| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.81646394_81649923del | CA2580101946 | GBE1 | c.433_782+3del c.310_659+3del | ClinVar |
| 3 | g.81646466C>A | CA353688164 | GBE1 | c.708G>T (p.Gln236His) c.585G>T (p.Gln195His) n.258G>T | gnomAD v4 |
| 3 | g.81646466C= | CA1378729123 | GBE1 | c.708G= (p.Gln236=) c.585G= (p.Gln195=) n.258G= | |
| 3 | g.81646466C>G | CA115762 | GBE1 | c.708G>C (p.Gln236His) c.585G>C (p.Gln195His) n.258G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81646466C>T | CA434493979 | GBE1 | c.708G>A (p.Gln236=) c.585G>A (p.Gln195=) n.258G>A | ClinVar |
| 3 | g.81646467T>A | CA353688165 | GBE1 | c.707A>T (p.Gln236Leu) c.584A>T (p.Gln195Leu) n.257A>T | |
| 3 | g.81646467T>C | CA353688166 | GBE1 | c.707A>G (p.Gln236Arg) c.584A>G (p.Gln195Arg) n.257A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81646467T>G | CA353688167 | GBE1 | c.707A>C (p.Gln236Pro) c.584A>C (p.Gln195Pro) n.257A>C | |
| 3 | g.81646467T= | CA1378729124 | GBE1 | c.707A= (p.Gln236=) c.584A= (p.Gln195=) n.257A= | |
| 3 | g.81646468G>A | CA2499876 | GBE1 | c.706C>T (p.Gln236Ter) c.583C>T (p.Gln195Ter) n.256C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81646468G>C | CA353688168 | GBE1 | c.706C>G (p.Gln236Glu) c.583C>G (p.Gln195Glu) n.256C>G | |
| 3 | g.81646468G= | CA1378729125 | GBE1 | c.706C= (p.Gln236=) c.583C= (p.Gln195=) n.256C= | |
| 3 | g.81646468G>T | CA353688169 | GBE1 | c.706C>A (p.Gln236Lys) c.583C>A (p.Gln195Lys) n.256C>A | gnomAD v4 |
| 3 | g.81646469A>C | CA353688170 | GBE1 | c.705T>G (p.Ile235Met) c.582T>G (p.Ile194Met) n.255T>G | gnomAD v4 |
| 3 | g.81646469A>G | CA434493980 | GBE1 | c.705T>C (p.Ile235=) c.582T>C (p.Ile194=) n.255T>C | |
| 3 | g.81646469A>T | CA434493981 | GBE1 | c.705T>A (p.Ile235=) c.582T>A (p.Ile194=) n.255T>A | |
| 3 | g.81646470A>C | CA353688173 | GBE1 | c.704T>G (p.Ile235Ser) c.581T>G (p.Ile194Ser) n.254T>G | |
| 3 | g.81646470A>G | CA353688172 | GBE1 | c.704T>C (p.Ile235Thr) c.581T>C (p.Ile194Thr) n.254T>C | |
| 3 | g.81646470A>T | CA353688171 | GBE1 | c.704T>A (p.Ile235Asn) c.581T>A (p.Ile194Asn) n.254T>A | |
| 3 | g.81646471T>A | CA353688174 | GBE1 | c.703A>T (p.Ile235Phe) c.580A>T (p.Ile194Phe) n.253A>T | |
| 3 | g.81646471T>C | CA353688175 | GBE1 | c.703A>G (p.Ile235Val) c.580A>G (p.Ile194Val) n.253A>G | dbSNP |
| 3 | g.81646471T>G | CA353688176 | GBE1 | c.703A>C (p.Ile235Leu) c.580A>C (p.Ile194Leu) n.253A>C | |
| 3 | g.81646471T= | CA1378729126 | GBE1 | c.703A= (p.Ile235=) c.580A= (p.Ile194=) n.253A= | |
| 3 | g.81646472G>A | CA434493983 | GBE1 | c.702C>T (p.Cys234=) c.579C>T (p.Cys193=) n.252C>T | gnomAD v4 |
| 3 | g.81646472G>C | CA353688177 | GBE1 | c.702C>G (p.Cys234Trp) c.579C>G (p.Cys193Trp) n.252C>G | |
| 3 | g.81646472G>T | CA353688178 | GBE1 | c.702C>A (p.Cys234Ter) c.579C>A (p.Cys193Ter) n.252C>A | gnomAD v4 |
| 3 | g.81646473C>A | CA353688179 | GBE1 | c.701G>T (p.Cys234Phe) c.578G>T (p.Cys193Phe) n.251G>T | |
| 3 | g.81646473C= | CA1378729127 | GBE1 | c.701G= (p.Cys234=) c.578G= (p.Cys193=) n.251G= | |
| 3 | g.81646473C>G | CA353688180 | GBE1 | c.701G>C (p.Cys234Ser) c.578G>C (p.Cys193Ser) n.251G>C | |
| 3 | g.81646473C>T | CA2499877 | GBE1 | c.701G>A (p.Cys234Tyr) c.578G>A (p.Cys193Tyr) n.251G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81646474A>C | CA353688181 | GBE1 | c.700T>G (p.Cys234Gly) c.577T>G (p.Cys193Gly) n.250T>G | |
| 3 | g.81646474A>G | CA353688182 | GBE1 | c.700T>C (p.Cys234Arg) c.577T>C (p.Cys193Arg) n.250T>C | gnomAD v4 |
| 3 | g.81646474A>T | CA353688183 | GBE1 | c.700T>A (p.Cys234Ser) c.577T>A (p.Cys193Ser) n.250T>A | |
| 3 | g.81646475G>A | CA434493984 | GBE1 | c.699C>T (p.Asn233=) c.576C>T (p.Asn192=) n.249C>T | gnomAD v4 |
| 3 | g.81646475G>C | CA353688184 | GBE1 | c.699C>G (p.Asn233Lys) c.576C>G (p.Asn192Lys) n.249C>G | |
| 3 | g.81646475G>T | CA353688185 | GBE1 | c.699C>A (p.Asn233Lys) c.576C>A (p.Asn192Lys) n.249C>A | gnomAD v4 |
| 3 | g.81646476_81646492del | CA2666623890 | GBE1 | c.692-9_699del c.569-9_576del n.233_249del | gnomAD v4 |
| 3 | g.81646476T>A | CA353688187 | GBE1 | c.698A>T (p.Asn233Ile) c.575A>T (p.Asn192Ile) n.248A>T | |
| 3 | g.81646476T>C | CA78292185 | GBE1 | c.698A>G (p.Asn233Ser) c.575A>G (p.Asn192Ser) n.248A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81646476T>G | CA353688186 | GBE1 | c.698A>C (p.Asn233Thr) c.575A>C (p.Asn192Thr) n.248A>C | gnomAD v4 |
| 3 | g.81646476T= | CA1378729128 | GBE1 | c.698A= (p.Asn233=) c.575A= (p.Asn192=) n.248A= | |
| 3 | g.81646477T>A | CA353688188 | GBE1 | c.697A>T (p.Asn233Tyr) c.574A>T (p.Asn192Tyr) n.247A>T | |
| 3 | g.81646477T>C | CA353688189 | GBE1 | c.697A>G (p.Asn233Asp) c.574A>G (p.Asn192Asp) n.247A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81646477T>G | CA353688190 | GBE1 | c.697A>C (p.Asn233His) c.574A>C (p.Asn192His) n.247A>C | |
| 3 | g.81646477T= | CA1378729129 | GBE1 | c.697A= (p.Asn233=) c.574A= (p.Asn192=) n.247A= | |
| 3 | g.81646478G>A | CA2499878 | GBE1 | c.696C>T (p.Tyr232=) c.573C>T (p.Tyr191=) n.246C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81646478G>C | CA353688191 | GBE1 | c.696C>G (p.Tyr232Ter) c.573C>G (p.Tyr191Ter) n.246C>G | |
| 3 | g.81646478G= | CA1378729130 | GBE1 | c.696C= (p.Tyr232=) c.573C= (p.Tyr191=) n.246C= | |
| 3 | g.81646478G>T | CA353688192 | GBE1 | c.696C>A (p.Tyr232Ter) c.573C>A (p.Tyr191Ter) n.246C>A | dbSNP gnomAD v4 |
| 3 | g.81646479del | CA2666623891 | GBE1 | c.695del (p.Tyr232SerfsTer6) c.572del (p.Tyr191SerfsTer6) n.245del | gnomAD v4 |