NM_003640.5(ELP1):c.2204+6T>C
|
rs111033171
|
0.00051
|
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys)
|
rs137853825
|
0.00043
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_000527.5(LDLR):c.1875C>T (p.Asn625=)
|
rs137853962
|
0.00026
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_020533.3(MCOLN1):c.406-2A>G
|
rs104886461
|
0.00009
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
NM_032520.5(GNPTG):c.74C>A (p.Ala25Glu)
|
rs137853826
|
0.00006
|
NM_017882.3(CLN6):c.446G>A (p.Arg149His)
|
rs154774638
|
0.00003
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)
|
rs154774640
|
0.00002
|
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)
|
rs154774634
|
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_000527.5(LDLR):c.1356C>T (p.Cys452=)
|
rs137853961
|
0.00001
|
NM_000527.5(LDLR):c.2061dup (p.Asn688fs)
|
rs137853965
|
0.00001
|
NM_024312.5(GNPTAB):c.961A>G (p.Ser321Gly)
|
rs137853824
|
0.00001
|
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_170707.4(LMNA):c.1044G>T (p.Met348Ile)
|
rs587777892
|
0.00001
|
NM_000041.4(APOE):c.292del (p.Glu98fs)
|
rs527236160
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.653del (p.Gly218fs)
|
rs137853966
|
|
NM_000553.6(WRN):c.3139-1G>C
|
rs113993961
|
|
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe)
|
rs154774635
|
|
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr)
|
rs154774636
|
|
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro)
|
rs154774633
|
|
NM_017882.3(CLN6):c.231C>G (p.Asn77Lys)
|
rs154774641
|
|
NM_017882.3(CLN6):c.712T>A (p.Phe238Ile)
|
rs154774637
|
|
NM_017882.3(CLN6):c.890del (p.Pro297fs)
|
rs154774639
|
|
NM_024312.5(GNPTAB):c.1875C>G (p.Phe625Leu)
|
rs137853823
|
|
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_032485.6(MCM8):c.446C>G (p.Pro149Arg)
|
rs606231343
|
|
NM_032520.5(GNPTG):c.688C>G (p.Leu230Val)
|
rs137853827
|
|
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.3348_3349del (p.Cys1117fs)
|
rs180177327
|
|
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_152564.5(VPS13B):c.9185dup (p.Leu3062fs)
|
rs180177329
|
|
PALB2:c.2515-1G>T
|
rs587776417
|
|