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.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
|
NM_000137.4(FAH):c.1001_1002del (p.Ser334fs)
|
|
|
NM_000137.4(FAH):c.1028G>A (p.Gly343Glu)
|
|
|
NM_000137.4(FAH):c.1090G>C (p.Glu364Gln)
|
|
|
NM_000137.4(FAH):c.1097_1099del (p.Ser366del)
|
|
|
NM_000137.4(FAH):c.115dup (p.Gln39fs)
|
|
|
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.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.315-1G>A
|
|
|
NM_000137.4(FAH):c.497T>G (p.Val166Gly)
|
rs778387055
|
|
NM_000137.4(FAH):c.509G>T (p.Gly170Val)
|
|
|
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.615dup (p.Val206fs)
|
rs1057517084
|
|
NM_000137.4(FAH):c.616del (p.Phe205_Val206insTer)
|
|
|
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.745C>A (p.Pro249Thr)
|
|
|
NM_000137.4(FAH):c.806_807dup (p.Met270fs)
|
|
|
NM_000137.4(FAH):c.838-2A>G
|
|
|
NM_000137.4(FAH):c.879C>A (p.Tyr293Ter)
|
|
|
NM_000137.4(FAH):c.961-2A>C
|
rs1555442289
|
|
NM_000137.4(FAH):c.961-2A>G
|
|
|