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 |
|---|---|---|---|---|---|
| 18 | g.3457372A>C | CA401723113 | TGIF1 | c.191A>C (p.Asn64Thr) c.251A>C (p.Asn84Thr) c.638A>C (p.Asn213Thr) c.244-25A>C (n.244-25A>C) c.293A>C (p.Asn98Thr) c.260A>C (p.Asn87Thr) | |
| 18 | g.3457372A>G | CA401723114 | TGIF1 | c.191A>G (p.Asn64Ser) c.251A>G (p.Asn84Ser) c.638A>G (p.Asn213Ser) c.244-25A>G (n.244-25A>G) c.293A>G (p.Asn98Ser) c.260A>G (p.Asn87Ser) | |
| 18 | g.3457372A>T | CA401723115 | TGIF1 | c.191A>T (p.Asn64Ile) c.251A>T (p.Asn84Ile) c.638A>T (p.Asn213Ile) c.244-25A>T (n.244-25A>T) c.293A>T (p.Asn98Ile) c.260A>T (p.Asn87Ile) | |
| 18 | g.3457373del | CA502810313 | TGIF1 | c.192del (p.Trp65GlyfsTer14) c.252del (p.Trp85GlyfsTer14) c.639del (p.Trp214GlyfsTer14) c.244-24del (n.244-24del) c.294del (p.Trp99GlyfsTer14) c.261del (p.Trp88GlyfsTer14) | COSMIC COSMIC |
| 18 | g.3457373C>A | CA401723117 | TGIF1 | c.192C>A (p.Asn64Lys) c.252C>A (p.Asn84Lys) c.639C>A (p.Asn213Lys) c.244-24C>A (n.244-24C>A) c.294C>A (p.Asn98Lys) c.261C>A (p.Asn87Lys) | |
| 18 | g.3457373C= | CA2281035499 | TGIF1 | c.192C= (p.Asn64=) c.252C= (p.Asn84=) c.639C= (p.Asn213=) c.244-24C= (n.244-24C=) c.294C= (p.Asn98=) c.261C= (p.Asn87=) | |
| 18 | g.3457373C>G | CA401723116 | TGIF1 | c.192C>G (p.Asn64Lys) c.252C>G (p.Asn84Lys) c.639C>G (p.Asn213Lys) c.244-24C>G (n.244-24C>G) c.294C>G (p.Asn98Lys) c.261C>G (p.Asn87Lys) | |
| 18 | g.3457373C>T | CA502810311 | TGIF1 | c.192C>T (p.Asn64=) c.252C>T (p.Asn84=) c.639C>T (p.Asn213=) c.244-24C>T (n.244-24C>T) c.294C>T (p.Asn98=) c.261C>T (p.Asn87=) | dbSNP |
| 18 | g.3457374T>A | CA401723118 | TGIF1 | c.193T>A (p.Trp65Arg) c.253T>A (p.Trp85Arg) c.640T>A (p.Trp214Arg) c.244-23T>A (n.244-23T>A) c.295T>A (p.Trp99Arg) c.262T>A (p.Trp88Arg) | |
| 18 | g.3457374T>C | CA401723119 | TGIF1 | c.193T>C (p.Trp65Arg) c.253T>C (p.Trp85Arg) c.640T>C (p.Trp214Arg) c.244-23T>C (n.244-23T>C) c.295T>C (p.Trp99Arg) c.262T>C (p.Trp88Arg) | |
| 18 | g.3457374T>G | CA401723120 | TGIF1 | c.193T>G (p.Trp65Gly) c.253T>G (p.Trp85Gly) c.640T>G (p.Trp214Gly) c.244-23T>G (n.244-23T>G) c.295T>G (p.Trp99Gly) c.262T>G (p.Trp88Gly) | |
| 18 | g.3457375G>A | CA401723121 | TGIF1 | c.194G>A (p.Trp65Ter) c.254G>A (p.Trp85Ter) c.641G>A (p.Trp214Ter) c.244-22G>A (n.244-22G>A) c.296G>A (p.Trp99Ter) c.263G>A (p.Trp88Ter) | |
| 18 | g.3457375G>C | CA401723122 | TGIF1 | c.194G>C (p.Trp65Ser) c.254G>C (p.Trp85Ser) c.641G>C (p.Trp214Ser) c.244-22G>C (n.244-22G>C) c.296G>C (p.Trp99Ser) c.263G>C (p.Trp88Ser) | |
| 18 | g.3457375G>T | CA401723123 | TGIF1 | c.194G>T (p.Trp65Leu) c.254G>T (p.Trp85Leu) c.641G>T (p.Trp214Leu) c.244-22G>T (n.244-22G>T) c.296G>T (p.Trp99Leu) c.263G>T (p.Trp88Leu) | |
| 18 | g.3457376G>A | CA401723124 | TGIF1 | c.195G>A (p.Trp65Ter) c.255G>A (p.Trp85Ter) c.642G>A (p.Trp214Ter) c.244-21G>A (n.244-21G>A) c.297G>A (p.Trp99Ter) c.264G>A (p.Trp88Ter) | |
| 18 | g.3457376G>C | CA401723125 | TGIF1 | c.195G>C (p.Trp65Cys) c.255G>C (p.Trp85Cys) c.642G>C (p.Trp214Cys) c.244-21G>C (n.244-21G>C) c.297G>C (p.Trp99Cys) c.264G>C (p.Trp88Cys) | |
| 18 | g.3457376G>T | CA401723126 | TGIF1 | c.195G>T (p.Trp65Cys) c.255G>T (p.Trp85Cys) c.642G>T (p.Trp214Cys) c.244-21G>T (n.244-21G>T) c.297G>T (p.Trp99Cys) c.264G>T (p.Trp88Cys) | |
| 18 | g.3457377T>A | CA401723127 | TGIF1 | c.196T>A (p.Phe66Ile) c.256T>A (p.Phe86Ile) c.643T>A (p.Phe215Ile) c.244-20T>A (n.244-20T>A) c.298T>A (p.Phe100Ile) c.265T>A (p.Phe89Ile) | |
| 18 | g.3457377T>C | CA295566957 | TGIF1 | c.196T>C (p.Phe66Leu) c.256T>C (p.Phe86Leu) c.643T>C (p.Phe215Leu) c.244-20T>C (n.244-20T>C) c.298T>C (p.Phe100Leu) c.265T>C (p.Phe89Leu) | dbSNP |
| 18 | g.3457377T>G | CA401723128 | TGIF1 | c.196T>G (p.Phe66Val) c.256T>G (p.Phe86Val) c.643T>G (p.Phe215Val) c.244-20T>G (n.244-20T>G) c.298T>G (p.Phe100Val) c.265T>G (p.Phe89Val) | |
| 18 | g.3457377T= | CA2281035500 | TGIF1 | c.196T= (p.Phe66=) c.256T= (p.Phe86=) c.643T= (p.Phe215=) c.244-20T= (n.244-20T=) c.298T= (p.Phe100=) c.265T= (p.Phe89=) | |
| 18 | g.3457378del | CA2695200379 | TGIF1 | c.197del (p.Phe66SerfsTer13) c.257del (p.Phe86SerfsTer13) c.644del (p.Phe215SerfsTer13) c.244-19del (n.244-19del) c.299del (p.Phe100SerfsTer13) c.266del (p.Phe89SerfsTer13) | ClinVar |
| 18 | g.3457377_3457380delinsTTCA | CA2281035501 | TGIF1 | c.196_199delinsTTCA (p.Phe66=) c.256_259delinsTTCA (p.Phe86=) c.643_646delinsTTCA (p.Phe215=) c.244-20_244-17delinsTTCA (n.244-20_244-17delinsTTCA) c.298_301delinsTTCA (p.Phe100=) c.265_268delinsTTCA (p.Phe89=) | |
| 18 | g.3457378T>A | CA401723131 | TGIF1 | c.197T>A (p.Phe66Tyr) c.257T>A (p.Phe86Tyr) c.644T>A (p.Phe215Tyr) c.244-19T>A (n.244-19T>A) c.299T>A (p.Phe100Tyr) c.266T>A (p.Phe89Tyr) | |
| 18 | g.3457378T>C | CA401723130 | TGIF1 | c.197T>C (p.Phe66Ser) c.257T>C (p.Phe86Ser) c.644T>C (p.Phe215Ser) c.244-19T>C (n.244-19T>C) c.299T>C (p.Phe100Ser) c.266T>C (p.Phe89Ser) | |
| 18 | g.3457378T>G | CA401723129 | TGIF1 | c.197T>G (p.Phe66Cys) c.257T>G (p.Phe86Cys) c.644T>G (p.Phe215Cys) c.244-19T>G (n.244-19T>G) c.299T>G (p.Phe100Cys) c.266T>G (p.Phe89Cys) | |
| 18 | g.3457381_3457383del | CA8875921 | TGIF1 | c.200_202del (p.Ile67del) c.260_262del (p.Ile87del) c.647_649del (p.Ile216del) c.244-16_244-14del (n.244-16_244-14del) c.302_304del (p.Ile101del) c.269_271del (p.Ile90del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457379C>A | CA401723132 | TGIF1 | c.198C>A (p.Phe66Leu) c.258C>A (p.Phe86Leu) c.645C>A (p.Phe215Leu) c.244-18C>A (n.244-18C>A) c.300C>A (p.Phe100Leu) c.267C>A (p.Phe89Leu) | |
| 18 | g.3457379C>G | CA401723133 | TGIF1 | c.198C>G (p.Phe66Leu) c.258C>G (p.Phe86Leu) c.645C>G (p.Phe215Leu) c.244-18C>G (n.244-18C>G) c.300C>G (p.Phe100Leu) c.267C>G (p.Phe89Leu) | |
| 18 | g.3457379C>T | CA502810316 | TGIF1 | c.198C>T (p.Phe66=) c.258C>T (p.Phe86=) c.645C>T (p.Phe215=) c.244-18C>T (n.244-18C>T) c.300C>T (p.Phe100=) c.267C>T (p.Phe89=) | |
| 18 | g.3457380A>C | CA401723134 | TGIF1 | c.199A>C (p.Ile67Leu) c.259A>C (p.Ile87Leu) c.646A>C (p.Ile216Leu) c.244-17A>C (n.244-17A>C) c.301A>C (p.Ile101Leu) c.268A>C (p.Ile90Leu) | |
| 18 | g.3457380A>G | CA401723135 | TGIF1 | c.199A>G (p.Ile67Val) c.259A>G (p.Ile87Val) c.646A>G (p.Ile216Val) c.244-17A>G (n.244-17A>G) c.301A>G (p.Ile101Val) c.268A>G (p.Ile90Val) | gnomAD v4 |
| 18 | g.3457380A>T | CA401723136 | TGIF1 | c.199A>T (p.Ile67Phe) c.259A>T (p.Ile87Phe) c.646A>T (p.Ile216Phe) c.244-17A>T (n.244-17A>T) c.301A>T (p.Ile101Phe) c.268A>T (p.Ile90Phe) | |
| 18 | g.3457381T>A | CA401723137 | TGIF1 | c.200T>A (p.Ile67Asn) c.260T>A (p.Ile87Asn) c.647T>A (p.Ile216Asn) c.244-16T>A (n.244-16T>A) c.302T>A (p.Ile101Asn) c.269T>A (p.Ile90Asn) | |
| 18 | g.3457381T>C | CA401723138 | TGIF1 | c.200T>C (p.Ile67Thr) c.260T>C (p.Ile87Thr) c.647T>C (p.Ile216Thr) c.244-16T>C (n.244-16T>C) c.302T>C (p.Ile101Thr) c.269T>C (p.Ile90Thr) | |
| 18 | g.3457381T>G | CA401723139 | TGIF1 | c.200T>G (p.Ile67Ser) c.260T>G (p.Ile87Ser) c.647T>G (p.Ile216Ser) c.244-16T>G (n.244-16T>G) c.302T>G (p.Ile101Ser) c.269T>G (p.Ile90Ser) | |
| 18 | g.3457382C>A | CA502810318 | TGIF1 | c.201C>A (p.Ile67=) c.261C>A (p.Ile87=) c.648C>A (p.Ile216=) c.244-15C>A (n.244-15C>A) c.303C>A (p.Ile101=) c.270C>A (p.Ile90=) | |
| 18 | g.3457382C>G | CA401723140 | TGIF1 | c.201C>G (p.Ile67Met) c.261C>G (p.Ile87Met) c.648C>G (p.Ile216Met) c.244-15C>G (n.244-15C>G) c.303C>G (p.Ile101Met) c.270C>G (p.Ile90Met) | |
| 18 | g.3457382C>T | CA502810320 | TGIF1 | c.201C>T (p.Ile67=) c.261C>T (p.Ile87=) c.648C>T (p.Ile216=) c.244-15C>T (n.244-15C>T) c.303C>T (p.Ile101=) c.270C>T (p.Ile90=) | |
| 18 | g.3457383A>C | CA401723141 | TGIF1 | c.202A>C (p.Asn68His) c.262A>C (p.Asn88His) c.649A>C (p.Asn217His) c.244-14A>C (n.244-14A>C) c.304A>C (p.Asn102His) c.271A>C (p.Asn91His) | |
| 18 | g.3457383A>G | CA401723142 | TGIF1 | c.202A>G (p.Asn68Asp) c.262A>G (p.Asn88Asp) c.649A>G (p.Asn217Asp) c.244-14A>G (n.244-14A>G) c.304A>G (p.Asn102Asp) c.271A>G (p.Asn91Asp) | COSMIC |
| 18 | g.3457383A>T | CA401723143 | TGIF1 | c.202A>T (p.Asn68Tyr) c.262A>T (p.Asn88Tyr) c.649A>T (p.Asn217Tyr) c.244-14A>T (n.244-14A>T) c.304A>T (p.Asn102Tyr) c.271A>T (p.Asn91Tyr) | |
| 18 | g.3457384A= | CA2281035502 | TGIF1 | c.203A= (p.Asn68=) c.263A= (p.Asn88=) c.650A= (p.Asn217=) c.244-13A= (n.244-13A=) c.305A= (p.Asn102=) c.272A= (p.Asn91=) | |
| 18 | g.3457384A>C | CA401723145 | TGIF1 | c.203A>C (p.Asn68Thr) c.263A>C (p.Asn88Thr) c.650A>C (p.Asn217Thr) c.244-13A>C (n.244-13A>C) c.305A>C (p.Asn102Thr) c.272A>C (p.Asn91Thr) | dbSNP |
| 18 | g.3457384A>G | CA401723146 | TGIF1 | c.203A>G (p.Asn68Ser) c.263A>G (p.Asn88Ser) c.650A>G (p.Asn217Ser) c.244-13A>G (n.244-13A>G) c.305A>G (p.Asn102Ser) c.272A>G (p.Asn91Ser) | dbSNP gnomAD v4 |
| 18 | g.3457384A>T | CA401723144 | TGIF1 | c.203A>T (p.Asn68Ile) c.263A>T (p.Asn88Ile) c.650A>T (p.Asn217Ile) c.244-13A>T (n.244-13A>T) c.305A>T (p.Asn102Ile) c.272A>T (p.Asn91Ile) | |
| 18 | g.3457385C>A | CA401723148 | TGIF1 | c.204C>A (p.Asn68Lys) c.264C>A (p.Asn88Lys) c.651C>A (p.Asn217Lys) c.244-12C>A (n.244-12C>A) c.306C>A (p.Asn102Lys) c.273C>A (p.Asn91Lys) | |
| 18 | g.3457385C= | CA2281035503 | TGIF1 | c.204C= (p.Asn68=) c.264C= (p.Asn88=) c.651C= (p.Asn217=) c.244-12C= (n.244-12C=) c.306C= (p.Asn102=) c.273C= (p.Asn91=) | |
| 18 | g.3457385C>G | CA401723147 | TGIF1 | c.204C>G (p.Asn68Lys) c.264C>G (p.Asn88Lys) c.651C>G (p.Asn217Lys) c.244-12C>G (n.244-12C>G) c.306C>G (p.Asn102Lys) c.273C>G (p.Asn91Lys) | |
| 18 | g.3457385C>T | CA8875922 | TGIF1 | c.204C>T (p.Asn68=) c.264C>T (p.Asn88=) c.651C>T (p.Asn217=) c.244-12C>T (n.244-12C>T) c.306C>T (p.Asn102=) c.273C>T (p.Asn91=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |