Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.10762487A>TCA2641014147PIEZO2c.3249+13T>A (n.3249+13T>A)
n.3306+13T>A
c.3174+13T>A (n.3174+13T>A)
c.3027+13T>A (n.3027+13T>A)
c.3216+13T>A (n.3216+13T>A)
c.3306+13T>A (n.3306+13T>A)
c.3267+13T>A (n.3267+13T>A)
n.4303+13T>A
 gnomAD v4
18g.10762489A>GCA2576456615PIEZO2c.3249+11T>C (n.3249+11T>C)
n.3306+11T>C
c.3174+11T>C (n.3174+11T>C)
c.3027+11T>C (n.3027+11T>C)
c.3216+11T>C (n.3216+11T>C)
c.3306+11T>C (n.3306+11T>C)
c.3267+11T>C (n.3267+11T>C)
n.4303+11T>C
 dbSNP gnomAD v3 gnomAD v4
18g.10762492G>ACA645600126PIEZO2c.3249+8C>T (n.3249+8C>T)
n.3306+8C>T
c.3174+8C>T (n.3174+8C>T)
c.3027+8C>T (n.3027+8C>T)
c.3216+8C>T (n.3216+8C>T)
c.3306+8C>T (n.3306+8C>T)
c.3267+8C>T (n.3267+8C>T)
n.4303+8C>T
 COSMIC COSMIC
18g.10762492G>TCA645600116PIEZO2c.3249+8C>A (n.3249+8C>A)
n.3306+8C>A
c.3174+8C>A (n.3174+8C>A)
c.3027+8C>A (n.3027+8C>A)
c.3216+8C>A (n.3216+8C>A)
c.3306+8C>A (n.3306+8C>A)
c.3267+8C>A (n.3267+8C>A)
n.4303+8C>A
 COSMIC COSMIC
18g.10762493C=CA2284452399PIEZO2c.3249+7G= (n.3249+7G=)
n.3306+7G=
c.3174+7G= (n.3174+7G=)
c.3027+7G= (n.3027+7G=)
c.3216+7G= (n.3216+7G=)
c.3306+7G= (n.3306+7G=)
c.3267+7G= (n.3267+7G=)
n.4303+7G=
18g.10762493C>TCA296032266PIEZO2c.3249+7G>A (n.3249+7G>A)
n.3306+7G>A
c.3174+7G>A (n.3174+7G>A)
c.3027+7G>A (n.3027+7G>A)
c.3216+7G>A (n.3216+7G>A)
c.3306+7G>A (n.3306+7G>A)
c.3267+7G>A (n.3267+7G>A)
n.4303+7G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10762494C=CA2284452400PIEZO2c.3249+6G= (n.3249+6G=)
n.3306+6G=
c.3174+6G= (n.3174+6G=)
c.3027+6G= (n.3027+6G=)
c.3216+6G= (n.3216+6G=)
c.3306+6G= (n.3306+6G=)
c.3267+6G= (n.3267+6G=)
n.4303+6G=
18g.10762494C>TCA776072353PIEZO2c.3249+6G>A (n.3249+6G>A)
n.3306+6G>A
c.3174+6G>A (n.3174+6G>A)
c.3027+6G>A (n.3027+6G>A)
c.3216+6G>A (n.3216+6G>A)
c.3306+6G>A (n.3306+6G>A)
c.3267+6G>A (n.3267+6G>A)
n.4303+6G>A
 dbSNP gnomAD v3 gnomAD v4
18g.10762495A=CA2284452401PIEZO2c.3249+5T= (n.3249+5T=)
n.3306+5T=
c.3174+5T= (n.3174+5T=)
c.3027+5T= (n.3027+5T=)
c.3216+5T= (n.3216+5T=)
c.3306+5T= (n.3306+5T=)
c.3267+5T= (n.3267+5T=)
n.4303+5T=
18g.10762495A>GCA2284452402PIEZO2c.3249+5T>C (n.3249+5T>C)
n.3306+5T>C
c.3174+5T>C (n.3174+5T>C)
c.3027+5T>C (n.3027+5T>C)
c.3216+5T>C (n.3216+5T>C)
c.3306+5T>C (n.3306+5T>C)
c.3267+5T>C (n.3267+5T>C)
n.4303+5T>C
 dbSNP
18g.10762498A=CA2284452403PIEZO2c.3249+2T= (n.3249+2T=)
n.3306+2T=
c.3174+2T= (n.3174+2T=)
c.3027+2T= (n.3027+2T=)
c.3216+2T= (n.3216+2T=)
c.3306+2T= (n.3306+2T=)
c.3267+2T= (n.3267+2T=)
n.4303+2T=
18g.10762498A>CCA401923493PIEZO2c.3249+2T>G (n.3249+2T>G)
n.3306+2T>G
c.3174+2T>G (n.3174+2T>G)
c.3027+2T>G (n.3027+2T>G)
c.3216+2T>G (n.3216+2T>G)
c.3306+2T>G (n.3306+2T>G)
c.3267+2T>G (n.3267+2T>G)
n.4303+2T>G
 dbSNP
18g.10762498A>GCA401923494PIEZO2c.3249+2T>C (n.3249+2T>C)
n.3306+2T>C
c.3174+2T>C (n.3174+2T>C)
c.3027+2T>C (n.3027+2T>C)
c.3216+2T>C (n.3216+2T>C)
c.3306+2T>C (n.3306+2T>C)
c.3267+2T>C (n.3267+2T>C)
n.4303+2T>C
18g.10762498A>TCA401923495PIEZO2c.3249+2T>A (n.3249+2T>A)
n.3306+2T>A
c.3174+2T>A (n.3174+2T>A)
c.3027+2T>A (n.3027+2T>A)
c.3216+2T>A (n.3216+2T>A)
c.3306+2T>A (n.3306+2T>A)
c.3267+2T>A (n.3267+2T>A)
n.4303+2T>A
18g.10762499C>ACA401923496PIEZO2c.3249+1G>T (n.3249+1G>T)
n.3306+1G>T
c.3174+1G>T (n.3174+1G>T)
c.3027+1G>T (n.3027+1G>T)
c.3216+1G>T (n.3216+1G>T)
c.3306+1G>T (n.3306+1G>T)
c.3267+1G>T (n.3267+1G>T)
n.4303+1G>T
18g.10762499C=CA2284452404PIEZO2c.3249+1G= (n.3249+1G=)
n.3306+1G=
c.3174+1G= (n.3174+1G=)
c.3027+1G= (n.3027+1G=)
c.3216+1G= (n.3216+1G=)
c.3306+1G= (n.3306+1G=)
c.3267+1G= (n.3267+1G=)
n.4303+1G=
18g.10762499C>GCA401923497PIEZO2c.3249+1G>C (n.3249+1G>C)
n.3306+1G>C
c.3174+1G>C (n.3174+1G>C)
c.3027+1G>C (n.3027+1G>C)
c.3216+1G>C (n.3216+1G>C)
c.3306+1G>C (n.3306+1G>C)
c.3267+1G>C (n.3267+1G>C)
n.4303+1G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10762499C>TCA401923498PIEZO2c.3249+1G>A (n.3249+1G>A)
n.3306+1G>A
c.3174+1G>A (n.3174+1G>A)
c.3027+1G>A (n.3027+1G>A)
c.3216+1G>A (n.3216+1G>A)
c.3306+1G>A (n.3306+1G>A)
c.3267+1G>A (n.3267+1G>A)
n.4303+1G>A
 gnomAD v4 COSMIC COSMIC
18g.10762500C>ACA401923499PIEZO2c.3249G>T (p.Arg1083Ser)
n.3306G>T
c.3174G>T (p.Arg1058Ser)
c.3027G>T (p.Arg1009Ser)
c.3216G>T (p.Arg1072Ser)
c.3306G>T (p.Arg1102Ser)
c.3267G>T (p.Arg1089Ser)
n.4303G>T
18g.10762500C>GCA401923500PIEZO2c.3249G>C (p.Arg1083Ser)
n.3306G>C
c.3174G>C (p.Arg1058Ser)
c.3027G>C (p.Arg1009Ser)
c.3216G>C (p.Arg1072Ser)
c.3306G>C (p.Arg1102Ser)
c.3267G>C (p.Arg1089Ser)
n.4303G>C
 ClinVar
18g.10762500C>TCA502900347PIEZO2c.3249G>A (p.Arg1083=)
n.3306G>A
c.3174G>A (p.Arg1058=)
c.3027G>A (p.Arg1009=)
c.3216G>A (p.Arg1072=)
c.3306G>A (p.Arg1102=)
c.3267G>A (p.Arg1089=)
n.4303G>A
18g.10762501C>ACA401923503PIEZO2c.3248G>T (p.Arg1083Met)
n.3305G>T
c.3173G>T (p.Arg1058Met)
c.3026G>T (p.Arg1009Met)
c.3215G>T (p.Arg1072Met)
c.3305G>T (p.Arg1102Met)
c.3266G>T (p.Arg1089Met)
n.4302G>T
 dbSNP gnomAD v2 gnomAD v4
18g.10762501C=CA2284452405PIEZO2c.3248G= (p.Arg1083=)
n.3305G=
c.3173G= (p.Arg1058=)
c.3026G= (p.Arg1009=)
c.3215G= (p.Arg1072=)
c.3305G= (p.Arg1102=)
c.3266G= (p.Arg1089=)
n.4302G=
18g.10762501C>GCA401923501PIEZO2c.3248G>C (p.Arg1083Thr)
n.3305G>C
c.3173G>C (p.Arg1058Thr)
c.3026G>C (p.Arg1009Thr)
c.3215G>C (p.Arg1072Thr)
c.3305G>C (p.Arg1102Thr)
c.3266G>C (p.Arg1089Thr)
n.4302G>C
18g.10762501C>TCA401923502PIEZO2c.3248G>A (p.Arg1083Lys)
n.3305G>A
c.3173G>A (p.Arg1058Lys)
c.3026G>A (p.Arg1009Lys)
c.3215G>A (p.Arg1072Lys)
c.3305G>A (p.Arg1102Lys)
c.3266G>A (p.Arg1089Lys)
n.4302G>A
 dbSNP gnomAD v4
18g.10762502T>ACA401923504PIEZO2c.3247A>T (p.Arg1083Trp)
n.3304A>T
c.3172A>T (p.Arg1058Trp)
c.3025A>T (p.Arg1009Trp)
c.3214A>T (p.Arg1072Trp)
c.3304A>T (p.Arg1102Trp)
c.3265A>T (p.Arg1089Trp)
n.4301A>T
 gnomAD v4
18g.10762502T>CCA401923505PIEZO2c.3247A>G (p.Arg1083Gly)
n.3304A>G
c.3172A>G (p.Arg1058Gly)
c.3025A>G (p.Arg1009Gly)
c.3214A>G (p.Arg1072Gly)
c.3304A>G (p.Arg1102Gly)
c.3265A>G (p.Arg1089Gly)
n.4301A>G
18g.10762502T>GCA502900348PIEZO2c.3247A>C (p.Arg1083=)
n.3304A>C
c.3172A>C (p.Arg1058=)
c.3025A>C (p.Arg1009=)
c.3214A>C (p.Arg1072=)
c.3304A>C (p.Arg1102=)
c.3265A>C (p.Arg1089=)
n.4301A>C
18g.10762503C>ACA502900349PIEZO2c.3246G>T (p.Leu1082=)
n.3303G>T
c.3171G>T (p.Leu1057=)
c.3024G>T (p.Leu1008=)
c.3213G>T (p.Leu1071=)
c.3303G>T (p.Leu1101=)
c.3264G>T (p.Leu1088=)
n.4300G>T
18g.10762503C>GCA502900350PIEZO2c.3246G>C (p.Leu1082=)
n.3303G>C
c.3171G>C (p.Leu1057=)
c.3024G>C (p.Leu1008=)
c.3213G>C (p.Leu1071=)
c.3303G>C (p.Leu1101=)
c.3264G>C (p.Leu1088=)
n.4300G>C
18g.10762503C>TCA502900351PIEZO2c.3246G>A (p.Leu1082=)
n.3303G>A
c.3171G>A (p.Leu1057=)
c.3024G>A (p.Leu1008=)
c.3213G>A (p.Leu1071=)
c.3303G>A (p.Leu1101=)
c.3264G>A (p.Leu1088=)
n.4300G>A
18g.10762504A>CCA401923506PIEZO2c.3245T>G (p.Leu1082Arg)
n.3302T>G
c.3170T>G (p.Leu1057Arg)
c.3023T>G (p.Leu1008Arg)
c.3212T>G (p.Leu1071Arg)
c.3302T>G (p.Leu1101Arg)
c.3263T>G (p.Leu1088Arg)
n.4299T>G
18g.10762504A>GCA401923507PIEZO2c.3245T>C (p.Leu1082Pro)
n.3302T>C
c.3170T>C (p.Leu1057Pro)
c.3023T>C (p.Leu1008Pro)
c.3212T>C (p.Leu1071Pro)
c.3302T>C (p.Leu1101Pro)
c.3263T>C (p.Leu1088Pro)
n.4299T>C
18g.10762504A>TCA401923508PIEZO2c.3245T>A (p.Leu1082Gln)
n.3302T>A
c.3170T>A (p.Leu1057Gln)
c.3023T>A (p.Leu1008Gln)
c.3212T>A (p.Leu1071Gln)
c.3302T>A (p.Leu1101Gln)
c.3263T>A (p.Leu1088Gln)
n.4299T>A
18g.10762505G>ACA502900352PIEZO2c.3244C>T (p.Leu1082=)
n.3301C>T
c.3169C>T (p.Leu1057=)
c.3022C>T (p.Leu1008=)
c.3211C>T (p.Leu1071=)
c.3301C>T (p.Leu1101=)
c.3262C>T (p.Leu1088=)
n.4298C>T
18g.10762505G>CCA401923509PIEZO2c.3244C>G (p.Leu1082Val)
n.3301C>G
c.3169C>G (p.Leu1057Val)
c.3022C>G (p.Leu1008Val)
c.3211C>G (p.Leu1071Val)
c.3301C>G (p.Leu1101Val)
c.3262C>G (p.Leu1088Val)
n.4298C>G
18g.10762505G>TCA401923510PIEZO2c.3244C>A (p.Leu1082Met)
n.3301C>A
c.3169C>A (p.Leu1057Met)
c.3022C>A (p.Leu1008Met)
c.3211C>A (p.Leu1071Met)
c.3301C>A (p.Leu1101Met)
c.3262C>A (p.Leu1088Met)
n.4298C>A
18g.10762506G>ACA502900353PIEZO2c.3243C>T (p.Tyr1081=)
n.3300C>T
c.3168C>T (p.Tyr1056=)
c.3021C>T (p.Tyr1007=)
c.3210C>T (p.Tyr1070=)
c.3300C>T (p.Tyr1100=)
c.3261C>T (p.Tyr1087=)
n.4297C>T
18g.10762506G>CCA401923511PIEZO2c.3243C>G (p.Tyr1081Ter)
n.3300C>G
c.3168C>G (p.Tyr1056Ter)
c.3021C>G (p.Tyr1007Ter)
c.3210C>G (p.Tyr1070Ter)
c.3300C>G (p.Tyr1100Ter)
c.3261C>G (p.Tyr1087Ter)
n.4297C>G
18g.10762506G>TCA401923512PIEZO2c.3243C>A (p.Tyr1081Ter)
n.3300C>A
c.3168C>A (p.Tyr1056Ter)
c.3021C>A (p.Tyr1007Ter)
c.3210C>A (p.Tyr1070Ter)
c.3300C>A (p.Tyr1100Ter)
c.3261C>A (p.Tyr1087Ter)
n.4297C>A
18g.10762507T>ACA401923513PIEZO2c.3242A>T (p.Tyr1081Phe)
n.3299A>T
c.3167A>T (p.Tyr1056Phe)
c.3020A>T (p.Tyr1007Phe)
c.3209A>T (p.Tyr1070Phe)
c.3299A>T (p.Tyr1100Phe)
c.3260A>T (p.Tyr1087Phe)
n.4296A>T
 gnomAD v4
18g.10762507T>CCA401923514PIEZO2c.3242A>G (p.Tyr1081Cys)
n.3299A>G
c.3167A>G (p.Tyr1056Cys)
c.3020A>G (p.Tyr1007Cys)
c.3209A>G (p.Tyr1070Cys)
c.3299A>G (p.Tyr1100Cys)
c.3260A>G (p.Tyr1087Cys)
n.4296A>G
 gnomAD v4
18g.10762507T>GCA401923515PIEZO2c.3242A>C (p.Tyr1081Ser)
n.3299A>C
c.3167A>C (p.Tyr1056Ser)
c.3020A>C (p.Tyr1007Ser)
c.3209A>C (p.Tyr1070Ser)
c.3299A>C (p.Tyr1100Ser)
c.3260A>C (p.Tyr1087Ser)
n.4296A>C
18g.10762508A>CCA401923518PIEZO2c.3241T>G (p.Tyr1081Asp)
n.3298T>G
c.3166T>G (p.Tyr1056Asp)
c.3019T>G (p.Tyr1007Asp)
c.3208T>G (p.Tyr1070Asp)
c.3298T>G (p.Tyr1100Asp)
c.3259T>G (p.Tyr1087Asp)
n.4295T>G
 gnomAD v4
18g.10762508A>GCA401923517PIEZO2c.3241T>C (p.Tyr1081His)
n.3298T>C
c.3166T>C (p.Tyr1056His)
c.3019T>C (p.Tyr1007His)
c.3208T>C (p.Tyr1070His)
c.3298T>C (p.Tyr1100His)
c.3259T>C (p.Tyr1087His)
n.4295T>C
 ClinVar
18g.10762508A>TCA401923516PIEZO2c.3241T>A (p.Tyr1081Asn)
n.3298T>A
c.3166T>A (p.Tyr1056Asn)
c.3019T>A (p.Tyr1007Asn)
c.3208T>A (p.Tyr1070Asn)
c.3298T>A (p.Tyr1100Asn)
c.3259T>A (p.Tyr1087Asn)
n.4295T>A
18g.10762509G>ACA502900355PIEZO2c.3240C>T (p.Val1080=)
n.3297C>T
c.3165C>T (p.Val1055=)
c.3018C>T (p.Val1006=)
c.3207C>T (p.Val1069=)
c.3297C>T (p.Val1099=)
c.3258C>T (p.Val1086=)
n.4294C>T
18g.10762509G>CCA8892573PIEZO2c.3240C>G (p.Val1080=)
n.3297C>G
c.3165C>G (p.Val1055=)
c.3018C>G (p.Val1006=)
c.3207C>G (p.Val1069=)
c.3297C>G (p.Val1099=)
c.3258C>G (p.Val1086=)
n.4294C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.10762509G=CA2284452406PIEZO2c.3240C= (p.Val1080=)
n.3297C=
c.3165C= (p.Val1055=)
c.3018C= (p.Val1006=)
c.3207C= (p.Val1069=)
c.3297C= (p.Val1099=)
c.3258C= (p.Val1086=)
n.4294C=
18g.10762509G>TCA502900356PIEZO2c.3240C>A (p.Val1080=)
n.3297C>A
c.3165C>A (p.Val1055=)
c.3018C>A (p.Val1006=)
c.3207C>A (p.Val1069=)
c.3297C>A (p.Val1099=)
c.3258C>A (p.Val1086=)
n.4294C>A
18g.10762510A>CCA401923519PIEZO2c.3239T>G (p.Val1080Gly)
n.3296T>G
c.3164T>G (p.Val1055Gly)
c.3017T>G (p.Val1006Gly)
c.3206T>G (p.Val1069Gly)
c.3296T>G (p.Val1099Gly)
c.3257T>G (p.Val1086Gly)
n.4293T>G
18g.10762510A>GCA401923520PIEZO2c.3239T>C (p.Val1080Ala)
n.3296T>C
c.3164T>C (p.Val1055Ala)
c.3017T>C (p.Val1006Ala)
c.3206T>C (p.Val1069Ala)
c.3296T>C (p.Val1099Ala)
c.3257T>C (p.Val1086Ala)
n.4293T>C
18g.10762510A>TCA401923521PIEZO2c.3239T>A (p.Val1080Asp)
n.3296T>A
c.3164T>A (p.Val1055Asp)
c.3017T>A (p.Val1006Asp)
c.3206T>A (p.Val1069Asp)
c.3296T>A (p.Val1099Asp)
c.3257T>A (p.Val1086Asp)
n.4293T>A
18g.10762511C>ACA401923522PIEZO2c.3238G>T (p.Val1080Phe)
n.3295G>T
c.3163G>T (p.Val1055Phe)
c.3016G>T (p.Val1006Phe)
c.3205G>T (p.Val1069Phe)
c.3295G>T (p.Val1099Phe)
c.3256G>T (p.Val1086Phe)
n.4292G>T
18g.10762511C=CA2284452407PIEZO2c.3238G= (p.Val1080=)
n.3295G=
c.3163G= (p.Val1055=)
c.3016G= (p.Val1006=)
c.3205G= (p.Val1069=)
c.3295G= (p.Val1099=)
c.3256G= (p.Val1086=)
n.4292G=
18g.10762511C>GCA401923523PIEZO2c.3238G>C (p.Val1080Leu)
n.3295G>C
c.3163G>C (p.Val1055Leu)
c.3016G>C (p.Val1006Leu)
c.3205G>C (p.Val1069Leu)
c.3295G>C (p.Val1099Leu)
c.3256G>C (p.Val1086Leu)
n.4292G>C
 dbSNP gnomAD v4
18g.10762511C>TCA401923524PIEZO2c.3238G>A (p.Val1080Ile)
n.3295G>A
c.3163G>A (p.Val1055Ile)
c.3016G>A (p.Val1006Ile)
c.3205G>A (p.Val1069Ile)
c.3295G>A (p.Val1099Ile)
c.3256G>A (p.Val1086Ile)
n.4292G>A
18g.10762512T>ACA502900358PIEZO2c.3237A>T (p.Leu1079=)
n.3294A>T
c.3162A>T (p.Leu1054=)
c.3015A>T (p.Leu1005=)
c.3204A>T (p.Leu1068=)
c.3294A>T (p.Leu1098=)
c.3255A>T (p.Leu1085=)
n.4291A>T
18g.10762512T>CCA502900359PIEZO2c.3237A>G (p.Leu1079=)
n.3294A>G
c.3162A>G (p.Leu1054=)
c.3015A>G (p.Leu1005=)
c.3204A>G (p.Leu1068=)
c.3294A>G (p.Leu1098=)
c.3255A>G (p.Leu1085=)
n.4291A>G
 gnomAD v4
18g.10762512T>GCA502900360PIEZO2c.3237A>C (p.Leu1079=)
n.3294A>C
c.3162A>C (p.Leu1054=)
c.3015A>C (p.Leu1005=)
c.3204A>C (p.Leu1068=)
c.3294A>C (p.Leu1098=)
c.3255A>C (p.Leu1085=)
n.4291A>C
18g.10762513A=CA2284452408PIEZO2c.3236T= (p.Leu1079=)
n.3293T=
c.3161T= (p.Leu1054=)
c.3014T= (p.Leu1005=)
c.3203T= (p.Leu1068=)
c.3293T= (p.Leu1098=)
c.3254T= (p.Leu1085=)
n.4290T=
18g.10762513A>CCA296032290PIEZO2c.3236T>G (p.Leu1079Arg)
n.3293T>G
c.3161T>G (p.Leu1054Arg)
c.3014T>G (p.Leu1005Arg)
c.3203T>G (p.Leu1068Arg)
c.3293T>G (p.Leu1098Arg)
c.3254T>G (p.Leu1085Arg)
n.4290T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10762513A>GCA401923525PIEZO2c.3236T>C (p.Leu1079Pro)
n.3293T>C
c.3161T>C (p.Leu1054Pro)
c.3014T>C (p.Leu1005Pro)
c.3203T>C (p.Leu1068Pro)
c.3293T>C (p.Leu1098Pro)
c.3254T>C (p.Leu1085Pro)
n.4290T>C
18g.10762513A>TCA401923526PIEZO2c.3236T>A (p.Leu1079Gln)
n.3293T>A
c.3161T>A (p.Leu1054Gln)
c.3014T>A (p.Leu1005Gln)
c.3203T>A (p.Leu1068Gln)
c.3293T>A (p.Leu1098Gln)
c.3254T>A (p.Leu1085Gln)
n.4290T>A
18g.10762514G>ACA502900361PIEZO2c.3235C>T (p.Leu1079=)
n.3292C>T
c.3160C>T (p.Leu1054=)
c.3013C>T (p.Leu1005=)
c.3202C>T (p.Leu1068=)
c.3292C>T (p.Leu1098=)
c.3253C>T (p.Leu1085=)
n.4289C>T
18g.10762514G>CCA401923527PIEZO2c.3235C>G (p.Leu1079Val)
n.3292C>G
c.3160C>G (p.Leu1054Val)
c.3013C>G (p.Leu1005Val)
c.3202C>G (p.Leu1068Val)
c.3292C>G (p.Leu1098Val)
c.3253C>G (p.Leu1085Val)
n.4289C>G
18g.10762514G>TCA401923528PIEZO2c.3235C>A (p.Leu1079Ile)
n.3292C>A
c.3160C>A (p.Leu1054Ile)
c.3013C>A (p.Leu1005Ile)
c.3202C>A (p.Leu1068Ile)
c.3292C>A (p.Leu1098Ile)
c.3253C>A (p.Leu1085Ile)
n.4289C>A
18g.10762515C>ACA502900364PIEZO2c.3234G>T (p.Leu1078=)
n.3291G>T
c.3159G>T (p.Leu1053=)
c.3012G>T (p.Leu1004=)
c.3201G>T (p.Leu1067=)
c.3291G>T (p.Leu1097=)
c.3252G>T (p.Leu1084=)
n.4288G>T
18g.10762515C=CA2284452409PIEZO2c.3234G= (p.Leu1078=)
n.3291G=
c.3159G= (p.Leu1053=)
c.3012G= (p.Leu1004=)
c.3201G= (p.Leu1067=)
c.3291G= (p.Leu1097=)
c.3252G= (p.Leu1084=)
n.4288G=
18g.10762515C>GCA502900362PIEZO2c.3234G>C (p.Leu1078=)
n.3291G>C
c.3159G>C (p.Leu1053=)
c.3012G>C (p.Leu1004=)
c.3201G>C (p.Leu1067=)
c.3291G>C (p.Leu1097=)
c.3252G>C (p.Leu1084=)
n.4288G>C
 dbSNP gnomAD v3 gnomAD v4
18g.10762515C>TCA502900363PIEZO2c.3234G>A (p.Leu1078=)
n.3291G>A
c.3159G>A (p.Leu1053=)
c.3012G>A (p.Leu1004=)
c.3201G>A (p.Leu1067=)
c.3291G>A (p.Leu1097=)
c.3252G>A (p.Leu1084=)
n.4288G>A
18g.10762516A>CCA401923529PIEZO2c.3233T>G (p.Leu1078Arg)
n.3290T>G
c.3158T>G (p.Leu1053Arg)
c.3011T>G (p.Leu1004Arg)
c.3200T>G (p.Leu1067Arg)
c.3290T>G (p.Leu1097Arg)
c.3251T>G (p.Leu1084Arg)
n.4287T>G
18g.10762516A>GCA401923530PIEZO2c.3233T>C (p.Leu1078Pro)
n.3290T>C
c.3158T>C (p.Leu1053Pro)
c.3011T>C (p.Leu1004Pro)
c.3200T>C (p.Leu1067Pro)
c.3290T>C (p.Leu1097Pro)
c.3251T>C (p.Leu1084Pro)
n.4287T>C
18g.10762516A>TCA401923531PIEZO2c.3233T>A (p.Leu1078Gln)
n.3290T>A
c.3158T>A (p.Leu1053Gln)
c.3011T>A (p.Leu1004Gln)
c.3200T>A (p.Leu1067Gln)
c.3290T>A (p.Leu1097Gln)
c.3251T>A (p.Leu1084Gln)
n.4287T>A
18g.10762517G>ACA502900365PIEZO2c.3232C>T (p.Leu1078=)
n.3289C>T
c.3157C>T (p.Leu1053=)
c.3010C>T (p.Leu1004=)
c.3199C>T (p.Leu1067=)
c.3289C>T (p.Leu1097=)
c.3250C>T (p.Leu1084=)
n.4286C>T
 gnomAD v4
18g.10762517G>CCA401923532PIEZO2c.3232C>G (p.Leu1078Val)
n.3289C>G
c.3157C>G (p.Leu1053Val)
c.3010C>G (p.Leu1004Val)
c.3199C>G (p.Leu1067Val)
c.3289C>G (p.Leu1097Val)
c.3250C>G (p.Leu1084Val)
n.4286C>G
 gnomAD v4
18g.10762517G>TCA401923533PIEZO2c.3232C>A (p.Leu1078Met)
n.3289C>A
c.3157C>A (p.Leu1053Met)
c.3010C>A (p.Leu1004Met)
c.3199C>A (p.Leu1067Met)
c.3289C>A (p.Leu1097Met)
c.3250C>A (p.Leu1084Met)
n.4286C>A
18g.10762518A=CA2284452410PIEZO2c.3231T= (p.Pro1077=)
n.3288T=
c.3156T= (p.Pro1052=)
c.3009T= (p.Pro1003=)
c.3198T= (p.Pro1066=)
c.3288T= (p.Pro1096=)
c.3249T= (p.Pro1083=)
n.4285T=
18g.10762518A>CCA502900366PIEZO2c.3231T>G (p.Pro1077=)
n.3288T>G
c.3156T>G (p.Pro1052=)
c.3009T>G (p.Pro1003=)
c.3198T>G (p.Pro1066=)
c.3288T>G (p.Pro1096=)
c.3249T>G (p.Pro1083=)
n.4285T>G
18g.10762518A>GCA502900367PIEZO2c.3231T>C (p.Pro1077=)
n.3288T>C
c.3156T>C (p.Pro1052=)
c.3009T>C (p.Pro1003=)
c.3198T>C (p.Pro1066=)
c.3288T>C (p.Pro1096=)
c.3249T>C (p.Pro1083=)
n.4285T>C
 dbSNP gnomAD v2 gnomAD v4
18g.10762518A>TCA502900368PIEZO2c.3231T>A (p.Pro1077=)
n.3288T>A
c.3156T>A (p.Pro1052=)
c.3009T>A (p.Pro1003=)
c.3198T>A (p.Pro1066=)
c.3288T>A (p.Pro1096=)
c.3249T>A (p.Pro1083=)
n.4285T>A
18g.10762519G>ACA401923534PIEZO2c.3230C>T (p.Pro1077Leu)
n.3287C>T
c.3155C>T (p.Pro1052Leu)
c.3008C>T (p.Pro1003Leu)
c.3197C>T (p.Pro1066Leu)
c.3287C>T (p.Pro1096Leu)
c.3248C>T (p.Pro1083Leu)
n.4284C>T
 gnomAD v4
18g.10762519G>CCA401923535PIEZO2c.3230C>G (p.Pro1077Arg)
n.3287C>G
c.3155C>G (p.Pro1052Arg)
c.3008C>G (p.Pro1003Arg)
c.3197C>G (p.Pro1066Arg)
c.3287C>G (p.Pro1096Arg)
c.3248C>G (p.Pro1083Arg)
n.4284C>G
18g.10762519G>TCA401923536PIEZO2c.3230C>A (p.Pro1077His)
n.3287C>A
c.3155C>A (p.Pro1052His)
c.3008C>A (p.Pro1003His)
c.3197C>A (p.Pro1066His)
c.3287C>A (p.Pro1096His)
c.3248C>A (p.Pro1083His)
n.4284C>A
18g.10762520G>ACA401923537PIEZO2c.3229C>T (p.Pro1077Ser)
n.3286C>T
c.3154C>T (p.Pro1052Ser)
c.3007C>T (p.Pro1003Ser)
c.3196C>T (p.Pro1066Ser)
c.3286C>T (p.Pro1096Ser)
c.3247C>T (p.Pro1083Ser)
n.4283C>T
18g.10762520G>CCA401923538PIEZO2c.3229C>G (p.Pro1077Ala)
n.3286C>G
c.3154C>G (p.Pro1052Ala)
c.3007C>G (p.Pro1003Ala)
c.3196C>G (p.Pro1066Ala)
c.3286C>G (p.Pro1096Ala)
c.3247C>G (p.Pro1083Ala)
n.4283C>G
 dbSNP gnomAD v3 gnomAD v4
18g.10762520G=CA2284452411PIEZO2c.3229C= (p.Pro1077=)
n.3286C=
c.3154C= (p.Pro1052=)
c.3007C= (p.Pro1003=)
c.3196C= (p.Pro1066=)
c.3286C= (p.Pro1096=)
c.3247C= (p.Pro1083=)
n.4283C=
18g.10762520G>TCA401923539PIEZO2c.3229C>A (p.Pro1077Thr)
n.3286C>A
c.3154C>A (p.Pro1052Thr)
c.3007C>A (p.Pro1003Thr)
c.3196C>A (p.Pro1066Thr)
c.3286C>A (p.Pro1096Thr)
c.3247C>A (p.Pro1083Thr)
n.4283C>A
18g.10762521C>ACA502900370PIEZO2c.3228G>T (p.Ser1076=)
n.3285G>T
c.3153G>T (p.Ser1051=)
c.3006G>T (p.Ser1002=)
c.3195G>T (p.Ser1065=)
c.3285G>T (p.Ser1095=)
c.3246G>T (p.Ser1082=)
n.4282G>T
 gnomAD v4 COSMIC
18g.10762521C=CA2284452412PIEZO2c.3228G= (p.Ser1076=)
n.3285G=
c.3153G= (p.Ser1051=)
c.3006G= (p.Ser1002=)
c.3195G= (p.Ser1065=)
c.3285G= (p.Ser1095=)
c.3246G= (p.Ser1082=)
n.4282G=
18g.10762521C>GCA502900369PIEZO2c.3228G>C (p.Ser1076=)
n.3285G>C
c.3153G>C (p.Ser1051=)
c.3006G>C (p.Ser1002=)
c.3195G>C (p.Ser1065=)
c.3285G>C (p.Ser1095=)
c.3246G>C (p.Ser1082=)
n.4282G>C
18g.10762521C>TCA8892574PIEZO2c.3228G>A (p.Ser1076=)
n.3285G>A
c.3153G>A (p.Ser1051=)
c.3006G>A (p.Ser1002=)
c.3195G>A (p.Ser1065=)
c.3285G>A (p.Ser1095=)
c.3246G>A (p.Ser1082=)
n.4282G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.10762522G>ACA8892575PIEZO2c.3227C>T (p.Ser1076Leu)
n.3284C>T
c.3152C>T (p.Ser1051Leu)
c.3005C>T (p.Ser1002Leu)
c.3194C>T (p.Ser1065Leu)
c.3284C>T (p.Ser1095Leu)
c.3245C>T (p.Ser1082Leu)
n.4281C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.10762522G>CCA401923540PIEZO2c.3227C>G (p.Ser1076Trp)
n.3284C>G
c.3152C>G (p.Ser1051Trp)
c.3005C>G (p.Ser1002Trp)
c.3194C>G (p.Ser1065Trp)
c.3284C>G (p.Ser1095Trp)
c.3245C>G (p.Ser1082Trp)
n.4281C>G
18g.10762522G=CA2284452413PIEZO2c.3227C= (p.Ser1076=)
n.3284C=
c.3152C= (p.Ser1051=)
c.3005C= (p.Ser1002=)
c.3194C= (p.Ser1065=)
c.3284C= (p.Ser1095=)
c.3245C= (p.Ser1082=)
n.4281C=
18g.10762522G>TCA401923541PIEZO2c.3227C>A (p.Ser1076Ter)
n.3284C>A
c.3152C>A (p.Ser1051Ter)
c.3005C>A (p.Ser1002Ter)
c.3194C>A (p.Ser1065Ter)
c.3284C>A (p.Ser1095Ter)
c.3245C>A (p.Ser1082Ter)
n.4281C>A
18g.10762523A>CCA401923542PIEZO2c.3226T>G (p.Ser1076Ala)
n.3283T>G
c.3151T>G (p.Ser1051Ala)
c.3004T>G (p.Ser1002Ala)
c.3193T>G (p.Ser1065Ala)
c.3283T>G (p.Ser1095Ala)
c.3244T>G (p.Ser1082Ala)
n.4280T>G
18g.10762523A>GCA401923543PIEZO2c.3226T>C (p.Ser1076Pro)
n.3283T>C
c.3151T>C (p.Ser1051Pro)
c.3004T>C (p.Ser1002Pro)
c.3193T>C (p.Ser1065Pro)
c.3283T>C (p.Ser1095Pro)
c.3244T>C (p.Ser1082Pro)
n.4280T>C
18g.10762523A>TCA401923544PIEZO2c.3226T>A (p.Ser1076Thr)
n.3283T>A
c.3151T>A (p.Ser1051Thr)
c.3004T>A (p.Ser1002Thr)
c.3193T>A (p.Ser1065Thr)
c.3283T>A (p.Ser1095Thr)
c.3244T>A (p.Ser1082Thr)
n.4280T>A
18g.10762524A>CCA502900373PIEZO2c.3225T>G (p.Ser1075=)
n.3282T>G
c.3150T>G (p.Ser1050=)
c.3003T>G (p.Ser1001=)
c.3192T>G (p.Ser1064=)
c.3282T>G (p.Ser1094=)
c.3243T>G (p.Ser1081=)
n.4279T>G
18g.10762524A>GCA502900374PIEZO2c.3225T>C (p.Ser1075=)
n.3282T>C
c.3150T>C (p.Ser1050=)
c.3003T>C (p.Ser1001=)
c.3192T>C (p.Ser1064=)
c.3282T>C (p.Ser1094=)
c.3243T>C (p.Ser1081=)
n.4279T>C
 gnomAD v4
18g.10762524A>TCA502900375PIEZO2c.3225T>A (p.Ser1075=)
n.3282T>A
c.3150T>A (p.Ser1050=)
c.3003T>A (p.Ser1001=)
c.3192T>A (p.Ser1064=)
c.3282T>A (p.Ser1094=)
c.3243T>A (p.Ser1081=)
n.4279T>A
18g.10762525G>ACA401923546PIEZO2c.3224C>T (p.Ser1075Phe)
n.3281C>T
c.3149C>T (p.Ser1050Phe)
c.3002C>T (p.Ser1001Phe)
c.3191C>T (p.Ser1064Phe)
c.3281C>T (p.Ser1094Phe)
c.3242C>T (p.Ser1081Phe)
n.4278C>T
 gnomAD v4
18g.10762525G>CCA401923547PIEZO2c.3224C>G (p.Ser1075Cys)
n.3281C>G
c.3149C>G (p.Ser1050Cys)
c.3002C>G (p.Ser1001Cys)
c.3191C>G (p.Ser1064Cys)
c.3281C>G (p.Ser1094Cys)
c.3242C>G (p.Ser1081Cys)
n.4278C>G
 gnomAD v4
18g.10762525G>TCA401923545PIEZO2c.3224C>A (p.Ser1075Tyr)
n.3281C>A
c.3149C>A (p.Ser1050Tyr)
c.3002C>A (p.Ser1001Tyr)
c.3191C>A (p.Ser1064Tyr)
c.3281C>A (p.Ser1094Tyr)
c.3242C>A (p.Ser1081Tyr)
n.4278C>A
18g.10762526A=CA2284452414PIEZO2c.3223T= (p.Ser1075=)
n.3280T=
c.3148T= (p.Ser1050=)
c.3001T= (p.Ser1001=)
c.3190T= (p.Ser1064=)
c.3280T= (p.Ser1094=)
c.3241T= (p.Ser1081=)
n.4277T=
18g.10762526A>CCA401923548PIEZO2c.3223T>G (p.Ser1075Ala)
n.3280T>G
c.3148T>G (p.Ser1050Ala)
c.3001T>G (p.Ser1001Ala)
c.3190T>G (p.Ser1064Ala)
c.3280T>G (p.Ser1094Ala)
c.3241T>G (p.Ser1081Ala)
n.4277T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10762526A>GCA401923549PIEZO2c.3223T>C (p.Ser1075Pro)
n.3280T>C
c.3148T>C (p.Ser1050Pro)
c.3001T>C (p.Ser1001Pro)
c.3190T>C (p.Ser1064Pro)
c.3280T>C (p.Ser1094Pro)
c.3241T>C (p.Ser1081Pro)
n.4277T>C
18g.10762526A>TCA401923550PIEZO2c.3223T>A (p.Ser1075Thr)
n.3280T>A
c.3148T>A (p.Ser1050Thr)
c.3001T>A (p.Ser1001Thr)
c.3190T>A (p.Ser1064Thr)
c.3280T>A (p.Ser1094Thr)
c.3241T>A (p.Ser1081Thr)
n.4277T>A
18g.10762527C>ACA401923551PIEZO2c.3222G>T (p.Lys1074Asn)
n.3279G>T
c.3147G>T (p.Lys1049Asn)
c.3000G>T (p.Lys1000Asn)
c.3189G>T (p.Lys1063Asn)
c.3279G>T (p.Lys1093Asn)
c.3240G>T (p.Lys1080Asn)
n.4276G>T
18g.10762527C>GCA401923552PIEZO2c.3222G>C (p.Lys1074Asn)
n.3279G>C
c.3147G>C (p.Lys1049Asn)
c.3000G>C (p.Lys1000Asn)
c.3189G>C (p.Lys1063Asn)
c.3279G>C (p.Lys1093Asn)
c.3240G>C (p.Lys1080Asn)
n.4276G>C
18g.10762527C>TCA502900376PIEZO2c.3222G>A (p.Lys1074=)
n.3279G>A
c.3147G>A (p.Lys1049=)
c.3000G>A (p.Lys1000=)
c.3189G>A (p.Lys1063=)
c.3279G>A (p.Lys1093=)
c.3240G>A (p.Lys1080=)
n.4276G>A
18g.10762528T>ACA401923553PIEZO2c.3221A>T (p.Lys1074Met)
n.3278A>T
c.3146A>T (p.Lys1049Met)
c.2999A>T (p.Lys1000Met)
c.3188A>T (p.Lys1063Met)
c.3278A>T (p.Lys1093Met)
c.3239A>T (p.Lys1080Met)
n.4275A>T
18g.10762528T>CCA401923554PIEZO2c.3221A>G (p.Lys1074Arg)
n.3278A>G
c.3146A>G (p.Lys1049Arg)
c.2999A>G (p.Lys1000Arg)
c.3188A>G (p.Lys1063Arg)
c.3278A>G (p.Lys1093Arg)
c.3239A>G (p.Lys1080Arg)
n.4275A>G
18g.10762528T>GCA401923555PIEZO2c.3221A>C (p.Lys1074Thr)
n.3278A>C
c.3146A>C (p.Lys1049Thr)
c.2999A>C (p.Lys1000Thr)
c.3188A>C (p.Lys1063Thr)
c.3278A>C (p.Lys1093Thr)
c.3239A>C (p.Lys1080Thr)
n.4275A>C
18g.10762529T>ACA401923556PIEZO2c.3220A>T (p.Lys1074Ter)
n.3277A>T
c.3145A>T (p.Lys1049Ter)
c.2998A>T (p.Lys1000Ter)
c.3187A>T (p.Lys1063Ter)
c.3277A>T (p.Lys1093Ter)
c.3238A>T (p.Lys1080Ter)
n.4274A>T
18g.10762529T>CCA401923557PIEZO2c.3220A>G (p.Lys1074Glu)
n.3277A>G
c.3145A>G (p.Lys1049Glu)
c.2998A>G (p.Lys1000Glu)
c.3187A>G (p.Lys1063Glu)
c.3277A>G (p.Lys1093Glu)
c.3238A>G (p.Lys1080Glu)
n.4274A>G
 gnomAD v4
18g.10762529T>GCA401923558PIEZO2c.3220A>C (p.Lys1074Gln)
n.3277A>C
c.3145A>C (p.Lys1049Gln)
c.2998A>C (p.Lys1000Gln)
c.3187A>C (p.Lys1063Gln)
c.3277A>C (p.Lys1093Gln)
c.3238A>C (p.Lys1080Gln)
n.4274A>C
18g.10762530C>ACA502900377PIEZO2c.3219G>T (p.Arg1073=)
n.3276G>T
c.3144G>T (p.Arg1048=)
c.2997G>T (p.Arg999=)
c.3186G>T (p.Arg1062=)
c.3276G>T (p.Arg1092=)
c.3237G>T (p.Arg1079=)
n.4273G>T
18g.10762530C=CA2284452415PIEZO2c.3219G= (p.Arg1073=)
n.3276G=
c.3144G= (p.Arg1048=)
c.2997G= (p.Arg999=)
c.3186G= (p.Arg1062=)
c.3276G= (p.Arg1092=)
c.3237G= (p.Arg1079=)
n.4273G=
18g.10762530C>GCA502900378PIEZO2c.3219G>C (p.Arg1073=)
n.3276G>C
c.3144G>C (p.Arg1048=)
c.2997G>C (p.Arg999=)
c.3186G>C (p.Arg1062=)
c.3276G>C (p.Arg1092=)
c.3237G>C (p.Arg1079=)
n.4273G>C
18g.10762530C>TCA502900379PIEZO2c.3219G>A (p.Arg1073=)
n.3276G>A
c.3144G>A (p.Arg1048=)
c.2997G>A (p.Arg999=)
c.3186G>A (p.Arg1062=)
c.3276G>A (p.Arg1092=)
c.3237G>A (p.Arg1079=)
n.4273G>A
 dbSNP gnomAD v3 gnomAD v4
18g.10762531C>ACA401923559PIEZO2c.3218G>T (p.Arg1073Leu)
n.3275G>T
c.3143G>T (p.Arg1048Leu)
c.2996G>T (p.Arg999Leu)
c.3185G>T (p.Arg1062Leu)
c.3275G>T (p.Arg1092Leu)
c.3236G>T (p.Arg1079Leu)
n.4272G>T
18g.10762531C=CA2284452416PIEZO2c.3218G= (p.Arg1073=)
n.3275G=
c.3143G= (p.Arg1048=)
c.2996G= (p.Arg999=)
c.3185G= (p.Arg1062=)
c.3275G= (p.Arg1092=)
c.3236G= (p.Arg1079=)
n.4272G=
18g.10762531C>GCA401923560PIEZO2c.3218G>C (p.Arg1073Pro)
n.3275G>C
c.3143G>C (p.Arg1048Pro)
c.2996G>C (p.Arg999Pro)
c.3185G>C (p.Arg1062Pro)
c.3275G>C (p.Arg1092Pro)
c.3236G>C (p.Arg1079Pro)
n.4272G>C
18g.10762531C>TCA401923561PIEZO2c.3218G>A (p.Arg1073Gln)
n.3275G>A
c.3143G>A (p.Arg1048Gln)
c.2996G>A (p.Arg999Gln)
c.3185G>A (p.Arg1062Gln)
c.3275G>A (p.Arg1092Gln)
c.3236G>A (p.Arg1079Gln)
n.4272G>A
 dbSNP gnomAD v2 gnomAD v4
18g.10762532G>ACA296032301PIEZO2c.3217C>T (p.Arg1073Trp)
n.3274C>T
c.3142C>T (p.Arg1048Trp)
c.2995C>T (p.Arg999Trp)
c.3184C>T (p.Arg1062Trp)
c.3274C>T (p.Arg1092Trp)
c.3235C>T (p.Arg1079Trp)
n.4271C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.10762532G>CCA401923562PIEZO2c.3217C>G (p.Arg1073Gly)
n.3274C>G
c.3142C>G (p.Arg1048Gly)
c.2995C>G (p.Arg999Gly)
c.3184C>G (p.Arg1062Gly)
c.3274C>G (p.Arg1092Gly)
c.3235C>G (p.Arg1079Gly)
n.4271C>G
18g.10762532G=CA2284452417PIEZO2c.3217C= (p.Arg1073=)
n.3274C=
c.3142C= (p.Arg1048=)
c.2995C= (p.Arg999=)
c.3184C= (p.Arg1062=)
c.3274C= (p.Arg1092=)
c.3235C= (p.Arg1079=)
n.4271C=
18g.10762532G>TCA502900380PIEZO2c.3217C>A (p.Arg1073=)
n.3274C>A
c.3142C>A (p.Arg1048=)
c.2995C>A (p.Arg999=)
c.3184C>A (p.Arg1062=)
c.3274C>A (p.Arg1092=)
c.3235C>A (p.Arg1079=)
n.4271C>A
18g.10762533C>ACA502900383PIEZO2c.3216G>T (p.Leu1072=)
n.3273G>T
c.3141G>T (p.Leu1047=)
c.2994G>T (p.Leu998=)
c.3183G>T (p.Leu1061=)
c.3273G>T (p.Leu1091=)
c.3234G>T (p.Leu1078=)
n.4270G>T
18g.10762533C>GCA502900382PIEZO2c.3216G>C (p.Leu1072=)
n.3273G>C
c.3141G>C (p.Leu1047=)
c.2994G>C (p.Leu998=)
c.3183G>C (p.Leu1061=)
c.3273G>C (p.Leu1091=)
c.3234G>C (p.Leu1078=)
n.4270G>C
18g.10762533C>TCA502900381PIEZO2c.3216G>A (p.Leu1072=)
n.3273G>A
c.3141G>A (p.Leu1047=)
c.2994G>A (p.Leu998=)
c.3183G>A (p.Leu1061=)
c.3273G>A (p.Leu1091=)
c.3234G>A (p.Leu1078=)
n.4270G>A
 gnomAD v4
18g.10762534A=CA2284452418PIEZO2c.3215T= (p.Leu1072=)
n.3272T=
c.3140T= (p.Leu1047=)
c.2993T= (p.Leu998=)
c.3182T= (p.Leu1061=)
c.3272T= (p.Leu1091=)
c.3233T= (p.Leu1078=)
n.4269T=
18g.10762534A>CCA401923563PIEZO2c.3215T>G (p.Leu1072Arg)
n.3272T>G
c.3140T>G (p.Leu1047Arg)
c.2993T>G (p.Leu998Arg)
c.3182T>G (p.Leu1061Arg)
c.3272T>G (p.Leu1091Arg)
c.3233T>G (p.Leu1078Arg)
n.4269T>G
18g.10762534A>GCA401923564PIEZO2c.3215T>C (p.Leu1072Pro)
n.3272T>C
c.3140T>C (p.Leu1047Pro)
c.2993T>C (p.Leu998Pro)
c.3182T>C (p.Leu1061Pro)
c.3272T>C (p.Leu1091Pro)
c.3233T>C (p.Leu1078Pro)
n.4269T>C
 dbSNP gnomAD v3 gnomAD v4
18g.10762534A>TCA401923565PIEZO2c.3215T>A (p.Leu1072Gln)
n.3272T>A
c.3140T>A (p.Leu1047Gln)
c.2993T>A (p.Leu998Gln)
c.3182T>A (p.Leu1061Gln)
c.3272T>A (p.Leu1091Gln)
c.3233T>A (p.Leu1078Gln)
n.4269T>A
18g.10762535G>ACA502900384PIEZO2c.3214C>T (p.Leu1072=)
n.3271C>T
c.3139C>T (p.Leu1047=)
c.2992C>T (p.Leu998=)
c.3181C>T (p.Leu1061=)
c.3271C>T (p.Leu1091=)
c.3232C>T (p.Leu1078=)
n.4268C>T
 dbSNP gnomAD v2 gnomAD v4
18g.10762535G>CCA401923566PIEZO2c.3214C>G (p.Leu1072Val)
n.3271C>G
c.3139C>G (p.Leu1047Val)
c.2992C>G (p.Leu998Val)
c.3181C>G (p.Leu1061Val)
c.3271C>G (p.Leu1091Val)
c.3232C>G (p.Leu1078Val)
n.4268C>G
18g.10762535G=CA2284452419PIEZO2c.3214C= (p.Leu1072=)
n.3271C=
c.3139C= (p.Leu1047=)
c.2992C= (p.Leu998=)
c.3181C= (p.Leu1061=)
c.3271C= (p.Leu1091=)
c.3232C= (p.Leu1078=)
n.4268C=
18g.10762535G>TCA401923567PIEZO2c.3214C>A (p.Leu1072Met)
n.3271C>A
c.3139C>A (p.Leu1047Met)
c.2992C>A (p.Leu998Met)
c.3181C>A (p.Leu1061Met)
c.3271C>A (p.Leu1091Met)
c.3232C>A (p.Leu1078Met)
n.4268C>A
18g.10762536G>ACA502900387PIEZO2c.3213C>T (p.Gly1071=)
n.3270C>T
c.3138C>T (p.Gly1046=)
c.2991C>T (p.Gly997=)
c.3180C>T (p.Gly1060=)
c.3270C>T (p.Gly1090=)
c.3231C>T (p.Gly1077=)
n.4267C>T
 gnomAD v4
18g.10762536G>CCA502900386PIEZO2c.3213C>G (p.Gly1071=)
n.3270C>G
c.3138C>G (p.Gly1046=)
c.2991C>G (p.Gly997=)
c.3180C>G (p.Gly1060=)
c.3270C>G (p.Gly1090=)
c.3231C>G (p.Gly1077=)
n.4267C>G
18g.10762536G>TCA502900385PIEZO2c.3213C>A (p.Gly1071=)
n.3270C>A
c.3138C>A (p.Gly1046=)
c.2991C>A (p.Gly997=)
c.3180C>A (p.Gly1060=)
c.3270C>A (p.Gly1090=)
c.3231C>A (p.Gly1077=)
n.4267C>A
18g.10762537C>ACA401923569PIEZO2c.3212G>T (p.Gly1071Val)
n.3269G>T
c.3137G>T (p.Gly1046Val)
c.2990G>T (p.Gly997Val)
c.3179G>T (p.Gly1060Val)
c.3269G>T (p.Gly1090Val)
c.3230G>T (p.Gly1077Val)
n.4266G>T
18g.10762537C=CA2284452420PIEZO2c.3212G= (p.Gly1071=)
n.3269G=
c.3137G= (p.Gly1046=)
c.2990G= (p.Gly997=)
c.3179G= (p.Gly1060=)
c.3269G= (p.Gly1090=)
c.3230G= (p.Gly1077=)
n.4266G=
18g.10762537C>GCA401923568PIEZO2c.3212G>C (p.Gly1071Ala)
n.3269G>C
c.3137G>C (p.Gly1046Ala)
c.2990G>C (p.Gly997Ala)
c.3179G>C (p.Gly1060Ala)
c.3269G>C (p.Gly1090Ala)
c.3230G>C (p.Gly1077Ala)
n.4266G>C
18g.10762537C>TCA296032304PIEZO2c.3212G>A (p.Gly1071Asp)
n.3269G>A
c.3137G>A (p.Gly1046Asp)
c.2990G>A (p.Gly997Asp)
c.3179G>A (p.Gly1060Asp)
c.3269G>A (p.Gly1090Asp)
c.3230G>A (p.Gly1077Asp)
n.4266G>A
 dbSNP gnomAD v4
18g.10762538C>ACA401923570PIEZO2c.3211G>T (p.Gly1071Cys)
n.3268G>T
c.3136G>T (p.Gly1046Cys)
c.2989G>T (p.Gly997Cys)
c.3178G>T (p.Gly1060Cys)
c.3268G>T (p.Gly1090Cys)
c.3229G>T (p.Gly1077Cys)
n.4265G>T
18g.10762538C=CA2284452421PIEZO2c.3211G= (p.Gly1071=)
n.3268G=
c.3136G= (p.Gly1046=)
c.2989G= (p.Gly997=)
c.3178G= (p.Gly1060=)
c.3268G= (p.Gly1090=)
c.3229G= (p.Gly1077=)
n.4265G=
18g.10762538C>GCA401923571PIEZO2c.3211G>C (p.Gly1071Arg)
n.3268G>C
c.3136G>C (p.Gly1046Arg)
c.2989G>C (p.Gly997Arg)
c.3178G>C (p.Gly1060Arg)
c.3268G>C (p.Gly1090Arg)
c.3229G>C (p.Gly1077Arg)
n.4265G>C
18g.10762538C>TCA401923572PIEZO2c.3211G>A (p.Gly1071Ser)
n.3268G>A
c.3136G>A (p.Gly1046Ser)
c.2989G>A (p.Gly997Ser)
c.3178G>A (p.Gly1060Ser)
c.3268G>A (p.Gly1090Ser)
c.3229G>A (p.Gly1077Ser)
n.4265G>A
 dbSNP gnomAD v2 gnomAD v4
18g.10762539G>ACA502900388PIEZO2c.3210C>T (p.Val1070=)
n.3267C>T
c.3135C>T (p.Val1045=)
c.2988C>T (p.Val996=)
c.3177C>T (p.Val1059=)
c.3267C>T (p.Val1089=)
c.3228C>T (p.Val1076=)
n.4264C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.10762539G>CCA502900390PIEZO2c.3210C>G (p.Val1070=)
n.3267C>G
c.3135C>G (p.Val1045=)
c.2988C>G (p.Val996=)
c.3177C>G (p.Val1059=)
c.3267C>G (p.Val1089=)
c.3228C>G (p.Val1076=)
n.4264C>G
18g.10762539G=CA2284452422PIEZO2c.3210C= (p.Val1070=)
n.3267C=
c.3135C= (p.Val1045=)
c.2988C= (p.Val996=)
c.3177C= (p.Val1059=)
c.3267C= (p.Val1089=)
c.3228C= (p.Val1076=)
n.4264C=
18g.10762539G>TCA502900389PIEZO2c.3210C>A (p.Val1070=)
n.3267C>A
c.3135C>A (p.Val1045=)
c.2988C>A (p.Val996=)
c.3177C>A (p.Val1059=)
c.3267C>A (p.Val1089=)
c.3228C>A (p.Val1076=)
n.4264C>A
 gnomAD v4
18g.10762540A>CCA401923573PIEZO2c.3209T>G (p.Val1070Gly)
n.3266T>G
c.3134T>G (p.Val1045Gly)
c.2987T>G (p.Val996Gly)
c.3176T>G (p.Val1059Gly)
c.3266T>G (p.Val1089Gly)
c.3227T>G (p.Val1076Gly)
n.4263T>G
18g.10762540A>GCA401923574PIEZO2c.3209T>C (p.Val1070Ala)
n.3266T>C
c.3134T>C (p.Val1045Ala)
c.2987T>C (p.Val996Ala)
c.3176T>C (p.Val1059Ala)
c.3266T>C (p.Val1089Ala)
c.3227T>C (p.Val1076Ala)
n.4263T>C
18g.10762540A>TCA401923575PIEZO2c.3209T>A (p.Val1070Asp)
n.3266T>A
c.3134T>A (p.Val1045Asp)
c.2987T>A (p.Val996Asp)
c.3176T>A (p.Val1059Asp)
c.3266T>A (p.Val1089Asp)
c.3227T>A (p.Val1076Asp)
n.4263T>A
18g.10762541C>ACA401923576PIEZO2c.3208G>T (p.Val1070Phe)
n.3265G>T
c.3133G>T (p.Val1045Phe)
c.2986G>T (p.Val996Phe)
c.3175G>T (p.Val1059Phe)
c.3265G>T (p.Val1089Phe)
c.3226G>T (p.Val1076Phe)
n.4262G>T
18g.10762541C=CA2284452423PIEZO2c.3208G= (p.Val1070=)
n.3265G=
c.3133G= (p.Val1045=)
c.2986G= (p.Val996=)
c.3175G= (p.Val1059=)
c.3265G= (p.Val1089=)
c.3226G= (p.Val1076=)
n.4262G=
18g.10762541C>GCA401923578PIEZO2c.3208G>C (p.Val1070Leu)
n.3265G>C
c.3133G>C (p.Val1045Leu)
c.2986G>C (p.Val996Leu)
c.3175G>C (p.Val1059Leu)
c.3265G>C (p.Val1089Leu)
c.3226G>C (p.Val1076Leu)
n.4262G>C
18g.10762541C>TCA401923577PIEZO2c.3208G>A (p.Val1070Ile)
n.3265G>A
c.3133G>A (p.Val1045Ile)
c.2986G>A (p.Val996Ile)
c.3175G>A (p.Val1059Ile)
c.3265G>A (p.Val1089Ile)
c.3226G>A (p.Val1076Ile)
n.4262G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10762542C>ACA401923579PIEZO2c.3207G>T (p.Trp1069Cys)
n.3264G>T
c.3132G>T (p.Trp1044Cys)
c.2985G>T (p.Trp995Cys)
c.3174G>T (p.Trp1058Cys)
c.3264G>T (p.Trp1088Cys)
c.3225G>T (p.Trp1075Cys)
n.4261G>T
18g.10762542C>GCA401923580PIEZO2c.3207G>C (p.Trp1069Cys)
n.3264G>C
c.3132G>C (p.Trp1044Cys)
c.2985G>C (p.Trp995Cys)
c.3174G>C (p.Trp1058Cys)
c.3264G>C (p.Trp1088Cys)
c.3225G>C (p.Trp1075Cys)
n.4261G>C
18g.10762542C>TCA401923581PIEZO2c.3207G>A (p.Trp1069Ter)
n.3264G>A
c.3132G>A (p.Trp1044Ter)
c.2985G>A (p.Trp995Ter)
c.3174G>A (p.Trp1058Ter)
c.3264G>A (p.Trp1088Ter)
c.3225G>A (p.Trp1075Ter)
n.4261G>A
18g.10762543C>ACA401923582PIEZO2c.3206G>T (p.Trp1069Leu)
n.3263G>T
c.3131G>T (p.Trp1044Leu)
c.2984G>T (p.Trp995Leu)
c.3173G>T (p.Trp1058Leu)
c.3263G>T (p.Trp1088Leu)
c.3224G>T (p.Trp1075Leu)
n.4260G>T
18g.10762543C>GCA401923583PIEZO2c.3206G>C (p.Trp1069Ser)
n.3263G>C
c.3131G>C (p.Trp1044Ser)
c.2984G>C (p.Trp995Ser)
c.3173G>C (p.Trp1058Ser)
c.3263G>C (p.Trp1088Ser)
c.3224G>C (p.Trp1075Ser)
n.4260G>C
18g.10762543C>TCA401923584PIEZO2c.3206G>A (p.Trp1069Ter)
n.3263G>A
c.3131G>A (p.Trp1044Ter)
c.2984G>A (p.Trp995Ter)
c.3173G>A (p.Trp1058Ter)
c.3263G>A (p.Trp1088Ter)
c.3224G>A (p.Trp1075Ter)
n.4260G>A
18g.10762544A>CCA401923587PIEZO2c.3205T>G (p.Trp1069Gly)
n.3262T>G
c.3130T>G (p.Trp1044Gly)
c.2983T>G (p.Trp995Gly)
c.3172T>G (p.Trp1058Gly)
c.3262T>G (p.Trp1088Gly)
c.3223T>G (p.Trp1075Gly)
n.4259T>G
18g.10762544A>GCA401923585PIEZO2c.3205T>C (p.Trp1069Arg)
n.3262T>C
c.3130T>C (p.Trp1044Arg)
c.2983T>C (p.Trp995Arg)
c.3172T>C (p.Trp1058Arg)
c.3262T>C (p.Trp1088Arg)
c.3223T>C (p.Trp1075Arg)
n.4259T>C
18g.10762544A>TCA401923586PIEZO2c.3205T>A (p.Trp1069Arg)
n.3262T>A
c.3130T>A (p.Trp1044Arg)
c.2983T>A (p.Trp995Arg)
c.3172T>A (p.Trp1058Arg)
c.3262T>A (p.Trp1088Arg)
c.3223T>A (p.Trp1075Arg)
n.4259T>A
18g.10762545C>ACA401923588PIEZO2c.3204G>T (p.Glu1068Asp)
n.3261G>T
c.3129G>T (p.Glu1043Asp)
c.2982G>T (p.Glu994Asp)
c.3171G>T (p.Glu1057Asp)
c.3261G>T (p.Glu1087Asp)
c.3222G>T (p.Glu1074Asp)
n.4258G>T
18g.10762545C>GCA401923589PIEZO2c.3204G>C (p.Glu1068Asp)
n.3261G>C
c.3129G>C (p.Glu1043Asp)
c.2982G>C (p.Glu994Asp)
c.3171G>C (p.Glu1057Asp)
c.3261G>C (p.Glu1087Asp)
c.3222G>C (p.Glu1074Asp)
n.4258G>C
 gnomAD v4
18g.10762545C>TCA502900391PIEZO2c.3204G>A (p.Glu1068=)
n.3261G>A
c.3129G>A (p.Glu1043=)
c.2982G>A (p.Glu994=)
c.3171G>A (p.Glu1057=)
c.3261G>A (p.Glu1087=)
c.3222G>A (p.Glu1074=)
n.4258G>A
18g.10762546T>ACA401923590PIEZO2c.3203A>T (p.Glu1068Val)
n.3260A>T
c.3128A>T (p.Glu1043Val)
c.2981A>T (p.Glu994Val)
c.3170A>T (p.Glu1057Val)
c.3260A>T (p.Glu1087Val)
c.3221A>T (p.Glu1074Val)
n.4257A>T
18g.10762546T>CCA401923591PIEZO2c.3203A>G (p.Glu1068Gly)
n.3260A>G
c.3128A>G (p.Glu1043Gly)
c.2981A>G (p.Glu994Gly)
c.3170A>G (p.Glu1057Gly)
c.3260A>G (p.Glu1087Gly)
c.3221A>G (p.Glu1074Gly)
n.4257A>G
18g.10762546T>GCA401923592PIEZO2c.3203A>C (p.Glu1068Ala)
n.3260A>C
c.3128A>C (p.Glu1043Ala)
c.2981A>C (p.Glu994Ala)
c.3170A>C (p.Glu1057Ala)
c.3260A>C (p.Glu1087Ala)
c.3221A>C (p.Glu1074Ala)
n.4257A>C
 dbSNP gnomAD v3 gnomAD v4
18g.10762546T=CA2284452424PIEZO2c.3203A= (p.Glu1068=)
n.3260A=
c.3128A= (p.Glu1043=)
c.2981A= (p.Glu994=)
c.3170A= (p.Glu1057=)
c.3260A= (p.Glu1087=)
c.3221A= (p.Glu1074=)
n.4257A=
18g.10762547C>ACA401923593PIEZO2c.3202G>T (p.Glu1068Ter)
n.3259G>T
c.3127G>T (p.Glu1043Ter)
c.2980G>T (p.Glu994Ter)
c.3169G>T (p.Glu1057Ter)
c.3259G>T (p.Glu1087Ter)
c.3220G>T (p.Glu1074Ter)
n.4256G>T
18g.10762547C=CA2284452425PIEZO2c.3202G= (p.Glu1068=)
n.3259G=
c.3127G= (p.Glu1043=)
c.2980G= (p.Glu994=)
c.3169G= (p.Glu1057=)
c.3259G= (p.Glu1087=)
c.3220G= (p.Glu1074=)
n.4256G=
18g.10762547C>GCA401923594PIEZO2c.3202G>C (p.Glu1068Gln)
n.3259G>C
c.3127G>C (p.Glu1043Gln)
c.2980G>C (p.Glu994Gln)
c.3169G>C (p.Glu1057Gln)
c.3259G>C (p.Glu1087Gln)
c.3220G>C (p.Glu1074Gln)
n.4256G>C
 dbSNP gnomAD v2 gnomAD v4
18g.10762547C>TCA296032314PIEZO2c.3202G>A (p.Glu1068Lys)
n.3259G>A
c.3127G>A (p.Glu1043Lys)
c.2980G>A (p.Glu994Lys)
c.3169G>A (p.Glu1057Lys)
c.3259G>A (p.Glu1087Lys)
c.3220G>A (p.Glu1074Lys)
n.4256G>A
 dbSNP gnomAD v4
18g.10762548T>ACA8892576PIEZO2c.3201A>T (p.Thr1067=)
n.3258A>T
c.3126A>T (p.Thr1042=)
c.2979A>T (p.Thr993=)
c.3168A>T (p.Thr1056=)
c.3258A>T (p.Thr1086=)
c.3219A>T (p.Thr1073=)
n.4255A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.10762548T>CCA296032320PIEZO2c.3201A>G (p.Thr1067=)
n.3258A>G
c.3126A>G (p.Thr1042=)
c.2979A>G (p.Thr993=)
c.3168A>G (p.Thr1056=)
c.3258A>G (p.Thr1086=)
c.3219A>G (p.Thr1073=)
n.4255A>G
 dbSNP gnomAD v2
18g.10762548T>GCA502900392PIEZO2c.3201A>C (p.Thr1067=)
n.3258A>C
c.3126A>C (p.Thr1042=)
c.2979A>C (p.Thr993=)
c.3168A>C (p.Thr1056=)
c.3258A>C (p.Thr1086=)
c.3219A>C (p.Thr1073=)
n.4255A>C
18g.10762548T=CA2284452426PIEZO2c.3201A= (p.Thr1067=)
n.3258A=
c.3126A= (p.Thr1042=)
c.2979A= (p.Thr993=)
c.3168A= (p.Thr1056=)
c.3258A= (p.Thr1086=)
c.3219A= (p.Thr1073=)
n.4255A=
18g.10762549_10762550delCA2576456616PIEZO2c.3200_3201del (p.Thr1067ArgfsTer18)
n.3257_3258del
c.3125_3126del (p.Thr1042ArgfsTer18)
c.2978_2979del (p.Thr993ArgfsTer18)
c.3167_3168del (p.Thr1056ArgfsTer18)
c.3257_3258del (p.Thr1086ArgfsTer18)
c.3218_3219del (p.Thr1073ArgfsTer18)
n.4254_4255del
18g.10762549G>ACA401923595PIEZO2c.3200C>T (p.Thr1067Ile)
n.3257C>T
c.3125C>T (p.Thr1042Ile)
c.2978C>T (p.Thr993Ile)
c.3167C>T (p.Thr1056Ile)
c.3257C>T (p.Thr1086Ile)
c.3218C>T (p.Thr1073Ile)
n.4254C>T
 dbSNP gnomAD v4
18g.10762549G>CCA401923596PIEZO2c.3200C>G (p.Thr1067Arg)
n.3257C>G
c.3125C>G (p.Thr1042Arg)
c.2978C>G (p.Thr993Arg)
c.3167C>G (p.Thr1056Arg)
c.3257C>G (p.Thr1086Arg)
c.3218C>G (p.Thr1073Arg)
n.4254C>G
18g.10762549G=CA2284452427PIEZO2c.3200C= (p.Thr1067=)
n.3257C=
c.3125C= (p.Thr1042=)
c.2978C= (p.Thr993=)
c.3167C= (p.Thr1056=)
c.3257C= (p.Thr1086=)
c.3218C= (p.Thr1073=)
n.4254C=
18g.10762549G>TCA401923597PIEZO2c.3200C>A (p.Thr1067Lys)
n.3257C>A
c.3125C>A (p.Thr1042Lys)
c.2978C>A (p.Thr993Lys)
c.3167C>A (p.Thr1056Lys)
c.3257C>A (p.Thr1086Lys)
c.3218C>A (p.Thr1073Lys)
n.4254C>A
18g.10762550T>ACA401923598PIEZO2c.3199A>T (p.Thr1067Ser)
n.3256A>T
c.3124A>T (p.Thr1042Ser)
c.2977A>T (p.Thr993Ser)
c.3166A>T (p.Thr1056Ser)
c.3256A>T (p.Thr1086Ser)
c.3217A>T (p.Thr1073Ser)
n.4253A>T
 gnomAD v4
18g.10762550T>CCA401923599PIEZO2c.3199A>G (p.Thr1067Ala)
n.3256A>G
c.3124A>G (p.Thr1042Ala)
c.2977A>G (p.Thr993Ala)
c.3166A>G (p.Thr1056Ala)
c.3256A>G (p.Thr1086Ala)
c.3217A>G (p.Thr1073Ala)
n.4253A>G
 dbSNP gnomAD v4
18g.10762550T>GCA401923600PIEZO2c.3199A>C (p.Thr1067Pro)
n.3256A>C
c.3124A>C (p.Thr1042Pro)
c.2977A>C (p.Thr993Pro)
c.3166A>C (p.Thr1056Pro)
c.3256A>C (p.Thr1086Pro)
c.3217A>C (p.Thr1073Pro)
n.4253A>C
18g.10762550T=CA2284452428PIEZO2c.3199A= (p.Thr1067=)
n.3256A=
c.3124A= (p.Thr1042=)
c.2977A= (p.Thr993=)
c.3166A= (p.Thr1056=)
c.3256A= (p.Thr1086=)
c.3217A= (p.Thr1073=)
n.4253A=
18g.10762551A>CCA502900394PIEZO2c.3198T>G (p.Pro1066=)
n.3255T>G
c.3123T>G (p.Pro1041=)
c.2976T>G (p.Pro992=)
c.3165T>G (p.Pro1055=)
c.3255T>G (p.Pro1085=)
c.3216T>G (p.Pro1072=)
n.4252T>G
18g.10762551A>GCA502900395PIEZO2c.3198T>C (p.Pro1066=)
n.3255T>C
c.3123T>C (p.Pro1041=)
c.2976T>C (p.Pro992=)
c.3165T>C (p.Pro1055=)
c.3255T>C (p.Pro1085=)
c.3216T>C (p.Pro1072=)
n.4252T>C
18g.10762551A>TCA502900397PIEZO2c.3198T>A (p.Pro1066=)
n.3255T>A
c.3123T>A (p.Pro1041=)
c.2976T>A (p.Pro992=)
c.3165T>A (p.Pro1055=)
c.3255T>A (p.Pro1085=)
c.3216T>A (p.Pro1072=)
n.4252T>A
18g.10762552G>ACA401923601PIEZO2c.3197C>T (p.Pro1066Leu)
n.3254C>T
c.3122C>T (p.Pro1041Leu)
c.2975C>T (p.Pro992Leu)
c.3164C>T (p.Pro1055Leu)
c.3254C>T (p.Pro1085Leu)
c.3215C>T (p.Pro1072Leu)
n.4251C>T
18g.10762552G>CCA401923602PIEZO2c.3197C>G (p.Pro1066Arg)
n.3254C>G
c.3122C>G (p.Pro1041Arg)
c.2975C>G (p.Pro992Arg)
c.3164C>G (p.Pro1055Arg)
c.3254C>G (p.Pro1085Arg)
c.3215C>G (p.Pro1072Arg)
n.4251C>G
18g.10762552G>TCA401923603PIEZO2c.3197C>A (p.Pro1066His)
n.3254C>A
c.3122C>A (p.Pro1041His)
c.2975C>A (p.Pro992His)
c.3164C>A (p.Pro1055His)
c.3254C>A (p.Pro1085His)
c.3215C>A (p.Pro1072His)
n.4251C>A
18g.10762553delCA2810961922PIEZO2c.3197del (p.Pro1066LeufsTer14)
n.3254del
c.3122del (p.Pro1041LeufsTer14)
c.2975del (p.Pro992LeufsTer14)
c.3164del (p.Pro1055LeufsTer14)
c.3254del (p.Pro1085LeufsTer14)
c.3215del (p.Pro1072LeufsTer14)
n.4251del
18g.10762553G>ACA401923604PIEZO2c.3196C>T (p.Pro1066Ser)
n.3253C>T
c.3121C>T (p.Pro1041Ser)
c.2974C>T (p.Pro992Ser)
c.3163C>T (p.Pro1055Ser)
c.3253C>T (p.Pro1085Ser)
c.3214C>T (p.Pro1072Ser)
n.4250C>T
18g.10762553G>CCA401923606PIEZO2c.3196C>G (p.Pro1066Ala)
n.3253C>G
c.3121C>G (p.Pro1041Ala)
c.2974C>G (p.Pro992Ala)
c.3163C>G (p.Pro1055Ala)
c.3253C>G (p.Pro1085Ala)
c.3214C>G (p.Pro1072Ala)
n.4250C>G
18g.10762553G=CA2284452429PIEZO2c.3196C= (p.Pro1066=)
n.3253C=
c.3121C= (p.Pro1041=)
c.2974C= (p.Pro992=)
c.3163C= (p.Pro1055=)
c.3253C= (p.Pro1085=)
c.3214C= (p.Pro1072=)
n.4250C=
18g.10762553G>TCA401923605PIEZO2c.3196C>A (p.Pro1066Thr)
n.3253C>A
c.3121C>A (p.Pro1041Thr)
c.2974C>A (p.Pro992Thr)
c.3163C>A (p.Pro1055Thr)
c.3253C>A (p.Pro1085Thr)
c.3214C>A (p.Pro1072Thr)
n.4250C>A
 dbSNP gnomAD v2 gnomAD v4
18g.10762554A>CCA401923607PIEZO2c.3195T>G (p.Asp1065Glu)
n.3252T>G
c.3120T>G (p.Asp1040Glu)
c.2973T>G (p.Asp991Glu)
c.3162T>G (p.Asp1054Glu)
c.3252T>G (p.Asp1084Glu)
c.3213T>G (p.Asp1071Glu)
n.4249T>G
18g.10762554A>GCA502900398PIEZO2c.3195T>C (p.Asp1065=)
n.3252T>C
c.3120T>C (p.Asp1040=)
c.2973T>C (p.Asp991=)
c.3162T>C (p.Asp1054=)
c.3252T>C (p.Asp1084=)
c.3213T>C (p.Asp1071=)
n.4249T>C
18g.10762554A>TCA401923608PIEZO2c.3195T>A (p.Asp1065Glu)
n.3252T>A
c.3120T>A (p.Asp1040Glu)
c.2973T>A (p.Asp991Glu)
c.3162T>A (p.Asp1054Glu)
c.3252T>A (p.Asp1084Glu)
c.3213T>A (p.Asp1071Glu)
n.4249T>A
18g.10762555T>ACA401923609PIEZO2c.3194A>T (p.Asp1065Val)
n.3251A>T
c.3119A>T (p.Asp1040Val)
c.2972A>T (p.Asp991Val)
c.3161A>T (p.Asp1054Val)
c.3251A>T (p.Asp1084Val)
c.3212A>T (p.Asp1071Val)
n.4248A>T
18g.10762555T>CCA401923611PIEZO2c.3194A>G (p.Asp1065Gly)
n.3251A>G
c.3119A>G (p.Asp1040Gly)
c.2972A>G (p.Asp991Gly)
c.3161A>G (p.Asp1054Gly)
c.3251A>G (p.Asp1084Gly)
c.3212A>G (p.Asp1071Gly)
n.4248A>G
18g.10762555T>GCA401923610PIEZO2c.3194A>C (p.Asp1065Ala)
n.3251A>C
c.3119A>C (p.Asp1040Ala)
c.2972A>C (p.Asp991Ala)
c.3161A>C (p.Asp1054Ala)
c.3251A>C (p.Asp1084Ala)
c.3212A>C (p.Asp1071Ala)
n.4248A>C
18g.10762556C>ACA296032323PIEZO2c.3193G>T (p.Asp1065Tyr)
n.3250G>T
c.3118G>T (p.Asp1040Tyr)
c.2971G>T (p.Asp991Tyr)
c.3160G>T (p.Asp1054Tyr)
c.3250G>T (p.Asp1084Tyr)
c.3211G>T (p.Asp1071Tyr)
n.4247G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10762556C=CA2284452430PIEZO2c.3193G= (p.Asp1065=)
n.3250G=
c.3118G= (p.Asp1040=)
c.2971G= (p.Asp991=)
c.3160G= (p.Asp1054=)
c.3250G= (p.Asp1084=)
c.3211G= (p.Asp1071=)
n.4247G=
18g.10762556C>GCA401923612PIEZO2c.3193G>C (p.Asp1065His)
n.3250G>C
c.3118G>C (p.Asp1040His)
c.2971G>C (p.Asp991His)
c.3160G>C (p.Asp1054His)
c.3250G>C (p.Asp1084His)
c.3211G>C (p.Asp1071His)
n.4247G>C
 ClinVar dbSNP gnomAD v4
18g.10762556C>TCA8892577PIEZO2c.3193G>A (p.Asp1065Asn)
n.3250G>A
c.3118G>A (p.Asp1040Asn)
c.2971G>A (p.Asp991Asn)
c.3160G>A (p.Asp1054Asn)
c.3250G>A (p.Asp1084Asn)
c.3211G>A (p.Asp1071Asn)
n.4247G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.10762557G>ACA8892578PIEZO2c.3192C>T (p.Ile1064=)
n.3249C>T
c.3117C>T (p.Ile1039=)
c.2970C>T (p.Ile990=)
c.3159C>T (p.Ile1053=)
c.3249C>T (p.Ile1083=)
c.3210C>T (p.Ile1070=)
n.4246C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.10762557G>CCA401923613PIEZO2c.3192C>G (p.Ile1064Met)
n.3249C>G
c.3117C>G (p.Ile1039Met)
c.2970C>G (p.Ile990Met)
c.3159C>G (p.Ile1053Met)
c.3249C>G (p.Ile1083Met)
c.3210C>G (p.Ile1070Met)
n.4246C>G
 gnomAD v4
18g.10762557G=CA2284452431PIEZO2c.3192C= (p.Ile1064=)
n.3249C=
c.3117C= (p.Ile1039=)
c.2970C= (p.Ile990=)
c.3159C= (p.Ile1053=)
c.3249C= (p.Ile1083=)
c.3210C= (p.Ile1070=)
n.4246C=
18g.10762557G>TCA502900400PIEZO2c.3192C>A (p.Ile1064=)
n.3249C>A
c.3117C>A (p.Ile1039=)
c.2970C>A (p.Ile990=)
c.3159C>A (p.Ile1053=)
c.3249C>A (p.Ile1083=)
c.3210C>A (p.Ile1070=)
n.4246C>A
 gnomAD v4
18g.10762558A>CCA401923614PIEZO2c.3191T>G (p.Ile1064Ser)
n.3248T>G
c.3116T>G (p.Ile1039Ser)
c.2969T>G (p.Ile990Ser)
c.3158T>G (p.Ile1053Ser)
c.3248T>G (p.Ile1083Ser)
c.3209T>G (p.Ile1070Ser)
n.4245T>G
18g.10762558A>GCA401923615PIEZO2c.3191T>C (p.Ile1064Thr)
n.3248T>C
c.3116T>C (p.Ile1039Thr)
c.2969T>C (p.Ile990Thr)
c.3158T>C (p.Ile1053Thr)
c.3248T>C (p.Ile1083Thr)
c.3209T>C (p.Ile1070Thr)
n.4245T>C
18g.10762558A>TCA401923616PIEZO2c.3191T>A (p.Ile1064Asn)
n.3248T>A
c.3116T>A (p.Ile1039Asn)
c.2969T>A (p.Ile990Asn)
c.3158T>A (p.Ile1053Asn)
c.3248T>A (p.Ile1083Asn)
c.3209T>A (p.Ile1070Asn)
n.4245T>A
18g.10762559T>ACA401923617PIEZO2c.3190A>T (p.Ile1064Phe)
n.3247A>T
c.3115A>T (p.Ile1039Phe)
c.2968A>T (p.Ile990Phe)
c.3157A>T (p.Ile1053Phe)
c.3247A>T (p.Ile1083Phe)
c.3208A>T (p.Ile1070Phe)
n.4244A>T
18g.10762559T>CCA401923618PIEZO2c.3190A>G (p.Ile1064Val)
n.3247A>G
c.3115A>G (p.Ile1039Val)
c.2968A>G (p.Ile990Val)
c.3157A>G (p.Ile1053Val)
c.3247A>G (p.Ile1083Val)
c.3208A>G (p.Ile1070Val)
n.4244A>G
 dbSNP gnomAD v2 gnomAD v4
18g.10762559T>GCA401923619PIEZO2c.3190A>C (p.Ile1064Leu)
n.3247A>C
c.3115A>C (p.Ile1039Leu)
c.2968A>C (p.Ile990Leu)
c.3157A>C (p.Ile1053Leu)
c.3247A>C (p.Ile1083Leu)
c.3208A>C (p.Ile1070Leu)
n.4244A>C
 gnomAD v4
18g.10762559T=CA2284452432PIEZO2c.3190A= (p.Ile1064=)
n.3247A=
c.3115A= (p.Ile1039=)
c.2968A= (p.Ile990=)
c.3157A= (p.Ile1053=)
c.3247A= (p.Ile1083=)
c.3208A= (p.Ile1070=)
n.4244A=
18g.10762560A>CCA502900404PIEZO2c.3189T>G (p.Pro1063=)
n.3246T>G
c.3114T>G (p.Pro1038=)
c.2967T>G (p.Pro989=)
c.3156T>G (p.Pro1052=)
c.3246T>G (p.Pro1082=)
c.3207T>G (p.Pro1069=)
n.4243T>G
18g.10762560A>GCA502900403PIEZO2c.3189T>C (p.Pro1063=)
n.3246T>C
c.3114T>C (p.Pro1038=)
c.2967T>C (p.Pro989=)
c.3156T>C (p.Pro1052=)
c.3246T>C (p.Pro1082=)
c.3207T>C (p.Pro1069=)
n.4243T>C
18g.10762560A>TCA502900401PIEZO2c.3189T>A (p.Pro1063=)
n.3246T>A
c.3114T>A (p.Pro1038=)
c.2967T>A (p.Pro989=)
c.3156T>A (p.Pro1052=)
c.3246T>A (p.Pro1082=)
c.3207T>A (p.Pro1069=)
n.4243T>A
18g.10762561G>ACA401923622PIEZO2c.3188C>T (p.Pro1063Leu)
n.3245C>T
c.3113C>T (p.Pro1038Leu)
c.2966C>T (p.Pro989Leu)
c.3155C>T (p.Pro1052Leu)
c.3245C>T (p.Pro1082Leu)
c.3206C>T (p.Pro1069Leu)
n.4242C>T
 gnomAD v4
18g.10762561G>CCA401923621PIEZO2c.3188C>G (p.Pro1063Arg)
n.3245C>G
c.3113C>G (p.Pro1038Arg)
c.2966C>G (p.Pro989Arg)
c.3155C>G (p.Pro1052Arg)
c.3245C>G (p.Pro1082Arg)
c.3206C>G (p.Pro1069Arg)
n.4242C>G
 dbSNP
18g.10762561G=CA2284452433PIEZO2c.3188C= (p.Pro1063=)
n.3245C=
c.3113C= (p.Pro1038=)
c.2966C= (p.Pro989=)
c.3155C= (p.Pro1052=)
c.3245C= (p.Pro1082=)
c.3206C= (p.Pro1069=)
n.4242C=
18g.10762561G>TCA401923620PIEZO2c.3188C>A (p.Pro1063His)
n.3245C>A
c.3113C>A (p.Pro1038His)
c.2966C>A (p.Pro989His)
c.3155C>A (p.Pro1052His)
c.3245C>A (p.Pro1082His)
c.3206C>A (p.Pro1069His)
n.4242C>A
 gnomAD v4
18g.10762562G>ACA401923623PIEZO2c.3187C>T (p.Pro1063Ser)
n.3244C>T
c.3112C>T (p.Pro1038Ser)
c.2965C>T (p.Pro989Ser)
c.3154C>T (p.Pro1052Ser)
c.3244C>T (p.Pro1082Ser)
c.3205C>T (p.Pro1069Ser)
n.4241C>T
18g.10762562G>CCA401923624PIEZO2c.3187C>G (p.Pro1063Ala)
n.3244C>G
c.3112C>G (p.Pro1038Ala)
c.2965C>G (p.Pro989Ala)
c.3154C>G (p.Pro1052Ala)
c.3244C>G (p.Pro1082Ala)
c.3205C>G (p.Pro1069Ala)
n.4241C>G
18g.10762562G>TCA401923625PIEZO2c.3187C>A (p.Pro1063Thr)
n.3244C>A
c.3112C>A (p.Pro1038Thr)
c.2965C>A (p.Pro989Thr)
c.3154C>A (p.Pro1052Thr)
c.3244C>A (p.Pro1082Thr)
c.3205C>A (p.Pro1069Thr)
n.4241C>A
18g.10762563A>CCA502900405PIEZO2c.3186T>G (p.Ala1062=)
n.3243T>G
c.3111T>G (p.Ala1037=)
c.2964T>G (p.Ala988=)
c.3153T>G (p.Ala1051=)
c.3243T>G (p.Ala1081=)
c.3204T>G (p.Ala1068=)
n.4240T>G
18g.10762563A>GCA502900406PIEZO2c.3186T>C (p.Ala1062=)
n.3243T>C
c.3111T>C (p.Ala1037=)
c.2964T>C (p.Ala988=)
c.3153T>C (p.Ala1051=)
c.3243T>C (p.Ala1081=)
c.3204T>C (p.Ala1068=)
n.4240T>C
18g.10762563A>TCA502900407PIEZO2c.3186T>A (p.Ala1062=)
n.3243T>A
c.3111T>A (p.Ala1037=)
c.2964T>A (p.Ala988=)
c.3153T>A (p.Ala1051=)
c.3243T>A (p.Ala1081=)
c.3204T>A (p.Ala1068=)
n.4240T>A
18g.10762564G>ACA401923626PIEZO2c.3185C>T (p.Ala1062Val)
n.3242C>T
c.3110C>T (p.Ala1037Val)
c.2963C>T (p.Ala988Val)
c.3152C>T (p.Ala1051Val)
c.3242C>T (p.Ala1081Val)
c.3203C>T (p.Ala1068Val)
n.4239C>T
 dbSNP gnomAD v2 gnomAD v4
18g.10762564G>CCA401923627PIEZO2c.3185C>G (p.Ala1062Gly)
n.3242C>G
c.3110C>G (p.Ala1037Gly)
c.2963C>G (p.Ala988Gly)
c.3152C>G (p.Ala1051Gly)
c.3242C>G (p.Ala1081Gly)
c.3203C>G (p.Ala1068Gly)
n.4239C>G
18g.10762564G=CA2284452434PIEZO2c.3185C= (p.Ala1062=)
n.3242C=
c.3110C= (p.Ala1037=)
c.2963C= (p.Ala988=)
c.3152C= (p.Ala1051=)
c.3242C= (p.Ala1081=)
c.3203C= (p.Ala1068=)
n.4239C=
18g.10762564G>TCA401923628PIEZO2c.3185C>A (p.Ala1062Asp)
n.3242C>A
c.3110C>A (p.Ala1037Asp)
c.2963C>A (p.Ala988Asp)
c.3152C>A (p.Ala1051Asp)
c.3242C>A (p.Ala1081Asp)
c.3203C>A (p.Ala1068Asp)
n.4239C>A
18g.10762565C>ACA401923629PIEZO2c.3184G>T (p.Ala1062Ser)
n.3241G>T
c.3109G>T (p.Ala1037Ser)
c.2962G>T (p.Ala988Ser)
c.3151G>T (p.Ala1051Ser)
c.3241G>T (p.Ala1081Ser)
c.3202G>T (p.Ala1068Ser)
n.4238G>T
 dbSNP gnomAD v2 gnomAD v4
18g.10762565C=CA2284452435PIEZO2c.3184G= (p.Ala1062=)
n.3241G=
c.3109G= (p.Ala1037=)
c.2962G= (p.Ala988=)
c.3151G= (p.Ala1051=)
c.3241G= (p.Ala1081=)
c.3202G= (p.Ala1068=)
n.4238G=
18g.10762565C>GCA401923630PIEZO2c.3184G>C (p.Ala1062Pro)
n.3241G>C
c.3109G>C (p.Ala1037Pro)
c.2962G>C (p.Ala988Pro)
c.3151G>C (p.Ala1051Pro)
c.3241G>C (p.Ala1081Pro)
c.3202G>C (p.Ala1068Pro)
n.4238G>C
18g.10762565C>TCA296032339PIEZO2c.3184G>A (p.Ala1062Thr)
n.3241G>A
c.3109G>A (p.Ala1037Thr)
c.2962G>A (p.Ala988Thr)
c.3151G>A (p.Ala1051Thr)
c.3241G>A (p.Ala1081Thr)
c.3202G>A (p.Ala1068Thr)
n.4238G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10762566G>ACA502900409PIEZO2c.3183C>T (p.Ser1061=)
n.3240C>T
c.3108C>T (p.Ser1036=)
c.2961C>T (p.Ser987=)
c.3150C>T (p.Ser1050=)
c.3240C>T (p.Ser1080=)
c.3201C>T (p.Ser1067=)
n.4237C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.10762566G>CCA401923631PIEZO2c.3183C>G (p.Ser1061Arg)
n.3240C>G
c.3108C>G (p.Ser1036Arg)
c.2961C>G (p.Ser987Arg)
c.3150C>G (p.Ser1050Arg)
c.3240C>G (p.Ser1080Arg)
c.3201C>G (p.Ser1067Arg)
n.4237C>G
18g.10762566G=CA2284452436PIEZO2c.3183C= (p.Ser1061=)
n.3240C=
c.3108C= (p.Ser1036=)
c.2961C= (p.Ser987=)
c.3150C= (p.Ser1050=)
c.3240C= (p.Ser1080=)
c.3201C= (p.Ser1067=)
n.4237C=
18g.10762566G>TCA401923632PIEZO2c.3183C>A (p.Ser1061Arg)
n.3240C>A
c.3108C>A (p.Ser1036Arg)
c.2961C>A (p.Ser987Arg)
c.3150C>A (p.Ser1050Arg)
c.3240C>A (p.Ser1080Arg)
c.3201C>A (p.Ser1067Arg)
n.4237C>A
 dbSNP gnomAD v2 gnomAD v4
18g.10762567C>ACA401923635PIEZO2c.3182G>T (p.Ser1061Ile)
n.3239G>T
c.3107G>T (p.Ser1036Ile)
c.2960G>T (p.Ser987Ile)
c.3149G>T (p.Ser1050Ile)
c.3239G>T (p.Ser1080Ile)
c.3200G>T (p.Ser1067Ile)
n.4236G>T
 gnomAD v4
18g.10762567C=CA2284452437PIEZO2c.3182G= (p.Ser1061=)
n.3239G=
c.3107G= (p.Ser1036=)
c.2960G= (p.Ser987=)
c.3149G= (p.Ser1050=)
c.3239G= (p.Ser1080=)
c.3200G= (p.Ser1067=)
n.4236G=
18g.10762567C>GCA401923634PIEZO2c.3182G>C (p.Ser1061Thr)
n.3239G>C
c.3107G>C (p.Ser1036Thr)
c.2960G>C (p.Ser987Thr)
c.3149G>C (p.Ser1050Thr)
c.3239G>C (p.Ser1080Thr)
c.3200G>C (p.Ser1067Thr)
n.4236G>C
18g.10762567C>TCA401923633PIEZO2c.3182G>A (p.Ser1061Asn)
n.3239G>A
c.3107G>A (p.Ser1036Asn)
c.2960G>A (p.Ser987Asn)
c.3149G>A (p.Ser1050Asn)
c.3239G>A (p.Ser1080Asn)
c.3200G>A (p.Ser1067Asn)
n.4236G>A
 dbSNP gnomAD v4
18g.10762568T>ACA401923636PIEZO2c.3181A>T (p.Ser1061Cys)
n.3238A>T
c.3106A>T (p.Ser1036Cys)
c.2959A>T (p.Ser987Cys)
c.3148A>T (p.Ser1050Cys)
c.3238A>T (p.Ser1080Cys)
c.3199A>T (p.Ser1067Cys)
n.4235A>T
18g.10762568T>CCA401923637PIEZO2c.3181A>G (p.Ser1061Gly)
n.3238A>G
c.3106A>G (p.Ser1036Gly)
c.2959A>G (p.Ser987Gly)
c.3148A>G (p.Ser1050Gly)
c.3238A>G (p.Ser1080Gly)
c.3199A>G (p.Ser1067Gly)
n.4235A>G
18g.10762568T>GCA401923638PIEZO2c.3181A>C (p.Ser1061Arg)
n.3238A>C
c.3106A>C (p.Ser1036Arg)
c.2959A>C (p.Ser987Arg)
c.3148A>C (p.Ser1050Arg)
c.3238A>C (p.Ser1080Arg)
c.3199A>C (p.Ser1067Arg)
n.4235A>C
18g.10762569G>ACA502900410PIEZO2c.3180C>T (p.Tyr1060=)
n.3237C>T
c.3105C>T (p.Tyr1035=)
c.2958C>T (p.Tyr986=)
c.3147C>T (p.Tyr1049=)
c.3237C>T (p.Tyr1079=)
c.3198C>T (p.Tyr1066=)
n.4234C>T
 gnomAD v4
18g.10762569G>CCA401923639PIEZO2c.3180C>G (p.Tyr1060Ter)
n.3237C>G
c.3105C>G (p.Tyr1035Ter)
c.2958C>G (p.Tyr986Ter)
c.3147C>G (p.Tyr1049Ter)
c.3237C>G (p.Tyr1079Ter)
c.3198C>G (p.Tyr1066Ter)
n.4234C>G
18g.10762569G=CA2284452438PIEZO2c.3180C= (p.Tyr1060=)
n.3237C=
c.3105C= (p.Tyr1035=)
c.2958C= (p.Tyr986=)
c.3147C= (p.Tyr1049=)
c.3237C= (p.Tyr1079=)
c.3198C= (p.Tyr1066=)
n.4234C=
18g.10762569G>TCA401923640PIEZO2c.3180C>A (p.Tyr1060Ter)
n.3237C>A
c.3105C>A (p.Tyr1035Ter)
c.2958C>A (p.Tyr986Ter)
c.3147C>A (p.Tyr1049Ter)
c.3237C>A (p.Tyr1079Ter)
c.3198C>A (p.Tyr1066Ter)
n.4234C>A
 dbSNP
18g.10762570T>ACA401923643PIEZO2c.3179A>T (p.Tyr1060Phe)
n.3236A>T
c.3104A>T (p.Tyr1035Phe)
c.2957A>T (p.Tyr986Phe)
c.3146A>T (p.Tyr1049Phe)
c.3236A>T (p.Tyr1079Phe)
c.3197A>T (p.Tyr1066Phe)
n.4233A>T
18g.10762570T>CCA401923642PIEZO2c.3179A>G (p.Tyr1060Cys)
n.3236A>G
c.3104A>G (p.Tyr1035Cys)
c.2957A>G (p.Tyr986Cys)
c.3146A>G (p.Tyr1049Cys)
c.3236A>G (p.Tyr1079Cys)
c.3197A>G (p.Tyr1066Cys)
n.4233A>G
18g.10762570T>GCA401923641PIEZO2c.3179A>C (p.Tyr1060Ser)
n.3236A>C
c.3104A>C (p.Tyr1035Ser)
c.2957A>C (p.Tyr986Ser)
c.3146A>C (p.Tyr1049Ser)
c.3236A>C (p.Tyr1079Ser)
c.3197A>C (p.Tyr1066Ser)
n.4233A>C
18g.10762571A=CA2284452439PIEZO2c.3178T= (p.Tyr1060=)
n.3235T=
c.3103T= (p.Tyr1035=)
c.2956T= (p.Tyr986=)
c.3145T= (p.Tyr1049=)
c.3235T= (p.Tyr1079=)
c.3196T= (p.Tyr1066=)
n.4232T=
18g.10762571A>CCA401923644PIEZO2c.3178T>G (p.Tyr1060Asp)
n.3235T>G
c.3103T>G (p.Tyr1035Asp)
c.2956T>G (p.Tyr986Asp)
c.3145T>G (p.Tyr1049Asp)
c.3235T>G (p.Tyr1079Asp)
c.3196T>G (p.Tyr1066Asp)
n.4232T>G
18g.10762571A>GCA296032344PIEZO2c.3178T>C (p.Tyr1060His)
n.3235T>C
c.3103T>C (p.Tyr1035His)
c.2956T>C (p.Tyr986His)
c.3145T>C (p.Tyr1049His)
c.3235T>C (p.Tyr1079His)
c.3196T>C (p.Tyr1066His)
n.4232T>C
 dbSNP gnomAD v3 gnomAD v4
18g.10762571A>TCA401923645PIEZO2c.3178T>A (p.Tyr1060Asn)
n.3235T>A
c.3103T>A (p.Tyr1035Asn)
c.2956T>A (p.Tyr986Asn)
c.3145T>A (p.Tyr1049Asn)
c.3235T>A (p.Tyr1079Asn)
c.3196T>A (p.Tyr1066Asn)
n.4232T>A
18g.10762572G>ACA502900411PIEZO2c.3177C>T (p.Leu1059=)
n.3234C>T
c.3102C>T (p.Leu1034=)
c.2955C>T (p.Leu985=)
c.3144C>T (p.Leu1048=)
c.3234C>T (p.Leu1078=)
c.3195C>T (p.Leu1065=)
n.4231C>T
18g.10762572G>CCA502900413PIEZO2c.3177C>G (p.Leu1059=)
n.3234C>G
c.3102C>G (p.Leu1034=)
c.2955C>G (p.Leu985=)
c.3144C>G (p.Leu1048=)
c.3234C>G (p.Leu1078=)
c.3195C>G (p.Leu1065=)
n.4231C>G
 gnomAD v4
18g.10762572G>TCA502900412PIEZO2c.3177C>A (p.Leu1059=)
n.3234C>A
c.3102C>A (p.Leu1034=)
c.2955C>A (p.Leu985=)
c.3144C>A (p.Leu1048=)
c.3234C>A (p.Leu1078=)
c.3195C>A (p.Leu1065=)
n.4231C>A
18g.10762573A>CCA401923646PIEZO2c.3176T>G (p.Leu1059Arg)
n.3233T>G
c.3101T>G (p.Leu1034Arg)
c.2954T>G (p.Leu985Arg)
c.3143T>G (p.Leu1048Arg)
c.3233T>G (p.Leu1078Arg)
c.3194T>G (p.Leu1065Arg)
n.4230T>G
18g.10762573A>GCA401923647PIEZO2c.3176T>C (p.Leu1059Pro)
n.3233T>C
c.3101T>C (p.Leu1034Pro)
c.2954T>C (p.Leu985Pro)
c.3143T>C (p.Leu1048Pro)
c.3233T>C (p.Leu1078Pro)
c.3194T>C (p.Leu1065Pro)
n.4230T>C
18g.10762573A>TCA401923648PIEZO2c.3176T>A (p.Leu1059His)
n.3233T>A
c.3101T>A (p.Leu1034His)
c.2954T>A (p.Leu985His)
c.3143T>A (p.Leu1048His)
c.3233T>A (p.Leu1078His)
c.3194T>A (p.Leu1065His)
n.4230T>A
18g.10762574G>ACA401923649PIEZO2c.3175C>T (p.Leu1059Phe)
n.3232C>T
c.3100C>T (p.Leu1034Phe)
c.2953C>T (p.Leu985Phe)
c.3142C>T (p.Leu1048Phe)
c.3232C>T (p.Leu1078Phe)
c.3193C>T (p.Leu1065Phe)
n.4229C>T
 gnomAD v4
18g.10762574G>CCA401923651PIEZO2c.3175C>G (p.Leu1059Val)
n.3232C>G
c.3100C>G (p.Leu1034Val)
c.2953C>G (p.Leu985Val)
c.3142C>G (p.Leu1048Val)
c.3232C>G (p.Leu1078Val)
c.3193C>G (p.Leu1065Val)
n.4229C>G
18g.10762574G>TCA401923650PIEZO2c.3175C>A (p.Leu1059Ile)
n.3232C>A
c.3100C>A (p.Leu1034Ile)
c.2953C>A (p.Leu985Ile)
c.3142C>A (p.Leu1048Ile)
c.3232C>A (p.Leu1078Ile)
c.3193C>A (p.Leu1065Ile)
n.4229C>A
 dbSNP
18g.10762575C>ACA502900414PIEZO2c.3174G>T (p.Leu1058=)
n.3231G>T
c.3099G>T (p.Leu1033=)
c.2952G>T (p.Leu984=)
c.3141G>T (p.Leu1047=)
c.3231G>T (p.Leu1077=)
c.3192G>T (p.Leu1064=)
n.4228G>T
18g.10762575C>GCA502900415PIEZO2c.3174G>C (p.Leu1058=)
n.3231G>C
c.3099G>C (p.Leu1033=)
c.2952G>C (p.Leu984=)
c.3141G>C (p.Leu1047=)
c.3231G>C (p.Leu1077=)
c.3192G>C (p.Leu1064=)
n.4228G>C
18g.10762575C>TCA502900416PIEZO2c.3174G>A (p.Leu1058=)
n.3231G>A
c.3099G>A (p.Leu1033=)
c.2952G>A (p.Leu984=)
c.3141G>A (p.Leu1047=)
c.3231G>A (p.Leu1077=)
c.3192G>A (p.Leu1064=)
n.4228G>A
18g.10762576delCA2641014324PIEZO2c.3173del (p.Leu1058ArgfsTer22)
n.3230del
c.3098del (p.Leu1033ArgfsTer22)
c.2951del (p.Leu984ArgfsTer22)
c.3140del (p.Leu1047ArgfsTer22)
c.3230del (p.Leu1077ArgfsTer22)
c.3191del (p.Leu1064ArgfsTer22)
n.4227del
 gnomAD v4
18g.10762576A>CCA401923652PIEZO2c.3173T>G (p.Leu1058Arg)
n.3230T>G
c.3098T>G (p.Leu1033Arg)
c.2951T>G (p.Leu984Arg)
c.3140T>G (p.Leu1047Arg)
c.3230T>G (p.Leu1077Arg)
c.3191T>G (p.Leu1064Arg)
n.4227T>G
18g.10762576A>GCA401923653PIEZO2c.3173T>C (p.Leu1058Pro)
n.3230T>C
c.3098T>C (p.Leu1033Pro)
c.2951T>C (p.Leu984Pro)
c.3140T>C (p.Leu1047Pro)
c.3230T>C (p.Leu1077Pro)
c.3191T>C (p.Leu1064Pro)
n.4227T>C
18g.10762576A>TCA401923654PIEZO2c.3173T>A (p.Leu1058Gln)
n.3230T>A
c.3098T>A (p.Leu1033Gln)
c.2951T>A (p.Leu984Gln)
c.3140T>A (p.Leu1047Gln)
c.3230T>A (p.Leu1077Gln)
c.3191T>A (p.Leu1064Gln)
n.4227T>A
 COSMIC
18g.10762577G>ACA502900417PIEZO2c.3172C>T (p.Leu1058=)
n.3229C>T
c.3097C>T (p.Leu1033=)
c.2950C>T (p.Leu984=)
c.3139C>T (p.Leu1047=)
c.3229C>T (p.Leu1077=)
c.3190C>T (p.Leu1064=)
n.4226C>T
18g.10762577G>CCA401923655PIEZO2c.3172C>G (p.Leu1058Val)
n.3229C>G
c.3097C>G (p.Leu1033Val)
c.2950C>G (p.Leu984Val)
c.3139C>G (p.Leu1047Val)
c.3229C>G (p.Leu1077Val)
c.3190C>G (p.Leu1064Val)
n.4226C>G
18g.10762577G>TCA401923656PIEZO2c.3172C>A (p.Leu1058Met)
n.3229C>A
c.3097C>A (p.Leu1033Met)
c.2950C>A (p.Leu984Met)
c.3139C>A (p.Leu1047Met)
c.3229C>A (p.Leu1077Met)
c.3190C>A (p.Leu1064Met)
n.4226C>A
18g.10762578A=CA2284452440PIEZO2c.3171T= (p.Ser1057=)
n.3228T=
c.3096T= (p.Ser1032=)
c.2949T= (p.Ser983=)
c.3138T= (p.Ser1046=)
c.3228T= (p.Ser1076=)
c.3189T= (p.Ser1063=)
n.4225T=
18g.10762578A>CCA502900418PIEZO2c.3171T>G (p.Ser1057=)
n.3228T>G
c.3096T>G (p.Ser1032=)
c.2949T>G (p.Ser983=)
c.3138T>G (p.Ser1046=)
c.3228T>G (p.Ser1076=)
c.3189T>G (p.Ser1063=)
n.4225T>G
18g.10762578A>GCA502900419PIEZO2c.3171T>C (p.Ser1057=)
n.3228T>C
c.3096T>C (p.Ser1032=)
c.2949T>C (p.Ser983=)
c.3138T>C (p.Ser1046=)
c.3228T>C (p.Ser1076=)
c.3189T>C (p.Ser1063=)
n.4225T>C
 dbSNP gnomAD v3 gnomAD v4
18g.10762578A>TCA502900420PIEZO2c.3171T>A (p.Ser1057=)
n.3228T>A
c.3096T>A (p.Ser1032=)
c.2949T>A (p.Ser983=)
c.3138T>A (p.Ser1046=)
c.3228T>A (p.Ser1076=)
c.3189T>A (p.Ser1063=)
n.4225T>A
 gnomAD v4
18g.10762579G>ACA401923657PIEZO2c.3170C>T (p.Ser1057Phe)
n.3227C>T
c.3095C>T (p.Ser1032Phe)
c.2948C>T (p.Ser983Phe)
c.3137C>T (p.Ser1046Phe)
c.3227C>T (p.Ser1076Phe)
c.3188C>T (p.Ser1063Phe)
n.4224C>T
18g.10762579G>CCA401923658PIEZO2c.3170C>G (p.Ser1057Cys)
n.3227C>G
c.3095C>G (p.Ser1032Cys)
c.2948C>G (p.Ser983Cys)
c.3137C>G (p.Ser1046Cys)
c.3227C>G (p.Ser1076Cys)
c.3188C>G (p.Ser1063Cys)
n.4224C>G
 gnomAD v4
18g.10762579G>TCA401923659PIEZO2c.3170C>A (p.Ser1057Tyr)
n.3227C>A
c.3095C>A (p.Ser1032Tyr)
c.2948C>A (p.Ser983Tyr)
c.3137C>A (p.Ser1046Tyr)
c.3227C>A (p.Ser1076Tyr)
c.3188C>A (p.Ser1063Tyr)
n.4224C>A
18g.10762580A>CCA401923660PIEZO2c.3169T>G (p.Ser1057Ala)
n.3226T>G
c.3094T>G (p.Ser1032Ala)
c.2947T>G (p.Ser983Ala)
c.3136T>G (p.Ser1046Ala)
c.3226T>G (p.Ser1076Ala)
c.3187T>G (p.Ser1063Ala)
n.4223T>G
18g.10762580A>GCA401923661PIEZO2c.3169T>C (p.Ser1057Pro)
n.3226T>C
c.3094T>C (p.Ser1032Pro)
c.2947T>C (p.Ser983Pro)
c.3136T>C (p.Ser1046Pro)
c.3226T>C (p.Ser1076Pro)
c.3187T>C (p.Ser1063Pro)
n.4223T>C
18g.10762580A>TCA401923662PIEZO2c.3169T>A (p.Ser1057Thr)
n.3226T>A
c.3094T>A (p.Ser1032Thr)
c.2947T>A (p.Ser983Thr)
c.3136T>A (p.Ser1046Thr)
c.3226T>A (p.Ser1076Thr)
c.3187T>A (p.Ser1063Thr)
n.4223T>A
18g.10762581C>ACA401923663PIEZO2c.3168G>T (p.Lys1056Asn)
n.3225G>T
c.3093G>T (p.Lys1031Asn)
c.2946G>T (p.Lys982Asn)
c.3135G>T (p.Lys1045Asn)
c.3225G>T (p.Lys1075Asn)
c.3186G>T (p.Lys1062Asn)
n.4222G>T
18g.10762581C>GCA401923664PIEZO2c.3168G>C (p.Lys1056Asn)
n.3225G>C
c.3093G>C (p.Lys1031Asn)
c.2946G>C (p.Lys982Asn)
c.3135G>C (p.Lys1045Asn)
c.3225G>C (p.Lys1075Asn)
c.3186G>C (p.Lys1062Asn)
n.4222G>C
18g.10762581C>TCA502900421PIEZO2c.3168G>A (p.Lys1056=)
n.3225G>A
c.3093G>A (p.Lys1031=)
c.2946G>A (p.Lys982=)
c.3135G>A (p.Lys1045=)
c.3225G>A (p.Lys1075=)
c.3186G>A (p.Lys1062=)
n.4222G>A
18g.10762582T>ACA401923665PIEZO2c.3167A>T (p.Lys1056Met)
n.3224A>T
c.3092A>T (p.Lys1031Met)
c.2945A>T (p.Lys982Met)
c.3134A>T (p.Lys1045Met)
c.3224A>T (p.Lys1075Met)
c.3185A>T (p.Lys1062Met)
n.4221A>T
18g.10762582T>CCA296032357PIEZO2c.3167A>G (p.Lys1056Arg)
n.3224A>G
c.3092A>G (p.Lys1031Arg)
c.2945A>G (p.Lys982Arg)
c.3134A>G (p.Lys1045Arg)
c.3224A>G (p.Lys1075Arg)
c.3185A>G (p.Lys1062Arg)
n.4221A>G
 dbSNP gnomAD v2 gnomAD v4
18g.10762582T>GCA401923666PIEZO2c.3167A>C (p.Lys1056Thr)
n.3224A>C
c.3092A>C (p.Lys1031Thr)
c.2945A>C (p.Lys982Thr)
c.3134A>C (p.Lys1045Thr)
c.3224A>C (p.Lys1075Thr)
c.3185A>C (p.Lys1062Thr)
n.4221A>C
18g.10762582T=CA2284452441PIEZO2c.3167A= (p.Lys1056=)
n.3224A=
c.3092A= (p.Lys1031=)
c.2945A= (p.Lys982=)
c.3134A= (p.Lys1045=)
c.3224A= (p.Lys1075=)
c.3185A= (p.Lys1062=)
n.4221A=
18g.10762583T>ACA401923667PIEZO2c.3166A>T (p.Lys1056Ter)
n.3223A>T
c.3091A>T (p.Lys1031Ter)
c.2944A>T (p.Lys982Ter)
c.3133A>T (p.Lys1045Ter)
c.3223A>T (p.Lys1075Ter)
c.3184A>T (p.Lys1062Ter)
n.4220A>T
18g.10762583T>CCA401923668PIEZO2c.3166A>G (p.Lys1056Glu)
n.3223A>G
c.3091A>G (p.Lys1031Glu)
c.2944A>G (p.Lys982Glu)
c.3133A>G (p.Lys1045Glu)
c.3223A>G (p.Lys1075Glu)
c.3184A>G (p.Lys1062Glu)
n.4220A>G
 dbSNP gnomAD v2
18g.10762583T>GCA401923669PIEZO2c.3166A>C (p.Lys1056Gln)
n.3223A>C
c.3091A>C (p.Lys1031Gln)
c.2944A>C (p.Lys982Gln)
c.3133A>C (p.Lys1045Gln)
c.3223A>C (p.Lys1075Gln)
c.3184A>C (p.Lys1062Gln)
n.4220A>C
18g.10762583T=CA2284452442PIEZO2c.3166A= (p.Lys1056=)
n.3223A=
c.3091A= (p.Lys1031=)
c.2944A= (p.Lys982=)
c.3133A= (p.Lys1045=)
c.3223A= (p.Lys1075=)
c.3184A= (p.Lys1062=)
n.4220A=
18g.10762584G>ACA502900457PIEZO2c.3165C>T (p.Asn1055=)
n.3222C>T
c.3090C>T (p.Asn1030=)
c.2943C>T (p.Asn981=)
c.3132C>T (p.Asn1044=)
c.3222C>T (p.Asn1074=)
c.3183C>T (p.Asn1061=)
n.4219C>T
18g.10762584G>CCA401923670PIEZO2c.3165C>G (p.Asn1055Lys)
n.3222C>G
c.3090C>G (p.Asn1030Lys)
c.2943C>G (p.Asn981Lys)
c.3132C>G (p.Asn1044Lys)
c.3222C>G (p.Asn1074Lys)
c.3183C>G (p.Asn1061Lys)
n.4219C>G
 dbSNP gnomAD v2 gnomAD v4
18g.10762584G=CA2284452443PIEZO2c.3165C= (p.Asn1055=)
n.3222C=
c.3090C= (p.Asn1030=)
c.2943C= (p.Asn981=)
c.3132C= (p.Asn1044=)
c.3222C= (p.Asn1074=)
c.3183C= (p.Asn1061=)
n.4219C=
18g.10762584G>TCA401923671PIEZO2c.3165C>A (p.Asn1055Lys)
n.3222C>A
c.3090C>A (p.Asn1030Lys)
c.2943C>A (p.Asn981Lys)
c.3132C>A (p.Asn1044Lys)
c.3222C>A (p.Asn1074Lys)
c.3183C>A (p.Asn1061Lys)
n.4219C>A
18g.10762585T>ACA401923672PIEZO2c.3164A>T (p.Asn1055Ile)
n.3221A>T
c.3089A>T (p.Asn1030Ile)
c.2942A>T (p.Asn981Ile)
c.3131A>T (p.Asn1044Ile)
c.3221A>T (p.Asn1074Ile)
c.3182A>T (p.Asn1061Ile)
n.4218A>T
18g.10762585T>CCA401923673PIEZO2c.3164A>G (p.Asn1055Ser)
n.3221A>G
c.3089A>G (p.Asn1030Ser)
c.2942A>G (p.Asn981Ser)
c.3131A>G (p.Asn1044Ser)
c.3221A>G (p.Asn1074Ser)
c.3182A>G (p.Asn1061Ser)
n.4218A>G
 dbSNP
18g.10762585T>GCA401923674PIEZO2c.3164A>C (p.Asn1055Thr)
n.3221A>C
c.3089A>C (p.Asn1030Thr)
c.2942A>C (p.Asn981Thr)
c.3131A>C (p.Asn1044Thr)
c.3221A>C (p.Asn1074Thr)
c.3182A>C (p.Asn1061Thr)
n.4218A>C
18g.10762585T=CA2284452444PIEZO2c.3164A= (p.Asn1055=)
n.3221A=
c.3089A= (p.Asn1030=)
c.2942A= (p.Asn981=)
c.3131A= (p.Asn1044=)
c.3221A= (p.Asn1074=)
c.3182A= (p.Asn1061=)
n.4218A=
18g.10762586T>ACA401923675PIEZO2c.3163A>T (p.Asn1055Tyr)
n.3220A>T
c.3088A>T (p.Asn1030Tyr)
c.2941A>T (p.Asn981Tyr)
c.3130A>T (p.Asn1044Tyr)
c.3220A>T (p.Asn1074Tyr)
c.3181A>T (p.Asn1061Tyr)
n.4217A>T
18g.10762586T>CCA401923676PIEZO2c.3163A>G (p.Asn1055Asp)
n.3220A>G
c.3088A>G (p.Asn1030Asp)
c.2941A>G (p.Asn981Asp)
c.3130A>G (p.Asn1044Asp)
c.3220A>G (p.Asn1074Asp)
c.3181A>G (p.Asn1061Asp)
n.4217A>G
 dbSNP gnomAD v2 gnomAD v4
18g.10762586T>GCA401923677PIEZO2c.3163A>C (p.Asn1055His)
n.3220A>C
c.3088A>C (p.Asn1030His)
c.2941A>C (p.Asn981His)
c.3130A>C (p.Asn1044His)
c.3220A>C (p.Asn1074His)
c.3181A>C (p.Asn1061His)
n.4217A>C
18g.10762586T=CA2284452445PIEZO2c.3163A= (p.Asn1055=)
n.3220A=
c.3088A= (p.Asn1030=)
c.2941A= (p.Asn981=)
c.3130A= (p.Asn1044=)
c.3220A= (p.Asn1074=)
c.3181A= (p.Asn1061=)
n.4217A=
18g.10762587C>ACA401923678PIEZO2c.3162G>T (p.Leu1054Phe)
n.3219G>T
c.3087G>T (p.Leu1029Phe)
c.2940G>T (p.Leu980Phe)
c.3129G>T (p.Leu1043Phe)
c.3219G>T (p.Leu1073Phe)
c.3180G>T (p.Leu1060Phe)
n.4216G>T
 gnomAD v4
18g.10762587C=CA2284452446PIEZO2c.3162G= (p.Leu1054=)
n.3219G=
c.3087G= (p.Leu1029=)
c.2940G= (p.Leu980=)
c.3129G= (p.Leu1043=)
c.3219G= (p.Leu1073=)
c.3180G= (p.Leu1060=)
n.4216G=
18g.10762587C>GCA401923679PIEZO2c.3162G>C (p.Leu1054Phe)
n.3219G>C
c.3087G>C (p.Leu1029Phe)
c.2940G>C (p.Leu980Phe)
c.3129G>C (p.Leu1043Phe)
c.3219G>C (p.Leu1073Phe)
c.3180G>C (p.Leu1060Phe)
n.4216G>C
18g.10762587C>TCA502900460PIEZO2c.3162G>A (p.Leu1054=)
n.3219G>A
c.3087G>A (p.Leu1029=)
c.2940G>A (p.Leu980=)
c.3129G>A (p.Leu1043=)
c.3219G>A (p.Leu1073=)
c.3180G>A (p.Leu1060=)
n.4216G>A
 dbSNP gnomAD v4

Number of alleles fetched