Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.19955834dup | CA2740094969 | LPL | c.776-7dup (n.776-7dup) | ClinVar |
8 | g.19955834del | CA4655533 | LPL | c.776-7del (n.776-7del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.19955832T>G | CA2686360618 | LPL | c.776-9T>G (n.776-9T>G) | gnomAD v4 |
8 | g.19955833T>C | CA2550226220 | LPL | c.776-8T>C (n.776-8T>C) | ClinVar |
8 | g.19955833T>G | CA2686360619 | LPL | c.776-8T>G (n.776-8T>G) | gnomAD v4 |
8 | g.19955834T>C | CA2499219206 | LPL | c.776-7T>C (n.776-7T>C) | ClinVar dbSNP gnomAD v4 |
8 | g.19955834T>G | CA2686360620 | LPL | c.776-7T>G (n.776-7T>G) | gnomAD v4 |
8 | g.19955835A>T | CA2686360621 | LPL | c.776-6A>T (n.776-6A>T) | gnomAD v4 |
8 | g.19955836C= | CA1769104458 | LPL | c.776-5C= (n.776-5C=) | |
8 | g.19955836C>T | CA580502363 | LPL | c.776-5C>T (n.776-5C>T) | dbSNP gnomAD v2 |
8 | g.19955837C>A | CA2716411593 | LPL | c.776-4C>A (n.776-4C>A) | dbSNP |
8 | g.19955837C= | CA1769104461 | LPL | c.776-4C= (n.776-4C=) | |
8 | g.19955837C>T | CA580502364 | LPL | c.776-4C>T (n.776-4C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.19955839A>C | CA370468919 | LPL | c.776-2A>C (n.776-2A>C) | |
8 | g.19955839A>G | CA370468920 | LPL | c.776-2A>G (n.776-2A>G) | COSMIC |
8 | g.19955839A>T | CA370468921 | LPL | c.776-2A>T (n.776-2A>T) | |
8 | g.19955840G>A | CA370468922 | LPL | c.776-1G>A (n.776-1G>A) | |
8 | g.19955840G>C | CA370468924 | LPL | c.776-1G>C (n.776-1G>C) | |
8 | g.19955840G>T | CA370468923 | LPL | c.776-1G>T (n.776-1G>T) | |
8 | g.19955841A>C | CA370468925 | LPL | c.776A>C (p.Asp259Ala) | |
8 | g.19955841A>G | CA370468926 | LPL | c.776A>G (p.Asp259Gly) | |
8 | g.19955841A>T | CA370468927 | LPL | c.776A>T (p.Asp259Val) | |
8 | g.19955842T>A | CA370468928 | LPL | c.777T>A (p.Asp259Glu) | |
8 | g.19955842T>C | CA459879365 | LPL | c.777T>C (p.Asp259=) | ClinVar dbSNP |
8 | g.19955842T>G | CA370468929 | LPL | c.777T>G (p.Asp259Glu) | |
8 | g.19955843G>A | CA370468930 | LPL | c.778G>A (p.Val260Met) | gnomAD v4 |
8 | g.19955843G>C | CA370468931 | LPL | c.778G>C (p.Val260Leu) | |
8 | g.19955843G>T | CA370468932 | LPL | c.778G>T (p.Val260Leu) | |
8 | g.19955844T>A | CA370468933 | LPL | c.779T>A (p.Val260Glu) | |
8 | g.19955844T>C | CA370468934 | LPL | c.779T>C (p.Val260Ala) | |
8 | g.19955844T>G | CA370468935 | LPL | c.779T>G (p.Val260Gly) | |
8 | g.19955845G>A | CA459879370 | LPL | c.780G>A (p.Val260=) | dbSNP gnomAD v4 |
8 | g.19955845G>C | CA459879372 | LPL | c.780G>C (p.Val260=) | |
8 | g.19955845G= | CA1769104463 | LPL | c.780G= (p.Val260=) | |
8 | g.19955845G>T | CA459879371 | LPL | c.780G>T (p.Val260=) | |
8 | g.19955846G>A | CA370468938 | LPL | c.781G>A (p.Asp261Asn) | |
8 | g.19955846G>C | CA370468937 | LPL | c.781G>C (p.Asp261His) | |
8 | g.19955846G>T | CA370468936 | LPL | c.781G>T (p.Asp261Tyr) | gnomAD v4 |
8 | g.19955847A>C | CA370468941 | LPL | c.782A>C (p.Asp261Ala) | |
8 | g.19955847A>G | CA370468939 | LPL | c.782A>G (p.Asp261Gly) | |
8 | g.19955847A>T | CA370468940 | LPL | c.782A>T (p.Asp261Val) | |
8 | g.19955848C>A | CA370468942 | LPL | c.783C>A (p.Asp261Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.19955848C= | CA1769104466 | LPL | c.783C= (p.Asp261=) | |
8 | g.19955848C>G | CA370468943 | LPL | c.783C>G (p.Asp261Glu) | dbSNP gnomAD v4 |
8 | g.19955848C>T | CA4655534 | LPL | c.783C>T (p.Asp261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.19955849C>A | CA370468944 | LPL | c.784C>A (p.Gln262Lys) | |
8 | g.19955849C= | CA1769104473 | LPL | c.784C= (p.Gln262=) | |
8 | g.19955849C>G | CA370468945 | LPL | c.784C>G (p.Gln262Glu) | dbSNP |
8 | g.19955849C>T | CA370468946 | LPL | c.784C>T (p.Gln262Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.19955850A>C | CA370468947 | LPL | c.785A>C (p.Gln262Pro) |