Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.10762556C>A | CA296032323 | PIEZO2 | c.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 |
18 | g.10762556C= | CA2284452430 | PIEZO2 | c.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= | |
18 | g.10762556C>G | CA401923612 | PIEZO2 | c.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 |
18 | g.10762556C>T | CA8892577 | PIEZO2 | c.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 |
18 | g.10762557G>A | CA8892578 | PIEZO2 | c.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 |
18 | g.10762557G>C | CA401923613 | PIEZO2 | c.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 |
18 | g.10762557G= | CA2284452431 | PIEZO2 | c.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= | |
18 | g.10762557G>T | CA502900400 | PIEZO2 | c.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 |
18 | g.10762558A>C | CA401923614 | PIEZO2 | c.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 | |
18 | g.10762558A>G | CA401923615 | PIEZO2 | c.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 | |
18 | g.10762558A>T | CA401923616 | PIEZO2 | c.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 | |
18 | g.10762559T>A | CA401923617 | PIEZO2 | c.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 | |
18 | g.10762559T>C | CA401923618 | PIEZO2 | c.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 |
18 | g.10762559T>G | CA401923619 | PIEZO2 | c.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 |
18 | g.10762559T= | CA2284452432 | PIEZO2 | c.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= | |
18 | g.10762560A>C | CA502900404 | PIEZO2 | c.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 | |
18 | g.10762560A>G | CA502900403 | PIEZO2 | c.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 | |
18 | g.10762560A>T | CA502900401 | PIEZO2 | c.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 | |
18 | g.10762561G>A | CA401923622 | PIEZO2 | c.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 |
18 | g.10762561G>C | CA401923621 | PIEZO2 | c.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 |
18 | g.10762561G= | CA2284452433 | PIEZO2 | c.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= | |
18 | g.10762561G>T | CA401923620 | PIEZO2 | c.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 |
18 | g.10762562G>A | CA401923623 | PIEZO2 | c.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 | |
18 | g.10762562G>C | CA401923624 | PIEZO2 | c.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 | |
18 | g.10762562G>T | CA401923625 | PIEZO2 | c.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 | |
18 | g.10762563A>C | CA502900405 | PIEZO2 | c.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 | |
18 | g.10762563A>G | CA502900406 | PIEZO2 | c.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 | |
18 | g.10762563A>T | CA502900407 | PIEZO2 | c.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 | |
18 | g.10762564G>A | CA401923626 | PIEZO2 | c.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 |
18 | g.10762564G>C | CA401923627 | PIEZO2 | c.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 | |
18 | g.10762564G= | CA2284452434 | PIEZO2 | c.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= | |
18 | g.10762564G>T | CA401923628 | PIEZO2 | c.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 | |
18 | g.10762565C>A | CA401923629 | PIEZO2 | c.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 |
18 | g.10762565C= | CA2284452435 | PIEZO2 | c.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= | |
18 | g.10762565C>G | CA401923630 | PIEZO2 | c.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 | |
18 | g.10762565C>T | CA296032339 | PIEZO2 | c.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 |
18 | g.10762566G>A | CA502900409 | PIEZO2 | c.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 |
18 | g.10762566G>C | CA401923631 | PIEZO2 | c.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 | |
18 | g.10762566G= | CA2284452436 | PIEZO2 | c.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= | |
18 | g.10762566G>T | CA401923632 | PIEZO2 | c.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 |
18 | g.10762567C>A | CA401923635 | PIEZO2 | c.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 |
18 | g.10762567C= | CA2284452437 | PIEZO2 | c.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= | |
18 | g.10762567C>G | CA401923634 | PIEZO2 | c.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 | |
18 | g.10762567C>T | CA401923633 | PIEZO2 | c.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 |
18 | g.10762568T>A | CA401923636 | PIEZO2 | c.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 | |
18 | g.10762568T>C | CA401923637 | PIEZO2 | c.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 | |
18 | g.10762568T>G | CA401923638 | PIEZO2 | c.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 | |
18 | g.10762569G>A | CA502900410 | PIEZO2 | c.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 |
18 | g.10762569G>C | CA401923639 | PIEZO2 | c.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 | |
18 | g.10762569G= | CA2284452438 | PIEZO2 | c.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= | |
18 | g.10762569G>T | CA401923640 | PIEZO2 | c.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 |
18 | g.10762570T>A | CA401923643 | PIEZO2 | c.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 | |
18 | g.10762570T>C | CA401923642 | PIEZO2 | c.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 | |
18 | g.10762570T>G | CA401923641 | PIEZO2 | c.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 | |
18 | g.10762571A= | CA2284452439 | PIEZO2 | c.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= | |
18 | g.10762571A>C | CA401923644 | PIEZO2 | c.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 | |
18 | g.10762571A>G | CA296032344 | PIEZO2 | c.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 |
18 | g.10762571A>T | CA401923645 | PIEZO2 | c.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 | |
18 | g.10762572G>A | CA502900411 | PIEZO2 | c.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 | |
18 | g.10762572G>C | CA502900413 | PIEZO2 | c.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 |
18 | g.10762572G>T | CA502900412 | PIEZO2 | c.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 | |
18 | g.10762573A>C | CA401923646 | PIEZO2 | c.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 | |
18 | g.10762573A>G | CA401923647 | PIEZO2 | c.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 | |
18 | g.10762573A>T | CA401923648 | PIEZO2 | c.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 | |
18 | g.10762574G>A | CA401923649 | PIEZO2 | c.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 |
18 | g.10762574G>C | CA401923651 | PIEZO2 | c.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 | |
18 | g.10762574G>T | CA401923650 | PIEZO2 | c.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 |
18 | g.10762575C>A | CA502900414 | PIEZO2 | c.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 | |
18 | g.10762575C>G | CA502900415 | PIEZO2 | c.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 | |
18 | g.10762575C>T | CA502900416 | PIEZO2 | c.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 | |
18 | g.10762576del | CA2641014324 | PIEZO2 | c.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 |
18 | g.10762576A>C | CA401923652 | PIEZO2 | c.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 | |
18 | g.10762576A>G | CA401923653 | PIEZO2 | c.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 | |
18 | g.10762576A>T | CA401923654 | PIEZO2 | c.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 |
18 | g.10762577G>A | CA502900417 | PIEZO2 | c.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 | |
18 | g.10762577G>C | CA401923655 | PIEZO2 | c.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 | |
18 | g.10762577G>T | CA401923656 | PIEZO2 | c.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 | |
18 | g.10762578A= | CA2284452440 | PIEZO2 | c.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= | |
18 | g.10762578A>C | CA502900418 | PIEZO2 | c.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 | |
18 | g.10762578A>G | CA502900419 | PIEZO2 | c.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 |
18 | g.10762578A>T | CA502900420 | PIEZO2 | c.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 |
18 | g.10762579G>A | CA401923657 | PIEZO2 | c.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 | |
18 | g.10762579G>C | CA401923658 | PIEZO2 | c.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 |
18 | g.10762579G>T | CA401923659 | PIEZO2 | c.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 | |
18 | g.10762580A>C | CA401923660 | PIEZO2 | c.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 | |
18 | g.10762580A>G | CA401923661 | PIEZO2 | c.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 | |
18 | g.10762580A>T | CA401923662 | PIEZO2 | c.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 | |
18 | g.10762581C>A | CA401923663 | PIEZO2 | c.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 | |
18 | g.10762581C>G | CA401923664 | PIEZO2 | c.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 | |
18 | g.10762581C>T | CA502900421 | PIEZO2 | c.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 | |
18 | g.10762582T>A | CA401923665 | PIEZO2 | c.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 | |
18 | g.10762582T>C | CA296032357 | PIEZO2 | c.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 |
18 | g.10762582T>G | CA401923666 | PIEZO2 | c.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 | |
18 | g.10762582T= | CA2284452441 | PIEZO2 | c.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= | |
18 | g.10762583T>A | CA401923667 | PIEZO2 | c.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 | |
18 | g.10762583T>C | CA401923668 | PIEZO2 | c.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 |
18 | g.10762583T>G | CA401923669 | PIEZO2 | c.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 | |
18 | g.10762583T= | CA2284452442 | PIEZO2 | c.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= | |
18 | g.10762584G>A | CA502900457 | PIEZO2 | c.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 | |
18 | g.10762584G>C | CA401923670 | PIEZO2 | c.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 |
18 | g.10762584G= | CA2284452443 | PIEZO2 | c.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= | |
18 | g.10762584G>T | CA401923671 | PIEZO2 | c.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 | |
18 | g.10762585T>A | CA401923672 | PIEZO2 | c.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 | |
18 | g.10762585T>C | CA401923673 | PIEZO2 | c.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 |
18 | g.10762585T>G | CA401923674 | PIEZO2 | c.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 | |
18 | g.10762585T= | CA2284452444 | PIEZO2 | c.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= | |
18 | g.10762586T>A | CA401923675 | PIEZO2 | c.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 | |
18 | g.10762586T>C | CA401923676 | PIEZO2 | c.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 |
18 | g.10762586T>G | CA401923677 | PIEZO2 | c.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 | |
18 | g.10762586T= | CA2284452445 | PIEZO2 | c.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= | |
18 | g.10762587C>A | CA401923678 | PIEZO2 | c.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 |
18 | g.10762587C= | CA2284452446 | PIEZO2 | c.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= | |
18 | g.10762587C>G | CA401923679 | PIEZO2 | c.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 | |
18 | g.10762587C>T | CA502900460 | PIEZO2 | c.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 |
18 | g.10762588A>C | CA401923680 | PIEZO2 | c.3161T>G (p.Leu1054Trp) n.3218T>G c.3086T>G (p.Leu1029Trp) c.2939T>G (p.Leu980Trp) c.3128T>G (p.Leu1043Trp) c.3218T>G (p.Leu1073Trp) c.3179T>G (p.Leu1060Trp) n.4215T>G | |
18 | g.10762588A>G | CA401923682 | PIEZO2 | c.3161T>C (p.Leu1054Ser) n.3218T>C c.3086T>C (p.Leu1029Ser) c.2939T>C (p.Leu980Ser) c.3128T>C (p.Leu1043Ser) c.3218T>C (p.Leu1073Ser) c.3179T>C (p.Leu1060Ser) n.4215T>C | |
18 | g.10762588A>T | CA401923681 | PIEZO2 | c.3161T>A (p.Leu1054Ter) n.3218T>A c.3086T>A (p.Leu1029Ter) c.2939T>A (p.Leu980Ter) c.3128T>A (p.Leu1043Ter) c.3218T>A (p.Leu1073Ter) c.3179T>A (p.Leu1060Ter) n.4215T>A | |
18 | g.10762589A= | CA2284452447 | PIEZO2 | c.3160T= (p.Leu1054=) n.3217T= c.3085T= (p.Leu1029=) c.2938T= (p.Leu980=) c.3127T= (p.Leu1043=) c.3217T= (p.Leu1073=) c.3178T= (p.Leu1060=) n.4214T= | |
18 | g.10762589A>C | CA401923683 | PIEZO2 | c.3160T>G (p.Leu1054Val) n.3217T>G c.3085T>G (p.Leu1029Val) c.2938T>G (p.Leu980Val) c.3127T>G (p.Leu1043Val) c.3217T>G (p.Leu1073Val) c.3178T>G (p.Leu1060Val) n.4214T>G | |
18 | g.10762589A>G | CA296032361 | PIEZO2 | c.3160T>C (p.Leu1054=) n.3217T>C c.3085T>C (p.Leu1029=) c.2938T>C (p.Leu980=) c.3127T>C (p.Leu1043=) c.3217T>C (p.Leu1073=) c.3178T>C (p.Leu1060=) n.4214T>C | dbSNP gnomAD v4 |
18 | g.10762589A>T | CA401923684 | PIEZO2 | c.3160T>A (p.Leu1054Met) n.3217T>A c.3085T>A (p.Leu1029Met) c.2938T>A (p.Leu980Met) c.3127T>A (p.Leu1043Met) c.3217T>A (p.Leu1073Met) c.3178T>A (p.Leu1060Met) n.4214T>A | |
18 | g.10762590C>A | CA401923685 | PIEZO2 | c.3159G>T (p.Glu1053Asp) n.3216G>T c.3084G>T (p.Glu1028Asp) c.2937G>T (p.Glu979Asp) c.3126G>T (p.Glu1042Asp) c.3216G>T (p.Glu1072Asp) c.3177G>T (p.Glu1059Asp) n.4213G>T | dbSNP gnomAD v4 |
18 | g.10762590C= | CA2284452448 | PIEZO2 | c.3159G= (p.Glu1053=) n.3216G= c.3084G= (p.Glu1028=) c.2937G= (p.Glu979=) c.3126G= (p.Glu1042=) c.3216G= (p.Glu1072=) c.3177G= (p.Glu1059=) n.4213G= | |
18 | g.10762590C>G | CA401923686 | PIEZO2 | c.3159G>C (p.Glu1053Asp) n.3216G>C c.3084G>C (p.Glu1028Asp) c.2937G>C (p.Glu979Asp) c.3126G>C (p.Glu1042Asp) c.3216G>C (p.Glu1072Asp) c.3177G>C (p.Glu1059Asp) n.4213G>C | |
18 | g.10762590C>T | CA502900462 | PIEZO2 | c.3159G>A (p.Glu1053=) n.3216G>A c.3084G>A (p.Glu1028=) c.2937G>A (p.Glu979=) c.3126G>A (p.Glu1042=) c.3216G>A (p.Glu1072=) c.3177G>A (p.Glu1059=) n.4213G>A | dbSNP gnomAD v2 gnomAD v4 |
18 | g.10762591T>A | CA401923687 | PIEZO2 | c.3158A>T (p.Glu1053Val) n.3215A>T c.3083A>T (p.Glu1028Val) c.2936A>T (p.Glu979Val) c.3125A>T (p.Glu1042Val) c.3215A>T (p.Glu1072Val) c.3176A>T (p.Glu1059Val) n.4212A>T | |
18 | g.10762591T>C | CA401923688 | PIEZO2 | c.3158A>G (p.Glu1053Gly) n.3215A>G c.3083A>G (p.Glu1028Gly) c.2936A>G (p.Glu979Gly) c.3125A>G (p.Glu1042Gly) c.3215A>G (p.Glu1072Gly) c.3176A>G (p.Glu1059Gly) n.4212A>G | |
18 | g.10762591T>G | CA401923689 | PIEZO2 | c.3158A>C (p.Glu1053Ala) n.3215A>C c.3083A>C (p.Glu1028Ala) c.2936A>C (p.Glu979Ala) c.3125A>C (p.Glu1042Ala) c.3215A>C (p.Glu1072Ala) c.3176A>C (p.Glu1059Ala) n.4212A>C | |
18 | g.10762592C>A | CA401923690 | PIEZO2 | c.3157G>T (p.Glu1053Ter) n.3214G>T c.3082G>T (p.Glu1028Ter) c.2935G>T (p.Glu979Ter) c.3124G>T (p.Glu1042Ter) c.3214G>T (p.Glu1072Ter) c.3175G>T (p.Glu1059Ter) n.4211G>T | ClinVar gnomAD v4 |
18 | g.10762592C>G | CA401923691 | PIEZO2 | c.3157G>C (p.Glu1053Gln) n.3214G>C c.3082G>C (p.Glu1028Gln) c.2935G>C (p.Glu979Gln) c.3124G>C (p.Glu1042Gln) c.3214G>C (p.Glu1072Gln) c.3175G>C (p.Glu1059Gln) n.4211G>C | |
18 | g.10762592C>T | CA401923692 | PIEZO2 | c.3157G>A (p.Glu1053Lys) n.3214G>A c.3082G>A (p.Glu1028Lys) c.2935G>A (p.Glu979Lys) c.3124G>A (p.Glu1042Lys) c.3214G>A (p.Glu1072Lys) c.3175G>A (p.Glu1059Lys) n.4211G>A | |
18 | g.10762593A= | CA2284452449 | PIEZO2 | c.3156T= (p.Asn1052=) n.3213T= c.3081T= (p.Asn1027=) c.2934T= (p.Asn978=) c.3123T= (p.Asn1041=) c.3213T= (p.Asn1071=) c.3174T= (p.Asn1058=) n.4210T= | |
18 | g.10762593A>C | CA296032386 | PIEZO2 | c.3156T>G (p.Asn1052Lys) n.3213T>G c.3081T>G (p.Asn1027Lys) c.2934T>G (p.Asn978Lys) c.3123T>G (p.Asn1041Lys) c.3213T>G (p.Asn1071Lys) c.3174T>G (p.Asn1058Lys) n.4210T>G | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10762593A>G | CA502900468 | PIEZO2 | c.3156T>C (p.Asn1052=) n.3213T>C c.3081T>C (p.Asn1027=) c.2934T>C (p.Asn978=) c.3123T>C (p.Asn1041=) c.3213T>C (p.Asn1071=) c.3174T>C (p.Asn1058=) n.4210T>C | |
18 | g.10762593A>T | CA401923693 | PIEZO2 | c.3156T>A (p.Asn1052Lys) n.3213T>A c.3081T>A (p.Asn1027Lys) c.2934T>A (p.Asn978Lys) c.3123T>A (p.Asn1041Lys) c.3213T>A (p.Asn1071Lys) c.3174T>A (p.Asn1058Lys) n.4210T>A | gnomAD v4 |
18 | g.10762594T>A | CA401923694 | PIEZO2 | c.3155A>T (p.Asn1052Ile) n.3212A>T c.3080A>T (p.Asn1027Ile) c.2933A>T (p.Asn978Ile) c.3122A>T (p.Asn1041Ile) c.3212A>T (p.Asn1071Ile) c.3173A>T (p.Asn1058Ile) n.4209A>T | |
18 | g.10762594T>C | CA401923695 | PIEZO2 | c.3155A>G (p.Asn1052Ser) n.3212A>G c.3080A>G (p.Asn1027Ser) c.2933A>G (p.Asn978Ser) c.3122A>G (p.Asn1041Ser) c.3212A>G (p.Asn1071Ser) c.3173A>G (p.Asn1058Ser) n.4209A>G | |
18 | g.10762594T>G | CA401923697 | PIEZO2 | c.3155A>C (p.Asn1052Thr) n.3212A>C c.3080A>C (p.Asn1027Thr) c.2933A>C (p.Asn978Thr) c.3122A>C (p.Asn1041Thr) c.3212A>C (p.Asn1071Thr) c.3173A>C (p.Asn1058Thr) n.4209A>C | |
18 | g.10762595T>A | CA401923700 | PIEZO2 | c.3154A>T (p.Asn1052Tyr) n.3211A>T c.3079A>T (p.Asn1027Tyr) c.2932A>T (p.Asn978Tyr) c.3121A>T (p.Asn1041Tyr) c.3211A>T (p.Asn1071Tyr) c.3172A>T (p.Asn1058Tyr) n.4208A>T | |
18 | g.10762595T>C | CA401923701 | PIEZO2 | c.3154A>G (p.Asn1052Asp) n.3211A>G c.3079A>G (p.Asn1027Asp) c.2932A>G (p.Asn978Asp) c.3121A>G (p.Asn1041Asp) c.3211A>G (p.Asn1071Asp) c.3172A>G (p.Asn1058Asp) n.4208A>G | |
18 | g.10762595T>G | CA401923703 | PIEZO2 | c.3154A>C (p.Asn1052His) n.3211A>C c.3079A>C (p.Asn1027His) c.2932A>C (p.Asn978His) c.3121A>C (p.Asn1041His) c.3211A>C (p.Asn1071His) c.3172A>C (p.Asn1058His) n.4208A>C | |
18 | g.10762596A>C | CA401923708 | PIEZO2 | c.3153T>G (p.Phe1051Leu) n.3210T>G c.3078T>G (p.Phe1026Leu) c.2931T>G (p.Phe977Leu) c.3120T>G (p.Phe1040Leu) c.3210T>G (p.Phe1070Leu) c.3171T>G (p.Phe1057Leu) n.4207T>G | |
18 | g.10762596A>G | CA502900470 | PIEZO2 | c.3153T>C (p.Phe1051=) n.3210T>C c.3078T>C (p.Phe1026=) c.2931T>C (p.Phe977=) c.3120T>C (p.Phe1040=) c.3210T>C (p.Phe1070=) c.3171T>C (p.Phe1057=) n.4207T>C | gnomAD v4 |
18 | g.10762596A>T | CA401923706 | PIEZO2 | c.3153T>A (p.Phe1051Leu) n.3210T>A c.3078T>A (p.Phe1026Leu) c.2931T>A (p.Phe977Leu) c.3120T>A (p.Phe1040Leu) c.3210T>A (p.Phe1070Leu) c.3171T>A (p.Phe1057Leu) n.4207T>A | |
18 | g.10762597A>C | CA401923709 | PIEZO2 | c.3152T>G (p.Phe1051Cys) n.3209T>G c.3077T>G (p.Phe1026Cys) c.2930T>G (p.Phe977Cys) c.3119T>G (p.Phe1040Cys) c.3209T>G (p.Phe1070Cys) c.3170T>G (p.Phe1057Cys) n.4206T>G | |
18 | g.10762597A>G | CA401923710 | PIEZO2 | c.3152T>C (p.Phe1051Ser) n.3209T>C c.3077T>C (p.Phe1026Ser) c.2930T>C (p.Phe977Ser) c.3119T>C (p.Phe1040Ser) c.3209T>C (p.Phe1070Ser) c.3170T>C (p.Phe1057Ser) n.4206T>C | |
18 | g.10762597A>T | CA401923711 | PIEZO2 | c.3152T>A (p.Phe1051Tyr) n.3209T>A c.3077T>A (p.Phe1026Tyr) c.2930T>A (p.Phe977Tyr) c.3119T>A (p.Phe1040Tyr) c.3209T>A (p.Phe1070Tyr) c.3170T>A (p.Phe1057Tyr) n.4206T>A | |
18 | g.10762598A>C | CA401923712 | PIEZO2 | c.3151T>G (p.Phe1051Val) n.3208T>G c.3076T>G (p.Phe1026Val) c.2929T>G (p.Phe977Val) c.3118T>G (p.Phe1040Val) c.3208T>G (p.Phe1070Val) c.3169T>G (p.Phe1057Val) n.4205T>G | |
18 | g.10762598A>G | CA401923713 | PIEZO2 | c.3151T>C (p.Phe1051Leu) n.3208T>C c.3076T>C (p.Phe1026Leu) c.2929T>C (p.Phe977Leu) c.3118T>C (p.Phe1040Leu) c.3208T>C (p.Phe1070Leu) c.3169T>C (p.Phe1057Leu) n.4205T>C | |
18 | g.10762598A>T | CA401923715 | PIEZO2 | c.3151T>A (p.Phe1051Ile) n.3208T>A c.3076T>A (p.Phe1026Ile) c.2929T>A (p.Phe977Ile) c.3118T>A (p.Phe1040Ile) c.3208T>A (p.Phe1070Ile) c.3169T>A (p.Phe1057Ile) n.4205T>A | |
18 | g.10762599G>A | CA502900473 | PIEZO2 | c.3150C>T (p.Pro1050=) n.3207C>T c.3075C>T (p.Pro1025=) c.2928C>T (p.Pro976=) c.3117C>T (p.Pro1039=) c.3207C>T (p.Pro1069=) c.3168C>T (p.Pro1056=) n.4204C>T | |
18 | g.10762599G>C | CA502900475 | PIEZO2 | c.3150C>G (p.Pro1050=) n.3207C>G c.3075C>G (p.Pro1025=) c.2928C>G (p.Pro976=) c.3117C>G (p.Pro1039=) c.3207C>G (p.Pro1069=) c.3168C>G (p.Pro1056=) n.4204C>G | gnomAD v4 |
18 | g.10762599G>T | CA502900477 | PIEZO2 | c.3150C>A (p.Pro1050=) n.3207C>A c.3075C>A (p.Pro1025=) c.2928C>A (p.Pro976=) c.3117C>A (p.Pro1039=) c.3207C>A (p.Pro1069=) c.3168C>A (p.Pro1056=) n.4204C>A | |
18 | g.10762600G>A | CA401923716 | PIEZO2 | c.3149C>T (p.Pro1050Leu) n.3206C>T c.3074C>T (p.Pro1025Leu) c.2927C>T (p.Pro976Leu) c.3116C>T (p.Pro1039Leu) c.3206C>T (p.Pro1069Leu) c.3167C>T (p.Pro1056Leu) n.4203C>T | gnomAD v4 |
18 | g.10762600G>C | CA296032395 | PIEZO2 | c.3149C>G (p.Pro1050Arg) n.3206C>G c.3074C>G (p.Pro1025Arg) c.2927C>G (p.Pro976Arg) c.3116C>G (p.Pro1039Arg) c.3206C>G (p.Pro1069Arg) c.3167C>G (p.Pro1056Arg) n.4203C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10762600G= | CA2284452450 | PIEZO2 | c.3149C= (p.Pro1050=) n.3206C= c.3074C= (p.Pro1025=) c.2927C= (p.Pro976=) c.3116C= (p.Pro1039=) c.3206C= (p.Pro1069=) c.3167C= (p.Pro1056=) n.4203C= | |
18 | g.10762600G>T | CA401923718 | PIEZO2 | c.3149C>A (p.Pro1050His) n.3206C>A c.3074C>A (p.Pro1025His) c.2927C>A (p.Pro976His) c.3116C>A (p.Pro1039His) c.3206C>A (p.Pro1069His) c.3167C>A (p.Pro1056His) n.4203C>A | |
18 | g.10762601G>A | CA401923721 | PIEZO2 | c.3148C>T (p.Pro1050Ser) n.3205C>T c.3073C>T (p.Pro1025Ser) c.2926C>T (p.Pro976Ser) c.3115C>T (p.Pro1039Ser) c.3205C>T (p.Pro1069Ser) c.3166C>T (p.Pro1056Ser) n.4202C>T | |
18 | g.10762601G>C | CA401923723 | PIEZO2 | c.3148C>G (p.Pro1050Ala) n.3205C>G c.3073C>G (p.Pro1025Ala) c.2926C>G (p.Pro976Ala) c.3115C>G (p.Pro1039Ala) c.3205C>G (p.Pro1069Ala) c.3166C>G (p.Pro1056Ala) n.4202C>G | |
18 | g.10762601G>T | CA401923725 | PIEZO2 | c.3148C>A (p.Pro1050Thr) n.3205C>A c.3073C>A (p.Pro1025Thr) c.2926C>A (p.Pro976Thr) c.3115C>A (p.Pro1039Thr) c.3205C>A (p.Pro1069Thr) c.3166C>A (p.Pro1056Thr) n.4202C>A | |
18 | g.10762602G>A | CA502900480 | PIEZO2 | c.3147C>T (p.Ile1049=) n.3204C>T c.3072C>T (p.Ile1024=) c.2925C>T (p.Ile975=) c.3114C>T (p.Ile1038=) c.3204C>T (p.Ile1068=) c.3165C>T (p.Ile1055=) n.4201C>T | gnomAD v4 |
18 | g.10762602G>C | CA401923727 | PIEZO2 | c.3147C>G (p.Ile1049Met) n.3204C>G c.3072C>G (p.Ile1024Met) c.2925C>G (p.Ile975Met) c.3114C>G (p.Ile1038Met) c.3204C>G (p.Ile1068Met) c.3165C>G (p.Ile1055Met) n.4201C>G | |
18 | g.10762602G>T | CA502900479 | PIEZO2 | c.3147C>A (p.Ile1049=) n.3204C>A c.3072C>A (p.Ile1024=) c.2925C>A (p.Ile975=) c.3114C>A (p.Ile1038=) c.3204C>A (p.Ile1068=) c.3165C>A (p.Ile1055=) n.4201C>A | gnomAD v4 |
18 | g.10762603A>C | CA401923729 | PIEZO2 | c.3146T>G (p.Ile1049Ser) n.3203T>G c.3071T>G (p.Ile1024Ser) c.2924T>G (p.Ile975Ser) c.3113T>G (p.Ile1038Ser) c.3203T>G (p.Ile1068Ser) c.3164T>G (p.Ile1055Ser) n.4200T>G | |
18 | g.10762603A>G | CA401923731 | PIEZO2 | c.3146T>C (p.Ile1049Thr) n.3203T>C c.3071T>C (p.Ile1024Thr) c.2924T>C (p.Ile975Thr) c.3113T>C (p.Ile1038Thr) c.3203T>C (p.Ile1068Thr) c.3164T>C (p.Ile1055Thr) n.4200T>C | |
18 | g.10762603A>T | CA401923733 | PIEZO2 | c.3146T>A (p.Ile1049Asn) n.3203T>A c.3071T>A (p.Ile1024Asn) c.2924T>A (p.Ile975Asn) c.3113T>A (p.Ile1038Asn) c.3203T>A (p.Ile1068Asn) c.3164T>A (p.Ile1055Asn) n.4200T>A | |
18 | g.10762603_10762607delinsATGTT | CA2284452451 | PIEZO2 | c.3142_3146delinsAACAT (p.Asn1048=) n.3199_3203delinsAACAT c.3067_3071delinsAACAT (p.Asn1023=) c.2920_2924delinsAACAT (p.Asn974=) c.3109_3113delinsAACAT (p.Asn1037=) c.3199_3203delinsAACAT (p.Asn1067=) c.3160_3164delinsAACAT (p.Asn1054=) n.4196_4200delinsAACAT | |
18 | g.10762604T>A | CA401923735 | PIEZO2 | c.3145A>T (p.Ile1049Phe) n.3202A>T c.3070A>T (p.Ile1024Phe) c.2923A>T (p.Ile975Phe) c.3112A>T (p.Ile1038Phe) c.3202A>T (p.Ile1068Phe) c.3163A>T (p.Ile1055Phe) n.4199A>T | |
18 | g.10762604T>C | CA401923736 | PIEZO2 | c.3145A>G (p.Ile1049Val) n.3202A>G c.3070A>G (p.Ile1024Val) c.2923A>G (p.Ile975Val) c.3112A>G (p.Ile1038Val) c.3202A>G (p.Ile1068Val) c.3163A>G (p.Ile1055Val) n.4199A>G | dbSNP |
18 | g.10762604T>G | CA401923738 | PIEZO2 | c.3145A>C (p.Ile1049Leu) n.3202A>C c.3070A>C (p.Ile1024Leu) c.2923A>C (p.Ile975Leu) c.3112A>C (p.Ile1038Leu) c.3202A>C (p.Ile1068Leu) c.3163A>C (p.Ile1055Leu) n.4199A>C | |
18 | g.10762604T= | CA2284452452 | PIEZO2 | c.3145A= (p.Ile1049=) n.3202A= c.3070A= (p.Ile1024=) c.2923A= (p.Ile975=) c.3112A= (p.Ile1038=) c.3202A= (p.Ile1068=) c.3163A= (p.Ile1055=) n.4199A= | |
18 | g.10762610_10762613del | CA628486162 | PIEZO2 | c.3142_3145del (p.Asn1048SerfsTer6) n.3199_3202del c.3067_3070del (p.Asn1023SerfsTer6) c.2920_2923del (p.Asn974SerfsTer6) c.3109_3112del (p.Asn1037SerfsTer6) c.3199_3202del (p.Asn1067SerfsTer6) c.3160_3163del (p.Asn1054SerfsTer6) n.4196_4199del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10762605G>A | CA502900484 | PIEZO2 | c.3144C>T (p.Asn1048=) n.3201C>T c.3069C>T (p.Asn1023=) c.2922C>T (p.Asn974=) c.3111C>T (p.Asn1037=) c.3201C>T (p.Asn1067=) c.3162C>T (p.Asn1054=) n.4198C>T | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10762605G>C | CA401923740 | PIEZO2 | c.3144C>G (p.Asn1048Lys) n.3201C>G c.3069C>G (p.Asn1023Lys) c.2922C>G (p.Asn974Lys) c.3111C>G (p.Asn1037Lys) c.3201C>G (p.Asn1067Lys) c.3162C>G (p.Asn1054Lys) n.4198C>G | |
18 | g.10762605G= | CA2284452453 | PIEZO2 | c.3144C= (p.Asn1048=) n.3201C= c.3069C= (p.Asn1023=) c.2922C= (p.Asn974=) c.3111C= (p.Asn1037=) c.3201C= (p.Asn1067=) c.3162C= (p.Asn1054=) n.4198C= | |
18 | g.10762605G>T | CA401923742 | PIEZO2 | c.3144C>A (p.Asn1048Lys) n.3201C>A c.3069C>A (p.Asn1023Lys) c.2922C>A (p.Asn974Lys) c.3111C>A (p.Asn1037Lys) c.3201C>A (p.Asn1067Lys) c.3162C>A (p.Asn1054Lys) n.4198C>A | |
18 | g.10762606T>A | CA401923746 | PIEZO2 | c.3143A>T (p.Asn1048Ile) n.3200A>T c.3068A>T (p.Asn1023Ile) c.2921A>T (p.Asn974Ile) c.3110A>T (p.Asn1037Ile) c.3200A>T (p.Asn1067Ile) c.3161A>T (p.Asn1054Ile) n.4197A>T | |
18 | g.10762606T>C | CA8892579 | PIEZO2 | c.3143A>G (p.Asn1048Ser) n.3200A>G c.3068A>G (p.Asn1023Ser) c.2921A>G (p.Asn974Ser) c.3110A>G (p.Asn1037Ser) c.3200A>G (p.Asn1067Ser) c.3161A>G (p.Asn1054Ser) n.4197A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.10762606T>G | CA401923744 | PIEZO2 | c.3143A>C (p.Asn1048Thr) n.3200A>C c.3068A>C (p.Asn1023Thr) c.2921A>C (p.Asn974Thr) c.3110A>C (p.Asn1037Thr) c.3200A>C (p.Asn1067Thr) c.3161A>C (p.Asn1054Thr) n.4197A>C | |
18 | g.10762606T= | CA2284452454 | PIEZO2 | c.3143A= (p.Asn1048=) n.3200A= c.3068A= (p.Asn1023=) c.2921A= (p.Asn974=) c.3110A= (p.Asn1037=) c.3200A= (p.Asn1067=) c.3161A= (p.Asn1054=) n.4197A= | |
18 | g.10762607T>A | CA401923748 | PIEZO2 | c.3142A>T (p.Asn1048Tyr) n.3199A>T c.3067A>T (p.Asn1023Tyr) c.2920A>T (p.Asn974Tyr) c.3109A>T (p.Asn1037Tyr) c.3199A>T (p.Asn1067Tyr) c.3160A>T (p.Asn1054Tyr) n.4196A>T | |
18 | g.10762607T>C | CA401923752 | PIEZO2 | c.3142A>G (p.Asn1048Asp) n.3199A>G c.3067A>G (p.Asn1023Asp) c.2920A>G (p.Asn974Asp) c.3109A>G (p.Asn1037Asp) c.3199A>G (p.Asn1067Asp) c.3160A>G (p.Asn1054Asp) n.4196A>G | |
18 | g.10762607T>G | CA401923750 | PIEZO2 | c.3142A>C (p.Asn1048His) n.3199A>C c.3067A>C (p.Asn1023His) c.2920A>C (p.Asn974His) c.3109A>C (p.Asn1037His) c.3199A>C (p.Asn1067His) c.3160A>C (p.Asn1054His) n.4196A>C | |
18 | g.10762608T>A | CA502900486 | PIEZO2 | c.3141A>T (p.Thr1047=) n.3198A>T c.3066A>T (p.Thr1022=) c.2919A>T (p.Thr973=) c.3108A>T (p.Thr1036=) c.3198A>T (p.Thr1066=) c.3159A>T (p.Thr1053=) n.4195A>T | |
18 | g.10762608T>C | CA502900488 | PIEZO2 | c.3141A>G (p.Thr1047=) n.3198A>G c.3066A>G (p.Thr1022=) c.2919A>G (p.Thr973=) c.3108A>G (p.Thr1036=) c.3198A>G (p.Thr1066=) c.3159A>G (p.Thr1053=) n.4195A>G | |
18 | g.10762608T>G | CA502900487 | PIEZO2 | c.3141A>C (p.Thr1047=) n.3198A>C c.3066A>C (p.Thr1022=) c.2919A>C (p.Thr973=) c.3108A>C (p.Thr1036=) c.3198A>C (p.Thr1066=) c.3159A>C (p.Thr1053=) n.4195A>C | |
18 | g.10762609G>A | CA401923754 | PIEZO2 | c.3140C>T (p.Thr1047Ile) n.3197C>T c.3065C>T (p.Thr1022Ile) c.2918C>T (p.Thr973Ile) c.3107C>T (p.Thr1036Ile) c.3197C>T (p.Thr1066Ile) c.3158C>T (p.Thr1053Ile) n.4194C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10762609G>C | CA401923758 | PIEZO2 | c.3140C>G (p.Thr1047Arg) n.3197C>G c.3065C>G (p.Thr1022Arg) c.2918C>G (p.Thr973Arg) c.3107C>G (p.Thr1036Arg) c.3197C>G (p.Thr1066Arg) c.3158C>G (p.Thr1053Arg) n.4194C>G | |
18 | g.10762609G= | CA2284452455 | PIEZO2 | c.3140C= (p.Thr1047=) n.3197C= c.3065C= (p.Thr1022=) c.2918C= (p.Thr973=) c.3107C= (p.Thr1036=) c.3197C= (p.Thr1066=) c.3158C= (p.Thr1053=) n.4194C= | |
18 | g.10762609G>T | CA401923756 | PIEZO2 | c.3140C>A (p.Thr1047Lys) n.3197C>A c.3065C>A (p.Thr1022Lys) c.2918C>A (p.Thr973Lys) c.3107C>A (p.Thr1036Lys) c.3197C>A (p.Thr1066Lys) c.3158C>A (p.Thr1053Lys) n.4194C>A | |
18 | g.10762610T>A | CA401923760 | PIEZO2 | c.3139A>T (p.Thr1047Ser) n.3196A>T c.3064A>T (p.Thr1022Ser) c.2917A>T (p.Thr973Ser) c.3106A>T (p.Thr1036Ser) c.3196A>T (p.Thr1066Ser) c.3157A>T (p.Thr1053Ser) n.4193A>T | |
18 | g.10762610T>C | CA296032409 | PIEZO2 | c.3139A>G (p.Thr1047Ala) n.3196A>G c.3064A>G (p.Thr1022Ala) c.2917A>G (p.Thr973Ala) c.3106A>G (p.Thr1036Ala) c.3196A>G (p.Thr1066Ala) c.3157A>G (p.Thr1053Ala) n.4193A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10762610T>G | CA401923761 | PIEZO2 | c.3139A>C (p.Thr1047Pro) n.3196A>C c.3064A>C (p.Thr1022Pro) c.2917A>C (p.Thr973Pro) c.3106A>C (p.Thr1036Pro) c.3196A>C (p.Thr1066Pro) c.3157A>C (p.Thr1053Pro) n.4193A>C | |
18 | g.10762610T= | CA2284452456 | PIEZO2 | c.3139A= (p.Thr1047=) n.3196A= c.3064A= (p.Thr1022=) c.2917A= (p.Thr973=) c.3106A= (p.Thr1036=) c.3196A= (p.Thr1066=) c.3157A= (p.Thr1053=) n.4193A= | |
18 | g.10762611T>A | CA401923764 | PIEZO2 | c.3138A>T (p.Gln1046His) n.3195A>T c.3063A>T (p.Gln1021His) c.2916A>T (p.Gln972His) c.3105A>T (p.Gln1035His) c.3195A>T (p.Gln1065His) c.3156A>T (p.Gln1052His) n.4192A>T | |
18 | g.10762611T>C | CA502900491 | PIEZO2 | c.3138A>G (p.Gln1046=) n.3195A>G c.3063A>G (p.Gln1021=) c.2916A>G (p.Gln972=) c.3105A>G (p.Gln1035=) c.3195A>G (p.Gln1065=) c.3156A>G (p.Gln1052=) n.4192A>G | |
18 | g.10762611T>G | CA401923766 | PIEZO2 | c.3138A>C (p.Gln1046His) n.3195A>C c.3063A>C (p.Gln1021His) c.2916A>C (p.Gln972His) c.3105A>C (p.Gln1035His) c.3195A>C (p.Gln1065His) c.3156A>C (p.Gln1052His) n.4192A>C | |
18 | g.10762612T>A | CA401923768 | PIEZO2 | c.3137A>T (p.Gln1046Leu) n.3194A>T c.3062A>T (p.Gln1021Leu) c.2915A>T (p.Gln972Leu) c.3104A>T (p.Gln1035Leu) c.3194A>T (p.Gln1065Leu) c.3155A>T (p.Gln1052Leu) n.4191A>T | |
18 | g.10762612T>C | CA401923771 | PIEZO2 | c.3137A>G (p.Gln1046Arg) n.3194A>G c.3062A>G (p.Gln1021Arg) c.2915A>G (p.Gln972Arg) c.3104A>G (p.Gln1035Arg) c.3194A>G (p.Gln1065Arg) c.3155A>G (p.Gln1052Arg) n.4191A>G | COSMIC COSMIC |
18 | g.10762612T>G | CA401923769 | PIEZO2 | c.3137A>C (p.Gln1046Pro) n.3194A>C c.3062A>C (p.Gln1021Pro) c.2915A>C (p.Gln972Pro) c.3104A>C (p.Gln1035Pro) c.3194A>C (p.Gln1065Pro) c.3155A>C (p.Gln1052Pro) n.4191A>C | gnomAD v4 |
18 | g.10762613G>A | CA401923774 | PIEZO2 | c.3136C>T (p.Gln1046Ter) n.3193C>T c.3061C>T (p.Gln1021Ter) c.2914C>T (p.Gln972Ter) c.3103C>T (p.Gln1035Ter) c.3193C>T (p.Gln1065Ter) c.3154C>T (p.Gln1052Ter) n.4190C>T | |
18 | g.10762613G>C | CA401923775 | PIEZO2 | c.3136C>G (p.Gln1046Glu) n.3193C>G c.3061C>G (p.Gln1021Glu) c.2914C>G (p.Gln972Glu) c.3103C>G (p.Gln1035Glu) c.3193C>G (p.Gln1065Glu) c.3154C>G (p.Gln1052Glu) n.4190C>G | |
18 | g.10762613G>T | CA401923777 | PIEZO2 | c.3136C>A (p.Gln1046Lys) n.3193C>A c.3061C>A (p.Gln1021Lys) c.2914C>A (p.Gln972Lys) c.3103C>A (p.Gln1035Lys) c.3193C>A (p.Gln1065Lys) c.3154C>A (p.Gln1052Lys) n.4190C>A | |
18 | g.10762614A= | CA2284452457 | PIEZO2 | c.3135T= (p.Asn1045=) n.3192T= c.3060T= (p.Asn1020=) c.2913T= (p.Asn971=) c.3102T= (p.Asn1034=) c.3192T= (p.Asn1064=) c.3153T= (p.Asn1051=) n.4189T= | |
18 | g.10762614A>C | CA401923779 | PIEZO2 | c.3135T>G (p.Asn1045Lys) n.3192T>G c.3060T>G (p.Asn1020Lys) c.2913T>G (p.Asn971Lys) c.3102T>G (p.Asn1034Lys) c.3192T>G (p.Asn1064Lys) c.3153T>G (p.Asn1051Lys) n.4189T>G | |
18 | g.10762614A>G | CA502900493 | PIEZO2 | c.3135T>C (p.Asn1045=) n.3192T>C c.3060T>C (p.Asn1020=) c.2913T>C (p.Asn971=) c.3102T>C (p.Asn1034=) c.3192T>C (p.Asn1064=) c.3153T>C (p.Asn1051=) n.4189T>C | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10762614A>T | CA401923781 | PIEZO2 | c.3135T>A (p.Asn1045Lys) n.3192T>A c.3060T>A (p.Asn1020Lys) c.2913T>A (p.Asn971Lys) c.3102T>A (p.Asn1034Lys) c.3192T>A (p.Asn1064Lys) c.3153T>A (p.Asn1051Lys) n.4189T>A | |
18 | g.10762615T>A | CA401923783 | PIEZO2 | c.3134A>T (p.Asn1045Ile) n.3191A>T c.3059A>T (p.Asn1020Ile) c.2912A>T (p.Asn971Ile) c.3101A>T (p.Asn1034Ile) c.3191A>T (p.Asn1064Ile) c.3152A>T (p.Asn1051Ile) n.4188A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10762615T>C | CA401923785 | PIEZO2 | c.3134A>G (p.Asn1045Ser) n.3191A>G c.3059A>G (p.Asn1020Ser) c.2912A>G (p.Asn971Ser) c.3101A>G (p.Asn1034Ser) c.3191A>G (p.Asn1064Ser) c.3152A>G (p.Asn1051Ser) n.4188A>G | |
18 | g.10762615T>G | CA401923787 | PIEZO2 | c.3134A>C (p.Asn1045Thr) n.3191A>C c.3059A>C (p.Asn1020Thr) c.2912A>C (p.Asn971Thr) c.3101A>C (p.Asn1034Thr) c.3191A>C (p.Asn1064Thr) c.3152A>C (p.Asn1051Thr) n.4188A>C | |
18 | g.10762615T= | CA2284452458 | PIEZO2 | c.3134A= (p.Asn1045=) n.3191A= c.3059A= (p.Asn1020=) c.2912A= (p.Asn971=) c.3101A= (p.Asn1034=) c.3191A= (p.Asn1064=) c.3152A= (p.Asn1051=) n.4188A= | |
18 | g.10762618dup | CA502900494 | PIEZO2 | c.3134dup (p.Asn1045LysfsTer8) n.3191dup c.3059dup (p.Asn1020LysfsTer8) c.2912dup (p.Asn971LysfsTer8) c.3101dup (p.Asn1034LysfsTer8) c.3191dup (p.Asn1064LysfsTer8) c.3152dup (p.Asn1051LysfsTer8) n.4188dup | gnomAD v4 |
18 | g.10762616T>A | CA401923788 | PIEZO2 | c.3133A>T (p.Asn1045Tyr) n.3190A>T c.3058A>T (p.Asn1020Tyr) c.2911A>T (p.Asn971Tyr) c.3100A>T (p.Asn1034Tyr) c.3190A>T (p.Asn1064Tyr) c.3151A>T (p.Asn1051Tyr) n.4187A>T | |
18 | g.10762616T>C | CA401923789 | PIEZO2 | c.3133A>G (p.Asn1045Asp) n.3190A>G c.3058A>G (p.Asn1020Asp) c.2911A>G (p.Asn971Asp) c.3100A>G (p.Asn1034Asp) c.3190A>G (p.Asn1064Asp) c.3151A>G (p.Asn1051Asp) n.4187A>G | |
18 | g.10762616T>G | CA401923791 | PIEZO2 | c.3133A>C (p.Asn1045His) n.3190A>C c.3058A>C (p.Asn1020His) c.2911A>C (p.Asn971His) c.3100A>C (p.Asn1034His) c.3190A>C (p.Asn1064His) c.3151A>C (p.Asn1051His) n.4187A>C | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10762616T= | CA2284452459 | PIEZO2 | c.3133A= (p.Asn1045=) n.3190A= c.3058A= (p.Asn1020=) c.2911A= (p.Asn971=) c.3100A= (p.Asn1034=) c.3190A= (p.Asn1064=) c.3151A= (p.Asn1051=) n.4187A= | |
18 | g.10762617T>A | CA401923795 | PIEZO2 | c.3132A>T (p.Glu1044Asp) n.3189A>T c.3057A>T (p.Glu1019Asp) c.2910A>T (p.Glu970Asp) c.3099A>T (p.Glu1033Asp) c.3189A>T (p.Glu1063Asp) c.3150A>T (p.Glu1050Asp) n.4186A>T | |
18 | g.10762617T>C | CA502900497 | PIEZO2 | c.3132A>G (p.Glu1044=) n.3189A>G c.3057A>G (p.Glu1019=) c.2910A>G (p.Glu970=) c.3099A>G (p.Glu1033=) c.3189A>G (p.Glu1063=) c.3150A>G (p.Glu1050=) n.4186A>G | |
18 | g.10762617T>G | CA401923793 | PIEZO2 | c.3132A>C (p.Glu1044Asp) n.3189A>C c.3057A>C (p.Glu1019Asp) c.2910A>C (p.Glu970Asp) c.3099A>C (p.Glu1033Asp) c.3189A>C (p.Glu1063Asp) c.3150A>C (p.Glu1050Asp) n.4186A>C | |
18 | g.10762618T>A | CA401923797 | PIEZO2 | c.3131A>T (p.Glu1044Val) n.3188A>T c.3056A>T (p.Glu1019Val) c.2909A>T (p.Glu970Val) c.3098A>T (p.Glu1033Val) c.3188A>T (p.Glu1063Val) c.3149A>T (p.Glu1050Val) n.4185A>T | |
18 | g.10762618T>C | CA401923799 | PIEZO2 | c.3131A>G (p.Glu1044Gly) n.3188A>G c.3056A>G (p.Glu1019Gly) c.2909A>G (p.Glu970Gly) c.3098A>G (p.Glu1033Gly) c.3188A>G (p.Glu1063Gly) c.3149A>G (p.Glu1050Gly) n.4185A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10762618T>G | CA401923800 | PIEZO2 | c.3131A>C (p.Glu1044Ala) n.3188A>C c.3056A>C (p.Glu1019Ala) c.2909A>C (p.Glu970Ala) c.3098A>C (p.Glu1033Ala) c.3188A>C (p.Glu1063Ala) c.3149A>C (p.Glu1050Ala) n.4185A>C | |
18 | g.10762618T= | CA2284452460 | PIEZO2 | c.3131A= (p.Glu1044=) n.3188A= c.3056A= (p.Glu1019=) c.2909A= (p.Glu970=) c.3098A= (p.Glu1033=) c.3188A= (p.Glu1063=) c.3149A= (p.Glu1050=) n.4185A= | |
18 | g.10762619C>A | CA401923802 | PIEZO2 | c.3130G>T (p.Glu1044Ter) n.3187G>T c.3055G>T (p.Glu1019Ter) c.2908G>T (p.Glu970Ter) c.3097G>T (p.Glu1033Ter) c.3187G>T (p.Glu1063Ter) c.3148G>T (p.Glu1050Ter) n.4184G>T | |
18 | g.10762619C>G | CA401923804 | PIEZO2 | c.3130G>C (p.Glu1044Gln) n.3187G>C c.3055G>C (p.Glu1019Gln) c.2908G>C (p.Glu970Gln) c.3097G>C (p.Glu1033Gln) c.3187G>C (p.Glu1063Gln) c.3148G>C (p.Glu1050Gln) n.4184G>C | |
18 | g.10762619C>T | CA401923806 | PIEZO2 | c.3130G>A (p.Glu1044Lys) n.3187G>A c.3055G>A (p.Glu1019Lys) c.2908G>A (p.Glu970Lys) c.3097G>A (p.Glu1033Lys) c.3187G>A (p.Glu1063Lys) c.3148G>A (p.Glu1050Lys) n.4184G>A | |
18 | g.10762620A>C | CA401923808 | PIEZO2 | c.3129T>G (p.Asn1043Lys) n.3186T>G c.3054T>G (p.Asn1018Lys) c.2907T>G (p.Asn969Lys) c.3096T>G (p.Asn1032Lys) c.3186T>G (p.Asn1062Lys) c.3147T>G (p.Asn1049Lys) n.4183T>G | |
18 | g.10762620A>G | CA502900500 | PIEZO2 | c.3129T>C (p.Asn1043=) n.3186T>C c.3054T>C (p.Asn1018=) c.2907T>C (p.Asn969=) c.3096T>C (p.Asn1032=) c.3186T>C (p.Asn1062=) c.3147T>C (p.Asn1049=) n.4183T>C | |
18 | g.10762620A>T | CA401923810 | PIEZO2 | c.3129T>A (p.Asn1043Lys) n.3186T>A c.3054T>A (p.Asn1018Lys) c.2907T>A (p.Asn969Lys) c.3096T>A (p.Asn1032Lys) c.3186T>A (p.Asn1062Lys) c.3147T>A (p.Asn1049Lys) n.4183T>A | |
18 | g.10762621T>A | CA401923811 | PIEZO2 | c.3128A>T (p.Asn1043Ile) n.3185A>T c.3053A>T (p.Asn1018Ile) c.2906A>T (p.Asn969Ile) c.3095A>T (p.Asn1032Ile) c.3185A>T (p.Asn1062Ile) c.3146A>T (p.Asn1049Ile) n.4182A>T | |
18 | g.10762621T>C | CA401923813 | PIEZO2 | c.3128A>G (p.Asn1043Ser) n.3185A>G c.3053A>G (p.Asn1018Ser) c.2906A>G (p.Asn969Ser) c.3095A>G (p.Asn1032Ser) c.3185A>G (p.Asn1062Ser) c.3146A>G (p.Asn1049Ser) n.4182A>G | |
18 | g.10762621T>G | CA401923815 | PIEZO2 | c.3128A>C (p.Asn1043Thr) n.3185A>C c.3053A>C (p.Asn1018Thr) c.2906A>C (p.Asn969Thr) c.3095A>C (p.Asn1032Thr) c.3185A>C (p.Asn1062Thr) c.3146A>C (p.Asn1049Thr) n.4182A>C | |
18 | g.10762622T>A | CA401923820 | PIEZO2 | c.3127A>T (p.Asn1043Tyr) n.3184A>T c.3052A>T (p.Asn1018Tyr) c.2905A>T (p.Asn969Tyr) c.3094A>T (p.Asn1032Tyr) c.3184A>T (p.Asn1062Tyr) c.3145A>T (p.Asn1049Tyr) n.4181A>T | |
18 | g.10762622T>C | CA401923819 | PIEZO2 | c.3127A>G (p.Asn1043Asp) n.3184A>G c.3052A>G (p.Asn1018Asp) c.2905A>G (p.Asn969Asp) c.3094A>G (p.Asn1032Asp) c.3184A>G (p.Asn1062Asp) c.3145A>G (p.Asn1049Asp) n.4181A>G | |
18 | g.10762622T>G | CA401923817 | PIEZO2 | c.3127A>C (p.Asn1043His) n.3184A>C c.3052A>C (p.Asn1018His) c.2905A>C (p.Asn969His) c.3094A>C (p.Asn1032His) c.3184A>C (p.Asn1062His) c.3145A>C (p.Asn1049His) n.4181A>C | |
18 | g.10762623T>A | CA502900502 | PIEZO2 | c.3126A>T (p.Pro1042=) n.3183A>T c.3051A>T (p.Pro1017=) c.2904A>T (p.Pro968=) c.3093A>T (p.Pro1031=) c.3183A>T (p.Pro1061=) c.3144A>T (p.Pro1048=) n.4180A>T | |
18 | g.10762623T>C | CA502900503 | PIEZO2 | c.3126A>G (p.Pro1042=) n.3183A>G c.3051A>G (p.Pro1017=) c.2904A>G (p.Pro968=) c.3093A>G (p.Pro1031=) c.3183A>G (p.Pro1061=) c.3144A>G (p.Pro1048=) n.4180A>G | |
18 | g.10762623T>G | CA502900504 | PIEZO2 | c.3126A>C (p.Pro1042=) n.3183A>C c.3051A>C (p.Pro1017=) c.2904A>C (p.Pro968=) c.3093A>C (p.Pro1031=) c.3183A>C (p.Pro1061=) c.3144A>C (p.Pro1048=) n.4180A>C | |
18 | g.10762624G>A | CA401923822 | PIEZO2 | c.3125C>T (p.Pro1042Leu) n.3182C>T c.3050C>T (p.Pro1017Leu) c.2903C>T (p.Pro968Leu) c.3092C>T (p.Pro1031Leu) c.3182C>T (p.Pro1061Leu) c.3143C>T (p.Pro1048Leu) n.4179C>T | |
18 | g.10762624G>C | CA401923824 | PIEZO2 | c.3125C>G (p.Pro1042Arg) n.3182C>G c.3050C>G (p.Pro1017Arg) c.2903C>G (p.Pro968Arg) c.3092C>G (p.Pro1031Arg) c.3182C>G (p.Pro1061Arg) c.3143C>G (p.Pro1048Arg) n.4179C>G | dbSNP |
18 | g.10762624G= | CA2284452461 | PIEZO2 | c.3125C= (p.Pro1042=) n.3182C= c.3050C= (p.Pro1017=) c.2903C= (p.Pro968=) c.3092C= (p.Pro1031=) c.3182C= (p.Pro1061=) c.3143C= (p.Pro1048=) n.4179C= | |
18 | g.10762624G>T | CA296032414 | PIEZO2 | c.3125C>A (p.Pro1042Gln) n.3182C>A c.3050C>A (p.Pro1017Gln) c.2903C>A (p.Pro968Gln) c.3092C>A (p.Pro1031Gln) c.3182C>A (p.Pro1061Gln) c.3143C>A (p.Pro1048Gln) n.4179C>A | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10762625G>A | CA401923827 | PIEZO2 | c.3124C>T (p.Pro1042Ser) n.3181C>T c.3049C>T (p.Pro1017Ser) c.2902C>T (p.Pro968Ser) c.3091C>T (p.Pro1031Ser) c.3181C>T (p.Pro1061Ser) c.3142C>T (p.Pro1048Ser) n.4178C>T | COSMIC COSMIC |
18 | g.10762625G>C | CA401923828 | PIEZO2 | c.3124C>G (p.Pro1042Ala) n.3181C>G c.3049C>G (p.Pro1017Ala) c.2902C>G (p.Pro968Ala) c.3091C>G (p.Pro1031Ala) c.3181C>G (p.Pro1061Ala) c.3142C>G (p.Pro1048Ala) n.4178C>G | gnomAD v4 |
18 | g.10762625G= | CA2284452462 | PIEZO2 | c.3124C= (p.Pro1042=) n.3181C= c.3049C= (p.Pro1017=) c.2902C= (p.Pro968=) c.3091C= (p.Pro1031=) c.3181C= (p.Pro1061=) c.3142C= (p.Pro1048=) n.4178C= | |
18 | g.10762625G>T | CA401923830 | PIEZO2 | c.3124C>A (p.Pro1042Thr) n.3181C>A c.3049C>A (p.Pro1017Thr) c.2902C>A (p.Pro968Thr) c.3091C>A (p.Pro1031Thr) c.3181C>A (p.Pro1061Thr) c.3142C>A (p.Pro1048Thr) n.4178C>A | dbSNP |
18 | g.10762626C>A | CA401923832 | PIEZO2 | c.3124-1G>T (n.3124-1G>T) n.3181-1G>T c.3049-1G>T (n.3049-1G>T) c.2902-1G>T (n.2902-1G>T) c.3091-1G>T (n.3091-1G>T) c.3181-1G>T (n.3181-1G>T) c.3142-1G>T (n.3142-1G>T) n.4178-1G>T | |
18 | g.10762626C>G | CA401923834 | PIEZO2 | c.3124-1G>C (n.3124-1G>C) n.3181-1G>C c.3049-1G>C (n.3049-1G>C) c.2902-1G>C (n.2902-1G>C) c.3091-1G>C (n.3091-1G>C) c.3181-1G>C (n.3181-1G>C) c.3142-1G>C (n.3142-1G>C) n.4178-1G>C | |
18 | g.10762626C>T | CA401923835 | PIEZO2 | c.3124-1G>A (n.3124-1G>A) n.3181-1G>A c.3049-1G>A (n.3049-1G>A) c.2902-1G>A (n.2902-1G>A) c.3091-1G>A (n.3091-1G>A) c.3181-1G>A (n.3181-1G>A) c.3142-1G>A (n.3142-1G>A) n.4178-1G>A | |
18 | g.10762627T>A | CA401923838 | PIEZO2 | c.3124-2A>T (n.3124-2A>T) n.3181-2A>T c.3049-2A>T (n.3049-2A>T) c.2902-2A>T (n.2902-2A>T) c.3091-2A>T (n.3091-2A>T) c.3181-2A>T (n.3181-2A>T) c.3142-2A>T (n.3142-2A>T) n.4178-2A>T | |
18 | g.10762627T>C | CA401923840 | PIEZO2 | c.3124-2A>G (n.3124-2A>G) n.3181-2A>G c.3049-2A>G (n.3049-2A>G) c.2902-2A>G (n.2902-2A>G) c.3091-2A>G (n.3091-2A>G) c.3181-2A>G (n.3181-2A>G) c.3142-2A>G (n.3142-2A>G) n.4178-2A>G | |
18 | g.10762627T>G | CA401923841 | PIEZO2 | c.3124-2A>C (n.3124-2A>C) n.3181-2A>C c.3049-2A>C (n.3049-2A>C) c.2902-2A>C (n.2902-2A>C) c.3091-2A>C (n.3091-2A>C) c.3181-2A>C (n.3181-2A>C) c.3142-2A>C (n.3142-2A>C) n.4178-2A>C | |
18 | g.10762628A>G | CA2641014327 | PIEZO2 | c.3124-3T>C (n.3124-3T>C) n.3181-3T>C c.3049-3T>C (n.3049-3T>C) c.2902-3T>C (n.2902-3T>C) c.3091-3T>C (n.3091-3T>C) c.3181-3T>C (n.3181-3T>C) c.3142-3T>C (n.3142-3T>C) n.4178-3T>C | gnomAD v4 |
18 | g.10762630_10762632del | CA2641014326 | PIEZO2 | c.3124-5_3124-3del (n.3124-5_3124-3del) n.3181-5_3181-3del c.3049-5_3049-3del (n.3049-5_3049-3del) c.2902-5_2902-3del (n.2902-5_2902-3del) c.3091-5_3091-3del (n.3091-5_3091-3del) c.3181-5_3181-3del (n.3181-5_3181-3del) c.3142-5_3142-3del (n.3142-5_3142-3del) n.4178-5_4178-3del | gnomAD v4 |
18 | g.10762638G>A | CA628486163 | PIEZO2 | c.3124-13C>T (n.3124-13C>T) n.3181-13C>T c.3049-13C>T (n.3049-13C>T) c.2902-13C>T (n.2902-13C>T) c.3091-13C>T (n.3091-13C>T) c.3181-13C>T (n.3181-13C>T) c.3142-13C>T (n.3142-13C>T) n.4178-13C>T | dbSNP gnomAD v2 gnomAD v4 |
18 | g.10762638G= | CA2284452463 | PIEZO2 | c.3124-13C= (n.3124-13C=) n.3181-13C= c.3049-13C= (n.3049-13C=) c.2902-13C= (n.2902-13C=) c.3091-13C= (n.3091-13C=) c.3181-13C= (n.3181-13C=) c.3142-13C= (n.3142-13C=) n.4178-13C= | |
18 | g.10762642A= | CA2284452464 | PIEZO2 | c.3124-17T= (n.3124-17T=) n.3181-17T= c.3049-17T= (n.3049-17T=) c.2902-17T= (n.2902-17T=) c.3091-17T= (n.3091-17T=) c.3181-17T= (n.3181-17T=) c.3142-17T= (n.3142-17T=) n.4178-17T= | |
18 | g.10762642A>T | CA296032426 | PIEZO2 | c.3124-17T>A (n.3124-17T>A) n.3181-17T>A c.3049-17T>A (n.3049-17T>A) c.2902-17T>A (n.2902-17T>A) c.3091-17T>A (n.3091-17T>A) c.3181-17T>A (n.3181-17T>A) c.3142-17T>A (n.3142-17T>A) n.4178-17T>A | dbSNP gnomAD v4 |
18 | g.10762643T>A | CA628486164 | PIEZO2 | c.3124-18A>T (n.3124-18A>T) n.3181-18A>T c.3049-18A>T (n.3049-18A>T) c.2902-18A>T (n.2902-18A>T) c.3091-18A>T (n.3091-18A>T) c.3181-18A>T (n.3181-18A>T) c.3142-18A>T (n.3142-18A>T) n.4178-18A>T | dbSNP gnomAD v2 gnomAD v4 |
18 | g.10762643T>C | CA2641014329 | PIEZO2 | c.3124-18A>G (n.3124-18A>G) n.3181-18A>G c.3049-18A>G (n.3049-18A>G) c.2902-18A>G (n.2902-18A>G) c.3091-18A>G (n.3091-18A>G) c.3181-18A>G (n.3181-18A>G) c.3142-18A>G (n.3142-18A>G) n.4178-18A>G | gnomAD v4 |
18 | g.10762643T>G | CA2641014330 | PIEZO2 | c.3124-18A>C (n.3124-18A>C) n.3181-18A>C c.3049-18A>C (n.3049-18A>C) c.2902-18A>C (n.2902-18A>C) c.3091-18A>C (n.3091-18A>C) c.3181-18A>C (n.3181-18A>C) c.3142-18A>C (n.3142-18A>C) n.4178-18A>C | gnomAD v4 |
18 | g.10762643T= | CA2284452465 | PIEZO2 | c.3124-18A= (n.3124-18A=) n.3181-18A= c.3049-18A= (n.3049-18A=) c.2902-18A= (n.2902-18A=) c.3091-18A= (n.3091-18A=) c.3181-18A= (n.3181-18A=) c.3142-18A= (n.3142-18A=) n.4178-18A= | |
18 | g.10762643_10762648del | CA2641014328 | PIEZO2 | c.3124-23_3124-18del (n.3124-23_3124-18del) n.3181-23_3181-18del c.3049-23_3049-18del (n.3049-23_3049-18del) c.2902-23_2902-18del (n.2902-23_2902-18del) c.3091-23_3091-18del (n.3091-23_3091-18del) c.3181-23_3181-18del (n.3181-23_3181-18del) c.3142-23_3142-18del (n.3142-23_3142-18del) n.4178-23_4178-18del | gnomAD v4 |
18 | g.10762644G>A | CA628486165 | PIEZO2 | c.3124-19C>T (n.3124-19C>T) n.3181-19C>T c.3049-19C>T (n.3049-19C>T) c.2902-19C>T (n.2902-19C>T) c.3091-19C>T (n.3091-19C>T) c.3181-19C>T (n.3181-19C>T) c.3142-19C>T (n.3142-19C>T) n.4178-19C>T | dbSNP gnomAD v2 gnomAD v4 |
18 | g.10762644G= | CA2284452466 | PIEZO2 | c.3124-19C= (n.3124-19C=) n.3181-19C= c.3049-19C= (n.3049-19C=) c.2902-19C= (n.2902-19C=) c.3091-19C= (n.3091-19C=) c.3181-19C= (n.3181-19C=) c.3142-19C= (n.3142-19C=) n.4178-19C= | |
18 | g.10762644G>T | CA2641014331 | PIEZO2 | c.3124-19C>A (n.3124-19C>A) n.3181-19C>A c.3049-19C>A (n.3049-19C>A) c.2902-19C>A (n.2902-19C>A) c.3091-19C>A (n.3091-19C>A) c.3181-19C>A (n.3181-19C>A) c.3142-19C>A (n.3142-19C>A) n.4178-19C>A | gnomAD v4 |
18 | g.10762645G>A | CA628486166 | PIEZO2 | c.3124-20C>T (n.3124-20C>T) n.3181-20C>T c.3049-20C>T (n.3049-20C>T) c.2902-20C>T (n.2902-20C>T) c.3091-20C>T (n.3091-20C>T) c.3181-20C>T (n.3181-20C>T) c.3142-20C>T (n.3142-20C>T) n.4178-20C>T | dbSNP gnomAD v2 gnomAD v4 |
18 | g.10762645G>C | CA2641014332 | PIEZO2 | c.3124-20C>G (n.3124-20C>G) n.3181-20C>G c.3049-20C>G (n.3049-20C>G) c.2902-20C>G (n.2902-20C>G) c.3091-20C>G (n.3091-20C>G) c.3181-20C>G (n.3181-20C>G) c.3142-20C>G (n.3142-20C>G) n.4178-20C>G | gnomAD v4 |
18 | g.10762645G= | CA2284452467 | PIEZO2 | c.3124-20C= (n.3124-20C=) n.3181-20C= c.3049-20C= (n.3049-20C=) c.2902-20C= (n.2902-20C=) c.3091-20C= (n.3091-20C=) c.3181-20C= (n.3181-20C=) c.3142-20C= (n.3142-20C=) n.4178-20C= | |
18 | g.10762645G>T | CA2576456617 | PIEZO2 | c.3124-20C>A (n.3124-20C>A) n.3181-20C>A c.3049-20C>A (n.3049-20C>A) c.2902-20C>A (n.2902-20C>A) c.3091-20C>A (n.3091-20C>A) c.3181-20C>A (n.3181-20C>A) c.3142-20C>A (n.3142-20C>A) n.4178-20C>A | dbSNP |
18 | g.10762646A>G | CA2641014333 | PIEZO2 | c.3124-21T>C (n.3124-21T>C) n.3181-21T>C c.3049-21T>C (n.3049-21T>C) c.2902-21T>C (n.2902-21T>C) c.3091-21T>C (n.3091-21T>C) c.3181-21T>C (n.3181-21T>C) c.3142-21T>C (n.3142-21T>C) n.4178-21T>C | gnomAD v4 |
18 | g.10762647G>A | CA628486167 | PIEZO2 | c.3124-22C>T (n.3124-22C>T) n.3181-22C>T c.3049-22C>T (n.3049-22C>T) c.2902-22C>T (n.2902-22C>T) c.3091-22C>T (n.3091-22C>T) c.3181-22C>T (n.3181-22C>T) c.3142-22C>T (n.3142-22C>T) n.4178-22C>T | dbSNP gnomAD v2 gnomAD v4 |
18 | g.10762647G= | CA2284452468 | PIEZO2 | c.3124-22C= (n.3124-22C=) n.3181-22C= c.3049-22C= (n.3049-22C=) c.2902-22C= (n.2902-22C=) c.3091-22C= (n.3091-22C=) c.3181-22C= (n.3181-22C=) c.3142-22C= (n.3142-22C=) n.4178-22C= | |
18 | g.10762648T>A | CA628486168 | PIEZO2 | c.3124-23A>T (n.3124-23A>T) n.3181-23A>T c.3049-23A>T (n.3049-23A>T) c.2902-23A>T (n.2902-23A>T) c.3091-23A>T (n.3091-23A>T) c.3181-23A>T (n.3181-23A>T) c.3142-23A>T (n.3142-23A>T) n.4178-23A>T | dbSNP gnomAD v2 gnomAD v4 |
18 | g.10762648T= | CA2284452469 | PIEZO2 | c.3124-23A= (n.3124-23A=) n.3181-23A= c.3049-23A= (n.3049-23A=) c.2902-23A= (n.2902-23A=) c.3091-23A= (n.3091-23A=) c.3181-23A= (n.3181-23A=) c.3142-23A= (n.3142-23A=) n.4178-23A= | |
18 | g.10762648_10762649delinsTA | CA2284452470 | PIEZO2 | c.3124-24_3124-23delinsTA (n.3124-24_3124-23delinsTA) n.3181-24_3181-23delinsTA c.3049-24_3049-23delinsTA (n.3049-24_3049-23delinsTA) c.2902-24_2902-23delinsTA (n.2902-24_2902-23delinsTA) c.3091-24_3091-23delinsTA (n.3091-24_3091-23delinsTA) c.3181-24_3181-23delinsTA (n.3181-24_3181-23delinsTA) c.3142-24_3142-23delinsTA (n.3142-24_3142-23delinsTA) n.4178-24_4178-23delinsTA | |
18 | g.10762649A= | CA2284452471 | PIEZO2 | c.3124-24T= (n.3124-24T=) n.3181-24T= c.3049-24T= (n.3049-24T=) c.2902-24T= (n.2902-24T=) c.3091-24T= (n.3091-24T=) c.3181-24T= (n.3181-24T=) c.3142-24T= (n.3142-24T=) n.4178-24T= | |
18 | g.10762649A>T | CA2284452472 | PIEZO2 | c.3124-24T>A (n.3124-24T>A) n.3181-24T>A c.3049-24T>A (n.3049-24T>A) c.2902-24T>A (n.2902-24T>A) c.3091-24T>A (n.3091-24T>A) c.3181-24T>A (n.3181-24T>A) c.3142-24T>A (n.3142-24T>A) n.4178-24T>A | dbSNP |
18 | g.10762657dup | CA8892580 | PIEZO2 | c.3124-24dup (n.3124-24dup) n.3181-24dup c.3049-24dup (n.3049-24dup) c.2902-24dup (n.2902-24dup) c.3091-24dup (n.3091-24dup) c.3181-24dup (n.3181-24dup) c.3142-24dup (n.3142-24dup) n.4178-24dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10762657del | CA8892581 | PIEZO2 | c.3124-24del (n.3124-24del) n.3181-24del c.3049-24del (n.3049-24del) c.2902-24del (n.2902-24del) c.3091-24del (n.3091-24del) c.3181-24del (n.3181-24del) c.3142-24del (n.3142-24del) n.4178-24del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.10762656_10762657del | CA2641014334 | PIEZO2 | c.3124-25_3124-24del (n.3124-25_3124-24del) n.3181-25_3181-24del c.3049-25_3049-24del (n.3049-25_3049-24del) c.2902-25_2902-24del (n.2902-25_2902-24del) c.3091-25_3091-24del (n.3091-25_3091-24del) c.3181-25_3181-24del (n.3181-25_3181-24del) c.3142-25_3142-24del (n.3142-25_3142-24del) n.4178-25_4178-24del | gnomAD v4 |
18 | g.10762651A= | CA2284452473 | PIEZO2 | c.3124-26T= (n.3124-26T=) n.3181-26T= c.3049-26T= (n.3049-26T=) c.2902-26T= (n.2902-26T=) c.3091-26T= (n.3091-26T=) c.3181-26T= (n.3181-26T=) c.3142-26T= (n.3142-26T=) n.4178-26T= | |
18 | g.10762651A>C | CA2284452474 | PIEZO2 | c.3124-26T>G (n.3124-26T>G) n.3181-26T>G c.3049-26T>G (n.3049-26T>G) c.2902-26T>G (n.2902-26T>G) c.3091-26T>G (n.3091-26T>G) c.3181-26T>G (n.3181-26T>G) c.3142-26T>G (n.3142-26T>G) n.4178-26T>G | dbSNP |
18 | g.10762651A>G | CA987790776 | PIEZO2 | c.3124-26T>C (n.3124-26T>C) n.3181-26T>C c.3049-26T>C (n.3049-26T>C) c.2902-26T>C (n.2902-26T>C) c.3091-26T>C (n.3091-26T>C) c.3181-26T>C (n.3181-26T>C) c.3142-26T>C (n.3142-26T>C) n.4178-26T>C | dbSNP gnomAD v3 gnomAD v4 |
18 | g.10762652A= | CA2284452475 | PIEZO2 | c.3124-27T= (n.3124-27T=) n.3181-27T= c.3049-27T= (n.3049-27T=) c.2902-27T= (n.2902-27T=) c.3091-27T= (n.3091-27T=) c.3181-27T= (n.3181-27T=) c.3142-27T= (n.3142-27T=) n.4178-27T= | |
18 | g.10762652A>G | CA628486169 | PIEZO2 | c.3124-27T>C (n.3124-27T>C) n.3181-27T>C c.3049-27T>C (n.3049-27T>C) c.2902-27T>C (n.2902-27T>C) c.3091-27T>C (n.3091-27T>C) c.3181-27T>C (n.3181-27T>C) c.3142-27T>C (n.3142-27T>C) n.4178-27T>C | dbSNP gnomAD v2 gnomAD v4 |
18 | g.10762654A= | CA2284452476 | PIEZO2 | c.3124-29T= (n.3124-29T=) n.3181-29T= c.3049-29T= (n.3049-29T=) c.2902-29T= (n.2902-29T=) c.3091-29T= (n.3091-29T=) c.3181-29T= (n.3181-29T=) c.3142-29T= (n.3142-29T=) n.4178-29T= | |
18 | g.10762654A>C | CA628486170 | PIEZO2 | c.3124-29T>G (n.3124-29T>G) n.3181-29T>G c.3049-29T>G (n.3049-29T>G) c.2902-29T>G (n.2902-29T>G) c.3091-29T>G (n.3091-29T>G) c.3181-29T>G (n.3181-29T>G) c.3142-29T>G (n.3142-29T>G) n.4178-29T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.10762654A>T | CA2576456618 | PIEZO2 | c.3124-29T>A (n.3124-29T>A) n.3181-29T>A c.3049-29T>A (n.3049-29T>A) c.2902-29T>A (n.2902-29T>A) c.3091-29T>A (n.3091-29T>A) c.3181-29T>A (n.3181-29T>A) c.3142-29T>A (n.3142-29T>A) n.4178-29T>A | gnomAD v4 |
18 | g.10762655A>T | CA2641014335 | PIEZO2 | c.3124-30T>A (n.3124-30T>A) n.3181-30T>A c.3049-30T>A (n.3049-30T>A) c.2902-30T>A (n.2902-30T>A) c.3091-30T>A (n.3091-30T>A) c.3181-30T>A (n.3181-30T>A) c.3142-30T>A (n.3142-30T>A) n.4178-30T>A | gnomAD v4 |