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 |
|---|---|---|---|---|---|
| 7 | g.24717293C>A | CA367047949 | GSDME | c.658G>T (p.Gly220Cys) c.166G>T (p.Gly56Cys) n.427G>T c.132G>T n.353G>T c.427G>T (p.Gly143Cys) c.24G>T n.677G>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.24717293C= | CA1695069089 | GSDME | c.658G= (p.Gly220=) c.166G= (p.Gly56=) n.427G= c.132G= n.353G= c.427G= (p.Gly143=) c.24G= n.677G= | |
| 7 | g.24717293C>G | CA367047950 | GSDME | c.658G>C (p.Gly220Arg) c.166G>C (p.Gly56Arg) n.427G>C c.132G>C n.353G>C c.427G>C (p.Gly143Arg) c.24G>C n.677G>C | |
| 7 | g.24717293C>T | CA248781 | GSDME | c.658G>A (p.Gly220Ser) c.166G>A (p.Gly56Ser) n.427G>A c.132G>A n.353G>A c.427G>A (p.Gly143Ser) c.24G>A n.677G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.24717294G>A | CA4191660 | GSDME | c.657C>T (p.Tyr219=) c.165C>T (p.Tyr55=) n.426C>T c.131C>T n.352C>T c.426C>T (p.Tyr142=) c.23C>T n.676C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.24717294G>C | CA367047952 | GSDME | c.657C>G (p.Tyr219Ter) c.165C>G (p.Tyr55Ter) n.426C>G c.131C>G n.352C>G c.426C>G (p.Tyr142Ter) c.23C>G n.676C>G | |
| 7 | g.24717294G= | CA1695069093 | GSDME | c.657C= (p.Tyr219=) c.165C= (p.Tyr55=) n.426C= c.131C= n.352C= c.426C= (p.Tyr142=) c.23C= n.676C= | |
| 7 | g.24717294G>T | CA367047951 | GSDME | c.657C>A (p.Tyr219Ter) c.165C>A (p.Tyr55Ter) n.426C>A c.131C>A n.352C>A c.426C>A (p.Tyr142Ter) c.23C>A n.676C>A | gnomAD v4 |
| 7 | g.24717295T>A | CA367047953 | GSDME | c.656A>T (p.Tyr219Phe) c.164A>T (p.Tyr55Phe) n.425A>T c.130A>T n.351A>T c.425A>T (p.Tyr142Phe) c.22A>T n.675A>T | |
| 7 | g.24717295T>C | CA367047954 | GSDME | c.656A>G (p.Tyr219Cys) c.164A>G (p.Tyr55Cys) n.425A>G c.130A>G n.351A>G c.425A>G (p.Tyr142Cys) c.22A>G n.675A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.24717295T>G | CA367047955 | GSDME | c.656A>C (p.Tyr219Ser) c.164A>C (p.Tyr55Ser) n.425A>C c.130A>C n.351A>C c.425A>C (p.Tyr142Ser) c.22A>C n.675A>C | |
| 7 | g.24717295T= | CA1695069097 | GSDME | c.656A= (p.Tyr219=) c.164A= (p.Tyr55=) n.425A= c.130A= n.351A= c.425A= (p.Tyr142=) c.22A= n.675A= | |
| 7 | g.24717296A>C | CA367047956 | GSDME | c.655T>G (p.Tyr219Asp) c.163T>G (p.Tyr55Asp) n.424T>G c.129T>G n.350T>G c.424T>G (p.Tyr142Asp) c.21T>G n.674T>G | |
| 7 | g.24717296A>G | CA367047957 | GSDME | c.655T>C (p.Tyr219His) c.163T>C (p.Tyr55His) n.424T>C c.129T>C n.350T>C c.424T>C (p.Tyr142His) c.21T>C n.674T>C | |
| 7 | g.24717296A>T | CA367047958 | GSDME | c.655T>A (p.Tyr219Asn) c.163T>A (p.Tyr55Asn) n.424T>A c.129T>A n.350T>A c.424T>A (p.Tyr142Asn) c.21T>A n.674T>A | |
| 7 | g.24717297G>A | CA454021265 | GSDME | c.654C>T (p.Ala218=) c.162C>T (p.Ala54=) n.423C>T c.128C>T n.349C>T c.423C>T (p.Ala141=) c.20C>T n.673C>T | |
| 7 | g.24717297G>C | CA454021266 | GSDME | c.654C>G (p.Ala218=) c.162C>G (p.Ala54=) n.423C>G c.128C>G n.349C>G c.423C>G (p.Ala141=) c.20C>G n.673C>G | |
| 7 | g.24717297G>T | CA454021267 | GSDME | c.654C>A (p.Ala218=) c.162C>A (p.Ala54=) n.423C>A c.128C>A n.349C>A c.423C>A (p.Ala141=) c.20C>A n.673C>A | |
| 7 | g.24717298G>A | CA367047959 | GSDME | c.653C>T (p.Ala218Val) c.161C>T (p.Ala54Val) n.422C>T c.127C>T n.348C>T c.422C>T (p.Ala141Val) c.19C>T n.672C>T | gnomAD v4 |
| 7 | g.24717298G>C | CA367047961 | GSDME | c.653C>G (p.Ala218Gly) c.161C>G (p.Ala54Gly) n.422C>G c.127C>G n.348C>G c.422C>G (p.Ala141Gly) c.19C>G n.672C>G | |
| 7 | g.24717298G>T | CA367047960 | GSDME | c.653C>A (p.Ala218Asp) c.161C>A (p.Ala54Asp) n.422C>A c.127C>A n.348C>A c.422C>A (p.Ala141Asp) c.19C>A n.672C>A | |
| 7 | g.24717299C>A | CA367047962 | GSDME | c.652G>T (p.Ala218Ser) c.160G>T (p.Ala54Ser) n.421G>T c.126G>T n.347G>T c.421G>T (p.Ala141Ser) c.18G>T n.671G>T | |
| 7 | g.24717299C>G | CA367047963 | GSDME | c.652G>C (p.Ala218Pro) c.160G>C (p.Ala54Pro) n.421G>C c.126G>C n.347G>C c.421G>C (p.Ala141Pro) c.18G>C n.671G>C | |
| 7 | g.24717299C>T | CA367047964 | GSDME | c.652G>A (p.Ala218Thr) c.160G>A (p.Ala54Thr) n.421G>A c.126G>A n.347G>A c.421G>A (p.Ala141Thr) c.18G>A n.671G>A | gnomAD v3 gnomAD v4 |
| 7 | g.24717300A>C | CA367047965 | GSDME | c.651T>G (p.Ile217Met) c.159T>G (p.Ile53Met) n.420T>G c.125T>G n.346T>G c.420T>G (p.Ile140Met) c.17T>G n.670T>G | |
| 7 | g.24717300A>G | CA454021268 | GSDME | c.651T>C (p.Ile217=) c.159T>C (p.Ile53=) n.420T>C c.125T>C n.346T>C c.420T>C (p.Ile140=) c.17T>C n.670T>C | |
| 7 | g.24717300A>T | CA454021269 | GSDME | c.651T>A (p.Ile217=) c.159T>A (p.Ile53=) n.420T>A c.125T>A n.346T>A c.420T>A (p.Ile140=) c.17T>A n.670T>A | |
| 7 | g.24717301A= | CA1695069100 | GSDME | c.650T= (p.Ile217=) c.158T= (p.Ile53=) n.419T= c.124T= n.345T= c.419T= (p.Ile140=) c.16T= n.669T= | |
| 7 | g.24717301A>C | CA367047966 | GSDME | c.650T>G (p.Ile217Ser) c.158T>G (p.Ile53Ser) n.419T>G c.124T>G n.345T>G c.419T>G (p.Ile140Ser) c.16T>G n.669T>G | |
| 7 | g.24717301A>G | CA4191661 | GSDME | c.650T>C (p.Ile217Thr) c.158T>C (p.Ile53Thr) n.419T>C c.124T>C n.345T>C c.419T>C (p.Ile140Thr) c.16T>C n.669T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.24717301A>T | CA367047967 | GSDME | c.650T>A (p.Ile217Asn) c.158T>A (p.Ile53Asn) n.419T>A c.124T>A n.345T>A c.419T>A (p.Ile140Asn) c.16T>A n.669T>A | |
| 7 | g.24717301_24717304delinsATGG | CA1695069103 | GSDME | c.647_650delinsCCAT (p.Thr216=) c.155_158delinsCCAT (p.Thr52=) n.416_419delinsCCAT c.121_124delinsCCAT n.342_345delinsCCAT c.416_419delinsCCAT (p.Thr139=) c.13_16delinsCCAT n.666_669delinsCCAT | |
| 7 | g.24717302T>A | CA367047968 | GSDME | c.649A>T (p.Ile217Phe) c.157A>T (p.Ile53Phe) n.418A>T c.123A>T n.344A>T c.418A>T (p.Ile140Phe) c.15A>T n.668A>T | |
| 7 | g.24717302T>C | CA367047969 | GSDME | c.649A>G (p.Ile217Val) c.157A>G (p.Ile53Val) n.418A>G c.123A>G n.344A>G c.418A>G (p.Ile140Val) c.15A>G n.668A>G | dbSNP |
| 7 | g.24717302T>G | CA367047970 | GSDME | c.649A>C (p.Ile217Leu) c.157A>C (p.Ile53Leu) n.418A>C c.123A>C n.344A>C c.418A>C (p.Ile140Leu) c.15A>C n.668A>C | |
| 7 | g.24717302T= | CA1695069105 | GSDME | c.649A= (p.Ile217=) c.157A= (p.Ile53=) n.418A= c.123A= n.344A= c.418A= (p.Ile140=) c.15A= n.668A= | |
| 7 | g.24717308_24717310del | CA917965684 | GSDME | c.647_649del (p.Thr216del) c.155_157del (p.Thr52del) n.416_418del c.121_123del n.342_344del c.416_418del (p.Thr139del) c.13_15del n.666_668del | dbSNP |
| 7 | g.24717303G>A | CA4191662 | GSDME | c.648C>T (p.Thr216=) c.156C>T (p.Thr52=) n.417C>T c.122C>T n.343C>T c.417C>T (p.Thr139=) c.14C>T n.667C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.24717303G>C | CA454021270 | GSDME | c.648C>G (p.Thr216=) c.156C>G (p.Thr52=) n.417C>G c.122C>G n.343C>G c.417C>G (p.Thr139=) c.14C>G n.667C>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.24717303G= | CA1695069108 | GSDME | c.648C= (p.Thr216=) c.156C= (p.Thr52=) n.417C= c.122C= n.343C= c.417C= (p.Thr139=) c.14C= n.667C= | |
| 7 | g.24717303G>T | CA454021271 | GSDME | c.648C>A (p.Thr216=) c.156C>A (p.Thr52=) n.417C>A c.122C>A n.343C>A c.417C>A (p.Thr139=) c.14C>A n.667C>A | gnomAD v4 |
| 7 | g.24717304G>A | CA367047971 | GSDME | c.647C>T (p.Thr216Ile) c.155C>T (p.Thr52Ile) n.416C>T c.121C>T n.342C>T c.416C>T (p.Thr139Ile) c.13C>T n.666C>T | gnomAD v4 |
| 7 | g.24717304G>C | CA367047973 | GSDME | c.647C>G (p.Thr216Ser) c.155C>G (p.Thr52Ser) n.416C>G c.121C>G n.342C>G c.416C>G (p.Thr139Ser) c.13C>G n.666C>G | |
| 7 | g.24717304G= | CA1695069111 | GSDME | c.647C= (p.Thr216=) c.155C= (p.Thr52=) n.416C= c.121C= n.342C= c.416C= (p.Thr139=) c.13C= n.666C= | |
| 7 | g.24717304G>T | CA367047972 | GSDME | c.647C>A (p.Thr216Asn) c.155C>A (p.Thr52Asn) n.416C>A c.121C>A n.342C>A c.416C>A (p.Thr139Asn) c.13C>A n.666C>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.24717305T>A | CA367047974 | GSDME | c.646A>T (p.Thr216Ser) c.154A>T (p.Thr52Ser) n.415A>T c.120A>T n.341A>T c.415A>T (p.Thr139Ser) c.12A>T n.665A>T | |
| 7 | g.24717305T>C | CA367047975 | GSDME | c.646A>G (p.Thr216Ala) c.154A>G (p.Thr52Ala) n.415A>G c.120A>G n.341A>G c.415A>G (p.Thr139Ala) c.12A>G n.665A>G | |
| 7 | g.24717305T>G | CA367047976 | GSDME | c.646A>C (p.Thr216Pro) c.154A>C (p.Thr52Pro) n.415A>C c.120A>C n.341A>C c.415A>C (p.Thr139Pro) c.12A>C n.665A>C | |
| 7 | g.24717306G>A | CA4191663 | GSDME | c.645C>T (p.Thr215=) c.153C>T (p.Thr51=) n.414C>T c.119C>T n.340C>T c.414C>T (p.Thr138=) c.11C>T n.664C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.24717306G>C | CA454021272 | GSDME | c.645C>G (p.Thr215=) c.153C>G (p.Thr51=) n.414C>G c.119C>G n.340C>G c.414C>G (p.Thr138=) c.11C>G n.664C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |