UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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_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.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=) | |
| 19 | g.38580459C>G | CA405687900 | RYR1 | c.1537C>G c.2934C>G c.2906C>G c.14601C>G (p.Ser4867Arg) c.14586C>G (p.Ser4862Arg) c.14583C>G (p.Ser4861Arg) c.14568C>G (p.Ser4856Arg) c.14598C>G (p.Ser4866Arg) c.14514C>G (p.Ser4838Arg) | |
| 19 | g.38580459C>T | CA061419 | RYR1 | c.1537C>T c.2934C>T c.2906C>T c.14601C>T (p.Ser4867=) c.14586C>T (p.Ser4862=) c.14583C>T (p.Ser4861=) c.14568C>T (p.Ser4856=) c.14598C>T (p.Ser4866=) c.14514C>T (p.Ser4838=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580460G>A | CA061423 | RYR1 | c.1538G>A c.2935G>A c.2907G>A c.14602G>A (p.Glu4868Lys) c.14587G>A (p.Glu4863Lys) c.14584G>A (p.Glu4862Lys) c.14569G>A (p.Glu4857Lys) c.14599G>A (p.Glu4867Lys) c.14515G>A (p.Glu4839Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580460G>C | CA405687906 | RYR1 | c.1538G>C c.2935G>C c.2907G>C c.14602G>C (p.Glu4868Gln) c.14587G>C (p.Glu4863Gln) c.14584G>C (p.Glu4862Gln) c.14569G>C (p.Glu4857Gln) c.14599G>C (p.Glu4867Gln) c.14515G>C (p.Glu4839Gln) | |
| 19 | g.38580460G= | CA2335092497 | RYR1 | c.1538G= c.2935G= c.2907G= c.14602G= (p.Glu4868=) c.14587G= (p.Glu4863=) c.14584G= (p.Glu4862=) c.14569G= (p.Glu4857=) c.14599G= (p.Glu4867=) c.14515G= (p.Glu4839=) | |
| 19 | g.38580460G>T | CA405687904 | RYR1 | c.1538G>T c.2935G>T c.2907G>T c.14602G>T (p.Glu4868Ter) c.14587G>T (p.Glu4863Ter) c.14584G>T (p.Glu4862Ter) c.14569G>T (p.Glu4857Ter) c.14599G>T (p.Glu4867Ter) c.14515G>T (p.Glu4839Ter) | |
| 19 | g.38580461A>C | CA405687910 | RYR1 | c.1539A>C c.2936A>C c.2908A>C c.14603A>C (p.Glu4868Ala) c.14588A>C (p.Glu4863Ala) c.14585A>C (p.Glu4862Ala) c.14570A>C (p.Glu4857Ala) c.14600A>C (p.Glu4867Ala) c.14516A>C (p.Glu4839Ala) | |
| 19 | g.38580461A>G | CA405687913 | RYR1 | c.1539A>G c.2936A>G c.2908A>G c.14603A>G (p.Glu4868Gly) c.14588A>G (p.Glu4863Gly) c.14585A>G (p.Glu4862Gly) c.14570A>G (p.Glu4857Gly) c.14600A>G (p.Glu4867Gly) c.14516A>G (p.Glu4839Gly) | |
| 19 | g.38580461A>T | CA405687912 | RYR1 | c.1539A>T c.2936A>T c.2908A>T c.14603A>T (p.Glu4868Val) c.14588A>T (p.Glu4863Val) c.14585A>T (p.Glu4862Val) c.14570A>T (p.Glu4857Val) c.14600A>T (p.Glu4867Val) c.14516A>T (p.Glu4839Val) | |
| 19 | g.38580462G>A | CA507356137 | RYR1 | c.1540G>A c.2937G>A c.2909G>A c.14604G>A (p.Glu4868=) c.14589G>A (p.Glu4863=) c.14586G>A (p.Glu4862=) c.14571G>A (p.Glu4857=) c.14601G>A (p.Glu4867=) c.14517G>A (p.Glu4839=) | COSMIC |
| 19 | g.38580462G>C | CA405687916 | RYR1 | c.1540G>C c.2937G>C c.2909G>C c.14604G>C (p.Glu4868Asp) c.14589G>C (p.Glu4863Asp) c.14586G>C (p.Glu4862Asp) c.14571G>C (p.Glu4857Asp) c.14601G>C (p.Glu4867Asp) c.14517G>C (p.Glu4839Asp) | |
| 19 | g.38580462G>T | CA405687917 | RYR1 | c.1540G>T c.2937G>T c.2909G>T c.14604G>T (p.Glu4868Asp) c.14589G>T (p.Glu4863Asp) c.14586G>T (p.Glu4862Asp) c.14571G>T (p.Glu4857Asp) c.14601G>T (p.Glu4867Asp) c.14517G>T (p.Glu4839Asp) | |
| 19 | g.38580463G>A | CA081268 | RYR1 | c.1541G>A c.2938G>A c.2910G>A c.14605G>A (p.Asp4869Asn) c.14590G>A (p.Asp4864Asn) c.14587G>A (p.Asp4863Asn) c.14572G>A (p.Asp4858Asn) c.14602G>A (p.Asp4868Asn) c.14518G>A (p.Asp4840Asn) | |
| 19 | g.38580463G>C | CA405687921 | RYR1 | c.1541G>C c.2938G>C c.2910G>C c.14605G>C (p.Asp4869His) c.14590G>C (p.Asp4864His) c.14587G>C (p.Asp4863His) c.14572G>C (p.Asp4858His) c.14602G>C (p.Asp4868His) c.14518G>C (p.Asp4840His) | |
| 19 | g.38580463G>T | CA405687923 | RYR1 | c.1541G>T c.2938G>T c.2910G>T c.14605G>T (p.Asp4869Tyr) c.14590G>T (p.Asp4864Tyr) c.14587G>T (p.Asp4863Tyr) c.14572G>T (p.Asp4858Tyr) c.14602G>T (p.Asp4868Tyr) c.14518G>T (p.Asp4840Tyr) | |
| 19 | g.38580464A= | CA2335092498 | RYR1 | c.1542A= c.2939A= c.2911A= c.14606A= (p.Asp4869=) c.14591A= (p.Asp4864=) c.14588A= (p.Asp4863=) c.14573A= (p.Asp4858=) c.14603A= (p.Asp4868=) c.14519A= (p.Asp4840=) | |
| 19 | g.38580464A>C | CA061427 | RYR1 | c.1542A>C c.2939A>C c.2911A>C c.14606A>C (p.Asp4869Ala) c.14591A>C (p.Asp4864Ala) c.14588A>C (p.Asp4863Ala) c.14573A>C (p.Asp4858Ala) c.14603A>C (p.Asp4868Ala) c.14519A>C (p.Asp4840Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580464A>G | CA405687928 | RYR1 | c.1542A>G c.2939A>G c.2911A>G c.14606A>G (p.Asp4869Gly) c.14591A>G (p.Asp4864Gly) c.14588A>G (p.Asp4863Gly) c.14573A>G (p.Asp4858Gly) c.14603A>G (p.Asp4868Gly) c.14519A>G (p.Asp4840Gly) | |
| 19 | g.38580464A>T | CA405687930 | RYR1 | c.1542A>T c.2939A>T c.2911A>T c.14606A>T (p.Asp4869Val) c.14591A>T (p.Asp4864Val) c.14588A>T (p.Asp4863Val) c.14573A>T (p.Asp4858Val) c.14603A>T (p.Asp4868Val) c.14519A>T (p.Asp4840Val) | |
| 19 | g.38580465T>A | CA405687931 | RYR1 | c.1543T>A c.2940T>A c.2912T>A c.14607T>A (p.Asp4869Glu) c.14592T>A (p.Asp4864Glu) c.14589T>A (p.Asp4863Glu) c.14574T>A (p.Asp4858Glu) c.14604T>A (p.Asp4868Glu) c.14520T>A (p.Asp4840Glu) | |
| 19 | g.38580465T>C | CA507356139 | RYR1 | c.1543T>C c.2940T>C c.2912T>C c.14607T>C (p.Asp4869=) c.14592T>C (p.Asp4864=) c.14589T>C (p.Asp4863=) c.14574T>C (p.Asp4858=) c.14604T>C (p.Asp4868=) c.14520T>C (p.Asp4840=) | |
| 19 | g.38580465T>G | CA405687933 | RYR1 | c.1543T>G c.2940T>G c.2912T>G c.14607T>G (p.Asp4869Glu) c.14592T>G (p.Asp4864Glu) c.14589T>G (p.Asp4863Glu) c.14574T>G (p.Asp4858Glu) c.14604T>G (p.Asp4868Glu) c.14520T>G (p.Asp4840Glu) | |
| 19 | g.38580466G>A | CA405687936 | RYR1 | c.1544G>A c.2941G>A c.2913G>A c.14608G>A (p.Glu4870Lys) c.14593G>A (p.Glu4865Lys) c.14590G>A (p.Glu4864Lys) c.14575G>A (p.Glu4859Lys) c.14605G>A (p.Glu4869Lys) c.14521G>A (p.Glu4841Lys) | |
| 19 | g.38580466G>C | CA405687937 | RYR1 | c.1544G>C c.2941G>C c.2913G>C c.14608G>C (p.Glu4870Gln) c.14593G>C (p.Glu4865Gln) c.14590G>C (p.Glu4864Gln) c.14575G>C (p.Glu4859Gln) c.14605G>C (p.Glu4869Gln) c.14521G>C (p.Glu4841Gln) | |
| 19 | g.38580466G>T | CA405687940 | RYR1 | c.1544G>T c.2941G>T c.2913G>T c.14608G>T (p.Glu4870Ter) c.14593G>T (p.Glu4865Ter) c.14590G>T (p.Glu4864Ter) c.14575G>T (p.Glu4859Ter) c.14605G>T (p.Glu4869Ter) c.14521G>T (p.Glu4841Ter) | |
| 19 | g.38580467A= | CA2335092499 | RYR1 | c.1545A= c.2942A= c.2914A= c.14609A= (p.Glu4870=) c.14594A= (p.Glu4865=) c.14591A= (p.Glu4864=) c.14576A= (p.Glu4859=) c.14606A= (p.Glu4869=) c.14522A= (p.Glu4841=) | |
| 19 | g.38580467A>C | CA081269 | RYR1 | c.1545A>C c.2942A>C c.2914A>C c.14609A>C (p.Glu4870Ala) c.14594A>C (p.Glu4865Ala) c.14591A>C (p.Glu4864Ala) c.14576A>C (p.Glu4859Ala) c.14606A>C (p.Glu4869Ala) c.14522A>C (p.Glu4841Ala) | dbSNP |
| 19 | g.38580467A>G | CA405687944 | RYR1 | c.1545A>G c.2942A>G c.2914A>G c.14609A>G (p.Glu4870Gly) c.14594A>G (p.Glu4865Gly) c.14591A>G (p.Glu4864Gly) c.14576A>G (p.Glu4859Gly) c.14606A>G (p.Glu4869Gly) c.14522A>G (p.Glu4841Gly) | |
| 19 | g.38580467A>T | CA405687941 | RYR1 | c.1545A>T c.2942A>T c.2914A>T c.14609A>T (p.Glu4870Val) c.14594A>T (p.Glu4865Val) c.14591A>T (p.Glu4864Val) c.14576A>T (p.Glu4859Val) c.14606A>T (p.Glu4869Val) c.14522A>T (p.Glu4841Val) | |
| 19 | g.38580468G>A | CA507356141 | RYR1 | c.1546G>A c.2943G>A c.2915G>A c.14610G>A (p.Glu4870=) c.14595G>A (p.Glu4865=) c.14592G>A (p.Glu4864=) c.14577G>A (p.Glu4859=) c.14607G>A (p.Glu4869=) c.14523G>A (p.Glu4841=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580468G>C | CA405687946 | RYR1 | c.1546G>C c.2943G>C c.2915G>C c.14610G>C (p.Glu4870Asp) c.14595G>C (p.Glu4865Asp) c.14592G>C (p.Glu4864Asp) c.14577G>C (p.Glu4859Asp) c.14607G>C (p.Glu4869Asp) c.14523G>C (p.Glu4841Asp) | |
| 19 | g.38580468G= | CA2335092500 | RYR1 | c.1546G= c.2943G= c.2915G= c.14610G= (p.Glu4870=) c.14595G= (p.Glu4865=) c.14592G= (p.Glu4864=) c.14577G= (p.Glu4859=) c.14607G= (p.Glu4869=) c.14523G= (p.Glu4841=) | |
| 19 | g.38580468G>T | CA405687947 | RYR1 | c.1546G>T c.2943G>T c.2915G>T c.14610G>T (p.Glu4870Asp) c.14595G>T (p.Glu4865Asp) c.14592G>T (p.Glu4864Asp) c.14577G>T (p.Glu4859Asp) c.14607G>T (p.Glu4869Asp) c.14523G>T (p.Glu4841Asp) | |
| 19 | g.38580469G>A | CA405687948 | RYR1 | c.1547G>A c.2944G>A c.2916G>A c.14611G>A (p.Asp4871Asn) c.14596G>A (p.Asp4866Asn) c.14593G>A (p.Asp4865Asn) c.14578G>A (p.Asp4860Asn) c.14608G>A (p.Asp4870Asn) c.14524G>A (p.Asp4842Asn) | |
| 19 | g.38580469G>C | CA405687949 | RYR1 | c.1547G>C c.2944G>C c.2916G>C c.14611G>C (p.Asp4871His) c.14596G>C (p.Asp4866His) c.14593G>C (p.Asp4865His) c.14578G>C (p.Asp4860His) c.14608G>C (p.Asp4870His) c.14524G>C (p.Asp4842His) | |
| 19 | g.38580469G>T | CA405687950 | RYR1 | c.1547G>T c.2944G>T c.2916G>T c.14611G>T (p.Asp4871Tyr) c.14596G>T (p.Asp4866Tyr) c.14593G>T (p.Asp4865Tyr) c.14578G>T (p.Asp4860Tyr) c.14608G>T (p.Asp4870Tyr) c.14524G>T (p.Asp4842Tyr) | |
| 19 | g.38580470A= | CA2335092501 | RYR1 | c.1548A= c.2945A= c.2917A= c.14612A= (p.Asp4871=) c.14597A= (p.Asp4866=) c.14594A= (p.Asp4865=) c.14579A= (p.Asp4860=) c.14609A= (p.Asp4870=) c.14525A= (p.Asp4842=) | |
| 19 | g.38580470A>C | CA405687951 | RYR1 | c.1548A>C c.2945A>C c.2917A>C c.14612A>C (p.Asp4871Ala) c.14597A>C (p.Asp4866Ala) c.14594A>C (p.Asp4865Ala) c.14579A>C (p.Asp4860Ala) c.14609A>C (p.Asp4870Ala) c.14525A>C (p.Asp4842Ala) | |
| 19 | g.38580470A>G | CA405687952 | RYR1 | c.1548A>G c.2945A>G c.2917A>G c.14612A>G (p.Asp4871Gly) c.14597A>G (p.Asp4866Gly) c.14594A>G (p.Asp4865Gly) c.14579A>G (p.Asp4860Gly) c.14609A>G (p.Asp4870Gly) c.14525A>G (p.Asp4842Gly) | |
| 19 | g.38580470A>T | CA405687954 | RYR1 | c.1548A>T c.2945A>T c.2917A>T c.14612A>T (p.Asp4871Val) c.14597A>T (p.Asp4866Val) c.14594A>T (p.Asp4865Val) c.14579A>T (p.Asp4860Val) c.14609A>T (p.Asp4870Val) c.14525A>T (p.Asp4842Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580471T>A | CA405687957 | RYR1 | c.1549T>A c.2946T>A c.2918T>A c.14613T>A (p.Asp4871Glu) c.14598T>A (p.Asp4866Glu) c.14595T>A (p.Asp4865Glu) c.14580T>A (p.Asp4860Glu) c.14610T>A (p.Asp4870Glu) c.14526T>A (p.Asp4842Glu) | |
| 19 | g.38580471T>C | CA507356147 | RYR1 | c.1549T>C c.2946T>C c.2918T>C c.14613T>C (p.Asp4871=) c.14598T>C (p.Asp4866=) c.14595T>C (p.Asp4865=) c.14580T>C (p.Asp4860=) c.14610T>C (p.Asp4870=) c.14526T>C (p.Asp4842=) | |
| 19 | g.38580471T>G | CA405687959 | RYR1 | c.1549T>G c.2946T>G c.2918T>G c.14613T>G (p.Asp4871Glu) c.14598T>G (p.Asp4866Glu) c.14595T>G (p.Asp4865Glu) c.14580T>G (p.Asp4860Glu) c.14610T>G (p.Asp4870Glu) c.14526T>G (p.Asp4842Glu) | |
| 19 | g.38580474_38580479dup | CA16620841 | RYR1 | c.1552_1557dup c.2949_2954dup c.2921_2926dup c.14616_14621dup (p.Pro4873_Asp4874insGluPro) c.14601_14606dup (p.Pro4868_Asp4869insGluPro) c.14598_14603dup (p.Pro4867_Asp4868insGluPro) c.14583_14588dup (p.Pro4862_Asp4863insGluPro) c.14613_14618dup (p.Pro4872_Asp4873insGluPro) c.14529_14534dup (p.Pro4844_Asp4845insGluPro) | ClinVar dbSNP |
| 19 | g.38580472G>A | CA405687962 | RYR1 | c.1550G>A c.2947G>A c.2919G>A c.14614G>A (p.Glu4872Lys) c.14599G>A (p.Glu4867Lys) c.14596G>A (p.Glu4866Lys) c.14581G>A (p.Glu4861Lys) c.14611G>A (p.Glu4871Lys) c.14527G>A (p.Glu4843Lys) | |
| 19 | g.38580472G>C | CA405687965 | RYR1 | c.1550G>C c.2947G>C c.2919G>C c.14614G>C (p.Glu4872Gln) c.14599G>C (p.Glu4867Gln) c.14596G>C (p.Glu4866Gln) c.14581G>C (p.Glu4861Gln) c.14611G>C (p.Glu4871Gln) c.14527G>C (p.Glu4843Gln) | |
| 19 | g.38580472G>T | CA405687966 | RYR1 | c.1550G>T c.2947G>T c.2919G>T c.14614G>T (p.Glu4872Ter) c.14599G>T (p.Glu4867Ter) c.14596G>T (p.Glu4866Ter) c.14581G>T (p.Glu4861Ter) c.14611G>T (p.Glu4871Ter) c.14527G>T (p.Glu4843Ter) | |
| 19 | g.38580472dup | CA2584911298 | RYR1 | c.1550dup c.2947dup c.2919dup c.14614dup (p.Glu4872GlyfsTer3) c.14599dup (p.Glu4867GlyfsTer3) c.14596dup (p.Glu4866GlyfsTer3) c.14581dup (p.Glu4861GlyfsTer3) c.14611dup (p.Glu4871GlyfsTer3) c.14527dup (p.Glu4843GlyfsTer3) | gnomAD v4 |
| 19 | g.38580473A>C | CA405687973 | RYR1 | c.1551A>C c.2948A>C c.2920A>C c.14615A>C (p.Glu4872Ala) c.14600A>C (p.Glu4867Ala) c.14597A>C (p.Glu4866Ala) c.14582A>C (p.Glu4861Ala) c.14612A>C (p.Glu4871Ala) c.14528A>C (p.Glu4843Ala) | |
| 19 | g.38580473A>G | CA405687977 | RYR1 | c.1551A>G c.2948A>G c.2920A>G c.14615A>G (p.Glu4872Gly) c.14600A>G (p.Glu4867Gly) c.14597A>G (p.Glu4866Gly) c.14582A>G (p.Glu4861Gly) c.14612A>G (p.Glu4871Gly) c.14528A>G (p.Glu4843Gly) | |
| 19 | g.38580473A>T | CA405687969 | RYR1 | c.1551A>T c.2948A>T c.2920A>T c.14615A>T (p.Glu4872Val) c.14600A>T (p.Glu4867Val) c.14597A>T (p.Glu4866Val) c.14582A>T (p.Glu4861Val) c.14612A>T (p.Glu4871Val) c.14528A>T (p.Glu4843Val) | |
| 19 | g.38580474A>C | CA405687978 | RYR1 | c.1552A>C c.2949A>C c.2921A>C c.14616A>C (p.Glu4872Asp) c.14601A>C (p.Glu4867Asp) c.14598A>C (p.Glu4866Asp) c.14583A>C (p.Glu4861Asp) c.14613A>C (p.Glu4871Asp) c.14529A>C (p.Glu4843Asp) | |
| 19 | g.38580474A>G | CA507356149 | RYR1 | c.1552A>G c.2949A>G c.2921A>G c.14616A>G (p.Glu4872=) c.14601A>G (p.Glu4867=) c.14598A>G (p.Glu4866=) c.14583A>G (p.Glu4861=) c.14613A>G (p.Glu4871=) c.14529A>G (p.Glu4843=) | |
| 19 | g.38580474A>T | CA405687980 | RYR1 | c.1552A>T c.2949A>T c.2921A>T c.14616A>T (p.Glu4872Asp) c.14601A>T (p.Glu4867Asp) c.14598A>T (p.Glu4866Asp) c.14583A>T (p.Glu4861Asp) c.14613A>T (p.Glu4871Asp) c.14529A>T (p.Glu4843Asp) | |
| 19 | g.38580475C>A | CA405687984 | RYR1 | c.1553C>A c.2950C>A c.2922C>A c.14617C>A (p.Pro4873Thr) c.14602C>A (p.Pro4868Thr) c.14599C>A (p.Pro4867Thr) c.14584C>A (p.Pro4862Thr) c.14614C>A (p.Pro4872Thr) c.14530C>A (p.Pro4844Thr) | |
| 19 | g.38580475C= | CA2335092502 | RYR1 | c.1553C= c.2950C= c.2922C= c.14617C= (p.Pro4873=) c.14602C= (p.Pro4868=) c.14599C= (p.Pro4867=) c.14584C= (p.Pro4862=) c.14614C= (p.Pro4872=) c.14530C= (p.Pro4844=) | |
| 19 | g.38580475C>G | CA405687991 | RYR1 | c.1553C>G c.2950C>G c.2922C>G c.14617C>G (p.Pro4873Ala) c.14602C>G (p.Pro4868Ala) c.14599C>G (p.Pro4867Ala) c.14584C>G (p.Pro4862Ala) c.14614C>G (p.Pro4872Ala) c.14530C>G (p.Pro4844Ala) | |
| 19 | g.38580475C>T | CA405687992 | RYR1 | c.1553C>T c.2950C>T c.2922C>T c.14617C>T (p.Pro4873Ser) c.14602C>T (p.Pro4868Ser) c.14599C>T (p.Pro4867Ser) c.14584C>T (p.Pro4862Ser) c.14614C>T (p.Pro4872Ser) c.14530C>T (p.Pro4844Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580476C>A | CA405687997 | RYR1 | c.1554C>A c.2951C>A c.2923C>A c.14618C>A (p.Pro4873His) c.14603C>A (p.Pro4868His) c.14600C>A (p.Pro4867His) c.14585C>A (p.Pro4862His) c.14615C>A (p.Pro4872His) c.14531C>A (p.Pro4844His) | |
| 19 | g.38580476C= | CA2335092503 | RYR1 | c.1554C= c.2951C= c.2923C= c.14618C= (p.Pro4873=) c.14603C= (p.Pro4868=) c.14600C= (p.Pro4867=) c.14585C= (p.Pro4862=) c.14615C= (p.Pro4872=) c.14531C= (p.Pro4844=) | |
| 19 | g.38580476C>G | CA405687999 | RYR1 | c.1554C>G c.2951C>G c.2923C>G c.14618C>G (p.Pro4873Arg) c.14603C>G (p.Pro4868Arg) c.14600C>G (p.Pro4867Arg) c.14585C>G (p.Pro4862Arg) c.14615C>G (p.Pro4872Arg) c.14531C>G (p.Pro4844Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580476C>T | CA405688000 | RYR1 | c.1554C>T c.2951C>T c.2923C>T c.14618C>T (p.Pro4873Leu) c.14603C>T (p.Pro4868Leu) c.14600C>T (p.Pro4867Leu) c.14585C>T (p.Pro4862Leu) c.14615C>T (p.Pro4872Leu) c.14531C>T (p.Pro4844Leu) | |
| 19 | g.38580477T>A | CA507356151 | RYR1 | c.1555T>A c.2952T>A c.2924T>A c.14619T>A (p.Pro4873=) c.14604T>A (p.Pro4868=) c.14601T>A (p.Pro4867=) c.14586T>A (p.Pro4862=) c.14616T>A (p.Pro4872=) c.14532T>A (p.Pro4844=) | |
| 19 | g.38580477T>C | CA507356152 | RYR1 | c.1555T>C c.2952T>C c.2924T>C c.14619T>C (p.Pro4873=) c.14604T>C (p.Pro4868=) c.14601T>C (p.Pro4867=) c.14586T>C (p.Pro4862=) c.14616T>C (p.Pro4872=) c.14532T>C (p.Pro4844=) | |
| 19 | g.38580477T>G | CA507356153 | RYR1 | c.1555T>G c.2952T>G c.2924T>G c.14619T>G (p.Pro4873=) c.14604T>G (p.Pro4868=) c.14601T>G (p.Pro4867=) c.14586T>G (p.Pro4862=) c.14616T>G (p.Pro4872=) c.14532T>G (p.Pro4844=) | dbSNP |
| 19 | g.38580477T= | CA2335092504 | RYR1 | c.1555T= c.2952T= c.2924T= c.14619T= (p.Pro4873=) c.14604T= (p.Pro4868=) c.14601T= (p.Pro4867=) c.14586T= (p.Pro4862=) c.14616T= (p.Pro4872=) c.14532T= (p.Pro4844=) | |
| 19 | g.38580478G>A | CA061432 | RYR1 | c.1556G>A c.2953G>A c.2925G>A c.14620G>A (p.Asp4874Asn) c.14605G>A (p.Asp4869Asn) c.14602G>A (p.Asp4868Asn) c.14587G>A (p.Asp4863Asn) c.14617G>A (p.Asp4873Asn) c.14533G>A (p.Asp4845Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580478G>C | CA061435 | RYR1 | c.1556G>C c.2953G>C c.2925G>C c.14620G>C (p.Asp4874His) c.14605G>C (p.Asp4869His) c.14602G>C (p.Asp4868His) c.14587G>C (p.Asp4863His) c.14617G>C (p.Asp4873His) c.14533G>C (p.Asp4845His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580478G= | CA2335092505 | RYR1 | c.1556G= c.2953G= c.2925G= c.14620G= (p.Asp4874=) c.14605G= (p.Asp4869=) c.14602G= (p.Asp4868=) c.14587G= (p.Asp4863=) c.14617G= (p.Asp4873=) c.14533G= (p.Asp4845=) | |
| 19 | g.38580478G>T | CA405688007 | RYR1 | c.1556G>T c.2953G>T c.2925G>T c.14620G>T (p.Asp4874Tyr) c.14605G>T (p.Asp4869Tyr) c.14602G>T (p.Asp4868Tyr) c.14587G>T (p.Asp4863Tyr) c.14617G>T (p.Asp4873Tyr) c.14533G>T (p.Asp4845Tyr) | |
| 19 | g.38580479A>C | CA405688016 | RYR1 | c.1557A>C c.2954A>C c.2926A>C c.14621A>C (p.Asp4874Ala) c.14606A>C (p.Asp4869Ala) c.14603A>C (p.Asp4868Ala) c.14588A>C (p.Asp4863Ala) c.14618A>C (p.Asp4873Ala) c.14534A>C (p.Asp4845Ala) | |
| 19 | g.38580479A>G | CA405688012 | RYR1 | c.1557A>G c.2954A>G c.2926A>G c.14621A>G (p.Asp4874Gly) c.14606A>G (p.Asp4869Gly) c.14603A>G (p.Asp4868Gly) c.14588A>G (p.Asp4863Gly) c.14618A>G (p.Asp4873Gly) c.14534A>G (p.Asp4845Gly) | |
| 19 | g.38580479A>T | CA405688010 | RYR1 | c.1557A>T c.2954A>T c.2926A>T c.14621A>T (p.Asp4874Val) c.14606A>T (p.Asp4869Val) c.14603A>T (p.Asp4868Val) c.14588A>T (p.Asp4863Val) c.14618A>T (p.Asp4873Val) c.14534A>T (p.Asp4845Val) | |
| 19 | g.38580480C>A | CA405688022 | RYR1 | c.1558C>A c.2955C>A c.2927C>A c.14622C>A (p.Asp4874Glu) c.14607C>A (p.Asp4869Glu) c.14604C>A (p.Asp4868Glu) c.14589C>A (p.Asp4863Glu) c.14619C>A (p.Asp4873Glu) c.14535C>A (p.Asp4845Glu) | |
| 19 | g.38580480C>G | CA405688025 | RYR1 | c.1558C>G c.2955C>G c.2927C>G c.14622C>G (p.Asp4874Glu) c.14607C>G (p.Asp4869Glu) c.14604C>G (p.Asp4868Glu) c.14589C>G (p.Asp4863Glu) c.14619C>G (p.Asp4873Glu) c.14535C>G (p.Asp4845Glu) | |
| 19 | g.38580480C>T | CA507356155 | RYR1 | c.1558C>T c.2955C>T c.2927C>T c.14622C>T (p.Asp4874=) c.14607C>T (p.Asp4869=) c.14604C>T (p.Asp4868=) c.14589C>T (p.Asp4863=) c.14619C>T (p.Asp4873=) c.14535C>T (p.Asp4845=) | |
| 19 | g.38580481A= | CA2335092506 | RYR1 | c.1559A= c.2956A= c.2928A= c.14623A= (p.Met4875=) c.14608A= (p.Met4870=) c.14605A= (p.Met4869=) c.14590A= (p.Met4864=) c.14620A= (p.Met4874=) c.14536A= (p.Met4846=) | |
| 19 | g.38580481A>C | CA405688027 | RYR1 | c.1559A>C c.2956A>C c.2928A>C c.14623A>C (p.Met4875Leu) c.14608A>C (p.Met4870Leu) c.14605A>C (p.Met4869Leu) c.14590A>C (p.Met4864Leu) c.14620A>C (p.Met4874Leu) c.14536A>C (p.Met4846Leu) | ClinVar dbSNP |
| 19 | g.38580481A>G | CA405688029 | RYR1 | c.1559A>G c.2956A>G c.2928A>G c.14623A>G (p.Met4875Val) c.14608A>G (p.Met4870Val) c.14605A>G (p.Met4869Val) c.14590A>G (p.Met4864Val) c.14620A>G (p.Met4874Val) c.14536A>G (p.Met4846Val) | dbSNP |
| 19 | g.38580481A>T | CA405688030 | RYR1 | c.1559A>T c.2956A>T c.2928A>T c.14623A>T (p.Met4875Leu) c.14608A>T (p.Met4870Leu) c.14605A>T (p.Met4869Leu) c.14590A>T (p.Met4864Leu) c.14620A>T (p.Met4874Leu) c.14536A>T (p.Met4846Leu) | |
| 19 | g.38580482T>A | CA405688033 | RYR1 | c.1560T>A c.2957T>A c.2929T>A c.14624T>A (p.Met4875Lys) c.14609T>A (p.Met4870Lys) c.14606T>A (p.Met4869Lys) c.14591T>A (p.Met4864Lys) c.14621T>A (p.Met4874Lys) c.14537T>A (p.Met4846Lys) | ClinVar |
| 19 | g.38580482T>C | CA405688035 | RYR1 | c.1560T>C c.2957T>C c.2929T>C c.14624T>C (p.Met4875Thr) c.14609T>C (p.Met4870Thr) c.14606T>C (p.Met4869Thr) c.14591T>C (p.Met4864Thr) c.14621T>C (p.Met4874Thr) c.14537T>C (p.Met4846Thr) | |
| 19 | g.38580482T>G | CA405688037 | RYR1 | c.1560T>G c.2957T>G c.2929T>G c.14624T>G (p.Met4875Arg) c.14609T>G (p.Met4870Arg) c.14606T>G (p.Met4869Arg) c.14591T>G (p.Met4864Arg) c.14621T>G (p.Met4874Arg) c.14537T>G (p.Met4846Arg) | gnomAD v4 |
| 19 | g.38580483G>A | CA405688042 | RYR1 | c.1561G>A c.2958G>A c.2930G>A c.14625G>A (p.Met4875Ile) c.14610G>A (p.Met4870Ile) c.14607G>A (p.Met4869Ile) c.14592G>A (p.Met4864Ile) c.14622G>A (p.Met4874Ile) c.14538G>A (p.Met4846Ile) | |
| 19 | g.38580483G>C | CA405688044 | RYR1 | c.1561G>C c.2958G>C c.2930G>C c.14625G>C (p.Met4875Ile) c.14610G>C (p.Met4870Ile) c.14607G>C (p.Met4869Ile) c.14592G>C (p.Met4864Ile) c.14622G>C (p.Met4874Ile) c.14538G>C (p.Met4846Ile) | |
| 19 | g.38580483G>T | CA405688046 | RYR1 | c.1561G>T c.2958G>T c.2930G>T c.14625G>T (p.Met4875Ile) c.14610G>T (p.Met4870Ile) c.14607G>T (p.Met4869Ile) c.14592G>T (p.Met4864Ile) c.14622G>T (p.Met4874Ile) c.14538G>T (p.Met4846Ile) | ClinVar |
| 19 | g.38580484A= | CA2335092507 | RYR1 | c.1562A= c.2959A= c.2931A= c.14626A= (p.Lys4876=) c.14611A= (p.Lys4871=) c.14608A= (p.Lys4870=) c.14593A= (p.Lys4865=) c.14623A= (p.Lys4875=) c.14539A= (p.Lys4847=) | |
| 19 | g.38580484A>C | CA405688054 | RYR1 | c.1562A>C c.2959A>C c.2931A>C c.14626A>C (p.Lys4876Gln) c.14611A>C (p.Lys4871Gln) c.14608A>C (p.Lys4870Gln) c.14593A>C (p.Lys4865Gln) c.14623A>C (p.Lys4875Gln) c.14539A>C (p.Lys4847Gln) | |
| 19 | g.38580484A>G | CA405688048 | RYR1 | c.1562A>G c.2959A>G c.2931A>G c.14626A>G (p.Lys4876Glu) c.14611A>G (p.Lys4871Glu) c.14608A>G (p.Lys4870Glu) c.14593A>G (p.Lys4865Glu) c.14623A>G (p.Lys4875Glu) c.14539A>G (p.Lys4847Glu) | ClinVar dbSNP |
| 19 | g.38580484A>T | CA405688047 | RYR1 | c.1562A>T c.2959A>T c.2931A>T c.14626A>T (p.Lys4876Ter) c.14611A>T (p.Lys4871Ter) c.14608A>T (p.Lys4870Ter) c.14593A>T (p.Lys4865Ter) c.14623A>T (p.Lys4875Ter) c.14539A>T (p.Lys4847Ter) | |
| 19 | g.38580485A= | CA2335092508 | RYR1 | c.1563A= c.2960A= c.2932A= c.14627A= (p.Lys4876=) c.14612A= (p.Lys4871=) c.14609A= (p.Lys4870=) c.14594A= (p.Lys4865=) c.14624A= (p.Lys4875=) c.14540A= (p.Lys4847=) | |
| 19 | g.38580485A>C | CA405688058 | RYR1 | c.1563A>C c.2960A>C c.2932A>C c.14627A>C (p.Lys4876Thr) c.14612A>C (p.Lys4871Thr) c.14609A>C (p.Lys4870Thr) c.14594A>C (p.Lys4865Thr) c.14624A>C (p.Lys4875Thr) c.14540A>C (p.Lys4847Thr) | |
| 19 | g.38580485A>G | CA024200 | RYR1 | c.1563A>G c.2960A>G c.2932A>G c.14627A>G (p.Lys4876Arg) c.14612A>G (p.Lys4871Arg) c.14609A>G (p.Lys4870Arg) c.14594A>G (p.Lys4865Arg) c.14624A>G (p.Lys4875Arg) c.14540A>G (p.Lys4847Arg) | ClinVar dbSNP |
| 19 | g.38580485A>T | CA405688060 | RYR1 | c.1563A>T c.2960A>T c.2932A>T c.14627A>T (p.Lys4876Met) c.14612A>T (p.Lys4871Met) c.14609A>T (p.Lys4870Met) c.14594A>T (p.Lys4865Met) c.14624A>T (p.Lys4875Met) c.14540A>T (p.Lys4847Met) | |
| 19 | g.38580486G>A | CA507356166 | RYR1 | c.1564G>A c.2961G>A c.2933G>A c.14628G>A (p.Lys4876=) c.14613G>A (p.Lys4871=) c.14610G>A (p.Lys4870=) c.14595G>A (p.Lys4865=) c.14625G>A (p.Lys4875=) c.14541G>A (p.Lys4847=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38580486G>C | CA405688064 | RYR1 | c.1564G>C c.2961G>C c.2933G>C c.14628G>C (p.Lys4876Asn) c.14613G>C (p.Lys4871Asn) c.14610G>C (p.Lys4870Asn) c.14595G>C (p.Lys4865Asn) c.14625G>C (p.Lys4875Asn) c.14541G>C (p.Lys4847Asn) | ClinVar dbSNP |
| 19 | g.38580486G= | CA2335092509 | RYR1 | c.1564G= c.2961G= c.2933G= c.14628G= (p.Lys4876=) c.14613G= (p.Lys4871=) c.14610G= (p.Lys4870=) c.14595G= (p.Lys4865=) c.14625G= (p.Lys4875=) c.14541G= (p.Lys4847=) | |
| 19 | g.38580486G>T | CA405688067 | RYR1 | c.1564G>T c.2961G>T c.2933G>T c.14628G>T (p.Lys4876Asn) c.14613G>T (p.Lys4871Asn) c.14610G>T (p.Lys4870Asn) c.14595G>T (p.Lys4865Asn) c.14625G>T (p.Lys4875Asn) c.14541G>T (p.Lys4847Asn) | |
| 19 | g.38580487T>A | CA405688073 | RYR1 | c.1565T>A c.2962T>A c.2934T>A c.14629T>A (p.Cys4877Ser) c.14614T>A (p.Cys4872Ser) c.14611T>A (p.Cys4871Ser) c.14596T>A (p.Cys4866Ser) c.14626T>A (p.Cys4876Ser) c.14542T>A (p.Cys4848Ser) | |
| 19 | g.38580487T>C | CA405688075 | RYR1 | c.1565T>C c.2962T>C c.2934T>C c.14629T>C (p.Cys4877Arg) c.14614T>C (p.Cys4872Arg) c.14611T>C (p.Cys4871Arg) c.14596T>C (p.Cys4866Arg) c.14626T>C (p.Cys4876Arg) c.14542T>C (p.Cys4848Arg) | |
| 19 | g.38580487T>G | CA405688078 | RYR1 | c.1565T>G c.2962T>G c.2934T>G c.14629T>G (p.Cys4877Gly) c.14614T>G (p.Cys4872Gly) c.14611T>G (p.Cys4871Gly) c.14596T>G (p.Cys4866Gly) c.14626T>G (p.Cys4876Gly) c.14542T>G (p.Cys4848Gly) | |
| 19 | g.38580488G>A | CA405688080 | RYR1 | c.1566G>A c.2963G>A c.2935G>A c.14630G>A (p.Cys4877Tyr) c.14615G>A (p.Cys4872Tyr) c.14612G>A (p.Cys4871Tyr) c.14597G>A (p.Cys4866Tyr) c.14627G>A (p.Cys4876Tyr) c.14543G>A (p.Cys4848Tyr) | ClinVar |
| 19 | g.38580488G>C | CA405688082 | RYR1 | c.1566G>C c.2963G>C c.2935G>C c.14630G>C (p.Cys4877Ser) c.14615G>C (p.Cys4872Ser) c.14612G>C (p.Cys4871Ser) c.14597G>C (p.Cys4866Ser) c.14627G>C (p.Cys4876Ser) c.14543G>C (p.Cys4848Ser) | |
| 19 | g.38580488G>T | CA405688084 | RYR1 | c.1566G>T c.2963G>T c.2935G>T c.14630G>T (p.Cys4877Phe) c.14615G>T (p.Cys4872Phe) c.14612G>T (p.Cys4871Phe) c.14597G>T (p.Cys4866Phe) c.14627G>T (p.Cys4876Phe) c.14543G>T (p.Cys4848Phe) | |
| 19 | g.38580488_38580495del | CA2584911308 | RYR1 | c.1566_1573del c.2963_2970del c.2935_2942del c.14630_14637del (p.Cys4877TyrfsTer29) c.14615_14622del (p.Cys4872TyrfsTer29) c.14612_14619del (p.Cys4871TyrfsTer29) c.14597_14604del (p.Cys4866TyrfsTer29) c.14627_14634del (p.Cys4876TyrfsTer29) c.14543_14550del (p.Cys4848TyrfsTer29) | gnomAD v4 |
| 19 | g.38580489T>A | CA405688087 | RYR1 | c.1567T>A c.2964T>A c.2936T>A c.14631T>A (p.Cys4877Ter) c.14616T>A (p.Cys4872Ter) c.14613T>A (p.Cys4871Ter) c.14598T>A (p.Cys4866Ter) c.14628T>A (p.Cys4876Ter) c.14544T>A (p.Cys4848Ter) | |
| 19 | g.38580489T>C | CA507356175 | RYR1 | c.1567T>C c.2964T>C c.2936T>C c.14631T>C (p.Cys4877=) c.14616T>C (p.Cys4872=) c.14613T>C (p.Cys4871=) c.14598T>C (p.Cys4866=) c.14628T>C (p.Cys4876=) c.14544T>C (p.Cys4848=) | |
| 19 | g.38580489T>G | CA405688090 | RYR1 | c.1567T>G c.2964T>G c.2936T>G c.14631T>G (p.Cys4877Trp) c.14616T>G (p.Cys4872Trp) c.14613T>G (p.Cys4871Trp) c.14598T>G (p.Cys4866Trp) c.14628T>G (p.Cys4876Trp) c.14544T>G (p.Cys4848Trp) | |
| 19 | g.38580490G>A | CA405688092 | RYR1 | c.1568G>A c.2965G>A c.2937G>A c.14632G>A (p.Asp4878Asn) c.14617G>A (p.Asp4873Asn) c.14614G>A (p.Asp4872Asn) c.14599G>A (p.Asp4867Asn) c.14629G>A (p.Asp4877Asn) c.14545G>A (p.Asp4849Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580490G>C | CA405688093 | RYR1 | c.1568G>C c.2965G>C c.2937G>C c.14632G>C (p.Asp4878His) c.14617G>C (p.Asp4873His) c.14614G>C (p.Asp4872His) c.14599G>C (p.Asp4867His) c.14629G>C (p.Asp4877His) c.14545G>C (p.Asp4849His) | |
| 19 | g.38580490G= | CA2335092510 | RYR1 | c.1568G= c.2965G= c.2937G= c.14632G= (p.Asp4878=) c.14617G= (p.Asp4873=) c.14614G= (p.Asp4872=) c.14599G= (p.Asp4867=) c.14629G= (p.Asp4877=) c.14545G= (p.Asp4849=) | |
| 19 | g.38580490G>T | CA405688096 | RYR1 | c.1568G>T c.2965G>T c.2937G>T c.14632G>T (p.Asp4878Tyr) c.14617G>T (p.Asp4873Tyr) c.14614G>T (p.Asp4872Tyr) c.14599G>T (p.Asp4867Tyr) c.14629G>T (p.Asp4877Tyr) c.14545G>T (p.Asp4849Tyr) | |
| 19 | g.38580491A>C | CA405688100 | RYR1 | c.1569A>C c.2966A>C c.2938A>C c.14633A>C (p.Asp4878Ala) c.14618A>C (p.Asp4873Ala) c.14615A>C (p.Asp4872Ala) c.14600A>C (p.Asp4867Ala) c.14630A>C (p.Asp4877Ala) c.14546A>C (p.Asp4849Ala) | |
| 19 | g.38580491A>G | CA405688105 | RYR1 | c.1569A>G c.2966A>G c.2938A>G c.14633A>G (p.Asp4878Gly) c.14618A>G (p.Asp4873Gly) c.14615A>G (p.Asp4872Gly) c.14600A>G (p.Asp4867Gly) c.14630A>G (p.Asp4877Gly) c.14546A>G (p.Asp4849Gly) | |
| 19 | g.38580491A>T | CA405688104 | RYR1 | c.1569A>T c.2966A>T c.2938A>T c.14633A>T (p.Asp4878Val) c.14618A>T (p.Asp4873Val) c.14615A>T (p.Asp4872Val) c.14600A>T (p.Asp4867Val) c.14630A>T (p.Asp4877Val) c.14546A>T (p.Asp4849Val) | |
| 19 | g.38580492T>A | CA405688106 | RYR1 | c.1570T>A c.2967T>A c.2939T>A c.14634T>A (p.Asp4878Glu) c.14619T>A (p.Asp4873Glu) c.14616T>A (p.Asp4872Glu) c.14601T>A (p.Asp4867Glu) c.14631T>A (p.Asp4877Glu) c.14547T>A (p.Asp4849Glu) | |
| 19 | g.38580492T>C | CA507356178 | RYR1 | c.1570T>C c.2967T>C c.2939T>C c.14634T>C (p.Asp4878=) c.14619T>C (p.Asp4873=) c.14616T>C (p.Asp4872=) c.14601T>C (p.Asp4867=) c.14631T>C (p.Asp4877=) c.14547T>C (p.Asp4849=) | |
| 19 | g.38580492T>G | CA405688108 | RYR1 | c.1570T>G c.2967T>G c.2939T>G c.14634T>G (p.Asp4878Glu) c.14619T>G (p.Asp4873Glu) c.14616T>G (p.Asp4872Glu) c.14601T>G (p.Asp4867Glu) c.14631T>G (p.Asp4877Glu) c.14547T>G (p.Asp4849Glu) | |
| 19 | g.38580493G>A | CA405688109 | RYR1 | c.1571G>A c.2968G>A c.2940G>A c.14635G>A (p.Asp4879Asn) c.14620G>A (p.Asp4874Asn) c.14617G>A (p.Asp4873Asn) c.14602G>A (p.Asp4868Asn) c.14632G>A (p.Asp4878Asn) c.14548G>A (p.Asp4850Asn) | |
| 19 | g.38580493G>C | CA405688110 | RYR1 | c.1571G>C c.2968G>C c.2940G>C c.14635G>C (p.Asp4879His) c.14620G>C (p.Asp4874His) c.14617G>C (p.Asp4873His) c.14602G>C (p.Asp4868His) c.14632G>C (p.Asp4878His) c.14548G>C (p.Asp4850His) | |
| 19 | g.38580493G>T | CA405688111 | RYR1 | c.1571G>T c.2968G>T c.2940G>T c.14635G>T (p.Asp4879Tyr) c.14620G>T (p.Asp4874Tyr) c.14617G>T (p.Asp4873Tyr) c.14602G>T (p.Asp4868Tyr) c.14632G>T (p.Asp4878Tyr) c.14548G>T (p.Asp4850Tyr) | |
| 19 | g.38580494A>C | CA405688113 | RYR1 | c.1572A>C c.2969A>C c.2941A>C c.14636A>C (p.Asp4879Ala) c.14621A>C (p.Asp4874Ala) c.14618A>C (p.Asp4873Ala) c.14603A>C (p.Asp4868Ala) c.14633A>C (p.Asp4878Ala) c.14549A>C (p.Asp4850Ala) | |
| 19 | g.38580494A>G | CA405688115 | RYR1 | c.1572A>G c.2969A>G c.2941A>G c.14636A>G (p.Asp4879Gly) c.14621A>G (p.Asp4874Gly) c.14618A>G (p.Asp4873Gly) c.14603A>G (p.Asp4868Gly) c.14633A>G (p.Asp4878Gly) c.14549A>G (p.Asp4850Gly) | gnomAD v4 COSMIC |
| 19 | g.38580494A>T | CA405688117 | RYR1 | c.1572A>T c.2969A>T c.2941A>T c.14636A>T (p.Asp4879Val) c.14621A>T (p.Asp4874Val) c.14618A>T (p.Asp4873Val) c.14603A>T (p.Asp4868Val) c.14633A>T (p.Asp4878Val) c.14549A>T (p.Asp4850Val) | |
| 19 | g.38580495C>A | CA405688119 | RYR1 | c.1573C>A c.2970C>A c.2942C>A c.14637C>A (p.Asp4879Glu) c.14622C>A (p.Asp4874Glu) c.14619C>A (p.Asp4873Glu) c.14604C>A (p.Asp4868Glu) c.14634C>A (p.Asp4878Glu) c.14550C>A (p.Asp4850Glu) | |
| 19 | g.38580495C= | CA2335092511 | RYR1 | c.1573C= c.2970C= c.2942C= c.14637C= (p.Asp4879=) c.14622C= (p.Asp4874=) c.14619C= (p.Asp4873=) c.14604C= (p.Asp4868=) c.14634C= (p.Asp4878=) c.14550C= (p.Asp4850=) | |
| 19 | g.38580495C>G | CA405688120 | RYR1 | c.1573C>G c.2970C>G c.2942C>G c.14637C>G (p.Asp4879Glu) c.14622C>G (p.Asp4874Glu) c.14619C>G (p.Asp4873Glu) c.14604C>G (p.Asp4868Glu) c.14634C>G (p.Asp4878Glu) c.14550C>G (p.Asp4850Glu) | ClinVar dbSNP |
| 19 | g.38580495C>T | CA507356185 | RYR1 | c.1573C>T c.2970C>T c.2942C>T c.14637C>T (p.Asp4879=) c.14622C>T (p.Asp4874=) c.14619C>T (p.Asp4873=) c.14604C>T (p.Asp4868=) c.14634C>T (p.Asp4878=) c.14550C>T (p.Asp4850=) | |
| 19 | g.38580496A>C | CA405688126 | RYR1 | c.1574A>C c.2971A>C c.2943A>C c.14638A>C (p.Met4880Leu) c.14623A>C (p.Met4875Leu) c.14620A>C (p.Met4874Leu) c.14605A>C (p.Met4869Leu) c.14635A>C (p.Met4879Leu) c.14551A>C (p.Met4851Leu) | |
| 19 | g.38580496A>G | CA405688123 | RYR1 | c.1574A>G c.2971A>G c.2943A>G c.14638A>G (p.Met4880Val) c.14623A>G (p.Met4875Val) c.14620A>G (p.Met4874Val) c.14605A>G (p.Met4869Val) c.14635A>G (p.Met4879Val) c.14551A>G (p.Met4851Val) | |
| 19 | g.38580496A>T | CA405688121 | RYR1 | c.1574A>T c.2971A>T c.2943A>T c.14638A>T (p.Met4880Leu) c.14623A>T (p.Met4875Leu) c.14620A>T (p.Met4874Leu) c.14605A>T (p.Met4869Leu) c.14635A>T (p.Met4879Leu) c.14551A>T (p.Met4851Leu) | |
| 19 | g.38580497T>A | CA10604997 | RYR1 | c.1575T>A c.2972T>A c.2944T>A c.14639T>A (p.Met4880Lys) c.14624T>A (p.Met4875Lys) c.14621T>A (p.Met4874Lys) c.14606T>A (p.Met4869Lys) c.14636T>A (p.Met4879Lys) c.14552T>A (p.Met4851Lys) | ClinVar dbSNP |
| 19 | g.38580497T>C | CA024202 | RYR1 | c.1575T>C c.2972T>C c.2944T>C c.14639T>C (p.Met4880Thr) c.14624T>C (p.Met4875Thr) c.14621T>C (p.Met4874Thr) c.14606T>C (p.Met4869Thr) c.14636T>C (p.Met4879Thr) c.14552T>C (p.Met4851Thr) | ClinVar dbSNP |
| 19 | g.38580497T>G | CA405688130 | RYR1 | c.1575T>G c.2972T>G c.2944T>G c.14639T>G (p.Met4880Arg) c.14624T>G (p.Met4875Arg) c.14621T>G (p.Met4874Arg) c.14606T>G (p.Met4869Arg) c.14636T>G (p.Met4879Arg) c.14552T>G (p.Met4851Arg) | |
| 19 | g.38580497T= | CA2335092512 | RYR1 | c.1575T= c.2972T= c.2944T= c.14639T= (p.Met4880=) c.14624T= (p.Met4875=) c.14621T= (p.Met4874=) c.14606T= (p.Met4869=) c.14636T= (p.Met4879=) c.14552T= (p.Met4851=) | |
| 19 | g.38580498G>A | CA405688134 | RYR1 | c.1576G>A c.2973G>A c.2945G>A c.14640G>A (p.Met4880Ile) c.14625G>A (p.Met4875Ile) c.14622G>A (p.Met4874Ile) c.14607G>A (p.Met4869Ile) c.14637G>A (p.Met4879Ile) c.14553G>A (p.Met4851Ile) | |
| 19 | g.38580498G>C | CA405688136 | RYR1 | c.1576G>C c.2973G>C c.2945G>C c.14640G>C (p.Met4880Ile) c.14625G>C (p.Met4875Ile) c.14622G>C (p.Met4874Ile) c.14607G>C (p.Met4869Ile) c.14637G>C (p.Met4879Ile) c.14553G>C (p.Met4851Ile) | |
| 19 | g.38580498G>T | CA405688142 | RYR1 | c.1576G>T c.2973G>T c.2945G>T c.14640G>T (p.Met4880Ile) c.14625G>T (p.Met4875Ile) c.14622G>T (p.Met4874Ile) c.14607G>T (p.Met4869Ile) c.14637G>T (p.Met4879Ile) c.14553G>T (p.Met4851Ile) | |
| 19 | g.38580499A= | CA2335092513 | RYR1 | c.1577A= c.2974A= c.2946A= c.14641A= (p.Met4881=) c.14626A= (p.Met4876=) c.14623A= (p.Met4875=) c.14608A= (p.Met4870=) c.14638A= (p.Met4880=) c.14554A= (p.Met4852=) | |
| 19 | g.38580499A>C | CA405688144 | RYR1 | c.1577A>C c.2974A>C c.2946A>C c.14641A>C (p.Met4881Leu) c.14626A>C (p.Met4876Leu) c.14623A>C (p.Met4875Leu) c.14608A>C (p.Met4870Leu) c.14638A>C (p.Met4880Leu) c.14554A>C (p.Met4852Leu) | |
| 19 | g.38580499A>G | CA405688146 | RYR1 | c.1577A>G c.2974A>G c.2946A>G c.14641A>G (p.Met4881Val) c.14626A>G (p.Met4876Val) c.14623A>G (p.Met4875Val) c.14608A>G (p.Met4870Val) c.14638A>G (p.Met4880Val) c.14554A>G (p.Met4852Val) | |
| 19 | g.38580499A>T | CA308122152 | RYR1 | c.1577A>T c.2974A>T c.2946A>T c.14641A>T (p.Met4881Leu) c.14626A>T (p.Met4876Leu) c.14623A>T (p.Met4875Leu) c.14608A>T (p.Met4870Leu) c.14638A>T (p.Met4880Leu) c.14554A>T (p.Met4852Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580500T>A | CA405688150 | RYR1 | c.1578T>A c.2975T>A c.2947T>A c.14642T>A (p.Met4881Lys) c.14627T>A (p.Met4876Lys) c.14624T>A (p.Met4875Lys) c.14609T>A (p.Met4870Lys) c.14639T>A (p.Met4880Lys) c.14555T>A (p.Met4852Lys) | |
| 19 | g.38580500T>C | CA405688152 | RYR1 | c.1578T>C c.2975T>C c.2947T>C c.14642T>C (p.Met4881Thr) c.14627T>C (p.Met4876Thr) c.14624T>C (p.Met4875Thr) c.14609T>C (p.Met4870Thr) c.14639T>C (p.Met4880Thr) c.14555T>C (p.Met4852Thr) | ClinVar dbSNP |
| 19 | g.38580500T>G | CA405688154 | RYR1 | c.1578T>G c.2975T>G c.2947T>G c.14642T>G (p.Met4881Arg) c.14627T>G (p.Met4876Arg) c.14624T>G (p.Met4875Arg) c.14609T>G (p.Met4870Arg) c.14639T>G (p.Met4880Arg) c.14555T>G (p.Met4852Arg) | |
| 19 | g.38580500T= | CA2335092514 | RYR1 | c.1578T= c.2975T= c.2947T= c.14642T= (p.Met4881=) c.14627T= (p.Met4876=) c.14624T= (p.Met4875=) c.14609T= (p.Met4870=) c.14639T= (p.Met4880=) c.14555T= (p.Met4852=) | |
| 19 | g.38580501G>A | CA405688159 | RYR1 | c.1579G>A c.2976G>A c.2948G>A c.14643G>A (p.Met4881Ile) c.14628G>A (p.Met4876Ile) c.14625G>A (p.Met4875Ile) c.14610G>A (p.Met4870Ile) c.14640G>A (p.Met4880Ile) c.14556G>A (p.Met4852Ile) | |
| 19 | g.38580501G>C | CA405688158 | RYR1 | c.1579G>C c.2976G>C c.2948G>C c.14643G>C (p.Met4881Ile) c.14628G>C (p.Met4876Ile) c.14625G>C (p.Met4875Ile) c.14610G>C (p.Met4870Ile) c.14640G>C (p.Met4880Ile) c.14556G>C (p.Met4852Ile) | |
| 19 | g.38580501G= | CA2335092515 | RYR1 | c.1579G= c.2976G= c.2948G= c.14643G= (p.Met4881=) c.14628G= (p.Met4876=) c.14625G= (p.Met4875=) c.14610G= (p.Met4870=) c.14640G= (p.Met4880=) c.14556G= (p.Met4852=) | |
| 19 | g.38580501G>T | CA061439 | RYR1 | c.1579G>T c.2976G>T c.2948G>T c.14643G>T (p.Met4881Ile) c.14628G>T (p.Met4876Ile) c.14625G>T (p.Met4875Ile) c.14610G>T (p.Met4870Ile) c.14640G>T (p.Met4880Ile) c.14556G>T (p.Met4852Ile) | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.38580502A>C | CA405688161 | RYR1 | c.1580A>C c.2977A>C c.2949A>C c.14644A>C (p.Thr4882Pro) c.14629A>C (p.Thr4877Pro) c.14626A>C (p.Thr4876Pro) c.14611A>C (p.Thr4871Pro) c.14641A>C (p.Thr4881Pro) c.14557A>C (p.Thr4853Pro) | |
| 19 | g.38580502A>G | CA405688163 | RYR1 | c.1580A>G c.2977A>G c.2949A>G c.14644A>G (p.Thr4882Ala) c.14629A>G (p.Thr4877Ala) c.14626A>G (p.Thr4876Ala) c.14611A>G (p.Thr4871Ala) c.14641A>G (p.Thr4881Ala) c.14557A>G (p.Thr4853Ala) | |
| 19 | g.38580502A>T | CA405688164 | RYR1 | c.1580A>T c.2977A>T c.2949A>T c.14644A>T (p.Thr4882Ser) c.14629A>T (p.Thr4877Ser) c.14626A>T (p.Thr4876Ser) c.14611A>T (p.Thr4871Ser) c.14641A>T (p.Thr4881Ser) c.14557A>T (p.Thr4853Ser) | |
| 19 | g.38580503C>A | CA405688166 | RYR1 | c.1581C>A c.2978C>A c.2950C>A c.14645C>A (p.Thr4882Lys) c.14630C>A (p.Thr4877Lys) c.14627C>A (p.Thr4876Lys) c.14612C>A (p.Thr4871Lys) c.14642C>A (p.Thr4881Lys) c.14558C>A (p.Thr4853Lys) | |
| 19 | g.38580503C= | CA2335092516 | RYR1 | c.1581C= c.2978C= c.2950C= c.14645C= (p.Thr4882=) c.14630C= (p.Thr4877=) c.14627C= (p.Thr4876=) c.14612C= (p.Thr4871=) c.14642C= (p.Thr4881=) c.14558C= (p.Thr4853=) | |
| 19 | g.38580503C>G | CA405688167 | RYR1 | c.1581C>G c.2978C>G c.2950C>G c.14645C>G (p.Thr4882Arg) c.14630C>G (p.Thr4877Arg) c.14627C>G (p.Thr4876Arg) c.14612C>G (p.Thr4871Arg) c.14642C>G (p.Thr4881Arg) c.14558C>G (p.Thr4853Arg) | |
| 19 | g.38580503C>T | CA024204 | RYR1 | c.1581C>T c.2978C>T c.2950C>T c.14645C>T (p.Thr4882Met) c.14630C>T (p.Thr4877Met) c.14627C>T (p.Thr4876Met) c.14612C>T (p.Thr4871Met) c.14642C>T (p.Thr4881Met) c.14558C>T (p.Thr4853Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38580504G>A | CA061474 | RYR1 | c.1582G>A c.2979G>A c.2951G>A c.14646G>A (p.Thr4882=) c.14631G>A (p.Thr4877=) c.14628G>A (p.Thr4876=) c.14613G>A (p.Thr4871=) c.14643G>A (p.Thr4881=) c.14559G>A (p.Thr4853=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580504G>C | CA507356205 | RYR1 | c.1582G>C c.2979G>C c.2951G>C c.14646G>C (p.Thr4882=) c.14631G>C (p.Thr4877=) c.14628G>C (p.Thr4876=) c.14613G>C (p.Thr4871=) c.14643G>C (p.Thr4881=) c.14559G>C (p.Thr4853=) | gnomAD v4 |
| 19 | g.38580504G= | CA2335092517 | RYR1 | c.1582G= c.2979G= c.2951G= c.14646G= (p.Thr4882=) c.14631G= (p.Thr4877=) c.14628G= (p.Thr4876=) c.14613G= (p.Thr4871=) c.14643G= (p.Thr4881=) c.14559G= (p.Thr4853=) | |
| 19 | g.38580504G>T | CA081272 | RYR1 | c.1582G>T c.2979G>T c.2951G>T c.14646G>T (p.Thr4882=) c.14631G>T (p.Thr4877=) c.14628G>T (p.Thr4876=) c.14613G>T (p.Thr4871=) c.14643G>T (p.Thr4881=) c.14559G>T (p.Thr4853=) | gnomAD v4 |
| 19 | g.38580505G>A | CA405688182 | RYR1 | c.1582+1G>A c.2979+1G>A c.2951+1G>A c.14646+1G>A (n.14646+1G>A) c.14631+1G>A (n.14631+1G>A) c.14628+1G>A (n.14628+1G>A) c.14613+1G>A (n.14613+1G>A) c.14643+1G>A (n.14643+1G>A) c.14559+1G>A (n.14559+1G>A) | |
| 19 | g.38580505G>C | CA405688183 | RYR1 | c.1582+1G>C c.2979+1G>C c.2951+1G>C c.14646+1G>C (n.14646+1G>C) c.14631+1G>C (n.14631+1G>C) c.14628+1G>C (n.14628+1G>C) c.14613+1G>C (n.14613+1G>C) c.14643+1G>C (n.14643+1G>C) c.14559+1G>C (n.14559+1G>C) | |
| 19 | g.38580505G= | CA2335092518 | RYR1 | c.1582+1G= c.2979+1G= c.2951+1G= c.14646+1G= (n.14646+1G=) c.14631+1G= (n.14631+1G=) c.14628+1G= (n.14628+1G=) c.14613+1G= (n.14613+1G=) c.14643+1G= (n.14643+1G=) c.14559+1G= (n.14559+1G=) | |
| 19 | g.38580505G>T | CA308122167 | RYR1 | c.1582+1G>T c.2979+1G>T c.2951+1G>T c.14646+1G>T (n.14646+1G>T) c.14631+1G>T (n.14631+1G>T) c.14628+1G>T (n.14628+1G>T) c.14613+1G>T (n.14613+1G>T) c.14643+1G>T (n.14643+1G>T) c.14559+1G>T (n.14559+1G>T) | dbSNP |
| 19 | g.38580506T>A | CA405688184 | RYR1 | c.1582+2T>A c.2979+2T>A c.2951+2T>A c.14646+2T>A (n.14646+2T>A) c.14631+2T>A (n.14631+2T>A) c.14628+2T>A (n.14628+2T>A) c.14613+2T>A (n.14613+2T>A) c.14643+2T>A (n.14643+2T>A) c.14559+2T>A (n.14559+2T>A) | |
| 19 | g.38580506T>C | CA405688185 | RYR1 | c.1582+2T>C c.2979+2T>C c.2951+2T>C c.14646+2T>C (n.14646+2T>C) c.14631+2T>C (n.14631+2T>C) c.14628+2T>C (n.14628+2T>C) c.14613+2T>C (n.14613+2T>C) c.14643+2T>C (n.14643+2T>C) c.14559+2T>C (n.14559+2T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580506T>G | CA308122170 | RYR1 | c.1582+2T>G c.2979+2T>G c.2951+2T>G c.14646+2T>G (n.14646+2T>G) c.14631+2T>G (n.14631+2T>G) c.14628+2T>G (n.14628+2T>G) c.14613+2T>G (n.14613+2T>G) c.14643+2T>G (n.14643+2T>G) c.14559+2T>G (n.14559+2T>G) | dbSNP |
| 19 | g.38580506T= | CA2335092519 | RYR1 | c.1582+2T= c.2979+2T= c.2951+2T= c.14646+2T= (n.14646+2T=) c.14631+2T= (n.14631+2T=) c.14628+2T= (n.14628+2T=) c.14613+2T= (n.14613+2T=) c.14643+2T= (n.14643+2T=) c.14559+2T= (n.14559+2T=) | |
| 19 | g.38580508A= | CA2335092520 | RYR1 | c.1582+4A= c.2979+4A= c.2951+4A= c.14646+4A= (n.14646+4A=) c.14631+4A= (n.14631+4A=) c.14628+4A= (n.14628+4A=) c.14613+4A= (n.14613+4A=) c.14643+4A= (n.14643+4A=) c.14559+4A= (n.14559+4A=) | |
| 19 | g.38580508A>G | CA061465 | RYR1 | c.1582+4A>G c.2979+4A>G c.2951+4A>G c.14646+4A>G (n.14646+4A>G) c.14631+4A>G (n.14631+4A>G) c.14628+4A>G (n.14628+4A>G) c.14613+4A>G (n.14613+4A>G) c.14643+4A>G (n.14643+4A>G) c.14559+4A>G (n.14559+4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580510C= | CA2335092521 | RYR1 | c.1582+6C= c.2979+6C= c.2951+6C= c.14646+6C= (n.14646+6C=) c.14631+6C= (n.14631+6C=) c.14628+6C= (n.14628+6C=) c.14613+6C= (n.14613+6C=) c.14643+6C= (n.14643+6C=) c.14559+6C= (n.14559+6C=) | |
| 19 | g.38580510C>G | CA995740584 | RYR1 | c.1582+6C>G c.2979+6C>G c.2951+6C>G c.14646+6C>G (n.14646+6C>G) c.14631+6C>G (n.14631+6C>G) c.14628+6C>G (n.14628+6C>G) c.14613+6C>G (n.14613+6C>G) c.14643+6C>G (n.14643+6C>G) c.14559+6C>G (n.14559+6C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580510C>T | CA2335092522 | RYR1 | c.1582+6C>T c.2979+6C>T c.2951+6C>T c.14646+6C>T (n.14646+6C>T) c.14631+6C>T (n.14631+6C>T) c.14628+6C>T (n.14628+6C>T) c.14613+6C>T (n.14613+6C>T) c.14643+6C>T (n.14643+6C>T) c.14559+6C>T (n.14559+6C>T) | dbSNP |
| 19 | g.38580513del | CA2576827527 | RYR1 | c.1582+9del c.2979+9del c.2951+9del c.14646+9del (n.14646+9del) c.14631+9del (n.14631+9del) c.14628+9del (n.14628+9del) c.14613+9del (n.14613+9del) c.14643+9del (n.14643+9del) c.14559+9del (n.14559+9del) | |
| 19 | g.38580513C= | CA2335092523 | RYR1 | c.1582+9C= c.2979+9C= c.2951+9C= c.14646+9C= (n.14646+9C=) c.14631+9C= (n.14631+9C=) c.14628+9C= (n.14628+9C=) c.14613+9C= (n.14613+9C=) c.14643+9C= (n.14643+9C=) c.14559+9C= (n.14559+9C=) | |
| 19 | g.38580513C>T | CA061469 | RYR1 | c.1582+9C>T c.2979+9C>T c.2951+9C>T c.14646+9C>T (n.14646+9C>T) c.14631+9C>T (n.14631+9C>T) c.14628+9C>T (n.14628+9C>T) c.14613+9C>T (n.14613+9C>T) c.14643+9C>T (n.14643+9C>T) c.14559+9C>T (n.14559+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580514_38580515delinsTC | CA2335092524 | RYR1 | c.1582+10_1582+11delinsTC c.2979+10_2979+11delinsTC c.2951+10_2951+11delinsTC c.14646+10_14646+11delinsTC (n.14646+10_14646+11delinsTC) c.14631+10_14631+11delinsTC (n.14631+10_14631+11delinsTC) c.14628+10_14628+11delinsTC (n.14628+10_14628+11delinsTC) c.14613+10_14613+11delinsTC (n.14613+10_14613+11delinsTC) c.14643+10_14643+11delinsTC (n.14643+10_14643+11delinsTC) c.14559+10_14559+11delinsTC (n.14559+10_14559+11delinsTC) | |
| 19 | g.38580518del | CA633066915 | RYR1 | c.1582+14del c.2979+14del c.2951+14del c.14646+14del (n.14646+14del) c.14631+14del (n.14631+14del) c.14628+14del (n.14628+14del) c.14613+14del (n.14613+14del) c.14643+14del (n.14643+14del) c.14559+14del (n.14559+14del) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580516C>A | CA061445 | RYR1 | c.1582+12C>A c.2979+12C>A c.2951+12C>A c.14646+12C>A (n.14646+12C>A) c.14631+12C>A (n.14631+12C>A) c.14628+12C>A (n.14628+12C>A) c.14613+12C>A (n.14613+12C>A) c.14643+12C>A (n.14643+12C>A) c.14559+12C>A (n.14559+12C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580516C= | CA2335092525 | RYR1 | c.1582+12C= c.2979+12C= c.2951+12C= c.14646+12C= (n.14646+12C=) c.14631+12C= (n.14631+12C=) c.14628+12C= (n.14628+12C=) c.14613+12C= (n.14613+12C=) c.14643+12C= (n.14643+12C=) c.14559+12C= (n.14559+12C=) | |
| 19 | g.38580516C>G | CA308122190 | RYR1 | c.1582+12C>G c.2979+12C>G c.2951+12C>G c.14646+12C>G (n.14646+12C>G) c.14631+12C>G (n.14631+12C>G) c.14628+12C>G (n.14628+12C>G) c.14613+12C>G (n.14613+12C>G) c.14643+12C>G (n.14643+12C>G) c.14559+12C>G (n.14559+12C>G) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580516C>T | CA061446 | RYR1 | c.1582+12C>T c.2979+12C>T c.2951+12C>T c.14646+12C>T (n.14646+12C>T) c.14631+12C>T (n.14631+12C>T) c.14628+12C>T (n.14628+12C>T) c.14613+12C>T (n.14613+12C>T) c.14643+12C>T (n.14643+12C>T) c.14559+12C>T (n.14559+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580517C>G | CA2576827528 | RYR1 | c.1582+13C>G c.2979+13C>G c.2951+13C>G c.14646+13C>G (n.14646+13C>G) c.14631+13C>G (n.14631+13C>G) c.14628+13C>G (n.14628+13C>G) c.14613+13C>G (n.14613+13C>G) c.14643+13C>G (n.14643+13C>G) c.14559+13C>G (n.14559+13C>G) | gnomAD v4 |
| 19 | g.38580518C= | CA2335092526 | RYR1 | c.1582+14C= c.2979+14C= c.2951+14C= c.14646+14C= (n.14646+14C=) c.14631+14C= (n.14631+14C=) c.14628+14C= (n.14628+14C=) c.14613+14C= (n.14613+14C=) c.14643+14C= (n.14643+14C=) c.14559+14C= (n.14559+14C=) | |
| 19 | g.38580518C>G | CA061448 | RYR1 | c.1582+14C>G c.2979+14C>G c.2951+14C>G c.14646+14C>G (n.14646+14C>G) c.14631+14C>G (n.14631+14C>G) c.14628+14C>G (n.14628+14C>G) c.14613+14C>G (n.14613+14C>G) c.14643+14C>G (n.14643+14C>G) c.14559+14C>G (n.14559+14C>G) | ClinVar dbSNP ExAC gnomAD v4 |
| 19 | g.38580521G>A | CA2580097250 | RYR1 | c.1582+17G>A c.2979+17G>A c.2951+17G>A c.14646+17G>A (n.14646+17G>A) c.14631+17G>A (n.14631+17G>A) c.14628+17G>A (n.14628+17G>A) c.14613+17G>A (n.14613+17G>A) c.14643+17G>A (n.14643+17G>A) c.14559+17G>A (n.14559+17G>A) | ClinVar |
| 19 | g.38580521G>C | CA2584911320 | RYR1 | c.1582+17G>C c.2979+17G>C c.2951+17G>C c.14646+17G>C (n.14646+17G>C) c.14631+17G>C (n.14631+17G>C) c.14628+17G>C (n.14628+17G>C) c.14613+17G>C (n.14613+17G>C) c.14643+17G>C (n.14643+17G>C) c.14559+17G>C (n.14559+17G>C) | gnomAD v4 |
| 19 | g.38580522C= | CA2335092527 | RYR1 | c.1582+18C= c.2979+18C= c.2951+18C= c.14646+18C= (n.14646+18C=) c.14631+18C= (n.14631+18C=) c.14628+18C= (n.14628+18C=) c.14613+18C= (n.14613+18C=) c.14643+18C= (n.14643+18C=) c.14559+18C= (n.14559+18C=) | |
| 19 | g.38580522C>T | CA061452 | RYR1 | c.1582+18C>T c.2979+18C>T c.2951+18C>T c.14646+18C>T (n.14646+18C>T) c.14631+18C>T (n.14631+18C>T) c.14628+18C>T (n.14628+18C>T) c.14613+18C>T (n.14613+18C>T) c.14643+18C>T (n.14643+18C>T) c.14559+18C>T (n.14559+18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580524C= | CA2335092528 | RYR1 | c.1582+20C= c.2979+20C= c.2951+20C= c.14646+20C= (n.14646+20C=) c.14631+20C= (n.14631+20C=) c.14628+20C= (n.14628+20C=) c.14613+20C= (n.14613+20C=) c.14643+20C= (n.14643+20C=) c.14559+20C= (n.14559+20C=) | |
| 19 | g.38580524C>G | CA061453 | RYR1 | c.1582+20C>G c.2979+20C>G c.2951+20C>G c.14646+20C>G (n.14646+20C>G) c.14631+20C>G (n.14631+20C>G) c.14628+20C>G (n.14628+20C>G) c.14613+20C>G (n.14613+20C>G) c.14643+20C>G (n.14643+20C>G) c.14559+20C>G (n.14559+20C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580524C>T | CA633066916 | RYR1 | c.1582+20C>T c.2979+20C>T c.2951+20C>T c.14646+20C>T (n.14646+20C>T) c.14631+20C>T (n.14631+20C>T) c.14628+20C>T (n.14628+20C>T) c.14613+20C>T (n.14613+20C>T) c.14643+20C>T (n.14643+20C>T) c.14559+20C>T (n.14559+20C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580525T>C | CA2584911321 | RYR1 | c.1582+21T>C c.2979+21T>C c.2951+21T>C c.14646+21T>C (n.14646+21T>C) c.14631+21T>C (n.14631+21T>C) c.14628+21T>C (n.14628+21T>C) c.14613+21T>C (n.14613+21T>C) c.14643+21T>C (n.14643+21T>C) c.14559+21T>C (n.14559+21T>C) | gnomAD v4 |
| 19 | g.38580526C= | CA2335092529 | RYR1 | c.1582+22C= c.2979+22C= c.2951+22C= c.14646+22C= (n.14646+22C=) c.14631+22C= (n.14631+22C=) c.14628+22C= (n.14628+22C=) c.14613+22C= (n.14613+22C=) c.14643+22C= (n.14643+22C=) c.14559+22C= (n.14559+22C=) | |
| 19 | g.38580526C>G | CA061455 | RYR1 | c.1582+22C>G c.2979+22C>G c.2951+22C>G c.14646+22C>G (n.14646+22C>G) c.14631+22C>G (n.14631+22C>G) c.14628+22C>G (n.14628+22C>G) c.14613+22C>G (n.14613+22C>G) c.14643+22C>G (n.14643+22C>G) c.14559+22C>G (n.14559+22C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580526C>T | CA2814346398 | RYR1 | c.1582+22C>T c.2979+22C>T c.2951+22C>T c.14646+22C>T (n.14646+22C>T) c.14631+22C>T (n.14631+22C>T) c.14628+22C>T (n.14628+22C>T) c.14613+22C>T (n.14613+22C>T) c.14643+22C>T (n.14643+22C>T) c.14559+22C>T (n.14559+22C>T) | |
| 19 | g.38580528G>A | CA2584911322 | RYR1 | c.1582+24G>A c.2979+24G>A c.2951+24G>A c.14646+24G>A (n.14646+24G>A) c.14631+24G>A (n.14631+24G>A) c.14628+24G>A (n.14628+24G>A) c.14613+24G>A (n.14613+24G>A) c.14643+24G>A (n.14643+24G>A) c.14559+24G>A (n.14559+24G>A) | gnomAD v4 |
| 19 | g.38580530G>A | CA2511342080 | RYR1 | c.1582+26G>A c.2979+26G>A c.2951+26G>A c.14646+26G>A (n.14646+26G>A) c.14631+26G>A (n.14631+26G>A) c.14628+26G>A (n.14628+26G>A) c.14613+26G>A (n.14613+26G>A) c.14643+26G>A (n.14643+26G>A) c.14559+26G>A (n.14559+26G>A) | |
| 19 | g.38580530G>T | CA2584911323 | RYR1 | c.1582+26G>T c.2979+26G>T c.2951+26G>T c.14646+26G>T (n.14646+26G>T) c.14631+26G>T (n.14631+26G>T) c.14628+26G>T (n.14628+26G>T) c.14613+26G>T (n.14613+26G>T) c.14643+26G>T (n.14643+26G>T) c.14559+26G>T (n.14559+26G>T) | gnomAD v4 |
| 19 | g.38580531A= | CA2335092530 | RYR1 | c.1582+27A= c.2979+27A= c.2951+27A= c.14646+27A= (n.14646+27A=) c.14631+27A= (n.14631+27A=) c.14628+27A= (n.14628+27A=) c.14613+27A= (n.14613+27A=) c.14643+27A= (n.14643+27A=) c.14559+27A= (n.14559+27A=) | |
| 19 | g.38580531A>C | CA308122209 | RYR1 | c.1582+27A>C c.2979+27A>C c.2951+27A>C c.14646+27A>C (n.14646+27A>C) c.14631+27A>C (n.14631+27A>C) c.14628+27A>C (n.14628+27A>C) c.14613+27A>C (n.14613+27A>C) c.14643+27A>C (n.14643+27A>C) c.14559+27A>C (n.14559+27A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580531A>G | CA2584911324 | RYR1 | c.1582+27A>G c.2979+27A>G c.2951+27A>G c.14646+27A>G (n.14646+27A>G) c.14631+27A>G (n.14631+27A>G) c.14628+27A>G (n.14628+27A>G) c.14613+27A>G (n.14613+27A>G) c.14643+27A>G (n.14643+27A>G) c.14559+27A>G (n.14559+27A>G) | gnomAD v4 |
| 19 | g.38580534del | CA2584911325 | RYR1 | c.1582+30del c.2979+30del c.2951+30del c.14646+30del (n.14646+30del) c.14631+30del (n.14631+30del) c.14628+30del (n.14628+30del) c.14613+30del (n.14613+30del) c.14643+30del (n.14643+30del) c.14559+30del (n.14559+30del) | gnomAD v4 |
| 19 | g.38580534C>A | CA632877088 | RYR1 | c.1582+30C>A c.2979+30C>A c.2951+30C>A c.14646+30C>A (n.14646+30C>A) c.14631+30C>A (n.14631+30C>A) c.14628+30C>A (n.14628+30C>A) c.14613+30C>A (n.14613+30C>A) c.14643+30C>A (n.14643+30C>A) c.14559+30C>A (n.14559+30C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580534C= | CA2335092531 | RYR1 | c.1582+30C= c.2979+30C= c.2951+30C= c.14646+30C= (n.14646+30C=) c.14631+30C= (n.14631+30C=) c.14628+30C= (n.14628+30C=) c.14613+30C= (n.14613+30C=) c.14643+30C= (n.14643+30C=) c.14559+30C= (n.14559+30C=) | |
| 19 | g.38580534C>T | CA2584911326 | RYR1 | c.1582+30C>T c.2979+30C>T c.2951+30C>T c.14646+30C>T (n.14646+30C>T) c.14631+30C>T (n.14631+30C>T) c.14628+30C>T (n.14628+30C>T) c.14613+30C>T (n.14613+30C>T) c.14643+30C>T (n.14643+30C>T) c.14559+30C>T (n.14559+30C>T) | gnomAD v4 |
| 19 | g.38580537C= | CA2335092532 | RYR1 | c.1582+33C= c.2979+33C= c.2951+33C= c.14646+33C= (n.14646+33C=) c.14631+33C= (n.14631+33C=) c.14628+33C= (n.14628+33C=) c.14613+33C= (n.14613+33C=) c.14643+33C= (n.14643+33C=) c.14559+33C= (n.14559+33C=) | |
| 19 | g.38580537C>G | CA2335092533 | RYR1 | c.1582+33C>G c.2979+33C>G c.2951+33C>G c.14646+33C>G (n.14646+33C>G) c.14631+33C>G (n.14631+33C>G) c.14628+33C>G (n.14628+33C>G) c.14613+33C>G (n.14613+33C>G) c.14643+33C>G (n.14643+33C>G) c.14559+33C>G (n.14559+33C>G) | dbSNP gnomAD v4 |
| 19 | g.38580538C= | CA2335092534 | RYR1 | c.1582+34C= c.2979+34C= c.2951+34C= c.14646+34C= (n.14646+34C=) c.14631+34C= (n.14631+34C=) c.14628+34C= (n.14628+34C=) c.14613+34C= (n.14613+34C=) c.14643+34C= (n.14643+34C=) c.14559+34C= (n.14559+34C=) | |
| 19 | g.38580538C>T | CA061459 | RYR1 | c.1582+34C>T c.2979+34C>T c.2951+34C>T c.14646+34C>T (n.14646+34C>T) c.14631+34C>T (n.14631+34C>T) c.14628+34C>T (n.14628+34C>T) c.14613+34C>T (n.14613+34C>T) c.14643+34C>T (n.14643+34C>T) c.14559+34C>T (n.14559+34C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580540T>G | CA061461 | RYR1 | c.1582+36T>G c.2979+36T>G c.2951+36T>G c.14646+36T>G (n.14646+36T>G) c.14631+36T>G (n.14631+36T>G) c.14628+36T>G (n.14628+36T>G) c.14613+36T>G (n.14613+36T>G) c.14643+36T>G (n.14643+36T>G) c.14559+36T>G (n.14559+36T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38580540T= | CA2335092535 | RYR1 | c.1582+36T= c.2979+36T= c.2951+36T= c.14646+36T= (n.14646+36T=) c.14631+36T= (n.14631+36T=) c.14628+36T= (n.14628+36T=) c.14613+36T= (n.14613+36T=) c.14643+36T= (n.14643+36T=) c.14559+36T= (n.14559+36T=) | |
| 19 | g.38580542T>A | CA632877090 | RYR1 | c.1582+38T>A c.2979+38T>A c.2951+38T>A c.14646+38T>A (n.14646+38T>A) c.14631+38T>A (n.14631+38T>A) c.14628+38T>A (n.14628+38T>A) c.14613+38T>A (n.14613+38T>A) c.14643+38T>A (n.14643+38T>A) c.14559+38T>A (n.14559+38T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580542T= | CA2335092536 | RYR1 | c.1582+38T= c.2979+38T= c.2951+38T= c.14646+38T= (n.14646+38T=) c.14631+38T= (n.14631+38T=) c.14628+38T= (n.14628+38T=) c.14613+38T= (n.14613+38T=) c.14643+38T= (n.14643+38T=) c.14559+38T= (n.14559+38T=) | |
| 19 | g.38580543C>A | CA2584911327 | RYR1 | c.1582+39C>A c.2979+39C>A c.2951+39C>A c.14646+39C>A (n.14646+39C>A) c.14631+39C>A (n.14631+39C>A) c.14628+39C>A (n.14628+39C>A) c.14613+39C>A (n.14613+39C>A) c.14643+39C>A (n.14643+39C>A) c.14559+39C>A (n.14559+39C>A) | gnomAD v4 |
| 19 | g.38580543C= | CA2335092537 | RYR1 | c.1582+39C= c.2979+39C= c.2951+39C= c.14646+39C= (n.14646+39C=) c.14631+39C= (n.14631+39C=) c.14628+39C= (n.14628+39C=) c.14613+39C= (n.14613+39C=) c.14643+39C= (n.14643+39C=) c.14559+39C= (n.14559+39C=) | |
| 19 | g.38580543C>T | CA308122217 | RYR1 | c.1582+39C>T c.2979+39C>T c.2951+39C>T c.14646+39C>T (n.14646+39C>T) c.14631+39C>T (n.14631+39C>T) c.14628+39C>T (n.14628+39C>T) c.14613+39C>T (n.14613+39C>T) c.14643+39C>T (n.14643+39C>T) c.14559+39C>T (n.14559+39C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580544G>A | CA507246077 | RYR1 | c.1582+40G>A c.2979+40G>A c.2951+40G>A c.14646+40G>A (n.14646+40G>A) c.14631+40G>A (n.14631+40G>A) c.14628+40G>A (n.14628+40G>A) c.14613+40G>A (n.14613+40G>A) c.14643+40G>A (n.14643+40G>A) c.14559+40G>A (n.14559+40G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580544G>C | CA2584911328 | RYR1 | c.1582+40G>C c.2979+40G>C c.2951+40G>C c.14646+40G>C (n.14646+40G>C) c.14631+40G>C (n.14631+40G>C) c.14628+40G>C (n.14628+40G>C) c.14613+40G>C (n.14613+40G>C) c.14643+40G>C (n.14643+40G>C) c.14559+40G>C (n.14559+40G>C) | gnomAD v4 |
| 19 | g.38580544G= | CA2335092538 | RYR1 | c.1582+40G= c.2979+40G= c.2951+40G= c.14646+40G= (n.14646+40G=) c.14631+40G= (n.14631+40G=) c.14628+40G= (n.14628+40G=) c.14613+40G= (n.14613+40G=) c.14643+40G= (n.14643+40G=) c.14559+40G= (n.14559+40G=) | |
| 19 | g.38580546A= | CA2335092539 | RYR1 | c.1582+42A= c.2979+42A= c.2951+42A= c.14646+42A= (n.14646+42A=) c.14631+42A= (n.14631+42A=) c.14628+42A= (n.14628+42A=) c.14613+42A= (n.14613+42A=) c.14643+42A= (n.14643+42A=) c.14559+42A= (n.14559+42A=) | |
| 19 | g.38580546A>G | CA632877093 | RYR1 | c.1582+42A>G c.2979+42A>G c.2951+42A>G c.14646+42A>G (n.14646+42A>G) c.14631+42A>G (n.14631+42A>G) c.14628+42A>G (n.14628+42A>G) c.14613+42A>G (n.14613+42A>G) c.14643+42A>G (n.14643+42A>G) c.14559+42A>G (n.14559+42A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580548C>A | CA2335092541 | RYR1 | c.1582+44C>A c.2979+44C>A c.2951+44C>A c.14646+44C>A (n.14646+44C>A) c.14631+44C>A (n.14631+44C>A) c.14628+44C>A (n.14628+44C>A) c.14613+44C>A (n.14613+44C>A) c.14643+44C>A (n.14643+44C>A) c.14559+44C>A (n.14559+44C>A) | dbSNP |
| 19 | g.38580548C= | CA2335092540 | RYR1 | c.1582+44C= c.2979+44C= c.2951+44C= c.14646+44C= (n.14646+44C=) c.14631+44C= (n.14631+44C=) c.14628+44C= (n.14628+44C=) c.14613+44C= (n.14613+44C=) c.14643+44C= (n.14643+44C=) c.14559+44C= (n.14559+44C=) | |
| 19 | g.38580548C>T | CA882064665 | RYR1 | c.1582+44C>T c.2979+44C>T c.2951+44C>T c.14646+44C>T (n.14646+44C>T) c.14631+44C>T (n.14631+44C>T) c.14628+44C>T (n.14628+44C>T) c.14613+44C>T (n.14613+44C>T) c.14643+44C>T (n.14643+44C>T) c.14559+44C>T (n.14559+44C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38580550G>A | CA2584911329 | RYR1 | c.1582+46G>A c.2979+46G>A c.2951+46G>A c.14646+46G>A (n.14646+46G>A) c.14631+46G>A (n.14631+46G>A) c.14628+46G>A (n.14628+46G>A) c.14613+46G>A (n.14613+46G>A) c.14643+46G>A (n.14643+46G>A) c.14559+46G>A (n.14559+46G>A) | gnomAD v4 |