Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.132327297T>A | CA375326613 | SETX | c.4301A>T (p.Asp1434Val) n.4485A>T | |
9 | g.132327297T>C | CA375326614 | SETX | c.4301A>G (p.Asp1434Gly) n.4485A>G | dbSNP |
9 | g.132327297T>G | CA375326616 | SETX | c.4301A>C (p.Asp1434Ala) n.4485A>C | |
9 | g.132327297T= | CA1882147280 | SETX | c.4301A= (p.Asp1434=) n.4485A= | |
9 | g.132327298C>A | CA375326617 | SETX | c.4300G>T (p.Asp1434Tyr) n.4484G>T | |
9 | g.132327298C>G | CA375326619 | SETX | c.4300G>C (p.Asp1434His) n.4484G>C | |
9 | g.132327298C>T | CA375326621 | SETX | c.4300G>A (p.Asp1434Asn) n.4484G>A | |
9 | g.132327299A= | CA1882147281 | SETX | c.4299T= (p.Thr1433=) n.4483T= | |
9 | g.132327299A>C | CA467807696 | SETX | c.4299T>G (p.Thr1433=) n.4483T>G | |
9 | g.132327299A>G | CA5297228 | SETX | c.4299T>C (p.Thr1433=) n.4483T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132327299A>T | CA467807697 | SETX | c.4299T>A (p.Thr1433=) n.4483T>A | |
9 | g.132327300G>A | CA375326624 | SETX | c.4298C>T (p.Thr1433Ile) n.4482C>T | gnomAD v4 |
9 | g.132327300G>C | CA375326625 | SETX | c.4298C>G (p.Thr1433Ser) n.4482C>G | gnomAD v4 |
9 | g.132327300G= | CA1882147282 | SETX | c.4298C= (p.Thr1433=) n.4482C= | |
9 | g.132327300G>T | CA375326626 | SETX | c.4298C>A (p.Thr1433Asn) n.4482C>A | |
9 | g.132327301T>A | CA375326628 | SETX | c.4297A>T (p.Thr1433Ser) n.4481A>T | |
9 | g.132327301T>C | CA200807138 | SETX | c.4297A>G (p.Thr1433Ala) n.4481A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327301T>G | CA375326630 | SETX | c.4297A>C (p.Thr1433Pro) n.4481A>C | |
9 | g.132327301T= | CA1882147283 | SETX | c.4297A= (p.Thr1433=) n.4481A= | |
9 | g.132327302dup | CA860630293 | SETX | c.4297dup (p.Thr1433AsnfsTer2) n.4481dup | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132327302T>A | CA467807698 | SETX | c.4296A>T (p.Ala1432=) n.4480A>T | |
9 | g.132327302T>C | CA467807699 | SETX | c.4296A>G (p.Ala1432=) n.4480A>G | |
9 | g.132327302T>G | CA467807700 | SETX | c.4296A>C (p.Ala1432=) n.4480A>C | |
9 | g.132327303G>A | CA375326634 | SETX | c.4295C>T (p.Ala1432Val) n.4479C>T | |
9 | g.132327303G>C | CA375326636 | SETX | c.4295C>G (p.Ala1432Gly) n.4479C>G | |
9 | g.132327303G>T | CA375326632 | SETX | c.4295C>A (p.Ala1432Glu) n.4479C>A | |
9 | g.132327303dup | CA2695211648 | SETX | c.4295dup (p.Thr1433AsnfsTer2) n.4479dup | |
9 | g.132327304C>A | CA375326640 | SETX | c.4294G>T (p.Ala1432Ser) n.4478G>T | |
9 | g.132327304C>G | CA375326638 | SETX | c.4294G>C (p.Ala1432Pro) n.4478G>C | |
9 | g.132327304C>T | CA375326639 | SETX | c.4294G>A (p.Ala1432Thr) n.4478G>A | |
9 | g.132327305T>A | CA467807701 | SETX | c.4293A>T (p.Pro1431=) n.4477A>T | |
9 | g.132327305T>C | CA467807702 | SETX | c.4293A>G (p.Pro1431=) n.4477A>G | |
9 | g.132327305T>G | CA467807703 | SETX | c.4293A>C (p.Pro1431=) n.4477A>C | |
9 | g.132327306G>A | CA375326641 | SETX | c.4292C>T (p.Pro1431Leu) n.4476C>T | dbSNP gnomAD v4 |
9 | g.132327306G>C | CA375326642 | SETX | c.4292C>G (p.Pro1431Arg) n.4476C>G | |
9 | g.132327306G= | CA1882147284 | SETX | c.4292C= (p.Pro1431=) n.4476C= | |
9 | g.132327306G>T | CA375326643 | SETX | c.4292C>A (p.Pro1431Gln) n.4476C>A | |
9 | g.132327307G>A | CA375326648 | SETX | c.4291C>T (p.Pro1431Ser) n.4475C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132327307G>C | CA5297229 | SETX | c.4291C>G (p.Pro1431Ala) n.4475C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327307G= | CA1882147285 | SETX | c.4291C= (p.Pro1431=) n.4475C= | |
9 | g.132327307G>T | CA375326646 | SETX | c.4291C>A (p.Pro1431Thr) n.4475C>A | |
9 | g.132327308A>C | CA467807706 | SETX | c.4290T>G (p.Ser1430=) n.4474T>G | |
9 | g.132327308A>G | CA467807705 | SETX | c.4290T>C (p.Ser1430=) n.4474T>C | |
9 | g.132327308A>T | CA467807704 | SETX | c.4290T>A (p.Ser1430=) n.4474T>A | |
9 | g.132327309G>A | CA375326649 | SETX | c.4289C>T (p.Ser1430Phe) n.4473C>T | |
9 | g.132327309G>C | CA375326651 | SETX | c.4289C>G (p.Ser1430Cys) n.4473C>G | |
9 | g.132327309G>T | CA375326653 | SETX | c.4289C>A (p.Ser1430Tyr) n.4473C>A | gnomAD v4 |
9 | g.132327310A>C | CA375326655 | SETX | c.4288T>G (p.Ser1430Ala) n.4472T>G | |
9 | g.132327310A>G | CA375326656 | SETX | c.4288T>C (p.Ser1430Pro) n.4472T>C | |
9 | g.132327310A>T | CA375326658 | SETX | c.4288T>A (p.Ser1430Thr) n.4472T>A | |
9 | g.132327311C>A | CA467807707 | SETX | c.4287G>T (p.Gly1429=) n.4471G>T | |
9 | g.132327311C= | CA1882147286 | SETX | c.4287G= (p.Gly1429=) n.4471G= | |
9 | g.132327311C>G | CA467807708 | SETX | c.4287G>C (p.Gly1429=) n.4471G>C | |
9 | g.132327311C>T | CA200807146 | SETX | c.4287G>A (p.Gly1429=) n.4471G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132327312C>A | CA375326661 | SETX | c.4286G>T (p.Gly1429Val) n.4470G>T | |
9 | g.132327312C>G | CA375326663 | SETX | c.4286G>C (p.Gly1429Ala) n.4470G>C | |
9 | g.132327312C>T | CA375326662 | SETX | c.4286G>A (p.Gly1429Glu) n.4470G>A | |
9 | g.132327313C>A | CA375326665 | SETX | c.4285G>T (p.Gly1429Trp) n.4469G>T | |
9 | g.132327313C>G | CA375326667 | SETX | c.4285G>C (p.Gly1429Arg) n.4469G>C | |
9 | g.132327313C>T | CA375326668 | SETX | c.4285G>A (p.Gly1429Arg) n.4469G>A | |
9 | g.132327314A= | CA1882147287 | SETX | c.4284T= (p.His1428=) n.4468T= | |
9 | g.132327314A>C | CA375326669 | SETX | c.4284T>G (p.His1428Gln) n.4468T>G | |
9 | g.132327314A>G | CA467807709 | SETX | c.4284T>C (p.His1428=) n.4468T>C | dbSNP |
9 | g.132327314A>T | CA375326671 | SETX | c.4284T>A (p.His1428Gln) n.4468T>A | |
9 | g.132327315T>A | CA375326673 | SETX | c.4283A>T (p.His1428Leu) n.4467A>T | |
9 | g.132327315T>C | CA5297230 | SETX | c.4283A>G (p.His1428Arg) n.4467A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327315T>G | CA375326675 | SETX | c.4283A>C (p.His1428Pro) n.4467A>C | |
9 | g.132327315T= | CA1882147288 | SETX | c.4283A= (p.His1428=) n.4467A= | |
9 | g.132327316G>A | CA375326677 | SETX | c.4282C>T (p.His1428Tyr) n.4466C>T | |
9 | g.132327316G>C | CA375326678 | SETX | c.4282C>G (p.His1428Asp) n.4466C>G | |
9 | g.132327316G>T | CA375326680 | SETX | c.4282C>A (p.His1428Asn) n.4466C>A | |
9 | g.132327317T>A | CA375326683 | SETX | c.4281A>T (p.Lys1427Asn) n.4465A>T | |
9 | g.132327317T>C | CA467807710 | SETX | c.4281A>G (p.Lys1427=) n.4465A>G | |
9 | g.132327317T>G | CA375326681 | SETX | c.4281A>C (p.Lys1427Asn) n.4465A>C | |
9 | g.132327318T>A | CA375326684 | SETX | c.4280A>T (p.Lys1427Ile) n.4464A>T | |
9 | g.132327318T>C | CA375326686 | SETX | c.4280A>G (p.Lys1427Arg) n.4464A>G | |
9 | g.132327318T>G | CA375326685 | SETX | c.4280A>C (p.Lys1427Thr) n.4464A>C | |
9 | g.132327319T>A | CA375326687 | SETX | c.4279A>T (p.Lys1427Ter) n.4463A>T | |
9 | g.132327319T>C | CA375326689 | SETX | c.4279A>G (p.Lys1427Glu) n.4463A>G | |
9 | g.132327319T>G | CA375326690 | SETX | c.4279A>C (p.Lys1427Gln) n.4463A>C | |
9 | g.132327320T>A | CA467807713 | SETX | c.4278A>T (p.Ala1426=) n.4462A>T | |
9 | g.132327320T>C | CA467807712 | SETX | c.4278A>G (p.Ala1426=) n.4462A>G | |
9 | g.132327320T>G | CA467807711 | SETX | c.4278A>C (p.Ala1426=) n.4462A>C | |
9 | g.132327321G>A | CA375326692 | SETX | c.4277C>T (p.Ala1426Val) n.4461C>T | dbSNP |
9 | g.132327321G>C | CA375326694 | SETX | c.4277C>G (p.Ala1426Gly) n.4461C>G | |
9 | g.132327321G>T | CA375326696 | SETX | c.4277C>A (p.Ala1426Glu) n.4461C>A | |
9 | g.132327322C>A | CA375326697 | SETX | c.4276G>T (p.Ala1426Ser) n.4460G>T | dbSNP |
9 | g.132327322C>G | CA375326698 | SETX | c.4276G>C (p.Ala1426Pro) n.4460G>C | |
9 | g.132327322C>T | CA375326700 | SETX | c.4276G>A (p.Ala1426Thr) n.4460G>A | gnomAD v4 |
9 | g.132327323T>A | CA375326702 | SETX | c.4275A>T (p.Lys1425Asn) n.4459A>T | gnomAD v4 |
9 | g.132327323T>C | CA467807714 | SETX | c.4275A>G (p.Lys1425=) n.4459A>G | dbSNP |
9 | g.132327323T>G | CA375326703 | SETX | c.4275A>C (p.Lys1425Asn) n.4459A>C | |
9 | g.132327323T= | CA1882147289 | SETX | c.4275A= (p.Lys1425=) n.4459A= | |
9 | g.132327324_132327328del | CA2692256380 | SETX | c.4271_4275del (p.Ile1424SerfsTer9) n.4455_4459del | gnomAD v4 |
9 | g.132327324T>A | CA375326708 | SETX | c.4274A>T (p.Lys1425Ile) n.4458A>T | |
9 | g.132327324T>C | CA375326706 | SETX | c.4274A>G (p.Lys1425Arg) n.4458A>G | |
9 | g.132327324T>G | CA375326705 | SETX | c.4274A>C (p.Lys1425Thr) n.4458A>C | |
9 | g.132327325T>A | CA375326710 | SETX | c.4273A>T (p.Lys1425Ter) n.4457A>T | |
9 | g.132327325T>C | CA233102 | SETX | c.4273A>G (p.Lys1425Glu) n.4457A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327325T>G | CA375326712 | SETX | c.4273A>C (p.Lys1425Gln) n.4457A>C | |
9 | g.132327325T= | CA1882147290 | SETX | c.4273A= (p.Lys1425=) n.4457A= | |
9 | g.132327326T>A | CA467807715 | SETX | c.4272A>T (p.Ile1424=) n.4456A>T | |
9 | g.132327326T>C | CA375326714 | SETX | c.4272A>G (p.Ile1424Met) n.4456A>G | |
9 | g.132327326T>G | CA467807716 | SETX | c.4272A>C (p.Ile1424=) n.4456A>C | gnomAD v4 |
9 | g.132327327A>C | CA375326715 | SETX | c.4271T>G (p.Ile1424Arg) n.4455T>G | |
9 | g.132327327A>G | CA375326716 | SETX | c.4271T>C (p.Ile1424Thr) n.4455T>C | gnomAD v4 |
9 | g.132327327A>T | CA375326718 | SETX | c.4271T>A (p.Ile1424Lys) n.4455T>A | |
9 | g.132327328T>A | CA375326719 | SETX | c.4270A>T (p.Ile1424Leu) n.4454A>T | |
9 | g.132327328T>C | CA5297231 | SETX | c.4270A>G (p.Ile1424Val) n.4454A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327328T>G | CA375326721 | SETX | c.4270A>C (p.Ile1424Leu) n.4454A>C | |
9 | g.132327328T= | CA1882147291 | SETX | c.4270A= (p.Ile1424=) n.4454A= | |
9 | g.132327329G>A | CA467807717 | SETX | c.4269C>T (p.Thr1423=) n.4453C>T | |
9 | g.132327329G>C | CA467807718 | SETX | c.4269C>G (p.Thr1423=) n.4453C>G | |
9 | g.132327329G>T | CA467807719 | SETX | c.4269C>A (p.Thr1423=) n.4453C>A | |
9 | g.132327330G>A | CA375326722 | SETX | c.4268C>T (p.Thr1423Ile) n.4452C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132327330G>C | CA375326724 | SETX | c.4268C>G (p.Thr1423Ser) n.4452C>G | |
9 | g.132327330G= | CA1882147292 | SETX | c.4268C= (p.Thr1423=) n.4452C= | |
9 | g.132327330G>T | CA375326725 | SETX | c.4268C>A (p.Thr1423Asn) n.4452C>A | |
9 | g.132327331T>A | CA375326731 | SETX | c.4267A>T (p.Thr1423Ser) n.4451A>T | |
9 | g.132327331T>C | CA375326729 | SETX | c.4267A>G (p.Thr1423Ala) n.4451A>G | dbSNP gnomAD v4 |
9 | g.132327331T>G | CA375326727 | SETX | c.4267A>C (p.Thr1423Pro) n.4451A>C | |
9 | g.132327331T= | CA1882147293 | SETX | c.4267A= (p.Thr1423=) n.4451A= | |
9 | g.132327332T>A | CA375326734 | SETX | c.4266A>T (p.Glu1422Asp) n.4450A>T | |
9 | g.132327332T>C | CA467807720 | SETX | c.4266A>G (p.Glu1422=) n.4450A>G | |
9 | g.132327332T>G | CA375326732 | SETX | c.4266A>C (p.Glu1422Asp) n.4450A>C | |
9 | g.132327333T>A | CA375326738 | SETX | c.4265A>T (p.Glu1422Val) n.4449A>T | |
9 | g.132327333T>C | CA375326736 | SETX | c.4265A>G (p.Glu1422Gly) n.4449A>G | |
9 | g.132327333T>G | CA375326739 | SETX | c.4265A>C (p.Glu1422Ala) n.4449A>C | gnomAD v4 |
9 | g.132327334C>A | CA375326741 | SETX | c.4264G>T (p.Glu1422Ter) n.4448G>T | |
9 | g.132327334C>G | CA375326742 | SETX | c.4264G>C (p.Glu1422Gln) n.4448G>C | |
9 | g.132327334C>T | CA375326744 | SETX | c.4264G>A (p.Glu1422Lys) n.4448G>A | |
9 | g.132327335T>A | CA467807721 | SETX | c.4263A>T (p.Pro1421=) n.4447A>T | |
9 | g.132327335T>C | CA467807722 | SETX | c.4263A>G (p.Pro1421=) n.4447A>G | |
9 | g.132327335T>G | CA5297232 | SETX | c.4263A>C (p.Pro1421=) n.4447A>C | dbSNP ExAC gnomAD v2 |
9 | g.132327335T= | CA1882147294 | SETX | c.4263A= (p.Pro1421=) n.4447A= | |
9 | g.132327336G>A | CA375326747 | SETX | c.4262C>T (p.Pro1421Leu) n.4446C>T | |
9 | g.132327336G>C | CA200807172 | SETX | c.4262C>G (p.Pro1421Arg) n.4446C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.132327336G= | CA1882147295 | SETX | c.4262C= (p.Pro1421=) n.4446C= | |
9 | g.132327336G>T | CA375326750 | SETX | c.4262C>A (p.Pro1421Gln) n.4446C>A | |
9 | g.132327337G>A | CA375326752 | SETX | c.4261C>T (p.Pro1421Ser) n.4445C>T | gnomAD v4 |
9 | g.132327337G>C | CA375326759 | SETX | c.4261C>G (p.Pro1421Ala) n.4445C>G | dbSNP gnomAD v4 |
9 | g.132327337G>T | CA375326761 | SETX | c.4261C>A (p.Pro1421Thr) n.4445C>A | |
9 | g.132327338T>A | CA375326765 | SETX | c.4260A>T (p.Glu1420Asp) n.4444A>T | gnomAD v4 |
9 | g.132327338T>C | CA467807723 | SETX | c.4260A>G (p.Glu1420=) n.4444A>G | gnomAD v4 |
9 | g.132327338T>G | CA375326767 | SETX | c.4260A>C (p.Glu1420Asp) n.4444A>C | |
9 | g.132327339T>A | CA375326773 | SETX | c.4259A>T (p.Glu1420Val) n.4443A>T | |
9 | g.132327339T>C | CA375326768 | SETX | c.4259A>G (p.Glu1420Gly) n.4443A>G | ClinVar |
9 | g.132327339T>G | CA375326770 | SETX | c.4259A>C (p.Glu1420Ala) n.4443A>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132327339T= | CA1882147296 | SETX | c.4259A= (p.Glu1420=) n.4443A= | |
9 | g.132327340C>A | CA375326775 | SETX | c.4258G>T (p.Glu1420Ter) n.4442G>T | |
9 | g.132327340C>G | CA375326777 | SETX | c.4258G>C (p.Glu1420Gln) n.4442G>C | |
9 | g.132327340C>T | CA375326778 | SETX | c.4258G>A (p.Glu1420Lys) n.4442G>A | |
9 | g.132327341A>C | CA467807724 | SETX | c.4257T>G (p.Ser1419=) n.4441T>G | |
9 | g.132327341A>G | CA467807725 | SETX | c.4257T>C (p.Ser1419=) n.4441T>C | |
9 | g.132327341A>T | CA467807726 | SETX | c.4257T>A (p.Ser1419=) n.4441T>A | |
9 | g.132327342G>A | CA375326780 | SETX | c.4256C>T (p.Ser1419Phe) n.4440C>T | gnomAD v4 |
9 | g.132327342G>C | CA375326782 | SETX | c.4256C>G (p.Ser1419Cys) n.4440C>G | |
9 | g.132327342G>T | CA375326784 | SETX | c.4256C>A (p.Ser1419Tyr) n.4440C>A | |
9 | g.132327343A>C | CA375326785 | SETX | c.4255T>G (p.Ser1419Ala) n.4439T>G | |
9 | g.132327343A>G | CA375326787 | SETX | c.4255T>C (p.Ser1419Pro) n.4439T>C | |
9 | g.132327343A>T | CA375326788 | SETX | c.4255T>A (p.Ser1419Thr) n.4439T>A | |
9 | g.132327344A>C | CA467807727 | SETX | c.4254T>G (p.Pro1418=) n.4438T>G | |
9 | g.132327344A>G | CA467807728 | SETX | c.4254T>C (p.Pro1418=) n.4438T>C | |
9 | g.132327344A>T | CA467807729 | SETX | c.4254T>A (p.Pro1418=) n.4438T>A | |
9 | g.132327345G>A | CA375326790 | SETX | c.4253C>T (p.Pro1418Leu) n.4437C>T | dbSNP gnomAD v4 |
9 | g.132327345G>C | CA375326793 | SETX | c.4253C>G (p.Pro1418Arg) n.4437C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132327345G= | CA1882147297 | SETX | c.4253C= (p.Pro1418=) n.4437C= | |
9 | g.132327345G>T | CA375326795 | SETX | c.4253C>A (p.Pro1418His) n.4437C>A | dbSNP |
9 | g.132327346G>A | CA375326798 | SETX | c.4252C>T (p.Pro1418Ser) n.4436C>T | |
9 | g.132327346G>C | CA5297233 | SETX | c.4252C>G (p.Pro1418Ala) n.4436C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327346G= | CA1882147298 | SETX | c.4252C= (p.Pro1418=) n.4436C= | |
9 | g.132327346G>T | CA375326797 | SETX | c.4252C>A (p.Pro1418Thr) n.4436C>A | |
9 | g.132327347C>A | CA375326803 | SETX | c.4251G>T (p.Met1417Ile) n.4435G>T | |
9 | g.132327347C= | CA1882147299 | SETX | c.4251G= (p.Met1417=) n.4435G= | |
9 | g.132327347C>G | CA375326799 | SETX | c.4251G>C (p.Met1417Ile) n.4435G>C | dbSNP |
9 | g.132327347C>T | CA375326801 | SETX | c.4251G>A (p.Met1417Ile) n.4435G>A | |
9 | g.132327348A>C | CA375326804 | SETX | c.4250T>G (p.Met1417Arg) n.4434T>G | |
9 | g.132327348A>G | CA375326805 | SETX | c.4250T>C (p.Met1417Thr) n.4434T>C | |
9 | g.132327348A>T | CA375326809 | SETX | c.4250T>A (p.Met1417Lys) n.4434T>A | |
9 | g.132327349T>A | CA375326814 | SETX | c.4249A>T (p.Met1417Leu) n.4433A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327349T>C | CA375326813 | SETX | c.4249A>G (p.Met1417Val) n.4433A>G | dbSNP |
9 | g.132327349T>G | CA375326811 | SETX | c.4249A>C (p.Met1417Leu) n.4433A>C | |
9 | g.132327349T= | CA1882147300 | SETX | c.4249A= (p.Met1417=) n.4433A= | |
9 | g.132327350G>A | CA5297235 | SETX | c.4248C>T (p.Cys1416=) n.4432C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132327350G>C | CA5297234 | SETX | c.4248C>G (p.Cys1416Trp) n.4432C>G | dbSNP ExAC gnomAD v2 |
9 | g.132327350G= | CA1882147301 | SETX | c.4248C= (p.Cys1416=) n.4432C= | |
9 | g.132327350G>T | CA375326817 | SETX | c.4248C>A (p.Cys1416Ter) n.4432C>A | |
9 | g.132327351C>A | CA375326818 | SETX | c.4247G>T (p.Cys1416Phe) n.4431G>T | |
9 | g.132327351C>G | CA375326819 | SETX | c.4247G>C (p.Cys1416Ser) n.4431G>C | |
9 | g.132327351C>T | CA375326820 | SETX | c.4247G>A (p.Cys1416Tyr) n.4431G>A | COSMIC COSMIC |
9 | g.132327352A= | CA1882147302 | SETX | c.4246T= (p.Cys1416=) n.4430T= | |
9 | g.132327352A>C | CA375326822 | SETX | c.4246T>G (p.Cys1416Gly) n.4430T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327352A>G | CA375326825 | SETX | c.4246T>C (p.Cys1416Arg) n.4430T>C | |
9 | g.132327352A>T | CA5297236 | SETX | c.4246T>A (p.Cys1416Ser) n.4430T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132327353T>A | CA375326827 | SETX | c.4245A>T (p.Lys1415Asn) n.4429A>T | |
9 | g.132327353T>C | CA467807730 | SETX | c.4245A>G (p.Lys1415=) n.4429A>G | |
9 | g.132327353T>G | CA375326828 | SETX | c.4245A>C (p.Lys1415Asn) n.4429A>C | |
9 | g.132327354T>A | CA375326830 | SETX | c.4244A>T (p.Lys1415Ile) n.4428A>T | |
9 | g.132327354T>C | CA375326831 | SETX | c.4244A>G (p.Lys1415Arg) n.4428A>G | gnomAD v4 |
9 | g.132327354T>G | CA375326834 | SETX | c.4244A>C (p.Lys1415Thr) n.4428A>C | |
9 | g.132327355T>A | CA375326840 | SETX | c.4243A>T (p.Lys1415Ter) n.4427A>T | |
9 | g.132327355T>C | CA375326843 | SETX | c.4243A>G (p.Lys1415Glu) n.4427A>G | |
9 | g.132327355T>G | CA375326845 | SETX | c.4243A>C (p.Lys1415Gln) n.4427A>C | |
9 | g.132327356T>A | CA467807731 | SETX | c.4242A>T (p.Ile1414=) n.4426A>T | |
9 | g.132327356T>C | CA375326846 | SETX | c.4242A>G (p.Ile1414Met) n.4426A>G | gnomAD v4 |
9 | g.132327356T>G | CA467807732 | SETX | c.4242A>C (p.Ile1414=) n.4426A>C | |
9 | g.132327357A>C | CA375326847 | SETX | c.4241T>G (p.Ile1414Arg) n.4425T>G | |
9 | g.132327357A>G | CA375326848 | SETX | c.4241T>C (p.Ile1414Thr) n.4425T>C | |
9 | g.132327357A>T | CA375326849 | SETX | c.4241T>A (p.Ile1414Lys) n.4425T>A | |
9 | g.132327358T>A | CA375326853 | SETX | c.4240A>T (p.Ile1414Leu) n.4424A>T | |
9 | g.132327358T>C | CA5297237 | SETX | c.4240A>G (p.Ile1414Val) n.4424A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132327358T>G | CA375326851 | SETX | c.4240A>C (p.Ile1414Leu) n.4424A>C | |
9 | g.132327358T= | CA1882147303 | SETX | c.4240A= (p.Ile1414=) n.4424A= | |
9 | g.132327359T>A | CA375326855 | SETX | c.4239A>T (p.Leu1413Phe) n.4423A>T | |
9 | g.132327359T>C | CA467807733 | SETX | c.4239A>G (p.Leu1413=) n.4423A>G | |
9 | g.132327359T>G | CA375326856 | SETX | c.4239A>C (p.Leu1413Phe) n.4423A>C | |
9 | g.132327359_132327364delinsTAACTG | CA1882147304 | SETX | c.4234_4239delinsCAGTTA (p.Gln1412=) n.4418_4423delinsCAGTTA | |
9 | g.132327360A= | CA1882147305 | SETX | c.4238T= (p.Leu1413=) n.4422T= | |
9 | g.132327360A>C | CA375326859 | SETX | c.4238T>G (p.Leu1413Ter) n.4422T>G | |
9 | g.132327360A>G | CA375326860 | SETX | c.4238T>C (p.Leu1413Ser) n.4422T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132327360A>T | CA375326862 | SETX | c.4238T>A (p.Leu1413Ter) n.4422T>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132327360_132327364del | CA1129644153 | SETX | c.4234_4238del (p.Gln1412AsnfsTer7) n.4418_4422del | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132327361A>C | CA375326864 | SETX | c.4237T>G (p.Leu1413Val) n.4421T>G | |
9 | g.132327361A>G | CA467807734 | SETX | c.4237T>C (p.Leu1413=) n.4421T>C | |
9 | g.132327361A>T | CA375326866 | SETX | c.4237T>A (p.Leu1413Ile) n.4421T>A | |
9 | g.132327362C>A | CA375326867 | SETX | c.4236G>T (p.Gln1412His) n.4420G>T | |
9 | g.132327362C>G | CA375326869 | SETX | c.4236G>C (p.Gln1412His) n.4420G>C | |
9 | g.132327362C>T | CA467807735 | SETX | c.4236G>A (p.Gln1412=) n.4420G>A | |
9 | g.132327363T>A | CA5297238 | SETX | c.4235A>T (p.Gln1412Leu) n.4419A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132327363T>C | CA375326871 | SETX | c.4235A>G (p.Gln1412Arg) n.4419A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132327363T>G | CA375326873 | SETX | c.4235A>C (p.Gln1412Pro) n.4419A>C | |
9 | g.132327363T= | CA1882147306 | SETX | c.4235A= (p.Gln1412=) n.4419A= | |
9 | g.132327364G>A | CA375326876 | SETX | c.4234C>T (p.Gln1412Ter) n.4418C>T | |
9 | g.132327364G>C | CA375326878 | SETX | c.4234C>G (p.Gln1412Glu) n.4418C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132327364G= | CA1882147307 | SETX | c.4234C= (p.Gln1412=) n.4418C= | |
9 | g.132327364G>T | CA375326880 | SETX | c.4234C>A (p.Gln1412Lys) n.4418C>A | |
9 | g.132327365T>A | CA375326882 | SETX | c.4233A>T (p.Lys1411Asn) n.4417A>T | |
9 | g.132327365T>C | CA5297239 | SETX | c.4233A>G (p.Lys1411=) n.4417A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327365T>G | CA375326883 | SETX | c.4233A>C (p.Lys1411Asn) n.4417A>C | |
9 | g.132327365T= | CA1882147308 | SETX | c.4233A= (p.Lys1411=) n.4417A= | |
9 | g.132327368del | CA2579491636 | SETX | c.4233del (p.Lys1411AsnfsTer3) n.4417del | |
9 | g.132327366T>A | CA375326886 | SETX | c.4232A>T (p.Lys1411Ile) n.4416A>T | |
9 | g.132327366T>C | CA375326887 | SETX | c.4232A>G (p.Lys1411Arg) n.4416A>G | |
9 | g.132327366T>G | CA375326889 | SETX | c.4232A>C (p.Lys1411Thr) n.4416A>C | |
9 | g.132327367T>A | CA375326891 | SETX | c.4231A>T (p.Lys1411Ter) n.4415A>T | |
9 | g.132327367T>C | CA5297240 | SETX | c.4231A>G (p.Lys1411Glu) n.4415A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132327367T>G | CA375326893 | SETX | c.4231A>C (p.Lys1411Gln) n.4415A>C | |
9 | g.132327367T= | CA1882147309 | SETX | c.4231A= (p.Lys1411=) n.4415A= | |
9 | g.132327368T>A | CA375326895 | SETX | c.4230A>T (p.Arg1410Ser) n.4414A>T | |
9 | g.132327368T>C | CA467807736 | SETX | c.4230A>G (p.Arg1410=) n.4414A>G | |
9 | g.132327368T>G | CA5297241 | SETX | c.4230A>C (p.Arg1410Ser) n.4414A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132327368T= | CA1882147310 | SETX | c.4230A= (p.Arg1410=) n.4414A= | |
9 | g.132327369C>A | CA375326897 | SETX | c.4229G>T (p.Arg1410Ile) n.4413G>T | |
9 | g.132327369C= | CA1882147311 | SETX | c.4229G= (p.Arg1410=) n.4413G= | |
9 | g.132327369C>G | CA375326899 | SETX | c.4229G>C (p.Arg1410Thr) n.4413G>C | dbSNP |
9 | g.132327369C>T | CA375326900 | SETX | c.4229G>A (p.Arg1410Lys) n.4413G>A | |
9 | g.132327370T>A | CA375326902 | SETX | c.4228A>T (p.Arg1410Ter) n.4412A>T | |
9 | g.132327370T>C | CA375326903 | SETX | c.4228A>G (p.Arg1410Gly) n.4412A>G | dbSNP gnomAD v4 |
9 | g.132327370T>G | CA467807737 | SETX | c.4228A>C (p.Arg1410=) n.4412A>C | |
9 | g.132327370T= | CA1882147312 | SETX | c.4228A= (p.Arg1410=) n.4412A= | |
9 | g.132327371G>A | CA467807738 | SETX | c.4227C>T (p.Asn1409=) n.4411C>T | gnomAD v4 |
9 | g.132327371G>C | CA375326905 | SETX | c.4227C>G (p.Asn1409Lys) n.4411C>G | gnomAD v4 |
9 | g.132327371G>T | CA375326907 | SETX | c.4227C>A (p.Asn1409Lys) n.4411C>A | |
9 | g.132327372T>A | CA375326909 | SETX | c.4226A>T (p.Asn1409Ile) n.4410A>T | |
9 | g.132327372T>C | CA375326910 | SETX | c.4226A>G (p.Asn1409Ser) n.4410A>G | |
9 | g.132327372T>G | CA375326912 | SETX | c.4226A>C (p.Asn1409Thr) n.4410A>C | |
9 | g.132327373T>A | CA233099 | SETX | c.4225A>T (p.Asn1409Tyr) n.4409A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327373T>C | CA5297242 | SETX | c.4225A>G (p.Asn1409Asp) n.4409A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132327373T>G | CA375326915 | SETX | c.4225A>C (p.Asn1409His) n.4409A>C | |
9 | g.132327373T= | CA1882147313 | SETX | c.4225A= (p.Asn1409=) n.4409A= | |
9 | g.132327374A>C | CA375326917 | SETX | c.4224T>G (p.Ser1408Arg) n.4408T>G | |
9 | g.132327374A>G | CA467807739 | SETX | c.4224T>C (p.Ser1408=) n.4408T>C | |
9 | g.132327374A>T | CA375326919 | SETX | c.4224T>A (p.Ser1408Arg) n.4408T>A | |
9 | g.132327375C>A | CA375326921 | SETX | c.4223G>T (p.Ser1408Ile) n.4407G>T | |
9 | g.132327375C= | CA1882147314 | SETX | c.4223G= (p.Ser1408=) n.4407G= | |
9 | g.132327375C>G | CA375326922 | SETX | c.4223G>C (p.Ser1408Thr) n.4407G>C | dbSNP |
9 | g.132327375C>T | CA375326924 | SETX | c.4223G>A (p.Ser1408Asn) n.4407G>A | |
9 | g.132327376T>A | CA375326928 | SETX | c.4222A>T (p.Ser1408Cys) n.4406A>T | |
9 | g.132327376T>C | CA200807217 | SETX | c.4222A>G (p.Ser1408Gly) n.4406A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327376T>G | CA375326927 | SETX | c.4222A>C (p.Ser1408Arg) n.4406A>C | dbSNP gnomAD v4 |
9 | g.132327376T= | CA1882147315 | SETX | c.4222A= (p.Ser1408=) n.4406A= | |
9 | g.132327377G>A | CA467807740 | SETX | c.4221C>T (p.Asn1407=) n.4405C>T | |
9 | g.132327377G>C | CA375326929 | SETX | c.4221C>G (p.Asn1407Lys) n.4405C>G | |
9 | g.132327377G>T | CA375326931 | SETX | c.4221C>A (p.Asn1407Lys) n.4405C>A | gnomAD v4 |
9 | g.132327378T>A | CA375326933 | SETX | c.4220A>T (p.Asn1407Ile) n.4404A>T | |
9 | g.132327378T>C | CA5297243 | SETX | c.4220A>G (p.Asn1407Ser) n.4404A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327378T>G | CA375326935 | SETX | c.4220A>C (p.Asn1407Thr) n.4404A>C | |
9 | g.132327378T= | CA1882147316 | SETX | c.4220A= (p.Asn1407=) n.4404A= | |
9 | g.132327379T>A | CA375326937 | SETX | c.4219A>T (p.Asn1407Tyr) n.4403A>T | |
9 | g.132327379T>C | CA375326938 | SETX | c.4219A>G (p.Asn1407Asp) n.4403A>G | |
9 | g.132327379T>G | CA375326939 | SETX | c.4219A>C (p.Asn1407His) n.4403A>C | |
9 | g.132327380G>A | CA467807741 | SETX | c.4218C>T (p.Ala1406=) n.4402C>T | |
9 | g.132327380G>C | CA467807742 | SETX | c.4218C>G (p.Ala1406=) n.4402C>G | |
9 | g.132327380G>T | CA467807743 | SETX | c.4218C>A (p.Ala1406=) n.4402C>A | |
9 | g.132327381G>A | CA375326940 | SETX | c.4217C>T (p.Ala1406Val) n.4401C>T | |
9 | g.132327381G>C | CA200807227 | SETX | c.4217C>G (p.Ala1406Gly) n.4401C>G | ClinVar dbSNP gnomAD v4 |
9 | g.132327381G= | CA1882147317 | SETX | c.4217C= (p.Ala1406=) n.4401C= | |
9 | g.132327381G>T | CA5297244 | SETX | c.4217C>A (p.Ala1406Asp) n.4401C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132327382C>A | CA375326943 | SETX | c.4216G>T (p.Ala1406Ser) n.4400G>T | |
9 | g.132327382C= | CA1882147318 | SETX | c.4216G= (p.Ala1406=) n.4400G= | |
9 | g.132327382C>G | CA375326942 | SETX | c.4216G>C (p.Ala1406Pro) n.4400G>C | |
9 | g.132327382C>T | CA5297245 | SETX | c.4216G>A (p.Ala1406Thr) n.4400G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327383A>C | CA467807746 | SETX | c.4215T>G (p.Leu1405=) n.4399T>G | |
9 | g.132327383A>G | CA467807744 | SETX | c.4215T>C (p.Leu1405=) n.4399T>C | dbSNP |
9 | g.132327383A>T | CA467807745 | SETX | c.4215T>A (p.Leu1405=) n.4399T>A | |
9 | g.132327384A>C | CA375326944 | SETX | c.4214T>G (p.Leu1405Arg) n.4398T>G | |
9 | g.132327384A>G | CA375326946 | SETX | c.4214T>C (p.Leu1405Pro) n.4398T>C | gnomAD v4 |
9 | g.132327384A>T | CA375326945 | SETX | c.4214T>A (p.Leu1405His) n.4398T>A | |
9 | g.132327385G>A | CA5297246 | SETX | c.4213C>T (p.Leu1405Phe) n.4397C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327385G>C | CA375326948 | SETX | c.4213C>G (p.Leu1405Val) n.4397C>G | dbSNP |
9 | g.132327385G= | CA1882147319 | SETX | c.4213C= (p.Leu1405=) n.4397C= | |
9 | g.132327385G>T | CA375326947 | SETX | c.4213C>A (p.Leu1405Ile) n.4397C>A | |
9 | g.132327386T>A | CA467807747 | SETX | c.4212A>T (p.Val1404=) n.4396A>T | |
9 | g.132327386T>C | CA467807748 | SETX | c.4212A>G (p.Val1404=) n.4396A>G | gnomAD v4 |
9 | g.132327386T>G | CA467807749 | SETX | c.4212A>C (p.Val1404=) n.4396A>C | |
9 | g.132327387A>C | CA375326950 | SETX | c.4211T>G (p.Val1404Gly) n.4395T>G | |
9 | g.132327387A>G | CA375326951 | SETX | c.4211T>C (p.Val1404Ala) n.4395T>C | |
9 | g.132327387A>T | CA375326952 | SETX | c.4211T>A (p.Val1404Glu) n.4395T>A | |
9 | g.132327388C>A | CA375326954 | SETX | c.4210G>T (p.Val1404Leu) n.4394G>T | |
9 | g.132327388C= | CA1882147320 | SETX | c.4210G= (p.Val1404=) n.4394G= | |
9 | g.132327388C>G | CA375326956 | SETX | c.4210G>C (p.Val1404Leu) n.4394G>C | |
9 | g.132327388C>T | CA375326957 | SETX | c.4210G>A (p.Val1404Ile) n.4394G>A | ClinVar dbSNP gnomAD v4 |
9 | g.132327389C>A | CA375326958 | SETX | c.4209G>T (p.Glu1403Asp) n.4393G>T | |
9 | g.132327389C= | CA1882147321 | SETX | c.4209G= (p.Glu1403=) n.4393G= | |
9 | g.132327389C>G | CA375326961 | SETX | c.4209G>C (p.Glu1403Asp) n.4393G>C | |
9 | g.132327389C>T | CA467807750 | SETX | c.4209G>A (p.Glu1403=) n.4393G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327389_132327390insAACAAATGAAGTAA | CA918568264 | SETX | c.4208_4209insTTACTTCATTTGTT (p.Glu1403AspfsTer16) n.4392_4393insTTACTTCATTTGTT | dbSNP |
9 | g.132327390T>A | CA375326963 | SETX | c.4208A>T (p.Glu1403Val) n.4392A>T | |
9 | g.132327390T>C | CA375326964 | SETX | c.4208A>G (p.Glu1403Gly) n.4392A>G | |
9 | g.132327390T>G | CA375326966 | SETX | c.4208A>C (p.Glu1403Ala) n.4392A>C | |
9 | g.132327391C>A | CA375326968 | SETX | c.4207G>T (p.Glu1403Ter) n.4391G>T | |
9 | g.132327391C>G | CA375326970 | SETX | c.4207G>C (p.Glu1403Gln) n.4391G>C | |
9 | g.132327391C>T | CA375326969 | SETX | c.4207G>A (p.Glu1403Lys) n.4391G>A | |
9 | g.132327392A>C | CA467807751 | SETX | c.4206T>G (p.Thr1402=) n.4390T>G | |
9 | g.132327392A>G | CA467807752 | SETX | c.4206T>C (p.Thr1402=) n.4390T>C | |
9 | g.132327392A>T | CA467807753 | SETX | c.4206T>A (p.Thr1402=) n.4390T>A | |
9 | g.132327393G>A | CA375326973 | SETX | c.4205C>T (p.Thr1402Ile) n.4389C>T | dbSNP gnomAD v4 |
9 | g.132327393G>C | CA375326975 | SETX | c.4205C>G (p.Thr1402Ser) n.4389C>G | |
9 | g.132327393G>T | CA375326976 | SETX | c.4205C>A (p.Thr1402Asn) n.4389C>A | |
9 | g.132327394T>A | CA5297247 | SETX | c.4204A>T (p.Thr1402Ser) n.4388A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327394T>C | CA375326979 | SETX | c.4204A>G (p.Thr1402Ala) n.4388A>G | |
9 | g.132327394T>G | CA375326982 | SETX | c.4204A>C (p.Thr1402Pro) n.4388A>C | |
9 | g.132327394T= | CA1882147322 | SETX | c.4204A= (p.Thr1402=) n.4388A= | |
9 | g.132327395T>A | CA467807754 | SETX | c.4203A>T (p.Gly1401=) n.4387A>T | |
9 | g.132327395T>C | CA467807756 | SETX | c.4203A>G (p.Gly1401=) n.4387A>G | |
9 | g.132327395T>G | CA467807755 | SETX | c.4203A>C (p.Gly1401=) n.4387A>C | gnomAD v4 |
9 | g.132327396C>A | CA5297248 | SETX | c.4202G>T (p.Gly1401Val) n.4386G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327396C= | CA1882147323 | SETX | c.4202G= (p.Gly1401=) n.4386G= | |
9 | g.132327396C>G | CA375326984 | SETX | c.4202G>C (p.Gly1401Ala) n.4386G>C | |
9 | g.132327396C>T | CA375326985 | SETX | c.4202G>A (p.Gly1401Glu) n.4386G>A | |
9 | g.132327397C>A | CA375326987 | SETX | c.4201G>T (p.Gly1401Ter) n.4385G>T | |
9 | g.132327397C>G | CA375326988 | SETX | c.4201G>C (p.Gly1401Arg) n.4385G>C | |
9 | g.132327397C>T | CA375326986 | SETX | c.4201G>A (p.Gly1401Arg) n.4385G>A |