Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.97864333T>A | CA209491 | ASNS | c.413A>T (p.Asp138Val) c.350A>T (p.Asp117Val) c.164A>T (p.Asp55Val) n.441A>T n.2042A>T | ClinVar dbSNP gnomAD v4 |
7 | g.97864333T>C | CA368271252 | ASNS | c.413A>G (p.Asp138Gly) c.350A>G (p.Asp117Gly) c.164A>G (p.Asp55Gly) n.441A>G n.2042A>G | |
7 | g.97864333T>G | CA368271254 | ASNS | c.413A>C (p.Asp138Ala) c.350A>C (p.Asp117Ala) c.164A>C (p.Asp55Ala) n.441A>C n.2042A>C | ClinVar dbSNP |
7 | g.97864333T= | CA1728339802 | ASNS | c.413A= (p.Asp138=) c.350A= (p.Asp117=) c.164A= (p.Asp55=) n.441A= n.2042A= | |
7 | g.97864334C>A | CA368271255 | ASNS | c.412G>T (p.Asp138Tyr) c.349G>T (p.Asp117Tyr) c.163G>T (p.Asp55Tyr) n.440G>T n.2041G>T | |
7 | g.97864334C= | CA1728339813 | ASNS | c.412G= (p.Asp138=) c.349G= (p.Asp117=) c.163G= (p.Asp55=) n.440G= n.2041G= | |
7 | g.97864334C>G | CA163034183 | ASNS | c.412G>C (p.Asp138His) c.349G>C (p.Asp117His) c.163G>C (p.Asp55His) n.440G>C n.2041G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.97864334C>T | CA368271258 | ASNS | c.412G>A (p.Asp138Asn) c.349G>A (p.Asp117Asn) c.163G>A (p.Asp55Asn) n.440G>A n.2041G>A | COSMIC COSMIC |
7 | g.97864335T>A | CA368271259 | ASNS | c.411A>T (p.Arg137Ser) c.348A>T (p.Arg116Ser) c.162A>T (p.Arg54Ser) n.439A>T n.2040A>T | |
7 | g.97864335T>C | CA456643997 | ASNS | c.411A>G (p.Arg137=) c.348A>G (p.Arg116=) c.162A>G (p.Arg54=) n.439A>G n.2040A>G | |
7 | g.97864335T>G | CA368271260 | ASNS | c.411A>C (p.Arg137Ser) c.348A>C (p.Arg116Ser) c.162A>C (p.Arg54Ser) n.439A>C n.2040A>C | |
7 | g.97864336C>A | CA368271267 | ASNS | c.410G>T (p.Arg137Ile) c.347G>T (p.Arg116Ile) c.161G>T (p.Arg54Ile) n.438G>T n.2039G>T | |
7 | g.97864336C>G | CA368271265 | ASNS | c.410G>C (p.Arg137Thr) c.347G>C (p.Arg116Thr) c.161G>C (p.Arg54Thr) n.438G>C n.2039G>C | |
7 | g.97864336C>T | CA368271263 | ASNS | c.410G>A (p.Arg137Lys) c.347G>A (p.Arg116Lys) c.161G>A (p.Arg54Lys) n.438G>A n.2039G>A | |
7 | g.97864337T>A | CA368271269 | ASNS | c.409A>T (p.Arg137Ter) c.346A>T (p.Arg116Ter) c.160A>T (p.Arg54Ter) n.437A>T n.2038A>T | |
7 | g.97864337T>C | CA4354781 | ASNS | c.409A>G (p.Arg137Gly) c.346A>G (p.Arg116Gly) c.160A>G (p.Arg54Gly) n.437A>G n.2038A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.97864337T>G | CA456643998 | ASNS | c.409A>C (p.Arg137=) c.346A>C (p.Arg116=) c.160A>C (p.Arg54=) n.437A>C n.2038A>C | gnomAD v4 |
7 | g.97864337T= | CA1728339821 | ASNS | c.409A= (p.Arg137=) c.346A= (p.Arg116=) c.160A= (p.Arg54=) n.437A= n.2038A= | |
7 | g.97864338A= | CA1728339823 | ASNS | c.408T= (p.Gly136=) c.345T= (p.Gly115=) c.159T= (p.Gly53=) n.436T= n.2037T= | |
7 | g.97864338A>C | CA456643999 | ASNS | c.408T>G (p.Gly136=) c.345T>G (p.Gly115=) c.159T>G (p.Gly53=) n.436T>G n.2037T>G | dbSNP |
7 | g.97864338A>G | CA456644000 | ASNS | c.408T>C (p.Gly136=) c.345T>C (p.Gly115=) c.159T>C (p.Gly53=) n.436T>C n.2037T>C | ClinVar |
7 | g.97864338A>T | CA456644001 | ASNS | c.408T>A (p.Gly136=) c.345T>A (p.Gly115=) c.159T>A (p.Gly53=) n.436T>A n.2037T>A | |
7 | g.97864339C>A | CA368271272 | ASNS | c.407G>T (p.Gly136Val) c.344G>T (p.Gly115Val) c.158G>T (p.Gly53Val) n.435G>T n.2036G>T | |
7 | g.97864339C= | CA1728339826 | ASNS | c.407G= (p.Gly136=) c.344G= (p.Gly115=) c.158G= (p.Gly53=) n.435G= n.2036G= | |
7 | g.97864339C>G | CA368271274 | ASNS | c.407G>C (p.Gly136Ala) c.344G>C (p.Gly115Ala) c.158G>C (p.Gly53Ala) n.435G>C n.2036G>C | |
7 | g.97864339C>T | CA4354782 | ASNS | c.407G>A (p.Gly136Asp) c.344G>A (p.Gly115Asp) c.158G>A (p.Gly53Asp) n.435G>A n.2036G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.97864340C>A | CA368271277 | ASNS | c.406G>T (p.Gly136Cys) c.343G>T (p.Gly115Cys) c.157G>T (p.Gly53Cys) n.434G>T n.2035G>T | |
7 | g.97864340C>G | CA368271278 | ASNS | c.406G>C (p.Gly136Arg) c.343G>C (p.Gly115Arg) c.157G>C (p.Gly53Arg) n.434G>C n.2035G>C | |
7 | g.97864340C>T | CA368271280 | ASNS | c.406G>A (p.Gly136Ser) c.343G>A (p.Gly115Ser) c.157G>A (p.Gly53Ser) n.434G>A n.2035G>A | |
7 | g.97864341C>A | CA456644005 | ASNS | c.405G>T (p.Leu135=) c.342G>T (p.Leu114=) c.156G>T (p.Leu52=) n.433G>T n.2034G>T | |
7 | g.97864341C>G | CA456644003 | ASNS | c.405G>C (p.Leu135=) c.342G>C (p.Leu114=) c.156G>C (p.Leu52=) n.433G>C n.2034G>C | |
7 | g.97864341C>T | CA456644004 | ASNS | c.405G>A (p.Leu135=) c.342G>A (p.Leu114=) c.156G>A (p.Leu52=) n.433G>A n.2034G>A | |
7 | g.97864342A>C | CA368271282 | ASNS | c.404T>G (p.Leu135Arg) c.341T>G (p.Leu114Arg) c.155T>G (p.Leu52Arg) n.432T>G n.2033T>G | |
7 | g.97864342A>G | CA368271283 | ASNS | c.404T>C (p.Leu135Pro) c.341T>C (p.Leu114Pro) c.155T>C (p.Leu52Pro) n.432T>C n.2033T>C | gnomAD v4 |
7 | g.97864342A>T | CA368271285 | ASNS | c.404T>A (p.Leu135Gln) c.341T>A (p.Leu114Gln) c.155T>A (p.Leu52Gln) n.432T>A n.2033T>A | |
7 | g.97864343G>A | CA456644006 | ASNS | c.403C>T (p.Leu135=) c.340C>T (p.Leu114=) c.154C>T (p.Leu52=) n.431C>T n.2032C>T | |
7 | g.97864343G>C | CA368271286 | ASNS | c.403C>G (p.Leu135Val) c.340C>G (p.Leu114Val) c.154C>G (p.Leu52Val) n.431C>G n.2032C>G | |
7 | g.97864343G>T | CA368271288 | ASNS | c.403C>A (p.Leu135Met) c.340C>A (p.Leu114Met) c.154C>A (p.Leu52Met) n.431C>A n.2032C>A | |
7 | g.97864344G>A | CA456644008 | ASNS | c.402C>T (p.Phe134=) c.339C>T (p.Phe113=) c.153C>T (p.Phe51=) n.430C>T n.2031C>T | ClinVar |
7 | g.97864344G>C | CA368271290 | ASNS | c.402C>G (p.Phe134Leu) c.339C>G (p.Phe113Leu) c.153C>G (p.Phe51Leu) n.430C>G n.2031C>G | |
7 | g.97864344G>T | CA368271292 | ASNS | c.402C>A (p.Phe134Leu) c.339C>A (p.Phe113Leu) c.153C>A (p.Phe51Leu) n.430C>A n.2031C>A | |
7 | g.97864345A>C | CA368271293 | ASNS | c.401T>G (p.Phe134Cys) c.338T>G (p.Phe113Cys) c.152T>G (p.Phe51Cys) n.429T>G n.2030T>G | |
7 | g.97864345A>G | CA368271295 | ASNS | c.401T>C (p.Phe134Ser) c.338T>C (p.Phe113Ser) c.152T>C (p.Phe51Ser) n.429T>C n.2030T>C | COSMIC |
7 | g.97864345A>T | CA368271297 | ASNS | c.401T>A (p.Phe134Tyr) c.338T>A (p.Phe113Tyr) c.152T>A (p.Phe51Tyr) n.429T>A n.2030T>A | |
7 | g.97864346A>C | CA368271299 | ASNS | c.400T>G (p.Phe134Val) c.337T>G (p.Phe113Val) c.151T>G (p.Phe51Val) n.428T>G n.2029T>G | |
7 | g.97864346A>G | CA368271301 | ASNS | c.400T>C (p.Phe134Leu) c.337T>C (p.Phe113Leu) c.151T>C (p.Phe51Leu) n.428T>C n.2029T>C | |
7 | g.97864346A>T | CA368271303 | ASNS | c.400T>A (p.Phe134Ile) c.337T>A (p.Phe113Ile) c.151T>A (p.Phe51Ile) n.428T>A n.2029T>A | |
7 | g.97864348_97864349del | CA2739278613 | ASNS | c.399_400del (p.Phe134ProfsTer3) c.336_337del (p.Phe113ProfsTer3) c.150_151del (p.Phe51ProfsTer3) n.427_428del n.2028_2029del | ClinVar |
7 | g.97864347C>A | CA456644011 | ASNS | c.399G>T (p.Val133=) c.336G>T (p.Val112=) c.150G>T (p.Val50=) n.427G>T n.2028G>T | |
7 | g.97864347C= | CA1728339831 | ASNS | c.399G= (p.Val133=) c.336G= (p.Val112=) c.150G= (p.Val50=) n.427G= n.2028G= |