NM_014491.4(FOXP2):c.*2265G>T
|
rs12705977
|
0.33362
|
NM_014491.4(FOXP2):c.*3683C>T
|
rs1058335
|
0.16716
|
NM_004934.5(CDH18):c.991T>C (p.Leu331=)
|
rs17285716
|
0.14440
|
NM_014491.4(FOXP2):c.*3822C>T
|
rs10244649
|
0.12102
|
NM_014491.4(FOXP2):c.*2017G>A
|
rs75054333
|
0.03180
|
NM_014491.4(FOXP2):c.*205_*206insC
|
rs766446822
|
0.02729
|
NM_018392.5(ZGRF1):c.4087G>A (p.Glu1363Lys)
|
rs76187047
|
0.01292
|
NM_014491.4(FOXP2):c.741C>T (p.Gly247=)
|
rs61732741
|
0.01128
|
NM_014491.4(FOXP2):c.531A>G (p.Gln177=)
|
rs111801240
|
0.01115
|
NM_014491.4(FOXP2):c.570A>G (p.Gln190=)
|
rs61758964
|
0.01012
|
NM_014491.4(FOXP2):c.*2253A>T
|
rs73210755
|
0.00936
|
NM_014491.4(FOXP2):c.-99G>A
|
rs116320717
|
0.00774
|
NM_014491.4(FOXP2):c.*3199G>A
|
rs149254099
|
0.00537
|
NM_014491.4(FOXP2):c.*3624T>G
|
rs540406830
|
0.00376
|
NM_014491.4(FOXP2):c.*3563C>T
|
rs148596176
|
0.00342
|
NM_014491.4(FOXP2):c.1468+9T>C
|
rs75753538
|
0.00294
|
NM_014491.4(FOXP2):c.*80A>G
|
rs550961565
|
0.00239
|
NM_014491.4(FOXP2):c.552A>G (p.Gln184=)
|
rs146945410
|
0.00209
|
NM_014491.4(FOXP2):c.*2082A>G
|
rs145961115
|
0.00203
|
NM_014491.4(FOXP2):c.*998A>G
|
rs181206486
|
0.00136
|
NM_014491.4(FOXP2):c.*3517T>C
|
rs79694890
|
0.00123
|
NM_014491.4(FOXP2):c.*207T>C
|
rs776533754
|
0.00109
|
NM_014491.4(FOXP2):c.*3466G>A
|
rs544350916
|
0.00108
|
NM_014491.4(FOXP2):c.*2571C>T
|
rs575232403
|
0.00094
|
NM_014491.4(FOXP2):c.*276A>G
|
rs531205756
|
0.00092
|
NM_014491.4(FOXP2):c.-170T>C
|
rs117662905
|
0.00086
|
NM_014491.4(FOXP2):c.*2922T>G
|
rs544333798
|
0.00060
|
NM_014491.4(FOXP2):c.*2018A>G
|
rs768026922
|
0.00056
|
NM_014491.4(FOXP2):c.-335A>G
|
rs531957198
|
0.00049
|
NM_014491.4(FOXP2):c.1371T>C (p.Ile457=)
|
rs61753357
|
0.00046
|
NM_014491.4(FOXP2):c.1770-14A>T
|
rs554154151
|
0.00043
|
NM_014491.4(FOXP2):c.*1868T>C
|
rs760021288
|
0.00041
|
NM_014491.4(FOXP2):c.*236A>G
|
rs775524542
|
0.00038
|
NM_014491.4(FOXP2):c.*3457G>A
|
rs190599917
|
0.00036
|
NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu)
|
rs201649896
|
0.00034
|
NM_014491.4(FOXP2):c.*206T>C
|
rs563988777
|
0.00033
|
NM_014491.4(FOXP2):c.*515A>T
|
rs150361315
|
0.00032
|
NM_014491.4(FOXP2):c.*319A>G
|
rs141343189
|
0.00031
|
NM_014491.4(FOXP2):c.*1944C>T
|
rs142461550
|
0.00030
|
NM_014491.4(FOXP2):c.1266+8C>T
|
rs139649711
|
0.00030
|
NM_014491.4(FOXP2):c.1937A>G (p.Asn646Ser)
|
rs145154396
|
0.00026
|
NM_014491.4(FOXP2):c.*3749C>A
|
rs188138100
|
0.00025
|
NM_014491.4(FOXP2):c.1431G>A (p.Arg477=)
|
rs148518030
|
0.00024
|
NM_014491.4(FOXP2):c.*2302G>A
|
rs192272516
|
0.00021
|
NM_014491.4(FOXP2):c.*2818G>C
|
rs532545326
|
0.00020
|
NM_014491.4(FOXP2):c.*3643T>C
|
rs536004145
|
0.00019
|
NM_014491.4(FOXP2):c.*2029A>G
|
rs769993562
|
0.00017
|
NM_014491.4(FOXP2):c.*366G>A
|
rs745872209
|
0.00015
|
NM_014491.4(FOXP2):c.1770-12T>A
|
rs771960652
|
0.00014
|
NM_014491.4(FOXP2):c.*1947C>T
|
rs777110115
|
0.00013
|
NM_014491.4(FOXP2):c.*1524C>T
|
rs537398392
|
0.00011
|
NM_014491.4(FOXP2):c.*1969T>A
|
rs771063685
|
0.00011
|
NM_014491.4(FOXP2):c.*208T>C
|
rs745705171
|
0.00011
|
NM_014491.4(FOXP2):c.*832A>C
|
rs769641895
|
0.00010
|
NM_014491.4(FOXP2):c.*2017del
|
rs377464931
|
0.00009
|
NM_014491.4(FOXP2):c.598-10C>T
|
rs369461083
|
0.00009
|
NM_014491.4(FOXP2):c.598-1G>C
|
rs752704782
|
0.00009
|
NM_014491.4(FOXP2):c.*2489A>C
|
rs886061930
|
0.00008
|
NM_014491.4(FOXP2):c.*1945G>A
|
rs185964187
|
0.00007
|
NM_014491.4(FOXP2):c.1494T>C (p.Tyr498=)
|
rs191237950
|
0.00007
|
NM_014491.4(FOXP2):c.1264C>T (p.Pro422Ser)
|
rs751931499
|
0.00006
|
NM_014491.4(FOXP2):c.1569G>A (p.Arg523=)
|
rs376776032
|
0.00005
|
NM_014491.4(FOXP2):c.2103C>T (p.Asp701=)
|
rs559347815
|
0.00005
|
NM_014491.4(FOXP2):c.*1598G>A
|
rs753075964
|
0.00004
|
NM_014491.4(FOXP2):c.1686T>C (p.Phe562=)
|
rs372567072
|
0.00004
|
NM_014491.4(FOXP2):c.*1826G>A
|
rs771404418
|
0.00003
|
NM_014491.4(FOXP2):c.*1964C>T
|
rs762401218
|
0.00003
|
NM_014491.4(FOXP2):c.*2558A>G
|
rs886061931
|
0.00003
|
NM_014491.4(FOXP2):c.*3423C>T
|
rs117309491
|
0.00003
|
NM_014491.4(FOXP2):c.-14G>T
|
rs759420480
|
0.00003
|
NM_014491.4(FOXP2):c.-293C>T
|
rs773664240
|
0.00003
|
NM_014491.4(FOXP2):c.1856G>A (p.Ser619Asn)
|
rs757373725
|
0.00003
|
NM_014491.4(FOXP2):c.258+15661C>T
|
rs1339286790
|
0.00003
|
NM_014491.4(FOXP2):c.*1210A>G
|
rs886061927
|
0.00002
|
NM_014491.4(FOXP2):c.*250A>G
|
rs368786145
|
0.00002
|
NM_014491.4(FOXP2):c.*3235T>C
|
rs886061934
|
0.00002
|
NM_014491.4(FOXP2):c.*388G>A
|
rs750669536
|
0.00002
|
NM_014491.4(FOXP2):c.892T>G (p.Ser298Ala)
|
rs138374374
|
0.00002
|
NM_014491.4(FOXP2):c.*107A>G
|
rs763037482
|
0.00001
|
NM_014491.4(FOXP2):c.*1222G>C
|
rs1319688291
|
0.00001
|
NM_014491.4(FOXP2):c.*1675C>A
|
rs886061928
|
0.00001
|
NM_014491.4(FOXP2):c.*1701A>C
|
rs886061929
|
0.00001
|
NM_014491.4(FOXP2):c.*285T>C
|
rs886061923
|
0.00001
|
NM_014491.4(FOXP2):c.*3220A>C
|
rs886061933
|
0.00001
|
NM_014491.4(FOXP2):c.*3608A>G
|
rs886061936
|
0.00001
|
NM_014491.4(FOXP2):c.*3736C>A
|
rs886061937
|
0.00001
|
NM_014491.4(FOXP2):c.*956G>A
|
rs886061926
|
0.00001
|
NM_014491.4(FOXP2):c.-16G>A
|
rs886061914
|
0.00001
|
NM_014491.4(FOXP2):c.-290A>C
|
rs1166508172
|
0.00001
|
NM_014491.4(FOXP2):c.1050G>A (p.Trp350Ter)
|
rs1349250538
|
0.00001
|
NM_014491.4(FOXP2):c.124T>C (p.Ser42Pro)
|
rs942638508
|
0.00001
|
NM_014491.4(FOXP2):c.1344C>T (p.Thr448=)
|
rs1283357982
|
0.00001
|
NM_014491.4(FOXP2):c.1352C>T (p.Thr451Met)
|
rs199776572
|
0.00001
|
NM_014491.4(FOXP2):c.1441G>A (p.Asp481Asn)
|
rs755825043
|
0.00001
|
NM_014491.4(FOXP2):c.1789A>C (p.Asn597His)
|
rs766476648
|
0.00001
|
NM_014491.4(FOXP2):c.342T>C (p.Ser114=)
|
rs886061915
|
0.00001
|
NM_014491.4(FOXP2):c.522A>G (p.Gln174=)
|
rs368614280
|
0.00001
|
NM_014491.4(FOXP2):c.52A>G (p.Asn18Asp)
|
rs763263115
|
0.00001
|
7q22-q31.3 deletion (15 Mb)
|
|
|
7q22-q31.33, 22 Mb deletion
|
|
|
7q31.1-q31.2, 1.57 Mb deletion
|
|
|
7q31.1-q31.2, 6.5 Mb deletion
|
|
|
7q31.1-q31.2, 9.1 Mb deletion
|
|
|
7q31.1-q31.3, 11 Mb deletion
|
|
|
7q31.1-q31.3, 14.8 Mb deletion
|
|
|
7q31.1-q31.3, 15 Mb deletion
|
|
|
7q31.1-q31.3, 16 Mb deletion
|
|
|
7q31.2-q32, 13 Mb deletion
|
|
|
7q31.2-q32, 14 Mb deletion
|
|
|
7q31.2-q32, 15 Mb deletion
|
|
|
7q31.2-q32, 26 Mb deletion
|
|
|
GRCh37/hg19 7q31.1(chr7:113925160..113934427)x1
|
|
|
NC_000007.12:g.111781517_120142536del
|
|
|
NC_000007.12:g.112946520_114520576del
|
|
|
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv
|
|
|
NC_000007.13:g.109049659_111130658del
|
|
|
NM_014491.3(FOXP2):c.618_620dupGCA
|
|
|
NM_014491.4(FOXP2):c.*1415A>T
|
rs1808658457
|
|
NM_014491.4(FOXP2):c.*1585T>C
|
rs1808664980
|
|
NM_014491.4(FOXP2):c.*188CTT[5]
|
rs770516756
|
|
NM_014491.4(FOXP2):c.*2030del
|
rs750710459
|
|
NM_014491.4(FOXP2):c.*203_*204del
|
rs886061918
|
|
NM_014491.4(FOXP2):c.*2191C>T
|
rs114784365
|
|
NM_014491.4(FOXP2):c.*219_*220del
|
rs398005924
|
|
NM_014491.4(FOXP2):c.*220del
|
rs398005924
|
|
NM_014491.4(FOXP2):c.*2261T>C
|
rs1808704401
|
|
NM_014491.4(FOXP2):c.*229dup
|
rs543811999
|
|
NM_014491.4(FOXP2):c.*2449A>G
|
rs1808712530
|
|
NM_014491.4(FOXP2):c.*260del
|
rs752684219
|
|
NM_014491.4(FOXP2):c.*260dup
|
rs752684219
|
|
NM_014491.4(FOXP2):c.*2965T>C
|
rs530179782
|
|
NM_014491.4(FOXP2):c.*2970T>A
|
rs886061932
|
|
NM_014491.4(FOXP2):c.*3279_*3280dup
|
rs777898958
|
|
NM_014491.4(FOXP2):c.*3414G>C
|
rs1036408992
|
|
NM_014491.4(FOXP2):c.*449_*451del
|
rs886061924
|
|
NM_014491.4(FOXP2):c.*686A>G
|
rs1808616479
|
|
NM_014491.4(FOXP2):c.*708T>G
|
rs886061925
|
|
NM_014491.4(FOXP2):c.*96A>G
|
rs765304609
|
|
NM_014491.4(FOXP2):c.-222C>A
|
rs761418050
|
|
NM_014491.4(FOXP2):c.1168_1169del (p.Gln390fs)
|
rs879253771
|
|
NM_014491.4(FOXP2):c.11A>G (p.Glu4Gly)
|
rs1793857952
|
|
NM_014491.4(FOXP2):c.1217T>C (p.Met406Thr)
|
rs1343377230
|
|
NM_014491.4(FOXP2):c.1276G>T (p.Val426Leu)
|
|
|
NM_014491.4(FOXP2):c.131T>C (p.Val44Ala)
|
rs1283187808
|
|
NM_014491.4(FOXP2):c.1426C>T (p.Arg476Ter)
|
rs1178491246
|
|
NM_014491.4(FOXP2):c.1432C>T (p.Arg478Ter)
|
rs1474090446
|
|
NM_014491.4(FOXP2):c.1462T>G (p.Ser488Ala)
|
rs201320940
|
|
NM_014491.4(FOXP2):c.1514C>T (p.Pro505Leu)
|
rs758513311
|
|
NM_014491.4(FOXP2):c.1540del (p.Arg514fs)
|
|
|
NM_014491.4(FOXP2):c.1591T>C (p.Tyr531His)
|
rs879253772
|
|
NM_014491.4(FOXP2):c.1607G>C (p.Arg536Pro)
|
rs758427088
|
|
NM_014491.4(FOXP2):c.1614del (p.Phe538fs)
|
rs2129341028
|
|
NM_014491.4(FOXP2):c.1657C>T (p.Arg553Cys)
|
|
|
NM_014491.4(FOXP2):c.1658G>A (p.Arg553His)
|
rs121908377
|
|
NM_014491.4(FOXP2):c.165G>A (p.Gln55=)
|
rs766616577
|
|
NM_014491.4(FOXP2):c.1661A>G (p.His554Arg)
|
|
|
NM_014491.4(FOXP2):c.1690C>T (p.Arg564Ter)
|
rs2129341954
|
|
NM_014491.4(FOXP2):c.1719G>A (p.Trp573Ter)
|
|
|
NM_014491.4(FOXP2):c.1769+2T>C
|
rs1135401820
|
|
NM_014491.4(FOXP2):c.1770-4dup
|
rs398005923
|
|
NM_014491.4(FOXP2):c.1794A>G (p.Ile598Met)
|
|
|
NM_014491.4(FOXP2):c.183A>G (p.Ala61=)
|
rs747126499
|
|
NM_014491.4(FOXP2):c.1982G>A (p.Gly661Asp)
|
rs529427719
|
|
NM_014491.4(FOXP2):c.199C>G (p.Gln67Glu)
|
rs759949520
|
|
NM_014491.4(FOXP2):c.258+13C>G
|
rs1799294727
|
|
NM_014491.4(FOXP2):c.258+36173G>A
|
rs747951230
|
|
NM_014491.4(FOXP2):c.361C>T (p.Leu121Phe)
|
|
|
NM_014491.4(FOXP2):c.447G>C (p.Gln149His)
|
rs1804788563
|
|
NM_014491.4(FOXP2):c.483ACAACAGCAGCA[3] (p.Gln188_Gln191dup)
|
rs761316361
|
|
NM_014491.4(FOXP2):c.510ACA[4] (p.Gln191del)
|
rs398124272
|
|
NM_014491.4(FOXP2):c.553C>T (p.Gln185Ter)
|
rs1584969672
|
|
NM_014491.4(FOXP2):c.559C>T (p.Gln187Ter)
|
rs2129327570
|
|
NM_014491.4(FOXP2):c.586C>T (p.Gln196Ter)
|
rs1347299046
|
|
NM_014491.4(FOXP2):c.693G>T (p.Gln231His)
|
|
|
NM_014491.4(FOXP2):c.774A>G (p.Gln258=)
|
|
|
NM_014491.4(FOXP2):c.962C>T (p.Ser321Phe)
|
rs944127085
|
|
NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter)
|
rs121908378
|
|
NM_014491.4(FOXP2):c.988A>T (p.Ser330Cys)
|
rs886061916
|
|
NM_014491.4(FOXP2):c.989+6T>A
|
rs1805599792
|
|
NM_018392.5(ZGRF1):c.142C>A (p.Leu48Met)
|
rs61745597
|
|
Uniparental disomy of chromosome 7
|
|
|
t(3;7)(q23;q31.2)
|
|
|
t(5;7)(q22;q31.2)
|
|
|
t(7;13)(q31.1;q13.2)
|
|
|