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 |
|---|---|---|---|---|---|
| 11 | g.2572852A>C | CA379131266 | KCNQ1 | c.526A>C (p.Ile176Leu) c.478-10583A>C (n.478-10583A>C) c.787A>C (p.Ile263Leu) c.406A>C (p.Ile136Leu) c.124-10583A>C (n.124-10583A>C) | |
| 11 | g.2572852A>G | CA379131265 | KCNQ1 | c.526A>G (p.Ile176Val) c.478-10583A>G (n.478-10583A>G) c.787A>G (p.Ile263Val) c.406A>G (p.Ile136Val) c.124-10583A>G (n.124-10583A>G) | ClinVar |
| 11 | g.2572852A>T | CA379131263 | KCNQ1 | c.526A>T (p.Ile176Leu) c.478-10583A>T (n.478-10583A>T) c.787A>T (p.Ile263Leu) c.406A>T (p.Ile136Leu) c.124-10583A>T (n.124-10583A>T) | |
| 11 | g.2572852_2572853delinsAT | CA1948243168 | KCNQ1 | c.526_527delinsAT (p.Ile176=) c.478-10583_478-10582delinsAT (n.478-10583_478-10582delinsAT) c.787_788delinsAT (p.Ile263=) c.406_407delinsAT (p.Ile136=) c.124-10583_124-10582delinsAT (n.124-10583_124-10582delinsAT) | |
| 11 | g.2572853del | CA918805527 | KCNQ1 | c.527del (p.Ile176LysfsTer26) c.478-10582del (n.478-10582del) c.788del (p.Ile263LysfsTer26) c.407del (p.Ile136LysfsTer26) c.124-10582del (n.124-10582del) c.527del (p.Ile176LysfsTer?) | ClinVar dbSNP |
| 11 | g.2572853T>A | CA379131268 | KCNQ1 | c.527T>A (p.Ile176Lys) c.478-10582T>A (n.478-10582T>A) c.788T>A (p.Ile263Lys) c.407T>A (p.Ile136Lys) c.124-10582T>A (n.124-10582T>A) | ClinVar |
| 11 | g.2572853T>C | CA379131270 | KCNQ1 | c.527T>C (p.Ile176Thr) c.478-10582T>C (n.478-10582T>C) c.788T>C (p.Ile263Thr) c.407T>C (p.Ile136Thr) c.124-10582T>C (n.124-10582T>C) | |
| 11 | g.2572853T>G | CA379131272 | KCNQ1 | c.527T>G (p.Ile176Arg) c.478-10582T>G (n.478-10582T>G) c.788T>G (p.Ile263Arg) c.407T>G (p.Ile136Arg) c.124-10582T>G (n.124-10582T>G) | |
| 11 | g.2572854A>C | CA472038123 | KCNQ1 | c.528A>C (p.Ile176=) c.478-10581A>C (n.478-10581A>C) c.789A>C (p.Ile263=) c.408A>C (p.Ile136=) c.124-10581A>C (n.124-10581A>C) | |
| 11 | g.2572854A>G | CA379131274 | KCNQ1 | c.528A>G (p.Ile176Met) c.478-10581A>G (n.478-10581A>G) c.789A>G (p.Ile263Met) c.408A>G (p.Ile136Met) c.124-10581A>G (n.124-10581A>G) | |
| 11 | g.2572854A>T | CA472038124 | KCNQ1 | c.528A>T (p.Ile176=) c.478-10581A>T (n.478-10581A>T) c.789A>T (p.Ile263=) c.408A>T (p.Ile136=) c.124-10581A>T (n.124-10581A>T) | |
| 11 | g.2572855A>C | CA379131277 | KCNQ1 | c.529A>C (p.Thr177Pro) c.478-10580A>C (n.478-10580A>C) c.790A>C (p.Thr264Pro) c.409A>C (p.Thr137Pro) c.124-10580A>C (n.124-10580A>C) | |
| 11 | g.2572855A>G | CA379131279 | KCNQ1 | c.529A>G (p.Thr177Ala) c.478-10580A>G (n.478-10580A>G) c.790A>G (p.Thr264Ala) c.409A>G (p.Thr137Ala) c.124-10580A>G (n.124-10580A>G) | |
| 11 | g.2572855A>T | CA379131280 | KCNQ1 | c.529A>T (p.Thr177Ser) c.478-10580A>T (n.478-10580A>T) c.790A>T (p.Thr264Ser) c.409A>T (p.Thr137Ser) c.124-10580A>T (n.124-10580A>T) | |
| 11 | g.2572855_2572856del | CA2697558900 | KCNQ1 | c.529_530del (p.Thr177HisfsTer20) c.478-10580_478-10579del (n.478-10580_478-10579del) c.790_791del (p.Thr264HisfsTer20) c.409_410del (p.Thr137HisfsTer20) c.124-10580_124-10579del (n.124-10580_124-10579del) c.529_530del (p.Thr177HisfsTer?) | ClinVar |
| 11 | g.2572856C>A | CA379131283 | KCNQ1 | c.530C>A (p.Thr177Asn) c.478-10579C>A (n.478-10579C>A) c.791C>A (p.Thr264Asn) c.410C>A (p.Thr137Asn) c.124-10579C>A (n.124-10579C>A) | |
| 11 | g.2572856C= | CA1948243169 | KCNQ1 | c.530C= (p.Thr177=) c.478-10579C= (n.478-10579C=) c.791C= (p.Thr264=) c.410C= (p.Thr137=) c.124-10579C= (n.124-10579C=) | |
| 11 | g.2572856C>G | CA040719 | KCNQ1 | c.530C>G (p.Thr177Ser) c.478-10579C>G (n.478-10579C>G) c.791C>G (p.Thr264Ser) c.410C>G (p.Thr137Ser) c.124-10579C>G (n.124-10579C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572856C>T | CA379131285 | KCNQ1 | c.530C>T (p.Thr177Ile) c.478-10579C>T (n.478-10579C>T) c.791C>T (p.Thr264Ile) c.410C>T (p.Thr137Ile) c.124-10579C>T (n.124-10579C>T) | |
| 11 | g.2572857C>A | CA472038125 | KCNQ1 | c.531C>A (p.Thr177=) c.478-10578C>A (n.478-10578C>A) c.792C>A (p.Thr264=) c.411C>A (p.Thr137=) c.124-10578C>A (n.124-10578C>A) | |
| 11 | g.2572857C>G | CA472038126 | KCNQ1 | c.531C>G (p.Thr177=) c.478-10578C>G (n.478-10578C>G) c.792C>G (p.Thr264=) c.411C>G (p.Thr137=) c.124-10578C>G (n.124-10578C>G) | gnomAD v4 |
| 11 | g.2572857C>T | CA472038127 | KCNQ1 | c.531C>T (p.Thr177=) c.478-10578C>T (n.478-10578C>T) c.792C>T (p.Thr264=) c.411C>T (p.Thr137=) c.124-10578C>T (n.124-10578C>T) | gnomAD v4 |
| 11 | g.2572858A>C | CA379131288 | KCNQ1 | c.532A>C (p.Thr178Pro) c.478-10577A>C (n.478-10577A>C) c.793A>C (p.Thr265Pro) c.412A>C (p.Thr138Pro) c.124-10577A>C (n.124-10577A>C) | |
| 11 | g.2572858A>G | CA379131289 | KCNQ1 | c.532A>G (p.Thr178Ala) c.478-10577A>G (n.478-10577A>G) c.793A>G (p.Thr265Ala) c.412A>G (p.Thr138Ala) c.124-10577A>G (n.124-10577A>G) | gnomAD v4 |
| 11 | g.2572858A>T | CA379131291 | KCNQ1 | c.532A>T (p.Thr178Ser) c.478-10577A>T (n.478-10577A>T) c.793A>T (p.Thr265Ser) c.412A>T (p.Thr138Ser) c.124-10577A>T (n.124-10577A>T) | |
| 11 | g.2572858_2572859delinsAC | CA1948243170 | KCNQ1 | c.532_533delinsAC (p.Thr178=) c.478-10577_478-10576delinsAC (n.478-10577_478-10576delinsAC) c.793_794delinsAC (p.Thr265=) c.412_413delinsAC (p.Thr138=) c.124-10577_124-10576delinsAC (n.124-10577_124-10576delinsAC) | |
| 11 | g.2572859C>A | CA379131296 | KCNQ1 | c.533C>A (p.Thr178Asn) c.478-10576C>A (n.478-10576C>A) c.794C>A (p.Thr265Asn) c.413C>A (p.Thr138Asn) c.124-10576C>A (n.124-10576C>A) | ClinVar dbSNP |
| 11 | g.2572859C= | CA1948243171 | KCNQ1 | c.533C= (p.Thr178=) c.478-10576C= (n.478-10576C=) c.794C= (p.Thr265=) c.413C= (p.Thr138=) c.124-10576C= (n.124-10576C=) | |
| 11 | g.2572859C>G | CA379131295 | KCNQ1 | c.533C>G (p.Thr178Ser) c.478-10576C>G (n.478-10576C>G) c.794C>G (p.Thr265Ser) c.413C>G (p.Thr138Ser) c.124-10576C>G (n.124-10576C>G) | |
| 11 | g.2572859C>T | CA008246 | KCNQ1 | c.533C>T (p.Thr178Ile) c.478-10576C>T (n.478-10576C>T) c.794C>T (p.Thr265Ile) c.413C>T (p.Thr138Ile) c.124-10576C>T (n.124-10576C>T) | ClinVar dbSNP |
| 11 | g.2572861del | CA008255 | KCNQ1 | c.535del (p.Leu179CysfsTer23) c.478-10574del (n.478-10574del) c.796del (p.Leu266CysfsTer23) c.415del (p.Leu139CysfsTer23) c.124-10574del (n.124-10574del) c.535del (p.Leu179CysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572860C>A | CA472038128 | KCNQ1 | c.534C>A (p.Thr178=) c.478-10575C>A (n.478-10575C>A) c.795C>A (p.Thr265=) c.414C>A (p.Thr138=) c.124-10575C>A (n.124-10575C>A) | |
| 11 | g.2572860C= | CA1948243172 | KCNQ1 | c.534C= (p.Thr178=) c.478-10575C= (n.478-10575C=) c.795C= (p.Thr265=) c.414C= (p.Thr138=) c.124-10575C= (n.124-10575C=) | |
| 11 | g.2572860C>G | CA472038129 | KCNQ1 | c.534C>G (p.Thr178=) c.478-10575C>G (n.478-10575C>G) c.795C>G (p.Thr265=) c.414C>G (p.Thr138=) c.124-10575C>G (n.124-10575C>G) | dbSNP |
| 11 | g.2572860C>T | CA472038130 | KCNQ1 | c.534C>T (p.Thr178=) c.478-10575C>T (n.478-10575C>T) c.795C>T (p.Thr265=) c.414C>T (p.Thr138=) c.124-10575C>T (n.124-10575C>T) | dbSNP |
| 11 | g.2572861C>A | CA379131299 | KCNQ1 | c.535C>A (p.Leu179Met) c.478-10574C>A (n.478-10574C>A) c.796C>A (p.Leu266Met) c.415C>A (p.Leu139Met) c.124-10574C>A (n.124-10574C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572861C= | CA1948243173 | KCNQ1 | c.535C= (p.Leu179=) c.478-10574C= (n.478-10574C=) c.796C= (p.Leu266=) c.415C= (p.Leu139=) c.124-10574C= (n.124-10574C=) | |
| 11 | g.2572861C>G | CA379131301 | KCNQ1 | c.535C>G (p.Leu179Val) c.478-10574C>G (n.478-10574C>G) c.796C>G (p.Leu266Val) c.415C>G (p.Leu139Val) c.124-10574C>G (n.124-10574C>G) | |
| 11 | g.2572861C>T | CA472038131 | KCNQ1 | c.535C>T (p.Leu179=) c.478-10574C>T (n.478-10574C>T) c.796C>T (p.Leu266=) c.415C>T (p.Leu139=) c.124-10574C>T (n.124-10574C>T) | gnomAD v4 |
| 11 | g.2572862T>A | CA379131303 | KCNQ1 | c.536T>A (p.Leu179Gln) c.478-10573T>A (n.478-10573T>A) c.797T>A (p.Leu266Gln) c.416T>A (p.Leu139Gln) c.124-10573T>A (n.124-10573T>A) | ClinVar |
| 11 | g.2572862T>C | CA008262 | KCNQ1 | c.536T>C (p.Leu179Pro) c.478-10573T>C (n.478-10573T>C) c.797T>C (p.Leu266Pro) c.416T>C (p.Leu139Pro) c.124-10573T>C (n.124-10573T>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572862T>G | CA16606299 | KCNQ1 | c.536T>G (p.Leu179Arg) c.478-10573T>G (n.478-10573T>G) c.797T>G (p.Leu266Arg) c.416T>G (p.Leu139Arg) c.124-10573T>G (n.124-10573T>G) | ClinVar dbSNP |
| 11 | g.2572862T= | CA1948243174 | KCNQ1 | c.536T= (p.Leu179=) c.478-10573T= (n.478-10573T=) c.797T= (p.Leu266=) c.416T= (p.Leu139=) c.124-10573T= (n.124-10573T=) | |
| 11 | g.2572863G>A | CA472038133 | KCNQ1 | c.537G>A (p.Leu179=) c.478-10572G>A (n.478-10572G>A) c.798G>A (p.Leu266=) c.417G>A (p.Leu139=) c.124-10572G>A (n.124-10572G>A) | |
| 11 | g.2572863G>C | CA472038134 | KCNQ1 | c.537G>C (p.Leu179=) c.478-10572G>C (n.478-10572G>C) c.798G>C (p.Leu266=) c.417G>C (p.Leu139=) c.124-10572G>C (n.124-10572G>C) | |
| 11 | g.2572863G>T | CA472038135 | KCNQ1 | c.537G>T (p.Leu179=) c.478-10572G>T (n.478-10572G>T) c.798G>T (p.Leu266=) c.417G>T (p.Leu139=) c.124-10572G>T (n.124-10572G>T) | |
| 11 | g.2572864T>A | CA379131308 | KCNQ1 | c.538T>A (p.Tyr180Asn) c.478-10571T>A (n.478-10571T>A) c.799T>A (p.Tyr267Asn) c.418T>A (p.Tyr140Asn) c.124-10571T>A (n.124-10571T>A) | |
| 11 | g.2572864T>C | CA379131309 | KCNQ1 | c.538T>C (p.Tyr180His) c.478-10571T>C (n.478-10571T>C) c.799T>C (p.Tyr267His) c.418T>C (p.Tyr140His) c.124-10571T>C (n.124-10571T>C) | |
| 11 | g.2572864T>G | CA379131311 | KCNQ1 | c.538T>G (p.Tyr180Asp) c.478-10571T>G (n.478-10571T>G) c.799T>G (p.Tyr267Asp) c.418T>G (p.Tyr140Asp) c.124-10571T>G (n.124-10571T>G) | |
| 11 | g.2572865A= | CA1948243175 | KCNQ1 | c.539A= (p.Tyr180=) c.478-10570A= (n.478-10570A=) c.800A= (p.Tyr267=) c.419A= (p.Tyr140=) c.124-10570A= (n.124-10570A=) |