NM_001164508.2(NEB):c.3255+1G>A
|
rs375628303
|
0.00006
|
NM_001164508.2(NEB):c.9619-2A>G
|
rs375145370
|
0.00004
|
NM_001164508.2(NEB):c.12018+1G>A
|
rs762278237
|
0.00003
|
NM_001164508.2(NEB):c.19836+1G>A
|
rs1446930968
|
0.00003
|
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)
|
rs749452641
|
0.00003
|
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)
|
rs776569219
|
0.00002
|
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)
|
rs1057517977
|
0.00002
|
NM_001164508.2(NEB):c.1152+1G>A
|
rs398124167
|
0.00001
|
NM_001164508.2(NEB):c.17118+1G>A
|
rs747946275
|
0.00001
|
NM_001164508.2(NEB):c.17262G>A (p.Trp5754Ter)
|
rs1057518200
|
0.00001
|
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter)
|
rs1553740233
|
0.00001
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
NM_001164508.2(NEB):c.5574C>G (p.Tyr1858Ter)
|
rs781185019
|
0.00001
|
NM_001164508.2(NEB):c.78+1G>A
|
rs778593702
|
0.00001
|
GRCh37/hg19 2q23.3(chr2:152434811-152466339)x1
|
|
|
NM_001164508.2(NEB):c.11184del (p.Lys3728fs)
|
rs1553901624
|
|
NM_001164508.2(NEB):c.11585_11586insG (p.Tyr3862Ter)
|
rs2153991581
|
|
NM_001164508.2(NEB):c.11806-1G>A
|
rs886041851
|
|
NM_001164508.2(NEB):c.12221dup (p.Thr4075fs)
|
rs1553883480
|
|
NM_001164508.2(NEB):c.12262G>T (p.Glu4088Ter)
|
rs1356997734
|
|
NM_001164508.2(NEB):c.1266T>A (p.Tyr422Ter)
|
rs2149360884
|
|
NM_001164508.2(NEB):c.13788+1G>A
|
rs1553862061
|
|
NM_001164508.2(NEB):c.14747_14748del (p.Lys4916fs)
|
rs2153875539
|
|
NM_001164508.2(NEB):c.1569+1G>A
|
rs1553605553
|
|
NM_001164508.2(NEB):c.1570-2A>G
|
rs1553603958
|
|
NM_001164508.2(NEB):c.15781G>T (p.Glu5261Ter)
|
rs1391372707
|
|
NM_001164508.2(NEB):c.16620T>A (p.Tyr5540Ter)
|
rs886041998
|
|
NM_001164508.2(NEB):c.16704+1G>A
|
rs1227806763
|
|
NM_001164508.2(NEB):c.17233C>T (p.Arg5745Ter)
|
rs1427371913
|
|
NM_001164508.2(NEB):c.17541dup (p.Tyr5848fs)
|
rs886043631
|
|
NM_001164508.2(NEB):c.17557_17558del (p.Glu5853fs)
|
rs886044005
|
|
NM_001164508.2(NEB):c.18157-2A>G
|
rs925947627
|
|
NM_001164508.2(NEB):c.18830_18831del (p.Thr6277fs)
|
rs1553762626
|
|
NM_001164508.2(NEB):c.18862_18872del (p.Val6288fs)
|
rs886042141
|
|
NM_001164508.2(NEB):c.19078C>T (p.Gln6360Ter)
|
rs2153703181
|
|
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter)
|
rs777819332
|
|
NM_001164508.2(NEB):c.2065dup (p.Tyr689fs)
|
rs1576517390
|
|
NM_001164508.2(NEB):c.2836-2A>G
|
rs1208297049
|
|
NM_001164508.2(NEB):c.3084C>G (p.Tyr1028Ter)
|
rs2099402392
|
|
NM_001164508.2(NEB):c.3255+1G>T
|
rs375628303
|
|
NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs)
|
rs1463906422
|
|
NM_001164508.2(NEB):c.3726dup (p.Ser1243fs)
|
rs2154209614
|
|
NM_001164508.2(NEB):c.3987+1G>A
|
rs780022652
|
|
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG
|
rs786204576
|
|
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)
|
rs1057517360
|
|
NM_001164508.2(NEB):c.4417C>T (p.Arg1473Ter)
|
rs2099279723
|
|
NM_001164508.2(NEB):c.4549_4553del (p.Tyr1516_Thr1517insTer)
|
rs2154185721
|
|
NM_001164508.2(NEB):c.4602del (p.Asn1534fs)
|
rs2154185591
|
|
NM_001164508.2(NEB):c.5722del (p.Ser1908fs)
|
rs1553484601
|
|
NM_001164508.2(NEB):c.5768del (p.Gln1923fs)
|
rs2154169021
|
|
NM_001164508.2(NEB):c.612+1G>A
|
rs1202331107
|
|
NM_001164508.2(NEB):c.6184-2A>G
|
rs1575300582
|
|
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter)
|
rs80344795
|
|
NM_001164508.2(NEB):c.739del (p.Ala247fs)
|
rs2150350376
|
|
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs)
|
rs878854368
|
|
NM_001164508.2(NEB):c.7966A>T (p.Lys2656Ter)
|
rs745420110
|
|
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)
|
rs398124172
|
|
NM_001164508.2(NEB):c.8265+1G>A
|
rs1131691547
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
NM_001164508.2(NEB):c.9505G>T (p.Glu3169Ter)
|
rs370265998
|
|