| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89664888T>C | CA393786325 | PLIN1 | c.*695A>G (n.*695A>G) c.177A>G (p.Ile59Met) | gnomAD v4 |
| 15 | g.89664889A>C | CA393786326 | PLIN1 | c.*694T>G (n.*694T>G) c.176T>G (p.Ile59Arg) | |
| 15 | g.89664889A>G | CA393786327 | PLIN1 | c.*694T>C (n.*694T>C) c.176T>C (p.Ile59Thr) | |
| 15 | g.89664889A>T | CA393786329 | PLIN1 | c.*694T>A (n.*694T>A) c.176T>A (p.Ile59Lys) | |
| 15 | g.89664890T>A | CA393786333 | PLIN1 | c.*693A>T (n.*693A>T) c.175A>T (p.Ile59Leu) | |
| 15 | g.89664890T>C | CA393786335 | PLIN1 | c.*693A>G (n.*693A>G) c.175A>G (p.Ile59Val) | dbSNP gnomAD v4 |
| 15 | g.89664890T>G | CA393786339 | PLIN1 | c.*693A>C (n.*693A>C) c.175A>C (p.Ile59Leu) | |
| 15 | g.89664891G>C | CA393786346 | PLIN1 | c.*692C>G (n.*692C>G) c.174C>G (p.Cys58Trp) | |
| 15 | g.89664891G>T | CA393786343 | PLIN1 | c.*692C>A (n.*692C>A) c.174C>A (p.Cys58Ter) | |
| 15 | g.89664891_89664898delinsGCAGGTGA | CA2194719604 | PLIN1 | c.*685_*692delinsTCACCTGC (n.*685_*692delinsTCACCTGC) c.167_174delinsTCACCTGC (p.Phe56=) | |
| 15 | g.89664892C>A | CA393786350 | PLIN1 | c.*691G>T (n.*691G>T) c.173G>T (p.Cys58Phe) | |
| 15 | g.89664892C= | CA2194719606 | PLIN1 | c.*691G= (n.*691G=) c.173G= (p.Cys58=) | |
| 15 | g.89664892C>G | CA393786353 | PLIN1 | c.*691G>C (n.*691G>C) c.173G>C (p.Cys58Ser) | |
| 15 | g.89664892C>T | CA393786356 | PLIN1 | c.*691G>A (n.*691G>A) c.173G>A (p.Cys58Tyr) | dbSNP gnomAD v2 |
| 15 | g.89664892_89664898del | CA619527081 | PLIN1 | c.*685_*691del (n.*685_*691del) c.167_173del (p.Phe56SerfsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664893A>C | CA393786360 | PLIN1 | c.*690T>G (n.*690T>G) c.172T>G (p.Cys58Gly) | |
| 15 | g.89664893A>G | CA393786363 | PLIN1 | c.*690T>C (n.*690T>C) c.172T>C (p.Cys58Arg) | |
| 15 | g.89664893A>T | CA393786365 | PLIN1 | c.*690T>A (n.*690T>A) c.172T>A (p.Cys58Ser) | gnomAD v4 |
| 15 | g.89664894G>A | CA972622974 | PLIN1 | c.*689C>T (n.*689C>T) c.171C>T (p.Thr57=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89664894G>C | CA2630278634 | PLIN1 | c.*689C>G (n.*689C>G) c.171C>G (p.Thr57=) | gnomAD v4 |
| 15 | g.89664894G= | CA2194719609 | PLIN1 | c.*689C= (n.*689C=) c.171C= (p.Thr57=) | |
| 15 | g.89664895G>A | CA393786370 | PLIN1 | c.*688C>T (n.*688C>T) c.170C>T (p.Thr57Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664895G>C | CA393786378 | PLIN1 | c.*688C>G (n.*688C>G) c.170C>G (p.Thr57Ser) | |
| 15 | g.89664895G= | CA2194719612 | PLIN1 | c.*688C= (n.*688C=) c.170C= (p.Thr57=) | |
| 15 | g.89664895G>T | CA393786375 | PLIN1 | c.*688C>A (n.*688C>A) c.170C>A (p.Thr57Asn) | |
| 15 | g.89664896T>A | CA393786382 | PLIN1 | c.*687A>T (n.*687A>T) c.169A>T (p.Thr57Ser) | |
| 15 | g.89664896T>C | CA393786384 | PLIN1 | c.*687A>G (n.*687A>G) c.169A>G (p.Thr57Ala) | |
| 15 | g.89664896T>G | CA393786385 | PLIN1 | c.*687A>C (n.*687A>C) c.169A>C (p.Thr57Pro) | |
| 15 | g.89664897G>A | CA716950294 | PLIN1 | c.*686C>T (n.*686C>T) c.168C>T (p.Phe56=) | dbSNP gnomAD v4 |
| 15 | g.89664897G>C | CA393786386 | PLIN1 | c.*686C>G (n.*686C>G) c.168C>G (p.Phe56Leu) | |
| 15 | g.89664897G= | CA2194719616 | PLIN1 | c.*686C= (n.*686C=) c.168C= (p.Phe56=) | |
| 15 | g.89664897G>T | CA393786387 | PLIN1 | c.*686C>A (n.*686C>A) c.168C>A (p.Phe56Leu) | |
| 15 | g.89664898A>C | CA393786388 | PLIN1 | c.*685T>G (n.*685T>G) c.167T>G (p.Phe56Cys) | |
| 15 | g.89664898A>G | CA393786390 | PLIN1 | c.*685T>C (n.*685T>C) c.167T>C (p.Phe56Ser) | |
| 15 | g.89664898A>T | CA393786392 | PLIN1 | c.*685T>A (n.*685T>A) c.167T>A (p.Phe56Tyr) | |
| 15 | g.89664899A>C | CA393786394 | PLIN1 | c.*684T>G (n.*684T>G) c.166T>G (p.Phe56Val) | |
| 15 | g.89664899A>G | CA393786398 | PLIN1 | c.*684T>C (n.*684T>C) c.166T>C (p.Phe56Leu) | |
| 15 | g.89664899A>T | CA393786403 | PLIN1 | c.*684T>A (n.*684T>A) c.166T>A (p.Phe56Ile) | |
| 15 | g.89664900G>A | CA619527082 | PLIN1 | c.*683C>T (n.*683C>T) c.165C>T (p.Ala55=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89664900G= | CA2194719618 | PLIN1 | c.*683C= (n.*683C=) c.165C= (p.Ala55=) | |
| 15 | g.89664901G>A | CA393786417 | PLIN1 | c.*682C>T (n.*682C>T) c.164C>T (p.Ala55Val) | |
| 15 | g.89664901G>C | CA393786413 | PLIN1 | c.*682C>G (n.*682C>G) c.164C>G (p.Ala55Gly) | |
| 15 | g.89664901G>T | CA393786415 | PLIN1 | c.*682C>A (n.*682C>A) c.164C>A (p.Ala55Asp) | |
| 15 | g.89664902C>A | CA393786420 | PLIN1 | c.*681G>T (n.*681G>T) c.163G>T (p.Ala55Ser) | gnomAD v4 |
| 15 | g.89664902C>G | CA393786422 | PLIN1 | c.*681G>C (n.*681G>C) c.163G>C (p.Ala55Pro) | |
| 15 | g.89664902C>T | CA393786425 | PLIN1 | c.*681G>A (n.*681G>A) c.163G>A (p.Ala55Thr) | |
| 15 | g.89664904G>A | CA393786429 | PLIN1 | c.*679C>T (n.*679C>T) c.161C>T (p.Thr54Ile) | dbSNP |
| 15 | g.89664904G>C | CA393786431 | PLIN1 | c.*679C>G (n.*679C>G) c.161C>G (p.Thr54Ser) | gnomAD v4 |
| 15 | g.89664904G= | CA2194719621 | PLIN1 | c.*679C= (n.*679C=) c.161C= (p.Thr54=) | |
| 15 | g.89664904G>T | CA393786434 | PLIN1 | c.*679C>A (n.*679C>A) c.161C>A (p.Thr54Asn) |