| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.81646394_81649923del | CA2580101946 | GBE1 | c.433_782+3del c.310_659+3del | ClinVar |
| 3 | g.81648854A= | CA1378730168 | GBE1 | c.691+2T= (n.691+2T=) c.568+2T= (n.568+2T=) n.219+2T= | |
| 3 | g.81648854A>C | CA353688208 | GBE1 | c.691+2T>G (n.691+2T>G) c.568+2T>G (n.568+2T>G) n.219+2T>G | |
| 3 | g.81648854A>G | CA276004 | GBE1 | c.691+2T>C (n.691+2T>C) c.568+2T>C (n.568+2T>C) n.219+2T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81648854A>T | CA353688209 | GBE1 | c.691+2T>A (n.691+2T>A) c.568+2T>A (n.568+2T>A) n.219+2T>A | |
| 3 | g.81648855C>A | CA353688210 | GBE1 | c.691+1G>T (n.691+1G>T) c.568+1G>T (n.568+1G>T) n.219+1G>T | ClinVar gnomAD v4 |
| 3 | g.81648855C>G | CA353688211 | GBE1 | c.691+1G>C (n.691+1G>C) c.568+1G>C (n.568+1G>C) n.219+1G>C | |
| 3 | g.81648855C>T | CA353688212 | GBE1 | c.691+1G>A (n.691+1G>A) c.568+1G>A (n.568+1G>A) n.219+1G>A | ClinVar gnomAD v4 COSMIC COSMIC |
| 3 | g.81648856del | CA2666624129 | GBE1 | c.691+1del c.568+1del n.219+1del | gnomAD v4 |
| 3 | g.81648856C>A | CA353688213 | GBE1 | c.691G>T (p.Gly231Ter) c.568G>T (p.Gly190Ter) n.219G>T | gnomAD v4 |
| 3 | g.81648856C= | CA1378730169 | GBE1 | c.691G= (p.Gly231=) c.568G= (p.Gly190=) n.219G= | |
| 3 | g.81648856C>G | CA353688214 | GBE1 | c.691G>C (p.Gly231Arg) c.568G>C (p.Gly190Arg) n.219G>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81648856C>T | CA353688215 | GBE1 | c.691G>A (p.Gly231Arg) c.568G>A (p.Gly190Arg) n.219G>A | gnomAD v4 |
| 3 | g.81648857A>C | CA434493993 | GBE1 | c.690T>G (p.Leu230=) c.567T>G (p.Leu189=) n.218T>G | gnomAD v4 |
| 3 | g.81648857A>G | CA434493994 | GBE1 | c.690T>C (p.Leu230=) c.567T>C (p.Leu189=) n.218T>C | |
| 3 | g.81648857A>T | CA434493995 | GBE1 | c.690T>A (p.Leu230=) c.567T>A (p.Leu189=) n.218T>A | |
| 3 | g.81648858del | CA2577825895 | GBE1 | c.690del (p.Gly231AspfsTer7) c.567del (p.Gly190AspfsTer7) n.218del | |
| 3 | g.81648858A>C | CA353688218 | GBE1 | c.689T>G (p.Leu230Arg) c.566T>G (p.Leu189Arg) n.217T>G | gnomAD v4 |
| 3 | g.81648858A>G | CA353688216 | GBE1 | c.689T>C (p.Leu230Pro) c.566T>C (p.Leu189Pro) n.217T>C | gnomAD v4 |
| 3 | g.81648858A>T | CA353688217 | GBE1 | c.689T>A (p.Leu230His) c.566T>A (p.Leu189His) n.217T>A | gnomAD v4 |
| 3 | g.81648859G>A | CA353688219 | GBE1 | c.688C>T (p.Leu230Phe) c.565C>T (p.Leu189Phe) n.216C>T | |
| 3 | g.81648859G>C | CA353688220 | GBE1 | c.688C>G (p.Leu230Val) c.565C>G (p.Leu189Val) n.216C>G | |
| 3 | g.81648859G>T | CA353688221 | GBE1 | c.688C>A (p.Leu230Ile) c.565C>A (p.Leu189Ile) n.216C>A | gnomAD v4 |
| 3 | g.81648860G>A | CA434493997 | GBE1 | c.687C>T (p.Gly229=) c.564C>T (p.Gly188=) n.215C>T | gnomAD v4 |
| 3 | g.81648860G>C | CA434493998 | GBE1 | c.687C>G (p.Gly229=) c.564C>G (p.Gly188=) n.215C>G | |
| 3 | g.81648860G>T | CA434493996 | GBE1 | c.687C>A (p.Gly229=) c.564C>A (p.Gly188=) n.215C>A | gnomAD v4 |
| 3 | g.81648861C>A | CA353688222 | GBE1 | c.686G>T (p.Gly229Val) c.563G>T (p.Gly188Val) n.214G>T | gnomAD v4 |
| 3 | g.81648861C= | CA1378730170 | GBE1 | c.686G= (p.Gly229=) c.563G= (p.Gly188=) n.214G= | |
| 3 | g.81648861C>G | CA353688223 | GBE1 | c.686G>C (p.Gly229Ala) c.563G>C (p.Gly188Ala) n.214G>C | |
| 3 | g.81648861C>T | CA2499894 | GBE1 | c.686G>A (p.Gly229Asp) c.563G>A (p.Gly188Asp) n.214G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81648862del | CA2577825896 | GBE1 | c.686del (p.Gly229AlafsTer9) c.563del (p.Gly188AlafsTer9) n.214del | |
| 3 | g.81648862C>A | CA2499895 | GBE1 | c.685G>T (p.Gly229Cys) c.562G>T (p.Gly188Cys) n.213G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81648862C= | CA1378730171 | GBE1 | c.685G= (p.Gly229=) c.562G= (p.Gly188=) n.213G= | |
| 3 | g.81648862C>G | CA353688224 | GBE1 | c.685G>C (p.Gly229Arg) c.562G>C (p.Gly188Arg) n.213G>C | |
| 3 | g.81648862C>T | CA353688225 | GBE1 | c.685G>A (p.Gly229Ser) c.562G>A (p.Gly188Ser) n.213G>A | gnomAD v4 |
| 3 | g.81648863T>A | CA353688226 | GBE1 | c.684A>T (p.Lys228Asn) c.561A>T (p.Lys187Asn) n.212A>T | gnomAD v4 |
| 3 | g.81648863T>C | CA434493999 | GBE1 | c.684A>G (p.Lys228=) c.561A>G (p.Lys187=) n.212A>G | gnomAD v4 |
| 3 | g.81648863T>G | CA353688227 | GBE1 | c.684A>C (p.Lys228Asn) c.561A>C (p.Lys187Asn) n.212A>C | gnomAD v4 |
| 3 | g.81648865del | CA2666624130 | GBE1 | c.684del (p.Gly229AlafsTer9) c.561del (p.Gly188AlafsTer9) n.212del | gnomAD v4 |
| 3 | g.81648864T>A | CA353688228 | GBE1 | c.683A>T (p.Lys228Ile) c.560A>T (p.Lys187Ile) n.211A>T | |
| 3 | g.81648864T>C | CA353688230 | GBE1 | c.683A>G (p.Lys228Arg) c.560A>G (p.Lys187Arg) n.211A>G | |
| 3 | g.81648864T>G | CA353688229 | GBE1 | c.683A>C (p.Lys228Thr) c.560A>C (p.Lys187Thr) n.211A>C | |
| 3 | g.81648866_81648869del | CA2666624131 | GBE1 | c.680_683del (p.Ile227LysfsTer10) c.557_560del (p.Ile186LysfsTer10) n.208_211del | gnomAD v4 |
| 3 | g.81648865T>A | CA353688231 | GBE1 | c.682A>T (p.Lys228Ter) c.559A>T (p.Lys187Ter) n.210A>T | |
| 3 | g.81648865T>C | CA353688233 | GBE1 | c.682A>G (p.Lys228Glu) c.559A>G (p.Lys187Glu) n.210A>G | |
| 3 | g.81648865T>G | CA353688232 | GBE1 | c.682A>C (p.Lys228Gln) c.559A>C (p.Lys187Gln) n.210A>C | |
| 3 | g.81648866G>A | CA434494000 | GBE1 | c.681C>T (p.Ile227=) c.558C>T (p.Ile186=) n.209C>T | |
| 3 | g.81648866G>C | CA353688234 | GBE1 | c.681C>G (p.Ile227Met) c.558C>G (p.Ile186Met) n.209C>G | |
| 3 | g.81648866G= | CA1378730172 | GBE1 | c.681C= (p.Ile227=) c.558C= (p.Ile186=) n.209C= | |
| 3 | g.81648866G>T | CA2499896 | GBE1 | c.681C>A (p.Ile227=) c.558C>A (p.Ile186=) n.209C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |