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 |
|---|---|---|---|---|---|
| 19 | g.29702735C>A | CA405142271 | C19orf12 | c.403G>T (p.Ala135Ser) n.794G>T c.211G>T (p.Ala71Ser) c.436G>T (p.Ala146Ser) c.*24G>T (n.*24G>T) c.565G>T (p.Ala189Ser) | dbSNP gnomAD v4 |
| 19 | g.29702735C= | CA2330913509 | C19orf12 | c.403G= (p.Ala135=) n.794G= c.211G= (p.Ala71=) c.436G= (p.Ala146=) c.*24G= (n.*24G=) c.565G= (p.Ala189=) | |
| 19 | g.29702735C>G | CA405142272 | C19orf12 | c.403G>C (p.Ala135Pro) n.794G>C c.211G>C (p.Ala71Pro) c.436G>C (p.Ala146Pro) c.*24G>C (n.*24G>C) c.565G>C (p.Ala189Pro) | |
| 19 | g.29702735C>T | CA405142270 | C19orf12 | c.403G>A (p.Ala135Thr) n.794G>A c.211G>A (p.Ala71Thr) c.436G>A (p.Ala146Thr) c.*24G>A (n.*24G>A) c.565G>A (p.Ala189Thr) | |
| 19 | g.29702737dup | CA2499225430 | C19orf12 | c.403dup (p.Ala135GlyfsTer6) n.794dup c.211dup (p.Ala71GlyfsTer6) c.436dup (p.Ala146GlyfsTer6) c.*24dup (n.*24dup) c.565dup (p.Ala189GlyfsTer6) | ClinVar dbSNP gnomAD v4 |
| 19 | g.29702736C>A | CA506986454 | C19orf12 | c.402G>T (p.Arg134=) n.793G>T c.210G>T (p.Arg70=) c.435G>T (p.Arg145=) c.*23G>T (n.*23G>T) c.564G>T (p.Arg188=) | |
| 19 | g.29702736C>G | CA506986456 | C19orf12 | c.402G>C (p.Arg134=) n.793G>C c.210G>C (p.Arg70=) c.435G>C (p.Arg145=) c.*23G>C (n.*23G>C) c.564G>C (p.Arg188=) | |
| 19 | g.29702736C>T | CA506986459 | C19orf12 | c.402G>A (p.Arg134=) n.793G>A c.210G>A (p.Arg70=) c.435G>A (p.Arg145=) c.*23G>A (n.*23G>A) c.564G>A (p.Arg188=) | |
| 19 | g.29702737C>A | CA405142273 | C19orf12 | c.401G>T (p.Arg134Leu) n.792G>T c.209G>T (p.Arg70Leu) c.434G>T (p.Arg145Leu) c.*22G>T (n.*22G>T) c.563G>T (p.Arg188Leu) | COSMIC COSMIC |
| 19 | g.29702737C= | CA2330913510 | C19orf12 | c.401G= (p.Arg134=) n.792G= c.209G= (p.Arg70=) c.434G= (p.Arg145=) c.*22G= (n.*22G=) c.563G= (p.Arg188=) | |
| 19 | g.29702737C>G | CA405142274 | C19orf12 | c.401G>C (p.Arg134Pro) n.792G>C c.209G>C (p.Arg70Pro) c.434G>C (p.Arg145Pro) c.*22G>C (n.*22G>C) c.563G>C (p.Arg188Pro) | |
| 19 | g.29702737C>T | CA9351867 | C19orf12 | c.401G>A (p.Arg134Gln) n.792G>A c.209G>A (p.Arg70Gln) c.434G>A (p.Arg145Gln) c.*22G>A (n.*22G>A) c.563G>A (p.Arg188Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702738G>A | CA405142275 | C19orf12 | c.400C>T (p.Arg134Trp) n.791C>T c.208C>T (p.Arg70Trp) c.433C>T (p.Arg145Trp) c.*21C>T (n.*21C>T) c.562C>T (p.Arg188Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.29702738G>C | CA405142276 | C19orf12 | c.400C>G (p.Arg134Gly) n.791C>G c.208C>G (p.Arg70Gly) c.433C>G (p.Arg145Gly) c.*21C>G (n.*21C>G) c.562C>G (p.Arg188Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.29702738G= | CA2330913511 | C19orf12 | c.400C= (p.Arg134=) n.791C= c.208C= (p.Arg70=) c.433C= (p.Arg145=) c.*21C= (n.*21C=) c.562C= (p.Arg188=) | |
| 19 | g.29702738G>T | CA506986474 | C19orf12 | c.400C>A (p.Arg134=) n.791C>A c.208C>A (p.Arg70=) c.433C>A (p.Arg145=) c.*21C>A (n.*21C>A) c.562C>A (p.Arg188=) | gnomAD v4 |
| 19 | g.29702739C>A | CA506986478 | C19orf12 | c.399G>T (p.Leu133=) n.790G>T c.207G>T (p.Leu69=) c.432G>T (p.Leu144=) c.*20G>T (n.*20G>T) c.561G>T (p.Leu187=) | |
| 19 | g.29702739C>G | CA506986481 | C19orf12 | c.399G>C (p.Leu133=) n.790G>C c.207G>C (p.Leu69=) c.432G>C (p.Leu144=) c.*20G>C (n.*20G>C) c.561G>C (p.Leu187=) | |
| 19 | g.29702739C>T | CA506986485 | C19orf12 | c.399G>A (p.Leu133=) n.790G>A c.207G>A (p.Leu69=) c.432G>A (p.Leu144=) c.*20G>A (n.*20G>A) c.561G>A (p.Leu187=) | |
| 19 | g.29702740A>C | CA405142277 | C19orf12 | c.398T>G (p.Leu133Arg) n.789T>G c.206T>G (p.Leu69Arg) c.431T>G (p.Leu144Arg) c.*19T>G (n.*19T>G) c.560T>G (p.Leu187Arg) | |
| 19 | g.29702740A>G | CA405142278 | C19orf12 | c.398T>C (p.Leu133Pro) n.789T>C c.206T>C (p.Leu69Pro) c.431T>C (p.Leu144Pro) c.*19T>C (n.*19T>C) c.560T>C (p.Leu187Pro) | |
| 19 | g.29702740A>T | CA405142284 | C19orf12 | c.398T>A (p.Leu133Gln) n.789T>A c.206T>A (p.Leu69Gln) c.431T>A (p.Leu144Gln) c.*19T>A (n.*19T>A) c.560T>A (p.Leu187Gln) | |
| 19 | g.29702741G>A | CA506986487 | C19orf12 | c.397C>T (p.Leu133=) n.788C>T c.205C>T (p.Leu69=) c.430C>T (p.Leu144=) c.*18C>T (n.*18C>T) c.559C>T (p.Leu187=) | gnomAD v4 COSMIC COSMIC |
| 19 | g.29702741G>C | CA405142287 | C19orf12 | c.397C>G (p.Leu133Val) n.788C>G c.205C>G (p.Leu69Val) c.430C>G (p.Leu144Val) c.*18C>G (n.*18C>G) c.559C>G (p.Leu187Val) | gnomAD v4 |
| 19 | g.29702741G>T | CA405142289 | C19orf12 | c.397C>A (p.Leu133Met) n.788C>A c.205C>A (p.Leu69Met) c.430C>A (p.Leu144Met) c.*18C>A (n.*18C>A) c.559C>A (p.Leu187Met) | |
| 19 | g.29702742C>A | CA405142291 | C19orf12 | c.396G>T (p.Glu132Asp) n.787G>T c.204G>T (p.Glu68Asp) c.429G>T (p.Glu143Asp) c.*17G>T (n.*17G>T) c.558G>T (p.Glu186Asp) | |
| 19 | g.29702742C= | CA2330913512 | C19orf12 | c.396G= (p.Glu132=) n.787G= c.204G= (p.Glu68=) c.429G= (p.Glu143=) c.*17G= (n.*17G=) c.558G= (p.Glu186=) | |
| 19 | g.29702742C>G | CA405142294 | C19orf12 | c.396G>C (p.Glu132Asp) n.787G>C c.204G>C (p.Glu68Asp) c.429G>C (p.Glu143Asp) c.*17G>C (n.*17G>C) c.558G>C (p.Glu186Asp) | |
| 19 | g.29702742C>T | CA9351868 | C19orf12 | c.396G>A (p.Glu132=) n.787G>A c.204G>A (p.Glu68=) c.429G>A (p.Glu143=) c.*17G>A (n.*17G>A) c.558G>A (p.Glu186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702743T>A | CA405142302 | C19orf12 | c.395A>T (p.Glu132Val) n.786A>T c.203A>T (p.Glu68Val) c.428A>T (p.Glu143Val) c.*16A>T (n.*16A>T) c.557A>T (p.Glu186Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.29702743T>C | CA405142300 | C19orf12 | c.395A>G (p.Glu132Gly) n.786A>G c.203A>G (p.Glu68Gly) c.428A>G (p.Glu143Gly) c.*16A>G (n.*16A>G) c.557A>G (p.Glu186Gly) | |
| 19 | g.29702743T>G | CA405142297 | C19orf12 | c.395A>C (p.Glu132Ala) n.786A>C c.203A>C (p.Glu68Ala) c.428A>C (p.Glu143Ala) c.*16A>C (n.*16A>C) c.557A>C (p.Glu186Ala) | |
| 19 | g.29702743T= | CA2330913513 | C19orf12 | c.395A= (p.Glu132=) n.786A= c.203A= (p.Glu68=) c.428A= (p.Glu143=) c.*16A= (n.*16A=) c.557A= (p.Glu186=) | |
| 19 | g.29702744C>A | CA405142305 | C19orf12 | c.394G>T (p.Glu132Ter) n.785G>T c.202G>T (p.Glu68Ter) c.427G>T (p.Glu143Ter) c.*15G>T (n.*15G>T) c.556G>T (p.Glu186Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.29702744C= | CA2330913514 | C19orf12 | c.394G= (p.Glu132=) n.785G= c.202G= (p.Glu68=) c.427G= (p.Glu143=) c.*15G= (n.*15G=) c.556G= (p.Glu186=) | |
| 19 | g.29702744C>G | CA405142307 | C19orf12 | c.394G>C (p.Glu132Gln) n.785G>C c.202G>C (p.Glu68Gln) c.427G>C (p.Glu143Gln) c.*15G>C (n.*15G>C) c.556G>C (p.Glu186Gln) | ClinVar dbSNP gnomAD v4 |
| 19 | g.29702744C>T | CA405142309 | C19orf12 | c.394G>A (p.Glu132Lys) n.785G>A c.202G>A (p.Glu68Lys) c.427G>A (p.Glu143Lys) c.*15G>A (n.*15G>A) c.556G>A (p.Glu186Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.29702745C>A | CA405142312 | C19orf12 | c.393G>T (p.Lys131Asn) n.784G>T c.201G>T (p.Lys67Asn) c.426G>T (p.Lys142Asn) c.*14G>T (n.*14G>T) c.555G>T (p.Lys185Asn) | |
| 19 | g.29702745C= | CA2330913515 | C19orf12 | c.393G= (p.Lys131=) n.784G= c.201G= (p.Lys67=) c.426G= (p.Lys142=) c.*14G= (n.*14G=) c.555G= (p.Lys185=) | |
| 19 | g.29702745C>G | CA9351869 | C19orf12 | c.393G>C (p.Lys131Asn) n.784G>C c.201G>C (p.Lys67Asn) c.426G>C (p.Lys142Asn) c.*14G>C (n.*14G>C) c.555G>C (p.Lys185Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.29702745C>T | CA506986521 | C19orf12 | c.393G>A (p.Lys131=) n.784G>A c.201G>A (p.Lys67=) c.426G>A (p.Lys142=) c.*14G>A (n.*14G>A) c.555G>A (p.Lys185=) | gnomAD v4 |
| 19 | g.29702746T>A | CA405142321 | C19orf12 | c.392A>T (p.Lys131Met) n.783A>T c.200A>T (p.Lys67Met) c.425A>T (p.Lys142Met) c.*13A>T (n.*13A>T) c.554A>T (p.Lys185Met) | |
| 19 | g.29702746T>C | CA405142322 | C19orf12 | c.392A>G (p.Lys131Arg) n.783A>G c.200A>G (p.Lys67Arg) c.425A>G (p.Lys142Arg) c.*13A>G (n.*13A>G) c.554A>G (p.Lys185Arg) | dbSNP |
| 19 | g.29702746T>G | CA152062 | C19orf12 | c.392A>C (p.Lys131Thr) n.783A>C c.200A>C (p.Lys67Thr) c.425A>C (p.Lys142Thr) c.*13A>C (n.*13A>C) c.554A>C (p.Lys185Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702746T= | CA2330913516 | C19orf12 | c.392A= (p.Lys131=) n.783A= c.200A= (p.Lys67=) c.425A= (p.Lys142=) c.*13A= (n.*13A=) c.554A= (p.Lys185=) | |
| 19 | g.29702747T>A | CA405142324 | C19orf12 | c.391A>T (p.Lys131Ter) n.782A>T c.199A>T (p.Lys67Ter) c.424A>T (p.Lys142Ter) c.*12A>T (n.*12A>T) c.553A>T (p.Lys185Ter) | |
| 19 | g.29702747T>C | CA259994 | C19orf12 | c.391A>G (p.Lys131Glu) n.782A>G c.199A>G (p.Lys67Glu) c.424A>G (p.Lys142Glu) c.*12A>G (n.*12A>G) c.553A>G (p.Lys185Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702747T>G | CA405142325 | C19orf12 | c.391A>C (p.Lys131Gln) n.782A>C c.199A>C (p.Lys67Gln) c.424A>C (p.Lys142Gln) c.*12A>C (n.*12A>C) c.553A>C (p.Lys185Gln) | |
| 19 | g.29702747T= | CA2330913517 | C19orf12 | c.391A= (p.Lys131=) n.782A= c.199A= (p.Lys67=) c.424A= (p.Lys142=) c.*12A= (n.*12A=) c.553A= (p.Lys185=) | |
| 19 | g.29702748G>A | CA506986537 | C19orf12 | c.390C>T (p.Thr130=) n.781C>T c.198C>T (p.Thr66=) c.423C>T (p.Thr141=) c.*11C>T (n.*11C>T) c.552C>T (p.Thr184=) | dbSNP gnomAD v4 |