NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000137.4(FAH):c.554-1G>T
|
rs80338895
|
0.00010
|
NM_000137.4(FAH):c.786G>A (p.Trp262Ter)
|
rs80338899
|
0.00009
|
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter)
|
rs121965075
|
0.00008
|
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.880A>C (p.Thr294Pro)
|
rs370634385
|
0.00003
|
NM_000137.4(FAH):c.1090G>T (p.Glu364Ter)
|
rs121965076
|
0.00002
|
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser)
|
rs1297118863
|
0.00002
|
NM_000137.4(FAH):c.398A>T (p.His133Leu)
|
rs775152764
|
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.707-1G>A
|
rs149052294
|
0.00002
|
NM_000137.4(FAH):c.709C>T (p.Arg237Ter)
|
rs769550316
|
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.438del (p.Asn146fs)
|
rs779642226
|
0.00001
|
NM_000137.4(FAH):c.548_553+20del
|
rs768180953
|
0.00001
|
NM_000137.4(FAH):c.692T>C (p.Met231Thr)
|
rs772824887
|
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
|
NM_000137.4(FAH):c.982C>T (p.Gln328Ter)
|
rs765134063
|
0.00001
|
NM_000137.4(FAH):c.1001_1002del (p.Ser334fs)
|
|
|
NM_000137.4(FAH):c.1028G>A (p.Gly343Glu)
|
|
|
NM_000137.4(FAH):c.1030del (p.Asp344fs)
|
rs747546798
|
|
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.1180+1G>A
|
rs980415517
|
|
NM_000137.4(FAH):c.1194_1195dup (p.Asp399fs)
|
|
|
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
|
|
|
NM_000137.4(FAH):c.122T>C (p.Leu41Pro)
|
rs2041114940
|
|
NM_000137.4(FAH):c.192+1G>T
|
rs786204683
|
|
NM_000137.4(FAH):c.193-2A>G
|
rs1555440522
|
|
NM_000137.4(FAH):c.205del (p.Ser69fs)
|
|
|
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.424A>G (p.Arg142Gly)
|
rs1420414848
|
|
NM_000137.4(FAH):c.455G>A (p.Trp152Ter)
|
rs1057516679
|
|
NM_000137.4(FAH):c.456G>A (p.Trp152Ter)
|
rs370686447
|
|
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.553+2_553+3del
|
rs1555441272
|
|
NM_000137.4(FAH):c.553+5G>A
|
|
|
NM_000137.4(FAH):c.572_577delinsTCCAA (p.Gly191fs)
|
|
|
NM_000137.4(FAH):c.606+1G>T
|
|
|
NM_000137.4(FAH):c.607-1G>A
|
rs771712041
|
|
NM_000137.4(FAH):c.615dup (p.Val206fs)
|
rs1057517084
|
|
NM_000137.4(FAH):c.616del (p.Phe205_Val206insTer)
|
|
|
NM_000137.4(FAH):c.698A>T (p.Asp233Val)
|
rs80338897
|
|
NM_000137.4(FAH):c.706+2T>G
|
rs1555441597
|
|
NM_000137.4(FAH):c.718C>T (p.Gln240Ter)
|
|
|
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.785G>A (p.Trp262Ter)
|
|
|
NM_000137.4(FAH):c.806_807dup (p.Met270fs)
|
|
|
NM_000137.4(FAH):c.82-1G>A
|
rs1247460110
|
|
NM_000137.4(FAH):c.838-2A>G
|
|
|
NM_000137.4(FAH):c.879C>A (p.Tyr293Ter)
|
|
|
NM_000137.4(FAH):c.914-2A>T
|
|
|
NM_000137.4(FAH):c.961-2A>C
|
rs1555442289
|
|
NM_000137.4(FAH):c.961-2A>G
|
|
|
NM_000137.4(FAH):c.974C>T (p.Thr325Met)
|
rs770713168
|
|