(used for variant description)
(last modified February 5, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_139241.2 in the FGD4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008626.2, covering FGD4 transcript NM_139241.2.
(upstream sequence)
. . . . . g.5057
ggagggctggttaccatggaatccaccatctgttcactccccaccggaatgtgatta c.-421
. . . . . . g.5117
tccttgctgggctgggaagtggggaaagcaggggagcctgtgctgggtgagattatctgc c.-361
. . . . . . g.5177
aatggaccgggttaatgggaggcttgctttggctcgctggaagaacaaatgaagggagtt c.-301
. . . . . . | 02 g.67035
ttacttcaaccatttgtgacttctggccaagaggaataaattcagcttttataag | gcagc c.-241
. . . . . . g.67095
agtacctgtccaaagatcgctttagttccaccttgctccacaagcagcacaaccacactg c.-181
. . . . . . g.67155
gttggtgagaatgtatctgaagaagaggctcagggaataaatgggaacaggccagcaaaa c.-121
. . . | 03. . . g.79191
cactcagctgcaagtccaaagccacaag | tgcctccaaagccattacacctgcagaattca c.-61
. . . . . . g.79251
ccttcgtccaatatacaccaaacccccaggcataaagctttacctagtgcaaaaccaagg c.-1
. . . . . . g.79311
ATGGAGGAAATTAAACCTGCCTCTGCTTCTTGTGTCTCAAAAGAAAAACCCAGTAAGGTA c.60
M E E I K P A S A S C V S K E K P S K V p.20
. . . | 04 . . . g.84881
TCAGATCTCATCAGTCGCTTTGAAGGAGGCAG | CTCATTATCAAATTATAGTGATTTGAAG c.120
S D L I S R F E G G S | S L S N Y S D L K p.40
. . . . . . g.84941
AAAGAGTCTGCTGTGAACCTAAATGCTCCTAGAACCCCAGGAAGGCATGGATTGACAACC c.180
K E S A V N L N A P R T P G R H G L T T p.60
. . . . . . g.85001
ACACCTCAACAAAAACTCCTCTCCCAGCACTTGCCACAGAGGCAGGGAAATGATACAGAT c.240
T P Q Q K L L S Q H L P Q R Q G N D T D p.80
. . . . . . g.85061
AAGACTCAGGGTGCACAGACTTGTGTGGCCAACGGTGTAATGGCAGCACAAAACCAGATG c.300
K T Q G A Q T C V A N G V M A A Q N Q M p.100
. . . . . . g.85121
GAATGTGAGGAGGAGAAAGCTGCCACTCTTAGCTCAGATACTTCTATTCAAGCTTCTGAA c.360
E C E E E K A A T L S S D T S I Q A S E p.120
. . . . . . g.85181
CCCTTGCTTGATACGCACATAGTGAATGGAGAAAGAGATGAAACTGCCACAGCTCCTGCA c.420
P L L D T H I V N G E R D E T A T A P A p.140
. . . . . . g.85241
TCACCCACAACAGACAGCTGTGATGGAAATGCTTCTGACAGTAGCTACAGGACTCCAGGC c.480
S P T T D S C D G N A S D S S Y R T P G p.160
. . . . . . g.85301
ATAGGCCCAGTGCTCCCCCTAGAAGAAAGAGGGGCAGAAACAGAAACCAAGGTACAAGAG c.540
I G P V L P L E E R G A E T E T K V Q E p.180
. . . . . . g.85361
AGGGAAAATGGGGAAAGCCCTCTGGAACTGGAGCAGCTGGACCAGCACCATGAGATGAAG c.600
R E N G E S P L E L E Q L D Q H H E M K p.200
| 05 . . . . . . g.101450
| GAGACTAATGAGCAAAAACTTCACAAAATAGCCAATGAACTTTTGCTTACTGAAAGAGCT c.660
| E T N E Q K L H K I A N E L L L T E R A p.220
. . . | 06 . . . g.104201
TATGTCAACCGACTTGACCTCTTAGATCAG | GTATTTTATTGCAAACTGTTGGAAGAAGCA c.720
Y V N R L D L L D Q | V F Y C K L L E E A p.240
. . . . . . g.104261
AACCGAGGCTCGTTTCCAGCAGAGATGGTGAATAAAATCTTTTCTAATATTTCATCAATA c.780
N R G S F P A E M V N K I F S N I S S I p.260
. . . . . | 07 . g.105058
AATGCCTTCCATAGTAAATTCCTCTTGCCAGAGCTGGAGAAACGAATGCAAGAATG | GGAA c.840
N A F H S K F L L P E L E K R M Q E W | E p.280
. . . . . . g.105118
ACTACTCCTAGAATTGGAGACATCCTTCAGAAATTGGCACCATTCCTTAAGATGTATGGA c.900
T T P R I G D I L Q K L A P F L K M Y G p.300
. . . . . . g.105178
GAATATGTGAAAGGATTTGATAATGCAATGGAATTGGTTAAAAACATGACAGAACGTATT c.960
E Y V K G F D N A M E L V K N M T E R I p.320
. . . | 08 . . . g.110877
CCCCAGTTCAAATCAGTGGTTGAAGAAATTCAG | AAACAGAAAATCTGTGGGAGCTTAACT c.1020
P Q F K S V V E E I Q | K Q K I C G S L T p.340
. . . . . . g.110937
TTGCAGCATCACATGCTAGAACCTGTTCAGCGGATTCCCCGGTATGAGATGCTCCTTAAG c.1080
L Q H H M L E P V Q R I P R Y E M L L K p.360
. . . . . | 09 . g.113677
GACTATCTAAGGAAATTGCCTCCTGATTCCCTGGACTGGAATGATGCTAAAA | AATCACTT c.1140
D Y L R K L P P D S L D W N D A K K | S L p.380
. . . . . | 10 . g.114039
GAAATTATATCTACAGCAGCAAGCCATTCTAATAGTGCAATAAGGAAAATG | GAGAACCTA c.1200
E I I S T A A S H S N S A I R K M | E N L p.400
. . . . . . g.114099
AAGAAACTCTTAGAGATTTATGAAATGTTGGGAGAAGAAGAAGACATTGTAAACCCTTCA c.1260
K K L L E I Y E M L G E E E D I V N P S p.420
. . . . . . g.114159
AATGAACTAATAAAAGAAGGACAGATCCTCAAACTAGCTGCTCGGAACACTTCAGCACAA c.1320
N E L I K E G Q I L K L A A R N T S A Q p.440
. | 11 . . . . g.122633
GAACGCTACCTTTTCTTA | TTCAACAACATGTTGCTGTACTGTGTGCCCAAATTCAGCTTG c.1380
E R Y L F L | F N N M L L Y C V P K F S L p.460
. . . . . . g.122693
GTAGGCTCTAAATTCACAGTTCGAACCAGGGTTGGCATTGATGGAATGAAAATTGTAGAG c.1440
V G S K F T V R T R V G I D G M K I V E p.480
. . . . . . g.122753
ACTCAAAATGAAGAATATCCACATACTTTCCAGGTGTCTGGGAAAGAGAGAACACTGGAA c.1500
T Q N E E Y P H T F Q V S G K E R T L E p.500
. | 12 . . . | 13 . . g.127887
CTGCAGGCCAG | TTCTGCGCAAGACAAAGAAGAATGGATCAAG | GCCCTTCAAGAAACCATC c.1560
L Q A S | S A Q D K E E W I K | A L Q E T I p.520
. . . . . . g.127947
GATGCTTTTCATCAAAGGCATGAAACCTTCAGAAATGCAATTGCAAAGGATAATGACATT c.1620
D A F H Q R H E T F R N A I A K D N D I p.540
. | 14 . . . . . g.128592
CACTCAGAGGTTTCT | ACTGCTGAGCTAGGGAAAAGAGCCCCAAGATGGATCCGAGATAAT c.1680
H S E V S | T A E L G K R A P R W I R D N p.560
. . . . . . g.128652
GAAGTGACAATGTGTATGAAATGTAAAGAACCTTTCAATGCACTGACACGAAGGAGGCAT c.1740
E V T M C M K C K E P F N A L T R R R H p.580
. . | 15 . . . . g.136481
CATTGTCGAGCATGTGGATAT | GTGGTTTGTTGGAAATGCTCCGACTACAAAGCTCAACTT c.1800
H C R A C G Y | V V C W K C S D Y K A Q L p.600
. . . . . . g.136541
GAATATGATGGTGGTAAATTGAGCAAAGTTTGTAAAGACTGTTATCAAATCATAAGTGGA c.1860
E Y D G G K L S K V C K D C Y Q I I S G p.620
. . . . | 16 . . g.141566
TTCACAGACAGTGAAGAAAAGAAAAGAAAAGGAATTTTAGAG | ATTGAATCAGCAGAAGTA c.1920
F T D S E E K K R K G I L E | I E S A E V p.640
. . . . . . g.141626
TCTGGAAACAGTGTGGTGTGCAGCTTTCTTCAGTATATGGAGAAGTCAAAACCTTGGCAG c.1980
S G N S V V C S F L Q Y M E K S K P W Q p.660
. . . . . . g.141686
AAAGCTTGGTGTGTGATCCCCAAGCAAGACCCTCTTGTGCTGTACATGTATGGTGCCCCC c.2040
K A W C V I P K Q D P L V L Y M Y G A P p.680
| 17 . . . . . . g.143226
CAG | GACGTCAGAGCCCAGGCCACCATTCCACTTCTGGGCTATGTGGTGGATGAAATGCCA c.2100
Q | D V R A Q A T I P L L G Y V V D E M P p.700
. . . . . . g.143286
AGGAGCGCAGACCTGCCACACAGTTTCAAACTGACCCAGTCTAAGTCCGTGCACAGCTTT c.2160
R S A D L P H S F K L T Q S K S V H S F p.720
. . . . . . g.143346
GCTGCAGACAGTGAGGAACTGAAGCAGAAGTGGCTGAAAGTCATCCTTTTAGCTGTCACA c.2220
A A D S E E L K Q K W L K V I L L A V T p.740
. . . . . . g.143406
GGTGAGACACCAGGTGGTCCAAATGAGCATCCAGCCACCTTGGATGATCATCCTGAACCT c.2280
G E T P G G P N E H P A T L D D H P E P p.760
. . g.143427
AAGAAAAAATCAGAATGCTGA c.2301
K K K S E C X p.766
. . . . . . g.143487
actcctccaggaccagccatggtgtggaggtctcaggacttacagctcaagacattccca c.*60
. . . . . . g.143547
gctcttcttacacatctgctagcactttatgttgaaaaatataggcccataaatgcatct c.*120
. . . . . . g.143607
tttgaggactattttcctatgtttatgtactcttagtgaaattagtgtgcagagtcattc c.*180
. . . . . . g.143667
taccgataaagttttgaaataatgtgaaaactggagcattttttgagctattccttgaat c.*240
. . . . . . g.143727
atgtgcttttttgtcttgaagaaatggtgtatcaattgattctgtcaccgtcaggttaga c.*300
. . . . . . g.143787
atgagcacttccatttaagaaatcctttcatgtcttcttctctttcacatgtaggacctg c.*360
. . . . . . g.143847
gaacagtttgaaagatatacctccatgttgccaaaatagatccatggtgaaaaatacagg c.*420
. . . . . . g.143907
gacagttgaggctattgtattaacttatttaatttagtttataaatctctagctgcataa c.*480
. . . . . . g.143967
atgatgtctgttcttttaaaacaaaagaaaaaggacaaattgttggtgttcagatttccg c.*540
. . . . . . g.144027
atttataaagaaaagataacttgtttttgtagaaatactcctaagaatgtcttaagtata c.*600
. . . . . . g.144087
tagcaattatgtatatatagtattaaatatatatattatacatgcttttaggttcacatt c.*660
. . . . . . g.144147
catctctaatttattttttaaatataaagcatggtttatcgtggaattgagcaatgttct c.*720
. . . . . . g.144207
aaactgaagaaatgttttggtgatttatgttttgctgattggcatttgagggtattgata c.*780
. . . . . . g.144267
tttttataataagcggtaatttatgtggcatgggatatatttgtgaattccaacagtact c.*840
. . . . . . g.144327
tttaaagtaccattttttgtttctgtgcctatttaaaacagtgcctctcttagaaggtgc c.*900
. . . . . . g.144387
tattaatataagatgagggttcagttaatgcttcagtcttgattattctaagattaaagt c.*960
. . . . . . g.144447
gcattttggtcactgggacagtcaaagtcatacaggttattttaccgtttacaatcctat c.*1020
. . . . . . g.144507
aattattgcagtagttaacatcagcatgtacaaacattttcaccaaaacccaaactttat c.*1080
. . . . . . g.144567
gagacacctgaccttttacagaactaggatatgtggaaaccacatttatcgtaatgtttt c.*1140
. . . . . . g.144627
tcttttccgtaagataatcgagcatggttaaataaggtctctatataatgaacacttaag c.*1200
. . . . . . g.144687
ataactgtatgggccttttcctttgtcggaatgaaacaaaatccacatgtgataacctat c.*1260
. . . . . . g.144747
gtttggggtgggggctggtcacatgattccttgtcatgaaggctgctcttcactcttttg c.*1320
. . . . . . g.144807
tacttgtgattaaaatctcacactaagtttactatttaacttaatcctttttctcaaatt c.*1380
. . . . . . g.144867
aaacctttttttatactgtcataccccaaacattgtcactttttaatgtaccagtctgct c.*1440
. . . . . . g.144927
agaaatctacaagaatgatcccactatctttagtatgtaaggattacaccttagatatag c.*1500
. . . . . . g.144987
aatagaatttgagactgccacacatttattcaggccttgttactttaagaaatatcttat c.*1560
. . . . . . g.145047
tttttccaccccaaaggagcaagtgaaccaattattgctgacataataggttcccttcct c.*1620
. . . . . . g.145107
ccataaaaggattatcagccatgatcattaacattaaaccaaatagatggagccaaaaag c.*1680
. . . . . . g.145167
agataaaagtagcttcttaggccctattaaatcagggaaagactagaagaaaatttacat c.*1740
. . . . . . g.145227
tgcttctcttttttaatggccagcggggtatgtgtgtgatgtatactcagagtggttttt c.*1800
. . . . . . g.145287
tggaaaattaaactgtagctatagatgatgctttggttttcttaatctcaagaaaagaga c.*1860
. . . . . . g.145347
agcaatggaaatacagaatgattaactggggaagaggacttttgtaagtgtgactagaac c.*1920
. . . . . . g.145407
aatggtaatgtatgggccaatgggaagatttataagtcagattatttttgaaaactattt c.*1980
. . . . . . g.145467
ttaaaagcaagaagactacactttccctaccaaaacagaagtaacatggacacacttaag c.*2040
. . . . . . g.145527
ttttggctcaataaatatcaatgttatttaacttagatcattgaaagaatactcatgtaa c.*2100
. . . . . . g.145587
agataatgtttattatcatgctcttaacagtcattatctttaattttttaaatgagaagc c.*2160
. . . . . . g.145647
attaatactagaagagaatttctggttatccggtcaccatattcactttccaccccacat c.*2220
. . . . . . g.145707
tcttcagctaaacgcaaagagaagcagtgaaacagccttacccgcttctctcttattaaa c.*2280
. . . . . . g.145767
gaatcactgatgtttttactcaatgaaaggtaaagtaatacccttagccatttattaaac c.*2340
. . . . . . g.145827
aattcaaccaagagacctcaaagtgtgattgatgataagaataatcaatgccttttccct c.*2400
. . . . . . g.145887
tccaacatacttgagcagtcatgacaacctaaaaatatcattggttgctttcccattaaa c.*2460
. . . . . . g.145947
accaacgttccctgtgggtcttaattctttattttcactcatttggtgctttccaagtca c.*2520
. . . . . . g.146007
tcttttctttaaagtgcccttcctccaaactttaaaaagtacttccttgacaaaatttct c.*2580
. . . . . . g.146067
attcattataaaacatttcaatattttaagcttaaattttgcttttgctgaaagcctacc c.*2640
. . . . . . g.146127
atttggcgtgttaagtatgaaatatagtgcagacttttatcttggttttaagtggggctc c.*2700
. . . . . . g.146187
aataaaaaacaccagccacttttgtaataatggcatcacagtgtcatcatgtatgcaagc c.*2760
. . . . . . g.146247
aataaaactctttagggtatggttttatactgaaaatttaatatgaaggccccttcccac c.*2820
. . . . . . g.146307
aagaatatagataattattaactttctagatgtgatacggtaattcgaattgcagagtat c.*2880
. . . . . . g.146367
aaggaagggaaatgggaaggggcatcattccttggattttaaataactatcaagaacatt c.*2940
. . . . . . g.146427
tttactttaacaaagaaaatggatagaaaaagcacattttgttttccctgaagtttaatt c.*3000
. . . . . . g.146487
tgacatcaggtttgtgtacttatcttcactaggtgacttaacttaccccaatttttttaa c.*3060
. . . . . . g.146547
aaattattaaactttttacagaaactaaccttttaaatgtaccctttccccatatatata c.*3120
. . . . . . g.146607
tacgcacacgtttggattttttttttttaagaacacttgttctagttataaatatataaa c.*3180
. . . . . . g.146667
gaaaacgataaagtttgtggtactgcagggttgttaaagattctttgatgccttctaaaa c.*3240
. . . . . . g.146727
acttttgtcaaaaatacttttgagttcacaattctgttttacttttccttgtccttactt c.*3300
. . . . . . g.146787
tttggaaacagggtggttgcttttatttgttttctggttatattcaaagccttaagttct c.*3360
. . . . . . g.146847
taatctgagcatattgtctgtgataaatttctgatgatctttctggactagatacaacct c.*3420
. . . . . . g.146907
gagtagcaagcaccaaccggagcaagtaaacttctagggaacaagcgtcttgggttttat c.*3480
. . . . . . g.146967
aggtatctttgctataatgcagaatagattaatgaagatttcctatatcatatgatattt c.*3540
. . . . . . g.147027
gtgttagtgggtctaagattaagcacatgatatttataagctaaaattaactcaaaagtc c.*3600
. . . . . . g.147087
aagaatgtcttaatgttttcattcttaaattttgtattctccaagaatgtattagtatat c.*3660
. . . . . . g.147147
gaactgtggccaaccagttcctattcttcagactgtattgacatctgtagtggatcatgt c.*3720
. . . . . . g.147207
tgcttcttcattcttaccaattttattagaatcaaacttcttgttatttgcatactatta c.*3780
. . . . . . g.147267
tctactatagattctcagctttagaaaatgactatgatacataaagaccactaggtcaac c.*3840
. . . . . . g.147327
ttaaaaaaccctttctgtgaatttatacatgtatgtatatatgtaaaaacactgttgatt c.*3900
. . . . . . g.147387
tgcaattctgtctttccatagaaatgaactttttctatcgaaattgtttaacttaaatat c.*3960
. . . . . . g.147447
tttaacataaattatttacatggatctttatgtataattcatccttatatatacccctta c.*4020
. . . . . . g.147507
atcacgtagtcatgagaagataactttgctttctttacagaaagggcagagaggaataag c.*4080
. . . . . . g.147567
ataagaaactgaaacaagcaagaatgaagagagatgtgggggagagactgctggtctcca c.*4140
. . . . . . g.147627
gaccacagcaatgtgttttaagataagatgaaatattttaactgcagaagggatataaaa c.*4200
. . . . . . g.147687
tctatgtaattacatgctgatgggatccattgcacccaggtttttgaccttggcctgtaa c.*4260
. . . . . . g.147747
atgctagactatgatatcttgttattctttttctcctttgggcttttaaaaaataatttc c.*4320
. . . . . . g.147807
attctcagatcattttctgtactgtttactgaggcaaaaaaaaaaaaaatctgaagtcaa c.*4380
. . . . . . g.147867
tcatggtcttctactttctggactgagcatttggcagaatgcagtatcttttcctgtatt c.*4440
. . . . . . g.147927
ttgacatgaaatagcacatggcttctacaagatagttttaacttgttggggtcaccggga c.*4500
. . . . . . g.147987
gttatatgatggtcaaccccttttcccaaaattcattgtggtagttttagtggaaaacgt c.*4560
. . . . . . g.148047
aaatcaagaaatctcatatcatactttaataaataaataccaaatacatagtgacatata c.*4620
. . . . . . g.148107
ggtttgggaagaaactagtctgtggggaccattataagagaatcacattatatattacac c.*4680
. . . . . . g.148167
agtatatggatattggaatgtatcacttgtggggggttctcttcattagcaaaacagtca c.*4740
. . . . . . g.148227
tgtctgtctgtatataagacttttttttttttaaccaaactagcatttcattttgtgagt c.*4800
. . . . . . g.148287
gacaattgacattttaaaataagcataggccgggcatagtggctcatgcctgtaatccca c.*4860
. . . . . . g.148347
gcccttgggaggccgaggtgggcagatcacttcaggtcaggagtttgagaccagcctggc c.*4920
. . . . . . g.148407
caacatggtgaaaccctgtctctactaaataaaaataaaacaaaataagtgtatctgggc c.*4980
. . . . . . g.148467
caggcacggtagcccatgcctgtaatcccagcactttgggaggccgaggagttcgagacc c.*5040
. . . . . . g.148527
agcctggccaacatggcaaaaccctgtctctacaaaaattagccaggtgtggtggcacat c.*5100
. . . . . . g.148587
gcctgtaatcccagctactcgggaggttgaggcaggagaattgcttgaacccgggagaca c.*5160
. . . . . . g.148647
gaggttgcagtgagccgagattgcaccactgcactccggcctgggtgacagagcaagact c.*5220
. . . . . . g.148707
tcgactcaaaaaataaaataagcgtatctggatttttcttttgaattcttgactgataag c.*5280
. . . . . . g.148767
tttgagaatgtatgtttttggaattttacagttgactcaagtgtgaaagtatacacaagt c.*5340
. . . . . . g.148827
aatttttcttttctagctatgtgaatgtaaaatacttgcagataatgtatatattgtgta c.*5400
. . . . . . g.148887
atatatgtatatttggtcataaaagcagataattggaaacattgtaaaattaagcacttt c.*5460
. . . . . g.148944
aattcctattaaatattaaacatttgtatcttgtaaataaacacatccttaaattaa c.*5517
(downstream sequence)
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