NM_000127.3(EXT1):c.1761G>A (p.Glu587=)
|
rs7837891
|
0.36094
|
NM_207122.2(EXT2):c.1080-18T>A
|
rs11037882
|
0.26140
|
NM_207122.2(EXT2):c.1936-41T>C
|
rs3740878
|
0.23855
|
NM_000127.3(EXT1):c.1065C>T (p.Cys355=)
|
rs11546829
|
0.23625
|
NM_000127.3(EXT1):c.1431C>T (p.Pro477=)
|
rs17439693
|
0.17547
|
NM_000127.3(EXT1):c.114A>G (p.Glu38=)
|
rs17506447
|
0.01623
|
NM_207122.2(EXT2):c.124A>G (p.Met42Val)
|
rs4755779
|
0.01478
|
NM_207122.2(EXT2):c.264C>T (p.His88=)
|
rs35455466
|
0.01345
|
NM_207122.2(EXT2):c.1761G>A (p.Thr587=)
|
rs16937864
|
0.01303
|
NM_207122.2(EXT2):c.999T>C (p.Asp333=)
|
rs61733300
|
0.01271
|
NM_207122.2(EXT2):c.1174-18G>T
|
rs143595300
|
0.01161
|
NM_207122.2(EXT2):c.1017T>C (p.Cys339=)
|
rs11828047
|
0.00930
|
NM_000127.3(EXT1):c.117A>G (p.Glu39=)
|
rs78429222
|
0.00558
|
NM_000127.3(EXT1):c.1959G>A (p.Glu653=)
|
rs142710059
|
0.00404
|
NM_207122.2(EXT2):c.918C>T (p.Phe306=)
|
rs35436405
|
0.00139
|
NM_000127.3(EXT1):c.1633-26C>A
|
rs188609829
|
0.00123
|
NM_000127.3(EXT1):c.1782G>A (p.Ala594=)
|
rs61753261
|
0.00058
|
NM_000127.3(EXT1):c.1779C>T (p.Pro593=)
|
rs143881630
|
0.00056
|
NM_207122.2(EXT2):c.1087G>A (p.Val363Met)
|
rs138943091
|
0.00046
|
NM_000127.3(EXT1):c.1536+7G>A
|
rs200128437
|
0.00041
|
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile)
|
rs61753260
|
0.00024
|
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser)
|
rs368382074
|
0.00012
|
NM_000127.3(EXT1):c.1284+25G>A
|
rs375754024
|
0.00010
|
NM_000127.3(EXT1):c.748T>A (p.Phe250Ile)
|
rs920291906
|
0.00007
|
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile)
|
rs201504622
|
0.00002
|
NM_000127.3(EXT1):c.2072G>A (p.Arg691His)
|
rs746678682
|
0.00002
|
NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr)
|
rs530523884
|
0.00001
|
GRCh37/hg19 8q24.11(chr8:118825108-119054752)x3
|
|
|
GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1
|
|
|
NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp)
|
rs119103288
|
|
NM_000127.3(EXT1):c.1018C>G (p.Arg340Gly)
|
rs119103290
|
|
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys)
|
rs119103290
|
|
NM_000127.3(EXT1):c.1019G>A (p.Arg340His)
|
rs119103287
|
|
NM_000127.3(EXT1):c.1019G>T (p.Arg340Leu)
|
rs119103287
|
|
NM_000127.3(EXT1):c.1049_1056+1del
|
|
|
NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter)
|
|
|
NM_000127.3(EXT1):c.1225C>T (p.Gln409Ter)
|
|
|
NM_000127.3(EXT1):c.1388del (p.Gly463fs)
|
|
|
NM_000127.3(EXT1):c.1418-2A>G
|
rs1554578802
|
|
NM_000127.3(EXT1):c.1468dup (p.Leu490fs)
|
rs886039355
|
|
NM_000127.3(EXT1):c.1469del (p.Leu490fs)
|
rs886039356
|
|
NM_000127.3(EXT1):c.1477C>T (p.Gln493Ter)
|
rs1811890821
|
|
NM_000127.3(EXT1):c.1481C>T (p.Ser494Phe)
|
|
|
NM_000127.3(EXT1):c.1645C>T (p.Arg549Cys)
|
|
|
NM_000127.3(EXT1):c.1656del (p.Tyr553fs)
|
rs1823353269
|
|
NM_000127.3(EXT1):c.165G>A (p.Trp55Ter)
|
rs1586280132
|
|
NM_000127.3(EXT1):c.1664dup (p.Asn555fs)
|
rs1586993159
|
|
NM_000127.3(EXT1):c.1702_1703dup (p.Val569fs)
|
|
|
NM_000127.3(EXT1):c.1722+1G>C
|
|
|
NM_000127.3(EXT1):c.1723-2A>T
|
rs1823255835
|
|
NM_000127.3(EXT1):c.1884-3C>G
|
rs2129694265
|
|
NM_000127.3(EXT1):c.2055+52_*298del
|
|
|
NM_000127.3(EXT1):c.2077del (p.Ala693fs)
|
rs1823138986
|
|
NM_000127.3(EXT1):c.2098C>A (p.Gln700Lys)
|
|
|
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter)
|
rs1363815113
|
|
NM_000127.3(EXT1):c.2143A>G (p.Met715Val)
|
rs1225915837
|
|
NM_000127.3(EXT1):c.2194C>T (p.Gln732Ter)
|
|
|
NM_000127.3(EXT1):c.2198_2203delinsAAGAGGACGGTCTT (p.Val733fs)
|
rs2129679465
|
|
NM_000127.3(EXT1):c.301G>T (p.Glu101Ter)
|
|
|
NM_000127.3(EXT1):c.357C>A (p.Tyr119Ter)
|
rs119103289
|
|
NM_000127.3(EXT1):c.398del (p.Asn133fs)
|
|
|
NM_000127.3(EXT1):c.416_419dup (p.Ser141fs)
|
rs2130043564
|
|
NM_000127.3(EXT1):c.4C>T (p.Gln2Ter)
|
rs1817895168
|
|
NM_000127.3(EXT1):c.521del (p.Asn173_Leu174insTer)
|
rs1554601526
|
|
NM_000127.3(EXT1):c.611_614dup (p.Glu205fs)
|
rs2130042673
|
|
NM_000127.3(EXT1):c.651_665delinsTT (p.Lys218fs)
|
|
|
NM_000127.3(EXT1):c.654A>C (p.Lys218Asn)
|
|
|
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter)
|
rs1817893036
|
|
NM_000127.3(EXT1):c.713del (p.Ser238fs)
|
rs2130042099
|
|
NM_000127.3(EXT1):c.844G>A (p.Ala282Thr)
|
|
|
NM_000127.3(EXT1):c.962+1G>C
|
rs886039353
|
|
NM_000127.3(EXT1):c.962+3_962+6del
|
rs1586279285
|
|
NM_000127.3(EXT1):c.976del (p.Glu326fs)
|
|
|
NM_207122.2(EXT2):c.28C>A (p.Arg10=)
|
rs4755228
|
|
NM_207122.2(EXT2):c.519G>C (p.Ala173=)
|
rs148121594
|
|