Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38564970_38565018delinsCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAG | CA2335084576 | RYR1 | c.1046_1094delinsCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAG c.1028_1076delinsCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAG c.12636_12684delinsCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAG (p.Ser4212=) c.12621_12669delinsCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAG (p.Ser4207=) c.12618_12666delinsCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAG (p.Ser4206=) c.6005_6053delinsCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAG c.12603_12651delinsCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAG (p.Ser4201=) c.12633_12681delinsCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAG (p.Ser4211=) | |
19 | g.38564974_38565021del | CA308108960 | RYR1 | c.1050_1097del c.1032_1079del c.12640_12687del (p.Arg4214_Lys4229del) c.12625_12672del (p.Arg4209_Lys4224del) c.12622_12669del (p.Arg4208_Lys4223del) c.6009_6056del c.12607_12654del (p.Arg4203_Lys4218del) c.12637_12684del (p.Arg4213_Lys4228del) | dbSNP |
19 | g.38565015_38565027del | CA2537586552 | RYR1 | c.1091_1103del c.1073_1085del c.12681_12693del (p.Glu4228SerfsTer3) c.12666_12678del (p.Glu4223SerfsTer3) c.12663_12675del (p.Glu4222SerfsTer3) c.6050_6062del c.12648_12660del (p.Glu4217SerfsTer3) c.12678_12690del (p.Glu4227SerfsTer3) | |
19 | g.38565019_38565038dup | CA2697556502 | RYR1 | c.1095_1114dup c.1077_1096dup c.12685_12704dup (p.Ser4235ArgfsTer7) c.12670_12689dup (p.Ser4230ArgfsTer7) c.12667_12686dup (p.Ser4229ArgfsTer7) c.6054_6073dup c.12652_12671dup (p.Ser4224ArgfsTer7) c.12682_12701dup (p.Ser4234ArgfsTer7) | ClinVar |
19 | g.38565018G>A | CA507355415 | RYR1 | c.1094G>A c.1076G>A c.12684G>A (p.Glu4228=) c.12669G>A (p.Glu4223=) c.12666G>A (p.Glu4222=) c.6053G>A c.12651G>A (p.Glu4217=) c.12681G>A (p.Glu4227=) | ClinVar dbSNP |
19 | g.38565018G>C | CA405670913 | RYR1 | c.1094G>C c.1076G>C c.12684G>C (p.Glu4228Asp) c.12669G>C (p.Glu4223Asp) c.12666G>C (p.Glu4222Asp) c.6053G>C c.12651G>C (p.Glu4217Asp) c.12681G>C (p.Glu4227Asp) | |
19 | g.38565018G= | CA2335084598 | RYR1 | c.1094G= c.1076G= c.12684G= (p.Glu4228=) c.12669G= (p.Glu4223=) c.12666G= (p.Glu4222=) c.6053G= c.12651G= (p.Glu4217=) c.12681G= (p.Glu4227=) | |
19 | g.38565018G>T | CA405670914 | RYR1 | c.1094G>T c.1076G>T c.12684G>T (p.Glu4228Asp) c.12669G>T (p.Glu4223Asp) c.12666G>T (p.Glu4222Asp) c.6053G>T c.12651G>T (p.Glu4217Asp) c.12681G>T (p.Glu4227Asp) | |
19 | g.38565019A>C | CA405670917 | RYR1 | c.1095A>C c.1077A>C c.12685A>C (p.Lys4229Gln) c.12670A>C (p.Lys4224Gln) c.12667A>C (p.Lys4223Gln) c.6054A>C c.12652A>C (p.Lys4218Gln) c.12682A>C (p.Lys4228Gln) | |
19 | g.38565019A>G | CA405670915 | RYR1 | c.1095A>G c.1077A>G c.12685A>G (p.Lys4229Glu) c.12670A>G (p.Lys4224Glu) c.12667A>G (p.Lys4223Glu) c.6054A>G c.12652A>G (p.Lys4218Glu) c.12682A>G (p.Lys4228Glu) | |
19 | g.38565019A>T | CA405670916 | RYR1 | c.1095A>T c.1077A>T c.12685A>T (p.Lys4229Ter) c.12670A>T (p.Lys4224Ter) c.12667A>T (p.Lys4223Ter) c.6054A>T c.12652A>T (p.Lys4218Ter) c.12682A>T (p.Lys4228Ter) | |
19 | g.38565020A>C | CA405670918 | RYR1 | c.1096A>C c.1078A>C c.12686A>C (p.Lys4229Thr) c.12671A>C (p.Lys4224Thr) c.12668A>C (p.Lys4223Thr) c.6055A>C c.12653A>C (p.Lys4218Thr) c.12683A>C (p.Lys4228Thr) | |
19 | g.38565020A>G | CA405670919 | RYR1 | c.1096A>G c.1078A>G c.12686A>G (p.Lys4229Arg) c.12671A>G (p.Lys4224Arg) c.12668A>G (p.Lys4223Arg) c.6055A>G c.12653A>G (p.Lys4218Arg) c.12683A>G (p.Lys4228Arg) | |
19 | g.38565020A>T | CA405670920 | RYR1 | c.1096A>T c.1078A>T c.12686A>T (p.Lys4229Met) c.12671A>T (p.Lys4224Met) c.12668A>T (p.Lys4223Met) c.6055A>T c.12653A>T (p.Lys4218Met) c.12683A>T (p.Lys4228Met) | |
19 | g.38565021G>A | CA507355422 | RYR1 | c.1097G>A c.1079G>A c.12687G>A (p.Lys4229=) c.12672G>A (p.Lys4224=) c.12669G>A (p.Lys4223=) c.6056G>A c.12654G>A (p.Lys4218=) c.12684G>A (p.Lys4228=) | gnomAD v4 |
19 | g.38565021G>C | CA405670921 | RYR1 | c.1097G>C c.1079G>C c.12687G>C (p.Lys4229Asn) c.12672G>C (p.Lys4224Asn) c.12669G>C (p.Lys4223Asn) c.6056G>C c.12654G>C (p.Lys4218Asn) c.12684G>C (p.Lys4228Asn) | |
19 | g.38565021G>T | CA405670922 | RYR1 | c.1097G>T c.1079G>T c.12687G>T (p.Lys4229Asn) c.12672G>T (p.Lys4224Asn) c.12669G>T (p.Lys4223Asn) c.6056G>T c.12654G>T (p.Lys4218Asn) c.12684G>T (p.Lys4228Asn) | ClinVar |
19 | g.38565022A= | CA2335084599 | RYR1 | c.1098A= c.1080A= c.12688A= (p.Met4230=) c.12673A= (p.Met4225=) c.12670A= (p.Met4224=) c.6057A= c.12655A= (p.Met4219=) c.12685A= (p.Met4229=) | |
19 | g.38565022A>C | CA405670924 | RYR1 | c.1098A>C c.1080A>C c.12688A>C (p.Met4230Leu) c.12673A>C (p.Met4225Leu) c.12670A>C (p.Met4224Leu) c.6057A>C c.12655A>C (p.Met4219Leu) c.12685A>C (p.Met4229Leu) | |
19 | g.38565022A>G | CA059340 | RYR1 | c.1098A>G c.1080A>G c.12688A>G (p.Met4230Val) c.12673A>G (p.Met4225Val) c.12670A>G (p.Met4224Val) c.6057A>G c.12655A>G (p.Met4219Val) c.12685A>G (p.Met4229Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38565022A>T | CA405670923 | RYR1 | c.1098A>T c.1080A>T c.12688A>T (p.Met4230Leu) c.12673A>T (p.Met4225Leu) c.12670A>T (p.Met4224Leu) c.6057A>T c.12655A>T (p.Met4219Leu) c.12685A>T (p.Met4229Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565023T>A | CA405670925 | RYR1 | c.1099T>A c.1081T>A c.12689T>A (p.Met4230Lys) c.12674T>A (p.Met4225Lys) c.12671T>A (p.Met4224Lys) c.6058T>A c.12656T>A (p.Met4219Lys) c.12686T>A (p.Met4229Lys) | |
19 | g.38565023T>C | CA405670926 | RYR1 | c.1099T>C c.1081T>C c.12689T>C (p.Met4230Thr) c.12674T>C (p.Met4225Thr) c.12671T>C (p.Met4224Thr) c.6058T>C c.12656T>C (p.Met4219Thr) c.12686T>C (p.Met4229Thr) | gnomAD v4 |
19 | g.38565023T>G | CA405670927 | RYR1 | c.1099T>G c.1081T>G c.12689T>G (p.Met4230Arg) c.12674T>G (p.Met4225Arg) c.12671T>G (p.Met4224Arg) c.6058T>G c.12656T>G (p.Met4219Arg) c.12686T>G (p.Met4229Arg) | ClinVar dbSNP gnomAD v4 |
19 | g.38565023T= | CA2335084600 | RYR1 | c.1099T= c.1081T= c.12689T= (p.Met4230=) c.12674T= (p.Met4225=) c.12671T= (p.Met4224=) c.6058T= c.12656T= (p.Met4219=) c.12686T= (p.Met4229=) | |
19 | g.38565024G>A | CA405670928 | RYR1 | c.1100G>A c.1082G>A c.12690G>A (p.Met4230Ile) c.12675G>A (p.Met4225Ile) c.12672G>A (p.Met4224Ile) c.6059G>A c.12657G>A (p.Met4219Ile) c.12687G>A (p.Met4229Ile) | gnomAD v4 |
19 | g.38565024G>C | CA405670929 | RYR1 | c.1100G>C c.1082G>C c.12690G>C (p.Met4230Ile) c.12675G>C (p.Met4225Ile) c.12672G>C (p.Met4224Ile) c.6059G>C c.12657G>C (p.Met4219Ile) c.12687G>C (p.Met4229Ile) | gnomAD v4 |
19 | g.38565024G>T | CA405670930 | RYR1 | c.1100G>T c.1082G>T c.12690G>T (p.Met4230Ile) c.12675G>T (p.Met4225Ile) c.12672G>T (p.Met4224Ile) c.6059G>T c.12657G>T (p.Met4219Ile) c.12687G>T (p.Met4229Ile) | gnomAD v4 |
19 | g.38565025dup | CA913189010 | RYR1 | c.1101dup c.1083dup c.12691dup (p.Glu4231GlyfsTer?) c.12676dup (p.Glu4226GlyfsTer?) c.12673dup (p.Glu4225GlyfsTer?) c.6060dup c.12658dup (p.Glu4220GlyfsTer?) c.12688dup (p.Glu4230GlyfsTer?) | |
19 | g.38565025G>A | CA405670931 | RYR1 | c.1101G>A c.1083G>A c.12691G>A (p.Glu4231Lys) c.12676G>A (p.Glu4226Lys) c.12673G>A (p.Glu4225Lys) c.6060G>A c.12658G>A (p.Glu4220Lys) c.12688G>A (p.Glu4230Lys) | |
19 | g.38565025G>C | CA405670933 | RYR1 | c.1101G>C c.1083G>C c.12691G>C (p.Glu4231Gln) c.12676G>C (p.Glu4226Gln) c.12673G>C (p.Glu4225Gln) c.6060G>C c.12658G>C (p.Glu4220Gln) c.12688G>C (p.Glu4230Gln) | |
19 | g.38565025G>T | CA405670932 | RYR1 | c.1101G>T c.1083G>T c.12691G>T (p.Glu4231Ter) c.12676G>T (p.Glu4226Ter) c.12673G>T (p.Glu4225Ter) c.6060G>T c.12658G>T (p.Glu4220Ter) c.12688G>T (p.Glu4230Ter) | gnomAD v4 |
19 | g.38565026A>C | CA405670934 | RYR1 | c.1102A>C c.1084A>C c.12692A>C (p.Glu4231Ala) c.12677A>C (p.Glu4226Ala) c.12674A>C (p.Glu4225Ala) c.6061A>C c.12659A>C (p.Glu4220Ala) c.12689A>C (p.Glu4230Ala) | |
19 | g.38565026A>G | CA405670935 | RYR1 | c.1102A>G c.1084A>G c.12692A>G (p.Glu4231Gly) c.12677A>G (p.Glu4226Gly) c.12674A>G (p.Glu4225Gly) c.6061A>G c.12659A>G (p.Glu4220Gly) c.12689A>G (p.Glu4230Gly) | |
19 | g.38565026A>T | CA405670936 | RYR1 | c.1102A>T c.1084A>T c.12692A>T (p.Glu4231Val) c.12677A>T (p.Glu4226Val) c.12674A>T (p.Glu4225Val) c.6061A>T c.12659A>T (p.Glu4220Val) c.12689A>T (p.Glu4230Val) | |
19 | g.38565027G>A | CA507355429 | RYR1 | c.1103G>A c.1085G>A c.12693G>A (p.Glu4231=) c.12678G>A (p.Glu4226=) c.12675G>A (p.Glu4225=) c.6062G>A c.12660G>A (p.Glu4220=) c.12690G>A (p.Glu4230=) | gnomAD v4 |
19 | g.38565027G>C | CA405670937 | RYR1 | c.1103G>C c.1085G>C c.12693G>C (p.Glu4231Asp) c.12678G>C (p.Glu4226Asp) c.12675G>C (p.Glu4225Asp) c.6062G>C c.12660G>C (p.Glu4220Asp) c.12690G>C (p.Glu4230Asp) | |
19 | g.38565027G= | CA2335084601 | RYR1 | c.1103G= c.1085G= c.12693G= (p.Glu4231=) c.12678G= (p.Glu4226=) c.12675G= (p.Glu4225=) c.6062G= c.12660G= (p.Glu4220=) c.12690G= (p.Glu4230=) | |
19 | g.38565027G>T | CA405670938 | RYR1 | c.1103G>T c.1085G>T c.12693G>T (p.Glu4231Asp) c.12678G>T (p.Glu4226Asp) c.12675G>T (p.Glu4225Asp) c.6062G>T c.12660G>T (p.Glu4220Asp) c.12690G>T (p.Glu4230Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565028C>A | CA405670939 | RYR1 | c.1104C>A c.1086C>A c.12694C>A (p.Leu4232Ile) c.12679C>A (p.Leu4227Ile) c.12676C>A (p.Leu4226Ile) c.6063C>A c.12661C>A (p.Leu4221Ile) c.12691C>A (p.Leu4231Ile) | gnomAD v4 COSMIC |
19 | g.38565028C>G | CA405670940 | RYR1 | c.1104C>G c.1086C>G c.12694C>G (p.Leu4232Val) c.12679C>G (p.Leu4227Val) c.12676C>G (p.Leu4226Val) c.6063C>G c.12661C>G (p.Leu4221Val) c.12691C>G (p.Leu4231Val) | gnomAD v4 |
19 | g.38565028C>T | CA405670941 | RYR1 | c.1104C>T c.1086C>T c.12694C>T (p.Leu4232Phe) c.12679C>T (p.Leu4227Phe) c.12676C>T (p.Leu4226Phe) c.6063C>T c.12661C>T (p.Leu4221Phe) c.12691C>T (p.Leu4231Phe) | ClinVar dbSNP gnomAD v4 |
19 | g.38565029T>A | CA405670942 | RYR1 | c.1105T>A c.1087T>A c.12695T>A (p.Leu4232His) c.12680T>A (p.Leu4227His) c.12677T>A (p.Leu4226His) c.6064T>A c.12662T>A (p.Leu4221His) c.12692T>A (p.Leu4231His) | |
19 | g.38565029T>C | CA405670943 | RYR1 | c.1105T>C c.1087T>C c.12695T>C (p.Leu4232Pro) c.12680T>C (p.Leu4227Pro) c.12677T>C (p.Leu4226Pro) c.6064T>C c.12662T>C (p.Leu4221Pro) c.12692T>C (p.Leu4231Pro) | ClinVar |
19 | g.38565029T>G | CA405670944 | RYR1 | c.1105T>G c.1087T>G c.12695T>G (p.Leu4232Arg) c.12680T>G (p.Leu4227Arg) c.12677T>G (p.Leu4226Arg) c.6064T>G c.12662T>G (p.Leu4221Arg) c.12692T>G (p.Leu4231Arg) | |
19 | g.38565030C>A | CA507355434 | RYR1 | c.1106C>A c.1088C>A c.12696C>A (p.Leu4232=) c.12681C>A (p.Leu4227=) c.12678C>A (p.Leu4226=) c.6065C>A c.12663C>A (p.Leu4221=) c.12693C>A (p.Leu4231=) | gnomAD v4 |
19 | g.38565030C>G | CA507355435 | RYR1 | c.1106C>G c.1088C>G c.12696C>G (p.Leu4232=) c.12681C>G (p.Leu4227=) c.12678C>G (p.Leu4226=) c.6065C>G c.12663C>G (p.Leu4221=) c.12693C>G (p.Leu4231=) | |
19 | g.38565030C>T | CA507355436 | RYR1 | c.1106C>T c.1088C>T c.12696C>T (p.Leu4232=) c.12681C>T (p.Leu4227=) c.12678C>T (p.Leu4226=) c.6065C>T c.12663C>T (p.Leu4221=) c.12693C>T (p.Leu4231=) | |
19 | g.38565031T>A | CA405670945 | RYR1 | c.1107T>A c.1089T>A c.12697T>A (p.Phe4233Ile) c.12682T>A (p.Phe4228Ile) c.12679T>A (p.Phe4227Ile) c.6066T>A c.12664T>A (p.Phe4222Ile) c.12694T>A (p.Phe4232Ile) | |
19 | g.38565031T>C | CA405670947 | RYR1 | c.1107T>C c.1089T>C c.12697T>C (p.Phe4233Leu) c.12682T>C (p.Phe4228Leu) c.12679T>C (p.Phe4227Leu) c.6066T>C c.12664T>C (p.Phe4222Leu) c.12694T>C (p.Phe4232Leu) | |
19 | g.38565031T>G | CA405670946 | RYR1 | c.1107T>G c.1089T>G c.12697T>G (p.Phe4233Val) c.12682T>G (p.Phe4228Val) c.12679T>G (p.Phe4227Val) c.6066T>G c.12664T>G (p.Phe4222Val) c.12694T>G (p.Phe4232Val) | |
19 | g.38565032T>A | CA405670948 | RYR1 | c.1108T>A c.1090T>A c.12698T>A (p.Phe4233Tyr) c.12683T>A (p.Phe4228Tyr) c.12680T>A (p.Phe4227Tyr) c.6067T>A c.12665T>A (p.Phe4222Tyr) c.12695T>A (p.Phe4232Tyr) | |
19 | g.38565032T>C | CA405670950 | RYR1 | c.1108T>C c.1090T>C c.12698T>C (p.Phe4233Ser) c.12683T>C (p.Phe4228Ser) c.12680T>C (p.Phe4227Ser) c.6067T>C c.12665T>C (p.Phe4222Ser) c.12695T>C (p.Phe4232Ser) | |
19 | g.38565032T>G | CA405670949 | RYR1 | c.1108T>G c.1090T>G c.12698T>G (p.Phe4233Cys) c.12683T>G (p.Phe4228Cys) c.12680T>G (p.Phe4227Cys) c.6067T>G c.12665T>G (p.Phe4222Cys) c.12695T>G (p.Phe4232Cys) | gnomAD v4 |
19 | g.38565033C>A | CA405670951 | RYR1 | c.1109C>A c.1091C>A c.12699C>A (p.Phe4233Leu) c.12684C>A (p.Phe4228Leu) c.12681C>A (p.Phe4227Leu) c.6068C>A c.12666C>A (p.Phe4222Leu) c.12696C>A (p.Phe4232Leu) | gnomAD v4 |
19 | g.38565033C>G | CA405670952 | RYR1 | c.1109C>G c.1091C>G c.12699C>G (p.Phe4233Leu) c.12684C>G (p.Phe4228Leu) c.12681C>G (p.Phe4227Leu) c.6068C>G c.12666C>G (p.Phe4222Leu) c.12696C>G (p.Phe4232Leu) | gnomAD v4 |
19 | g.38565033C>T | CA507355437 | RYR1 | c.1109C>T c.1091C>T c.12699C>T (p.Phe4233=) c.12684C>T (p.Phe4228=) c.12681C>T (p.Phe4227=) c.6068C>T c.12666C>T (p.Phe4222=) c.12696C>T (p.Phe4232=) | gnomAD v4 COSMIC |
19 | g.38565034G>A | CA308109054 | RYR1 | c.1110G>A c.1092G>A c.12700G>A (p.Val4234Met) c.12685G>A (p.Val4229Met) c.12682G>A (p.Val4228Met) c.6069G>A c.12667G>A (p.Val4223Met) c.12697G>A (p.Val4233Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565034G>C | CA024001 | RYR1 | c.1110G>C c.1092G>C c.12700G>C (p.Val4234Leu) c.12685G>C (p.Val4229Leu) c.12682G>C (p.Val4228Leu) c.6069G>C c.12667G>C (p.Val4223Leu) c.12697G>C (p.Val4233Leu) | ClinVar dbSNP |
19 | g.38565034G= | CA2335084602 | RYR1 | c.1110G= c.1092G= c.12700G= (p.Val4234=) c.12685G= (p.Val4229=) c.12682G= (p.Val4228=) c.6069G= c.12667G= (p.Val4223=) c.12697G= (p.Val4233=) | |
19 | g.38565034G>T | CA405670953 | RYR1 | c.1110G>T c.1092G>T c.12700G>T (p.Val4234Leu) c.12685G>T (p.Val4229Leu) c.12682G>T (p.Val4228Leu) c.6069G>T c.12667G>T (p.Val4223Leu) c.12697G>T (p.Val4233Leu) | ClinVar dbSNP gnomAD v4 |
19 | g.38565035T>A | CA405670954 | RYR1 | c.1111T>A c.1093T>A c.12701T>A (p.Val4234Glu) c.12686T>A (p.Val4229Glu) c.12683T>A (p.Val4228Glu) c.6070T>A c.12668T>A (p.Val4223Glu) c.12698T>A (p.Val4233Glu) | |
19 | g.38565035T>C | CA405670955 | RYR1 | c.1111T>C c.1093T>C c.12701T>C (p.Val4234Ala) c.12686T>C (p.Val4229Ala) c.12683T>C (p.Val4228Ala) c.6070T>C c.12668T>C (p.Val4223Ala) c.12698T>C (p.Val4233Ala) | gnomAD v4 |
19 | g.38565035T>G | CA405670956 | RYR1 | c.1111T>G c.1093T>G c.12701T>G (p.Val4234Gly) c.12686T>G (p.Val4229Gly) c.12683T>G (p.Val4228Gly) c.6070T>G c.12668T>G (p.Val4223Gly) c.12698T>G (p.Val4233Gly) | |
19 | g.38565035T= | CA2335084603 | RYR1 | c.1111T= c.1093T= c.12701T= (p.Val4234=) c.12686T= (p.Val4229=) c.12683T= (p.Val4228=) c.6070T= c.12668T= (p.Val4223=) c.12698T= (p.Val4233=) | |
19 | g.38565035_38565037del | CA2538827511 | RYR1 | c.1111_1113del c.1093_1095del c.12701_12703del (p.Val4234_Ser4235delinsGly) c.12686_12688del (p.Val4229_Ser4230delinsGly) c.12683_12685del (p.Val4228_Ser4229delinsGly) c.6070_6072del c.12668_12670del (p.Val4223_Ser4224delinsGly) c.12698_12700del (p.Val4233_Ser4234delinsGly) | |
19 | g.38565036G>A | CA507355441 | RYR1 | c.1112G>A c.1094G>A c.12702G>A (p.Val4234=) c.12687G>A (p.Val4229=) c.12684G>A (p.Val4228=) c.6071G>A c.12669G>A (p.Val4223=) c.12699G>A (p.Val4233=) | gnomAD v4 |
19 | g.38565036G>C | CA507355442 | RYR1 | c.1112G>C c.1094G>C c.12702G>C (p.Val4234=) c.12687G>C (p.Val4229=) c.12684G>C (p.Val4228=) c.6071G>C c.12669G>C (p.Val4223=) c.12699G>C (p.Val4233=) | |
19 | g.38565036G>T | CA507355443 | RYR1 | c.1112G>T c.1094G>T c.12702G>T (p.Val4234=) c.12687G>T (p.Val4229=) c.12684G>T (p.Val4228=) c.6071G>T c.12669G>T (p.Val4223=) c.12699G>T (p.Val4233=) | gnomAD v4 |
19 | g.38565037_38565048dup | CA633066787 | RYR1 | c.1113_1124dup c.1095_1106dup c.12703_12714dup (p.Glu4238_Asp4239insSerPheCysGlu) c.12688_12699dup (p.Glu4233_Asp4234insSerPheCysGlu) c.12685_12696dup (p.Glu4232_Asp4233insSerPheCysGlu) c.6072_6083dup c.12670_12681dup (p.Glu4227_Asp4228insSerPheCysGlu) c.12700_12711dup (p.Glu4237_Asp4238insSerPheCysGlu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565037A>C | CA405670957 | RYR1 | c.1113A>C c.1095A>C c.12703A>C (p.Ser4235Arg) c.12688A>C (p.Ser4230Arg) c.12685A>C (p.Ser4229Arg) c.6072A>C c.12670A>C (p.Ser4224Arg) c.12700A>C (p.Ser4234Arg) | |
19 | g.38565037A>G | CA405670958 | RYR1 | c.1113A>G c.1095A>G c.12703A>G (p.Ser4235Gly) c.12688A>G (p.Ser4230Gly) c.12685A>G (p.Ser4229Gly) c.6072A>G c.12670A>G (p.Ser4224Gly) c.12700A>G (p.Ser4234Gly) | |
19 | g.38565037A>T | CA405670959 | RYR1 | c.1113A>T c.1095A>T c.12703A>T (p.Ser4235Cys) c.12688A>T (p.Ser4230Cys) c.12685A>T (p.Ser4229Cys) c.6072A>T c.12670A>T (p.Ser4224Cys) c.12700A>T (p.Ser4234Cys) | |
19 | g.38565038G>A | CA405670962 | RYR1 | c.1114G>A c.1096G>A c.12704G>A (p.Ser4235Asn) c.12689G>A (p.Ser4230Asn) c.12686G>A (p.Ser4229Asn) c.6073G>A c.12671G>A (p.Ser4224Asn) c.12701G>A (p.Ser4234Asn) | gnomAD v4 COSMIC |
19 | g.38565038G>C | CA405670961 | RYR1 | c.1114G>C c.1096G>C c.12704G>C (p.Ser4235Thr) c.12689G>C (p.Ser4230Thr) c.12686G>C (p.Ser4229Thr) c.6073G>C c.12671G>C (p.Ser4224Thr) c.12701G>C (p.Ser4234Thr) | |
19 | g.38565038G>T | CA405670960 | RYR1 | c.1114G>T c.1096G>T c.12704G>T (p.Ser4235Ile) c.12689G>T (p.Ser4230Ile) c.12686G>T (p.Ser4229Ile) c.6073G>T c.12671G>T (p.Ser4224Ile) c.12701G>T (p.Ser4234Ile) | |
19 | g.38565039T>A | CA405670963 | RYR1 | c.1115T>A c.1097T>A c.12705T>A (p.Ser4235Arg) c.12690T>A (p.Ser4230Arg) c.12687T>A (p.Ser4229Arg) c.6074T>A c.12672T>A (p.Ser4224Arg) c.12702T>A (p.Ser4234Arg) | |
19 | g.38565039T>C | CA507355446 | RYR1 | c.1115T>C c.1097T>C c.12705T>C (p.Ser4235=) c.12690T>C (p.Ser4230=) c.12687T>C (p.Ser4229=) c.6074T>C c.12672T>C (p.Ser4224=) c.12702T>C (p.Ser4234=) | |
19 | g.38565039T>G | CA405670964 | RYR1 | c.1115T>G c.1097T>G c.12705T>G (p.Ser4235Arg) c.12690T>G (p.Ser4230Arg) c.12687T>G (p.Ser4229Arg) c.6074T>G c.12672T>G (p.Ser4224Arg) c.12702T>G (p.Ser4234Arg) | |
19 | g.38565040T>A | CA405670965 | RYR1 | c.1116T>A c.1098T>A c.12706T>A (p.Phe4236Ile) c.12691T>A (p.Phe4231Ile) c.12688T>A (p.Phe4230Ile) c.6075T>A c.12673T>A (p.Phe4225Ile) c.12703T>A (p.Phe4235Ile) | |
19 | g.38565040T>C | CA405670966 | RYR1 | c.1116T>C c.1098T>C c.12706T>C (p.Phe4236Leu) c.12691T>C (p.Phe4231Leu) c.12688T>C (p.Phe4230Leu) c.6075T>C c.12673T>C (p.Phe4225Leu) c.12703T>C (p.Phe4235Leu) | |
19 | g.38565040T>G | CA405670967 | RYR1 | c.1116T>G c.1098T>G c.12706T>G (p.Phe4236Val) c.12691T>G (p.Phe4231Val) c.12688T>G (p.Phe4230Val) c.6075T>G c.12673T>G (p.Phe4225Val) c.12703T>G (p.Phe4235Val) | |
19 | g.38565041T>A | CA405670968 | RYR1 | c.1117T>A c.1099T>A c.12707T>A (p.Phe4236Tyr) c.12692T>A (p.Phe4231Tyr) c.12689T>A (p.Phe4230Tyr) c.6076T>A c.12674T>A (p.Phe4225Tyr) c.12704T>A (p.Phe4235Tyr) | |
19 | g.38565041T>C | CA405670969 | RYR1 | c.1117T>C c.1099T>C c.12707T>C (p.Phe4236Ser) c.12692T>C (p.Phe4231Ser) c.12689T>C (p.Phe4230Ser) c.6076T>C c.12674T>C (p.Phe4225Ser) c.12704T>C (p.Phe4235Ser) | |
19 | g.38565041T>G | CA405670970 | RYR1 | c.1117T>G c.1099T>G c.12707T>G (p.Phe4236Cys) c.12692T>G (p.Phe4231Cys) c.12689T>G (p.Phe4230Cys) c.6076T>G c.12674T>G (p.Phe4225Cys) c.12704T>G (p.Phe4235Cys) | |
19 | g.38565042C>A | CA405670971 | RYR1 | c.1118C>A c.1100C>A c.12708C>A (p.Phe4236Leu) c.12693C>A (p.Phe4231Leu) c.12690C>A (p.Phe4230Leu) c.6077C>A c.12675C>A (p.Phe4225Leu) c.12705C>A (p.Phe4235Leu) | gnomAD v4 |
19 | g.38565042C= | CA2335084604 | RYR1 | c.1118C= c.1100C= c.12708C= (p.Phe4236=) c.12693C= (p.Phe4231=) c.12690C= (p.Phe4230=) c.6077C= c.12675C= (p.Phe4225=) c.12705C= (p.Phe4235=) | |
19 | g.38565042C>G | CA405670972 | RYR1 | c.1118C>G c.1100C>G c.12708C>G (p.Phe4236Leu) c.12693C>G (p.Phe4231Leu) c.12690C>G (p.Phe4230Leu) c.6077C>G c.12675C>G (p.Phe4225Leu) c.12705C>G (p.Phe4235Leu) | gnomAD v4 |
19 | g.38565042C>T | CA059346 | RYR1 | c.1118C>T c.1100C>T c.12708C>T (p.Phe4236=) c.12693C>T (p.Phe4231=) c.12690C>T (p.Phe4230=) c.6077C>T c.12675C>T (p.Phe4225=) c.12705C>T (p.Phe4235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38565043T>A | CA405670975 | RYR1 | c.1119T>A c.1101T>A c.12709T>A (p.Cys4237Ser) c.12694T>A (p.Cys4232Ser) c.12691T>A (p.Cys4231Ser) c.6078T>A c.12676T>A (p.Cys4226Ser) c.12706T>A (p.Cys4236Ser) | |
19 | g.38565043T>C | CA405670974 | RYR1 | c.1119T>C c.1101T>C c.12709T>C (p.Cys4237Arg) c.12694T>C (p.Cys4232Arg) c.12691T>C (p.Cys4231Arg) c.6078T>C c.12676T>C (p.Cys4226Arg) c.12706T>C (p.Cys4236Arg) | gnomAD v4 |
19 | g.38565043T>G | CA405670973 | RYR1 | c.1119T>G c.1101T>G c.12709T>G (p.Cys4237Gly) c.12694T>G (p.Cys4232Gly) c.12691T>G (p.Cys4231Gly) c.6078T>G c.12676T>G (p.Cys4226Gly) c.12706T>G (p.Cys4236Gly) | |
19 | g.38565044G>A | CA405670976 | RYR1 | c.1120G>A c.1102G>A c.12710G>A (p.Cys4237Tyr) c.12695G>A (p.Cys4232Tyr) c.12692G>A (p.Cys4231Tyr) c.6079G>A c.12677G>A (p.Cys4226Tyr) c.12707G>A (p.Cys4236Tyr) | |
19 | g.38565044G>C | CA405670977 | RYR1 | c.1120G>C c.1102G>C c.12710G>C (p.Cys4237Ser) c.12695G>C (p.Cys4232Ser) c.12692G>C (p.Cys4231Ser) c.6079G>C c.12677G>C (p.Cys4226Ser) c.12707G>C (p.Cys4236Ser) | gnomAD v4 |
19 | g.38565044G>T | CA405670978 | RYR1 | c.1120G>T c.1102G>T c.12710G>T (p.Cys4237Phe) c.12695G>T (p.Cys4232Phe) c.12692G>T (p.Cys4231Phe) c.6079G>T c.12677G>T (p.Cys4226Phe) c.12707G>T (p.Cys4236Phe) | gnomAD v4 |
19 | g.38565045C>A | CA405670979 | RYR1 | c.1121C>A c.1103C>A c.12711C>A (p.Cys4237Ter) c.12696C>A (p.Cys4232Ter) c.12693C>A (p.Cys4231Ter) c.6080C>A c.12678C>A (p.Cys4226Ter) c.12708C>A (p.Cys4236Ter) | gnomAD v4 |
19 | g.38565045C= | CA2335084605 | RYR1 | c.1121C= c.1103C= c.12711C= (p.Cys4237=) c.12696C= (p.Cys4232=) c.12693C= (p.Cys4231=) c.6080C= c.12678C= (p.Cys4226=) c.12708C= (p.Cys4236=) | |
19 | g.38565045C>G | CA405670980 | RYR1 | c.1121C>G c.1103C>G c.12711C>G (p.Cys4237Trp) c.12696C>G (p.Cys4232Trp) c.12693C>G (p.Cys4231Trp) c.6080C>G c.12678C>G (p.Cys4226Trp) c.12708C>G (p.Cys4236Trp) | |
19 | g.38565045C>T | CA080750 | RYR1 | c.1121C>T c.1103C>T c.12711C>T (p.Cys4237=) c.12696C>T (p.Cys4232=) c.12693C>T (p.Cys4231=) c.6080C>T c.12678C>T (p.Cys4226=) c.12708C>T (p.Cys4236=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565046G>A | CA405670981 | RYR1 | c.1122G>A c.1104G>A c.12712G>A (p.Glu4238Lys) c.12697G>A (p.Glu4233Lys) c.12694G>A (p.Glu4232Lys) c.6081G>A c.12679G>A (p.Glu4227Lys) c.12709G>A (p.Glu4237Lys) | gnomAD v4 |
19 | g.38565046G>C | CA405670982 | RYR1 | c.1122G>C c.1104G>C c.12712G>C (p.Glu4238Gln) c.12697G>C (p.Glu4233Gln) c.12694G>C (p.Glu4232Gln) c.6081G>C c.12679G>C (p.Glu4227Gln) c.12709G>C (p.Glu4237Gln) | |
19 | g.38565046G>T | CA405670983 | RYR1 | c.1122G>T c.1104G>T c.12712G>T (p.Glu4238Ter) c.12697G>T (p.Glu4233Ter) c.12694G>T (p.Glu4232Ter) c.6081G>T c.12679G>T (p.Glu4227Ter) c.12709G>T (p.Glu4237Ter) | gnomAD v4 |
19 | g.38565047A>C | CA405670984 | RYR1 | c.1123A>C c.1105A>C c.12713A>C (p.Glu4238Ala) c.12698A>C (p.Glu4233Ala) c.12695A>C (p.Glu4232Ala) c.6082A>C c.12680A>C (p.Glu4227Ala) c.12710A>C (p.Glu4237Ala) | |
19 | g.38565047A>G | CA405670985 | RYR1 | c.1123A>G c.1105A>G c.12713A>G (p.Glu4238Gly) c.12698A>G (p.Glu4233Gly) c.12695A>G (p.Glu4232Gly) c.6082A>G c.12680A>G (p.Glu4227Gly) c.12710A>G (p.Glu4237Gly) | |
19 | g.38565047A>T | CA405670986 | RYR1 | c.1123A>T c.1105A>T c.12713A>T (p.Glu4238Val) c.12698A>T (p.Glu4233Val) c.12695A>T (p.Glu4232Val) c.6082A>T c.12680A>T (p.Glu4227Val) c.12710A>T (p.Glu4237Val) | |
19 | g.38565048G>A | CA507355450 | RYR1 | c.1124G>A c.1106G>A c.12714G>A (p.Glu4238=) c.12699G>A (p.Glu4233=) c.12696G>A (p.Glu4232=) c.6083G>A c.12681G>A (p.Glu4227=) c.12711G>A (p.Glu4237=) | gnomAD v4 |
19 | g.38565048G>C | CA405670987 | RYR1 | c.1124G>C c.1106G>C c.12714G>C (p.Glu4238Asp) c.12699G>C (p.Glu4233Asp) c.12696G>C (p.Glu4232Asp) c.6083G>C c.12681G>C (p.Glu4227Asp) c.12711G>C (p.Glu4237Asp) | |
19 | g.38565048G>T | CA405670988 | RYR1 | c.1124G>T c.1106G>T c.12714G>T (p.Glu4238Asp) c.12699G>T (p.Glu4233Asp) c.12696G>T (p.Glu4232Asp) c.6083G>T c.12681G>T (p.Glu4227Asp) c.12711G>T (p.Glu4237Asp) | gnomAD v4 |
19 | g.38565049G>A | CA405670989 | RYR1 | c.1125G>A c.1107G>A c.12715G>A (p.Asp4239Asn) c.12700G>A (p.Asp4234Asn) c.12697G>A (p.Asp4233Asn) c.6084G>A c.12682G>A (p.Asp4228Asn) c.12712G>A (p.Asp4238Asn) | |
19 | g.38565049G>C | CA405670991 | RYR1 | c.1125G>C c.1107G>C c.12715G>C (p.Asp4239His) c.12700G>C (p.Asp4234His) c.12697G>C (p.Asp4233His) c.6084G>C c.12682G>C (p.Asp4228His) c.12712G>C (p.Asp4238His) | |
19 | g.38565049G>T | CA405670990 | RYR1 | c.1125G>T c.1107G>T c.12715G>T (p.Asp4239Tyr) c.12700G>T (p.Asp4234Tyr) c.12697G>T (p.Asp4233Tyr) c.6084G>T c.12682G>T (p.Asp4228Tyr) c.12712G>T (p.Asp4238Tyr) | gnomAD v4 |
19 | g.38565050A>C | CA405670992 | RYR1 | c.1126A>C c.1108A>C c.12716A>C (p.Asp4239Ala) c.12701A>C (p.Asp4234Ala) c.12698A>C (p.Asp4233Ala) c.6085A>C c.12683A>C (p.Asp4228Ala) c.12713A>C (p.Asp4238Ala) | |
19 | g.38565050A>G | CA405670993 | RYR1 | c.1126A>G c.1108A>G c.12716A>G (p.Asp4239Gly) c.12701A>G (p.Asp4234Gly) c.12698A>G (p.Asp4233Gly) c.6085A>G c.12683A>G (p.Asp4228Gly) c.12713A>G (p.Asp4238Gly) | gnomAD v4 |
19 | g.38565050A>T | CA405670994 | RYR1 | c.1126A>T c.1108A>T c.12716A>T (p.Asp4239Val) c.12701A>T (p.Asp4234Val) c.12698A>T (p.Asp4233Val) c.6085A>T c.12683A>T (p.Asp4228Val) c.12713A>T (p.Asp4238Val) | |
19 | g.38565051C>A | CA405670995 | RYR1 | c.1127C>A c.1109C>A c.12717C>A (p.Asp4239Glu) c.12702C>A (p.Asp4234Glu) c.12699C>A (p.Asp4233Glu) c.6086C>A c.12684C>A (p.Asp4228Glu) c.12714C>A (p.Asp4238Glu) | gnomAD v4 |
19 | g.38565051C>G | CA405670996 | RYR1 | c.1127C>G c.1109C>G c.12717C>G (p.Asp4239Glu) c.12702C>G (p.Asp4234Glu) c.12699C>G (p.Asp4233Glu) c.6086C>G c.12684C>G (p.Asp4228Glu) c.12714C>G (p.Asp4238Glu) | |
19 | g.38565051C>T | CA507355452 | RYR1 | c.1127C>T c.1109C>T c.12717C>T (p.Asp4239=) c.12702C>T (p.Asp4234=) c.12699C>T (p.Asp4233=) c.6086C>T c.12684C>T (p.Asp4228=) c.12714C>T (p.Asp4238=) | |
19 | g.38565052A= | CA2335084606 | RYR1 | c.1128A= c.1110A= c.12718A= (p.Thr4240=) c.12703A= (p.Thr4235=) c.12700A= (p.Thr4234=) c.6087A= c.12685A= (p.Thr4229=) c.12715A= (p.Thr4239=) | |
19 | g.38565052A>C | CA405670997 | RYR1 | c.1128A>C c.1110A>C c.12718A>C (p.Thr4240Pro) c.12703A>C (p.Thr4235Pro) c.12700A>C (p.Thr4234Pro) c.6087A>C c.12685A>C (p.Thr4229Pro) c.12715A>C (p.Thr4239Pro) | |
19 | g.38565052A>G | CA405670998 | RYR1 | c.1128A>G c.1110A>G c.12718A>G (p.Thr4240Ala) c.12703A>G (p.Thr4235Ala) c.12700A>G (p.Thr4234Ala) c.6087A>G c.12685A>G (p.Thr4229Ala) c.12715A>G (p.Thr4239Ala) | ClinVar dbSNP |
19 | g.38565052A>T | CA405670999 | RYR1 | c.1128A>T c.1110A>T c.12718A>T (p.Thr4240Ser) c.12703A>T (p.Thr4235Ser) c.12700A>T (p.Thr4234Ser) c.6087A>T c.12685A>T (p.Thr4229Ser) c.12715A>T (p.Thr4239Ser) | gnomAD v4 |
19 | g.38565053C>A | CA405671000 | RYR1 | c.1129C>A c.1111C>A c.12719C>A (p.Thr4240Asn) c.12704C>A (p.Thr4235Asn) c.12701C>A (p.Thr4234Asn) c.6088C>A c.12686C>A (p.Thr4229Asn) c.12716C>A (p.Thr4239Asn) | gnomAD v4 |
19 | g.38565053C= | CA2335084607 | RYR1 | c.1129C= c.1111C= c.12719C= (p.Thr4240=) c.12704C= (p.Thr4235=) c.12701C= (p.Thr4234=) c.6088C= c.12686C= (p.Thr4229=) c.12716C= (p.Thr4239=) | |
19 | g.38565053C>G | CA059350 | RYR1 | c.1129C>G c.1111C>G c.12719C>G (p.Thr4240Ser) c.12704C>G (p.Thr4235Ser) c.12701C>G (p.Thr4234Ser) c.6088C>G c.12686C>G (p.Thr4229Ser) c.12716C>G (p.Thr4239Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38565053C>T | CA405671001 | RYR1 | c.1129C>T c.1111C>T c.12719C>T (p.Thr4240Ile) c.12704C>T (p.Thr4235Ile) c.12701C>T (p.Thr4234Ile) c.6088C>T c.12686C>T (p.Thr4229Ile) c.12716C>T (p.Thr4239Ile) | gnomAD v4 |
19 | g.38565054C>A | CA507355457 | RYR1 | c.1130C>A c.1112C>A c.12720C>A (p.Thr4240=) c.12705C>A (p.Thr4235=) c.12702C>A (p.Thr4234=) c.6089C>A c.12687C>A (p.Thr4229=) c.12717C>A (p.Thr4239=) | gnomAD v4 |
19 | g.38565054C= | CA2335084608 | RYR1 | c.1130C= c.1112C= c.12720C= (p.Thr4240=) c.12705C= (p.Thr4235=) c.12702C= (p.Thr4234=) c.6089C= c.12687C= (p.Thr4229=) c.12717C= (p.Thr4239=) | |
19 | g.38565054C>G | CA507355458 | RYR1 | c.1130C>G c.1112C>G c.12720C>G (p.Thr4240=) c.12705C>G (p.Thr4235=) c.12702C>G (p.Thr4234=) c.6089C>G c.12687C>G (p.Thr4229=) c.12717C>G (p.Thr4239=) | |
19 | g.38565054C>T | CA059354 | RYR1 | c.1130C>T c.1112C>T c.12720C>T (p.Thr4240=) c.12705C>T (p.Thr4235=) c.12702C>T (p.Thr4234=) c.6089C>T c.12687C>T (p.Thr4229=) c.12717C>T (p.Thr4239=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38565055A>C | CA405671003 | RYR1 | c.1131A>C c.1113A>C c.12721A>C (p.Ile4241Leu) c.12706A>C (p.Ile4236Leu) c.12703A>C (p.Ile4235Leu) c.6090A>C c.12688A>C (p.Ile4230Leu) c.12718A>C (p.Ile4240Leu) | |
19 | g.38565055A>G | CA405671002 | RYR1 | c.1131A>G c.1113A>G c.12721A>G (p.Ile4241Val) c.12706A>G (p.Ile4236Val) c.12703A>G (p.Ile4235Val) c.6090A>G c.12688A>G (p.Ile4230Val) c.12718A>G (p.Ile4240Val) | ClinVar gnomAD v4 |
19 | g.38565055A>T | CA405671004 | RYR1 | c.1131A>T c.1113A>T c.12721A>T (p.Ile4241Phe) c.12706A>T (p.Ile4236Phe) c.12703A>T (p.Ile4235Phe) c.6090A>T c.12688A>T (p.Ile4230Phe) c.12718A>T (p.Ile4240Phe) | |
19 | g.38565056T>A | CA405671005 | RYR1 | c.1132T>A c.1114T>A c.12722T>A (p.Ile4241Asn) c.12707T>A (p.Ile4236Asn) c.12704T>A (p.Ile4235Asn) c.6091T>A c.12689T>A (p.Ile4230Asn) c.12719T>A (p.Ile4240Asn) | gnomAD v4 |
19 | g.38565056T>C | CA405671006 | RYR1 | c.1132T>C c.1114T>C c.12722T>C (p.Ile4241Thr) c.12707T>C (p.Ile4236Thr) c.12704T>C (p.Ile4235Thr) c.6091T>C c.12689T>C (p.Ile4230Thr) c.12719T>C (p.Ile4240Thr) | gnomAD v4 |
19 | g.38565056T>G | CA405671007 | RYR1 | c.1132T>G c.1114T>G c.12722T>G (p.Ile4241Ser) c.12707T>G (p.Ile4236Ser) c.12704T>G (p.Ile4235Ser) c.6091T>G c.12689T>G (p.Ile4230Ser) c.12719T>G (p.Ile4240Ser) | |
19 | g.38565057C>A | CA507355465 | RYR1 | c.1133C>A c.1115C>A c.12723C>A (p.Ile4241=) c.12708C>A (p.Ile4236=) c.12705C>A (p.Ile4235=) c.6092C>A c.12690C>A (p.Ile4230=) c.12720C>A (p.Ile4240=) | gnomAD v4 |
19 | g.38565057C>G | CA405671008 | RYR1 | c.1133C>G c.1115C>G c.12723C>G (p.Ile4241Met) c.12708C>G (p.Ile4236Met) c.12705C>G (p.Ile4235Met) c.6092C>G c.12690C>G (p.Ile4230Met) c.12720C>G (p.Ile4240Met) | |
19 | g.38565057C>T | CA080752 | RYR1 | c.1133C>T c.1115C>T c.12723C>T (p.Ile4241=) c.12708C>T (p.Ile4236=) c.12705C>T (p.Ile4235=) c.6092C>T c.12690C>T (p.Ile4230=) c.12720C>T (p.Ile4240=) | gnomAD v4 |
19 | g.38565058T>A | CA405671009 | RYR1 | c.1134T>A c.1116T>A c.12724T>A (p.Phe4242Ile) c.12709T>A (p.Phe4237Ile) c.12706T>A (p.Phe4236Ile) c.6093T>A c.12691T>A (p.Phe4231Ile) c.12721T>A (p.Phe4241Ile) | |
19 | g.38565058T>C | CA405671010 | RYR1 | c.1134T>C c.1116T>C c.12724T>C (p.Phe4242Leu) c.12709T>C (p.Phe4237Leu) c.12706T>C (p.Phe4236Leu) c.6093T>C c.12691T>C (p.Phe4231Leu) c.12721T>C (p.Phe4241Leu) | |
19 | g.38565058T>G | CA405671011 | RYR1 | c.1134T>G c.1116T>G c.12724T>G (p.Phe4242Val) c.12709T>G (p.Phe4237Val) c.12706T>G (p.Phe4236Val) c.6093T>G c.12691T>G (p.Phe4231Val) c.12721T>G (p.Phe4241Val) | |
19 | g.38565059T>A | CA405671014 | RYR1 | c.1135T>A c.1117T>A c.12725T>A (p.Phe4242Tyr) c.12710T>A (p.Phe4237Tyr) c.12707T>A (p.Phe4236Tyr) c.6094T>A c.12692T>A (p.Phe4231Tyr) c.12722T>A (p.Phe4241Tyr) | |
19 | g.38565059T>C | CA405671012 | RYR1 | c.1135T>C c.1117T>C c.12725T>C (p.Phe4242Ser) c.12710T>C (p.Phe4237Ser) c.12707T>C (p.Phe4236Ser) c.6094T>C c.12692T>C (p.Phe4231Ser) c.12722T>C (p.Phe4241Ser) | gnomAD v4 |
19 | g.38565059T>G | CA405671013 | RYR1 | c.1135T>G c.1117T>G c.12725T>G (p.Phe4242Cys) c.12710T>G (p.Phe4237Cys) c.12707T>G (p.Phe4236Cys) c.6094T>G c.12692T>G (p.Phe4231Cys) c.12722T>G (p.Phe4241Cys) | |
19 | g.38565060C>A | CA405671015 | RYR1 | c.1136C>A c.1118C>A c.12726C>A (p.Phe4242Leu) c.12711C>A (p.Phe4237Leu) c.12708C>A (p.Phe4236Leu) c.6095C>A c.12693C>A (p.Phe4231Leu) c.12723C>A (p.Phe4241Leu) | gnomAD v4 |
19 | g.38565060C= | CA2335084609 | RYR1 | c.1136C= c.1118C= c.12726C= (p.Phe4242=) c.12711C= (p.Phe4237=) c.12708C= (p.Phe4236=) c.6095C= c.12693C= (p.Phe4231=) c.12723C= (p.Phe4241=) | |
19 | g.38565060C>G | CA405671016 | RYR1 | c.1136C>G c.1118C>G c.12726C>G (p.Phe4242Leu) c.12711C>G (p.Phe4237Leu) c.12708C>G (p.Phe4236Leu) c.6095C>G c.12693C>G (p.Phe4231Leu) c.12723C>G (p.Phe4241Leu) | gnomAD v4 |
19 | g.38565060C>T | CA507355473 | RYR1 | c.1136C>T c.1118C>T c.12726C>T (p.Phe4242=) c.12711C>T (p.Phe4237=) c.12708C>T (p.Phe4236=) c.6095C>T c.12693C>T (p.Phe4231=) c.12723C>T (p.Phe4241=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565061G>A | CA405671017 | RYR1 | c.1137G>A c.1119G>A c.12727G>A (p.Glu4243Lys) c.12712G>A (p.Glu4238Lys) c.12709G>A (p.Glu4237Lys) c.6096G>A c.12694G>A (p.Glu4232Lys) c.12724G>A (p.Glu4242Lys) | ClinVar dbSNP |
19 | g.38565061G>C | CA405671018 | RYR1 | c.1137G>C c.1119G>C c.12727G>C (p.Glu4243Gln) c.12712G>C (p.Glu4238Gln) c.12709G>C (p.Glu4237Gln) c.6096G>C c.12694G>C (p.Glu4232Gln) c.12724G>C (p.Glu4242Gln) | |
19 | g.38565061G= | CA2335084610 | RYR1 | c.1137G= c.1119G= c.12727G= (p.Glu4243=) c.12712G= (p.Glu4238=) c.12709G= (p.Glu4237=) c.6096G= c.12694G= (p.Glu4232=) c.12724G= (p.Glu4242=) | |
19 | g.38565061G>T | CA405671019 | RYR1 | c.1137G>T c.1119G>T c.12727G>T (p.Glu4243Ter) c.12712G>T (p.Glu4238Ter) c.12709G>T (p.Glu4237Ter) c.6096G>T c.12694G>T (p.Glu4232Ter) c.12724G>T (p.Glu4242Ter) | gnomAD v4 |
19 | g.38565062A>C | CA405671020 | RYR1 | c.1138A>C c.1120A>C c.12728A>C (p.Glu4243Ala) c.12713A>C (p.Glu4238Ala) c.12710A>C (p.Glu4237Ala) c.6097A>C c.12695A>C (p.Glu4232Ala) c.12725A>C (p.Glu4242Ala) | |
19 | g.38565062A>G | CA405671022 | RYR1 | c.1138A>G c.1120A>G c.12728A>G (p.Glu4243Gly) c.12713A>G (p.Glu4238Gly) c.12710A>G (p.Glu4237Gly) c.6097A>G c.12695A>G (p.Glu4232Gly) c.12725A>G (p.Glu4242Gly) | |
19 | g.38565062A>T | CA405671021 | RYR1 | c.1138A>T c.1120A>T c.12728A>T (p.Glu4243Val) c.12713A>T (p.Glu4238Val) c.12710A>T (p.Glu4237Val) c.6097A>T c.12695A>T (p.Glu4232Val) c.12725A>T (p.Glu4242Val) | |
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 |