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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88720170_88720182del | CA2634871216 | PIEZO1 | c.6052_6064del (p.Asp2018ThrfsTer?) c.78_90del n.293_305del n.207_219del | gnomAD v4 |
| 16 | g.88720173_88720175delinsGGC | CA2241244969 | PIEZO1 | c.6058_6060delinsGCC (p.Ala2020=) c.84_86delinsGCC n.299_301delinsGCC n.213_215delinsGCC | |
| 16 | g.88720177_88720178del | CA2241244971 | PIEZO1 | c.6058_6059del (p.Ala2020ProfsTer?) c.84_85del n.299_300del n.213_214del | |
| 16 | g.88720175C>A | CA397085904 | PIEZO1 | c.6058G>T (p.Ala2020Ser) c.84G>T n.299G>T n.213G>T | |
| 16 | g.88720175C= | CA2241244974 | PIEZO1 | c.6058G= (p.Ala2020=) c.84G= n.299G= n.213G= | |
| 16 | g.88720175C>G | CA397085905 | PIEZO1 | c.6058G>C (p.Ala2020Pro) c.84G>C n.299G>C n.213G>C | gnomAD v4 |
| 16 | g.88720175C>T | CA211288 | PIEZO1 | c.6058G>A (p.Ala2020Thr) c.84G>A n.299G>A n.213G>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.88720176G>A | CA8231718 | PIEZO1 | c.6057C>T (p.Arg2019=) c.83C>T n.298C>T n.212C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88720176G>C | CA497364637 | PIEZO1 | c.6057C>G (p.Arg2019=) c.83C>G n.298C>G n.212C>G | |
| 16 | g.88720176G= | CA2241244976 | PIEZO1 | c.6057C= (p.Arg2019=) c.83C= n.298C= n.212C= | |
| 16 | g.88720176G>T | CA497364639 | PIEZO1 | c.6057C>A (p.Arg2019=) c.83C>A n.298C>A n.212C>A | |
| 16 | g.88720177C>A | CA397085911 | PIEZO1 | c.6056G>T (p.Arg2019Leu) c.82G>T n.297G>T n.211G>T | gnomAD v4 |
| 16 | g.88720177C= | CA2241244979 | PIEZO1 | c.6056G= (p.Arg2019=) c.82G= n.297G= n.211G= | |
| 16 | g.88720177C>G | CA397085914 | PIEZO1 | c.6056G>C (p.Arg2019Pro) c.82G>C n.297G>C n.211G>C | |
| 16 | g.88720177C>T | CA286409352 | PIEZO1 | c.6056G>A (p.Arg2019His) c.82G>A n.297G>A n.211G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88720178G>A | CA397085915 | PIEZO1 | c.6055C>T (p.Arg2019Cys) c.81C>T n.296C>T n.210C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.88720178G>C | CA397085916 | PIEZO1 | c.6055C>G (p.Arg2019Gly) c.81C>G n.296C>G n.210C>G | gnomAD v4 |
| 16 | g.88720178G= | CA2241244981 | PIEZO1 | c.6055C= (p.Arg2019=) c.81C= n.296C= n.210C= | |
| 16 | g.88720178G>T | CA397085917 | PIEZO1 | c.6055C>A (p.Arg2019Ser) c.81C>A n.296C>A n.210C>A | gnomAD v4 |
| 16 | g.88720179G>A | CA497364645 | PIEZO1 | c.6054C>T (p.Asp2018=) c.80C>T n.295C>T n.209C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88720179G>C | CA397085918 | PIEZO1 | c.6054C>G (p.Asp2018Glu) c.80C>G n.295C>G n.209C>G | |
| 16 | g.88720179G= | CA2241244983 | PIEZO1 | c.6054C= (p.Asp2018=) c.80C= n.295C= n.209C= | |
| 16 | g.88720179G>T | CA397085920 | PIEZO1 | c.6054C>A (p.Asp2018Glu) c.80C>A n.295C>A n.209C>A | |
| 16 | g.88720180T>A | CA397085924 | PIEZO1 | c.6053A>T (p.Asp2018Val) c.79A>T n.294A>T n.208A>T | |
| 16 | g.88720180T>C | CA397085926 | PIEZO1 | c.6053A>G (p.Asp2018Gly) c.79A>G n.294A>G n.208A>G | |
| 16 | g.88720180T>G | CA397085928 | PIEZO1 | c.6053A>C (p.Asp2018Ala) c.79A>C n.294A>C n.208A>C | |
| 16 | g.88720181C>A | CA397085929 | PIEZO1 | c.6052G>T (p.Asp2018Tyr) c.78G>T n.293G>T n.207G>T | |
| 16 | g.88720181C>G | CA397085952 | PIEZO1 | c.6052G>C (p.Asp2018His) c.78G>C n.293G>C n.207G>C | |
| 16 | g.88720181C>T | CA397085933 | PIEZO1 | c.6052G>A (p.Asp2018Asn) c.78G>A n.293G>A n.207G>A | gnomAD v4 |
| 16 | g.88720182A= | CA2241244984 | PIEZO1 | c.6051T= (p.Val2017=) c.77T= n.292T= n.206T= | |
| 16 | g.88720182A>C | CA497364653 | PIEZO1 | c.6051T>G (p.Val2017=) c.77T>G n.292T>G n.206T>G | |
| 16 | g.88720182A>G | CA8231719 | PIEZO1 | c.6051T>C (p.Val2017=) c.77T>C n.292T>C n.206T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.88720182A>T | CA497364656 | PIEZO1 | c.6051T>A (p.Val2017=) c.77T>A n.292T>A n.206T>A | |
| 16 | g.88720183A= | CA2241244986 | PIEZO1 | c.6050T= (p.Val2017=) c.76T= n.291T= n.205T= | |
| 16 | g.88720183A>C | CA397085957 | PIEZO1 | c.6050T>G (p.Val2017Gly) c.76T>G n.291T>G n.205T>G | |
| 16 | g.88720183A>G | CA397085959 | PIEZO1 | c.6050T>C (p.Val2017Ala) c.76T>C n.291T>C n.205T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88720183A>T | CA397085961 | PIEZO1 | c.6050T>A (p.Val2017Asp) c.76T>A n.291T>A n.205T>A | gnomAD v4 |
| 16 | g.88720184C>A | CA397085962 | PIEZO1 | c.6049G>T (p.Val2017Phe) c.75G>T n.290G>T n.204G>T | |
| 16 | g.88720184C>G | CA397085963 | PIEZO1 | c.6049G>C (p.Val2017Leu) c.75G>C n.290G>C n.204G>C | |
| 16 | g.88720184C>T | CA397085964 | PIEZO1 | c.6049G>A (p.Val2017Ile) c.75G>A n.290G>A n.204G>A | |
| 16 | g.88720185C>A | CA497364664 | PIEZO1 | c.6048G>T (p.Val2016=) c.74G>T n.289G>T n.203G>T | |
| 16 | g.88720185C= | CA2241244988 | PIEZO1 | c.6048G= (p.Val2016=) c.74G= n.289G= n.203G= | |
| 16 | g.88720185C>G | CA497364665 | PIEZO1 | c.6048G>C (p.Val2016=) c.74G>C n.289G>C n.203G>C | |
| 16 | g.88720185C>T | CA497364666 | PIEZO1 | c.6048G>A (p.Val2016=) c.74G>A n.289G>A n.203G>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88720186A>C | CA397085966 | PIEZO1 | c.6047T>G (p.Val2016Gly) c.73T>G n.288T>G n.202T>G | |
| 16 | g.88720186A>G | CA397085967 | PIEZO1 | c.6047T>C (p.Val2016Ala) c.73T>C n.288T>C n.202T>C | |
| 16 | g.88720186A>T | CA397085968 | PIEZO1 | c.6047T>A (p.Val2016Glu) c.73T>A n.288T>A n.202T>A | |
| 16 | g.88720187C>A | CA397085971 | PIEZO1 | c.6046G>T (p.Val2016Leu) c.72G>T n.287G>T n.201G>T | |
| 16 | g.88720187C= | CA2241244990 | PIEZO1 | c.6046G= (p.Val2016=) c.72G= n.287G= n.201G= | |
| 16 | g.88720187C>G | CA397085972 | PIEZO1 | c.6046G>C (p.Val2016Leu) c.72G>C n.287G>C n.201G>C | gnomAD v4 |