NM_000344.4(SMN1):c.5C>G (p.Ala2Gly)
|
rs1554066397
|
0.00571
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)
|
rs114368325
|
0.00079
|
NM_005199.5(CHRNG):c.459dup (p.Val154fs)
|
rs774279192
|
0.00048
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)
|
rs111033199
|
0.00019
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)
|
rs747067203
|
0.00011
|
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)
|
rs104894419
|
0.00007
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)
|
rs114073621
|
0.00002
|
NM_000344.4(SMN1):c.835-3C>T
|
rs772466166
|
0.00001
|
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter)
|
rs777947329
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_006031.6(PCNT):c.2728C>T (p.Gln910Ter)
|
rs869312917
|
0.00001
|
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs)
|
rs869312929
|
0.00001
|
NC_000006.12:g.(?_10875891)_(10881865_?)del
|
|
|
NC_000013.11:g.(?_90698351)_(90699137_?)del
|
|
|
NC_000019.10:g.(?_11200038)_(11200291_?)del
|
|
|
NC_000023.10:g.(?_154379237)_(154381523_?)del
|
|
|
NM_000116.5(TAFAZZIN):c.110-2A>G
|
rs1603376833
|
|
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter)
|
rs1603377945
|
|
NM_000116.5(TAFAZZIN):c.461-2A>G
|
rs876661038
|
|
NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
|
|
|
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)
|
rs132630277
|
|
NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs)
|
|
|
NM_000116.5(TAFAZZIN):c.777+1G>A
|
rs2068606932
|
|
NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs)
|
|
|
NM_000117.3(EMD):c.121_155del (p.Tyr41fs)
|
rs1557182286
|
|
NM_000117.3(EMD):c.130C>T (p.Gln44Ter)
|
rs132630262
|
|
NM_000117.3(EMD):c.187+1G>T
|
rs794729010
|
|
NM_000117.3(EMD):c.251_255del (p.Leu84fs)
|
rs782452523
|
|
NM_000117.3(EMD):c.419T>A (p.Leu140Ter)
|
rs1057524848
|
|
NM_000117.3(EMD):c.512C>A (p.Ser171Ter)
|
rs886044901
|
|
NM_000117.3(EMD):c.621del (p.Pro208fs)
|
rs1557182670
|
|
NM_000117.3(EMD):c.674_678del (p.Leu225fs)
|
rs1557182692
|
|
NM_000117.3(EMD):c.82+1G>T
|
rs1557182214
|
|
NM_000344.3(SMN1):c.274_284del11
|
rs1561499612
|
|
NM_000344.4(SMN1):c.283G>C (p.Gly95Arg)
|
rs104893927
|
|
NM_000344.4(SMN1):c.305G>A (p.Trp102Ter)
|
rs77804083
|
|
NM_000344.4(SMN1):c.332C>G (p.Ala111Gly)
|
rs104893935
|
|
NM_000344.4(SMN1):c.399_402del (p.Glu134fs)
|
rs77668214
|
|
NM_000344.4(SMN1):c.419A>T (p.Asp140Val)
|
rs1554081968
|
|
NM_000344.4(SMN1):c.48_55dup (p.Val19fs)
|
rs1561498701
|
|
NM_000344.4(SMN1):c.510_511del (p.Ser170fs)
|
rs1561499720
|
|
NM_000344.4(SMN1):c.570G>A (p.Trp190Ter)
|
rs1561499737
|
|
NM_000344.4(SMN1):c.584del (p.Pro195fs)
|
rs1561499748
|
|
NM_000344.4(SMN1):c.724-2A>G
|
rs1561500842
|
|
NM_000344.4(SMN1):c.770_780dup (p.Gly261fs)
|
rs1561500847
|
|
NM_000344.4(SMN1):c.801G>A (p.Trp267Ter)
|
|
|
NM_000344.4(SMN1):c.835-2A>G
|
rs141760116
|
|
NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter)
|
rs1554081950
|
|
NM_000388.4(CASR):c.428G>A (p.Gly143Glu)
|
rs121909264
|
|
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)
|
rs104893689
|
|
NM_000441.2(SLC26A4):c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC (p.Phe385_Ile386delinsSerAlaThrSerSerGlnAspSerSerLeu)
|
|
|
NM_000527.4(LDLR):c.(1705+1_1706-1)_(2140+1_2141-1)del
|
|
|
NM_000782.5(CYP24A1):c.364G>T (p.Glu122Ter)
|
|
|
NM_000782.5(CYP24A1):c.641-1G>A
|
|
|
NM_001079668.3(NKX2-1):c.196del (p.Ala66fs)
|
|
|
NM_001079668.3(NKX2-1):c.216del (p.Arg72fs)
|
|
|
NM_001079668.3(NKX2-1):c.336_345del (p.Val113fs)
|
|
|
NM_001079668.3(NKX2-1):c.344del (p.Gly115fs)
|
rs587776709
|
|
NM_001079668.3(NKX2-1):c.423del (p.Gly142fs)
|
|
|
NM_001079668.3(NKX2-1):c.456_457delinsACGG (p.Phe152fs)
|
|
|
NM_001079668.3(NKX2-1):c.464-2A>G
|
rs587776708
|
|
NM_001079668.3(NKX2-1):c.464-9C>A
|
|
|
NM_001079668.3(NKX2-1):c.474del (p.Phe158fs)
|
|
|
NM_001079668.3(NKX2-1):c.583del (p.Arg195fs)
|
|
|
NM_001079668.3(NKX2-1):c.612C>A (p.Tyr204Ter)
|
|
|
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter)
|
rs137852693
|
|
NM_001079668.3(NKX2-1):c.617T>A (p.Leu206Gln)
|
rs1555349221
|
|
NM_001079668.3(NKX2-1):c.622C>T (p.Arg208Ter)
|
|
|
NM_001079668.3(NKX2-1):c.647del (p.Leu216fs)
|
|
|
NM_001079668.3(NKX2-1):c.650C>A (p.Ser217Ter)
|
|
|
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter)
|
rs1555349209
|
|
NM_001079668.3(NKX2-1):c.711C>G (p.Ile237Met)
|
|
|
NM_001110792.2(MECP2):c.1060_1061insAG (p.Pro354fs)
|
rs1060499620
|
|
NM_001110792.2(MECP2):c.1065del (p.Arg356fs)
|
rs61751457
|
|
NM_001110792.2(MECP2):c.1125_1165del (p.Lys376fs)
|
rs1064792898
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1194_*261del (p.Pro399fs)
|
rs1557134621
|
|
NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs)
|
rs267608333
|
|
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter)
|
rs267608438
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.714del (p.Gln239fs)
|
rs1060499621
|
|
NM_001110792.2(MECP2):c.746dup (p.Gly250fs)
|
rs61749743
|
|
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs)
|
rs267608520
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.801_1194del (p.Lys268fs)
|
rs1557135734
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
|
rs121908595
|
|
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)
|
rs397507549
|
|
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)
|
rs121918470
|
|
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)
|
rs121918460
|
|
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)
|
rs121918466
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)
|
rs180177039
|
|
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)
|
rs180177035
|
|
NM_004752.4(GCM2):c.408C>A (p.Tyr136Ter)
|
rs1554103179
|
|
NM_004752.4(GCM2):c.456+2dup
|
rs759190203
|
|
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)
|
rs104894366
|
|
NM_005199.5(CHRNG):c.420G>A (p.Trp140Ter)
|
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
NM_005343.4(HRAS):c.35G>T (p.Gly12Val)
|
rs104894230
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)
|
rs104894226
|
|
NM_005378.6(MYCN):c.1014C>A (p.Tyr338Ter)
|
rs367962377
|
|
NM_005378.6(MYCN):c.1061dup (p.Ser355fs)
|
rs1553370963
|
|
NM_005378.6(MYCN):c.68_71dup (p.Gln25fs)
|
rs1553370260
|
|
NM_005378.6(MYCN):c.902_903del (p.Val301fs)
|
rs1553370918
|
|
NM_005378.6(MYCN):c.964C>T (p.Arg322Ter)
|
rs759103701
|
|
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys)
|
rs397517159
|
|
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)
|
rs137852813
|
|
NM_005676.5(RBM10):c.159del (p.Lys54fs)
|
rs1556770954
|
|
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)
|
rs77975504
|
|
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)
|
rs121912637
|
|
NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs)
|
rs759838407
|
|