| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580441C>A | CA061401 | RYR1 | c.1519C>A c.2916C>A c.2888C>A c.14583C>A (p.Arg4861=) c.14568C>A (p.Arg4856=) c.14565C>A (p.Arg4855=) c.14550C>A (p.Arg4850=) c.14580C>A (p.Arg4860=) c.14496C>A (p.Arg4832=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580441C= | CA2335092482 | RYR1 | c.1519C= c.2916C= c.2888C= c.14583C= (p.Arg4861=) c.14568C= (p.Arg4856=) c.14565C= (p.Arg4855=) c.14550C= (p.Arg4850=) c.14580C= (p.Arg4860=) c.14496C= (p.Arg4832=) | |
| 19 | g.38580441C>G | CA507356128 | RYR1 | c.1519C>G c.2916C>G c.2888C>G c.14583C>G (p.Arg4861=) c.14568C>G (p.Arg4856=) c.14565C>G (p.Arg4855=) c.14550C>G (p.Arg4850=) c.14580C>G (p.Arg4860=) c.14496C>G (p.Arg4832=) | dbSNP |
| 19 | g.38580441C>T | CA081262 | RYR1 | c.1519C>T c.2916C>T c.2888C>T c.14583C>T (p.Arg4861=) c.14568C>T (p.Arg4856=) c.14565C>T (p.Arg4855=) c.14550C>T (p.Arg4850=) c.14580C>T (p.Arg4860=) c.14496C>T (p.Arg4832=) | gnomAD v4 COSMIC |
| 19 | g.38580442A>C | CA405687811 | RYR1 | c.1520A>C c.2917A>C c.2889A>C c.14584A>C (p.Lys4862Gln) c.14569A>C (p.Lys4857Gln) c.14566A>C (p.Lys4856Gln) c.14551A>C (p.Lys4851Gln) c.14581A>C (p.Lys4861Gln) c.14497A>C (p.Lys4833Gln) | |
| 19 | g.38580442A>G | CA405687812 | RYR1 | c.1520A>G c.2917A>G c.2889A>G c.14584A>G (p.Lys4862Glu) c.14569A>G (p.Lys4857Glu) c.14566A>G (p.Lys4856Glu) c.14551A>G (p.Lys4851Glu) c.14581A>G (p.Lys4861Glu) c.14497A>G (p.Lys4833Glu) | |
| 19 | g.38580442A>T | CA405687815 | RYR1 | c.1520A>T c.2917A>T c.2889A>T c.14584A>T (p.Lys4862Ter) c.14569A>T (p.Lys4857Ter) c.14566A>T (p.Lys4856Ter) c.14551A>T (p.Lys4851Ter) c.14581A>T (p.Lys4861Ter) c.14497A>T (p.Lys4833Ter) | |
| 19 | g.38580443A= | CA2335092483 | RYR1 | c.1521A= c.2918A= c.2890A= c.14585A= (p.Lys4862=) c.14570A= (p.Lys4857=) c.14567A= (p.Lys4856=) c.14552A= (p.Lys4851=) c.14582A= (p.Lys4861=) c.14498A= (p.Lys4833=) | |
| 19 | g.38580443A>C | CA405687817 | RYR1 | c.1521A>C c.2918A>C c.2890A>C c.14585A>C (p.Lys4862Thr) c.14570A>C (p.Lys4857Thr) c.14567A>C (p.Lys4856Thr) c.14552A>C (p.Lys4851Thr) c.14582A>C (p.Lys4861Thr) c.14498A>C (p.Lys4833Thr) | ClinVar dbSNP |
| 19 | g.38580443A>G | CA405687818 | RYR1 | c.1521A>G c.2918A>G c.2890A>G c.14585A>G (p.Lys4862Arg) c.14570A>G (p.Lys4857Arg) c.14567A>G (p.Lys4856Arg) c.14552A>G (p.Lys4851Arg) c.14582A>G (p.Lys4861Arg) c.14498A>G (p.Lys4833Arg) | |
| 19 | g.38580443A>T | CA405687819 | RYR1 | c.1521A>T c.2918A>T c.2890A>T c.14585A>T (p.Lys4862Met) c.14570A>T (p.Lys4857Met) c.14567A>T (p.Lys4856Met) c.14552A>T (p.Lys4851Met) c.14582A>T (p.Lys4861Met) c.14498A>T (p.Lys4833Met) | |
| 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.38580444G>A | CA507356129 | RYR1 | c.1522G>A c.2919G>A c.2891G>A c.14586G>A (p.Lys4862=) c.14571G>A (p.Lys4857=) c.14568G>A (p.Lys4856=) c.14553G>A (p.Lys4851=) c.14583G>A (p.Lys4861=) c.14499G>A (p.Lys4833=) | |
| 19 | g.38580444G>C | CA405687822 | RYR1 | c.1522G>C c.2919G>C c.2891G>C c.14586G>C (p.Lys4862Asn) c.14571G>C (p.Lys4857Asn) c.14568G>C (p.Lys4856Asn) c.14553G>C (p.Lys4851Asn) c.14583G>C (p.Lys4861Asn) c.14499G>C (p.Lys4833Asn) | |
| 19 | g.38580444G>T | CA405687824 | RYR1 | c.1522G>T c.2919G>T c.2891G>T c.14586G>T (p.Lys4862Asn) c.14571G>T (p.Lys4857Asn) c.14568G>T (p.Lys4856Asn) c.14553G>T (p.Lys4851Asn) c.14583G>T (p.Lys4861Asn) c.14499G>T (p.Lys4833Asn) | |
| 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.38580445T>A | CA405687833 | RYR1 | c.1523T>A c.2920T>A c.2892T>A c.14587T>A (p.Phe4863Ile) c.14572T>A (p.Phe4858Ile) c.14569T>A (p.Phe4857Ile) c.14554T>A (p.Phe4852Ile) c.14584T>A (p.Phe4862Ile) c.14500T>A (p.Phe4834Ile) | |
| 19 | g.38580445T>C | CA405687830 | RYR1 | c.1523T>C c.2920T>C c.2892T>C c.14587T>C (p.Phe4863Leu) c.14572T>C (p.Phe4858Leu) c.14569T>C (p.Phe4857Leu) c.14554T>C (p.Phe4852Leu) c.14584T>C (p.Phe4862Leu) c.14500T>C (p.Phe4834Leu) | ClinVar |
| 19 | g.38580445T>G | CA405687828 | RYR1 | c.1523T>G c.2920T>G c.2892T>G c.14587T>G (p.Phe4863Val) c.14572T>G (p.Phe4858Val) c.14569T>G (p.Phe4857Val) c.14554T>G (p.Phe4852Val) c.14584T>G (p.Phe4862Val) c.14500T>G (p.Phe4834Val) | ClinVar dbSNP |
| 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.38580446T>A | CA405687836 | RYR1 | c.1524T>A c.2921T>A c.2893T>A c.14588T>A (p.Phe4863Tyr) c.14573T>A (p.Phe4858Tyr) c.14570T>A (p.Phe4857Tyr) c.14555T>A (p.Phe4852Tyr) c.14585T>A (p.Phe4862Tyr) c.14501T>A (p.Phe4834Tyr) | |
| 19 | g.38580446T>C | CA405687837 | RYR1 | c.1524T>C c.2921T>C c.2893T>C c.14588T>C (p.Phe4863Ser) c.14573T>C (p.Phe4858Ser) c.14570T>C (p.Phe4857Ser) c.14555T>C (p.Phe4852Ser) c.14585T>C (p.Phe4862Ser) c.14501T>C (p.Phe4834Ser) | |
| 19 | g.38580446T>G | CA405687839 | RYR1 | c.1524T>G c.2921T>G c.2893T>G c.14588T>G (p.Phe4863Cys) c.14573T>G (p.Phe4858Cys) c.14570T>G (p.Phe4857Cys) c.14555T>G (p.Phe4852Cys) c.14585T>G (p.Phe4862Cys) c.14501T>G (p.Phe4834Cys) | |
| 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.38580447C>A | CA405687844 | RYR1 | c.1525C>A c.2922C>A c.2894C>A c.14589C>A (p.Phe4863Leu) c.14574C>A (p.Phe4858Leu) c.14571C>A (p.Phe4857Leu) c.14556C>A (p.Phe4852Leu) c.14586C>A (p.Phe4862Leu) c.14502C>A (p.Phe4834Leu) | |
| 19 | g.38580447C= | CA2335092487 | RYR1 | c.1525C= c.2922C= c.2894C= c.14589C= (p.Phe4863=) c.14574C= (p.Phe4858=) c.14571C= (p.Phe4857=) c.14556C= (p.Phe4852=) c.14586C= (p.Phe4862=) c.14502C= (p.Phe4834=) | |
| 19 | g.38580447C>G | CA405687845 | RYR1 | c.1525C>G c.2922C>G c.2894C>G c.14589C>G (p.Phe4863Leu) c.14574C>G (p.Phe4858Leu) c.14571C>G (p.Phe4857Leu) c.14556C>G (p.Phe4852Leu) c.14586C>G (p.Phe4862Leu) c.14502C>G (p.Phe4834Leu) | |
| 19 | g.38580447C>T | CA024194 | RYR1 | c.1525C>T c.2922C>T c.2894C>T c.14589C>T (p.Phe4863=) c.14574C>T (p.Phe4858=) c.14571C>T (p.Phe4857=) c.14556C>T (p.Phe4852=) c.14586C>T (p.Phe4862=) c.14502C>T (p.Phe4834=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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.38580448T>A | CA405687848 | RYR1 | c.1526T>A c.2923T>A c.2895T>A c.14590T>A (p.Tyr4864Asn) c.14575T>A (p.Tyr4859Asn) c.14572T>A (p.Tyr4858Asn) c.14557T>A (p.Tyr4853Asn) c.14587T>A (p.Tyr4863Asn) c.14503T>A (p.Tyr4835Asn) | |
| 19 | g.38580448T>C | CA405687849 | RYR1 | c.1526T>C c.2923T>C c.2895T>C c.14590T>C (p.Tyr4864His) c.14575T>C (p.Tyr4859His) c.14572T>C (p.Tyr4858His) c.14557T>C (p.Tyr4853His) c.14587T>C (p.Tyr4863His) c.14503T>C (p.Tyr4835His) | |
| 19 | g.38580448T>G | CA405687851 | RYR1 | c.1526T>G c.2923T>G c.2895T>G c.14590T>G (p.Tyr4864Asp) c.14575T>G (p.Tyr4859Asp) c.14572T>G (p.Tyr4858Asp) c.14557T>G (p.Tyr4853Asp) c.14587T>G (p.Tyr4863Asp) c.14503T>G (p.Tyr4835Asp) | |
| 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 |