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 |
|---|---|---|---|---|---|
| 19 | g.58487971_58488027delinsAGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATG | CA2344950055 | SLC27A5,ZNF446 | c.*22-4381_*22-4325delinsCATGAACAGGGTGTGTGGCCATGAGCAAGGCAGGTGAAGCCCTGTCCTCACAGTGCT (n.*22-4381_*22-4325delinsCATGAACAGGGTGTGTGGCCATGAGCAAGGCAGGTGAAGCCCTGTCCTCACAGTGCT) c.803-1319_803-1263delinsAGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATG (n.803-1319_803-1263delinsAGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATG) c.1005-1319_1005-1263delinsAGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATG (n.1005-1319_1005-1263delinsAGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATG) | |
| 19 | g.58487971_58488083delinsAGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATG | CA2344950054 | SLC27A5,ZNF446 | c.*22-4437_*22-4325delinsCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGCCATGAGCAAGGCAGGTGAAGCCCTGTCCTCACAGTGCT (n.*22-4437_*22-4325delinsCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGCCATGAGCAAGGCAGGTGAAGCCCTGTCCTCACAGTGCT) c.803-1319_803-1207delinsAGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATG (n.803-1319_803-1207delinsAGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATG) c.1005-1319_1005-1207delinsAGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATG (n.1005-1319_1005-1207delinsAGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATG) | |
| 19 | g.58487971_58488139delinsAGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATG | CA2344950053 | SLC27A5,ZNF446 | c.*22-4493_*22-4325delinsCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGCCATGAGCAAGGCAGGTGAAGCCCTGTCCTCACAGTGCT (n.*22-4493_*22-4325delinsCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGCCATGAGCAAGGCAGGTGAAGCCCTGTCCTCACAGTGCT) c.803-1319_803-1151delinsAGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATG (n.803-1319_803-1151delinsAGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATG) c.1005-1319_1005-1151delinsAGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATG (n.1005-1319_1005-1151delinsAGCACTGTGAGGACAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATG) | |
| 19 | g.58487983_58488038del | CA634058692 | SLC27A5,ZNF446 | c.*22-4381_*22-4326del (n.*22-4381_*22-4326del) c.803-1307_803-1252del (n.803-1307_803-1252del) c.1005-1307_1005-1252del (n.1005-1307_1005-1252del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58487983_58488094del | CA634058690 | SLC27A5,ZNF446 | c.*22-4437_*22-4326del (n.*22-4437_*22-4326del) c.803-1307_803-1196del (n.803-1307_803-1196del) c.1005-1307_1005-1196del (n.1005-1307_1005-1196del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58487983_58488150del | CA997545959 | SLC27A5,ZNF446 | c.*22-4493_*22-4326del (n.*22-4493_*22-4326del) c.803-1307_803-1140del (n.803-1307_803-1140del) c.1005-1307_1005-1140del (n.1005-1307_1005-1140del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58487983A= | CA2344950066 | SLC27A5,ZNF446 | c.*22-4337T= (n.*22-4337T=) c.803-1307A= (n.803-1307A=) c.1005-1307A= (n.1005-1307A=) | |
| 19 | g.58487983A>G | CA14707788 | SLC27A5,ZNF446 | c.*22-4337T>C (n.*22-4337T>C) c.803-1307A>G (n.803-1307A>G) c.1005-1307A>G (n.1005-1307A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58487983_58487984insGGGCTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGG | CA997545971 | SLC27A5,ZNF446 | c.*22-4338_*22-4337insCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGCCC (n.*22-4338_*22-4337insCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGCCC) c.803-1307_803-1306insGGGCTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGG (n.803-1307_803-1306insGGGCTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGG) c.1005-1307_1005-1306insGGGCTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGG (n.1005-1307_1005-1306insGGGCTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGG) | gnomAD v3 gnomAD v4 |
| 19 | g.58487983_58487984insGGGCTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGG | CA634058702 | SLC27A5,ZNF446 | c.*22-4338_*22-4337insCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGCCC (n.*22-4338_*22-4337insCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGCCC) c.803-1307_803-1306insGGGCTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGG (n.803-1307_803-1306insGGGCTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGG) c.1005-1307_1005-1306insGGGCTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGG (n.1005-1307_1005-1306insGGGCTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58487985A= | CA2344950067 | SLC27A5,ZNF446 | c.*22-4339T= (n.*22-4339T=) c.803-1305A= (n.803-1305A=) c.1005-1305A= (n.1005-1305A=) | |
| 19 | g.58487985A>G | CA310592660 | SLC27A5,ZNF446 | c.*22-4339T>C (n.*22-4339T>C) c.803-1305A>G (n.803-1305A>G) c.1005-1305A>G (n.1005-1305A>G) | dbSNP |
| 19 | g.58487987G>C | CA2344950069 | SLC27A5,ZNF446 | c.*22-4341C>G (n.*22-4341C>G) c.803-1303G>C (n.803-1303G>C) c.1005-1303G>C (n.1005-1303G>C) | dbSNP |
| 19 | g.58487987G= | CA2344950068 | SLC27A5,ZNF446 | c.*22-4341C= (n.*22-4341C=) c.803-1303G= (n.803-1303G=) c.1005-1303G= (n.1005-1303G=) | |
| 19 | g.58487988G>A | CA884062208 | SLC27A5,ZNF446 | c.*22-4342C>T (n.*22-4342C>T) c.803-1302G>A (n.803-1302G>A) c.1005-1302G>A (n.1005-1302G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58487988G= | CA2344950072 | SLC27A5,ZNF446 | c.*22-4342C= (n.*22-4342C=) c.803-1302G= (n.803-1302G=) c.1005-1302G= (n.1005-1302G=) | |
| 19 | g.58487988G>T | CA310592661 | SLC27A5,ZNF446 | c.*22-4342C>A (n.*22-4342C>A) c.803-1302G>T (n.803-1302G>T) c.1005-1302G>T (n.1005-1302G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58487988_58488044delinsGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGA | CA2344950071 | SLC27A5,ZNF446 | c.*22-4398_*22-4342delinsTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGCCATGAGCAAGGCAGGTGAAGC (n.*22-4398_*22-4342delinsTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGCCATGAGCAAGGCAGGTGAAGC) c.803-1302_803-1246delinsGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGA (n.803-1302_803-1246delinsGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGA) c.1005-1302_1005-1246delinsGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGA (n.1005-1302_1005-1246delinsGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGA) | |
| 19 | g.58487988_58488100delinsGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGA | CA2344950070 | SLC27A5,ZNF446 | c.*22-4454_*22-4342delinsTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGCCATGAGCAAGGCAGGTGAAGC (n.*22-4454_*22-4342delinsTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGCCATGAGCAAGGCAGGTGAAGC) c.803-1302_803-1190delinsGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGA (n.803-1302_803-1190delinsGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGA) c.1005-1302_1005-1190delinsGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGA (n.1005-1302_1005-1190delinsGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGA) | |
| 19 | g.58488004_58488059dup | CA634058704 | SLC27A5,ZNF446 | c.*22-4398_*22-4343dup (n.*22-4398_*22-4343dup) c.803-1286_803-1231dup (n.803-1286_803-1231dup) c.1005-1286_1005-1231dup (n.1005-1286_1005-1231dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488004_58488059del | CA997545979 | SLC27A5,ZNF446 | c.*22-4398_*22-4343del (n.*22-4398_*22-4343del) c.803-1286_803-1231del (n.803-1286_803-1231del) c.1005-1286_1005-1231del (n.1005-1286_1005-1231del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488004_58488115del | CA997545980 | SLC27A5,ZNF446 | c.*22-4454_*22-4343del (n.*22-4454_*22-4343del) c.803-1286_803-1175del (n.803-1286_803-1175del) c.1005-1286_1005-1175del (n.1005-1286_1005-1175del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58487991T= | CA2344950073 | SLC27A5,ZNF446 | c.*22-4345A= (n.*22-4345A=) c.803-1299T= (n.803-1299T=) c.1005-1299T= (n.1005-1299T=) | |
| 19 | g.58487992C= | CA2344950074 | SLC27A5,ZNF446 | c.*22-4346G= (n.*22-4346G=) c.803-1298C= (n.803-1298C=) c.1005-1298C= (n.1005-1298C=) | |
| 19 | g.58487992C>T | CA2344950075 | SLC27A5,ZNF446 | c.*22-4346G>A (n.*22-4346G>A) c.803-1298C>T (n.803-1298C>T) c.1005-1298C>T (n.1005-1298C>T) | dbSNP |
| 19 | g.58487993_58487994dup | CA634058707 | SLC27A5,ZNF446 | c.*22-4347_*22-4346dup (n.*22-4347_*22-4346dup) c.803-1297_803-1296dup (n.803-1297_803-1296dup) c.1005-1297_1005-1296dup (n.1005-1297_1005-1296dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58487994C= | CA2344950076 | SLC27A5,ZNF446 | c.*22-4348G= (n.*22-4348G=) c.803-1296C= (n.803-1296C=) c.1005-1296C= (n.1005-1296C=) | |
| 19 | g.58487994C>G | CA2344950077 | SLC27A5,ZNF446 | c.*22-4348G>C (n.*22-4348G>C) c.803-1296C>G (n.803-1296C>G) c.1005-1296C>G (n.1005-1296C>G) | dbSNP |
| 19 | g.58487994C>T | CA2344950078 | SLC27A5,ZNF446 | c.*22-4348G>A (n.*22-4348G>A) c.803-1296C>T (n.803-1296C>T) c.1005-1296C>T (n.1005-1296C>T) | dbSNP |
| 19 | g.58487995del | CA2553178867 | SLC27A5,ZNF446 | c.*22-4348del (n.*22-4348del) c.803-1295del (n.803-1295del) c.1005-1295del (n.1005-1295del) | |
| 19 | g.58487995C>A | CA884062214 | SLC27A5,ZNF446 | c.*22-4349G>T (n.*22-4349G>T) c.803-1295C>A (n.803-1295C>A) c.1005-1295C>A (n.1005-1295C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58487995C= | CA2344950079 | SLC27A5,ZNF446 | c.*22-4349G= (n.*22-4349G=) c.803-1295C= (n.803-1295C=) c.1005-1295C= (n.1005-1295C=) | |
| 19 | g.58488003_58488004insCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGC | CA997545983 | SLC27A5,ZNF446 | c.*22-4355_*22-4354insGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGGGCA (n.*22-4355_*22-4354insGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGGGCA) c.803-1287_803-1286insCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGC (n.803-1287_803-1286insCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGC) c.1005-1287_1005-1286insCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGC (n.1005-1287_1005-1286insCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGC) | gnomAD v3 gnomAD v4 |
| 19 | g.58488003C= | CA2344950080 | SLC27A5,ZNF446 | c.*22-4357G= (n.*22-4357G=) c.803-1287C= (n.803-1287C=) c.1005-1287C= (n.1005-1287C=) | |
| 19 | g.58488003_58488004insCCG | CA997545986 | SLC27A5,ZNF446 | c.*22-4358_*22-4357insCGG (n.*22-4358_*22-4357insCGG) c.803-1287_803-1286insCCG (n.803-1287_803-1286insCCG) c.1005-1287_1005-1286insCCG (n.1005-1287_1005-1286insCCG) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488003_58488004insCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCT | CA997545985 | SLC27A5,ZNF446 | c.*22-4358_*22-4357insAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGG (n.*22-4358_*22-4357insAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGG) c.803-1287_803-1286insCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCT (n.803-1287_803-1286insCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCT) c.1005-1287_1005-1286insCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCT (n.1005-1287_1005-1286insCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCT) | gnomAD v3 gnomAD v4 |
| 19 | g.58488003_58488004insCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTG | CA2506459705 | SLC27A5,ZNF446 | c.*22-4358_*22-4357insCAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGG (n.*22-4358_*22-4357insCAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGG) c.803-1287_803-1286insCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTG (n.803-1287_803-1286insCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTG) c.1005-1287_1005-1286insCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTG (n.1005-1287_1005-1286insCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTG) | |
| 19 | g.58488004T>C | CA310592662 | SLC27A5,ZNF446 | c.*22-4358A>G (n.*22-4358A>G) c.803-1286T>C (n.803-1286T>C) c.1005-1286T>C (n.1005-1286T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488004T= | CA2344950081 | SLC27A5,ZNF446 | c.*22-4358A= (n.*22-4358A=) c.803-1286T= (n.803-1286T=) c.1005-1286T= (n.1005-1286T=) | |
| 19 | g.58488004_58488005insGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCC | CA997545996 | SLC27A5,ZNF446 | c.*22-4359_*22-4358insGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTC (n.*22-4359_*22-4358insGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTC) c.803-1286_803-1285insGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCC (n.803-1286_803-1285insGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCC) c.1005-1286_1005-1285insGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCC (n.1005-1286_1005-1285insGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCC) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488005C= | CA2344950082 | SLC27A5,ZNF446 | c.*22-4359G= (n.*22-4359G=) c.803-1285C= (n.803-1285C=) c.1005-1285C= (n.1005-1285C=) | |
| 19 | g.58488005C>G | CA509303356 | SLC27A5,ZNF446 | c.*22-4359G>C (n.*22-4359G>C) c.803-1285C>G (n.803-1285C>G) c.1005-1285C>G (n.1005-1285C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488005C>T | CA310592670 | SLC27A5,ZNF446 | c.*22-4359G>A (n.*22-4359G>A) c.803-1285C>T (n.803-1285C>T) c.1005-1285C>T (n.1005-1285C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488005_58488006insGTGGCC | CA997545990 | SLC27A5,ZNF446 | c.*22-4359_*22-4358insGCCACG (n.*22-4359_*22-4358insGCCACG) c.803-1285_803-1284insGTGGCC (n.803-1285_803-1284insGTGGCC) c.1005-1285_1005-1284insGTGGCC (n.1005-1285_1005-1284insGTGGCC) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488099_58488100insGCTTCACCTGCCTTGCCCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGG | CA634058712 | SLC27A5,ZNF446 | c.*22-4359_*22-4358insGGCAAGGCAGGTGAAGCCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGCCATG (n.*22-4359_*22-4358insGGCAAGGCAGGTGAAGCCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGCCATG) c.803-1191_803-1190insGCTTCACCTGCCTTGCCCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGG (n.803-1191_803-1190insGCTTCACCTGCCTTGCCCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGG) c.1005-1191_1005-1190insGCTTCACCTGCCTTGCCCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGG (n.1005-1191_1005-1190insGCTTCACCTGCCTTGCCCATGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488006A= | CA2344950083 | SLC27A5,ZNF446 | c.*22-4360T= (n.*22-4360T=) c.803-1284A= (n.803-1284A=) c.1005-1284A= (n.1005-1284A=) | |
| 19 | g.58488006A>G | CA310592674 | SLC27A5,ZNF446 | c.*22-4360T>C (n.*22-4360T>C) c.803-1284A>G (n.803-1284A>G) c.1005-1284A>G (n.1005-1284A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488006A>T | CA2552700580 | SLC27A5,ZNF446 | c.*22-4360T>A (n.*22-4360T>A) c.803-1284A>T (n.803-1284A>T) c.1005-1284A>T (n.1005-1284A>T) | |
| 19 | g.58488006_58488007insCACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCG | CA997545998 | SLC27A5,ZNF446 | c.*22-4361_*22-4360insCGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTG (n.*22-4361_*22-4360insCGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTG) c.803-1284_803-1283insCACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCG (n.803-1284_803-1283insCACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCG) c.1005-1284_1005-1283insCACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCG (n.1005-1284_1005-1283insCACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCG) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488007T>C | CA310592681 | SLC27A5,ZNF446 | c.*22-4361A>G (n.*22-4361A>G) c.803-1283T>C (n.803-1283T>C) c.1005-1283T>C (n.1005-1283T>C) | dbSNP gnomAD v3 gnomAD v4 |