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.113784227G>A | CA16616874 | ATP6V1A | c.116G>A (p.Gly39Asp) c.215G>A (p.Gly72Asp) n.315G>A c.*117G>A (n.*117G>A) | ClinVar dbSNP COSMIC |
| 3 | g.113784227G>C | CA354006950 | ATP6V1A | c.116G>C (p.Gly39Ala) c.215G>C (p.Gly72Ala) n.315G>C c.*117G>C (n.*117G>C) | |
| 3 | g.113784227G>T | CA354006953 | ATP6V1A | c.116G>T (p.Gly39Val) c.215G>T (p.Gly72Val) n.315G>T c.*117G>T (n.*117G>T) | |
| 3 | g.113784228T>A | CA434944918 | ATP6V1A | c.117T>A (p.Gly39=) c.216T>A (p.Gly72=) n.316T>A c.*118T>A (n.*118T>A) | |
| 3 | g.113784228T>C | CA2547795 | ATP6V1A | c.117T>C (p.Gly39=) c.216T>C (p.Gly72=) n.316T>C c.*118T>C (n.*118T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.113784228T>G | CA434944923 | ATP6V1A | c.117T>G (p.Gly39=) c.216T>G (p.Gly72=) n.316T>G c.*118T>G (n.*118T>G) | |
| 3 | g.113784229G>A | CA354006962 | ATP6V1A | c.118G>A (p.Val40Met) c.217G>A (p.Val73Met) n.317G>A c.*119G>A (n.*119G>A) | ClinVar |
| 3 | g.113784229G>C | CA354006969 | ATP6V1A | c.118G>C (p.Val40Leu) c.217G>C (p.Val73Leu) n.317G>C c.*119G>C (n.*119G>C) | |
| 3 | g.113784229G>T | CA81620490 | ATP6V1A | c.118G>T (p.Val40Leu) c.217G>T (p.Val73Leu) n.317G>T c.*119G>T (n.*119G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.113784230T>A | CA354006987 | ATP6V1A | c.119T>A (p.Val40Glu) c.218T>A (p.Val73Glu) n.318T>A c.*120T>A (n.*120T>A) | |
| 3 | g.113784230T>C | CA354006989 | ATP6V1A | c.119T>C (p.Val40Ala) c.218T>C (p.Val73Ala) n.318T>C c.*120T>C (n.*120T>C) | gnomAD v4 |
| 3 | g.113784230T>G | CA354006990 | ATP6V1A | c.119T>G (p.Val40Gly) c.218T>G (p.Val73Gly) n.318T>G c.*120T>G (n.*120T>G) | dbSNP |
| 3 | g.113784231G>A | CA434944944 | ATP6V1A | c.120G>A (p.Val40=) c.219G>A (p.Val73=) n.319G>A c.*121G>A (n.*121G>A) | |
| 3 | g.113784231G>C | CA434944941 | ATP6V1A | c.120G>C (p.Val40=) c.219G>C (p.Val73=) n.319G>C c.*121G>C (n.*121G>C) | |
| 3 | g.113784231G>T | CA434944939 | ATP6V1A | c.120G>T (p.Val40=) c.219G>T (p.Val73=) n.319G>T c.*121G>T (n.*121G>T) | |
| 3 | g.113784232T>A | CA354006991 | ATP6V1A | c.121T>A (p.Ser41Thr) c.220T>A (p.Ser74Thr) n.320T>A c.*122T>A (n.*122T>A) | |
| 3 | g.113784232T>C | CA354006992 | ATP6V1A | c.121T>C (p.Ser41Pro) c.220T>C (p.Ser74Pro) n.320T>C c.*122T>C (n.*122T>C) | |
| 3 | g.113784232T>G | CA354006995 | ATP6V1A | c.121T>G (p.Ser41Ala) c.220T>G (p.Ser74Ala) n.320T>G c.*122T>G (n.*122T>G) | ClinVar |
| 3 | g.113784233C>A | CA354007007 | ATP6V1A | c.122C>A (p.Ser41Tyr) c.221C>A (p.Ser74Tyr) n.321C>A c.*123C>A (n.*123C>A) | |
| 3 | g.113784233C>G | CA354007000 | ATP6V1A | c.122C>G (p.Ser41Cys) c.221C>G (p.Ser74Cys) n.321C>G c.*123C>G (n.*123C>G) | |
| 3 | g.113784233C>T | CA354007004 | ATP6V1A | c.122C>T (p.Ser41Phe) c.221C>T (p.Ser74Phe) n.321C>T c.*123C>T (n.*123C>T) | |
| 3 | g.113784234T>A | CA434944957 | ATP6V1A | c.123T>A (p.Ser41=) c.222T>A (p.Ser74=) n.322T>A c.*124T>A (n.*124T>A) | |
| 3 | g.113784234T>C | CA434944959 | ATP6V1A | c.123T>C (p.Ser41=) c.222T>C (p.Ser74=) n.322T>C c.*124T>C (n.*124T>C) | |
| 3 | g.113784234T>G | CA434944961 | ATP6V1A | c.123T>G (p.Ser41=) c.222T>G (p.Ser74=) n.322T>G c.*124T>G (n.*124T>G) | |
| 3 | g.113784235G>A | CA354007010 | ATP6V1A | c.124G>A (p.Val42Ile) c.223G>A (p.Val75Ile) n.323G>A c.*125G>A (n.*125G>A) | |
| 3 | g.113784235G>C | CA354007013 | ATP6V1A | c.124G>C (p.Val42Leu) c.223G>C (p.Val75Leu) n.323G>C c.*125G>C (n.*125G>C) | |
| 3 | g.113784235G>T | CA2547796 | ATP6V1A | c.124G>T (p.Val42Phe) c.223G>T (p.Val75Phe) n.323G>T c.*125G>T (n.*125G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113784236T>A | CA354007018 | ATP6V1A | c.125T>A (p.Val42Asp) c.224T>A (p.Val75Asp) n.324T>A c.*126T>A (n.*126T>A) | |
| 3 | g.113784236T>C | CA354007019 | ATP6V1A | c.125T>C (p.Val42Ala) c.224T>C (p.Val75Ala) n.324T>C c.*126T>C (n.*126T>C) | |
| 3 | g.113784236T>G | CA354007020 | ATP6V1A | c.125T>G (p.Val42Gly) c.224T>G (p.Val75Gly) n.324T>G c.*126T>G (n.*126T>G) | |
| 3 | g.113784237T>A | CA434944969 | ATP6V1A | c.126T>A (p.Val42=) c.225T>A (p.Val75=) n.325T>A c.*127T>A (n.*127T>A) | |
| 3 | g.113784237T>C | CA434944973 | ATP6V1A | c.126T>C (p.Val42=) c.225T>C (p.Val75=) n.325T>C c.*127T>C (n.*127T>C) | |
| 3 | g.113784237T>G | CA434944971 | ATP6V1A | c.126T>G (p.Val42=) c.225T>G (p.Val75=) n.325T>G c.*127T>G (n.*127T>G) | |
| 3 | g.113784238G>A | CA354007029 | ATP6V1A | c.127G>A (p.Gly43Arg) c.226G>A (p.Gly76Arg) n.326G>A c.*128G>A (n.*128G>A) | |
| 3 | g.113784238G>C | CA354007024 | ATP6V1A | c.127G>C (p.Gly43Arg) c.226G>C (p.Gly76Arg) n.326G>C c.*128G>C (n.*128G>C) | |
| 3 | g.113784238G>T | CA354007021 | ATP6V1A | c.127G>T (p.Gly43Ter) c.226G>T (p.Gly76Ter) n.326G>T c.*128G>T (n.*128G>T) | |
| 3 | g.113784239G>A | CA354007034 | ATP6V1A | c.128G>A (p.Gly43Glu) c.227G>A (p.Gly76Glu) n.327G>A c.*129G>A (n.*129G>A) | |
| 3 | g.113784239G>C | CA354007039 | ATP6V1A | c.128G>C (p.Gly43Ala) c.227G>C (p.Gly76Ala) n.327G>C c.*129G>C (n.*129G>C) | gnomAD v4 |
| 3 | g.113784239G>T | CA354007042 | ATP6V1A | c.128G>T (p.Gly43Val) c.227G>T (p.Gly76Val) n.327G>T c.*129G>T (n.*129G>T) | |
| 3 | g.113784240A>C | CA434944984 | ATP6V1A | c.129A>C (p.Gly43=) c.228A>C (p.Gly76=) n.328A>C c.*130A>C (n.*130A>C) | |
| 3 | g.113784240A>G | CA434944986 | ATP6V1A | c.129A>G (p.Gly43=) c.228A>G (p.Gly76=) n.328A>G c.*130A>G (n.*130A>G) | |
| 3 | g.113784240A>T | CA434944987 | ATP6V1A | c.129A>T (p.Gly43=) c.228A>T (p.Gly76=) n.328A>T c.*130A>T (n.*130A>T) | |
| 3 | g.113784241G>A | CA354007043 | ATP6V1A | c.130G>A (p.Asp44Asn) c.229G>A (p.Asp77Asn) n.329G>A c.*131G>A (n.*131G>A) | |
| 3 | g.113784241G>C | CA354007044 | ATP6V1A | c.130G>C (p.Asp44His) c.229G>C (p.Asp77His) n.329G>C c.*131G>C (n.*131G>C) | |
| 3 | g.113784241G>T | CA354007045 | ATP6V1A | c.130G>T (p.Asp44Tyr) c.229G>T (p.Asp77Tyr) n.329G>T c.*131G>T (n.*131G>T) | |
| 3 | g.113784242A>C | CA354007050 | ATP6V1A | c.131A>C (p.Asp44Ala) c.230A>C (p.Asp77Ala) n.330A>C c.*132A>C (n.*132A>C) | |
| 3 | g.113784242A>G | CA354007056 | ATP6V1A | c.131A>G (p.Asp44Gly) c.230A>G (p.Asp77Gly) n.330A>G c.*132A>G (n.*132A>G) | |
| 3 | g.113784242A>T | CA354007052 | ATP6V1A | c.131A>T (p.Asp44Val) c.230A>T (p.Asp77Val) n.330A>T c.*132A>T (n.*132A>T) | |
| 3 | g.113784243T>A | CA354007061 | ATP6V1A | c.132T>A (p.Asp44Glu) c.231T>A (p.Asp77Glu) n.331T>A c.*133T>A (n.*133T>A) | |
| 3 | g.113784243T>C | CA434945000 | ATP6V1A | c.132T>C (p.Asp44=) c.231T>C (p.Asp77=) n.331T>C c.*133T>C (n.*133T>C) |