UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88719576T>A | CA397082225 | PIEZO1 | c.6469A>T (p.Lys2157Ter) c.495A>T c.235A>T (p.Lys79Ter) n.710A>T n.624A>T | gnomAD v4 |
| 16 | g.88719576T>C | CA397082222 | PIEZO1 | c.6469A>G (p.Lys2157Glu) c.495A>G c.235A>G (p.Lys79Glu) n.710A>G n.624A>G | |
| 16 | g.88719576T>G | CA397082223 | PIEZO1 | c.6469A>C (p.Lys2157Gln) c.495A>C c.235A>C (p.Lys79Gln) n.710A>C n.624A>C | gnomAD v4 |
| 16 | g.88719579_88719580del | CA2695223865 | PIEZO1 | c.6468_6469del (p.Lys2157GlufsTer?) c.494_495del c.234_235del (p.Lys79GlyfsTer3) n.709_710del n.623_624del | |
| 16 | g.88719577C>A | CA397082226 | PIEZO1 | c.6468G>T (p.Glu2156Asp) c.494G>T c.234G>T (p.Glu78Asp) n.709G>T n.623G>T | |
| 16 | g.88719577C= | CA2241244158 | PIEZO1 | c.6468G= (p.Glu2156=) c.494G= c.234G= (p.Glu78=) n.709G= n.623G= | |
| 16 | g.88719577C>G | CA8231631 | PIEZO1 | c.6468G>C (p.Glu2156Asp) c.494G>C c.234G>C (p.Glu78Asp) n.709G>C n.623G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719577C>T | CA497075848 | PIEZO1 | c.6468G>A (p.Glu2156=) c.494G>A c.234G>A (p.Glu78=) n.709G>A n.623G>A | |
| 16 | g.88719578T>A | CA397082229 | PIEZO1 | c.6467A>T (p.Glu2156Val) c.493A>T c.233A>T (p.Glu78Val) n.708A>T n.622A>T | |
| 16 | g.88719578T>C | CA397082230 | PIEZO1 | c.6467A>G (p.Glu2156Gly) c.493A>G c.233A>G (p.Glu78Gly) n.708A>G n.622A>G | gnomAD v4 |
| 16 | g.88719578T>G | CA397082235 | PIEZO1 | c.6467A>C (p.Glu2156Ala) c.493A>C c.233A>C (p.Glu78Ala) n.708A>C n.622A>C | |
| 16 | g.88719579C>A | CA397082237 | PIEZO1 | c.6466G>T (p.Glu2156Ter) c.492G>T c.232G>T (p.Glu78Ter) n.707G>T n.621G>T | gnomAD v4 |
| 16 | g.88719579C>G | CA397082238 | PIEZO1 | c.6466G>C (p.Glu2156Gln) c.492G>C c.232G>C (p.Glu78Gln) n.707G>C n.621G>C | |
| 16 | g.88719579C>T | CA397082240 | PIEZO1 | c.6466G>A (p.Glu2156Lys) c.492G>A c.232G>A (p.Glu78Lys) n.707G>A n.621G>A | gnomAD v4 |
| 16 | g.88719580T>A | CA497075854 | PIEZO1 | c.6465A>T (p.Thr2155=) c.491A>T c.231A>T (p.Thr77=) n.706A>T n.620A>T | |
| 16 | g.88719580T>C | CA497075857 | PIEZO1 | c.6465A>G (p.Thr2155=) c.491A>G c.231A>G (p.Thr77=) n.706A>G n.620A>G | |
| 16 | g.88719580T>G | CA497075858 | PIEZO1 | c.6465A>C (p.Thr2155=) c.491A>C c.231A>C (p.Thr77=) n.706A>C n.620A>C | gnomAD v4 |
| 16 | g.88719581G>A | CA397082242 | PIEZO1 | c.6464C>T (p.Thr2155Ile) c.490C>T c.230C>T (p.Thr77Ile) n.705C>T n.619C>T | gnomAD v4 COSMIC |
| 16 | g.88719581G>C | CA397082245 | PIEZO1 | c.6464C>G (p.Thr2155Arg) c.490C>G c.230C>G (p.Thr77Arg) n.705C>G n.619C>G | dbSNP gnomAD v4 |
| 16 | g.88719581G= | CA2241244160 | PIEZO1 | c.6464C= (p.Thr2155=) c.490C= c.230C= (p.Thr77=) n.705C= n.619C= | |
| 16 | g.88719581G>T | CA397082248 | PIEZO1 | c.6464C>A (p.Thr2155Lys) c.490C>A c.230C>A (p.Thr77Lys) n.705C>A n.619C>A | gnomAD v4 |
| 16 | g.88719582T>A | CA397082257 | PIEZO1 | c.6463A>T (p.Thr2155Ser) c.489A>T c.229A>T (p.Thr77Ser) n.704A>T n.618A>T | |
| 16 | g.88719582T>C | CA397082254 | PIEZO1 | c.6463A>G (p.Thr2155Ala) c.489A>G c.229A>G (p.Thr77Ala) n.704A>G n.618A>G | |
| 16 | g.88719582T>G | CA397082251 | PIEZO1 | c.6463A>C (p.Thr2155Pro) c.489A>C c.229A>C (p.Thr77Pro) n.704A>C n.618A>C | |
| 16 | g.88719586_88719587del | CA2634869258 | PIEZO1 | c.6462_6463del (p.Glu2154AspfsTer?) c.488_489del c.228_229del (p.Glu76AspfsTer6) n.703_704del n.617_618del | gnomAD v4 |
| 16 | g.88719583C>A | CA397082260 | PIEZO1 | c.6462G>T (p.Glu2154Asp) c.488G>T c.228G>T (p.Glu76Asp) n.703G>T n.617G>T | gnomAD v4 |
| 16 | g.88719583C= | CA2241244162 | PIEZO1 | c.6462G= (p.Glu2154=) c.488G= c.228G= (p.Glu76=) n.703G= n.617G= | |
| 16 | g.88719583C>G | CA286408786 | PIEZO1 | c.6462G>C (p.Glu2154Asp) c.488G>C c.228G>C (p.Glu76Asp) n.703G>C n.617G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719583C>T | CA286408789 | PIEZO1 | c.6462G>A (p.Glu2154=) c.488G>A c.228G>A (p.Glu76=) n.703G>A n.617G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719584T>A | CA397082264 | PIEZO1 | c.6461A>T (p.Glu2154Val) c.487A>T c.227A>T (p.Glu76Val) n.702A>T n.616A>T | gnomAD v4 |
| 16 | g.88719584T>C | CA397082267 | PIEZO1 | c.6461A>G (p.Glu2154Gly) c.487A>G c.227A>G (p.Glu76Gly) n.702A>G n.616A>G | dbSNP gnomAD v4 |
| 16 | g.88719584T>G | CA397082270 | PIEZO1 | c.6461A>C (p.Glu2154Ala) c.487A>C c.227A>C (p.Glu76Ala) n.702A>C n.616A>C | |
| 16 | g.88719584T= | CA2241244164 | PIEZO1 | c.6461A= (p.Glu2154=) c.487A= c.227A= (p.Glu76=) n.702A= n.616A= | |
| 16 | g.88719585C>A | CA397082273 | PIEZO1 | c.6460G>T (p.Glu2154Ter) c.486G>T c.226G>T (p.Glu76Ter) n.701G>T n.615G>T | gnomAD v4 |
| 16 | g.88719585C= | CA2241244166 | PIEZO1 | c.6460G= (p.Glu2154=) c.486G= c.226G= (p.Glu76=) n.701G= n.615G= | |
| 16 | g.88719585C>G | CA397082274 | PIEZO1 | c.6460G>C (p.Glu2154Gln) c.486G>C c.226G>C (p.Glu76Gln) n.701G>C n.615G>C | gnomAD v4 |
| 16 | g.88719585C>T | CA286408791 | PIEZO1 | c.6460G>A (p.Glu2154Lys) c.486G>A c.226G>A (p.Glu76Lys) n.701G>A n.615G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719586T>A | CA497075865 | PIEZO1 | c.6459A>T (p.Arg2153=) c.485A>T c.225A>T (p.Arg75=) n.700A>T n.614A>T | |
| 16 | g.88719586T>C | CA497075868 | PIEZO1 | c.6459A>G (p.Arg2153=) c.485A>G c.225A>G (p.Arg75=) n.700A>G n.614A>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88719586T>G | CA497075867 | PIEZO1 | c.6459A>C (p.Arg2153=) c.485A>C c.225A>C (p.Arg75=) n.700A>C n.614A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719586T= | CA2241244168 | PIEZO1 | c.6459A= (p.Arg2153=) c.485A= c.225A= (p.Arg75=) n.700A= n.614A= | |
| 16 | g.88719587C>A | CA397082278 | PIEZO1 | c.6458G>T (p.Arg2153Leu) c.484G>T c.224G>T (p.Arg75Leu) n.699G>T n.613G>T | gnomAD v4 |
| 16 | g.88719587C= | CA2241244170 | PIEZO1 | c.6458G= (p.Arg2153=) c.484G= c.224G= (p.Arg75=) n.699G= n.613G= | |
| 16 | g.88719587C>G | CA397082281 | PIEZO1 | c.6458G>C (p.Arg2153Pro) c.484G>C c.224G>C (p.Arg75Pro) n.699G>C n.613G>C | gnomAD v4 |
| 16 | g.88719587C>T | CA8231632 | PIEZO1 | c.6458G>A (p.Arg2153Gln) c.484G>A c.224G>A (p.Arg75Gln) n.699G>A n.613G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719587_88719604del | CA2634869284 | PIEZO1 | c.6441_6458del (p.Phe2147_Arg2153delinsLeu) c.467_484del c.207_224del (p.Phe69_Arg75delinsLeu) n.682_699del n.596_613del | gnomAD v4 |
| 16 | g.88719588G>A | CA286408797 | PIEZO1 | c.6457C>T (p.Arg2153Ter) c.483C>T c.223C>T (p.Arg75Ter) n.698C>T n.612C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719588G>C | CA397082287 | PIEZO1 | c.6457C>G (p.Arg2153Gly) c.483C>G c.223C>G (p.Arg75Gly) n.698C>G n.612C>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88719588G= | CA2241244172 | PIEZO1 | c.6457C= (p.Arg2153=) c.483C= c.223C= (p.Arg75=) n.698C= n.612C= | |
| 16 | g.88719588G>T | CA497075870 | PIEZO1 | c.6457C>A (p.Arg2153=) c.483C>A c.223C>A (p.Arg75=) n.698C>A n.612C>A | gnomAD v4 |
| 16 | g.88719589G>A | CA497075872 | PIEZO1 | c.6456C>T (p.Ser2152=) c.482C>T c.222C>T (p.Ser74=) n.697C>T n.611C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719589G>C | CA397082288 | PIEZO1 | c.6456C>G (p.Ser2152Arg) c.482C>G c.222C>G (p.Ser74Arg) n.697C>G n.611C>G | |
| 16 | g.88719589G= | CA2241244174 | PIEZO1 | c.6456C= (p.Ser2152=) c.482C= c.222C= (p.Ser74=) n.697C= n.611C= | |
| 16 | g.88719589G>T | CA397082289 | PIEZO1 | c.6456C>A (p.Ser2152Arg) c.482C>A c.222C>A (p.Ser74Arg) n.697C>A n.611C>A | gnomAD v4 |
| 16 | g.88719590C>A | CA397082292 | PIEZO1 | c.6455G>T (p.Ser2152Ile) c.481G>T c.221G>T (p.Ser74Ile) n.696G>T n.610G>T | gnomAD v4 |
| 16 | g.88719590C= | CA2241244175 | PIEZO1 | c.6455G= (p.Ser2152=) c.481G= c.221G= (p.Ser74=) n.696G= n.610G= | |
| 16 | g.88719590C>G | CA286408800 | PIEZO1 | c.6455G>C (p.Ser2152Thr) c.481G>C c.221G>C (p.Ser74Thr) n.696G>C n.610G>C | dbSNP |
| 16 | g.88719590C>T | CA397082293 | PIEZO1 | c.6455G>A (p.Ser2152Asn) c.481G>A c.221G>A (p.Ser74Asn) n.696G>A n.610G>A | gnomAD v4 |
| 16 | g.88719591T>A | CA397082295 | PIEZO1 | c.6454A>T (p.Ser2152Cys) c.480A>T c.220A>T (p.Ser74Cys) n.695A>T n.609A>T | |
| 16 | g.88719591T>C | CA397082297 | PIEZO1 | c.6454A>G (p.Ser2152Gly) c.480A>G c.220A>G (p.Ser74Gly) n.695A>G n.609A>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88719591T>G | CA397082299 | PIEZO1 | c.6454A>C (p.Ser2152Arg) c.480A>C c.220A>C (p.Ser74Arg) n.695A>C n.609A>C | |
| 16 | g.88719591T= | CA2241244177 | PIEZO1 | c.6454A= (p.Ser2152=) c.480A= c.220A= (p.Ser74=) n.695A= n.609A= | |
| 16 | g.88719592G>A | CA497075880 | PIEZO1 | c.6453C>T (p.Cys2151=) c.479C>T c.219C>T (p.Cys73=) n.694C>T n.608C>T | gnomAD v4 |
| 16 | g.88719592G>C | CA397082302 | PIEZO1 | c.6453C>G (p.Cys2151Trp) c.479C>G c.219C>G (p.Cys73Trp) n.694C>G n.608C>G | |
| 16 | g.88719592G>T | CA397082304 | PIEZO1 | c.6453C>A (p.Cys2151Ter) c.479C>A c.219C>A (p.Cys73Ter) n.694C>A n.608C>A | gnomAD v4 |
| 16 | g.88719593C>A | CA397082305 | PIEZO1 | c.6452G>T (p.Cys2151Phe) c.478G>T c.218G>T (p.Cys73Phe) n.693G>T n.607G>T | |
| 16 | g.88719593C= | CA2241244179 | PIEZO1 | c.6452G= (p.Cys2151=) c.478G= c.218G= (p.Cys73=) n.693G= n.607G= | |
| 16 | g.88719593C>G | CA397082307 | PIEZO1 | c.6452G>C (p.Cys2151Ser) c.478G>C c.218G>C (p.Cys73Ser) n.693G>C n.607G>C | |
| 16 | g.88719593C>T | CA397082309 | PIEZO1 | c.6452G>A (p.Cys2151Tyr) c.478G>A c.218G>A (p.Cys73Tyr) n.693G>A n.607G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719594A>C | CA397082311 | PIEZO1 | c.6451T>G (p.Cys2151Gly) c.477T>G c.217T>G (p.Cys73Gly) n.692T>G n.606T>G | |
| 16 | g.88719594A>G | CA397082314 | PIEZO1 | c.6451T>C (p.Cys2151Arg) c.477T>C c.217T>C (p.Cys73Arg) n.692T>C n.606T>C | |
| 16 | g.88719594A>T | CA397082316 | PIEZO1 | c.6451T>A (p.Cys2151Ser) c.477T>A c.217T>A (p.Cys73Ser) n.692T>A n.606T>A | |
| 16 | g.88719595T>A | CA397082320 | PIEZO1 | c.6450A>T (p.Lys2150Asn) c.476A>T c.216A>T (p.Lys72Asn) n.691A>T n.605A>T | gnomAD v4 |
| 16 | g.88719595T>C | CA497075886 | PIEZO1 | c.6450A>G (p.Lys2150=) c.476A>G c.216A>G (p.Lys72=) n.691A>G n.605A>G | dbSNP |
| 16 | g.88719595T>G | CA397082319 | PIEZO1 | c.6450A>C (p.Lys2150Asn) c.476A>C c.216A>C (p.Lys72Asn) n.691A>C n.605A>C | |
| 16 | g.88719595T= | CA2241244181 | PIEZO1 | c.6450A= (p.Lys2150=) c.476A= c.216A= (p.Lys72=) n.691A= n.605A= | |
| 16 | g.88719596T>A | CA397082323 | PIEZO1 | c.6449A>T (p.Lys2150Ile) c.475A>T c.215A>T (p.Lys72Ile) n.690A>T n.604A>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719596T>C | CA397082326 | PIEZO1 | c.6449A>G (p.Lys2150Arg) c.475A>G c.215A>G (p.Lys72Arg) n.690A>G n.604A>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719596T>G | CA397082328 | PIEZO1 | c.6449A>C (p.Lys2150Thr) c.475A>C c.215A>C (p.Lys72Thr) n.690A>C n.604A>C | gnomAD v4 |
| 16 | g.88719596T= | CA2241244183 | PIEZO1 | c.6449A= (p.Lys2150=) c.475A= c.215A= (p.Lys72=) n.690A= n.604A= | |
| 16 | g.88719596_88719599delinsTTGA | CA2241244182 | PIEZO1 | c.6446_6449delinsTCAA (p.Ile2149=) c.472_475delinsTCAA c.212_215delinsTCAA (p.Ile71=) n.687_690delinsTCAA n.601_604delinsTCAA | |
| 16 | g.88719597T>A | CA397082329 | PIEZO1 | c.6448A>T (p.Lys2150Ter) c.474A>T c.214A>T (p.Lys72Ter) n.689A>T n.603A>T | |
| 16 | g.88719597T>C | CA397082331 | PIEZO1 | c.6448A>G (p.Lys2150Glu) c.474A>G c.214A>G (p.Lys72Glu) n.689A>G n.603A>G | gnomAD v4 |
| 16 | g.88719597T>G | CA397082334 | PIEZO1 | c.6448A>C (p.Lys2150Gln) c.474A>C c.214A>C (p.Lys72Gln) n.689A>C n.603A>C | |
| 16 | g.88719603_88719605del | CA2241244185 | PIEZO1 | c.6446_6448del (p.Ile2149del) c.472_474del c.212_214del (p.Ile71del) n.687_689del n.601_603del | dbSNP gnomAD v4 |
| 16 | g.88719598G>A | CA497075892 | PIEZO1 | c.6447C>T (p.Ile2149=) c.473C>T c.213C>T (p.Ile71=) n.688C>T n.602C>T | |
| 16 | g.88719598G>C | CA397082335 | PIEZO1 | c.6447C>G (p.Ile2149Met) c.473C>G c.213C>G (p.Ile71Met) n.688C>G n.602C>G | gnomAD v4 |
| 16 | g.88719598G>T | CA497075893 | PIEZO1 | c.6447C>A (p.Ile2149=) c.473C>A c.213C>A (p.Ile71=) n.688C>A n.602C>A | gnomAD v4 |
| 16 | g.88719599A= | CA2241244187 | PIEZO1 | c.6446T= (p.Ile2149=) c.472T= c.212T= (p.Ile71=) n.687T= n.601T= | |
| 16 | g.88719599A>C | CA397082337 | PIEZO1 | c.6446T>G (p.Ile2149Ser) c.472T>G c.212T>G (p.Ile71Ser) n.687T>G n.601T>G | |
| 16 | g.88719599A>G | CA397082341 | PIEZO1 | c.6446T>C (p.Ile2149Thr) c.472T>C c.212T>C (p.Ile71Thr) n.687T>C n.601T>C | |
| 16 | g.88719599A>T | CA8231633 | PIEZO1 | c.6446T>A (p.Ile2149Asn) c.472T>A c.212T>A (p.Ile71Asn) n.687T>A n.601T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719600T>A | CA397082344 | PIEZO1 | c.6445A>T (p.Ile2149Phe) c.471A>T c.211A>T (p.Ile71Phe) n.686A>T n.600A>T | |
| 16 | g.88719600T>C | CA397082347 | PIEZO1 | c.6445A>G (p.Ile2149Val) c.471A>G c.211A>G (p.Ile71Val) n.686A>G n.600A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719600T>G | CA397082349 | PIEZO1 | c.6445A>C (p.Ile2149Leu) c.471A>C c.211A>C (p.Ile71Leu) n.686A>C n.600A>C | |
| 16 | g.88719600T= | CA2241244189 | PIEZO1 | c.6445A= (p.Ile2149=) c.471A= c.211A= (p.Ile71=) n.686A= n.600A= | |
| 16 | g.88719601G>A | CA497075898 | PIEZO1 | c.6444C>T (p.Ile2148=) c.470C>T c.210C>T (p.Ile70=) n.685C>T n.599C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719601G>C | CA397082351 | PIEZO1 | c.6444C>G (p.Ile2148Met) c.470C>G c.210C>G (p.Ile70Met) n.685C>G n.599C>G | |
| 16 | g.88719601G= | CA2241244190 | PIEZO1 | c.6444C= (p.Ile2148=) c.470C= c.210C= (p.Ile70=) n.685C= n.599C= | |
| 16 | g.88719601G>T | CA497075899 | PIEZO1 | c.6444C>A (p.Ile2148=) c.470C>A c.210C>A (p.Ile70=) n.685C>A n.599C>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719602A= | CA2241244192 | PIEZO1 | c.6443T= (p.Ile2148=) c.469T= c.209T= (p.Ile70=) n.684T= n.598T= | |
| 16 | g.88719602A>C | CA397082353 | PIEZO1 | c.6443T>G (p.Ile2148Ser) c.469T>G c.209T>G (p.Ile70Ser) n.684T>G n.598T>G | |
| 16 | g.88719602A>G | CA286408804 | PIEZO1 | c.6443T>C (p.Ile2148Thr) c.469T>C c.209T>C (p.Ile70Thr) n.684T>C n.598T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719602A>T | CA397082356 | PIEZO1 | c.6443T>A (p.Ile2148Asn) c.469T>A c.209T>A (p.Ile70Asn) n.684T>A n.598T>A | |
| 16 | g.88719602_88719603insCCTAGACAAGGGGTTACTAGGGCCCAGGGGAGGGGAAACCGAGTGACAGCCAATGGGCACTGGGTTTCT | CA2634869359 | PIEZO1 | c.6442_6443insAGAAACCCAGTGCCCATTGGCTGTCACTCGGTTTCCCCTCCCCTGGGCCCTAGTAACCCCTTGTCTAGG (p.Ile2148LysfsTer18) c.468_469insAGAAACCCAGTGCCCATTGGCTGTCACTCGGTTTCCCCTCCCCTGGGCCCTAGTAACCCCTTGTCTAGG c.208_209insAGAAACCCAGTGCCCATTGGCTGTCACTCGGTTTCCCCTCCCCTGGGCCCTAGTAACCCCTTGTCTAGG (p.Ile70LysfsTer18) n.683_684insAGAAACCCAGTGCCCATTGGCTGTCACTCGGTTTCCCCTCCCCTGGGCCCTAGTAACCCCTTGTCTAGG n.597_598insAGAAACCCAGTGCCCATTGGCTGTCACTCGGTTTCCCCTCCCCTGGGCCCTAGTAACCCCTTGTCTAGG | gnomAD v4 |
| 16 | g.88719603T>A | CA397082367 | PIEZO1 | c.6442A>T (p.Ile2148Phe) c.468A>T c.208A>T (p.Ile70Phe) n.683A>T n.597A>T | gnomAD v4 |
| 16 | g.88719603T>C | CA397082369 | PIEZO1 | c.6442A>G (p.Ile2148Val) c.468A>G c.208A>G (p.Ile70Val) n.683A>G n.597A>G | gnomAD v4 |
| 16 | g.88719603T>G | CA397082370 | PIEZO1 | c.6442A>C (p.Ile2148Leu) c.468A>C c.208A>C (p.Ile70Leu) n.683A>C n.597A>C | |
| 16 | g.88719604G>A | CA8231634 | PIEZO1 | c.6441C>T (p.Phe2147=) c.467C>T c.207C>T (p.Phe69=) n.682C>T n.596C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719604G>C | CA397082374 | PIEZO1 | c.6441C>G (p.Phe2147Leu) c.467C>G c.207C>G (p.Phe69Leu) n.682C>G n.596C>G | |
| 16 | g.88719604G= | CA2241244193 | PIEZO1 | c.6441C= (p.Phe2147=) c.467C= c.207C= (p.Phe69=) n.682C= n.596C= | |
| 16 | g.88719604G>T | CA397082376 | PIEZO1 | c.6441C>A (p.Phe2147Leu) c.467C>A c.207C>A (p.Phe69Leu) n.682C>A n.596C>A | gnomAD v4 |
| 16 | g.88719605A>C | CA397082377 | PIEZO1 | c.6440T>G (p.Phe2147Cys) c.466T>G c.206T>G (p.Phe69Cys) n.681T>G n.595T>G | |
| 16 | g.88719605A>G | CA397082378 | PIEZO1 | c.6440T>C (p.Phe2147Ser) c.466T>C c.206T>C (p.Phe69Ser) n.681T>C n.595T>C | |
| 16 | g.88719605A>T | CA397082379 | PIEZO1 | c.6440T>A (p.Phe2147Tyr) c.466T>A c.206T>A (p.Phe69Tyr) n.681T>A n.595T>A | |
| 16 | g.88719606A>C | CA397082380 | PIEZO1 | c.6439T>G (p.Phe2147Val) c.465T>G c.205T>G (p.Phe69Val) n.680T>G n.594T>G | |
| 16 | g.88719606A>G | CA397082381 | PIEZO1 | c.6439T>C (p.Phe2147Leu) c.465T>C c.205T>C (p.Phe69Leu) n.680T>C n.594T>C | |
| 16 | g.88719606A>T | CA397082383 | PIEZO1 | c.6439T>A (p.Phe2147Ile) c.465T>A c.205T>A (p.Phe69Ile) n.680T>A n.594T>A | gnomAD v4 |
| 16 | g.88719607G>A | CA497075920 | PIEZO1 | c.6438C>T (p.Ile2146=) c.464C>T c.204C>T (p.Ile68=) n.679C>T n.593C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719607G>C | CA397082385 | PIEZO1 | c.6438C>G (p.Ile2146Met) c.464C>G c.204C>G (p.Ile68Met) n.679C>G n.593C>G | gnomAD v4 |
| 16 | g.88719607G= | CA2241244196 | PIEZO1 | c.6438C= (p.Ile2146=) c.464C= c.204C= (p.Ile68=) n.679C= n.593C= | |
| 16 | g.88719607G>T | CA497075921 | PIEZO1 | c.6438C>A (p.Ile2146=) c.464C>A c.204C>A (p.Ile68=) n.679C>A n.593C>A | gnomAD v4 |
| 16 | g.88719608A= | CA2241244198 | PIEZO1 | c.6437T= (p.Ile2146=) c.463T= c.203T= (p.Ile68=) n.678T= n.592T= | |
| 16 | g.88719608A>C | CA397082405 | PIEZO1 | c.6437T>G (p.Ile2146Ser) c.463T>G c.203T>G (p.Ile68Ser) n.678T>G n.592T>G | |
| 16 | g.88719608A>G | CA8231635 | PIEZO1 | c.6437T>C (p.Ile2146Thr) c.463T>C c.203T>C (p.Ile68Thr) n.678T>C n.592T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.88719608A>T | CA397082404 | PIEZO1 | c.6437T>A (p.Ile2146Asn) c.463T>A c.203T>A (p.Ile68Asn) n.678T>A n.592T>A | |
| 16 | g.88719609T>A | CA397082406 | PIEZO1 | c.6436A>T (p.Ile2146Phe) c.462A>T c.202A>T (p.Ile68Phe) n.677A>T n.591A>T | |
| 16 | g.88719609T>C | CA397082407 | PIEZO1 | c.6436A>G (p.Ile2146Val) c.462A>G c.202A>G (p.Ile68Val) n.677A>G n.591A>G | gnomAD v4 |
| 16 | g.88719609T>G | CA397082408 | PIEZO1 | c.6436A>C (p.Ile2146Leu) c.462A>C c.202A>C (p.Ile68Leu) n.677A>C n.591A>C | gnomAD v4 |
| 16 | g.88719609_88719614del | CA2634869378 | PIEZO1 | c.6431_6436del (p.Ala2144_Ile2146delinsVal) c.457_462del c.197_202del (p.Ala66_Ile68delinsVal) n.672_677del n.586_591del | gnomAD v4 |
| 16 | g.88719610G>A | CA497075928 | PIEZO1 | c.6435C>T (p.Asn2145=) c.461C>T c.201C>T (p.Asn67=) n.676C>T n.590C>T | dbSNP gnomAD v4 |
| 16 | g.88719610G>C | CA397082409 | PIEZO1 | c.6435C>G (p.Asn2145Lys) c.461C>G c.201C>G (p.Asn67Lys) n.676C>G n.590C>G | |
| 16 | g.88719610G= | CA2241244199 | PIEZO1 | c.6435C= (p.Asn2145=) c.461C= c.201C= (p.Asn67=) n.676C= n.590C= | |
| 16 | g.88719610G>T | CA397082410 | PIEZO1 | c.6435C>A (p.Asn2145Lys) c.461C>A c.201C>A (p.Asn67Lys) n.676C>A n.590C>A | gnomAD v4 |
| 16 | g.88719611T>A | CA397082419 | PIEZO1 | c.6434A>T (p.Asn2145Ile) c.460A>T c.200A>T (p.Asn67Ile) n.675A>T n.589A>T | |
| 16 | g.88719611T>C | CA397082413 | PIEZO1 | c.6434A>G (p.Asn2145Ser) c.460A>G c.200A>G (p.Asn67Ser) n.675A>G n.589A>G | |
| 16 | g.88719611T>G | CA397082416 | PIEZO1 | c.6434A>C (p.Asn2145Thr) c.460A>C c.200A>C (p.Asn67Thr) n.675A>C n.589A>C | dbSNP gnomAD v4 |
| 16 | g.88719611T= | CA2241244201 | PIEZO1 | c.6434A= (p.Asn2145=) c.460A= c.200A= (p.Asn67=) n.675A= n.589A= | |
| 16 | g.88719612T>A | CA397082802 | PIEZO1 | c.6433A>T (p.Asn2145Tyr) c.459A>T c.199A>T (p.Asn67Tyr) n.674A>T n.588A>T | |
| 16 | g.88719612T>C | CA397082805 | PIEZO1 | c.6433A>G (p.Asn2145Asp) c.459A>G c.199A>G (p.Asn67Asp) n.674A>G n.588A>G | |
| 16 | g.88719612T>G | CA397082808 | PIEZO1 | c.6433A>C (p.Asn2145His) c.459A>C c.199A>C (p.Asn67His) n.674A>C n.588A>C | |
| 16 | g.88719613G>A | CA497363970 | PIEZO1 | c.6432C>T (p.Ala2144=) c.458C>T c.198C>T (p.Ala66=) n.673C>T n.587C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719613G>C | CA497363968 | PIEZO1 | c.6432C>G (p.Ala2144=) c.458C>G c.198C>G (p.Ala66=) n.673C>G n.587C>G | dbSNP |
| 16 | g.88719613G= | CA2241244202 | PIEZO1 | c.6432C= (p.Ala2144=) c.458C= c.198C= (p.Ala66=) n.673C= n.587C= | |
| 16 | g.88719613G>T | CA497363969 | PIEZO1 | c.6432C>A (p.Ala2144=) c.458C>A c.198C>A (p.Ala66=) n.673C>A n.587C>A | gnomAD v4 |
| 16 | g.88719614G>A | CA397082810 | PIEZO1 | c.6431C>T (p.Ala2144Val) c.457C>T c.197C>T (p.Ala66Val) n.672C>T n.586C>T | gnomAD v4 |
| 16 | g.88719614G>C | CA397082819 | PIEZO1 | c.6431C>G (p.Ala2144Gly) c.457C>G c.197C>G (p.Ala66Gly) n.672C>G n.586C>G | |
| 16 | g.88719614G>T | CA397082823 | PIEZO1 | c.6431C>A (p.Ala2144Asp) c.457C>A c.197C>A (p.Ala66Asp) n.672C>A n.586C>A | gnomAD v4 |
| 16 | g.88719615C>A | CA397082828 | PIEZO1 | c.6430G>T (p.Ala2144Ser) c.456G>T c.196G>T (p.Ala66Ser) n.671G>T n.585G>T | gnomAD v4 |
| 16 | g.88719615C= | CA2241244204 | PIEZO1 | c.6430G= (p.Ala2144=) c.456G= c.196G= (p.Ala66=) n.671G= n.585G= | |
| 16 | g.88719615C>G | CA397082832 | PIEZO1 | c.6430G>C (p.Ala2144Pro) c.456G>C c.196G>C (p.Ala66Pro) n.671G>C n.585G>C | |
| 16 | g.88719615C>T | CA397082831 | PIEZO1 | c.6430G>A (p.Ala2144Thr) c.456G>A c.196G>A (p.Ala66Thr) n.671G>A n.585G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719616A= | CA2241244206 | PIEZO1 | c.6429T= (p.Tyr2143=) c.455T= c.195T= (p.Tyr65=) n.670T= n.584T= | |
| 16 | g.88719616A>C | CA397082836 | PIEZO1 | c.6429T>G (p.Tyr2143Ter) c.455T>G c.195T>G (p.Tyr65Ter) n.670T>G n.584T>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719616A>G | CA286409275 | PIEZO1 | c.6429T>C (p.Tyr2143=) c.455T>C c.195T>C (p.Tyr65=) n.670T>C n.584T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719616A>T | CA397082849 | PIEZO1 | c.6429T>A (p.Tyr2143Ter) c.455T>A c.195T>A (p.Tyr65Ter) n.670T>A n.584T>A | |
| 16 | g.88719617_88719618del | CA2634869446 | PIEZO1 | c.6428_6429del (p.Tyr2143CysfsTer?) c.454_455del c.194_195del (p.Tyr65CysfsTer17) n.669_670del n.583_584del | gnomAD v4 |
| 16 | g.88719617T>A | CA397082852 | PIEZO1 | c.6428A>T (p.Tyr2143Phe) c.454A>T c.194A>T (p.Tyr65Phe) n.669A>T n.583A>T | |
| 16 | g.88719617T>C | CA8231636 | PIEZO1 | c.6428A>G (p.Tyr2143Cys) c.454A>G c.194A>G (p.Tyr65Cys) n.669A>G n.583A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719617T>G | CA397082858 | PIEZO1 | c.6428A>C (p.Tyr2143Ser) c.454A>C c.194A>C (p.Tyr65Ser) n.669A>C n.583A>C | |
| 16 | g.88719617T= | CA2241244208 | PIEZO1 | c.6428A= (p.Tyr2143=) c.454A= c.194A= (p.Tyr65=) n.669A= n.583A= | |
| 16 | g.88719618A= | CA2241244209 | PIEZO1 | c.6427T= (p.Tyr2143=) c.453T= c.193T= (p.Tyr65=) n.668T= n.582T= | |
| 16 | g.88719618A>C | CA397082869 | PIEZO1 | c.6427T>G (p.Tyr2143Asp) c.453T>G c.193T>G (p.Tyr65Asp) n.668T>G n.582T>G | |
| 16 | g.88719618A>G | CA397082871 | PIEZO1 | c.6427T>C (p.Tyr2143His) c.453T>C c.193T>C (p.Tyr65His) n.668T>C n.582T>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719618A>T | CA397082873 | PIEZO1 | c.6427T>A (p.Tyr2143Asn) c.453T>A c.193T>A (p.Tyr65Asn) n.668T>A n.582T>A | gnomAD v4 |
| 16 | g.88719619G>A | CA497363971 | PIEZO1 | c.6426C>T (p.Ile2142=) c.452C>T c.192C>T (p.Ile64=) n.667C>T n.581C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719619G>C | CA286409276 | PIEZO1 | c.6426C>G (p.Ile2142Met) c.452C>G c.192C>G (p.Ile64Met) n.667C>G n.581C>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88719619G= | CA2241244211 | PIEZO1 | c.6426C= (p.Ile2142=) c.452C= c.192C= (p.Ile64=) n.667C= n.581C= | |
| 16 | g.88719619G>T | CA497363972 | PIEZO1 | c.6426C>A (p.Ile2142=) c.452C>A c.192C>A (p.Ile64=) n.667C>A n.581C>A | |
| 16 | g.88719620A>C | CA397082876 | PIEZO1 | c.6425T>G (p.Ile2142Ser) c.451T>G c.191T>G (p.Ile64Ser) n.666T>G n.580T>G | |
| 16 | g.88719620A>G | CA397082878 | PIEZO1 | c.6425T>C (p.Ile2142Thr) c.451T>C c.191T>C (p.Ile64Thr) n.666T>C n.580T>C | gnomAD v4 |
| 16 | g.88719620A>T | CA397082879 | PIEZO1 | c.6425T>A (p.Ile2142Asn) c.451T>A c.191T>A (p.Ile64Asn) n.666T>A n.580T>A | gnomAD v4 |
| 16 | g.88719621T>A | CA397082895 | PIEZO1 | c.6424A>T (p.Ile2142Phe) c.450A>T c.190A>T (p.Ile64Phe) n.665A>T n.579A>T | |
| 16 | g.88719621T>C | CA397082903 | PIEZO1 | c.6424A>G (p.Ile2142Val) c.450A>G c.190A>G (p.Ile64Val) n.665A>G n.579A>G | gnomAD v4 |
| 16 | g.88719621T>G | CA397082902 | PIEZO1 | c.6424A>C (p.Ile2142Leu) c.450A>C c.190A>C (p.Ile64Leu) n.665A>C n.579A>C | gnomAD v4 |
| 16 | g.88719622G>A | CA8231637 | PIEZO1 | c.6423C>T (p.Asp2141=) c.449C>T c.189C>T (p.Asp63=) n.664C>T n.578C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719622G>C | CA397082904 | PIEZO1 | c.6423C>G (p.Asp2141Glu) c.449C>G c.189C>G (p.Asp63Glu) n.664C>G n.578C>G | |
| 16 | g.88719622G= | CA2241244214 | PIEZO1 | c.6423C= (p.Asp2141=) c.449C= c.189C= (p.Asp63=) n.664C= n.578C= | |
| 16 | g.88719622G>T | CA397082905 | PIEZO1 | c.6423C>A (p.Asp2141Glu) c.449C>A c.189C>A (p.Asp63Glu) n.664C>A n.578C>A | gnomAD v4 |
| 16 | g.88719623T>A | CA397082906 | PIEZO1 | c.6422A>T (p.Asp2141Val) c.448A>T c.188A>T (p.Asp63Val) n.663A>T n.577A>T | |
| 16 | g.88719623T>C | CA397082907 | PIEZO1 | c.6422A>G (p.Asp2141Gly) c.448A>G c.188A>G (p.Asp63Gly) n.663A>G n.577A>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719623T>G | CA397082908 | PIEZO1 | c.6422A>C (p.Asp2141Ala) c.448A>C c.188A>C (p.Asp63Ala) n.663A>C n.577A>C | |
| 16 | g.88719623T= | CA2241244217 | PIEZO1 | c.6422A= (p.Asp2141=) c.448A= c.188A= (p.Asp63=) n.663A= n.577A= | |
| 16 | g.88719624C>A | CA397082919 | PIEZO1 | c.6421G>T (p.Asp2141Tyr) c.447G>T c.187G>T (p.Asp63Tyr) n.662G>T n.576G>T | gnomAD v4 |
| 16 | g.88719624C= | CA2241244220 | PIEZO1 | c.6421G= (p.Asp2141=) c.447G= c.187G= (p.Asp63=) n.662G= n.576G= | |
| 16 | g.88719624C>G | CA397082911 | PIEZO1 | c.6421G>C (p.Asp2141His) c.447G>C c.187G>C (p.Asp63His) n.662G>C n.576G>C | |
| 16 | g.88719624C>T | CA8231638 | PIEZO1 | c.6421G>A (p.Asp2141Asn) c.447G>A c.187G>A (p.Asp63Asn) n.662G>A n.576G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719625C>A | CA397082923 | PIEZO1 | c.6420G>T (p.Glu2140Asp) c.446G>T c.186G>T (p.Glu62Asp) n.661G>T n.575G>T | gnomAD v4 |
| 16 | g.88719625C= | CA2241244223 | PIEZO1 | c.6420G= (p.Glu2140=) c.446G= c.186G= (p.Glu62=) n.661G= n.575G= | |
| 16 | g.88719625C>G | CA397082927 | PIEZO1 | c.6420G>C (p.Glu2140Asp) c.446G>C c.186G>C (p.Glu62Asp) n.661G>C n.575G>C | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88719625C>T | CA497363974 | PIEZO1 | c.6420G>A (p.Glu2140=) c.446G>A c.186G>A (p.Glu62=) n.661G>A n.575G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719626T>A | CA397082929 | PIEZO1 | c.6419A>T (p.Glu2140Val) c.445A>T c.185A>T (p.Glu62Val) n.660A>T n.574A>T | |
| 16 | g.88719626T>C | CA397082931 | PIEZO1 | c.6419A>G (p.Glu2140Gly) c.445A>G c.185A>G (p.Glu62Gly) n.660A>G n.574A>G | |
| 16 | g.88719626T>G | CA397082936 | PIEZO1 | c.6419A>C (p.Glu2140Ala) c.445A>C c.185A>C (p.Glu62Ala) n.660A>C n.574A>C | |
| 16 | g.88719627C>A | CA397082939 | PIEZO1 | c.6418G>T (p.Glu2140Ter) c.444G>T c.184G>T (p.Glu62Ter) n.659G>T n.573G>T | gnomAD v4 |
| 16 | g.88719627C>G | CA397082943 | PIEZO1 | c.6418G>C (p.Glu2140Gln) c.444G>C c.184G>C (p.Glu62Gln) n.659G>C n.573G>C | |
| 16 | g.88719627C>T | CA397082942 | PIEZO1 | c.6418G>A (p.Glu2140Lys) c.444G>A c.184G>A (p.Glu62Lys) n.659G>A n.573G>A | |
| 16 | g.88719627_88719629delinsCCA | CA2241244225 | PIEZO1 | c.6416_6418delinsTGG (p.Val2139=) c.442_444delinsTGG c.182_184delinsTGG (p.Val61=) n.657_659delinsTGG n.571_573delinsTGG | |
| 16 | g.88719628C>A | CA497363976 | PIEZO1 | c.6417G>T (p.Val2139=) c.443G>T c.183G>T (p.Val61=) n.658G>T n.572G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719628C= | CA2241244228 | PIEZO1 | c.6417G= (p.Val2139=) c.443G= c.183G= (p.Val61=) n.658G= n.572G= | |
| 16 | g.88719628C>G | CA497363978 | PIEZO1 | c.6417G>C (p.Val2139=) c.443G>C c.183G>C (p.Val61=) n.658G>C n.572G>C | gnomAD v4 |
| 16 | g.88719628C>T | CA497363980 | PIEZO1 | c.6417G>A (p.Val2139=) c.443G>A c.183G>A (p.Val61=) n.658G>A n.572G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719634_88719635del | CA624448964 | PIEZO1 | c.6416_6417del (p.Val2139GlyfsTer?) c.442_443del c.182_183del (p.Val61GlyfsTer21) n.657_658del n.571_572del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719629A>C | CA397082947 | PIEZO1 | c.6416T>G (p.Val2139Gly) c.442T>G c.182T>G (p.Val61Gly) n.657T>G n.571T>G | gnomAD v4 |
| 16 | g.88719629A>G | CA397082949 | PIEZO1 | c.6416T>C (p.Val2139Ala) c.442T>C c.182T>C (p.Val61Ala) n.657T>C n.571T>C | gnomAD v4 |
| 16 | g.88719629A>T | CA397082951 | PIEZO1 | c.6416T>A (p.Val2139Glu) c.442T>A c.182T>A (p.Val61Glu) n.657T>A n.571T>A | gnomAD v4 |
| 16 | g.88719630del | CA2634869537 | PIEZO1 | c.6415del (p.Val2139TrpfsTer?) c.441del c.181del (p.Val61TrpfsTer?) n.656del n.570del | gnomAD v4 |
| 16 | g.88719630C>A | CA397082953 | PIEZO1 | c.6415G>T (p.Val2139Leu) c.441G>T c.181G>T (p.Val61Leu) n.656G>T n.570G>T | |
| 16 | g.88719630C>G | CA397082956 | PIEZO1 | c.6415G>C (p.Val2139Leu) c.441G>C c.181G>C (p.Val61Leu) n.656G>C n.570G>C | gnomAD v4 |
| 16 | g.88719630C>T | CA397082957 | PIEZO1 | c.6415G>A (p.Val2139Met) c.441G>A c.181G>A (p.Val61Met) n.656G>A n.570G>A | gnomAD v4 |
| 16 | g.88719631A= | CA2241244229 | PIEZO1 | c.6414T= (p.Cys2138=) c.440T= c.180T= (p.Cys60=) n.655T= n.569T= | |
| 16 | g.88719631A>C | CA286409277 | PIEZO1 | c.6414T>G (p.Cys2138Trp) c.440T>G c.180T>G (p.Cys60Trp) n.655T>G n.569T>G | dbSNP gnomAD v4 |
| 16 | g.88719631A>G | CA497363981 | PIEZO1 | c.6414T>C (p.Cys2138=) c.440T>C c.180T>C (p.Cys60=) n.655T>C n.569T>C | |
| 16 | g.88719631A>T | CA397082958 | PIEZO1 | c.6414T>A (p.Cys2138Ter) c.440T>A c.180T>A (p.Cys60Ter) n.655T>A n.569T>A | |
| 16 | g.88719632C>A | CA397082960 | PIEZO1 | c.6413G>T (p.Cys2138Phe) c.439G>T c.179G>T (p.Cys60Phe) n.654G>T n.568G>T | |
| 16 | g.88719632C= | CA2241244232 | PIEZO1 | c.6413G= (p.Cys2138=) c.439G= c.179G= (p.Cys60=) n.654G= n.568G= | |
| 16 | g.88719632C>G | CA397082965 | PIEZO1 | c.6413G>C (p.Cys2138Ser) c.439G>C c.179G>C (p.Cys60Ser) n.654G>C n.568G>C | |
| 16 | g.88719632C>T | CA397082967 | PIEZO1 | c.6413G>A (p.Cys2138Tyr) c.439G>A c.179G>A (p.Cys60Tyr) n.654G>A n.568G>A | dbSNP gnomAD v4 |
| 16 | g.88719633A= | CA2241244234 | PIEZO1 | c.6412T= (p.Cys2138=) c.438T= c.178T= (p.Cys60=) n.653T= n.567T= | |
| 16 | g.88719633A>C | CA397082969 | PIEZO1 | c.6412T>G (p.Cys2138Gly) c.438T>G c.178T>G (p.Cys60Gly) n.653T>G n.567T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719633A>G | CA397082975 | PIEZO1 | c.6412T>C (p.Cys2138Arg) c.438T>C c.178T>C (p.Cys60Arg) n.653T>C n.567T>C | gnomAD v4 |
| 16 | g.88719633A>T | CA397082972 | PIEZO1 | c.6412T>A (p.Cys2138Ser) c.438T>A c.178T>A (p.Cys60Ser) n.653T>A n.567T>A | |
| 16 | g.88719634C>A | CA397082978 | PIEZO1 | c.6411G>T (p.Met2137Ile) c.437G>T c.177G>T (p.Met59Ile) n.652G>T n.566G>T | gnomAD v4 |
| 16 | g.88719634C= | CA2241244235 | PIEZO1 | c.6411G= (p.Met2137=) c.437G= c.177G= (p.Met59=) n.652G= n.566G= | |
| 16 | g.88719634C>G | CA397082981 | PIEZO1 | c.6411G>C (p.Met2137Ile) c.437G>C c.177G>C (p.Met59Ile) n.652G>C n.566G>C | |
| 16 | g.88719634C>T | CA286409278 | PIEZO1 | c.6411G>A (p.Met2137Ile) c.437G>A c.177G>A (p.Met59Ile) n.652G>A n.566G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719635A>C | CA397082983 | PIEZO1 | c.6410T>G (p.Met2137Arg) c.436T>G c.176T>G (p.Met59Arg) n.651T>G n.565T>G | |
| 16 | g.88719635A>G | CA397082987 | PIEZO1 | c.6410T>C (p.Met2137Thr) c.436T>C c.176T>C (p.Met59Thr) n.651T>C n.565T>C | gnomAD v4 |
| 16 | g.88719635A>T | CA397082990 | PIEZO1 | c.6410T>A (p.Met2137Lys) c.436T>A c.176T>A (p.Met59Lys) n.651T>A n.565T>A | |
| 16 | g.88719636T>A | CA397082994 | PIEZO1 | c.6409A>T (p.Met2137Leu) c.435A>T c.175A>T (p.Met59Leu) n.650A>T n.564A>T | |
| 16 | g.88719636T>C | CA397082997 | PIEZO1 | c.6409A>G (p.Met2137Val) c.435A>G c.175A>G (p.Met59Val) n.650A>G n.564A>G | |
| 16 | g.88719636T>G | CA397083003 | PIEZO1 | c.6409A>C (p.Met2137Leu) c.435A>C c.175A>C (p.Met59Leu) n.650A>C n.564A>C | |
| 16 | g.88719637C>A | CA397083009 | PIEZO1 | c.6408G>T (p.Trp2136Cys) c.434G>T c.174G>T (p.Trp58Cys) n.649G>T n.563G>T | gnomAD v4 |
| 16 | g.88719637C>G | CA397083012 | PIEZO1 | c.6408G>C (p.Trp2136Cys) c.434G>C c.174G>C (p.Trp58Cys) n.649G>C n.563G>C | |
| 16 | g.88719637C>T | CA397083015 | PIEZO1 | c.6408G>A (p.Trp2136Ter) c.434G>A c.174G>A (p.Trp58Ter) n.649G>A n.563G>A | |
| 16 | g.88719638C>A | CA397083018 | PIEZO1 | c.6407G>T (p.Trp2136Leu) c.433G>T c.173G>T (p.Trp58Leu) n.648G>T n.562G>T | ClinVar gnomAD v4 |
| 16 | g.88719638C>G | CA397083019 | PIEZO1 | c.6407G>C (p.Trp2136Ser) c.433G>C c.173G>C (p.Trp58Ser) n.648G>C n.562G>C | |
| 16 | g.88719638C>T | CA397083021 | PIEZO1 | c.6407G>A (p.Trp2136Ter) c.433G>A c.173G>A (p.Trp58Ter) n.648G>A n.562G>A | gnomAD v4 |
| 16 | g.88719639A>C | CA397083033 | PIEZO1 | c.6406T>G (p.Trp2136Gly) c.432T>G c.172T>G (p.Trp58Gly) n.647T>G n.561T>G | |
| 16 | g.88719639A>G | CA397083045 | PIEZO1 | c.6406T>C (p.Trp2136Arg) c.432T>C c.172T>C (p.Trp58Arg) n.647T>C n.561T>C | gnomAD v4 |
| 16 | g.88719639A>T | CA397083043 | PIEZO1 | c.6406T>A (p.Trp2136Arg) c.432T>A c.172T>A (p.Trp58Arg) n.647T>A n.561T>A | gnomAD v4 |
| 16 | g.88719640G>A | CA497363987 | PIEZO1 | c.6405C>T (p.Ser2135=) c.431C>T c.171C>T (p.Ser57=) n.646C>T n.560C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719640G>C | CA397083048 | PIEZO1 | c.6405C>G (p.Ser2135Arg) c.431C>G c.171C>G (p.Ser57Arg) n.646C>G n.560C>G | gnomAD v4 |
| 16 | g.88719640G= | CA2241244237 | PIEZO1 | c.6405C= (p.Ser2135=) c.431C= c.171C= (p.Ser57=) n.646C= n.560C= | |
| 16 | g.88719640G>T | CA397083052 | PIEZO1 | c.6405C>A (p.Ser2135Arg) c.431C>A c.171C>A (p.Ser57Arg) n.646C>A n.560C>A | gnomAD v4 |
| 16 | g.88719641C>A | CA397083054 | PIEZO1 | c.6404G>T (p.Ser2135Ile) c.430G>T c.170G>T (p.Ser57Ile) n.645G>T n.559G>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88719641C= | CA2241244239 | PIEZO1 | c.6404G= (p.Ser2135=) c.430G= c.170G= (p.Ser57=) n.645G= n.559G= | |
| 16 | g.88719641C>G | CA397083058 | PIEZO1 | c.6404G>C (p.Ser2135Thr) c.430G>C c.170G>C (p.Ser57Thr) n.645G>C n.559G>C | |
| 16 | g.88719641C>T | CA397083061 | PIEZO1 | c.6404G>A (p.Ser2135Asn) c.430G>A c.170G>A (p.Ser57Asn) n.645G>A n.559G>A | gnomAD v4 |
| 16 | g.88719642T>A | CA397083064 | PIEZO1 | c.6403A>T (p.Ser2135Cys) c.429A>T c.169A>T (p.Ser57Cys) n.644A>T n.558A>T | |
| 16 | g.88719642T>C | CA397083081 | PIEZO1 | c.6403A>G (p.Ser2135Gly) c.429A>G c.169A>G (p.Ser57Gly) n.644A>G n.558A>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88719642T>G | CA397083087 | PIEZO1 | c.6403A>C (p.Ser2135Arg) c.429A>C c.169A>C (p.Ser57Arg) n.644A>C n.558A>C | |
| 16 | g.88719642T= | CA2241244241 | PIEZO1 | c.6403A= (p.Ser2135=) c.429A= c.169A= (p.Ser57=) n.644A= n.558A= | |
| 16 | g.88719643G>A | CA286409279 | PIEZO1 | c.6402C>T (p.Ser2134=) c.428C>T c.168C>T (p.Ser56=) n.643C>T n.557C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88719643G>C | CA497363989 | PIEZO1 | c.6402C>G (p.Ser2134=) c.428C>G c.168C>G (p.Ser56=) n.643C>G n.557C>G | |
| 16 | g.88719643G= | CA2241244243 | PIEZO1 | c.6402C= (p.Ser2134=) c.428C= c.168C= (p.Ser56=) n.643C= n.557C= | |
| 16 | g.88719643G>T | CA497363990 | PIEZO1 | c.6402C>A (p.Ser2134=) c.428C>A c.168C>A (p.Ser56=) n.643C>A n.557C>A | gnomAD v4 |
| 16 | g.88719644G>A | CA397083091 | PIEZO1 | c.6401C>T (p.Ser2134Phe) c.427C>T c.167C>T (p.Ser56Phe) n.642C>T n.556C>T | gnomAD v4 |
| 16 | g.88719644G>C | CA397083092 | PIEZO1 | c.6401C>G (p.Ser2134Cys) c.427C>G c.167C>G (p.Ser56Cys) n.642C>G n.556C>G | gnomAD v4 COSMIC |
| 16 | g.88719644G>T | CA397083090 | PIEZO1 | c.6401C>A (p.Ser2134Tyr) c.427C>A c.167C>A (p.Ser56Tyr) n.642C>A n.556C>A | gnomAD v4 |
| 16 | g.88719645A>C | CA397083093 | PIEZO1 | c.6400T>G (p.Ser2134Ala) c.426T>G c.166T>G (p.Ser56Ala) n.641T>G n.555T>G | |
| 16 | g.88719645A>G | CA397083096 | PIEZO1 | c.6400T>C (p.Ser2134Pro) c.426T>C c.166T>C (p.Ser56Pro) n.641T>C n.555T>C | |
| 16 | g.88719645A>T | CA397083098 | PIEZO1 | c.6400T>A (p.Ser2134Thr) c.426T>A c.166T>A (p.Ser56Thr) n.641T>A n.555T>A | |
| 16 | g.88719646C>A | CA497363994 | PIEZO1 | c.6399G>T (p.Leu2133=) c.425G>T c.165G>T (p.Leu55=) n.640G>T n.554G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719646C= | CA2241244248 | PIEZO1 | c.6399G= (p.Leu2133=) c.425G= c.165G= (p.Leu55=) n.640G= n.554G= | |
| 16 | g.88719646C>G | CA497363995 | PIEZO1 | c.6399G>C (p.Leu2133=) c.425G>C c.165G>C (p.Leu55=) n.640G>C n.554G>C | |
| 16 | g.88719646C>T | CA497363996 | PIEZO1 | c.6399G>A (p.Leu2133=) c.425G>A c.165G>A (p.Leu55=) n.640G>A n.554G>A | |
| 16 | g.88719646_88719648delinsCAG | CA2241244247 | PIEZO1 | c.6397_6399delinsCTG (p.Leu2133=) c.423_425delinsCTG c.163_165delinsCTG (p.Leu55=) n.638_640delinsCTG n.552_554delinsCTG | |
| 16 | g.88719647A= | CA2241244250 | PIEZO1 | c.6398T= (p.Leu2133=) c.424T= c.164T= (p.Leu55=) n.639T= n.553T= | |
| 16 | g.88719647A>C | CA397083101 | PIEZO1 | c.6398T>G (p.Leu2133Arg) c.424T>G c.164T>G (p.Leu55Arg) n.639T>G n.553T>G | |
| 16 | g.88719647A>G | CA397083104 | PIEZO1 | c.6398T>C (p.Leu2133Pro) c.424T>C c.164T>C (p.Leu55Pro) n.639T>C n.553T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719647A>T | CA397083108 | PIEZO1 | c.6398T>A (p.Leu2133Gln) c.424T>A c.164T>A (p.Leu55Gln) n.639T>A n.553T>A | gnomAD v4 |
| 16 | g.88719647_88719648del | CA624448965 | PIEZO1 | c.6397_6398del (p.Leu2133ValfsTer?) c.423_424del c.163_164del (p.Leu55ValfsTer27) n.638_639del n.552_553del | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719648G>A | CA497363998 | PIEZO1 | c.6397C>T (p.Leu2133=) c.423C>T c.163C>T (p.Leu55=) n.638C>T n.552C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88719648G>C | CA397083122 | PIEZO1 | c.6397C>G (p.Leu2133Val) c.423C>G c.163C>G (p.Leu55Val) n.638C>G n.552C>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719648G= | CA2241244252 | PIEZO1 | c.6397C= (p.Leu2133=) c.423C= c.163C= (p.Leu55=) n.638C= n.552C= | |
| 16 | g.88719648G>T | CA397083118 | PIEZO1 | c.6397C>A (p.Leu2133Met) c.423C>A c.163C>A (p.Leu55Met) n.638C>A n.552C>A | gnomAD v4 |
| 16 | g.88719649G>A | CA286409280 | PIEZO1 | c.6396C>T (p.Ser2132=) c.422C>T c.162C>T (p.Ser54=) n.637C>T n.551C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719649G>C | CA497363999 | PIEZO1 | c.6396C>G (p.Ser2132=) c.422C>G c.162C>G (p.Ser54=) n.637C>G n.551C>G | |
| 16 | g.88719649G= | CA2241244253 | PIEZO1 | c.6396C= (p.Ser2132=) c.422C= c.162C= (p.Ser54=) n.637C= n.551C= | |
| 16 | g.88719649G>T | CA497364000 | PIEZO1 | c.6396C>A (p.Ser2132=) c.422C>A c.162C>A (p.Ser54=) n.637C>A n.551C>A | gnomAD v4 |
| 16 | g.88719650G>A | CA397083126 | PIEZO1 | c.6395C>T (p.Ser2132Phe) c.421C>T c.161C>T (p.Ser54Phe) n.636C>T n.550C>T | dbSNP gnomAD v4 |
| 16 | g.88719650G>C | CA397083132 | PIEZO1 | c.6395C>G (p.Ser2132Cys) c.421C>G c.161C>G (p.Ser54Cys) n.636C>G n.550C>G | gnomAD v4 |
| 16 | g.88719650G= | CA2241244255 | PIEZO1 | c.6395C= (p.Ser2132=) c.421C= c.161C= (p.Ser54=) n.636C= n.550C= | |
| 16 | g.88719650G>T | CA397083133 | PIEZO1 | c.6395C>A (p.Ser2132Tyr) c.421C>A c.161C>A (p.Ser54Tyr) n.636C>A n.550C>A | gnomAD v4 |
| 16 | g.88719651A>C | CA397083135 | PIEZO1 | c.6394T>G (p.Ser2132Ala) c.420T>G c.160T>G (p.Ser54Ala) n.635T>G n.549T>G | |
| 16 | g.88719651A>G | CA397083138 | PIEZO1 | c.6394T>C (p.Ser2132Pro) c.420T>C c.160T>C (p.Ser54Pro) n.635T>C n.549T>C | gnomAD v4 |
| 16 | g.88719651A>T | CA397083140 | PIEZO1 | c.6394T>A (p.Ser2132Thr) c.420T>A c.160T>A (p.Ser54Thr) n.635T>A n.549T>A | gnomAD v4 |
| 16 | g.88719652C>A | CA497364004 | PIEZO1 | c.6393G>T (p.Leu2131=) c.419G>T c.159G>T (p.Leu53=) n.634G>T n.548G>T | gnomAD v4 |
| 16 | g.88719652C>G | CA497364005 | PIEZO1 | c.6393G>C (p.Leu2131=) c.419G>C c.159G>C (p.Leu53=) n.634G>C n.548G>C | gnomAD v4 |
| 16 | g.88719652C>T | CA497364006 | PIEZO1 | c.6393G>A (p.Leu2131=) c.419G>A c.159G>A (p.Leu53=) n.634G>A n.548G>A | gnomAD v4 |
| 16 | g.88719653A>C | CA397083143 | PIEZO1 | c.6392T>G (p.Leu2131Arg) c.418T>G c.158T>G (p.Leu53Arg) n.633T>G n.547T>G | |
| 16 | g.88719653A>G | CA397083151 | PIEZO1 | c.6392T>C (p.Leu2131Pro) c.418T>C c.158T>C (p.Leu53Pro) n.633T>C n.547T>C | ClinVar gnomAD v4 |
| 16 | g.88719653A>T | CA397083145 | PIEZO1 | c.6392T>A (p.Leu2131Gln) c.418T>A c.158T>A (p.Leu53Gln) n.633T>A n.547T>A | |
| 16 | g.88719654G>A | CA497364009 | PIEZO1 | c.6391C>T (p.Leu2131=) c.417C>T c.157C>T (p.Leu53=) n.632C>T n.546C>T | gnomAD v4 |
| 16 | g.88719654G>C | CA397083152 | PIEZO1 | c.6391C>G (p.Leu2131Val) c.417C>G c.157C>G (p.Leu53Val) n.632C>G n.546C>G | dbSNP gnomAD v4 |
| 16 | g.88719654G= | CA2241244257 | PIEZO1 | c.6391C= (p.Leu2131=) c.417C= c.157C= (p.Leu53=) n.632C= n.546C= | |
| 16 | g.88719654G>T | CA397083155 | PIEZO1 | c.6391C>A (p.Leu2131Met) c.417C>A c.157C>A (p.Leu53Met) n.632C>A n.546C>A | gnomAD v4 |
| 16 | g.88719655C>A | CA497364010 | PIEZO1 | c.6390G>T (p.Thr2130=) c.416G>T c.156G>T (p.Thr52=) n.631G>T n.545G>T | gnomAD v4 |
| 16 | g.88719655C= | CA2241244260 | PIEZO1 | c.6390G= (p.Thr2130=) c.416G= c.156G= (p.Thr52=) n.631G= n.545G= | |
| 16 | g.88719655C>G | CA497364011 | PIEZO1 | c.6390G>C (p.Thr2130=) c.416G>C c.156G>C (p.Thr52=) n.631G>C n.545G>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719655C>T | CA8231639 | PIEZO1 | c.6390G>A (p.Thr2130=) c.416G>A c.156G>A (p.Thr52=) n.631G>A n.545G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719656G>A | CA8231640 | PIEZO1 | c.6389C>T (p.Thr2130Met) c.415C>T c.155C>T (p.Thr52Met) n.630C>T n.544C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.88719656G>C | CA397083163 | PIEZO1 | c.6389C>G (p.Thr2130Arg) c.415C>G c.155C>G (p.Thr52Arg) n.630C>G n.544C>G | |
| 16 | g.88719656G= | CA2241244263 | PIEZO1 | c.6389C= (p.Thr2130=) c.415C= c.155C= (p.Thr52=) n.630C= n.544C= | |
| 16 | g.88719656G>T | CA397083166 | PIEZO1 | c.6389C>A (p.Thr2130Lys) c.415C>A c.155C>A (p.Thr52Lys) n.630C>A n.544C>A | gnomAD v4 |
| 16 | g.88719657T>A | CA397083171 | PIEZO1 | c.6388A>T (p.Thr2130Ser) c.414A>T c.154A>T (p.Thr52Ser) n.629A>T n.543A>T | gnomAD v4 |
| 16 | g.88719657T>C | CA397083174 | PIEZO1 | c.6388A>G (p.Thr2130Ala) c.414A>G c.154A>G (p.Thr52Ala) n.629A>G n.543A>G | gnomAD v4 |
| 16 | g.88719657T>G | CA8231641 | PIEZO1 | c.6388A>C (p.Thr2130Pro) c.414A>C c.154A>C (p.Thr52Pro) n.629A>C n.543A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.88719657T= | CA2241244265 | PIEZO1 | c.6388A= (p.Thr2130=) c.414A= c.154A= (p.Thr52=) n.629A= n.543A= | |
| 16 | g.88719658G>A | CA497364012 | PIEZO1 | c.6387C>T (p.Thr2129=) c.413C>T c.153C>T (p.Thr51=) n.628C>T n.542C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719658G>C | CA497364013 | PIEZO1 | c.6387C>G (p.Thr2129=) c.413C>G c.153C>G (p.Thr51=) n.628C>G n.542C>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719658G= | CA2241244268 | PIEZO1 | c.6387C= (p.Thr2129=) c.413C= c.153C= (p.Thr51=) n.628C= n.542C= | |
| 16 | g.88719658G>T | CA497364014 | PIEZO1 | c.6387C>A (p.Thr2129=) c.413C>A c.153C>A (p.Thr51=) n.628C>A n.542C>A | gnomAD v4 |
| 16 | g.88719659G>A | CA397083179 | PIEZO1 | c.6386C>T (p.Thr2129Ile) c.412C>T c.152C>T (p.Thr51Ile) n.627C>T n.541C>T | dbSNP gnomAD v4 |
| 16 | g.88719659G>C | CA397083188 | PIEZO1 | c.6386C>G (p.Thr2129Ser) c.412C>G c.152C>G (p.Thr51Ser) n.627C>G n.541C>G | gnomAD v4 |
| 16 | g.88719659G= | CA2241244270 | PIEZO1 | c.6386C= (p.Thr2129=) c.412C= c.152C= (p.Thr51=) n.627C= n.541C= | |
| 16 | g.88719659G>T | CA8231642 | PIEZO1 | c.6386C>A (p.Thr2129Asn) c.412C>A c.152C>A (p.Thr51Asn) n.627C>A n.541C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719660T>A | CA397083200 | PIEZO1 | c.6385A>T (p.Thr2129Ser) c.411A>T c.151A>T (p.Thr51Ser) n.626A>T n.540A>T | |
| 16 | g.88719660T>C | CA397083203 | PIEZO1 | c.6385A>G (p.Thr2129Ala) c.411A>G c.151A>G (p.Thr51Ala) n.626A>G n.540A>G | dbSNP |
| 16 | g.88719660T>G | CA397083194 | PIEZO1 | c.6385A>C (p.Thr2129Pro) c.411A>C c.151A>C (p.Thr51Pro) n.626A>C n.540A>C | |
| 16 | g.88719660T= | CA2241244271 | PIEZO1 | c.6385A= (p.Thr2129=) c.411A= c.151A= (p.Thr51=) n.626A= n.540A= | |
| 16 | g.88719661G>A | CA497364017 | PIEZO1 | c.6384C>T (p.Asp2128=) c.410C>T c.150C>T (p.Asp50=) n.625C>T n.539C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719661G>C | CA397083214 | PIEZO1 | c.6384C>G (p.Asp2128Glu) c.410C>G c.150C>G (p.Asp50Glu) n.625C>G n.539C>G | gnomAD v4 |
| 16 | g.88719661G= | CA2241244273 | PIEZO1 | c.6384C= (p.Asp2128=) c.410C= c.150C= (p.Asp50=) n.625C= n.539C= | |
| 16 | g.88719661G>T | CA397083208 | PIEZO1 | c.6384C>A (p.Asp2128Glu) c.410C>A c.150C>A (p.Asp50Glu) n.625C>A n.539C>A | gnomAD v4 |
| 16 | g.88719662T>A | CA397083218 | PIEZO1 | c.6383A>T (p.Asp2128Val) c.409A>T c.149A>T (p.Asp50Val) n.624A>T n.538A>T | |
| 16 | g.88719662T>C | CA397083216 | PIEZO1 | c.6383A>G (p.Asp2128Gly) c.409A>G c.149A>G (p.Asp50Gly) n.624A>G n.538A>G | gnomAD v4 |
| 16 | g.88719662T>G | CA397083231 | PIEZO1 | c.6383A>C (p.Asp2128Ala) c.409A>C c.149A>C (p.Asp50Ala) n.624A>C n.538A>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88719662T= | CA2241244275 | PIEZO1 | c.6383A= (p.Asp2128=) c.409A= c.149A= (p.Asp50=) n.624A= n.538A= | |
| 16 | g.88719663C>A | CA397083234 | PIEZO1 | c.6382G>T (p.Asp2128Tyr) c.408G>T c.148G>T (p.Asp50Tyr) n.623G>T n.537G>T | gnomAD v4 |
| 16 | g.88719663C>G | CA397083239 | PIEZO1 | c.6382G>C (p.Asp2128His) c.408G>C c.148G>C (p.Asp50His) n.623G>C n.537G>C | |
| 16 | g.88719663C>T | CA397083242 | PIEZO1 | c.6382G>A (p.Asp2128Asn) c.408G>A c.148G>A (p.Asp50Asn) n.623G>A n.537G>A | gnomAD v4 |
| 16 | g.88719664C>A | CA497364020 | PIEZO1 | c.6381G>T (p.Thr2127=) c.407G>T c.147G>T (p.Thr49=) n.622G>T n.536G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719664C= | CA2241244277 | PIEZO1 | c.6381G= (p.Thr2127=) c.407G= c.147G= (p.Thr49=) n.622G= n.536G= | |
| 16 | g.88719664C>G | CA497364019 | PIEZO1 | c.6381G>C (p.Thr2127=) c.407G>C c.147G>C (p.Thr49=) n.622G>C n.536G>C | gnomAD v4 |
| 16 | g.88719664C>T | CA8231643 | PIEZO1 | c.6381G>A (p.Thr2127=) c.407G>A c.147G>A (p.Thr49=) n.622G>A n.536G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |