NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_000048.4(ASL):c.524+2T>G
|
rs869312976
|
0.00002
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter)
|
rs180177354
|
0.00002
|
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)
|
rs180177365
|
0.00002
|
NM_024675.4(PALB2):c.156del (p.Glu53fs)
|
rs587776406
|
0.00001
|
NM_024675.4(PALB2):c.2888del (p.Ser963fs)
|
rs587776420
|
0.00001
|
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)
|
rs180177356
|
0.00001
|
NM_000048.3(ASL):c.292delG
|
rs869312987
|
|
NM_000048.4(ASL):c.1122dup (p.Tyr375fs)
|
rs869312993
|
|
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter)
|
rs869312994
|
|
NM_000048.4(ASL):c.175G>A (p.Glu59Lys)
|
rs869312985
|
|
NM_000048.4(ASL):c.257A>C (p.Glu86Ala)
|
rs869312986
|
|
NM_000048.4(ASL):c.461T>C (p.Leu154Pro)
|
rs869312988
|
|
NM_000048.4(ASL):c.575_580dup (p.Lys192_Arg193dup)
|
rs869312989
|
|
NM_000048.4(ASL):c.718+5G>A
|
rs869312990
|
|
NM_000048.4(ASL):c.762C>A (p.Ser254Arg)
|
rs869312991
|
|
NM_000048.4(ASL):c.889C>T (p.Arg297Trp)
|
rs869312992
|
|
NM_000157.4(GBA1):c.1294T>A (p.Trp432Arg)
|
rs1557901552
|
|
NM_001330360.2(POLA1):c.1393-354A>G
|
rs869312979
|
|
NM_014712.3(SETD1A):c.1272del (p.Tyr425fs)
|
rs869312830
|
|
NM_014712.3(SETD1A):c.1938C>G (p.Tyr646Ter)
|
rs770913157
|
|
NM_014712.3(SETD1A):c.2171dup (p.Ala725fs)
|
rs869312832
|
|
NM_014712.3(SETD1A):c.2209C>T (p.Gln737Ter)
|
rs869312831
|
|
NM_014712.3(SETD1A):c.518-2A>G
|
rs869312829
|
|
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)
|
rs587776410
|
|
NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter)
|
rs587776411
|
|
NM_024675.4(PALB2):c.1431del (p.Ser478fs)
|
rs587776412
|
|
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter)
|
rs587776413
|
|
NM_024675.4(PALB2):c.1591_1600del (p.Pro532fs)
|
rs587776414
|
|
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)
|
rs587776415
|
|
NM_024675.4(PALB2):c.2787_2788del (p.Tyr929_Asn930delinsTer)
|
rs587776418
|
|
NM_024675.4(PALB2):c.2834+1G>T
|
rs587776419
|
|
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)
|
rs180177126
|
|
NM_024675.4(PALB2):c.3026del (p.Pro1009fs)
|
rs180177131
|
|
NM_024675.4(PALB2):c.3201+1G>C
|
rs587776423
|
|
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs)
|
rs587776424
|
|
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs)
|
rs587776425
|
|
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)
|
rs587776426
|
|
NM_024675.4(PALB2):c.3497_3498del (p.Gly1166fs)
|
rs587776427
|
|
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)
|
rs587776428
|
|
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter)
|
rs587776407
|
|
NM_024675.4(PALB2):c.48G>A (p.Lys16=)
|
rs587776405
|
|
NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer)
|
rs587776408
|
|
NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer)
|
rs587776409
|
|
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)
|
rs180177371
|
|
NM_152564.5(VPS13B):c.11170G>T (p.Glu3724Ter)
|
rs180177372
|
|
NM_152564.5(VPS13B):c.11489_11490del (p.Tyr3830fs)
|
rs180177373
|
|
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs)
|
rs180177374
|
|
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=)
|
rs180177355
|
|
NM_152564.5(VPS13B):c.2727_2730dup (p.Asn911fs)
|
rs180177357
|
|
NM_152564.5(VPS13B):c.2934+1_2934+2del
|
rs180177358
|
|
NM_152564.5(VPS13B):c.4803_4805dup (p.Tyr1602Ter)
|
rs180177359
|
|
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter)
|
rs180177360
|
|
NM_152564.5(VPS13B):c.4880C>G (p.Ser1627Ter)
|
rs180177361
|
|
NM_152564.5(VPS13B):c.5140_5157del (p.Ser1714_Gln1719del)
|
rs180177362
|
|
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs)
|
rs180177363
|
|
NM_152564.5(VPS13B):c.5386dup (p.Arg1796fs)
|
rs180177364
|
|
NM_152564.5(VPS13B):c.7078G>T (p.Glu2360Ter)
|
rs180177368
|
|
NM_152564.5(VPS13B):c.7247_7247+1delinsATGGAGC
|
rs180177367
|
|
NM_152564.5(VPS13B):c.8217C>A (p.Cys2739Ter)
|
rs180177369
|
|
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu)
|
rs180177370
|
|
NM_177987.3(TUBB8):c.1088T>C (p.Met363Thr)
|
rs869025611
|
|
NM_177987.3(TUBB8):c.1249G>A (p.Asp417Asn)
|
rs869025272
|
|
NM_177987.3(TUBB8):c.527C>T (p.Ser176Leu)
|
rs869025609
|
|
NM_177987.3(TUBB8):c.5G>A (p.Arg2Lys)
|
rs869025273
|
|
NM_177987.3(TUBB8):c.686T>C (p.Val229Ala)
|
rs869025271
|
|
NM_177987.3(TUBB8):c.785G>A (p.Arg262Gln)
|
rs869025610
|
|
NM_177987.3(TUBB8):c.900G>A (p.Met300Ile)
|
rs869025612
|
|
PALB2:c.2515-1G>T
|
rs587776417
|
|