| 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.38564983A>C | CA405670835 | RYR1 | c.1059A>C c.1041A>C c.12649A>C (p.Ile4217Leu) c.12634A>C (p.Ile4212Leu) c.12631A>C (p.Ile4211Leu) c.6018A>C c.12616A>C (p.Ile4206Leu) c.12646A>C (p.Ile4216Leu) | |
| 19 | g.38564983A>G | CA405670836 | RYR1 | c.1059A>G c.1041A>G c.12649A>G (p.Ile4217Val) c.12634A>G (p.Ile4212Val) c.12631A>G (p.Ile4211Val) c.6018A>G c.12616A>G (p.Ile4206Val) c.12646A>G (p.Ile4216Val) | gnomAD v4 |
| 19 | g.38564983A>T | CA405670837 | RYR1 | c.1059A>T c.1041A>T c.12649A>T (p.Ile4217Phe) c.12634A>T (p.Ile4212Phe) c.12631A>T (p.Ile4211Phe) c.6018A>T c.12616A>T (p.Ile4206Phe) c.12646A>T (p.Ile4216Phe) | gnomAD v4 |
| 19 | g.38564984T>A | CA405670838 | RYR1 | c.1060T>A c.1042T>A c.12650T>A (p.Ile4217Asn) c.12635T>A (p.Ile4212Asn) c.12632T>A (p.Ile4211Asn) c.6019T>A c.12617T>A (p.Ile4206Asn) c.12647T>A (p.Ile4216Asn) | gnomAD v4 |
| 19 | g.38564984T>C | CA405670840 | RYR1 | c.1060T>C c.1042T>C c.12650T>C (p.Ile4217Thr) c.12635T>C (p.Ile4212Thr) c.12632T>C (p.Ile4211Thr) c.6019T>C c.12617T>C (p.Ile4206Thr) c.12647T>C (p.Ile4216Thr) | |
| 19 | g.38564984T>G | CA405670839 | RYR1 | c.1060T>G c.1042T>G c.12650T>G (p.Ile4217Ser) c.12635T>G (p.Ile4212Ser) c.12632T>G (p.Ile4211Ser) c.6019T>G c.12617T>G (p.Ile4206Ser) c.12647T>G (p.Ile4216Ser) | |
| 19 | g.38564985C>A | CA507355388 | RYR1 | c.1061C>A c.1043C>A c.12651C>A (p.Ile4217=) c.12636C>A (p.Ile4212=) c.12633C>A (p.Ile4211=) c.6020C>A c.12618C>A (p.Ile4206=) c.12648C>A (p.Ile4216=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38564985C= | CA2335084582 | RYR1 | c.1061C= c.1043C= c.12651C= (p.Ile4217=) c.12636C= (p.Ile4212=) c.12633C= (p.Ile4211=) c.6020C= c.12618C= (p.Ile4206=) c.12648C= (p.Ile4216=) | |
| 19 | g.38564985C>G | CA405670841 | RYR1 | c.1061C>G c.1043C>G c.12651C>G (p.Ile4217Met) c.12636C>G (p.Ile4212Met) c.12633C>G (p.Ile4211Met) c.6020C>G c.12618C>G (p.Ile4206Met) c.12648C>G (p.Ile4216Met) | |
| 19 | g.38564985C>T | CA507355389 | RYR1 | c.1061C>T c.1043C>T c.12651C>T (p.Ile4217=) c.12636C>T (p.Ile4212=) c.12633C>T (p.Ile4211=) c.6020C>T c.12618C>T (p.Ile4206=) c.12648C>T (p.Ile4216=) | gnomAD v4 |
| 19 | g.38564986T>A | CA405670842 | RYR1 | c.1062T>A c.1044T>A c.12652T>A (p.Phe4218Ile) c.12637T>A (p.Phe4213Ile) c.12634T>A (p.Phe4212Ile) c.6021T>A c.12619T>A (p.Phe4207Ile) c.12649T>A (p.Phe4217Ile) | |
| 19 | g.38564986T>C | CA405670843 | RYR1 | c.1062T>C c.1044T>C c.12652T>C (p.Phe4218Leu) c.12637T>C (p.Phe4213Leu) c.12634T>C (p.Phe4212Leu) c.6021T>C c.12619T>C (p.Phe4207Leu) c.12649T>C (p.Phe4217Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38564986T>G | CA405670844 | RYR1 | c.1062T>G c.1044T>G c.12652T>G (p.Phe4218Val) c.12637T>G (p.Phe4213Val) c.12634T>G (p.Phe4212Val) c.6021T>G c.12619T>G (p.Phe4207Val) c.12649T>G (p.Phe4217Val) | |
| 19 | g.38564986T= | CA2335084583 | RYR1 | c.1062T= c.1044T= c.12652T= (p.Phe4218=) c.12637T= (p.Phe4213=) c.12634T= (p.Phe4212=) c.6021T= c.12619T= (p.Phe4207=) c.12649T= (p.Phe4217=) | |
| 19 | g.38564987T>A | CA405670845 | RYR1 | c.1063T>A c.1045T>A c.12653T>A (p.Phe4218Tyr) c.12638T>A (p.Phe4213Tyr) c.12635T>A (p.Phe4212Tyr) c.6022T>A c.12620T>A (p.Phe4207Tyr) c.12650T>A (p.Phe4217Tyr) | gnomAD v4 |
| 19 | g.38564987T>C | CA405670847 | RYR1 | c.1063T>C c.1045T>C c.12653T>C (p.Phe4218Ser) c.12638T>C (p.Phe4213Ser) c.12635T>C (p.Phe4212Ser) c.6022T>C c.12620T>C (p.Phe4207Ser) c.12650T>C (p.Phe4217Ser) | |
| 19 | g.38564987T>G | CA405670846 | RYR1 | c.1063T>G c.1045T>G c.12653T>G (p.Phe4218Cys) c.12638T>G (p.Phe4213Cys) c.12635T>G (p.Phe4212Cys) c.6022T>G c.12620T>G (p.Phe4207Cys) c.12650T>G (p.Phe4217Cys) | |
| 19 | g.38564988C>A | CA405670848 | RYR1 | c.1064C>A c.1046C>A c.12654C>A (p.Phe4218Leu) c.12639C>A (p.Phe4213Leu) c.12636C>A (p.Phe4212Leu) c.6023C>A c.12621C>A (p.Phe4207Leu) c.12651C>A (p.Phe4217Leu) | gnomAD v4 |
| 19 | g.38564988C= | CA2335084584 | RYR1 | c.1064C= c.1046C= c.12654C= (p.Phe4218=) c.12639C= (p.Phe4213=) c.12636C= (p.Phe4212=) c.6023C= c.12621C= (p.Phe4207=) c.12651C= (p.Phe4217=) | |
| 19 | g.38564988C>G | CA405670849 | RYR1 | c.1064C>G c.1046C>G c.12654C>G (p.Phe4218Leu) c.12639C>G (p.Phe4213Leu) c.12636C>G (p.Phe4212Leu) c.6023C>G c.12621C>G (p.Phe4207Leu) c.12651C>G (p.Phe4217Leu) | |
| 19 | g.38564988C>T | CA507355390 | RYR1 | c.1064C>T c.1046C>T c.12654C>T (p.Phe4218=) c.12639C>T (p.Phe4213=) c.12636C>T (p.Phe4212=) c.6023C>T c.12621C>T (p.Phe4207=) c.12651C>T (p.Phe4217=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38564989G>A | CA405670850 | RYR1 | c.1065G>A c.1047G>A c.12655G>A (p.Asp4219Asn) c.12640G>A (p.Asp4214Asn) c.12637G>A (p.Asp4213Asn) c.6024G>A c.12622G>A (p.Asp4208Asn) c.12652G>A (p.Asp4218Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38564989G>C | CA405670851 | RYR1 | c.1065G>C c.1047G>C c.12655G>C (p.Asp4219His) c.12640G>C (p.Asp4214His) c.12637G>C (p.Asp4213His) c.6024G>C c.12622G>C (p.Asp4208His) c.12652G>C (p.Asp4218His) | |
| 19 | g.38564989G= | CA2335084585 | RYR1 | c.1065G= c.1047G= c.12655G= (p.Asp4219=) c.12640G= (p.Asp4214=) c.12637G= (p.Asp4213=) c.6024G= c.12622G= (p.Asp4208=) c.12652G= (p.Asp4218=) | |
| 19 | g.38564989G>T | CA405670852 | RYR1 | c.1065G>T c.1047G>T c.12655G>T (p.Asp4219Tyr) c.12640G>T (p.Asp4214Tyr) c.12637G>T (p.Asp4213Tyr) c.6024G>T c.12622G>T (p.Asp4208Tyr) c.12652G>T (p.Asp4218Tyr) | gnomAD v4 |
| 19 | g.38564990A>C | CA405670853 | RYR1 | c.1066A>C c.1048A>C c.12656A>C (p.Asp4219Ala) c.12641A>C (p.Asp4214Ala) c.12638A>C (p.Asp4213Ala) c.6025A>C c.12623A>C (p.Asp4208Ala) c.12653A>C (p.Asp4218Ala) | |
| 19 | g.38564990A>G | CA405670854 | RYR1 | c.1066A>G c.1048A>G c.12656A>G (p.Asp4219Gly) c.12641A>G (p.Asp4214Gly) c.12638A>G (p.Asp4213Gly) c.6025A>G c.12623A>G (p.Asp4208Gly) c.12653A>G (p.Asp4218Gly) | gnomAD v4 |
| 19 | g.38564990A>T | CA405670855 | RYR1 | c.1066A>T c.1048A>T c.12656A>T (p.Asp4219Val) c.12641A>T (p.Asp4214Val) c.12638A>T (p.Asp4213Val) c.6025A>T c.12623A>T (p.Asp4208Val) c.12653A>T (p.Asp4218Val) | |
| 19 | g.38564991C>A | CA405670856 | RYR1 | c.1067C>A c.1049C>A c.12657C>A (p.Asp4219Glu) c.12642C>A (p.Asp4214Glu) c.12639C>A (p.Asp4213Glu) c.6026C>A c.12624C>A (p.Asp4208Glu) c.12654C>A (p.Asp4218Glu) | gnomAD v4 |
| 19 | g.38564991C= | CA2335084586 | RYR1 | c.1067C= c.1049C= c.12657C= (p.Asp4219=) c.12642C= (p.Asp4214=) c.12639C= (p.Asp4213=) c.6026C= c.12624C= (p.Asp4208=) c.12654C= (p.Asp4218=) | |
| 19 | g.38564991C>G | CA405670857 | RYR1 | c.1067C>G c.1049C>G c.12657C>G (p.Asp4219Glu) c.12642C>G (p.Asp4214Glu) c.12639C>G (p.Asp4213Glu) c.6026C>G c.12624C>G (p.Asp4208Glu) c.12654C>G (p.Asp4218Glu) | ClinVar gnomAD v4 |
| 19 | g.38564991C>T | CA059297 | RYR1 | c.1067C>T c.1049C>T c.12657C>T (p.Asp4219=) c.12642C>T (p.Asp4214=) c.12639C>T (p.Asp4213=) c.6026C>T c.12624C>T (p.Asp4208=) c.12654C>T (p.Asp4218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38564992G>A | CA405670858 | RYR1 | c.1068G>A c.1050G>A c.12658G>A (p.Val4220Met) c.12643G>A (p.Val4215Met) c.12640G>A (p.Val4214Met) c.6027G>A c.12625G>A (p.Val4209Met) c.12655G>A (p.Val4219Met) | gnomAD v4 |
| 19 | g.38564992G>C | CA405670860 | RYR1 | c.1068G>C c.1050G>C c.12658G>C (p.Val4220Leu) c.12643G>C (p.Val4215Leu) c.12640G>C (p.Val4214Leu) c.6027G>C c.12625G>C (p.Val4209Leu) c.12655G>C (p.Val4219Leu) | |
| 19 | g.38564992G>T | CA405670859 | RYR1 | c.1068G>T c.1050G>T c.12658G>T (p.Val4220Leu) c.12643G>T (p.Val4215Leu) c.12640G>T (p.Val4214Leu) c.6027G>T c.12625G>T (p.Val4209Leu) c.12655G>T (p.Val4219Leu) | gnomAD v4 |
| 19 | g.38564993_38565004del | CA2499225480 | RYR1 | c.1069_1080del c.1051_1062del c.12659_12670del (p.Val4220_Glu4223del) c.12644_12655del (p.Val4215_Glu4218del) c.12641_12652del (p.Val4214_Glu4217del) c.6028_6039del c.12626_12637del (p.Val4209_Glu4212del) c.12656_12667del (p.Val4219_Glu4222del) | ClinVar dbSNP |
| 19 | g.38564993T>A | CA405670861 | RYR1 | c.1069T>A c.1051T>A c.12659T>A (p.Val4220Glu) c.12644T>A (p.Val4215Glu) c.12641T>A (p.Val4214Glu) c.6028T>A c.12626T>A (p.Val4209Glu) c.12656T>A (p.Val4219Glu) | gnomAD v4 |
| 19 | g.38564993T>C | CA405670862 | RYR1 | c.1069T>C c.1051T>C c.12659T>C (p.Val4220Ala) c.12644T>C (p.Val4215Ala) c.12641T>C (p.Val4214Ala) c.6028T>C c.12626T>C (p.Val4209Ala) c.12656T>C (p.Val4219Ala) | gnomAD v4 |
| 19 | g.38564993T>G | CA405670863 | RYR1 | c.1069T>G c.1051T>G c.12659T>G (p.Val4220Gly) c.12644T>G (p.Val4215Gly) c.12641T>G (p.Val4214Gly) c.6028T>G c.12626T>G (p.Val4209Gly) c.12656T>G (p.Val4219Gly) | |
| 19 | g.38564994G>A | CA507355392 | RYR1 | c.1070G>A c.1052G>A c.12660G>A (p.Val4220=) c.12645G>A (p.Val4215=) c.12642G>A (p.Val4214=) c.6029G>A c.12627G>A (p.Val4209=) c.12657G>A (p.Val4219=) | gnomAD v4 |
| 19 | g.38564994G>C | CA507355393 | RYR1 | c.1070G>C c.1052G>C c.12660G>C (p.Val4220=) c.12645G>C (p.Val4215=) c.12642G>C (p.Val4214=) c.6029G>C c.12627G>C (p.Val4209=) c.12657G>C (p.Val4219=) | |
| 19 | g.38564994G>T | CA507355394 | RYR1 | c.1070G>T c.1052G>T c.12660G>T (p.Val4220=) c.12645G>T (p.Val4215=) c.12642G>T (p.Val4214=) c.6029G>T c.12627G>T (p.Val4209=) c.12657G>T (p.Val4219=) | ClinVar gnomAD v4 |
| 19 | g.38564995G>A | CA059304 | RYR1 | c.1071G>A c.1053G>A c.12661G>A (p.Val4221Met) c.12646G>A (p.Val4216Met) c.12643G>A (p.Val4215Met) c.6030G>A c.12628G>A (p.Val4210Met) c.12658G>A (p.Val4220Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38564995G>C | CA059310 | RYR1 | c.1071G>C c.1053G>C c.12661G>C (p.Val4221Leu) c.12646G>C (p.Val4216Leu) c.12643G>C (p.Val4215Leu) c.6030G>C c.12628G>C (p.Val4210Leu) c.12658G>C (p.Val4220Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38564995G= | CA2335084587 | RYR1 | c.1071G= c.1053G= c.12661G= (p.Val4221=) c.12646G= (p.Val4216=) c.12643G= (p.Val4215=) c.6030G= c.12628G= (p.Val4210=) c.12658G= (p.Val4220=) | |
| 19 | g.38564995G>T | CA405670864 | RYR1 | c.1071G>T c.1053G>T c.12661G>T (p.Val4221Leu) c.12646G>T (p.Val4216Leu) c.12643G>T (p.Val4215Leu) c.6030G>T c.12628G>T (p.Val4210Leu) c.12658G>T (p.Val4220Leu) | gnomAD v4 |
| 19 | g.38564996T>A | CA405670865 | RYR1 | c.1072T>A c.1054T>A c.12662T>A (p.Val4221Glu) c.12647T>A (p.Val4216Glu) c.12644T>A (p.Val4215Glu) c.6031T>A c.12629T>A (p.Val4210Glu) c.12659T>A (p.Val4220Glu) | |
| 19 | g.38564996T>C | CA405670866 | RYR1 | c.1072T>C c.1054T>C c.12662T>C (p.Val4221Ala) c.12647T>C (p.Val4216Ala) c.12644T>C (p.Val4215Ala) c.6031T>C c.12629T>C (p.Val4210Ala) c.12659T>C (p.Val4220Ala) | gnomAD v4 |
| 19 | g.38564996T>G | CA405670867 | RYR1 | c.1072T>G c.1054T>G c.12662T>G (p.Val4221Gly) c.12647T>G (p.Val4216Gly) c.12644T>G (p.Val4215Gly) c.6031T>G c.12629T>G (p.Val4210Gly) c.12659T>G (p.Val4220Gly) | |
| 19 | g.38564997G>A | CA507355398 | RYR1 | c.1073G>A c.1055G>A c.12663G>A (p.Val4221=) c.12648G>A (p.Val4216=) c.12645G>A (p.Val4215=) c.6032G>A c.12630G>A (p.Val4210=) c.12660G>A (p.Val4220=) | |
| 19 | g.38564997G>C | CA507355397 | RYR1 | c.1073G>C c.1055G>C c.12663G>C (p.Val4221=) c.12648G>C (p.Val4216=) c.12645G>C (p.Val4215=) c.6032G>C c.12630G>C (p.Val4210=) c.12660G>C (p.Val4220=) | |
| 19 | g.38564997G>T | CA507355396 | RYR1 | c.1073G>T c.1055G>T c.12663G>T (p.Val4221=) c.12648G>T (p.Val4216=) c.12645G>T (p.Val4215=) c.6032G>T c.12630G>T (p.Val4210=) c.12660G>T (p.Val4220=) | gnomAD v4 |
| 19 | g.38564998A>C | CA405670868 | RYR1 | c.1074A>C c.1056A>C c.12664A>C (p.Asn4222His) c.12649A>C (p.Asn4217His) c.12646A>C (p.Asn4216His) c.6033A>C c.12631A>C (p.Asn4211His) c.12661A>C (p.Asn4221His) | |
| 19 | g.38564998A>G | CA405670869 | RYR1 | c.1074A>G c.1056A>G c.12664A>G (p.Asn4222Asp) c.12649A>G (p.Asn4217Asp) c.12646A>G (p.Asn4216Asp) c.6033A>G c.12631A>G (p.Asn4211Asp) c.12661A>G (p.Asn4221Asp) | |
| 19 | g.38564998A>T | CA405670870 | RYR1 | c.1074A>T c.1056A>T c.12664A>T (p.Asn4222Tyr) c.12649A>T (p.Asn4217Tyr) c.12646A>T (p.Asn4216Tyr) c.6033A>T c.12631A>T (p.Asn4211Tyr) c.12661A>T (p.Asn4221Tyr) | gnomAD v4 |
| 19 | g.38564999A>C | CA405670873 | RYR1 | c.1075A>C c.1057A>C c.12665A>C (p.Asn4222Thr) c.12650A>C (p.Asn4217Thr) c.12647A>C (p.Asn4216Thr) c.6034A>C c.12632A>C (p.Asn4211Thr) c.12662A>C (p.Asn4221Thr) | gnomAD v4 |
| 19 | g.38564999A>G | CA405670871 | RYR1 | c.1075A>G c.1057A>G c.12665A>G (p.Asn4222Ser) c.12650A>G (p.Asn4217Ser) c.12647A>G (p.Asn4216Ser) c.6034A>G c.12632A>G (p.Asn4211Ser) c.12662A>G (p.Asn4221Ser) | |
| 19 | g.38564999A>T | CA405670872 | RYR1 | c.1075A>T c.1057A>T c.12665A>T (p.Asn4222Ile) c.12650A>T (p.Asn4217Ile) c.12647A>T (p.Asn4216Ile) c.6034A>T c.12632A>T (p.Asn4211Ile) c.12662A>T (p.Asn4221Ile) | |
| 19 | g.38565000C>A | CA405670874 | RYR1 | c.1076C>A c.1058C>A c.12666C>A (p.Asn4222Lys) c.12651C>A (p.Asn4217Lys) c.12648C>A (p.Asn4216Lys) c.6035C>A c.12633C>A (p.Asn4211Lys) c.12663C>A (p.Asn4221Lys) | gnomAD v4 |
| 19 | g.38565000C= | CA2335084588 | RYR1 | c.1076C= c.1058C= c.12666C= (p.Asn4222=) c.12651C= (p.Asn4217=) c.12648C= (p.Asn4216=) c.6035C= c.12633C= (p.Asn4211=) c.12663C= (p.Asn4221=) | |
| 19 | g.38565000C>G | CA405670875 | RYR1 | c.1076C>G c.1058C>G c.12666C>G (p.Asn4222Lys) c.12651C>G (p.Asn4217Lys) c.12648C>G (p.Asn4216Lys) c.6035C>G c.12633C>G (p.Asn4211Lys) c.12663C>G (p.Asn4221Lys) | |
| 19 | g.38565000C>T | CA059322 | RYR1 | c.1076C>T c.1058C>T c.12666C>T (p.Asn4222=) c.12651C>T (p.Asn4217=) c.12648C>T (p.Asn4216=) c.6035C>T c.12633C>T (p.Asn4211=) c.12663C>T (p.Asn4221=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38565001G>A | CA405670876 | RYR1 | c.1077G>A c.1059G>A c.12667G>A (p.Glu4223Lys) c.12652G>A (p.Glu4218Lys) c.12649G>A (p.Glu4217Lys) c.6036G>A c.12634G>A (p.Glu4212Lys) c.12664G>A (p.Glu4222Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38565001G>C | CA059326 | RYR1 | c.1077G>C c.1059G>C c.12667G>C (p.Glu4223Gln) c.12652G>C (p.Glu4218Gln) c.12649G>C (p.Glu4217Gln) c.6036G>C c.12634G>C (p.Glu4212Gln) c.12664G>C (p.Glu4222Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38565001G= | CA2335084589 | RYR1 | c.1077G= c.1059G= c.12667G= (p.Glu4223=) c.12652G= (p.Glu4218=) c.12649G= (p.Glu4217=) c.6036G= c.12634G= (p.Glu4212=) c.12664G= (p.Glu4222=) | |
| 19 | g.38565001G>T | CA405670877 | RYR1 | c.1077G>T c.1059G>T c.12667G>T (p.Glu4223Ter) c.12652G>T (p.Glu4218Ter) c.12649G>T (p.Glu4217Ter) c.6036G>T c.12634G>T (p.Glu4212Ter) c.12664G>T (p.Glu4222Ter) | gnomAD v4 |
| 19 | g.38565002A>C | CA405670878 | RYR1 | c.1078A>C c.1060A>C c.12668A>C (p.Glu4223Ala) c.12653A>C (p.Glu4218Ala) c.12650A>C (p.Glu4217Ala) c.6037A>C c.12635A>C (p.Glu4212Ala) c.12665A>C (p.Glu4222Ala) | |
| 19 | g.38565002A>G | CA405670879 | RYR1 | c.1078A>G c.1060A>G c.12668A>G (p.Glu4223Gly) c.12653A>G (p.Glu4218Gly) c.12650A>G (p.Glu4217Gly) c.6037A>G c.12635A>G (p.Glu4212Gly) c.12665A>G (p.Glu4222Gly) | gnomAD v4 |
| 19 | g.38565002A>T | CA405670880 | RYR1 | c.1078A>T c.1060A>T c.12668A>T (p.Glu4223Val) c.12653A>T (p.Glu4218Val) c.12650A>T (p.Glu4217Val) c.6037A>T c.12635A>T (p.Glu4212Val) c.12665A>T (p.Glu4222Val) | gnomAD v4 |
| 19 | g.38565003G>A | CA507355402 | RYR1 | c.1079G>A c.1061G>A c.12669G>A (p.Glu4223=) c.12654G>A (p.Glu4218=) c.12651G>A (p.Glu4217=) c.6038G>A c.12636G>A (p.Glu4212=) c.12666G>A (p.Glu4222=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565003G>C | CA405670881 | RYR1 | c.1079G>C c.1061G>C c.12669G>C (p.Glu4223Asp) c.12654G>C (p.Glu4218Asp) c.12651G>C (p.Glu4217Asp) c.6038G>C c.12636G>C (p.Glu4212Asp) c.12666G>C (p.Glu4222Asp) | |
| 19 | g.38565003G= | CA2335084590 | RYR1 | c.1079G= c.1061G= c.12669G= (p.Glu4223=) c.12654G= (p.Glu4218=) c.12651G= (p.Glu4217=) c.6038G= c.12636G= (p.Glu4212=) c.12666G= (p.Glu4222=) | |
| 19 | g.38565003G>T | CA405670882 | RYR1 | c.1079G>T c.1061G>T c.12669G>T (p.Glu4223Asp) c.12654G>T (p.Glu4218Asp) c.12651G>T (p.Glu4217Asp) c.6038G>T c.12636G>T (p.Glu4212Asp) c.12666G>T (p.Glu4222Asp) | gnomAD v4 |
| 19 | g.38565004G>A | CA405670884 | RYR1 | c.1080G>A c.1062G>A c.12670G>A (p.Gly4224Ser) c.12655G>A (p.Gly4219Ser) c.12652G>A (p.Gly4218Ser) c.6039G>A c.12637G>A (p.Gly4213Ser) c.12667G>A (p.Gly4223Ser) | dbSNP gnomAD v2 |
| 19 | g.38565004G>C | CA080747 | RYR1 | c.1080G>C c.1062G>C c.12670G>C (p.Gly4224Arg) c.12655G>C (p.Gly4219Arg) c.12652G>C (p.Gly4218Arg) c.6039G>C c.12637G>C (p.Gly4213Arg) c.12667G>C (p.Gly4223Arg) | |
| 19 | g.38565004G= | CA2335084591 | RYR1 | c.1080G= c.1062G= c.12670G= (p.Gly4224=) c.12655G= (p.Gly4219=) c.12652G= (p.Gly4218=) c.6039G= c.12637G= (p.Gly4213=) c.12667G= (p.Gly4223=) | |
| 19 | g.38565004G>T | CA405670883 | RYR1 | c.1080G>T c.1062G>T c.12670G>T (p.Gly4224Cys) c.12655G>T (p.Gly4219Cys) c.12652G>T (p.Gly4218Cys) c.6039G>T c.12637G>T (p.Gly4213Cys) c.12667G>T (p.Gly4223Cys) | |
| 19 | g.38565004_38565005insCCTAT | CA2512743611 | RYR1 | c.1080_1081insCCTAT c.1062_1063insCCTAT c.12670_12671insCCTAT (p.Gly4224AlafsTer13) c.12655_12656insCCTAT (p.Gly4219AlafsTer13) c.12652_12653insCCTAT (p.Gly4218AlafsTer13) c.6039_6040insCCTAT c.12637_12638insCCTAT (p.Gly4213AlafsTer13) c.12667_12668insCCTAT (p.Gly4223AlafsTer13) | |
| 19 | g.38565005G>A | CA405670885 | RYR1 | c.1081G>A c.1063G>A c.12671G>A (p.Gly4224Asp) c.12656G>A (p.Gly4219Asp) c.12653G>A (p.Gly4218Asp) c.6040G>A c.12638G>A (p.Gly4213Asp) c.12668G>A (p.Gly4223Asp) | gnomAD v4 |
| 19 | g.38565005G>C | CA405670887 | RYR1 | c.1081G>C c.1063G>C c.12671G>C (p.Gly4224Ala) c.12656G>C (p.Gly4219Ala) c.12653G>C (p.Gly4218Ala) c.6040G>C c.12638G>C (p.Gly4213Ala) c.12668G>C (p.Gly4223Ala) | |
| 19 | g.38565005G>T | CA405670886 | RYR1 | c.1081G>T c.1063G>T c.12671G>T (p.Gly4224Val) c.12656G>T (p.Gly4219Val) c.12653G>T (p.Gly4218Val) c.6040G>T c.12638G>T (p.Gly4213Val) c.12668G>T (p.Gly4223Val) | |
| 19 | g.38565006C>A | CA507355404 | RYR1 | c.1082C>A c.1064C>A c.12672C>A (p.Gly4224=) c.12657C>A (p.Gly4219=) c.12654C>A (p.Gly4218=) c.6041C>A c.12639C>A (p.Gly4213=) c.12669C>A (p.Gly4223=) | ClinVar gnomAD v4 |
| 19 | g.38565006C= | CA2335084592 | RYR1 | c.1082C= c.1064C= c.12672C= (p.Gly4224=) c.12657C= (p.Gly4219=) c.12654C= (p.Gly4218=) c.6041C= c.12639C= (p.Gly4213=) c.12669C= (p.Gly4223=) | |
| 19 | g.38565006C>G | CA507355405 | RYR1 | c.1082C>G c.1064C>G c.12672C>G (p.Gly4224=) c.12657C>G (p.Gly4219=) c.12654C>G (p.Gly4218=) c.6041C>G c.12639C>G (p.Gly4213=) c.12669C>G (p.Gly4223=) | |
| 19 | g.38565006C>T | CA059329 | RYR1 | c.1082C>T c.1064C>T c.12672C>T (p.Gly4224=) c.12657C>T (p.Gly4219=) c.12654C>T (p.Gly4218=) c.6041C>T c.12639C>T (p.Gly4213=) c.12669C>T (p.Gly4223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565007G>A | CA405670888 | RYR1 | c.1083G>A c.1065G>A c.12673G>A (p.Gly4225Ser) c.12658G>A (p.Gly4220Ser) c.12655G>A (p.Gly4219Ser) c.6042G>A c.12640G>A (p.Gly4214Ser) c.12670G>A (p.Gly4224Ser) | dbSNP gnomAD v4 |
| 19 | g.38565007G>C | CA405670889 | RYR1 | c.1083G>C c.1065G>C c.12673G>C (p.Gly4225Arg) c.12658G>C (p.Gly4220Arg) c.12655G>C (p.Gly4219Arg) c.6042G>C c.12640G>C (p.Gly4214Arg) c.12670G>C (p.Gly4224Arg) | |
| 19 | g.38565007G= | CA2335084593 | RYR1 | c.1083G= c.1065G= c.12673G= (p.Gly4225=) c.12658G= (p.Gly4220=) c.12655G= (p.Gly4219=) c.6042G= c.12640G= (p.Gly4214=) c.12670G= (p.Gly4224=) | |
| 19 | g.38565007G>T | CA405670890 | RYR1 | c.1083G>T c.1065G>T c.12673G>T (p.Gly4225Cys) c.12658G>T (p.Gly4220Cys) c.12655G>T (p.Gly4219Cys) c.6042G>T c.12640G>T (p.Gly4214Cys) c.12670G>T (p.Gly4224Cys) | gnomAD v4 |
| 19 | g.38565008G>A | CA405670891 | RYR1 | c.1084G>A c.1066G>A c.12674G>A (p.Gly4225Asp) c.12659G>A (p.Gly4220Asp) c.12656G>A (p.Gly4219Asp) c.6043G>A c.12641G>A (p.Gly4214Asp) c.12671G>A (p.Gly4224Asp) | gnomAD v4 |
| 19 | g.38565008G>C | CA405670892 | RYR1 | c.1084G>C c.1066G>C c.12674G>C (p.Gly4225Ala) c.12659G>C (p.Gly4220Ala) c.12656G>C (p.Gly4219Ala) c.6043G>C c.12641G>C (p.Gly4214Ala) c.12671G>C (p.Gly4224Ala) | |
| 19 | g.38565008G>T | CA405670893 | RYR1 | c.1084G>T c.1066G>T c.12674G>T (p.Gly4225Val) c.12659G>T (p.Gly4220Val) c.12656G>T (p.Gly4219Val) c.6043G>T c.12641G>T (p.Gly4214Val) c.12671G>T (p.Gly4224Val) | gnomAD v4 |
| 19 | g.38565009C>A | CA507355406 | RYR1 | c.1085C>A c.1067C>A c.12675C>A (p.Gly4225=) c.12660C>A (p.Gly4220=) c.12657C>A (p.Gly4219=) c.6044C>A c.12642C>A (p.Gly4214=) c.12672C>A (p.Gly4224=) | gnomAD v4 |
| 19 | g.38565009C= | CA2335084594 | RYR1 | c.1085C= c.1067C= c.12675C= (p.Gly4225=) c.12660C= (p.Gly4220=) c.12657C= (p.Gly4219=) c.6044C= c.12642C= (p.Gly4214=) c.12672C= (p.Gly4224=) | |
| 19 | g.38565009C>G | CA507355407 | RYR1 | c.1085C>G c.1067C>G c.12675C>G (p.Gly4225=) c.12660C>G (p.Gly4220=) c.12657C>G (p.Gly4219=) c.6044C>G c.12642C>G (p.Gly4214=) c.12672C>G (p.Gly4224=) | |
| 19 | g.38565009C>T | CA080748 | RYR1 | c.1085C>T c.1067C>T c.12675C>T (p.Gly4225=) c.12660C>T (p.Gly4220=) c.12657C>T (p.Gly4219=) c.6044C>T c.12642C>T (p.Gly4214=) c.12672C>T (p.Gly4224=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565010G>A | CA405670896 | RYR1 | c.1086G>A c.1068G>A c.12676G>A (p.Glu4226Lys) c.12661G>A (p.Glu4221Lys) c.12658G>A (p.Glu4220Lys) c.6045G>A c.12643G>A (p.Glu4215Lys) c.12673G>A (p.Glu4225Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38565010G>C | CA405670894 | RYR1 | c.1086G>C c.1068G>C c.12676G>C (p.Glu4226Gln) c.12661G>C (p.Glu4221Gln) c.12658G>C (p.Glu4220Gln) c.6045G>C c.12643G>C (p.Glu4215Gln) c.12673G>C (p.Glu4225Gln) | COSMIC |
| 19 | g.38565010G= | CA2335084595 | RYR1 | c.1086G= c.1068G= c.12676G= (p.Glu4226=) c.12661G= (p.Glu4221=) c.12658G= (p.Glu4220=) c.6045G= c.12643G= (p.Glu4215=) c.12673G= (p.Glu4225=) | |
| 19 | g.38565010G>T | CA405670895 | RYR1 | c.1086G>T c.1068G>T c.12676G>T (p.Glu4226Ter) c.12661G>T (p.Glu4221Ter) c.12658G>T (p.Glu4220Ter) c.6045G>T c.12643G>T (p.Glu4215Ter) c.12673G>T (p.Glu4225Ter) | gnomAD v4 |
| 19 | g.38565010_38565013del | CA2550222536 | RYR1 | c.1086_1089del c.1068_1071del c.12676_12679del (p.Glu4226LeufsTer8) c.12661_12664del (p.Glu4221LeufsTer8) c.12658_12661del (p.Glu4220LeufsTer8) c.6045_6048del c.12643_12646del (p.Glu4215LeufsTer8) c.12673_12676del (p.Glu4225LeufsTer8) | |
| 19 | g.38565011A>C | CA405670897 | RYR1 | c.1087A>C c.1069A>C c.12677A>C (p.Glu4226Ala) c.12662A>C (p.Glu4221Ala) c.12659A>C (p.Glu4220Ala) c.6046A>C c.12644A>C (p.Glu4215Ala) c.12674A>C (p.Glu4225Ala) | |
| 19 | g.38565011A>G | CA405670898 | RYR1 | c.1087A>G c.1069A>G c.12677A>G (p.Glu4226Gly) c.12662A>G (p.Glu4221Gly) c.12659A>G (p.Glu4220Gly) c.6046A>G c.12644A>G (p.Glu4215Gly) c.12674A>G (p.Glu4225Gly) | gnomAD v4 |
| 19 | g.38565011A>T | CA405670899 | RYR1 | c.1087A>T c.1069A>T c.12677A>T (p.Glu4226Val) c.12662A>T (p.Glu4221Val) c.12659A>T (p.Glu4220Val) c.6046A>T c.12644A>T (p.Glu4215Val) c.12674A>T (p.Glu4225Val) | |
| 19 | g.38565012G>A | CA507355410 | RYR1 | c.1088G>A c.1070G>A c.12678G>A (p.Glu4226=) c.12663G>A (p.Glu4221=) c.12660G>A (p.Glu4220=) c.6047G>A c.12645G>A (p.Glu4215=) c.12675G>A (p.Glu4225=) | |
| 19 | g.38565012G>C | CA405670900 | RYR1 | c.1088G>C c.1070G>C c.12678G>C (p.Glu4226Asp) c.12663G>C (p.Glu4221Asp) c.12660G>C (p.Glu4220Asp) c.6047G>C c.12645G>C (p.Glu4215Asp) c.12675G>C (p.Glu4225Asp) | |
| 19 | g.38565012G>T | CA405670901 | RYR1 | c.1088G>T c.1070G>T c.12678G>T (p.Glu4226Asp) c.12663G>T (p.Glu4221Asp) c.12660G>T (p.Glu4220Asp) c.6047G>T c.12645G>T (p.Glu4215Asp) c.12675G>T (p.Glu4225Asp) | gnomAD v4 |
| 19 | g.38565013G>A | CA405670902 | RYR1 | c.1089G>A c.1071G>A c.12679G>A (p.Ala4227Thr) c.12664G>A (p.Ala4222Thr) c.12661G>A (p.Ala4221Thr) c.6048G>A c.12646G>A (p.Ala4216Thr) c.12676G>A (p.Ala4226Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565013G>C | CA405670903 | RYR1 | c.1089G>C c.1071G>C c.12679G>C (p.Ala4227Pro) c.12664G>C (p.Ala4222Pro) c.12661G>C (p.Ala4221Pro) c.6048G>C c.12646G>C (p.Ala4216Pro) c.12676G>C (p.Ala4226Pro) | |
| 19 | g.38565013G= | CA2335084596 | RYR1 | c.1089G= c.1071G= c.12679G= (p.Ala4227=) c.12664G= (p.Ala4222=) c.12661G= (p.Ala4221=) c.6048G= c.12646G= (p.Ala4216=) c.12676G= (p.Ala4226=) | |
| 19 | g.38565013G>T | CA308109044 | RYR1 | c.1089G>T c.1071G>T c.12679G>T (p.Ala4227Ser) c.12664G>T (p.Ala4222Ser) c.12661G>T (p.Ala4221Ser) c.6048G>T c.12646G>T (p.Ala4216Ser) c.12676G>T (p.Ala4226Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565014C>A | CA405670904 | RYR1 | c.1090C>A c.1072C>A c.12680C>A (p.Ala4227Asp) c.12665C>A (p.Ala4222Asp) c.12662C>A (p.Ala4221Asp) c.6049C>A c.12647C>A (p.Ala4216Asp) c.12677C>A (p.Ala4226Asp) | gnomAD v4 |
| 19 | g.38565014C>G | CA405670905 | RYR1 | c.1090C>G c.1072C>G c.12680C>G (p.Ala4227Gly) c.12665C>G (p.Ala4222Gly) c.12662C>G (p.Ala4221Gly) c.6049C>G c.12647C>G (p.Ala4216Gly) c.12677C>G (p.Ala4226Gly) | |
| 19 | g.38565014C>T | CA405670906 | RYR1 | c.1090C>T c.1072C>T c.12680C>T (p.Ala4227Val) c.12665C>T (p.Ala4222Val) c.12662C>T (p.Ala4221Val) c.6049C>T c.12647C>T (p.Ala4216Val) c.12677C>T (p.Ala4226Val) | |
| 19 | g.38565015T>A | CA507355411 | RYR1 | c.1091T>A c.1073T>A c.12681T>A (p.Ala4227=) c.12666T>A (p.Ala4222=) c.12663T>A (p.Ala4221=) c.6050T>A c.12648T>A (p.Ala4216=) c.12678T>A (p.Ala4226=) | |
| 19 | g.38565015T>C | CA507355412 | RYR1 | c.1091T>C c.1073T>C c.12681T>C (p.Ala4227=) c.12666T>C (p.Ala4222=) c.12663T>C (p.Ala4221=) c.6050T>C c.12648T>C (p.Ala4216=) c.12678T>C (p.Ala4226=) | gnomAD v4 |
| 19 | g.38565015T>G | CA507355413 | RYR1 | c.1091T>G c.1073T>G c.12681T>G (p.Ala4227=) c.12666T>G (p.Ala4222=) c.12663T>G (p.Ala4221=) c.6050T>G c.12648T>G (p.Ala4216=) c.12678T>G (p.Ala4226=) | |
| 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.38565016G>A | CA405670907 | RYR1 | c.1092G>A c.1074G>A c.12682G>A (p.Glu4228Lys) c.12667G>A (p.Glu4223Lys) c.12664G>A (p.Glu4222Lys) c.6051G>A c.12649G>A (p.Glu4217Lys) c.12679G>A (p.Glu4227Lys) | gnomAD v4 |
| 19 | g.38565016G>C | CA405670908 | RYR1 | c.1092G>C c.1074G>C c.12682G>C (p.Glu4228Gln) c.12667G>C (p.Glu4223Gln) c.12664G>C (p.Glu4222Gln) c.6051G>C c.12649G>C (p.Glu4217Gln) c.12679G>C (p.Glu4227Gln) | |
| 19 | g.38565016G>T | CA405670909 | RYR1 | c.1092G>T c.1074G>T c.12682G>T (p.Glu4228Ter) c.12667G>T (p.Glu4223Ter) c.12664G>T (p.Glu4222Ter) c.6051G>T c.12649G>T (p.Glu4217Ter) c.12679G>T (p.Glu4227Ter) | gnomAD v4 |
| 19 | g.38565017A= | CA2335084597 | RYR1 | c.1093A= c.1075A= c.12683A= (p.Glu4228=) c.12668A= (p.Glu4223=) c.12665A= (p.Glu4222=) c.6052A= c.12650A= (p.Glu4217=) c.12680A= (p.Glu4227=) | |
| 19 | g.38565017A>C | CA405670910 | RYR1 | c.1093A>C c.1075A>C c.12683A>C (p.Glu4228Ala) c.12668A>C (p.Glu4223Ala) c.12665A>C (p.Glu4222Ala) c.6052A>C c.12650A>C (p.Glu4217Ala) c.12680A>C (p.Glu4227Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565017A>G | CA405670911 | RYR1 | c.1093A>G c.1075A>G c.12683A>G (p.Glu4228Gly) c.12668A>G (p.Glu4223Gly) c.12665A>G (p.Glu4222Gly) c.6052A>G c.12650A>G (p.Glu4217Gly) c.12680A>G (p.Glu4227Gly) | |
| 19 | g.38565017A>T | CA405670912 | RYR1 | c.1093A>T c.1075A>T c.12683A>T (p.Glu4228Val) c.12668A>T (p.Glu4223Val) c.12665A>T (p.Glu4222Val) c.6052A>T c.12650A>T (p.Glu4217Val) c.12680A>T (p.Glu4227Val) | |
| 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=) |