| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 19 | g.38580384G>C | CA507356031 | RYR1 | c.1462G>C c.2859G>C c.2831G>C c.14526G>C (p.Val4842=) c.14511G>C (p.Val4837=) c.14508G>C (p.Val4836=) c.14493G>C (p.Val4831=) c.14523G>C (p.Val4841=) c.14439G>C (p.Val4813=) | |
| 19 | g.38580384G= | CA2335092450 | RYR1 | c.1462G= c.2859G= c.2831G= c.14526G= (p.Val4842=) c.14511G= (p.Val4837=) c.14508G= (p.Val4836=) c.14493G= (p.Val4831=) c.14523G= (p.Val4841=) c.14439G= (p.Val4813=) | |
| 19 | g.38580384G>T | CA507356029 | RYR1 | c.1462G>T c.2859G>T c.2831G>T c.14526G>T (p.Val4842=) c.14511G>T (p.Val4837=) c.14508G>T (p.Val4836=) c.14493G>T (p.Val4831=) c.14523G>T (p.Val4841=) c.14439G>T (p.Val4813=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38580385G>A | CA081256 | RYR1 | c.1463G>A c.2860G>A c.2832G>A c.14527G>A (p.Gly4843Ser) c.14512G>A (p.Gly4838Ser) c.14509G>A (p.Gly4837Ser) c.14494G>A (p.Gly4832Ser) c.14524G>A (p.Gly4842Ser) c.14440G>A (p.Gly4814Ser) | |
| 19 | g.38580385G>C | CA405687601 | RYR1 | c.1463G>C c.2860G>C c.2832G>C c.14527G>C (p.Gly4843Arg) c.14512G>C (p.Gly4838Arg) c.14509G>C (p.Gly4837Arg) c.14494G>C (p.Gly4832Arg) c.14524G>C (p.Gly4842Arg) c.14440G>C (p.Gly4814Arg) | |
| 19 | g.38580385G>T | CA405687600 | RYR1 | c.1463G>T c.2860G>T c.2832G>T c.14527G>T (p.Gly4843Cys) c.14512G>T (p.Gly4838Cys) c.14509G>T (p.Gly4837Cys) c.14494G>T (p.Gly4832Cys) c.14524G>T (p.Gly4842Cys) c.14440G>T (p.Gly4814Cys) | |
| 19 | g.38580386_38580387insAGG | CA081239 | RYR1 | c.1464_1465insAGG c.2861_2862insAGG c.2833_2834insAGG c.14528_14529insAGG (p.Gly4843_Leu4844insGly) c.14513_14514insAGG (p.Gly4838_Leu4839insGly) c.14510_14511insAGG (p.Gly4837_Leu4838insGly) c.14495_14496insAGG (p.Gly4832_Leu4833insGly) c.14525_14526insAGG (p.Gly4842_Leu4843insGly) c.14441_14442insAGG (p.Gly4814_Leu4815insGly) | |
| 19 | g.38580386G>A | CA405687603 | RYR1 | c.1464G>A c.2861G>A c.2833G>A c.14528G>A (p.Gly4843Asp) c.14513G>A (p.Gly4838Asp) c.14510G>A (p.Gly4837Asp) c.14495G>A (p.Gly4832Asp) c.14525G>A (p.Gly4842Asp) c.14441G>A (p.Gly4814Asp) | |
| 19 | g.38580386G>C | CA405687605 | RYR1 | c.1464G>C c.2861G>C c.2833G>C c.14528G>C (p.Gly4843Ala) c.14513G>C (p.Gly4838Ala) c.14510G>C (p.Gly4837Ala) c.14495G>C (p.Gly4832Ala) c.14525G>C (p.Gly4842Ala) c.14441G>C (p.Gly4814Ala) | |
| 19 | g.38580386G>T | CA405687607 | RYR1 | c.1464G>T c.2861G>T c.2833G>T c.14528G>T (p.Gly4843Val) c.14513G>T (p.Gly4838Val) c.14510G>T (p.Gly4837Val) c.14495G>T (p.Gly4832Val) c.14525G>T (p.Gly4842Val) c.14441G>T (p.Gly4814Val) | |
| 19 | g.38580387C>A | CA507356035 | RYR1 | c.1465C>A c.2862C>A c.2834C>A c.14529C>A (p.Gly4843=) c.14514C>A (p.Gly4838=) c.14511C>A (p.Gly4837=) c.14496C>A (p.Gly4832=) c.14526C>A (p.Gly4842=) c.14442C>A (p.Gly4814=) | |
| 19 | g.38580387C>G | CA507356036 | RYR1 | c.1465C>G c.2862C>G c.2834C>G c.14529C>G (p.Gly4843=) c.14514C>G (p.Gly4838=) c.14511C>G (p.Gly4837=) c.14496C>G (p.Gly4832=) c.14526C>G (p.Gly4842=) c.14442C>G (p.Gly4814=) | |
| 19 | g.38580387C>T | CA507356037 | RYR1 | c.1465C>T c.2862C>T c.2834C>T c.14529C>T (p.Gly4843=) c.14514C>T (p.Gly4838=) c.14511C>T (p.Gly4837=) c.14496C>T (p.Gly4832=) c.14526C>T (p.Gly4842=) c.14442C>T (p.Gly4814=) | gnomAD v4 |
| 19 | g.38580388C>A | CA405687609 | RYR1 | c.1466C>A c.2863C>A c.2835C>A c.14530C>A (p.Leu4844Ile) c.14515C>A (p.Leu4839Ile) c.14512C>A (p.Leu4838Ile) c.14497C>A (p.Leu4833Ile) c.14527C>A (p.Leu4843Ile) c.14443C>A (p.Leu4815Ile) | |
| 19 | g.38580388C>G | CA405687610 | RYR1 | c.1466C>G c.2863C>G c.2835C>G c.14530C>G (p.Leu4844Val) c.14515C>G (p.Leu4839Val) c.14512C>G (p.Leu4838Val) c.14497C>G (p.Leu4833Val) c.14527C>G (p.Leu4843Val) c.14443C>G (p.Leu4815Val) | |
| 19 | g.38580388C>T | CA405687611 | RYR1 | c.1466C>T c.2863C>T c.2835C>T c.14530C>T (p.Leu4844Phe) c.14515C>T (p.Leu4839Phe) c.14512C>T (p.Leu4838Phe) c.14497C>T (p.Leu4833Phe) c.14527C>T (p.Leu4843Phe) c.14443C>T (p.Leu4815Phe) | gnomAD v4 |
| 19 | g.38580389T>A | CA405687612 | RYR1 | c.1467T>A c.2864T>A c.2836T>A c.14531T>A (p.Leu4844His) c.14516T>A (p.Leu4839His) c.14513T>A (p.Leu4838His) c.14498T>A (p.Leu4833His) c.14528T>A (p.Leu4843His) c.14444T>A (p.Leu4815His) | |
| 19 | g.38580389T>C | CA405687613 | RYR1 | c.1467T>C c.2864T>C c.2836T>C c.14531T>C (p.Leu4844Pro) c.14516T>C (p.Leu4839Pro) c.14513T>C (p.Leu4838Pro) c.14498T>C (p.Leu4833Pro) c.14528T>C (p.Leu4843Pro) c.14444T>C (p.Leu4815Pro) | ClinVar |
| 19 | g.38580389T>G | CA405687615 | RYR1 | c.1467T>G c.2864T>G c.2836T>G c.14531T>G (p.Leu4844Arg) c.14516T>G (p.Leu4839Arg) c.14513T>G (p.Leu4838Arg) c.14498T>G (p.Leu4833Arg) c.14528T>G (p.Leu4843Arg) c.14444T>G (p.Leu4815Arg) | |
| 19 | g.38580390T>A | CA507356042 | RYR1 | c.1468T>A c.2865T>A c.2837T>A c.14532T>A (p.Leu4844=) c.14517T>A (p.Leu4839=) c.14514T>A (p.Leu4838=) c.14499T>A (p.Leu4833=) c.14529T>A (p.Leu4843=) c.14445T>A (p.Leu4815=) | |
| 19 | g.38580390T>C | CA507356040 | RYR1 | c.1468T>C c.2865T>C c.2837T>C c.14532T>C (p.Leu4844=) c.14517T>C (p.Leu4839=) c.14514T>C (p.Leu4838=) c.14499T>C (p.Leu4833=) c.14529T>C (p.Leu4843=) c.14445T>C (p.Leu4815=) |