtttg c.*5460
g.14717
ttaggtt c.*5467
(downstream sequence)
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