Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
8 | g.19951837C>G | CA459678487 | LPL | c.318C>G (p.Ser106=) c.90C>G (p.Ser30=) | |
8 | g.19951837C>T | CA459678488 | LPL | c.318C>T (p.Ser106=) c.90C>T (p.Ser30=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.19951838A>C | CA370467546 | LPL | c.319A>C (p.Asn107His) c.91A>C (p.Asn31His) | gnomAD v4 |
8 | g.19951838A>G | CA370467547 | LPL | c.319A>G (p.Asn107Asp) c.91A>G (p.Asn31Asp) | |
8 | g.19951838A>T | CA370467548 | LPL | c.319A>T (p.Asn107Tyr) c.91A>T (p.Asn31Tyr) | |
8 | g.19951839A= | CA1769097700 | LPL | c.320A= (p.Asn107=) c.92A= (p.Asn31=) | |
8 | g.19951839A>C | CA370467549 | LPL | c.320A>C (p.Asn107Thr) c.92A>C (p.Asn31Thr) | |
8 | g.19951839A>G | CA370467550 | LPL | c.320A>G (p.Asn107Ser) c.92A>G (p.Asn31Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.19951839A>T | CA370467551 | LPL | c.320A>T (p.Asn107Ile) c.92A>T (p.Asn31Ile) | |
8 | g.19951840T>A | CA370467552 | LPL | c.321T>A (p.Asn107Lys) c.93T>A (p.Asn31Lys) | |
8 | g.19951840T>C | CA459678489 | LPL | c.321T>C (p.Asn107=) c.93T>C (p.Asn31=) | ClinVar dbSNP gnomAD v4 |
8 | g.19951840T>G | CA370467553 | LPL | c.321T>G (p.Asn107Lys) c.93T>G (p.Asn31Lys) | |
8 | g.19951841G>A | CA370467554 | LPL | c.322G>A (p.Val108Ile) c.94G>A (p.Val32Ile) | dbSNP |
8 | g.19951841G>C | CA370467555 | LPL | c.322G>C (p.Val108Leu) c.94G>C (p.Val32Leu) | |
8 | g.19951841G= | CA1769097704 | LPL | c.322G= (p.Val108=) c.94G= (p.Val32=) |