NM_000156.6(GAMT):c.327G>A (p.Lys109=)
|
rs80338735
|
0.00017
|
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter)
|
rs1057524499
|
0.00003
|
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)
|
rs370421531
|
0.00003
|
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)
|
rs774144200
|
0.00002
|
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)
|
rs121909272
|
0.00002
|
NM_000156.6(GAMT):c.224C>T (p.Ala75Val)
|
rs1441030187
|
0.00001
|
NM_000156.6(GAMT):c.289C>T (p.Gln97Ter)
|
rs1215576338
|
0.00001
|
NM_000156.6(GAMT):c.328-1G>A
|
rs756772965
|
0.00001
|
NM_000156.6(GAMT):c.407C>T (p.Thr136Met)
|
rs374724533
|
0.00001
|
NC_000019.10:g.1399939del
|
|
|
NC_000019.9:g.(?_1398895)_(1401475_?)del
|
|
|
NM_000156.6(GAMT):c.182-2A>G
|
rs2082624299
|
|
NM_000156.6(GAMT):c.220G>C (p.Ala74Pro)
|
|
|
NM_000156.6(GAMT):c.235C>T (p.Gln79Ter)
|
|
|
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter)
|
rs761115975
|
|
NM_000156.6(GAMT):c.289del (p.Gln97fs)
|
|
|
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)
|
rs80338736
|
|
NM_000156.6(GAMT):c.301del (p.Asp101fs)
|
rs780806777
|
|
NM_000156.6(GAMT):c.305G>A (p.Trp102Ter)
|
rs2144638122
|
|
NM_000156.6(GAMT):c.306G>A (p.Trp102Ter)
|
|
|
NM_000156.6(GAMT):c.307del (p.Ala103fs)
|
rs2082622867
|
|
NM_000156.6(GAMT):c.313_314insTG (p.Arg105fs)
|
rs2144638078
|
|
NM_000156.6(GAMT):c.316C>T (p.Gln106Ter)
|
rs1369786965
|
|
NM_000156.6(GAMT):c.324_325del (p.His108fs)
|
rs2144638048
|
|
NM_000156.6(GAMT):c.328-2A>G
|
rs2082621259
|
|
NM_000156.6(GAMT):c.332_338del (p.Ile111fs)
|
|
|
NM_000156.6(GAMT):c.350G>A (p.Trp117Ter)
|
rs2144637546
|
|
NM_000156.6(GAMT):c.356dup (p.Asp119fs)
|
rs2144637533
|
|
NM_000156.6(GAMT):c.370del (p.Leu124fs)
|
|
|
NM_000156.6(GAMT):c.392-1G>A
|
rs1600158650
|
|
NM_000156.6(GAMT):c.402C>A (p.Tyr134Ter)
|
rs556829801
|
|
NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter)
|
rs556829801
|
|
NM_000156.6(GAMT):c.403G>C (p.Asp135His)
|
|
|
NM_000156.6(GAMT):c.414_415del (p.Ser140fs)
|
rs2144636856
|
|
NM_000156.6(GAMT):c.419C>A (p.Ser140Ter)
|
rs747656257
|
|
NM_000156.6(GAMT):c.432G>A (p.Trp144Ter)
|
rs1600158570
|
|
NM_000156.6(GAMT):c.432_433dup (p.His145fs)
|
rs2144636785
|
|
NM_000156.6(GAMT):c.440_441del (p.His147fs)
|
rs1487842051
|
|
NM_000156.6(GAMT):c.440_441dup (p.Gln148fs)
|
rs1487842051
|
|
NM_000156.6(GAMT):c.442dup (p.Gln148fs)
|
rs2082618262
|
|
NM_000156.6(GAMT):c.444_448del (p.Phe149fs)
|
|
|
NM_000156.6(GAMT):c.470_476del (p.Phe157fs)
|
rs2144636455
|
|
NM_000156.6(GAMT):c.475del (p.Leu159fs)
|
|
|
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp)
|
rs760101382
|
|
NM_000156.6(GAMT):c.491del (p.Gly164fs)
|
rs749390953
|
|
NM_000156.6(GAMT):c.491dup (p.Val165fs)
|
rs749390953
|
|
NM_000156.6(GAMT):c.503_517del (p.Tyr168_Thr172del)
|
|
|
NM_000156.6(GAMT):c.504C>G (p.Tyr168Ter)
|
rs2082617068
|
|
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg)
|
rs1600158346
|
|
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup)
|
rs779931959
|
|
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter)
|
rs200444143
|
|
NM_000156.6(GAMT):c.526del (p.Glu176fs)
|
rs2144636246
|
|
NM_000156.6(GAMT):c.526dup (p.Glu176fs)
|
rs2144636246
|
|
NM_000156.6(GAMT):c.534dup (p.Lys179fs)
|
rs2144636214
|
|
NM_000156.6(GAMT):c.536del (p.Lys179fs)
|
rs2144636198
|
|
NM_000156.6(GAMT):c.577C>T (p.Gln193Ter)
|
|
|
NM_000156.6(GAMT):c.608_621del (p.Arg203fs)
|
|
|
NM_000156.6(GAMT):c.609dup (p.Arg204fs)
|
rs745740974
|
|