| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580371T>A | CA405687554 | RYR1 | c.1449T>A c.2846T>A c.2818T>A c.14513T>A (p.Leu4838Gln) c.14498T>A (p.Leu4833Gln) c.14495T>A (p.Leu4832Gln) c.14480T>A (p.Leu4827Gln) c.14510T>A (p.Leu4837Gln) c.14426T>A (p.Leu4809Gln) | |
| 19 | g.38580371T>C | CA405687550 | RYR1 | c.1449T>C c.2846T>C c.2818T>C c.14513T>C (p.Leu4838Pro) c.14498T>C (p.Leu4833Pro) c.14495T>C (p.Leu4832Pro) c.14480T>C (p.Leu4827Pro) c.14510T>C (p.Leu4837Pro) c.14426T>C (p.Leu4809Pro) | |
| 19 | g.38580371T>G | CA405687552 | RYR1 | c.1449T>G c.2846T>G c.2818T>G c.14513T>G (p.Leu4838Arg) c.14498T>G (p.Leu4833Arg) c.14495T>G (p.Leu4832Arg) c.14480T>G (p.Leu4827Arg) c.14510T>G (p.Leu4837Arg) c.14426T>G (p.Leu4809Arg) | |
| 19 | g.38580372G>A | CA507356007 | RYR1 | c.1450G>A c.2847G>A c.2819G>A c.14514G>A (p.Leu4838=) c.14499G>A (p.Leu4833=) c.14496G>A (p.Leu4832=) c.14481G>A (p.Leu4827=) c.14511G>A (p.Leu4837=) c.14427G>A (p.Leu4809=) | dbSNP gnomAD v4 |
| 19 | g.38580372G>C | CA507356008 | RYR1 | c.1450G>C c.2847G>C c.2819G>C c.14514G>C (p.Leu4838=) c.14499G>C (p.Leu4833=) c.14496G>C (p.Leu4832=) c.14481G>C (p.Leu4827=) c.14511G>C (p.Leu4837=) c.14427G>C (p.Leu4809=) | dbSNP |
| 19 | g.38580372G= | CA2335092441 | RYR1 | c.1450G= c.2847G= c.2819G= c.14514G= (p.Leu4838=) c.14499G= (p.Leu4833=) c.14496G= (p.Leu4832=) c.14481G= (p.Leu4827=) c.14511G= (p.Leu4837=) c.14427G= (p.Leu4809=) | |
| 19 | g.38580372G>T | CA507356009 | RYR1 | c.1450G>T c.2847G>T c.2819G>T c.14514G>T (p.Leu4838=) c.14499G>T (p.Leu4833=) c.14496G>T (p.Leu4832=) c.14481G>T (p.Leu4827=) c.14511G>T (p.Leu4837=) c.14427G>T (p.Leu4809=) | |
| 19 | g.38580373G>A | CA405687555 | RYR1 | c.1451G>A c.2848G>A c.2820G>A c.14515G>A (p.Val4839Met) c.14500G>A (p.Val4834Met) c.14497G>A (p.Val4833Met) c.14482G>A (p.Val4828Met) c.14512G>A (p.Val4838Met) c.14428G>A (p.Val4810Met) | |
| 19 | g.38580373G>C | CA405687557 | RYR1 | c.1451G>C c.2848G>C c.2820G>C c.14515G>C (p.Val4839Leu) c.14500G>C (p.Val4834Leu) c.14497G>C (p.Val4833Leu) c.14482G>C (p.Val4828Leu) c.14512G>C (p.Val4838Leu) c.14428G>C (p.Val4810Leu) | ClinVar dbSNP |
| 19 | g.38580373G= | CA2335092442 | RYR1 | c.1451G= c.2848G= c.2820G= c.14515G= (p.Val4839=) c.14500G= (p.Val4834=) c.14497G= (p.Val4833=) c.14482G= (p.Val4828=) c.14512G= (p.Val4838=) c.14428G= (p.Val4810=) | |
| 19 | g.38580373G>T | CA405687559 | RYR1 | c.1451G>T c.2848G>T c.2820G>T c.14515G>T (p.Val4839Leu) c.14500G>T (p.Val4834Leu) c.14497G>T (p.Val4833Leu) c.14482G>T (p.Val4828Leu) c.14512G>T (p.Val4838Leu) c.14428G>T (p.Val4810Leu) | dbSNP |
| 19 | g.38580374T>A | CA405687563 | RYR1 | c.1452T>A c.2849T>A c.2821T>A c.14516T>A (p.Val4839Glu) c.14501T>A (p.Val4834Glu) c.14498T>A (p.Val4833Glu) c.14483T>A (p.Val4828Glu) c.14513T>A (p.Val4838Glu) c.14429T>A (p.Val4810Glu) | |
| 19 | g.38580374T>C | CA405687565 | RYR1 | c.1452T>C c.2849T>C c.2821T>C c.14516T>C (p.Val4839Ala) c.14501T>C (p.Val4834Ala) c.14498T>C (p.Val4833Ala) c.14483T>C (p.Val4828Ala) c.14513T>C (p.Val4838Ala) c.14429T>C (p.Val4810Ala) | |
| 19 | g.38580374T>G | CA405687566 | RYR1 | c.1452T>G c.2849T>G c.2821T>G c.14516T>G (p.Val4839Gly) c.14501T>G (p.Val4834Gly) c.14498T>G (p.Val4833Gly) c.14483T>G (p.Val4828Gly) c.14513T>G (p.Val4838Gly) c.14429T>G (p.Val4810Gly) | |
| 19 | g.38580375G>A | CA081242 | RYR1 | c.1453G>A c.2850G>A c.2822G>A c.14517G>A (p.Val4839=) c.14502G>A (p.Val4834=) c.14499G>A (p.Val4833=) c.14484G>A (p.Val4828=) c.14514G>A (p.Val4838=) c.14430G>A (p.Val4810=) | |
| 19 | g.38580375G>C | CA507356014 | RYR1 | c.1453G>C c.2850G>C c.2822G>C c.14517G>C (p.Val4839=) c.14502G>C (p.Val4834=) c.14499G>C (p.Val4833=) c.14484G>C (p.Val4828=) c.14514G>C (p.Val4838=) c.14430G>C (p.Val4810=) | |
| 19 | g.38580375G>T | CA507356016 | RYR1 | c.1453G>T c.2850G>T c.2822G>T c.14517G>T (p.Val4839=) c.14502G>T (p.Val4834=) c.14499G>T (p.Val4833=) c.14484G>T (p.Val4828=) c.14514G>T (p.Val4838=) c.14430G>T (p.Val4810=) | |
| 19 | g.38580376A= | CA2335092443 | RYR1 | c.1454A= c.2851A= c.2823A= c.14518A= (p.Met4840=) c.14503A= (p.Met4835=) c.14500A= (p.Met4834=) c.14485A= (p.Met4829=) c.14515A= (p.Met4839=) c.14431A= (p.Met4811=) | |
| 19 | g.38580376A>C | CA405687567 | RYR1 | c.1454A>C c.2851A>C c.2823A>C c.14518A>C (p.Met4840Leu) c.14503A>C (p.Met4835Leu) c.14500A>C (p.Met4834Leu) c.14485A>C (p.Met4829Leu) c.14515A>C (p.Met4839Leu) c.14431A>C (p.Met4811Leu) | |
| 19 | g.38580376A>G | CA405687568 | RYR1 | c.1454A>G c.2851A>G c.2823A>G c.14518A>G (p.Met4840Val) c.14503A>G (p.Met4835Val) c.14500A>G (p.Met4834Val) c.14485A>G (p.Met4829Val) c.14515A>G (p.Met4839Val) c.14431A>G (p.Met4811Val) | |
| 19 | g.38580376A>T | CA308121922 | RYR1 | c.1454A>T c.2851A>T c.2823A>T c.14518A>T (p.Met4840Leu) c.14503A>T (p.Met4835Leu) c.14500A>T (p.Met4834Leu) c.14485A>T (p.Met4829Leu) c.14515A>T (p.Met4839Leu) c.14431A>T (p.Met4811Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580377T>A | CA405687571 | RYR1 | c.1455T>A c.2852T>A c.2824T>A c.14519T>A (p.Met4840Lys) c.14504T>A (p.Met4835Lys) c.14501T>A (p.Met4834Lys) c.14486T>A (p.Met4829Lys) c.14516T>A (p.Met4839Lys) c.14432T>A (p.Met4811Lys) | |
| 19 | g.38580377T>C | CA405687572 | RYR1 | c.1455T>C c.2852T>C c.2824T>C c.14519T>C (p.Met4840Thr) c.14504T>C (p.Met4835Thr) c.14501T>C (p.Met4834Thr) c.14486T>C (p.Met4829Thr) c.14516T>C (p.Met4839Thr) c.14432T>C (p.Met4811Thr) | |
| 19 | g.38580377T>G | CA405687574 | RYR1 | c.1455T>G c.2852T>G c.2824T>G c.14519T>G (p.Met4840Arg) c.14504T>G (p.Met4835Arg) c.14501T>G (p.Met4834Arg) c.14486T>G (p.Met4829Arg) c.14516T>G (p.Met4839Arg) c.14432T>G (p.Met4811Arg) | ClinVar dbSNP |
| 19 | g.38580377T= | CA2335092444 | RYR1 | c.1455T= c.2852T= c.2824T= c.14519T= (p.Met4840=) c.14504T= (p.Met4835=) c.14501T= (p.Met4834=) c.14486T= (p.Met4829=) c.14516T= (p.Met4839=) c.14432T= (p.Met4811=) | |
| 19 | g.38580378G>A | CA405687579 | RYR1 | c.1456G>A c.2853G>A c.2825G>A c.14520G>A (p.Met4840Ile) c.14505G>A (p.Met4835Ile) c.14502G>A (p.Met4834Ile) c.14487G>A (p.Met4829Ile) c.14517G>A (p.Met4839Ile) c.14433G>A (p.Met4811Ile) | |
| 19 | g.38580378G>C | CA405687578 | RYR1 | c.1456G>C c.2853G>C c.2825G>C c.14520G>C (p.Met4840Ile) c.14505G>C (p.Met4835Ile) c.14502G>C (p.Met4834Ile) c.14487G>C (p.Met4829Ile) c.14517G>C (p.Met4839Ile) c.14433G>C (p.Met4811Ile) | |
| 19 | g.38580378G= | CA2335092445 | RYR1 | c.1456G= c.2853G= c.2825G= c.14520G= (p.Met4840=) c.14505G= (p.Met4835=) c.14502G= (p.Met4834=) c.14487G= (p.Met4829=) c.14517G= (p.Met4839=) c.14433G= (p.Met4811=) | |
| 19 | g.38580378G>T | CA405687576 | RYR1 | c.1456G>T c.2853G>T c.2825G>T c.14520G>T (p.Met4840Ile) c.14505G>T (p.Met4835Ile) c.14502G>T (p.Met4834Ile) c.14487G>T (p.Met4829Ile) c.14517G>T (p.Met4839Ile) c.14433G>T (p.Met4811Ile) | gnomAD v4 |
| 19 | g.38580379A>C | CA405687580 | RYR1 | c.1457A>C c.2854A>C c.2826A>C c.14521A>C (p.Thr4841Pro) c.14506A>C (p.Thr4836Pro) c.14503A>C (p.Thr4835Pro) c.14488A>C (p.Thr4830Pro) c.14518A>C (p.Thr4840Pro) c.14434A>C (p.Thr4812Pro) | |
| 19 | g.38580379A>G | CA405687581 | RYR1 | c.1457A>G c.2854A>G c.2826A>G c.14521A>G (p.Thr4841Ala) c.14506A>G (p.Thr4836Ala) c.14503A>G (p.Thr4835Ala) c.14488A>G (p.Thr4830Ala) c.14518A>G (p.Thr4840Ala) c.14434A>G (p.Thr4812Ala) | |
| 19 | g.38580379A>T | CA405687583 | RYR1 | c.1457A>T c.2854A>T c.2826A>T c.14521A>T (p.Thr4841Ser) c.14506A>T (p.Thr4836Ser) c.14503A>T (p.Thr4835Ser) c.14488A>T (p.Thr4830Ser) c.14518A>T (p.Thr4840Ser) c.14434A>T (p.Thr4812Ser) | |
| 19 | g.38580379_38580381dup | CA2335092446 | RYR1 | c.1457_1459dup c.2854_2856dup c.2826_2828dup c.14521_14523dup (p.Thr4841_Val4842insThr) c.14506_14508dup (p.Thr4836_Val4837insThr) c.14503_14505dup (p.Thr4835_Val4836insThr) c.14488_14490dup (p.Thr4830_Val4831insThr) c.14518_14520dup (p.Thr4840_Val4841insThr) c.14434_14436dup (p.Thr4812_Val4813insThr) | dbSNP |
| 19 | g.38580380C>A | CA405687585 | RYR1 | c.1458C>A c.2855C>A c.2827C>A c.14522C>A (p.Thr4841Asn) c.14507C>A (p.Thr4836Asn) c.14504C>A (p.Thr4835Asn) c.14489C>A (p.Thr4830Asn) c.14519C>A (p.Thr4840Asn) c.14435C>A (p.Thr4812Asn) | |
| 19 | g.38580380C>G | CA405687586 | RYR1 | c.1458C>G c.2855C>G c.2827C>G c.14522C>G (p.Thr4841Ser) c.14507C>G (p.Thr4836Ser) c.14504C>G (p.Thr4835Ser) c.14489C>G (p.Thr4830Ser) c.14519C>G (p.Thr4840Ser) c.14435C>G (p.Thr4812Ser) | |
| 19 | g.38580380C>T | CA405687589 | RYR1 | c.1458C>T c.2855C>T c.2827C>T c.14522C>T (p.Thr4841Ile) c.14507C>T (p.Thr4836Ile) c.14504C>T (p.Thr4835Ile) c.14489C>T (p.Thr4830Ile) c.14519C>T (p.Thr4840Ile) c.14435C>T (p.Thr4812Ile) | |
| 19 | g.38580381C>A | CA507356023 | RYR1 | c.1459C>A c.2856C>A c.2828C>A c.14523C>A (p.Thr4841=) c.14508C>A (p.Thr4836=) c.14505C>A (p.Thr4835=) c.14490C>A (p.Thr4830=) c.14520C>A (p.Thr4840=) c.14436C>A (p.Thr4812=) | |
| 19 | g.38580381C= | CA2335092447 | RYR1 | c.1459C= c.2856C= c.2828C= c.14523C= (p.Thr4841=) c.14508C= (p.Thr4836=) c.14505C= (p.Thr4835=) c.14490C= (p.Thr4830=) c.14520C= (p.Thr4840=) c.14436C= (p.Thr4812=) | |
| 19 | g.38580381C>G | CA507356025 | RYR1 | c.1459C>G c.2856C>G c.2828C>G c.14523C>G (p.Thr4841=) c.14508C>G (p.Thr4836=) c.14505C>G (p.Thr4835=) c.14490C>G (p.Thr4830=) c.14520C>G (p.Thr4840=) c.14436C>G (p.Thr4812=) | |
| 19 | g.38580381C>T | CA061377 | RYR1 | c.1459C>T c.2856C>T c.2828C>T c.14523C>T (p.Thr4841=) c.14508C>T (p.Thr4836=) c.14505C>T (p.Thr4835=) c.14490C>T (p.Thr4830=) c.14520C>T (p.Thr4840=) c.14436C>T (p.Thr4812=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38580382G>A | CA024165 | RYR1 | c.1460G>A c.2857G>A c.2829G>A c.14524G>A (p.Val4842Met) c.14509G>A (p.Val4837Met) c.14506G>A (p.Val4836Met) c.14491G>A (p.Val4831Met) c.14521G>A (p.Val4841Met) c.14437G>A (p.Val4813Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580382G>C | CA081238 | RYR1 | c.1460G>C c.2857G>C c.2829G>C c.14524G>C (p.Val4842Leu) c.14509G>C (p.Val4837Leu) c.14506G>C (p.Val4836Leu) c.14491G>C (p.Val4831Leu) c.14521G>C (p.Val4841Leu) c.14437G>C (p.Val4813Leu) | gnomAD v4 |
| 19 | g.38580382G= | CA2335092448 | RYR1 | c.1460G= c.2857G= c.2829G= c.14524G= (p.Val4842=) c.14509G= (p.Val4837=) c.14506G= (p.Val4836=) c.14491G= (p.Val4831=) c.14521G= (p.Val4841=) c.14437G= (p.Val4813=) | |
| 19 | g.38580382G>T | CA405687593 | RYR1 | c.1460G>T c.2857G>T c.2829G>T c.14524G>T (p.Val4842Leu) c.14509G>T (p.Val4837Leu) c.14506G>T (p.Val4836Leu) c.14491G>T (p.Val4831Leu) c.14521G>T (p.Val4841Leu) c.14437G>T (p.Val4813Leu) | gnomAD v4 |
| 19 | g.38580383T>A | CA405687594 | RYR1 | c.1461T>A c.2858T>A c.2830T>A c.14525T>A (p.Val4842Glu) c.14510T>A (p.Val4837Glu) c.14507T>A (p.Val4836Glu) c.14492T>A (p.Val4831Glu) c.14522T>A (p.Val4841Glu) c.14438T>A (p.Val4813Glu) | |
| 19 | g.38580383T>C | CA405687595 | RYR1 | c.1461T>C c.2858T>C c.2830T>C c.14525T>C (p.Val4842Ala) c.14510T>C (p.Val4837Ala) c.14507T>C (p.Val4836Ala) c.14492T>C (p.Val4831Ala) c.14522T>C (p.Val4841Ala) c.14438T>C (p.Val4813Ala) | dbSNP gnomAD v4 |
| 19 | g.38580383T>G | CA405687597 | RYR1 | c.1461T>G c.2858T>G c.2830T>G c.14525T>G (p.Val4842Gly) c.14510T>G (p.Val4837Gly) c.14507T>G (p.Val4836Gly) c.14492T>G (p.Val4831Gly) c.14522T>G (p.Val4841Gly) c.14438T>G (p.Val4813Gly) | |
| 19 | g.38580383T= | CA2335092449 | RYR1 | c.1461T= c.2858T= c.2830T= c.14525T= (p.Val4842=) c.14510T= (p.Val4837=) c.14507T= (p.Val4836=) c.14492T= (p.Val4831=) c.14522T= (p.Val4841=) c.14438T= (p.Val4813=) | |
| 19 | g.38580386_38580394del | CA2573156337 | RYR1 | c.1464_1472del c.2861_2869del c.2833_2841del c.14528_14536del (p.Gly4843_Leu4845del) c.14513_14521del (p.Gly4838_Leu4840del) c.14510_14518del (p.Gly4837_Leu4839del) c.14495_14503del (p.Gly4832_Leu4834del) c.14525_14533del (p.Gly4842_Leu4844del) c.14441_14449del (p.Gly4814_Leu4816del) | ClinVar dbSNP |
| 19 | g.38580384G>A | CA507356032 | RYR1 | c.1462G>A c.2859G>A c.2831G>A c.14526G>A (p.Val4842=) c.14511G>A (p.Val4837=) c.14508G>A (p.Val4836=) c.14493G>A (p.Val4831=) c.14523G>A (p.Val4841=) c.14439G>A (p.Val4813=) | ClinVar gnomAD v4 |