Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
9 | g.132327398T>A | CA467807757 | SETX | c.4200A>T (p.Gly1400=) n.4384A>T | |
9 | g.132327398T>C | CA467807758 | SETX | c.4200A>G (p.Gly1400=) n.4384A>G | |
9 | g.132327398T>G | CA5297249 | SETX | c.4200A>C (p.Gly1400=) n.4384A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132327398T= | CA1882147324 | SETX | c.4200A= (p.Gly1400=) n.4384A= | |
9 | g.132327399C>A | CA375326990 | SETX | c.4199G>T (p.Gly1400Val) n.4383G>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132327399C= | CA1882147325 | SETX | c.4199G= (p.Gly1400=) n.4383G= | |
9 | g.132327399C>G | CA375326991 | SETX | c.4199G>C (p.Gly1400Ala) n.4383G>C | |
9 | g.132327399C>T | CA375326993 | SETX | c.4199G>A (p.Gly1400Glu) n.4383G>A | |
9 | g.132327400C>A | CA375326995 | SETX | c.4198G>T (p.Gly1400Ter) n.4382G>T | |
9 | g.132327400C>G | CA375326996 | SETX | c.4198G>C (p.Gly1400Arg) n.4382G>C | |
9 | g.132327400C>T | CA375326998 | SETX | c.4198G>A (p.Gly1400Arg) n.4382G>A | gnomAD v4 |
9 | g.132327401T>A | CA467807759 | SETX | c.4197A>T (p.Thr1399=) n.4381A>T | |
9 | g.132327401T>C | CA5297250 | SETX | c.4197A>G (p.Thr1399=) n.4381A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327401T>G | CA467807760 | SETX | c.4197A>C (p.Thr1399=) n.4381A>C | |
9 | g.132327401T= | CA1882147326 | SETX | c.4197A= (p.Thr1399=) n.4381A= | |
9 | g.132327402G>A | CA375327000 | SETX | c.4196C>T (p.Thr1399Ile) n.4380C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132327402G>C | CA375327002 | SETX | c.4196C>G (p.Thr1399Arg) n.4380C>G | |
9 | g.132327402G= | CA1882147327 | SETX | c.4196C= (p.Thr1399=) n.4380C= | |
9 | g.132327402G>T | CA375327003 | SETX | c.4196C>A (p.Thr1399Lys) n.4380C>A | |
9 | g.132327402_132327404del | CA2692256381 | SETX | c.4194_4196del (p.Cys1398Ter) n.4378_4380del | gnomAD v4 |
9 | g.132327403T>A | CA375327005 | SETX | c.4195A>T (p.Thr1399Ser) n.4379A>T | |
9 | g.132327403T>C | CA375327006 | SETX | c.4195A>G (p.Thr1399Ala) n.4379A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327403T>G | CA375327004 | SETX | c.4195A>C (p.Thr1399Pro) n.4379A>C | |
9 | g.132327403T= | CA1882147328 | SETX | c.4195A= (p.Thr1399=) n.4379A= | |
9 | g.132327404A= | CA1882147329 | SETX | c.4194T= (p.Cys1398=) n.4378T= | |
9 | g.132327404A>C | CA375327007 | SETX | c.4194T>G (p.Cys1398Trp) n.4378T>G | dbSNP |
9 | g.132327404A>G | CA5297251 | SETX | c.4194T>C (p.Cys1398=) n.4378T>C | dbSNP ExAC gnomAD v4 |
9 | g.132327404A>T | CA375327009 | SETX | c.4194T>A (p.Cys1398Ter) n.4378T>A | |
9 | g.132327405C>A | CA5297252 | SETX | c.4193G>T (p.Cys1398Phe) n.4377G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327405C= | CA1882147330 | SETX | c.4193G= (p.Cys1398=) n.4377G= | |
9 | g.132327405C>G | CA375327011 | SETX | c.4193G>C (p.Cys1398Ser) n.4377G>C | |
9 | g.132327405C>T | CA375327013 | SETX | c.4193G>A (p.Cys1398Tyr) n.4377G>A | dbSNP |
9 | g.132327406A= | CA1882147331 | SETX | c.4192T= (p.Cys1398=) n.4376T= | |
9 | g.132327406A>C | CA375327015 | SETX | c.4192T>G (p.Cys1398Gly) n.4376T>G | |
9 | g.132327406A>G | CA375327018 | SETX | c.4192T>C (p.Cys1398Arg) n.4376T>C | |
9 | g.132327406A>T | CA375327017 | SETX | c.4192T>A (p.Cys1398Ser) n.4376T>A | dbSNP gnomAD v2 |
9 | g.132327407_132327410dup | CA2692256382 | SETX | c.4189_4192dup (p.Cys1398Ter) n.4373_4376dup | gnomAD v4 |
9 | g.132327407A= | CA1882147332 | SETX | c.4191T= (p.Asn1397=) n.4375T= | |
9 | g.132327407A>C | CA375327020 | SETX | c.4191T>G (p.Asn1397Lys) n.4375T>G | |
9 | g.132327407A>G | CA467807761 | SETX | c.4191T>C (p.Asn1397=) n.4375T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132327407A>T | CA375327022 | SETX | c.4191T>A (p.Asn1397Lys) n.4375T>A | |
9 | g.132327408T>A | CA375327024 | SETX | c.4190A>T (p.Asn1397Ile) n.4374A>T | |
9 | g.132327408T>C | CA375327025 | SETX | c.4190A>G (p.Asn1397Ser) n.4374A>G | |
9 | g.132327408T>G | CA375327026 | SETX | c.4190A>C (p.Asn1397Thr) n.4374A>C | |
9 | g.132327409T>A | CA375327030 | SETX | c.4189A>T (p.Asn1397Tyr) n.4373A>T | |
9 | g.132327409T>C | CA5297253 | SETX | c.4189A>G (p.Asn1397Asp) n.4373A>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.132327409T>G | CA375327029 | SETX | c.4189A>C (p.Asn1397His) n.4373A>C | |
9 | g.132327409T= | CA1882147333 | SETX | c.4189A= (p.Asn1397=) n.4373A= | |
9 | g.132327410A>C | CA375327035 | SETX | c.4188T>G (p.Tyr1396Ter) n.4372T>G | |
9 | g.132327410A>G | CA467806892 | SETX | c.4188T>C (p.Tyr1396=) n.4372T>C | gnomAD v4 |
9 | g.132327410A>T | CA375327033 | SETX | c.4188T>A (p.Tyr1396Ter) n.4372T>A | |
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= | |
9 | g.132327424C>G | CA375327089 | SETX | c.4174G>C (p.Asp1392His) n.4358G>C | |
9 | g.132327424C>T | CA5297258 | SETX | c.4174G>A (p.Asp1392Asn) n.4358G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132327425A>C | CA467806901 | SETX | c.4173T>G (p.Ser1391=) n.4357T>G | |
9 | g.132327425A>G | CA467806902 | SETX | c.4173T>C (p.Ser1391=) n.4357T>C | |
9 | g.132327425A>T | CA467806903 | SETX | c.4173T>A (p.Ser1391=) n.4357T>A | |
9 | g.132327426G>A | CA375327091 | SETX | c.4172C>T (p.Ser1391Phe) n.4356C>T | |
9 | g.132327426G>C | CA375327092 | SETX | c.4172C>G (p.Ser1391Cys) n.4356C>G | |
9 | g.132327426G>T | CA375327094 | SETX | c.4172C>A (p.Ser1391Tyr) n.4356C>A | |
9 | g.132327427A>C | CA375327095 | SETX | c.4171T>G (p.Ser1391Ala) n.4355T>G | |
9 | g.132327427A>G | CA375327097 | SETX | c.4171T>C (p.Ser1391Pro) n.4355T>C | |
9 | g.132327427A>T | CA375327098 | SETX | c.4171T>A (p.Ser1391Thr) n.4355T>A | |
9 | g.132327428T>A | CA375327100 | SETX | c.4170A>T (p.Glu1390Asp) n.4354A>T | |
9 | g.132327428T>C | CA467806904 | SETX | c.4170A>G (p.Glu1390=) n.4354A>G | |
9 | g.132327428T>G | CA375327102 | SETX | c.4170A>C (p.Glu1390Asp) n.4354A>C | |
9 | g.132327429T>A | CA375327107 | SETX | c.4169A>T (p.Glu1390Val) n.4353A>T | |
9 | g.132327429T>C | CA375327105 | SETX | c.4169A>G (p.Glu1390Gly) n.4353A>G | |
9 | g.132327429T>G | CA375327103 | SETX | c.4169A>C (p.Glu1390Ala) n.4353A>C | |
9 | g.132327430C>A | CA375327109 | SETX | c.4168G>T (p.Glu1390Ter) n.4352G>T | |
9 | g.132327430C= | CA1882147343 | SETX | c.4168G= (p.Glu1390=) n.4352G= | |
9 | g.132327430C>G | CA375327110 | SETX | c.4168G>C (p.Glu1390Gln) n.4352G>C | dbSNP gnomAD v4 |
9 | g.132327430C>T | CA375327111 | SETX | c.4168G>A (p.Glu1390Lys) n.4352G>A | |
9 | g.132327431T>A | CA200807298 | SETX | c.4167A>T (p.Pro1389=) n.4351A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132327431T>C | CA5297259 | SETX | c.4167A>G (p.Pro1389=) n.4351A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132327431T>G | CA467806905 | SETX | c.4167A>C (p.Pro1389=) n.4351A>C | gnomAD v4 |
9 | g.132327431T= | CA1882147344 | SETX | c.4167A= (p.Pro1389=) n.4351A= | |
9 | g.132327432G>A | CA375327114 | SETX | c.4166C>T (p.Pro1389Leu) n.4350C>T | dbSNP |
9 | g.132327432G>C | CA375327116 | SETX | c.4166C>G (p.Pro1389Arg) n.4350C>G | |
9 | g.132327432G= | CA1882147345 | SETX | c.4166C= (p.Pro1389=) n.4350C= | |
9 | g.132327432G>T | CA375327117 | SETX | c.4166C>A (p.Pro1389Gln) n.4350C>A | |
9 | g.132327433G>A | CA375327118 | SETX | c.4165C>T (p.Pro1389Ser) n.4349C>T | ClinVar dbSNP |
9 | g.132327433G>C | CA375327120 | SETX | c.4165C>G (p.Pro1389Ala) n.4349C>G | |
9 | g.132327433G= | CA1882147346 | SETX | c.4165C= (p.Pro1389=) n.4349C= | |
9 | g.132327433G>T | CA375327121 | SETX | c.4165C>A (p.Pro1389Thr) n.4349C>A | |
9 | g.132327434T>A | CA467806906 | SETX | c.4164A>T (p.Val1388=) n.4348A>T | |
9 | g.132327434T>C | CA467806908 | SETX | c.4164A>G (p.Val1388=) n.4348A>G | |
9 | g.132327434T>G | CA467806907 | SETX | c.4164A>C (p.Val1388=) n.4348A>C | |
9 | g.132327435A>C | CA375327123 | SETX | c.4163T>G (p.Val1388Gly) n.4347T>G | |
9 | g.132327435A>G | CA375327125 | SETX | c.4163T>C (p.Val1388Ala) n.4347T>C | ClinVar gnomAD v4 |
9 | g.132327435A>T | CA375327126 | SETX | c.4163T>A (p.Val1388Glu) n.4347T>A | |
9 | g.132327436C>A | CA375327130 | SETX | c.4162G>T (p.Val1388Leu) n.4346G>T | |
9 | g.132327436C= | CA1882147347 | SETX | c.4162G= (p.Val1388=) n.4346G= | |
9 | g.132327436C>G | CA375327132 | SETX | c.4162G>C (p.Val1388Leu) n.4346G>C | |
9 | g.132327436C>T | CA375327129 | SETX | c.4162G>A (p.Val1388Ile) n.4346G>A | dbSNP gnomAD v4 COSMIC COSMIC |
9 | g.132327437A>C | CA375327134 | SETX | c.4161T>G (p.Phe1387Leu) n.4345T>G | |
9 | g.132327437A>G | CA467806910 | SETX | c.4161T>C (p.Phe1387=) n.4345T>C | |
9 | g.132327437A>T | CA375327136 | SETX | c.4161T>A (p.Phe1387Leu) n.4345T>A | |
9 | g.132327438A>C | CA375327137 | SETX | c.4160T>G (p.Phe1387Cys) n.4344T>G | |
9 | g.132327438A>G | CA375327138 | SETX | c.4160T>C (p.Phe1387Ser) n.4344T>C | |
9 | g.132327438A>T | CA375327139 | SETX | c.4160T>A (p.Phe1387Tyr) n.4344T>A | |
9 | g.132327439A= | CA1882147348 | SETX | c.4159T= (p.Phe1387=) n.4343T= | |
9 | g.132327439A>C | CA375327141 | SETX | c.4159T>G (p.Phe1387Val) n.4343T>G | |
9 | g.132327439A>G | CA375327143 | SETX | c.4159T>C (p.Phe1387Leu) n.4343T>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132327439A>T | CA375327144 | SETX | c.4159T>A (p.Phe1387Ile) n.4343T>A | |
9 | g.132327440T>A | CA467806911 | SETX | c.4158A>T (p.Ile1386=) n.4342A>T | |
9 | g.132327440T>C | CA375327145 | SETX | c.4158A>G (p.Ile1386Met) n.4342A>G | |
9 | g.132327440T>G | CA467806912 | SETX | c.4158A>C (p.Ile1386=) n.4342A>C | |
9 | g.132327441A>C | CA375327146 | SETX | c.4157T>G (p.Ile1386Arg) n.4341T>G | |
9 | g.132327441A>G | CA375327147 | SETX | c.4157T>C (p.Ile1386Thr) n.4341T>C | gnomAD v4 |
9 | g.132327441A>T | CA375327149 | SETX | c.4157T>A (p.Ile1386Lys) n.4341T>A | |
9 | g.132327442T>A | CA375327151 | SETX | c.4156A>T (p.Ile1386Leu) n.4340A>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132327442T>C | CA148719 | SETX | c.4156A>G (p.Ile1386Val) n.4340A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.132327442T>G | CA375327154 | SETX | c.4156A>C (p.Ile1386Leu) n.4340A>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132327442T= | CA1882147349 | SETX | c.4156A= (p.Ile1386=) n.4340A= | |
9 | g.132327442_132327443insCAGAATTCTGACGTATTTGTACCAGAATCTGATAG | CA2692256384 | SETX | c.4155_4156insCTATCAGATTCTGGTACAAATACGTCAGAATTCTG (p.Ile1386LeufsTer12) n.4339_4340insCTATCAGATTCTGGTACAAATACGTCAGAATTCTG | gnomAD v4 |
9 | g.132327443G>A | CA5297260 | SETX | c.4155C>T (p.Asp1385=) n.4339C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.132327443G>C | CA375327158 | SETX | c.4155C>G (p.Asp1385Glu) n.4339C>G | |
9 | g.132327443G= | CA1882147350 | SETX | c.4155C= (p.Asp1385=) n.4339C= | |
9 | g.132327443G>T | CA375327156 | SETX | c.4155C>A (p.Asp1385Glu) n.4339C>A | |
9 | g.132327444T>A | CA375327161 | SETX | c.4154A>T (p.Asp1385Val) n.4338A>T | |
9 | g.132327444T>C | CA375327162 | SETX | c.4154A>G (p.Asp1385Gly) n.4338A>G | |
9 | g.132327444T>G | CA375327164 | SETX | c.4154A>C (p.Asp1385Ala) n.4338A>C | |
9 | g.132327445C>A | CA375327166 | SETX | c.4153G>T (p.Asp1385Tyr) n.4337G>T | |
9 | g.132327445C>G | CA375327167 | SETX | c.4153G>C (p.Asp1385His) n.4337G>C | |
9 | g.132327445C>T | CA375327169 | SETX | c.4153G>A (p.Asp1385Asn) n.4337G>A |