Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.43065430_43065849dup | CA891843625 | CBS | c.452-153_624dup n.763-153_935dup c.503-153_675dup c.137-153_309dup n.823-153_995dup n.602-153_774dup | ClinVar dbSNP |
21 | g.43065618_43065697del | CA2695230231 | CBS | c.453_531+1del n.764_842+1del c.504_582+1del c.138_216+1del n.824_902+1del n.603_681+1del | |
21 | g.43065672_43065698del | CA2695230234 | CBS | c.452_478del n.763_789del c.503_529del c.137_163del n.823_849del n.602_628del | |
21 | g.43065670_43065691del | CA2573157484 | CBS | c.456_477del (p.Ile152MetfsTer2) n.767_788del c.507_528del (p.Ile169MetfsTer2) c.141_162del (p.Ile47MetfsTer2) n.827_848del n.606_627del | ClinVar dbSNP |
21 | g.43065679_43065680delinsAT | CA2579807877 | CBS | c.467_468delinsAT (p.Leu156His) n.778_779delinsAT c.518_519delinsAT (p.Leu173His) c.152_153delinsAT (p.Leu51His) n.838_839delinsAT n.617_618delinsAT | |
21 | g.43065679_43065680delinsCA | CA2391103884 | CBS | c.467_468delinsTG (p.Leu156=) n.778_779delinsTG c.518_519delinsTG (p.Leu173=) c.152_153delinsTG (p.Leu51=) n.838_839delinsTG n.617_618delinsTG | |
21 | g.43065679_43065680delinsTG | CA2579807873 | CBS | c.467_468delinsCA (p.Leu156Pro) n.778_779delinsCA c.518_519delinsCA (p.Leu173Pro) c.152_153delinsCA (p.Leu51Pro) n.838_839delinsCA n.617_618delinsCA | |
21 | g.43065679_43065681delinsAAA | CA2579807875 | CBS | c.466_468delinsTTT (p.Leu156Phe) n.777_779delinsTTT c.517_519delinsTTT (p.Leu173Phe) c.151_153delinsTTT (p.Leu51Phe) n.837_839delinsTTT n.616_618delinsTTT | |
21 | g.43065679_43065681delinsAAT | CA2579807876 | CBS | c.466_468delinsATT (p.Leu156Ile) n.777_779delinsATT c.517_519delinsATT (p.Leu173Ile) c.151_153delinsATT (p.Leu51Ile) n.837_839delinsATT n.616_618delinsATT | |
21 | g.43065679_43065681delinsACC | CA2579807878 | CBS | c.466_468delinsGGT (p.Leu156Gly) n.777_779delinsGGT c.517_519delinsGGT (p.Leu173Gly) c.151_153delinsGGT (p.Leu51Gly) n.837_839delinsGGT n.616_618delinsGGT | |
21 | g.43065679_43065681delinsACT | CA2579807872 | CBS | c.466_468delinsAGT (p.Leu156Ser) n.777_779delinsAGT c.517_519delinsAGT (p.Leu173Ser) c.151_153delinsAGT (p.Leu51Ser) n.837_839delinsAGT n.616_618delinsAGT | |
21 | g.43065679_43065681delinsAGA | CA2579807871 | CBS | c.466_468delinsTCT (p.Leu156Ser) n.777_779delinsTCT c.517_519delinsTCT (p.Leu173Ser) c.151_153delinsTCT (p.Leu51Ser) n.837_839delinsTCT n.616_618delinsTCT | |
21 | g.43065679_43065681delinsATA | CA2579807869 | CBS | c.466_468delinsTAT (p.Leu156Tyr) n.777_779delinsTAT c.517_519delinsTAT (p.Leu173Tyr) c.151_153delinsTAT (p.Leu51Tyr) n.837_839delinsTAT n.616_618delinsTAT | |
21 | g.43065679_43065681delinsTAA | CA2579807880 | CBS | c.466_468delinsTTA (p.Leu156=) n.777_779delinsTTA c.517_519delinsTTA (p.Leu173=) c.151_153delinsTTA (p.Leu51=) n.837_839delinsTTA n.616_618delinsTTA | |
21 | g.43065679_43065681delinsTAT | CA2579807874 | CBS | c.466_468delinsATA (p.Leu156Ile) n.777_779delinsATA c.517_519delinsATA (p.Leu173Ile) c.151_153delinsATA (p.Leu51Ile) n.837_839delinsATA n.616_618delinsATA | |
21 | g.43065680del | CA16042004 | CBS | c.467del (p.Leu156ArgfsTer5) n.778del c.518del (p.Leu173ArgfsTer5) c.152del (p.Leu51ArgfsTer5) n.838del n.617del | ClinVar dbSNP |
21 | g.43065680A= | CA2391103885 | CBS | c.467T= (p.Leu156=) n.778T= c.518T= (p.Leu173=) c.152T= (p.Leu51=) n.838T= n.617T= | |
21 | g.43065680A>C | CA410601493 | CBS | c.467T>G (p.Leu156Arg) n.778T>G c.518T>G (p.Leu173Arg) c.152T>G (p.Leu51Arg) n.838T>G n.617T>G | |
21 | g.43065680A>G | CA321096729 | CBS | c.467T>C (p.Leu156Pro) n.778T>C c.518T>C (p.Leu173Pro) c.152T>C (p.Leu51Pro) n.838T>C n.617T>C | dbSNP |
21 | g.43065680A>T | CA410601491 | CBS | c.467T>A (p.Leu156Gln) n.778T>A c.518T>A (p.Leu173Gln) c.152T>A (p.Leu51Gln) n.838T>A n.617T>A | |
21 | g.43065680_43065681delinsCA | CA2579813616 | CBS | c.466_467delinsTG (p.Leu156Trp) n.777_778delinsTG c.517_518delinsTG (p.Leu173Trp) c.151_152delinsTG (p.Leu51Trp) n.837_838delinsTG n.616_617delinsTG | |
21 | g.43065680_43065681delinsTA | CA2579807870 | CBS | c.466_467delinsTA (p.Leu156Ter) n.777_778delinsTA c.517_518delinsTA (p.Leu173Ter) c.151_152delinsTA (p.Leu51Ter) n.837_838delinsTA n.616_617delinsTA | |
21 | g.43065681G>C | CA410601495 | CBS | c.466C>G (p.Leu156Val) n.777C>G c.517C>G (p.Leu173Val) c.151C>G (p.Leu51Val) n.837C>G n.616C>G | |
21 | g.43065681G>T | CA410601496 | CBS | c.466C>A (p.Leu156Met) n.777C>A c.517C>A (p.Leu173Met) c.151C>A (p.Leu51Met) n.837C>A n.616C>A | |
21 | g.43065682G>A | CA2573157485 | CBS | c.465C>T (p.Ala155=) n.776C>T c.516C>T (p.Ala172=) c.150C>T (p.Ala50=) n.836C>T n.615C>T | ClinVar dbSNP |
21 | g.43065682G= | CA2391103886 | CBS | c.465C= (p.Ala155=) n.776C= c.516C= (p.Ala172=) c.150C= (p.Ala50=) n.836C= n.615C= | |
21 | g.43065682G>T | CA321096740 | CBS | c.465C>A (p.Ala155=) n.776C>A c.516C>A (p.Ala172=) c.150C>A (p.Ala50=) n.836C>A n.615C>A | ClinVar dbSNP |
21 | g.43065682_43065683delinsAC | CA2579813207 | CBS | c.464_465delinsGT (p.Ala155Gly) n.775_776delinsGT c.515_516delinsGT (p.Ala172Gly) c.149_150delinsGT (p.Ala50Gly) n.835_836delinsGT n.614_615delinsGT | |
21 | g.43065682_43065683delinsAT | CA2579813213 | CBS | c.464_465delinsAT (p.Ala155Asp) n.775_776delinsAT c.515_516delinsAT (p.Ala172Asp) c.149_150delinsAT (p.Ala50Asp) n.835_836delinsAT n.614_615delinsAT | |
21 | g.43065682_43065683delinsCA | CA2579813195 | CBS | c.464_465delinsTG (p.Ala155Val) n.775_776delinsTG c.515_516delinsTG (p.Ala172Val) c.149_150delinsTG (p.Ala50Val) n.835_836delinsTG n.614_615delinsTG | |
21 | g.43065682_43065683delinsCC | CA2579813208 | CBS | c.464_465delinsGG (p.Ala155Gly) n.775_776delinsGG c.515_516delinsGG (p.Ala172Gly) c.149_150delinsGG (p.Ala50Gly) n.835_836delinsGG n.614_615delinsGG | |
21 | g.43065682_43065683delinsCT | CA2579813209 | CBS | c.464_465delinsAG (p.Ala155Glu) n.775_776delinsAG c.515_516delinsAG (p.Ala172Glu) c.149_150delinsAG (p.Ala50Glu) n.835_836delinsAG n.614_615delinsAG | |
21 | g.43065682_43065684delinsAAT | CA2579813205 | CBS | c.463_465delinsATT (p.Ala155Ile) n.774_776delinsATT c.514_516delinsATT (p.Ala172Ile) c.148_150delinsATT (p.Ala50Ile) n.834_836delinsATT n.613_615delinsATT | |
21 | g.43065682_43065684delinsACA | CA2579813210 | CBS | c.463_465delinsTGT (p.Ala155Cys) n.774_776delinsTGT c.514_516delinsTGT (p.Ala172Cys) c.148_150delinsTGT (p.Ala50Cys) n.834_836delinsTGT n.613_615delinsTGT | |
21 | g.43065682_43065684delinsACG | CA2579813214 | CBS | c.463_465delinsCGT (p.Ala155Arg) n.774_776delinsCGT c.514_516delinsCGT (p.Ala172Arg) c.148_150delinsCGT (p.Ala50Arg) n.834_836delinsCGT n.613_615delinsCGT | |
21 | g.43065682_43065684delinsACT | CA2579813199 | CBS | c.463_465delinsAGT (p.Ala155Ser) n.774_776delinsAGT c.514_516delinsAGT (p.Ala172Ser) c.148_150delinsAGT (p.Ala50Ser) n.834_836delinsAGT n.613_615delinsAGT | |
21 | g.43065682_43065684delinsAGA | CA2579813200 | CBS | c.463_465delinsTCT (p.Ala155Ser) n.774_776delinsTCT c.514_516delinsTCT (p.Ala172Ser) c.148_150delinsTCT (p.Ala50Ser) n.834_836delinsTCT n.613_615delinsTCT | |
21 | g.43065682_43065684delinsAGT | CA2579813197 | CBS | c.463_465delinsACT (p.Ala155Thr) n.774_776delinsACT c.514_516delinsACT (p.Ala172Thr) c.148_150delinsACT (p.Ala50Thr) n.834_836delinsACT n.613_615delinsACT | |
21 | g.43065682_43065684delinsATT | CA2579813211 | CBS | c.463_465delinsAAT (p.Ala155Asn) n.774_776delinsAAT c.514_516delinsAAT (p.Ala172Asn) c.148_150delinsAAT (p.Ala50Asn) n.834_836delinsAAT n.613_615delinsAAT | |
21 | g.43065682_43065684delinsCAA | CA2579813204 | CBS | c.463_465delinsTTG (p.Ala155Leu) n.774_776delinsTTG c.514_516delinsTTG (p.Ala172Leu) c.148_150delinsTTG (p.Ala50Leu) n.834_836delinsTTG n.613_615delinsTTG | |
21 | g.43065682_43065684delinsCAT | CA2579813202 | CBS | c.463_465delinsATG (p.Ala155Met) n.774_776delinsATG c.514_516delinsATG (p.Ala172Met) c.148_150delinsATG (p.Ala50Met) n.834_836delinsATG n.613_615delinsATG | |
21 | g.43065682_43065684delinsCCA | CA2579813194 | CBS | c.463_465delinsTGG (p.Ala155Trp) n.774_776delinsTGG c.514_516delinsTGG (p.Ala172Trp) c.148_150delinsTGG (p.Ala50Trp) n.834_836delinsTGG n.613_615delinsTGG | |
21 | g.43065682_43065684delinsCCG | CA2579813215 | CBS | c.463_465delinsCGG (p.Ala155Arg) n.774_776delinsCGG c.514_516delinsCGG (p.Ala172Arg) c.148_150delinsCGG (p.Ala50Arg) n.834_836delinsCGG n.613_615delinsCGG | |
21 | g.43065682_43065684delinsCCT | CA2579813212 | CBS | c.463_465delinsAGG (p.Ala155Arg) n.774_776delinsAGG c.514_516delinsAGG (p.Ala172Arg) c.148_150delinsAGG (p.Ala50Arg) n.834_836delinsAGG n.613_615delinsAGG | |
21 | g.43065682_43065684delinsCGG | CA2579813936 | CBS | c.463_465delinsCCG (p.Ala155Pro) n.774_776delinsCCG c.514_516delinsCCG (p.Ala172Pro) c.148_150delinsCCG (p.Ala50Pro) n.834_836delinsCCG n.613_615delinsCCG | |
21 | g.43065682_43065684delinsCGT | CA2579813196 | CBS | c.463_465delinsACG (p.Ala155Thr) n.774_776delinsACG c.514_516delinsACG (p.Ala172Thr) c.148_150delinsACG (p.Ala50Thr) n.834_836delinsACG n.613_615delinsACG | |
21 | g.43065682_43065684delinsCTT | CA2579813203 | CBS | c.463_465delinsAAG (p.Ala155Lys) n.774_776delinsAAG c.514_516delinsAAG (p.Ala172Lys) c.148_150delinsAAG (p.Ala50Lys) n.834_836delinsAAG n.613_615delinsAAG | |
21 | g.43065682_43065684delinsTTA | CA2579813935 | CBS | c.463_465delinsTAA (p.Ala155Ter) n.774_776delinsTAA c.514_516delinsTAA (p.Ala172Ter) c.148_150delinsTAA (p.Ala50Ter) n.834_836delinsTAA n.613_615delinsTAA | |
21 | g.43065683G>A | CA410601498 | CBS | c.464C>T (p.Ala155Val) n.775C>T c.515C>T (p.Ala172Val) c.149C>T (p.Ala50Val) n.835C>T n.614C>T | |
21 | g.43065683G>C | CA410601500 | CBS | c.464C>G (p.Ala155Gly) n.775C>G c.515C>G (p.Ala172Gly) c.149C>G (p.Ala50Gly) n.835C>G n.614C>G |