Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.132327629dup | CA2786136792 | SETX | c.3974dup (p.Thr1326AspfsTer2) n.4158dup | |
9 | g.132327626T>A | CA375327776 | SETX | c.3972A>T (p.Lys1324Asn) n.4156A>T | |
9 | g.132327626T>C | CA5297293 | SETX | c.3972A>G (p.Lys1324=) n.4156A>G | dbSNP ExAC gnomAD v2 |
9 | g.132327626T>G | CA375327779 | SETX | c.3972A>C (p.Lys1324Asn) n.4156A>C | |
9 | g.132327626T= | CA1882147431 | SETX | c.3972A= (p.Lys1324=) n.4156A= | |
9 | g.132327627T>A | CA375327781 | SETX | c.3971A>T (p.Lys1324Ile) n.4155A>T | |
9 | g.132327627T>C | CA375327783 | SETX | c.3971A>G (p.Lys1324Arg) n.4155A>G | |
9 | g.132327627T>G | CA375327784 | SETX | c.3971A>C (p.Lys1324Thr) n.4155A>C | |
9 | g.132327628T>A | CA375327790 | SETX | c.3970A>T (p.Lys1324Ter) n.4154A>T | |
9 | g.132327628T>C | CA375327789 | SETX | c.3970A>G (p.Lys1324Glu) n.4154A>G | dbSNP gnomAD v4 |
9 | g.132327628T>G | CA375327787 | SETX | c.3970A>C (p.Lys1324Gln) n.4154A>C | ClinVar |
9 | g.132327628T= | CA1882147432 | SETX | c.3970A= (p.Lys1324=) n.4154A= | |
9 | g.132327629T>A | CA467807478 | SETX | c.3969A>T (p.Arg1323=) n.4153A>T | |
9 | g.132327629T>C | CA467807476 | SETX | c.3969A>G (p.Arg1323=) n.4153A>G | gnomAD v4 |
9 | g.132327629T>G | CA467807474 | SETX | c.3969A>C (p.Arg1323=) n.4153A>C | gnomAD v4 |
9 | g.132327630C>A | CA375327791 | SETX | c.3968G>T (p.Arg1323Leu) n.4152G>T | gnomAD v4 |
9 | g.132327630C= | CA1882147433 | SETX | c.3968G= (p.Arg1323=) n.4152G= | |
9 | g.132327630C>G | CA375327792 | SETX | c.3968G>C (p.Arg1323Pro) n.4152G>C | |
9 | g.132327630C>T | CA233096 | SETX | c.3968G>A (p.Arg1323Gln) n.4152G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327631G>A | CA200807604 | SETX | c.3967C>T (p.Arg1323Ter) n.4151C>T | dbSNP gnomAD v4 |
9 | g.132327631G>C | CA375327793 | SETX | c.3967C>G (p.Arg1323Gly) n.4151C>G | |
9 | g.132327631G= | CA1882147434 | SETX | c.3967C= (p.Arg1323=) n.4151C= | |
9 | g.132327631G>T | CA467807487 | SETX | c.3967C>A (p.Arg1323=) n.4151C>A | |
9 | g.132327632G>A | CA5297294 | SETX | c.3966C>T (p.Thr1322=) n.4150C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327632G>C | CA467807492 | SETX | c.3966C>G (p.Thr1322=) n.4150C>G | |
9 | g.132327632G= | CA1882147435 | SETX | c.3966C= (p.Thr1322=) n.4150C= | |
9 | g.132327632G>T | CA5297295 | SETX | c.3966C>A (p.Thr1322=) n.4150C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327633G>A | CA375327794 | SETX | c.3965C>T (p.Thr1322Ile) n.4149C>T | |
9 | g.132327633G>C | CA375327795 | SETX | c.3965C>G (p.Thr1322Ser) n.4149C>G | gnomAD v4 |
9 | g.132327633G= | CA1882147436 | SETX | c.3965C= (p.Thr1322=) n.4149C= | |
9 | g.132327633G>T | CA5297296 | SETX | c.3965C>A (p.Thr1322Asn) n.4149C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327634T>A | CA375327796 | SETX | c.3964A>T (p.Thr1322Ser) n.4148A>T | |
9 | g.132327634T>C | CA375327797 | SETX | c.3964A>G (p.Thr1322Ala) n.4148A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132327634T>G | CA375327798 | SETX | c.3964A>C (p.Thr1322Pro) n.4148A>C | |
9 | g.132327634T= | CA1882147437 | SETX | c.3964A= (p.Thr1322=) n.4148A= | |
9 | g.132327635A>C | CA375327799 | SETX | c.3963T>G (p.Asp1321Glu) n.4147T>G | |
9 | g.132327635A>G | CA467807502 | SETX | c.3963T>C (p.Asp1321=) n.4147T>C | |
9 | g.132327635A>T | CA375327800 | SETX | c.3963T>A (p.Asp1321Glu) n.4147T>A | |
9 | g.132327636T>A | CA375327801 | SETX | c.3962A>T (p.Asp1321Val) n.4146A>T | |
9 | g.132327636T>C | CA375327802 | SETX | c.3962A>G (p.Asp1321Gly) n.4146A>G | gnomAD v4 |
9 | g.132327636T>G | CA375327805 | SETX | c.3962A>C (p.Asp1321Ala) n.4146A>C | |
9 | g.132327637C>A | CA375327809 | SETX | c.3961G>T (p.Asp1321Tyr) n.4145G>T | |
9 | g.132327637C>G | CA375327811 | SETX | c.3961G>C (p.Asp1321His) n.4145G>C | |
9 | g.132327637C>T | CA375327812 | SETX | c.3961G>A (p.Asp1321Asn) n.4145G>A | COSMIC COSMIC |
9 | g.132327638A= | CA1882147438 | SETX | c.3960T= (p.Val1320=) n.4144T= | |
9 | g.132327638A>C | CA467807514 | SETX | c.3960T>G (p.Val1320=) n.4144T>G | |
9 | g.132327638A>G | CA467807516 | SETX | c.3960T>C (p.Val1320=) n.4144T>C | |
9 | g.132327638A>T | CA467807512 | SETX | c.3960T>A (p.Val1320=) n.4144T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327639A>C | CA375327815 | SETX | c.3959T>G (p.Val1320Gly) n.4143T>G | gnomAD v4 |
9 | g.132327639A>G | CA375327817 | SETX | c.3959T>C (p.Val1320Ala) n.4143T>C |