NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)
|
rs80338900
|
0.00006
|
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp)
|
rs970505762
|
0.00006
|
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)
|
rs80338898
|
0.00006
|
NM_000137.4(FAH):c.1A>G (p.Met1Val)
|
rs1057517972
|
0.00003
|
NM_000137.4(FAH):c.880A>C (p.Thr294Pro)
|
rs370634385
|
0.00003
|
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser)
|
rs1297118863
|
0.00002
|
NM_000137.4(FAH):c.620G>A (p.Gly207Asp)
|
rs754196530
|
0.00002
|
NM_000137.4(FAH):c.696C>T (p.Asn232=)
|
rs533540262
|
0.00002
|
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)
|
rs779040832
|
0.00001
|
NM_000137.4(FAH):c.1190del (p.Gln397fs)
|
rs786204551
|
0.00001
|
NM_000137.4(FAH):c.192G>T (p.Gln64His)
|
rs80338894
|
0.00001
|
NM_000137.4(FAH):c.315-3C>G
|
rs1171235203
|
0.00001
|
NM_000137.4(FAH):c.438del (p.Asn146fs)
|
rs779642226
|
0.00001
|
NM_000137.4(FAH):c.742G>A (p.Gly248Arg)
|
rs774861939
|
0.00001
|
NM_000137.4(FAH):c.81+2T>A
|
rs772895065
|
0.00001
|
NM_000137.4(FAH):c.836A>G (p.Gln279Arg)
|
rs121965078
|
0.00001
|
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter)
|
rs886044640
|
0.00001
|
NC_000015.9:g.(?_80450392)_(80450522_?)del
|
|
|
NM_000137.4(FAH):c.1001_1002del (p.Ser334fs)
|
|
|
NM_000137.4(FAH):c.1025dup (p.Asp344fs)
|
rs2041318487
|
|
NM_000137.4(FAH):c.1027G>A (p.Gly343Arg)
|
rs970505762
|
|
NM_000137.4(FAH):c.1028G>A (p.Gly343Glu)
|
|
|
NM_000137.4(FAH):c.1063-2A>G
|
rs1555442385
|
|
NM_000137.4(FAH):c.1090G>C (p.Glu364Gln)
|
|
|
NM_000137.4(FAH):c.1097_1099del (p.Ser366del)
|
|
|
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly)
|
rs121965077
|
|
NM_000137.4(FAH):c.115dup (p.Gln39fs)
|
|
|
NM_000137.4(FAH):c.1181-1G>A
|
rs1057516333
|
|
NM_000137.4(FAH):c.1194_1195dup (p.Asp399fs)
|
|
|
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
|
|
|
NM_000137.4(FAH):c.1210G>C (p.Gly404Arg)
|
rs1297118863
|
|
NM_000137.4(FAH):c.122T>C (p.Leu41Pro)
|
rs2041114940
|
|
NM_000137.4(FAH):c.1258T>C (p.Ter420Arg)
|
rs1057516631
|
|
NM_000137.4(FAH):c.1258T>G (p.Ter420Gly)
|
rs1057516631
|
|
NM_000137.4(FAH):c.14del (p.Pro5fs)
|
rs1057517341
|
|
NM_000137.4(FAH):c.192+1G>T
|
rs786204683
|
|
NM_000137.4(FAH):c.193-2A>G
|
rs1555440522
|
|
NM_000137.4(FAH):c.1A>C (p.Met1Leu)
|
rs1057517972
|
|
NM_000137.4(FAH):c.205del (p.Ser69fs)
|
|
|
NM_000137.4(FAH):c.244A>T (p.Arg82Ter)
|
|
|
NM_000137.4(FAH):c.2T>A (p.Met1Lys)
|
rs1057516934
|
|
NM_000137.4(FAH):c.301G>T (p.Glu101Ter)
|
|
|
NM_000137.4(FAH):c.314+1G>A
|
rs1057516408
|
|
NM_000137.4(FAH):c.314+1G>T
|
|
|
NM_000137.4(FAH):c.315-1G>A
|
|
|
NM_000137.4(FAH):c.315-2A>G
|
rs1555440603
|
|
NM_000137.4(FAH):c.328C>T (p.Gln110Ter)
|
rs754444882
|
|
NM_000137.4(FAH):c.34T>C (p.Phe12Leu)
|
|
|
NM_000137.4(FAH):c.364+2T>C
|
rs1595890740
|
|
NM_000137.4(FAH):c.364+2T>G
|
rs1595890740
|
|
NM_000137.4(FAH):c.365-2A>G
|
|
|
NM_000137.4(FAH):c.386C>T (p.Ser129Phe)
|
|
|
NM_000137.4(FAH):c.394C>T (p.Gln132Ter)
|
rs2041155591
|
|
NM_000137.4(FAH):c.401C>A (p.Ala134Asp)
|
rs121965074
|
|
NM_000137.4(FAH):c.424A>G (p.Arg142Gly)
|
rs1420414848
|
|
NM_000137.4(FAH):c.455+1G>A
|
|
|
NM_000137.4(FAH):c.455G>A (p.Trp152Ter)
|
rs1057516679
|
|
NM_000137.4(FAH):c.456-1G>A
|
|
|
NM_000137.4(FAH):c.456-2A>G
|
rs1555441251
|
|
NM_000137.4(FAH):c.456G>A (p.Trp152Ter)
|
rs370686447
|
|
NM_000137.4(FAH):c.461_491del (p.His154fs)
|
rs1057516684
|
|
NM_000137.4(FAH):c.47A>T (p.Asn16Ile)
|
rs121965073
|
|
NM_000137.4(FAH):c.492del (p.Ser165fs)
|
rs1057517113
|
|
NM_000137.4(FAH):c.497T>G (p.Val166Gly)
|
rs778387055
|
|
NM_000137.4(FAH):c.509G>T (p.Gly170Val)
|
|
|
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)
|
rs781496816
|
|
NM_000137.4(FAH):c.532G>T (p.Gly178Ter)
|
|
|
NM_000137.4(FAH):c.53C>T (p.Pro18Leu)
|
rs2041065794
|
|
NM_000137.4(FAH):c.553+1G>A
|
|
|
NM_000137.4(FAH):c.553+2_553+3del
|
rs1555441272
|
|
NM_000137.4(FAH):c.553+2del
|
|
|
NM_000137.4(FAH):c.553+5G>A
|
|
|
NM_000137.4(FAH):c.566_606+62del
|
|
|
NM_000137.4(FAH):c.572_577delinsTCCAA (p.Gly191fs)
|
|
|
NM_000137.4(FAH):c.580A>T (p.Lys194Ter)
|
|
|
NM_000137.4(FAH):c.606+1G>A
|
rs773450608
|
|
NM_000137.4(FAH):c.606+1G>T
|
|
|
NM_000137.4(FAH):c.607-1G>A
|
rs771712041
|
|
NM_000137.4(FAH):c.615del (p.Phe205fs)
|
rs1057517084
|
|
NM_000137.4(FAH):c.615dup (p.Val206fs)
|
rs1057517084
|
|
NM_000137.4(FAH):c.616del (p.Phe205_Val206insTer)
|
|
|
NM_000137.4(FAH):c.706+1G>A
|
|
|
NM_000137.4(FAH):c.706+2T>G
|
rs1555441597
|
|
NM_000137.4(FAH):c.726G>A (p.Trp242Ter)
|
rs1567118987
|
|
NM_000137.4(FAH):c.72_81dup (p.Pro28fs)
|
|
|
NM_000137.4(FAH):c.744del (p.Pro249fs)
|
rs750741137
|
|
NM_000137.4(FAH):c.745C>A (p.Pro249Thr)
|
|
|
NM_000137.4(FAH):c.745C>T (p.Pro249Ser)
|
rs1595894742
|
|
NM_000137.4(FAH):c.780_781del (p.Pro261fs)
|
rs1057517436
|
|
NM_000137.4(FAH):c.806_807dup (p.Met270fs)
|
|
|
NM_000137.4(FAH):c.81+2T>C
|
rs772895065
|
|
NM_000137.4(FAH):c.81+2T>G
|
rs772895065
|
|
NM_000137.4(FAH):c.82-1G>A
|
rs1247460110
|
|
NM_000137.4(FAH):c.82-1G>C
|
|
|
NM_000137.4(FAH):c.835C>T (p.Gln279Ter)
|
rs2041255686
|
|
NM_000137.4(FAH):c.838-2A>G
|
|
|
NM_000137.4(FAH):c.854_855insTGGCCCCTGCC (p.Tyr286fs)
|
rs1555441852
|
|
NM_000137.4(FAH):c.879C>A (p.Tyr293Ter)
|
|
|
NM_000137.4(FAH):c.885dup (p.Asp296Ter)
|
rs1555441861
|
|
NM_000137.4(FAH):c.910A>T (p.Lys304Ter)
|
rs2041271608
|
|
NM_000137.4(FAH):c.913+2T>C
|
|
|
NM_000137.4(FAH):c.914-1G>A
|
rs2142105483
|
|
NM_000137.4(FAH):c.919G>T (p.Gly307Ter)
|
rs2041294652
|
|
NM_000137.4(FAH):c.960+1G>A
|
rs1057517201
|
|
NM_000137.4(FAH):c.960+2T>C
|
rs2142105542
|
|
NM_000137.4(FAH):c.961-2A>C
|
rs1555442289
|
|
NM_000137.4(FAH):c.961-2A>G
|
|
|
NM_000137.4(FAH):c.971G>A (p.Trp324Ter)
|
rs2041316956
|
|
NM_000137.4(FAH):c.974C>T (p.Thr325Met)
|
rs770713168
|
|