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 |
|---|---|---|---|---|---|
| 14 | g.49622194T>A | CA389621031 | MGAT2 | c.926T>A (p.Val309Glu) | |
| 14 | g.49622194T>C | CA389621033 | MGAT2 | c.926T>C (p.Val309Ala) | |
| 14 | g.49622194T>G | CA389621035 | MGAT2 | c.926T>G (p.Val309Gly) | gnomAD v4 |
| 14 | g.49622195G>A | CA486349974 | MGAT2 | c.927G>A (p.Val309=) | |
| 14 | g.49622195G>C | CA486349976 | MGAT2 | c.927G>C (p.Val309=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622195G= | CA2135804846 | MGAT2 | c.927G= (p.Val309=) | |
| 14 | g.49622195G>T | CA486349975 | MGAT2 | c.927G>T (p.Val309=) | |
| 14 | g.49622196A>C | CA389621037 | MGAT2 | c.928A>C (p.Lys310Gln) | |
| 14 | g.49622196A>G | CA389621038 | MGAT2 | c.928A>G (p.Lys310Glu) | |
| 14 | g.49622196A>T | CA389621040 | MGAT2 | c.928A>T (p.Lys310Ter) | |
| 14 | g.49622197A>C | CA389621042 | MGAT2 | c.929A>C (p.Lys310Thr) | |
| 14 | g.49622197A>G | CA389621046 | MGAT2 | c.929A>G (p.Lys310Arg) | |
| 14 | g.49622197A>T | CA389621045 | MGAT2 | c.929A>T (p.Lys310Ile) | |
| 14 | g.49622198A>C | CA389621048 | MGAT2 | c.930A>C (p.Lys310Asn) | |
| 14 | g.49622198A>G | CA486349981 | MGAT2 | c.930A>G (p.Lys310=) | |
| 14 | g.49622198A>T | CA389621050 | MGAT2 | c.930A>T (p.Lys310Asn) | |
| 14 | g.49622199A>C | CA389621052 | MGAT2 | c.931A>C (p.Thr311Pro) | |
| 14 | g.49622199A>G | CA389621053 | MGAT2 | c.931A>G (p.Thr311Ala) | |
| 14 | g.49622199A>T | CA389621055 | MGAT2 | c.931A>T (p.Thr311Ser) | |
| 14 | g.49622200C>A | CA389621057 | MGAT2 | c.932C>A (p.Thr311Asn) | |
| 14 | g.49622200C= | CA2135804847 | MGAT2 | c.932C= (p.Thr311=) | |
| 14 | g.49622200C>G | CA389621059 | MGAT2 | c.932C>G (p.Thr311Ser) | |
| 14 | g.49622200C>T | CA260660827 | MGAT2 | c.932C>T (p.Thr311Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49622201T>A | CA486349986 | MGAT2 | c.933T>A (p.Thr311=) | |
| 14 | g.49622201T>C | CA486349988 | MGAT2 | c.933T>C (p.Thr311=) | |
| 14 | g.49622201T>G | CA486349989 | MGAT2 | c.933T>G (p.Thr311=) | |
| 14 | g.49622202T>A | CA389621062 | MGAT2 | c.934T>A (p.Trp312Arg) | |
| 14 | g.49622202T>C | CA389621064 | MGAT2 | c.934T>C (p.Trp312Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622202T>G | CA389621066 | MGAT2 | c.934T>G (p.Trp312Gly) | gnomAD v4 COSMIC |
| 14 | g.49622202T= | CA2135804848 | MGAT2 | c.934T= (p.Trp312=) | |
| 14 | g.49622203G>A | CA389621070 | MGAT2 | c.935G>A (p.Trp312Ter) | |
| 14 | g.49622203G>C | CA389621072 | MGAT2 | c.935G>C (p.Trp312Ser) | gnomAD v4 |
| 14 | g.49622203G>T | CA389621068 | MGAT2 | c.935G>T (p.Trp312Leu) | |
| 14 | g.49622204G>A | CA389621076 | MGAT2 | c.936G>A (p.Trp312Ter) | |
| 14 | g.49622204G>C | CA389621074 | MGAT2 | c.936G>C (p.Trp312Cys) | |
| 14 | g.49622204G>T | CA389621077 | MGAT2 | c.936G>T (p.Trp312Cys) | |
| 14 | g.49622205A>C | CA389621079 | MGAT2 | c.937A>C (p.Lys313Gln) | |
| 14 | g.49622205A>G | CA389621081 | MGAT2 | c.937A>G (p.Lys313Glu) | |
| 14 | g.49622205A>T | CA389621083 | MGAT2 | c.937A>T (p.Lys313Ter) | |
| 14 | g.49622206A>C | CA389621085 | MGAT2 | c.938A>C (p.Lys313Thr) | gnomAD v4 |
| 14 | g.49622206A>G | CA389621086 | MGAT2 | c.938A>G (p.Lys313Arg) | |
| 14 | g.49622206A>T | CA389621088 | MGAT2 | c.938A>T (p.Lys313Ile) | |
| 14 | g.49622207A= | CA2135804849 | MGAT2 | c.939A= (p.Lys313=) | |
| 14 | g.49622207A>C | CA389621089 | MGAT2 | c.939A>C (p.Lys313Asn) | |
| 14 | g.49622207A>G | CA486349996 | MGAT2 | c.939A>G (p.Lys313=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622207A>T | CA389621091 | MGAT2 | c.939A>T (p.Lys313Asn) | |
| 14 | g.49622208T>A | CA389621093 | MGAT2 | c.940T>A (p.Ser314Thr) | |
| 14 | g.49622208T>C | CA389621095 | MGAT2 | c.940T>C (p.Ser314Pro) | |
| 14 | g.49622208T>G | CA389621097 | MGAT2 | c.940T>G (p.Ser314Ala) | |
| 14 | g.49622209C>A | CA389621103 | MGAT2 | c.941C>A (p.Ser314Tyr) | gnomAD v4 |
| 14 | g.49622209C>G | CA389621099 | MGAT2 | c.941C>G (p.Ser314Cys) | |
| 14 | g.49622209C>T | CA389621101 | MGAT2 | c.941C>T (p.Ser314Phe) | |
| 14 | g.49622210C>A | CA486350000 | MGAT2 | c.942C>A (p.Ser314=) | |
| 14 | g.49622210C>G | CA486350004 | MGAT2 | c.942C>G (p.Ser314=) | |
| 14 | g.49622210C>T | CA486350002 | MGAT2 | c.942C>T (p.Ser314=) | |
| 14 | g.49622211A>C | CA389621105 | MGAT2 | c.943A>C (p.Thr315Pro) | |
| 14 | g.49622211A>G | CA389621107 | MGAT2 | c.943A>G (p.Thr315Ala) | gnomAD v4 |
| 14 | g.49622211A>T | CA389621109 | MGAT2 | c.943A>T (p.Thr315Ser) | |
| 14 | g.49622212C>A | CA389621111 | MGAT2 | c.944C>A (p.Thr315Lys) | |
| 14 | g.49622212C>G | CA389621113 | MGAT2 | c.944C>G (p.Thr315Arg) | |
| 14 | g.49622212C>T | CA389621115 | MGAT2 | c.944C>T (p.Thr315Ile) | |
| 14 | g.49622212_49622214delinsCAG | CA2135804851 | MGAT2 | c.944_946delinsCAG (p.Thr315=) | |
| 14 | g.49622213A= | CA2135804852 | MGAT2 | c.945A= (p.Thr315=) | |
| 14 | g.49622213A>C | CA7172622 | MGAT2 | c.945A>C (p.Thr315=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622213A>G | CA486350006 | MGAT2 | c.945A>G (p.Thr315=) | gnomAD v4 |
| 14 | g.49622213A>T | CA486350007 | MGAT2 | c.945A>T (p.Thr315=) | |
| 14 | g.49622215_49622216del | CA7172621 | MGAT2 | c.947_948del (p.Glu316AlafsTer26) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49622214G>A | CA389621119 | MGAT2 | c.946G>A (p.Glu316Lys) | |
| 14 | g.49622214G>C | CA260660831 | MGAT2 | c.946G>C (p.Glu316Gln) | dbSNP gnomAD v4 |
| 14 | g.49622214G= | CA2135804854 | MGAT2 | c.946G= (p.Glu316=) | |
| 14 | g.49622214G>T | CA389621122 | MGAT2 | c.946G>T (p.Glu316Ter) | |
| 14 | g.49622215A>C | CA389621125 | MGAT2 | c.947A>C (p.Glu316Ala) | |
| 14 | g.49622215A>G | CA389621128 | MGAT2 | c.947A>G (p.Glu316Gly) | |
| 14 | g.49622215A>T | CA389621124 | MGAT2 | c.947A>T (p.Glu316Val) | |
| 14 | g.49622216G>A | CA486350008 | MGAT2 | c.948G>A (p.Glu316=) | |
| 14 | g.49622216G>C | CA389621130 | MGAT2 | c.948G>C (p.Glu316Asp) | dbSNP gnomAD v4 |
| 14 | g.49622216G= | CA2135804855 | MGAT2 | c.948G= (p.Glu316=) | |
| 14 | g.49622216G>T | CA389621131 | MGAT2 | c.948G>T (p.Glu316Asp) | |
| 14 | g.49622217C>A | CA389621133 | MGAT2 | c.949C>A (p.His317Asn) | |
| 14 | g.49622217C>G | CA389621135 | MGAT2 | c.949C>G (p.His317Asp) | gnomAD v4 |
| 14 | g.49622217C>T | CA389621137 | MGAT2 | c.949C>T (p.His317Tyr) | |
| 14 | g.49622218A= | CA2135804856 | MGAT2 | c.950A= (p.His317=) | |
| 14 | g.49622218A>C | CA389621139 | MGAT2 | c.950A>C (p.His317Pro) | |
| 14 | g.49622218A>G | CA389621141 | MGAT2 | c.950A>G (p.His317Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622218A>T | CA389621143 | MGAT2 | c.950A>T (p.His317Leu) | |
| 14 | g.49622219C>A | CA389621146 | MGAT2 | c.951C>A (p.His317Gln) | |
| 14 | g.49622219C= | CA2135804857 | MGAT2 | c.951C= (p.His317=) | |
| 14 | g.49622219C>G | CA389621148 | MGAT2 | c.951C>G (p.His317Gln) | |
| 14 | g.49622219C>T | CA486350012 | MGAT2 | c.951C>T (p.His317=) | dbSNP gnomAD v4 |
| 14 | g.49622220A= | CA2135804858 | MGAT2 | c.952A= (p.Asn318=) | |
| 14 | g.49622220A>C | CA389621150 | MGAT2 | c.952A>C (p.Asn318His) | |
| 14 | g.49622220A>G | CA254038 | MGAT2 | c.952A>G (p.Asn318Asp) | ClinVar dbSNP |
| 14 | g.49622220A>T | CA389621153 | MGAT2 | c.952A>T (p.Asn318Tyr) | |
| 14 | g.49622221A= | CA2135804860 | MGAT2 | c.953A= (p.Asn318=) | |
| 14 | g.49622221A>C | CA389621158 | MGAT2 | c.953A>C (p.Asn318Thr) | |
| 14 | g.49622221A>G | CA7172623 | MGAT2 | c.953A>G (p.Asn318Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622221A>T | CA389621156 | MGAT2 | c.953A>T (p.Asn318Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622221_49622222delinsAT | CA2135804859 | MGAT2 | c.953_954delinsAT (p.Asn318=) | |
| 14 | g.49622222del | CA7172624 | MGAT2 | c.954del (p.Asn318LysfsTer4) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49622222T>A | CA389621161 | MGAT2 | c.954T>A (p.Asn318Lys) | |
| 14 | g.49622222T>C | CA7172625 | MGAT2 | c.954T>C (p.Asn318=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622222T>G | CA389621164 | MGAT2 | c.954T>G (p.Asn318Lys) | |
| 14 | g.49622222T= | CA2135804861 | MGAT2 | c.954T= (p.Asn318=) | |
| 14 | g.49622223A>C | CA389621166 | MGAT2 | c.955A>C (p.Met319Leu) | |
| 14 | g.49622223A>G | CA389621168 | MGAT2 | c.955A>G (p.Met319Val) | |
| 14 | g.49622223A>T | CA389621169 | MGAT2 | c.955A>T (p.Met319Leu) | |
| 14 | g.49622224T>A | CA389621172 | MGAT2 | c.956T>A (p.Met319Lys) | |
| 14 | g.49622224T>C | CA389621174 | MGAT2 | c.956T>C (p.Met319Thr) | |
| 14 | g.49622224T>G | CA389621176 | MGAT2 | c.956T>G (p.Met319Arg) | |
| 14 | g.49622225G>A | CA389621179 | MGAT2 | c.957G>A (p.Met319Ile) | |
| 14 | g.49622225G>C | CA389621181 | MGAT2 | c.957G>C (p.Met319Ile) | |
| 14 | g.49622225G>T | CA389621182 | MGAT2 | c.957G>T (p.Met319Ile) | |
| 14 | g.49622226G>A | CA389621185 | MGAT2 | c.958G>A (p.Gly320Ser) | |
| 14 | g.49622226G>C | CA389621187 | MGAT2 | c.958G>C (p.Gly320Arg) | |
| 14 | g.49622226G>T | CA389621184 | MGAT2 | c.958G>T (p.Gly320Cys) | |
| 14 | g.49622227G>A | CA389621192 | MGAT2 | c.959G>A (p.Gly320Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49622227G>C | CA389621189 | MGAT2 | c.959G>C (p.Gly320Ala) | |
| 14 | g.49622227G= | CA2135804862 | MGAT2 | c.959G= (p.Gly320=) | |
| 14 | g.49622227G>T | CA389621191 | MGAT2 | c.959G>T (p.Gly320Val) | |
| 14 | g.49622228T>A | CA486350026 | MGAT2 | c.960T>A (p.Gly320=) | |
| 14 | g.49622228T>C | CA486350028 | MGAT2 | c.960T>C (p.Gly320=) | |
| 14 | g.49622228T>G | CA486350030 | MGAT2 | c.960T>G (p.Gly320=) | |
| 14 | g.49622229C>A | CA389621194 | MGAT2 | c.961C>A (p.Leu321Ile) | |
| 14 | g.49622229C>G | CA389621196 | MGAT2 | c.961C>G (p.Leu321Val) | |
| 14 | g.49622229C>T | CA486350032 | MGAT2 | c.961C>T (p.Leu321=) | gnomAD v4 |
| 14 | g.49622230T>A | CA389621201 | MGAT2 | c.962T>A (p.Leu321Gln) | |
| 14 | g.49622230T>C | CA260660840 | MGAT2 | c.962T>C (p.Leu321Pro) | dbSNP |
| 14 | g.49622230T>G | CA389621204 | MGAT2 | c.962T>G (p.Leu321Arg) | |
| 14 | g.49622230T= | CA2135804863 | MGAT2 | c.962T= (p.Leu321=) | |
| 14 | g.49622231A>C | CA486350033 | MGAT2 | c.963A>C (p.Leu321=) | |
| 14 | g.49622231A>G | CA486350034 | MGAT2 | c.963A>G (p.Leu321=) | |
| 14 | g.49622231A>T | CA486350035 | MGAT2 | c.963A>T (p.Leu321=) | |
| 14 | g.49622232G>A | CA389621206 | MGAT2 | c.964G>A (p.Ala322Thr) | |
| 14 | g.49622232G>C | CA389621208 | MGAT2 | c.964G>C (p.Ala322Pro) | |
| 14 | g.49622232G>T | CA389621210 | MGAT2 | c.964G>T (p.Ala322Ser) | |
| 14 | g.49622233C>A | CA389621217 | MGAT2 | c.965C>A (p.Ala322Asp) | gnomAD v4 |
| 14 | g.49622233C= | CA2135804864 | MGAT2 | c.965C= (p.Ala322=) | |
| 14 | g.49622233C>G | CA389621219 | MGAT2 | c.965C>G (p.Ala322Gly) | |
| 14 | g.49622233C>T | CA260660843 | MGAT2 | c.965C>T (p.Ala322Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622234C>A | CA486350041 | MGAT2 | c.966C>A (p.Ala322=) | |
| 14 | g.49622234C>G | CA486350039 | MGAT2 | c.966C>G (p.Ala322=) | |
| 14 | g.49622234C>T | CA486350038 | MGAT2 | c.966C>T (p.Ala322=) | |
| 14 | g.49622235T>A | CA389621223 | MGAT2 | c.967T>A (p.Leu323Met) | |
| 14 | g.49622235T>C | CA486350042 | MGAT2 | c.967T>C (p.Leu323=) | |
| 14 | g.49622235T>G | CA389621221 | MGAT2 | c.967T>G (p.Leu323Val) | gnomAD v4 |
| 14 | g.49622236T>A | CA389621225 | MGAT2 | c.968T>A (p.Leu323Ter) | |
| 14 | g.49622236T>C | CA389621227 | MGAT2 | c.968T>C (p.Leu323Ser) | |
| 14 | g.49622236T>G | CA389621228 | MGAT2 | c.968T>G (p.Leu323Trp) | |
| 14 | g.49622237G>A | CA486350048 | MGAT2 | c.969G>A (p.Leu323=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622237G>C | CA389621231 | MGAT2 | c.969G>C (p.Leu323Phe) | |
| 14 | g.49622237G= | CA2135804865 | MGAT2 | c.969G= (p.Leu323=) | |
| 14 | g.49622237G>T | CA389621232 | MGAT2 | c.969G>T (p.Leu323Phe) | |
| 14 | g.49622238A>C | CA389621235 | MGAT2 | c.970A>C (p.Thr324Pro) | |
| 14 | g.49622238A>G | CA389621236 | MGAT2 | c.970A>G (p.Thr324Ala) | |
| 14 | g.49622238A>T | CA389621238 | MGAT2 | c.970A>T (p.Thr324Ser) | |
| 14 | g.49622239C>A | CA389621240 | MGAT2 | c.971C>A (p.Thr324Asn) | |
| 14 | g.49622239C= | CA2135804866 | MGAT2 | c.971C= (p.Thr324=) | |
| 14 | g.49622239C>G | CA7172626 | MGAT2 | c.971C>G (p.Thr324Ser) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 14 | g.49622239C>T | CA389621243 | MGAT2 | c.971C>T (p.Thr324Ile) | gnomAD v4 |
| 14 | g.49622241dup | CA486350054 | MGAT2 | c.973dup (p.Arg325ProfsTer18) | COSMIC |
| 14 | g.49622240C>A | CA486350056 | MGAT2 | c.972C>A (p.Thr324=) | |
| 14 | g.49622240C= | CA2135804867 | MGAT2 | c.972C= (p.Thr324=) | |
| 14 | g.49622240C>G | CA486350058 | MGAT2 | c.972C>G (p.Thr324=) | |
| 14 | g.49622240C>T | CA486350057 | MGAT2 | c.972C>T (p.Thr324=) | dbSNP |
| 14 | g.49622241C>A | CA486350059 | MGAT2 | c.973C>A (p.Arg325=) | |
| 14 | g.49622241C>G | CA389621245 | MGAT2 | c.973C>G (p.Arg325Gly) | |
| 14 | g.49622241C>T | CA389621247 | MGAT2 | c.973C>T (p.Arg325Trp) | |
| 14 | g.49622242G>A | CA389621251 | MGAT2 | c.974G>A (p.Arg325Gln) | |
| 14 | g.49622242G>C | CA389621253 | MGAT2 | c.974G>C (p.Arg325Pro) | |
| 14 | g.49622242G>T | CA389621249 | MGAT2 | c.974G>T (p.Arg325Leu) | |
| 14 | g.49622243dup | CA2624726695 | MGAT2 | c.975dup (p.Asn326GlufsTer17) | gnomAD v4 |
| 14 | g.49622243G>A | CA486350061 | MGAT2 | c.975G>A (p.Arg325=) | gnomAD v4 |
| 14 | g.49622243G>C | CA486350063 | MGAT2 | c.975G>C (p.Arg325=) | gnomAD v4 |
| 14 | g.49622243G>T | CA486350066 | MGAT2 | c.975G>T (p.Arg325=) | |
| 14 | g.49622244A>C | CA389621256 | MGAT2 | c.976A>C (p.Asn326His) | |
| 14 | g.49622244A>G | CA389621258 | MGAT2 | c.976A>G (p.Asn326Asp) | |
| 14 | g.49622244A>T | CA389621259 | MGAT2 | c.976A>T (p.Asn326Tyr) | |
| 14 | g.49622245A>C | CA389621262 | MGAT2 | c.977A>C (p.Asn326Thr) | |
| 14 | g.49622245A>G | CA389621264 | MGAT2 | c.977A>G (p.Asn326Ser) | gnomAD v4 |
| 14 | g.49622245A>T | CA389621265 | MGAT2 | c.977A>T (p.Asn326Ile) | |
| 14 | g.49622246T>A | CA389621270 | MGAT2 | c.978T>A (p.Asn326Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622246T>C | CA486350072 | MGAT2 | c.978T>C (p.Asn326=) | |
| 14 | g.49622246T>G | CA389621269 | MGAT2 | c.978T>G (p.Asn326Lys) | |
| 14 | g.49622246T= | CA2135804868 | MGAT2 | c.978T= (p.Asn326=) | |
| 14 | g.49622247G>A | CA389621275 | MGAT2 | c.979G>A (p.Ala327Thr) | |
| 14 | g.49622247G>C | CA389621276 | MGAT2 | c.979G>C (p.Ala327Pro) | |
| 14 | g.49622247G>T | CA389621277 | MGAT2 | c.979G>T (p.Ala327Ser) | |
| 14 | g.49622248C>A | CA389621278 | MGAT2 | c.980C>A (p.Ala327Asp) | |
| 14 | g.49622248C= | CA2135804869 | MGAT2 | c.980C= (p.Ala327=) | |
| 14 | g.49622248C>G | CA389621280 | MGAT2 | c.980C>G (p.Ala327Gly) | dbSNP |
| 14 | g.49622248C>T | CA389621281 | MGAT2 | c.980C>T (p.Ala327Val) | |
| 14 | g.49622249C>A | CA486350086 | MGAT2 | c.981C>A (p.Ala327=) | |
| 14 | g.49622249C= | CA2135804870 | MGAT2 | c.981C= (p.Ala327=) | |
| 14 | g.49622249C>G | CA486350087 | MGAT2 | c.981C>G (p.Ala327=) | |
| 14 | g.49622249C>T | CA7172627 | MGAT2 | c.981C>T (p.Ala327=) | dbSNP ExAC gnomAD v4 |
| 14 | g.49622250T>A | CA389621283 | MGAT2 | c.982T>A (p.Tyr328Asn) | |
| 14 | g.49622250T>C | CA389621290 | MGAT2 | c.982T>C (p.Tyr328His) | |
| 14 | g.49622250T>G | CA389621288 | MGAT2 | c.982T>G (p.Tyr328Asp) | |
| 14 | g.49622251A= | CA2135804871 | MGAT2 | c.983A= (p.Tyr328=) | |
| 14 | g.49622251A>C | CA389621292 | MGAT2 | c.983A>C (p.Tyr328Ser) | |
| 14 | g.49622251A>G | CA260660851 | MGAT2 | c.983A>G (p.Tyr328Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622251A>T | CA389621293 | MGAT2 | c.983A>T (p.Tyr328Phe) | |
| 14 | g.49622252T>A | CA389621294 | MGAT2 | c.984T>A (p.Tyr328Ter) | |
| 14 | g.49622252T>C | CA486350092 | MGAT2 | c.984T>C (p.Tyr328=) | |
| 14 | g.49622252T>G | CA389621295 | MGAT2 | c.984T>G (p.Tyr328Ter) | |
| 14 | g.49622253C>A | CA389621296 | MGAT2 | c.985C>A (p.Gln329Lys) | |
| 14 | g.49622253C>G | CA389621298 | MGAT2 | c.985C>G (p.Gln329Glu) | gnomAD v4 |
| 14 | g.49622253C>T | CA389621299 | MGAT2 | c.985C>T (p.Gln329Ter) | |
| 14 | g.49622254A>C | CA389621300 | MGAT2 | c.986A>C (p.Gln329Pro) | |
| 14 | g.49622254A>G | CA389621301 | MGAT2 | c.986A>G (p.Gln329Arg) | |
| 14 | g.49622254A>T | CA389621302 | MGAT2 | c.986A>T (p.Gln329Leu) | |
| 14 | g.49622255G>A | CA486350099 | MGAT2 | c.987G>A (p.Gln329=) | |
| 14 | g.49622255G>C | CA389621303 | MGAT2 | c.987G>C (p.Gln329His) | |
| 14 | g.49622255G>T | CA389621304 | MGAT2 | c.987G>T (p.Gln329His) | |
| 14 | g.49622256A>C | CA389621306 | MGAT2 | c.988A>C (p.Lys330Gln) | COSMIC |
| 14 | g.49622256A>G | CA389621307 | MGAT2 | c.988A>G (p.Lys330Glu) | |
| 14 | g.49622256A>T | CA389621305 | MGAT2 | c.988A>T (p.Lys330Ter) | |
| 14 | g.49622257A>C | CA389621309 | MGAT2 | c.989A>C (p.Lys330Thr) | |
| 14 | g.49622257A>G | CA389621308 | MGAT2 | c.989A>G (p.Lys330Arg) | |
| 14 | g.49622257A>T | CA389621310 | MGAT2 | c.989A>T (p.Lys330Met) | gnomAD v4 |
| 14 | g.49622258G>A | CA486350107 | MGAT2 | c.990G>A (p.Lys330=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49622258G>C | CA7172628 | MGAT2 | c.990G>C (p.Lys330Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622258G= | CA2135804872 | MGAT2 | c.990G= (p.Lys330=) | |
| 14 | g.49622258G>T | CA389621311 | MGAT2 | c.990G>T (p.Lys330Asn) | |
| 14 | g.49622259C>A | CA389621312 | MGAT2 | c.991C>A (p.Leu331Met) | |
| 14 | g.49622259C>G | CA389621313 | MGAT2 | c.991C>G (p.Leu331Val) | gnomAD v4 |
| 14 | g.49622259C>T | CA486350110 | MGAT2 | c.991C>T (p.Leu331=) | |
| 14 | g.49622260T>A | CA389621314 | MGAT2 | c.992T>A (p.Leu331Gln) | |
| 14 | g.49622260T>C | CA389621315 | MGAT2 | c.992T>C (p.Leu331Pro) | gnomAD v4 |
| 14 | g.49622260T>G | CA389621316 | MGAT2 | c.992T>G (p.Leu331Arg) | |
| 14 | g.49622261G>A | CA486350113 | MGAT2 | c.993G>A (p.Leu331=) | gnomAD v4 |
| 14 | g.49622261G>C | CA486350117 | MGAT2 | c.993G>C (p.Leu331=) | |
| 14 | g.49622261G= | CA2135804873 | MGAT2 | c.993G= (p.Leu331=) | |
| 14 | g.49622261G>T | CA486350115 | MGAT2 | c.993G>T (p.Leu331=) | |
| 14 | g.49622261_49622262insCGACTGGCACT | CA2135804874 | MGAT2 | c.993_994insCGACTGGCACT (p.Ile332ArgfsTer26) | dbSNP |
| 14 | g.49622262A>C | CA389621317 | MGAT2 | c.994A>C (p.Ile332Leu) | |
| 14 | g.49622262A>G | CA389621319 | MGAT2 | c.994A>G (p.Ile332Val) | |
| 14 | g.49622262A>T | CA389621318 | MGAT2 | c.994A>T (p.Ile332Phe) | |
| 14 | g.49622263T>A | CA389621320 | MGAT2 | c.995T>A (p.Ile332Asn) | |
| 14 | g.49622263T>C | CA389621321 | MGAT2 | c.995T>C (p.Ile332Thr) | |
| 14 | g.49622263T>G | CA389621322 | MGAT2 | c.995T>G (p.Ile332Ser) | |
| 14 | g.49622264C>A | CA486350121 | MGAT2 | c.996C>A (p.Ile332=) | |
| 14 | g.49622264C>G | CA389621323 | MGAT2 | c.996C>G (p.Ile332Met) | |
| 14 | g.49622264C>T | CA486350122 | MGAT2 | c.996C>T (p.Ile332=) | |
| 14 | g.49622265G>A | CA389621326 | MGAT2 | c.997G>A (p.Glu333Lys) | gnomAD v4 |
| 14 | g.49622265G>C | CA389621324 | MGAT2 | c.997G>C (p.Glu333Gln) | gnomAD v4 COSMIC |
| 14 | g.49622265G>T | CA389621325 | MGAT2 | c.997G>T (p.Glu333Ter) | COSMIC |
| 14 | g.49622266A>C | CA389621327 | MGAT2 | c.998A>C (p.Glu333Ala) | |
| 14 | g.49622266A>G | CA389621328 | MGAT2 | c.998A>G (p.Glu333Gly) | |
| 14 | g.49622266A>T | CA389621329 | MGAT2 | c.998A>T (p.Glu333Val) | |
| 14 | g.49622267G>A | CA486350126 | MGAT2 | c.999G>A (p.Glu333=) | |
| 14 | g.49622267G>C | CA389621330 | MGAT2 | c.999G>C (p.Glu333Asp) | |
| 14 | g.49622267G>T | CA389621331 | MGAT2 | c.999G>T (p.Glu333Asp) | |
| 14 | g.49622267_49622268insGAGGCAGCATGGCGACTGATCTATCAGACCGAGGGGAAGCAGAGGTAGAAGACCTCATCCACCACGGTGTAAAAGGCCAGAAATGGGGCGTCATCCGCAAGAAGGCTAGTGCTGGTCGAAAGGCCACCA | CA2567203537 | MGAT2 | c.999_1000insGAGGCAGCATGGCGACTGATCTATCAGACCGAGGGGAAGCAGAGGTAGAAGACCTCATCCACCACGGTGTAAAAGGCCAGAAATGGGGCGTCATCCGCAAGAAGGCTAGTGCTGGTCGAAAGGCCACCA | |
| 14 | g.49622267_49622268insGAGGCAGCATGGCGACTGATTTATCAGACCGAGGGGAAGCAGAGGTAGAAGACCTCATTCACCATGGCGTAAAAGGCCAGAAATGGGGCGTCATCCGCAAGAAGGCTAGCGCTGGTCGGAAGGCCACCA | CA2504176736 | MGAT2 | c.999_1000insGAGGCAGCATGGCGACTGATTTATCAGACCGAGGGGAAGCAGAGGTAGAAGACCTCATTCACCATGGCGTAAAAGGCCAGAAATGGGGCGTCATCCGCAAGAAGGCTAGCGCTGGTCGGAAGGCCACCA | |
| 14 | g.49622268T>A | CA389621332 | MGAT2 | c.1000T>A (p.Cys334Ser) | |
| 14 | g.49622268T>C | CA389621333 | MGAT2 | c.1000T>C (p.Cys334Arg) | |
| 14 | g.49622268T>G | CA389621334 | MGAT2 | c.1000T>G (p.Cys334Gly) | |
| 14 | g.49622269G>A | CA389621335 | MGAT2 | c.1001G>A (p.Cys334Tyr) | |
| 14 | g.49622269G>C | CA389621336 | MGAT2 | c.1001G>C (p.Cys334Ser) | |
| 14 | g.49622269G>T | CA389621337 | MGAT2 | c.1001G>T (p.Cys334Phe) | |
| 14 | g.49622270C>A | CA389621338 | MGAT2 | c.1002C>A (p.Cys334Ter) | |
| 14 | g.49622270C>G | CA389621339 | MGAT2 | c.1002C>G (p.Cys334Trp) | |
| 14 | g.49622270C>T | CA486350135 | MGAT2 | c.1002C>T (p.Cys334=) | gnomAD v4 |
| 14 | g.49622270_49622274delinsCACAG | CA2135804875 | MGAT2 | c.1002_1006delinsCACAG (p.Cys334=) | |
| 14 | g.49622271A= | CA2135804876 | MGAT2 | c.1003A= (p.Thr335=) | |
| 14 | g.49622271A>C | CA389621341 | MGAT2 | c.1003A>C (p.Thr335Pro) | |
| 14 | g.49622271A>G | CA7172630 | MGAT2 | c.1003A>G (p.Thr335Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622271A>T | CA389621340 | MGAT2 | c.1003A>T (p.Thr335Ser) | |
| 14 | g.49622274_49622277del | CA7172629 | MGAT2 | c.1006_1009del (p.Asp336LeufsTer17) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49622272C>A | CA389621344 | MGAT2 | c.1004C>A (p.Thr335Lys) | |
| 14 | g.49622272C= | CA2135804877 | MGAT2 | c.1004C= (p.Thr335=) | |
| 14 | g.49622272C>G | CA389621342 | MGAT2 | c.1004C>G (p.Thr335Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622272C>T | CA389621343 | MGAT2 | c.1004C>T (p.Thr335Ile) | |
| 14 | g.49622273A>C | CA486350141 | MGAT2 | c.1005A>C (p.Thr335=) | |
| 14 | g.49622273A>G | CA486350142 | MGAT2 | c.1005A>G (p.Thr335=) | |
| 14 | g.49622273A>T | CA486350143 | MGAT2 | c.1005A>T (p.Thr335=) | |
| 14 | g.49622274G>A | CA389621345 | MGAT2 | c.1006G>A (p.Asp336Asn) | |
| 14 | g.49622274G>C | CA389621346 | MGAT2 | c.1006G>C (p.Asp336His) | |
| 14 | g.49622274G>T | CA389621347 | MGAT2 | c.1006G>T (p.Asp336Tyr) | |
| 14 | g.49622275A>C | CA389621348 | MGAT2 | c.1007A>C (p.Asp336Ala) | |
| 14 | g.49622275A>G | CA389621349 | MGAT2 | c.1007A>G (p.Asp336Gly) | |
| 14 | g.49622275A>T | CA389621350 | MGAT2 | c.1007A>T (p.Asp336Val) | |
| 14 | g.49622276C>A | CA389621351 | MGAT2 | c.1008C>A (p.Asp336Glu) | |
| 14 | g.49622276C= | CA2135804878 | MGAT2 | c.1008C= (p.Asp336=) | |
| 14 | g.49622276C>G | CA389621352 | MGAT2 | c.1008C>G (p.Asp336Glu) | |
| 14 | g.49622276C>T | CA486350152 | MGAT2 | c.1008C>T (p.Asp336=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622277A= | CA2135804879 | MGAT2 | c.1009A= (p.Thr337=) | |
| 14 | g.49622277A>C | CA389621353 | MGAT2 | c.1009A>C (p.Thr337Pro) | |
| 14 | g.49622277A>G | CA389621354 | MGAT2 | c.1009A>G (p.Thr337Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622277A>T | CA389621355 | MGAT2 | c.1009A>T (p.Thr337Ser) | |
| 14 | g.49622278C>A | CA389621356 | MGAT2 | c.1010C>A (p.Thr337Asn) | |
| 14 | g.49622278C>G | CA389621358 | MGAT2 | c.1010C>G (p.Thr337Ser) | |
| 14 | g.49622278C>T | CA389621357 | MGAT2 | c.1010C>T (p.Thr337Ile) | gnomAD v4 |
| 14 | g.49622279T>A | CA486350157 | MGAT2 | c.1011T>A (p.Thr337=) | |
| 14 | g.49622279T>C | CA486350159 | MGAT2 | c.1011T>C (p.Thr337=) | |
| 14 | g.49622279T>G | CA486350160 | MGAT2 | c.1011T>G (p.Thr337=) | |
| 14 | g.49622281dup | CA2575517490 | MGAT2 | c.1013dup (p.Cys339LeufsTer4) | |
| 14 | g.49622280T>A | CA389621359 | MGAT2 | c.1012T>A (p.Phe338Ile) | |
| 14 | g.49622280T>C | CA389621360 | MGAT2 | c.1012T>C (p.Phe338Leu) | |
| 14 | g.49622280T>G | CA389621361 | MGAT2 | c.1012T>G (p.Phe338Val) | |
| 14 | g.49622281T>A | CA389621362 | MGAT2 | c.1013T>A (p.Phe338Tyr) | |
| 14 | g.49622281T>C | CA389621363 | MGAT2 | c.1013T>C (p.Phe338Ser) | gnomAD v4 |
| 14 | g.49622281T>G | CA389621364 | MGAT2 | c.1013T>G (p.Phe338Cys) | |
| 14 | g.49622282C>A | CA389621365 | MGAT2 | c.1014C>A (p.Phe338Leu) | |
| 14 | g.49622282C>G | CA389621366 | MGAT2 | c.1014C>G (p.Phe338Leu) | |
| 14 | g.49622282C>T | CA486350162 | MGAT2 | c.1014C>T (p.Phe338=) | |
| 14 | g.49622284_49622288del | CA2580088147 | MGAT2 | c.1016_1020del (p.Cys339LeufsTer2) | ClinVar |
| 14 | g.49622283T>A | CA389621367 | MGAT2 | c.1015T>A (p.Cys339Ser) | |
| 14 | g.49622283T>C | CA389621368 | MGAT2 | c.1015T>C (p.Cys339Arg) | |
| 14 | g.49622283T>G | CA389621369 | MGAT2 | c.1015T>G (p.Cys339Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49622283T= | CA2135804880 | MGAT2 | c.1015T= (p.Cys339=) | |
| 14 | g.49622284G>A | CA389621371 | MGAT2 | c.1016G>A (p.Cys339Tyr) | |
| 14 | g.49622284G>C | CA389621372 | MGAT2 | c.1016G>C (p.Cys339Ser) | gnomAD v4 |
| 14 | g.49622284G>T | CA389621370 | MGAT2 | c.1016G>T (p.Cys339Phe) | |
| 14 | g.49622285T>A | CA254039 | MGAT2 | c.1017T>A (p.Cys339Ter) | ClinVar dbSNP |
| 14 | g.49622285T>C | CA486350167 | MGAT2 | c.1017T>C (p.Cys339=) | |
| 14 | g.49622285T>G | CA389621373 | MGAT2 | c.1017T>G (p.Cys339Trp) | |
| 14 | g.49622285T= | CA2135804881 | MGAT2 | c.1017T= (p.Cys339=) | |
| 14 | g.49622286A>C | CA389621374 | MGAT2 | c.1018A>C (p.Thr340Pro) | |
| 14 | g.49622286A>G | CA389621375 | MGAT2 | c.1018A>G (p.Thr340Ala) | |
| 14 | g.49622286A>T | CA389621376 | MGAT2 | c.1018A>T (p.Thr340Ser) | |
| 14 | g.49622287C>A | CA389621377 | MGAT2 | c.1019C>A (p.Thr340Asn) | dbSNP |
| 14 | g.49622287C= | CA2135804882 | MGAT2 | c.1019C= (p.Thr340=) | |
| 14 | g.49622287C>G | CA389621378 | MGAT2 | c.1019C>G (p.Thr340Ser) | |
| 14 | g.49622287C>T | CA389621379 | MGAT2 | c.1019C>T (p.Thr340Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622288T>A | CA486350169 | MGAT2 | c.1020T>A (p.Thr340=) | |
| 14 | g.49622288T>C | CA486350170 | MGAT2 | c.1020T>C (p.Thr340=) | |
| 14 | g.49622288T>G | CA486350171 | MGAT2 | c.1020T>G (p.Thr340=) | |
| 14 | g.49622289T>A | CA389621380 | MGAT2 | c.1021T>A (p.Tyr341Asn) | |
| 14 | g.49622289T>C | CA389621381 | MGAT2 | c.1021T>C (p.Tyr341His) | |
| 14 | g.49622289T>G | CA389621382 | MGAT2 | c.1021T>G (p.Tyr341Asp) | |
| 14 | g.49622289T= | CA2135804883 | MGAT2 | c.1021T= (p.Tyr341=) | |
| 14 | g.49622289_49622290insG | CA2624726696 | MGAT2 | c.1021_1022insG (p.Tyr341Ter) | gnomAD v4 |
| 14 | g.49622290A= | CA2135804884 | MGAT2 | c.1022A= (p.Tyr341=) | |
| 14 | g.49622290A>C | CA389621383 | MGAT2 | c.1022A>C (p.Tyr341Ser) | |
| 14 | g.49622290A>G | CA389621384 | MGAT2 | c.1022A>G (p.Tyr341Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622290A>T | CA389621385 | MGAT2 | c.1022A>T (p.Tyr341Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622290dup | CA614273683 | MGAT2 | c.1022dup (p.Tyr341Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622295_49622297del | CA2575517491 | MGAT2 | c.1027_1029del (p.Asp343del) | gnomAD v4 |
| 14 | g.49622291T>A | CA260660860 | MGAT2 | c.1023T>A (p.Tyr341Ter) | dbSNP gnomAD v4 |
| 14 | g.49622291T>C | CA7172631 | MGAT2 | c.1023T>C (p.Tyr341=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622291T>G | CA389621386 | MGAT2 | c.1023T>G (p.Tyr341Ter) | dbSNP gnomAD v4 |
| 14 | g.49622291T= | CA2135804885 | MGAT2 | c.1023T= (p.Tyr341=) | |
| 14 | g.49622292G>A | CA389621387 | MGAT2 | c.1024G>A (p.Asp342Asn) | gnomAD v4 |
| 14 | g.49622292G>C | CA389621388 | MGAT2 | c.1024G>C (p.Asp342His) | |
| 14 | g.49622292G>T | CA389621389 | MGAT2 | c.1024G>T (p.Asp342Tyr) | |
| 14 | g.49622293A>C | CA389621390 | MGAT2 | c.1025A>C (p.Asp342Ala) | COSMIC |
| 14 | g.49622293A>G | CA389621391 | MGAT2 | c.1025A>G (p.Asp342Gly) | |
| 14 | g.49622293A>T | CA389621392 | MGAT2 | c.1025A>T (p.Asp342Val) | |
| 14 | g.49622294T>A | CA389621393 | MGAT2 | c.1026T>A (p.Asp342Glu) | |
| 14 | g.49622294T>C | CA486350184 | MGAT2 | c.1026T>C (p.Asp342=) | |
| 14 | g.49622294T>G | CA389621394 | MGAT2 | c.1026T>G (p.Asp342Glu) |