NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys)
|
rs375399468
|
0.00006
|
NM_000341.4(SLC3A1):c.1414C>T (p.Leu472Phe)
|
rs373176089
|
0.00002
|
NM_000341.4(SLC3A1):c.1113C>A (p.Tyr371Ter)
|
rs768467260
|
0.00001
|
NM_000341.4(SLC3A1):c.1332+2T>A
|
rs758627758
|
0.00001
|
NM_000341.4(SLC3A1):c.2011C>T (p.Arg671Ter)
|
rs1361526419
|
0.00001
|
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
0.00001
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
NM_005585.5(SMAD6):c.1416G>A (p.Trp472Ter)
|
rs1432193098
|
0.00001
|
NM_005585.5(SMAD6):c.345G>A (p.Trp115Ter)
|
rs1231501584
|
0.00001
|
NM_005585.5(SMAD6):c.696G>A (p.Trp232Ter)
|
rs759094719
|
0.00001
|
NM_014270.5(SLC7A9):c.1399+2dup
|
rs755715459
|
0.00001
|
NM_014270.5(SLC7A9):c.525del (p.Ser174_Tyr175insTer)
|
rs1568530415
|
0.00001
|
NM_000019.4(ACAT1):c.1117A>T (p.Lys373Ter)
|
rs2134791703
|
|
NM_000019.4(ACAT1):c.252del (p.Glu85fs)
|
rs2135336077
|
|
NM_000113.3(TOR1A):c.214C>T (p.Gln72Ter)
|
rs2131007486
|
|
NM_000267.3(NF1):c.6756+2_6763del
|
rs1597845213
|
|
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter)
|
rs876657715
|
|
NM_000341.4(SLC3A1):c.1012-1G>A
|
rs769712061
|
|
NM_000341.4(SLC3A1):c.1084C>G (p.Arg362Gly)
|
rs375399468
|
|
NM_000341.4(SLC3A1):c.1365del (p.Arg456fs)
|
rs779941675
|
|
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu)
|
rs368796166
|
|
NM_000552.5(VWF):c.6963del (p.Glu2322fs)
|
rs2136375523
|
|
NM_000642.3(AGL):c.2681+5G>C
|
rs1249689678
|
|
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)
|
rs1555610903
|
|
NM_001042492.3(NF1):c.1198C>T (p.Gln400Ter)
|
rs1597682751
|
|
NM_001042492.3(NF1):c.1603C>T (p.Gln535Ter)
|
rs1567843917
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.1992dup (p.Ser665fs)
|
rs1597710824
|
|
NM_001042492.3(NF1):c.2002-1G>C
|
rs1555613743
|
|
NM_001042492.3(NF1):c.2019C>A (p.Cys673Ter)
|
rs146624509
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter)
|
rs1597712392
|
|
NM_001042492.3(NF1):c.205-1G>T
|
rs1555605362
|
|
NM_001042492.3(NF1):c.289C>T (p.Gln97Ter)
|
rs1597635615
|
|
NM_001042492.3(NF1):c.2947del (p.His982_Leu983insTer)
|
rs1597716380
|
|
NM_001042492.3(NF1):c.3113+1G>A
|
rs267606599
|
|
NM_001042492.3(NF1):c.3187_3188insTA (p.Cys1063fs)
|
rs1597717684
|
|
NM_001042492.3(NF1):c.3712G>T (p.Glu1238Ter)
|
rs1060500346
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001042492.3(NF1):c.4183_4186del (p.Gln1395fs)
|
rs2151461771
|
|
NM_001042492.3(NF1):c.4236_4237del (p.Arg1412fs)
|
rs2151461956
|
|
NM_001042492.3(NF1):c.4756_4772del (p.Ala1586fs)
|
rs1597753208
|
|
NM_001042492.3(NF1):c.499_502del (p.Cys167fs)
|
rs786201874
|
|
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter)
|
rs1131691994
|
|
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)
|
rs1597829906
|
|
NM_001042492.3(NF1):c.5046delinsGGTTAC (p.Cys1682fs)
|
rs1597829913
|
|
NM_001042492.3(NF1):c.5130del (p.Cys1711fs)
|
rs1597830078
|
|
NM_001042492.3(NF1):c.5199dup (p.Glu1734fs)
|
rs1597830232
|
|
NM_001042492.3(NF1):c.5392C>T (p.Gln1798Ter)
|
rs1597832043
|
|
NM_001042492.3(NF1):c.5697T>A (p.Cys1899Ter)
|
rs1597834760
|
|
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)
|
rs137854552
|
|
NM_001042492.3(NF1):c.5980_5983del (p.Ala1994fs)
|
rs1597840291
|
|
NM_001042492.3(NF1):c.6225G>A (p.Trp2075Ter)
|
rs1555534677
|
|
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)
|
rs1597843186
|
|
NM_001042492.3(NF1):c.643del (p.Ser215fs)
|
rs1597658192
|
|
NM_001042492.3(NF1):c.654+1G>A
|
rs1060500245
|
|
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)
|
rs876658541
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
NM_001042492.3(NF1):c.731-2A>C
|
rs1555608924
|
|
NM_001042492.3(NF1):c.786_787insTT (p.Lys263fs)
|
rs1597659879
|
|
NM_001042492.3(NF1):c.7898del (p.Glu2633fs)
|
rs1597866854
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
NM_001875.5(CPS1):c.1164+2T>C
|
rs2106113312
|
|
NM_004991.4(MECOM):c.2905C>T (p.Arg969Cys)
|
rs2148891037
|
|
NM_004991.4(MECOM):c.2906G>A (p.Arg969His)
|
rs2148891008
|
|
NM_005585.5(SMAD6):c.1010G>A (p.Trp337Ter)
|
rs753110746
|
|
NM_005585.5(SMAD6):c.1012G>T (p.Glu338Ter)
|
rs2140681185
|
|
NM_005585.5(SMAD6):c.1012del (p.Glu338fs)
|
rs2140681173
|
|
NM_005585.5(SMAD6):c.106dup (p.Asp36fs)
|
rs1595756416
|
|
NM_005585.5(SMAD6):c.1099dup (p.Cys367fs)
|
rs2140681497
|
|
NM_005585.5(SMAD6):c.1132G>T (p.Glu378Ter)
|
rs751622656
|
|
NM_005585.5(SMAD6):c.1227del (p.Ile410fs)
|
rs2140681839
|
|
NM_005585.5(SMAD6):c.1285A>T (p.Lys429Ter)
|
rs1894566397
|
|
NM_005585.5(SMAD6):c.1305dup (p.Ile436fs)
|
rs1255802415
|
|
NM_005585.5(SMAD6):c.1309A>T (p.Lys437Ter)
|
rs746469222
|
|
NM_005585.5(SMAD6):c.1324G>T (p.Glu442Ter)
|
rs778302338
|
|
NM_005585.5(SMAD6):c.136del (p.Ala46fs)
|
rs2140580751
|
|
NM_005585.5(SMAD6):c.1419del (p.Cys475fs)
|
rs1894573824
|
|
NM_005585.5(SMAD6):c.165C>A (p.Cys55Ter)
|
rs755868380
|
|
NM_005585.5(SMAD6):c.217G>T (p.Gly73Ter)
|
rs1893025235
|
|
NM_005585.5(SMAD6):c.223C>T (p.Arg75Ter)
|
rs1595756640
|
|
NM_005585.5(SMAD6):c.231_255del (p.Gly81fs)
|
rs1893025784
|
|
NM_005585.5(SMAD6):c.232_250del (p.Gln78fs)
|
rs965061234
|
|
NM_005585.5(SMAD6):c.243del (p.Arg82fs)
|
rs2140581013
|
|
NM_005585.5(SMAD6):c.24del (p.Leu9fs)
|
rs2140580364
|
|
NM_005585.5(SMAD6):c.263del (p.Gly88fs)
|
rs1199495614
|
|
NM_005585.5(SMAD6):c.269dup (p.Arg91fs)
|
rs1006397889
|
|
NM_005585.5(SMAD6):c.283del (p.Glu95fs)
|
rs2140581167
|
|
NM_005585.5(SMAD6):c.294del (p.Gly99fs)
|
rs2140581198
|
|
NM_005585.5(SMAD6):c.2T>C (p.Met1Thr)
|
rs1409145798
|
|
NM_005585.5(SMAD6):c.325del (p.Glu109fs)
|
rs2140581279
|
|
NM_005585.5(SMAD6):c.352G>T (p.Glu118Ter)
|
rs1324979905
|
|
NM_005585.5(SMAD6):c.389C>A (p.Ser130Ter)
|
rs1160042861
|
|
NM_005585.5(SMAD6):c.3dup (p.Phe2fs)
|
rs2140580300
|
|
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter)
|
rs1246889300
|
|
NM_005585.5(SMAD6):c.439_457dup (p.Ala153fs)
|
rs2140581633
|
|
NM_005585.5(SMAD6):c.508C>T (p.Gln170Ter)
|
rs1235097131
|
|
NM_005585.5(SMAD6):c.511G>A (p.Glu171Lys)
|
rs1893037722
|
|
NM_005585.5(SMAD6):c.589del (p.Ser197fs)
|
rs1595757203
|
|
NM_005585.5(SMAD6):c.67del (p.Glu23fs)
|
rs1893018000
|
|
NM_005585.5(SMAD6):c.691C>T (p.Arg231Cys)
|
rs1395007983
|
|
NM_005585.5(SMAD6):c.859G>T (p.Glu287Ter)
|
rs570279865
|
|
NM_005585.5(SMAD6):c.872del (p.Leu291fs)
|
rs2140596499
|
|
NM_005585.5(SMAD6):c.943G>T (p.Glu315Ter)
|
rs1595766210
|
|
NM_005585.5(SMAD6):c.957_958insGCAA (p.Ser320fs)
|
rs2140680984
|
|
NM_014270.5(SLC7A9):c.1201A>T (p.Lys401Ter)
|
rs760264924
|
|
NM_014270.5(SLC7A9):c.151T>C (p.Ser51Pro)
|
rs1599688589
|
|
NM_014425.5(INVS):c.2887C>T (p.Gln963Ter)
|
rs1425211517
|
|
NM_014795.4(ZEB2):c.2717del (p.Pro906fs)
|
rs2149876411
|
|
NM_015386.3(COG4):c.1255G>T (p.Glu419Ter)
|
rs2151749755
|
|
NM_015426.5(POC1A):c.593_605del (p.Ser198fs)
|
rs1698348226
|
|
NM_015426.5(POC1A):c.850dup (p.Glu284fs)
|
rs770990008
|
|
NM_015909.4(NBAS):c.4288C>T (p.Gln1430Ter)
|
rs2148233321
|
|
NM_020989.4(CRYGC):c.394del (p.Val132fs)
|
rs2105857937
|
|
NM_024408.4(NOTCH2):c.6125T>C (p.Met2042Thr)
|
rs1649084282
|
|
NM_139058.3(ARX):c.947del (p.Gly316fs)
|
rs2147323625
|
|