(used for variant description)
(last modified April 11, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_006775.2 in the QKI gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029604.1, covering QKI transcript NM_006775.2.
(upstream sequence)
. g.5011
tgaactgaggc c.-541
. . . . . . g.5071
gaactccgccgccaagtgagtgaggaggaggaggaggagaaggaggaggaggaagaggag c.-481
. . . . . . g.5131
gagcgcagtcggagcgcggcggcagcggcagaggcgccgcggcggggaccagcccagaga c.-421
. . . . . . g.5191
gaccccccgagcccgcggcacaggcggcggcggcgctgagcgggctcgaccagccgagcg c.-361
. . . . . . g.5251
agcggcggccccggctcctcctcgtccggcgccagcagcccgcgccccgcgcccgcactc c.-301
. . . . . . g.5311
ggccagccgagacccgcctcccgcccgcccgccggcctcgtgagggacgcgccgagccgg c.-241
. . . . . . g.5371
gcggccgagagcggcggcggctgggagcgcgtcgggcccgggcggaaagtgcctgcgggg c.-181
. . . . . . g.5431
ggcgggcgagcgcgcggtgccggccgccccggggctcggcgcgggagccagagcgggagc c.-121
. . . . . . g.5491
cggcgcggagcgggacgccgggtcccgagcggcccgcggccggggctcgcccccgcccct c.-61
. . . . . . g.5551
ccctcctctccggcggcggcggcggcggcggcgggcggagtgagctgcggagcctggaat c.-1
. . . . . . g.5611
ATGGTCGGGGAAATGGAAACGAAGGAGAAGCCGAAGCCCACCCCAGATTACCTGATGCAG c.60
M V G E M E T K E K P K P T P D Y L M Q p.20
. . . . . . g.5671
CTGATGAACGACAAGAAGCTCATGAGCAGCCTGCCCAACTTCTGCGGGATCTTCAACCAC c.120
L M N D K K L M S S L P N F C G I F N H p.40
. . | 02 . . . . g.45674
CTCGAGCGGCTGCTGGACGAAG | AAATTAGCAGAGTACGGAAAGACATGTACAATGACACA c.180
L E R L L D E E | I S R V R K D M Y N D T p.60
. . . . . . g.45734
TTAAATGGCAGTACAGAGAAAAGGAGTGCAGAATTGCCTGATGCTGTGGGACCTATTGTT c.240
L N G S T E K R S A E L P D A V G P I V p.80
. . . . | 03 . . g.69152
CAGTTACAAGAGAAACTTTATGTGCCTGTAAAAGAATACCCAGAT | TTTAATTTTGTTGGG c.300
Q L Q E K L Y V P V K E Y P D | F N F V G p.100
. . . . . . g.69212
AGAATCCTTGGACCTAGAGGACTTACAGCCAAACAACTTGAAGCAGAAACCGGATGTAAA c.360
R I L G P R G L T A K Q L E A E T G C K p.120
. . . . | 04 . . g.125357
ATCATGGTCCGAGGCAAAGGCTCAATGAGGGATAAAAAAAAG | GAGGAGCAAAATAGAGGC c.420
I M V R G K G S M R D K K K | E E Q N R G p.140
. . . . . . g.125417
AAGCCCAATTGGGAGCATCTAAATGAAGATTTACATGTACTAATCACTGTGGAAGATGCT c.480
K P N W E H L N E D L H V L I T V E D A p.160
. . . . . . g.125477
CAGAACAGAGCAGAAATCAAATTGAAGAGAGCAGTTGAAGAAGTGAAGAAATTATTGGTA c.540
Q N R A E I K L K R A V E E V K K L L V p.180
| 05 . . . . . . g.152393
CCTGCA | GCAGAAGGAGAAGACAGCCTGAAGAAGATGCAGCTGATGGAGCTTGCGATTCTG c.600
P A | A E G E D S L K K M Q L M E L A I L p.200
. . . | 06 . . . g.153803
AATGGCACCTACAGAGATGCCAACATTAAATCAC | CAGCCCTTGCCTTTTCTCTTGCAGCA c.660
N G T Y R D A N I K S P | A L A F S L A A p.220
. . . . . . g.153863
ACAGCCCAGGCTGCTCCAAGGATCATTACTGGGCCTGCGCCGGTTCTCCCACCAGCTGCC c.720
T A Q A A P R I I T G P A P V L P P A A p.240
. . . . . . g.153923
CTGCGTACTCCTACGCCAGCTGGCCCTACCATAATGCCTTTGATCAGACAAATACAGACC c.780
L R T P T P A G P T I M P L I R Q I Q T p.260
. . . . . . g.153983
GCTGTCATGCCAAACGGAACTCCTCACCCAACTGCTGCAATAGTTCCTCCAGGGCCCGAA c.840
A V M P N G T P H P T A A I V P P G P E p.280
. . . . . . g.154043
GCTGGTTTAATCTATACACCCTATGAGTACCCCTACACATTGGCACCAGCTACATCAATC c.900
A G L I Y T P Y E Y P Y T L A P A T S I p.300
. . . | 07 . . . g.157104
CTTGAGTATCCTATTGAACCTAGTGGTGTATTAG | GTGCGGTGGCTACTAAAGTTCGAAGG c.960
L E Y P I E P S G V L G | A V A T K V R R p.320
. . . . | 08 . g.161062
CACGATATGCGTGTCCATCCTTACCAAAGGATTGTGACCGCAGACCGAG | CCGCCACCGGC c.1020
H D M R V H P Y Q R I V T A D R A | A T G p.340
g.161068
AACTAA c.1026
N X p.341
. . . . . . g.161128
cctatgaccttctgacctctgaactcttcacccaatgatgacctgaccatgcctgcctgc c.*60
. . . . . . g.161188
tgatcagttaactggtaatcgcctttgcttgcctgtcgtcagtgcagcgagctgaggcac c.*120
. . . . . . g.161248
ttgtccgttcgtcttaccatctaaccaaacaaaagacaaagaaattgttgtcctccaact c.*180
. . . . . . g.161308
cagctttttttttttttttttcctgtttgggtgaaagtggttctagaaactgcactgaat c.*240
. . . . . . g.161368
agtagtaaagcaataaggcccaattcatcccacagcactgatcatcttttaatatcccac c.*300
. . . . . . g.161428
cctaagcgaacggtaagaaggcctctcttaagaaggggagacagatggtccttaactact c.*360
. . . . . . g.161488
caatgacagaggcagttactgtgagagacttctaggaatctttttcttctcatagcgaag c.*420
. . . . . . g.161548
tcaaagctctctctgaatgtactgtgtgatgatgcatcatgcatgaaccttcggtcaggg c.*480
. . . . . . g.161608
atatcattggtgaagtgatttcaaaaagtattcaaaatttgatatgctgtttagtcacta c.*540
. . . . . . g.161668
cagtgccctcaaagggcagaagttgcagccttttttatattgcctgccaaaatttgaagt c.*600
. . . . . . g.161728
attagaagaaagtgtgccatgagagaaaaacttaaggagttttgaaaagtaatgcaaata c.*660
. . . . . . g.161788
acaaaactgcaacactatttttaaaaagataaatatctgagttaaaattactgaatcttt c.*720
. . . . . . g.161848
attttacacctaaaaaaatatgagaacaaggtacatgcattatgtgtcacattactgggc c.*780
. . . . . . g.161908
aaactgttcaagtatttttttttaaacctccctgtatagaaaaaaatcattaaggatgta c.*840
. . . . . . g.161968
aaagccatgcttgcctatttgctgtatacatgtaatgaaattgtagataaagtgtagtgc c.*900
. . . . . . g.162028
attgaaacaaatgaacaaaaagtagatacttttactatacaagggtgctggtgcagaaaa c.*960
. . . . . . g.162088
aaatatatatatttttggaaatgtagcattttatactttcaagtgttataaaaaaaaaga c.*1020
. . . . . . g.162148
aaaagaacaaagaaaccctttatttcattaaatgattttttctggtggttgtcaagaaac c.*1080
. . . . . . g.162208
aaaagaccaaaagagcctttttgtctttcttttttattttttaagtattggaataagtct c.*1140
. . . . . . g.162268
aaagaaaagaaagtgccttattttccttcatggtcattcagtcaagtgtctcataaagat c.*1200
. . . . . . g.162328
cagctcctccctcagaatacaagttaatgcatgttactcagtcgcccagtatgtgaaaga c.*1260
. . . . . . g.162388
agatatgagggagacaaatgagttgatagtttgaattataggatttttgccacgttacct c.*1320
. . . . . . g.162448
tgatgcaaatttgccaaatctgatactgtgaaaagatttgataacttttctaatgcctga c.*1380
. . . . . . g.162508
ctagtaagttttaaaacatcattctttaaaagaatagtttaatacttttggttattccaa c.*1440
. . . . . . g.162568
tcttcaatgttaacccaaaggattctgagataaaaattatgtgtcatctaaacttcagtt c.*1500
. . . . . . g.162628
tacagacaaaattagagctttgttttatttggagaagggggatgcattcatttgattttg c.*1560
. . . . . . g.162688
ttttttgtttttaattaattgaatataataggatacctagcaaatgttttcacaaaagtg c.*1620
. . . . . . g.162748
aatctttgtgattttcattctagaaaacaatgttttaaatcacccaaatttaatcacatg c.*1680
. . . . . . g.162808
tctttatatcataccagataactggtgtagtgtatccttttactgtttcaataacctctg c.*1740
. . . . . . g.162868
cctcccccaccccttaactttaaaagaatgtgaaaaactagcatcatagtgcatataaat c.*1800
. . . . . . g.162928
actcaaccacatttcagcttaagcttctaatttctcaagaagttgaaacagttagttatg c.*1860
. . . . . . g.162988
tagttgaagcaatttgtgtgcaaagcctacatctaaacacttgagtgaataatcattaac c.*1920
. . . . . . g.163048
tgctcagtaccagacgtggcaaatctcaagtgacagtggacccccccccccgcccagctt c.*1980
. . . . . . g.163108
atcaactcgtcccctcttccacaccttcccagcatcacagtcagaggtcagcaggaagct c.*2040
. . . . . . g.163168
gagtcattaccttcttggtgacctcccccaccatcttgtctcacttggaaaccgttgtca c.*2100
. . . . . . g.163228
gtttatttactatgcaatagacattcattgttttgtatccagctagctttggtttaatat c.*2160
. . . . . . g.163288
gccactgctttgtctttctgttacacatacagttttgatttatttacaatatatgctgtg c.*2220
. . . . . . g.163348
ccattttgatttttatattgtttggttggttgaataaatttgcgacactcaaacacttga c.*2280
. . . . . . g.163408
ggtgatagttgttaaaaacaataccagtatttgatccagtttcatctcaactatgttata c.*2340
. . . . . . g.163468
cctggacattttagatgtttatcaaaggtcttttatggggaagaaagtaaatgtatgaaa c.*2400
. . . . . . g.163528
taataaatgtgtgacatttatagggaatgttggctctgaacaaacttttgaaaacttggt c.*2460
. . . . . . g.163588
tgacaaaattttggatcaactgaaaaaagcatgacttttgaaatctctgaatgccttggt c.*2520
. . . . . . g.163648
tctcagtattatcattctttattgaatttatttcttattaaaatatgtagtttttaagac c.*2580
. . . . . . g.163708
tttttttctgacagtattatgtaattttttagcgtgggtagatgggagtgtcgcttgtat c.*2640
. . . . . . g.163768
gttatcgtacagctgacatgtatttttgtctattctttattatcttagtttcatgctatg c.*2700
. . . . . . g.163828
tatgtaccataaccaacctattgcctatgagaaacatgtaagataatgtatttacagcca c.*2760
. . . . . . g.163888
ttgttacaagtttataatgtatttttctatcttgttttatatgtatgttatataacattc c.*2820
. . . . . . g.163948
aaaaagaatttttttcttgattgagaaaaggatacaaaatgcaaaatccacaattttgat c.*2880
. . . . . . g.164008
aactgaaaattgccaattgttttgcagtactttattatattgggtgtcttgtcttttttg c.*2940
. . . . . . g.164068
ggcttttagttagctaatgaatgaatacattagacacttttgggttttagttgggatttt c.*3000
. . . . . . g.164128
acatagcttgcattttaattctttggttctttgctgtttctattaacccacagcattatt c.*3060
. . . . . . g.164188
ttaataaatgttataataccaacctactaactctggactttgtctgtttattaaccttta c.*3120
. . . . . . g.164248
tatgtttaattaaaataaacaaataaagacaaaagaatgtaaagtcttgagttactggac c.*3180
. . . . . . g.164308
taaccctgaagaacgtgaccacagataacatagtgtgacttgtttttatgttgtttgtca c.*3240
. . . . . . g.164368
gctgacagttttgcacactactgttaaaatggctttggttattctggtcttttagcttgg c.*3300
. . . . . . g.164428
gggccggggcgggtgtgggtgtaggtgcagtagagatgggaacaaagtagcctttgtttg c.*3360
. . . . . . g.164488
aggcattcttctcttgccacttgcctttcagcatctgcattactaattccacaccttatt c.*3420
. . . . . . g.164548
tttccttctccaaaataatcactgtctgctcacagcatcgagtaaaaagatacattgtca c.*3480
. . . . . . g.164608
tggtatatacctggagaaaccagtttgattctttgttgaaccatttcttttaatttctgt c.*3540
. . . . . . g.164668
aaataagtaattttatggtcacattgtaaagcagagaaactgttgatattttacctttat c.*3600
. . . . . . g.164728
ttagatttttgttttaacttgacctttttcctttggaaagcgttgaacttgtttagctaa c.*3660
. . . . . . g.164788
ctactcctattaggggagcttaacttgggtaaagtcaaaggcccactggctgtttctcat c.*3720
. . . . . . g.164848
ggtggcctgaagccccgctgctttccagtgaggaaaagaaccctcagcacgttactgagc c.*3780
. . . . . . g.164908
tttcctcaggtatttttttctctgtcacctactttacaaatacagtcagactaaaacatt c.*3840
. . . . . . g.164968
aaacaagaagtttaagggggaataacattgggatttgaaaagttgtatgtgattaatttc c.*3900
. . . . . . g.165028
ttgcatgcaaatcaatttaagatttcttaaatatcttcatgcttttcttggctggaactt c.*3960
. . . . . . g.165088
gggtaaattaacctgtaattatgaattatttagtttaactcaaggtgcatttttatttca c.*4020
. . . . . . g.165148
cagattgatacttgcttttttctgtgaaacagttctcctagataccaaaatcctcaggat c.*4080
. . . . . . g.165208
gaatttttgcatttgtaaataacaatttatctttgtaaattacattttatttatttagag c.*4140
. . . . . . g.165268
ttctaaaattgagggctgaaatgaatgacatgtaatagaagacaaaactgtaccaatacg c.*4200
. . . . . . g.165328
ctgttaaccaatcagactgtccaggtattctcatttcataaatatgtatacacacatata c.*4260
. . . . . . g.165388
aatacacagagtagtgttagctgatgtgagtgataacagcgaatcaccattgagatggtc c.*4320
. . . . . . g.165448
atttggatcatgtaaacaaaccgtgtcatgtctctgatgggagcggtgggtagtgtactg c.*4380
. . . . . . g.165508
ttaggtggacaggtcttttaacatgctactatttgtaaaagtttccgttgccataacagt c.*4440
. . . . . . g.165568
tcatgtagtagtctgtgaaaattcgaagctgtctgtcaagctgctaatatacaagttgtc c.*4500
. . . . . . g.165628
atggtaccatgtaacttaaattgatgaatttctatgcaatttactattctctgaagccta c.*4560
. . . . . . g.165688
tgaatgcagcctcatctcattttcagttaagggtactttatgtataattatgtcattgct c.*4620
. . . . . . g.165748
gccttttatgtaggaaatgtaaaaaagttttaaaaggcgaaaataacattacagatttca c.*4680
. . . . . . g.165808
tttttatacaggttacaatattaaacatgaaactaccaaattccaagaatagtaaaattc c.*4740
. . . . . . g.165868
tagagtcagttgattgattgaaactatttgacaaaacagttgaaagctgagctttcagtc c.*4800
. . . . . . g.165928
aagaagttggtgaaattaatgtccttaaacttttcctttaggcaaaatgtcagggaaaac c.*4860
. . . . . . g.165988
ttaacatgaaagtagttactcccatacgcaccagtgcagtagctccaggtgtaagaggtc c.*4920
. . . . . . g.166048
acgaaggcaccctgcccataaaaccaggatgtgcatacgtacacacaatcggtgtctggt c.*4980
. . . . . . g.166108
tatggttttctaaacactacataaggatctgaattttttagtgtgccaaaagcaaacgat c.*5040
. . . . . . g.166168
aggtttaaatgaaattgctcactaccaaatcaagactcttcatatatatacgtgtgtgta c.*5100
. . . . . . g.166228
tatatatatgtcataacactttcacgtgtgacagcctaaggtttctttagttttaggatg c.*5160
. . . . . . g.166288
gggtggggtgggagtggttttgcatgtttgaccaggatgtgatgcctgtctttattcctt c.*5220
. . . . . . g.166348
gataagaagtagctgttacagcatttcaagcaaattattttaggtagaatagaacttact c.*5280
. . . . . . g.166408
gccaaatgattatttatttagcaaaaattattctccaacttttcgaattcacaatttttc c.*5340
. . . . . . g.166468
taagtgcatagagtagttttttacattgtcacgaattccttaatacctttatttaaaatg c.*5400
. . . . . . g.166528
gaaaaaatatggacaatattttagaaatatgtgctacacatctaattttatctgtagttt c.*5460
. . . . . . g.166588
aagtgatctaaattgagatgcctttgatatgaagagatttaccaacattatatgcactcg c.*5520
. . . . . . g.166648
tgccttcaatgtggaatcaaactggttaacctcagcacagtcctctcgtttctgtgtttc c.*5580
. . . . . . g.166708
tgctgcactaattgccagggggtgggggagaaggcgaatgaattaattcatagtagaagg c.*5640
. . . . . . g.166768
aggcgataggtgcagcaaagggcagccacagtgttgattccacattataatgttgttgcc c.*5700
. . . . . . g.166828
tcttcttggcaaaagacaccacattgtgggaagatctcagcttccagggtaaaagttaat c.*5760
. . . . . . g.166888
ttataacttaaaagtgctattaagtttttattaccaaatatatcttttatggtttatatt c.*5820
. . . . . . g.166948
gtagtggtatgtatgaaacatttaaaattttactgtggaaattgtgtatatatatatata c.*5880
. . . . . . g.167008
tagtcgaaataggtgttcacaggtcacatgtgaacggagaactgcatgaccgtacatgaa c.*5940
. . . . . . g.167068
atgcaataaaccaactggaaaaagtgcatgtgcttcatcctctcaagccaactgcagctg c.*6000
. . . . . . g.167128
gaaagtgctgcttatcctccacccccagaaaatgcatgtatcaatatgagaataaagaac c.*6060
. . . . . . g.167188
gcacactttcaattttattgaggctttcaacactatttaaaagaaaatgtaagaatttga c.*6120
. . . . . . g.167248
cattctggagttattataacattagaaaatgagcataacattcactctgattttagccat c.*6180
. . . . . . g.167308
taagggagattagtaaacagactgctacagtgttccatagttggactgtgcatccaaaac c.*6240
. . . . . . g.167368
atttttttatctttaataaatggtacagtttttatgtagttttcgaatgtaagaagaaag c.*6300
. . . . . . g.167428
gaatgctgaccaaaacttgatttcatcagcttcatgaaaaggactagtgtcattaacctg c.*6360
. . . . . . g.167488
ttgaacagaattggtttattaaaaaaatcatttccagtagtgtgaaacctttacgagtct c.*6420
. . . . . . g.167548
ttaacatctaaatgttatgactccttgtaccttaagttttccagtctttcttatttatat c.*6480
. . . . . . g.167608
catctccaagtacctctggctcctttcctcttgctcaccggaaccttagttttcctcaac c.*6540
. . . . . . g.167668
agaatgctttgttaaagtagcccacagttgcaggatccatagcaccgtcgtgcagactag c.*6600
. . . . . . g.167728
cagcccaaaggtgtgtttggtttggcttatacggtgttttgctttttaaactacttgcca c.*6660
. . . . . . g.167788
taatttaaaagtggcaacactagacttaaaaaaaaaaaagtctgattgcccatattagat c.*6720
. . . . . . g.167848
tttttttttaattcttcacaaaatctgctcttcctgaaagatcaaagtgtctagaaagcc c.*6780
. . . . . . g.167908
caaacatgtattcttaacatagtaggcaccagctgaaactgagtaattaaacggtcccct c.*6840
. . . . . . g.167968
gaagccaagtattccctggttagtcgccaccccaccactccttcctgtctctagtgtcac c.*6900
. . . . . . g.168028
acttgggctgttgattttcttactcttctcttgctttaatccttccccccggctctctgg c.*6960
. . . . . . g.168088
ctcctgtggatatctgtgcttgtttcctggtccaggatggtgatctgactttcaaaccag c.*7020
. . . . . . g.168148
cttctcaaaaggggtgacataaaatcagttttgatgtttttcctcctgaaaaatcagatg c.*7080
. . . . . . g.168208
aatattttagtcactgttactcatgcacattgtgttcttatgtttacagaagtgcttaag c.*7140
. . . . . . g.168268
tgaatggaagcactagacatttggatttccttcctaacgtaatttttaatgattacccct c.*7200
. . . . . . g.168328
tttatacagtaatttgtggtctttagaaagcagttaaactaattgaccatctaatagttg c.*7260
. . . . . . g.168388
tactatacatatgtctaaaataatagtcatggtaagtttggcatcatatcttccccaaaa c.*7320
. . . . . . g.168448
aatgtttattaaaattagattattccagtttaatgctattttgtgaactgtataccctct c.*7380
. . . . . . g.168508
gaaagcgcttatttttacatgctacacaacagttccaattttaaggagtgtctcctaaaa c.*7440
. . . . . . g.168568
ttgggatgaaaatctactgtagtctgttttaaagtatgctatactatgttcattggttac c.*7500
. . . . . . g.168628
ttaactggatattaatataaaggttattacaagaaaaatgatgaagagcaaaaggagaag c.*7560
. . . . . . g.168688
aaaatatttgcaagtgaatccacaattcttgcagaactatttgagttgatactaaagatt c.*7620
. . . . . . g.168748
ttatgttcactcctttaccttagaactgtcaagcttgggaatgaggaaagtgccttggct c.*7680
. . . . . . g.168808
gtgcttgaaacctgaattttagtgcttcccttattacattcattgttttcaatgattgat c.*7740
. . . . . . g.168868
ttataaaattaagacatactggtagtacaagttgaaagttggtttgaatacattttaatt c.*7800
. . . . . . g.168928
aaatgataatatgttaatatgcttttgttcattgctttctcactgaggtaaaacagcatt c.*7860
. . g.168954
aaaaagttgtccagaatttaaactga c.*7886
(downstream sequence)
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