Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.95308134T>A | CA368237925 | PON1 | c.575A>T (p.Gln192Leu) c.*300A>T (n.*300A>T) | dbSNP |
7 | g.95308134T>C | CA123411 | PON1 | c.575A>G (p.Gln192Arg) c.*300A>G (n.*300A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.95308134T>G | CA368237926 | PON1 | c.575A>C (p.Gln192Pro) c.*300A>C (n.*300A>C) | dbSNP |
7 | g.95308134T= | CA1727174862 | PON1 | c.575A= (p.Gln192=) c.*300A= (n.*300A=) | |
7 | g.95308135G>A | CA368237927 | PON1 | c.574C>T (p.Gln192Ter) c.*299C>T (n.*299C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.95308135G>C | CA4350250 | PON1 | c.574C>G (p.Gln192Glu) c.*299C>G (n.*299C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.95308135G= | CA1727174867 | PON1 | c.574C= (p.Gln192=) c.*299C= (n.*299C=) | |
7 | g.95308135G>T | CA162900180 | PON1 | c.574C>A (p.Gln192Lys) c.*299C>A (n.*299C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.95308136T>A | CA368237930 | PON1 | c.573A>T (p.Leu191Phe) c.*298A>T (n.*298A>T) | COSMIC |
7 | g.95308136T>C | CA456495345 | PON1 | c.573A>G (p.Leu191=) c.*298A>G (n.*298A>G) | |
7 | g.95308136T>G | CA368237933 | PON1 | c.573A>C (p.Leu191Phe) c.*298A>C (n.*298A>C) | |
7 | g.95308136dup | CA2683802482 | PON1 | c.573dup (p.Gln192ThrfsTer18) c.*298dup (n.*298dup) | gnomAD v4 |
7 | g.95308137A= | CA1727174871 | PON1 | c.572T= (p.Leu191=) c.*297T= (n.*297T=) | |
7 | g.95308137A>C | CA368237936 | PON1 | c.572T>G (p.Leu191Ter) c.*297T>G (n.*297T>G) | |
7 | g.95308137A>G | CA368237939 | PON1 | c.572T>C (p.Leu191Ser) c.*297T>C (n.*297T>C) | dbSNP gnomAD v4 |
7 | g.95308137A>T | CA368237941 | PON1 | c.572T>A (p.Leu191Ter) c.*297T>A (n.*297T>A) | |
7 | g.95308138A>C | CA368237947 | PON1 | c.571T>G (p.Leu191Val) c.*296T>G (n.*296T>G) | |
7 | g.95308138A>G | CA456495347 | PON1 | c.571T>C (p.Leu191=) c.*296T>C (n.*296T>C) | COSMIC |
7 | g.95308138A>T | CA368237948 | PON1 | c.571T>A (p.Leu191Ile) c.*296T>A (n.*296T>A) | |
7 | g.95308139G>A | CA456495348 | PON1 | c.570C>T (p.Tyr190=) c.*295C>T (n.*295C>T) | gnomAD v4 |
7 | g.95308139G>C | CA368237949 | PON1 | c.570C>G (p.Tyr190Ter) c.*295C>G (n.*295C>G) | |
7 | g.95308139G>T | CA368237950 | PON1 | c.570C>A (p.Tyr190Ter) c.*295C>A (n.*295C>A) | |
7 | g.95308140T>A | CA368237951 | PON1 | c.569A>T (p.Tyr190Phe) c.*294A>T (n.*294A>T) | |
7 | g.95308140T>C | CA368237952 | PON1 | c.569A>G (p.Tyr190Cys) c.*294A>G (n.*294A>G) | |
7 | g.95308140T>G | CA368237954 | PON1 | c.569A>C (p.Tyr190Ser) c.*294A>C (n.*294A>C) | dbSNP gnomAD v4 |
7 | g.95308141A>C | CA368237960 | PON1 | c.568T>G (p.Tyr190Asp) c.*293T>G (n.*293T>G) | |
7 | g.95308141A>G | CA368237958 | PON1 | c.568T>C (p.Tyr190His) c.*293T>C (n.*293T>C) | |
7 | g.95308141A>T | CA368237956 | PON1 | c.568T>A (p.Tyr190Asn) c.*293T>A (n.*293T>A) | |
7 | g.95308142G>A | CA456495351 | PON1 | c.567C>T (p.Pro189=) c.*292C>T (n.*292C>T) | |
7 | g.95308142G>C | CA456495352 | PON1 | c.567C>G (p.Pro189=) c.*292C>G (n.*292C>G) | |
7 | g.95308142G>T | CA456495354 | PON1 | c.567C>A (p.Pro189=) c.*292C>A (n.*292C>A) | |
7 | g.95308145dup | CA2683802483 | PON1 | c.567dup (p.Tyr190LeufsTer20) c.*292dup (n.*292dup) | gnomAD v4 |
7 | g.95308143G>A | CA4350252 | PON1 | c.566C>T (p.Pro189Leu) c.*291C>T (n.*291C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.95308143G>C | CA368237967 | PON1 | c.566C>G (p.Pro189Arg) c.*291C>G (n.*291C>G) | |
7 | g.95308143G= | CA1727174879 | PON1 | c.566C= (p.Pro189=) c.*291C= (n.*291C=) | |
7 | g.95308143G>T | CA4350251 | PON1 | c.566C>A (p.Pro189His) c.*291C>A (n.*291C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.95308144G>A | CA368237971 | PON1 | c.565C>T (p.Pro189Ser) c.*290C>T (n.*290C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.95308144G>C | CA368237973 | PON1 | c.565C>G (p.Pro189Ala) c.*290C>G (n.*290C>G) | |
7 | g.95308144G= | CA1727174881 | PON1 | c.565C= (p.Pro189=) c.*290C= (n.*290C=) | |
7 | g.95308144G>T | CA368237984 | PON1 | c.565C>A (p.Pro189Thr) c.*290C>A (n.*290C>A) | |
7 | g.95308145G>A | CA456495356 | PON1 | c.564C>T (p.Asp188=) c.*289C>T (n.*289C>T) | |
7 | g.95308145G>C | CA162900231 | PON1 | c.564C>G (p.Asp188Glu) c.*289C>G (n.*289C>G) | dbSNP |
7 | g.95308145G= | CA1727174885 | PON1 | c.564C= (p.Asp188=) c.*289C= (n.*289C=) | |
7 | g.95308145G>T | CA368237986 | PON1 | c.564C>A (p.Asp188Glu) c.*289C>A (n.*289C>A) | |
7 | g.95308146T>A | CA368237993 | PON1 | c.563A>T (p.Asp188Val) c.*288A>T (n.*288A>T) | |
7 | g.95308146T>C | CA368237989 | PON1 | c.563A>G (p.Asp188Gly) c.*288A>G (n.*288A>G) | |
7 | g.95308146T>G | CA162900236 | PON1 | c.563A>C (p.Asp188Ala) c.*288A>C (n.*288A>C) | dbSNP gnomAD v4 |
7 | g.95308146T= | CA1727174887 | PON1 | c.563A= (p.Asp188=) c.*288A= (n.*288A=) | |
7 | g.95308147C>A | CA368237996 | PON1 | c.562G>T (p.Asp188Tyr) c.*287G>T (n.*287G>T) | |
7 | g.95308147C= | CA1727174889 | PON1 | c.562G= (p.Asp188=) c.*287G= (n.*287G=) |