OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| 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.58487982_58487983insGCAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGG | CA2582300729 | SLC27A5,ZNF446 | c.*22-4326_*22-4325insCATGAACAGGGTGTGTGGCCATGAGCAAGGCAGGTGAAGCCCTGCCCTCACAGTGC (n.*22-4326_*22-4325insCATGAACAGGGTGTGTGGCCATGAGCAAGGCAGGTGAAGCCCTGCCCTCACAGTGC) c.803-1308_803-1307insGCAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGG (n.803-1308_803-1307insGCAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGG) c.1005-1308_1005-1307insGCAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGG (n.1005-1308_1005-1307insGCAGGGCTTCACCTGCCTTGCTCATGGCCACACACCCTGTTCATGGCACTGTGAGG) | gnomAD v3 gnomAD v4 |
| 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.58487976T>C | CA634058693 | SLC27A5,ZNF446 | c.*22-4330A>G (n.*22-4330A>G) c.803-1314T>C (n.803-1314T>C) c.1005-1314T>C (n.1005-1314T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58487976T= | CA2344950056 | SLC27A5,ZNF446 | c.*22-4330A= (n.*22-4330A=) c.803-1314T= (n.803-1314T=) c.1005-1314T= (n.1005-1314T=) | |
| 19 | g.58487977G>A | CA2344950058 | SLC27A5,ZNF446 | c.*22-4331C>T (n.*22-4331C>T) c.803-1313G>A (n.803-1313G>A) c.1005-1313G>A (n.1005-1313G>A) | dbSNP |
| 19 | g.58487977G>C | CA2344950059 | SLC27A5,ZNF446 | c.*22-4331C>G (n.*22-4331C>G) c.803-1313G>C (n.803-1313G>C) c.1005-1313G>C (n.1005-1313G>C) | dbSNP |
| 19 | g.58487977G= | CA2344950057 | SLC27A5,ZNF446 | c.*22-4331C= (n.*22-4331C=) c.803-1313G= (n.803-1313G=) c.1005-1313G= (n.1005-1313G=) | |
| 19 | g.58487977G>T | CA884062195 | SLC27A5,ZNF446 | c.*22-4331C>A (n.*22-4331C>A) c.803-1313G>T (n.803-1313G>T) c.1005-1313G>T (n.1005-1313G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58487979G>A | CA310592646 | SLC27A5,ZNF446 | c.*22-4333C>T (n.*22-4333C>T) c.803-1311G>A (n.803-1311G>A) c.1005-1311G>A (n.1005-1311G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58487979G= | CA2344950060 | SLC27A5,ZNF446 | c.*22-4333C= (n.*22-4333C=) c.803-1311G= (n.803-1311G=) c.1005-1311G= (n.1005-1311G=) | |
| 19 | g.58487980A= | CA2344950061 | SLC27A5,ZNF446 | c.*22-4334T= (n.*22-4334T=) c.803-1310A= (n.803-1310A=) c.1005-1310A= (n.1005-1310A=) | |
| 19 | g.58487980A>T | CA2344950062 | SLC27A5,ZNF446 | c.*22-4334T>A (n.*22-4334T>A) c.803-1310A>T (n.803-1310A>T) c.1005-1310A>T (n.1005-1310A>T) | dbSNP |
| 19 | g.58487981G>A | CA310592654 | SLC27A5,ZNF446 | c.*22-4335C>T (n.*22-4335C>T) c.803-1309G>A (n.803-1309G>A) c.1005-1309G>A (n.1005-1309G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58487981G>C | CA2344950064 | SLC27A5,ZNF446 | c.*22-4335C>G (n.*22-4335C>G) c.803-1309G>C (n.803-1309G>C) c.1005-1309G>C (n.1005-1309G>C) | dbSNP |
| 19 | g.58487981G= | CA2344950063 | SLC27A5,ZNF446 | c.*22-4335C= (n.*22-4335C=) c.803-1309G= (n.803-1309G=) c.1005-1309G= (n.1005-1309G=) | |
| 19 | g.58487982G>A | CA884062201 | SLC27A5,ZNF446 | c.*22-4336C>T (n.*22-4336C>T) c.803-1308G>A (n.803-1308G>A) c.1005-1308G>A (n.1005-1308G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58487982G= | CA2344950065 | SLC27A5,ZNF446 | c.*22-4336C= (n.*22-4336C=) c.803-1308G= (n.803-1308G=) c.1005-1308G= (n.1005-1308G=) | |
| 19 | g.58487982_58487983insGC | CA634058698 | SLC27A5,ZNF446 | c.*22-4337_*22-4336insGC (n.*22-4337_*22-4336insGC) c.803-1308_803-1307insGC (n.803-1308_803-1307insGC) c.1005-1308_1005-1307insGC (n.1005-1308_1005-1307insGC) | gnomAD v2 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.58488006_58488007insCACACCCTGTTCATGGCACTGTGAGGGCAGGGCTTCACCTGCCTTGCTCGTGGCCACACACCTTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCG | CA2814983404 | SLC27A5,ZNF446 | c.*22-4361_*22-4360insCGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAAGGTGTGTGGCCACGAGCAAGGCAGGTGAAGCCCTGCCCTCACAGTGCCATGAACAGGGTGTG (n.*22-4361_*22-4360insCGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAAGGTGTGTGGCCACGAGCAAGGCAGGTGAAGCCCTGCCCTCACAGTGCCATGAACAGGGTGTG) c.803-1284_803-1283insCACACCCTGTTCATGGCACTGTGAGGGCAGGGCTTCACCTGCCTTGCTCGTGGCCACACACCTTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCG (n.803-1284_803-1283insCACACCCTGTTCATGGCACTGTGAGGGCAGGGCTTCACCTGCCTTGCTCGTGGCCACACACCTTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCG) c.1005-1284_1005-1283insCACACCCTGTTCATGGCACTGTGAGGGCAGGGCTTCACCTGCCTTGCTCGTGGCCACACACCTTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCG (n.1005-1284_1005-1283insCACACCCTGTTCATGGCACTGTGAGGGCAGGGCTTCACCTGCCTTGCTCGTGGCCACACACCTTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCG) | |
| 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 |
| 19 | g.58488007T= | CA2344950084 | SLC27A5,ZNF446 | c.*22-4361A= (n.*22-4361A=) c.803-1283T= (n.803-1283T=) c.1005-1283T= (n.1005-1283T=) | |
| 19 | g.58488038_58488039insACAGGTCTTCACCTGCCTTGCTCGTGGCCACACACCCTGTTCATGGCACTGTGAGG | CA2582300730 | SLC27A5,ZNF446 | c.*22-4361_*22-4360insCGAGCAAGGCAGGTGAAGACCTGTCCTCACAGTGCCATGAACAGGGTGTGTGGCCA (n.*22-4361_*22-4360insCGAGCAAGGCAGGTGAAGACCTGTCCTCACAGTGCCATGAACAGGGTGTGTGGCCA) c.803-1252_803-1251insACAGGTCTTCACCTGCCTTGCTCGTGGCCACACACCCTGTTCATGGCACTGTGAGG (n.803-1252_803-1251insACAGGTCTTCACCTGCCTTGCTCGTGGCCACACACCCTGTTCATGGCACTGTGAGG) c.1005-1252_1005-1251insACAGGTCTTCACCTGCCTTGCTCGTGGCCACACACCCTGTTCATGGCACTGTGAGG (n.1005-1252_1005-1251insACAGGTCTTCACCTGCCTTGCTCGTGGCCACACACCCTGTTCATGGCACTGTGAGG) | gnomAD v3 gnomAD v4 |
| 19 | g.58488059_58488060insTCGTGGCCACACACCTTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGC | CA2814983405 | SLC27A5,ZNF446 | c.*22-4361_*22-4360insCGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAAGGTGTGTGGCCACGAGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGCCA (n.*22-4361_*22-4360insCGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAAGGTGTGTGGCCACGAGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGCCA) c.803-1231_803-1230insTCGTGGCCACACACCTTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGC (n.803-1231_803-1230insTCGTGGCCACACACCTTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGC) c.1005-1231_1005-1230insTCGTGGCCACACACCTTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGC (n.1005-1231_1005-1230insTCGTGGCCACACACCTTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGC) | |
| 19 | g.58488009G>A | CA310592686 | SLC27A5,ZNF446 | c.*22-4363C>T (n.*22-4363C>T) c.803-1281G>A (n.803-1281G>A) c.1005-1281G>A (n.1005-1281G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488009G>C | CA997546003 | SLC27A5,ZNF446 | c.*22-4363C>G (n.*22-4363C>G) c.803-1281G>C (n.803-1281G>C) c.1005-1281G>C (n.1005-1281G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488009G= | CA2344950087 | SLC27A5,ZNF446 | c.*22-4363C= (n.*22-4363C=) c.803-1281G= (n.803-1281G=) c.1005-1281G= (n.1005-1281G=) | |
| 19 | g.58488009_58488011delinsGCC | CA2344950086 | SLC27A5,ZNF446 | c.*22-4365_*22-4363delinsGGC (n.*22-4365_*22-4363delinsGGC) c.803-1281_803-1279delinsGCC (n.803-1281_803-1279delinsGCC) c.1005-1281_1005-1279delinsGCC (n.1005-1281_1005-1279delinsGCC) | |
| 19 | g.58488009_58488121delinsGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGA | CA2344950085 | SLC27A5,ZNF446 | c.*22-4475_*22-4363delinsTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGC (n.*22-4475_*22-4363delinsTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTGCCATGAACAGGGTGTGTGGC) c.803-1281_803-1169delinsGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGA (n.803-1281_803-1169delinsGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGA) c.1005-1281_1005-1169delinsGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGA (n.1005-1281_1005-1169delinsGCCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGACCACACACCCTGTTCATGGCACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGA) | |
| 19 | g.58488010C>A | CA997546013 | SLC27A5,ZNF446 | c.*22-4364G>T (n.*22-4364G>T) c.803-1280C>A (n.803-1280C>A) c.1005-1280C>A (n.1005-1280C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488010C= | CA2344950088 | SLC27A5,ZNF446 | c.*22-4364G= (n.*22-4364G=) c.803-1280C= (n.803-1280C=) c.1005-1280C= (n.1005-1280C=) | |
| 19 | g.58488010C>G | CA310592687 | SLC27A5,ZNF446 | c.*22-4364G>C (n.*22-4364G>C) c.803-1280C>G (n.803-1280C>G) c.1005-1280C>G (n.1005-1280C>G) | dbSNP |
| 19 | g.58488010_58488011insACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGAC | CA997546008 | SLC27A5,ZNF446 | c.*22-4364_*22-4363insTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTG (n.*22-4364_*22-4363insTCACGGGCAAGGCAGGTGAAGTCCTGCCCTCACAGTG) c.803-1280_803-1279insACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGAC (n.803-1280_803-1279insACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGAC) c.1005-1280_1005-1279insACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGAC (n.1005-1280_1005-1279insACTGTGAGGGCAGGACTTCACCTGCCTTGCCCGTGAC) | gnomAD v3 gnomAD v4 |
| 19 | g.58488010_58488011del | CA997546010 | SLC27A5,ZNF446 | c.*22-4365_*22-4364del (n.*22-4365_*22-4364del) c.803-1280_803-1279del (n.803-1280_803-1279del) c.1005-1280_1005-1279del (n.1005-1280_1005-1279del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488151_58488206del | CA634058723 | SLC27A5,ZNF446 | c.*22-4419_*22-4364del (n.*22-4419_*22-4364del) c.803-1139_803-1084del (n.803-1139_803-1084del) c.1005-1139_1005-1084del (n.1005-1139_1005-1084del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488095_58488206del | CA634058721 | SLC27A5,ZNF446 | c.*22-4475_*22-4364del (n.*22-4475_*22-4364del) c.803-1195_803-1084del (n.803-1195_803-1084del) c.1005-1195_1005-1084del (n.1005-1195_1005-1084del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488013C= | CA2344950089 | SLC27A5,ZNF446 | c.*22-4367G= (n.*22-4367G=) c.803-1277C= (n.803-1277C=) c.1005-1277C= (n.1005-1277C=) | |
| 19 | g.58488013C>T | CA997546017 | SLC27A5,ZNF446 | c.*22-4367G>A (n.*22-4367G>A) c.803-1277C>T (n.803-1277C>T) c.1005-1277C>T (n.1005-1277C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488017C= | CA2344950090 | SLC27A5,ZNF446 | c.*22-4371G= (n.*22-4371G=) c.803-1273C= (n.803-1273C=) c.1005-1273C= (n.1005-1273C=) | |
| 19 | g.58488017C>T | CA2344950091 | SLC27A5,ZNF446 | c.*22-4371G>A (n.*22-4371G>A) c.803-1273C>T (n.803-1273C>T) c.1005-1273C>T (n.1005-1273C>T) | dbSNP |
| 19 | g.58488019del | CA2814983408 | SLC27A5,ZNF446 | c.*22-4371del (n.*22-4371del) c.803-1271del (n.803-1271del) c.1005-1271del (n.1005-1271del) | |
| 19 | g.58488019C= | CA2344950092 | SLC27A5,ZNF446 | c.*22-4373G= (n.*22-4373G=) c.803-1271C= (n.803-1271C=) c.1005-1271C= (n.1005-1271C=) | |
| 19 | g.58488019C>G | CA2344950093 | SLC27A5,ZNF446 | c.*22-4373G>C (n.*22-4373G>C) c.803-1271C>G (n.803-1271C>G) c.1005-1271C>G (n.1005-1271C>G) | dbSNP |
| 19 | g.58488019C>T | CA310592688 | SLC27A5,ZNF446 | c.*22-4373G>A (n.*22-4373G>A) c.803-1271C>T (n.803-1271C>T) c.1005-1271C>T (n.1005-1271C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488021G>A | CA310592690 | SLC27A5,ZNF446 | c.*22-4375C>T (n.*22-4375C>T) c.803-1269G>A (n.803-1269G>A) c.1005-1269G>A (n.1005-1269G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488021G= | CA2344950094 | SLC27A5,ZNF446 | c.*22-4375C= (n.*22-4375C=) c.803-1269G= (n.803-1269G=) c.1005-1269G= (n.1005-1269G=) | |
| 19 | g.58488022T>C | CA310592702 | SLC27A5,ZNF446 | c.*22-4376A>G (n.*22-4376A>G) c.803-1268T>C (n.803-1268T>C) c.1005-1268T>C (n.1005-1268T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488022T= | CA2344950095 | SLC27A5,ZNF446 | c.*22-4376A= (n.*22-4376A=) c.803-1268T= (n.803-1268T=) c.1005-1268T= (n.1005-1268T=) | |
| 19 | g.58488024C>T | CA997546023 | SLC27A5,ZNF446 | c.*22-4378G>A (n.*22-4378G>A) c.803-1266C>T (n.803-1266C>T) c.1005-1266C>T (n.1005-1266C>T) | gnomAD v3 gnomAD v4 |
| 19 | g.58488025A= | CA2344950096 | SLC27A5,ZNF446 | c.*22-4379T= (n.*22-4379T=) c.803-1265A= (n.803-1265A=) c.1005-1265A= (n.1005-1265A=) | |
| 19 | g.58488025A>C | CA997546031 | SLC27A5,ZNF446 | c.*22-4379T>G (n.*22-4379T>G) c.803-1265A>C (n.803-1265A>C) c.1005-1265A>C (n.1005-1265A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488025A>G | CA997546028 | SLC27A5,ZNF446 | c.*22-4379T>C (n.*22-4379T>C) c.803-1265A>G (n.803-1265A>G) c.1005-1265A>G (n.1005-1265A>G) | gnomAD v3 gnomAD v4 |
| 19 | g.58488025A>T | CA997546025 | SLC27A5,ZNF446 | c.*22-4379T>A (n.*22-4379T>A) c.803-1265A>T (n.803-1265A>T) c.1005-1265A>T (n.1005-1265A>T) | gnomAD v3 gnomAD v4 |
| 19 | g.58488027G>A | CA310592706 | SLC27A5,ZNF446 | c.*22-4381C>T (n.*22-4381C>T) c.803-1263G>A (n.803-1263G>A) c.1005-1263G>A (n.1005-1263G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488027G>C | CA634058732 | SLC27A5,ZNF446 | c.*22-4381C>G (n.*22-4381C>G) c.803-1263G>C (n.803-1263G>C) c.1005-1263G>C (n.1005-1263G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488027G= | CA2344950097 | SLC27A5,ZNF446 | c.*22-4381C= (n.*22-4381C=) c.803-1263G= (n.803-1263G=) c.1005-1263G= (n.1005-1263G=) | |
| 19 | g.58488032T>C | CA634058734 | SLC27A5,ZNF446 | c.*22-4386A>G (n.*22-4386A>G) c.803-1258T>C (n.803-1258T>C) c.1005-1258T>C (n.1005-1258T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488032T= | CA2344950098 | SLC27A5,ZNF446 | c.*22-4386A= (n.*22-4386A=) c.803-1258T= (n.803-1258T=) c.1005-1258T= (n.1005-1258T=) | |
| 19 | g.58488036A= | CA2344950099 | SLC27A5,ZNF446 | c.*22-4390T= (n.*22-4390T=) c.803-1254A= (n.803-1254A=) c.1005-1254A= (n.1005-1254A=) | |
| 19 | g.58488039dup | CA2344950100 | SLC27A5,ZNF446 | c.*22-4391dup (n.*22-4391dup) c.803-1251dup (n.803-1251dup) c.1005-1251dup (n.1005-1251dup) | dbSNP |
| 19 | g.58488039G>A | CA310592710 | SLC27A5,ZNF446 | c.*22-4393C>T (n.*22-4393C>T) c.803-1251G>A (n.803-1251G>A) c.1005-1251G>A (n.1005-1251G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488039G= | CA2344950101 | SLC27A5,ZNF446 | c.*22-4393C= (n.*22-4393C=) c.803-1251G= (n.803-1251G=) c.1005-1251G= (n.1005-1251G=) | |
| 19 | g.58488041A>G | CA2566072864 | SLC27A5,ZNF446 | c.*22-4395T>C (n.*22-4395T>C) c.803-1249A>G (n.803-1249A>G) c.1005-1249A>G (n.1005-1249A>G) | |
| 19 | g.58488043dup | CA2814983411 | SLC27A5,ZNF446 | c.*22-4396dup (n.*22-4396dup) c.803-1247dup (n.803-1247dup) c.1005-1247dup (n.1005-1247dup) | |
| 19 | g.58488044A= | CA2344950102 | SLC27A5,ZNF446 | c.*22-4398T= (n.*22-4398T=) c.803-1246A= (n.803-1246A=) c.1005-1246A= (n.1005-1246A=) | |
| 19 | g.58488044A>G | CA310592712 | SLC27A5,ZNF446 | c.*22-4398T>C (n.*22-4398T>C) c.803-1246A>G (n.803-1246A>G) c.1005-1246A>G (n.1005-1246A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488044A>T | CA657406044 | SLC27A5,ZNF446 | c.*22-4398T>A (n.*22-4398T>A) c.803-1246A>T (n.803-1246A>T) c.1005-1246A>T (n.1005-1246A>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.58488048C= | CA2344950104 | SLC27A5,ZNF446 | c.*22-4402G= (n.*22-4402G=) c.803-1242C= (n.803-1242C=) c.1005-1242C= (n.1005-1242C=) | |
| 19 | g.58488048C>G | CA2344950103 | SLC27A5,ZNF446 | c.*22-4402G>C (n.*22-4402G>C) c.803-1242C>G (n.803-1242C>G) c.1005-1242C>G (n.1005-1242C>G) | dbSNP |
| 19 | g.58488049A= | CA2344950105 | SLC27A5,ZNF446 | c.*22-4403T= (n.*22-4403T=) c.803-1241A= (n.803-1241A=) c.1005-1241A= (n.1005-1241A=) | |
| 19 | g.58488049A>C | CA997546044 | SLC27A5,ZNF446 | c.*22-4403T>G (n.*22-4403T>G) c.803-1241A>C (n.803-1241A>C) c.1005-1241A>C (n.1005-1241A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488050C= | CA2344950106 | SLC27A5,ZNF446 | c.*22-4404G= (n.*22-4404G=) c.803-1240C= (n.803-1240C=) c.1005-1240C= (n.1005-1240C=) | |
| 19 | g.58488050C>T | CA997546046 | SLC27A5,ZNF446 | c.*22-4404G>A (n.*22-4404G>A) c.803-1240C>T (n.803-1240C>T) c.1005-1240C>T (n.1005-1240C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488051C= | CA2344950107 | SLC27A5,ZNF446 | c.*22-4405G= (n.*22-4405G=) c.803-1239C= (n.803-1239C=) c.1005-1239C= (n.1005-1239C=) | |
| 19 | g.58488051C>T | CA634058744 | SLC27A5,ZNF446 | c.*22-4405G>A (n.*22-4405G>A) c.803-1239C>T (n.803-1239C>T) c.1005-1239C>T (n.1005-1239C>T) | dbSNP gnomAD v2 |
| 19 | g.58488053G>A | CA997546048 | SLC27A5,ZNF446 | c.*22-4407C>T (n.*22-4407C>T) c.803-1237G>A (n.803-1237G>A) c.1005-1237G>A (n.1005-1237G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488053G= | CA2344950108 | SLC27A5,ZNF446 | c.*22-4407C= (n.*22-4407C=) c.803-1237G= (n.803-1237G=) c.1005-1237G= (n.1005-1237G=) | |
| 19 | g.58488055C>A | CA2814983415 | SLC27A5,ZNF446 | c.*22-4409G>T (n.*22-4409G>T) c.803-1235C>A (n.803-1235C>A) c.1005-1235C>A (n.1005-1235C>A) | |
| 19 | g.58488055C= | CA2344950109 | SLC27A5,ZNF446 | c.*22-4409G= (n.*22-4409G=) c.803-1235C= (n.803-1235C=) c.1005-1235C= (n.1005-1235C=) | |
| 19 | g.58488055C>G | CA884062243 | SLC27A5,ZNF446 | c.*22-4409G>C (n.*22-4409G>C) c.803-1235C>G (n.803-1235C>G) c.1005-1235C>G (n.1005-1235C>G) | dbSNP |
| 19 | g.58488056T>C | CA310592713 | SLC27A5,ZNF446 | c.*22-4410A>G (n.*22-4410A>G) c.803-1234T>C (n.803-1234T>C) c.1005-1234T>C (n.1005-1234T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488056T= | CA2344950110 | SLC27A5,ZNF446 | c.*22-4410A= (n.*22-4410A=) c.803-1234T= (n.803-1234T=) c.1005-1234T= (n.1005-1234T=) | |
| 19 | g.58488060C>A | CA2582300731 | SLC27A5,ZNF446 | c.*22-4414G>T (n.*22-4414G>T) c.803-1230C>A (n.803-1230C>A) c.1005-1230C>A (n.1005-1230C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488060C= | CA2344950111 | SLC27A5,ZNF446 | c.*22-4414G= (n.*22-4414G=) c.803-1230C= (n.803-1230C=) c.1005-1230C= (n.1005-1230C=) | |
| 19 | g.58488060C>G | CA884062244 | SLC27A5,ZNF446 | c.*22-4414G>C (n.*22-4414G>C) c.803-1230C>G (n.803-1230C>G) c.1005-1230C>G (n.1005-1230C>G) | dbSNP |
| 19 | g.58488060C>T | CA310592718 | SLC27A5,ZNF446 | c.*22-4414G>A (n.*22-4414G>A) c.803-1230C>T (n.803-1230C>T) c.1005-1230C>T (n.1005-1230C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488061C= | CA2344950112 | SLC27A5,ZNF446 | c.*22-4415G= (n.*22-4415G=) c.803-1229C= (n.803-1229C=) c.1005-1229C= (n.1005-1229C=) | |
| 19 | g.58488061C>G | CA310592723 | SLC27A5,ZNF446 | c.*22-4415G>C (n.*22-4415G>C) c.803-1229C>G (n.803-1229C>G) c.1005-1229C>G (n.1005-1229C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488061C>T | CA634058749 | SLC27A5,ZNF446 | c.*22-4415G>A (n.*22-4415G>A) c.803-1229C>T (n.803-1229C>T) c.1005-1229C>T (n.1005-1229C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488065_58488288del | CA2814983416 | SLC27A5,ZNF446 | c.*22-4638_*22-4415del (n.*22-4638_*22-4415del) c.803-1225_803-1002del (n.803-1225_803-1002del) c.1005-1225_1005-1002del (n.1005-1225_1005-1002del) | |
| 19 | g.58488062G>A | CA310592740 | SLC27A5,ZNF446 | c.*22-4416C>T (n.*22-4416C>T) c.803-1228G>A (n.803-1228G>A) c.1005-1228G>A (n.1005-1228G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488062G>C | CA2344950114 | SLC27A5,ZNF446 | c.*22-4416C>G (n.*22-4416C>G) c.803-1228G>C (n.803-1228G>C) c.1005-1228G>C (n.1005-1228G>C) | dbSNP |
| 19 | g.58488062G= | CA2344950113 | SLC27A5,ZNF446 | c.*22-4416C= (n.*22-4416C=) c.803-1228G= (n.803-1228G=) c.1005-1228G= (n.1005-1228G=) | |
| 19 | g.58488064dup | CA997546060 | SLC27A5,ZNF446 | c.*22-4418dup (n.*22-4418dup) c.803-1226dup (n.803-1226dup) c.1005-1226dup (n.1005-1226dup) | gnomAD v3 gnomAD v4 |
| 19 | g.58488064_58488076delinsGACCACACACCCT | CA2344950115 | SLC27A5,ZNF446 | c.*22-4430_*22-4418delinsAGGGTGTGTGGTC (n.*22-4430_*22-4418delinsAGGGTGTGTGGTC) c.803-1226_803-1214delinsGACCACACACCCT (n.803-1226_803-1214delinsGACCACACACCCT) c.1005-1226_1005-1214delinsGACCACACACCCT (n.1005-1226_1005-1214delinsGACCACACACCCT) | |
| 19 | g.58488065A= | CA2344950116 | SLC27A5,ZNF446 | c.*22-4419T= (n.*22-4419T=) c.803-1225A= (n.803-1225A=) c.1005-1225A= (n.1005-1225A=) | |
| 19 | g.58488065A>G | CA310592747 | SLC27A5,ZNF446 | c.*22-4419T>C (n.*22-4419T>C) c.803-1225A>G (n.803-1225A>G) c.1005-1225A>G (n.1005-1225A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488065A>T | CA2344950117 | SLC27A5,ZNF446 | c.*22-4419T>A (n.*22-4419T>A) c.803-1225A>T (n.803-1225A>T) c.1005-1225A>T (n.1005-1225A>T) | dbSNP |
| 19 | g.58488065_58488076del | CA634058753 | SLC27A5,ZNF446 | c.*22-4430_*22-4419del (n.*22-4430_*22-4419del) c.803-1225_803-1214del (n.803-1225_803-1214del) c.1005-1225_1005-1214del (n.1005-1225_1005-1214del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.58488066C= | CA2344950118 | SLC27A5,ZNF446 | c.*22-4420G= (n.*22-4420G=) c.803-1224C= (n.803-1224C=) c.1005-1224C= (n.1005-1224C=) | |
| 19 | g.58488066C>G | CA2344950119 | SLC27A5,ZNF446 | c.*22-4420G>C (n.*22-4420G>C) c.803-1224C>G (n.803-1224C>G) c.1005-1224C>G (n.1005-1224C>G) | dbSNP |
| 19 | g.58488068A= | CA2344950120 | SLC27A5,ZNF446 | c.*22-4422T= (n.*22-4422T=) c.803-1222A= (n.803-1222A=) c.1005-1222A= (n.1005-1222A=) | |
| 19 | g.58488068A>G | CA997546063 | SLC27A5,ZNF446 | c.*22-4422T>C (n.*22-4422T>C) c.803-1222A>G (n.803-1222A>G) c.1005-1222A>G (n.1005-1222A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.58488070A= | CA2344950121 | SLC27A5,ZNF446 | c.*22-4424T= (n.*22-4424T=) c.803-1220A= (n.803-1220A=) c.1005-1220A= (n.1005-1220A=) | |
| 19 | g.58488070A>G | CA2344950122 | SLC27A5,ZNF446 | c.*22-4424T>C (n.*22-4424T>C) c.803-1220A>G (n.803-1220A>G) c.1005-1220A>G (n.1005-1220A>G) | dbSNP |