UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 3 | g.81535261A>C | CA353686130 | GBE1 | c.1868T>G (p.Phe623Cys) n.269T>G c.1745T>G (p.Phe582Cys) | |
| 3 | g.81535261A>G | CA353686129 | GBE1 | c.1868T>C (p.Phe623Ser) n.269T>C c.1745T>C (p.Phe582Ser) | |
| 3 | g.81535261A>T | CA353686128 | GBE1 | c.1868T>A (p.Phe623Tyr) n.269T>A c.1745T>A (p.Phe582Tyr) | |
| 3 | g.81535264del | CA2577825649 | GBE1 | c.1868del (p.Phe623SerfsTer28) n.269del c.1745del (p.Phe582SerfsTer28) | gnomAD v4 |
| 3 | g.81535262A>C | CA353686131 | GBE1 | c.1867T>G (p.Phe623Val) n.268T>G c.1744T>G (p.Phe582Val) | |
| 3 | g.81535262A>G | CA353686132 | GBE1 | c.1867T>C (p.Phe623Leu) n.268T>C c.1744T>C (p.Phe582Leu) | |
| 3 | g.81535262A>T | CA353686133 | GBE1 | c.1867T>A (p.Phe623Ile) n.268T>A c.1744T>A (p.Phe582Ile) | |
| 3 | g.81535262_81535265delinsAAAG | CA1378679236 | GBE1 | c.1864_1867delinsCTTT (p.Leu622=) n.265_268delinsCTTT c.1741_1744delinsCTTT (p.Leu581=) | |
| 3 | g.81535263A>C | CA434494245 | GBE1 | c.1866T>G (p.Leu622=) n.267T>G c.1743T>G (p.Leu581=) | |
| 3 | g.81535263A>G | CA434494244 | GBE1 | c.1866T>C (p.Leu622=) n.267T>C c.1743T>C (p.Leu581=) | |
| 3 | g.81535263A>T | CA434494243 | GBE1 | c.1866T>A (p.Leu622=) n.267T>A c.1743T>A (p.Leu581=) | |
| 3 | g.81535267_81535269del | CA915941513 | GBE1 | c.1864_1866del (p.Leu622del) n.265_267del c.1741_1743del (p.Leu581del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81535264A= | CA1378679237 | GBE1 | c.1865T= (p.Leu622=) n.266T= c.1742T= (p.Leu581=) | |
| 3 | g.81535264A>C | CA353686134 | GBE1 | c.1865T>G (p.Leu622Arg) n.266T>G c.1742T>G (p.Leu581Arg) | |
| 3 | g.81535264A>G | CA353686135 | GBE1 | c.1865T>C (p.Leu622Pro) n.266T>C c.1742T>C (p.Leu581Pro) | dbSNP gnomAD v4 |
| 3 | g.81535264A>T | CA353686136 | GBE1 | c.1865T>A (p.Leu622His) n.266T>A c.1742T>A (p.Leu581His) | |
| 3 | g.81535265G>A | CA353686139 | GBE1 | c.1864C>T (p.Leu622Phe) n.265C>T c.1741C>T (p.Leu581Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81535265G>C | CA353686137 | GBE1 | c.1864C>G (p.Leu622Val) n.265C>G c.1741C>G (p.Leu581Val) | |
| 3 | g.81535265G= | CA1378679238 | GBE1 | c.1864C= (p.Leu622=) n.265C= c.1741C= (p.Leu581=) | |
| 3 | g.81535265G>T | CA353686138 | GBE1 | c.1864C>A (p.Leu622Ile) n.265C>A c.1741C>A (p.Leu581Ile) | |
| 3 | g.81535266A= | CA1378679239 | GBE1 | c.1863T= (p.Leu621=) n.264T= c.1740T= (p.Leu580=) | |
| 3 | g.81535266A>C | CA434494246 | GBE1 | c.1863T>G (p.Leu621=) n.264T>G c.1740T>G (p.Leu580=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81535266A>G | CA434494247 | GBE1 | c.1863T>C (p.Leu621=) n.264T>C c.1740T>C (p.Leu580=) | |
| 3 | g.81535266A>T | CA434494248 | GBE1 | c.1863T>A (p.Leu621=) n.264T>A c.1740T>A (p.Leu580=) | |
| 3 | g.81535267A>C | CA353686140 | GBE1 | c.1862T>G (p.Leu621Arg) n.263T>G c.1739T>G (p.Leu580Arg) | |
| 3 | g.81535267A>G | CA353686141 | GBE1 | c.1862T>C (p.Leu621Pro) n.263T>C c.1739T>C (p.Leu580Pro) | gnomAD v3 gnomAD v4 |
| 3 | g.81535267A>T | CA353686142 | GBE1 | c.1862T>A (p.Leu621His) n.263T>A c.1739T>A (p.Leu580His) | |
| 3 | g.81535268del | CA2756978691 | GBE1 | c.1861del (p.Leu621PhefsTer30) n.262del c.1738del (p.Leu580PhefsTer30) | |
| 3 | g.81535268G>A | CA353686143 | GBE1 | c.1861C>T (p.Leu621Phe) n.262C>T c.1738C>T (p.Leu580Phe) | |
| 3 | g.81535268G>C | CA353686144 | GBE1 | c.1861C>G (p.Leu621Val) n.262C>G c.1738C>G (p.Leu580Val) | |
| 3 | g.81535268G>T | CA353686145 | GBE1 | c.1861C>A (p.Leu621Ile) n.262C>A c.1738C>A (p.Leu580Ile) | |
| 3 | g.81535269A= | CA1378679240 | GBE1 | c.1860T= (p.Gly620=) n.261T= c.1737T= (p.Gly579=) | |
| 3 | g.81535269A>C | CA434494250 | GBE1 | c.1860T>G (p.Gly620=) n.261T>G c.1737T>G (p.Gly579=) | |
| 3 | g.81535269A>G | CA434494251 | GBE1 | c.1860T>C (p.Gly620=) n.261T>C c.1737T>C (p.Gly579=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535269A>T | CA434494252 | GBE1 | c.1860T>A (p.Gly620=) n.261T>A c.1737T>A (p.Gly579=) | |
| 3 | g.81535270C>A | CA353686146 | GBE1 | c.1859G>T (p.Gly620Val) n.260G>T c.1736G>T (p.Gly579Val) | |
| 3 | g.81535270C>G | CA353686147 | GBE1 | c.1859G>C (p.Gly620Ala) n.260G>C c.1736G>C (p.Gly579Ala) | |
| 3 | g.81535270C>T | CA353686148 | GBE1 | c.1859G>A (p.Gly620Asp) n.260G>A c.1736G>A (p.Gly579Asp) | |
| 3 | g.81535271del | CA2577825655 | GBE1 | c.1859del (p.Gly620ValfsTer?) n.260del c.1736del (p.Gly579ValfsTer?) | |
| 3 | g.81535271C>A | CA353686149 | GBE1 | c.1858G>T (p.Gly620Cys) n.259G>T c.1735G>T (p.Gly579Cys) | |
| 3 | g.81535271C>G | CA353686150 | GBE1 | c.1858G>C (p.Gly620Arg) n.259G>C c.1735G>C (p.Gly579Arg) | |
| 3 | g.81535271C>T | CA353686151 | GBE1 | c.1858G>A (p.Gly620Ser) n.259G>A c.1735G>A (p.Gly579Ser) | |
| 3 | g.81535272T>A | CA434494254 | GBE1 | c.1857A>T (p.Ala619=) n.258A>T c.1734A>T (p.Ala578=) | |
| 3 | g.81535272T>C | CA434494255 | GBE1 | c.1857A>G (p.Ala619=) n.258A>G c.1734A>G (p.Ala578=) | |
| 3 | g.81535272T>G | CA434494256 | GBE1 | c.1857A>C (p.Ala619=) n.258A>C c.1734A>C (p.Ala578=) | |
| 3 | g.81535273G>A | CA353686152 | GBE1 | c.1856C>T (p.Ala619Val) n.257C>T c.1733C>T (p.Ala578Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81535273G>C | CA78280195 | GBE1 | c.1856C>G (p.Ala619Gly) n.257C>G c.1733C>G (p.Ala578Gly) | dbSNP gnomAD v4 |
| 3 | g.81535273G= | CA1378679241 | GBE1 | c.1856C= (p.Ala619=) n.257C= c.1733C= (p.Ala578=) | |
| 3 | g.81535273G>T | CA353686153 | GBE1 | c.1856C>A (p.Ala619Glu) n.257C>A c.1733C>A (p.Ala578Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81535274C>A | CA353686154 | GBE1 | c.1855G>T (p.Ala619Ser) n.256G>T c.1732G>T (p.Ala578Ser) | |
| 3 | g.81535274C>G | CA353686155 | GBE1 | c.1855G>C (p.Ala619Pro) n.256G>C c.1732G>C (p.Ala578Pro) | |
| 3 | g.81535274C>T | CA353686156 | GBE1 | c.1855G>A (p.Ala619Thr) n.256G>A c.1732G>A (p.Ala578Thr) | gnomAD v4 |
| 3 | g.81535275del | CA2580070452 | GBE1 | c.1854del (p.Ala619GlnfsTer?) n.255del c.1731del (p.Ala578GlnfsTer?) | ClinVar |
| 3 | g.81535275T>A | CA353686157 | GBE1 | c.1854A>T (p.Arg618Ser) n.255A>T c.1731A>T (p.Arg577Ser) | |
| 3 | g.81535275T>C | CA434494259 | GBE1 | c.1854A>G (p.Arg618=) n.255A>G c.1731A>G (p.Arg577=) | gnomAD v4 |
| 3 | g.81535275T>G | CA353686158 | GBE1 | c.1854A>C (p.Arg618Ser) n.255A>C c.1731A>C (p.Arg577Ser) | |
| 3 | g.81535276C>A | CA353686159 | GBE1 | c.1853G>T (p.Arg618Ile) n.254G>T c.1730G>T (p.Arg577Ile) | |
| 3 | g.81535276C>G | CA353686160 | GBE1 | c.1853G>C (p.Arg618Thr) n.254G>C c.1730G>C (p.Arg577Thr) | |
| 3 | g.81535276C>T | CA353686161 | GBE1 | c.1853G>A (p.Arg618Lys) n.254G>A c.1730G>A (p.Arg577Lys) | |
| 3 | g.81535277T>A | CA353686162 | GBE1 | c.1852A>T (p.Arg618Ter) n.253A>T c.1729A>T (p.Arg577Ter) | |
| 3 | g.81535277T>C | CA353686163 | GBE1 | c.1852A>G (p.Arg618Gly) n.253A>G c.1729A>G (p.Arg577Gly) | gnomAD v4 |
| 3 | g.81535277T>G | CA434494269 | GBE1 | c.1852A>C (p.Arg618=) n.253A>C c.1729A>C (p.Arg577=) | |
| 3 | g.81535278T>A | CA353686164 | GBE1 | c.1851A>T (p.Glu617Asp) n.252A>T c.1728A>T (p.Glu576Asp) | |
| 3 | g.81535278T>C | CA434494274 | GBE1 | c.1851A>G (p.Glu617=) n.252A>G c.1728A>G (p.Glu576=) | |
| 3 | g.81535278T>G | CA353686165 | GBE1 | c.1851A>C (p.Glu617Asp) n.252A>C c.1728A>C (p.Glu576Asp) | |
| 3 | g.81535279T>A | CA353686168 | GBE1 | c.1850A>T (p.Glu617Val) n.251A>T c.1727A>T (p.Glu576Val) | |
| 3 | g.81535279T>C | CA353686166 | GBE1 | c.1850A>G (p.Glu617Gly) n.251A>G c.1727A>G (p.Glu576Gly) | |
| 3 | g.81535279T>G | CA353686167 | GBE1 | c.1850A>C (p.Glu617Ala) n.251A>C c.1727A>C (p.Glu576Ala) | |
| 3 | g.81535280C>A | CA353686169 | GBE1 | c.1849G>T (p.Glu617Ter) n.250G>T c.1726G>T (p.Glu576Ter) | |
| 3 | g.81535280C>G | CA353686170 | GBE1 | c.1849G>C (p.Glu617Gln) n.250G>C c.1726G>C (p.Glu576Gln) | |
| 3 | g.81535280C>T | CA353686171 | GBE1 | c.1849G>A (p.Glu617Lys) n.250G>A c.1726G>A (p.Glu576Lys) | |
| 3 | g.81535281A= | CA1378679242 | GBE1 | c.1848T= (p.Phe616=) n.249T= c.1725T= (p.Phe575=) | |
| 3 | g.81535281A>C | CA2499536 | GBE1 | c.1848T>G (p.Phe616Leu) n.249T>G c.1725T>G (p.Phe575Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535281A>G | CA434494294 | GBE1 | c.1848T>C (p.Phe616=) n.249T>C c.1725T>C (p.Phe575=) | COSMIC COSMIC |
| 3 | g.81535281A>T | CA353686172 | GBE1 | c.1848T>A (p.Phe616Leu) n.249T>A c.1725T>A (p.Phe575Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81535282A>C | CA353686173 | GBE1 | c.1847T>G (p.Phe616Cys) n.248T>G c.1724T>G (p.Phe575Cys) | |
| 3 | g.81535282A>G | CA353686174 | GBE1 | c.1847T>C (p.Phe616Ser) n.248T>C c.1724T>C (p.Phe575Ser) | |
| 3 | g.81535282A>T | CA353686175 | GBE1 | c.1847T>A (p.Phe616Tyr) n.248T>A c.1724T>A (p.Phe575Tyr) | |
| 3 | g.81535283A>C | CA353686176 | GBE1 | c.1846T>G (p.Phe616Val) n.247T>G c.1723T>G (p.Phe575Val) | |
| 3 | g.81535283A>G | CA353686177 | GBE1 | c.1846T>C (p.Phe616Leu) n.247T>C c.1723T>C (p.Phe575Leu) | gnomAD v4 |
| 3 | g.81535283A>T | CA353686178 | GBE1 | c.1846T>A (p.Phe616Ile) n.247T>A c.1723T>A (p.Phe575Ile) | |
| 3 | g.81535284A>C | CA434494311 | GBE1 | c.1845T>G (p.Ala615=) n.246T>G c.1722T>G (p.Ala574=) | |
| 3 | g.81535284A>G | CA434494312 | GBE1 | c.1845T>C (p.Ala615=) n.246T>C c.1722T>C (p.Ala574=) | |
| 3 | g.81535284A>T | CA434494315 | GBE1 | c.1845T>A (p.Ala615=) n.246T>A c.1722T>A (p.Ala574=) | |
| 3 | g.81535285G>A | CA353686180 | GBE1 | c.1844C>T (p.Ala615Val) n.245C>T c.1721C>T (p.Ala574Val) | COSMIC COSMIC |
| 3 | g.81535285G>C | CA353686179 | GBE1 | c.1844C>G (p.Ala615Gly) n.245C>G c.1721C>G (p.Ala574Gly) | |
| 3 | g.81535285G= | CA1378679243 | GBE1 | c.1844C= (p.Ala615=) n.245C= c.1721C= (p.Ala574=) | |
| 3 | g.81535285G>T | CA2499537 | GBE1 | c.1844C>A (p.Ala615Asp) n.245C>A c.1721C>A (p.Ala574Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535286C>A | CA353686181 | GBE1 | c.1843G>T (p.Ala615Ser) n.244G>T c.1720G>T (p.Ala574Ser) | |
| 3 | g.81535286C= | CA1378679244 | GBE1 | c.1843G= (p.Ala615=) n.244G= c.1720G= (p.Ala574=) | |
| 3 | g.81535286C>G | CA353686182 | GBE1 | c.1843G>C (p.Ala615Pro) n.244G>C c.1720G>C (p.Ala574Pro) | ClinVar dbSNP |
| 3 | g.81535286C>T | CA2499538 | GBE1 | c.1843G>A (p.Ala615Thr) n.244G>A c.1720G>A (p.Ala574Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535287A= | CA1378679245 | GBE1 | c.1842T= (p.Ile614=) n.243T= c.1719T= (p.Ile573=) | |
| 3 | g.81535287A>C | CA353686183 | GBE1 | c.1842T>G (p.Ile614Met) n.243T>G c.1719T>G (p.Ile573Met) | |
| 3 | g.81535287A>G | CA10586875 | GBE1 | c.1842T>C (p.Ile614=) n.243T>C c.1719T>C (p.Ile573=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535287A>T | CA2499539 | GBE1 | c.1842T>A (p.Ile614=) n.243T>A c.1719T>A (p.Ile573=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81535288A>C | CA353686186 | GBE1 | c.1841T>G (p.Ile614Ser) n.242T>G c.1718T>G (p.Ile573Ser) | |
| 3 | g.81535288A>G | CA353686184 | GBE1 | c.1841T>C (p.Ile614Thr) n.242T>C c.1718T>C (p.Ile573Thr) | gnomAD v4 |
| 3 | g.81535288A>T | CA353686185 | GBE1 | c.1841T>A (p.Ile614Asn) n.242T>A c.1718T>A (p.Ile573Asn) | |
| 3 | g.81535289T>A | CA353686187 | GBE1 | c.1840A>T (p.Ile614Phe) n.241A>T c.1717A>T (p.Ile573Phe) | gnomAD v4 |
| 3 | g.81535289T>C | CA353686188 | GBE1 | c.1840A>G (p.Ile614Val) n.241A>G c.1717A>G (p.Ile573Val) | |
| 3 | g.81535289T>G | CA353686189 | GBE1 | c.1840A>C (p.Ile614Leu) n.241A>C c.1717A>C (p.Ile573Leu) | |
| 3 | g.81535290G>A | CA434494349 | GBE1 | c.1839C>T (p.Ile613=) n.240C>T c.1716C>T (p.Ile572=) | ClinVar dbSNP |
| 3 | g.81535290G>C | CA353686190 | GBE1 | c.1839C>G (p.Ile613Met) n.240C>G c.1716C>G (p.Ile572Met) | |
| 3 | g.81535290G= | CA1378679246 | GBE1 | c.1839C= (p.Ile613=) n.240C= c.1716C= (p.Ile572=) | |
| 3 | g.81535290G>T | CA78280196 | GBE1 | c.1839C>A (p.Ile613=) n.240C>A c.1716C>A (p.Ile572=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81535291A>C | CA353686193 | GBE1 | c.1838T>G (p.Ile613Ser) n.239T>G c.1715T>G (p.Ile572Ser) | |
| 3 | g.81535291A>G | CA353686191 | GBE1 | c.1838T>C (p.Ile613Thr) n.239T>C c.1715T>C (p.Ile572Thr) | |
| 3 | g.81535291A>T | CA353686192 | GBE1 | c.1838T>A (p.Ile613Asn) n.239T>A c.1715T>A (p.Ile572Asn) | gnomAD v4 |
| 3 | g.81535292T>A | CA353686194 | GBE1 | c.1837A>T (p.Ile613Phe) n.238A>T c.1714A>T (p.Ile572Phe) | |
| 3 | g.81535292T>C | CA353686195 | GBE1 | c.1837A>G (p.Ile613Val) n.238A>G c.1714A>G (p.Ile572Val) | dbSNP gnomAD v4 |
| 3 | g.81535292T>G | CA353686196 | GBE1 | c.1837A>C (p.Ile613Leu) n.238A>C c.1714A>C (p.Ile572Leu) | |
| 3 | g.81535293C>A | CA353686197 | GBE1 | c.1836G>T (p.Lys612Asn) n.237G>T c.1713G>T (p.Lys571Asn) | |
| 3 | g.81535293C>G | CA353686198 | GBE1 | c.1836G>C (p.Lys612Asn) n.237G>C c.1713G>C (p.Lys571Asn) | |
| 3 | g.81535293C>T | CA434494369 | GBE1 | c.1836G>A (p.Lys612=) n.237G>A c.1713G>A (p.Lys571=) | ClinVar |
| 3 | g.81535294T>A | CA353686199 | GBE1 | c.1835A>T (p.Lys612Met) n.236A>T c.1712A>T (p.Lys571Met) | |
| 3 | g.81535294T>C | CA353686200 | GBE1 | c.1835A>G (p.Lys612Arg) n.236A>G c.1712A>G (p.Lys571Arg) | |
| 3 | g.81535294T>G | CA353686201 | GBE1 | c.1835A>C (p.Lys612Thr) n.236A>C c.1712A>C (p.Lys571Thr) | dbSNP |
| 3 | g.81535294T= | CA1378679247 | GBE1 | c.1835A= (p.Lys612=) n.236A= c.1712A= (p.Lys571=) | |
| 3 | g.81535295T>A | CA353686202 | GBE1 | c.1834A>T (p.Lys612Ter) n.235A>T c.1711A>T (p.Lys571Ter) | |
| 3 | g.81535295T>C | CA353686203 | GBE1 | c.1834A>G (p.Lys612Glu) n.235A>G c.1711A>G (p.Lys571Glu) | |
| 3 | g.81535295T>G | CA353686204 | GBE1 | c.1834A>C (p.Lys612Gln) n.235A>C c.1711A>C (p.Lys571Gln) | |
| 3 | g.81535296A>C | CA353686205 | GBE1 | c.1833T>G (p.Asn611Lys) n.234T>G c.1710T>G (p.Asn570Lys) | |
| 3 | g.81535296A>G | CA434494387 | GBE1 | c.1833T>C (p.Asn611=) n.234T>C c.1710T>C (p.Asn570=) | gnomAD v4 |
| 3 | g.81535296A>T | CA353686206 | GBE1 | c.1833T>A (p.Asn611Lys) n.234T>A c.1710T>A (p.Asn570Lys) | |
| 3 | g.81535297T>A | CA353686207 | GBE1 | c.1832A>T (p.Asn611Ile) n.233A>T c.1709A>T (p.Asn570Ile) | |
| 3 | g.81535297T>C | CA2499540 | GBE1 | c.1832A>G (p.Asn611Ser) n.233A>G c.1709A>G (p.Asn570Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81535297T>G | CA353686208 | GBE1 | c.1832A>C (p.Asn611Thr) n.233A>C c.1709A>C (p.Asn570Thr) | |
| 3 | g.81535297T= | CA1378679248 | GBE1 | c.1832A= (p.Asn611=) n.233A= c.1709A= (p.Asn570=) | |
| 3 | g.81535298T>A | CA353686209 | GBE1 | c.1831A>T (p.Asn611Tyr) n.232A>T c.1708A>T (p.Asn570Tyr) | |
| 3 | g.81535298T>C | CA353686210 | GBE1 | c.1831A>G (p.Asn611Asp) n.232A>G c.1708A>G (p.Asn570Asp) | COSMIC COSMIC |
| 3 | g.81535298T>G | CA353686211 | GBE1 | c.1831A>C (p.Asn611His) n.232A>C c.1708A>C (p.Asn570His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81535299G>A | CA434494400 | GBE1 | c.1830C>T (p.Gly610=) n.231C>T c.1707C>T (p.Gly569=) | |
| 3 | g.81535299G>C | CA434494402 | GBE1 | c.1830C>G (p.Gly610=) n.231C>G c.1707C>G (p.Gly569=) | |
| 3 | g.81535299G>T | CA434494404 | GBE1 | c.1830C>A (p.Gly610=) n.231C>A c.1707C>A (p.Gly569=) | |
| 3 | g.81535300C>A | CA353686212 | GBE1 | c.1829G>T (p.Gly610Val) n.230G>T c.1706G>T (p.Gly569Val) | dbSNP |
| 3 | g.81535300C= | CA1378679249 | GBE1 | c.1829G= (p.Gly610=) n.230G= c.1706G= (p.Gly569=) | |
| 3 | g.81535300C>G | CA353686213 | GBE1 | c.1829G>C (p.Gly610Ala) n.230G>C c.1706G>C (p.Gly569Ala) | |
| 3 | g.81535300C>T | CA2499541 | GBE1 | c.1829G>A (p.Gly610Asp) n.230G>A c.1706G>A (p.Gly569Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535301C>A | CA353686214 | GBE1 | c.1828G>T (p.Gly610Cys) n.229G>T c.1705G>T (p.Gly569Cys) | |
| 3 | g.81535301C= | CA1378679250 | GBE1 | c.1828G= (p.Gly610=) n.229G= c.1705G= (p.Gly569=) | |
| 3 | g.81535301C>G | CA353686215 | GBE1 | c.1828G>C (p.Gly610Arg) n.229G>C c.1705G>C (p.Gly569Arg) | dbSNP |
| 3 | g.81535301C>T | CA353686216 | GBE1 | c.1828G>A (p.Gly610Ser) n.229G>A c.1705G>A (p.Gly569Ser) | gnomAD v4 |
| 3 | g.81535302T>A | CA353686217 | GBE1 | c.1827A>T (p.Glu609Asp) n.228A>T c.1704A>T (p.Glu568Asp) | |
| 3 | g.81535302T>C | CA434494424 | GBE1 | c.1827A>G (p.Glu609=) n.228A>G c.1704A>G (p.Glu568=) | |
| 3 | g.81535302T>G | CA353686218 | GBE1 | c.1827A>C (p.Glu609Asp) n.228A>C c.1704A>C (p.Glu568Asp) | |
| 3 | g.81535303T>A | CA353686221 | GBE1 | c.1826A>T (p.Glu609Val) n.227A>T c.1703A>T (p.Glu568Val) | |
| 3 | g.81535303T>C | CA353686220 | GBE1 | c.1826A>G (p.Glu609Gly) n.227A>G c.1703A>G (p.Glu568Gly) | |
| 3 | g.81535303T>G | CA353686219 | GBE1 | c.1826A>C (p.Glu609Ala) n.227A>C c.1703A>C (p.Glu568Ala) | |
| 3 | g.81535304C>A | CA2499543 | GBE1 | c.1825G>T (p.Glu609Ter) n.226G>T c.1702G>T (p.Glu568Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81535304C= | CA1378679251 | GBE1 | c.1825G= (p.Glu609=) n.226G= c.1702G= (p.Glu568=) | |
| 3 | g.81535304C>G | CA353686222 | GBE1 | c.1825G>C (p.Glu609Gln) n.226G>C c.1702G>C (p.Glu568Gln) | |
| 3 | g.81535304C>T | CA2499542 | GBE1 | c.1825G>A (p.Glu609Lys) n.226G>A c.1702G>A (p.Glu568Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.81535304_81535306delinsCAT | CA1378679252 | GBE1 | c.1823_1825delinsATG (p.His608=) n.224_226delinsATG c.1700_1702delinsATG (p.His567=) | |
| 3 | g.81535305A>C | CA353686223 | GBE1 | c.1824T>G (p.His608Gln) n.225T>G c.1701T>G (p.His567Gln) | |
| 3 | g.81535305A>G | CA434494442 | GBE1 | c.1824T>C (p.His608=) n.225T>C c.1701T>C (p.His567=) | |
| 3 | g.81535305A>T | CA353686224 | GBE1 | c.1824T>A (p.His608Gln) n.225T>A c.1701T>A (p.His567Gln) | |
| 3 | g.81535305_81535306del | CA910983026 | GBE1 | c.1823_1824del (p.His608ArgfsTer4) n.224_225del c.1700_1701del (p.His567ArgfsTer4) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81535306T>A | CA353686225 | GBE1 | c.1823A>T (p.His608Leu) n.224A>T c.1700A>T (p.His567Leu) | |
| 3 | g.81535306T>C | CA2499544 | GBE1 | c.1823A>G (p.His608Arg) n.224A>G c.1700A>G (p.His567Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81535306T>G | CA353686226 | GBE1 | c.1823A>C (p.His608Pro) n.224A>C c.1700A>C (p.His567Pro) | |
| 3 | g.81535306T= | CA1378679253 | GBE1 | c.1823A= (p.His608=) n.224A= c.1700A= (p.His567=) | |
| 3 | g.81535307G>A | CA353686227 | GBE1 | c.1822C>T (p.His608Tyr) n.223C>T c.1699C>T (p.His567Tyr) | |
| 3 | g.81535307G>C | CA353686228 | GBE1 | c.1822C>G (p.His608Asp) n.223C>G c.1699C>G (p.His567Asp) | |
| 3 | g.81535307G>T | CA353686229 | GBE1 | c.1822C>A (p.His608Asn) n.223C>A c.1699C>A (p.His567Asn) | |
| 3 | g.81535308T>A | CA353686230 | GBE1 | c.1821A>T (p.Lys607Asn) n.222A>T c.1698A>T (p.Lys566Asn) | |
| 3 | g.81535308T>C | CA434494459 | GBE1 | c.1821A>G (p.Lys607=) n.222A>G c.1698A>G (p.Lys566=) | ClinVar dbSNP |
| 3 | g.81535308T>G | CA353686231 | GBE1 | c.1821A>C (p.Lys607Asn) n.222A>C c.1698A>C (p.Lys566Asn) | |
| 3 | g.81535312del | CA645534194 | GBE1 | c.1821del (p.Lys607AsnfsTer?) n.222del c.1698del (p.Lys566AsnfsTer?) | gnomAD v4 COSMIC COSMIC |
| 3 | g.81535309T>A | CA353686234 | GBE1 | c.1820A>T (p.Lys607Ile) n.221A>T c.1697A>T (p.Lys566Ile) | |
| 3 | g.81535309T>C | CA353686233 | GBE1 | c.1820A>G (p.Lys607Arg) n.221A>G c.1697A>G (p.Lys566Arg) | |
| 3 | g.81535309T>G | CA353686232 | GBE1 | c.1820A>C (p.Lys607Thr) n.221A>C c.1697A>C (p.Lys566Thr) | |
| 3 | g.81535310T>A | CA353686236 | GBE1 | c.1819A>T (p.Lys607Ter) n.220A>T c.1696A>T (p.Lys566Ter) | |
| 3 | g.81535310T>C | CA353686235 | GBE1 | c.1819A>G (p.Lys607Glu) n.220A>G c.1696A>G (p.Lys566Glu) | gnomAD v4 |
| 3 | g.81535310T>G | CA353686237 | GBE1 | c.1819A>C (p.Lys607Gln) n.220A>C c.1696A>C (p.Lys566Gln) | |
| 3 | g.81535311T>A | CA353686238 | GBE1 | c.1818A>T (p.Glu606Asp) n.219A>T c.1695A>T (p.Glu565Asp) | |
| 3 | g.81535311T>C | CA434494479 | GBE1 | c.1818A>G (p.Glu606=) n.219A>G c.1695A>G (p.Glu565=) | |
| 3 | g.81535311T>G | CA353686239 | GBE1 | c.1818A>C (p.Glu606Asp) n.219A>C c.1695A>C (p.Glu565Asp) | |
| 3 | g.81535312T>A | CA353686240 | GBE1 | c.1817A>T (p.Glu606Val) n.218A>T c.1694A>T (p.Glu565Val) | |
| 3 | g.81535312T>C | CA353686241 | GBE1 | c.1817A>G (p.Glu606Gly) n.218A>G c.1694A>G (p.Glu565Gly) | |
| 3 | g.81535312T>G | CA353686242 | GBE1 | c.1817A>C (p.Glu606Ala) n.218A>C c.1694A>C (p.Glu565Ala) | |
| 3 | g.81535313C>A | CA353686243 | GBE1 | c.1816G>T (p.Glu606Ter) n.217G>T c.1693G>T (p.Glu565Ter) | gnomAD v4 |
| 3 | g.81535313C= | CA1378679254 | GBE1 | c.1816G= (p.Glu606=) n.217G= c.1693G= (p.Glu565=) | |
| 3 | g.81535313C>G | CA353686244 | GBE1 | c.1816G>C (p.Glu606Gln) n.217G>C c.1693G>C (p.Glu565Gln) | |
| 3 | g.81535313C>T | CA353686245 | GBE1 | c.1816G>A (p.Glu606Lys) n.217G>A c.1693G>A (p.Glu565Lys) | dbSNP |
| 3 | g.81535314A>C | CA353686246 | GBE1 | c.1815T>G (p.Ser605Arg) n.216T>G c.1692T>G (p.Ser564Arg) | |
| 3 | g.81535314A>G | CA434494498 | GBE1 | c.1815T>C (p.Ser605=) n.216T>C c.1692T>C (p.Ser564=) | |
| 3 | g.81535314A>T | CA353686247 | GBE1 | c.1815T>A (p.Ser605Arg) n.216T>A c.1692T>A (p.Ser564Arg) | |
| 3 | g.81535315C>A | CA353686248 | GBE1 | c.1814G>T (p.Ser605Ile) n.215G>T c.1691G>T (p.Ser564Ile) | |
| 3 | g.81535315C= | CA1378679255 | GBE1 | c.1814G= (p.Ser605=) n.215G= c.1691G= (p.Ser564=) | |
| 3 | g.81535315C>G | CA353686249 | GBE1 | c.1814G>C (p.Ser605Thr) n.215G>C c.1691G>C (p.Ser564Thr) | |
| 3 | g.81535315C>T | CA2499545 | GBE1 | c.1814G>A (p.Ser605Asn) n.215G>A c.1691G>A (p.Ser564Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535316T>A | CA353686252 | GBE1 | c.1813A>T (p.Ser605Cys) n.214A>T c.1690A>T (p.Ser564Cys) | |
| 3 | g.81535316T>C | CA353686251 | GBE1 | c.1813A>G (p.Ser605Gly) n.214A>G c.1690A>G (p.Ser564Gly) | |
| 3 | g.81535316T>G | CA353686250 | GBE1 | c.1813A>C (p.Ser605Arg) n.214A>C c.1690A>C (p.Ser564Arg) | |
| 3 | g.81535317C>A | CA434494516 | GBE1 | c.1812G>T (p.Val604=) n.213G>T c.1689G>T (p.Val563=) | |
| 3 | g.81535317C>G | CA434494522 | GBE1 | c.1812G>C (p.Val604=) n.213G>C c.1689G>C (p.Val563=) | |
| 3 | g.81535317C>T | CA434494519 | GBE1 | c.1812G>A (p.Val604=) n.213G>A c.1689G>A (p.Val563=) | |
| 3 | g.81535318A>C | CA353686253 | GBE1 | c.1811T>G (p.Val604Gly) n.212T>G c.1688T>G (p.Val563Gly) | |
| 3 | g.81535318A>G | CA353686254 | GBE1 | c.1811T>C (p.Val604Ala) n.212T>C c.1688T>C (p.Val563Ala) | |
| 3 | g.81535318A>T | CA353686255 | GBE1 | c.1811T>A (p.Val604Glu) n.212T>A c.1688T>A (p.Val563Glu) | |
| 3 | g.81535319C>A | CA353686256 | GBE1 | c.1810G>T (p.Val604Leu) n.211G>T c.1687G>T (p.Val563Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81535319C= | CA1378679256 | GBE1 | c.1810G= (p.Val604=) n.211G= c.1687G= (p.Val563=) | |
| 3 | g.81535319C>G | CA353686257 | GBE1 | c.1810G>C (p.Val604Leu) n.211G>C c.1687G>C (p.Val563Leu) | dbSNP |
| 3 | g.81535319C>T | CA2499546 | GBE1 | c.1810G>A (p.Val604Met) n.211G>A c.1687G>A (p.Val563Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535320G>A | CA2499547 | GBE1 | c.1809C>T (p.Tyr603=) n.210C>T c.1686C>T (p.Tyr562=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535320G>C | CA353686258 | GBE1 | c.1809C>G (p.Tyr603Ter) n.210C>G c.1686C>G (p.Tyr562Ter) | |
| 3 | g.81535320G= | CA1378679257 | GBE1 | c.1809C= (p.Tyr603=) n.210C= c.1686C= (p.Tyr562=) | |
| 3 | g.81535320G>T | CA353686259 | GBE1 | c.1809C>A (p.Tyr603Ter) n.210C>A c.1686C>A (p.Tyr562Ter) | |
| 3 | g.81535321T>A | CA353686260 | GBE1 | c.1808A>T (p.Tyr603Phe) n.209A>T c.1685A>T (p.Tyr562Phe) | |
| 3 | g.81535321T>C | CA353686261 | GBE1 | c.1808A>G (p.Tyr603Cys) n.209A>G c.1685A>G (p.Tyr562Cys) | |
| 3 | g.81535321T>G | CA353686262 | GBE1 | c.1808A>C (p.Tyr603Ser) n.209A>C c.1685A>C (p.Tyr562Ser) | |
| 3 | g.81535322A>C | CA353686264 | GBE1 | c.1807T>G (p.Tyr603Asp) n.208T>G c.1684T>G (p.Tyr562Asp) | |
| 3 | g.81535322A>G | CA353686265 | GBE1 | c.1807T>C (p.Tyr603His) n.208T>C c.1684T>C (p.Tyr562His) | |
| 3 | g.81535322A>T | CA353686263 | GBE1 | c.1807T>A (p.Tyr603Asn) n.208T>A c.1684T>A (p.Tyr562Asn) | |
| 3 | g.81535322_81535323insAAATGT | CA2666620853 | GBE1 | c.1806_1807insACATTT (p.Ala602_Tyr603insThrPhe) n.207_208insACATTT c.1683_1684insACATTT (p.Ala561_Tyr562insThrPhe) | gnomAD v4 |
| 3 | g.81535323G>A | CA434494560 | GBE1 | c.1806C>T (p.Ala602=) n.207C>T c.1683C>T (p.Ala561=) | |
| 3 | g.81535323G>C | CA434494558 | GBE1 | c.1806C>G (p.Ala602=) n.207C>G c.1683C>G (p.Ala561=) | |
| 3 | g.81535323G= | CA1378679258 | GBE1 | c.1806C= (p.Ala602=) n.207C= c.1683C= (p.Ala561=) | |
| 3 | g.81535323G>T | CA434494563 | GBE1 | c.1806C>A (p.Ala602=) n.207C>A c.1683C>A (p.Ala561=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81535324G>A | CA353686266 | GBE1 | c.1805C>T (p.Ala602Val) n.206C>T c.1682C>T (p.Ala561Val) | ClinVar gnomAD v4 |
| 3 | g.81535324G>C | CA353686267 | GBE1 | c.1805C>G (p.Ala602Gly) n.206C>G c.1682C>G (p.Ala561Gly) | |
| 3 | g.81535324G>T | CA353686268 | GBE1 | c.1805C>A (p.Ala602Asp) n.206C>A c.1682C>A (p.Ala561Asp) | gnomAD v4 |
| 3 | g.81535324_81535326del | CA2666620854 | GBE1 | c.1804-1_1805del n.205-1_206del c.1681-1_1682del | gnomAD v4 |
| 3 | g.81535325C>A | CA353686269 | GBE1 | c.1804G>T (p.Ala602Ser) n.205G>T c.1681G>T (p.Ala561Ser) | gnomAD v4 |
| 3 | g.81535325C= | CA1378679259 | GBE1 | c.1804G= (p.Ala602=) n.205G= c.1681G= (p.Ala561=) | |
| 3 | g.81535325C>G | CA78280197 | GBE1 | c.1804G>C (p.Ala602Pro) n.205G>C c.1681G>C (p.Ala561Pro) | dbSNP |
| 3 | g.81535325C>T | CA353686270 | GBE1 | c.1804G>A (p.Ala602Thr) n.205G>A c.1681G>A (p.Ala561Thr) | |
| 3 | g.81535326C>A | CA353686271 | GBE1 | c.1804-1G>T (n.1804-1G>T) n.205-1G>T c.1681-1G>T (n.1681-1G>T) | |
| 3 | g.81535326C>G | CA353686272 | GBE1 | c.1804-1G>C (n.1804-1G>C) n.205-1G>C c.1681-1G>C (n.1681-1G>C) | |
| 3 | g.81535326C>T | CA353686273 | GBE1 | c.1804-1G>A (n.1804-1G>A) n.205-1G>A c.1681-1G>A (n.1681-1G>A) | |
| 3 | g.81535327T>A | CA353686274 | GBE1 | c.1804-2A>T (n.1804-2A>T) n.205-2A>T c.1681-2A>T (n.1681-2A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81535327T>C | CA353686275 | GBE1 | c.1804-2A>G (n.1804-2A>G) n.205-2A>G c.1681-2A>G (n.1681-2A>G) | |
| 3 | g.81535327T>G | CA353686276 | GBE1 | c.1804-2A>C (n.1804-2A>C) n.205-2A>C c.1681-2A>C (n.1681-2A>C) | |
| 3 | g.81535327T= | CA1378679260 | GBE1 | c.1804-2A= (n.1804-2A=) n.205-2A= c.1681-2A= (n.1681-2A=) | |
| 3 | g.81535328G>A | CA2666620855 | GBE1 | c.1804-3C>T (n.1804-3C>T) n.205-3C>T c.1681-3C>T (n.1681-3C>T) | gnomAD v4 |
| 3 | g.81535328G>T | CA2666620856 | GBE1 | c.1804-3C>A (n.1804-3C>A) n.205-3C>A c.1681-3C>A (n.1681-3C>A) | gnomAD v4 |
| 3 | g.81535329C= | CA1378679261 | GBE1 | c.1804-4G= (n.1804-4G=) n.205-4G= c.1681-4G= (n.1681-4G=) | |
| 3 | g.81535329C>T | CA544279020 | GBE1 | c.1804-4G>A (n.1804-4G>A) n.205-4G>A c.1681-4G>A (n.1681-4G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81535332_81535334del | CA2577825662 | GBE1 | c.1804-7_1804-5del (n.1804-7_1804-5del) n.205-7_205-5del c.1681-7_1681-5del (n.1681-7_1681-5del) | |
| 3 | g.81535331A= | CA1378679262 | GBE1 | c.1804-6T= (n.1804-6T=) n.205-6T= c.1681-6T= (n.1681-6T=) | |
| 3 | g.81535331A>C | CA2499548 | GBE1 | c.1804-6T>G (n.1804-6T>G) n.205-6T>G c.1681-6T>G (n.1681-6T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81535331A>T | CA2666620857 | GBE1 | c.1804-6T>A (n.1804-6T>A) n.205-6T>A c.1681-6T>A (n.1681-6T>A) | gnomAD v4 |
| 3 | g.81535332G>T | CA2666620858 | GBE1 | c.1804-7C>A (n.1804-7C>A) n.205-7C>A c.1681-7C>A (n.1681-7C>A) | gnomAD v4 |
| 3 | g.81535333A>G | CA2666620859 | GBE1 | c.1804-8T>C (n.1804-8T>C) n.205-8T>C c.1681-8T>C (n.1681-8T>C) | gnomAD v4 |
| 3 | g.81535335T>C | CA2666620860 | GBE1 | c.1804-10A>G (n.1804-10A>G) n.205-10A>G c.1681-10A>G (n.1681-10A>G) | gnomAD v4 |
| 3 | g.81535336T>C | CA2666620861 | GBE1 | c.1804-11A>G (n.1804-11A>G) n.205-11A>G c.1681-11A>G (n.1681-11A>G) | gnomAD v4 |
| 3 | g.81535338G>A | CA78280198 | GBE1 | c.1804-13C>T (n.1804-13C>T) n.205-13C>T c.1681-13C>T (n.1681-13C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81535338G= | CA1378679263 | GBE1 | c.1804-13C= (n.1804-13C=) n.205-13C= c.1681-13C= (n.1681-13C=) | |
| 3 | g.81535339C= | CA1378679264 | GBE1 | c.1804-14G= (n.1804-14G=) n.205-14G= c.1681-14G= (n.1681-14G=) | |
| 3 | g.81535339C>T | CA544279021 | GBE1 | c.1804-14G>A (n.1804-14G>A) n.205-14G>A c.1681-14G>A (n.1681-14G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81535341C>G | CA2740094525 | GBE1 | c.1804-16G>C (n.1804-16G>C) n.205-16G>C c.1681-16G>C (n.1681-16G>C) | ClinVar |
| 3 | g.81535341C>T | CA2740094526 | GBE1 | c.1804-16G>A (n.1804-16G>A) n.205-16G>A c.1681-16G>A (n.1681-16G>A) | ClinVar |
| 3 | g.81535342A= | CA1378679265 | GBE1 | c.1804-17T= (n.1804-17T=) n.205-17T= c.1681-17T= (n.1681-17T=) | |
| 3 | g.81535342A>T | CA2499549 | GBE1 | c.1804-17T>A (n.1804-17T>A) n.205-17T>A c.1681-17T>A (n.1681-17T>A) | dbSNP ExAC gnomAD v2 |
| 3 | g.81535343C>A | CA2666620862 | GBE1 | c.1804-18G>T (n.1804-18G>T) n.205-18G>T c.1681-18G>T (n.1681-18G>T) | gnomAD v4 |
| 3 | g.81535343C= | CA1378679267 | GBE1 | c.1804-18G= (n.1804-18G=) n.205-18G= c.1681-18G= (n.1681-18G=) | |
| 3 | g.81535343C>T | CA2499551 | GBE1 | c.1804-18G>A (n.1804-18G>A) n.205-18G>A c.1681-18G>A (n.1681-18G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81535343_81535345delinsCAT | CA1378679266 | GBE1 | c.1804-20_1804-18delinsATG (n.1804-20_1804-18delinsATG) n.205-20_205-18delinsATG c.1681-20_1681-18delinsATG (n.1681-20_1681-18delinsATG) | |
| 3 | g.81535344A= | CA1378679268 | GBE1 | c.1804-19T= (n.1804-19T=) n.205-19T= c.1681-19T= (n.1681-19T=) | |
| 3 | g.81535344A>G | CA78280199 | GBE1 | c.1804-19T>C (n.1804-19T>C) n.205-19T>C c.1681-19T>C (n.1681-19T>C) | dbSNP gnomAD v4 |
| 3 | g.81535344_81535345del | CA2499550 | GBE1 | c.1804-20_1804-19del (n.1804-20_1804-19del) n.205-20_205-19del c.1681-20_1681-19del (n.1681-20_1681-19del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535345T>C | CA2499552 | GBE1 | c.1804-20A>G (n.1804-20A>G) n.205-20A>G c.1681-20A>G (n.1681-20A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535345T= | CA1378679269 | GBE1 | c.1804-20A= (n.1804-20A=) n.205-20A= c.1681-20A= (n.1681-20A=) | |
| 3 | g.81535346G>A | CA2666620863 | GBE1 | c.1804-21C>T (n.1804-21C>T) n.205-21C>T c.1681-21C>T (n.1681-21C>T) | gnomAD v4 |
| 3 | g.81535346G>T | CA2666620864 | GBE1 | c.1804-21C>A (n.1804-21C>A) n.205-21C>A c.1681-21C>A (n.1681-21C>A) | gnomAD v4 |
| 3 | g.81535347T>C | CA2666620865 | GBE1 | c.1804-22A>G (n.1804-22A>G) n.205-22A>G c.1681-22A>G (n.1681-22A>G) | gnomAD v4 |
| 3 | g.81535349dup | CA2666620866 | GBE1 | c.1804-24dup (n.1804-24dup) n.205-24dup c.1681-24dup (n.1681-24dup) | gnomAD v4 |
| 3 | g.81535350C= | CA1378679270 | GBE1 | c.1804-25G= (n.1804-25G=) n.205-25G= c.1681-25G= (n.1681-25G=) | |
| 3 | g.81535350C>T | CA78280200 | GBE1 | c.1804-25G>A (n.1804-25G>A) n.205-25G>A c.1681-25G>A (n.1681-25G>A) | dbSNP |
| 3 | g.81535351A= | CA1378679271 | GBE1 | c.1804-26T= (n.1804-26T=) n.205-26T= c.1681-26T= (n.1681-26T=) | |
| 3 | g.81535351A>G | CA2499553 | GBE1 | c.1804-26T>C (n.1804-26T>C) n.205-26T>C c.1681-26T>C (n.1681-26T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81535351A>T | CA2577825663 | GBE1 | c.1804-26T>A (n.1804-26T>A) n.205-26T>A c.1681-26T>A (n.1681-26T>A) | |
| 3 | g.81535354T>A | CA2666620867 | GBE1 | c.1804-29A>T (n.1804-29A>T) n.205-29A>T c.1681-29A>T (n.1681-29A>T) | gnomAD v4 |
| 3 | g.81535357A>G | CA2666620868 | GBE1 | c.1804-32T>C (n.1804-32T>C) n.205-32T>C c.1681-32T>C (n.1681-32T>C) | gnomAD v4 |