| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.81535246T>A | CA353686092 | GBE1 | c.1883A>T (p.His628Leu) n.284A>T c.1760A>T (p.His587Leu) | |
| 3 | g.81535246T>C | CA115760 | GBE1 | c.1883A>G (p.His628Arg) n.284A>G c.1760A>G (p.His587Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535246T>G | CA353686093 | GBE1 | c.1883A>C (p.His628Pro) n.284A>C c.1760A>C (p.His587Pro) | |
| 3 | g.81535246T= | CA1378679231 | GBE1 | c.1883A= (p.His628=) n.284A= c.1760A= (p.His587=) | |
| 3 | g.81535247G>A | CA353686094 | GBE1 | c.1882C>T (p.His628Tyr) n.283C>T c.1759C>T (p.His587Tyr) | gnomAD v4 |
| 3 | g.81535247G>C | CA353686095 | GBE1 | c.1882C>G (p.His628Asp) n.283C>G c.1759C>G (p.His587Asp) | |
| 3 | g.81535247G>T | CA353686096 | GBE1 | c.1882C>A (p.His628Asn) n.283C>A c.1759C>A (p.His587Asn) | |
| 3 | g.81535248G>A | CA434494235 | GBE1 | c.1881C>T (p.Phe627=) n.282C>T c.1758C>T (p.Phe586=) | |
| 3 | g.81535248G>C | CA353686097 | GBE1 | c.1881C>G (p.Phe627Leu) n.282C>G c.1758C>G (p.Phe586Leu) | |
| 3 | g.81535248G>T | CA353686098 | GBE1 | c.1881C>A (p.Phe627Leu) n.282C>A c.1758C>A (p.Phe586Leu) | |
| 3 | g.81535249A>C | CA353686099 | GBE1 | c.1880T>G (p.Phe627Cys) n.281T>G c.1757T>G (p.Phe586Cys) | |
| 3 | g.81535249A>G | CA353686100 | GBE1 | c.1880T>C (p.Phe627Ser) n.281T>C c.1757T>C (p.Phe586Ser) | |
| 3 | g.81535249A>T | CA353686101 | GBE1 | c.1880T>A (p.Phe627Tyr) n.281T>A c.1757T>A (p.Phe586Tyr) | |
| 3 | g.81535250A>C | CA353686104 | GBE1 | c.1879T>G (p.Phe627Val) n.280T>G c.1756T>G (p.Phe586Val) | |
| 3 | g.81535250A>G | CA353686103 | GBE1 | c.1879T>C (p.Phe627Leu) n.280T>C c.1756T>C (p.Phe586Leu) | |
| 3 | g.81535250A>T | CA353686102 | GBE1 | c.1879T>A (p.Phe627Ile) n.280T>A c.1756T>A (p.Phe586Ile) | |
| 3 | g.81535251G>A | CA434494236 | GBE1 | c.1878C>T (p.Asn626=) n.279C>T c.1755C>T (p.Asn585=) | ClinVar |
| 3 | g.81535251G>C | CA353686105 | GBE1 | c.1878C>G (p.Asn626Lys) n.279C>G c.1755C>G (p.Asn585Lys) | |
| 3 | g.81535251G>T | CA353686106 | GBE1 | c.1878C>A (p.Asn626Lys) n.279C>A c.1755C>A (p.Asn585Lys) | gnomAD v4 |
| 3 | g.81535252T>A | CA353686107 | GBE1 | c.1877A>T (p.Asn626Ile) n.278A>T c.1754A>T (p.Asn585Ile) | |
| 3 | g.81535252T>C | CA2499534 | GBE1 | c.1877A>G (p.Asn626Ser) n.278A>G c.1754A>G (p.Asn585Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535252T>G | CA353686108 | GBE1 | c.1877A>C (p.Asn626Thr) n.278A>C c.1754A>C (p.Asn585Thr) | |
| 3 | g.81535252T= | CA1378679232 | GBE1 | c.1877A= (p.Asn626=) n.278A= c.1754A= (p.Asn585=) | |
| 3 | g.81535253T>A | CA353686109 | GBE1 | c.1876A>T (p.Asn626Tyr) n.277A>T c.1753A>T (p.Asn585Tyr) | |
| 3 | g.81535253T>C | CA353686110 | GBE1 | c.1876A>G (p.Asn626Asp) n.277A>G c.1753A>G (p.Asn585Asp) | |
| 3 | g.81535253T>G | CA353686111 | GBE1 | c.1876A>C (p.Asn626His) n.277A>C c.1753A>C (p.Asn585His) | dbSNP |
| 3 | g.81535253T= | CA1378679233 | GBE1 | c.1876A= (p.Asn626=) n.277A= c.1753A= (p.Asn585=) | |
| 3 | g.81535254G>A | CA434494239 | GBE1 | c.1875C>T (p.Phe625=) n.276C>T c.1752C>T (p.Phe584=) | |
| 3 | g.81535254G>C | CA353686112 | GBE1 | c.1875C>G (p.Phe625Leu) n.276C>G c.1752C>G (p.Phe584Leu) | |
| 3 | g.81535254G>T | CA353686113 | GBE1 | c.1875C>A (p.Phe625Leu) n.276C>A c.1752C>A (p.Phe584Leu) | |
| 3 | g.81535255A= | CA1378679234 | GBE1 | c.1874T= (p.Phe625=) n.275T= c.1751T= (p.Phe584=) | |
| 3 | g.81535255A>C | CA2499535 | GBE1 | c.1874T>G (p.Phe625Cys) n.275T>G c.1751T>G (p.Phe584Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535255A>G | CA353686114 | GBE1 | c.1874T>C (p.Phe625Ser) n.275T>C c.1751T>C (p.Phe584Ser) | |
| 3 | g.81535255A>T | CA353686115 | GBE1 | c.1874T>A (p.Phe625Tyr) n.275T>A c.1751T>A (p.Phe584Tyr) | |
| 3 | g.81535256A>C | CA353686116 | GBE1 | c.1873T>G (p.Phe625Val) n.274T>G c.1750T>G (p.Phe584Val) | |
| 3 | g.81535256A>G | CA353686118 | GBE1 | c.1873T>C (p.Phe625Leu) n.274T>C c.1750T>C (p.Phe584Leu) | |
| 3 | g.81535256A>T | CA353686117 | GBE1 | c.1873T>A (p.Phe625Ile) n.274T>A c.1750T>A (p.Phe584Ile) | |
| 3 | g.81535257A>C | CA353686119 | GBE1 | c.1872T>G (p.Ile624Met) n.273T>G c.1749T>G (p.Ile583Met) | |
| 3 | g.81535257A>G | CA434494240 | GBE1 | c.1872T>C (p.Ile624=) n.273T>C c.1749T>C (p.Ile583=) | |
| 3 | g.81535257A>T | CA434494241 | GBE1 | c.1872T>A (p.Ile624=) n.273T>A c.1749T>A (p.Ile583=) | |
| 3 | g.81535258A>C | CA353686121 | GBE1 | c.1871T>G (p.Ile624Ser) n.272T>G c.1748T>G (p.Ile583Ser) | |
| 3 | g.81535258A>G | CA353686120 | GBE1 | c.1871T>C (p.Ile624Thr) n.272T>C c.1748T>C (p.Ile583Thr) | |
| 3 | g.81535258A>T | CA353686122 | GBE1 | c.1871T>A (p.Ile624Asn) n.272T>A c.1748T>A (p.Ile583Asn) | |
| 3 | g.81535259T>A | CA353686123 | GBE1 | c.1870A>T (p.Ile624Phe) n.271A>T c.1747A>T (p.Ile583Phe) | |
| 3 | g.81535259T>C | CA353686124 | GBE1 | c.1870A>G (p.Ile624Val) n.271A>G c.1747A>G (p.Ile583Val) | dbSNP gnomAD v4 |
| 3 | g.81535259T>G | CA353686125 | GBE1 | c.1870A>C (p.Ile624Leu) n.271A>C c.1747A>C (p.Ile583Leu) | |
| 3 | g.81535259T= | CA1378679235 | GBE1 | c.1870A= (p.Ile624=) n.271A= c.1747A= (p.Ile583=) | |
| 3 | g.81535260G>A | CA434494242 | GBE1 | c.1869C>T (p.Phe623=) n.270C>T c.1746C>T (p.Phe582=) | |
| 3 | g.81535260G>C | CA353686126 | GBE1 | c.1869C>G (p.Phe623Leu) n.270C>G c.1746C>G (p.Phe582Leu) | |
| 3 | g.81535260G>T | CA353686127 | GBE1 | c.1869C>A (p.Phe623Leu) n.270C>A c.1746C>A (p.Phe582Leu) |