Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.43172108_43172116del | CA2695230236 | CRYAA | c.350_358del (p.Arg117_Arg119del) c.239_247del (p.Arg80_Arg82del) c.290_298del (p.Arg97_Arg99del) n.451_459del n.431_439del | |
21 | g.43172107_43172109del | CA2695230237 | CRYAA | c.349_351del (p.Arg117del) c.238_240del (p.Arg80del) c.289_291del (p.Arg97del) n.450_452del n.430_432del | |
21 | g.43172105G>A | CA127002 | CRYAA | c.347G>A (p.Arg116His) c.236G>A (p.Arg79His) c.287G>A (p.Arg96His) n.448G>A n.428G>A | ClinVar dbSNP |
21 | g.43172105G>C | CA410605799 | CRYAA | c.347G>C (p.Arg116Pro) c.236G>C (p.Arg79Pro) c.287G>C (p.Arg96Pro) n.448G>C n.428G>C | |
21 | g.43172105G= | CA2391131613 | CRYAA | c.347G= (p.Arg116=) c.236G= (p.Arg79=) c.287G= (p.Arg96=) n.448G= n.428G= | |
21 | g.43172105G>T | CA410605798 | CRYAA | c.347G>T (p.Arg116Leu) c.236G>T (p.Arg79Leu) c.287G>T (p.Arg96Leu) n.448G>T n.428G>T | |
21 | g.43172107C>A | CA410605800 | CRYAA | c.349C>A (p.Arg117Ser) c.238C>A (p.Arg80Ser) c.289C>A (p.Arg97Ser) n.450C>A n.430C>A | |
21 | g.43172107C= | CA2391131614 | CRYAA | c.349C= (p.Arg117=) c.238C= (p.Arg80=) c.289C= (p.Arg97=) n.450C= n.430C= | |
21 | g.43172107C>G | CA410605801 | CRYAA | c.349C>G (p.Arg117Gly) c.238C>G (p.Arg80Gly) c.289C>G (p.Arg97Gly) n.450C>G n.430C>G | |
21 | g.43172107C>T | CA321171065 | CRYAA | c.349C>T (p.Arg117Cys) c.238C>T (p.Arg80Cys) c.289C>T (p.Arg97Cys) n.450C>T n.430C>T | ClinVar dbSNP |
21 | g.43172108G>A | CA321171069 | CRYAA | c.350G>A (p.Arg117His) c.239G>A (p.Arg80His) c.290G>A (p.Arg97His) n.451G>A n.431G>A | dbSNP |
21 | g.43172108G>C | CA410605802 | CRYAA | c.350G>C (p.Arg117Pro) c.239G>C (p.Arg80Pro) c.290G>C (p.Arg97Pro) n.451G>C n.431G>C | |
21 | g.43172108G= | CA2391131615 | CRYAA | c.350G= (p.Arg117=) c.239G= (p.Arg80=) c.290G= (p.Arg97=) n.451G= n.431G= | |
21 | g.43172108G>T | CA410605803 | CRYAA | c.350G>T (p.Arg117Leu) c.239G>T (p.Arg80Leu) c.290G>T (p.Arg97Leu) n.451G>T n.431G>T | |
21 | g.43172108_43172110del | CA2695230238 | CRYAA | c.350_352del (p.Arg117_Tyr118delinsHis) c.239_241del (p.Arg80_Tyr81delinsHis) c.290_292del (p.Arg97_Tyr98delinsHis) n.451_453del n.431_433del | |
21 | g.43172110T>A | CA410605804 | CRYAA | c.352T>A (p.Tyr118Asn) c.241T>A (p.Tyr81Asn) c.292T>A (p.Tyr98Asn) n.453T>A n.433T>A | |
21 | g.43172110T>C | CA410605806 | CRYAA | c.352T>C (p.Tyr118His) c.241T>C (p.Tyr81His) c.292T>C (p.Tyr98His) n.453T>C n.433T>C | |
21 | g.43172110T>G | CA410605805 | CRYAA | c.352T>G (p.Tyr118Asp) c.241T>G (p.Tyr81Asp) c.292T>G (p.Tyr98Asp) n.453T>G n.433T>G | |
21 | g.43172111A>C | CA410605807 | CRYAA | c.353A>C (p.Tyr118Ser) c.242A>C (p.Tyr81Ser) c.293A>C (p.Tyr98Ser) n.454A>C n.434A>C | |
21 | g.43172111A>G | CA410605808 | CRYAA | c.353A>G (p.Tyr118Cys) c.242A>G (p.Tyr81Cys) c.293A>G (p.Tyr98Cys) n.454A>G n.434A>G | |
21 | g.43172111A>T | CA410605809 | CRYAA | c.353A>T (p.Tyr118Phe) c.242A>T (p.Tyr81Phe) c.293A>T (p.Tyr98Phe) n.454A>T n.434A>T | |
21 | g.43172112C>A | CA410605810 | CRYAA | c.354C>A (p.Tyr118Ter) c.243C>A (p.Tyr81Ter) c.294C>A (p.Tyr98Ter) n.455C>A n.435C>A | dbSNP |
21 | g.43172112C= | CA2391131616 | CRYAA | c.354C= (p.Tyr118=) c.243C= (p.Tyr81=) c.294C= (p.Tyr98=) n.455C= n.435C= | |
21 | g.43172112C>G | CA410605811 | CRYAA | c.354C>G (p.Tyr118Ter) c.243C>G (p.Tyr81Ter) c.294C>G (p.Tyr98Ter) n.455C>G n.435C>G | |
21 | g.43172113C>A | CA410605812 | CRYAA | c.355C>A (p.Arg119Ser) c.244C>A (p.Arg82Ser) c.295C>A (p.Arg99Ser) n.456C>A n.436C>A | |
21 | g.43172113C= | CA2391131617 | CRYAA | c.355C= (p.Arg119=) c.244C= (p.Arg82=) c.295C= (p.Arg99=) n.456C= n.436C= | |
21 | g.43172113C>G | CA410605813 | CRYAA | c.355C>G (p.Arg119Gly) c.244C>G (p.Arg82Gly) c.295C>G (p.Arg99Gly) n.456C>G n.436C>G | |
21 | g.43172113C>T | CA321171079 | CRYAA | c.355C>T (p.Arg119Cys) c.244C>T (p.Arg82Cys) c.295C>T (p.Arg99Cys) n.456C>T n.436C>T | ClinVar dbSNP |
21 | g.43172114G>A | CA321171082 | CRYAA | c.356G>A (p.Arg119His) c.245G>A (p.Arg82His) c.296G>A (p.Arg99His) n.457G>A n.437G>A | dbSNP |
21 | g.43172114G>C | CA410605814 | CRYAA | c.356G>C (p.Arg119Pro) c.245G>C (p.Arg82Pro) c.296G>C (p.Arg99Pro) n.457G>C n.437G>C | |
21 | g.43172114G= | CA2391131618 | CRYAA | c.356G= (p.Arg119=) c.245G= (p.Arg82=) c.296G= (p.Arg99=) n.457G= n.437G= | |
21 | g.43172114G>T | CA410605815 | CRYAA | c.356G>T (p.Arg119Leu) c.245G>T (p.Arg82Leu) c.296G>T (p.Arg99Leu) n.457G>T n.437G>T | |
21 | g.43172115C= | CA2391131619 | CRYAA | c.357C= (p.Arg119=) c.246C= (p.Arg82=) c.297C= (p.Arg99=) n.458C= n.438C= | |
21 | g.43172115C>T | CA749588390 | CRYAA | c.357C>T (p.Arg119=) c.246C>T (p.Arg82=) c.297C>T (p.Arg99=) n.458C>T n.438C>T | dbSNP |
21 | g.43172116C>A | CA410605816 | CRYAA | c.358C>A (p.Leu120Met) c.247C>A (p.Leu83Met) c.298C>A (p.Leu100Met) n.459C>A n.439C>A | |
21 | g.43172116C>G | CA410605817 | CRYAA | c.358C>G (p.Leu120Val) c.247C>G (p.Leu83Val) c.298C>G (p.Leu100Val) n.459C>G n.439C>G | |
21 | g.43172117T>A | CA410605819 | CRYAA | c.359T>A (p.Leu120Gln) c.248T>A (p.Leu83Gln) c.299T>A (p.Leu100Gln) n.460T>A n.440T>A | |
21 | g.43172117T>C | CA410605820 | CRYAA | c.359T>C (p.Leu120Pro) c.248T>C (p.Leu83Pro) c.299T>C (p.Leu100Pro) n.460T>C n.440T>C | |
21 | g.43172117T>G | CA410605818 | CRYAA | c.359T>G (p.Leu120Arg) c.248T>G (p.Leu83Arg) c.299T>G (p.Leu100Arg) n.460T>G n.440T>G | |
21 | g.43172119C>A | CA410605822 | CRYAA | c.361C>A (p.Pro121Thr) c.250C>A (p.Pro84Thr) c.301C>A (p.Pro101Thr) n.462C>A n.442C>A | |
21 | g.43172119C>G | CA410605821 | CRYAA | c.361C>G (p.Pro121Ala) c.250C>G (p.Pro84Ala) c.301C>G (p.Pro101Ala) n.462C>G n.442C>G | |
21 | g.43172119C>T | CA410605823 | CRYAA | c.361C>T (p.Pro121Ser) c.250C>T (p.Pro84Ser) c.301C>T (p.Pro101Ser) n.462C>T n.442C>T | |
21 | g.43172120C>A | CA410605824 | CRYAA | c.362C>A (p.Pro121Gln) c.251C>A (p.Pro84Gln) c.302C>A (p.Pro101Gln) n.463C>A n.443C>A | |
21 | g.43172120C= | CA2391131620 | CRYAA | c.362C= (p.Pro121=) c.251C= (p.Pro84=) c.302C= (p.Pro101=) n.463C= n.443C= | |
21 | g.43172120C>G | CA410605825 | CRYAA | c.362C>G (p.Pro121Arg) c.251C>G (p.Pro84Arg) c.302C>G (p.Pro101Arg) n.463C>G n.443C>G | |
21 | g.43172120C>T | CA410605826 | CRYAA | c.362C>T (p.Pro121Leu) c.251C>T (p.Pro84Leu) c.302C>T (p.Pro101Leu) n.463C>T n.443C>T | dbSNP |
21 | g.43172121G>A | CA321171091 | CRYAA | c.363G>A (p.Pro121=) c.252G>A (p.Pro84=) c.303G>A (p.Pro101=) n.464G>A n.444G>A | dbSNP |
21 | g.43172121G= | CA2391131621 | CRYAA | c.363G= (p.Pro121=) c.252G= (p.Pro84=) c.303G= (p.Pro101=) n.464G= n.444G= | |
21 | g.43172122T>A | CA410605828 | CRYAA | c.364T>A (p.Ser122Thr) c.253T>A (p.Ser85Thr) c.304T>A (p.Ser102Thr) n.465T>A n.445T>A | |
21 | g.43172122T>C | CA410605829 | CRYAA | c.364T>C (p.Ser122Pro) c.253T>C (p.Ser85Pro) c.304T>C (p.Ser102Pro) n.465T>C n.445T>C |