| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.19951825A= | CA1769097632 | LPL | c.306A= (p.Arg102=) c.78A= (p.Arg26=) n.563A= | |
| 8 | g.19951825A>C | CA251883 | LPL | c.306A>C (p.Arg102Ser) c.78A>C (p.Arg26Ser) n.563A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951825A>G | CA459678480 | LPL | c.306A>G (p.Arg102=) c.78A>G (p.Arg26=) n.563A>G | |
| 8 | g.19951825A>T | CA370467514 | LPL | c.306A>T (p.Arg102Ser) c.78A>T (p.Arg26Ser) n.563A>T | |
| 8 | g.19951826G>A | CA370467519 | LPL | c.307G>A (p.Glu103Lys) c.79G>A (p.Glu27Lys) n.564G>A | |
| 8 | g.19951826G>C | CA370467516 | LPL | c.307G>C (p.Glu103Gln) c.79G>C (p.Glu27Gln) n.564G>C | |
| 8 | g.19951826G>T | CA370467518 | LPL | c.307G>T (p.Glu103Ter) c.79G>T (p.Glu27Ter) n.564G>T | COSMIC |
| 8 | g.19951827A>C | CA370467520 | LPL | c.308A>C (p.Glu103Ala) c.80A>C (p.Glu27Ala) n.565A>C | |
| 8 | g.19951827A>G | CA370467522 | LPL | c.308A>G (p.Glu103Gly) c.80A>G (p.Glu27Gly) n.565A>G | |
| 8 | g.19951827A>T | CA370467524 | LPL | c.308A>T (p.Glu103Val) c.80A>T (p.Glu27Val) n.565A>T | |
| 8 | g.19951828A= | CA1769097647 | LPL | c.309A= (p.Glu103=) c.81A= (p.Glu27=) n.566A= | |
| 8 | g.19951828A>C | CA370467526 | LPL | c.309A>C (p.Glu103Asp) c.81A>C (p.Glu27Asp) n.566A>C | |
| 8 | g.19951828A>G | CA459678481 | LPL | c.309A>G (p.Glu103=) c.81A>G (p.Glu27=) n.566A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19951828A>T | CA370467527 | LPL | c.309A>T (p.Glu103Asp) c.81A>T (p.Glu27Asp) n.566A>T | |
| 8 | g.19951828_19951829insAAAT | CA580502395 | LPL | c.309_310insAAAT (p.Pro104LysfsTer?) c.81_82insAAAT (p.Pro28LysfsTer?) | gnomAD v2 |
| 8 | g.19951829C>A | CA370467528 | LPL | c.310C>A (p.Pro104Thr) c.82C>A (p.Pro28Thr) | |
| 8 | g.19951829C= | CA1769097654 | LPL | c.310C= (p.Pro104=) c.82C= (p.Pro28=) | |
| 8 | g.19951829C>G | CA370467530 | LPL | c.310C>G (p.Pro104Ala) c.82C>G (p.Pro28Ala) | |
| 8 | g.19951829C>T | CA370467529 | LPL | c.310C>T (p.Pro104Ser) c.82C>T (p.Pro28Ser) | |
| 8 | g.19951829_19951830insAAATAA | CA2554245665 | LPL | c.310_311insAAATAA (p.Pro104delinsGlnIleThr) c.82_83insAAATAA (p.Pro28delinsGlnIleThr) | |
| 8 | g.19951829_19951830insAAATAACAGAA | CA580502396 | LPL | c.310_311insAAATAACAGAA (p.Pro104GlnfsTer?) c.82_83insAAATAACAGAA (p.Pro28GlnfsTer?) | dbSNP gnomAD v2 |
| 8 | g.19951830C>A | CA370467531 | LPL | c.311C>A (p.Pro104Gln) c.83C>A (p.Pro28Gln) | |
| 8 | g.19951830C= | CA1769097663 | LPL | c.311C= (p.Pro104=) c.83C= (p.Pro28=) | |
| 8 | g.19951830C>G | CA4655380 | LPL | c.311C>G (p.Pro104Arg) c.83C>G (p.Pro28Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19951830C>T | CA370467532 | LPL | c.311C>T (p.Pro104Leu) c.83C>T (p.Pro28Leu) | |
| 8 | g.19951831del | CA2695208919 | LPL | c.312del (p.Asp105ThrfsTer?) c.84del (p.Asp29ThrfsTer?) | |
| 8 | g.19951831A>C | CA459678482 | LPL | c.312A>C (p.Pro104=) c.84A>C (p.Pro28=) | |
| 8 | g.19951831A>G | CA459678483 | LPL | c.312A>G (p.Pro104=) c.84A>G (p.Pro28=) | gnomAD v4 |
| 8 | g.19951831A>T | CA459678484 | LPL | c.312A>T (p.Pro104=) c.84A>T (p.Pro28=) | |
| 8 | g.19951832G>A | CA370467533 | LPL | c.313G>A (p.Asp105Asn) c.85G>A (p.Asp29Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19951832G>C | CA370467534 | LPL | c.313G>C (p.Asp105His) c.85G>C (p.Asp29His) | COSMIC |
| 8 | g.19951832G= | CA1769097669 | LPL | c.313G= (p.Asp105=) c.85G= (p.Asp29=) | |
| 8 | g.19951832G>T | CA370467535 | LPL | c.313G>T (p.Asp105Tyr) c.85G>T (p.Asp29Tyr) | |
| 8 | g.19951833A= | CA1769097680 | LPL | c.314A= (p.Asp105=) c.86A= (p.Asp29=) | |
| 8 | g.19951833A>C | CA173376374 | LPL | c.314A>C (p.Asp105Ala) c.86A>C (p.Asp29Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951833A>G | CA370467536 | LPL | c.314A>G (p.Asp105Gly) c.86A>G (p.Asp29Gly) | |
| 8 | g.19951833A>T | CA370467537 | LPL | c.314A>T (p.Asp105Val) c.86A>T (p.Asp29Val) | |
| 8 | g.19951834C>A | CA370467538 | LPL | c.315C>A (p.Asp105Glu) c.87C>A (p.Asp29Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951834C= | CA1769097688 | LPL | c.315C= (p.Asp105=) c.87C= (p.Asp29=) | |
| 8 | g.19951834C>G | CA370467539 | LPL | c.315C>G (p.Asp105Glu) c.87C>G (p.Asp29Glu) | |
| 8 | g.19951834C>T | CA459678485 | LPL | c.315C>T (p.Asp105=) c.87C>T (p.Asp29=) | |
| 8 | g.19951835T>A | CA370467540 | LPL | c.316T>A (p.Ser106Thr) c.88T>A (p.Ser30Thr) c.316T>A | |
| 8 | g.19951835T>C | CA370467541 | LPL | c.316T>C (p.Ser106Pro) c.88T>C (p.Ser30Pro) c.316T>C | |
| 8 | g.19951835T>G | CA370467542 | LPL | c.316T>G (p.Ser106Ala) c.88T>G (p.Ser30Ala) c.316T>G | |
| 8 | g.19951835_19951836insTGATTGGAAA | CA2513007794 | LPL | c.316_317insTGATTGGAAA (p.Ser106LeufsTer?) c.88_89insTGATTGGAAA (p.Ser30LeufsTer?) c.316_317insTGATTGGAAA | |
| 8 | g.19951836C>A | CA370467543 | LPL | c.317C>A (p.Ser106Tyr) c.89C>A (p.Ser30Tyr) c.317C>A | |
| 8 | g.19951836C>G | CA370467545 | LPL | c.317C>G (p.Ser106Cys) c.89C>G (p.Ser30Cys) c.317C>G | |
| 8 | g.19951836C>T | CA370467544 | LPL | c.317C>T (p.Ser106Phe) c.89C>T (p.Ser30Phe) c.317C>T | gnomAD v4 |
| 8 | g.19951837C>A | CA459678486 | LPL | c.318C>A (p.Ser106=) c.90C>A (p.Ser30=) | |
| 8 | g.19951837C= | CA1769097692 | LPL | c.318C= (p.Ser106=) c.90C= (p.Ser30=) |