Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.81646394_81649923del | CA2580101946 | GBE1 | c.433_782+3del c.310_659+3del | ClinVar |
3 | g.81646393del | CA2577825871 | GBE1 | c.781del (p.Ser261AlafsTer13) c.658del (p.Ser220AlafsTer13) n.331del | |
3 | g.81646393T>A | CA353687994 | GBE1 | c.781A>T (p.Ser261Cys) c.658A>T (p.Ser220Cys) n.331A>T | |
3 | g.81646393T>C | CA353687995 | GBE1 | c.781A>G (p.Ser261Gly) c.658A>G (p.Ser220Gly) n.331A>G | gnomAD v4 |
3 | g.81646393T>G | CA353687996 | GBE1 | c.781A>C (p.Ser261Arg) c.658A>C (p.Ser220Arg) n.331A>C | dbSNP |
3 | g.81646393T= | CA1378729095 | GBE1 | c.781A= (p.Ser261=) c.658A= (p.Ser220=) n.331A= | |
3 | g.81646394G>A | CA434493938 | GBE1 | c.780C>T (p.Ser260=) c.657C>T (p.Ser219=) n.330C>T | gnomAD v4 |
3 | g.81646394G>C | CA434493939 | GBE1 | c.780C>G (p.Ser260=) c.657C>G (p.Ser219=) n.330C>G | |
3 | g.81646394G>T | CA434493940 | GBE1 | c.780C>A (p.Ser260=) c.657C>A (p.Ser219=) n.330C>A | |
3 | g.81646395G>A | CA353687997 | GBE1 | c.779C>T (p.Ser260Phe) c.656C>T (p.Ser219Phe) n.329C>T | dbSNP |
3 | g.81646395G>C | CA2499870 | GBE1 | c.779C>G (p.Ser260Cys) c.656C>G (p.Ser219Cys) n.329C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646395G= | CA1378729096 | GBE1 | c.779C= (p.Ser260=) c.656C= (p.Ser219=) n.329C= | |
3 | g.81646395G>T | CA353687998 | GBE1 | c.779C>A (p.Ser260Tyr) c.656C>A (p.Ser219Tyr) n.329C>A | |
3 | g.81646396A>C | CA353687999 | GBE1 | c.778T>G (p.Ser260Ala) c.655T>G (p.Ser219Ala) n.328T>G | |
3 | g.81646396A>G | CA353688000 | GBE1 | c.778T>C (p.Ser260Pro) c.655T>C (p.Ser219Pro) n.328T>C | gnomAD v4 |
3 | g.81646396A>T | CA353688001 | GBE1 | c.778T>A (p.Ser260Thr) c.655T>A (p.Ser219Thr) n.328T>A | |
3 | g.81646397A>C | CA434493941 | GBE1 | c.777T>G (p.Ala259=) c.654T>G (p.Ala218=) n.327T>G | |
3 | g.81646397A>G | CA434493943 | GBE1 | c.777T>C (p.Ala259=) c.654T>C (p.Ala218=) n.327T>C | gnomAD v4 |
3 | g.81646397A>T | CA434493942 | GBE1 | c.777T>A (p.Ala259=) c.654T>A (p.Ala218=) n.327T>A | |
3 | g.81646398G>A | CA353688003 | GBE1 | c.776C>T (p.Ala259Val) c.653C>T (p.Ala218Val) n.326C>T | |
3 | g.81646398G>C | CA353688004 | GBE1 | c.776C>G (p.Ala259Gly) c.653C>G (p.Ala218Gly) n.326C>G | ClinVar dbSNP |
3 | g.81646398G= | CA1378729097 | GBE1 | c.776C= (p.Ala259=) c.653C= (p.Ala218=) n.326C= | |
3 | g.81646398G>T | CA353688002 | GBE1 | c.776C>A (p.Ala259Asp) c.653C>A (p.Ala218Asp) n.326C>A | gnomAD v4 |
3 | g.81646399C>A | CA353688005 | GBE1 | c.775G>T (p.Ala259Ser) c.652G>T (p.Ala218Ser) n.325G>T | dbSNP |
3 | g.81646399C= | CA1378729098 | GBE1 | c.775G= (p.Ala259=) c.652G= (p.Ala218=) n.325G= | |
3 | g.81646399C>G | CA353688006 | GBE1 | c.775G>C (p.Ala259Pro) c.652G>C (p.Ala218Pro) n.325G>C | |
3 | g.81646399C>T | CA2499871 | GBE1 | c.775G>A (p.Ala259Thr) c.652G>A (p.Ala218Thr) n.325G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.81646400T>A | CA434493944 | GBE1 | c.774A>T (p.Ala258=) c.651A>T (p.Ala217=) n.324A>T | |
3 | g.81646400T>C | CA434493945 | GBE1 | c.774A>G (p.Ala258=) c.651A>G (p.Ala217=) n.324A>G | |
3 | g.81646400T>G | CA434493946 | GBE1 | c.774A>C (p.Ala258=) c.651A>C (p.Ala217=) n.324A>C | ClinVar dbSNP |
3 | g.81646400T= | CA1378729099 | GBE1 | c.774A= (p.Ala258=) c.651A= (p.Ala217=) n.324A= | |
3 | g.81646401G>A | CA353688007 | GBE1 | c.773C>T (p.Ala258Val) c.650C>T (p.Ala217Val) n.323C>T | dbSNP gnomAD v4 |
3 | g.81646401G>C | CA353688008 | GBE1 | c.773C>G (p.Ala258Gly) c.650C>G (p.Ala217Gly) n.323C>G | |
3 | g.81646401G= | CA1378729100 | GBE1 | c.773C= (p.Ala258=) c.650C= (p.Ala217=) n.323C= | |
3 | g.81646401G>T | CA353688009 | GBE1 | c.773C>A (p.Ala258Glu) c.650C>A (p.Ala217Glu) n.323C>A | gnomAD v4 |
3 | g.81646402C>A | CA353688012 | GBE1 | c.772G>T (p.Ala258Ser) c.649G>T (p.Ala217Ser) n.322G>T | |
3 | g.81646402C>G | CA353688010 | GBE1 | c.772G>C (p.Ala258Pro) c.649G>C (p.Ala217Pro) n.322G>C | |
3 | g.81646402C>T | CA353688011 | GBE1 | c.772G>A (p.Ala258Thr) c.649G>A (p.Ala217Thr) n.322G>A | |
3 | g.81646403A= | CA1378729101 | GBE1 | c.771T= (p.Phe257=) c.648T= (p.Phe216=) n.321T= | |
3 | g.81646403A>C | CA353688013 | GBE1 | c.771T>G (p.Phe257Leu) c.648T>G (p.Phe216Leu) n.321T>G | |
3 | g.81646403A>G | CA434493947 | GBE1 | c.771T>C (p.Phe257=) c.648T>C (p.Phe216=) n.321T>C | |
3 | g.81646403A>T | CA115749 | GBE1 | c.771T>A (p.Phe257Leu) c.648T>A (p.Phe216Leu) n.321T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81646404A= | CA1378729102 | GBE1 | c.770T= (p.Phe257=) c.647T= (p.Phe216=) n.320T= | |
3 | g.81646404A>C | CA353688014 | GBE1 | c.770T>G (p.Phe257Cys) c.647T>G (p.Phe216Cys) n.320T>G | |
3 | g.81646404A>G | CA353688015 | GBE1 | c.770T>C (p.Phe257Ser) c.647T>C (p.Phe216Ser) n.320T>C | ClinVar dbSNP |
3 | g.81646404A>T | CA353688016 | GBE1 | c.770T>A (p.Phe257Tyr) c.647T>A (p.Phe216Tyr) n.320T>A | |
3 | g.81646405A>C | CA353688019 | GBE1 | c.769T>G (p.Phe257Val) c.646T>G (p.Phe216Val) n.319T>G | |
3 | g.81646405A>G | CA353688018 | GBE1 | c.769T>C (p.Phe257Leu) c.646T>C (p.Phe216Leu) n.319T>C | |
3 | g.81646405A>T | CA353688017 | GBE1 | c.769T>A (p.Phe257Ile) c.646T>A (p.Phe216Ile) n.319T>A | |
3 | g.81646406G>A | CA434493948 | GBE1 | c.768C>T (p.Phe256=) c.645C>T (p.Phe215=) n.318C>T | ClinVar dbSNP |