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 |
|---|---|---|---|---|---|
| 22 | g.43946194A>C | CA411847513 | PNPLA3 | c.1258A>C (p.Thr420Pro) c.*849+1399A>C (n.*849+1399A>C) c.1246A>C (p.Thr416Pro) | gnomAD v4 |
| 22 | g.43946194A>G | CA411847515 | PNPLA3 | c.1258A>G (p.Thr420Ala) c.*849+1399A>G (n.*849+1399A>G) c.1246A>G (p.Thr416Ala) | |
| 22 | g.43946194A>T | CA411847516 | PNPLA3 | c.1258A>T (p.Thr420Ser) c.*849+1399A>T (n.*849+1399A>T) c.1246A>T (p.Thr416Ser) | |
| 22 | g.43946195C>A | CA411847521 | PNPLA3 | c.1259C>A (p.Thr420Lys) c.*849+1400C>A (n.*849+1400C>A) c.1247C>A (p.Thr416Lys) | |
| 22 | g.43946195C>G | CA411847519 | PNPLA3 | c.1259C>G (p.Thr420Arg) c.*849+1400C>G (n.*849+1400C>G) c.1247C>G (p.Thr416Arg) | |
| 22 | g.43946195C>T | CA411847518 | PNPLA3 | c.1259C>T (p.Thr420Ile) c.*849+1400C>T (n.*849+1400C>T) c.1247C>T (p.Thr416Ile) | gnomAD v4 |
| 22 | g.43946196A>C | CA515082893 | PNPLA3 | c.1260A>C (p.Thr420=) c.*849+1401A>C (n.*849+1401A>C) c.1248A>C (p.Thr416=) | |
| 22 | g.43946196A>G | CA515082892 | PNPLA3 | c.1260A>G (p.Thr420=) c.*849+1401A>G (n.*849+1401A>G) c.1248A>G (p.Thr416=) | gnomAD v4 |
| 22 | g.43946196A>T | CA515082891 | PNPLA3 | c.1260A>T (p.Thr420=) c.*849+1401A>T (n.*849+1401A>T) c.1248A>T (p.Thr416=) | |
| 22 | g.43946197C>A | CA411847523 | PNPLA3 | c.1261C>A (p.Pro421Thr) c.*849+1402C>A (n.*849+1402C>A) c.1249C>A (p.Pro417Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.43946197C= | CA2407489646 | PNPLA3 | c.1261C= (p.Pro421=) c.*849+1402C= (n.*849+1402C=) c.1249C= (p.Pro417=) | |
| 22 | g.43946197C>G | CA324869410 | PNPLA3 | c.1261C>G (p.Pro421Ala) c.*849+1402C>G (n.*849+1402C>G) c.1249C>G (p.Pro417Ala) | dbSNP gnomAD v4 |
| 22 | g.43946197C>T | CA10278239 | PNPLA3 | c.1261C>T (p.Pro421Ser) c.*849+1402C>T (n.*849+1402C>T) c.1249C>T (p.Pro417Ser) | dbSNP ExAC gnomAD v4 |
| 22 | g.43946198C>A | CA411847525 | PNPLA3 | c.1262C>A (p.Pro421His) c.*849+1403C>A (n.*849+1403C>A) c.1250C>A (p.Pro417His) | |
| 22 | g.43946198C= | CA2407489647 | PNPLA3 | c.1262C= (p.Pro421=) c.*849+1403C= (n.*849+1403C=) c.1250C= (p.Pro417=) | |
| 22 | g.43946198C>G | CA10278240 | PNPLA3 | c.1262C>G (p.Pro421Arg) c.*849+1403C>G (n.*849+1403C>G) c.1250C>G (p.Pro417Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.43946198C>T | CA411847528 | PNPLA3 | c.1262C>T (p.Pro421Leu) c.*849+1403C>T (n.*849+1403C>T) c.1250C>T (p.Pro417Leu) | ClinVar dbSNP |
| 22 | g.43946199T>A | CA515082902 | PNPLA3 | c.1263T>A (p.Pro421=) c.*849+1404T>A (n.*849+1404T>A) c.1251T>A (p.Pro417=) | |
| 22 | g.43946199T>C | CA515082904 | PNPLA3 | c.1263T>C (p.Pro421=) c.*849+1404T>C (n.*849+1404T>C) c.1251T>C (p.Pro417=) | |
| 22 | g.43946199T>G | CA515082906 | PNPLA3 | c.1263T>G (p.Pro421=) c.*849+1404T>G (n.*849+1404T>G) c.1251T>G (p.Pro417=) | |
| 22 | g.43946200G>A | CA411847529 | PNPLA3 | c.1264G>A (p.Glu422Lys) c.*849+1405G>A (n.*849+1405G>A) c.1252G>A (p.Glu418Lys) | |
| 22 | g.43946200G>C | CA10278241 | PNPLA3 | c.1264G>C (p.Glu422Gln) c.*849+1405G>C (n.*849+1405G>C) c.1252G>C (p.Glu418Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.43946200G= | CA2407489648 | PNPLA3 | c.1264G= (p.Glu422=) c.*849+1405G= (n.*849+1405G=) c.1252G= (p.Glu418=) | |
| 22 | g.43946200G>T | CA411847530 | PNPLA3 | c.1264G>T (p.Glu422Ter) c.*849+1405G>T (n.*849+1405G>T) c.1252G>T (p.Glu418Ter) | |
| 22 | g.43946201A>C | CA411847534 | PNPLA3 | c.1265A>C (p.Glu422Ala) c.*849+1406A>C (n.*849+1406A>C) c.1253A>C (p.Glu418Ala) | |
| 22 | g.43946201A>G | CA411847531 | PNPLA3 | c.1265A>G (p.Glu422Gly) c.*849+1406A>G (n.*849+1406A>G) c.1253A>G (p.Glu418Gly) | |
| 22 | g.43946201A>T | CA411847532 | PNPLA3 | c.1265A>T (p.Glu422Val) c.*849+1406A>T (n.*849+1406A>T) c.1253A>T (p.Glu418Val) | |
| 22 | g.43946202G>A | CA515082914 | PNPLA3 | c.1266G>A (p.Glu422=) c.*849+1407G>A (n.*849+1407G>A) c.1254G>A (p.Glu418=) | |
| 22 | g.43946202G>C | CA411847535 | PNPLA3 | c.1266G>C (p.Glu422Asp) c.*849+1407G>C (n.*849+1407G>C) c.1254G>C (p.Glu418Asp) | |
| 22 | g.43946202G= | CA2407489649 | PNPLA3 | c.1266G= (p.Glu422=) c.*849+1407G= (n.*849+1407G=) c.1254G= (p.Glu418=) | |
| 22 | g.43946202G>T | CA411847536 | PNPLA3 | c.1266G>T (p.Glu422Asp) c.*849+1407G>T (n.*849+1407G>T) c.1254G>T (p.Glu418Asp) | dbSNP |
| 22 | g.43946203C>A | CA411847538 | PNPLA3 | c.1267C>A (p.Gln423Lys) c.*849+1408C>A (n.*849+1408C>A) c.1255C>A (p.Gln419Lys) | |
| 22 | g.43946203C= | CA2407489650 | PNPLA3 | c.1267C= (p.Gln423=) c.*849+1408C= (n.*849+1408C=) c.1255C= (p.Gln419=) | |
| 22 | g.43946203C>G | CA411847539 | PNPLA3 | c.1267C>G (p.Gln423Glu) c.*849+1408C>G (n.*849+1408C>G) c.1255C>G (p.Gln419Glu) | |
| 22 | g.43946203C>T | CA10278242 | PNPLA3 | c.1267C>T (p.Gln423Ter) c.*849+1408C>T (n.*849+1408C>T) c.1255C>T (p.Gln419Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.43946204A>C | CA411847544 | PNPLA3 | c.1268A>C (p.Gln423Pro) c.*849+1409A>C (n.*849+1409A>C) c.1256A>C (p.Gln419Pro) | |
| 22 | g.43946204A>G | CA411847542 | PNPLA3 | c.1268A>G (p.Gln423Arg) c.*849+1409A>G (n.*849+1409A>G) c.1256A>G (p.Gln419Arg) | gnomAD v4 |
| 22 | g.43946204A>T | CA411847543 | PNPLA3 | c.1268A>T (p.Gln423Leu) c.*849+1409A>T (n.*849+1409A>T) c.1256A>T (p.Gln419Leu) | |
| 22 | g.43946205G>A | CA515082927 | PNPLA3 | c.1269G>A (p.Gln423=) c.*849+1410G>A (n.*849+1410G>A) c.1257G>A (p.Gln419=) | |
| 22 | g.43946205G>C | CA411847545 | PNPLA3 | c.1269G>C (p.Gln423His) c.*849+1410G>C (n.*849+1410G>C) c.1257G>C (p.Gln419His) | |
| 22 | g.43946205G>T | CA411847546 | PNPLA3 | c.1269G>T (p.Gln423His) c.*849+1410G>T (n.*849+1410G>T) c.1257G>T (p.Gln419His) | |
| 22 | g.43946206G>A | CA411847548 | PNPLA3 | c.1270G>A (p.Asp424Asn) c.*849+1411G>A (n.*849+1411G>A) c.1258G>A (p.Asp420Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.43946206G>C | CA411847550 | PNPLA3 | c.1270G>C (p.Asp424His) c.*849+1411G>C (n.*849+1411G>C) c.1258G>C (p.Asp420His) | |
| 22 | g.43946206G= | CA2407489651 | PNPLA3 | c.1270G= (p.Asp424=) c.*849+1411G= (n.*849+1411G=) c.1258G= (p.Asp420=) | |
| 22 | g.43946206G>T | CA411847552 | PNPLA3 | c.1270G>T (p.Asp424Tyr) c.*849+1411G>T (n.*849+1411G>T) c.1258G>T (p.Asp420Tyr) | |
| 22 | g.43946207A>C | CA411847553 | PNPLA3 | c.1271A>C (p.Asp424Ala) c.*849+1412A>C (n.*849+1412A>C) c.1259A>C (p.Asp420Ala) | |
| 22 | g.43946207A>G | CA411847554 | PNPLA3 | c.1271A>G (p.Asp424Gly) c.*849+1412A>G (n.*849+1412A>G) c.1259A>G (p.Asp420Gly) | |
| 22 | g.43946207A>T | CA411847555 | PNPLA3 | c.1271A>T (p.Asp424Val) c.*849+1412A>T (n.*849+1412A>T) c.1259A>T (p.Asp420Val) | gnomAD v4 |
| 22 | g.43946208C>A | CA411847557 | PNPLA3 | c.1272C>A (p.Asp424Glu) c.*849+1413C>A (n.*849+1413C>A) c.1260C>A (p.Asp420Glu) | |
| 22 | g.43946208C= | CA2407489652 | PNPLA3 | c.1272C= (p.Asp424=) c.*849+1413C= (n.*849+1413C=) c.1260C= (p.Asp420=) |