Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.136430291C>A | CA375561115 | INPP5E | c.1788G>T (p.Arg596Ser) c.1686G>T (p.Arg562Ser) c.1785G>T (p.Arg595Ser) n.2393G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136430291C= | CA1884224138 | INPP5E | c.1788G= (p.Arg596=) c.1686G= (p.Arg562=) c.1785G= (p.Arg595=) n.2393G= | |
9 | g.136430291C>G | CA375561116 | INPP5E | c.1788G>C (p.Arg596Ser) c.1686G>C (p.Arg562Ser) c.1785G>C (p.Arg595Ser) n.2393G>C | dbSNP |
9 | g.136430291C>T | CA201638273 | INPP5E | c.1788G>A (p.Arg596=) c.1686G>A (p.Arg562=) c.1785G>A (p.Arg595=) n.2393G>A | dbSNP gnomAD v4 |
9 | g.136430291_136430295delinsCCTCA | CA1884224137 | INPP5E | c.1784_1788delinsTGAGG (p.Val595=) c.1682_1686delinsTGAGG (p.Val561=) c.1781_1785delinsTGAGG (p.Val594=) n.2389_2393delinsTGAGG | |
9 | g.136430292C>A | CA375561118 | INPP5E | c.1787G>T (p.Arg596Met) c.1685G>T (p.Arg562Met) c.1784G>T (p.Arg595Met) n.2392G>T | gnomAD v4 |
9 | g.136430292C= | CA1884224139 | INPP5E | c.1787G= (p.Arg596=) c.1685G= (p.Arg562=) c.1784G= (p.Arg595=) n.2392G= | |
9 | g.136430292C>G | CA5336668 | INPP5E | c.1787G>C (p.Arg596Thr) c.1685G>C (p.Arg562Thr) c.1784G>C (p.Arg595Thr) n.2392G>C | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
9 | g.[136430292C>G;136438674G>A] | CA2499306169 | INPP5E | c.[746C>T;1787G>C] (p.[Ser249Phe;Arg596Thr]) c.[746C>T;1685G>C] (p.[Ser249Phe;Arg562Thr]) c.[746C>T;1784G>C] (p.[Ser249Phe;Arg595Thr]) n.[1188C>T;2392G>C] | ClinVar |
9 | g.136430292C>T | CA375561117 | INPP5E | c.1787G>A (p.Arg596Lys) c.1685G>A (p.Arg562Lys) c.1784G>A (p.Arg595Lys) n.2392G>A | gnomAD v4 |
9 | g.136430294_136430297del | CA861055882 | INPP5E | c.1784_1787del (p.Val595GlyfsTer21) c.1682_1685del (p.Val561GlyfsTer21) c.1781_1784del (p.Val594GlyfsTer21) c.1784_1787del (p.Val595GlyfsTer?) n.2389_2392del | dbSNP |
9 | g.136430293T>A | CA375561119 | INPP5E | c.1786A>T (p.Arg596Trp) c.1684A>T (p.Arg562Trp) c.1783A>T (p.Arg595Trp) n.2391A>T | |
9 | g.136430293T>C | CA375561120 | INPP5E | c.1786A>G (p.Arg596Gly) c.1684A>G (p.Arg562Gly) c.1783A>G (p.Arg595Gly) n.2391A>G | |
9 | g.136430293T>G | CA467720026 | INPP5E | c.1786A>C (p.Arg596=) c.1684A>C (p.Arg562=) c.1783A>C (p.Arg595=) n.2391A>C | |
9 | g.136430294C>A | CA467720030 | INPP5E | c.1785G>T (p.Val595=) c.1683G>T (p.Val561=) c.1782G>T (p.Val594=) n.2390G>T | |
9 | g.136430294C>G | CA467720027 | INPP5E | c.1785G>C (p.Val595=) c.1683G>C (p.Val561=) c.1782G>C (p.Val594=) n.2390G>C | |
9 | g.136430294C>T | CA467720029 | INPP5E | c.1785G>A (p.Val595=) c.1683G>A (p.Val561=) c.1782G>A (p.Val594=) n.2390G>A | gnomAD v4 |
9 | g.136430295A>C | CA375561121 | INPP5E | c.1784T>G (p.Val595Gly) c.1682T>G (p.Val561Gly) c.1781T>G (p.Val594Gly) n.2389T>G | |
9 | g.136430295A>G | CA375561122 | INPP5E | c.1784T>C (p.Val595Ala) c.1682T>C (p.Val561Ala) c.1781T>C (p.Val594Ala) n.2389T>C | |
9 | g.136430295A>T | CA375561123 | INPP5E | c.1784T>A (p.Val595Glu) c.1682T>A (p.Val561Glu) c.1781T>A (p.Val594Glu) n.2389T>A | |
9 | g.136430296C>A | CA375561124 | INPP5E | c.1783G>T (p.Val595Leu) c.1681G>T (p.Val561Leu) c.1780G>T (p.Val594Leu) n.2388G>T | |
9 | g.136430296C>G | CA375561125 | INPP5E | c.1783G>C (p.Val595Leu) c.1681G>C (p.Val561Leu) c.1780G>C (p.Val594Leu) n.2388G>C | |
9 | g.136430296C>T | CA375561126 | INPP5E | c.1783G>A (p.Val595Met) c.1681G>A (p.Val561Met) c.1780G>A (p.Val594Met) n.2388G>A | |
9 | g.136430297T>A | CA375561127 | INPP5E | c.1782A>T (p.Lys594Asn) c.1680A>T (p.Lys560Asn) c.1779A>T (p.Lys593Asn) n.2387A>T | COSMIC |
9 | g.136430297T>C | CA467720031 | INPP5E | c.1782A>G (p.Lys594=) c.1680A>G (p.Lys560=) c.1779A>G (p.Lys593=) n.2387A>G | |
9 | g.136430297T>G | CA375561128 | INPP5E | c.1782A>C (p.Lys594Asn) c.1680A>C (p.Lys560Asn) c.1779A>C (p.Lys593Asn) n.2387A>C | |
9 | g.136430298T>A | CA375561129 | INPP5E | c.1781A>T (p.Lys594Ile) c.1679A>T (p.Lys560Ile) c.1778A>T (p.Lys593Ile) n.2386A>T | gnomAD v4 |
9 | g.136430298T>C | CA375561130 | INPP5E | c.1781A>G (p.Lys594Arg) c.1679A>G (p.Lys560Arg) c.1778A>G (p.Lys593Arg) n.2386A>G | |
9 | g.136430298T>G | CA375561131 | INPP5E | c.1781A>C (p.Lys594Thr) c.1679A>C (p.Lys560Thr) c.1778A>C (p.Lys593Thr) n.2386A>C | |
9 | g.136430299T>A | CA375561132 | INPP5E | c.1780A>T (p.Lys594Ter) c.1678A>T (p.Lys560Ter) c.1777A>T (p.Lys593Ter) n.2385A>T | |
9 | g.136430299T>C | CA375561134 | INPP5E | c.1780A>G (p.Lys594Glu) c.1678A>G (p.Lys560Glu) c.1777A>G (p.Lys593Glu) n.2385A>G | |
9 | g.136430299T>G | CA375561133 | INPP5E | c.1780A>C (p.Lys594Gln) c.1678A>C (p.Lys560Gln) c.1777A>C (p.Lys593Gln) n.2385A>C | |
9 | g.136430300C>A | CA467720035 | INPP5E | c.1779G>T (p.Val593=) c.1677G>T (p.Val559=) c.1776G>T (p.Val592=) n.2384G>T | gnomAD v4 |
9 | g.136430300C= | CA1884224140 | INPP5E | c.1779G= (p.Val593=) c.1677G= (p.Val559=) c.1776G= (p.Val592=) n.2384G= | |
9 | g.136430300C>G | CA467720036 | INPP5E | c.1779G>C (p.Val593=) c.1677G>C (p.Val559=) c.1776G>C (p.Val592=) n.2384G>C | |
9 | g.136430300C>T | CA467720037 | INPP5E | c.1779G>A (p.Val593=) c.1677G>A (p.Val559=) c.1776G>A (p.Val592=) n.2384G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136430301A>C | CA375561135 | INPP5E | c.1778T>G (p.Val593Gly) c.1676T>G (p.Val559Gly) c.1775T>G (p.Val592Gly) n.2383T>G | |
9 | g.136430301A>G | CA375561136 | INPP5E | c.1778T>C (p.Val593Ala) c.1676T>C (p.Val559Ala) c.1775T>C (p.Val592Ala) n.2383T>C | gnomAD v4 |
9 | g.136430301A>T | CA375561137 | INPP5E | c.1778T>A (p.Val593Glu) c.1676T>A (p.Val559Glu) c.1775T>A (p.Val592Glu) n.2383T>A | |
9 | g.136430302C>A | CA375561138 | INPP5E | c.1777G>T (p.Val593Leu) c.1675G>T (p.Val559Leu) c.1774G>T (p.Val592Leu) n.2382G>T | gnomAD v4 |
9 | g.136430302C= | CA1884224141 | INPP5E | c.1777G= (p.Val593=) c.1675G= (p.Val559=) c.1774G= (p.Val592=) n.2382G= | |
9 | g.136430302C>G | CA375561139 | INPP5E | c.1777G>C (p.Val593Leu) c.1675G>C (p.Val559Leu) c.1774G>C (p.Val592Leu) n.2382G>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136430302C>T | CA375561140 | INPP5E | c.1777G>A (p.Val593Met) c.1675G>A (p.Val559Met) c.1774G>A (p.Val592Met) n.2382G>A | |
9 | g.136430303C>A | CA467720039 | INPP5E | c.1776G>T (p.Arg592=) c.1674G>T (p.Arg558=) c.1773G>T (p.Arg591=) n.2381G>T | gnomAD v4 |
9 | g.136430303C>G | CA467720040 | INPP5E | c.1776G>C (p.Arg592=) c.1674G>C (p.Arg558=) c.1773G>C (p.Arg591=) n.2381G>C | |
9 | g.136430303C>T | CA467720041 | INPP5E | c.1776G>A (p.Arg592=) c.1674G>A (p.Arg558=) c.1773G>A (p.Arg591=) n.2381G>A | gnomAD v4 |
9 | g.136430304C>A | CA375561141 | INPP5E | c.1775G>T (p.Arg592Leu) c.1673G>T (p.Arg558Leu) c.1772G>T (p.Arg591Leu) n.2380G>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136430304C= | CA1884224142 | INPP5E | c.1775G= (p.Arg592=) c.1673G= (p.Arg558=) c.1772G= (p.Arg591=) n.2380G= | |
9 | g.136430304C>G | CA375561142 | INPP5E | c.1775G>C (p.Arg592Pro) c.1673G>C (p.Arg558Pro) c.1772G>C (p.Arg591Pro) n.2380G>C | |
9 | g.136430304C>T | CA375561143 | INPP5E | c.1775G>A (p.Arg592Gln) c.1673G>A (p.Arg558Gln) c.1772G>A (p.Arg591Gln) n.2380G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |