WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.3457506A>C | CA401723411 | TGIF1 | c.325A>C (p.Ile109Leu) c.385A>C (p.Ile129Leu) c.772A>C (p.Ile258Leu) c.*98A>C (n.*98A>C) c.427A>C (p.Ile143Leu) c.394A>C (p.Ile132Leu) | |
| 18 | g.3457506A>G | CA401723412 | TGIF1 | c.325A>G (p.Ile109Val) c.385A>G (p.Ile129Val) c.772A>G (p.Ile258Val) c.*98A>G (n.*98A>G) c.427A>G (p.Ile143Val) c.394A>G (p.Ile132Val) | gnomAD v4 |
| 18 | g.3457506A>T | CA401723413 | TGIF1 | c.325A>T (p.Ile109Phe) c.385A>T (p.Ile129Phe) c.772A>T (p.Ile258Phe) c.*98A>T (n.*98A>T) c.427A>T (p.Ile143Phe) c.394A>T (p.Ile132Phe) | |
| 18 | g.3457507T>A | CA401723415 | TGIF1 | c.326T>A (p.Ile109Asn) c.386T>A (p.Ile129Asn) c.773T>A (p.Ile258Asn) c.*99T>A (n.*99T>A) c.428T>A (p.Ile143Asn) c.395T>A (p.Ile132Asn) | |
| 18 | g.3457507T>C | CA401723416 | TGIF1 | c.326T>C (p.Ile109Thr) c.386T>C (p.Ile129Thr) c.773T>C (p.Ile258Thr) c.*99T>C (n.*99T>C) c.428T>C (p.Ile143Thr) c.395T>C (p.Ile132Thr) | |
| 18 | g.3457507T>G | CA401723414 | TGIF1 | c.326T>G (p.Ile109Ser) c.386T>G (p.Ile129Ser) c.773T>G (p.Ile258Ser) c.*99T>G (n.*99T>G) c.428T>G (p.Ile143Ser) c.395T>G (p.Ile132Ser) | |
| 18 | g.3457508C>A | CA502810461 | TGIF1 | c.327C>A (p.Ile109=) c.387C>A (p.Ile129=) c.774C>A (p.Ile258=) c.*100C>A (n.*100C>A) c.429C>A (p.Ile143=) c.396C>A (p.Ile132=) | |
| 18 | g.3457508C= | CA2281035547 | TGIF1 | c.327C= (p.Ile109=) c.387C= (p.Ile129=) c.774C= (p.Ile258=) c.*100C= (n.*100C=) c.429C= (p.Ile143=) c.396C= (p.Ile132=) | |
| 18 | g.3457508C>G | CA401723417 | TGIF1 | c.327C>G (p.Ile109Met) c.387C>G (p.Ile129Met) c.774C>G (p.Ile258Met) c.*100C>G (n.*100C>G) c.429C>G (p.Ile143Met) c.396C>G (p.Ile132Met) | |
| 18 | g.3457508C>T | CA502810462 | TGIF1 | c.327C>T (p.Ile109=) c.387C>T (p.Ile129=) c.774C>T (p.Ile258=) c.*100C>T (n.*100C>T) c.429C>T (p.Ile143=) c.396C>T (p.Ile132=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.3457509A>C | CA401723418 | TGIF1 | c.328A>C (p.Lys110Gln) c.388A>C (p.Lys130Gln) c.775A>C (p.Lys259Gln) c.*101A>C (n.*101A>C) c.430A>C (p.Lys144Gln) c.397A>C (p.Lys133Gln) | |
| 18 | g.3457509A>G | CA401723419 | TGIF1 | c.328A>G (p.Lys110Glu) c.388A>G (p.Lys130Glu) c.775A>G (p.Lys259Glu) c.*101A>G (n.*101A>G) c.430A>G (p.Lys144Glu) c.397A>G (p.Lys133Glu) | gnomAD v4 |
| 18 | g.3457509A>T | CA401723420 | TGIF1 | c.328A>T (p.Lys110Ter) c.388A>T (p.Lys130Ter) c.775A>T (p.Lys259Ter) c.*101A>T (n.*101A>T) c.430A>T (p.Lys144Ter) c.397A>T (p.Lys133Ter) | |
| 18 | g.3457510A= | CA2281035548 | TGIF1 | c.329A= (p.Lys110=) c.389A= (p.Lys130=) c.776A= (p.Lys259=) c.*102A= (n.*102A=) c.431A= (p.Lys144=) c.398A= (p.Lys133=) | |
| 18 | g.3457510A>C | CA401723421 | TGIF1 | c.329A>C (p.Lys110Thr) c.389A>C (p.Lys130Thr) c.776A>C (p.Lys259Thr) c.*102A>C (n.*102A>C) c.431A>C (p.Lys144Thr) c.398A>C (p.Lys133Thr) | |
| 18 | g.3457510A>G | CA8875944 | TGIF1 | c.329A>G (p.Lys110Arg) c.389A>G (p.Lys130Arg) c.776A>G (p.Lys259Arg) c.*102A>G (n.*102A>G) c.431A>G (p.Lys144Arg) c.398A>G (p.Lys133Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457510A>T | CA401723422 | TGIF1 | c.329A>T (p.Lys110Ile) c.389A>T (p.Lys130Ile) c.776A>T (p.Lys259Ile) c.*102A>T (n.*102A>T) c.431A>T (p.Lys144Ile) c.398A>T (p.Lys133Ile) | |
| 18 | g.3457511A>C | CA401723423 | TGIF1 | c.330A>C (p.Lys110Asn) c.390A>C (p.Lys130Asn) c.777A>C (p.Lys259Asn) c.*103A>C (n.*103A>C) c.432A>C (p.Lys144Asn) c.399A>C (p.Lys133Asn) | |
| 18 | g.3457511A>G | CA502810466 | TGIF1 | c.330A>G (p.Lys110=) c.390A>G (p.Lys130=) c.777A>G (p.Lys259=) c.*103A>G (n.*103A>G) c.432A>G (p.Lys144=) c.399A>G (p.Lys133=) | |
| 18 | g.3457511A>T | CA401723424 | TGIF1 | c.330A>T (p.Lys110Asn) c.390A>T (p.Lys130Asn) c.777A>T (p.Lys259Asn) c.*103A>T (n.*103A>T) c.432A>T (p.Lys144Asn) c.399A>T (p.Lys133Asn) | |
| 18 | g.3457512A>C | CA401723425 | TGIF1 | c.331A>C (p.Asn111His) c.391A>C (p.Asn131His) c.778A>C (p.Asn260His) c.*104A>C (n.*104A>C) c.433A>C (p.Asn145His) c.400A>C (p.Asn134His) | |
| 18 | g.3457512A>G | CA401723426 | TGIF1 | c.331A>G (p.Asn111Asp) c.391A>G (p.Asn131Asp) c.778A>G (p.Asn260Asp) c.*104A>G (n.*104A>G) c.433A>G (p.Asn145Asp) c.400A>G (p.Asn134Asp) | |
| 18 | g.3457512A>T | CA401723427 | TGIF1 | c.331A>T (p.Asn111Tyr) c.391A>T (p.Asn131Tyr) c.778A>T (p.Asn260Tyr) c.*104A>T (n.*104A>T) c.433A>T (p.Asn145Tyr) c.400A>T (p.Asn134Tyr) | |
| 18 | g.3457513A>C | CA401723428 | TGIF1 | c.332A>C (p.Asn111Thr) c.392A>C (p.Asn131Thr) c.779A>C (p.Asn260Thr) c.*105A>C (n.*105A>C) c.434A>C (p.Asn145Thr) c.401A>C (p.Asn134Thr) | gnomAD v4 |
| 18 | g.3457513A>G | CA401723429 | TGIF1 | c.332A>G (p.Asn111Ser) c.392A>G (p.Asn131Ser) c.779A>G (p.Asn260Ser) c.*105A>G (n.*105A>G) c.434A>G (p.Asn145Ser) c.401A>G (p.Asn134Ser) | |
| 18 | g.3457513A>T | CA401723430 | TGIF1 | c.332A>T (p.Asn111Ile) c.392A>T (p.Asn131Ile) c.779A>T (p.Asn260Ile) c.*105A>T (n.*105A>T) c.434A>T (p.Asn145Ile) c.401A>T (p.Asn134Ile) | |
| 18 | g.3457514C>A | CA401723432 | TGIF1 | c.333C>A (p.Asn111Lys) c.393C>A (p.Asn131Lys) c.780C>A (p.Asn260Lys) c.*106C>A (n.*106C>A) c.435C>A (p.Asn145Lys) c.402C>A (p.Asn134Lys) | |
| 18 | g.3457514C>G | CA401723431 | TGIF1 | c.333C>G (p.Asn111Lys) c.393C>G (p.Asn131Lys) c.780C>G (p.Asn260Lys) c.*106C>G (n.*106C>G) c.435C>G (p.Asn145Lys) c.402C>G (p.Asn134Lys) | |
| 18 | g.3457514C>T | CA502810467 | TGIF1 | c.333C>T (p.Asn111=) c.393C>T (p.Asn131=) c.780C>T (p.Asn260=) c.*106C>T (n.*106C>T) c.435C>T (p.Asn145=) c.402C>T (p.Asn134=) | |
| 18 | g.3457515T>A | CA401723433 | TGIF1 | c.334T>A (p.Phe112Ile) c.394T>A (p.Phe132Ile) c.781T>A (p.Phe261Ile) c.*107T>A (n.*107T>A) c.436T>A (p.Phe146Ile) c.403T>A (p.Phe135Ile) | |
| 18 | g.3457515T>C | CA401723435 | TGIF1 | c.334T>C (p.Phe112Leu) c.394T>C (p.Phe132Leu) c.781T>C (p.Phe261Leu) c.*107T>C (n.*107T>C) c.436T>C (p.Phe146Leu) c.403T>C (p.Phe135Leu) | |
| 18 | g.3457515T>G | CA401723434 | TGIF1 | c.334T>G (p.Phe112Val) c.394T>G (p.Phe132Val) c.781T>G (p.Phe261Val) c.*107T>G (n.*107T>G) c.436T>G (p.Phe146Val) c.403T>G (p.Phe135Val) | |
| 18 | g.3457516T>A | CA401723436 | TGIF1 | c.335T>A (p.Phe112Tyr) c.395T>A (p.Phe132Tyr) c.782T>A (p.Phe261Tyr) c.*108T>A (n.*108T>A) c.437T>A (p.Phe146Tyr) c.404T>A (p.Phe135Tyr) | |
| 18 | g.3457516T>C | CA401723438 | TGIF1 | c.335T>C (p.Phe112Ser) c.395T>C (p.Phe132Ser) c.782T>C (p.Phe261Ser) c.*108T>C (n.*108T>C) c.437T>C (p.Phe146Ser) c.404T>C (p.Phe135Ser) | |
| 18 | g.3457516T>G | CA401723437 | TGIF1 | c.335T>G (p.Phe112Cys) c.395T>G (p.Phe132Cys) c.782T>G (p.Phe261Cys) c.*108T>G (n.*108T>G) c.437T>G (p.Phe146Cys) c.404T>G (p.Phe135Cys) | |
| 18 | g.3457517C>A | CA401723439 | TGIF1 | c.336C>A (p.Phe112Leu) c.396C>A (p.Phe132Leu) c.783C>A (p.Phe261Leu) c.*109C>A (n.*109C>A) c.438C>A (p.Phe146Leu) c.405C>A (p.Phe135Leu) | dbSNP gnomAD v2 |
| 18 | g.3457517C= | CA2281035549 | TGIF1 | c.336C= (p.Phe112=) c.396C= (p.Phe132=) c.783C= (p.Phe261=) c.*109C= (n.*109C=) c.438C= (p.Phe146=) c.405C= (p.Phe135=) | |
| 18 | g.3457517C>G | CA401723440 | TGIF1 | c.336C>G (p.Phe112Leu) c.396C>G (p.Phe132Leu) c.783C>G (p.Phe261Leu) c.*109C>G (n.*109C>G) c.438C>G (p.Phe146Leu) c.405C>G (p.Phe135Leu) | ClinVar |
| 18 | g.3457517C>T | CA502810469 | TGIF1 | c.336C>T (p.Phe112=) c.396C>T (p.Phe132=) c.783C>T (p.Phe261=) c.*109C>T (n.*109C>T) c.438C>T (p.Phe146=) c.405C>T (p.Phe135=) | |
| 18 | g.3457518A>C | CA401723441 | TGIF1 | c.337A>C (p.Met113Leu) c.397A>C (p.Met133Leu) c.784A>C (p.Met262Leu) c.*110A>C (n.*110A>C) c.439A>C (p.Met147Leu) c.406A>C (p.Met136Leu) | |
| 18 | g.3457518A>G | CA401723443 | TGIF1 | c.337A>G (p.Met113Val) c.397A>G (p.Met133Val) c.784A>G (p.Met262Val) c.*110A>G (n.*110A>G) c.439A>G (p.Met147Val) c.406A>G (p.Met136Val) | |
| 18 | g.3457518A>T | CA401723442 | TGIF1 | c.337A>T (p.Met113Leu) c.397A>T (p.Met133Leu) c.784A>T (p.Met262Leu) c.*110A>T (n.*110A>T) c.439A>T (p.Met147Leu) c.406A>T (p.Met136Leu) | |
| 18 | g.3457519T>A | CA401723444 | TGIF1 | c.338T>A (p.Met113Lys) c.398T>A (p.Met133Lys) c.785T>A (p.Met262Lys) c.*111T>A (n.*111T>A) c.440T>A (p.Met147Lys) c.407T>A (p.Met136Lys) | |
| 18 | g.3457519T>C | CA401723445 | TGIF1 | c.338T>C (p.Met113Thr) c.398T>C (p.Met133Thr) c.785T>C (p.Met262Thr) c.*111T>C (n.*111T>C) c.440T>C (p.Met147Thr) c.407T>C (p.Met136Thr) | |
| 18 | g.3457519T>G | CA401723446 | TGIF1 | c.338T>G (p.Met113Arg) c.398T>G (p.Met133Arg) c.785T>G (p.Met262Arg) c.*111T>G (n.*111T>G) c.440T>G (p.Met147Arg) c.407T>G (p.Met136Arg) | |
| 18 | g.3457520G>A | CA401723447 | TGIF1 | c.339G>A (p.Met113Ile) c.399G>A (p.Met133Ile) c.786G>A (p.Met262Ile) c.*112G>A (n.*112G>A) c.441G>A (p.Met147Ile) c.408G>A (p.Met136Ile) | |
| 18 | g.3457520G>C | CA401723448 | TGIF1 | c.339G>C (p.Met113Ile) c.399G>C (p.Met133Ile) c.786G>C (p.Met262Ile) c.*112G>C (n.*112G>C) c.441G>C (p.Met147Ile) c.408G>C (p.Met136Ile) | |
| 18 | g.3457520G>T | CA401723449 | TGIF1 | c.339G>T (p.Met113Ile) c.399G>T (p.Met133Ile) c.786G>T (p.Met262Ile) c.*112G>T (n.*112G>T) c.441G>T (p.Met147Ile) c.408G>T (p.Met136Ile) | gnomAD v4 |
| 18 | g.3457521C>A | CA401723450 | TGIF1 | c.340C>A (p.Pro114Thr) c.400C>A (p.Pro134Thr) c.787C>A (p.Pro263Thr) c.*113C>A (n.*113C>A) c.442C>A (p.Pro148Thr) c.409C>A (p.Pro137Thr) | gnomAD v4 |
| 18 | g.3457521C>G | CA401723451 | TGIF1 | c.340C>G (p.Pro114Ala) c.400C>G (p.Pro134Ala) c.787C>G (p.Pro263Ala) c.*113C>G (n.*113C>G) c.442C>G (p.Pro148Ala) c.409C>G (p.Pro137Ala) |