Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.19955886del | CA2686360622 | LPL | c.821del (p.Leu274ProfsTer7) | ClinVar gnomAD v4 |
8 | g.19955886T>A | CA370469023 | LPL | c.821T>A (p.Leu274His) | |
8 | g.19955886T>C | CA370469024 | LPL | c.821T>C (p.Leu274Pro) | |
8 | g.19955886T>G | CA370469025 | LPL | c.821T>G (p.Leu274Arg) | |
8 | g.19955887C>A | CA459879438 | LPL | c.822C>A (p.Leu274=) | |
8 | g.19955887C>G | CA459879440 | LPL | c.822C>G (p.Leu274=) | |
8 | g.19955887C>T | CA459879439 | LPL | c.822C>T (p.Leu274=) | |
8 | g.19955888T>A | CA370469026 | LPL | c.823T>A (p.Phe275Ile) | |
8 | g.19955888T>C | CA370469027 | LPL | c.823T>C (p.Phe275Leu) | |
8 | g.19955888T>G | CA370469028 | LPL | c.823T>G (p.Phe275Val) | |
8 | g.19955889T>A | CA370469031 | LPL | c.824T>A (p.Phe275Tyr) | |
8 | g.19955889T>C | CA370469029 | LPL | c.824T>C (p.Phe275Ser) | |
8 | g.19955889T>G | CA370469030 | LPL | c.824T>G (p.Phe275Cys) | |
8 | g.19955890C>A | CA370469032 | LPL | c.825C>A (p.Phe275Leu) | |
8 | g.19955890C>G | CA370469033 | LPL | c.825C>G (p.Phe275Leu) | |
8 | g.19955890C>T | CA459879443 | LPL | c.825C>T (p.Phe275=) | |
8 | g.19955891A>C | CA370469034 | LPL | c.826A>C (p.Ile276Leu) | |
8 | g.19955891A>G | CA370469035 | LPL | c.826A>G (p.Ile276Val) | gnomAD v4 |
8 | g.19955891A>T | CA370469036 | LPL | c.826A>T (p.Ile276Phe) | |
8 | g.19955892T>A | CA370469039 | LPL | c.827T>A (p.Ile276Asn) | |
8 | g.19955892T>C | CA370469037 | LPL | c.827T>C (p.Ile276Thr) | |
8 | g.19955892T>G | CA370469038 | LPL | c.827T>G (p.Ile276Ser) | |
8 | g.19955893C>A | CA4655543 | LPL | c.828C>A (p.Ile276=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.19955893C= | CA1769104555 | LPL | c.828C= (p.Ile276=) | |
8 | g.19955893C>G | CA370469040 | LPL | c.828C>G (p.Ile276Met) | |
8 | g.19955893C>T | CA4655544 | LPL | c.828C>T (p.Ile276=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.19955894G>A | CA251877 | LPL | c.829G>A (p.Asp277Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.19955894G>C | CA370469041 | LPL | c.829G>C (p.Asp277His) | |
8 | g.19955894G= | CA1769104562 | LPL | c.829G= (p.Asp277=) | |
8 | g.19955894G>T | CA370469042 | LPL | c.829G>T (p.Asp277Tyr) | gnomAD v4 |
8 | g.19955895A= | CA1769104566 | LPL | c.830A= (p.Asp277=) | |
8 | g.19955895A>C | CA370469043 | LPL | c.830A>C (p.Asp277Ala) | |
8 | g.19955895A>G | CA370469044 | LPL | c.830A>G (p.Asp277Gly) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.19955895A>T | CA370469045 | LPL | c.830A>T (p.Asp277Val) | |
8 | g.19955895_19955897delinsACT | CA1769104565 | LPL | c.830_832delinsACT (p.Asp277=) | |
8 | g.19955896C>A | CA370469046 | LPL | c.831C>A (p.Asp277Glu) | |
8 | g.19955896C>G | CA370469047 | LPL | c.831C>G (p.Asp277Glu) | |
8 | g.19955896C>T | CA459879444 | LPL | c.831C>T (p.Asp277=) | ClinVar dbSNP |
8 | g.19955900_19955901del | CA4655545 | LPL | c.835_836del (p.Leu279ValfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.19955897T>A | CA370469048 | LPL | c.832T>A (p.Ser278Thr) | |
8 | g.19955897T>C | CA370469050 | LPL | c.832T>C (p.Ser278Pro) | |
8 | g.19955897T>G | CA370469049 | LPL | c.832T>G (p.Ser278Ala) | |
8 | g.19955898C>A | CA370469051 | LPL | c.833C>A (p.Ser278Tyr) | |
8 | g.19955898C>G | CA370469052 | LPL | c.833C>G (p.Ser278Cys) | |
8 | g.19955898C>T | CA370469053 | LPL | c.833C>T (p.Ser278Phe) | |
8 | g.19955899T>A | CA459879448 | LPL | c.834T>A (p.Ser278=) | ClinVar |
8 | g.19955899T>C | CA459879449 | LPL | c.834T>C (p.Ser278=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.19955899T>G | CA459879450 | LPL | c.834T>G (p.Ser278=) | |
8 | g.19955899T= | CA1769104571 | LPL | c.834T= (p.Ser278=) | |
8 | g.19955900C>A | CA370469054 | LPL | c.835C>A (p.Leu279Met) |