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 |
|---|---|---|---|---|---|
| 12 | g.112477983G>A | CA386791637 | PTPN11 | c.1060G>A (p.Val354Ile) c.946G>A (p.Val316Ile) c.52G>A (p.Val18Ile) c.1057G>A (p.Val353Ile) | |
| 12 | g.112477983G>C | CA386791638 | PTPN11 | c.1060G>C (p.Val354Leu) c.946G>C (p.Val316Leu) c.52G>C (p.Val18Leu) c.1057G>C (p.Val353Leu) | |
| 12 | g.112477983G>T | CA386791640 | PTPN11 | c.1060G>T (p.Val354Phe) c.946G>T (p.Val316Phe) c.52G>T (p.Val18Phe) c.1057G>T (p.Val353Phe) | |
| 12 | g.112477984T>A | CA386791642 | PTPN11 | c.1061T>A (p.Val354Asp) c.947T>A (p.Val316Asp) c.53T>A (p.Val18Asp) c.1058T>A (p.Val353Asp) | |
| 12 | g.112477984T>C | CA386791644 | PTPN11 | c.1061T>C (p.Val354Ala) c.947T>C (p.Val316Ala) c.53T>C (p.Val18Ala) c.1058T>C (p.Val353Ala) | |
| 12 | g.112477984T>G | CA386791645 | PTPN11 | c.1061T>G (p.Val354Gly) c.947T>G (p.Val316Gly) c.53T>G (p.Val18Gly) c.1058T>G (p.Val353Gly) | |
| 12 | g.112477985C>A | CA481888049 | PTPN11 | c.1062C>A (p.Val354=) c.948C>A (p.Val316=) c.54C>A (p.Val18=) c.1059C>A (p.Val353=) | dbSNP |
| 12 | g.112477985C= | CA2063775986 | PTPN11 | c.1062C= (p.Val354=) c.948C= (p.Val316=) c.54C= (p.Val18=) c.1059C= (p.Val353=) | |
| 12 | g.112477985C>G | CA481888050 | PTPN11 | c.1062C>G (p.Val354=) c.948C>G (p.Val316=) c.54C>G (p.Val18=) c.1059C>G (p.Val353=) | |
| 12 | g.112477985C>T | CA481888051 | PTPN11 | c.1062C>T (p.Val354=) c.948C>T (p.Val316=) c.54C>T (p.Val18=) c.1059C>T (p.Val353=) | dbSNP |
| 12 | g.112477986A>C | CA386791648 | PTPN11 | c.1063A>C (p.Met355Leu) c.949A>C (p.Met317Leu) c.55A>C (p.Met19Leu) c.1060A>C (p.Met354Leu) | |
| 12 | g.112477986A>G | CA386791649 | PTPN11 | c.1063A>G (p.Met355Val) c.949A>G (p.Met317Val) c.55A>G (p.Met19Val) c.1060A>G (p.Met354Val) | |
| 12 | g.112477986A>T | CA386791651 | PTPN11 | c.1063A>T (p.Met355Leu) c.949A>T (p.Met317Leu) c.55A>T (p.Met19Leu) c.1060A>T (p.Met354Leu) | |
| 12 | g.112477987T>A | CA386791653 | PTPN11 | c.1064T>A (p.Met355Lys) c.950T>A (p.Met317Lys) c.56T>A (p.Met19Lys) c.1061T>A (p.Met354Lys) | |
| 12 | g.112477987T>C | CA386791654 | PTPN11 | c.1064T>C (p.Met355Thr) c.950T>C (p.Met317Thr) c.56T>C (p.Met19Thr) c.1061T>C (p.Met354Thr) | dbSNP COSMIC |
| 12 | g.112477987T>G | CA386791655 | PTPN11 | c.1064T>G (p.Met355Arg) c.950T>G (p.Met317Arg) c.56T>G (p.Met19Arg) c.1061T>G (p.Met354Arg) | |
| 12 | g.112477987T= | CA2063775987 | PTPN11 | c.1064T= (p.Met355=) c.950T= (p.Met317=) c.56T= (p.Met19=) c.1061T= (p.Met354=) | |
| 12 | g.112477988G>A | CA386791659 | PTPN11 | c.1065G>A (p.Met355Ile) c.951G>A (p.Met317Ile) c.57G>A (p.Met19Ile) c.1062G>A (p.Met354Ile) | gnomAD v4 |
| 12 | g.112477988G>C | CA386791657 | PTPN11 | c.1065G>C (p.Met355Ile) c.951G>C (p.Met317Ile) c.57G>C (p.Met19Ile) c.1062G>C (p.Met354Ile) | |
| 12 | g.112477988G>T | CA386791656 | PTPN11 | c.1065G>T (p.Met355Ile) c.951G>T (p.Met317Ile) c.57G>T (p.Met19Ile) c.1062G>T (p.Met354Ile) | |
| 12 | g.112477989A>C | CA386791661 | PTPN11 | c.1066A>C (p.Thr356Pro) c.952A>C (p.Thr318Pro) c.58A>C (p.Thr20Pro) c.1063A>C (p.Thr355Pro) | |
| 12 | g.112477989A>G | CA386791663 | PTPN11 | c.1066A>G (p.Thr356Ala) c.952A>G (p.Thr318Ala) c.58A>G (p.Thr20Ala) c.1063A>G (p.Thr355Ala) | |
| 12 | g.112477989A>T | CA386791664 | PTPN11 | c.1066A>T (p.Thr356Ser) c.952A>T (p.Thr318Ser) c.58A>T (p.Thr20Ser) c.1063A>T (p.Thr355Ser) | |
| 12 | g.112477990C>A | CA386791666 | PTPN11 | c.1067C>A (p.Thr356Lys) c.953C>A (p.Thr318Lys) c.59C>A (p.Thr20Lys) c.1064C>A (p.Thr355Lys) | |
| 12 | g.112477990C>G | CA386791668 | PTPN11 | c.1067C>G (p.Thr356Arg) c.953C>G (p.Thr318Arg) c.59C>G (p.Thr20Arg) c.1064C>G (p.Thr355Arg) | |
| 12 | g.112477990C>T | CA386791669 | PTPN11 | c.1067C>T (p.Thr356Ile) c.953C>T (p.Thr318Ile) c.59C>T (p.Thr20Ile) c.1064C>T (p.Thr355Ile) | |
| 12 | g.112477991A>C | CA481888052 | PTPN11 | c.1068A>C (p.Thr356=) c.954A>C (p.Thr318=) c.60A>C (p.Thr20=) c.1065A>C (p.Thr355=) | |
| 12 | g.112477991A>G | CA481888053 | PTPN11 | c.1068A>G (p.Thr356=) c.954A>G (p.Thr318=) c.60A>G (p.Thr20=) c.1065A>G (p.Thr355=) | gnomAD v4 |
| 12 | g.112477991A>T | CA481888054 | PTPN11 | c.1068A>T (p.Thr356=) c.954A>T (p.Thr318=) c.60A>T (p.Thr20=) c.1065A>T (p.Thr355=) | |
| 12 | g.112477992A= | CA2063775988 | PTPN11 | c.1069A= (p.Thr357=) c.955A= (p.Thr319=) c.61A= (p.Thr21=) c.1066A= (p.Thr356=) | |
| 12 | g.112477992A>C | CA386791672 | PTPN11 | c.1069A>C (p.Thr357Pro) c.955A>C (p.Thr319Pro) c.61A>C (p.Thr21Pro) c.1066A>C (p.Thr356Pro) | |
| 12 | g.112477992A>G | CA6798705 | PTPN11 | c.1069A>G (p.Thr357Ala) c.955A>G (p.Thr319Ala) c.61A>G (p.Thr21Ala) c.1066A>G (p.Thr356Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.112477992A>T | CA386791674 | PTPN11 | c.1069A>T (p.Thr357Ser) c.955A>T (p.Thr319Ser) c.61A>T (p.Thr21Ser) c.1066A>T (p.Thr356Ser) | |
| 12 | g.112477993del | CA2573147995 | PTPN11 | c.1070del (p.Thr357ArgfsTer21) c.956del (p.Thr319ArgfsTer21) c.62del (p.Thr21ArgfsTer21) c.1067del (p.Thr356ArgfsTer21) | ClinVar dbSNP |
| 12 | g.112477993C>A | CA386791675 | PTPN11 | c.1070C>A (p.Thr357Lys) c.956C>A (p.Thr319Lys) c.62C>A (p.Thr21Lys) c.1067C>A (p.Thr356Lys) | |
| 12 | g.112477993C>G | CA386791676 | PTPN11 | c.1070C>G (p.Thr357Arg) c.956C>G (p.Thr319Arg) c.62C>G (p.Thr21Arg) c.1067C>G (p.Thr356Arg) | dbSNP |
| 12 | g.112477993C>T | CA386791678 | PTPN11 | c.1070C>T (p.Thr357Met) c.956C>T (p.Thr319Met) c.62C>T (p.Thr21Met) c.1067C>T (p.Thr356Met) | dbSNP gnomAD v4 |
| 12 | g.112477994G>A | CA6798706 | PTPN11 | c.1071G>A (p.Thr357=) c.957G>A (p.Thr319=) c.63G>A (p.Thr21=) c.1068G>A (p.Thr356=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112477994G>C | CA481888055 | PTPN11 | c.1071G>C (p.Thr357=) c.957G>C (p.Thr319=) c.63G>C (p.Thr21=) c.1068G>C (p.Thr356=) | ClinVar dbSNP |
| 12 | g.112477994G= | CA2063775989 | PTPN11 | c.1071G= (p.Thr357=) c.957G= (p.Thr319=) c.63G= (p.Thr21=) c.1068G= (p.Thr356=) | |
| 12 | g.112477994G>T | CA481888056 | PTPN11 | c.1071G>T (p.Thr357=) c.957G>T (p.Thr319=) c.63G>T (p.Thr21=) c.1068G>T (p.Thr356=) | |
| 12 | g.112477995A>C | CA386791681 | PTPN11 | c.1072A>C (p.Lys358Gln) c.958A>C (p.Lys320Gln) c.64A>C (p.Lys22Gln) c.1069A>C (p.Lys357Gln) | |
| 12 | g.112477995A>G | CA386791686 | PTPN11 | c.1072A>G (p.Lys358Glu) c.958A>G (p.Lys320Glu) c.64A>G (p.Lys22Glu) c.1069A>G (p.Lys357Glu) | |
| 12 | g.112477995A>T | CA386791683 | PTPN11 | c.1072A>T (p.Lys358Ter) c.958A>T (p.Lys320Ter) c.64A>T (p.Lys22Ter) c.1069A>T (p.Lys357Ter) | |
| 12 | g.112477996A>C | CA386791688 | PTPN11 | c.1073A>C (p.Lys358Thr) c.959A>C (p.Lys320Thr) c.65A>C (p.Lys22Thr) c.1070A>C (p.Lys357Thr) | |
| 12 | g.112477996A>G | CA386791691 | PTPN11 | c.1073A>G (p.Lys358Arg) c.959A>G (p.Lys320Arg) c.65A>G (p.Lys22Arg) c.1070A>G (p.Lys357Arg) | |
| 12 | g.112477996A>T | CA386791689 | PTPN11 | c.1073A>T (p.Lys358Ile) c.959A>T (p.Lys320Ile) c.65A>T (p.Lys22Ile) c.1070A>T (p.Lys357Ile) | |
| 12 | g.112477997A>C | CA386791693 | PTPN11 | c.1074A>C (p.Lys358Asn) c.960A>C (p.Lys320Asn) c.66A>C (p.Lys22Asn) c.1071A>C (p.Lys357Asn) | |
| 12 | g.112477997A>G | CA481888057 | PTPN11 | c.1074A>G (p.Lys358=) c.960A>G (p.Lys320=) c.66A>G (p.Lys22=) c.1071A>G (p.Lys357=) | |
| 12 | g.112477997A>T | CA386791694 | PTPN11 | c.1074A>T (p.Lys358Asn) c.960A>T (p.Lys320Asn) c.66A>T (p.Lys22Asn) c.1071A>T (p.Lys357Asn) |