(used for variant description)
(last modified February 18, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_004100.4 in the EYA4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011596.1, covering EYA4 transcript NM_004100.4.
(upstream sequence)
. . . g.5038
gcaaaacttccatcctgtccacgtgaagttgtcgctgc c.-421
. . . . . . g.5098
cttagagagggggaaagagctgcgggaaaagccggggagtgacgactgcggcggctgggc c.-361
. . . . . . g.5158
gcgctctctcattttcttttcttctcctttcccccctgtcgcagtccggagttttggctc c.-301
. . . . . . g.5218
ctctcctttcctcctccccctcggagccggcttctccctccgccccgcttctcccccgct c.-241
. . . . . . g.5278
tgtgtacgctatttgttgtggggtggccgaaggggatgtcctgttttcaccagaggcaca c.-181
. . . . . . g.5338
gcgcgaaggggaaacttcgacactggaaggaacgagaataaatacttaattacggacgca c.-121
. . . . . . | 02 g.38364
ctgaaccgcggctgggacagacacttcgggaacccgaggcggaccgggcgacgag | atagt c.-61
. . . . . . g.38424
catttttacttgaaggaagctgcttctacttgggagtggcaggagaagtgagaaaaccac c.-1
. . . | 03 . . . g.146062
ATGGAAGACTCCCAGGATTTAAATGAACAATCA | GTAAAGAAAACGTGCACAGAATCAGAT c.60
M E D S Q D L N E Q S | V K K T C T E S D p.20
. . | 04 . . . . g.210310
GTTTCACAATCTCAGAATTCCAG | GTCTATGGAAATGCAGGACCTAGCAAGTCCTCATACT c.120
V S Q S Q N S R | S M E M Q D L A S P H T p.40
. . . . . . g.210370
CTTGTTGGAGGTGGTGATACTCCAGGTAGCTCCAAACTGGAAAAATCTAATCTCAGCAGC c.180
L V G G G D T P G S S K L E K S N L S S p.60
. . | 05 . . . g.211786
ACATCAGTTACTACAAATGGGACAGGAG | GGGAAAACATGACTGTTTTAAACACAGCAGAC c.240
T S V T T N G T G G | E N M T V L N T A D p.80
. . . | 06. . . g.220222
TGGTTGCTGAGTTGCAACACCCCCTCTTCTGCAACAA | TGTCTCTTCTTGCAGTCAAAACA c.300
W L L S C N T P S S A T M | S L L A V K T p.100
. . . . . . g.220282
GAGCCCTTGAACAGCAGTGAAACCACAGCCACGACTGGAGATGGAGCGCTTGACACTTTT c.360
E P L N S S E T T A T T G D G A L D T F p.120
. | 07 . . . . . g.224807
ACTGGGTCAG | TAATTACAAGTAGTGGCTACAGCCCCAGATCAGCACATCAGTATTCCCCA c.420
T G S V | I T S S G Y S P R S A H Q Y S P p.140
. | 08. . . . . g.226021
CAGCTGTATCCTTCCAA | GCCCTATCCACACATTCTTTCTACACCAGCAGCTCAAACAATG c.480
Q L Y P S K | P Y P H I L S T P A A Q T M p.160
. . . . . . g.226081
TCTGCCTATGCAGGCCAGACTCAGTATTCGGGGATGCAGCAGCCAGCCGTCTACACAGCC c.540
S A Y A G Q T Q Y S G M Q Q P A V Y T A p.180
. . . . | 09 . . g.226284
TACTCACAGACAGGACAGCCCTACAGCTTGCCCACTTACG | ATTTGGGTGTGATGTTGCCA c.600
Y S Q T G Q P Y S L P T Y D | L G V M L P p.200
. . . . . . g.226344
GCCATCAAGACAGAGAGTGGACTTTCCCAAACTCAGTCCCCATTACAGAGTGGCTGCCTC c.660
A I K T E S G L S Q T Q S P L Q S G C L p.220
. . . . . . g.226404
AGTTACAGCCCAGGGTTCTCTACCCCACAGCCAGGCCAGACACCTTATTCTTACCAAATG c.720
S Y S P G F S T P Q P G Q T P Y S Y Q M p.240
| 10 . . . . . . g.228478
CCAG | GTTCTAGTTTTGCACCATCATCTACTATTTATGCAAATAATTCAGTTTCCAATTCA c.780
P G | S S F A P S S T I Y A N N S V S N S p.260
. . | 11 . . . . g.232245
ACGAATTTCAGTGGTTCACAACAG | GATTATCCATCCTATACAGCCTTTGGCCAAAACCAG c.840
T N F S G S Q Q | D Y P S Y T A F G Q N Q p.280
. . . . . . g.232305
TATGCACAGTATTATTCAGCATCAACGTATGGAGCGTATATGACATCGAATAACACAGCC c.900
Y A Q Y Y S A S T Y G A Y M T S N N T A p.300
. . . . . . g.232365
GATGGCACACCCTCTTCAACCTCTACTTATCAGTTGCAGGAATCTCTCCCAGGACTGACT c.960
D G T P S S T S T Y Q L Q E S L P G L T p.320
. | 12 . . . . . g.245156
AACCAACCAG | GAGAGTTCGATACCATGCAGAGTCCCTCCACACCCATCAAAGATCTTGAT c.1020
N Q P G | E F D T M Q S P S T P I K D L D p.340
. . . . . . g.245216
GAGAGAACCTGTAGGAGTTCTGGGTCAAAGTCCAGAGGAAGAGGCCGGAAAAATAATCCC c.1080
E R T C R S S G S K S R G R G R K N N P p.360
. . | 13. . . . g.246708
TCCCCGCCTCCTGATAGTGACCTGGAG | CGTGTGTTTGTCTGGGATTTGGATGAAACCATC c.1140
S P P P D S D L E | R V F V W D L D E T I p.380
. . . . . | 14 . g.269758
ATTGTTTTTCACTCACTGCTCACCGGGTCTTATGCACAGAAGTATGGCAAG | GATCCCCCC c.1200
I V F H S L L T G S Y A Q K Y G K | D P P p.400
. . . . . . g.269818
ATGGCTGTAACCCTTGGACTCCGCATGGAAGAAATGATTTTTAATCTTGCTGATACTCAT c.1260
M A V T L G L R M E E M I F N L A D T H p.420
. . | 15 . . . . g.276403
TTGTTTTTTAATGATTTAGAG | GAGTGTGATCAAGTTCATATAGATGATGTTTCCTCTGAT c.1320
L F F N D L E | E C D Q V H I D D V S S D p.440
. . | 16 . . . . g.276561
GATAATGGGCAGGACTTAAG | TACCTACAGTTTTGCAACTGATGGCTTCCATGCAGCTGCA c.1380
D N G Q D L S | T Y S F A T D G F H A A A p.460
. . . . . . g.276621
AGTAGTGCAAACCTTTGTTTGCCAACAGGTGTAAGAGGAGGGGTTGACTGGATGAGGAAG c.1440
S S A N L C L P T G V R G G V D W M R K p.480
. . . . . . g.276681
TTGGCTTTTCGTTACAGAAGAGTAAAAGAATTATATAACACCTACAAGAACAACGTTGGA c.1500
L A F R Y R R V K E L Y N T Y K N N V G p.500
| 17 . . . . . . g.279023
G | GACTCCTTGGCCCTGCCAAGAGGGATGCCTGGCTACAGTTAAGGGCAGAGATTGAAGGT c.1560
G | L L G P A K R D A W L Q L R A E I E G p.520
. . . . . | 18 . g.286703
CTGACAGATTCCTGGCTAACAAATGCACTTAAGTCTTTATCAATTATTAGCACTAG | GAGT c.1620
L T D S W L T N A L K S L S I I S T R | S p.540
. . . . . . g.286763
AACTGCATAAATGTCTTGGTAACGACAACTCAACTGATCCCAGCACTTGCGAAGGTTCTA c.1680
N C I N V L V T T T Q L I P A L A K V L p.560
. . . . . | 19 g.288799
CTCTATAGTTTAGGAGGTGCTTTCCCCATTGAGAATATTTACAGTGCAACTAAAATAG | GA c.1740
L Y S L G G A F P I E N I Y S A T K I G | p.580
. . . . . . g.288859
AAAGAAAGTTGCTTTGAACGAATAATGCAAAGGTTTGGCAGAAAAGTAGTGTATGTTGTA c.1800
K E S C F E R I M Q R F G R K V V Y V V p.600
. . . | 20 . . g.292389
ATTGGGGATGGTGTAGAAGAAGAACAGGCAGCAAAAAAG | CACAACATGCCCTTCTGGAGG c.1860
I G D G V E E E Q A A K K | H N M P F W R p.620
. . . . . . g.292449
ATATCCAGTCACTCAGACCTCCTGGCTCTCCACCAAGCACTGGAATTAGAGTATTTGTAA c.1920
I S S H S D L L A L H Q A L E L E Y L X p.639
. . . . . . g.292509
ctgtgttctttagccggagatccattttttatatttcaagtacactgaatttttatgtgt c.*60
. . . . . . g.292569
gattcaatgcctctggctctacacatataaattgtcttaatggatgaaatcatatttgga c.*120
. . . . . . g.292629
ataaaaattccagaatgaagaattcagattgctgaatggagttaaactttagtgctacag c.*180
. . . . . . g.292689
aaaagaaactctatggtcttatatttacaacactttaatgggttttttaaaaatctgtgg c.*240
. . . . . . g.292749
aggttgctggtacacaccaaatgagtccaaactggaatgagcagctttagcaaagaactc c.*300
. . . . . . g.292809
ttaccctggcaaagcagcaacacacatgctccgtctgacaaggtggtcaacaacattcct c.*360
. . . . . . g.292869
caaaatgggagatcttctcagccctgaggtttgaatctgactttagcctacctaacccag c.*420
. . . . . . g.292929
aaaatctgaattggaatgcactcagactgtataaggacagtcctatttagacatgtaatt c.*480
. . . . . . g.292989
tgtgtaaattattgatgaaaataatttactgtgactttattagcagctgactttcaaagt c.*540
. . . . . . g.293049
ggatgcaatttttctttcttttgttggggaggggaatgggaggggaaatgggaatataat c.*600
. . . . . . g.293109
attgtctcttttttaagtttggcaaacagaatgttcatactgatgtgttgtgccttaaag c.*660
. . . . . . g.293169
acaagacagcatttgtgtgttacaatgtaactttggttaaaatctctgtagataatgaaa c.*720
. . . . . . g.293229
aaaaacaaaaaaaaaaacctttgtgatgattcttaacatgaccaaatttaaaagtcaagc c.*780
. . . . . . g.293289
tctcagagcttaattaccgcatcagcaagaaactgagtattttttgcaataagaaaacaa c.*840
. . . . . . g.293349
caataataaaggaaagcttgtgtttcatttgggttcttaataattccaataattgtatga c.*900
. . . . . . g.293409
ggcaactatttgcgcatccaaccatgagtggaaggtttgggaaagactgtgggaccttta c.*960
. . . . . . g.293469
cttagaaagtgaaatgtatgtagaagtctcaagtaccccttctacagttttactggagaa c.*1020
. . . . . . g.293529
aactaagagccatattcatgacaacttgcacagttttgaggttgagacttttgatatgtg c.*1080
. . . . . . g.293589
taagttgcatagaggaggatattatcatgcaaatcatgagcaattatcacataaactttt c.*1140
. . . . . . g.293649
ttagaatgtgccatgaacatggcataaaattcacattgagtgcacagggcttaaaataaa c.*1200
. . . . . . g.293709
gctaagtatgtttattcccaatgccatggcaaaaatgataatatcatcagaaatggaagg c.*1260
. . . . . . g.293769
cagttctcccagatggtgtctaatgaaagcaatgagtctatgaaaattttacctagaata c.*1320
. . . . . . g.293829
tcatcataaattaaattagcaagtgcgctggatcttggcagcgctgctgaaatgacaaca c.*1380
. . . . . . g.293889
gtaaaataatacctggttctccatctgaatacatcaatgcaggttctcctcgtaacagac c.*1440
. . . . . . g.293949
ttgcatatgtttgttagtttctgcctgtattgtcactgcgcaacggatggcattcattac c.*1500
. . . . . . g.294009
aagaagagcccatcatcgttgtgtttgcatggtttttttccttgtgtgtagcccatgttg c.*1560
. . . . . . g.294069
ggaacacgatacaggttctcctcttatttcctatgacacgatttcccttgtggaaattta c.*1620
. . . . . . g.294129
agactttaagaactagagtatttttatggtgtctgcacctgcagttctgtgtttaaaatg c.*1680
. . . . . . g.294189
tcataatgtggatcctggagtcaggctactagtcagtgcccctagccagaggctggttca c.*1740
. . . . . . g.294249
tgagttcatcaactgaggcctctgtggcttcaataaagtctacattttgctcacagatca c.*1800
. . . . . . g.294309
caacattcactgtggaaatatgatttcatttctttaggctacaaacctgtatttctttac c.*1860
. . . . . . g.294369
tgaatgctaaggccatgtttatattgggtagaaagatattgagatcccaattttgtacaa c.*1920
. . . . . . g.294429
gattgtgatttcattatctaaaccttaaacttaatcctttaaattttgtagcttttggct c.*1980
. . . . . . g.294489
gcatctgccccaagtactattccaggcaaattaaagttggaatacctttaataatataaa c.*2040
. . . . . . g.294549
aataatgatagtaaatcttatacttctgttggcccttagcttgaaaatagcagttaaaaa c.*2100
. . . . . . g.294609
aatttaaatgttgccttgattatcagtacttaattatgttgtgcactaaaaccttaaata c.*2160
. . . . . . g.294669
tttattactgtgaataaaaacaaattatctttactgtatagctggtttctttaaatgttg c.*2220
. . . . . . g.294729
atagaattgtggcattacatctaaatttgtaagtcttttcatatcaaacaagcaaggctt c.*2280
. . . . . . g.294789
tttatgctgctaagtctgtgggtgcagaaagaaacaccccttggaagggcaaagagaagc c.*2340
. . . . . . g.294849
cggctggttgcatcaccccgtgcagtttctcacacacatctctttttctgattctgtgtt c.*2400
. . . . . . g.294909
cagaagaggctgccggcataaaacctaaatgcaaggttgacggagaacagcttgtctggc c.*2460
. . . . . . g.294969
acaacaatggtgcaggcccacgagccagcatcacagcttggccatgggacgttgagtatg c.*2520
. . . . . . g.295029
cacaaactagaactcttcccttcccaccttaggaatagaaaatcctcttcctttctaatc c.*2580
. . . . . . g.295089
tgaaaaacgaaaactgaacaaacacaaaaccaaccccttggcagttcccacctcctattg c.*2640
. . . . . . g.295149
acatatggaatattgtgccttattgtaaaccagtttgaaaaatgttctgtaactaaagtg c.*2700
. . . . . . g.295209
ggttttcggctattatgtatacagcttggtatattactacgaaagataaccaccttgtgt c.*2760
. . . . . . g.295269
tgcaccttaaaaatatcaagaccatgtaatttccataacaaaataggtggcctggctatg c.*2820
. . . . . . g.295329
gtattatagcatacaattaggacactatgcccctgcaaaattttgtaaatcaaattcaga c.*2880
. . . . . . g.295389
ggcaaaaacatattttagaatcatacagtttgcacacgacaagtaggtaataactgtctc c.*2940
. . . . . . g.295449
taaaaatgttttctccttagtccgcaatgagctaagattcagaatagtgtcaacagcatg c.*3000
. . . . . . g.295509
ctcctatatgaagttgttttttttaaagcacatttgtttatgacaagcctacattctcag c.*3060
. . . . . . g.295569
tgaatatggcatttagtatttcttttgaaaacaaacttaagcatcatgagccaaagttgc c.*3120
. . . . . . g.295629
actttgactcccaactacggtagcattatggacatctcacaatgtcaagggtttctgtta c.*3180
. . . . . . g.295689
tgtattagtaaagtatagattattggggcctacataatttaaaagaaatgtaaattaata c.*3240
. . . . . . g.295749
ttaaaagcttgtaaaaatatgtatatctttactatttctcaataaatacctttgcaattg c.*3300
. g.295764
ttttcatttccttca c.*3315
(downstream sequence)
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