Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38565063G>A | CA507355480 | RYR1 | c.1139G>A c.1121G>A c.12729G>A (p.Glu4243=) c.12714G>A (p.Glu4238=) c.12711G>A (p.Glu4237=) c.6098G>A c.12696G>A (p.Glu4232=) c.12726G>A (p.Glu4242=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565063G>C | CA405671023 | RYR1 | c.1139G>C c.1121G>C c.12729G>C (p.Glu4243Asp) c.12714G>C (p.Glu4238Asp) c.12711G>C (p.Glu4237Asp) c.6098G>C c.12696G>C (p.Glu4232Asp) c.12726G>C (p.Glu4242Asp) | ClinVar dbSNP |
19 | g.38565063G= | CA2335084611 | RYR1 | c.1139G= c.1121G= c.12729G= (p.Glu4243=) c.12714G= (p.Glu4238=) c.12711G= (p.Glu4237=) c.6098G= c.12696G= (p.Glu4232=) c.12726G= (p.Glu4242=) | |
19 | g.38565063G>T | CA405671024 | RYR1 | c.1139G>T c.1121G>T c.12729G>T (p.Glu4243Asp) c.12714G>T (p.Glu4238Asp) c.12711G>T (p.Glu4237Asp) c.6098G>T c.12696G>T (p.Glu4232Asp) c.12726G>T (p.Glu4242Asp) | gnomAD v4 |
19 | g.38565064A>C | CA405671025 | RYR1 | c.1140A>C c.1122A>C c.12730A>C (p.Met4244Leu) c.12715A>C (p.Met4239Leu) c.12712A>C (p.Met4238Leu) c.6099A>C c.12697A>C (p.Met4233Leu) c.12727A>C (p.Met4243Leu) | |
19 | g.38565064A>G | CA405671026 | RYR1 | c.1140A>G c.1122A>G c.12730A>G (p.Met4244Val) c.12715A>G (p.Met4239Val) c.12712A>G (p.Met4238Val) c.6099A>G c.12697A>G (p.Met4233Val) c.12727A>G (p.Met4243Val) | gnomAD v4 |
19 | g.38565064A>T | CA405671027 | RYR1 | c.1140A>T c.1122A>T c.12730A>T (p.Met4244Leu) c.12715A>T (p.Met4239Leu) c.12712A>T (p.Met4238Leu) c.6099A>T c.12697A>T (p.Met4233Leu) c.12727A>T (p.Met4243Leu) | gnomAD v4 |
19 | g.38565065T>A | CA405671028 | RYR1 | c.1141T>A c.1123T>A c.12731T>A (p.Met4244Lys) c.12716T>A (p.Met4239Lys) c.12713T>A (p.Met4238Lys) c.6100T>A c.12698T>A (p.Met4233Lys) c.12728T>A (p.Met4243Lys) | |
19 | g.38565065T>C | CA059359 | RYR1 | c.1141T>C c.1123T>C c.12731T>C (p.Met4244Thr) c.12716T>C (p.Met4239Thr) c.12713T>C (p.Met4238Thr) c.6100T>C c.12698T>C (p.Met4233Thr) c.12728T>C (p.Met4243Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38565065T>G | CA405671029 | RYR1 | c.1141T>G c.1123T>G c.12731T>G (p.Met4244Arg) c.12716T>G (p.Met4239Arg) c.12713T>G (p.Met4238Arg) c.6100T>G c.12698T>G (p.Met4233Arg) c.12728T>G (p.Met4243Arg) | |
19 | g.38565065T= | CA2335084612 | RYR1 | c.1141T= c.1123T= c.12731T= (p.Met4244=) c.12716T= (p.Met4239=) c.12713T= (p.Met4238=) c.6100T= c.12698T= (p.Met4233=) c.12728T= (p.Met4243=) | |
19 | g.38565066G>A | CA405671030 | RYR1 | c.1142G>A c.1124G>A c.12732G>A (p.Met4244Ile) c.12717G>A (p.Met4239Ile) c.12714G>A (p.Met4238Ile) c.6101G>A c.12699G>A (p.Met4233Ile) c.12729G>A (p.Met4243Ile) | gnomAD v4 |
19 | g.38565066G>C | CA405671031 | RYR1 | c.1142G>C c.1124G>C c.12732G>C (p.Met4244Ile) c.12717G>C (p.Met4239Ile) c.12714G>C (p.Met4238Ile) c.6101G>C c.12699G>C (p.Met4233Ile) c.12729G>C (p.Met4243Ile) | |
19 | g.38565066G>T | CA405671032 | RYR1 | c.1142G>T c.1124G>T c.12732G>T (p.Met4244Ile) c.12717G>T (p.Met4239Ile) c.12714G>T (p.Met4238Ile) c.6101G>T c.12699G>T (p.Met4233Ile) c.12729G>T (p.Met4243Ile) | gnomAD v4 COSMIC |
19 | g.38565073_38565084del | CA2573054758 | RYR1 | c.1149_1160del c.1131_1142del c.12739_12750del (p.Ala4247_Ile4250del) c.12724_12735del (p.Ala4242_Ile4245del) c.12721_12732del (p.Ala4241_Ile4244del) c.6108_6119del c.12706_12717del (p.Ala4236_Ile4239del) c.12736_12747del (p.Ala4246_Ile4249del) | ClinVar dbSNP gnomAD v4 |
19 | g.38565067C>A | CA405671033 | RYR1 | c.1143C>A c.1125C>A c.12733C>A (p.Gln4245Lys) c.12718C>A (p.Gln4240Lys) c.12715C>A (p.Gln4239Lys) c.6102C>A c.12700C>A (p.Gln4234Lys) c.12730C>A (p.Gln4244Lys) | gnomAD v4 |
19 | g.38565067C= | CA2335084613 | RYR1 | c.1143C= c.1125C= c.12733C= (p.Gln4245=) c.12718C= (p.Gln4240=) c.12715C= (p.Gln4239=) c.6102C= c.12700C= (p.Gln4234=) c.12730C= (p.Gln4244=) | |
19 | g.38565067C>G | CA405671035 | RYR1 | c.1143C>G c.1125C>G c.12733C>G (p.Gln4245Glu) c.12718C>G (p.Gln4240Glu) c.12715C>G (p.Gln4239Glu) c.6102C>G c.12700C>G (p.Gln4234Glu) c.12730C>G (p.Gln4244Glu) | dbSNP gnomAD v2 |
19 | g.38565067C>T | CA405671034 | RYR1 | c.1143C>T c.1125C>T c.12733C>T (p.Gln4245Ter) c.12718C>T (p.Gln4240Ter) c.12715C>T (p.Gln4239Ter) c.6102C>T c.12700C>T (p.Gln4234Ter) c.12730C>T (p.Gln4244Ter) | gnomAD v4 |
19 | g.38565068A>C | CA405671036 | RYR1 | c.1144A>C c.1126A>C c.12734A>C (p.Gln4245Pro) c.12719A>C (p.Gln4240Pro) c.12716A>C (p.Gln4239Pro) c.6103A>C c.12701A>C (p.Gln4234Pro) c.12731A>C (p.Gln4244Pro) | |
19 | g.38565068A>G | CA405671037 | RYR1 | c.1144A>G c.1126A>G c.12734A>G (p.Gln4245Arg) c.12719A>G (p.Gln4240Arg) c.12716A>G (p.Gln4239Arg) c.6103A>G c.12701A>G (p.Gln4234Arg) c.12731A>G (p.Gln4244Arg) | gnomAD v4 |
19 | g.38565068A>T | CA405671038 | RYR1 | c.1144A>T c.1126A>T c.12734A>T (p.Gln4245Leu) c.12719A>T (p.Gln4240Leu) c.12716A>T (p.Gln4239Leu) c.6103A>T c.12701A>T (p.Gln4234Leu) c.12731A>T (p.Gln4244Leu) | gnomAD v4 |
19 | g.38565069G>A | CA507355487 | RYR1 | c.1145G>A c.1127G>A c.12735G>A (p.Gln4245=) c.12720G>A (p.Gln4240=) c.12717G>A (p.Gln4239=) c.6104G>A c.12702G>A (p.Gln4234=) c.12732G>A (p.Gln4244=) | |
19 | g.38565069G>C | CA405671039 | RYR1 | c.1145G>C c.1127G>C c.12735G>C (p.Gln4245His) c.12720G>C (p.Gln4240His) c.12717G>C (p.Gln4239His) c.6104G>C c.12702G>C (p.Gln4234His) c.12732G>C (p.Gln4244His) | |
19 | g.38565069G>T | CA405671040 | RYR1 | c.1145G>T c.1127G>T c.12735G>T (p.Gln4245His) c.12720G>T (p.Gln4240His) c.12717G>T (p.Gln4239His) c.6104G>T c.12702G>T (p.Gln4234His) c.12732G>T (p.Gln4244His) | gnomAD v4 |
19 | g.38565070A>C | CA405671041 | RYR1 | c.1146A>C c.1128A>C c.12736A>C (p.Ile4246Leu) c.12721A>C (p.Ile4241Leu) c.12718A>C (p.Ile4240Leu) c.6105A>C c.12703A>C (p.Ile4235Leu) c.12733A>C (p.Ile4245Leu) | |
19 | g.38565070A>G | CA405671042 | RYR1 | c.1146A>G c.1128A>G c.12736A>G (p.Ile4246Val) c.12721A>G (p.Ile4241Val) c.12718A>G (p.Ile4240Val) c.6105A>G c.12703A>G (p.Ile4235Val) c.12733A>G (p.Ile4245Val) | |
19 | g.38565070A>T | CA405671043 | RYR1 | c.1146A>T c.1128A>T c.12736A>T (p.Ile4246Phe) c.12721A>T (p.Ile4241Phe) c.12718A>T (p.Ile4240Phe) c.6105A>T c.12703A>T (p.Ile4235Phe) c.12733A>T (p.Ile4245Phe) | |
19 | g.38565071T>A | CA405671044 | RYR1 | c.1147T>A c.1129T>A c.12737T>A (p.Ile4246Asn) c.12722T>A (p.Ile4241Asn) c.12719T>A (p.Ile4240Asn) c.6106T>A c.12704T>A (p.Ile4235Asn) c.12734T>A (p.Ile4245Asn) | gnomAD v4 |
19 | g.38565071T>C | CA405671045 | RYR1 | c.1147T>C c.1129T>C c.12737T>C (p.Ile4246Thr) c.12722T>C (p.Ile4241Thr) c.12719T>C (p.Ile4240Thr) c.6106T>C c.12704T>C (p.Ile4235Thr) c.12734T>C (p.Ile4245Thr) | |
19 | g.38565071T>G | CA405671046 | RYR1 | c.1147T>G c.1129T>G c.12737T>G (p.Ile4246Ser) c.12722T>G (p.Ile4241Ser) c.12719T>G (p.Ile4240Ser) c.6106T>G c.12704T>G (p.Ile4235Ser) c.12734T>G (p.Ile4245Ser) | |
19 | g.38565072C>A | CA507355495 | RYR1 | c.1148C>A c.1130C>A c.12738C>A (p.Ile4246=) c.12723C>A (p.Ile4241=) c.12720C>A (p.Ile4240=) c.6107C>A c.12705C>A (p.Ile4235=) c.12735C>A (p.Ile4245=) | gnomAD v4 |
19 | g.38565072C= | CA2335084614 | RYR1 | c.1148C= c.1130C= c.12738C= (p.Ile4246=) c.12723C= (p.Ile4241=) c.12720C= (p.Ile4240=) c.6107C= c.12705C= (p.Ile4235=) c.12735C= (p.Ile4245=) | |
19 | g.38565072C>G | CA405671047 | RYR1 | c.1148C>G c.1130C>G c.12738C>G (p.Ile4246Met) c.12723C>G (p.Ile4241Met) c.12720C>G (p.Ile4240Met) c.6107C>G c.12705C>G (p.Ile4235Met) c.12735C>G (p.Ile4245Met) | gnomAD v4 |
19 | g.38565072C>T | CA059362 | RYR1 | c.1148C>T c.1130C>T c.12738C>T (p.Ile4246=) c.12723C>T (p.Ile4241=) c.12720C>T (p.Ile4240=) c.6107C>T c.12705C>T (p.Ile4235=) c.12735C>T (p.Ile4245=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565073G>A | CA405671048 | RYR1 | c.1149G>A c.1131G>A c.12739G>A (p.Ala4247Thr) c.12724G>A (p.Ala4242Thr) c.12721G>A (p.Ala4241Thr) c.6108G>A c.12706G>A (p.Ala4236Thr) c.12736G>A (p.Ala4246Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565073G>C | CA405671050 | RYR1 | c.1149G>C c.1131G>C c.12739G>C (p.Ala4247Pro) c.12724G>C (p.Ala4242Pro) c.12721G>C (p.Ala4241Pro) c.6108G>C c.12706G>C (p.Ala4236Pro) c.12736G>C (p.Ala4246Pro) | |
19 | g.38565073G= | CA2335084615 | RYR1 | c.1149G= c.1131G= c.12739G= (p.Ala4247=) c.12724G= (p.Ala4242=) c.12721G= (p.Ala4241=) c.6108G= c.12706G= (p.Ala4236=) c.12736G= (p.Ala4246=) | |
19 | g.38565073G>T | CA405671049 | RYR1 | c.1149G>T c.1131G>T c.12739G>T (p.Ala4247Ser) c.12724G>T (p.Ala4242Ser) c.12721G>T (p.Ala4241Ser) c.6108G>T c.12706G>T (p.Ala4236Ser) c.12736G>T (p.Ala4246Ser) | |
19 | g.38565074C>A | CA405671051 | RYR1 | c.1150C>A c.1132C>A c.12740C>A (p.Ala4247Asp) c.12725C>A (p.Ala4242Asp) c.12722C>A (p.Ala4241Asp) c.6109C>A c.12707C>A (p.Ala4236Asp) c.12737C>A (p.Ala4246Asp) | gnomAD v4 |
19 | g.38565074C>G | CA405671052 | RYR1 | c.1150C>G c.1132C>G c.12740C>G (p.Ala4247Gly) c.12725C>G (p.Ala4242Gly) c.12722C>G (p.Ala4241Gly) c.6109C>G c.12707C>G (p.Ala4236Gly) c.12737C>G (p.Ala4246Gly) | |
19 | g.38565074C>T | CA405671053 | RYR1 | c.1150C>T c.1132C>T c.12740C>T (p.Ala4247Val) c.12725C>T (p.Ala4242Val) c.12722C>T (p.Ala4241Val) c.6109C>T c.12707C>T (p.Ala4236Val) c.12737C>T (p.Ala4246Val) | gnomAD v4 |
19 | g.38565075C>A | CA507355506 | RYR1 | c.1151C>A c.1133C>A c.12741C>A (p.Ala4247=) c.12726C>A (p.Ala4242=) c.12723C>A (p.Ala4241=) c.6110C>A c.12708C>A (p.Ala4236=) c.12738C>A (p.Ala4246=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565075C= | CA2335084616 | RYR1 | c.1151C= c.1133C= c.12741C= (p.Ala4247=) c.12726C= (p.Ala4242=) c.12723C= (p.Ala4241=) c.6110C= c.12708C= (p.Ala4236=) c.12738C= (p.Ala4246=) | |
19 | g.38565075C>G | CA507355507 | RYR1 | c.1151C>G c.1133C>G c.12741C>G (p.Ala4247=) c.12726C>G (p.Ala4242=) c.12723C>G (p.Ala4241=) c.6110C>G c.12708C>G (p.Ala4236=) c.12738C>G (p.Ala4246=) | |
19 | g.38565075C>T | CA024003 | RYR1 | c.1151C>T c.1133C>T c.12741C>T (p.Ala4247=) c.12726C>T (p.Ala4242=) c.12723C>T (p.Ala4241=) c.6110C>T c.12708C>T (p.Ala4236=) c.12738C>T (p.Ala4246=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565076G>A | CA405671054 | RYR1 | c.1152G>A c.1134G>A c.12742G>A (p.Ala4248Thr) c.12727G>A (p.Ala4243Thr) c.12724G>A (p.Ala4242Thr) c.6111G>A c.12709G>A (p.Ala4237Thr) c.12739G>A (p.Ala4247Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565076G>C | CA405671055 | RYR1 | c.1152G>C c.1134G>C c.12742G>C (p.Ala4248Pro) c.12727G>C (p.Ala4243Pro) c.12724G>C (p.Ala4242Pro) c.6111G>C c.12709G>C (p.Ala4237Pro) c.12739G>C (p.Ala4247Pro) | |
19 | g.38565076G= | CA2335084617 | RYR1 | c.1152G= c.1134G= c.12742G= (p.Ala4248=) c.12727G= (p.Ala4243=) c.12724G= (p.Ala4242=) c.6111G= c.12709G= (p.Ala4237=) c.12739G= (p.Ala4247=) | |
19 | g.38565076G>T | CA405671056 | RYR1 | c.1152G>T c.1134G>T c.12742G>T (p.Ala4248Ser) c.12727G>T (p.Ala4243Ser) c.12724G>T (p.Ala4242Ser) c.6111G>T c.12709G>T (p.Ala4237Ser) c.12739G>T (p.Ala4247Ser) | gnomAD v4 |
19 | g.38565077C>A | CA405671057 | RYR1 | c.1153C>A c.1135C>A c.12743C>A (p.Ala4248Glu) c.12728C>A (p.Ala4243Glu) c.12725C>A (p.Ala4242Glu) c.6112C>A c.12710C>A (p.Ala4237Glu) c.12740C>A (p.Ala4247Glu) | gnomAD v4 |
19 | g.38565077C= | CA2335084618 | RYR1 | c.1153C= c.1135C= c.12743C= (p.Ala4248=) c.12728C= (p.Ala4243=) c.12725C= (p.Ala4242=) c.6112C= c.12710C= (p.Ala4237=) c.12740C= (p.Ala4247=) | |
19 | g.38565077C>G | CA405671058 | RYR1 | c.1153C>G c.1135C>G c.12743C>G (p.Ala4248Gly) c.12728C>G (p.Ala4243Gly) c.12725C>G (p.Ala4242Gly) c.6112C>G c.12710C>G (p.Ala4237Gly) c.12740C>G (p.Ala4247Gly) | gnomAD v4 |
19 | g.38565077C>T | CA405671059 | RYR1 | c.1153C>T c.1135C>T c.12743C>T (p.Ala4248Val) c.12728C>T (p.Ala4243Val) c.12725C>T (p.Ala4242Val) c.6112C>T c.12710C>T (p.Ala4237Val) c.12740C>T (p.Ala4247Val) | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.38565078G>A | CA507355510 | RYR1 | c.1154G>A c.1136G>A c.12744G>A (p.Ala4248=) c.12729G>A (p.Ala4243=) c.12726G>A (p.Ala4242=) c.6113G>A c.12711G>A (p.Ala4237=) c.12741G>A (p.Ala4247=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565078G>C | CA507355511 | RYR1 | c.1154G>C c.1136G>C c.12744G>C (p.Ala4248=) c.12729G>C (p.Ala4243=) c.12726G>C (p.Ala4242=) c.6113G>C c.12711G>C (p.Ala4237=) c.12741G>C (p.Ala4247=) | |
19 | g.38565078G= | CA2335084619 | RYR1 | c.1154G= c.1136G= c.12744G= (p.Ala4248=) c.12729G= (p.Ala4243=) c.12726G= (p.Ala4242=) c.6113G= c.12711G= (p.Ala4237=) c.12741G= (p.Ala4247=) | |
19 | g.38565078G>T | CA507355512 | RYR1 | c.1154G>T c.1136G>T c.12744G>T (p.Ala4248=) c.12729G>T (p.Ala4243=) c.12726G>T (p.Ala4242=) c.6113G>T c.12711G>T (p.Ala4237=) c.12741G>T (p.Ala4247=) | ClinVar gnomAD v4 |
19 | g.38565079C>A | CA405671062 | RYR1 | c.1155C>A c.1137C>A c.12745C>A (p.Gln4249Lys) c.12730C>A (p.Gln4244Lys) c.12727C>A (p.Gln4243Lys) c.6114C>A c.12712C>A (p.Gln4238Lys) c.12742C>A (p.Gln4248Lys) | gnomAD v4 |
19 | g.38565079C>G | CA405671061 | RYR1 | c.1155C>G c.1137C>G c.12745C>G (p.Gln4249Glu) c.12730C>G (p.Gln4244Glu) c.12727C>G (p.Gln4243Glu) c.6114C>G c.12712C>G (p.Gln4238Glu) c.12742C>G (p.Gln4248Glu) | |
19 | g.38565079C>T | CA405671060 | RYR1 | c.1155C>T c.1137C>T c.12745C>T (p.Gln4249Ter) c.12730C>T (p.Gln4244Ter) c.12727C>T (p.Gln4243Ter) c.6114C>T c.12712C>T (p.Gln4238Ter) c.12742C>T (p.Gln4248Ter) | gnomAD v4 |
19 | g.38565080A= | CA2335084620 | RYR1 | c.1156A= c.1138A= c.12746A= (p.Gln4249=) c.12731A= (p.Gln4244=) c.12728A= (p.Gln4243=) c.6115A= c.12713A= (p.Gln4238=) c.12743A= (p.Gln4248=) | |
19 | g.38565080A>C | CA405671063 | RYR1 | c.1156A>C c.1138A>C c.12746A>C (p.Gln4249Pro) c.12731A>C (p.Gln4244Pro) c.12728A>C (p.Gln4243Pro) c.6115A>C c.12713A>C (p.Gln4238Pro) c.12743A>C (p.Gln4248Pro) | dbSNP |
19 | g.38565080A>G | CA059379 | RYR1 | c.1156A>G c.1138A>G c.12746A>G (p.Gln4249Arg) c.12731A>G (p.Gln4244Arg) c.12728A>G (p.Gln4243Arg) c.6115A>G c.12713A>G (p.Gln4238Arg) c.12743A>G (p.Gln4248Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38565080A>T | CA405671064 | RYR1 | c.1156A>T c.1138A>T c.12746A>T (p.Gln4249Leu) c.12731A>T (p.Gln4244Leu) c.12728A>T (p.Gln4243Leu) c.6115A>T c.12713A>T (p.Gln4238Leu) c.12743A>T (p.Gln4248Leu) | |
19 | g.38565081G>A | CA507355518 | RYR1 | c.1157G>A c.1139G>A c.12747G>A (p.Gln4249=) c.12732G>A (p.Gln4244=) c.12729G>A (p.Gln4243=) c.6116G>A c.12714G>A (p.Gln4238=) c.12744G>A (p.Gln4248=) | |
19 | g.38565081G>C | CA405671065 | RYR1 | c.1157G>C c.1139G>C c.12747G>C (p.Gln4249His) c.12732G>C (p.Gln4244His) c.12729G>C (p.Gln4243His) c.6116G>C c.12714G>C (p.Gln4238His) c.12744G>C (p.Gln4248His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565081G= | CA2335084621 | RYR1 | c.1157G= c.1139G= c.12747G= (p.Gln4249=) c.12732G= (p.Gln4244=) c.12729G= (p.Gln4243=) c.6116G= c.12714G= (p.Gln4238=) c.12744G= (p.Gln4248=) | |
19 | g.38565081G>T | CA405671066 | RYR1 | c.1157G>T c.1139G>T c.12747G>T (p.Gln4249His) c.12732G>T (p.Gln4244His) c.12729G>T (p.Gln4243His) c.6116G>T c.12714G>T (p.Gln4238His) c.12744G>T (p.Gln4248His) | gnomAD v4 |
19 | g.38565082A= | CA2335084622 | RYR1 | c.1158A= c.1140A= c.12748A= (p.Ile4250=) c.12733A= (p.Ile4245=) c.12730A= (p.Ile4244=) c.6117A= c.12715A= (p.Ile4239=) c.12745A= (p.Ile4249=) | |
19 | g.38565082A>C | CA405671067 | RYR1 | c.1158A>C c.1140A>C c.12748A>C (p.Ile4250Leu) c.12733A>C (p.Ile4245Leu) c.12730A>C (p.Ile4244Leu) c.6117A>C c.12715A>C (p.Ile4239Leu) c.12745A>C (p.Ile4249Leu) | |
19 | g.38565082A>G | CA405671068 | RYR1 | c.1158A>G c.1140A>G c.12748A>G (p.Ile4250Val) c.12733A>G (p.Ile4245Val) c.12730A>G (p.Ile4244Val) c.6117A>G c.12715A>G (p.Ile4239Val) c.12745A>G (p.Ile4249Val) | |
19 | g.38565082A>T | CA059388 | RYR1 | c.1158A>T c.1140A>T c.12748A>T (p.Ile4250Phe) c.12733A>T (p.Ile4245Phe) c.12730A>T (p.Ile4244Phe) c.6117A>T c.12715A>T (p.Ile4239Phe) c.12745A>T (p.Ile4249Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38565083T>A | CA405671069 | RYR1 | c.1159T>A c.1141T>A c.12749T>A (p.Ile4250Asn) c.12734T>A (p.Ile4245Asn) c.12731T>A (p.Ile4244Asn) c.6118T>A c.12716T>A (p.Ile4239Asn) c.12746T>A (p.Ile4249Asn) | gnomAD v4 |
19 | g.38565083T>C | CA405671070 | RYR1 | c.1159T>C c.1141T>C c.12749T>C (p.Ile4250Thr) c.12734T>C (p.Ile4245Thr) c.12731T>C (p.Ile4244Thr) c.6118T>C c.12716T>C (p.Ile4239Thr) c.12746T>C (p.Ile4249Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565083T>G | CA405671071 | RYR1 | c.1159T>G c.1141T>G c.12749T>G (p.Ile4250Ser) c.12734T>G (p.Ile4245Ser) c.12731T>G (p.Ile4244Ser) c.6118T>G c.12716T>G (p.Ile4239Ser) c.12746T>G (p.Ile4249Ser) | |
19 | g.38565083T= | CA2335084623 | RYR1 | c.1159T= c.1141T= c.12749T= (p.Ile4250=) c.12734T= (p.Ile4245=) c.12731T= (p.Ile4244=) c.6118T= c.12716T= (p.Ile4239=) c.12746T= (p.Ile4249=) | |
19 | g.38565084C>A | CA059395 | RYR1 | c.1160C>A c.1142C>A c.12750C>A (p.Ile4250=) c.12735C>A (p.Ile4245=) c.12732C>A (p.Ile4244=) c.6119C>A c.12717C>A (p.Ile4239=) c.12747C>A (p.Ile4249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565084C= | CA2335084624 | RYR1 | c.1160C= c.1142C= c.12750C= (p.Ile4250=) c.12735C= (p.Ile4245=) c.12732C= (p.Ile4244=) c.6119C= c.12717C= (p.Ile4239=) c.12747C= (p.Ile4249=) | |
19 | g.38565084C>G | CA405671072 | RYR1 | c.1160C>G c.1142C>G c.12750C>G (p.Ile4250Met) c.12735C>G (p.Ile4245Met) c.12732C>G (p.Ile4244Met) c.6119C>G c.12717C>G (p.Ile4239Met) c.12747C>G (p.Ile4249Met) | |
19 | g.38565084C>T | CA308109119 | RYR1 | c.1160C>T c.1142C>T c.12750C>T (p.Ile4250=) c.12735C>T (p.Ile4245=) c.12732C>T (p.Ile4244=) c.6119C>T c.12717C>T (p.Ile4239=) c.12747C>T (p.Ile4249=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565085T>A | CA405671075 | RYR1 | c.1161T>A c.1143T>A c.12751T>A (p.Ser4251Thr) c.12736T>A (p.Ser4246Thr) c.12733T>A (p.Ser4245Thr) c.6120T>A c.12718T>A (p.Ser4240Thr) c.12748T>A (p.Ser4250Thr) | |
19 | g.38565085T>C | CA405671074 | RYR1 | c.1161T>C c.1143T>C c.12751T>C (p.Ser4251Pro) c.12736T>C (p.Ser4246Pro) c.12733T>C (p.Ser4245Pro) c.6120T>C c.12718T>C (p.Ser4240Pro) c.12748T>C (p.Ser4250Pro) | gnomAD v4 |
19 | g.38565085T>G | CA405671073 | RYR1 | c.1161T>G c.1143T>G c.12751T>G (p.Ser4251Ala) c.12736T>G (p.Ser4246Ala) c.12733T>G (p.Ser4245Ala) c.6120T>G c.12718T>G (p.Ser4240Ala) c.12748T>G (p.Ser4250Ala) | |
19 | g.38565086C>A | CA405671076 | RYR1 | c.1162C>A c.1144C>A c.12752C>A (p.Ser4251Ter) c.12737C>A (p.Ser4246Ter) c.12734C>A (p.Ser4245Ter) c.6121C>A c.12719C>A (p.Ser4240Ter) c.12749C>A (p.Ser4250Ter) | gnomAD v4 |
19 | g.38565086C= | CA2335084625 | RYR1 | c.1162C= c.1144C= c.12752C= (p.Ser4251=) c.12737C= (p.Ser4246=) c.12734C= (p.Ser4245=) c.6121C= c.12719C= (p.Ser4240=) c.12749C= (p.Ser4250=) | |
19 | g.38565086C>G | CA405671077 | RYR1 | c.1162C>G c.1144C>G c.12752C>G (p.Ser4251Trp) c.12737C>G (p.Ser4246Trp) c.12734C>G (p.Ser4245Trp) c.6121C>G c.12719C>G (p.Ser4240Trp) c.12749C>G (p.Ser4250Trp) | ClinVar dbSNP |
19 | g.38565086C>T | CA308109126 | RYR1 | c.1162C>T c.1144C>T c.12752C>T (p.Ser4251Leu) c.12737C>T (p.Ser4246Leu) c.12734C>T (p.Ser4245Leu) c.6121C>T c.12719C>T (p.Ser4240Leu) c.12749C>T (p.Ser4250Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565087G>A | CA507355530 | RYR1 | c.1163G>A c.1145G>A c.12753G>A (p.Ser4251=) c.12738G>A (p.Ser4246=) c.12735G>A (p.Ser4245=) c.6122G>A c.12720G>A (p.Ser4240=) c.12750G>A (p.Ser4250=) | gnomAD v4 |
19 | g.38565087G>C | CA507355532 | RYR1 | c.1163G>C c.1145G>C c.12753G>C (p.Ser4251=) c.12738G>C (p.Ser4246=) c.12735G>C (p.Ser4245=) c.6122G>C c.12720G>C (p.Ser4240=) c.12750G>C (p.Ser4250=) | |
19 | g.38565087G>T | CA507355534 | RYR1 | c.1163G>T c.1145G>T c.12753G>T (p.Ser4251=) c.12738G>T (p.Ser4246=) c.12735G>T (p.Ser4245=) c.6122G>T c.12720G>T (p.Ser4240=) c.12750G>T (p.Ser4250=) | gnomAD v4 |
19 | g.38565088G>A | CA405671078 | RYR1 | c.1164G>A c.1146G>A c.12754G>A (p.Glu4252Lys) c.12739G>A (p.Glu4247Lys) c.12736G>A (p.Glu4246Lys) c.6123G>A c.12721G>A (p.Glu4241Lys) c.12751G>A (p.Glu4251Lys) | |
19 | g.38565088G>C | CA405671079 | RYR1 | c.1164G>C c.1146G>C c.12754G>C (p.Glu4252Gln) c.12739G>C (p.Glu4247Gln) c.12736G>C (p.Glu4246Gln) c.6123G>C c.12721G>C (p.Glu4241Gln) c.12751G>C (p.Glu4251Gln) | ClinVar dbSNP gnomAD v4 |
19 | g.38565088G= | CA2335084626 | RYR1 | c.1164G= c.1146G= c.12754G= (p.Glu4252=) c.12739G= (p.Glu4247=) c.12736G= (p.Glu4246=) c.6123G= c.12721G= (p.Glu4241=) c.12751G= (p.Glu4251=) | |
19 | g.38565088G>T | CA405671080 | RYR1 | c.1164G>T c.1146G>T c.12754G>T (p.Glu4252Ter) c.12739G>T (p.Glu4247Ter) c.12736G>T (p.Glu4246Ter) c.6123G>T c.12721G>T (p.Glu4241Ter) c.12751G>T (p.Glu4251Ter) | gnomAD v4 |
19 | g.38565089A>C | CA405671081 | RYR1 | c.1165A>C c.1147A>C c.12755A>C (p.Glu4252Ala) c.12740A>C (p.Glu4247Ala) c.12737A>C (p.Glu4246Ala) c.6124A>C c.12722A>C (p.Glu4241Ala) c.12752A>C (p.Glu4251Ala) | |
19 | g.38565089A>G | CA405671082 | RYR1 | c.1165A>G c.1147A>G c.12755A>G (p.Glu4252Gly) c.12740A>G (p.Glu4247Gly) c.12737A>G (p.Glu4246Gly) c.6124A>G c.12722A>G (p.Glu4241Gly) c.12752A>G (p.Glu4251Gly) | gnomAD v4 |
19 | g.38565089A>T | CA405671083 | RYR1 | c.1165A>T c.1147A>T c.12755A>T (p.Glu4252Val) c.12740A>T (p.Glu4247Val) c.12737A>T (p.Glu4246Val) c.6124A>T c.12722A>T (p.Glu4241Val) c.12752A>T (p.Glu4251Val) | |
19 | g.38565090G>A | CA507355540 | RYR1 | c.1166G>A c.1148G>A c.12756G>A (p.Glu4252=) c.12741G>A (p.Glu4247=) c.12738G>A (p.Glu4246=) c.6125G>A c.12723G>A (p.Glu4241=) c.12753G>A (p.Glu4251=) | gnomAD v4 |
19 | g.38565090G>C | CA405671084 | RYR1 | c.1166G>C c.1148G>C c.12756G>C (p.Glu4252Asp) c.12741G>C (p.Glu4247Asp) c.12738G>C (p.Glu4246Asp) c.6125G>C c.12723G>C (p.Glu4241Asp) c.12753G>C (p.Glu4251Asp) | |
19 | g.38565090G>T | CA405671085 | RYR1 | c.1166G>T c.1148G>T c.12756G>T (p.Glu4252Asp) c.12741G>T (p.Glu4247Asp) c.12738G>T (p.Glu4246Asp) c.6125G>T c.12723G>T (p.Glu4241Asp) c.12753G>T (p.Glu4251Asp) | gnomAD v4 |
19 | g.38565091C>A | CA405671088 | RYR1 | c.1167C>A c.1149C>A c.12757C>A (p.Pro4253Thr) c.12742C>A (p.Pro4248Thr) c.12739C>A (p.Pro4247Thr) c.6126C>A c.12724C>A (p.Pro4242Thr) c.12754C>A (p.Pro4252Thr) | gnomAD v4 |
19 | g.38565091C= | CA2335084627 | RYR1 | c.1167C= c.1149C= c.12757C= (p.Pro4253=) c.12742C= (p.Pro4248=) c.12739C= (p.Pro4247=) c.6126C= c.12724C= (p.Pro4242=) c.12754C= (p.Pro4252=) | |
19 | g.38565091C>G | CA405671087 | RYR1 | c.1167C>G c.1149C>G c.12757C>G (p.Pro4253Ala) c.12742C>G (p.Pro4248Ala) c.12739C>G (p.Pro4247Ala) c.6126C>G c.12724C>G (p.Pro4242Ala) c.12754C>G (p.Pro4252Ala) | dbSNP |
19 | g.38565091C>T | CA405671086 | RYR1 | c.1167C>T c.1149C>T c.12757C>T (p.Pro4253Ser) c.12742C>T (p.Pro4248Ser) c.12739C>T (p.Pro4247Ser) c.6126C>T c.12724C>T (p.Pro4242Ser) c.12754C>T (p.Pro4252Ser) | gnomAD v4 |
19 | g.38565093dup | CA2814346027 | RYR1 | c.1169dup c.1151dup c.12759dup (p.Glu4254ArgfsTer?) c.12744dup (p.Glu4249ArgfsTer?) c.12741dup (p.Glu4248ArgfsTer?) c.6128dup c.12726dup (p.Glu4243ArgfsTer?) c.12756dup (p.Glu4253ArgfsTer?) | |
19 | g.38565093del | CA2580097177 | RYR1 | c.1169del c.1151del c.12759del (p.Glu4254ArgfsTer?) c.12744del (p.Glu4249ArgfsTer?) c.12741del (p.Glu4248ArgfsTer?) c.6128del c.12726del (p.Glu4243ArgfsTer?) c.12756del (p.Glu4253ArgfsTer?) | ClinVar |
19 | g.38565092C>A | CA405671089 | RYR1 | c.1168C>A c.1150C>A c.12758C>A (p.Pro4253His) c.12743C>A (p.Pro4248His) c.12740C>A (p.Pro4247His) c.6127C>A c.12725C>A (p.Pro4242His) c.12755C>A (p.Pro4252His) | dbSNP gnomAD v4 |
19 | g.38565092C= | CA2335084629 | RYR1 | c.1168C= c.1150C= c.12758C= (p.Pro4253=) c.12743C= (p.Pro4248=) c.12740C= (p.Pro4247=) c.6127C= c.12725C= (p.Pro4242=) c.12755C= (p.Pro4252=) | |
19 | g.38565092C>G | CA405671090 | RYR1 | c.1168C>G c.1150C>G c.12758C>G (p.Pro4253Arg) c.12743C>G (p.Pro4248Arg) c.12740C>G (p.Pro4247Arg) c.6127C>G c.12725C>G (p.Pro4242Arg) c.12755C>G (p.Pro4252Arg) | gnomAD v4 |
19 | g.38565092C>T | CA405671091 | RYR1 | c.1168C>T c.1150C>T c.12758C>T (p.Pro4253Leu) c.12743C>T (p.Pro4248Leu) c.12740C>T (p.Pro4247Leu) c.6127C>T c.12725C>T (p.Pro4242Leu) c.12755C>T (p.Pro4252Leu) | |
19 | g.38565092_38565119delinsCCGAGGGCGAGCCGGAGACCGACGAGGA | CA2335084628 | RYR1 | c.1168_1195delinsCCGAGGGCGAGCCGGAGACCGACGAGGA c.1150_1177delinsCCGAGGGCGAGCCGGAGACCGACGAGGA c.12758_12785delinsCCGAGGGCGAGCCGGAGACCGACGAGGA (p.Pro4253=) c.12743_12770delinsCCGAGGGCGAGCCGGAGACCGACGAGGA (p.Pro4248=) c.12740_12767delinsCCGAGGGCGAGCCGGAGACCGACGAGGA (p.Pro4247=) c.6127_6154delinsCCGAGGGCGAGCCGGAGACCGACGAGGA c.12725_12752delinsCCGAGGGCGAGCCGGAGACCGACGAGGA (p.Pro4242=) c.12755_12782delinsCCGAGGGCGAGCCGGAGACCGACGAGGA (p.Pro4252=) | |
19 | g.38565093C>A | CA507355550 | RYR1 | c.1169C>A c.1151C>A c.12759C>A (p.Pro4253=) c.12744C>A (p.Pro4248=) c.12741C>A (p.Pro4247=) c.6128C>A c.12726C>A (p.Pro4242=) c.12756C>A (p.Pro4252=) | gnomAD v4 |
19 | g.38565093C= | CA2335084630 | RYR1 | c.1169C= c.1151C= c.12759C= (p.Pro4253=) c.12744C= (p.Pro4248=) c.12741C= (p.Pro4247=) c.6128C= c.12726C= (p.Pro4242=) c.12756C= (p.Pro4252=) | |
19 | g.38565093C>G | CA507355549 | RYR1 | c.1169C>G c.1151C>G c.12759C>G (p.Pro4253=) c.12744C>G (p.Pro4248=) c.12741C>G (p.Pro4247=) c.6128C>G c.12726C>G (p.Pro4242=) c.12756C>G (p.Pro4252=) | |
19 | g.38565093C>T | CA10587331 | RYR1 | c.1169C>T c.1151C>T c.12759C>T (p.Pro4253=) c.12744C>T (p.Pro4248=) c.12741C>T (p.Pro4247=) c.6128C>T c.12726C>T (p.Pro4242=) c.12756C>T (p.Pro4252=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38565093_38565123del | CA2573156310 | RYR1 | c.1169_1199del c.1151_1181del c.12759_12789del (p.Glu4254AlafsTer?) c.12744_12774del (p.Glu4249AlafsTer?) c.12741_12771del (p.Glu4248AlafsTer?) c.6128_6158del c.12726_12756del (p.Glu4243AlafsTer?) c.12756_12786del (p.Glu4253AlafsTer?) | dbSNP |
19 | g.38565101_38565127del | CA633066811 | RYR1 | c.1177_1203del c.1159_1185del c.12767_12793del (p.Glu4256_Gly4264del) c.12752_12778del (p.Glu4251_Gly4259del) c.12749_12775del (p.Glu4250_Gly4258del) c.6136_6162del c.12734_12760del (p.Glu4245_Gly4253del) c.12764_12790del (p.Glu4255_Gly4263del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565094G>A | CA405671092 | RYR1 | c.1170G>A c.1152G>A c.12760G>A (p.Glu4254Lys) c.12745G>A (p.Glu4249Lys) c.12742G>A (p.Glu4248Lys) c.6129G>A c.12727G>A (p.Glu4243Lys) c.12757G>A (p.Glu4253Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565094G>C | CA405671093 | RYR1 | c.1170G>C c.1152G>C c.12760G>C (p.Glu4254Gln) c.12745G>C (p.Glu4249Gln) c.12742G>C (p.Glu4248Gln) c.6129G>C c.12727G>C (p.Glu4243Gln) c.12757G>C (p.Glu4253Gln) | gnomAD v4 |
19 | g.38565094G= | CA2335084631 | RYR1 | c.1170G= c.1152G= c.12760G= (p.Glu4254=) c.12745G= (p.Glu4249=) c.12742G= (p.Glu4248=) c.6129G= c.12727G= (p.Glu4243=) c.12757G= (p.Glu4253=) | |
19 | g.38565094G>T | CA405671094 | RYR1 | c.1170G>T c.1152G>T c.12760G>T (p.Glu4254Ter) c.12745G>T (p.Glu4249Ter) c.12742G>T (p.Glu4248Ter) c.6129G>T c.12727G>T (p.Glu4243Ter) c.12757G>T (p.Glu4253Ter) | gnomAD v4 |
19 | g.38565095A>C | CA405671095 | RYR1 | c.1171A>C c.1153A>C c.12761A>C (p.Glu4254Ala) c.12746A>C (p.Glu4249Ala) c.12743A>C (p.Glu4248Ala) c.6130A>C c.12728A>C (p.Glu4243Ala) c.12758A>C (p.Glu4253Ala) | |
19 | g.38565095A>G | CA405671096 | RYR1 | c.1171A>G c.1153A>G c.12761A>G (p.Glu4254Gly) c.12746A>G (p.Glu4249Gly) c.12743A>G (p.Glu4248Gly) c.6130A>G c.12728A>G (p.Glu4243Gly) c.12758A>G (p.Glu4253Gly) | gnomAD v4 |
19 | g.38565095A>T | CA405671097 | RYR1 | c.1171A>T c.1153A>T c.12761A>T (p.Glu4254Val) c.12746A>T (p.Glu4249Val) c.12743A>T (p.Glu4248Val) c.6130A>T c.12728A>T (p.Glu4243Val) c.12758A>T (p.Glu4253Val) | |
19 | g.38565096G>A | CA507355555 | RYR1 | c.1172G>A c.1154G>A c.12762G>A (p.Glu4254=) c.12747G>A (p.Glu4249=) c.12744G>A (p.Glu4248=) c.6131G>A c.12729G>A (p.Glu4243=) c.12759G>A (p.Glu4253=) | gnomAD v4 |
19 | g.38565096G>C | CA405671098 | RYR1 | c.1172G>C c.1154G>C c.12762G>C (p.Glu4254Asp) c.12747G>C (p.Glu4249Asp) c.12744G>C (p.Glu4248Asp) c.6131G>C c.12729G>C (p.Glu4243Asp) c.12759G>C (p.Glu4253Asp) | gnomAD v4 |
19 | g.38565096G>T | CA405671099 | RYR1 | c.1172G>T c.1154G>T c.12762G>T (p.Glu4254Asp) c.12747G>T (p.Glu4249Asp) c.12744G>T (p.Glu4248Asp) c.6131G>T c.12729G>T (p.Glu4243Asp) c.12759G>T (p.Glu4253Asp) | gnomAD v4 |
19 | g.38565098del | CA2584909109 | RYR1 | c.1174del c.1156del c.12764del (p.Gly4255AlafsTer?) c.12749del (p.Gly4250AlafsTer?) c.12746del (p.Gly4249AlafsTer?) c.6133del c.12731del (p.Gly4244AlafsTer?) c.12761del (p.Gly4254AlafsTer?) | gnomAD v4 |
19 | g.38565097G>A | CA405671102 | RYR1 | c.1173G>A c.1155G>A c.12763G>A (p.Gly4255Ser) c.12748G>A (p.Gly4250Ser) c.12745G>A (p.Gly4249Ser) c.6132G>A c.12730G>A (p.Gly4244Ser) c.12760G>A (p.Gly4254Ser) | ClinVar dbSNP gnomAD v4 |
19 | g.38565097G>C | CA405671101 | RYR1 | c.1173G>C c.1155G>C c.12763G>C (p.Gly4255Arg) c.12748G>C (p.Gly4250Arg) c.12745G>C (p.Gly4249Arg) c.6132G>C c.12730G>C (p.Gly4244Arg) c.12760G>C (p.Gly4254Arg) | |
19 | g.38565097G= | CA2335084632 | RYR1 | c.1173G= c.1155G= c.12763G= (p.Gly4255=) c.12748G= (p.Gly4250=) c.12745G= (p.Gly4249=) c.6132G= c.12730G= (p.Gly4244=) c.12760G= (p.Gly4254=) | |
19 | g.38565097G>T | CA405671100 | RYR1 | c.1173G>T c.1155G>T c.12763G>T (p.Gly4255Cys) c.12748G>T (p.Gly4250Cys) c.12745G>T (p.Gly4249Cys) c.6132G>T c.12730G>T (p.Gly4244Cys) c.12760G>T (p.Gly4254Cys) | gnomAD v4 |
19 | g.38565098G>A | CA405671103 | RYR1 | c.1174G>A c.1156G>A c.12764G>A (p.Gly4255Asp) c.12749G>A (p.Gly4250Asp) c.12746G>A (p.Gly4249Asp) c.6133G>A c.12731G>A (p.Gly4244Asp) c.12761G>A (p.Gly4254Asp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565098G>C | CA405671104 | RYR1 | c.1174G>C c.1156G>C c.12764G>C (p.Gly4255Ala) c.12749G>C (p.Gly4250Ala) c.12746G>C (p.Gly4249Ala) c.6133G>C c.12731G>C (p.Gly4244Ala) c.12761G>C (p.Gly4254Ala) | |
19 | g.38565098G= | CA2335084633 | RYR1 | c.1174G= c.1156G= c.12764G= (p.Gly4255=) c.12749G= (p.Gly4250=) c.12746G= (p.Gly4249=) c.6133G= c.12731G= (p.Gly4244=) c.12761G= (p.Gly4254=) | |
19 | g.38565098G>T | CA405671105 | RYR1 | c.1174G>T c.1156G>T c.12764G>T (p.Gly4255Val) c.12749G>T (p.Gly4250Val) c.12746G>T (p.Gly4249Val) c.6133G>T c.12731G>T (p.Gly4244Val) c.12761G>T (p.Gly4254Val) | gnomAD v4 |
19 | g.38565099C>A | CA507355562 | RYR1 | c.1175C>A c.1157C>A c.12765C>A (p.Gly4255=) c.12750C>A (p.Gly4250=) c.12747C>A (p.Gly4249=) c.6134C>A c.12732C>A (p.Gly4244=) c.12762C>A (p.Gly4254=) | gnomAD v4 |
19 | g.38565099C= | CA2335084634 | RYR1 | c.1175C= c.1157C= c.12765C= (p.Gly4255=) c.12750C= (p.Gly4250=) c.12747C= (p.Gly4249=) c.6134C= c.12732C= (p.Gly4244=) c.12762C= (p.Gly4254=) | |
19 | g.38565099C>G | CA059410 | RYR1 | c.1175C>G c.1157C>G c.12765C>G (p.Gly4255=) c.12750C>G (p.Gly4250=) c.12747C>G (p.Gly4249=) c.6134C>G c.12732C>G (p.Gly4244=) c.12762C>G (p.Gly4254=) | dbSNP ExAC gnomAD v4 |
19 | g.38565099C>T | CA507355563 | RYR1 | c.1175C>T c.1157C>T c.12765C>T (p.Gly4255=) c.12750C>T (p.Gly4250=) c.12747C>T (p.Gly4249=) c.6134C>T c.12732C>T (p.Gly4244=) c.12762C>T (p.Gly4254=) | ClinVar gnomAD v4 |
19 | g.38565100G>A | CA405671106 | RYR1 | c.1176G>A c.1158G>A c.12766G>A (p.Glu4256Lys) c.12751G>A (p.Glu4251Lys) c.12748G>A (p.Glu4250Lys) c.6135G>A c.12733G>A (p.Glu4245Lys) c.12763G>A (p.Glu4255Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565100G>C | CA405671107 | RYR1 | c.1176G>C c.1158G>C c.12766G>C (p.Glu4256Gln) c.12751G>C (p.Glu4251Gln) c.12748G>C (p.Glu4250Gln) c.6135G>C c.12733G>C (p.Glu4245Gln) c.12763G>C (p.Glu4255Gln) | gnomAD v4 |
19 | g.38565100G= | CA2335084635 | RYR1 | c.1176G= c.1158G= c.12766G= (p.Glu4256=) c.12751G= (p.Glu4251=) c.12748G= (p.Glu4250=) c.6135G= c.12733G= (p.Glu4245=) c.12763G= (p.Glu4255=) | |
19 | g.38565100G>T | CA059417 | RYR1 | c.1176G>T c.1158G>T c.12766G>T (p.Glu4256Ter) c.12751G>T (p.Glu4251Ter) c.12748G>T (p.Glu4250Ter) c.6135G>T c.12733G>T (p.Glu4245Ter) c.12763G>T (p.Glu4255Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565101A>C | CA405671108 | RYR1 | c.1177A>C c.1159A>C c.12767A>C (p.Glu4256Ala) c.12752A>C (p.Glu4251Ala) c.12749A>C (p.Glu4250Ala) c.6136A>C c.12734A>C (p.Glu4245Ala) c.12764A>C (p.Glu4255Ala) | |
19 | g.38565101A>G | CA405671109 | RYR1 | c.1177A>G c.1159A>G c.12767A>G (p.Glu4256Gly) c.12752A>G (p.Glu4251Gly) c.12749A>G (p.Glu4250Gly) c.6136A>G c.12734A>G (p.Glu4245Gly) c.12764A>G (p.Glu4255Gly) | |
19 | g.38565101A>T | CA405671110 | RYR1 | c.1177A>T c.1159A>T c.12767A>T (p.Glu4256Val) c.12752A>T (p.Glu4251Val) c.12749A>T (p.Glu4250Val) c.6136A>T c.12734A>T (p.Glu4245Val) c.12764A>T (p.Glu4255Val) | |
19 | g.38565102G>A | CA507355571 | RYR1 | c.1178G>A c.1160G>A c.12768G>A (p.Glu4256=) c.12753G>A (p.Glu4251=) c.12750G>A (p.Glu4250=) c.6137G>A c.12735G>A (p.Glu4245=) c.12765G>A (p.Glu4255=) | gnomAD v4 |
19 | g.38565102G>C | CA405671111 | RYR1 | c.1178G>C c.1160G>C c.12768G>C (p.Glu4256Asp) c.12753G>C (p.Glu4251Asp) c.12750G>C (p.Glu4250Asp) c.6137G>C c.12735G>C (p.Glu4245Asp) c.12765G>C (p.Glu4255Asp) | |
19 | g.38565102G= | CA2335084636 | RYR1 | c.1178G= c.1160G= c.12768G= (p.Glu4256=) c.12753G= (p.Glu4251=) c.12750G= (p.Glu4250=) c.6137G= c.12735G= (p.Glu4245=) c.12765G= (p.Glu4255=) | |
19 | g.38565102G>T | CA405671112 | RYR1 | c.1178G>T c.1160G>T c.12768G>T (p.Glu4256Asp) c.12753G>T (p.Glu4251Asp) c.12750G>T (p.Glu4250Asp) c.6137G>T c.12735G>T (p.Glu4245Asp) c.12765G>T (p.Glu4255Asp) | gnomAD v4 |
19 | g.38565103_38565112del | CA2573156311 | RYR1 | c.1179_1188del c.1161_1170del c.12769_12778del (p.Pro4257ThrfsTer?) c.12754_12763del (p.Pro4252ThrfsTer?) c.12751_12760del (p.Pro4251ThrfsTer?) c.6138_6147del c.12736_12745del (p.Pro4246ThrfsTer?) c.12766_12775del (p.Pro4256ThrfsTer?) | ClinVar dbSNP |
19 | g.38565103C>A | CA405671115 | RYR1 | c.1179C>A c.1161C>A c.12769C>A (p.Pro4257Thr) c.12754C>A (p.Pro4252Thr) c.12751C>A (p.Pro4251Thr) c.6138C>A c.12736C>A (p.Pro4246Thr) c.12766C>A (p.Pro4256Thr) | gnomAD v4 |
19 | g.38565103C= | CA2335084637 | RYR1 | c.1179C= c.1161C= c.12769C= (p.Pro4257=) c.12754C= (p.Pro4252=) c.12751C= (p.Pro4251=) c.6138C= c.12736C= (p.Pro4246=) c.12766C= (p.Pro4256=) | |
19 | g.38565103C>G | CA405671113 | RYR1 | c.1179C>G c.1161C>G c.12769C>G (p.Pro4257Ala) c.12754C>G (p.Pro4252Ala) c.12751C>G (p.Pro4251Ala) c.6138C>G c.12736C>G (p.Pro4246Ala) c.12766C>G (p.Pro4256Ala) | |
19 | g.38565103C>T | CA405671114 | RYR1 | c.1179C>T c.1161C>T c.12769C>T (p.Pro4257Ser) c.12754C>T (p.Pro4252Ser) c.12751C>T (p.Pro4251Ser) c.6138C>T c.12736C>T (p.Pro4246Ser) c.12766C>T (p.Pro4256Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565106_38565112dup | CA633066812 | RYR1 | c.1182_1188dup c.1164_1170dup c.12772_12778dup (p.Asp4260GlyfsTer?) c.12757_12763dup (p.Asp4255GlyfsTer?) c.12754_12760dup (p.Asp4254GlyfsTer?) c.6141_6147dup c.12739_12745dup (p.Asp4249GlyfsTer?) c.12769_12775dup (p.Asp4259GlyfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565104C>A | CA405671116 | RYR1 | c.1180C>A c.1162C>A c.12770C>A (p.Pro4257Gln) c.12755C>A (p.Pro4252Gln) c.12752C>A (p.Pro4251Gln) c.6139C>A c.12737C>A (p.Pro4246Gln) c.12767C>A (p.Pro4256Gln) | gnomAD v4 |
19 | g.38565104C= | CA2335084638 | RYR1 | c.1180C= c.1162C= c.12770C= (p.Pro4257=) c.12755C= (p.Pro4252=) c.12752C= (p.Pro4251=) c.6139C= c.12737C= (p.Pro4246=) c.12767C= (p.Pro4256=) | |
19 | g.38565104C>G | CA405671118 | RYR1 | c.1180C>G c.1162C>G c.12770C>G (p.Pro4257Arg) c.12755C>G (p.Pro4252Arg) c.12752C>G (p.Pro4251Arg) c.6139C>G c.12737C>G (p.Pro4246Arg) c.12767C>G (p.Pro4256Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565104C>T | CA405671117 | RYR1 | c.1180C>T c.1162C>T c.12770C>T (p.Pro4257Leu) c.12755C>T (p.Pro4252Leu) c.12752C>T (p.Pro4251Leu) c.6139C>T c.12737C>T (p.Pro4246Leu) c.12767C>T (p.Pro4256Leu) | ClinVar dbSNP gnomAD v4 |
19 | g.38565105G>A | CA507355575 | RYR1 | c.1181G>A c.1163G>A c.12771G>A (p.Pro4257=) c.12756G>A (p.Pro4252=) c.12753G>A (p.Pro4251=) c.6140G>A c.12738G>A (p.Pro4246=) c.12768G>A (p.Pro4256=) | dbSNP gnomAD v4 |
19 | g.38565105G>C | CA507355576 | RYR1 | c.1181G>C c.1163G>C c.12771G>C (p.Pro4257=) c.12756G>C (p.Pro4252=) c.12753G>C (p.Pro4251=) c.6140G>C c.12738G>C (p.Pro4246=) c.12768G>C (p.Pro4256=) | |
19 | g.38565105G= | CA2335084639 | RYR1 | c.1181G= c.1163G= c.12771G= (p.Pro4257=) c.12756G= (p.Pro4252=) c.12753G= (p.Pro4251=) c.6140G= c.12738G= (p.Pro4246=) c.12768G= (p.Pro4256=) | |
19 | g.38565105G>T | CA507355577 | RYR1 | c.1181G>T c.1163G>T c.12771G>T (p.Pro4257=) c.12756G>T (p.Pro4252=) c.12753G>T (p.Pro4251=) c.6140G>T c.12738G>T (p.Pro4246=) c.12768G>T (p.Pro4256=) | gnomAD v4 |
19 | g.38565106G>A | CA405671119 | RYR1 | c.1182G>A c.1164G>A c.12772G>A (p.Glu4258Lys) c.12757G>A (p.Glu4253Lys) c.12754G>A (p.Glu4252Lys) c.6141G>A c.12739G>A (p.Glu4247Lys) c.12769G>A (p.Glu4257Lys) | gnomAD v4 |
19 | g.38565106G>C | CA405671121 | RYR1 | c.1182G>C c.1164G>C c.12772G>C (p.Glu4258Gln) c.12757G>C (p.Glu4253Gln) c.12754G>C (p.Glu4252Gln) c.6141G>C c.12739G>C (p.Glu4247Gln) c.12769G>C (p.Glu4257Gln) | |
19 | g.38565106G>T | CA405671120 | RYR1 | c.1182G>T c.1164G>T c.12772G>T (p.Glu4258Ter) c.12757G>T (p.Glu4253Ter) c.12754G>T (p.Glu4252Ter) c.6141G>T c.12739G>T (p.Glu4247Ter) c.12769G>T (p.Glu4257Ter) | gnomAD v4 |
19 | g.38565107A= | CA2335084640 | RYR1 | c.1183A= c.1165A= c.12773A= (p.Glu4258=) c.12758A= (p.Glu4253=) c.12755A= (p.Glu4252=) c.6142A= c.12740A= (p.Glu4247=) c.12770A= (p.Glu4257=) | |
19 | g.38565107A>C | CA405671122 | RYR1 | c.1183A>C c.1165A>C c.12773A>C (p.Glu4258Ala) c.12758A>C (p.Glu4253Ala) c.12755A>C (p.Glu4252Ala) c.6142A>C c.12740A>C (p.Glu4247Ala) c.12770A>C (p.Glu4257Ala) | |
19 | g.38565107A>G | CA059421 | RYR1 | c.1183A>G c.1165A>G c.12773A>G (p.Glu4258Gly) c.12758A>G (p.Glu4253Gly) c.12755A>G (p.Glu4252Gly) c.6142A>G c.12740A>G (p.Glu4247Gly) c.12770A>G (p.Glu4257Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38565107A>T | CA405671123 | RYR1 | c.1183A>T c.1165A>T c.12773A>T (p.Glu4258Val) c.12758A>T (p.Glu4253Val) c.12755A>T (p.Glu4252Val) c.6142A>T c.12740A>T (p.Glu4247Val) c.12770A>T (p.Glu4257Val) | |
19 | g.38565108G>A | CA507355578 | RYR1 | c.1184G>A c.1166G>A c.12774G>A (p.Glu4258=) c.12759G>A (p.Glu4253=) c.12756G>A (p.Glu4252=) c.6143G>A c.12741G>A (p.Glu4247=) c.12771G>A (p.Glu4257=) | |
19 | g.38565108G>C | CA405671124 | RYR1 | c.1184G>C c.1166G>C c.12774G>C (p.Glu4258Asp) c.12759G>C (p.Glu4253Asp) c.12756G>C (p.Glu4252Asp) c.6143G>C c.12741G>C (p.Glu4247Asp) c.12771G>C (p.Glu4257Asp) | |
19 | g.38565108G>T | CA405671125 | RYR1 | c.1184G>T c.1166G>T c.12774G>T (p.Glu4258Asp) c.12759G>T (p.Glu4253Asp) c.12756G>T (p.Glu4252Asp) c.6143G>T c.12741G>T (p.Glu4247Asp) c.12771G>T (p.Glu4257Asp) | gnomAD v4 |
19 | g.38565109A>C | CA405671126 | RYR1 | c.1185A>C c.1167A>C c.12775A>C (p.Thr4259Pro) c.12760A>C (p.Thr4254Pro) c.12757A>C (p.Thr4253Pro) c.6144A>C c.12742A>C (p.Thr4248Pro) c.12772A>C (p.Thr4258Pro) | |
19 | g.38565109A>G | CA405671128 | RYR1 | c.1185A>G c.1167A>G c.12775A>G (p.Thr4259Ala) c.12760A>G (p.Thr4254Ala) c.12757A>G (p.Thr4253Ala) c.6144A>G c.12742A>G (p.Thr4248Ala) c.12772A>G (p.Thr4258Ala) | gnomAD v4 |
19 | g.38565109A>T | CA405671127 | RYR1 | c.1185A>T c.1167A>T c.12775A>T (p.Thr4259Ser) c.12760A>T (p.Thr4254Ser) c.12757A>T (p.Thr4253Ser) c.6144A>T c.12742A>T (p.Thr4248Ser) c.12772A>T (p.Thr4258Ser) | |
19 | g.38565110C>A | CA405671129 | RYR1 | c.1186C>A c.1168C>A c.12776C>A (p.Thr4259Asn) c.12761C>A (p.Thr4254Asn) c.12758C>A (p.Thr4253Asn) c.6145C>A c.12743C>A (p.Thr4248Asn) c.12773C>A (p.Thr4258Asn) | gnomAD v4 |
19 | g.38565110C= | CA2335084641 | RYR1 | c.1186C= c.1168C= c.12776C= (p.Thr4259=) c.12761C= (p.Thr4254=) c.12758C= (p.Thr4253=) c.6145C= c.12743C= (p.Thr4248=) c.12773C= (p.Thr4258=) | |
19 | g.38565110C>G | CA059427 | RYR1 | c.1186C>G c.1168C>G c.12776C>G (p.Thr4259Ser) c.12761C>G (p.Thr4254Ser) c.12758C>G (p.Thr4253Ser) c.6145C>G c.12743C>G (p.Thr4248Ser) c.12773C>G (p.Thr4258Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38565110C>T | CA405671130 | RYR1 | c.1186C>T c.1168C>T c.12776C>T (p.Thr4259Ile) c.12761C>T (p.Thr4254Ile) c.12758C>T (p.Thr4253Ile) c.6145C>T c.12743C>T (p.Thr4248Ile) c.12773C>T (p.Thr4258Ile) | ClinVar dbSNP gnomAD v4 |
19 | g.38565111C>A | CA507355582 | RYR1 | c.1187C>A c.1169C>A c.12777C>A (p.Thr4259=) c.12762C>A (p.Thr4254=) c.12759C>A (p.Thr4253=) c.6146C>A c.12744C>A (p.Thr4248=) c.12774C>A (p.Thr4258=) | gnomAD v4 |
19 | g.38565111C>G | CA507355588 | RYR1 | c.1187C>G c.1169C>G c.12777C>G (p.Thr4259=) c.12762C>G (p.Thr4254=) c.12759C>G (p.Thr4253=) c.6146C>G c.12744C>G (p.Thr4248=) c.12774C>G (p.Thr4258=) | |
19 | g.38565111C>T | CA507355590 | RYR1 | c.1187C>T c.1169C>T c.12777C>T (p.Thr4259=) c.12762C>T (p.Thr4254=) c.12759C>T (p.Thr4253=) c.6146C>T c.12744C>T (p.Thr4248=) c.12774C>T (p.Thr4258=) | ClinVar gnomAD v4 |
19 | g.38565111_38565117delinsCGACGAG | CA2335084642 | RYR1 | c.1187_1193delinsCGACGAG c.1169_1175delinsCGACGAG c.12777_12783delinsCGACGAG (p.Thr4259=) c.12762_12768delinsCGACGAG (p.Thr4254=) c.12759_12765delinsCGACGAG (p.Thr4253=) c.6146_6152delinsCGACGAG c.12744_12750delinsCGACGAG (p.Thr4248=) c.12774_12780delinsCGACGAG (p.Thr4258=) | |
19 | g.38565112G>A | CA405671131 | RYR1 | c.1188G>A c.1170G>A c.12778G>A (p.Asp4260Asn) c.12763G>A (p.Asp4255Asn) c.12760G>A (p.Asp4254Asn) c.6147G>A c.12745G>A (p.Asp4249Asn) c.12775G>A (p.Asp4259Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565112G>C | CA405671132 | RYR1 | c.1188G>C c.1170G>C c.12778G>C (p.Asp4260His) c.12763G>C (p.Asp4255His) c.12760G>C (p.Asp4254His) c.6147G>C c.12745G>C (p.Asp4249His) c.12775G>C (p.Asp4259His) | gnomAD v4 |
19 | g.38565112G= | CA2335084643 | RYR1 | c.1188G= c.1170G= c.12778G= (p.Asp4260=) c.12763G= (p.Asp4255=) c.12760G= (p.Asp4254=) c.6147G= c.12745G= (p.Asp4249=) c.12775G= (p.Asp4259=) | |
19 | g.38565112G>T | CA405671133 | RYR1 | c.1188G>T c.1170G>T c.12778G>T (p.Asp4260Tyr) c.12763G>T (p.Asp4255Tyr) c.12760G>T (p.Asp4254Tyr) c.6147G>T c.12745G>T (p.Asp4249Tyr) c.12775G>T (p.Asp4259Tyr) | gnomAD v4 |
19 | g.38565119_38565124dup | CA9415938 | RYR1 | c.1195_1200dup c.1177_1182dup c.12785_12790dup (p.Glu4263_Gly4264insAspGlu) c.12770_12775dup (p.Glu4258_Gly4259insAspGlu) c.12767_12772dup (p.Glu4257_Gly4258insAspGlu) c.6154_6159dup c.12752_12757dup (p.Glu4252_Gly4253insAspGlu) c.12782_12787dup (p.Glu4262_Gly4263insAspGlu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565119_38565124del | CA059432 | RYR1 | c.1195_1200del c.1177_1182del c.12785_12790del (p.Asp4262_Glu4263del) c.12770_12775del (p.Asp4257_Glu4258del) c.12767_12772del (p.Asp4256_Glu4257del) c.6154_6159del c.12752_12757del (p.Asp4251_Glu4252del) c.12782_12787del (p.Asp4261_Glu4262del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565113A>C | CA405671134 | RYR1 | c.1189A>C c.1171A>C c.12779A>C (p.Asp4260Ala) c.12764A>C (p.Asp4255Ala) c.12761A>C (p.Asp4254Ala) c.6148A>C c.12746A>C (p.Asp4249Ala) c.12776A>C (p.Asp4259Ala) | |
19 | g.38565113A>G | CA405671135 | RYR1 | c.1189A>G c.1171A>G c.12779A>G (p.Asp4260Gly) c.12764A>G (p.Asp4255Gly) c.12761A>G (p.Asp4254Gly) c.6148A>G c.12746A>G (p.Asp4249Gly) c.12776A>G (p.Asp4259Gly) | gnomAD v4 |
19 | g.38565113A>T | CA405671136 | RYR1 | c.1189A>T c.1171A>T c.12779A>T (p.Asp4260Val) c.12764A>T (p.Asp4255Val) c.12761A>T (p.Asp4254Val) c.6148A>T c.12746A>T (p.Asp4249Val) c.12776A>T (p.Asp4259Val) | |
19 | g.38565114C>A | CA405671138 | RYR1 | c.1190C>A c.1172C>A c.12780C>A (p.Asp4260Glu) c.12765C>A (p.Asp4255Glu) c.12762C>A (p.Asp4254Glu) c.6149C>A c.12747C>A (p.Asp4249Glu) c.12777C>A (p.Asp4259Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565114C= | CA2335084644 | RYR1 | c.1190C= c.1172C= c.12780C= (p.Asp4260=) c.12765C= (p.Asp4255=) c.12762C= (p.Asp4254=) c.6149C= c.12747C= (p.Asp4249=) c.12777C= (p.Asp4259=) | |
19 | g.38565114C>G | CA405671137 | RYR1 | c.1190C>G c.1172C>G c.12780C>G (p.Asp4260Glu) c.12765C>G (p.Asp4255Glu) c.12762C>G (p.Asp4254Glu) c.6149C>G c.12747C>G (p.Asp4249Glu) c.12777C>G (p.Asp4259Glu) | gnomAD v4 |
19 | g.38565114C>T | CA507355597 | RYR1 | c.1190C>T c.1172C>T c.12780C>T (p.Asp4260=) c.12765C>T (p.Asp4255=) c.12762C>T (p.Asp4254=) c.6149C>T c.12747C>T (p.Asp4249=) c.12777C>T (p.Asp4259=) | ClinVar gnomAD v4 |
19 | g.38565116_38565127dup | CA2584909110 | RYR1 | c.1192_1203dup c.1174_1185dup c.12782_12793dup (p.Gly4264_Ala4265insGluAspGluGly) c.12767_12778dup (p.Gly4259_Ala4260insGluAspGluGly) c.12764_12775dup (p.Gly4258_Ala4259insGluAspGluGly) c.6151_6162dup c.12749_12760dup (p.Gly4253_Ala4254insGluAspGluGly) c.12779_12790dup (p.Gly4263_Ala4264insGluAspGluGly) | gnomAD v4 |
19 | g.38565115G>A | CA405671139 | RYR1 | c.1191G>A c.1173G>A c.12781G>A (p.Glu4261Lys) c.12766G>A (p.Glu4256Lys) c.12763G>A (p.Glu4255Lys) c.6150G>A c.12748G>A (p.Glu4250Lys) c.12778G>A (p.Glu4260Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565115G>C | CA405671140 | RYR1 | c.1191G>C c.1173G>C c.12781G>C (p.Glu4261Gln) c.12766G>C (p.Glu4256Gln) c.12763G>C (p.Glu4255Gln) c.6150G>C c.12748G>C (p.Glu4250Gln) c.12778G>C (p.Glu4260Gln) | gnomAD v4 |
19 | g.38565115G= | CA2335084645 | RYR1 | c.1191G= c.1173G= c.12781G= (p.Glu4261=) c.12766G= (p.Glu4256=) c.12763G= (p.Glu4255=) c.6150G= c.12748G= (p.Glu4250=) c.12778G= (p.Glu4260=) | |
19 | g.38565115G>T | CA405671141 | RYR1 | c.1191G>T c.1173G>T c.12781G>T (p.Glu4261Ter) c.12766G>T (p.Glu4256Ter) c.12763G>T (p.Glu4255Ter) c.6150G>T c.12748G>T (p.Glu4250Ter) c.12778G>T (p.Glu4260Ter) | gnomAD v4 |
19 | g.38565116A= | CA2335084646 | RYR1 | c.1192A= c.1174A= c.12782A= (p.Glu4261=) c.12767A= (p.Glu4256=) c.12764A= (p.Glu4255=) c.6151A= c.12749A= (p.Glu4250=) c.12779A= (p.Glu4260=) | |
19 | g.38565116A>C | CA405671142 | RYR1 | c.1192A>C c.1174A>C c.12782A>C (p.Glu4261Ala) c.12767A>C (p.Glu4256Ala) c.12764A>C (p.Glu4255Ala) c.6151A>C c.12749A>C (p.Glu4250Ala) c.12779A>C (p.Glu4260Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565116A>G | CA405671143 | RYR1 | c.1192A>G c.1174A>G c.12782A>G (p.Glu4261Gly) c.12767A>G (p.Glu4256Gly) c.12764A>G (p.Glu4255Gly) c.6151A>G c.12749A>G (p.Glu4250Gly) c.12779A>G (p.Glu4260Gly) | |
19 | g.38565116A>T | CA405671144 | RYR1 | c.1192A>T c.1174A>T c.12782A>T (p.Glu4261Val) c.12767A>T (p.Glu4256Val) c.12764A>T (p.Glu4255Val) c.6151A>T c.12749A>T (p.Glu4250Val) c.12779A>T (p.Glu4260Val) | |
19 | g.38565117G>A | CA507355600 | RYR1 | c.1193G>A c.1175G>A c.12783G>A (p.Glu4261=) c.12768G>A (p.Glu4256=) c.12765G>A (p.Glu4255=) c.6152G>A c.12750G>A (p.Glu4250=) c.12780G>A (p.Glu4260=) | ClinVar |
19 | g.38565117G>C | CA405671145 | RYR1 | c.1193G>C c.1175G>C c.12783G>C (p.Glu4261Asp) c.12768G>C (p.Glu4256Asp) c.12765G>C (p.Glu4255Asp) c.6152G>C c.12750G>C (p.Glu4250Asp) c.12780G>C (p.Glu4260Asp) | ClinVar |
19 | g.38565117G>T | CA405671146 | RYR1 | c.1193G>T c.1175G>T c.12783G>T (p.Glu4261Asp) c.12768G>T (p.Glu4256Asp) c.12765G>T (p.Glu4255Asp) c.6152G>T c.12750G>T (p.Glu4250Asp) c.12780G>T (p.Glu4260Asp) | gnomAD v4 |
19 | g.38565118G>A | CA405671147 | RYR1 | c.1194G>A c.1176G>A c.12784G>A (p.Asp4262Asn) c.12769G>A (p.Asp4257Asn) c.12766G>A (p.Asp4256Asn) c.6153G>A c.12751G>A (p.Asp4251Asn) c.12781G>A (p.Asp4261Asn) | gnomAD v4 |
19 | g.38565118G>C | CA405671148 | RYR1 | c.1194G>C c.1176G>C c.12784G>C (p.Asp4262His) c.12769G>C (p.Asp4257His) c.12766G>C (p.Asp4256His) c.6153G>C c.12751G>C (p.Asp4251His) c.12781G>C (p.Asp4261His) | |
19 | g.38565118G>T | CA405671149 | RYR1 | c.1194G>T c.1176G>T c.12784G>T (p.Asp4262Tyr) c.12769G>T (p.Asp4257Tyr) c.12766G>T (p.Asp4256Tyr) c.6153G>T c.12751G>T (p.Asp4251Tyr) c.12781G>T (p.Asp4261Tyr) | gnomAD v4 |
19 | g.38565120_38565122del | CA2584909111 | RYR1 | c.1196_1198del c.1178_1180del c.12786_12788del (p.Asp4262del) c.12771_12773del (p.Asp4257del) c.12768_12770del (p.Asp4256del) c.6155_6157del c.12753_12755del (p.Asp4251del) c.12783_12785del (p.Asp4261del) | gnomAD v4 |
19 | g.38565119A= | CA2335084647 | RYR1 | c.1195A= c.1177A= c.12785A= (p.Asp4262=) c.12770A= (p.Asp4257=) c.12767A= (p.Asp4256=) c.6154A= c.12752A= (p.Asp4251=) c.12782A= (p.Asp4261=) | |
19 | g.38565119A>C | CA405671152 | RYR1 | c.1195A>C c.1177A>C c.12785A>C (p.Asp4262Ala) c.12770A>C (p.Asp4257Ala) c.12767A>C (p.Asp4256Ala) c.6154A>C c.12752A>C (p.Asp4251Ala) c.12782A>C (p.Asp4261Ala) | |
19 | g.38565119A>G | CA405671151 | RYR1 | c.1195A>G c.1177A>G c.12785A>G (p.Asp4262Gly) c.12770A>G (p.Asp4257Gly) c.12767A>G (p.Asp4256Gly) c.6154A>G c.12752A>G (p.Asp4251Gly) c.12782A>G (p.Asp4261Gly) | dbSNP COSMIC |
19 | g.38565119A>T | CA405671150 | RYR1 | c.1195A>T c.1177A>T c.12785A>T (p.Asp4262Val) c.12770A>T (p.Asp4257Val) c.12767A>T (p.Asp4256Val) c.6154A>T c.12752A>T (p.Asp4251Val) c.12782A>T (p.Asp4261Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565120C>A | CA405671153 | RYR1 | c.1196C>A c.1178C>A c.12786C>A (p.Asp4262Glu) c.12771C>A (p.Asp4257Glu) c.12768C>A (p.Asp4256Glu) c.6155C>A c.12753C>A (p.Asp4251Glu) c.12783C>A (p.Asp4261Glu) | gnomAD v4 |
19 | g.38565120C= | CA2335084648 | RYR1 | c.1196C= c.1178C= c.12786C= (p.Asp4262=) c.12771C= (p.Asp4257=) c.12768C= (p.Asp4256=) c.6155C= c.12753C= (p.Asp4251=) c.12783C= (p.Asp4261=) | |
19 | g.38565120C>G | CA405671154 | RYR1 | c.1196C>G c.1178C>G c.12786C>G (p.Asp4262Glu) c.12771C>G (p.Asp4257Glu) c.12768C>G (p.Asp4256Glu) c.6155C>G c.12753C>G (p.Asp4251Glu) c.12783C>G (p.Asp4261Glu) | gnomAD v4 |
19 | g.38565120C>T | CA308109161 | RYR1 | c.1196C>T c.1178C>T c.12786C>T (p.Asp4262=) c.12771C>T (p.Asp4257=) c.12768C>T (p.Asp4256=) c.6155C>T c.12753C>T (p.Asp4251=) c.12783C>T (p.Asp4261=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565122_38565127dup | CA507355606 | RYR1 | c.1198_1203dup c.1180_1185dup c.12788_12793dup (p.Gly4264_Ala4265insGluGly) c.12773_12778dup (p.Gly4259_Ala4260insGluGly) c.12770_12775dup (p.Gly4258_Ala4259insGluGly) c.6157_6162dup c.12755_12760dup (p.Gly4253_Ala4254insGluGly) c.12785_12790dup (p.Gly4263_Ala4264insGluGly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565122_38565127del | CA2580097178 | RYR1 | c.1198_1203del c.1180_1185del c.12788_12793del (p.Glu4263_Gly4264del) c.12773_12778del (p.Glu4258_Gly4259del) c.12770_12775del (p.Glu4257_Gly4258del) c.6157_6162del c.12755_12760del (p.Glu4252_Gly4253del) c.12785_12790del (p.Glu4262_Gly4263del) | ClinVar |
19 | g.38565121G>A | CA405671155 | RYR1 | c.1197G>A c.1179G>A c.12787G>A (p.Glu4263Lys) c.12772G>A (p.Glu4258Lys) c.12769G>A (p.Glu4257Lys) c.6156G>A c.12754G>A (p.Glu4252Lys) c.12784G>A (p.Glu4262Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565121G>C | CA405671156 | RYR1 | c.1197G>C c.1179G>C c.12787G>C (p.Glu4263Gln) c.12772G>C (p.Glu4258Gln) c.12769G>C (p.Glu4257Gln) c.6156G>C c.12754G>C (p.Glu4252Gln) c.12784G>C (p.Glu4262Gln) | gnomAD v4 |
19 | g.38565121G= | CA2335084649 | RYR1 | c.1197G= c.1179G= c.12787G= (p.Glu4263=) c.12772G= (p.Glu4258=) c.12769G= (p.Glu4257=) c.6156G= c.12754G= (p.Glu4252=) c.12784G= (p.Glu4262=) | |
19 | g.38565121G>T | CA405671157 | RYR1 | c.1197G>T c.1179G>T c.12787G>T (p.Glu4263Ter) c.12772G>T (p.Glu4258Ter) c.12769G>T (p.Glu4257Ter) c.6156G>T c.12754G>T (p.Glu4252Ter) c.12784G>T (p.Glu4262Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565131_38565172del | CA2584909112 | RYR1 | c.1207_1248del c.1189_1230del c.12797_12838del (p.Gly4266_Ala4279del) c.12782_12823del (p.Gly4261_Ala4274del) c.12779_12820del (p.Gly4260_Ala4273del) c.6166_6207del c.12764_12805del (p.Gly4255_Ala4268del) c.12794_12835del (p.Gly4265_Ala4278del) | gnomAD v4 |
19 | g.38565122A= | CA2335084652 | RYR1 | c.1198A= c.1180A= c.12788A= (p.Glu4263=) c.12773A= (p.Glu4258=) c.12770A= (p.Glu4257=) c.6157A= c.12755A= (p.Glu4252=) c.12785A= (p.Glu4262=) | |
19 | g.38565122A>C | CA405671158 | RYR1 | c.1198A>C c.1180A>C c.12788A>C (p.Glu4263Ala) c.12773A>C (p.Glu4258Ala) c.12770A>C (p.Glu4257Ala) c.6157A>C c.12755A>C (p.Glu4252Ala) c.12785A>C (p.Glu4262Ala) | COSMIC |
19 | g.38565122A>G | CA405671159 | RYR1 | c.1198A>G c.1180A>G c.12788A>G (p.Glu4263Gly) c.12773A>G (p.Glu4258Gly) c.12770A>G (p.Glu4257Gly) c.6157A>G c.12755A>G (p.Glu4252Gly) c.12785A>G (p.Glu4262Gly) | |
19 | g.38565122A>T | CA405671160 | RYR1 | c.1198A>T c.1180A>T c.12788A>T (p.Glu4263Val) c.12773A>T (p.Glu4258Val) c.12770A>T (p.Glu4257Val) c.6157A>T c.12755A>T (p.Glu4252Val) c.12785A>T (p.Glu4262Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565122_38565128delinsAGGGCGC | CA2335084650 | RYR1 | c.1198_1204delinsAGGGCGC c.1180_1186delinsAGGGCGC c.12788_12794delinsAGGGCGC (p.Glu4263=) c.12773_12779delinsAGGGCGC (p.Glu4258=) c.12770_12776delinsAGGGCGC (p.Glu4257=) c.6157_6163delinsAGGGCGC c.12755_12761delinsAGGGCGC (p.Glu4252=) c.12785_12791delinsAGGGCGC (p.Glu4262=) | |
19 | g.38565122_38565143delinsAGGGCGCGGGCGCGGCGGAGGC | CA2335084651 | RYR1 | c.1198_1219delinsAGGGCGCGGGCGCGGCGGAGGC c.1180_1201delinsAGGGCGCGGGCGCGGCGGAGGC c.12788_12809delinsAGGGCGCGGGCGCGGCGGAGGC (p.Glu4263=) c.12773_12794delinsAGGGCGCGGGCGCGGCGGAGGC (p.Glu4258=) c.12770_12791delinsAGGGCGCGGGCGCGGCGGAGGC (p.Glu4257=) c.6157_6178delinsAGGGCGCGGGCGCGGCGGAGGC c.12755_12776delinsAGGGCGCGGGCGCGGCGGAGGC (p.Glu4252=) c.12785_12806delinsAGGGCGCGGGCGCGGCGGAGGC (p.Glu4262=) | |
19 | g.38565123G>A | CA507355613 | RYR1 | c.1199G>A c.1181G>A c.12789G>A (p.Glu4263=) c.12774G>A (p.Glu4258=) c.12771G>A (p.Glu4257=) c.6158G>A c.12756G>A (p.Glu4252=) c.12786G>A (p.Glu4262=) | |
19 | g.38565123G>C | CA405671161 | RYR1 | c.1199G>C c.1181G>C c.12789G>C (p.Glu4263Asp) c.12774G>C (p.Glu4258Asp) c.12771G>C (p.Glu4257Asp) c.6158G>C c.12756G>C (p.Glu4252Asp) c.12786G>C (p.Glu4262Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565123G= | CA2335084653 | RYR1 | c.1199G= c.1181G= c.12789G= (p.Glu4263=) c.12774G= (p.Glu4258=) c.12771G= (p.Glu4257=) c.6158G= c.12756G= (p.Glu4252=) c.12786G= (p.Glu4262=) | |
19 | g.38565123G>T | CA405671162 | RYR1 | c.1199G>T c.1181G>T c.12789G>T (p.Glu4263Asp) c.12774G>T (p.Glu4258Asp) c.12771G>T (p.Glu4257Asp) c.6158G>T c.12756G>T (p.Glu4252Asp) c.12786G>T (p.Glu4262Asp) | gnomAD v4 |
19 | g.38565131_38565136dup | CA059435 | RYR1 | c.1207_1212dup c.1189_1194dup c.12797_12802dup (p.Ala4267_Ala4268insGlyAla) c.12782_12787dup (p.Ala4262_Ala4263insGlyAla) c.12779_12784dup (p.Ala4261_Ala4262insGlyAla) c.6166_6171dup c.12764_12769dup (p.Ala4256_Ala4257insGlyAla) c.12794_12799dup (p.Ala4266_Ala4267insGlyAla) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565131_38565136del | CA633066813 | RYR1 | c.1207_1212del c.1189_1194del c.12797_12802del (p.Gly4266_Ala4267del) c.12782_12787del (p.Gly4261_Ala4262del) c.12779_12784del (p.Gly4260_Ala4261del) c.6166_6171del c.12764_12769del (p.Gly4255_Ala4256del) c.12794_12799del (p.Gly4265_Ala4266del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565131_38565151del | CA308109162 | RYR1 | c.1207_1227del c.1189_1209del c.12797_12817del (p.Gly4266_Ala4272del) c.12782_12802del (p.Gly4261_Ala4267del) c.12779_12799del (p.Gly4260_Ala4266del) c.6166_6186del c.12764_12784del (p.Gly4255_Ala4261del) c.12794_12814del (p.Gly4265_Ala4271del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565124G>A | CA405671165 | RYR1 | c.1200G>A c.1182G>A c.12790G>A (p.Gly4264Ser) c.12775G>A (p.Gly4259Ser) c.12772G>A (p.Gly4258Ser) c.6159G>A c.12757G>A (p.Gly4253Ser) c.12787G>A (p.Gly4263Ser) | gnomAD v4 |
19 | g.38565124G>C | CA405671163 | RYR1 | c.1200G>C c.1182G>C c.12790G>C (p.Gly4264Arg) c.12775G>C (p.Gly4259Arg) c.12772G>C (p.Gly4258Arg) c.6159G>C c.12757G>C (p.Gly4253Arg) c.12787G>C (p.Gly4263Arg) | |
19 | g.38565124G>T | CA405671164 | RYR1 | c.1200G>T c.1182G>T c.12790G>T (p.Gly4264Cys) c.12775G>T (p.Gly4259Cys) c.12772G>T (p.Gly4258Cys) c.6159G>T c.12757G>T (p.Gly4253Cys) c.12787G>T (p.Gly4263Cys) | gnomAD v4 |
19 | g.38565131_38565160dup | CA633066814 | RYR1 | c.1207_1236dup c.1189_1218dup c.12797_12826dup (p.Ala4275_Glu4276insGlyAlaAlaGluAlaGlyAlaGluGlyAla) c.12782_12811dup (p.Ala4270_Glu4271insGlyAlaAlaGluAlaGlyAlaGluGlyAla) c.12779_12808dup (p.Ala4269_Glu4270insGlyAlaAlaGluAlaGlyAlaGluGlyAla) c.6166_6195dup c.12764_12793dup (p.Ala4264_Glu4265insGlyAlaAlaGluAlaGlyAlaGluGlyAla) c.12794_12823dup (p.Ala4274_Glu4275insGlyAlaAlaGluAlaGlyAlaGluGlyAla) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565125G>A | CA405671166 | RYR1 | c.1201G>A c.1183G>A c.12791G>A (p.Gly4264Asp) c.12776G>A (p.Gly4259Asp) c.12773G>A (p.Gly4258Asp) c.6160G>A c.12758G>A (p.Gly4253Asp) c.12788G>A (p.Gly4263Asp) | ClinVar dbSNP gnomAD v4 |
19 | g.38565125G>C | CA405671167 | RYR1 | c.1201G>C c.1183G>C c.12791G>C (p.Gly4264Ala) c.12776G>C (p.Gly4259Ala) c.12773G>C (p.Gly4258Ala) c.6160G>C c.12758G>C (p.Gly4253Ala) c.12788G>C (p.Gly4263Ala) | |
19 | g.38565125G= | CA2335084654 | RYR1 | c.1201G= c.1183G= c.12791G= (p.Gly4264=) c.12776G= (p.Gly4259=) c.12773G= (p.Gly4258=) c.6160G= c.12758G= (p.Gly4253=) c.12788G= (p.Gly4263=) | |
19 | g.38565125G>T | CA308109167 | RYR1 | c.1201G>T c.1183G>T c.12791G>T (p.Gly4264Val) c.12776G>T (p.Gly4259Val) c.12773G>T (p.Gly4258Val) c.6160G>T c.12758G>T (p.Gly4253Val) c.12788G>T (p.Gly4263Val) | dbSNP gnomAD v4 |
19 | g.38565125_38565126insGGGCGC | CA080763 | RYR1 | c.1201_1202insGGGCGC c.1183_1184insGGGCGC c.12791_12792insGGGCGC (p.Gly4264_Ala4265insGlyAla) c.12776_12777insGGGCGC (p.Gly4259_Ala4260insGlyAla) c.12773_12774insGGGCGC (p.Gly4258_Ala4259insGlyAla) c.6160_6161insGGGCGC c.12758_12759insGGGCGC (p.Gly4253_Ala4254insGlyAla) c.12788_12789insGGGCGC (p.Gly4263_Ala4264insGlyAla) | |
19 | g.38565126C>A | CA507355617 | RYR1 | c.1202C>A c.1184C>A c.12792C>A (p.Gly4264=) c.12777C>A (p.Gly4259=) c.12774C>A (p.Gly4258=) c.6161C>A c.12759C>A (p.Gly4253=) c.12789C>A (p.Gly4263=) | gnomAD v4 |
19 | g.38565126C>G | CA507355619 | RYR1 | c.1202C>G c.1184C>G c.12792C>G (p.Gly4264=) c.12777C>G (p.Gly4259=) c.12774C>G (p.Gly4258=) c.6161C>G c.12759C>G (p.Gly4253=) c.12789C>G (p.Gly4263=) | |
19 | g.38565126C>T | CA507355618 | RYR1 | c.1202C>T c.1184C>T c.12792C>T (p.Gly4264=) c.12777C>T (p.Gly4259=) c.12774C>T (p.Gly4258=) c.6161C>T c.12759C>T (p.Gly4253=) c.12789C>T (p.Gly4263=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565126_38565129delinsCGCG | CA2335084656 | RYR1 | c.1202_1205delinsCGCG c.1184_1187delinsCGCG c.12792_12795delinsCGCG (p.Gly4264=) c.12777_12780delinsCGCG (p.Gly4259=) c.12774_12777delinsCGCG (p.Gly4258=) c.6161_6164delinsCGCG c.12759_12762delinsCGCG (p.Gly4253=) c.12789_12792delinsCGCG (p.Gly4263=) | |
19 | g.38565126_38565141delinsCGCGGGCGCGGCGGAG | CA2335084655 | RYR1 | c.1202_1217delinsCGCGGGCGCGGCGGAG c.1184_1199delinsCGCGGGCGCGGCGGAG c.12792_12807delinsCGCGGGCGCGGCGGAG (p.Gly4264=) c.12777_12792delinsCGCGGGCGCGGCGGAG (p.Gly4259=) c.12774_12789delinsCGCGGGCGCGGCGGAG (p.Gly4258=) c.6161_6176delinsCGCGGGCGCGGCGGAG c.12759_12774delinsCGCGGGCGCGGCGGAG (p.Gly4253=) c.12789_12804delinsCGCGGGCGCGGCGGAG (p.Gly4263=) | |
19 | g.38565127G>A | CA405671168 | RYR1 | c.1203G>A c.1185G>A c.12793G>A (p.Ala4265Thr) c.12778G>A (p.Ala4260Thr) c.12775G>A (p.Ala4259Thr) c.6162G>A c.12760G>A (p.Ala4254Thr) c.12790G>A (p.Ala4264Thr) | gnomAD v4 |
19 | g.38565127G>C | CA405671169 | RYR1 | c.1203G>C c.1185G>C c.12793G>C (p.Ala4265Pro) c.12778G>C (p.Ala4260Pro) c.12775G>C (p.Ala4259Pro) c.6162G>C c.12760G>C (p.Ala4254Pro) c.12790G>C (p.Ala4264Pro) | |
19 | g.38565127G>T | CA405671170 | RYR1 | c.1203G>T c.1185G>T c.12793G>T (p.Ala4265Ser) c.12778G>T (p.Ala4260Ser) c.12775G>T (p.Ala4259Ser) c.6162G>T c.12760G>T (p.Ala4254Ser) c.12790G>T (p.Ala4264Ser) | gnomAD v4 |
19 | g.38565128_38565130del | CA405671171 | RYR1 | c.1204_1206del c.1186_1188del c.12794_12796del (p.Ala4265del) c.12779_12781del (p.Ala4260del) c.12776_12778del (p.Ala4259del) c.6163_6165del c.12761_12763del (p.Ala4254del) c.12791_12793del (p.Ala4264del) | dbSNP |
19 | g.38565131_38565139del | CA2584909113 | RYR1 | c.1207_1215del c.1189_1197del c.12797_12805del (p.Gly4266_Ala4268del) c.12782_12790del (p.Gly4261_Ala4263del) c.12779_12787del (p.Gly4260_Ala4262del) c.6166_6174del c.12764_12772del (p.Gly4255_Ala4257del) c.12794_12802del (p.Gly4265_Ala4267del) | gnomAD v4 |
19 | g.38565137_38565151dup | CA308109171 | RYR1 | c.1213_1227dup c.1195_1209dup c.12803_12817dup (p.Ala4272_Glu4273insAlaGluAlaGlyAla) c.12788_12802dup (p.Ala4267_Glu4268insAlaGluAlaGlyAla) c.12785_12799dup (p.Ala4266_Glu4267insAlaGluAlaGlyAla) c.6172_6186dup c.12770_12784dup (p.Ala4261_Glu4262insAlaGluAlaGlyAla) c.12800_12814dup (p.Ala4271_Glu4272insAlaGluAlaGlyAla) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565137_38565151del | CA308109175 | RYR1 | c.1213_1227del c.1195_1209del c.12803_12817del (p.Ala4268_Ala4272del) c.12788_12802del (p.Ala4263_Ala4267del) c.12785_12799del (p.Ala4262_Ala4266del) c.6172_6186del c.12770_12784del (p.Ala4257_Ala4261del) c.12800_12814del (p.Ala4267_Ala4271del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565128C>A | CA405671172 | RYR1 | c.1204C>A c.1186C>A c.12794C>A (p.Ala4265Glu) c.12779C>A (p.Ala4260Glu) c.12776C>A (p.Ala4259Glu) c.6163C>A c.12761C>A (p.Ala4254Glu) c.12791C>A (p.Ala4264Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565128C= | CA2335084657 | RYR1 | c.1204C= c.1186C= c.12794C= (p.Ala4265=) c.12779C= (p.Ala4260=) c.12776C= (p.Ala4259=) c.6163C= c.12761C= (p.Ala4254=) c.12791C= (p.Ala4264=) | |
19 | g.38565128C>G | CA405671173 | RYR1 | c.1204C>G c.1186C>G c.12794C>G (p.Ala4265Gly) c.12779C>G (p.Ala4260Gly) c.12776C>G (p.Ala4259Gly) c.6163C>G c.12761C>G (p.Ala4254Gly) c.12791C>G (p.Ala4264Gly) | |
19 | g.38565128C>T | CA405671174 | RYR1 | c.1204C>T c.1186C>T c.12794C>T (p.Ala4265Val) c.12779C>T (p.Ala4260Val) c.12776C>T (p.Ala4259Val) c.6163C>T c.12761C>T (p.Ala4254Val) c.12791C>T (p.Ala4264Val) | gnomAD v4 |
19 | g.38565129G>A | CA507355622 | RYR1 | c.1205G>A c.1187G>A c.12795G>A (p.Ala4265=) c.12780G>A (p.Ala4260=) c.12777G>A (p.Ala4259=) c.6164G>A c.12762G>A (p.Ala4254=) c.12792G>A (p.Ala4264=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565129G>C | CA507355623 | RYR1 | c.1205G>C c.1187G>C c.12795G>C (p.Ala4265=) c.12780G>C (p.Ala4260=) c.12777G>C (p.Ala4259=) c.6164G>C c.12762G>C (p.Ala4254=) c.12792G>C (p.Ala4264=) | gnomAD v4 |
19 | g.38565129G= | CA2335084658 | RYR1 | c.1205G= c.1187G= c.12795G= (p.Ala4265=) c.12780G= (p.Ala4260=) c.12777G= (p.Ala4259=) c.6164G= c.12762G= (p.Ala4254=) c.12792G= (p.Ala4264=) | |
19 | g.38565129G>T | CA507355624 | RYR1 | c.1205G>T c.1187G>T c.12795G>T (p.Ala4265=) c.12780G>T (p.Ala4260=) c.12777G>T (p.Ala4259=) c.6164G>T c.12762G>T (p.Ala4254=) c.12792G>T (p.Ala4264=) | gnomAD v4 |
19 | g.38565130G>A | CA405671177 | RYR1 | c.1206G>A c.1188G>A c.12796G>A (p.Gly4266Ser) c.12781G>A (p.Gly4261Ser) c.12778G>A (p.Gly4260Ser) c.6165G>A c.12763G>A (p.Gly4255Ser) c.12793G>A (p.Gly4265Ser) | gnomAD v4 |
19 | g.38565130G>C | CA405671176 | RYR1 | c.1206G>C c.1188G>C c.12796G>C (p.Gly4266Arg) c.12781G>C (p.Gly4261Arg) c.12778G>C (p.Gly4260Arg) c.6165G>C c.12763G>C (p.Gly4255Arg) c.12793G>C (p.Gly4265Arg) | |
19 | g.38565130G>T | CA405671175 | RYR1 | c.1206G>T c.1188G>T c.12796G>T (p.Gly4266Cys) c.12781G>T (p.Gly4261Cys) c.12778G>T (p.Gly4260Cys) c.6165G>T c.12763G>T (p.Gly4255Cys) c.12793G>T (p.Gly4265Cys) | gnomAD v4 |
19 | g.38565137_38565160del | CA2584909114 | RYR1 | c.1213_1236del c.1195_1218del c.12803_12826del (p.Ala4268_Ala4275del) c.12788_12811del (p.Ala4263_Ala4270del) c.12785_12808del (p.Ala4262_Ala4269del) c.6172_6195del c.12770_12793del (p.Ala4257_Ala4264del) c.12800_12823del (p.Ala4267_Ala4274del) | gnomAD v4 |
19 | g.38565131G>A | CA405671178 | RYR1 | c.1207G>A c.1189G>A c.12797G>A (p.Gly4266Asp) c.12782G>A (p.Gly4261Asp) c.12779G>A (p.Gly4260Asp) c.6166G>A c.12764G>A (p.Gly4255Asp) c.12794G>A (p.Gly4265Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565131G>C | CA405671181 | RYR1 | c.1207G>C c.1189G>C c.12797G>C (p.Gly4266Ala) c.12782G>C (p.Gly4261Ala) c.12779G>C (p.Gly4260Ala) c.6166G>C c.12764G>C (p.Gly4255Ala) c.12794G>C (p.Gly4265Ala) | gnomAD v4 |
19 | g.38565131G= | CA2335084659 | RYR1 | c.1207G= c.1189G= c.12797G= (p.Gly4266=) c.12782G= (p.Gly4261=) c.12779G= (p.Gly4260=) c.6166G= c.12764G= (p.Gly4255=) c.12794G= (p.Gly4265=) | |
19 | g.38565131G>T | CA405671179 | RYR1 | c.1207G>T c.1189G>T c.12797G>T (p.Gly4266Val) c.12782G>T (p.Gly4261Val) c.12779G>T (p.Gly4260Val) c.6166G>T c.12764G>T (p.Gly4255Val) c.12794G>T (p.Gly4265Val) | gnomAD v4 |
19 | g.38565134_38565135dup | CA1139532380 | RYR1 | c.1210_1211dup c.1192_1193dup c.12800_12801dup (p.Ala4268ArgfsTer?) c.12785_12786dup (p.Ala4263ArgfsTer?) c.12782_12783dup (p.Ala4262ArgfsTer?) c.6169_6170dup c.12767_12768dup (p.Ala4257ArgfsTer?) c.12797_12798dup (p.Ala4267ArgfsTer?) | |
19 | g.38565132C>A | CA507355627 | RYR1 | c.1208C>A c.1190C>A c.12798C>A (p.Gly4266=) c.12783C>A (p.Gly4261=) c.12780C>A (p.Gly4260=) c.6167C>A c.12765C>A (p.Gly4255=) c.12795C>A (p.Gly4265=) | gnomAD v4 |
19 | g.38565132C= | CA2335084660 | RYR1 | c.1208C= c.1190C= c.12798C= (p.Gly4266=) c.12783C= (p.Gly4261=) c.12780C= (p.Gly4260=) c.6167C= c.12765C= (p.Gly4255=) c.12795C= (p.Gly4265=) | |
19 | g.38565132C>G | CA507355626 | RYR1 | c.1208C>G c.1190C>G c.12798C>G (p.Gly4266=) c.12783C>G (p.Gly4261=) c.12780C>G (p.Gly4260=) c.6167C>G c.12765C>G (p.Gly4255=) c.12795C>G (p.Gly4265=) | |
19 | g.38565132C>T | CA507355625 | RYR1 | c.1208C>T c.1190C>T c.12798C>T (p.Gly4266=) c.12783C>T (p.Gly4261=) c.12780C>T (p.Gly4260=) c.6167C>T c.12765C>T (p.Gly4255=) c.12795C>T (p.Gly4265=) | dbSNP gnomAD v4 |
19 | g.38565133G>A | CA405671182 | RYR1 | c.1209G>A c.1191G>A c.12799G>A (p.Ala4267Thr) c.12784G>A (p.Ala4262Thr) c.12781G>A (p.Ala4261Thr) c.6168G>A c.12766G>A (p.Ala4256Thr) c.12796G>A (p.Ala4266Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565133G>C | CA405671184 | RYR1 | c.1209G>C c.1191G>C c.12799G>C (p.Ala4267Pro) c.12784G>C (p.Ala4262Pro) c.12781G>C (p.Ala4261Pro) c.6168G>C c.12766G>C (p.Ala4256Pro) c.12796G>C (p.Ala4266Pro) | |
19 | g.38565133G= | CA2335084661 | RYR1 | c.1209G= c.1191G= c.12799G= (p.Ala4267=) c.12784G= (p.Ala4262=) c.12781G= (p.Ala4261=) c.6168G= c.12766G= (p.Ala4256=) c.12796G= (p.Ala4266=) | |
19 | g.38565133G>T | CA405671186 | RYR1 | c.1209G>T c.1191G>T c.12799G>T (p.Ala4267Ser) c.12784G>T (p.Ala4262Ser) c.12781G>T (p.Ala4261Ser) c.6168G>T c.12766G>T (p.Ala4256Ser) c.12796G>T (p.Ala4266Ser) | gnomAD v4 |
19 | g.38565134C>A | CA308109176 | RYR1 | c.1210C>A c.1192C>A c.12800C>A (p.Ala4267Glu) c.12785C>A (p.Ala4262Glu) c.12782C>A (p.Ala4261Glu) c.6169C>A c.12767C>A (p.Ala4256Glu) c.12797C>A (p.Ala4266Glu) | dbSNP gnomAD v4 |
19 | g.38565134C= | CA2335084662 | RYR1 | c.1210C= c.1192C= c.12800C= (p.Ala4267=) c.12785C= (p.Ala4262=) c.12782C= (p.Ala4261=) c.6169C= c.12767C= (p.Ala4256=) c.12797C= (p.Ala4266=) | |
19 | g.38565134C>G | CA059436 | RYR1 | c.1210C>G c.1192C>G c.12800C>G (p.Ala4267Gly) c.12785C>G (p.Ala4262Gly) c.12782C>G (p.Ala4261Gly) c.6169C>G c.12767C>G (p.Ala4256Gly) c.12797C>G (p.Ala4266Gly) | dbSNP ExAC gnomAD v4 |
19 | g.38565134C>T | CA405671188 | RYR1 | c.1210C>T c.1192C>T c.12800C>T (p.Ala4267Val) c.12785C>T (p.Ala4262Val) c.12782C>T (p.Ala4261Val) c.6169C>T c.12767C>T (p.Ala4256Val) c.12797C>T (p.Ala4266Val) | gnomAD v4 |
19 | g.38565135G>A | CA507355632 | RYR1 | c.1211G>A c.1193G>A c.12801G>A (p.Ala4267=) c.12786G>A (p.Ala4262=) c.12783G>A (p.Ala4261=) c.6170G>A c.12768G>A (p.Ala4256=) c.12798G>A (p.Ala4266=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565135G>C | CA507355634 | RYR1 | c.1211G>C c.1193G>C c.12801G>C (p.Ala4267=) c.12786G>C (p.Ala4262=) c.12783G>C (p.Ala4261=) c.6170G>C c.12768G>C (p.Ala4256=) c.12798G>C (p.Ala4266=) | |
19 | g.38565135G= | CA2335084664 | RYR1 | c.1211G= c.1193G= c.12801G= (p.Ala4267=) c.12786G= (p.Ala4262=) c.12783G= (p.Ala4261=) c.6170G= c.12768G= (p.Ala4256=) c.12798G= (p.Ala4266=) | |
19 | g.38565135G>T | CA507355636 | RYR1 | c.1211G>T c.1193G>T c.12801G>T (p.Ala4267=) c.12786G>T (p.Ala4262=) c.12783G>T (p.Ala4261=) c.6170G>T c.12768G>T (p.Ala4256=) c.12798G>T (p.Ala4266=) | gnomAD v4 |
19 | g.38565135_38565156delinsGGCGGAGGCGGGCGCGGAAGGC | CA2335084663 | RYR1 | c.1211_1232delinsGGCGGAGGCGGGCGCGGAAGGC c.1193_1214delinsGGCGGAGGCGGGCGCGGAAGGC c.12801_12822delinsGGCGGAGGCGGGCGCGGAAGGC (p.Ala4267=) c.12786_12807delinsGGCGGAGGCGGGCGCGGAAGGC (p.Ala4262=) c.12783_12804delinsGGCGGAGGCGGGCGCGGAAGGC (p.Ala4261=) c.6170_6191delinsGGCGGAGGCGGGCGCGGAAGGC c.12768_12789delinsGGCGGAGGCGGGCGCGGAAGGC (p.Ala4256=) c.12798_12819delinsGGCGGAGGCGGGCGCGGAAGGC (p.Ala4266=) | |
19 | g.38565136G>A | CA10642758 | RYR1 | c.1212G>A c.1194G>A c.12802G>A (p.Ala4268Thr) c.12787G>A (p.Ala4263Thr) c.12784G>A (p.Ala4262Thr) c.6171G>A c.12769G>A (p.Ala4257Thr) c.12799G>A (p.Ala4267Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565136G>C | CA405671191 | RYR1 | c.1212G>C c.1194G>C c.12802G>C (p.Ala4268Pro) c.12787G>C (p.Ala4263Pro) c.12784G>C (p.Ala4262Pro) c.6171G>C c.12769G>C (p.Ala4257Pro) c.12799G>C (p.Ala4267Pro) | |
19 | g.38565136G= | CA2335084665 | RYR1 | c.1212G= c.1194G= c.12802G= (p.Ala4268=) c.12787G= (p.Ala4263=) c.12784G= (p.Ala4262=) c.6171G= c.12769G= (p.Ala4257=) c.12799G= (p.Ala4267=) | |
19 | g.38565136G>T | CA405671193 | RYR1 | c.1212G>T c.1194G>T c.12802G>T (p.Ala4268Ser) c.12787G>T (p.Ala4263Ser) c.12784G>T (p.Ala4262Ser) c.6171G>T c.12769G>T (p.Ala4257Ser) c.12799G>T (p.Ala4267Ser) | |
19 | g.38565163_38565164insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG | CA2584909115 | RYR1 | c.1239_1240insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG c.1221_1222insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG c.12829_12830insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4276_Glu4277insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) c.12814_12815insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4271_Glu4272insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) c.12811_12812insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4270_Glu4271insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) c.6198_6199insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG c.12796_12797insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4265_Glu4266insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) c.12826_12827insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4275_Glu4276insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) | gnomAD v4 |
19 | g.38565143_38565163dup | CA633066816 | RYR1 | c.1219_1239dup c.1201_1221dup c.12809_12829dup (p.Glu4276_Glu4277insAlaGlyAlaGluGlyAlaGlu) c.12794_12814dup (p.Glu4271_Glu4272insAlaGlyAlaGluGlyAlaGlu) c.12791_12811dup (p.Glu4270_Glu4271insAlaGlyAlaGluGlyAlaGlu) c.6178_6198dup c.12776_12796dup (p.Glu4265_Glu4266insAlaGlyAlaGluGlyAlaGlu) c.12806_12826dup (p.Glu4275_Glu4276insAlaGlyAlaGluGlyAlaGlu) | dbSNP gnomAD v2 |
19 | g.38565143_38565163del | CA633066815 | RYR1 | c.1219_1239del c.1201_1221del c.12809_12829del (p.Ala4270_Glu4276del) c.12794_12814del (p.Ala4265_Glu4271del) c.12791_12811del (p.Ala4264_Glu4270del) c.6178_6198del c.12776_12796del (p.Ala4259_Glu4265del) c.12806_12826del (p.Ala4269_Glu4275del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565137C>A | CA405671196 | RYR1 | c.1213C>A c.1195C>A c.12803C>A (p.Ala4268Glu) c.12788C>A (p.Ala4263Glu) c.12785C>A (p.Ala4262Glu) c.6172C>A c.12770C>A (p.Ala4257Glu) c.12800C>A (p.Ala4267Glu) | gnomAD v4 |
19 | g.38565137C= | CA2335084666 | RYR1 | c.1213C= c.1195C= c.12803C= (p.Ala4268=) c.12788C= (p.Ala4263=) c.12785C= (p.Ala4262=) c.6172C= c.12770C= (p.Ala4257=) c.12800C= (p.Ala4267=) | |
19 | g.38565137C>G | CA059443 | RYR1 | c.1213C>G c.1195C>G c.12803C>G (p.Ala4268Gly) c.12788C>G (p.Ala4263Gly) c.12785C>G (p.Ala4262Gly) c.6172C>G c.12770C>G (p.Ala4257Gly) c.12800C>G (p.Ala4267Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565137C>T | CA405671194 | RYR1 | c.1213C>T c.1195C>T c.12803C>T (p.Ala4268Val) c.12788C>T (p.Ala4263Val) c.12785C>T (p.Ala4262Val) c.6172C>T c.12770C>T (p.Ala4257Val) c.12800C>T (p.Ala4267Val) | gnomAD v4 |
19 | g.38565137_38565161delinsCGGAGGCGGGCGCGGAAGGCGCGGA | CA2335084667 | RYR1 | c.1213_1237delinsCGGAGGCGGGCGCGGAAGGCGCGGA c.1195_1219delinsCGGAGGCGGGCGCGGAAGGCGCGGA c.12803_12827delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4268=) c.12788_12812delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4263=) c.12785_12809delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4262=) c.6172_6196delinsCGGAGGCGGGCGCGGAAGGCGCGGA c.12770_12794delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4257=) c.12800_12824delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4267=) | |
19 | g.38565138G>A | CA507355643 | RYR1 | c.1214G>A c.1196G>A c.12804G>A (p.Ala4268=) c.12789G>A (p.Ala4263=) c.12786G>A (p.Ala4262=) c.6173G>A c.12771G>A (p.Ala4257=) c.12801G>A (p.Ala4267=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565138G>C | CA507355641 | RYR1 | c.1214G>C c.1196G>C c.12804G>C (p.Ala4268=) c.12789G>C (p.Ala4263=) c.12786G>C (p.Ala4262=) c.6173G>C c.12771G>C (p.Ala4257=) c.12801G>C (p.Ala4267=) | |
19 | g.38565138G= | CA2335084668 | RYR1 | c.1214G= c.1196G= c.12804G= (p.Ala4268=) c.12789G= (p.Ala4263=) c.12786G= (p.Ala4262=) c.6173G= c.12771G= (p.Ala4257=) c.12801G= (p.Ala4267=) | |
19 | g.38565138G>T | CA507355642 | RYR1 | c.1214G>T c.1196G>T c.12804G>T (p.Ala4268=) c.12789G>T (p.Ala4263=) c.12786G>T (p.Ala4262=) c.6173G>T c.12771G>T (p.Ala4257=) c.12801G>T (p.Ala4267=) | |
19 | g.38565139_38565140insGGAGGCGCGGAGG | CA2576772092 | RYR1 | c.1215_1216insGGAGGCGCGGAGG c.1197_1198insGGAGGCGCGGAGG c.12805_12806insGGAGGCGCGGAGG (p.Glu4269GlyfsTer?) c.12790_12791insGGAGGCGCGGAGG (p.Glu4264GlyfsTer?) c.12787_12788insGGAGGCGCGGAGG (p.Glu4263GlyfsTer?) c.6174_6175insGGAGGCGCGGAGG c.12772_12773insGGAGGCGCGGAGG (p.Glu4258GlyfsTer?) c.12802_12803insGGAGGCGCGGAGG (p.Glu4268GlyfsTer?) | |
19 | g.38565139_38565151dup | CA2576772091 | RYR1 | c.1215_1227dup c.1197_1209dup c.12805_12817dup (p.Glu4273GlyfsTer?) c.12790_12802dup (p.Glu4268GlyfsTer?) c.12787_12799dup (p.Glu4267GlyfsTer?) c.6174_6186dup c.12772_12784dup (p.Glu4262GlyfsTer?) c.12802_12814dup (p.Glu4272GlyfsTer?) | |
19 | g.38565143_38565166del | CA882058415 | RYR1 | c.1219_1242del c.1201_1224del c.12809_12832del (p.Ala4270_Glu4277del) c.12794_12817del (p.Ala4265_Glu4272del) c.12791_12814del (p.Ala4264_Glu4271del) c.6178_6201del c.12776_12799del (p.Ala4259_Glu4266del) c.12806_12829del (p.Ala4269_Glu4276del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565139G>A | CA405671197 | RYR1 | c.1215G>A c.1197G>A c.12805G>A (p.Glu4269Lys) c.12790G>A (p.Glu4264Lys) c.12787G>A (p.Glu4263Lys) c.6174G>A c.12772G>A (p.Glu4258Lys) c.12802G>A (p.Glu4268Lys) | ClinVar dbSNP |
19 | g.38565139G>C | CA405671198 | RYR1 | c.1215G>C c.1197G>C c.12805G>C (p.Glu4269Gln) c.12790G>C (p.Glu4264Gln) c.12787G>C (p.Glu4263Gln) c.6174G>C c.12772G>C (p.Glu4258Gln) c.12802G>C (p.Glu4268Gln) | |
19 | g.38565139G= | CA2335084669 | RYR1 | c.1215G= c.1197G= c.12805G= (p.Glu4269=) c.12790G= (p.Glu4264=) c.12787G= (p.Glu4263=) c.6174G= c.12772G= (p.Glu4258=) c.12802G= (p.Glu4268=) | |
19 | g.38565139G>T | CA405671199 | RYR1 | c.1215G>T c.1197G>T c.12805G>T (p.Glu4269Ter) c.12790G>T (p.Glu4264Ter) c.12787G>T (p.Glu4263Ter) c.6174G>T c.12772G>T (p.Glu4258Ter) c.12802G>T (p.Glu4268Ter) | gnomAD v4 |
19 | g.38565140A= | CA2335084670 | RYR1 | c.1216A= c.1198A= c.12806A= (p.Glu4269=) c.12791A= (p.Glu4264=) c.12788A= (p.Glu4263=) c.6175A= c.12773A= (p.Glu4258=) c.12803A= (p.Glu4268=) | |
19 | g.38565140A>C | CA405671200 | RYR1 | c.1216A>C c.1198A>C c.12806A>C (p.Glu4269Ala) c.12791A>C (p.Glu4264Ala) c.12788A>C (p.Glu4263Ala) c.6175A>C c.12773A>C (p.Glu4258Ala) c.12803A>C (p.Glu4268Ala) | gnomAD v3 gnomAD v4 |
19 | g.38565140A>G | CA059446 | RYR1 | c.1216A>G c.1198A>G c.12806A>G (p.Glu4269Gly) c.12791A>G (p.Glu4264Gly) c.12788A>G (p.Glu4263Gly) c.6175A>G c.12773A>G (p.Glu4258Gly) c.12803A>G (p.Glu4268Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565140A>T | CA405671201 | RYR1 | c.1216A>T c.1198A>T c.12806A>T (p.Glu4269Val) c.12791A>T (p.Glu4264Val) c.12788A>T (p.Glu4263Val) c.6175A>T c.12773A>T (p.Glu4258Val) c.12803A>T (p.Glu4268Val) | gnomAD v4 |
19 | g.38565141G>A | CA507355645 | RYR1 | c.1217G>A c.1199G>A c.12807G>A (p.Glu4269=) c.12792G>A (p.Glu4264=) c.12789G>A (p.Glu4263=) c.6176G>A c.12774G>A (p.Glu4258=) c.12804G>A (p.Glu4268=) | |
19 | g.38565141G>C | CA405671202 | RYR1 | c.1217G>C c.1199G>C c.12807G>C (p.Glu4269Asp) c.12792G>C (p.Glu4264Asp) c.12789G>C (p.Glu4263Asp) c.6176G>C c.12774G>C (p.Glu4258Asp) c.12804G>C (p.Glu4268Asp) | |
19 | g.38565141G>T | CA405671203 | RYR1 | c.1217G>T c.1199G>T c.12807G>T (p.Glu4269Asp) c.12792G>T (p.Glu4264Asp) c.12789G>T (p.Glu4263Asp) c.6176G>T c.12774G>T (p.Glu4258Asp) c.12804G>T (p.Glu4268Asp) | gnomAD v4 |
19 | g.38565142G>A | CA405671204 | RYR1 | c.1218G>A c.1200G>A c.12808G>A (p.Ala4270Thr) c.12793G>A (p.Ala4265Thr) c.12790G>A (p.Ala4264Thr) c.6177G>A c.12775G>A (p.Ala4259Thr) c.12805G>A (p.Ala4269Thr) | ClinVar dbSNP gnomAD v4 |
19 | g.38565142G>C | CA405671205 | RYR1 | c.1218G>C c.1200G>C c.12808G>C (p.Ala4270Pro) c.12793G>C (p.Ala4265Pro) c.12790G>C (p.Ala4264Pro) c.6177G>C c.12775G>C (p.Ala4259Pro) c.12805G>C (p.Ala4269Pro) | |
19 | g.38565142G= | CA2335084671 | RYR1 | c.1218G= c.1200G= c.12808G= (p.Ala4270=) c.12793G= (p.Ala4265=) c.12790G= (p.Ala4264=) c.6177G= c.12775G= (p.Ala4259=) c.12805G= (p.Ala4269=) | |
19 | g.38565142G>T | CA405671207 | RYR1 | c.1218G>T c.1200G>T c.12808G>T (p.Ala4270Ser) c.12793G>T (p.Ala4265Ser) c.12790G>T (p.Ala4264Ser) c.6177G>T c.12775G>T (p.Ala4259Ser) c.12805G>T (p.Ala4269Ser) | |
19 | g.38565143C>A | CA405671216 | RYR1 | c.1219C>A c.1201C>A c.12809C>A (p.Ala4270Glu) c.12794C>A (p.Ala4265Glu) c.12791C>A (p.Ala4264Glu) c.6178C>A c.12776C>A (p.Ala4259Glu) c.12806C>A (p.Ala4269Glu) | dbSNP gnomAD v4 |
19 | g.38565143C= | CA2335084673 | RYR1 | c.1219C= c.1201C= c.12809C= (p.Ala4270=) c.12794C= (p.Ala4265=) c.12791C= (p.Ala4264=) c.6178C= c.12776C= (p.Ala4259=) c.12806C= (p.Ala4269=) | |
19 | g.38565143C>G | CA405671218 | RYR1 | c.1219C>G c.1201C>G c.12809C>G (p.Ala4270Gly) c.12794C>G (p.Ala4265Gly) c.12791C>G (p.Ala4264Gly) c.6178C>G c.12776C>G (p.Ala4259Gly) c.12806C>G (p.Ala4269Gly) | gnomAD v4 |
19 | g.38565143C>T | CA405671215 | RYR1 | c.1219C>T c.1201C>T c.12809C>T (p.Ala4270Val) c.12794C>T (p.Ala4265Val) c.12791C>T (p.Ala4264Val) c.6178C>T c.12776C>T (p.Ala4259Val) c.12806C>T (p.Ala4269Val) | gnomAD v4 |
19 | g.38565143_38565152delinsCGGGCGCGGA | CA2335084672 | RYR1 | c.1219_1228delinsCGGGCGCGGA c.1201_1210delinsCGGGCGCGGA c.12809_12818delinsCGGGCGCGGA (p.Ala4270=) c.12794_12803delinsCGGGCGCGGA (p.Ala4265=) c.12791_12800delinsCGGGCGCGGA (p.Ala4264=) c.6178_6187delinsCGGGCGCGGA c.12776_12785delinsCGGGCGCGGA (p.Ala4259=) c.12806_12815delinsCGGGCGCGGA (p.Ala4269=) | |
19 | g.38565143_38565164delinsCGGGCGCGGAAGGCGCGGAGGA | CA2335084674 | RYR1 | c.1219_1240delinsCGGGCGCGGAAGGCGCGGAGGA c.1201_1222delinsCGGGCGCGGAAGGCGCGGAGGA c.12809_12830delinsCGGGCGCGGAAGGCGCGGAGGA (p.Ala4270=) c.12794_12815delinsCGGGCGCGGAAGGCGCGGAGGA (p.Ala4265=) c.12791_12812delinsCGGGCGCGGAAGGCGCGGAGGA (p.Ala4264=) c.6178_6199delinsCGGGCGCGGAAGGCGCGGAGGA c.12776_12797delinsCGGGCGCGGAAGGCGCGGAGGA (p.Ala4259=) c.12806_12827delinsCGGGCGCGGAAGGCGCGGAGGA (p.Ala4269=) | |
19 | g.38565144G>A | CA507355648 | RYR1 | c.1220G>A c.1202G>A c.12810G>A (p.Ala4270=) c.12795G>A (p.Ala4265=) c.12792G>A (p.Ala4264=) c.6179G>A c.12777G>A (p.Ala4259=) c.12807G>A (p.Ala4269=) | gnomAD v4 |
19 | g.38565144G>C | CA308109190 | RYR1 | c.1220G>C c.1202G>C c.12810G>C (p.Ala4270=) c.12795G>C (p.Ala4265=) c.12792G>C (p.Ala4264=) c.6179G>C c.12777G>C (p.Ala4259=) c.12807G>C (p.Ala4269=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565144G= | CA2335084676 | RYR1 | c.1220G= c.1202G= c.12810G= (p.Ala4270=) c.12795G= (p.Ala4265=) c.12792G= (p.Ala4264=) c.6179G= c.12777G= (p.Ala4259=) c.12807G= (p.Ala4269=) | |
19 | g.38565144G>T | CA507355649 | RYR1 | c.1220G>T c.1202G>T c.12810G>T (p.Ala4270=) c.12795G>T (p.Ala4265=) c.12792G>T (p.Ala4264=) c.6179G>T c.12777G>T (p.Ala4259=) c.12807G>T (p.Ala4269=) | |
19 | g.38565146del | CA2584909117 | RYR1 | c.1222del c.1204del c.12812del (p.Gly4271AlafsTer?) c.12797del (p.Gly4266AlafsTer?) c.12794del (p.Gly4265AlafsTer?) c.6181del c.12779del (p.Gly4260AlafsTer?) c.12809del (p.Gly4270AlafsTer?) | gnomAD v4 |
19 | g.38565144_38565152del | CA059452 | RYR1 | c.1220_1228del c.1202_1210del c.12810_12818del (p.Gly4271_Glu4273del) c.12795_12803del (p.Gly4266_Glu4268del) c.12792_12800del (p.Gly4265_Glu4267del) c.6179_6187del c.12777_12785del (p.Gly4260_Glu4262del) c.12807_12815del (p.Gly4270_Glu4272del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38565144_38565153delinsGGGCGCGGAA | CA2335084675 | RYR1 | c.1220_1229delinsGGGCGCGGAA c.1202_1211delinsGGGCGCGGAA c.12810_12819delinsGGGCGCGGAA (p.Ala4270=) c.12795_12804delinsGGGCGCGGAA (p.Ala4265=) c.12792_12801delinsGGGCGCGGAA (p.Ala4264=) c.6179_6188delinsGGGCGCGGAA c.12777_12786delinsGGGCGCGGAA (p.Ala4259=) c.12807_12816delinsGGGCGCGGAA (p.Ala4269=) | |
19 | g.38565152_38565172dup | CA2584909116 | RYR1 | c.1228_1248dup c.1210_1230dup c.12818_12838dup (p.Ala4279_Ala4280insGluGlyAlaGluGluGlyAla) c.12803_12823dup (p.Ala4274_Ala4275insGluGlyAlaGluGluGlyAla) c.12800_12820dup (p.Ala4273_Ala4274insGluGlyAlaGluGluGlyAla) c.6187_6207dup c.12785_12805dup (p.Ala4268_Ala4269insGluGlyAlaGluGluGlyAla) c.12815_12835dup (p.Ala4278_Ala4279insGluGlyAlaGluGluGlyAla) | gnomAD v4 |
19 | g.38565152_38565172del | CA916082459 | RYR1 | c.1228_1248del c.1210_1230del c.12818_12838del (p.Glu4273_Ala4279del) c.12803_12823del (p.Glu4268_Ala4274del) c.12800_12820del (p.Glu4267_Ala4273del) c.6187_6207del c.12785_12805del (p.Glu4262_Ala4268del) c.12815_12835del (p.Glu4272_Ala4278del) | ClinVar dbSNP gnomAD v4 |
19 | g.38565145G>A | CA405671220 | RYR1 | c.1221G>A c.1203G>A c.12811G>A (p.Gly4271Ser) c.12796G>A (p.Gly4266Ser) c.12793G>A (p.Gly4265Ser) c.6180G>A c.12778G>A (p.Gly4260Ser) c.12808G>A (p.Gly4270Ser) | |
19 | g.38565145G>C | CA405671222 | RYR1 | c.1221G>C c.1203G>C c.12811G>C (p.Gly4271Arg) c.12796G>C (p.Gly4266Arg) c.12793G>C (p.Gly4265Arg) c.6180G>C c.12778G>C (p.Gly4260Arg) c.12808G>C (p.Gly4270Arg) | |
19 | g.38565145G>T | CA405671224 | RYR1 | c.1221G>T c.1203G>T c.12811G>T (p.Gly4271Cys) c.12796G>T (p.Gly4266Cys) c.12793G>T (p.Gly4265Cys) c.6180G>T c.12778G>T (p.Gly4260Cys) c.12808G>T (p.Gly4270Cys) | |
19 | g.38565153_38565161dup | CA2576772093 | RYR1 | c.1229_1237dup c.1211_1219dup c.12819_12827dup (p.Glu4276_Glu4277insGlyAlaGlu) c.12804_12812dup (p.Glu4271_Glu4272insGlyAlaGlu) c.12801_12809dup (p.Glu4270_Glu4271insGlyAlaGlu) c.6188_6196dup c.12786_12794dup (p.Glu4265_Glu4266insGlyAlaGlu) c.12816_12824dup (p.Glu4275_Glu4276insGlyAlaGlu) | gnomAD v4 |
19 | g.38565153_38565161del | CA080766 | RYR1 | c.1229_1237del c.1211_1219del c.12819_12827del (p.Gly4274_Glu4276del) c.12804_12812del (p.Gly4269_Glu4271del) c.12801_12809del (p.Gly4268_Glu4270del) c.6188_6196del c.12786_12794del (p.Gly4263_Glu4265del) c.12816_12824del (p.Gly4273_Glu4275del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565146G>A | CA059458 | RYR1 | c.1222G>A c.1204G>A c.12812G>A (p.Gly4271Asp) c.12797G>A (p.Gly4266Asp) c.12794G>A (p.Gly4265Asp) c.6181G>A c.12779G>A (p.Gly4260Asp) c.12809G>A (p.Gly4270Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565146G>C | CA405671226 | RYR1 | c.1222G>C c.1204G>C c.12812G>C (p.Gly4271Ala) c.12797G>C (p.Gly4266Ala) c.12794G>C (p.Gly4265Ala) c.6181G>C c.12779G>C (p.Gly4260Ala) c.12809G>C (p.Gly4270Ala) | |
19 | g.38565146G= | CA2335084677 | RYR1 | c.1222G= c.1204G= c.12812G= (p.Gly4271=) c.12797G= (p.Gly4266=) c.12794G= (p.Gly4265=) c.6181G= c.12779G= (p.Gly4260=) c.12809G= (p.Gly4270=) | |
19 | g.38565146G>T | CA405671227 | RYR1 | c.1222G>T c.1204G>T c.12812G>T (p.Gly4271Val) c.12797G>T (p.Gly4266Val) c.12794G>T (p.Gly4265Val) c.6181G>T c.12779G>T (p.Gly4260Val) c.12809G>T (p.Gly4270Val) | gnomAD v4 |
19 | g.38565147C>A | CA507355655 | RYR1 | c.1223C>A c.1205C>A c.12813C>A (p.Gly4271=) c.12798C>A (p.Gly4266=) c.12795C>A (p.Gly4265=) c.6182C>A c.12780C>A (p.Gly4260=) c.12810C>A (p.Gly4270=) | gnomAD v4 |
19 | g.38565147C= | CA2335084678 | RYR1 | c.1223C= c.1205C= c.12813C= (p.Gly4271=) c.12798C= (p.Gly4266=) c.12795C= (p.Gly4265=) c.6182C= c.12780C= (p.Gly4260=) c.12810C= (p.Gly4270=) | |
19 | g.38565147C>G | CA507355656 | RYR1 | c.1223C>G c.1205C>G c.12813C>G (p.Gly4271=) c.12798C>G (p.Gly4266=) c.12795C>G (p.Gly4265=) c.6182C>G c.12780C>G (p.Gly4260=) c.12810C>G (p.Gly4270=) | dbSNP |
19 | g.38565147C>T | CA059461 | RYR1 | c.1223C>T c.1205C>T c.12813C>T (p.Gly4271=) c.12798C>T (p.Gly4266=) c.12795C>T (p.Gly4265=) c.6182C>T c.12780C>T (p.Gly4260=) c.12810C>T (p.Gly4270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565148G>A | CA405671230 | RYR1 | c.1224G>A c.1206G>A c.12814G>A (p.Ala4272Thr) c.12799G>A (p.Ala4267Thr) c.12796G>A (p.Ala4266Thr) c.6183G>A c.12781G>A (p.Ala4261Thr) c.12811G>A (p.Ala4271Thr) | gnomAD v4 |
19 | g.38565148G>C | CA405671231 | RYR1 | c.1224G>C c.1206G>C c.12814G>C (p.Ala4272Pro) c.12799G>C (p.Ala4267Pro) c.12796G>C (p.Ala4266Pro) c.6183G>C c.12781G>C (p.Ala4261Pro) c.12811G>C (p.Ala4271Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565148G= | CA2335084679 | RYR1 | c.1224G= c.1206G= c.12814G= (p.Ala4272=) c.12799G= (p.Ala4267=) c.12796G= (p.Ala4266=) c.6183G= c.12781G= (p.Ala4261=) c.12811G= (p.Ala4271=) | |
19 | g.38565148G>T | CA405671233 | RYR1 | c.1224G>T c.1206G>T c.12814G>T (p.Ala4272Ser) c.12799G>T (p.Ala4267Ser) c.12796G>T (p.Ala4266Ser) c.6183G>T c.12781G>T (p.Ala4261Ser) c.12811G>T (p.Ala4271Ser) | dbSNP gnomAD v4 |
19 | g.38565149C>A | CA405671237 | RYR1 | c.1225C>A c.1207C>A c.12815C>A (p.Ala4272Glu) c.12800C>A (p.Ala4267Glu) c.12797C>A (p.Ala4266Glu) c.6184C>A c.12782C>A (p.Ala4261Glu) c.12812C>A (p.Ala4271Glu) | |
19 | g.38565149C>G | CA405671238 | RYR1 | c.1225C>G c.1207C>G c.12815C>G (p.Ala4272Gly) c.12800C>G (p.Ala4267Gly) c.12797C>G (p.Ala4266Gly) c.6184C>G c.12782C>G (p.Ala4261Gly) c.12812C>G (p.Ala4271Gly) | |
19 | g.38565149C>T | CA405671235 | RYR1 | c.1225C>T c.1207C>T c.12815C>T (p.Ala4272Val) c.12800C>T (p.Ala4267Val) c.12797C>T (p.Ala4266Val) c.6184C>T c.12782C>T (p.Ala4261Val) c.12812C>T (p.Ala4271Val) | gnomAD v4 |
19 | g.38565150G>A | CA507355661 | RYR1 | c.1226G>A c.1208G>A c.12816G>A (p.Ala4272=) c.12801G>A (p.Ala4267=) c.12798G>A (p.Ala4266=) c.6185G>A c.12783G>A (p.Ala4261=) c.12813G>A (p.Ala4271=) | gnomAD v4 |
19 | g.38565150G>C | CA507355662 | RYR1 | c.1226G>C c.1208G>C c.12816G>C (p.Ala4272=) c.12801G>C (p.Ala4267=) c.12798G>C (p.Ala4266=) c.6185G>C c.12783G>C (p.Ala4261=) c.12813G>C (p.Ala4271=) | ClinVar gnomAD v4 |
19 | g.38565150G>T | CA507355663 | RYR1 | c.1226G>T c.1208G>T c.12816G>T (p.Ala4272=) c.12801G>T (p.Ala4267=) c.12798G>T (p.Ala4266=) c.6185G>T c.12783G>T (p.Ala4261=) c.12813G>T (p.Ala4271=) | gnomAD v4 |
19 | g.38565150_38565156delinsGGAAGGC | CA2335084680 | RYR1 | c.1226_1232delinsGGAAGGC c.1208_1214delinsGGAAGGC c.12816_12822delinsGGAAGGC (p.Ala4272=) c.12801_12807delinsGGAAGGC (p.Ala4267=) c.12798_12804delinsGGAAGGC (p.Ala4266=) c.6185_6191delinsGGAAGGC c.12783_12789delinsGGAAGGC (p.Ala4261=) c.12813_12819delinsGGAAGGC (p.Ala4271=) | |
19 | g.38565153_38565164del | CA2584909118 | RYR1 | c.1229_1240del c.1211_1222del c.12819_12830del (p.Gly4274_Glu4277del) c.12804_12815del (p.Gly4269_Glu4272del) c.12801_12812del (p.Gly4268_Glu4271del) c.6188_6199del c.12786_12797del (p.Gly4263_Glu4266del) c.12816_12827del (p.Gly4273_Glu4276del) | ClinVar gnomAD v4 |
19 | g.38565151G>A | CA405671239 | RYR1 | c.1227G>A c.1209G>A c.12817G>A (p.Glu4273Lys) c.12802G>A (p.Glu4268Lys) c.12799G>A (p.Glu4267Lys) c.6186G>A c.12784G>A (p.Glu4262Lys) c.12814G>A (p.Glu4272Lys) | gnomAD v4 |
19 | g.38565151G>C | CA405671240 | RYR1 | c.1227G>C c.1209G>C c.12817G>C (p.Glu4273Gln) c.12802G>C (p.Glu4268Gln) c.12799G>C (p.Glu4267Gln) c.6186G>C c.12784G>C (p.Glu4262Gln) c.12814G>C (p.Glu4272Gln) | |
19 | g.38565151G>T | CA405671246 | RYR1 | c.1227G>T c.1209G>T c.12817G>T (p.Glu4273Ter) c.12802G>T (p.Glu4268Ter) c.12799G>T (p.Glu4267Ter) c.6186G>T c.12784G>T (p.Glu4262Ter) c.12814G>T (p.Glu4272Ter) | |
19 | g.38565152_38565157del | CA633066817 | RYR1 | c.1228_1233del c.1210_1215del c.12818_12823del (p.Glu4273_Gly4274del) c.12803_12808del (p.Glu4268_Gly4269del) c.12800_12805del (p.Glu4267_Gly4268del) c.6187_6192del c.12785_12790del (p.Glu4262_Gly4263del) c.12815_12820del (p.Glu4272_Gly4273del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565152A>C | CA405671247 | RYR1 | c.1228A>C c.1210A>C c.12818A>C (p.Glu4273Ala) c.12803A>C (p.Glu4268Ala) c.12800A>C (p.Glu4267Ala) c.6187A>C c.12785A>C (p.Glu4262Ala) c.12815A>C (p.Glu4272Ala) | gnomAD v4 |
19 | g.38565152A>G | CA405671249 | RYR1 | c.1228A>G c.1210A>G c.12818A>G (p.Glu4273Gly) c.12803A>G (p.Glu4268Gly) c.12800A>G (p.Glu4267Gly) c.6187A>G c.12785A>G (p.Glu4262Gly) c.12815A>G (p.Glu4272Gly) | |
19 | g.38565152A>T | CA405671251 | RYR1 | c.1228A>T c.1210A>T c.12818A>T (p.Glu4273Val) c.12803A>T (p.Glu4268Val) c.12800A>T (p.Glu4267Val) c.6187A>T c.12785A>T (p.Glu4262Val) c.12815A>T (p.Glu4272Val) | |
19 | g.38565153A= | CA2335084681 | RYR1 | c.1229A= c.1211A= c.12819A= (p.Glu4273=) c.12804A= (p.Glu4268=) c.12801A= (p.Glu4267=) c.6188A= c.12786A= (p.Glu4262=) c.12816A= (p.Glu4272=) | |
19 | g.38565153A>C | CA405671252 | RYR1 | c.1229A>C c.1211A>C c.12819A>C (p.Glu4273Asp) c.12804A>C (p.Glu4268Asp) c.12801A>C (p.Glu4267Asp) c.6188A>C c.12786A>C (p.Glu4262Asp) c.12816A>C (p.Glu4272Asp) | |
19 | g.38565153A>G | CA507355666 | RYR1 | c.1229A>G c.1211A>G c.12819A>G (p.Glu4273=) c.12804A>G (p.Glu4268=) c.12801A>G (p.Glu4267=) c.6188A>G c.12786A>G (p.Glu4262=) c.12816A>G (p.Glu4272=) | |
19 | g.38565153A>T | CA405671253 | RYR1 | c.1229A>T c.1211A>T c.12819A>T (p.Glu4273Asp) c.12804A>T (p.Glu4268Asp) c.12801A>T (p.Glu4267Asp) c.6188A>T c.12786A>T (p.Glu4262Asp) c.12816A>T (p.Glu4272Asp) | |
19 | g.38565154G>A | CA405671254 | RYR1 | c.1230G>A c.1212G>A c.12820G>A (p.Gly4274Ser) c.12805G>A (p.Gly4269Ser) c.12802G>A (p.Gly4268Ser) c.6189G>A c.12787G>A (p.Gly4263Ser) c.12817G>A (p.Gly4273Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565154G>C | CA405671256 | RYR1 | c.1230G>C c.1212G>C c.12820G>C (p.Gly4274Arg) c.12805G>C (p.Gly4269Arg) c.12802G>C (p.Gly4268Arg) c.6189G>C c.12787G>C (p.Gly4263Arg) c.12817G>C (p.Gly4273Arg) | |
19 | g.38565154G= | CA2335084683 | RYR1 | c.1230G= c.1212G= c.12820G= (p.Gly4274=) c.12805G= (p.Gly4269=) c.12802G= (p.Gly4268=) c.6189G= c.12787G= (p.Gly4263=) c.12817G= (p.Gly4273=) | |
19 | g.38565154G>T | CA405671259 | RYR1 | c.1230G>T c.1212G>T c.12820G>T (p.Gly4274Cys) c.12805G>T (p.Gly4269Cys) c.12802G>T (p.Gly4268Cys) c.6189G>T c.12787G>T (p.Gly4263Cys) c.12817G>T (p.Gly4273Cys) | |
19 | g.38565161_38565172dup | CA2335084682 | RYR1 | c.1237_1248dup c.1219_1230dup c.12827_12838dup (p.Ala4279_Ala4280insGluGluGlyAla) c.12812_12823dup (p.Ala4274_Ala4275insGluGluGlyAla) c.12809_12820dup (p.Ala4273_Ala4274insGluGluGlyAla) c.6196_6207dup c.12794_12805dup (p.Ala4268_Ala4269insGluGluGlyAla) c.12824_12835dup (p.Ala4278_Ala4279insGluGluGlyAla) | ClinVar dbSNP gnomAD v4 |
19 | g.38565161_38565172del | CA2584909120 | RYR1 | c.1237_1248del c.1219_1230del c.12827_12838del (p.Glu4276_Ala4279del) c.12812_12823del (p.Glu4271_Ala4274del) c.12809_12820del (p.Glu4270_Ala4273del) c.6196_6207del c.12794_12805del (p.Glu4265_Ala4268del) c.12824_12835del (p.Glu4275_Ala4278del) | gnomAD v4 |
19 | g.38565161_38565222del | CA2584909119 | RYR1 | c.1237_1298del c.1219_1280del c.12827_12888del (p.Glu4276GlyfsTer?) c.12812_12873del (p.Glu4271GlyfsTer?) c.12809_12870del (p.Glu4270GlyfsTer?) c.6196_6257del c.12794_12855del (p.Glu4265GlyfsTer?) c.12824_12885del (p.Glu4275GlyfsTer?) | gnomAD v4 |
19 | g.38565155G>A | CA405671261 | RYR1 | c.1231G>A c.1213G>A c.12821G>A (p.Gly4274Asp) c.12806G>A (p.Gly4269Asp) c.12803G>A (p.Gly4268Asp) c.6190G>A c.12788G>A (p.Gly4263Asp) c.12818G>A (p.Gly4273Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565155G>C | CA405671264 | RYR1 | c.1231G>C c.1213G>C c.12821G>C (p.Gly4274Ala) c.12806G>C (p.Gly4269Ala) c.12803G>C (p.Gly4268Ala) c.6190G>C c.12788G>C (p.Gly4263Ala) c.12818G>C (p.Gly4273Ala) | |
19 | g.38565155G= | CA2335084684 | RYR1 | c.1231G= c.1213G= c.12821G= (p.Gly4274=) c.12806G= (p.Gly4269=) c.12803G= (p.Gly4268=) c.6190G= c.12788G= (p.Gly4263=) c.12818G= (p.Gly4273=) | |
19 | g.38565155G>T | CA405671268 | RYR1 | c.1231G>T c.1213G>T c.12821G>T (p.Gly4274Val) c.12806G>T (p.Gly4269Val) c.12803G>T (p.Gly4268Val) c.6190G>T c.12788G>T (p.Gly4263Val) c.12818G>T (p.Gly4273Val) | gnomAD v4 |
19 | g.38565156C>A | CA507355668 | RYR1 | c.1232C>A c.1214C>A c.12822C>A (p.Gly4274=) c.12807C>A (p.Gly4269=) c.12804C>A (p.Gly4268=) c.6191C>A c.12789C>A (p.Gly4263=) c.12819C>A (p.Gly4273=) | |
19 | g.38565156C= | CA2335084685 | RYR1 | c.1232C= c.1214C= c.12822C= (p.Gly4274=) c.12807C= (p.Gly4269=) c.12804C= (p.Gly4268=) c.6191C= c.12789C= (p.Gly4263=) c.12819C= (p.Gly4273=) | |
19 | g.38565156C>G | CA507355670 | RYR1 | c.1232C>G c.1214C>G c.12822C>G (p.Gly4274=) c.12807C>G (p.Gly4269=) c.12804C>G (p.Gly4268=) c.6191C>G c.12789C>G (p.Gly4263=) c.12819C>G (p.Gly4273=) | |
19 | g.38565156C>T | CA507355671 | RYR1 | c.1232C>T c.1214C>T c.12822C>T (p.Gly4274=) c.12807C>T (p.Gly4269=) c.12804C>T (p.Gly4268=) c.6191C>T c.12789C>T (p.Gly4263=) c.12819C>T (p.Gly4273=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565157G>A | CA059468 | RYR1 | c.1233G>A c.1215G>A c.12823G>A (p.Ala4275Thr) c.12808G>A (p.Ala4270Thr) c.12805G>A (p.Ala4269Thr) c.6192G>A c.12790G>A (p.Ala4264Thr) c.12820G>A (p.Ala4274Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565157G>C | CA405671285 | RYR1 | c.1233G>C c.1215G>C c.12823G>C (p.Ala4275Pro) c.12808G>C (p.Ala4270Pro) c.12805G>C (p.Ala4269Pro) c.6192G>C c.12790G>C (p.Ala4264Pro) c.12820G>C (p.Ala4274Pro) | |
19 | g.38565157G= | CA2335084686 | RYR1 | c.1233G= c.1215G= c.12823G= (p.Ala4275=) c.12808G= (p.Ala4270=) c.12805G= (p.Ala4269=) c.6192G= c.12790G= (p.Ala4264=) c.12820G= (p.Ala4274=) | |
19 | g.38565157G>T | CA405671274 | RYR1 | c.1233G>T c.1215G>T c.12823G>T (p.Ala4275Ser) c.12808G>T (p.Ala4270Ser) c.12805G>T (p.Ala4269Ser) c.6192G>T c.12790G>T (p.Ala4264Ser) c.12820G>T (p.Ala4274Ser) | |
19 | g.38565157_38565158delinsAT | CA2573156315 | RYR1 | c.1233_1234delinsAT c.1215_1216delinsAT c.12823_12824delinsAT (p.Ala4275Met) c.12808_12809delinsAT (p.Ala4270Met) c.12805_12806delinsAT (p.Ala4269Met) c.6192_6193delinsAT c.12790_12791delinsAT (p.Ala4264Met) c.12820_12821delinsAT (p.Ala4274Met) | ClinVar dbSNP |
19 | g.38565158C>A | CA405671292 | RYR1 | c.1234C>A c.1216C>A c.12824C>A (p.Ala4275Glu) c.12809C>A (p.Ala4270Glu) c.12806C>A (p.Ala4269Glu) c.6193C>A c.12791C>A (p.Ala4264Glu) c.12821C>A (p.Ala4274Glu) | |
19 | g.38565158C= | CA2335084687 | RYR1 | c.1234C= c.1216C= c.12824C= (p.Ala4275=) c.12809C= (p.Ala4270=) c.12806C= (p.Ala4269=) c.6193C= c.12791C= (p.Ala4264=) c.12821C= (p.Ala4274=) | |
19 | g.38565158C>G | CA405671287 | RYR1 | c.1234C>G c.1216C>G c.12824C>G (p.Ala4275Gly) c.12809C>G (p.Ala4270Gly) c.12806C>G (p.Ala4269Gly) c.6193C>G c.12791C>G (p.Ala4264Gly) c.12821C>G (p.Ala4274Gly) | |
19 | g.38565158C>T | CA405671290 | RYR1 | c.1234C>T c.1216C>T c.12824C>T (p.Ala4275Val) c.12809C>T (p.Ala4270Val) c.12806C>T (p.Ala4269Val) c.6193C>T c.12791C>T (p.Ala4264Val) c.12821C>T (p.Ala4274Val) | dbSNP gnomAD v4 |
19 | g.38565159G>A | CA507355675 | RYR1 | c.1235G>A c.1217G>A c.12825G>A (p.Ala4275=) c.12810G>A (p.Ala4270=) c.12807G>A (p.Ala4269=) c.6194G>A c.12792G>A (p.Ala4264=) c.12822G>A (p.Ala4274=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565159G>C | CA507355676 | RYR1 | c.1235G>C c.1217G>C c.12825G>C (p.Ala4275=) c.12810G>C (p.Ala4270=) c.12807G>C (p.Ala4269=) c.6194G>C c.12792G>C (p.Ala4264=) c.12822G>C (p.Ala4274=) | |
19 | g.38565159G= | CA2335084688 | RYR1 | c.1235G= c.1217G= c.12825G= (p.Ala4275=) c.12810G= (p.Ala4270=) c.12807G= (p.Ala4269=) c.6194G= c.12792G= (p.Ala4264=) c.12822G= (p.Ala4274=) | |
19 | g.38565159G>T | CA507355677 | RYR1 | c.1235G>T c.1217G>T c.12825G>T (p.Ala4275=) c.12810G>T (p.Ala4270=) c.12807G>T (p.Ala4269=) c.6194G>T c.12792G>T (p.Ala4264=) c.12822G>T (p.Ala4274=) | |
19 | g.38565160G>A | CA080769 | RYR1 | c.1236G>A c.1218G>A c.12826G>A (p.Glu4276Lys) c.12811G>A (p.Glu4271Lys) c.12808G>A (p.Glu4270Lys) c.6195G>A c.12793G>A (p.Glu4265Lys) c.12823G>A (p.Glu4275Lys) | |
19 | g.38565160G>C | CA405671296 | RYR1 | c.1236G>C c.1218G>C c.12826G>C (p.Glu4276Gln) c.12811G>C (p.Glu4271Gln) c.12808G>C (p.Glu4270Gln) c.6195G>C c.12793G>C (p.Glu4265Gln) c.12823G>C (p.Glu4275Gln) | dbSNP |
19 | g.38565160G= | CA2335084689 | RYR1 | c.1236G= c.1218G= c.12826G= (p.Glu4276=) c.12811G= (p.Glu4271=) c.12808G= (p.Glu4270=) c.6195G= c.12793G= (p.Glu4265=) c.12823G= (p.Glu4275=) | |
19 | g.38565160G>T | CA405671298 | RYR1 | c.1236G>T c.1218G>T c.12826G>T (p.Glu4276Ter) c.12811G>T (p.Glu4271Ter) c.12808G>T (p.Glu4270Ter) c.6195G>T c.12793G>T (p.Glu4265Ter) c.12823G>T (p.Glu4275Ter) | |
19 | g.38565161A= | CA2335084690 | RYR1 | c.1237A= c.1219A= c.12827A= (p.Glu4276=) c.12812A= (p.Glu4271=) c.12809A= (p.Glu4270=) c.6196A= c.12794A= (p.Glu4265=) c.12824A= (p.Glu4275=) | |
19 | g.38565161A>C | CA405671315 | RYR1 | c.1237A>C c.1219A>C c.12827A>C (p.Glu4276Ala) c.12812A>C (p.Glu4271Ala) c.12809A>C (p.Glu4270Ala) c.6196A>C c.12794A>C (p.Glu4265Ala) c.12824A>C (p.Glu4275Ala) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565161A>G | CA405671334 | RYR1 | c.1237A>G c.1219A>G c.12827A>G (p.Glu4276Gly) c.12812A>G (p.Glu4271Gly) c.12809A>G (p.Glu4270Gly) c.6196A>G c.12794A>G (p.Glu4265Gly) c.12824A>G (p.Glu4275Gly) | |
19 | g.38565161A>T | CA405671337 | RYR1 | c.1237A>T c.1219A>T c.12827A>T (p.Glu4276Val) c.12812A>T (p.Glu4271Val) c.12809A>T (p.Glu4270Val) c.6196A>T c.12794A>T (p.Glu4265Val) c.12824A>T (p.Glu4275Val) | |
19 | g.38565162G>A | CA507355681 | RYR1 | c.1238G>A c.1220G>A c.12828G>A (p.Glu4276=) c.12813G>A (p.Glu4271=) c.12810G>A (p.Glu4270=) c.6197G>A c.12795G>A (p.Glu4265=) c.12825G>A (p.Glu4275=) | gnomAD v4 |
19 | g.38565162G>C | CA405671348 | RYR1 | c.1238G>C c.1220G>C c.12828G>C (p.Glu4276Asp) c.12813G>C (p.Glu4271Asp) c.12810G>C (p.Glu4270Asp) c.6197G>C c.12795G>C (p.Glu4265Asp) c.12825G>C (p.Glu4275Asp) | |
19 | g.38565162G= | CA2335084691 | RYR1 | c.1238G= c.1220G= c.12828G= (p.Glu4276=) c.12813G= (p.Glu4271=) c.12810G= (p.Glu4270=) c.6197G= c.12795G= (p.Glu4265=) c.12825G= (p.Glu4275=) | |
19 | g.38565162G>T | CA405671359 | RYR1 | c.1238G>T c.1220G>T c.12828G>T (p.Glu4276Asp) c.12813G>T (p.Glu4271Asp) c.12810G>T (p.Glu4270Asp) c.6197G>T c.12795G>T (p.Glu4265Asp) c.12825G>T (p.Glu4275Asp) | |
19 | g.38565164_38565175dup | CA2576772094 | RYR1 | c.1240_1251dup c.1222_1233dup c.12830_12841dup (p.Ala4280_Gly4281insGluGlyAlaAla) c.12815_12826dup (p.Ala4275_Gly4276insGluGlyAlaAla) c.12812_12823dup (p.Ala4274_Gly4275insGluGlyAlaAla) c.6199_6210dup c.12797_12808dup (p.Ala4269_Gly4270insGluGlyAlaAla) c.12827_12838dup (p.Ala4279_Gly4280insGluGlyAlaAla) | gnomAD v4 |
19 | g.38565163G>A | CA405671364 | RYR1 | c.1239G>A c.1221G>A c.12829G>A (p.Glu4277Lys) c.12814G>A (p.Glu4272Lys) c.12811G>A (p.Glu4271Lys) c.6198G>A c.12796G>A (p.Glu4266Lys) c.12826G>A (p.Glu4276Lys) | ClinVar |
19 | g.38565163G>C | CA405671365 | RYR1 | c.1239G>C c.1221G>C c.12829G>C (p.Glu4277Gln) c.12814G>C (p.Glu4272Gln) c.12811G>C (p.Glu4271Gln) c.6198G>C c.12796G>C (p.Glu4266Gln) c.12826G>C (p.Glu4276Gln) | |
19 | g.38565163G>T | CA405671366 | RYR1 | c.1239G>T c.1221G>T c.12829G>T (p.Glu4277Ter) c.12814G>T (p.Glu4272Ter) c.12811G>T (p.Glu4271Ter) c.6198G>T c.12796G>T (p.Glu4266Ter) c.12826G>T (p.Glu4276Ter) | ClinVar dbSNP gnomAD v4 |
19 | g.38565169_38565186dup | CA633066818 | RYR1 | c.1245_1262dup c.1227_1244dup c.12835_12852dup (p.Gly4284_Thr4285insAlaAlaGlyLeuGluGly) c.12820_12837dup (p.Gly4279_Thr4280insAlaAlaGlyLeuGluGly) c.12817_12834dup (p.Gly4278_Thr4279insAlaAlaGlyLeuGluGly) c.6204_6221dup c.12802_12819dup (p.Gly4273_Thr4274insAlaAlaGlyLeuGluGly) c.12832_12849dup (p.Gly4283_Thr4284insAlaAlaGlyLeuGluGly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |