NM_001163435.3(TBCK):c.796C>G (p.Gln266Glu)
|
rs3775091
|
0.99817
|
NM_001163435.3(TBCK):c.1898-20G>T
|
rs45462491
|
0.00895
|
NM_001163435.3(TBCK):c.974T>C (p.Val325Ala)
|
rs145386125
|
0.00103
|
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)
|
rs575822089
|
0.00023
|
NM_001163435.3(TBCK):c.1804G>A (p.Ala602Thr)
|
rs150221832
|
0.00008
|
NM_001163435.3(TBCK):c.2060-2A>G
|
rs62321379
|
0.00005
|
NM_001163435.3(TBCK):c.2368A>G (p.Ser790Gly)
|
rs149002761
|
0.00005
|
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter)
|
rs376699648
|
0.00003
|
NM_001163435.3(TBCK):c.2284C>T (p.Arg762Trp)
|
rs748323368
|
0.00003
|
NM_001163435.3(TBCK):c.2420G>C (p.Arg807Pro)
|
rs767308208
|
0.00003
|
NM_001163435.3(TBCK):c.1897+1G>A
|
rs374319146
|
0.00002
|
NM_001163435.3(TBCK):c.2428A>G (p.Ile810Val)
|
rs775830620
|
0.00002
|
NM_001163435.3(TBCK):c.658+4A>G
|
rs745752734
|
0.00002
|
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe)
|
rs370050799
|
0.00001
|
NM_001163435.3(TBCK):c.2370T>G (p.Ser790Arg)
|
rs1176913216
|
0.00001
|
NM_001163435.3(TBCK):c.389T>A (p.Ile130Asn)
|
rs1213724402
|
0.00001
|
NM_001163435.3(TBCK):c.456-2A>G
|
rs780527809
|
0.00001
|
NM_001163435.3(TBCK):c.60A>C (p.Pro20=)
|
rs775570874
|
0.00001
|
GRCh37/hg19 4q24(chr4:107092252-107092428)
|
|
|
GRCh38/hg38 4q24(chr4:106170998-106171368)x0
|
|
|
NC_000004.12:g.106168703_106217941del
|
|
|
NM_001163435.2(TBCK):c.2060-9050_2235+26133del
|
|
|
NM_001163435.3(TBCK):c.110A>T (p.Lys37Ile)
|
rs755840392
|
|
NM_001163435.3(TBCK):c.1162C>A (p.Leu388Ile)
|
rs773606670
|
|
NM_001163435.3(TBCK):c.1170+1G>A
|
rs765407874
|
|
NM_001163435.3(TBCK):c.1220+5G>A
|
rs1759516319
|
|
NM_001163435.3(TBCK):c.1259T>A (p.Leu420Ter)
|
rs2150010400
|
|
NM_001163435.3(TBCK):c.1322G>A (p.Arg441Lys)
|
rs1579346494
|
|
NM_001163435.3(TBCK):c.134T>G (p.Leu45Arg)
|
|
|
NM_001163435.3(TBCK):c.1351-1G>A
|
rs1759337270
|
|
NM_001163435.3(TBCK):c.1370del (p.Asn457fs)
|
rs746860249
|
|
NM_001163435.3(TBCK):c.1370dup (p.Asn457fs)
|
rs746860249
|
|
NM_001163435.3(TBCK):c.1381A>G (p.Lys461Glu)
|
|
|
NM_001163435.3(TBCK):c.1405C>G (p.Pro469Ala)
|
|
|
NM_001163435.3(TBCK):c.1532G>A (p.Arg511His)
|
rs869320711
|
|
NM_001163435.3(TBCK):c.1584dup (p.Arg529Ter)
|
rs1759036277
|
|
NM_001163435.3(TBCK):c.1588C>T (p.Arg530Cys)
|
|
|
NM_001163435.3(TBCK):c.1727_1728insGAAGTT (p.Lys576_Tyr577insLysLeu)
|
|
|
NM_001163435.3(TBCK):c.1771C>T (p.Gln591Ter)
|
rs1057518332
|
|
NM_001163435.3(TBCK):c.1854del (p.Pro619fs)
|
rs1579257340
|
|
NM_001163435.3(TBCK):c.1860+1G>A
|
rs1303851095
|
|
NM_001163435.3(TBCK):c.1860+2T>A
|
|
|
NM_001163435.3(TBCK):c.1878G>T (p.Trp626Cys)
|
rs1579198447
|
|
NM_001163435.3(TBCK):c.1880T>G (p.Phe627Cys)
|
rs1579198426
|
|
NM_001163435.3(TBCK):c.1888_1889del (p.Met630fs)
|
|
|
NM_001163435.3(TBCK):c.193+1G>T
|
rs1767828321
|
|
NM_001163435.3(TBCK):c.193+2dup
|
|
|
NM_001163435.3(TBCK):c.2060-6793_2235+427del
|
|
|
NM_001163435.3(TBCK):c.2060_2235+1del
|
rs1560755661
|
|
NM_001163435.3(TBCK):c.2060_2235del (p.Glu687fs)
|
rs2149737591
|
|
NM_001163435.3(TBCK):c.2088A>C (p.Glu696Asp)
|
rs1750972768
|
|
NM_001163435.3(TBCK):c.2130C>G (p.Tyr710Ter)
|
rs1750962854
|
|
NM_001163435.3(TBCK):c.2143C>T (p.Gln715Ter)
|
rs1750958862
|
|
NM_001163435.3(TBCK):c.347C>T (p.Ala116Val)
|
rs2150100848
|
|
NM_001163435.3(TBCK):c.360_363del (p.His120fs)
|
rs1560929669
|
|
NM_001163435.3(TBCK):c.381+1G>A
|
rs1762560983
|
|
NM_001163435.3(TBCK):c.454G>C (p.Gly152Arg)
|
rs1762393554
|
|
NM_001163435.3(TBCK):c.468C>G (p.Tyr156Ter)
|
|
|
NM_001163435.3(TBCK):c.531dup (p.Pro178fs)
|
rs1560911619
|
|
NM_001163435.3(TBCK):c.557A>G (p.Asp186Gly)
|
rs2150065916
|
|
NM_001163435.3(TBCK):c.659-1G>A
|
rs1579391376
|
|
NM_001163435.3(TBCK):c.677T>A (p.Leu226Ter)
|
rs758167759
|
|
NM_001163435.3(TBCK):c.737_738del (p.Val246fs)
|
rs2150053706
|
|
NM_001163435.3(TBCK):c.753dup (p.Lys252Ter)
|
rs1131691329
|
|
NM_001163435.3(TBCK):c.783G>T (p.Arg261Ser)
|
rs1476004978
|
|
NM_001163435.3(TBCK):c.803_806del (p.Met268fs)
|
rs771481304
|
|
NM_001163435.3(TBCK):c.831_832insTA (p.Pro278fs)
|
rs869320769
|
|