Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.132327411T>A | CA375327036 | SETX | c.4187A>T (p.Tyr1396Phe) n.4371A>T | |
9 | g.132327411T>C | CA375327038 | SETX | c.4187A>G (p.Tyr1396Cys) n.4371A>G | ClinVar dbSNP gnomAD v4 |
9 | g.132327411T>G | CA375327040 | SETX | c.4187A>C (p.Tyr1396Ser) n.4371A>C | |
9 | g.132327411T= | CA1882147334 | SETX | c.4187A= (p.Tyr1396=) n.4371A= | |
9 | g.132327412A= | CA1882147335 | SETX | c.4186T= (p.Tyr1396=) n.4370T= | |
9 | g.132327412A>C | CA375327041 | SETX | c.4186T>G (p.Tyr1396Asp) n.4370T>G | dbSNP gnomAD v4 |
9 | g.132327412A>G | CA375327043 | SETX | c.4186T>C (p.Tyr1396His) n.4370T>C | |
9 | g.132327412A>T | CA375327045 | SETX | c.4186T>A (p.Tyr1396Asn) n.4370T>A | gnomAD v4 |
9 | g.132327413A>C | CA375327046 | SETX | c.4185T>G (p.Asp1395Glu) n.4369T>G | |
9 | g.132327413A>G | CA467806895 | SETX | c.4185T>C (p.Asp1395=) n.4369T>C | |
9 | g.132327413A>T | CA375327047 | SETX | c.4185T>A (p.Asp1395Glu) n.4369T>A | |
9 | g.132327414T>A | CA200807279 | SETX | c.4184A>T (p.Asp1395Val) n.4368A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327414T>C | CA5297254 | SETX | c.4184A>G (p.Asp1395Gly) n.4368A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132327414T>G | CA375327051 | SETX | c.4184A>C (p.Asp1395Ala) n.4368A>C | |
9 | g.132327414T= | CA1882147336 | SETX | c.4184A= (p.Asp1395=) n.4368A= | |
9 | g.132327415C>A | CA375327055 | SETX | c.4183G>T (p.Asp1395Tyr) n.4367G>T | |
9 | g.132327415C>G | CA375327057 | SETX | c.4183G>C (p.Asp1395His) n.4367G>C | |
9 | g.132327415C>T | CA375327053 | SETX | c.4183G>A (p.Asp1395Asn) n.4367G>A | gnomAD v4 |
9 | g.132327416T>A | CA467806896 | SETX | c.4182A>T (p.Ser1394=) n.4366A>T | |
9 | g.132327416T>C | CA5297255 | SETX | c.4182A>G (p.Ser1394=) n.4366A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132327416T>G | CA467806897 | SETX | c.4182A>C (p.Ser1394=) n.4366A>C | |
9 | g.132327416T= | CA1882147337 | SETX | c.4182A= (p.Ser1394=) n.4366A= | |
9 | g.132327417G>A | CA375327059 | SETX | c.4181C>T (p.Ser1394Leu) n.4365C>T | ClinVar COSMIC COSMIC |
9 | g.132327417G>C | CA375327060 | SETX | c.4181C>G (p.Ser1394Ter) n.4365C>G | gnomAD v4 |
9 | g.132327417G>T | CA375327062 | SETX | c.4181C>A (p.Ser1394Ter) n.4365C>A | |
9 | g.132327418A= | CA1882147338 | SETX | c.4180T= (p.Ser1394=) n.4364T= | |
9 | g.132327418A>C | CA375327065 | SETX | c.4180T>G (p.Ser1394Ala) n.4364T>G | |
9 | g.132327418A>G | CA5297256 | SETX | c.4180T>C (p.Ser1394Pro) n.4364T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327418A>T | CA375327063 | SETX | c.4180T>A (p.Ser1394Thr) n.4364T>A | |
9 | g.132327419C>A | CA375327067 | SETX | c.4179G>T (p.Arg1393Ser) n.4363G>T | |
9 | g.132327419C= | CA1882147339 | SETX | c.4179G= (p.Arg1393=) n.4363G= | |
9 | g.132327419C>G | CA375327069 | SETX | c.4179G>C (p.Arg1393Ser) n.4363G>C | |
9 | g.132327419C>T | CA467806898 | SETX | c.4179G>A (p.Arg1393=) n.4363G>A | dbSNP gnomAD v4 |
9 | g.132327420C>A | CA375327071 | SETX | c.4178G>T (p.Arg1393Met) n.4362G>T | |
9 | g.132327420C>G | CA375327074 | SETX | c.4178G>C (p.Arg1393Thr) n.4362G>C | |
9 | g.132327420C>T | CA375327075 | SETX | c.4178G>A (p.Arg1393Lys) n.4362G>A | gnomAD v4 |
9 | g.132327421T>A | CA375327077 | SETX | c.4177A>T (p.Arg1393Trp) n.4361A>T | |
9 | g.132327421T>C | CA5297257 | SETX | c.4177A>G (p.Arg1393Gly) n.4361A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327421T>G | CA467806899 | SETX | c.4177A>C (p.Arg1393=) n.4361A>C | |
9 | g.132327421T= | CA1882147340 | SETX | c.4177A= (p.Arg1393=) n.4361A= | |
9 | g.132327422A>C | CA375327080 | SETX | c.4176T>G (p.Asp1392Glu) n.4360T>G | |
9 | g.132327422A>G | CA467806900 | SETX | c.4176T>C (p.Asp1392=) n.4360T>C | |
9 | g.132327422A>T | CA375327081 | SETX | c.4176T>A (p.Asp1392Glu) n.4360T>A | |
9 | g.132327423T>A | CA375327083 | SETX | c.4175A>T (p.Asp1392Val) n.4359A>T | |
9 | g.132327423T>C | CA375327087 | SETX | c.4175A>G (p.Asp1392Gly) n.4359A>G | dbSNP |
9 | g.132327423T>G | CA375327085 | SETX | c.4175A>C (p.Asp1392Ala) n.4359A>C | |
9 | g.132327423T= | CA1882147341 | SETX | c.4175A= (p.Asp1392=) n.4359A= | |
9 | g.132327424_132327434dup | CA2692256383 | SETX | c.4165_4175dup (p.Arg1393GlnfsTer25) n.4349_4359dup | gnomAD v4 |
9 | g.132327424C>A | CA375327088 | SETX | c.4174G>T (p.Asp1392Tyr) n.4358G>T | |
9 | g.132327424C= | CA1882147342 | SETX | c.4174G= (p.Asp1392=) n.4358G= |