Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.160135182A>C | CA343248526 | ATP1A2 | c.2002A>C (p.Lys668Gln) c.1134A>C n.2105A>C | |
1 | g.160135182A>G | CA343248525 | ATP1A2 | c.2002A>G (p.Lys668Glu) c.1134A>G n.2105A>G | |
1 | g.160135182A>T | CA343248524 | ATP1A2 | c.2002A>T (p.Lys668Ter) c.1134A>T n.2105A>T | |
1 | g.160135183A>C | CA343248527 | ATP1A2 | c.2003A>C (p.Lys668Thr) c.1135A>C n.2106A>C | |
1 | g.160135183A>G | CA343248528 | ATP1A2 | c.2003A>G (p.Lys668Arg) c.1135A>G n.2106A>G | |
1 | g.160135183A>T | CA343248529 | ATP1A2 | c.2003A>T (p.Lys668Met) c.1135A>T n.2106A>T | |
1 | g.160135184G>A | CA421600339 | ATP1A2 | c.2004G>A (p.Lys668=) c.1136G>A n.2107G>A | dbSNP gnomAD v2 |
1 | g.160135184G>C | CA343248530 | ATP1A2 | c.2004G>C (p.Lys668Asn) c.1136G>C n.2107G>C | |
1 | g.160135184G= | CA1202195039 | ATP1A2 | c.2004G= (p.Lys668=) c.1136G= n.2107G= | |
1 | g.160135184G>T | CA343248531 | ATP1A2 | c.2004G>T (p.Lys668Asn) c.1136G>T n.2107G>T | |
1 | g.160135185G>A | CA343248532 | ATP1A2 | c.2005G>A (p.Asp669Asn) c.1137G>A n.2108G>A | |
1 | g.160135185G>C | CA343248533 | ATP1A2 | c.2005G>C (p.Asp669His) c.1137G>C n.2108G>C | |
1 | g.160135185G>T | CA343248534 | ATP1A2 | c.2005G>T (p.Asp669Tyr) c.1137G>T n.2108G>T | |
1 | g.160135186A>C | CA343248535 | ATP1A2 | c.2006A>C (p.Asp669Ala) c.1138A>C n.2109A>C | |
1 | g.160135186A>G | CA343248536 | ATP1A2 | c.2006A>G (p.Asp669Gly) c.1138A>G n.2109A>G | |
1 | g.160135186A>T | CA343248537 | ATP1A2 | c.2006A>T (p.Asp669Val) c.1138A>T n.2109A>T | |
1 | g.160135187C>A | CA343248538 | ATP1A2 | c.2007C>A (p.Asp669Glu) c.1139C>A n.2110C>A | |
1 | g.160135187C= | CA1202195040 | ATP1A2 | c.2007C= (p.Asp669=) c.1139C= n.2110C= | |
1 | g.160135187C>G | CA343248539 | ATP1A2 | c.2007C>G (p.Asp669Glu) c.1139C>G n.2110C>G | |
1 | g.160135187C>T | CA31500951 | ATP1A2 | c.2007C>T (p.Asp669=) c.1139C>T n.2110C>T | dbSNP |
1 | g.160135188A= | CA1202195041 | ATP1A2 | c.2008A= (p.Met670=) c.1140A= n.2111A= | |
1 | g.160135188A>C | CA343248541 | ATP1A2 | c.2008A>C (p.Met670Leu) c.1140A>C n.2111A>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.160135188A>G | CA343248542 | ATP1A2 | c.2008A>G (p.Met670Val) c.1140A>G n.2111A>G | ClinVar dbSNP gnomAD v4 |
1 | g.160135188A>T | CA343248540 | ATP1A2 | c.2008A>T (p.Met670Leu) c.1140A>T n.2111A>T | |
1 | g.160135189T>A | CA343248543 | ATP1A2 | c.2009T>A (p.Met670Lys) c.1141T>A n.2112T>A | |
1 | g.160135189T>C | CA343248544 | ATP1A2 | c.2009T>C (p.Met670Thr) c.1141T>C n.2112T>C | gnomAD v4 |
1 | g.160135189T>G | CA343248545 | ATP1A2 | c.2009T>G (p.Met670Arg) c.1141T>G n.2112T>G | |
1 | g.160135190G>A | CA343248546 | ATP1A2 | c.2010G>A (p.Met670Ile) c.1142G>A n.2113G>A | |
1 | g.160135190G>C | CA343248547 | ATP1A2 | c.2010G>C (p.Met670Ile) c.1142G>C n.2113G>C | |
1 | g.160135190G>T | CA343248548 | ATP1A2 | c.2010G>T (p.Met670Ile) c.1142G>T n.2113G>T | |
1 | g.160135191A= | CA1141253787 | ATP1A2 | c.2011A= (p.Thr671=) c.1143A= n.2114A= | |
1 | g.160135191A>C | CA343248549 | ATP1A2 | c.2011A>C (p.Thr671Pro) c.1143A>C n.2114A>C | |
1 | g.160135191A>G | CA31500958 | ATP1A2 | c.2011A>G (p.Thr671Ala) c.1143A>G n.2114A>G | dbSNP |
1 | g.160135191A>T | CA343248550 | ATP1A2 | c.2011A>T (p.Thr671Ser) c.1143A>T n.2114A>T | |
1 | g.160135192C>A | CA343248551 | ATP1A2 | c.2012C>A (p.Thr671Lys) c.1144C>A n.2115C>A | |
1 | g.160135192C>G | CA343248552 | ATP1A2 | c.2012C>G (p.Thr671Arg) c.1144C>G n.2115C>G | |
1 | g.160135192C>T | CA343248553 | ATP1A2 | c.2012C>T (p.Thr671Ile) c.1144C>T n.2115C>T | gnomAD v4 |
1 | g.160135193A= | CA1202195042 | ATP1A2 | c.2013A= (p.Thr671=) c.1145A= n.2116A= | |
1 | g.160135193A>C | CA421600347 | ATP1A2 | c.2013A>C (p.Thr671=) c.1145A>C n.2116A>C | |
1 | g.160135193A>G | CA421600348 | ATP1A2 | c.2013A>G (p.Thr671=) c.1145A>G n.2116A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.160135193A>T | CA421600349 | ATP1A2 | c.2013A>T (p.Thr671=) c.1145A>T n.2116A>T | gnomAD v4 |
1 | g.160135194T>A | CA343248556 | ATP1A2 | c.2014T>A (p.Ser672Thr) c.1146T>A n.2117T>A | ClinVar dbSNP gnomAD v4 |
1 | g.160135194T>C | CA343248554 | ATP1A2 | c.2014T>C (p.Ser672Pro) c.1146T>C n.2117T>C | |
1 | g.160135194T>G | CA343248555 | ATP1A2 | c.2014T>G (p.Ser672Ala) c.1146T>G n.2117T>G | |
1 | g.160135194T= | CA1202195043 | ATP1A2 | c.2014T= (p.Ser672=) c.1146T= n.2117T= | |
1 | g.160135195C>A | CA343248557 | ATP1A2 | c.2015C>A (p.Ser672Ter) c.1147C>A n.2118C>A | dbSNP |
1 | g.160135195C= | CA1142070547 | ATP1A2 | c.2015C= (p.Ser672=) c.1147C= n.2118C= | |
1 | g.160135195C>G | CA343248558 | ATP1A2 | c.2015C>G (p.Ser672Trp) c.1147C>G n.2118C>G | |
1 | g.160135195C>T | CA1194645 | ATP1A2 | c.2015C>T (p.Ser672Leu) c.1147C>T n.2118C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.160135196G>A | CA1194646 | ATP1A2 | c.2016G>A (p.Ser672=) c.1148G>A n.2119G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |