Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.81646394_81649923del | CA2580101946 | GBE1 | c.433_782+3del c.310_659+3del | ClinVar |
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 |
3 | g.81646479T>A | CA353688193 | GBE1 | c.695A>T (p.Tyr232Phe) c.572A>T (p.Tyr191Phe) n.245A>T | |
3 | g.81646479T>C | CA353688194 | GBE1 | c.695A>G (p.Tyr232Cys) c.572A>G (p.Tyr191Cys) n.245A>G | gnomAD v4 |
3 | g.81646479T>G | CA353688195 | GBE1 | c.695A>C (p.Tyr232Ser) c.572A>C (p.Tyr191Ser) n.245A>C | |
3 | g.81646480A>C | CA353688196 | GBE1 | c.694T>G (p.Tyr232Asp) c.571T>G (p.Tyr191Asp) n.244T>G | |
3 | g.81646480A>G | CA353688197 | GBE1 | c.694T>C (p.Tyr232His) c.571T>C (p.Tyr191His) n.244T>C | |
3 | g.81646480A>T | CA353688198 | GBE1 | c.694T>A (p.Tyr232Asn) c.571T>A (p.Tyr191Asn) n.244T>A | |
3 | g.81646481T>A | CA434493987 | GBE1 | c.693A>T (p.Gly231=) c.570A>T (p.Gly190=) n.243A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.81646481T>C | CA434493988 | GBE1 | c.693A>G (p.Gly231=) c.570A>G (p.Gly190=) n.243A>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
3 | g.81646481T>G | CA434493986 | GBE1 | c.693A>C (p.Gly231=) c.570A>C (p.Gly190=) n.243A>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.81646481T= | CA1378729131 | GBE1 | c.693A= (p.Gly231=) c.570A= (p.Gly190=) n.243A= | |
3 | g.81646482C>A | CA353688199 | GBE1 | c.692G>T (p.Gly231Val) c.569G>T (p.Gly190Val) n.242G>T | gnomAD v4 |
3 | g.81646482C= | CA1378729132 | GBE1 | c.692G= (p.Gly231=) c.569G= (p.Gly190=) n.242G= | |
3 | g.81646482C>G | CA353688201 | GBE1 | c.692G>C (p.Gly231Ala) c.569G>C (p.Gly190Ala) n.242G>C | |
3 | g.81646482C>T | CA353688200 | GBE1 | c.692G>A (p.Gly231Glu) c.569G>A (p.Gly190Glu) n.242G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646483C>A | CA353688202 | GBE1 | c.692-1G>T (n.692-1G>T) c.569-1G>T (n.569-1G>T) n.241G>T | gnomAD v4 |
3 | g.81646483C>G | CA353688204 | GBE1 | c.692-1G>C (n.692-1G>C) c.569-1G>C (n.569-1G>C) n.241G>C | |
3 | g.81646483C>T | CA353688203 | GBE1 | c.692-1G>A (n.692-1G>A) c.569-1G>A (n.569-1G>A) n.241G>A | ClinVar |
3 | g.81646484T>A | CA353688205 | GBE1 | c.692-2A>T (n.692-2A>T) c.569-2A>T (n.569-2A>T) n.240A>T |