NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000062.3(SERPING1):c.1198C>T (p.Arg400Cys)
|
rs201363394
|
0.00001
|
NM_000301.5(PLG):c.988A>G (p.Lys330Glu)
|
rs889957249
|
0.00001
|
NM_001009606.4(HS3ST6):c.430A>T (p.Thr144Ser)
|
rs746467957
|
0.00001
|
NM_001146.5(ANGPT1):c.355G>T (p.Ala119Ser)
|
rs764987358
|
0.00001
|
NM_013451.4(MYOF):c.651G>T (p.Arg217Ser)
|
rs1256778304
|
0.00001
|
NC_000011.10:g.57597582C>T
|
rs2135304804
|
|
NG_009625.1:g.(13995_19163)_(19384_21774)del
|
|
|
NM_000062.3(SERPING1):c.-22-155G>T
|
rs1945307391
|
|
NM_000062.3(SERPING1):c.1012C>T (p.Gln338Ter)
|
rs1565171906
|
|
NM_000062.3(SERPING1):c.1019del (p.Thr339_Leu340insTer)
|
rs2135318396
|
|
NM_000062.3(SERPING1):c.1029+384A>G
|
rs1945416520
|
|
NM_000062.3(SERPING1):c.1036C>T (p.Gln346Ter)
|
rs1590829609
|
|
NM_000062.3(SERPING1):c.1051del (p.His351fs)
|
rs2135324476
|
|
NM_000062.3(SERPING1):c.106_107del (p.Ser36fs)
|
rs1590822296
|
|
NM_000062.3(SERPING1):c.1094dup (p.His365fs)
|
rs2135324565
|
|
NM_000062.3(SERPING1):c.1106del (p.Asp369fs)
|
rs1565173309
|
|
NM_000062.3(SERPING1):c.1180del (p.Thr394fs)
|
rs1590829763
|
|
NM_000062.3(SERPING1):c.1186del (p.Leu395_Leu396insTer)
|
rs2135324746
|
|
NM_000062.3(SERPING1):c.1196C>G (p.Pro399Arg)
|
|
|
NM_000062.3(SERPING1):c.1233_1234insTC (p.Ile412fs)
|
rs1945481508
|
|
NM_000062.3(SERPING1):c.1247T>A (p.Leu416Ter)
|
rs1565173405
|
|
NM_000062.3(SERPING1):c.1249+1G>T
|
rs112565881
|
|
NM_000062.3(SERPING1):c.1249+2T>C
|
rs2135324885
|
|
NM_000062.3(SERPING1):c.124G>T (p.Glu42Ter)
|
rs778625408
|
|
NM_000062.3(SERPING1):c.1264del (p.Ser422fs)
|
rs1554996817
|
|
NM_000062.3(SERPING1):c.1268dup (p.Tyr423Ter)
|
rs1554996819
|
|
NM_000062.3(SERPING1):c.1269T>A (p.Tyr423Ter)
|
rs750873571
|
|
NM_000062.3(SERPING1):c.1306del (p.Leu436fs)
|
|
|
NM_000062.3(SERPING1):c.1342_1349dup (p.Thr450_Glu451insAsnTer)
|
rs1590831385
|
|
NM_000062.3(SERPING1):c.1353_1354del (p.Glu451fs)
|
rs1554996833
|
|
NM_000062.3(SERPING1):c.1357_1358insTGT (p.Gly453delinsValTrp)
|
rs606231141
|
|
NM_000062.3(SERPING1):c.1361T>A (p.Val454Glu)
|
rs121907949
|
|
NM_000062.3(SERPING1):c.1372G>A (p.Ala458Thr)
|
rs121907947
|
|
NM_000062.3(SERPING1):c.1373C>T (p.Ala458Val)
|
rs1590831432
|
|
NM_000062.3(SERPING1):c.1385T>G (p.Ile462Ser)
|
rs763451792
|
|
NM_000062.3(SERPING1):c.1396C>A (p.Arg466Ser)
|
rs28940870
|
|
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys)
|
rs28940870
|
|
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His)
|
rs121907948
|
|
NM_000062.3(SERPING1):c.1417G>A (p.Val473Met)
|
rs956390201
|
|
NM_000062.3(SERPING1):c.1420C>T (p.Gln474Ter)
|
rs1565174105
|
|
NM_000062.3(SERPING1):c.1446G>A (p.Trp482Ter)
|
rs1590831545
|
|
NM_000062.3(SERPING1):c.1450C>T (p.Gln484Ter)
|
rs2135328243
|
|
NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter)
|
rs922149386
|
|
NM_000062.3(SERPING1):c.172_181del (p.Pro58fs)
|
rs2135308147
|
|
NM_000062.3(SERPING1):c.195del (p.Leu65fs)
|
rs1945329402
|
|
NM_000062.3(SERPING1):c.197dup (p.Thr67fs)
|
rs2135308182
|
|
NM_000062.3(SERPING1):c.1A>C (p.Met1Leu)
|
rs1565168898
|
|
NM_000062.3(SERPING1):c.1A>G (p.Met1Val)
|
rs1565168898
|
|
NM_000062.3(SERPING1):c.229A>T (p.Lys77Ter)
|
rs2135308228
|
|
NM_000062.3(SERPING1):c.232del (p.Lys77_Ile78insTer)
|
rs2135308232
|
|
NM_000062.3(SERPING1):c.314_317del (p.Pro105fs)
|
rs1945331796
|
|
NM_000062.3(SERPING1):c.330_331insC (p.Thr111fs)
|
rs2135308522
|
|
NM_000062.3(SERPING1):c.342_345del (p.Thr115fs)
|
rs1565169621
|
|
NM_000062.3(SERPING1):c.346C>T (p.Gln116Ter)
|
rs2135308550
|
|
NM_000062.3(SERPING1):c.347del (p.Gln116fs)
|
rs1590822588
|
|
NM_000062.3(SERPING1):c.377del (p.Pro126fs)
|
|
|
NM_000062.3(SERPING1):c.508del (p.Ser170fs)
|
rs1590822739
|
|
NM_000062.3(SERPING1):c.550+1G>T
|
rs2135308859
|
|
NM_000062.3(SERPING1):c.550+745_685+308del
|
|
|
NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg)
|
rs281875170
|
|
NM_000062.3(SERPING1):c.55A>T (p.Arg19Ter)
|
rs1565169419
|
|
NM_000062.3(SERPING1):c.576_583dup (p.Ser195fs)
|
rs1945353409
|
|
NM_000062.3(SERPING1):c.586_589del (p.Ile196fs)
|
rs1565170287
|
|
NM_000062.3(SERPING1):c.597C>G (p.Tyr199Ter)
|
rs121907951
|
|
NM_000062.3(SERPING1):c.600dup (p.Lys201fs)
|
rs1590823884
|
|
NM_000062.3(SERPING1):c.615dup (p.Val206fs)
|
rs1554995260
|
|
NM_000062.3(SERPING1):c.623dup (p.Ala209fs)
|
rs2135311324
|
|
NM_000062.3(SERPING1):c.635dup (p.Phe213fs)
|
rs2135311344
|
|
NM_000062.3(SERPING1):c.646delinsTCAGTGTCGTG (p.Lys216delinsSerValSerTer)
|
rs1554995271
|
|
NM_000062.3(SERPING1):c.673_675del (p.Phe225del)
|
rs2135311395
|
|
NM_000062.3(SERPING1):c.674_675delinsAA (p.Phe225Ter)
|
rs1565170364
|
|
NM_000062.3(SERPING1):c.686-1G>A
|
rs1945404833
|
|
NM_000062.3(SERPING1):c.733_736dup (p.Ser246fs)
|
rs2135317617
|
|
NM_000062.3(SERPING1):c.748_749del (p.Val250fs)
|
rs2135317631
|
|
NM_000062.3(SERPING1):c.74del (p.Asn25fs)
|
rs2135307959
|
|
NM_000062.3(SERPING1):c.779dup (p.Leu261fs)
|
rs2135317696
|
|
NM_000062.3(SERPING1):c.785dup (p.Asn263fs)
|
rs2135317718
|
|
NM_000062.3(SERPING1):c.902del (p.Thr301fs)
|
rs1945410259
|
|
NM_000062.3(SERPING1):c.908T>C (p.Phe303Ser)
|
rs1590826703
|
|
NM_000062.3(SERPING1):c.941_942insTC (p.Phe315fs)
|
rs2135318252
|
|
NM_000062.3(SERPING1):c.951dup (p.Ser318fs)
|
rs2135318269
|
|
NM_000062.3(SERPING1):c.953C>G (p.Ser318Ter)
|
rs1554995860
|
|
NM_000062.3(SERPING1):c.983_984delinsC (p.Lys328fs)
|
rs2135318339
|
|
NM_000062.3(SERPING1):c.985A>T (p.Lys329Ter)
|
rs1945411910
|
|
NM_000301.5(PLG):c.2183T>A (p.Val728Glu)
|
rs1582955358
|
|
NM_000505.4(F12):c.894_911dup (p.Gln300_Thr305dup)
|
rs774034606
|
|
NM_000505.4(F12):c.971_1018+24del
|
rs1554097246
|
|
NM_000505.4(F12):c.983C>A (p.Thr328Lys)
|
rs118204456
|
|
NM_000505.4(F12):c.983C>G (p.Thr328Arg)
|
rs118204456
|
|
NM_001102416.3(KNG1):c.1136T>A (p.Met379Lys)
|
rs765933558
|
|
NM_001102416.3(KNG1):c.1720C>G (p.Pro574Ala)
|
rs1369253342
|
|