| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88719665G>A | CA211290 | PIEZO1 | c.6380C>T (p.Thr2127Met) c.406C>T c.146C>T (p.Thr49Met) n.621C>T n.535C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719665G>C | CA397083250 | PIEZO1 | c.6380C>G (p.Thr2127Arg) c.406C>G c.146C>G (p.Thr49Arg) n.621C>G n.535C>G | gnomAD v4 |
| 16 | g.88719665G= | CA2241244280 | PIEZO1 | c.6380C= (p.Thr2127=) c.406C= c.146C= (p.Thr49=) n.621C= n.535C= | |
| 16 | g.88719665G>T | CA397083251 | PIEZO1 | c.6380C>A (p.Thr2127Lys) c.406C>A c.146C>A (p.Thr49Lys) n.621C>A n.535C>A | gnomAD v4 |
| 16 | g.88719666T>A | CA397083252 | PIEZO1 | c.6379A>T (p.Thr2127Ser) c.405A>T c.145A>T (p.Thr49Ser) n.620A>T n.534A>T | |
| 16 | g.88719666T>C | CA397083253 | PIEZO1 | c.6379A>G (p.Thr2127Ala) c.405A>G c.145A>G (p.Thr49Ala) n.620A>G n.534A>G | gnomAD v4 |
| 16 | g.88719666T>G | CA397083255 | PIEZO1 | c.6379A>C (p.Thr2127Pro) c.405A>C c.145A>C (p.Thr49Pro) n.620A>C n.534A>C | |
| 16 | g.88719667C>A | CA397083259 | PIEZO1 | c.6378G>T (p.Trp2126Cys) c.404G>T c.144G>T (p.Trp48Cys) n.619G>T n.533G>T | gnomAD v4 |
| 16 | g.88719667C>G | CA397083260 | PIEZO1 | c.6378G>C (p.Trp2126Cys) c.404G>C c.144G>C (p.Trp48Cys) n.619G>C n.533G>C | |
| 16 | g.88719667C>T | CA397083263 | PIEZO1 | c.6378G>A (p.Trp2126Ter) c.404G>A c.144G>A (p.Trp48Ter) n.619G>A n.533G>A | gnomAD v4 |
| 16 | g.88719668C>A | CA397083269 | PIEZO1 | c.6377G>T (p.Trp2126Leu) c.403G>T c.143G>T (p.Trp48Leu) n.618G>T n.532G>T | gnomAD v4 |
| 16 | g.88719668C>G | CA397083264 | PIEZO1 | c.6377G>C (p.Trp2126Ser) c.403G>C c.143G>C (p.Trp48Ser) n.618G>C n.532G>C | |
| 16 | g.88719668C>T | CA397083266 | PIEZO1 | c.6377G>A (p.Trp2126Ter) c.403G>A c.143G>A (p.Trp48Ter) n.618G>A n.532G>A | gnomAD v4 |
| 16 | g.88719669A>C | CA397083271 | PIEZO1 | c.6376T>G (p.Trp2126Gly) c.402T>G c.142T>G (p.Trp48Gly) n.617T>G n.531T>G | |
| 16 | g.88719669A>G | CA397083277 | PIEZO1 | c.6376T>C (p.Trp2126Arg) c.402T>C c.142T>C (p.Trp48Arg) n.617T>C n.531T>C | |
| 16 | g.88719669A>T | CA397083279 | PIEZO1 | c.6376T>A (p.Trp2126Arg) c.402T>A c.142T>A (p.Trp48Arg) n.617T>A n.531T>A | gnomAD v4 |
| 16 | g.88719670C>A | CA497364025 | PIEZO1 | c.6375G>T (p.Val2125=) c.401G>T c.141G>T (p.Val47=) n.616G>T n.530G>T | gnomAD v4 |
| 16 | g.88719670C= | CA2241244281 | PIEZO1 | c.6375G= (p.Val2125=) c.401G= c.141G= (p.Val47=) n.616G= n.530G= | |
| 16 | g.88719670C>G | CA497364026 | PIEZO1 | c.6375G>C (p.Val2125=) c.401G>C c.141G>C (p.Val47=) n.616G>C n.530G>C | |
| 16 | g.88719670C>T | CA286409281 | PIEZO1 | c.6375G>A (p.Val2125=) c.401G>A c.141G>A (p.Val47=) n.616G>A n.530G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719671A>C | CA397083282 | PIEZO1 | c.6374T>G (p.Val2125Gly) c.400T>G c.140T>G (p.Val47Gly) n.615T>G n.529T>G | |
| 16 | g.88719671A>G | CA397083285 | PIEZO1 | c.6374T>C (p.Val2125Ala) c.400T>C c.140T>C (p.Val47Ala) n.615T>C n.529T>C | gnomAD v4 |
| 16 | g.88719671A>T | CA397083289 | PIEZO1 | c.6374T>A (p.Val2125Glu) c.400T>A c.140T>A (p.Val47Glu) n.615T>A n.529T>A | |
| 16 | g.88719672C>A | CA397083291 | PIEZO1 | c.6373G>T (p.Val2125Leu) c.399G>T c.139G>T (p.Val47Leu) n.614G>T n.528G>T | dbSNP gnomAD v4 |
| 16 | g.88719672C= | CA2241244284 | PIEZO1 | c.6373G= (p.Val2125=) c.399G= c.139G= (p.Val47=) n.614G= n.528G= | |
| 16 | g.88719672C>G | CA397083295 | PIEZO1 | c.6373G>C (p.Val2125Leu) c.399G>C c.139G>C (p.Val47Leu) n.614G>C n.528G>C | |
| 16 | g.88719672C>T | CA397083299 | PIEZO1 | c.6373G>A (p.Val2125Met) c.399G>A c.139G>A (p.Val47Met) n.614G>A n.528G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719673_88719674del | CA2536444565 | PIEZO1 | c.6372_6373del (p.Trp2124CysfsTer?) c.398_399del c.138_139del (p.Trp46CysfsTer?) n.613_614del n.527_528del | |
| 16 | g.88719673C>A | CA397083300 | PIEZO1 | c.6372G>T (p.Trp2124Cys) c.398G>T c.138G>T (p.Trp46Cys) n.613G>T n.527G>T | gnomAD v4 |
| 16 | g.88719673C>G | CA397083304 | PIEZO1 | c.6372G>C (p.Trp2124Cys) c.398G>C c.138G>C (p.Trp46Cys) n.613G>C n.527G>C | gnomAD v4 |
| 16 | g.88719673C>T | CA397083307 | PIEZO1 | c.6372G>A (p.Trp2124Ter) c.398G>A c.138G>A (p.Trp46Ter) n.613G>A n.527G>A | gnomAD v4 |
| 16 | g.88719673_88719680dup | CA2241244287 | PIEZO1 | c.6365_6372dup (p.Val2125TrpfsTer?) c.391_398dup c.131_138dup (p.Val47TrpfsTer?) n.606_613dup n.520_527dup | dbSNP |
| 16 | g.88719674C>A | CA397083310 | PIEZO1 | c.6371G>T (p.Trp2124Leu) c.397G>T c.137G>T (p.Trp46Leu) n.612G>T n.526G>T | gnomAD v4 |
| 16 | g.88719674C= | CA2241244288 | PIEZO1 | c.6371G= (p.Trp2124=) c.397G= c.137G= (p.Trp46=) n.612G= n.526G= | |
| 16 | g.88719674C>G | CA397083320 | PIEZO1 | c.6371G>C (p.Trp2124Ser) c.397G>C c.137G>C (p.Trp46Ser) n.612G>C n.526G>C | |
| 16 | g.88719674C>T | CA397083318 | PIEZO1 | c.6371G>A (p.Trp2124Ter) c.397G>A c.137G>A (p.Trp46Ter) n.612G>A n.526G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719675A= | CA2241244289 | PIEZO1 | c.6370T= (p.Trp2124=) c.396T= c.136T= (p.Trp46=) n.611T= n.525T= | |
| 16 | g.88719675A>C | CA397083323 | PIEZO1 | c.6370T>G (p.Trp2124Gly) c.396T>G c.136T>G (p.Trp46Gly) n.611T>G n.525T>G | |
| 16 | g.88719675A>G | CA397083327 | PIEZO1 | c.6370T>C (p.Trp2124Arg) c.396T>C c.136T>C (p.Trp46Arg) n.611T>C n.525T>C | gnomAD v4 |
| 16 | g.88719675A>T | CA397083331 | PIEZO1 | c.6370T>A (p.Trp2124Arg) c.396T>A c.136T>A (p.Trp46Arg) n.611T>A n.525T>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719676G>A | CA497364028 | PIEZO1 | c.6369C>T (p.Asp2123=) c.395C>T c.135C>T (p.Asp45=) n.610C>T n.524C>T | gnomAD v4 |
| 16 | g.88719676G>C | CA397083334 | PIEZO1 | c.6369C>G (p.Asp2123Glu) c.395C>G c.135C>G (p.Asp45Glu) n.610C>G n.524C>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719676G= | CA2241244290 | PIEZO1 | c.6369C= (p.Asp2123=) c.395C= c.135C= (p.Asp45=) n.610C= n.524C= | |
| 16 | g.88719676G>T | CA397083337 | PIEZO1 | c.6369C>A (p.Asp2123Glu) c.395C>A c.135C>A (p.Asp45Glu) n.610C>A n.524C>A | gnomAD v4 |
| 16 | g.88719677T>A | CA397083339 | PIEZO1 | c.6368A>T (p.Asp2123Val) c.394A>T c.134A>T (p.Asp45Val) n.609A>T n.523A>T | gnomAD v4 |
| 16 | g.88719677T>C | CA397083341 | PIEZO1 | c.6368A>G (p.Asp2123Gly) c.394A>G c.134A>G (p.Asp45Gly) n.609A>G n.523A>G | gnomAD v4 |
| 16 | g.88719677T>G | CA397083345 | PIEZO1 | c.6368A>C (p.Asp2123Ala) c.394A>C c.134A>C (p.Asp45Ala) n.609A>C n.523A>C | |
| 16 | g.88719678C>A | CA397083350 | PIEZO1 | c.6367G>T (p.Asp2123Tyr) c.393G>T c.133G>T (p.Asp45Tyr) n.608G>T n.522G>T | gnomAD v4 |
| 16 | g.88719678C>G | CA397083353 | PIEZO1 | c.6367G>C (p.Asp2123His) c.393G>C c.133G>C (p.Asp45His) n.608G>C n.522G>C | gnomAD v4 |
| 16 | g.88719678C>T | CA397083354 | PIEZO1 | c.6367G>A (p.Asp2123Asn) c.393G>A c.133G>A (p.Asp45Asn) n.608G>A n.522G>A | gnomAD v4 |