NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)
|
rs80338900
|
0.00006
|
NM_000137.4(FAH):c.1A>G (p.Met1Val)
|
rs1057517972
|
0.00003
|
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.81+2T>A
|
rs772895065
|
0.00001
|
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter)
|
rs886044640
|
0.00001
|
NM_000137.4(FAH):c.1027G>A (p.Gly343Arg)
|
rs970505762
|
|
NM_000137.4(FAH):c.1063-2A>G
|
rs1555442385
|
|
NM_000137.4(FAH):c.1181-1G>A
|
rs1057516333
|
|
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.193-2A>G
|
rs1555440522
|
|
NM_000137.4(FAH):c.2T>A (p.Met1Lys)
|
rs1057516934
|
|
NM_000137.4(FAH):c.314+1G>A
|
rs1057516408
|
|
NM_000137.4(FAH):c.401C>A (p.Ala134Asp)
|
rs121965074
|
|
NM_000137.4(FAH):c.455G>A (p.Trp152Ter)
|
rs1057516679
|
|
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.492del (p.Ser165fs)
|
rs1057517113
|
|
NM_000137.4(FAH):c.497T>G (p.Val166Gly)
|
rs778387055
|
|
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)
|
rs781496816
|
|
NM_000137.4(FAH):c.553+2_553+3del
|
rs1555441272
|
|
NM_000137.4(FAH):c.607-1G>A
|
rs771712041
|
|
NM_000137.4(FAH):c.615del (p.Phe205fs)
|
rs1057517084
|
|
NM_000137.4(FAH):c.706+2T>G
|
rs1555441597
|
|
NM_000137.4(FAH):c.744del (p.Pro249fs)
|
rs750741137
|
|
NM_000137.4(FAH):c.780_781del (p.Pro261fs)
|
rs1057517436
|
|
NM_000137.4(FAH):c.81+2T>C
|
rs772895065
|
|
NM_000137.4(FAH):c.82-1G>A
|
rs1247460110
|
|
NM_000137.4(FAH):c.854_855insTGGCCCCTGCC (p.Tyr286fs)
|
rs1555441852
|
|
NM_000137.4(FAH):c.885dup (p.Asp296Ter)
|
rs1555441861
|
|
NM_000137.4(FAH):c.960+1G>A
|
rs1057517201
|
|
NM_000137.4(FAH):c.961-2A>C
|
rs1555442289
|
|