| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580445_38580462del | CA2695228677 | RYR1 | c.1523_1540del c.2920_2937del c.2892_2909del c.14587_14604del (p.Phe4863_Glu4868del) c.14572_14589del (p.Phe4858_Glu4863del) c.14569_14586del (p.Phe4857_Glu4862del) c.14554_14571del (p.Phe4852_Glu4857del) c.14584_14601del (p.Phe4862_Glu4867del) c.14500_14517del (p.Phe4834_Glu4839del) | |
| 19 | g.38580444_38580465delinsGTTCTACAACAAGAGCGAGGAT | CA2335092484 | RYR1 | c.1522_1543delinsGTTCTACAACAAGAGCGAGGAT c.2919_2940delinsGTTCTACAACAAGAGCGAGGAT c.2891_2912delinsGTTCTACAACAAGAGCGAGGAT c.14586_14607delinsGTTCTACAACAAGAGCGAGGAT (p.Lys4862=) c.14571_14592delinsGTTCTACAACAAGAGCGAGGAT (p.Lys4857=) c.14568_14589delinsGTTCTACAACAAGAGCGAGGAT (p.Lys4856=) c.14553_14574delinsGTTCTACAACAAGAGCGAGGAT (p.Lys4851=) c.14583_14604delinsGTTCTACAACAAGAGCGAGGAT (p.Lys4861=) c.14499_14520delinsGTTCTACAACAAGAGCGAGGAT (p.Lys4833=) | |
| 19 | g.38580445_38580463delinsTTCTACAACAAGAGCGAGG | CA2335092485 | RYR1 | c.1523_1541delinsTTCTACAACAAGAGCGAGG c.2920_2938delinsTTCTACAACAAGAGCGAGG c.2892_2910delinsTTCTACAACAAGAGCGAGG c.14587_14605delinsTTCTACAACAAGAGCGAGG (p.Phe4863=) c.14572_14590delinsTTCTACAACAAGAGCGAGG (p.Phe4858=) c.14569_14587delinsTTCTACAACAAGAGCGAGG (p.Phe4857=) c.14554_14572delinsTTCTACAACAAGAGCGAGG (p.Phe4852=) c.14584_14602delinsTTCTACAACAAGAGCGAGG (p.Phe4862=) c.14500_14518delinsTTCTACAACAAGAGCGAGG (p.Phe4834=) | |
| 19 | g.38580445_38580465del | CA024189 | RYR1 | c.1523_1543del c.2920_2940del c.2892_2912del c.14587_14607del (p.Phe4863_Asp4869del) c.14572_14592del (p.Phe4858_Asp4864del) c.14569_14589del (p.Phe4857_Asp4863del) c.14554_14574del (p.Phe4852_Asp4858del) c.14584_14604del (p.Phe4862_Asp4868del) c.14500_14520del (p.Phe4834_Asp4840del) | ClinVar dbSNP |
| 19 | g.38580446_38580449delinsTCTA | CA2335092486 | RYR1 | c.1524_1527delinsTCTA c.2921_2924delinsTCTA c.2893_2896delinsTCTA c.14588_14591delinsTCTA (p.Phe4863=) c.14573_14576delinsTCTA (p.Phe4858=) c.14570_14573delinsTCTA (p.Phe4857=) c.14555_14558delinsTCTA (p.Phe4852=) c.14585_14588delinsTCTA (p.Phe4862=) c.14501_14504delinsTCTA (p.Phe4834=) | |
| 19 | g.38580446_38580463del | CA024191 | RYR1 | c.1524_1541del c.2921_2938del c.2893_2910del c.14588_14605del (p.Phe4863_Asp4869delinsTyr) c.14573_14590del (p.Phe4858_Asp4864delinsTyr) c.14570_14587del (p.Phe4857_Asp4863delinsTyr) c.14555_14572del (p.Phe4852_Asp4858delinsTyr) c.14585_14602del (p.Phe4862_Asp4868delinsTyr) c.14501_14518del (p.Phe4834_Asp4840delinsTyr) | ClinVar dbSNP |
| 19 | g.38580448_38580450del | CA1139666435 | RYR1 | c.1526_1528del c.2923_2925del c.2895_2897del c.14590_14592del (p.Tyr4864del) c.14575_14577del (p.Tyr4859del) c.14572_14574del (p.Tyr4858del) c.14557_14559del (p.Tyr4853del) c.14587_14589del (p.Tyr4863del) c.14503_14505del (p.Tyr4835del) | ClinVar dbSNP |
| 19 | g.38580449A= | CA2335092488 | RYR1 | c.1527A= c.2924A= c.2896A= c.14591A= (p.Tyr4864=) c.14576A= (p.Tyr4859=) c.14573A= (p.Tyr4858=) c.14558A= (p.Tyr4853=) c.14588A= (p.Tyr4863=) c.14504A= (p.Tyr4835=) | |
| 19 | g.38580449A>C | CA405687854 | RYR1 | c.1527A>C c.2924A>C c.2896A>C c.14591A>C (p.Tyr4864Ser) c.14576A>C (p.Tyr4859Ser) c.14573A>C (p.Tyr4858Ser) c.14558A>C (p.Tyr4853Ser) c.14588A>C (p.Tyr4863Ser) c.14504A>C (p.Tyr4835Ser) | ClinVar dbSNP |
| 19 | g.38580449A>G | CA024196 | RYR1 | c.1527A>G c.2924A>G c.2896A>G c.14591A>G (p.Tyr4864Cys) c.14576A>G (p.Tyr4859Cys) c.14573A>G (p.Tyr4858Cys) c.14558A>G (p.Tyr4853Cys) c.14588A>G (p.Tyr4863Cys) c.14504A>G (p.Tyr4835Cys) | ClinVar dbSNP |
| 19 | g.38580449A>T | CA405687856 | RYR1 | c.1527A>T c.2924A>T c.2896A>T c.14591A>T (p.Tyr4864Phe) c.14576A>T (p.Tyr4859Phe) c.14573A>T (p.Tyr4858Phe) c.14558A>T (p.Tyr4853Phe) c.14588A>T (p.Tyr4863Phe) c.14504A>T (p.Tyr4835Phe) | |
| 19 | g.38580453_38580455del | CA2576827526 | RYR1 | c.1531_1533del c.2928_2930del c.2900_2902del c.14595_14597del (p.Asn4865del) c.14580_14582del (p.Asn4860del) c.14577_14579del (p.Asn4859del) c.14562_14564del (p.Asn4854del) c.14592_14594del (p.Asn4864del) c.14508_14510del (p.Asn4836del) | ClinVar dbSNP |
| 19 | g.38580450C>A | CA405687858 | RYR1 | c.1528C>A c.2925C>A c.2897C>A c.14592C>A (p.Tyr4864Ter) c.14577C>A (p.Tyr4859Ter) c.14574C>A (p.Tyr4858Ter) c.14559C>A (p.Tyr4853Ter) c.14589C>A (p.Tyr4863Ter) c.14505C>A (p.Tyr4835Ter) | |
| 19 | g.38580450C= | CA2335092489 | RYR1 | c.1528C= c.2925C= c.2897C= c.14592C= (p.Tyr4864=) c.14577C= (p.Tyr4859=) c.14574C= (p.Tyr4858=) c.14559C= (p.Tyr4853=) c.14589C= (p.Tyr4863=) c.14505C= (p.Tyr4835=) | |
| 19 | g.38580450C>G | CA405687859 | RYR1 | c.1528C>G c.2925C>G c.2897C>G c.14592C>G (p.Tyr4864Ter) c.14577C>G (p.Tyr4859Ter) c.14574C>G (p.Tyr4858Ter) c.14559C>G (p.Tyr4853Ter) c.14589C>G (p.Tyr4863Ter) c.14505C>G (p.Tyr4835Ter) | |
| 19 | g.38580450C>T | CA061408 | RYR1 | c.1528C>T c.2925C>T c.2897C>T c.14592C>T (p.Tyr4864=) c.14577C>T (p.Tyr4859=) c.14574C>T (p.Tyr4858=) c.14559C>T (p.Tyr4853=) c.14589C>T (p.Tyr4863=) c.14505C>T (p.Tyr4835=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580451A= | CA2335092490 | RYR1 | c.1529A= c.2926A= c.2898A= c.14593A= (p.Asn4865=) c.14578A= (p.Asn4860=) c.14575A= (p.Asn4859=) c.14560A= (p.Asn4854=) c.14590A= (p.Asn4864=) c.14506A= (p.Asn4836=) | |
| 19 | g.38580451A>C | CA405687862 | RYR1 | c.1529A>C c.2926A>C c.2898A>C c.14593A>C (p.Asn4865His) c.14578A>C (p.Asn4860His) c.14575A>C (p.Asn4859His) c.14560A>C (p.Asn4854His) c.14590A>C (p.Asn4864His) c.14506A>C (p.Asn4836His) | |
| 19 | g.38580451A>G | CA061412 | RYR1 | c.1529A>G c.2926A>G c.2898A>G c.14593A>G (p.Asn4865Asp) c.14578A>G (p.Asn4860Asp) c.14575A>G (p.Asn4859Asp) c.14560A>G (p.Asn4854Asp) c.14590A>G (p.Asn4864Asp) c.14506A>G (p.Asn4836Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580451A>T | CA405687865 | RYR1 | c.1529A>T c.2926A>T c.2898A>T c.14593A>T (p.Asn4865Tyr) c.14578A>T (p.Asn4860Tyr) c.14575A>T (p.Asn4859Tyr) c.14560A>T (p.Asn4854Tyr) c.14590A>T (p.Asn4864Tyr) c.14506A>T (p.Asn4836Tyr) | |
| 19 | g.38580452A= | CA2335092491 | RYR1 | c.1530A= c.2927A= c.2899A= c.14594A= (p.Asn4865=) c.14579A= (p.Asn4860=) c.14576A= (p.Asn4859=) c.14561A= (p.Asn4854=) c.14591A= (p.Asn4864=) c.14507A= (p.Asn4836=) | |
| 19 | g.38580452A>C | CA405687868 | RYR1 | c.1530A>C c.2927A>C c.2899A>C c.14594A>C (p.Asn4865Thr) c.14579A>C (p.Asn4860Thr) c.14576A>C (p.Asn4859Thr) c.14561A>C (p.Asn4854Thr) c.14591A>C (p.Asn4864Thr) c.14507A>C (p.Asn4836Thr) | |
| 19 | g.38580452A>G | CA405687870 | RYR1 | c.1530A>G c.2927A>G c.2899A>G c.14594A>G (p.Asn4865Ser) c.14579A>G (p.Asn4860Ser) c.14576A>G (p.Asn4859Ser) c.14561A>G (p.Asn4854Ser) c.14591A>G (p.Asn4864Ser) c.14507A>G (p.Asn4836Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580452A>T | CA405687872 | RYR1 | c.1530A>T c.2927A>T c.2899A>T c.14594A>T (p.Asn4865Ile) c.14579A>T (p.Asn4860Ile) c.14576A>T (p.Asn4859Ile) c.14561A>T (p.Asn4854Ile) c.14591A>T (p.Asn4864Ile) c.14507A>T (p.Asn4836Ile) | |
| 19 | g.38580453C>A | CA405687874 | RYR1 | c.1531C>A c.2928C>A c.2900C>A c.14595C>A (p.Asn4865Lys) c.14580C>A (p.Asn4860Lys) c.14577C>A (p.Asn4859Lys) c.14562C>A (p.Asn4854Lys) c.14592C>A (p.Asn4864Lys) c.14508C>A (p.Asn4836Lys) | |
| 19 | g.38580453C= | CA2335092492 | RYR1 | c.1531C= c.2928C= c.2900C= c.14595C= (p.Asn4865=) c.14580C= (p.Asn4860=) c.14577C= (p.Asn4859=) c.14562C= (p.Asn4854=) c.14592C= (p.Asn4864=) c.14508C= (p.Asn4836=) | |
| 19 | g.38580453C>G | CA405687875 | RYR1 | c.1531C>G c.2928C>G c.2900C>G c.14595C>G (p.Asn4865Lys) c.14580C>G (p.Asn4860Lys) c.14577C>G (p.Asn4859Lys) c.14562C>G (p.Asn4854Lys) c.14592C>G (p.Asn4864Lys) c.14508C>G (p.Asn4836Lys) | gnomAD v4 |
| 19 | g.38580453C>T | CA081264 | RYR1 | c.1531C>T c.2928C>T c.2900C>T c.14595C>T (p.Asn4865=) c.14580C>T (p.Asn4860=) c.14577C>T (p.Asn4859=) c.14562C>T (p.Asn4854=) c.14592C>T (p.Asn4864=) c.14508C>T (p.Asn4836=) | dbSNP gnomAD v2 |
| 19 | g.38580454A>C | CA405687876 | RYR1 | c.1532A>C c.2929A>C c.2901A>C c.14596A>C (p.Lys4866Gln) c.14581A>C (p.Lys4861Gln) c.14578A>C (p.Lys4860Gln) c.14563A>C (p.Lys4855Gln) c.14593A>C (p.Lys4865Gln) c.14509A>C (p.Lys4837Gln) | |
| 19 | g.38580454A>G | CA081265 | RYR1 | c.1532A>G c.2929A>G c.2901A>G c.14596A>G (p.Lys4866Glu) c.14581A>G (p.Lys4861Glu) c.14578A>G (p.Lys4860Glu) c.14563A>G (p.Lys4855Glu) c.14593A>G (p.Lys4865Glu) c.14509A>G (p.Lys4837Glu) | ClinVar |
| 19 | g.38580454A>T | CA405687877 | RYR1 | c.1532A>T c.2929A>T c.2901A>T c.14596A>T (p.Lys4866Ter) c.14581A>T (p.Lys4861Ter) c.14578A>T (p.Lys4860Ter) c.14563A>T (p.Lys4855Ter) c.14593A>T (p.Lys4865Ter) c.14509A>T (p.Lys4837Ter) | |
| 19 | g.38580454_38580455del | CA2584911261 | RYR1 | c.1532_1533del c.2929_2930del c.2901_2902del c.14596_14597del (p.Lys4866GlufsTer4) c.14581_14582del (p.Lys4861GlufsTer4) c.14578_14579del (p.Lys4860GlufsTer4) c.14563_14564del (p.Lys4855GlufsTer4) c.14593_14594del (p.Lys4865GlufsTer4) c.14509_14510del (p.Lys4837GlufsTer4) | gnomAD v4 |
| 19 | g.38580455A>C | CA405687880 | RYR1 | c.1533A>C c.2930A>C c.2902A>C c.14597A>C (p.Lys4866Thr) c.14582A>C (p.Lys4861Thr) c.14579A>C (p.Lys4860Thr) c.14564A>C (p.Lys4855Thr) c.14594A>C (p.Lys4865Thr) c.14510A>C (p.Lys4837Thr) | gnomAD v4 |
| 19 | g.38580455A>G | CA405687879 | RYR1 | c.1533A>G c.2930A>G c.2902A>G c.14597A>G (p.Lys4866Arg) c.14582A>G (p.Lys4861Arg) c.14579A>G (p.Lys4860Arg) c.14564A>G (p.Lys4855Arg) c.14594A>G (p.Lys4865Arg) c.14510A>G (p.Lys4837Arg) | |
| 19 | g.38580455A>T | CA405687878 | RYR1 | c.1533A>T c.2930A>T c.2902A>T c.14597A>T (p.Lys4866Met) c.14582A>T (p.Lys4861Met) c.14579A>T (p.Lys4860Met) c.14564A>T (p.Lys4855Met) c.14594A>T (p.Lys4865Met) c.14510A>T (p.Lys4837Met) | |
| 19 | g.38580456del | CA2736064207 | RYR1 | c.1534del c.2931del c.2903del c.14598del (p.Ser4867AlafsTer9) c.14583del (p.Ser4862AlafsTer9) c.14580del (p.Ser4861AlafsTer9) c.14565del (p.Ser4856AlafsTer9) c.14595del (p.Ser4866AlafsTer9) c.14511del (p.Ser4838AlafsTer9) | dbSNP |
| 19 | g.38580456G>A | CA507356131 | RYR1 | c.1534G>A c.2931G>A c.2903G>A c.14598G>A (p.Lys4866=) c.14583G>A (p.Lys4861=) c.14580G>A (p.Lys4860=) c.14565G>A (p.Lys4855=) c.14595G>A (p.Lys4865=) c.14511G>A (p.Lys4837=) | gnomAD v4 |
| 19 | g.38580456G>C | CA405687881 | RYR1 | c.1534G>C c.2931G>C c.2903G>C c.14598G>C (p.Lys4866Asn) c.14583G>C (p.Lys4861Asn) c.14580G>C (p.Lys4860Asn) c.14565G>C (p.Lys4855Asn) c.14595G>C (p.Lys4865Asn) c.14511G>C (p.Lys4837Asn) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580456G= | CA2335092493 | RYR1 | c.1534G= c.2931G= c.2903G= c.14598G= (p.Lys4866=) c.14583G= (p.Lys4861=) c.14580G= (p.Lys4860=) c.14565G= (p.Lys4855=) c.14595G= (p.Lys4865=) c.14511G= (p.Lys4837=) | |
| 19 | g.38580456G>T | CA405687882 | RYR1 | c.1534G>T c.2931G>T c.2903G>T c.14598G>T (p.Lys4866Asn) c.14583G>T (p.Lys4861Asn) c.14580G>T (p.Lys4860Asn) c.14565G>T (p.Lys4855Asn) c.14595G>T (p.Lys4865Asn) c.14511G>T (p.Lys4837Asn) | |
| 19 | g.38580457A= | CA2335092494 | RYR1 | c.1535A= c.2932A= c.2904A= c.14599A= (p.Ser4867=) c.14584A= (p.Ser4862=) c.14581A= (p.Ser4861=) c.14566A= (p.Ser4856=) c.14596A= (p.Ser4866=) c.14512A= (p.Ser4838=) | |
| 19 | g.38580457A>C | CA405687884 | RYR1 | c.1535A>C c.2932A>C c.2904A>C c.14599A>C (p.Ser4867Arg) c.14584A>C (p.Ser4862Arg) c.14581A>C (p.Ser4861Arg) c.14566A>C (p.Ser4856Arg) c.14596A>C (p.Ser4866Arg) c.14512A>C (p.Ser4838Arg) | |
| 19 | g.38580457A>G | CA405687889 | RYR1 | c.1535A>G c.2932A>G c.2904A>G c.14599A>G (p.Ser4867Gly) c.14584A>G (p.Ser4862Gly) c.14581A>G (p.Ser4861Gly) c.14566A>G (p.Ser4856Gly) c.14596A>G (p.Ser4866Gly) c.14512A>G (p.Ser4838Gly) | ClinVar gnomAD v4 |
| 19 | g.38580457A>T | CA061413 | RYR1 | c.1535A>T c.2932A>T c.2904A>T c.14599A>T (p.Ser4867Cys) c.14584A>T (p.Ser4862Cys) c.14581A>T (p.Ser4861Cys) c.14566A>T (p.Ser4856Cys) c.14596A>T (p.Ser4866Cys) c.14512A>T (p.Ser4838Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580458G>A | CA024198 | RYR1 | c.1536G>A c.2933G>A c.2905G>A c.14600G>A (p.Ser4867Asn) c.14585G>A (p.Ser4862Asn) c.14582G>A (p.Ser4861Asn) c.14567G>A (p.Ser4856Asn) c.14597G>A (p.Ser4866Asn) c.14513G>A (p.Ser4838Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38580458G>C | CA405687894 | RYR1 | c.1536G>C c.2933G>C c.2905G>C c.14600G>C (p.Ser4867Thr) c.14585G>C (p.Ser4862Thr) c.14582G>C (p.Ser4861Thr) c.14567G>C (p.Ser4856Thr) c.14597G>C (p.Ser4866Thr) c.14513G>C (p.Ser4838Thr) | |
| 19 | g.38580458G= | CA2335092495 | RYR1 | c.1536G= c.2933G= c.2905G= c.14600G= (p.Ser4867=) c.14585G= (p.Ser4862=) c.14582G= (p.Ser4861=) c.14567G= (p.Ser4856=) c.14597G= (p.Ser4866=) c.14513G= (p.Ser4838=) | |
| 19 | g.38580458G>T | CA405687896 | RYR1 | c.1536G>T c.2933G>T c.2905G>T c.14600G>T (p.Ser4867Ile) c.14585G>T (p.Ser4862Ile) c.14582G>T (p.Ser4861Ile) c.14567G>T (p.Ser4856Ile) c.14597G>T (p.Ser4866Ile) c.14513G>T (p.Ser4838Ile) | |
| 19 | g.38580459C>A | CA405687898 | RYR1 | c.1537C>A c.2934C>A c.2906C>A c.14601C>A (p.Ser4867Arg) c.14586C>A (p.Ser4862Arg) c.14583C>A (p.Ser4861Arg) c.14568C>A (p.Ser4856Arg) c.14598C>A (p.Ser4866Arg) c.14514C>A (p.Ser4838Arg) | |
| 19 | g.38580459C= | CA2335092496 | RYR1 | c.1537C= c.2934C= c.2906C= c.14601C= (p.Ser4867=) c.14586C= (p.Ser4862=) c.14583C= (p.Ser4861=) c.14568C= (p.Ser4856=) c.14598C= (p.Ser4866=) c.14514C= (p.Ser4838=) |